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Items: 1 to 20 of 896

1.

rs1490654922 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:30897111 (GRCh38)
    6:30864888 (GRCh37)
    Canonical SPDI:
    NC_000006.12:30897110:T:C
    Gene:
    DDR1 (Varview)
    Functional Consequence:
    coding_sequence_variant,3_prime_UTR_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000006.12:g.30897111T>C, NC_000006.11:g.30864888T>C, NG_029066.1:g.18028T>C, NM_001954.5:c.1856T>C, NM_001954.4:c.1856T>C, NM_013993.3:c.1967T>C, NM_013993.2:c.1967T>C, NM_013994.3:c.1967T>C, NM_013994.2:c.1967T>C, NM_001202523.3:c.1856T>C, NM_001202523.2:c.1910T>C, NM_001202523.1:c.1910T>C, NM_001297654.2:c.1967T>C, NM_001297654.1:c.1967T>C, NM_001297653.2:c.1856T>C, NM_001297653.1:c.1856T>C, NM_001297652.2:c.1856T>C, NM_001297652.1:c.1856T>C, NM_001387903.1:c.1967T>C, NM_001387901.1:c.1967T>C, NM_001387899.1:c.1967T>C, NM_001387895.1:c.1967T>C, NM_001387897.1:c.1967T>C, NM_001387902.1:c.1967T>C, NM_001387894.1:c.1967T>C, NM_001387911.1:c.1856T>C, NM_001387915.1:c.1856T>C, NM_001387893.1:c.1967T>C, NM_001387917.1:c.1856T>C, NM_001387916.1:c.1856T>C, NM_001387914.1:c.1856T>C, NM_001387912.1:c.1856T>C, NM_001387904.1:c.1967T>C, NM_001387918.1:c.1856T>C, NM_001387896.1:c.1967T>C, NM_001387909.1:c.1856T>C, NM_001387906.1:c.1856T>C, NM_001387892.1:c.1967T>C, NM_001387898.1:c.1967T>C, NM_001387900.1:c.1967T>C, NM_001387908.1:c.1856T>C, NM_001387910.1:c.1856T>C, NM_001387907.1:c.1856T>C, NM_001387905.1:c.1856T>C, NM_001387913.1:c.1856T>C, NM_001202521.1:c.*84T>C, NM_001202522.1:c.1529T>C, NT_113891.3:g.2376882T>C, NT_113891.2:g.2376988T>C, NT_167248.2:g.2152281T>C, NT_167248.1:g.2157877T>C, NT_167246.2:g.2207349T>C, NT_167246.1:g.2212969T>C, NT_167245.2:g.2153421T>C, NT_167245.1:g.2159006T>C, XM_011514887.3:c.1967T>C, XM_011514887.2:c.1967T>C, XM_011514887.1:c.1967T>C, XM_017011268.3:c.1967T>C, XM_017011268.2:c.1967T>C, XM_017011268.1:c.1967T>C, XM_024446541.2:c.1967T>C, XM_024446541.1:c.1967T>C, XM_024446540.2:c.1967T>C, XM_024446540.1:c.1967T>C, XM_047419318.1:c.2021T>C, XM_047419321.1:c.2021T>C, XM_047419324.1:c.2021T>C, XM_047419320.1:c.2021T>C, XM_047419333.1:c.1910T>C, XM_047419334.1:c.1910T>C, NM_001410869.1:c.1910T>C, XM_047419326.1:c.2021T>C, XM_047419329.1:c.1967T>C, XM_047419331.1:c.1910T>C, XM_047419332.1:c.1910T>C, XM_047419322.1:c.2021T>C, XM_011514884.2:c.1967T>C, XM_011514884.1:c.1967T>C, XM_047419328.1:c.1967T>C, XM_047419327.1:c.1967T>C, XM_047419330.1:c.1967T>C, XM_047419323.1:c.2021T>C, XM_047419325.1:c.2021T>C, XM_047419319.1:c.2021T>C, NP_001945.3:p.Ile619Thr, NP_054699.2:p.Ile656Thr, NP_054700.2:p.Ile656Thr, NP_001189452.2:p.Ile619Thr, NP_001284583.1:p.Ile656Thr, NP_001284582.1:p.Ile619Thr, NP_001284581.1:p.Ile619Thr, NP_001374832.1:p.Ile656Thr, NP_001374830.1:p.Ile656Thr, NP_001374828.1:p.Ile656Thr, NP_001374824.1:p.Ile656Thr, NP_001374826.1:p.Ile656Thr, NP_001374831.1:p.Ile656Thr, NP_001374823.1:p.Ile656Thr, NP_001374840.1:p.Ile619Thr, NP_001374844.1:p.Ile619Thr, NP_001374822.1:p.Ile656Thr, NP_001374846.1:p.Ile619Thr, NP_001374845.1:p.Ile619Thr, NP_001374843.1:p.Ile619Thr, NP_001374841.1:p.Ile619Thr, NP_001374833.1:p.Ile656Thr, NP_001374847.1:p.Ile619Thr, NP_001374825.1:p.Ile656Thr, NP_001374838.1:p.Ile619Thr, NP_001374835.1:p.Ile619Thr, NP_001374821.1:p.Ile656Thr, NP_001374827.1:p.Ile656Thr, NP_001374829.1:p.Ile656Thr, NP_001374837.1:p.Ile619Thr, NP_001374839.1:p.Ile619Thr, NP_001374836.1:p.Ile619Thr, NP_001374834.1:p.Ile619Thr, NP_001374842.1:p.Ile619Thr, NP_001189451.1:p.Ile510Thr, XP_011513189.1:p.Ile656Thr, XP_016866757.1:p.Ile656Thr, XP_024302309.1:p.Ile656Thr, XP_024302308.1:p.Ile656Thr, XP_047275274.1:p.Ile674Thr, XP_047275277.1:p.Ile674Thr, XP_047275280.1:p.Ile674Thr, XP_047275276.1:p.Ile674Thr, XP_047275289.1:p.Ile637Thr, XP_047275290.1:p.Ile637Thr, XP_047275282.1:p.Ile674Thr, XP_047275285.1:p.Ile656Thr, XP_047275287.1:p.Ile637Thr, XP_047275288.1:p.Ile637Thr, XP_047275278.1:p.Ile674Thr, XP_011513186.1:p.Ile656Thr, XP_047275284.1:p.Ile656Thr, XP_047275283.1:p.Ile656Thr, XP_047275286.1:p.Ile656Thr, XP_047275279.1:p.Ile674Thr, XP_047275281.1:p.Ile674Thr, XP_047275275.1:p.Ile674Thr

    2.

    rs1487622177 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:30895486 (GRCh38)
      6:30863263 (GRCh37)
      Canonical SPDI:
      NC_000006.12:30895485:C:T
      Gene:
      DDR1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000006.12:g.30895486C>T, NC_000006.11:g.30863263C>T, NG_029066.1:g.16403C>T, NM_013993.3:c.1596C>T, NM_013993.2:c.1596C>T, NM_013994.3:c.1596C>T, NM_013994.2:c.1596C>T, NM_001297654.2:c.1596C>T, NM_001297654.1:c.1596C>T, NM_001387903.1:c.1596C>T, NM_001387901.1:c.1596C>T, NM_001387899.1:c.1596C>T, NM_001387895.1:c.1596C>T, NM_001387897.1:c.1596C>T, NM_001387902.1:c.1596C>T, NM_001387894.1:c.1596C>T, NM_001387893.1:c.1596C>T, NM_001387904.1:c.1596C>T, NM_001387896.1:c.1596C>T, NM_001387892.1:c.1596C>T, NM_001387898.1:c.1596C>T, NM_001387900.1:c.1596C>T, NT_113891.3:g.2375257C>T, NT_113891.2:g.2375363C>T, NT_167248.2:g.2150656C>T, NT_167248.1:g.2156252C>T, NT_167246.2:g.2205724C>T, NT_167246.1:g.2211344C>T, NT_167245.2:g.2151796C>T, NT_167245.1:g.2157381C>T, XM_011514887.3:c.1596C>T, XM_011514887.2:c.1596C>T, XM_011514887.1:c.1596C>T, XM_017011268.3:c.1596C>T, XM_017011268.2:c.1596C>T, XM_017011268.1:c.1596C>T, XM_024446541.2:c.1596C>T, XM_024446541.1:c.1596C>T, XM_024446540.2:c.1596C>T, XM_024446540.1:c.1596C>T, XM_047419318.1:c.1650C>T, XM_047419321.1:c.1650C>T, XM_047419324.1:c.1650C>T, XM_047419320.1:c.1650C>T, XM_047419326.1:c.1650C>T, XM_047419329.1:c.1596C>T, XM_047419322.1:c.1650C>T, XM_011514884.2:c.1596C>T, XM_011514884.1:c.1596C>T, XM_047419328.1:c.1596C>T, XM_047419327.1:c.1596C>T, XM_047419330.1:c.1596C>T, XM_047419323.1:c.1650C>T, XM_047419325.1:c.1650C>T, XM_047419319.1:c.1650C>T

      3.

      rs1487415827 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        6:30888911 (GRCh38)
        6:30856688 (GRCh37)
        Canonical SPDI:
        NC_000006.12:30888910:A:G,NC_000006.12:30888910:A:T
        Gene:
        DDR1 (Varview), MIR4640 (Varview)
        Functional Consequence:
        coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.30888911A>G, NC_000006.12:g.30888911A>T, NC_000006.11:g.30856688A>G, NC_000006.11:g.30856688A>T, NG_029066.1:g.9828A>G, NG_029066.1:g.9828A>T, NM_001954.5:c.89A>G, NM_001954.5:c.89A>T, NM_001954.4:c.89A>G, NM_001954.4:c.89A>T, NM_013993.3:c.89A>G, NM_013993.3:c.89A>T, NM_013993.2:c.89A>G, NM_013993.2:c.89A>T, NM_013994.3:c.89A>G, NM_013994.3:c.89A>T, NM_013994.2:c.89A>G, NM_013994.2:c.89A>T, NM_001202523.3:c.89A>G, NM_001202523.3:c.89A>T, NM_001202523.2:c.143A>G, NM_001202523.2:c.143A>T, NM_001202523.1:c.143A>G, NM_001202523.1:c.143A>T, NM_001297654.2:c.89A>G, NM_001297654.2:c.89A>T, NM_001297654.1:c.89A>G, NM_001297654.1:c.89A>T, NM_001297653.2:c.89A>G, NM_001297653.2:c.89A>T, NM_001297653.1:c.89A>G, NM_001297653.1:c.89A>T, NM_001297652.2:c.89A>G, NM_001297652.2:c.89A>T, NM_001297652.1:c.89A>G, NM_001297652.1:c.89A>T, NM_001387903.1:c.89A>G, NM_001387903.1:c.89A>T, NM_001387901.1:c.89A>G, NM_001387901.1:c.89A>T, NM_001387899.1:c.89A>G, NM_001387899.1:c.89A>T, NM_001387895.1:c.89A>G, NM_001387895.1:c.89A>T, NM_001387897.1:c.89A>G, NM_001387897.1:c.89A>T, NM_001387902.1:c.89A>G, NM_001387902.1:c.89A>T, NM_001387894.1:c.89A>G, NM_001387894.1:c.89A>T, NM_001387911.1:c.89A>G, NM_001387911.1:c.89A>T, NM_001387915.1:c.89A>G, NM_001387915.1:c.89A>T, NM_001387893.1:c.89A>G, NM_001387893.1:c.89A>T, NM_001387917.1:c.89A>G, NM_001387917.1:c.89A>T, NM_001387916.1:c.89A>G, NM_001387916.1:c.89A>T, NM_001387914.1:c.89A>G, NM_001387914.1:c.89A>T, NM_001387912.1:c.89A>G, NM_001387912.1:c.89A>T, NM_001387904.1:c.89A>G, NM_001387904.1:c.89A>T, NM_001387918.1:c.89A>G, NM_001387918.1:c.89A>T, NM_001387896.1:c.89A>G, NM_001387896.1:c.89A>T, NM_001387909.1:c.89A>G, NM_001387909.1:c.89A>T, NM_001387906.1:c.89A>G, NM_001387906.1:c.89A>T, NM_001387892.1:c.89A>G, NM_001387892.1:c.89A>T, NM_001387898.1:c.89A>G, NM_001387898.1:c.89A>T, NM_001387900.1:c.89A>G, NM_001387900.1:c.89A>T, NM_001387908.1:c.89A>G, NM_001387908.1:c.89A>T, NM_001387910.1:c.89A>G, NM_001387910.1:c.89A>T, NM_001387907.1:c.89A>G, NM_001387907.1:c.89A>T, NM_001387905.1:c.89A>G, NM_001387905.1:c.89A>T, NM_001387913.1:c.89A>G, NM_001387913.1:c.89A>T, NM_001202521.1:c.89A>G, NM_001202521.1:c.89A>T, NM_001202522.1:c.89A>G, NM_001202522.1:c.89A>T, NT_113891.3:g.2368680A>G, NT_113891.3:g.2368680A>T, NT_113891.2:g.2368786A>G, NT_113891.2:g.2368786A>T, NT_167248.2:g.2144079A>G, NT_167248.2:g.2144079A>T, NT_167248.1:g.2149675A>G, NT_167248.1:g.2149675A>T, NT_167246.2:g.2199153A>G, NT_167246.2:g.2199153A>T, NT_167246.1:g.2204773A>G, NT_167246.1:g.2204773A>T, NT_167245.2:g.2145205A>G, NT_167245.2:g.2145205A>T, NT_167245.1:g.2150790A>G, NT_167245.1:g.2150790A>T, NT_167247.2:g.2233060A>G, NT_167247.2:g.2233060A>T, NT_167247.1:g.2238645A>G, NT_167247.1:g.2238645A>T, NT_167244.2:g.2218414A>G, NT_167244.2:g.2218414A>T, NT_167244.1:g.2168330A>G, NT_167244.1:g.2168330A>T, XM_011514887.3:c.89A>G, XM_011514887.3:c.89A>T, XM_011514887.2:c.89A>G, XM_011514887.2:c.89A>T, XM_011514887.1:c.89A>G, XM_011514887.1:c.89A>T, XM_017011268.3:c.89A>G, XM_017011268.3:c.89A>T, XM_017011268.2:c.89A>G, XM_017011268.2:c.89A>T, XM_017011268.1:c.89A>G, XM_017011268.1:c.89A>T, XM_011514884.2:c.89A>G, XM_011514884.2:c.89A>T, XM_011514884.1:c.89A>G, XM_011514884.1:c.89A>T, XM_024446541.2:c.89A>G, XM_024446541.2:c.89A>T, XM_024446541.1:c.89A>G, XM_024446541.1:c.89A>T, XM_024446540.2:c.89A>G, XM_024446540.2:c.89A>T, XM_024446540.1:c.89A>G, XM_024446540.1:c.89A>T, XM_047419328.1:c.89A>G, XM_047419328.1:c.89A>T, XM_047419323.1:c.143A>G, XM_047419323.1:c.143A>T, XM_047419319.1:c.143A>G, XM_047419319.1:c.143A>T, XM_047419325.1:c.143A>G, XM_047419325.1:c.143A>T, XM_047419329.1:c.89A>G, XM_047419329.1:c.89A>T, XM_047419331.1:c.143A>G, XM_047419331.1:c.143A>T, XM_047419332.1:c.143A>G, XM_047419332.1:c.143A>T, XM_047419327.1:c.89A>G, XM_047419327.1:c.89A>T, XM_047419333.1:c.143A>G, XM_047419333.1:c.143A>T, NM_001410869.1:c.143A>G, NM_001410869.1:c.143A>T, XM_047419321.1:c.143A>G, XM_047419321.1:c.143A>T, XM_047419324.1:c.143A>G, XM_047419324.1:c.143A>T, XM_047419320.1:c.143A>G, XM_047419320.1:c.143A>T, XM_047419322.1:c.143A>G, XM_047419322.1:c.143A>T, XM_047419326.1:c.143A>G, XM_047419326.1:c.143A>T, XM_047419330.1:c.89A>G, XM_047419330.1:c.89A>T, XM_047419318.1:c.143A>G, XM_047419318.1:c.143A>T, XM_047419334.1:c.143A>G, XM_047419334.1:c.143A>T, NP_001945.3:p.Lys30Arg, NP_001945.3:p.Lys30Met, NP_054699.2:p.Lys30Arg, NP_054699.2:p.Lys30Met, NP_054700.2:p.Lys30Arg, NP_054700.2:p.Lys30Met, NP_001189452.2:p.Lys30Arg, NP_001189452.2:p.Lys30Met, NP_001284583.1:p.Lys30Arg, NP_001284583.1:p.Lys30Met, NP_001284582.1:p.Lys30Arg, NP_001284582.1:p.Lys30Met, NP_001284581.1:p.Lys30Arg, NP_001284581.1:p.Lys30Met, NP_001374832.1:p.Lys30Arg, NP_001374832.1:p.Lys30Met, NP_001374830.1:p.Lys30Arg, NP_001374830.1:p.Lys30Met, NP_001374828.1:p.Lys30Arg, NP_001374828.1:p.Lys30Met, NP_001374824.1:p.Lys30Arg, NP_001374824.1:p.Lys30Met, NP_001374826.1:p.Lys30Arg, NP_001374826.1:p.Lys30Met, NP_001374831.1:p.Lys30Arg, NP_001374831.1:p.Lys30Met, NP_001374823.1:p.Lys30Arg, NP_001374823.1:p.Lys30Met, NP_001374840.1:p.Lys30Arg, NP_001374840.1:p.Lys30Met, NP_001374844.1:p.Lys30Arg, NP_001374844.1:p.Lys30Met, NP_001374822.1:p.Lys30Arg, NP_001374822.1:p.Lys30Met, NP_001374846.1:p.Lys30Arg, NP_001374846.1:p.Lys30Met, NP_001374845.1:p.Lys30Arg, NP_001374845.1:p.Lys30Met, NP_001374843.1:p.Lys30Arg, NP_001374843.1:p.Lys30Met, NP_001374841.1:p.Lys30Arg, NP_001374841.1:p.Lys30Met, NP_001374833.1:p.Lys30Arg, NP_001374833.1:p.Lys30Met, NP_001374847.1:p.Lys30Arg, NP_001374847.1:p.Lys30Met, NP_001374825.1:p.Lys30Arg, NP_001374825.1:p.Lys30Met, NP_001374838.1:p.Lys30Arg, NP_001374838.1:p.Lys30Met, NP_001374835.1:p.Lys30Arg, NP_001374835.1:p.Lys30Met, NP_001374821.1:p.Lys30Arg, NP_001374821.1:p.Lys30Met, NP_001374827.1:p.Lys30Arg, NP_001374827.1:p.Lys30Met, NP_001374829.1:p.Lys30Arg, NP_001374829.1:p.Lys30Met, NP_001374837.1:p.Lys30Arg, NP_001374837.1:p.Lys30Met, NP_001374839.1:p.Lys30Arg, NP_001374839.1:p.Lys30Met, NP_001374836.1:p.Lys30Arg, NP_001374836.1:p.Lys30Met, NP_001374834.1:p.Lys30Arg, NP_001374834.1:p.Lys30Met, NP_001374842.1:p.Lys30Arg, NP_001374842.1:p.Lys30Met, NP_001189450.1:p.Lys30Arg, NP_001189450.1:p.Lys30Met, NP_001189451.1:p.Lys30Arg, NP_001189451.1:p.Lys30Met, XP_011513189.1:p.Lys30Arg, XP_011513189.1:p.Lys30Met, XP_016866757.1:p.Lys30Arg, XP_016866757.1:p.Lys30Met, XP_011513186.1:p.Lys30Arg, XP_011513186.1:p.Lys30Met, XP_024302309.1:p.Lys30Arg, XP_024302309.1:p.Lys30Met, XP_024302308.1:p.Lys30Arg, XP_024302308.1:p.Lys30Met, XP_047275284.1:p.Lys30Arg, XP_047275284.1:p.Lys30Met, XP_047275279.1:p.Lys48Arg, XP_047275279.1:p.Lys48Met, XP_047275275.1:p.Lys48Arg, XP_047275275.1:p.Lys48Met, XP_047275281.1:p.Lys48Arg, XP_047275281.1:p.Lys48Met, XP_047275285.1:p.Lys30Arg, XP_047275285.1:p.Lys30Met, XP_047275287.1:p.Lys48Arg, XP_047275287.1:p.Lys48Met, XP_047275288.1:p.Lys48Arg, XP_047275288.1:p.Lys48Met, XP_047275283.1:p.Lys30Arg, XP_047275283.1:p.Lys30Met, XP_047275289.1:p.Lys48Arg, XP_047275289.1:p.Lys48Met, XP_047275277.1:p.Lys48Arg, XP_047275277.1:p.Lys48Met, XP_047275280.1:p.Lys48Arg, XP_047275280.1:p.Lys48Met, XP_047275276.1:p.Lys48Arg, XP_047275276.1:p.Lys48Met, XP_047275278.1:p.Lys48Arg, XP_047275278.1:p.Lys48Met, XP_047275282.1:p.Lys48Arg, XP_047275282.1:p.Lys48Met, XP_047275286.1:p.Lys30Arg, XP_047275286.1:p.Lys30Met, XP_047275274.1:p.Lys48Arg, XP_047275274.1:p.Lys48Met, XP_047275290.1:p.Lys48Arg, XP_047275290.1:p.Lys48Met

        4.

        rs1486726894 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:30888784 (GRCh38)
          6:30856561 (GRCh37)
          Canonical SPDI:
          NC_000006.12:30888783:G:A
          Gene:
          DDR1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.30888784G>A, NC_000006.11:g.30856561G>A, NG_029066.1:g.9701G>A, NM_001954.5:c.55G>A, NM_001954.4:c.55G>A, NM_013993.3:c.55G>A, NM_013993.2:c.55G>A, NM_013994.3:c.55G>A, NM_013994.2:c.55G>A, NM_001202523.3:c.55G>A, NM_001202523.2:c.109G>A, NM_001202523.1:c.109G>A, NM_001297654.2:c.55G>A, NM_001297654.1:c.55G>A, NM_001297653.2:c.55G>A, NM_001297653.1:c.55G>A, NM_001297652.2:c.55G>A, NM_001297652.1:c.55G>A, NM_001387903.1:c.55G>A, NM_001387901.1:c.55G>A, NM_001387899.1:c.55G>A, NM_001387895.1:c.55G>A, NM_001387897.1:c.55G>A, NM_001387902.1:c.55G>A, NM_001387894.1:c.55G>A, NM_001387911.1:c.55G>A, NM_001387915.1:c.55G>A, NM_001387893.1:c.55G>A, NM_001387917.1:c.55G>A, NM_001387916.1:c.55G>A, NM_001387914.1:c.55G>A, NM_001387912.1:c.55G>A, NM_001387904.1:c.55G>A, NM_001387918.1:c.55G>A, NM_001387896.1:c.55G>A, NM_001387909.1:c.55G>A, NM_001387906.1:c.55G>A, NM_001387892.1:c.55G>A, NM_001387898.1:c.55G>A, NM_001387900.1:c.55G>A, NM_001387908.1:c.55G>A, NM_001387910.1:c.55G>A, NM_001387907.1:c.55G>A, NM_001387905.1:c.55G>A, NM_001387913.1:c.55G>A, NM_001202521.1:c.55G>A, NM_001202522.1:c.55G>A, NT_113891.3:g.2368553G>A, NT_113891.2:g.2368659G>A, NT_167248.2:g.2143952G>A, NT_167248.1:g.2149548G>A, NT_167246.2:g.2199026G>A, NT_167246.1:g.2204646G>A, NT_167245.2:g.2145078G>A, NT_167245.1:g.2150663G>A, NT_167247.2:g.2232933G>A, NT_167247.1:g.2238518G>A, NT_167244.2:g.2218287G>A, NT_167244.1:g.2168203G>A, XM_011514887.3:c.55G>A, XM_011514887.2:c.55G>A, XM_011514887.1:c.55G>A, XM_017011268.3:c.55G>A, XM_017011268.2:c.55G>A, XM_017011268.1:c.55G>A, XM_011514884.2:c.55G>A, XM_011514884.1:c.55G>A, XM_024446541.2:c.55G>A, XM_024446541.1:c.55G>A, XM_024446540.2:c.55G>A, XM_024446540.1:c.55G>A, XM_047419328.1:c.55G>A, XM_047419323.1:c.109G>A, XM_047419319.1:c.109G>A, XM_047419325.1:c.109G>A, XM_047419329.1:c.55G>A, XM_047419331.1:c.109G>A, XM_047419332.1:c.109G>A, XM_047419327.1:c.55G>A, XM_047419333.1:c.109G>A, NM_001410869.1:c.109G>A, XM_047419321.1:c.109G>A, XM_047419324.1:c.109G>A, XM_047419320.1:c.109G>A, XM_047419322.1:c.109G>A, XM_047419326.1:c.109G>A, XM_047419330.1:c.55G>A, XM_047419318.1:c.109G>A, XM_047419334.1:c.109G>A, NP_001945.3:p.Asp19Asn, NP_054699.2:p.Asp19Asn, NP_054700.2:p.Asp19Asn, NP_001189452.2:p.Asp19Asn, NP_001284583.1:p.Asp19Asn, NP_001284582.1:p.Asp19Asn, NP_001284581.1:p.Asp19Asn, NP_001374832.1:p.Asp19Asn, NP_001374830.1:p.Asp19Asn, NP_001374828.1:p.Asp19Asn, NP_001374824.1:p.Asp19Asn, NP_001374826.1:p.Asp19Asn, NP_001374831.1:p.Asp19Asn, NP_001374823.1:p.Asp19Asn, NP_001374840.1:p.Asp19Asn, NP_001374844.1:p.Asp19Asn, NP_001374822.1:p.Asp19Asn, NP_001374846.1:p.Asp19Asn, NP_001374845.1:p.Asp19Asn, NP_001374843.1:p.Asp19Asn, NP_001374841.1:p.Asp19Asn, NP_001374833.1:p.Asp19Asn, NP_001374847.1:p.Asp19Asn, NP_001374825.1:p.Asp19Asn, NP_001374838.1:p.Asp19Asn, NP_001374835.1:p.Asp19Asn, NP_001374821.1:p.Asp19Asn, NP_001374827.1:p.Asp19Asn, NP_001374829.1:p.Asp19Asn, NP_001374837.1:p.Asp19Asn, NP_001374839.1:p.Asp19Asn, NP_001374836.1:p.Asp19Asn, NP_001374834.1:p.Asp19Asn, NP_001374842.1:p.Asp19Asn, NP_001189450.1:p.Asp19Asn, NP_001189451.1:p.Asp19Asn, XP_011513189.1:p.Asp19Asn, XP_016866757.1:p.Asp19Asn, XP_011513186.1:p.Asp19Asn, XP_024302309.1:p.Asp19Asn, XP_024302308.1:p.Asp19Asn, XP_047275284.1:p.Asp19Asn, XP_047275279.1:p.Asp37Asn, XP_047275275.1:p.Asp37Asn, XP_047275281.1:p.Asp37Asn, XP_047275285.1:p.Asp19Asn, XP_047275287.1:p.Asp37Asn, XP_047275288.1:p.Asp37Asn, XP_047275283.1:p.Asp19Asn, XP_047275289.1:p.Asp37Asn, XP_047275277.1:p.Asp37Asn, XP_047275280.1:p.Asp37Asn, XP_047275276.1:p.Asp37Asn, XP_047275278.1:p.Asp37Asn, XP_047275282.1:p.Asp37Asn, XP_047275286.1:p.Asp19Asn, XP_047275274.1:p.Asp37Asn, XP_047275290.1:p.Asp37Asn

          5.

          rs1484728398 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            6:30897527 (GRCh38)
            6:30865304 (GRCh37)
            Canonical SPDI:
            NC_000006.12:30897526:C:A,NC_000006.12:30897526:C:T
            Gene:
            DDR1 (Varview)
            Functional Consequence:
            coding_sequence_variant,3_prime_UTR_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000007/1 (GnomAD)
            T=0.000026/7 (TOPMED)
            HGVS:
            NC_000006.12:g.30897527C>A, NC_000006.12:g.30897527C>T, NC_000006.11:g.30865304C>A, NC_000006.11:g.30865304C>T, NG_029066.1:g.18444C>A, NG_029066.1:g.18444C>T, NM_001954.5:c.2035C>A, NM_001954.5:c.2035C>T, NM_001954.4:c.2035C>A, NM_001954.4:c.2035C>T, NM_013993.3:c.2146C>A, NM_013993.3:c.2146C>T, NM_013993.2:c.2146C>A, NM_013993.2:c.2146C>T, NM_013994.3:c.2164C>A, NM_013994.3:c.2164C>T, NM_013994.2:c.2164C>A, NM_013994.2:c.2164C>T, NM_001202523.3:c.2035C>A, NM_001202523.3:c.2035C>T, NM_001202523.2:c.2089C>A, NM_001202523.2:c.2089C>T, NM_001202523.1:c.2089C>A, NM_001202523.1:c.2089C>T, NM_001297654.2:c.2146C>A, NM_001297654.2:c.2146C>T, NM_001297654.1:c.2146C>A, NM_001297654.1:c.2146C>T, NM_001297653.2:c.2035C>A, NM_001297653.2:c.2035C>T, NM_001297653.1:c.2035C>A, NM_001297653.1:c.2035C>T, NM_001297652.2:c.2035C>A, NM_001297652.2:c.2035C>T, NM_001297652.1:c.2035C>A, NM_001297652.1:c.2035C>T, NM_001387903.1:c.2146C>A, NM_001387903.1:c.2146C>T, NM_001387901.1:c.2146C>A, NM_001387901.1:c.2146C>T, NM_001387899.1:c.2146C>A, NM_001387899.1:c.2146C>T, NM_001387895.1:c.2146C>A, NM_001387895.1:c.2146C>T, NM_001387897.1:c.2146C>A, NM_001387897.1:c.2146C>T, NM_001387902.1:c.2146C>A, NM_001387902.1:c.2146C>T, NM_001387894.1:c.2146C>A, NM_001387894.1:c.2146C>T, NM_001387911.1:c.2035C>A, NM_001387911.1:c.2035C>T, NM_001387915.1:c.2035C>A, NM_001387915.1:c.2035C>T, NM_001387893.1:c.2146C>A, NM_001387893.1:c.2146C>T, NM_001387917.1:c.2035C>A, NM_001387917.1:c.2035C>T, NM_001387916.1:c.2035C>A, NM_001387916.1:c.2035C>T, NM_001387914.1:c.2035C>A, NM_001387914.1:c.2035C>T, NM_001387912.1:c.2035C>A, NM_001387912.1:c.2035C>T, NM_001387904.1:c.2146C>A, NM_001387904.1:c.2146C>T, NM_001387918.1:c.2035C>A, NM_001387918.1:c.2035C>T, NM_001387896.1:c.2146C>A, NM_001387896.1:c.2146C>T, NM_001387909.1:c.2035C>A, NM_001387909.1:c.2035C>T, NM_001387906.1:c.2053C>A, NM_001387906.1:c.2053C>T, NM_001387892.1:c.2164C>A, NM_001387892.1:c.2164C>T, NM_001387898.1:c.2146C>A, NM_001387898.1:c.2146C>T, NM_001387900.1:c.2146C>A, NM_001387900.1:c.2146C>T, NM_001387908.1:c.2035C>A, NM_001387908.1:c.2035C>T, NM_001387910.1:c.2035C>A, NM_001387910.1:c.2035C>T, NM_001387907.1:c.2053C>A, NM_001387907.1:c.2053C>T, NM_001387905.1:c.2053C>A, NM_001387905.1:c.2053C>T, NM_001387913.1:c.2035C>A, NM_001387913.1:c.2035C>T, NM_001202521.1:c.*263C>A, NM_001202521.1:c.*263C>T, NM_001202522.1:c.1708C>A, NM_001202522.1:c.1708C>T, NT_113891.3:g.2377298C>A, NT_113891.3:g.2377298C>T, NT_113891.2:g.2377404C>A, NT_113891.2:g.2377404C>T, NT_167248.2:g.2152697C>A, NT_167248.2:g.2152697C>T, NT_167248.1:g.2158293C>A, NT_167248.1:g.2158293C>T, NT_167246.2:g.2207765C>A, NT_167246.2:g.2207765C>T, NT_167246.1:g.2213385C>A, NT_167246.1:g.2213385C>T, NT_167245.2:g.2153837C>A, NT_167245.2:g.2153837C>T, NT_167245.1:g.2159422C>A, NT_167245.1:g.2159422C>T, XM_011514887.3:c.2164C>A, XM_011514887.3:c.2164C>T, XM_011514887.2:c.2164C>A, XM_011514887.2:c.2164C>T, XM_011514887.1:c.2164C>A, XM_011514887.1:c.2164C>T, XM_017011268.3:c.2164C>A, XM_017011268.3:c.2164C>T, XM_017011268.2:c.2164C>A, XM_017011268.2:c.2164C>T, XM_017011268.1:c.2164C>A, XM_017011268.1:c.2164C>T, XM_024446541.2:c.2164C>A, XM_024446541.2:c.2164C>T, XM_024446541.1:c.2164C>A, XM_024446541.1:c.2164C>T, XM_024446540.2:c.2164C>A, XM_024446540.2:c.2164C>T, XM_024446540.1:c.2164C>A, XM_024446540.1:c.2164C>T, XM_047419318.1:c.2218C>A, XM_047419318.1:c.2218C>T, XM_047419321.1:c.2218C>A, XM_047419321.1:c.2218C>T, XM_047419324.1:c.2218C>A, XM_047419324.1:c.2218C>T, XM_047419320.1:c.2218C>A, XM_047419320.1:c.2218C>T, XM_047419333.1:c.2089C>A, XM_047419333.1:c.2089C>T, XM_047419334.1:c.2089C>A, XM_047419334.1:c.2089C>T, NM_001410869.1:c.2089C>A, NM_001410869.1:c.2089C>T, XM_047419326.1:c.2200C>A, XM_047419326.1:c.2200C>T, XM_047419329.1:c.2164C>A, XM_047419329.1:c.2164C>T, XM_047419331.1:c.2107C>A, XM_047419331.1:c.2107C>T, XM_047419332.1:c.2089C>A, XM_047419332.1:c.2089C>T, XM_047419322.1:c.2218C>A, XM_047419322.1:c.2218C>T, XM_011514884.2:c.2164C>A, XM_011514884.2:c.2164C>T, XM_011514884.1:c.2164C>A, XM_011514884.1:c.2164C>T, XM_047419328.1:c.2164C>A, XM_047419328.1:c.2164C>T, XM_047419327.1:c.2164C>A, XM_047419327.1:c.2164C>T, XM_047419330.1:c.2164C>A, XM_047419330.1:c.2164C>T, XM_047419323.1:c.2218C>A, XM_047419323.1:c.2218C>T, XM_047419325.1:c.2200C>A, XM_047419325.1:c.2200C>T, XM_047419319.1:c.2218C>A, XM_047419319.1:c.2218C>T, NP_001945.3:p.His679Asn, NP_001945.3:p.His679Tyr, NP_054699.2:p.His716Asn, NP_054699.2:p.His716Tyr, NP_054700.2:p.His722Asn, NP_054700.2:p.His722Tyr, NP_001189452.2:p.His679Asn, NP_001189452.2:p.His679Tyr, NP_001284583.1:p.His716Asn, NP_001284583.1:p.His716Tyr, NP_001284582.1:p.His679Asn, NP_001284582.1:p.His679Tyr, NP_001284581.1:p.His679Asn, NP_001284581.1:p.His679Tyr, NP_001374832.1:p.His716Asn, NP_001374832.1:p.His716Tyr, NP_001374830.1:p.His716Asn, NP_001374830.1:p.His716Tyr, NP_001374828.1:p.His716Asn, NP_001374828.1:p.His716Tyr, NP_001374824.1:p.His716Asn, NP_001374824.1:p.His716Tyr, NP_001374826.1:p.His716Asn, NP_001374826.1:p.His716Tyr, NP_001374831.1:p.His716Asn, NP_001374831.1:p.His716Tyr, NP_001374823.1:p.His716Asn, NP_001374823.1:p.His716Tyr, NP_001374840.1:p.His679Asn, NP_001374840.1:p.His679Tyr, NP_001374844.1:p.His679Asn, NP_001374844.1:p.His679Tyr, NP_001374822.1:p.His716Asn, NP_001374822.1:p.His716Tyr, NP_001374846.1:p.His679Asn, NP_001374846.1:p.His679Tyr, NP_001374845.1:p.His679Asn, NP_001374845.1:p.His679Tyr, NP_001374843.1:p.His679Asn, NP_001374843.1:p.His679Tyr, NP_001374841.1:p.His679Asn, NP_001374841.1:p.His679Tyr, NP_001374833.1:p.His716Asn, NP_001374833.1:p.His716Tyr, NP_001374847.1:p.His679Asn, NP_001374847.1:p.His679Tyr, NP_001374825.1:p.His716Asn, NP_001374825.1:p.His716Tyr, NP_001374838.1:p.His679Asn, NP_001374838.1:p.His679Tyr, NP_001374835.1:p.His685Asn, NP_001374835.1:p.His685Tyr, NP_001374821.1:p.His722Asn, NP_001374821.1:p.His722Tyr, NP_001374827.1:p.His716Asn, NP_001374827.1:p.His716Tyr, NP_001374829.1:p.His716Asn, NP_001374829.1:p.His716Tyr, NP_001374837.1:p.His679Asn, NP_001374837.1:p.His679Tyr, NP_001374839.1:p.His679Asn, NP_001374839.1:p.His679Tyr, NP_001374836.1:p.His685Asn, NP_001374836.1:p.His685Tyr, NP_001374834.1:p.His685Asn, NP_001374834.1:p.His685Tyr, NP_001374842.1:p.His679Asn, NP_001374842.1:p.His679Tyr, NP_001189451.1:p.His570Asn, NP_001189451.1:p.His570Tyr, XP_011513189.1:p.His722Asn, XP_011513189.1:p.His722Tyr, XP_016866757.1:p.His722Asn, XP_016866757.1:p.His722Tyr, XP_024302309.1:p.His722Asn, XP_024302309.1:p.His722Tyr, XP_024302308.1:p.His722Asn, XP_024302308.1:p.His722Tyr, XP_047275274.1:p.His740Asn, XP_047275274.1:p.His740Tyr, XP_047275277.1:p.His740Asn, XP_047275277.1:p.His740Tyr, XP_047275280.1:p.His740Asn, XP_047275280.1:p.His740Tyr, XP_047275276.1:p.His740Asn, XP_047275276.1:p.His740Tyr, XP_047275289.1:p.His697Asn, XP_047275289.1:p.His697Tyr, XP_047275290.1:p.His697Asn, XP_047275290.1:p.His697Tyr, XP_047275282.1:p.His734Asn, XP_047275282.1:p.His734Tyr, XP_047275285.1:p.His722Asn, XP_047275285.1:p.His722Tyr, XP_047275287.1:p.His703Asn, XP_047275287.1:p.His703Tyr, XP_047275288.1:p.His697Asn, XP_047275288.1:p.His697Tyr, XP_047275278.1:p.His740Asn, XP_047275278.1:p.His740Tyr, XP_011513186.1:p.His722Asn, XP_011513186.1:p.His722Tyr, XP_047275284.1:p.His722Asn, XP_047275284.1:p.His722Tyr, XP_047275283.1:p.His722Asn, XP_047275283.1:p.His722Tyr, XP_047275286.1:p.His722Asn, XP_047275286.1:p.His722Tyr, XP_047275279.1:p.His740Asn, XP_047275279.1:p.His740Tyr, XP_047275281.1:p.His734Asn, XP_047275281.1:p.His734Tyr, XP_047275275.1:p.His740Asn, XP_047275275.1:p.His740Tyr

            6.

            rs1484184385 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              6:30893391 (GRCh38)
              6:30861168 (GRCh37)
              Canonical SPDI:
              NC_000006.12:30893390:T:G
              Gene:
              DDR1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000047/1 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.30893391T>G, NC_000006.11:g.30861168T>G, NG_029066.1:g.14308T>G, NM_001954.5:c.1315T>G, NM_001954.4:c.1315T>G, NM_013993.3:c.1315T>G, NM_013993.2:c.1315T>G, NM_013994.3:c.1315T>G, NM_013994.2:c.1315T>G, NM_001202523.3:c.1315T>G, NM_001202523.2:c.1369T>G, NM_001202523.1:c.1369T>G, NM_001297654.2:c.1315T>G, NM_001297654.1:c.1315T>G, NM_001297653.2:c.1315T>G, NM_001297653.1:c.1315T>G, NM_001297652.2:c.1315T>G, NM_001297652.1:c.1315T>G, NM_001387903.1:c.1315T>G, NM_001387901.1:c.1315T>G, NM_001387899.1:c.1315T>G, NM_001387895.1:c.1315T>G, NM_001387897.1:c.1315T>G, NM_001387902.1:c.1315T>G, NM_001387894.1:c.1315T>G, NM_001387911.1:c.1315T>G, NM_001387915.1:c.1315T>G, NM_001387893.1:c.1315T>G, NM_001387917.1:c.1315T>G, NM_001387916.1:c.1315T>G, NM_001387914.1:c.1315T>G, NM_001387912.1:c.1315T>G, NM_001387904.1:c.1315T>G, NM_001387918.1:c.1315T>G, NM_001387896.1:c.1315T>G, NM_001387909.1:c.1315T>G, NM_001387906.1:c.1315T>G, NM_001387892.1:c.1315T>G, NM_001387898.1:c.1315T>G, NM_001387900.1:c.1315T>G, NM_001387908.1:c.1315T>G, NM_001387910.1:c.1315T>G, NM_001387907.1:c.1315T>G, NM_001387905.1:c.1315T>G, NM_001387913.1:c.1315T>G, NM_001202521.1:c.1315T>G, NM_001202522.1:c.1315T>G, NT_113891.3:g.2373162T>G, NT_113891.2:g.2373268T>G, NT_167248.2:g.2148561T>G, NT_167248.1:g.2154157T>G, NT_167246.2:g.2203629T>G, NT_167246.1:g.2209249T>G, NT_167245.2:g.2149701T>G, NT_167245.1:g.2155286T>G, XM_011514887.3:c.1315T>G, XM_011514887.2:c.1315T>G, XM_011514887.1:c.1315T>G, XM_017011268.3:c.1315T>G, XM_017011268.2:c.1315T>G, XM_017011268.1:c.1315T>G, XM_024446541.2:c.1315T>G, XM_024446541.1:c.1315T>G, XM_024446540.2:c.1315T>G, XM_024446540.1:c.1315T>G, XM_047419318.1:c.1369T>G, XM_047419321.1:c.1369T>G, XM_047419324.1:c.1369T>G, XM_047419320.1:c.1369T>G, XM_047419333.1:c.1369T>G, XM_047419334.1:c.1369T>G, NM_001410869.1:c.1369T>G, XM_047419326.1:c.1369T>G, XM_047419329.1:c.1315T>G, XM_047419331.1:c.1369T>G, XM_047419332.1:c.1369T>G, XM_047419322.1:c.1369T>G, XM_011514884.2:c.1315T>G, XM_011514884.1:c.1315T>G, XM_047419328.1:c.1315T>G, XM_047419327.1:c.1315T>G, XM_047419330.1:c.1315T>G, XM_047419323.1:c.1369T>G, XM_047419325.1:c.1369T>G, XM_047419319.1:c.1369T>G, NP_001945.3:p.Trp439Gly, NP_054699.2:p.Trp439Gly, NP_054700.2:p.Trp439Gly, NP_001189452.2:p.Trp439Gly, NP_001284583.1:p.Trp439Gly, NP_001284582.1:p.Trp439Gly, NP_001284581.1:p.Trp439Gly, NP_001374832.1:p.Trp439Gly, NP_001374830.1:p.Trp439Gly, NP_001374828.1:p.Trp439Gly, NP_001374824.1:p.Trp439Gly, NP_001374826.1:p.Trp439Gly, NP_001374831.1:p.Trp439Gly, NP_001374823.1:p.Trp439Gly, NP_001374840.1:p.Trp439Gly, NP_001374844.1:p.Trp439Gly, NP_001374822.1:p.Trp439Gly, NP_001374846.1:p.Trp439Gly, NP_001374845.1:p.Trp439Gly, NP_001374843.1:p.Trp439Gly, NP_001374841.1:p.Trp439Gly, NP_001374833.1:p.Trp439Gly, NP_001374847.1:p.Trp439Gly, NP_001374825.1:p.Trp439Gly, NP_001374838.1:p.Trp439Gly, NP_001374835.1:p.Trp439Gly, NP_001374821.1:p.Trp439Gly, NP_001374827.1:p.Trp439Gly, NP_001374829.1:p.Trp439Gly, NP_001374837.1:p.Trp439Gly, NP_001374839.1:p.Trp439Gly, NP_001374836.1:p.Trp439Gly, NP_001374834.1:p.Trp439Gly, NP_001374842.1:p.Trp439Gly, NP_001189450.1:p.Trp439Gly, NP_001189451.1:p.Trp439Gly, XP_011513189.1:p.Trp439Gly, XP_016866757.1:p.Trp439Gly, XP_024302309.1:p.Trp439Gly, XP_024302308.1:p.Trp439Gly, XP_047275274.1:p.Trp457Gly, XP_047275277.1:p.Trp457Gly, XP_047275280.1:p.Trp457Gly, XP_047275276.1:p.Trp457Gly, XP_047275289.1:p.Trp457Gly, XP_047275290.1:p.Trp457Gly, XP_047275282.1:p.Trp457Gly, XP_047275285.1:p.Trp439Gly, XP_047275287.1:p.Trp457Gly, XP_047275288.1:p.Trp457Gly, XP_047275278.1:p.Trp457Gly, XP_011513186.1:p.Trp439Gly, XP_047275284.1:p.Trp439Gly, XP_047275283.1:p.Trp439Gly, XP_047275286.1:p.Trp439Gly, XP_047275279.1:p.Trp457Gly, XP_047275281.1:p.Trp457Gly, XP_047275275.1:p.Trp457Gly

              7.

              rs1483862184 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:30894661 (GRCh38)
                6:30862438 (GRCh37)
                Canonical SPDI:
                NC_000006.12:30894660:C:T
                Gene:
                DDR1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,synonymous_variant
                HGVS:
                NC_000006.12:g.30894661C>T, NC_000006.11:g.30862438C>T, NG_029066.1:g.15578C>T, NM_001954.5:c.1503C>T, NM_001954.4:c.1503C>T, NM_013993.3:c.1503C>T, NM_013993.2:c.1503C>T, NM_013994.3:c.1503C>T, NM_013994.2:c.1503C>T, NM_001202523.3:c.1503C>T, NM_001202523.2:c.1557C>T, NM_001202523.1:c.1557C>T, NM_001297654.2:c.1503C>T, NM_001297654.1:c.1503C>T, NM_001297653.2:c.1503C>T, NM_001297653.1:c.1503C>T, NM_001297652.2:c.1503C>T, NM_001297652.1:c.1503C>T, NM_001387903.1:c.1503C>T, NM_001387901.1:c.1503C>T, NM_001387899.1:c.1503C>T, NM_001387895.1:c.1503C>T, NM_001387897.1:c.1503C>T, NM_001387902.1:c.1503C>T, NM_001387894.1:c.1503C>T, NM_001387911.1:c.1503C>T, NM_001387915.1:c.1503C>T, NM_001387893.1:c.1503C>T, NM_001387917.1:c.1503C>T, NM_001387916.1:c.1503C>T, NM_001387914.1:c.1503C>T, NM_001387912.1:c.1503C>T, NM_001387904.1:c.1503C>T, NM_001387918.1:c.1503C>T, NM_001387896.1:c.1503C>T, NM_001387909.1:c.1503C>T, NM_001387906.1:c.1503C>T, NM_001387892.1:c.1503C>T, NM_001387898.1:c.1503C>T, NM_001387900.1:c.1503C>T, NM_001387908.1:c.1503C>T, NM_001387910.1:c.1503C>T, NM_001387907.1:c.1503C>T, NM_001387905.1:c.1503C>T, NM_001387913.1:c.1503C>T, NM_001202521.1:c.1503C>T, NM_001202522.1:c.1421C>T, NT_113891.3:g.2374432C>T, NT_113891.2:g.2374538C>T, NT_167248.2:g.2149831C>T, NT_167248.1:g.2155427C>T, NT_167246.2:g.2204899C>T, NT_167246.1:g.2210519C>T, NT_167245.2:g.2150971C>T, NT_167245.1:g.2156556C>T, XM_011514887.3:c.1503C>T, XM_011514887.2:c.1503C>T, XM_011514887.1:c.1503C>T, XM_017011268.3:c.1503C>T, XM_017011268.2:c.1503C>T, XM_017011268.1:c.1503C>T, XM_024446541.2:c.1503C>T, XM_024446541.1:c.1503C>T, XM_024446540.2:c.1503C>T, XM_024446540.1:c.1503C>T, XM_047419318.1:c.1557C>T, XM_047419321.1:c.1557C>T, XM_047419324.1:c.1557C>T, XM_047419320.1:c.1557C>T, XM_047419333.1:c.1557C>T, XM_047419334.1:c.1557C>T, NM_001410869.1:c.1557C>T, XM_047419326.1:c.1557C>T, XM_047419329.1:c.1503C>T, XM_047419331.1:c.1557C>T, XM_047419332.1:c.1557C>T, XM_047419322.1:c.1557C>T, XM_011514884.2:c.1503C>T, XM_011514884.1:c.1503C>T, XM_047419328.1:c.1503C>T, XM_047419327.1:c.1503C>T, XM_047419330.1:c.1503C>T, XM_047419323.1:c.1557C>T, XM_047419325.1:c.1557C>T, XM_047419319.1:c.1557C>T, NP_001189451.1:p.Pro474Leu

                8.

                rs1483756327 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  6:30892025 (GRCh38)
                  6:30859802 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:30892024:A:G
                  Gene:
                  DDR1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.30892025A>G, NC_000006.11:g.30859802A>G, NG_029066.1:g.12942A>G, NM_001954.5:c.689A>G, NM_001954.4:c.689A>G, NM_013993.3:c.689A>G, NM_013993.2:c.689A>G, NM_013994.3:c.689A>G, NM_013994.2:c.689A>G, NM_001202523.3:c.689A>G, NM_001202523.2:c.743A>G, NM_001202523.1:c.743A>G, NM_001297654.2:c.689A>G, NM_001297654.1:c.689A>G, NM_001297653.2:c.689A>G, NM_001297653.1:c.689A>G, NM_001297652.2:c.689A>G, NM_001297652.1:c.689A>G, NM_001387903.1:c.689A>G, NM_001387901.1:c.689A>G, NM_001387899.1:c.689A>G, NM_001387895.1:c.689A>G, NM_001387897.1:c.689A>G, NM_001387902.1:c.689A>G, NM_001387894.1:c.689A>G, NM_001387911.1:c.689A>G, NM_001387915.1:c.689A>G, NM_001387893.1:c.689A>G, NM_001387917.1:c.689A>G, NM_001387916.1:c.689A>G, NM_001387914.1:c.689A>G, NM_001387912.1:c.689A>G, NM_001387904.1:c.689A>G, NM_001387918.1:c.689A>G, NM_001387896.1:c.689A>G, NM_001387909.1:c.689A>G, NM_001387906.1:c.689A>G, NM_001387892.1:c.689A>G, NM_001387898.1:c.689A>G, NM_001387900.1:c.689A>G, NM_001387908.1:c.689A>G, NM_001387910.1:c.689A>G, NM_001387907.1:c.689A>G, NM_001387905.1:c.689A>G, NM_001387913.1:c.689A>G, NM_001202521.1:c.689A>G, NM_001202522.1:c.689A>G, NT_113891.3:g.2371796A>G, NT_113891.2:g.2371902A>G, NT_167248.2:g.2147195A>G, NT_167248.1:g.2152791A>G, NT_167246.2:g.2202263A>G, NT_167246.1:g.2207883A>G, NT_167245.2:g.2148335A>G, NT_167245.1:g.2153920A>G, NT_167247.2:g.2236176A>G, NT_167247.1:g.2241761A>G, XM_011514887.3:c.689A>G, XM_011514887.2:c.689A>G, XM_011514887.1:c.689A>G, XM_017011268.3:c.689A>G, XM_017011268.2:c.689A>G, XM_017011268.1:c.689A>G, XM_024446541.2:c.689A>G, XM_024446541.1:c.689A>G, XM_024446540.2:c.689A>G, XM_024446540.1:c.689A>G, XM_047419318.1:c.743A>G, XM_047419321.1:c.743A>G, XM_047419324.1:c.743A>G, XM_047419320.1:c.743A>G, XM_047419333.1:c.743A>G, XM_047419334.1:c.743A>G, NM_001410869.1:c.743A>G, XM_047419326.1:c.743A>G, XM_047419329.1:c.689A>G, XM_047419331.1:c.743A>G, XM_047419332.1:c.743A>G, XM_047419322.1:c.743A>G, XM_011514884.2:c.689A>G, XM_011514884.1:c.689A>G, XM_047419328.1:c.689A>G, XM_047419327.1:c.689A>G, XM_047419330.1:c.689A>G, XM_047419323.1:c.743A>G, XM_047419325.1:c.743A>G, XM_047419319.1:c.743A>G, NP_001945.3:p.Gln230Arg, NP_054699.2:p.Gln230Arg, NP_054700.2:p.Gln230Arg, NP_001189452.2:p.Gln230Arg, NP_001284583.1:p.Gln230Arg, NP_001284582.1:p.Gln230Arg, NP_001284581.1:p.Gln230Arg, NP_001374832.1:p.Gln230Arg, NP_001374830.1:p.Gln230Arg, NP_001374828.1:p.Gln230Arg, NP_001374824.1:p.Gln230Arg, NP_001374826.1:p.Gln230Arg, NP_001374831.1:p.Gln230Arg, NP_001374823.1:p.Gln230Arg, NP_001374840.1:p.Gln230Arg, NP_001374844.1:p.Gln230Arg, NP_001374822.1:p.Gln230Arg, NP_001374846.1:p.Gln230Arg, NP_001374845.1:p.Gln230Arg, NP_001374843.1:p.Gln230Arg, NP_001374841.1:p.Gln230Arg, NP_001374833.1:p.Gln230Arg, NP_001374847.1:p.Gln230Arg, NP_001374825.1:p.Gln230Arg, NP_001374838.1:p.Gln230Arg, NP_001374835.1:p.Gln230Arg, NP_001374821.1:p.Gln230Arg, NP_001374827.1:p.Gln230Arg, NP_001374829.1:p.Gln230Arg, NP_001374837.1:p.Gln230Arg, NP_001374839.1:p.Gln230Arg, NP_001374836.1:p.Gln230Arg, NP_001374834.1:p.Gln230Arg, NP_001374842.1:p.Gln230Arg, NP_001189450.1:p.Gln230Arg, NP_001189451.1:p.Gln230Arg, XP_011513189.1:p.Gln230Arg, XP_016866757.1:p.Gln230Arg, XP_024302309.1:p.Gln230Arg, XP_024302308.1:p.Gln230Arg, XP_047275274.1:p.Gln248Arg, XP_047275277.1:p.Gln248Arg, XP_047275280.1:p.Gln248Arg, XP_047275276.1:p.Gln248Arg, XP_047275289.1:p.Gln248Arg, XP_047275290.1:p.Gln248Arg, XP_047275282.1:p.Gln248Arg, XP_047275285.1:p.Gln230Arg, XP_047275287.1:p.Gln248Arg, XP_047275288.1:p.Gln248Arg, XP_047275278.1:p.Gln248Arg, XP_011513186.1:p.Gln230Arg, XP_047275284.1:p.Gln230Arg, XP_047275283.1:p.Gln230Arg, XP_047275286.1:p.Gln230Arg, XP_047275279.1:p.Gln248Arg, XP_047275281.1:p.Gln248Arg, XP_047275275.1:p.Gln248Arg

                  9.

                  rs1483503419 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G,T [Show Flanks]
                    Chromosome:
                    6:30892320 (GRCh38)
                    6:30860097 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:30892319:C:A,NC_000006.12:30892319:C:G,NC_000006.12:30892319:C:T
                    Gene:
                    DDR1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,synonymous_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000006.12:g.30892320C>A, NC_000006.12:g.30892320C>G, NC_000006.12:g.30892320C>T, NC_000006.11:g.30860097C>A, NC_000006.11:g.30860097C>G, NC_000006.11:g.30860097C>T, NG_029066.1:g.13237C>A, NG_029066.1:g.13237C>G, NG_029066.1:g.13237C>T, NM_001954.5:c.877C>A, NM_001954.5:c.877C>G, NM_001954.5:c.877C>T, NM_001954.4:c.877C>A, NM_001954.4:c.877C>G, NM_001954.4:c.877C>T, NM_013993.3:c.877C>A, NM_013993.3:c.877C>G, NM_013993.3:c.877C>T, NM_013993.2:c.877C>A, NM_013993.2:c.877C>G, NM_013993.2:c.877C>T, NM_013994.3:c.877C>A, NM_013994.3:c.877C>G, NM_013994.3:c.877C>T, NM_013994.2:c.877C>A, NM_013994.2:c.877C>G, NM_013994.2:c.877C>T, NM_001202523.3:c.877C>A, NM_001202523.3:c.877C>G, NM_001202523.3:c.877C>T, NM_001202523.2:c.931C>A, NM_001202523.2:c.931C>G, NM_001202523.2:c.931C>T, NM_001202523.1:c.931C>A, NM_001202523.1:c.931C>G, NM_001202523.1:c.931C>T, NM_001297654.2:c.877C>A, NM_001297654.2:c.877C>G, NM_001297654.2:c.877C>T, NM_001297654.1:c.877C>A, NM_001297654.1:c.877C>G, NM_001297654.1:c.877C>T, NM_001297653.2:c.877C>A, NM_001297653.2:c.877C>G, NM_001297653.2:c.877C>T, NM_001297653.1:c.877C>A, NM_001297653.1:c.877C>G, NM_001297653.1:c.877C>T, NM_001297652.2:c.877C>A, NM_001297652.2:c.877C>G, NM_001297652.2:c.877C>T, NM_001297652.1:c.877C>A, NM_001297652.1:c.877C>G, NM_001297652.1:c.877C>T, NM_001387903.1:c.877C>A, NM_001387903.1:c.877C>G, NM_001387903.1:c.877C>T, NM_001387901.1:c.877C>A, NM_001387901.1:c.877C>G, NM_001387901.1:c.877C>T, NM_001387899.1:c.877C>A, NM_001387899.1:c.877C>G, NM_001387899.1:c.877C>T, NM_001387895.1:c.877C>A, NM_001387895.1:c.877C>G, NM_001387895.1:c.877C>T, NM_001387897.1:c.877C>A, NM_001387897.1:c.877C>G, NM_001387897.1:c.877C>T, NM_001387902.1:c.877C>A, NM_001387902.1:c.877C>G, NM_001387902.1:c.877C>T, NM_001387894.1:c.877C>A, NM_001387894.1:c.877C>G, NM_001387894.1:c.877C>T, NM_001387911.1:c.877C>A, NM_001387911.1:c.877C>G, NM_001387911.1:c.877C>T, NM_001387915.1:c.877C>A, NM_001387915.1:c.877C>G, NM_001387915.1:c.877C>T, NM_001387893.1:c.877C>A, NM_001387893.1:c.877C>G, NM_001387893.1:c.877C>T, NM_001387917.1:c.877C>A, NM_001387917.1:c.877C>G, NM_001387917.1:c.877C>T, NM_001387916.1:c.877C>A, NM_001387916.1:c.877C>G, NM_001387916.1:c.877C>T, NM_001387914.1:c.877C>A, NM_001387914.1:c.877C>G, NM_001387914.1:c.877C>T, NM_001387912.1:c.877C>A, NM_001387912.1:c.877C>G, NM_001387912.1:c.877C>T, NM_001387904.1:c.877C>A, NM_001387904.1:c.877C>G, NM_001387904.1:c.877C>T, NM_001387918.1:c.877C>A, NM_001387918.1:c.877C>G, NM_001387918.1:c.877C>T, NM_001387896.1:c.877C>A, NM_001387896.1:c.877C>G, NM_001387896.1:c.877C>T, NM_001387909.1:c.877C>A, NM_001387909.1:c.877C>G, NM_001387909.1:c.877C>T, NM_001387906.1:c.877C>A, NM_001387906.1:c.877C>G, NM_001387906.1:c.877C>T, NM_001387892.1:c.877C>A, NM_001387892.1:c.877C>G, NM_001387892.1:c.877C>T, NM_001387898.1:c.877C>A, NM_001387898.1:c.877C>G, NM_001387898.1:c.877C>T, NM_001387900.1:c.877C>A, NM_001387900.1:c.877C>G, NM_001387900.1:c.877C>T, NM_001387908.1:c.877C>A, NM_001387908.1:c.877C>G, NM_001387908.1:c.877C>T, NM_001387910.1:c.877C>A, NM_001387910.1:c.877C>G, NM_001387910.1:c.877C>T, NM_001387907.1:c.877C>A, NM_001387907.1:c.877C>G, NM_001387907.1:c.877C>T, NM_001387905.1:c.877C>A, NM_001387905.1:c.877C>G, NM_001387905.1:c.877C>T, NM_001387913.1:c.877C>A, NM_001387913.1:c.877C>G, NM_001387913.1:c.877C>T, NM_001202521.1:c.877C>A, NM_001202521.1:c.877C>G, NM_001202521.1:c.877C>T, NM_001202522.1:c.877C>A, NM_001202522.1:c.877C>G, NM_001202522.1:c.877C>T, NT_113891.3:g.2372091C>A, NT_113891.3:g.2372091C>G, NT_113891.3:g.2372091C>T, NT_113891.2:g.2372197C>A, NT_113891.2:g.2372197C>G, NT_113891.2:g.2372197C>T, NT_167248.2:g.2147490C>A, NT_167248.2:g.2147490C>G, NT_167248.2:g.2147490C>T, NT_167248.1:g.2153086C>A, NT_167248.1:g.2153086C>G, NT_167248.1:g.2153086C>T, NT_167246.2:g.2202558C>A, NT_167246.2:g.2202558C>G, NT_167246.2:g.2202558C>T, NT_167246.1:g.2208178C>A, NT_167246.1:g.2208178C>G, NT_167246.1:g.2208178C>T, NT_167245.2:g.2148630C>A, NT_167245.2:g.2148630C>G, NT_167245.2:g.2148630C>T, NT_167245.1:g.2154215C>A, NT_167245.1:g.2154215C>G, NT_167245.1:g.2154215C>T, XM_011514887.3:c.877C>A, XM_011514887.3:c.877C>G, XM_011514887.3:c.877C>T, XM_011514887.2:c.877C>A, XM_011514887.2:c.877C>G, XM_011514887.2:c.877C>T, XM_011514887.1:c.877C>A, XM_011514887.1:c.877C>G, XM_011514887.1:c.877C>T, XM_017011268.3:c.877C>A, XM_017011268.3:c.877C>G, XM_017011268.3:c.877C>T, XM_017011268.2:c.877C>A, XM_017011268.2:c.877C>G, XM_017011268.2:c.877C>T, XM_017011268.1:c.877C>A, XM_017011268.1:c.877C>G, XM_017011268.1:c.877C>T, XM_024446541.2:c.877C>A, XM_024446541.2:c.877C>G, XM_024446541.2:c.877C>T, XM_024446541.1:c.877C>A, XM_024446541.1:c.877C>G, XM_024446541.1:c.877C>T, XM_024446540.2:c.877C>A, XM_024446540.2:c.877C>G, XM_024446540.2:c.877C>T, XM_024446540.1:c.877C>A, XM_024446540.1:c.877C>G, XM_024446540.1:c.877C>T, XM_047419318.1:c.931C>A, XM_047419318.1:c.931C>G, XM_047419318.1:c.931C>T, XM_047419321.1:c.931C>A, XM_047419321.1:c.931C>G, XM_047419321.1:c.931C>T, XM_047419324.1:c.931C>A, XM_047419324.1:c.931C>G, XM_047419324.1:c.931C>T, XM_047419320.1:c.931C>A, XM_047419320.1:c.931C>G, XM_047419320.1:c.931C>T, XM_047419333.1:c.931C>A, XM_047419333.1:c.931C>G, XM_047419333.1:c.931C>T, XM_047419334.1:c.931C>A, XM_047419334.1:c.931C>G, XM_047419334.1:c.931C>T, NM_001410869.1:c.931C>A, NM_001410869.1:c.931C>G, NM_001410869.1:c.931C>T, XM_047419326.1:c.931C>A, XM_047419326.1:c.931C>G, XM_047419326.1:c.931C>T, XM_047419329.1:c.877C>A, XM_047419329.1:c.877C>G, XM_047419329.1:c.877C>T, XM_047419331.1:c.931C>A, XM_047419331.1:c.931C>G, XM_047419331.1:c.931C>T, XM_047419332.1:c.931C>A, XM_047419332.1:c.931C>G, XM_047419332.1:c.931C>T, XM_047419322.1:c.931C>A, XM_047419322.1:c.931C>G, XM_047419322.1:c.931C>T, XM_011514884.2:c.877C>A, XM_011514884.2:c.877C>G, XM_011514884.2:c.877C>T, XM_011514884.1:c.877C>A, XM_011514884.1:c.877C>G, XM_011514884.1:c.877C>T, XM_047419328.1:c.877C>A, XM_047419328.1:c.877C>G, XM_047419328.1:c.877C>T, XM_047419327.1:c.877C>A, XM_047419327.1:c.877C>G, XM_047419327.1:c.877C>T, XM_047419330.1:c.877C>A, XM_047419330.1:c.877C>G, XM_047419330.1:c.877C>T, XM_047419323.1:c.931C>A, XM_047419323.1:c.931C>G, XM_047419323.1:c.931C>T, XM_047419325.1:c.931C>A, XM_047419325.1:c.931C>G, XM_047419325.1:c.931C>T, XM_047419319.1:c.931C>A, XM_047419319.1:c.931C>G, XM_047419319.1:c.931C>T, NP_001945.3:p.Leu293Met, NP_001945.3:p.Leu293Val, NP_054699.2:p.Leu293Met, NP_054699.2:p.Leu293Val, NP_054700.2:p.Leu293Met, NP_054700.2:p.Leu293Val, NP_001189452.2:p.Leu293Met, NP_001189452.2:p.Leu293Val, NP_001284583.1:p.Leu293Met, NP_001284583.1:p.Leu293Val, NP_001284582.1:p.Leu293Met, NP_001284582.1:p.Leu293Val, NP_001284581.1:p.Leu293Met, NP_001284581.1:p.Leu293Val, NP_001374832.1:p.Leu293Met, NP_001374832.1:p.Leu293Val, NP_001374830.1:p.Leu293Met, NP_001374830.1:p.Leu293Val, NP_001374828.1:p.Leu293Met, NP_001374828.1:p.Leu293Val, NP_001374824.1:p.Leu293Met, NP_001374824.1:p.Leu293Val, NP_001374826.1:p.Leu293Met, NP_001374826.1:p.Leu293Val, NP_001374831.1:p.Leu293Met, NP_001374831.1:p.Leu293Val, NP_001374823.1:p.Leu293Met, NP_001374823.1:p.Leu293Val, NP_001374840.1:p.Leu293Met, NP_001374840.1:p.Leu293Val, NP_001374844.1:p.Leu293Met, NP_001374844.1:p.Leu293Val, NP_001374822.1:p.Leu293Met, NP_001374822.1:p.Leu293Val, NP_001374846.1:p.Leu293Met, NP_001374846.1:p.Leu293Val, NP_001374845.1:p.Leu293Met, NP_001374845.1:p.Leu293Val, NP_001374843.1:p.Leu293Met, NP_001374843.1:p.Leu293Val, NP_001374841.1:p.Leu293Met, NP_001374841.1:p.Leu293Val, NP_001374833.1:p.Leu293Met, NP_001374833.1:p.Leu293Val, NP_001374847.1:p.Leu293Met, NP_001374847.1:p.Leu293Val, NP_001374825.1:p.Leu293Met, NP_001374825.1:p.Leu293Val, NP_001374838.1:p.Leu293Met, NP_001374838.1:p.Leu293Val, NP_001374835.1:p.Leu293Met, NP_001374835.1:p.Leu293Val, NP_001374821.1:p.Leu293Met, NP_001374821.1:p.Leu293Val, NP_001374827.1:p.Leu293Met, NP_001374827.1:p.Leu293Val, NP_001374829.1:p.Leu293Met, NP_001374829.1:p.Leu293Val, NP_001374837.1:p.Leu293Met, NP_001374837.1:p.Leu293Val, NP_001374839.1:p.Leu293Met, NP_001374839.1:p.Leu293Val, NP_001374836.1:p.Leu293Met, NP_001374836.1:p.Leu293Val, NP_001374834.1:p.Leu293Met, NP_001374834.1:p.Leu293Val, NP_001374842.1:p.Leu293Met, NP_001374842.1:p.Leu293Val, NP_001189450.1:p.Leu293Met, NP_001189450.1:p.Leu293Val, NP_001189451.1:p.Leu293Met, NP_001189451.1:p.Leu293Val, XP_011513189.1:p.Leu293Met, XP_011513189.1:p.Leu293Val, XP_016866757.1:p.Leu293Met, XP_016866757.1:p.Leu293Val, XP_024302309.1:p.Leu293Met, XP_024302309.1:p.Leu293Val, XP_024302308.1:p.Leu293Met, XP_024302308.1:p.Leu293Val, XP_047275274.1:p.Leu311Met, XP_047275274.1:p.Leu311Val, XP_047275277.1:p.Leu311Met, XP_047275277.1:p.Leu311Val, XP_047275280.1:p.Leu311Met, XP_047275280.1:p.Leu311Val, XP_047275276.1:p.Leu311Met, XP_047275276.1:p.Leu311Val, XP_047275289.1:p.Leu311Met, XP_047275289.1:p.Leu311Val, XP_047275290.1:p.Leu311Met, XP_047275290.1:p.Leu311Val, XP_047275282.1:p.Leu311Met, XP_047275282.1:p.Leu311Val, XP_047275285.1:p.Leu293Met, XP_047275285.1:p.Leu293Val, XP_047275287.1:p.Leu311Met, XP_047275287.1:p.Leu311Val, XP_047275288.1:p.Leu311Met, XP_047275288.1:p.Leu311Val, XP_047275278.1:p.Leu311Met, XP_047275278.1:p.Leu311Val, XP_011513186.1:p.Leu293Met, XP_011513186.1:p.Leu293Val, XP_047275284.1:p.Leu293Met, XP_047275284.1:p.Leu293Val, XP_047275283.1:p.Leu293Met, XP_047275283.1:p.Leu293Val, XP_047275286.1:p.Leu293Met, XP_047275286.1:p.Leu293Val, XP_047275279.1:p.Leu311Met, XP_047275279.1:p.Leu311Val, XP_047275281.1:p.Leu311Met, XP_047275281.1:p.Leu311Val, XP_047275275.1:p.Leu311Met, XP_047275275.1:p.Leu311Val

                    10.

                    rs1482623572 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      6:30895502 (GRCh38)
                      6:30863279 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:30895501:A:G
                      Gene:
                      DDR1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000045/12 (TOPMED)
                      HGVS:
                      NC_000006.12:g.30895502A>G, NC_000006.11:g.30863279A>G, NG_029066.1:g.16419A>G, NM_013993.3:c.1612A>G, NM_013993.2:c.1612A>G, NM_013994.3:c.1612A>G, NM_013994.2:c.1612A>G, NM_001297654.2:c.1612A>G, NM_001297654.1:c.1612A>G, NM_001387903.1:c.1612A>G, NM_001387901.1:c.1612A>G, NM_001387899.1:c.1612A>G, NM_001387895.1:c.1612A>G, NM_001387897.1:c.1612A>G, NM_001387902.1:c.1612A>G, NM_001387894.1:c.1612A>G, NM_001387893.1:c.1612A>G, NM_001387904.1:c.1612A>G, NM_001387896.1:c.1612A>G, NM_001387892.1:c.1612A>G, NM_001387898.1:c.1612A>G, NM_001387900.1:c.1612A>G, NT_113891.3:g.2375273A>G, NT_113891.2:g.2375379A>G, NT_167248.2:g.2150672A>G, NT_167248.1:g.2156268A>G, NT_167246.2:g.2205740A>G, NT_167246.1:g.2211360A>G, NT_167245.2:g.2151812A>G, NT_167245.1:g.2157397A>G, XM_011514887.3:c.1612A>G, XM_011514887.2:c.1612A>G, XM_011514887.1:c.1612A>G, XM_017011268.3:c.1612A>G, XM_017011268.2:c.1612A>G, XM_017011268.1:c.1612A>G, XM_024446541.2:c.1612A>G, XM_024446541.1:c.1612A>G, XM_024446540.2:c.1612A>G, XM_024446540.1:c.1612A>G, XM_047419318.1:c.1666A>G, XM_047419321.1:c.1666A>G, XM_047419324.1:c.1666A>G, XM_047419320.1:c.1666A>G, XM_047419326.1:c.1666A>G, XM_047419329.1:c.1612A>G, XM_047419322.1:c.1666A>G, XM_011514884.2:c.1612A>G, XM_011514884.1:c.1612A>G, XM_047419328.1:c.1612A>G, XM_047419327.1:c.1612A>G, XM_047419330.1:c.1612A>G, XM_047419323.1:c.1666A>G, XM_047419325.1:c.1666A>G, XM_047419319.1:c.1666A>G, NP_054699.2:p.Thr538Ala, NP_054700.2:p.Thr538Ala, NP_001284583.1:p.Thr538Ala, NP_001374832.1:p.Thr538Ala, NP_001374830.1:p.Thr538Ala, NP_001374828.1:p.Thr538Ala, NP_001374824.1:p.Thr538Ala, NP_001374826.1:p.Thr538Ala, NP_001374831.1:p.Thr538Ala, NP_001374823.1:p.Thr538Ala, NP_001374822.1:p.Thr538Ala, NP_001374833.1:p.Thr538Ala, NP_001374825.1:p.Thr538Ala, NP_001374821.1:p.Thr538Ala, NP_001374827.1:p.Thr538Ala, NP_001374829.1:p.Thr538Ala, XP_011513189.1:p.Thr538Ala, XP_016866757.1:p.Thr538Ala, XP_024302309.1:p.Thr538Ala, XP_024302308.1:p.Thr538Ala, XP_047275274.1:p.Thr556Ala, XP_047275277.1:p.Thr556Ala, XP_047275280.1:p.Thr556Ala, XP_047275276.1:p.Thr556Ala, XP_047275282.1:p.Thr556Ala, XP_047275285.1:p.Thr538Ala, XP_047275278.1:p.Thr556Ala, XP_011513186.1:p.Thr538Ala, XP_047275284.1:p.Thr538Ala, XP_047275283.1:p.Thr538Ala, XP_047275286.1:p.Thr538Ala, XP_047275279.1:p.Thr556Ala, XP_047275281.1:p.Thr556Ala, XP_047275275.1:p.Thr556Ala

                      11.

                      rs1482000105 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        6:30892470 (GRCh38)
                        6:30860247 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:30892469:G:A,NC_000006.12:30892469:G:T
                        Gene:
                        DDR1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000006.12:g.30892470G>A, NC_000006.12:g.30892470G>T, NC_000006.11:g.30860247G>A, NC_000006.11:g.30860247G>T, NG_029066.1:g.13387G>A, NG_029066.1:g.13387G>T, NM_001954.5:c.1027G>A, NM_001954.5:c.1027G>T, NM_001954.4:c.1027G>A, NM_001954.4:c.1027G>T, NM_013993.3:c.1027G>A, NM_013993.3:c.1027G>T, NM_013993.2:c.1027G>A, NM_013993.2:c.1027G>T, NM_013994.3:c.1027G>A, NM_013994.3:c.1027G>T, NM_013994.2:c.1027G>A, NM_013994.2:c.1027G>T, NM_001202523.3:c.1027G>A, NM_001202523.3:c.1027G>T, NM_001202523.2:c.1081G>A, NM_001202523.2:c.1081G>T, NM_001202523.1:c.1081G>A, NM_001202523.1:c.1081G>T, NM_001297654.2:c.1027G>A, NM_001297654.2:c.1027G>T, NM_001297654.1:c.1027G>A, NM_001297654.1:c.1027G>T, NM_001297653.2:c.1027G>A, NM_001297653.2:c.1027G>T, NM_001297653.1:c.1027G>A, NM_001297653.1:c.1027G>T, NM_001297652.2:c.1027G>A, NM_001297652.2:c.1027G>T, NM_001297652.1:c.1027G>A, NM_001297652.1:c.1027G>T, NM_001387903.1:c.1027G>A, NM_001387903.1:c.1027G>T, NM_001387901.1:c.1027G>A, NM_001387901.1:c.1027G>T, NM_001387899.1:c.1027G>A, NM_001387899.1:c.1027G>T, NM_001387895.1:c.1027G>A, NM_001387895.1:c.1027G>T, NM_001387897.1:c.1027G>A, NM_001387897.1:c.1027G>T, NM_001387902.1:c.1027G>A, NM_001387902.1:c.1027G>T, NM_001387894.1:c.1027G>A, NM_001387894.1:c.1027G>T, NM_001387911.1:c.1027G>A, NM_001387911.1:c.1027G>T, NM_001387915.1:c.1027G>A, NM_001387915.1:c.1027G>T, NM_001387893.1:c.1027G>A, NM_001387893.1:c.1027G>T, NM_001387917.1:c.1027G>A, NM_001387917.1:c.1027G>T, NM_001387916.1:c.1027G>A, NM_001387916.1:c.1027G>T, NM_001387914.1:c.1027G>A, NM_001387914.1:c.1027G>T, NM_001387912.1:c.1027G>A, NM_001387912.1:c.1027G>T, NM_001387904.1:c.1027G>A, NM_001387904.1:c.1027G>T, NM_001387918.1:c.1027G>A, NM_001387918.1:c.1027G>T, NM_001387896.1:c.1027G>A, NM_001387896.1:c.1027G>T, NM_001387909.1:c.1027G>A, NM_001387909.1:c.1027G>T, NM_001387906.1:c.1027G>A, NM_001387906.1:c.1027G>T, NM_001387892.1:c.1027G>A, NM_001387892.1:c.1027G>T, NM_001387898.1:c.1027G>A, NM_001387898.1:c.1027G>T, NM_001387900.1:c.1027G>A, NM_001387900.1:c.1027G>T, NM_001387908.1:c.1027G>A, NM_001387908.1:c.1027G>T, NM_001387910.1:c.1027G>A, NM_001387910.1:c.1027G>T, NM_001387907.1:c.1027G>A, NM_001387907.1:c.1027G>T, NM_001387905.1:c.1027G>A, NM_001387905.1:c.1027G>T, NM_001387913.1:c.1027G>A, NM_001387913.1:c.1027G>T, NM_001202521.1:c.1027G>A, NM_001202521.1:c.1027G>T, NM_001202522.1:c.1027G>A, NM_001202522.1:c.1027G>T, NT_113891.3:g.2372241G>A, NT_113891.3:g.2372241G>T, NT_113891.2:g.2372347G>A, NT_113891.2:g.2372347G>T, NT_167248.2:g.2147640G>A, NT_167248.2:g.2147640G>T, NT_167248.1:g.2153236G>A, NT_167248.1:g.2153236G>T, NT_167246.2:g.2202708G>A, NT_167246.2:g.2202708G>T, NT_167246.1:g.2208328G>A, NT_167246.1:g.2208328G>T, NT_167245.2:g.2148780G>A, NT_167245.2:g.2148780G>T, NT_167245.1:g.2154365G>A, NT_167245.1:g.2154365G>T, XM_011514887.3:c.1027G>A, XM_011514887.3:c.1027G>T, XM_011514887.2:c.1027G>A, XM_011514887.2:c.1027G>T, XM_011514887.1:c.1027G>A, XM_011514887.1:c.1027G>T, XM_017011268.3:c.1027G>A, XM_017011268.3:c.1027G>T, XM_017011268.2:c.1027G>A, XM_017011268.2:c.1027G>T, XM_017011268.1:c.1027G>A, XM_017011268.1:c.1027G>T, XM_024446541.2:c.1027G>A, XM_024446541.2:c.1027G>T, XM_024446541.1:c.1027G>A, XM_024446541.1:c.1027G>T, XM_024446540.2:c.1027G>A, XM_024446540.2:c.1027G>T, XM_024446540.1:c.1027G>A, XM_024446540.1:c.1027G>T, XM_047419318.1:c.1081G>A, XM_047419318.1:c.1081G>T, XM_047419321.1:c.1081G>A, XM_047419321.1:c.1081G>T, XM_047419324.1:c.1081G>A, XM_047419324.1:c.1081G>T, XM_047419320.1:c.1081G>A, XM_047419320.1:c.1081G>T, XM_047419333.1:c.1081G>A, XM_047419333.1:c.1081G>T, XM_047419334.1:c.1081G>A, XM_047419334.1:c.1081G>T, NM_001410869.1:c.1081G>A, NM_001410869.1:c.1081G>T, XM_047419326.1:c.1081G>A, XM_047419326.1:c.1081G>T, XM_047419329.1:c.1027G>A, XM_047419329.1:c.1027G>T, XM_047419331.1:c.1081G>A, XM_047419331.1:c.1081G>T, XM_047419332.1:c.1081G>A, XM_047419332.1:c.1081G>T, XM_047419322.1:c.1081G>A, XM_047419322.1:c.1081G>T, XM_011514884.2:c.1027G>A, XM_011514884.2:c.1027G>T, XM_011514884.1:c.1027G>A, XM_011514884.1:c.1027G>T, XM_047419328.1:c.1027G>A, XM_047419328.1:c.1027G>T, XM_047419327.1:c.1027G>A, XM_047419327.1:c.1027G>T, XM_047419330.1:c.1027G>A, XM_047419330.1:c.1027G>T, XM_047419323.1:c.1081G>A, XM_047419323.1:c.1081G>T, XM_047419325.1:c.1081G>A, XM_047419325.1:c.1081G>T, XM_047419319.1:c.1081G>A, XM_047419319.1:c.1081G>T, NP_001945.3:p.Ala343Thr, NP_001945.3:p.Ala343Ser, NP_054699.2:p.Ala343Thr, NP_054699.2:p.Ala343Ser, NP_054700.2:p.Ala343Thr, NP_054700.2:p.Ala343Ser, NP_001189452.2:p.Ala343Thr, NP_001189452.2:p.Ala343Ser, NP_001284583.1:p.Ala343Thr, NP_001284583.1:p.Ala343Ser, NP_001284582.1:p.Ala343Thr, NP_001284582.1:p.Ala343Ser, NP_001284581.1:p.Ala343Thr, NP_001284581.1:p.Ala343Ser, NP_001374832.1:p.Ala343Thr, NP_001374832.1:p.Ala343Ser, NP_001374830.1:p.Ala343Thr, NP_001374830.1:p.Ala343Ser, NP_001374828.1:p.Ala343Thr, NP_001374828.1:p.Ala343Ser, NP_001374824.1:p.Ala343Thr, NP_001374824.1:p.Ala343Ser, NP_001374826.1:p.Ala343Thr, NP_001374826.1:p.Ala343Ser, NP_001374831.1:p.Ala343Thr, NP_001374831.1:p.Ala343Ser, NP_001374823.1:p.Ala343Thr, NP_001374823.1:p.Ala343Ser, NP_001374840.1:p.Ala343Thr, NP_001374840.1:p.Ala343Ser, NP_001374844.1:p.Ala343Thr, NP_001374844.1:p.Ala343Ser, NP_001374822.1:p.Ala343Thr, NP_001374822.1:p.Ala343Ser, NP_001374846.1:p.Ala343Thr, NP_001374846.1:p.Ala343Ser, NP_001374845.1:p.Ala343Thr, NP_001374845.1:p.Ala343Ser, NP_001374843.1:p.Ala343Thr, NP_001374843.1:p.Ala343Ser, NP_001374841.1:p.Ala343Thr, NP_001374841.1:p.Ala343Ser, NP_001374833.1:p.Ala343Thr, NP_001374833.1:p.Ala343Ser, NP_001374847.1:p.Ala343Thr, NP_001374847.1:p.Ala343Ser, NP_001374825.1:p.Ala343Thr, NP_001374825.1:p.Ala343Ser, NP_001374838.1:p.Ala343Thr, NP_001374838.1:p.Ala343Ser, NP_001374835.1:p.Ala343Thr, NP_001374835.1:p.Ala343Ser, NP_001374821.1:p.Ala343Thr, NP_001374821.1:p.Ala343Ser, NP_001374827.1:p.Ala343Thr, NP_001374827.1:p.Ala343Ser, NP_001374829.1:p.Ala343Thr, NP_001374829.1:p.Ala343Ser, NP_001374837.1:p.Ala343Thr, NP_001374837.1:p.Ala343Ser, NP_001374839.1:p.Ala343Thr, NP_001374839.1:p.Ala343Ser, NP_001374836.1:p.Ala343Thr, NP_001374836.1:p.Ala343Ser, NP_001374834.1:p.Ala343Thr, NP_001374834.1:p.Ala343Ser, NP_001374842.1:p.Ala343Thr, NP_001374842.1:p.Ala343Ser, NP_001189450.1:p.Ala343Thr, NP_001189450.1:p.Ala343Ser, NP_001189451.1:p.Ala343Thr, NP_001189451.1:p.Ala343Ser, XP_011513189.1:p.Ala343Thr, XP_011513189.1:p.Ala343Ser, XP_016866757.1:p.Ala343Thr, XP_016866757.1:p.Ala343Ser, XP_024302309.1:p.Ala343Thr, XP_024302309.1:p.Ala343Ser, XP_024302308.1:p.Ala343Thr, XP_024302308.1:p.Ala343Ser, XP_047275274.1:p.Ala361Thr, XP_047275274.1:p.Ala361Ser, XP_047275277.1:p.Ala361Thr, XP_047275277.1:p.Ala361Ser, XP_047275280.1:p.Ala361Thr, XP_047275280.1:p.Ala361Ser, XP_047275276.1:p.Ala361Thr, XP_047275276.1:p.Ala361Ser, XP_047275289.1:p.Ala361Thr, XP_047275289.1:p.Ala361Ser, XP_047275290.1:p.Ala361Thr, XP_047275290.1:p.Ala361Ser, XP_047275282.1:p.Ala361Thr, XP_047275282.1:p.Ala361Ser, XP_047275285.1:p.Ala343Thr, XP_047275285.1:p.Ala343Ser, XP_047275287.1:p.Ala361Thr, XP_047275287.1:p.Ala361Ser, XP_047275288.1:p.Ala361Thr, XP_047275288.1:p.Ala361Ser, XP_047275278.1:p.Ala361Thr, XP_047275278.1:p.Ala361Ser, XP_011513186.1:p.Ala343Thr, XP_011513186.1:p.Ala343Ser, XP_047275284.1:p.Ala343Thr, XP_047275284.1:p.Ala343Ser, XP_047275283.1:p.Ala343Thr, XP_047275283.1:p.Ala343Ser, XP_047275286.1:p.Ala343Thr, XP_047275286.1:p.Ala343Ser, XP_047275279.1:p.Ala361Thr, XP_047275279.1:p.Ala361Ser, XP_047275281.1:p.Ala361Thr, XP_047275281.1:p.Ala361Ser, XP_047275275.1:p.Ala361Thr, XP_047275275.1:p.Ala361Ser

                        12.

                        rs1481666075 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          6:30896712 (GRCh38)
                          6:30864489 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:30896711:T:G
                          Gene:
                          DDR1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.30896712T>G, NC_000006.11:g.30864489T>G, NG_029066.1:g.17629T>G, NM_001954.5:c.1605T>G, NM_001954.4:c.1605T>G, NM_013993.3:c.1716T>G, NM_013993.2:c.1716T>G, NM_013994.3:c.1716T>G, NM_013994.2:c.1716T>G, NM_001202523.3:c.1605T>G, NM_001202523.2:c.1659T>G, NM_001202523.1:c.1659T>G, NM_001297654.2:c.1716T>G, NM_001297654.1:c.1716T>G, NM_001297653.2:c.1605T>G, NM_001297653.1:c.1605T>G, NM_001297652.2:c.1605T>G, NM_001297652.1:c.1605T>G, NM_001387903.1:c.1716T>G, NM_001387901.1:c.1716T>G, NM_001387899.1:c.1716T>G, NM_001387895.1:c.1716T>G, NM_001387897.1:c.1716T>G, NM_001387902.1:c.1716T>G, NM_001387894.1:c.1716T>G, NM_001387911.1:c.1605T>G, NM_001387915.1:c.1605T>G, NM_001387893.1:c.1716T>G, NM_001387917.1:c.1605T>G, NM_001387916.1:c.1605T>G, NM_001387914.1:c.1605T>G, NM_001387912.1:c.1605T>G, NM_001387904.1:c.1716T>G, NM_001387918.1:c.1605T>G, NM_001387896.1:c.1716T>G, NM_001387909.1:c.1605T>G, NM_001387906.1:c.1605T>G, NM_001387892.1:c.1716T>G, NM_001387898.1:c.1716T>G, NM_001387900.1:c.1716T>G, NM_001387908.1:c.1605T>G, NM_001387910.1:c.1605T>G, NM_001387907.1:c.1605T>G, NM_001387905.1:c.1605T>G, NM_001387913.1:c.1605T>G, NT_113891.3:g.2376483T>G, NT_113891.2:g.2376589T>G, NT_167248.2:g.2151882T>G, NT_167248.1:g.2157478T>G, NT_167246.2:g.2206950T>G, NT_167246.1:g.2212570T>G, NT_167245.2:g.2153022T>G, NT_167245.1:g.2158607T>G, XM_011514887.3:c.1716T>G, XM_011514887.2:c.1716T>G, XM_011514887.1:c.1716T>G, XM_017011268.3:c.1716T>G, XM_017011268.2:c.1716T>G, XM_017011268.1:c.1716T>G, XM_024446541.2:c.1716T>G, XM_024446541.1:c.1716T>G, XM_024446540.2:c.1716T>G, XM_024446540.1:c.1716T>G, XM_047419318.1:c.1770T>G, XM_047419321.1:c.1770T>G, XM_047419324.1:c.1770T>G, XM_047419320.1:c.1770T>G, XM_047419333.1:c.1659T>G, XM_047419334.1:c.1659T>G, NM_001410869.1:c.1659T>G, XM_047419326.1:c.1770T>G, XM_047419329.1:c.1716T>G, XM_047419331.1:c.1659T>G, XM_047419332.1:c.1659T>G, XM_047419322.1:c.1770T>G, XM_011514884.2:c.1716T>G, XM_011514884.1:c.1716T>G, XM_047419328.1:c.1716T>G, XM_047419327.1:c.1716T>G, XM_047419330.1:c.1716T>G, XM_047419323.1:c.1770T>G, XM_047419325.1:c.1770T>G, XM_047419319.1:c.1770T>G

                          13.

                          rs1481324804 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            6:30892310 (GRCh38)
                            6:30860087 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:30892309:C:A,NC_000006.12:30892309:C:T
                            Gene:
                            DDR1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000006.12:g.30892310C>A, NC_000006.12:g.30892310C>T, NC_000006.11:g.30860087C>A, NC_000006.11:g.30860087C>T, NG_029066.1:g.13227C>A, NG_029066.1:g.13227C>T, NM_001954.5:c.867C>A, NM_001954.5:c.867C>T, NM_001954.4:c.867C>A, NM_001954.4:c.867C>T, NM_013993.3:c.867C>A, NM_013993.3:c.867C>T, NM_013993.2:c.867C>A, NM_013993.2:c.867C>T, NM_013994.3:c.867C>A, NM_013994.3:c.867C>T, NM_013994.2:c.867C>A, NM_013994.2:c.867C>T, NM_001202523.3:c.867C>A, NM_001202523.3:c.867C>T, NM_001202523.2:c.921C>A, NM_001202523.2:c.921C>T, NM_001202523.1:c.921C>A, NM_001202523.1:c.921C>T, NM_001297654.2:c.867C>A, NM_001297654.2:c.867C>T, NM_001297654.1:c.867C>A, NM_001297654.1:c.867C>T, NM_001297653.2:c.867C>A, NM_001297653.2:c.867C>T, NM_001297653.1:c.867C>A, NM_001297653.1:c.867C>T, NM_001297652.2:c.867C>A, NM_001297652.2:c.867C>T, NM_001297652.1:c.867C>A, NM_001297652.1:c.867C>T, NM_001387903.1:c.867C>A, NM_001387903.1:c.867C>T, NM_001387901.1:c.867C>A, NM_001387901.1:c.867C>T, NM_001387899.1:c.867C>A, NM_001387899.1:c.867C>T, NM_001387895.1:c.867C>A, NM_001387895.1:c.867C>T, NM_001387897.1:c.867C>A, NM_001387897.1:c.867C>T, NM_001387902.1:c.867C>A, NM_001387902.1:c.867C>T, NM_001387894.1:c.867C>A, NM_001387894.1:c.867C>T, NM_001387911.1:c.867C>A, NM_001387911.1:c.867C>T, NM_001387915.1:c.867C>A, NM_001387915.1:c.867C>T, NM_001387893.1:c.867C>A, NM_001387893.1:c.867C>T, NM_001387917.1:c.867C>A, NM_001387917.1:c.867C>T, NM_001387916.1:c.867C>A, NM_001387916.1:c.867C>T, NM_001387914.1:c.867C>A, NM_001387914.1:c.867C>T, NM_001387912.1:c.867C>A, NM_001387912.1:c.867C>T, NM_001387904.1:c.867C>A, NM_001387904.1:c.867C>T, NM_001387918.1:c.867C>A, NM_001387918.1:c.867C>T, NM_001387896.1:c.867C>A, NM_001387896.1:c.867C>T, NM_001387909.1:c.867C>A, NM_001387909.1:c.867C>T, NM_001387906.1:c.867C>A, NM_001387906.1:c.867C>T, NM_001387892.1:c.867C>A, NM_001387892.1:c.867C>T, NM_001387898.1:c.867C>A, NM_001387898.1:c.867C>T, NM_001387900.1:c.867C>A, NM_001387900.1:c.867C>T, NM_001387908.1:c.867C>A, NM_001387908.1:c.867C>T, NM_001387910.1:c.867C>A, NM_001387910.1:c.867C>T, NM_001387907.1:c.867C>A, NM_001387907.1:c.867C>T, NM_001387905.1:c.867C>A, NM_001387905.1:c.867C>T, NM_001387913.1:c.867C>A, NM_001387913.1:c.867C>T, NM_001202521.1:c.867C>A, NM_001202521.1:c.867C>T, NM_001202522.1:c.867C>A, NM_001202522.1:c.867C>T, NT_113891.3:g.2372081C>A, NT_113891.3:g.2372081C>T, NT_113891.2:g.2372187C>A, NT_113891.2:g.2372187C>T, NT_167248.2:g.2147480C>A, NT_167248.2:g.2147480C>T, NT_167248.1:g.2153076C>A, NT_167248.1:g.2153076C>T, NT_167246.2:g.2202548C>A, NT_167246.2:g.2202548C>T, NT_167246.1:g.2208168C>A, NT_167246.1:g.2208168C>T, NT_167245.2:g.2148620C>A, NT_167245.2:g.2148620C>T, NT_167245.1:g.2154205C>A, NT_167245.1:g.2154205C>T, XM_011514887.3:c.867C>A, XM_011514887.3:c.867C>T, XM_011514887.2:c.867C>A, XM_011514887.2:c.867C>T, XM_011514887.1:c.867C>A, XM_011514887.1:c.867C>T, XM_017011268.3:c.867C>A, XM_017011268.3:c.867C>T, XM_017011268.2:c.867C>A, XM_017011268.2:c.867C>T, XM_017011268.1:c.867C>A, XM_017011268.1:c.867C>T, XM_024446541.2:c.867C>A, XM_024446541.2:c.867C>T, XM_024446541.1:c.867C>A, XM_024446541.1:c.867C>T, XM_024446540.2:c.867C>A, XM_024446540.2:c.867C>T, XM_024446540.1:c.867C>A, XM_024446540.1:c.867C>T, XM_047419318.1:c.921C>A, XM_047419318.1:c.921C>T, XM_047419321.1:c.921C>A, XM_047419321.1:c.921C>T, XM_047419324.1:c.921C>A, XM_047419324.1:c.921C>T, XM_047419320.1:c.921C>A, XM_047419320.1:c.921C>T, XM_047419333.1:c.921C>A, XM_047419333.1:c.921C>T, XM_047419334.1:c.921C>A, XM_047419334.1:c.921C>T, NM_001410869.1:c.921C>A, NM_001410869.1:c.921C>T, XM_047419326.1:c.921C>A, XM_047419326.1:c.921C>T, XM_047419329.1:c.867C>A, XM_047419329.1:c.867C>T, XM_047419331.1:c.921C>A, XM_047419331.1:c.921C>T, XM_047419332.1:c.921C>A, XM_047419332.1:c.921C>T, XM_047419322.1:c.921C>A, XM_047419322.1:c.921C>T, XM_011514884.2:c.867C>A, XM_011514884.2:c.867C>T, XM_011514884.1:c.867C>A, XM_011514884.1:c.867C>T, XM_047419328.1:c.867C>A, XM_047419328.1:c.867C>T, XM_047419327.1:c.867C>A, XM_047419327.1:c.867C>T, XM_047419330.1:c.867C>A, XM_047419330.1:c.867C>T, XM_047419323.1:c.921C>A, XM_047419323.1:c.921C>T, XM_047419325.1:c.921C>A, XM_047419325.1:c.921C>T, XM_047419319.1:c.921C>A, XM_047419319.1:c.921C>T, NP_001945.3:p.Asn289Lys, NP_054699.2:p.Asn289Lys, NP_054700.2:p.Asn289Lys, NP_001189452.2:p.Asn289Lys, NP_001284583.1:p.Asn289Lys, NP_001284582.1:p.Asn289Lys, NP_001284581.1:p.Asn289Lys, NP_001374832.1:p.Asn289Lys, NP_001374830.1:p.Asn289Lys, NP_001374828.1:p.Asn289Lys, NP_001374824.1:p.Asn289Lys, NP_001374826.1:p.Asn289Lys, NP_001374831.1:p.Asn289Lys, NP_001374823.1:p.Asn289Lys, NP_001374840.1:p.Asn289Lys, NP_001374844.1:p.Asn289Lys, NP_001374822.1:p.Asn289Lys, NP_001374846.1:p.Asn289Lys, NP_001374845.1:p.Asn289Lys, NP_001374843.1:p.Asn289Lys, NP_001374841.1:p.Asn289Lys, NP_001374833.1:p.Asn289Lys, NP_001374847.1:p.Asn289Lys, NP_001374825.1:p.Asn289Lys, NP_001374838.1:p.Asn289Lys, NP_001374835.1:p.Asn289Lys, NP_001374821.1:p.Asn289Lys, NP_001374827.1:p.Asn289Lys, NP_001374829.1:p.Asn289Lys, NP_001374837.1:p.Asn289Lys, NP_001374839.1:p.Asn289Lys, NP_001374836.1:p.Asn289Lys, NP_001374834.1:p.Asn289Lys, NP_001374842.1:p.Asn289Lys, NP_001189450.1:p.Asn289Lys, NP_001189451.1:p.Asn289Lys, XP_011513189.1:p.Asn289Lys, XP_016866757.1:p.Asn289Lys, XP_024302309.1:p.Asn289Lys, XP_024302308.1:p.Asn289Lys, XP_047275274.1:p.Asn307Lys, XP_047275277.1:p.Asn307Lys, XP_047275280.1:p.Asn307Lys, XP_047275276.1:p.Asn307Lys, XP_047275289.1:p.Asn307Lys, XP_047275290.1:p.Asn307Lys, XP_047275282.1:p.Asn307Lys, XP_047275285.1:p.Asn289Lys, XP_047275287.1:p.Asn307Lys, XP_047275288.1:p.Asn307Lys, XP_047275278.1:p.Asn307Lys, XP_011513186.1:p.Asn289Lys, XP_047275284.1:p.Asn289Lys, XP_047275283.1:p.Asn289Lys, XP_047275286.1:p.Asn289Lys, XP_047275279.1:p.Asn307Lys, XP_047275281.1:p.Asn307Lys, XP_047275275.1:p.Asn307Lys

                            14.

                            rs1481008695 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:30891033 (GRCh38)
                              6:30858810 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:30891032:G:A
                              Gene:
                              DDR1 (Varview), MIR4640 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.30891033G>A, NC_000006.11:g.30858810G>A, NG_029066.1:g.11950G>A, NM_001954.5:c.478G>A, NM_001954.4:c.478G>A, NM_013993.3:c.478G>A, NM_013993.2:c.478G>A, NM_013994.3:c.478G>A, NM_013994.2:c.478G>A, NM_001202523.3:c.478G>A, NM_001202523.2:c.532G>A, NM_001202523.1:c.532G>A, NM_001297654.2:c.478G>A, NM_001297654.1:c.478G>A, NM_001297653.2:c.478G>A, NM_001297653.1:c.478G>A, NM_001297652.2:c.478G>A, NM_001297652.1:c.478G>A, NM_001387903.1:c.478G>A, NM_001387901.1:c.478G>A, NM_001387899.1:c.478G>A, NM_001387895.1:c.478G>A, NM_001387897.1:c.478G>A, NM_001387902.1:c.478G>A, NM_001387894.1:c.478G>A, NM_001387911.1:c.478G>A, NM_001387915.1:c.478G>A, NM_001387893.1:c.478G>A, NM_001387917.1:c.478G>A, NM_001387916.1:c.478G>A, NM_001387914.1:c.478G>A, NM_001387912.1:c.478G>A, NM_001387904.1:c.478G>A, NM_001387918.1:c.478G>A, NM_001387896.1:c.478G>A, NM_001387909.1:c.478G>A, NM_001387906.1:c.478G>A, NM_001387892.1:c.478G>A, NM_001387898.1:c.478G>A, NM_001387900.1:c.478G>A, NM_001387908.1:c.478G>A, NM_001387910.1:c.478G>A, NM_001387907.1:c.478G>A, NM_001387905.1:c.478G>A, NM_001387913.1:c.478G>A, NM_001202521.1:c.478G>A, NM_001202522.1:c.478G>A, NT_113891.3:g.2370802G>A, NT_113891.2:g.2370908G>A, NT_167248.2:g.2146201G>A, NT_167248.1:g.2151797G>A, NT_167246.2:g.2201275G>A, NT_167246.1:g.2206895G>A, NT_167245.2:g.2147327G>A, NT_167245.1:g.2152912G>A, NT_167247.2:g.2235182G>A, NT_167247.1:g.2240767G>A, XM_011514887.3:c.478G>A, XM_011514887.2:c.478G>A, XM_011514887.1:c.478G>A, XM_017011268.3:c.478G>A, XM_017011268.2:c.478G>A, XM_017011268.1:c.478G>A, XM_024446541.2:c.478G>A, XM_024446541.1:c.478G>A, XM_024446540.2:c.478G>A, XM_024446540.1:c.478G>A, XM_047419318.1:c.532G>A, XM_047419321.1:c.532G>A, XM_047419324.1:c.532G>A, XM_047419320.1:c.532G>A, XM_047419333.1:c.532G>A, XM_047419334.1:c.532G>A, NM_001410869.1:c.532G>A, XM_047419326.1:c.532G>A, XM_047419329.1:c.478G>A, XM_047419331.1:c.532G>A, XM_047419332.1:c.532G>A, XM_047419322.1:c.532G>A, XM_011514884.2:c.478G>A, XM_011514884.1:c.478G>A, XM_047419328.1:c.478G>A, XM_047419327.1:c.478G>A, XM_047419330.1:c.478G>A, XM_047419323.1:c.532G>A, XM_047419325.1:c.532G>A, XM_047419319.1:c.532G>A, NP_001945.3:p.Val160Ile, NP_054699.2:p.Val160Ile, NP_054700.2:p.Val160Ile, NP_001189452.2:p.Val160Ile, NP_001284583.1:p.Val160Ile, NP_001284582.1:p.Val160Ile, NP_001284581.1:p.Val160Ile, NP_001374832.1:p.Val160Ile, NP_001374830.1:p.Val160Ile, NP_001374828.1:p.Val160Ile, NP_001374824.1:p.Val160Ile, NP_001374826.1:p.Val160Ile, NP_001374831.1:p.Val160Ile, NP_001374823.1:p.Val160Ile, NP_001374840.1:p.Val160Ile, NP_001374844.1:p.Val160Ile, NP_001374822.1:p.Val160Ile, NP_001374846.1:p.Val160Ile, NP_001374845.1:p.Val160Ile, NP_001374843.1:p.Val160Ile, NP_001374841.1:p.Val160Ile, NP_001374833.1:p.Val160Ile, NP_001374847.1:p.Val160Ile, NP_001374825.1:p.Val160Ile, NP_001374838.1:p.Val160Ile, NP_001374835.1:p.Val160Ile, NP_001374821.1:p.Val160Ile, NP_001374827.1:p.Val160Ile, NP_001374829.1:p.Val160Ile, NP_001374837.1:p.Val160Ile, NP_001374839.1:p.Val160Ile, NP_001374836.1:p.Val160Ile, NP_001374834.1:p.Val160Ile, NP_001374842.1:p.Val160Ile, NP_001189450.1:p.Val160Ile, NP_001189451.1:p.Val160Ile, XP_011513189.1:p.Val160Ile, XP_016866757.1:p.Val160Ile, XP_024302309.1:p.Val160Ile, XP_024302308.1:p.Val160Ile, XP_047275274.1:p.Val178Ile, XP_047275277.1:p.Val178Ile, XP_047275280.1:p.Val178Ile, XP_047275276.1:p.Val178Ile, XP_047275289.1:p.Val178Ile, XP_047275290.1:p.Val178Ile, XP_047275282.1:p.Val178Ile, XP_047275285.1:p.Val160Ile, XP_047275287.1:p.Val178Ile, XP_047275288.1:p.Val178Ile, XP_047275278.1:p.Val178Ile, XP_011513186.1:p.Val160Ile, XP_047275284.1:p.Val160Ile, XP_047275283.1:p.Val160Ile, XP_047275286.1:p.Val160Ile, XP_047275279.1:p.Val178Ile, XP_047275281.1:p.Val178Ile, XP_047275275.1:p.Val178Ile

                              15.

                              rs1479028769 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                6:30899228 (GRCh38)
                                6:30867005 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:30899227:T:C,NC_000006.12:30899227:T:G
                                Gene:
                                DDR1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,3_prime_UTR_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000006.12:g.30899228T>C, NC_000006.12:g.30899228T>G, NC_000006.11:g.30867005T>C, NC_000006.11:g.30867005T>G, NG_029066.1:g.20145T>C, NG_029066.1:g.20145T>G, NM_001954.5:c.2563T>C, NM_001954.5:c.2563T>G, NM_001954.4:c.2563T>C, NM_001954.4:c.2563T>G, NM_013993.3:c.2674T>C, NM_013993.3:c.2674T>G, NM_013993.2:c.2674T>C, NM_013993.2:c.2674T>G, NM_013994.3:c.2692T>C, NM_013994.3:c.2692T>G, NM_013994.2:c.2692T>C, NM_013994.2:c.2692T>G, NM_001202523.3:c.2563T>C, NM_001202523.3:c.2563T>G, NM_001202523.2:c.2617T>C, NM_001202523.2:c.2617T>G, NM_001202523.1:c.2617T>C, NM_001202523.1:c.2617T>G, NM_001297654.2:c.2674T>C, NM_001297654.2:c.2674T>G, NM_001297654.1:c.2674T>C, NM_001297654.1:c.2674T>G, NM_001297653.2:c.2563T>C, NM_001297653.2:c.2563T>G, NM_001297653.1:c.2563T>C, NM_001297653.1:c.2563T>G, NM_001297652.2:c.2563T>C, NM_001297652.2:c.2563T>G, NM_001297652.1:c.2563T>C, NM_001297652.1:c.2563T>G, NM_001387903.1:c.2674T>C, NM_001387903.1:c.2674T>G, NM_001387901.1:c.2674T>C, NM_001387901.1:c.2674T>G, NM_001387899.1:c.2674T>C, NM_001387899.1:c.2674T>G, NM_001387895.1:c.2674T>C, NM_001387895.1:c.2674T>G, NM_001387897.1:c.2674T>C, NM_001387897.1:c.2674T>G, NM_001387902.1:c.2674T>C, NM_001387902.1:c.2674T>G, NM_001387894.1:c.2674T>C, NM_001387894.1:c.2674T>G, NM_001387911.1:c.2563T>C, NM_001387911.1:c.2563T>G, NM_001387915.1:c.2563T>C, NM_001387915.1:c.2563T>G, NM_001387893.1:c.2674T>C, NM_001387893.1:c.2674T>G, NM_001387917.1:c.2563T>C, NM_001387917.1:c.2563T>G, NM_001387916.1:c.2563T>C, NM_001387916.1:c.2563T>G, NM_001387914.1:c.2563T>C, NM_001387914.1:c.2563T>G, NM_001387912.1:c.2563T>C, NM_001387912.1:c.2563T>G, NM_001387904.1:c.2674T>C, NM_001387904.1:c.2674T>G, NM_001387918.1:c.2563T>C, NM_001387918.1:c.2563T>G, NM_001387896.1:c.2674T>C, NM_001387896.1:c.2674T>G, NM_001387909.1:c.2563T>C, NM_001387909.1:c.2563T>G, NM_001387906.1:c.2581T>C, NM_001387906.1:c.2581T>G, NM_001387892.1:c.2692T>C, NM_001387892.1:c.2692T>G, NM_001387898.1:c.2674T>C, NM_001387898.1:c.2674T>G, NM_001387900.1:c.2674T>C, NM_001387900.1:c.2674T>G, NM_001387908.1:c.2563T>C, NM_001387908.1:c.2563T>G, NM_001387910.1:c.2563T>C, NM_001387910.1:c.2563T>G, NM_001387907.1:c.2581T>C, NM_001387907.1:c.2581T>G, NM_001387905.1:c.2581T>C, NM_001387905.1:c.2581T>G, NM_001387913.1:c.2563T>C, NM_001387913.1:c.2563T>G, NM_001202521.1:c.*791T>C, NM_001202521.1:c.*791T>G, NM_001202522.1:c.2236T>C, NM_001202522.1:c.2236T>G, NT_113891.3:g.2378999T>C, NT_113891.3:g.2378999T>G, NT_113891.2:g.2379105T>C, NT_113891.2:g.2379105T>G, NT_167248.2:g.2154398T>C, NT_167248.2:g.2154398T>G, NT_167248.1:g.2159994T>C, NT_167248.1:g.2159994T>G, NT_167246.2:g.2209466T>C, NT_167246.2:g.2209466T>G, NT_167246.1:g.2215086T>C, NT_167246.1:g.2215086T>G, NT_167245.2:g.2155538T>C, NT_167245.2:g.2155538T>G, NT_167245.1:g.2161123T>C, NT_167245.1:g.2161123T>G, XM_011514887.3:c.2692T>C, XM_011514887.3:c.2692T>G, XM_011514887.2:c.2692T>C, XM_011514887.2:c.2692T>G, XM_011514887.1:c.2692T>C, XM_011514887.1:c.2692T>G, XM_017011268.3:c.2692T>C, XM_017011268.3:c.2692T>G, XM_017011268.2:c.2692T>C, XM_017011268.2:c.2692T>G, XM_017011268.1:c.2692T>C, XM_017011268.1:c.2692T>G, XM_024446541.2:c.2692T>C, XM_024446541.2:c.2692T>G, XM_024446541.1:c.2692T>C, XM_024446541.1:c.2692T>G, XM_024446540.2:c.2692T>C, XM_024446540.2:c.2692T>G, XM_024446540.1:c.2692T>C, XM_024446540.1:c.2692T>G, XM_047419318.1:c.2746T>C, XM_047419318.1:c.2746T>G, XM_047419321.1:c.2746T>C, XM_047419321.1:c.2746T>G, XM_047419324.1:c.2746T>C, XM_047419324.1:c.2746T>G, XM_047419320.1:c.2746T>C, XM_047419320.1:c.2746T>G, XM_047419333.1:c.2617T>C, XM_047419333.1:c.2617T>G, XM_047419334.1:c.2617T>C, XM_047419334.1:c.2617T>G, NM_001410869.1:c.2617T>C, NM_001410869.1:c.2617T>G, XM_047419326.1:c.2728T>C, XM_047419326.1:c.2728T>G, XM_047419329.1:c.2692T>C, XM_047419329.1:c.2692T>G, XM_047419331.1:c.2635T>C, XM_047419331.1:c.2635T>G, XM_047419332.1:c.2617T>C, XM_047419332.1:c.2617T>G, XM_047419322.1:c.2746T>C, XM_047419322.1:c.2746T>G, XM_011514884.2:c.2692T>C, XM_011514884.2:c.2692T>G, XM_011514884.1:c.2692T>C, XM_011514884.1:c.2692T>G, XM_047419328.1:c.2692T>C, XM_047419328.1:c.2692T>G, XM_047419327.1:c.2692T>C, XM_047419327.1:c.2692T>G, XM_047419330.1:c.2692T>C, XM_047419330.1:c.2692T>G, XM_047419323.1:c.2746T>C, XM_047419323.1:c.2746T>G, XM_047419325.1:c.2728T>C, XM_047419325.1:c.2728T>G, XM_047419319.1:c.2746T>C, XM_047419319.1:c.2746T>G, NP_001945.3:p.Ser855Pro, NP_001945.3:p.Ser855Ala, NP_054699.2:p.Ser892Pro, NP_054699.2:p.Ser892Ala, NP_054700.2:p.Ser898Pro, NP_054700.2:p.Ser898Ala, NP_001189452.2:p.Ser855Pro, NP_001189452.2:p.Ser855Ala, NP_001284583.1:p.Ser892Pro, NP_001284583.1:p.Ser892Ala, NP_001284582.1:p.Ser855Pro, NP_001284582.1:p.Ser855Ala, NP_001284581.1:p.Ser855Pro, NP_001284581.1:p.Ser855Ala, NP_001374832.1:p.Ser892Pro, NP_001374832.1:p.Ser892Ala, NP_001374830.1:p.Ser892Pro, NP_001374830.1:p.Ser892Ala, NP_001374828.1:p.Ser892Pro, NP_001374828.1:p.Ser892Ala, NP_001374824.1:p.Ser892Pro, NP_001374824.1:p.Ser892Ala, NP_001374826.1:p.Ser892Pro, NP_001374826.1:p.Ser892Ala, NP_001374831.1:p.Ser892Pro, NP_001374831.1:p.Ser892Ala, NP_001374823.1:p.Ser892Pro, NP_001374823.1:p.Ser892Ala, NP_001374840.1:p.Ser855Pro, NP_001374840.1:p.Ser855Ala, NP_001374844.1:p.Ser855Pro, NP_001374844.1:p.Ser855Ala, NP_001374822.1:p.Ser892Pro, NP_001374822.1:p.Ser892Ala, NP_001374846.1:p.Ser855Pro, NP_001374846.1:p.Ser855Ala, NP_001374845.1:p.Ser855Pro, NP_001374845.1:p.Ser855Ala, NP_001374843.1:p.Ser855Pro, NP_001374843.1:p.Ser855Ala, NP_001374841.1:p.Ser855Pro, NP_001374841.1:p.Ser855Ala, NP_001374833.1:p.Ser892Pro, NP_001374833.1:p.Ser892Ala, NP_001374847.1:p.Ser855Pro, NP_001374847.1:p.Ser855Ala, NP_001374825.1:p.Ser892Pro, NP_001374825.1:p.Ser892Ala, NP_001374838.1:p.Ser855Pro, NP_001374838.1:p.Ser855Ala, NP_001374835.1:p.Ser861Pro, NP_001374835.1:p.Ser861Ala, NP_001374821.1:p.Ser898Pro, NP_001374821.1:p.Ser898Ala, NP_001374827.1:p.Ser892Pro, NP_001374827.1:p.Ser892Ala, NP_001374829.1:p.Ser892Pro, NP_001374829.1:p.Ser892Ala, NP_001374837.1:p.Ser855Pro, NP_001374837.1:p.Ser855Ala, NP_001374839.1:p.Ser855Pro, NP_001374839.1:p.Ser855Ala, NP_001374836.1:p.Ser861Pro, NP_001374836.1:p.Ser861Ala, NP_001374834.1:p.Ser861Pro, NP_001374834.1:p.Ser861Ala, NP_001374842.1:p.Ser855Pro, NP_001374842.1:p.Ser855Ala, NP_001189451.1:p.Ser746Pro, NP_001189451.1:p.Ser746Ala, XP_011513189.1:p.Ser898Pro, XP_011513189.1:p.Ser898Ala, XP_016866757.1:p.Ser898Pro, XP_016866757.1:p.Ser898Ala, XP_024302309.1:p.Ser898Pro, XP_024302309.1:p.Ser898Ala, XP_024302308.1:p.Ser898Pro, XP_024302308.1:p.Ser898Ala, XP_047275274.1:p.Ser916Pro, XP_047275274.1:p.Ser916Ala, XP_047275277.1:p.Ser916Pro, XP_047275277.1:p.Ser916Ala, XP_047275280.1:p.Ser916Pro, XP_047275280.1:p.Ser916Ala, XP_047275276.1:p.Ser916Pro, XP_047275276.1:p.Ser916Ala, XP_047275289.1:p.Ser873Pro, XP_047275289.1:p.Ser873Ala, XP_047275290.1:p.Ser873Pro, XP_047275290.1:p.Ser873Ala, XP_047275282.1:p.Ser910Pro, XP_047275282.1:p.Ser910Ala, XP_047275285.1:p.Ser898Pro, XP_047275285.1:p.Ser898Ala, XP_047275287.1:p.Ser879Pro, XP_047275287.1:p.Ser879Ala, XP_047275288.1:p.Ser873Pro, XP_047275288.1:p.Ser873Ala, XP_047275278.1:p.Ser916Pro, XP_047275278.1:p.Ser916Ala, XP_011513186.1:p.Ser898Pro, XP_011513186.1:p.Ser898Ala, XP_047275284.1:p.Ser898Pro, XP_047275284.1:p.Ser898Ala, XP_047275283.1:p.Ser898Pro, XP_047275283.1:p.Ser898Ala, XP_047275286.1:p.Ser898Pro, XP_047275286.1:p.Ser898Ala, XP_047275279.1:p.Ser916Pro, XP_047275279.1:p.Ser916Ala, XP_047275281.1:p.Ser910Pro, XP_047275281.1:p.Ser910Ala, XP_047275275.1:p.Ser916Pro, XP_047275275.1:p.Ser916Ala

                                16.

                                rs1478976035 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G,T [Show Flanks]
                                  Chromosome:
                                  6:30899192 (GRCh38)
                                  6:30866969 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:30899191:C:A,NC_000006.12:30899191:C:G,NC_000006.12:30899191:C:T
                                  Gene:
                                  DDR1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,3_prime_UTR_variant,missense_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.30899192C>A, NC_000006.12:g.30899192C>G, NC_000006.12:g.30899192C>T, NC_000006.11:g.30866969C>A, NC_000006.11:g.30866969C>G, NC_000006.11:g.30866969C>T, NG_029066.1:g.20109C>A, NG_029066.1:g.20109C>G, NG_029066.1:g.20109C>T, NM_001954.5:c.2527C>A, NM_001954.5:c.2527C>G, NM_001954.5:c.2527C>T, NM_001954.4:c.2527C>A, NM_001954.4:c.2527C>G, NM_001954.4:c.2527C>T, NM_013993.3:c.2638C>A, NM_013993.3:c.2638C>G, NM_013993.3:c.2638C>T, NM_013993.2:c.2638C>A, NM_013993.2:c.2638C>G, NM_013993.2:c.2638C>T, NM_013994.3:c.2656C>A, NM_013994.3:c.2656C>G, NM_013994.3:c.2656C>T, NM_013994.2:c.2656C>A, NM_013994.2:c.2656C>G, NM_013994.2:c.2656C>T, NM_001202523.3:c.2527C>A, NM_001202523.3:c.2527C>G, NM_001202523.3:c.2527C>T, NM_001202523.2:c.2581C>A, NM_001202523.2:c.2581C>G, NM_001202523.2:c.2581C>T, NM_001202523.1:c.2581C>A, NM_001202523.1:c.2581C>G, NM_001202523.1:c.2581C>T, NM_001297654.2:c.2638C>A, NM_001297654.2:c.2638C>G, NM_001297654.2:c.2638C>T, NM_001297654.1:c.2638C>A, NM_001297654.1:c.2638C>G, NM_001297654.1:c.2638C>T, NM_001297653.2:c.2527C>A, NM_001297653.2:c.2527C>G, NM_001297653.2:c.2527C>T, NM_001297653.1:c.2527C>A, NM_001297653.1:c.2527C>G, NM_001297653.1:c.2527C>T, NM_001297652.2:c.2527C>A, NM_001297652.2:c.2527C>G, NM_001297652.2:c.2527C>T, NM_001297652.1:c.2527C>A, NM_001297652.1:c.2527C>G, NM_001297652.1:c.2527C>T, NM_001387903.1:c.2638C>A, NM_001387903.1:c.2638C>G, NM_001387903.1:c.2638C>T, NM_001387901.1:c.2638C>A, NM_001387901.1:c.2638C>G, NM_001387901.1:c.2638C>T, NM_001387899.1:c.2638C>A, NM_001387899.1:c.2638C>G, NM_001387899.1:c.2638C>T, NM_001387895.1:c.2638C>A, NM_001387895.1:c.2638C>G, NM_001387895.1:c.2638C>T, NM_001387897.1:c.2638C>A, NM_001387897.1:c.2638C>G, NM_001387897.1:c.2638C>T, NM_001387902.1:c.2638C>A, NM_001387902.1:c.2638C>G, NM_001387902.1:c.2638C>T, NM_001387894.1:c.2638C>A, NM_001387894.1:c.2638C>G, NM_001387894.1:c.2638C>T, NM_001387911.1:c.2527C>A, NM_001387911.1:c.2527C>G, NM_001387911.1:c.2527C>T, NM_001387915.1:c.2527C>A, NM_001387915.1:c.2527C>G, NM_001387915.1:c.2527C>T, NM_001387893.1:c.2638C>A, NM_001387893.1:c.2638C>G, NM_001387893.1:c.2638C>T, NM_001387917.1:c.2527C>A, NM_001387917.1:c.2527C>G, NM_001387917.1:c.2527C>T, NM_001387916.1:c.2527C>A, NM_001387916.1:c.2527C>G, NM_001387916.1:c.2527C>T, NM_001387914.1:c.2527C>A, NM_001387914.1:c.2527C>G, NM_001387914.1:c.2527C>T, NM_001387912.1:c.2527C>A, NM_001387912.1:c.2527C>G, NM_001387912.1:c.2527C>T, NM_001387904.1:c.2638C>A, NM_001387904.1:c.2638C>G, NM_001387904.1:c.2638C>T, NM_001387918.1:c.2527C>A, NM_001387918.1:c.2527C>G, NM_001387918.1:c.2527C>T, NM_001387896.1:c.2638C>A, NM_001387896.1:c.2638C>G, NM_001387896.1:c.2638C>T, NM_001387909.1:c.2527C>A, NM_001387909.1:c.2527C>G, NM_001387909.1:c.2527C>T, NM_001387906.1:c.2545C>A, NM_001387906.1:c.2545C>G, NM_001387906.1:c.2545C>T, NM_001387892.1:c.2656C>A, NM_001387892.1:c.2656C>G, NM_001387892.1:c.2656C>T, NM_001387898.1:c.2638C>A, NM_001387898.1:c.2638C>G, NM_001387898.1:c.2638C>T, NM_001387900.1:c.2638C>A, NM_001387900.1:c.2638C>G, NM_001387900.1:c.2638C>T, NM_001387908.1:c.2527C>A, NM_001387908.1:c.2527C>G, NM_001387908.1:c.2527C>T, NM_001387910.1:c.2527C>A, NM_001387910.1:c.2527C>G, NM_001387910.1:c.2527C>T, NM_001387907.1:c.2545C>A, NM_001387907.1:c.2545C>G, NM_001387907.1:c.2545C>T, NM_001387905.1:c.2545C>A, NM_001387905.1:c.2545C>G, NM_001387905.1:c.2545C>T, NM_001387913.1:c.2527C>A, NM_001387913.1:c.2527C>G, NM_001387913.1:c.2527C>T, NM_001202521.1:c.*755C>A, NM_001202521.1:c.*755C>G, NM_001202521.1:c.*755C>T, NM_001202522.1:c.2200C>A, NM_001202522.1:c.2200C>G, NM_001202522.1:c.2200C>T, NT_113891.3:g.2378963C>A, NT_113891.3:g.2378963C>G, NT_113891.3:g.2378963C>T, NT_113891.2:g.2379069C>A, NT_113891.2:g.2379069C>G, NT_113891.2:g.2379069C>T, NT_167248.2:g.2154362C>A, NT_167248.2:g.2154362C>G, NT_167248.2:g.2154362C>T, NT_167248.1:g.2159958C>A, NT_167248.1:g.2159958C>G, NT_167248.1:g.2159958C>T, NT_167246.2:g.2209430C>A, NT_167246.2:g.2209430C>G, NT_167246.2:g.2209430C>T, NT_167246.1:g.2215050C>A, NT_167246.1:g.2215050C>G, NT_167246.1:g.2215050C>T, NT_167245.2:g.2155502C>A, NT_167245.2:g.2155502C>G, NT_167245.2:g.2155502C>T, NT_167245.1:g.2161087C>A, NT_167245.1:g.2161087C>G, NT_167245.1:g.2161087C>T, XM_011514887.3:c.2656C>A, XM_011514887.3:c.2656C>G, XM_011514887.3:c.2656C>T, XM_011514887.2:c.2656C>A, XM_011514887.2:c.2656C>G, XM_011514887.2:c.2656C>T, XM_011514887.1:c.2656C>A, XM_011514887.1:c.2656C>G, XM_011514887.1:c.2656C>T, XM_017011268.3:c.2656C>A, XM_017011268.3:c.2656C>G, XM_017011268.3:c.2656C>T, XM_017011268.2:c.2656C>A, XM_017011268.2:c.2656C>G, XM_017011268.2:c.2656C>T, XM_017011268.1:c.2656C>A, XM_017011268.1:c.2656C>G, XM_017011268.1:c.2656C>T, XM_024446541.2:c.2656C>A, XM_024446541.2:c.2656C>G, XM_024446541.2:c.2656C>T, XM_024446541.1:c.2656C>A, XM_024446541.1:c.2656C>G, XM_024446541.1:c.2656C>T, XM_024446540.2:c.2656C>A, XM_024446540.2:c.2656C>G, XM_024446540.2:c.2656C>T, XM_024446540.1:c.2656C>A, XM_024446540.1:c.2656C>G, XM_024446540.1:c.2656C>T, XM_047419318.1:c.2710C>A, XM_047419318.1:c.2710C>G, XM_047419318.1:c.2710C>T, XM_047419321.1:c.2710C>A, XM_047419321.1:c.2710C>G, XM_047419321.1:c.2710C>T, XM_047419324.1:c.2710C>A, XM_047419324.1:c.2710C>G, XM_047419324.1:c.2710C>T, XM_047419320.1:c.2710C>A, XM_047419320.1:c.2710C>G, XM_047419320.1:c.2710C>T, XM_047419333.1:c.2581C>A, XM_047419333.1:c.2581C>G, XM_047419333.1:c.2581C>T, XM_047419334.1:c.2581C>A, XM_047419334.1:c.2581C>G, XM_047419334.1:c.2581C>T, NM_001410869.1:c.2581C>A, NM_001410869.1:c.2581C>G, NM_001410869.1:c.2581C>T, XM_047419326.1:c.2692C>A, XM_047419326.1:c.2692C>G, XM_047419326.1:c.2692C>T, XM_047419329.1:c.2656C>A, XM_047419329.1:c.2656C>G, XM_047419329.1:c.2656C>T, XM_047419331.1:c.2599C>A, XM_047419331.1:c.2599C>G, XM_047419331.1:c.2599C>T, XM_047419332.1:c.2581C>A, XM_047419332.1:c.2581C>G, XM_047419332.1:c.2581C>T, XM_047419322.1:c.2710C>A, XM_047419322.1:c.2710C>G, XM_047419322.1:c.2710C>T, XM_011514884.2:c.2656C>A, XM_011514884.2:c.2656C>G, XM_011514884.2:c.2656C>T, XM_011514884.1:c.2656C>A, XM_011514884.1:c.2656C>G, XM_011514884.1:c.2656C>T, XM_047419328.1:c.2656C>A, XM_047419328.1:c.2656C>G, XM_047419328.1:c.2656C>T, XM_047419327.1:c.2656C>A, XM_047419327.1:c.2656C>G, XM_047419327.1:c.2656C>T, XM_047419330.1:c.2656C>A, XM_047419330.1:c.2656C>G, XM_047419330.1:c.2656C>T, XM_047419323.1:c.2710C>A, XM_047419323.1:c.2710C>G, XM_047419323.1:c.2710C>T, XM_047419325.1:c.2692C>A, XM_047419325.1:c.2692C>G, XM_047419325.1:c.2692C>T, XM_047419319.1:c.2710C>A, XM_047419319.1:c.2710C>G, XM_047419319.1:c.2710C>T, NP_001945.3:p.Leu843Ile, NP_001945.3:p.Leu843Val, NP_054699.2:p.Leu880Ile, NP_054699.2:p.Leu880Val, NP_054700.2:p.Leu886Ile, NP_054700.2:p.Leu886Val, NP_001189452.2:p.Leu843Ile, NP_001189452.2:p.Leu843Val, NP_001284583.1:p.Leu880Ile, NP_001284583.1:p.Leu880Val, NP_001284582.1:p.Leu843Ile, NP_001284582.1:p.Leu843Val, NP_001284581.1:p.Leu843Ile, NP_001284581.1:p.Leu843Val, NP_001374832.1:p.Leu880Ile, NP_001374832.1:p.Leu880Val, NP_001374830.1:p.Leu880Ile, NP_001374830.1:p.Leu880Val, NP_001374828.1:p.Leu880Ile, NP_001374828.1:p.Leu880Val, NP_001374824.1:p.Leu880Ile, NP_001374824.1:p.Leu880Val, NP_001374826.1:p.Leu880Ile, NP_001374826.1:p.Leu880Val, NP_001374831.1:p.Leu880Ile, NP_001374831.1:p.Leu880Val, NP_001374823.1:p.Leu880Ile, NP_001374823.1:p.Leu880Val, NP_001374840.1:p.Leu843Ile, NP_001374840.1:p.Leu843Val, NP_001374844.1:p.Leu843Ile, NP_001374844.1:p.Leu843Val, NP_001374822.1:p.Leu880Ile, NP_001374822.1:p.Leu880Val, NP_001374846.1:p.Leu843Ile, NP_001374846.1:p.Leu843Val, NP_001374845.1:p.Leu843Ile, NP_001374845.1:p.Leu843Val, NP_001374843.1:p.Leu843Ile, NP_001374843.1:p.Leu843Val, NP_001374841.1:p.Leu843Ile, NP_001374841.1:p.Leu843Val, NP_001374833.1:p.Leu880Ile, NP_001374833.1:p.Leu880Val, NP_001374847.1:p.Leu843Ile, NP_001374847.1:p.Leu843Val, NP_001374825.1:p.Leu880Ile, NP_001374825.1:p.Leu880Val, NP_001374838.1:p.Leu843Ile, NP_001374838.1:p.Leu843Val, NP_001374835.1:p.Leu849Ile, NP_001374835.1:p.Leu849Val, NP_001374821.1:p.Leu886Ile, NP_001374821.1:p.Leu886Val, NP_001374827.1:p.Leu880Ile, NP_001374827.1:p.Leu880Val, NP_001374829.1:p.Leu880Ile, NP_001374829.1:p.Leu880Val, NP_001374837.1:p.Leu843Ile, NP_001374837.1:p.Leu843Val, NP_001374839.1:p.Leu843Ile, NP_001374839.1:p.Leu843Val, NP_001374836.1:p.Leu849Ile, NP_001374836.1:p.Leu849Val, NP_001374834.1:p.Leu849Ile, NP_001374834.1:p.Leu849Val, NP_001374842.1:p.Leu843Ile, NP_001374842.1:p.Leu843Val, NP_001189451.1:p.Leu734Ile, NP_001189451.1:p.Leu734Val, XP_011513189.1:p.Leu886Ile, XP_011513189.1:p.Leu886Val, XP_016866757.1:p.Leu886Ile, XP_016866757.1:p.Leu886Val, XP_024302309.1:p.Leu886Ile, XP_024302309.1:p.Leu886Val, XP_024302308.1:p.Leu886Ile, XP_024302308.1:p.Leu886Val, XP_047275274.1:p.Leu904Ile, XP_047275274.1:p.Leu904Val, XP_047275277.1:p.Leu904Ile, XP_047275277.1:p.Leu904Val, XP_047275280.1:p.Leu904Ile, XP_047275280.1:p.Leu904Val, XP_047275276.1:p.Leu904Ile, XP_047275276.1:p.Leu904Val, XP_047275289.1:p.Leu861Ile, XP_047275289.1:p.Leu861Val, XP_047275290.1:p.Leu861Ile, XP_047275290.1:p.Leu861Val, XP_047275282.1:p.Leu898Ile, XP_047275282.1:p.Leu898Val, XP_047275285.1:p.Leu886Ile, XP_047275285.1:p.Leu886Val, XP_047275287.1:p.Leu867Ile, XP_047275287.1:p.Leu867Val, XP_047275288.1:p.Leu861Ile, XP_047275288.1:p.Leu861Val, XP_047275278.1:p.Leu904Ile, XP_047275278.1:p.Leu904Val, XP_011513186.1:p.Leu886Ile, XP_011513186.1:p.Leu886Val, XP_047275284.1:p.Leu886Ile, XP_047275284.1:p.Leu886Val, XP_047275283.1:p.Leu886Ile, XP_047275283.1:p.Leu886Val, XP_047275286.1:p.Leu886Ile, XP_047275286.1:p.Leu886Val, XP_047275279.1:p.Leu904Ile, XP_047275279.1:p.Leu904Val, XP_047275281.1:p.Leu898Ile, XP_047275281.1:p.Leu898Val, XP_047275275.1:p.Leu904Ile, XP_047275275.1:p.Leu904Val

                                  17.

                                  rs1478469223 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:30899157 (GRCh38)
                                    6:30866934 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:30899156:T:C
                                    Gene:
                                    DDR1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000031/1 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000006.12:g.30899157T>C, NC_000006.11:g.30866934T>C, NG_029066.1:g.20074T>C, NM_001954.5:c.2492T>C, NM_001954.4:c.2492T>C, NM_013993.3:c.2603T>C, NM_013993.2:c.2603T>C, NM_013994.3:c.2621T>C, NM_013994.2:c.2621T>C, NM_001202523.3:c.2492T>C, NM_001202523.2:c.2546T>C, NM_001202523.1:c.2546T>C, NM_001297654.2:c.2603T>C, NM_001297654.1:c.2603T>C, NM_001297653.2:c.2492T>C, NM_001297653.1:c.2492T>C, NM_001297652.2:c.2492T>C, NM_001297652.1:c.2492T>C, NM_001387903.1:c.2603T>C, NM_001387901.1:c.2603T>C, NM_001387899.1:c.2603T>C, NM_001387895.1:c.2603T>C, NM_001387897.1:c.2603T>C, NM_001387902.1:c.2603T>C, NM_001387894.1:c.2603T>C, NM_001387911.1:c.2492T>C, NM_001387915.1:c.2492T>C, NM_001387893.1:c.2603T>C, NM_001387917.1:c.2492T>C, NM_001387916.1:c.2492T>C, NM_001387914.1:c.2492T>C, NM_001387912.1:c.2492T>C, NM_001387904.1:c.2603T>C, NM_001387918.1:c.2492T>C, NM_001387896.1:c.2603T>C, NM_001387909.1:c.2492T>C, NM_001387906.1:c.2510T>C, NM_001387892.1:c.2621T>C, NM_001387898.1:c.2603T>C, NM_001387900.1:c.2603T>C, NM_001387908.1:c.2492T>C, NM_001387910.1:c.2492T>C, NM_001387907.1:c.2510T>C, NM_001387905.1:c.2510T>C, NM_001387913.1:c.2492T>C, NM_001202521.1:c.*720T>C, NM_001202522.1:c.2165T>C, NT_113891.3:g.2378928T>C, NT_113891.2:g.2379034T>C, NT_167248.2:g.2154327T>C, NT_167248.1:g.2159923T>C, NT_167246.2:g.2209395T>C, NT_167246.1:g.2215015T>C, NT_167245.2:g.2155467T>C, NT_167245.1:g.2161052T>C, XM_011514887.3:c.2621T>C, XM_011514887.2:c.2621T>C, XM_011514887.1:c.2621T>C, XM_017011268.3:c.2621T>C, XM_017011268.2:c.2621T>C, XM_017011268.1:c.2621T>C, XM_024446541.2:c.2621T>C, XM_024446541.1:c.2621T>C, XM_024446540.2:c.2621T>C, XM_024446540.1:c.2621T>C, XM_047419318.1:c.2675T>C, XM_047419321.1:c.2675T>C, XM_047419324.1:c.2675T>C, XM_047419320.1:c.2675T>C, XM_047419333.1:c.2546T>C, XM_047419334.1:c.2546T>C, NM_001410869.1:c.2546T>C, XM_047419326.1:c.2657T>C, XM_047419329.1:c.2621T>C, XM_047419331.1:c.2564T>C, XM_047419332.1:c.2546T>C, XM_047419322.1:c.2675T>C, XM_011514884.2:c.2621T>C, XM_011514884.1:c.2621T>C, XM_047419328.1:c.2621T>C, XM_047419327.1:c.2621T>C, XM_047419330.1:c.2621T>C, XM_047419323.1:c.2675T>C, XM_047419325.1:c.2657T>C, XM_047419319.1:c.2675T>C, NP_001945.3:p.Val831Ala, NP_054699.2:p.Val868Ala, NP_054700.2:p.Val874Ala, NP_001189452.2:p.Val831Ala, NP_001284583.1:p.Val868Ala, NP_001284582.1:p.Val831Ala, NP_001284581.1:p.Val831Ala, NP_001374832.1:p.Val868Ala, NP_001374830.1:p.Val868Ala, NP_001374828.1:p.Val868Ala, NP_001374824.1:p.Val868Ala, NP_001374826.1:p.Val868Ala, NP_001374831.1:p.Val868Ala, NP_001374823.1:p.Val868Ala, NP_001374840.1:p.Val831Ala, NP_001374844.1:p.Val831Ala, NP_001374822.1:p.Val868Ala, NP_001374846.1:p.Val831Ala, NP_001374845.1:p.Val831Ala, NP_001374843.1:p.Val831Ala, NP_001374841.1:p.Val831Ala, NP_001374833.1:p.Val868Ala, NP_001374847.1:p.Val831Ala, NP_001374825.1:p.Val868Ala, NP_001374838.1:p.Val831Ala, NP_001374835.1:p.Val837Ala, NP_001374821.1:p.Val874Ala, NP_001374827.1:p.Val868Ala, NP_001374829.1:p.Val868Ala, NP_001374837.1:p.Val831Ala, NP_001374839.1:p.Val831Ala, NP_001374836.1:p.Val837Ala, NP_001374834.1:p.Val837Ala, NP_001374842.1:p.Val831Ala, NP_001189451.1:p.Val722Ala, XP_011513189.1:p.Val874Ala, XP_016866757.1:p.Val874Ala, XP_024302309.1:p.Val874Ala, XP_024302308.1:p.Val874Ala, XP_047275274.1:p.Val892Ala, XP_047275277.1:p.Val892Ala, XP_047275280.1:p.Val892Ala, XP_047275276.1:p.Val892Ala, XP_047275289.1:p.Val849Ala, XP_047275290.1:p.Val849Ala, XP_047275282.1:p.Val886Ala, XP_047275285.1:p.Val874Ala, XP_047275287.1:p.Val855Ala, XP_047275288.1:p.Val849Ala, XP_047275278.1:p.Val892Ala, XP_011513186.1:p.Val874Ala, XP_047275284.1:p.Val874Ala, XP_047275283.1:p.Val874Ala, XP_047275286.1:p.Val874Ala, XP_047275279.1:p.Val892Ala, XP_047275281.1:p.Val886Ala, XP_047275275.1:p.Val892Ala

                                    18.

                                    rs1478173567 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:30894527 (GRCh38)
                                      6:30862304 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:30894526:G:A
                                      Gene:
                                      DDR1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.30894527G>A, NC_000006.11:g.30862304G>A, NG_029066.1:g.15444G>A, NM_001954.5:c.1369G>A, NM_001954.4:c.1369G>A, NM_013993.3:c.1369G>A, NM_013993.2:c.1369G>A, NM_013994.3:c.1369G>A, NM_013994.2:c.1369G>A, NM_001202523.3:c.1369G>A, NM_001202523.2:c.1423G>A, NM_001202523.1:c.1423G>A, NM_001297654.2:c.1369G>A, NM_001297654.1:c.1369G>A, NM_001297653.2:c.1369G>A, NM_001297653.1:c.1369G>A, NM_001297652.2:c.1369G>A, NM_001297652.1:c.1369G>A, NM_001387903.1:c.1369G>A, NM_001387901.1:c.1369G>A, NM_001387899.1:c.1369G>A, NM_001387895.1:c.1369G>A, NM_001387897.1:c.1369G>A, NM_001387902.1:c.1369G>A, NM_001387894.1:c.1369G>A, NM_001387911.1:c.1369G>A, NM_001387915.1:c.1369G>A, NM_001387893.1:c.1369G>A, NM_001387917.1:c.1369G>A, NM_001387916.1:c.1369G>A, NM_001387914.1:c.1369G>A, NM_001387912.1:c.1369G>A, NM_001387904.1:c.1369G>A, NM_001387918.1:c.1369G>A, NM_001387896.1:c.1369G>A, NM_001387909.1:c.1369G>A, NM_001387906.1:c.1369G>A, NM_001387892.1:c.1369G>A, NM_001387898.1:c.1369G>A, NM_001387900.1:c.1369G>A, NM_001387908.1:c.1369G>A, NM_001387910.1:c.1369G>A, NM_001387907.1:c.1369G>A, NM_001387905.1:c.1369G>A, NM_001387913.1:c.1369G>A, NM_001202521.1:c.1369G>A, NT_113891.3:g.2374298G>A, NT_113891.2:g.2374404G>A, NT_167248.2:g.2149697G>A, NT_167248.1:g.2155293G>A, NT_167246.2:g.2204765G>A, NT_167246.1:g.2210385G>A, NT_167245.2:g.2150837G>A, NT_167245.1:g.2156422G>A, XM_011514887.3:c.1369G>A, XM_011514887.2:c.1369G>A, XM_011514887.1:c.1369G>A, XM_017011268.3:c.1369G>A, XM_017011268.2:c.1369G>A, XM_017011268.1:c.1369G>A, XM_024446541.2:c.1369G>A, XM_024446541.1:c.1369G>A, XM_024446540.2:c.1369G>A, XM_024446540.1:c.1369G>A, XM_047419318.1:c.1423G>A, XM_047419321.1:c.1423G>A, XM_047419324.1:c.1423G>A, XM_047419320.1:c.1423G>A, XM_047419333.1:c.1423G>A, XM_047419334.1:c.1423G>A, NM_001410869.1:c.1423G>A, XM_047419326.1:c.1423G>A, XM_047419329.1:c.1369G>A, XM_047419331.1:c.1423G>A, XM_047419332.1:c.1423G>A, XM_047419322.1:c.1423G>A, XM_011514884.2:c.1369G>A, XM_011514884.1:c.1369G>A, XM_047419328.1:c.1369G>A, XM_047419327.1:c.1369G>A, XM_047419330.1:c.1369G>A, XM_047419323.1:c.1423G>A, XM_047419325.1:c.1423G>A, XM_047419319.1:c.1423G>A, NP_001945.3:p.Glu457Lys, NP_054699.2:p.Glu457Lys, NP_054700.2:p.Glu457Lys, NP_001189452.2:p.Glu457Lys, NP_001284583.1:p.Glu457Lys, NP_001284582.1:p.Glu457Lys, NP_001284581.1:p.Glu457Lys, NP_001374832.1:p.Glu457Lys, NP_001374830.1:p.Glu457Lys, NP_001374828.1:p.Glu457Lys, NP_001374824.1:p.Glu457Lys, NP_001374826.1:p.Glu457Lys, NP_001374831.1:p.Glu457Lys, NP_001374823.1:p.Glu457Lys, NP_001374840.1:p.Glu457Lys, NP_001374844.1:p.Glu457Lys, NP_001374822.1:p.Glu457Lys, NP_001374846.1:p.Glu457Lys, NP_001374845.1:p.Glu457Lys, NP_001374843.1:p.Glu457Lys, NP_001374841.1:p.Glu457Lys, NP_001374833.1:p.Glu457Lys, NP_001374847.1:p.Glu457Lys, NP_001374825.1:p.Glu457Lys, NP_001374838.1:p.Glu457Lys, NP_001374835.1:p.Glu457Lys, NP_001374821.1:p.Glu457Lys, NP_001374827.1:p.Glu457Lys, NP_001374829.1:p.Glu457Lys, NP_001374837.1:p.Glu457Lys, NP_001374839.1:p.Glu457Lys, NP_001374836.1:p.Glu457Lys, NP_001374834.1:p.Glu457Lys, NP_001374842.1:p.Glu457Lys, NP_001189450.1:p.Glu457Lys, XP_011513189.1:p.Glu457Lys, XP_016866757.1:p.Glu457Lys, XP_024302309.1:p.Glu457Lys, XP_024302308.1:p.Glu457Lys, XP_047275274.1:p.Glu475Lys, XP_047275277.1:p.Glu475Lys, XP_047275280.1:p.Glu475Lys, XP_047275276.1:p.Glu475Lys, XP_047275289.1:p.Glu475Lys, XP_047275290.1:p.Glu475Lys, XP_047275282.1:p.Glu475Lys, XP_047275285.1:p.Glu457Lys, XP_047275287.1:p.Glu475Lys, XP_047275288.1:p.Glu475Lys, XP_047275278.1:p.Glu475Lys, XP_011513186.1:p.Glu457Lys, XP_047275284.1:p.Glu457Lys, XP_047275283.1:p.Glu457Lys, XP_047275286.1:p.Glu457Lys, XP_047275279.1:p.Glu475Lys, XP_047275281.1:p.Glu475Lys, XP_047275275.1:p.Glu475Lys

                                      19.

                                      rs1478145010 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C,T [Show Flanks]
                                        Chromosome:
                                        6:30892440 (GRCh38)
                                        6:30860217 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:30892439:G:A,NC_000006.12:30892439:G:C,NC_000006.12:30892439:G:T
                                        Gene:
                                        DDR1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000006.12:g.30892440G>A, NC_000006.12:g.30892440G>C, NC_000006.12:g.30892440G>T, NC_000006.11:g.30860217G>A, NC_000006.11:g.30860217G>C, NC_000006.11:g.30860217G>T, NG_029066.1:g.13357G>A, NG_029066.1:g.13357G>C, NG_029066.1:g.13357G>T, NM_001954.5:c.997G>A, NM_001954.5:c.997G>C, NM_001954.5:c.997G>T, NM_001954.4:c.997G>A, NM_001954.4:c.997G>C, NM_001954.4:c.997G>T, NM_013993.3:c.997G>A, NM_013993.3:c.997G>C, NM_013993.3:c.997G>T, NM_013993.2:c.997G>A, NM_013993.2:c.997G>C, NM_013993.2:c.997G>T, NM_013994.3:c.997G>A, NM_013994.3:c.997G>C, NM_013994.3:c.997G>T, NM_013994.2:c.997G>A, NM_013994.2:c.997G>C, NM_013994.2:c.997G>T, NM_001202523.3:c.997G>A, NM_001202523.3:c.997G>C, NM_001202523.3:c.997G>T, NM_001202523.2:c.1051G>A, NM_001202523.2:c.1051G>C, NM_001202523.2:c.1051G>T, NM_001202523.1:c.1051G>A, NM_001202523.1:c.1051G>C, NM_001202523.1:c.1051G>T, NM_001297654.2:c.997G>A, NM_001297654.2:c.997G>C, NM_001297654.2:c.997G>T, NM_001297654.1:c.997G>A, NM_001297654.1:c.997G>C, NM_001297654.1:c.997G>T, NM_001297653.2:c.997G>A, NM_001297653.2:c.997G>C, NM_001297653.2:c.997G>T, NM_001297653.1:c.997G>A, NM_001297653.1:c.997G>C, NM_001297653.1:c.997G>T, NM_001297652.2:c.997G>A, NM_001297652.2:c.997G>C, NM_001297652.2:c.997G>T, NM_001297652.1:c.997G>A, NM_001297652.1:c.997G>C, NM_001297652.1:c.997G>T, NM_001387903.1:c.997G>A, NM_001387903.1:c.997G>C, NM_001387903.1:c.997G>T, NM_001387901.1:c.997G>A, NM_001387901.1:c.997G>C, NM_001387901.1:c.997G>T, NM_001387899.1:c.997G>A, NM_001387899.1:c.997G>C, NM_001387899.1:c.997G>T, NM_001387895.1:c.997G>A, NM_001387895.1:c.997G>C, NM_001387895.1:c.997G>T, NM_001387897.1:c.997G>A, NM_001387897.1:c.997G>C, NM_001387897.1:c.997G>T, NM_001387902.1:c.997G>A, NM_001387902.1:c.997G>C, NM_001387902.1:c.997G>T, NM_001387894.1:c.997G>A, NM_001387894.1:c.997G>C, NM_001387894.1:c.997G>T, NM_001387911.1:c.997G>A, NM_001387911.1:c.997G>C, NM_001387911.1:c.997G>T, NM_001387915.1:c.997G>A, NM_001387915.1:c.997G>C, NM_001387915.1:c.997G>T, NM_001387893.1:c.997G>A, NM_001387893.1:c.997G>C, NM_001387893.1:c.997G>T, NM_001387917.1:c.997G>A, NM_001387917.1:c.997G>C, NM_001387917.1:c.997G>T, NM_001387916.1:c.997G>A, NM_001387916.1:c.997G>C, NM_001387916.1:c.997G>T, NM_001387914.1:c.997G>A, NM_001387914.1:c.997G>C, NM_001387914.1:c.997G>T, NM_001387912.1:c.997G>A, NM_001387912.1:c.997G>C, NM_001387912.1:c.997G>T, NM_001387904.1:c.997G>A, NM_001387904.1:c.997G>C, NM_001387904.1:c.997G>T, NM_001387918.1:c.997G>A, NM_001387918.1:c.997G>C, NM_001387918.1:c.997G>T, NM_001387896.1:c.997G>A, NM_001387896.1:c.997G>C, NM_001387896.1:c.997G>T, NM_001387909.1:c.997G>A, NM_001387909.1:c.997G>C, NM_001387909.1:c.997G>T, NM_001387906.1:c.997G>A, NM_001387906.1:c.997G>C, NM_001387906.1:c.997G>T, NM_001387892.1:c.997G>A, NM_001387892.1:c.997G>C, NM_001387892.1:c.997G>T, NM_001387898.1:c.997G>A, NM_001387898.1:c.997G>C, NM_001387898.1:c.997G>T, NM_001387900.1:c.997G>A, NM_001387900.1:c.997G>C, NM_001387900.1:c.997G>T, NM_001387908.1:c.997G>A, NM_001387908.1:c.997G>C, NM_001387908.1:c.997G>T, NM_001387910.1:c.997G>A, NM_001387910.1:c.997G>C, NM_001387910.1:c.997G>T, NM_001387907.1:c.997G>A, NM_001387907.1:c.997G>C, NM_001387907.1:c.997G>T, NM_001387905.1:c.997G>A, NM_001387905.1:c.997G>C, NM_001387905.1:c.997G>T, NM_001387913.1:c.997G>A, NM_001387913.1:c.997G>C, NM_001387913.1:c.997G>T, NM_001202521.1:c.997G>A, NM_001202521.1:c.997G>C, NM_001202521.1:c.997G>T, NM_001202522.1:c.997G>A, NM_001202522.1:c.997G>C, NM_001202522.1:c.997G>T, NT_113891.3:g.2372211G>A, NT_113891.3:g.2372211G>C, NT_113891.3:g.2372211G>T, NT_113891.2:g.2372317G>A, NT_113891.2:g.2372317G>C, NT_113891.2:g.2372317G>T, NT_167248.2:g.2147610G>A, NT_167248.2:g.2147610G>C, NT_167248.2:g.2147610G>T, NT_167248.1:g.2153206G>A, NT_167248.1:g.2153206G>C, NT_167248.1:g.2153206G>T, NT_167246.2:g.2202678G>A, NT_167246.2:g.2202678G>C, NT_167246.2:g.2202678G>T, NT_167246.1:g.2208298G>A, NT_167246.1:g.2208298G>C, NT_167246.1:g.2208298G>T, NT_167245.2:g.2148750G>A, NT_167245.2:g.2148750G>C, NT_167245.2:g.2148750G>T, NT_167245.1:g.2154335G>A, NT_167245.1:g.2154335G>C, NT_167245.1:g.2154335G>T, XM_011514887.3:c.997G>A, XM_011514887.3:c.997G>C, XM_011514887.3:c.997G>T, XM_011514887.2:c.997G>A, XM_011514887.2:c.997G>C, XM_011514887.2:c.997G>T, XM_011514887.1:c.997G>A, XM_011514887.1:c.997G>C, XM_011514887.1:c.997G>T, XM_017011268.3:c.997G>A, XM_017011268.3:c.997G>C, XM_017011268.3:c.997G>T, XM_017011268.2:c.997G>A, XM_017011268.2:c.997G>C, XM_017011268.2:c.997G>T, XM_017011268.1:c.997G>A, XM_017011268.1:c.997G>C, XM_017011268.1:c.997G>T, XM_024446541.2:c.997G>A, XM_024446541.2:c.997G>C, XM_024446541.2:c.997G>T, XM_024446541.1:c.997G>A, XM_024446541.1:c.997G>C, XM_024446541.1:c.997G>T, XM_024446540.2:c.997G>A, XM_024446540.2:c.997G>C, XM_024446540.2:c.997G>T, XM_024446540.1:c.997G>A, XM_024446540.1:c.997G>C, XM_024446540.1:c.997G>T, XM_047419318.1:c.1051G>A, XM_047419318.1:c.1051G>C, XM_047419318.1:c.1051G>T, XM_047419321.1:c.1051G>A, XM_047419321.1:c.1051G>C, XM_047419321.1:c.1051G>T, XM_047419324.1:c.1051G>A, XM_047419324.1:c.1051G>C, XM_047419324.1:c.1051G>T, XM_047419320.1:c.1051G>A, XM_047419320.1:c.1051G>C, XM_047419320.1:c.1051G>T, XM_047419333.1:c.1051G>A, XM_047419333.1:c.1051G>C, XM_047419333.1:c.1051G>T, XM_047419334.1:c.1051G>A, XM_047419334.1:c.1051G>C, XM_047419334.1:c.1051G>T, NM_001410869.1:c.1051G>A, NM_001410869.1:c.1051G>C, NM_001410869.1:c.1051G>T, XM_047419326.1:c.1051G>A, XM_047419326.1:c.1051G>C, XM_047419326.1:c.1051G>T, XM_047419329.1:c.997G>A, XM_047419329.1:c.997G>C, XM_047419329.1:c.997G>T, XM_047419331.1:c.1051G>A, XM_047419331.1:c.1051G>C, XM_047419331.1:c.1051G>T, XM_047419332.1:c.1051G>A, XM_047419332.1:c.1051G>C, XM_047419332.1:c.1051G>T, XM_047419322.1:c.1051G>A, XM_047419322.1:c.1051G>C, XM_047419322.1:c.1051G>T, XM_011514884.2:c.997G>A, XM_011514884.2:c.997G>C, XM_011514884.2:c.997G>T, XM_011514884.1:c.997G>A, XM_011514884.1:c.997G>C, XM_011514884.1:c.997G>T, XM_047419328.1:c.997G>A, XM_047419328.1:c.997G>C, XM_047419328.1:c.997G>T, XM_047419327.1:c.997G>A, XM_047419327.1:c.997G>C, XM_047419327.1:c.997G>T, XM_047419330.1:c.997G>A, XM_047419330.1:c.997G>C, XM_047419330.1:c.997G>T, XM_047419323.1:c.1051G>A, XM_047419323.1:c.1051G>C, XM_047419323.1:c.1051G>T, XM_047419325.1:c.1051G>A, XM_047419325.1:c.1051G>C, XM_047419325.1:c.1051G>T, XM_047419319.1:c.1051G>A, XM_047419319.1:c.1051G>C, XM_047419319.1:c.1051G>T, NP_001945.3:p.Ala333Thr, NP_001945.3:p.Ala333Pro, NP_001945.3:p.Ala333Ser, NP_054699.2:p.Ala333Thr, NP_054699.2:p.Ala333Pro, NP_054699.2:p.Ala333Ser, NP_054700.2:p.Ala333Thr, NP_054700.2:p.Ala333Pro, NP_054700.2:p.Ala333Ser, NP_001189452.2:p.Ala333Thr, NP_001189452.2:p.Ala333Pro, NP_001189452.2:p.Ala333Ser, NP_001284583.1:p.Ala333Thr, NP_001284583.1:p.Ala333Pro, NP_001284583.1:p.Ala333Ser, NP_001284582.1:p.Ala333Thr, NP_001284582.1:p.Ala333Pro, NP_001284582.1:p.Ala333Ser, NP_001284581.1:p.Ala333Thr, NP_001284581.1:p.Ala333Pro, NP_001284581.1:p.Ala333Ser, NP_001374832.1:p.Ala333Thr, NP_001374832.1:p.Ala333Pro, NP_001374832.1:p.Ala333Ser, NP_001374830.1:p.Ala333Thr, NP_001374830.1:p.Ala333Pro, NP_001374830.1:p.Ala333Ser, NP_001374828.1:p.Ala333Thr, NP_001374828.1:p.Ala333Pro, NP_001374828.1:p.Ala333Ser, NP_001374824.1:p.Ala333Thr, NP_001374824.1:p.Ala333Pro, NP_001374824.1:p.Ala333Ser, NP_001374826.1:p.Ala333Thr, NP_001374826.1:p.Ala333Pro, NP_001374826.1:p.Ala333Ser, NP_001374831.1:p.Ala333Thr, NP_001374831.1:p.Ala333Pro, NP_001374831.1:p.Ala333Ser, NP_001374823.1:p.Ala333Thr, NP_001374823.1:p.Ala333Pro, NP_001374823.1:p.Ala333Ser, NP_001374840.1:p.Ala333Thr, NP_001374840.1:p.Ala333Pro, NP_001374840.1:p.Ala333Ser, NP_001374844.1:p.Ala333Thr, NP_001374844.1:p.Ala333Pro, NP_001374844.1:p.Ala333Ser, NP_001374822.1:p.Ala333Thr, NP_001374822.1:p.Ala333Pro, NP_001374822.1:p.Ala333Ser, NP_001374846.1:p.Ala333Thr, NP_001374846.1:p.Ala333Pro, NP_001374846.1:p.Ala333Ser, NP_001374845.1:p.Ala333Thr, NP_001374845.1:p.Ala333Pro, NP_001374845.1:p.Ala333Ser, NP_001374843.1:p.Ala333Thr, NP_001374843.1:p.Ala333Pro, NP_001374843.1:p.Ala333Ser, NP_001374841.1:p.Ala333Thr, NP_001374841.1:p.Ala333Pro, NP_001374841.1:p.Ala333Ser, NP_001374833.1:p.Ala333Thr, NP_001374833.1:p.Ala333Pro, NP_001374833.1:p.Ala333Ser, NP_001374847.1:p.Ala333Thr, NP_001374847.1:p.Ala333Pro, NP_001374847.1:p.Ala333Ser, NP_001374825.1:p.Ala333Thr, NP_001374825.1:p.Ala333Pro, NP_001374825.1:p.Ala333Ser, NP_001374838.1:p.Ala333Thr, NP_001374838.1:p.Ala333Pro, NP_001374838.1:p.Ala333Ser, NP_001374835.1:p.Ala333Thr, NP_001374835.1:p.Ala333Pro, NP_001374835.1:p.Ala333Ser, NP_001374821.1:p.Ala333Thr, NP_001374821.1:p.Ala333Pro, NP_001374821.1:p.Ala333Ser, NP_001374827.1:p.Ala333Thr, NP_001374827.1:p.Ala333Pro, NP_001374827.1:p.Ala333Ser, NP_001374829.1:p.Ala333Thr, NP_001374829.1:p.Ala333Pro, NP_001374829.1:p.Ala333Ser, NP_001374837.1:p.Ala333Thr, NP_001374837.1:p.Ala333Pro, NP_001374837.1:p.Ala333Ser, NP_001374839.1:p.Ala333Thr, NP_001374839.1:p.Ala333Pro, NP_001374839.1:p.Ala333Ser, NP_001374836.1:p.Ala333Thr, NP_001374836.1:p.Ala333Pro, NP_001374836.1:p.Ala333Ser, NP_001374834.1:p.Ala333Thr, NP_001374834.1:p.Ala333Pro, NP_001374834.1:p.Ala333Ser, NP_001374842.1:p.Ala333Thr, NP_001374842.1:p.Ala333Pro, NP_001374842.1:p.Ala333Ser, NP_001189450.1:p.Ala333Thr, NP_001189450.1:p.Ala333Pro, NP_001189450.1:p.Ala333Ser, NP_001189451.1:p.Ala333Thr, NP_001189451.1:p.Ala333Pro, NP_001189451.1:p.Ala333Ser, XP_011513189.1:p.Ala333Thr, XP_011513189.1:p.Ala333Pro, XP_011513189.1:p.Ala333Ser, XP_016866757.1:p.Ala333Thr, XP_016866757.1:p.Ala333Pro, XP_016866757.1:p.Ala333Ser, XP_024302309.1:p.Ala333Thr, XP_024302309.1:p.Ala333Pro, XP_024302309.1:p.Ala333Ser, XP_024302308.1:p.Ala333Thr, XP_024302308.1:p.Ala333Pro, XP_024302308.1:p.Ala333Ser, XP_047275274.1:p.Ala351Thr, XP_047275274.1:p.Ala351Pro, XP_047275274.1:p.Ala351Ser, XP_047275277.1:p.Ala351Thr, XP_047275277.1:p.Ala351Pro, XP_047275277.1:p.Ala351Ser, XP_047275280.1:p.Ala351Thr, XP_047275280.1:p.Ala351Pro, XP_047275280.1:p.Ala351Ser, XP_047275276.1:p.Ala351Thr, XP_047275276.1:p.Ala351Pro, XP_047275276.1:p.Ala351Ser, XP_047275289.1:p.Ala351Thr, XP_047275289.1:p.Ala351Pro, XP_047275289.1:p.Ala351Ser, XP_047275290.1:p.Ala351Thr, XP_047275290.1:p.Ala351Pro, XP_047275290.1:p.Ala351Ser, XP_047275282.1:p.Ala351Thr, XP_047275282.1:p.Ala351Pro, XP_047275282.1:p.Ala351Ser, XP_047275285.1:p.Ala333Thr, XP_047275285.1:p.Ala333Pro, XP_047275285.1:p.Ala333Ser, XP_047275287.1:p.Ala351Thr, XP_047275287.1:p.Ala351Pro, XP_047275287.1:p.Ala351Ser, XP_047275288.1:p.Ala351Thr, XP_047275288.1:p.Ala351Pro, XP_047275288.1:p.Ala351Ser, XP_047275278.1:p.Ala351Thr, XP_047275278.1:p.Ala351Pro, XP_047275278.1:p.Ala351Ser, XP_011513186.1:p.Ala333Thr, XP_011513186.1:p.Ala333Pro, XP_011513186.1:p.Ala333Ser, XP_047275284.1:p.Ala333Thr, XP_047275284.1:p.Ala333Pro, XP_047275284.1:p.Ala333Ser, XP_047275283.1:p.Ala333Thr, XP_047275283.1:p.Ala333Pro, XP_047275283.1:p.Ala333Ser, XP_047275286.1:p.Ala333Thr, XP_047275286.1:p.Ala333Pro, XP_047275286.1:p.Ala333Ser, XP_047275279.1:p.Ala351Thr, XP_047275279.1:p.Ala351Pro, XP_047275279.1:p.Ala351Ser, XP_047275281.1:p.Ala351Thr, XP_047275281.1:p.Ala351Pro, XP_047275281.1:p.Ala351Ser, XP_047275275.1:p.Ala351Thr, XP_047275275.1:p.Ala351Pro, XP_047275275.1:p.Ala351Ser

                                        20.

                                        rs1477583730 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C,T [Show Flanks]
                                          Chromosome:
                                          6:30888917 (GRCh38)
                                          6:30856694 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:30888916:G:A,NC_000006.12:30888916:G:C,NC_000006.12:30888916:G:T
                                          Gene:
                                          DDR1 (Varview), MIR4640 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000006.12:g.30888917G>A, NC_000006.12:g.30888917G>C, NC_000006.12:g.30888917G>T, NC_000006.11:g.30856694G>A, NC_000006.11:g.30856694G>C, NC_000006.11:g.30856694G>T, NG_029066.1:g.9834G>A, NG_029066.1:g.9834G>C, NG_029066.1:g.9834G>T, NM_001954.5:c.95G>A, NM_001954.5:c.95G>C, NM_001954.5:c.95G>T, NM_001954.4:c.95G>A, NM_001954.4:c.95G>C, NM_001954.4:c.95G>T, NM_013993.3:c.95G>A, NM_013993.3:c.95G>C, NM_013993.3:c.95G>T, NM_013993.2:c.95G>A, NM_013993.2:c.95G>C, NM_013993.2:c.95G>T, NM_013994.3:c.95G>A, NM_013994.3:c.95G>C, NM_013994.3:c.95G>T, NM_013994.2:c.95G>A, NM_013994.2:c.95G>C, NM_013994.2:c.95G>T, NM_001202523.3:c.95G>A, NM_001202523.3:c.95G>C, NM_001202523.3:c.95G>T, NM_001202523.2:c.149G>A, NM_001202523.2:c.149G>C, NM_001202523.2:c.149G>T, NM_001202523.1:c.149G>A, NM_001202523.1:c.149G>C, NM_001202523.1:c.149G>T, NM_001297654.2:c.95G>A, NM_001297654.2:c.95G>C, NM_001297654.2:c.95G>T, NM_001297654.1:c.95G>A, NM_001297654.1:c.95G>C, NM_001297654.1:c.95G>T, NM_001297653.2:c.95G>A, NM_001297653.2:c.95G>C, NM_001297653.2:c.95G>T, NM_001297653.1:c.95G>A, NM_001297653.1:c.95G>C, NM_001297653.1:c.95G>T, NM_001297652.2:c.95G>A, NM_001297652.2:c.95G>C, NM_001297652.2:c.95G>T, NM_001297652.1:c.95G>A, NM_001297652.1:c.95G>C, NM_001297652.1:c.95G>T, NM_001387903.1:c.95G>A, NM_001387903.1:c.95G>C, NM_001387903.1:c.95G>T, NM_001387901.1:c.95G>A, NM_001387901.1:c.95G>C, NM_001387901.1:c.95G>T, NM_001387899.1:c.95G>A, NM_001387899.1:c.95G>C, NM_001387899.1:c.95G>T, NM_001387895.1:c.95G>A, NM_001387895.1:c.95G>C, NM_001387895.1:c.95G>T, NM_001387897.1:c.95G>A, NM_001387897.1:c.95G>C, NM_001387897.1:c.95G>T, NM_001387902.1:c.95G>A, NM_001387902.1:c.95G>C, NM_001387902.1:c.95G>T, NM_001387894.1:c.95G>A, NM_001387894.1:c.95G>C, NM_001387894.1:c.95G>T, NM_001387911.1:c.95G>A, NM_001387911.1:c.95G>C, NM_001387911.1:c.95G>T, NM_001387915.1:c.95G>A, NM_001387915.1:c.95G>C, NM_001387915.1:c.95G>T, NM_001387893.1:c.95G>A, NM_001387893.1:c.95G>C, NM_001387893.1:c.95G>T, NM_001387917.1:c.95G>A, NM_001387917.1:c.95G>C, NM_001387917.1:c.95G>T, NM_001387916.1:c.95G>A, NM_001387916.1:c.95G>C, NM_001387916.1:c.95G>T, NM_001387914.1:c.95G>A, NM_001387914.1:c.95G>C, NM_001387914.1:c.95G>T, NM_001387912.1:c.95G>A, NM_001387912.1:c.95G>C, NM_001387912.1:c.95G>T, NM_001387904.1:c.95G>A, NM_001387904.1:c.95G>C, NM_001387904.1:c.95G>T, NM_001387918.1:c.95G>A, NM_001387918.1:c.95G>C, NM_001387918.1:c.95G>T, NM_001387896.1:c.95G>A, NM_001387896.1:c.95G>C, NM_001387896.1:c.95G>T, NM_001387909.1:c.95G>A, NM_001387909.1:c.95G>C, NM_001387909.1:c.95G>T, NM_001387906.1:c.95G>A, NM_001387906.1:c.95G>C, NM_001387906.1:c.95G>T, NM_001387892.1:c.95G>A, NM_001387892.1:c.95G>C, NM_001387892.1:c.95G>T, NM_001387898.1:c.95G>A, NM_001387898.1:c.95G>C, NM_001387898.1:c.95G>T, NM_001387900.1:c.95G>A, NM_001387900.1:c.95G>C, NM_001387900.1:c.95G>T, NM_001387908.1:c.95G>A, NM_001387908.1:c.95G>C, NM_001387908.1:c.95G>T, NM_001387910.1:c.95G>A, NM_001387910.1:c.95G>C, NM_001387910.1:c.95G>T, NM_001387907.1:c.95G>A, NM_001387907.1:c.95G>C, NM_001387907.1:c.95G>T, NM_001387905.1:c.95G>A, NM_001387905.1:c.95G>C, NM_001387905.1:c.95G>T, NM_001387913.1:c.95G>A, NM_001387913.1:c.95G>C, NM_001387913.1:c.95G>T, NM_001202521.1:c.95G>A, NM_001202521.1:c.95G>C, NM_001202521.1:c.95G>T, NM_001202522.1:c.95G>A, NM_001202522.1:c.95G>C, NM_001202522.1:c.95G>T, NT_113891.3:g.2368686G>A, NT_113891.3:g.2368686G>C, NT_113891.3:g.2368686G>T, NT_113891.2:g.2368792G>A, NT_113891.2:g.2368792G>C, NT_113891.2:g.2368792G>T, NT_167248.2:g.2144085G>A, NT_167248.2:g.2144085G>C, NT_167248.2:g.2144085G>T, NT_167248.1:g.2149681G>A, NT_167248.1:g.2149681G>C, NT_167248.1:g.2149681G>T, NT_167246.2:g.2199159G>A, NT_167246.2:g.2199159G>C, NT_167246.2:g.2199159G>T, NT_167246.1:g.2204779G>A, NT_167246.1:g.2204779G>C, NT_167246.1:g.2204779G>T, NT_167245.2:g.2145211G>A, NT_167245.2:g.2145211G>C, NT_167245.2:g.2145211G>T, NT_167245.1:g.2150796G>A, NT_167245.1:g.2150796G>C, NT_167245.1:g.2150796G>T, NT_167247.2:g.2233066G>A, NT_167247.2:g.2233066G>C, NT_167247.2:g.2233066G>T, NT_167247.1:g.2238651G>A, NT_167247.1:g.2238651G>C, NT_167247.1:g.2238651G>T, NT_167244.2:g.2218420G>A, NT_167244.2:g.2218420G>C, NT_167244.2:g.2218420G>T, NT_167244.1:g.2168336G>A, NT_167244.1:g.2168336G>C, NT_167244.1:g.2168336G>T, XM_011514887.3:c.95G>A, XM_011514887.3:c.95G>C, XM_011514887.3:c.95G>T, XM_011514887.2:c.95G>A, XM_011514887.2:c.95G>C, XM_011514887.2:c.95G>T, XM_011514887.1:c.95G>A, XM_011514887.1:c.95G>C, XM_011514887.1:c.95G>T, XM_017011268.3:c.95G>A, XM_017011268.3:c.95G>C, XM_017011268.3:c.95G>T, XM_017011268.2:c.95G>A, XM_017011268.2:c.95G>C, XM_017011268.2:c.95G>T, XM_017011268.1:c.95G>A, XM_017011268.1:c.95G>C, XM_017011268.1:c.95G>T, XM_011514884.2:c.95G>A, XM_011514884.2:c.95G>C, XM_011514884.2:c.95G>T, XM_011514884.1:c.95G>A, XM_011514884.1:c.95G>C, XM_011514884.1:c.95G>T, XM_024446541.2:c.95G>A, XM_024446541.2:c.95G>C, XM_024446541.2:c.95G>T, XM_024446541.1:c.95G>A, XM_024446541.1:c.95G>C, XM_024446541.1:c.95G>T, XM_024446540.2:c.95G>A, XM_024446540.2:c.95G>C, XM_024446540.2:c.95G>T, XM_024446540.1:c.95G>A, XM_024446540.1:c.95G>C, XM_024446540.1:c.95G>T, XM_047419328.1:c.95G>A, XM_047419328.1:c.95G>C, XM_047419328.1:c.95G>T, XM_047419323.1:c.149G>A, XM_047419323.1:c.149G>C, XM_047419323.1:c.149G>T, XM_047419319.1:c.149G>A, XM_047419319.1:c.149G>C, XM_047419319.1:c.149G>T, XM_047419325.1:c.149G>A, XM_047419325.1:c.149G>C, XM_047419325.1:c.149G>T, XM_047419329.1:c.95G>A, XM_047419329.1:c.95G>C, XM_047419329.1:c.95G>T, XM_047419331.1:c.149G>A, XM_047419331.1:c.149G>C, XM_047419331.1:c.149G>T, XM_047419332.1:c.149G>A, XM_047419332.1:c.149G>C, XM_047419332.1:c.149G>T, XM_047419327.1:c.95G>A, XM_047419327.1:c.95G>C, XM_047419327.1:c.95G>T, XM_047419333.1:c.149G>A, XM_047419333.1:c.149G>C, XM_047419333.1:c.149G>T, NM_001410869.1:c.149G>A, NM_001410869.1:c.149G>C, NM_001410869.1:c.149G>T, XM_047419321.1:c.149G>A, XM_047419321.1:c.149G>C, XM_047419321.1:c.149G>T, XM_047419324.1:c.149G>A, XM_047419324.1:c.149G>C, XM_047419324.1:c.149G>T, XM_047419320.1:c.149G>A, XM_047419320.1:c.149G>C, XM_047419320.1:c.149G>T, XM_047419322.1:c.149G>A, XM_047419322.1:c.149G>C, XM_047419322.1:c.149G>T, XM_047419326.1:c.149G>A, XM_047419326.1:c.149G>C, XM_047419326.1:c.149G>T, XM_047419330.1:c.95G>A, XM_047419330.1:c.95G>C, XM_047419330.1:c.95G>T, XM_047419318.1:c.149G>A, XM_047419318.1:c.149G>C, XM_047419318.1:c.149G>T, XM_047419334.1:c.149G>A, XM_047419334.1:c.149G>C, XM_047419334.1:c.149G>T, NP_001945.3:p.Arg32His, NP_001945.3:p.Arg32Pro, NP_001945.3:p.Arg32Leu, NP_054699.2:p.Arg32His, NP_054699.2:p.Arg32Pro, NP_054699.2:p.Arg32Leu, NP_054700.2:p.Arg32His, NP_054700.2:p.Arg32Pro, NP_054700.2:p.Arg32Leu, NP_001189452.2:p.Arg32His, NP_001189452.2:p.Arg32Pro, NP_001189452.2:p.Arg32Leu, NP_001284583.1:p.Arg32His, NP_001284583.1:p.Arg32Pro, NP_001284583.1:p.Arg32Leu, NP_001284582.1:p.Arg32His, NP_001284582.1:p.Arg32Pro, NP_001284582.1:p.Arg32Leu, NP_001284581.1:p.Arg32His, NP_001284581.1:p.Arg32Pro, NP_001284581.1:p.Arg32Leu, NP_001374832.1:p.Arg32His, NP_001374832.1:p.Arg32Pro, NP_001374832.1:p.Arg32Leu, NP_001374830.1:p.Arg32His, NP_001374830.1:p.Arg32Pro, NP_001374830.1:p.Arg32Leu, NP_001374828.1:p.Arg32His, NP_001374828.1:p.Arg32Pro, NP_001374828.1:p.Arg32Leu, NP_001374824.1:p.Arg32His, NP_001374824.1:p.Arg32Pro, NP_001374824.1:p.Arg32Leu, NP_001374826.1:p.Arg32His, NP_001374826.1:p.Arg32Pro, NP_001374826.1:p.Arg32Leu, NP_001374831.1:p.Arg32His, NP_001374831.1:p.Arg32Pro, NP_001374831.1:p.Arg32Leu, NP_001374823.1:p.Arg32His, NP_001374823.1:p.Arg32Pro, NP_001374823.1:p.Arg32Leu, NP_001374840.1:p.Arg32His, NP_001374840.1:p.Arg32Pro, NP_001374840.1:p.Arg32Leu, NP_001374844.1:p.Arg32His, NP_001374844.1:p.Arg32Pro, NP_001374844.1:p.Arg32Leu, NP_001374822.1:p.Arg32His, NP_001374822.1:p.Arg32Pro, NP_001374822.1:p.Arg32Leu, NP_001374846.1:p.Arg32His, NP_001374846.1:p.Arg32Pro, NP_001374846.1:p.Arg32Leu, NP_001374845.1:p.Arg32His, NP_001374845.1:p.Arg32Pro, NP_001374845.1:p.Arg32Leu, NP_001374843.1:p.Arg32His, NP_001374843.1:p.Arg32Pro, NP_001374843.1:p.Arg32Leu, NP_001374841.1:p.Arg32His, NP_001374841.1:p.Arg32Pro, NP_001374841.1:p.Arg32Leu, NP_001374833.1:p.Arg32His, NP_001374833.1:p.Arg32Pro, NP_001374833.1:p.Arg32Leu, NP_001374847.1:p.Arg32His, NP_001374847.1:p.Arg32Pro, NP_001374847.1:p.Arg32Leu, NP_001374825.1:p.Arg32His, NP_001374825.1:p.Arg32Pro, NP_001374825.1:p.Arg32Leu, NP_001374838.1:p.Arg32His, NP_001374838.1:p.Arg32Pro, NP_001374838.1:p.Arg32Leu, NP_001374835.1:p.Arg32His, NP_001374835.1:p.Arg32Pro, NP_001374835.1:p.Arg32Leu, NP_001374821.1:p.Arg32His, NP_001374821.1:p.Arg32Pro, NP_001374821.1:p.Arg32Leu, NP_001374827.1:p.Arg32His, NP_001374827.1:p.Arg32Pro, NP_001374827.1:p.Arg32Leu, NP_001374829.1:p.Arg32His, NP_001374829.1:p.Arg32Pro, NP_001374829.1:p.Arg32Leu, NP_001374837.1:p.Arg32His, NP_001374837.1:p.Arg32Pro, NP_001374837.1:p.Arg32Leu, NP_001374839.1:p.Arg32His, NP_001374839.1:p.Arg32Pro, NP_001374839.1:p.Arg32Leu, NP_001374836.1:p.Arg32His, NP_001374836.1:p.Arg32Pro, NP_001374836.1:p.Arg32Leu, NP_001374834.1:p.Arg32His, NP_001374834.1:p.Arg32Pro, NP_001374834.1:p.Arg32Leu, NP_001374842.1:p.Arg32His, NP_001374842.1:p.Arg32Pro, NP_001374842.1:p.Arg32Leu, NP_001189450.1:p.Arg32His, NP_001189450.1:p.Arg32Pro, NP_001189450.1:p.Arg32Leu, NP_001189451.1:p.Arg32His, NP_001189451.1:p.Arg32Pro, NP_001189451.1:p.Arg32Leu, XP_011513189.1:p.Arg32His, XP_011513189.1:p.Arg32Pro, XP_011513189.1:p.Arg32Leu, XP_016866757.1:p.Arg32His, XP_016866757.1:p.Arg32Pro, XP_016866757.1:p.Arg32Leu, XP_011513186.1:p.Arg32His, XP_011513186.1:p.Arg32Pro, XP_011513186.1:p.Arg32Leu, XP_024302309.1:p.Arg32His, XP_024302309.1:p.Arg32Pro, XP_024302309.1:p.Arg32Leu, XP_024302308.1:p.Arg32His, XP_024302308.1:p.Arg32Pro, XP_024302308.1:p.Arg32Leu, XP_047275284.1:p.Arg32His, XP_047275284.1:p.Arg32Pro, XP_047275284.1:p.Arg32Leu, XP_047275279.1:p.Arg50His, XP_047275279.1:p.Arg50Pro, XP_047275279.1:p.Arg50Leu, XP_047275275.1:p.Arg50His, XP_047275275.1:p.Arg50Pro, XP_047275275.1:p.Arg50Leu, XP_047275281.1:p.Arg50His, XP_047275281.1:p.Arg50Pro, XP_047275281.1:p.Arg50Leu, XP_047275285.1:p.Arg32His, XP_047275285.1:p.Arg32Pro, XP_047275285.1:p.Arg32Leu, XP_047275287.1:p.Arg50His, XP_047275287.1:p.Arg50Pro, XP_047275287.1:p.Arg50Leu, XP_047275288.1:p.Arg50His, XP_047275288.1:p.Arg50Pro, XP_047275288.1:p.Arg50Leu, XP_047275283.1:p.Arg32His, XP_047275283.1:p.Arg32Pro, XP_047275283.1:p.Arg32Leu, XP_047275289.1:p.Arg50His, XP_047275289.1:p.Arg50Pro, XP_047275289.1:p.Arg50Leu, XP_047275277.1:p.Arg50His, XP_047275277.1:p.Arg50Pro, XP_047275277.1:p.Arg50Leu, XP_047275280.1:p.Arg50His, XP_047275280.1:p.Arg50Pro, XP_047275280.1:p.Arg50Leu, XP_047275276.1:p.Arg50His, XP_047275276.1:p.Arg50Pro, XP_047275276.1:p.Arg50Leu, XP_047275278.1:p.Arg50His, XP_047275278.1:p.Arg50Pro, XP_047275278.1:p.Arg50Leu, XP_047275282.1:p.Arg50His, XP_047275282.1:p.Arg50Pro, XP_047275282.1:p.Arg50Leu, XP_047275286.1:p.Arg32His, XP_047275286.1:p.Arg32Pro, XP_047275286.1:p.Arg32Leu, XP_047275274.1:p.Arg50His, XP_047275274.1:p.Arg50Pro, XP_047275274.1:p.Arg50Leu, XP_047275290.1:p.Arg50His, XP_047275290.1:p.Arg50Pro, XP_047275290.1:p.Arg50Leu

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