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Items: 1 to 20 of 566

1.

rs1491363343 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    5:94909333 (GRCh38)
    5:94245038 (GRCh37)
    Canonical SPDI:
    NC_000005.10:94909332:GA:
    Gene:
    MCTP1 (Varview)
    Functional Consequence:
    frameshift_variant,intron_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (GnomAD_exomes)
    -=0.000008/2 (TOPMED)
    HGVS:
    NC_000005.10:g.94909333_94909334del, NC_000005.9:g.94245038_94245039del, NM_024717.7:c.1569_1570del, NM_024717.6:c.1569_1570del, NM_024717.5:c.1569_1570del, NM_024717.4:c.1569_1570del, XM_005272082.6:c.951_952del, XM_005272082.5:c.951_952del, XM_005272082.4:c.951_952del, XM_005272082.3:c.951_952del, XM_005272082.2:c.951_952del, XM_005272082.1:c.951_952del, NM_001002796.5:c.906_907del, NM_001002796.4:c.906_907del, NM_001002796.3:c.906_907del, NM_001002796.2:c.906_907del, XM_011543649.4:c.792_793del, XM_011543649.3:c.792_793del, XM_011543649.2:c.792_793del, XM_011543649.1:c.792_793del, XM_017009855.3:c.1530_1531del, XM_017009855.2:c.753_754del, XM_017009855.1:c.753_754del, XM_017009858.3:c.1452_1453del, XM_017009858.2:c.675_676del, XM_017009858.1:c.675_676del, XM_011543650.3:c.552_553del, XM_011543650.2:c.552_553del, XM_011543650.1:c.552_553del, NM_001297777.3:c.768_769del, NM_001297777.2:c.768_769del, NM_001297777.1:c.768_769del, XM_017009859.2:c.1569_1570del, XM_017009859.1:c.792_793del, NM_001393535.1:c.1491_1492del, NM_001393536.1:c.1431_1432del, NM_001393537.1:c.1392_1393del, XM_047417714.1:c.1491_1492del, XM_047417715.1:c.1452_1453del, XM_047417716.1:c.1431_1432del, XM_047417718.1:c.1392_1393del, XM_047417724.1:c.873_874del, XM_047417725.1:c.867_868del, NM_001393539.1:c.828_829del, XM_047417727.1:c.813_814del, XM_047417728.1:c.789_790del, NM_001393540.1:c.906_907del, NM_001393541.1:c.774_775del, NM_001393542.1:c.768_769del, XM_047417730.1:c.867_868del, NM_001393544.1:c.729_730del, NM_001393545.1:c.723_724del, XM_047417732.1:c.828_829del, XM_047417734.1:c.813_814del, NM_001393546.1:c.807_808del, NM_001393547.1:c.789_790del, XM_047417737.1:c.729_730del, NM_001393548.1:c.768_769del, XM_047417711.1:c.1569_1570del, XM_047417712.1:c.1569_1570del, XM_047417713.1:c.1431_1432del, XM_047417719.1:c.1569_1570del, NM_001393538.1:c.906_907del, XM_047417726.1:c.828_829del, XM_047417729.1:c.789_790del, NM_001393543.1:c.768_769del, XM_047417731.1:c.729_730del, XM_047417733.1:c.828_829del, XM_047417735.1:c.789_790del, XM_047417736.1:c.768_769del, XM_047417738.1:c.729_730del, XM_047417723.1:c.1569_1570del, XM_047417717.1:c.1569_1570del, XM_047417739.1:c.906_907del, XM_047417720.1:c.1569_1570del, XM_047417722.1:c.1569_1570del, XM_047417741.1:c.828_829del, NM_001393549.1:c.906_907del, XM_047417742.1:c.729_730del, NM_001393550.1:c.768_769del, NP_078993.4:p.Phe523fs, XP_005272139.1:p.Phe317fs, NP_001002796.1:p.Phe302fs, XP_011541951.1:p.Phe264fs, XP_016865344.2:p.Phe510fs, XP_016865347.2:p.Phe484fs, XP_011541952.1:p.Phe184fs, NP_001284706.1:p.Phe256fs, XP_016865348.2:p.Phe523fs, NP_001380464.1:p.Phe497fs, NP_001380465.1:p.Phe477fs, NP_001380466.1:p.Phe464fs, XP_047273670.1:p.Phe497fs, XP_047273671.1:p.Phe484fs, XP_047273672.1:p.Phe477fs, XP_047273674.1:p.Phe464fs, XP_047273680.1:p.Phe291fs, XP_047273681.1:p.Phe289fs, NP_001380468.1:p.Phe276fs, XP_047273683.1:p.Phe271fs, XP_047273684.1:p.Phe263fs, NP_001380469.1:p.Phe302fs, NP_001380470.1:p.Phe258fs, NP_001380471.1:p.Phe256fs, XP_047273686.1:p.Phe289fs, NP_001380473.1:p.Phe243fs, NP_001380474.1:p.Phe241fs, XP_047273688.1:p.Phe276fs, XP_047273690.1:p.Phe271fs, NP_001380475.1:p.Phe269fs, NP_001380476.1:p.Phe263fs, XP_047273693.1:p.Phe243fs, NP_001380477.1:p.Phe256fs, XP_047273667.1:p.Phe523fs, XP_047273668.1:p.Phe523fs, XP_047273669.1:p.Phe477fs, XP_047273675.1:p.Phe523fs, NP_001380467.1:p.Phe302fs, XP_047273682.1:p.Phe276fs, XP_047273685.1:p.Phe263fs, NP_001380472.1:p.Phe256fs, XP_047273687.1:p.Phe243fs, XP_047273689.1:p.Phe276fs, XP_047273691.1:p.Phe263fs, XP_047273692.1:p.Phe256fs, XP_047273694.1:p.Phe243fs, XP_047273679.1:p.Phe523fs, XP_047273673.1:p.Phe523fs, XP_047273695.1:p.Phe302fs, XP_047273676.1:p.Phe523fs, XP_047273678.1:p.Phe523fs, XP_047273697.1:p.Phe276fs, NP_001380478.1:p.Phe302fs, XP_047273698.1:p.Phe243fs, NP_001380479.1:p.Phe256fs

    2.

    rs1487717050 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      5:94708594 (GRCh38)
      5:94044299 (GRCh37)
      Canonical SPDI:
      NC_000005.10:94708593:G:A
      Gene:
      MCTP1 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000005.10:g.94708594G>A, NC_000005.9:g.94044299G>A, NM_024717.7:c.2846C>T, NM_024717.6:c.2846C>T, NM_024717.5:c.2846C>T, NM_024717.4:c.2846C>T, XM_005272082.6:c.2228C>T, XM_005272082.5:c.2228C>T, XM_005272082.4:c.2228C>T, XM_005272082.3:c.2228C>T, XM_005272082.2:c.2228C>T, XM_005272082.1:c.2228C>T, NM_001002796.5:c.2183C>T, NM_001002796.4:c.2183C>T, NM_001002796.3:c.2183C>T, NM_001002796.2:c.2183C>T, XM_011543649.4:c.2069C>T, XM_011543649.3:c.2069C>T, XM_011543649.2:c.2069C>T, XM_011543649.1:c.2069C>T, XM_017009855.3:c.2807C>T, XM_017009855.2:c.2030C>T, XM_017009855.1:c.2030C>T, XM_017009858.3:c.2729C>T, XM_017009858.2:c.1952C>T, XM_017009858.1:c.1952C>T, XM_011543650.3:c.1829C>T, XM_011543650.2:c.1829C>T, XM_011543650.1:c.1829C>T, NM_001297777.3:c.1925C>T, NM_001297777.2:c.1925C>T, NM_001297777.1:c.1925C>T, XM_017009859.2:c.2726C>T, XM_017009859.1:c.1949C>T, NM_001393535.1:c.2768C>T, NM_001393536.1:c.2708C>T, NM_001393537.1:c.2669C>T, XM_047417714.1:c.2648C>T, XM_047417715.1:c.2609C>T, XM_047417716.1:c.2588C>T, XM_047417718.1:c.2549C>T, XM_047417724.1:c.2150C>T, XM_047417725.1:c.2144C>T, NM_001393539.1:c.2105C>T, XM_047417727.1:c.2090C>T, XM_047417728.1:c.2066C>T, NM_001393540.1:c.2063C>T, NM_001393541.1:c.2051C>T, NM_001393542.1:c.2045C>T, XM_047417730.1:c.2024C>T, NM_001393544.1:c.2006C>T, NM_001393545.1:c.2000C>T, XM_047417732.1:c.1985C>T, XM_047417734.1:c.1970C>T, NM_001393546.1:c.1964C>T, NM_001393547.1:c.1946C>T, XM_047417737.1:c.1886C>T, XM_047417711.1:c.2846C>T, NM_001393551.1:c.800C>T, XM_047417712.1:c.2726C>T, XM_047417713.1:c.2708C>T, NM_001393538.1:c.2183C>T, XM_047417726.1:c.2105C>T, XM_047417729.1:c.2066C>T, NM_001393543.1:c.2045C>T, XM_047417731.1:c.2006C>T, XM_047417733.1:c.1985C>T, XM_047417735.1:c.1946C>T, XM_047417736.1:c.1925C>T, XM_047417738.1:c.1886C>T, XM_047417717.1:c.*6C>T, XM_047417720.1:c.*6C>T, XM_047417741.1:c.*6C>T, XM_047417742.1:c.*6C>T, NP_078993.4:p.Thr949Ile, XP_005272139.1:p.Thr743Ile, NP_001002796.1:p.Thr728Ile, XP_011541951.1:p.Thr690Ile, XP_016865344.2:p.Thr936Ile, XP_016865347.2:p.Thr910Ile, XP_011541952.1:p.Thr610Ile, NP_001284706.1:p.Thr642Ile, XP_016865348.2:p.Thr909Ile, NP_001380464.1:p.Thr923Ile, NP_001380465.1:p.Thr903Ile, NP_001380466.1:p.Thr890Ile, XP_047273670.1:p.Thr883Ile, XP_047273671.1:p.Thr870Ile, XP_047273672.1:p.Thr863Ile, XP_047273674.1:p.Thr850Ile, XP_047273680.1:p.Thr717Ile, XP_047273681.1:p.Thr715Ile, NP_001380468.1:p.Thr702Ile, XP_047273683.1:p.Thr697Ile, XP_047273684.1:p.Thr689Ile, NP_001380469.1:p.Thr688Ile, NP_001380470.1:p.Thr684Ile, NP_001380471.1:p.Thr682Ile, XP_047273686.1:p.Thr675Ile, NP_001380473.1:p.Thr669Ile, NP_001380474.1:p.Thr667Ile, XP_047273688.1:p.Thr662Ile, XP_047273690.1:p.Thr657Ile, NP_001380475.1:p.Thr655Ile, NP_001380476.1:p.Thr649Ile, XP_047273693.1:p.Thr629Ile, XP_047273667.1:p.Thr949Ile, NP_001380480.1:p.Thr267Ile, XP_047273668.1:p.Thr909Ile, XP_047273669.1:p.Thr903Ile, NP_001380467.1:p.Thr728Ile, XP_047273682.1:p.Thr702Ile, XP_047273685.1:p.Thr689Ile, NP_001380472.1:p.Thr682Ile, XP_047273687.1:p.Thr669Ile, XP_047273689.1:p.Thr662Ile, XP_047273691.1:p.Thr649Ile, XP_047273692.1:p.Thr642Ile, XP_047273694.1:p.Thr629Ile

      3.

      rs1485288169 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        5:94714790 (GRCh38)
        5:94050495 (GRCh37)
        Canonical SPDI:
        NC_000005.10:94714789:C:T
        Gene:
        MCTP1 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000055/2 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000223/1 (Estonian)
        HGVS:
        NC_000005.10:g.94714790C>T, NC_000005.9:g.94050495C>T, NM_024717.7:c.2707G>A, NM_024717.6:c.2707G>A, NM_024717.5:c.2707G>A, NM_024717.4:c.2707G>A, XM_005272082.6:c.2089G>A, XM_005272082.5:c.2089G>A, XM_005272082.4:c.2089G>A, XM_005272082.3:c.2089G>A, XM_005272082.2:c.2089G>A, XM_005272082.1:c.2089G>A, NM_001002796.5:c.2044G>A, NM_001002796.4:c.2044G>A, NM_001002796.3:c.2044G>A, NM_001002796.2:c.2044G>A, XM_011543649.4:c.1930G>A, XM_011543649.3:c.1930G>A, XM_011543649.2:c.1930G>A, XM_011543649.1:c.1930G>A, XM_017009855.3:c.2668G>A, XM_017009855.2:c.1891G>A, XM_017009855.1:c.1891G>A, XM_017009858.3:c.2590G>A, XM_017009858.2:c.1813G>A, XM_017009858.1:c.1813G>A, XM_011543650.3:c.1690G>A, XM_011543650.2:c.1690G>A, XM_011543650.1:c.1690G>A, NM_001297777.3:c.1786G>A, NM_001297777.2:c.1786G>A, NM_001297777.1:c.1786G>A, XM_017009859.2:c.2587G>A, XM_017009859.1:c.1810G>A, NM_001393535.1:c.2629G>A, NM_001393536.1:c.2569G>A, NM_001393537.1:c.2530G>A, XM_047417714.1:c.2509G>A, XM_047417715.1:c.2470G>A, XM_047417716.1:c.2449G>A, XM_047417718.1:c.2410G>A, XM_047417724.1:c.2011G>A, XM_047417725.1:c.2005G>A, NM_001393539.1:c.1966G>A, XM_047417727.1:c.1951G>A, XM_047417728.1:c.1927G>A, NM_001393540.1:c.1924G>A, NM_001393541.1:c.1912G>A, NM_001393542.1:c.1906G>A, XM_047417730.1:c.1885G>A, NM_001393544.1:c.1867G>A, NM_001393545.1:c.1861G>A, XM_047417732.1:c.1846G>A, XM_047417734.1:c.1831G>A, NM_001393546.1:c.1825G>A, NM_001393547.1:c.1807G>A, XM_047417737.1:c.1747G>A, NM_001393548.1:c.1786G>A, XM_047417711.1:c.2707G>A, NM_001393551.1:c.661G>A, XM_047417712.1:c.2587G>A, XM_047417713.1:c.2569G>A, NM_001393538.1:c.2044G>A, XM_047417726.1:c.1966G>A, XM_047417729.1:c.1927G>A, NM_001393543.1:c.1906G>A, XM_047417731.1:c.1867G>A, XM_047417733.1:c.1846G>A, XM_047417735.1:c.1807G>A, XM_047417736.1:c.1786G>A, XM_047417738.1:c.1747G>A, NP_078993.4:p.Glu903Lys, XP_005272139.1:p.Glu697Lys, NP_001002796.1:p.Glu682Lys, XP_011541951.1:p.Glu644Lys, XP_016865344.2:p.Glu890Lys, XP_016865347.2:p.Glu864Lys, XP_011541952.1:p.Glu564Lys, NP_001284706.1:p.Glu596Lys, XP_016865348.2:p.Glu863Lys, NP_001380464.1:p.Glu877Lys, NP_001380465.1:p.Glu857Lys, NP_001380466.1:p.Glu844Lys, XP_047273670.1:p.Glu837Lys, XP_047273671.1:p.Glu824Lys, XP_047273672.1:p.Glu817Lys, XP_047273674.1:p.Glu804Lys, XP_047273680.1:p.Glu671Lys, XP_047273681.1:p.Glu669Lys, NP_001380468.1:p.Glu656Lys, XP_047273683.1:p.Glu651Lys, XP_047273684.1:p.Glu643Lys, NP_001380469.1:p.Glu642Lys, NP_001380470.1:p.Glu638Lys, NP_001380471.1:p.Glu636Lys, XP_047273686.1:p.Glu629Lys, NP_001380473.1:p.Glu623Lys, NP_001380474.1:p.Glu621Lys, XP_047273688.1:p.Glu616Lys, XP_047273690.1:p.Glu611Lys, NP_001380475.1:p.Glu609Lys, NP_001380476.1:p.Glu603Lys, XP_047273693.1:p.Glu583Lys, NP_001380477.1:p.Glu596Lys, XP_047273667.1:p.Glu903Lys, NP_001380480.1:p.Glu221Lys, XP_047273668.1:p.Glu863Lys, XP_047273669.1:p.Glu857Lys, NP_001380467.1:p.Glu682Lys, XP_047273682.1:p.Glu656Lys, XP_047273685.1:p.Glu643Lys, NP_001380472.1:p.Glu636Lys, XP_047273687.1:p.Glu623Lys, XP_047273689.1:p.Glu616Lys, XP_047273691.1:p.Glu603Lys, XP_047273692.1:p.Glu596Lys, XP_047273694.1:p.Glu583Lys

        4.

        rs1484497746 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          5:94912864 (GRCh38)
          5:94248569 (GRCh37)
          Canonical SPDI:
          NC_000005.10:94912863:T:C
          Gene:
          MCTP1 (Varview)
          Functional Consequence:
          intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000005.10:g.94912864T>C, NC_000005.9:g.94248569T>C, NM_024717.7:c.1463A>G, NM_024717.6:c.1463A>G, NM_024717.5:c.1463A>G, NM_024717.4:c.1463A>G, XM_005272082.6:c.845A>G, XM_005272082.5:c.845A>G, XM_005272082.4:c.845A>G, XM_005272082.3:c.845A>G, XM_005272082.2:c.845A>G, XM_005272082.1:c.845A>G, NM_001002796.5:c.800A>G, NM_001002796.4:c.800A>G, NM_001002796.3:c.800A>G, NM_001002796.2:c.800A>G, XM_011543649.4:c.686A>G, XM_011543649.3:c.686A>G, XM_011543649.2:c.686A>G, XM_011543649.1:c.686A>G, XM_017009855.3:c.1424A>G, XM_017009855.2:c.647A>G, XM_017009855.1:c.647A>G, XM_017009858.3:c.1346A>G, XM_017009858.2:c.569A>G, XM_017009858.1:c.569A>G, XM_011543650.3:c.446A>G, XM_011543650.2:c.446A>G, XM_011543650.1:c.446A>G, NM_001297777.3:c.662A>G, NM_001297777.2:c.662A>G, NM_001297777.1:c.662A>G, XM_017009859.2:c.1463A>G, XM_017009859.1:c.686A>G, NM_001393535.1:c.1385A>G, NM_001393536.1:c.1325A>G, NM_001393537.1:c.1286A>G, XM_047417714.1:c.1385A>G, XM_047417715.1:c.1346A>G, XM_047417716.1:c.1325A>G, XM_047417718.1:c.1286A>G, XM_047417724.1:c.767A>G, XM_047417725.1:c.761A>G, NM_001393539.1:c.722A>G, XM_047417727.1:c.707A>G, XM_047417728.1:c.683A>G, NM_001393540.1:c.800A>G, NM_001393541.1:c.668A>G, NM_001393542.1:c.662A>G, XM_047417730.1:c.761A>G, NM_001393544.1:c.623A>G, NM_001393545.1:c.617A>G, XM_047417732.1:c.722A>G, XM_047417734.1:c.707A>G, NM_001393546.1:c.701A>G, NM_001393547.1:c.683A>G, XM_047417737.1:c.623A>G, NM_001393548.1:c.662A>G, XM_047417711.1:c.1463A>G, XM_047417712.1:c.1463A>G, XM_047417713.1:c.1325A>G, XM_047417719.1:c.1463A>G, NM_001393538.1:c.800A>G, XM_047417726.1:c.722A>G, XM_047417729.1:c.683A>G, NM_001393543.1:c.662A>G, XM_047417731.1:c.623A>G, XM_047417733.1:c.722A>G, XM_047417735.1:c.683A>G, XM_047417736.1:c.662A>G, XM_047417738.1:c.623A>G, XM_047417723.1:c.1463A>G, XM_047417717.1:c.1463A>G, XM_047417739.1:c.800A>G, XM_047417720.1:c.1463A>G, XM_047417722.1:c.1463A>G, XM_047417741.1:c.722A>G, NM_001393549.1:c.800A>G, XM_047417742.1:c.623A>G, NM_001393550.1:c.662A>G, NP_078993.4:p.Asn488Ser, XP_005272139.1:p.Asn282Ser, NP_001002796.1:p.Asn267Ser, XP_011541951.1:p.Asn229Ser, XP_016865344.2:p.Asn475Ser, XP_016865347.2:p.Asn449Ser, XP_011541952.1:p.Asn149Ser, NP_001284706.1:p.Asn221Ser, XP_016865348.2:p.Asn488Ser, NP_001380464.1:p.Asn462Ser, NP_001380465.1:p.Asn442Ser, NP_001380466.1:p.Asn429Ser, XP_047273670.1:p.Asn462Ser, XP_047273671.1:p.Asn449Ser, XP_047273672.1:p.Asn442Ser, XP_047273674.1:p.Asn429Ser, XP_047273680.1:p.Asn256Ser, XP_047273681.1:p.Asn254Ser, NP_001380468.1:p.Asn241Ser, XP_047273683.1:p.Asn236Ser, XP_047273684.1:p.Asn228Ser, NP_001380469.1:p.Asn267Ser, NP_001380470.1:p.Asn223Ser, NP_001380471.1:p.Asn221Ser, XP_047273686.1:p.Asn254Ser, NP_001380473.1:p.Asn208Ser, NP_001380474.1:p.Asn206Ser, XP_047273688.1:p.Asn241Ser, XP_047273690.1:p.Asn236Ser, NP_001380475.1:p.Asn234Ser, NP_001380476.1:p.Asn228Ser, XP_047273693.1:p.Asn208Ser, NP_001380477.1:p.Asn221Ser, XP_047273667.1:p.Asn488Ser, XP_047273668.1:p.Asn488Ser, XP_047273669.1:p.Asn442Ser, XP_047273675.1:p.Asn488Ser, NP_001380467.1:p.Asn267Ser, XP_047273682.1:p.Asn241Ser, XP_047273685.1:p.Asn228Ser, NP_001380472.1:p.Asn221Ser, XP_047273687.1:p.Asn208Ser, XP_047273689.1:p.Asn241Ser, XP_047273691.1:p.Asn228Ser, XP_047273692.1:p.Asn221Ser, XP_047273694.1:p.Asn208Ser, XP_047273679.1:p.Asn488Ser, XP_047273673.1:p.Asn488Ser, XP_047273695.1:p.Asn267Ser, XP_047273676.1:p.Asn488Ser, XP_047273678.1:p.Asn488Ser, XP_047273697.1:p.Asn241Ser, NP_001380478.1:p.Asn267Ser, XP_047273698.1:p.Asn208Ser, NP_001380479.1:p.Asn221Ser

          5.

          rs1484406788 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            5:94799030 (GRCh38)
            5:94134735 (GRCh37)
            Canonical SPDI:
            NC_000005.10:94799029:T:C
            Gene:
            MCTP1 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            HGVS:
            NC_000005.10:g.94799030T>C, NC_000005.9:g.94134735T>C, NM_024717.7:c.2539A>G, NM_024717.6:c.2539A>G, NM_024717.5:c.2539A>G, NM_024717.4:c.2539A>G, XM_005272082.6:c.1921A>G, XM_005272082.5:c.1921A>G, XM_005272082.4:c.1921A>G, XM_005272082.3:c.1921A>G, XM_005272082.2:c.1921A>G, XM_005272082.1:c.1921A>G, NM_001002796.5:c.1876A>G, NM_001002796.4:c.1876A>G, NM_001002796.3:c.1876A>G, NM_001002796.2:c.1876A>G, XM_011543649.4:c.1762A>G, XM_011543649.3:c.1762A>G, XM_011543649.2:c.1762A>G, XM_011543649.1:c.1762A>G, XM_017009855.3:c.2500A>G, XM_017009855.2:c.1723A>G, XM_017009855.1:c.1723A>G, XM_017009858.3:c.2422A>G, XM_017009858.2:c.1645A>G, XM_017009858.1:c.1645A>G, XM_011543650.3:c.1522A>G, XM_011543650.2:c.1522A>G, XM_011543650.1:c.1522A>G, NM_001393535.1:c.2461A>G, NM_001393536.1:c.2401A>G, NM_001393537.1:c.2362A>G, XM_047417724.1:c.1843A>G, XM_047417725.1:c.1837A>G, NM_001393539.1:c.1798A>G, XM_047417727.1:c.1783A>G, XM_047417728.1:c.1759A>G, NM_001393541.1:c.1744A>G, NM_001393542.1:c.1738A>G, NM_001393544.1:c.1699A>G, NM_001393545.1:c.1693A>G, XM_047417711.1:c.2539A>G, XM_047417713.1:c.2401A>G, XM_047417719.1:c.2539A>G, NM_001393538.1:c.1876A>G, XM_047417726.1:c.1798A>G, XM_047417729.1:c.1759A>G, NM_001393543.1:c.1738A>G, XM_047417731.1:c.1699A>G, XM_047417717.1:c.2539A>G, XM_047417739.1:c.1876A>G, XM_047417741.1:c.1798A>G, XM_047417742.1:c.1699A>G, NP_078993.4:p.Asn847Asp, XP_005272139.1:p.Asn641Asp, NP_001002796.1:p.Asn626Asp, XP_011541951.1:p.Asn588Asp, XP_016865344.2:p.Asn834Asp, XP_016865347.2:p.Asn808Asp, XP_011541952.1:p.Asn508Asp, NP_001380464.1:p.Asn821Asp, NP_001380465.1:p.Asn801Asp, NP_001380466.1:p.Asn788Asp, XP_047273680.1:p.Asn615Asp, XP_047273681.1:p.Asn613Asp, NP_001380468.1:p.Asn600Asp, XP_047273683.1:p.Asn595Asp, XP_047273684.1:p.Asn587Asp, NP_001380470.1:p.Asn582Asp, NP_001380471.1:p.Asn580Asp, NP_001380473.1:p.Asn567Asp, NP_001380474.1:p.Asn565Asp, XP_047273667.1:p.Asn847Asp, XP_047273669.1:p.Asn801Asp, XP_047273675.1:p.Asn847Asp, NP_001380467.1:p.Asn626Asp, XP_047273682.1:p.Asn600Asp, XP_047273685.1:p.Asn587Asp, NP_001380472.1:p.Asn580Asp, XP_047273687.1:p.Asn567Asp, XP_047273673.1:p.Asn847Asp, XP_047273695.1:p.Asn626Asp, XP_047273697.1:p.Asn600Asp, XP_047273698.1:p.Asn567Asp

            6.

            rs1484344201 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              5:94909341 (GRCh38)
              5:94245046 (GRCh37)
              Canonical SPDI:
              NC_000005.10:94909340:A:G
              Gene:
              MCTP1 (Varview)
              Functional Consequence:
              intron_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              NC_000005.10:g.94909341A>G, NC_000005.9:g.94245046A>G, NM_024717.7:c.1562T>C, NM_024717.6:c.1562T>C, NM_024717.5:c.1562T>C, NM_024717.4:c.1562T>C, XM_005272082.6:c.944T>C, XM_005272082.5:c.944T>C, XM_005272082.4:c.944T>C, XM_005272082.3:c.944T>C, XM_005272082.2:c.944T>C, XM_005272082.1:c.944T>C, NM_001002796.5:c.899T>C, NM_001002796.4:c.899T>C, NM_001002796.3:c.899T>C, NM_001002796.2:c.899T>C, XM_011543649.4:c.785T>C, XM_011543649.3:c.785T>C, XM_011543649.2:c.785T>C, XM_011543649.1:c.785T>C, XM_017009855.3:c.1523T>C, XM_017009855.2:c.746T>C, XM_017009855.1:c.746T>C, XM_017009858.3:c.1445T>C, XM_017009858.2:c.668T>C, XM_017009858.1:c.668T>C, XM_011543650.3:c.545T>C, XM_011543650.2:c.545T>C, XM_011543650.1:c.545T>C, NM_001297777.3:c.761T>C, NM_001297777.2:c.761T>C, NM_001297777.1:c.761T>C, XM_017009859.2:c.1562T>C, XM_017009859.1:c.785T>C, NM_001393535.1:c.1484T>C, NM_001393536.1:c.1424T>C, NM_001393537.1:c.1385T>C, XM_047417714.1:c.1484T>C, XM_047417715.1:c.1445T>C, XM_047417716.1:c.1424T>C, XM_047417718.1:c.1385T>C, XM_047417724.1:c.866T>C, XM_047417725.1:c.860T>C, NM_001393539.1:c.821T>C, XM_047417727.1:c.806T>C, XM_047417728.1:c.782T>C, NM_001393540.1:c.899T>C, NM_001393541.1:c.767T>C, NM_001393542.1:c.761T>C, XM_047417730.1:c.860T>C, NM_001393544.1:c.722T>C, NM_001393545.1:c.716T>C, XM_047417732.1:c.821T>C, XM_047417734.1:c.806T>C, NM_001393546.1:c.800T>C, NM_001393547.1:c.782T>C, XM_047417737.1:c.722T>C, NM_001393548.1:c.761T>C, XM_047417711.1:c.1562T>C, XM_047417712.1:c.1562T>C, XM_047417713.1:c.1424T>C, XM_047417719.1:c.1562T>C, NM_001393538.1:c.899T>C, XM_047417726.1:c.821T>C, XM_047417729.1:c.782T>C, NM_001393543.1:c.761T>C, XM_047417731.1:c.722T>C, XM_047417733.1:c.821T>C, XM_047417735.1:c.782T>C, XM_047417736.1:c.761T>C, XM_047417738.1:c.722T>C, XM_047417723.1:c.1562T>C, XM_047417717.1:c.1562T>C, XM_047417739.1:c.899T>C, XM_047417720.1:c.1562T>C, XM_047417722.1:c.1562T>C, XM_047417741.1:c.821T>C, NM_001393549.1:c.899T>C, XM_047417742.1:c.722T>C, NM_001393550.1:c.761T>C, NP_078993.4:p.Phe521Ser, XP_005272139.1:p.Phe315Ser, NP_001002796.1:p.Phe300Ser, XP_011541951.1:p.Phe262Ser, XP_016865344.2:p.Phe508Ser, XP_016865347.2:p.Phe482Ser, XP_011541952.1:p.Phe182Ser, NP_001284706.1:p.Phe254Ser, XP_016865348.2:p.Phe521Ser, NP_001380464.1:p.Phe495Ser, NP_001380465.1:p.Phe475Ser, NP_001380466.1:p.Phe462Ser, XP_047273670.1:p.Phe495Ser, XP_047273671.1:p.Phe482Ser, XP_047273672.1:p.Phe475Ser, XP_047273674.1:p.Phe462Ser, XP_047273680.1:p.Phe289Ser, XP_047273681.1:p.Phe287Ser, NP_001380468.1:p.Phe274Ser, XP_047273683.1:p.Phe269Ser, XP_047273684.1:p.Phe261Ser, NP_001380469.1:p.Phe300Ser, NP_001380470.1:p.Phe256Ser, NP_001380471.1:p.Phe254Ser, XP_047273686.1:p.Phe287Ser, NP_001380473.1:p.Phe241Ser, NP_001380474.1:p.Phe239Ser, XP_047273688.1:p.Phe274Ser, XP_047273690.1:p.Phe269Ser, NP_001380475.1:p.Phe267Ser, NP_001380476.1:p.Phe261Ser, XP_047273693.1:p.Phe241Ser, NP_001380477.1:p.Phe254Ser, XP_047273667.1:p.Phe521Ser, XP_047273668.1:p.Phe521Ser, XP_047273669.1:p.Phe475Ser, XP_047273675.1:p.Phe521Ser, NP_001380467.1:p.Phe300Ser, XP_047273682.1:p.Phe274Ser, XP_047273685.1:p.Phe261Ser, NP_001380472.1:p.Phe254Ser, XP_047273687.1:p.Phe241Ser, XP_047273689.1:p.Phe274Ser, XP_047273691.1:p.Phe261Ser, XP_047273692.1:p.Phe254Ser, XP_047273694.1:p.Phe241Ser, XP_047273679.1:p.Phe521Ser, XP_047273673.1:p.Phe521Ser, XP_047273695.1:p.Phe300Ser, XP_047273676.1:p.Phe521Ser, XP_047273678.1:p.Phe521Ser, XP_047273697.1:p.Phe274Ser, NP_001380478.1:p.Phe300Ser, XP_047273698.1:p.Phe241Ser, NP_001380479.1:p.Phe254Ser

              7.

              rs1483139779 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                5:94917970 (GRCh38)
                5:94253675 (GRCh37)
                Canonical SPDI:
                NC_000005.10:94917969:A:C
                Gene:
                MCTP1 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000005.10:g.94917970A>C, NC_000005.9:g.94253675A>C, NM_024717.7:c.1276T>G, NM_024717.6:c.1276T>G, NM_024717.5:c.1276T>G, NM_024717.4:c.1276T>G, XM_005272082.6:c.658T>G, XM_005272082.5:c.658T>G, XM_005272082.4:c.658T>G, XM_005272082.3:c.658T>G, XM_005272082.2:c.658T>G, XM_005272082.1:c.658T>G, NM_001002796.5:c.613T>G, NM_001002796.4:c.613T>G, NM_001002796.3:c.613T>G, NM_001002796.2:c.613T>G, XM_011543649.4:c.499T>G, XM_011543649.3:c.499T>G, XM_011543649.2:c.499T>G, XM_011543649.1:c.499T>G, XM_017009855.3:c.1237T>G, XM_017009855.2:c.460T>G, XM_017009855.1:c.460T>G, XM_011543650.3:c.259T>G, XM_011543650.2:c.259T>G, XM_011543650.1:c.259T>G, XM_017009859.2:c.1276T>G, XM_017009859.1:c.499T>G, XM_047417725.1:c.574T>G, NM_001393540.1:c.613T>G, XM_047417730.1:c.574T>G, NM_001393546.1:c.514T>G, XM_047417711.1:c.1276T>G, XM_047417712.1:c.1276T>G, XM_047417719.1:c.1276T>G, NM_001393538.1:c.613T>G, XM_047417723.1:c.1276T>G, XM_047417717.1:c.1276T>G, XM_047417739.1:c.613T>G, XM_047417720.1:c.1276T>G, XM_047417722.1:c.1276T>G, NM_001393549.1:c.613T>G, NP_078993.4:p.Cys426Gly, XP_005272139.1:p.Cys220Gly, NP_001002796.1:p.Cys205Gly, XP_011541951.1:p.Cys167Gly, XP_016865344.2:p.Cys413Gly, XP_011541952.1:p.Cys87Gly, XP_016865348.2:p.Cys426Gly, XP_047273681.1:p.Cys192Gly, NP_001380469.1:p.Cys205Gly, XP_047273686.1:p.Cys192Gly, NP_001380475.1:p.Cys172Gly, XP_047273667.1:p.Cys426Gly, XP_047273668.1:p.Cys426Gly, XP_047273675.1:p.Cys426Gly, NP_001380467.1:p.Cys205Gly, XP_047273679.1:p.Cys426Gly, XP_047273673.1:p.Cys426Gly, XP_047273695.1:p.Cys205Gly, XP_047273676.1:p.Cys426Gly, XP_047273678.1:p.Cys426Gly, NP_001380478.1:p.Cys205Gly

                8.

                rs1482061393 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  5:94871358 (GRCh38)
                  5:94207063 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:94871357:C:
                  Gene:
                  MCTP1 (Varview)
                  Functional Consequence:
                  frameshift_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000005.10:g.94871358del, NC_000005.9:g.94207063del, NM_024717.7:c.2096del, NM_024717.6:c.2096del, NM_024717.5:c.2096del, NM_024717.4:c.2096del, XM_005272082.6:c.1478del, XM_005272082.5:c.1478del, XM_005272082.4:c.1478del, XM_005272082.3:c.1478del, XM_005272082.2:c.1478del, XM_005272082.1:c.1478del, NM_001002796.5:c.1433del, NM_001002796.4:c.1433del, NM_001002796.3:c.1433del, NM_001002796.2:c.1433del, XM_011543649.4:c.1319del, XM_011543649.3:c.1319del, XM_011543649.2:c.1319del, XM_011543649.1:c.1319del, XM_017009855.3:c.2057del, XM_017009855.2:c.1280del, XM_017009855.1:c.1280del, XM_017009858.3:c.1979del, XM_017009858.2:c.1202del, XM_017009858.1:c.1202del, XM_011543650.3:c.1079del, XM_011543650.2:c.1079del, XM_011543650.1:c.1079del, NM_001297777.3:c.1295del, NM_001297777.2:c.1295del, NM_001297777.1:c.1295del, XM_017009859.2:c.2096del, XM_017009859.1:c.1319del, NM_001393535.1:c.2018del, NM_001393536.1:c.1958del, NM_001393537.1:c.1919del, XM_047417714.1:c.2018del, XM_047417715.1:c.1979del, XM_047417716.1:c.1958del, XM_047417718.1:c.1919del, XM_047417724.1:c.1400del, XM_047417725.1:c.1394del, NM_001393539.1:c.1355del, XM_047417727.1:c.1340del, XM_047417728.1:c.1316del, NM_001393540.1:c.1433del, NM_001393541.1:c.1301del, NM_001393542.1:c.1295del, XM_047417730.1:c.1394del, NM_001393544.1:c.1256del, NM_001393545.1:c.1250del, XM_047417732.1:c.1355del, XM_047417734.1:c.1340del, NM_001393546.1:c.1334del, NM_001393547.1:c.1316del, XM_047417737.1:c.1256del, NM_001393548.1:c.1295del, XM_047417711.1:c.2096del, XM_047417712.1:c.2096del, XM_047417713.1:c.1958del, XM_047417719.1:c.2096del, NM_001393538.1:c.1433del, XM_047417726.1:c.1355del, XM_047417729.1:c.1316del, NM_001393543.1:c.1295del, XM_047417731.1:c.1256del, XM_047417733.1:c.1355del, XM_047417735.1:c.1316del, XM_047417736.1:c.1295del, XM_047417738.1:c.1256del, XM_047417723.1:c.2096del, XM_047417717.1:c.2096del, XM_047417739.1:c.1433del, XM_047417720.1:c.2096del, XM_047417722.1:c.2096del, XM_047417741.1:c.1355del, NM_001393549.1:c.1433del, XM_047417742.1:c.1256del, NM_001393550.1:c.1295del, NP_078993.4:p.Arg699fs, XP_005272139.1:p.Arg493fs, NP_001002796.1:p.Arg478fs, XP_011541951.1:p.Arg440fs, XP_016865344.2:p.Arg686fs, XP_016865347.2:p.Arg660fs, XP_011541952.1:p.Arg360fs, NP_001284706.1:p.Arg432fs, XP_016865348.2:p.Arg699fs, NP_001380464.1:p.Arg673fs, NP_001380465.1:p.Arg653fs, NP_001380466.1:p.Arg640fs, XP_047273670.1:p.Arg673fs, XP_047273671.1:p.Arg660fs, XP_047273672.1:p.Arg653fs, XP_047273674.1:p.Arg640fs, XP_047273680.1:p.Arg467fs, XP_047273681.1:p.Arg465fs, NP_001380468.1:p.Arg452fs, XP_047273683.1:p.Arg447fs, XP_047273684.1:p.Arg439fs, NP_001380469.1:p.Arg478fs, NP_001380470.1:p.Arg434fs, NP_001380471.1:p.Arg432fs, XP_047273686.1:p.Arg465fs, NP_001380473.1:p.Arg419fs, NP_001380474.1:p.Arg417fs, XP_047273688.1:p.Arg452fs, XP_047273690.1:p.Arg447fs, NP_001380475.1:p.Arg445fs, NP_001380476.1:p.Arg439fs, XP_047273693.1:p.Arg419fs, NP_001380477.1:p.Arg432fs, XP_047273667.1:p.Arg699fs, XP_047273668.1:p.Arg699fs, XP_047273669.1:p.Arg653fs, XP_047273675.1:p.Arg699fs, NP_001380467.1:p.Arg478fs, XP_047273682.1:p.Arg452fs, XP_047273685.1:p.Arg439fs, NP_001380472.1:p.Arg432fs, XP_047273687.1:p.Arg419fs, XP_047273689.1:p.Arg452fs, XP_047273691.1:p.Arg439fs, XP_047273692.1:p.Arg432fs, XP_047273694.1:p.Arg419fs, XP_047273679.1:p.Arg699fs, XP_047273673.1:p.Arg699fs, XP_047273695.1:p.Arg478fs, XP_047273676.1:p.Arg699fs, XP_047273678.1:p.Arg699fs, XP_047273697.1:p.Arg452fs, NP_001380478.1:p.Arg478fs, XP_047273698.1:p.Arg419fs, NP_001380479.1:p.Arg432fs

                  9.

                  rs1479713978 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    5:94708595 (GRCh38)
                    5:94044300 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:94708594:T:A
                    Gene:
                    MCTP1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
                    HGVS:
                    NC_000005.10:g.94708595T>A, NC_000005.9:g.94044300T>A, NM_024717.7:c.2845A>T, NM_024717.6:c.2845A>T, NM_024717.5:c.2845A>T, NM_024717.4:c.2845A>T, XM_005272082.6:c.2227A>T, XM_005272082.5:c.2227A>T, XM_005272082.4:c.2227A>T, XM_005272082.3:c.2227A>T, XM_005272082.2:c.2227A>T, XM_005272082.1:c.2227A>T, NM_001002796.5:c.2182A>T, NM_001002796.4:c.2182A>T, NM_001002796.3:c.2182A>T, NM_001002796.2:c.2182A>T, XM_011543649.4:c.2068A>T, XM_011543649.3:c.2068A>T, XM_011543649.2:c.2068A>T, XM_011543649.1:c.2068A>T, XM_017009855.3:c.2806A>T, XM_017009855.2:c.2029A>T, XM_017009855.1:c.2029A>T, XM_017009858.3:c.2728A>T, XM_017009858.2:c.1951A>T, XM_017009858.1:c.1951A>T, XM_011543650.3:c.1828A>T, XM_011543650.2:c.1828A>T, XM_011543650.1:c.1828A>T, NM_001297777.3:c.1924A>T, NM_001297777.2:c.1924A>T, NM_001297777.1:c.1924A>T, XM_017009859.2:c.2725A>T, XM_017009859.1:c.1948A>T, NM_001393535.1:c.2767A>T, NM_001393536.1:c.2707A>T, NM_001393537.1:c.2668A>T, XM_047417714.1:c.2647A>T, XM_047417715.1:c.2608A>T, XM_047417716.1:c.2587A>T, XM_047417718.1:c.2548A>T, XM_047417724.1:c.2149A>T, XM_047417725.1:c.2143A>T, NM_001393539.1:c.2104A>T, XM_047417727.1:c.2089A>T, XM_047417728.1:c.2065A>T, NM_001393540.1:c.2062A>T, NM_001393541.1:c.2050A>T, NM_001393542.1:c.2044A>T, XM_047417730.1:c.2023A>T, NM_001393544.1:c.2005A>T, NM_001393545.1:c.1999A>T, XM_047417732.1:c.1984A>T, XM_047417734.1:c.1969A>T, NM_001393546.1:c.1963A>T, NM_001393547.1:c.1945A>T, XM_047417737.1:c.1885A>T, XM_047417711.1:c.2845A>T, NM_001393551.1:c.799A>T, XM_047417712.1:c.2725A>T, XM_047417713.1:c.2707A>T, NM_001393538.1:c.2182A>T, XM_047417726.1:c.2104A>T, XM_047417729.1:c.2065A>T, NM_001393543.1:c.2044A>T, XM_047417731.1:c.2005A>T, XM_047417733.1:c.1984A>T, XM_047417735.1:c.1945A>T, XM_047417736.1:c.1924A>T, XM_047417738.1:c.1885A>T, XM_047417717.1:c.*5A>T, XM_047417720.1:c.*5A>T, XM_047417741.1:c.*5A>T, XM_047417742.1:c.*5A>T, NP_078993.4:p.Thr949Ser, XP_005272139.1:p.Thr743Ser, NP_001002796.1:p.Thr728Ser, XP_011541951.1:p.Thr690Ser, XP_016865344.2:p.Thr936Ser, XP_016865347.2:p.Thr910Ser, XP_011541952.1:p.Thr610Ser, NP_001284706.1:p.Thr642Ser, XP_016865348.2:p.Thr909Ser, NP_001380464.1:p.Thr923Ser, NP_001380465.1:p.Thr903Ser, NP_001380466.1:p.Thr890Ser, XP_047273670.1:p.Thr883Ser, XP_047273671.1:p.Thr870Ser, XP_047273672.1:p.Thr863Ser, XP_047273674.1:p.Thr850Ser, XP_047273680.1:p.Thr717Ser, XP_047273681.1:p.Thr715Ser, NP_001380468.1:p.Thr702Ser, XP_047273683.1:p.Thr697Ser, XP_047273684.1:p.Thr689Ser, NP_001380469.1:p.Thr688Ser, NP_001380470.1:p.Thr684Ser, NP_001380471.1:p.Thr682Ser, XP_047273686.1:p.Thr675Ser, NP_001380473.1:p.Thr669Ser, NP_001380474.1:p.Thr667Ser, XP_047273688.1:p.Thr662Ser, XP_047273690.1:p.Thr657Ser, NP_001380475.1:p.Thr655Ser, NP_001380476.1:p.Thr649Ser, XP_047273693.1:p.Thr629Ser, XP_047273667.1:p.Thr949Ser, NP_001380480.1:p.Thr267Ser, XP_047273668.1:p.Thr909Ser, XP_047273669.1:p.Thr903Ser, NP_001380467.1:p.Thr728Ser, XP_047273682.1:p.Thr702Ser, XP_047273685.1:p.Thr689Ser, NP_001380472.1:p.Thr682Ser, XP_047273687.1:p.Thr669Ser, XP_047273689.1:p.Thr662Ser, XP_047273691.1:p.Thr649Ser, XP_047273692.1:p.Thr642Ser, XP_047273694.1:p.Thr629Ser

                    10.

                    rs1479215820 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:94870483 (GRCh38)
                      5:94206188 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:94870482:G:A
                      Gene:
                      MCTP1 (Varview)
                      Functional Consequence:
                      synonymous_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000005.10:g.94870483G>A, NC_000005.9:g.94206188G>A, NM_024717.7:c.2250C>T, NM_024717.6:c.2250C>T, NM_024717.5:c.2250C>T, NM_024717.4:c.2250C>T, XM_005272082.6:c.1632C>T, XM_005272082.5:c.1632C>T, XM_005272082.4:c.1632C>T, XM_005272082.3:c.1632C>T, XM_005272082.2:c.1632C>T, XM_005272082.1:c.1632C>T, NM_001002796.5:c.1587C>T, NM_001002796.4:c.1587C>T, NM_001002796.3:c.1587C>T, NM_001002796.2:c.1587C>T, XM_011543649.4:c.1473C>T, XM_011543649.3:c.1473C>T, XM_011543649.2:c.1473C>T, XM_011543649.1:c.1473C>T, XM_017009855.3:c.2211C>T, XM_017009855.2:c.1434C>T, XM_017009855.1:c.1434C>T, XM_017009858.3:c.2133C>T, XM_017009858.2:c.1356C>T, XM_017009858.1:c.1356C>T, XM_011543650.3:c.1233C>T, XM_011543650.2:c.1233C>T, XM_011543650.1:c.1233C>T, NM_001297777.3:c.1449C>T, NM_001297777.2:c.1449C>T, NM_001297777.1:c.1449C>T, XM_017009859.2:c.2250C>T, XM_017009859.1:c.1473C>T, NM_001393535.1:c.2172C>T, NM_001393536.1:c.2112C>T, NM_001393537.1:c.2073C>T, XM_047417714.1:c.2172C>T, XM_047417715.1:c.2133C>T, XM_047417716.1:c.2112C>T, XM_047417718.1:c.2073C>T, XM_047417724.1:c.1554C>T, XM_047417725.1:c.1548C>T, NM_001393539.1:c.1509C>T, XM_047417727.1:c.1494C>T, XM_047417728.1:c.1470C>T, NM_001393540.1:c.1587C>T, NM_001393541.1:c.1455C>T, NM_001393542.1:c.1449C>T, XM_047417730.1:c.1548C>T, NM_001393544.1:c.1410C>T, NM_001393545.1:c.1404C>T, XM_047417732.1:c.1509C>T, XM_047417734.1:c.1494C>T, NM_001393546.1:c.1488C>T, NM_001393547.1:c.1470C>T, XM_047417737.1:c.1410C>T, NM_001393548.1:c.1449C>T, XM_047417711.1:c.2250C>T, XM_047417712.1:c.2250C>T, XM_047417713.1:c.2112C>T, XM_047417719.1:c.2250C>T, NM_001393538.1:c.1587C>T, XM_047417726.1:c.1509C>T, XM_047417729.1:c.1470C>T, NM_001393543.1:c.1449C>T, XM_047417731.1:c.1410C>T, XM_047417733.1:c.1509C>T, XM_047417735.1:c.1470C>T, XM_047417736.1:c.1449C>T, XM_047417738.1:c.1410C>T, XM_047417723.1:c.2250C>T, XM_047417717.1:c.2250C>T, XM_047417739.1:c.1587C>T, XM_047417720.1:c.2250C>T, XM_047417722.1:c.2250C>T, XM_047417741.1:c.1509C>T, NM_001393549.1:c.1587C>T, XM_047417742.1:c.1410C>T, NM_001393550.1:c.1347C>T

                      11.

                      rs1479186739 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        5:94714824 (GRCh38)
                        5:94050529 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:94714823:G:C
                        Gene:
                        MCTP1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000224/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000012/3 (GnomAD_exomes)
                        C=0.000223/1 (Estonian)
                        HGVS:
                        NC_000005.10:g.94714824G>C, NC_000005.9:g.94050529G>C, NM_024717.7:c.2673C>G, NM_024717.6:c.2673C>G, NM_024717.5:c.2673C>G, NM_024717.4:c.2673C>G, XM_005272082.6:c.2055C>G, XM_005272082.5:c.2055C>G, XM_005272082.4:c.2055C>G, XM_005272082.3:c.2055C>G, XM_005272082.2:c.2055C>G, XM_005272082.1:c.2055C>G, NM_001002796.5:c.2010C>G, NM_001002796.4:c.2010C>G, NM_001002796.3:c.2010C>G, NM_001002796.2:c.2010C>G, XM_011543649.4:c.1896C>G, XM_011543649.3:c.1896C>G, XM_011543649.2:c.1896C>G, XM_011543649.1:c.1896C>G, XM_017009855.3:c.2634C>G, XM_017009855.2:c.1857C>G, XM_017009855.1:c.1857C>G, XM_017009858.3:c.2556C>G, XM_017009858.2:c.1779C>G, XM_017009858.1:c.1779C>G, XM_011543650.3:c.1656C>G, XM_011543650.2:c.1656C>G, XM_011543650.1:c.1656C>G, NM_001297777.3:c.1752C>G, NM_001297777.2:c.1752C>G, NM_001297777.1:c.1752C>G, XM_017009859.2:c.2553C>G, XM_017009859.1:c.1776C>G, NM_001393535.1:c.2595C>G, NM_001393536.1:c.2535C>G, NM_001393537.1:c.2496C>G, XM_047417714.1:c.2475C>G, XM_047417715.1:c.2436C>G, XM_047417716.1:c.2415C>G, XM_047417718.1:c.2376C>G, XM_047417724.1:c.1977C>G, XM_047417725.1:c.1971C>G, NM_001393539.1:c.1932C>G, XM_047417727.1:c.1917C>G, XM_047417728.1:c.1893C>G, NM_001393540.1:c.1890C>G, NM_001393541.1:c.1878C>G, NM_001393542.1:c.1872C>G, XM_047417730.1:c.1851C>G, NM_001393544.1:c.1833C>G, NM_001393545.1:c.1827C>G, XM_047417732.1:c.1812C>G, XM_047417734.1:c.1797C>G, NM_001393546.1:c.1791C>G, NM_001393547.1:c.1773C>G, XM_047417737.1:c.1713C>G, NM_001393548.1:c.1752C>G, XM_047417711.1:c.2673C>G, NM_001393551.1:c.627C>G, XM_047417712.1:c.2553C>G, XM_047417713.1:c.2535C>G, NM_001393538.1:c.2010C>G, XM_047417726.1:c.1932C>G, XM_047417729.1:c.1893C>G, NM_001393543.1:c.1872C>G, XM_047417731.1:c.1833C>G, XM_047417733.1:c.1812C>G, XM_047417735.1:c.1773C>G, XM_047417736.1:c.1752C>G, XM_047417738.1:c.1713C>G

                        12.

                        rs1477331534 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          5:94894756 (GRCh38)
                          5:94230461 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:94894755:G:T
                          Gene:
                          MCTP1 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000005.10:g.94894756G>T, NC_000005.9:g.94230461G>T, NM_024717.7:c.1732C>A, NM_024717.6:c.1732C>A, NM_024717.5:c.1732C>A, NM_024717.4:c.1732C>A, XM_005272082.6:c.1114C>A, XM_005272082.5:c.1114C>A, XM_005272082.4:c.1114C>A, XM_005272082.3:c.1114C>A, XM_005272082.2:c.1114C>A, XM_005272082.1:c.1114C>A, NM_001002796.5:c.1069C>A, NM_001002796.4:c.1069C>A, NM_001002796.3:c.1069C>A, NM_001002796.2:c.1069C>A, XM_011543649.4:c.955C>A, XM_011543649.3:c.955C>A, XM_011543649.2:c.955C>A, XM_011543649.1:c.955C>A, XM_017009855.3:c.1693C>A, XM_017009855.2:c.916C>A, XM_017009855.1:c.916C>A, XM_017009858.3:c.1615C>A, XM_017009858.2:c.838C>A, XM_017009858.1:c.838C>A, XM_011543650.3:c.715C>A, XM_011543650.2:c.715C>A, XM_011543650.1:c.715C>A, NM_001297777.3:c.931C>A, NM_001297777.2:c.931C>A, NM_001297777.1:c.931C>A, XM_017009859.2:c.1732C>A, XM_017009859.1:c.955C>A, NM_001393535.1:c.1654C>A, NM_001393536.1:c.1594C>A, NM_001393537.1:c.1555C>A, XM_047417714.1:c.1654C>A, XM_047417715.1:c.1615C>A, XM_047417716.1:c.1594C>A, XM_047417718.1:c.1555C>A, XM_047417724.1:c.1036C>A, XM_047417725.1:c.1030C>A, NM_001393539.1:c.991C>A, XM_047417727.1:c.976C>A, XM_047417728.1:c.952C>A, NM_001393540.1:c.1069C>A, NM_001393541.1:c.937C>A, NM_001393542.1:c.931C>A, XM_047417730.1:c.1030C>A, NM_001393544.1:c.892C>A, NM_001393545.1:c.886C>A, XM_047417732.1:c.991C>A, XM_047417734.1:c.976C>A, NM_001393546.1:c.970C>A, NM_001393547.1:c.952C>A, XM_047417737.1:c.892C>A, NM_001393548.1:c.931C>A, XM_047417711.1:c.1732C>A, XM_047417712.1:c.1732C>A, XM_047417713.1:c.1594C>A, XM_047417719.1:c.1732C>A, NM_001393538.1:c.1069C>A, XM_047417726.1:c.991C>A, XM_047417729.1:c.952C>A, NM_001393543.1:c.931C>A, XM_047417731.1:c.892C>A, XM_047417733.1:c.991C>A, XM_047417735.1:c.952C>A, XM_047417736.1:c.931C>A, XM_047417738.1:c.892C>A, XM_047417723.1:c.1732C>A, XM_047417717.1:c.1732C>A, XM_047417739.1:c.1069C>A, XM_047417720.1:c.1732C>A, XM_047417722.1:c.1732C>A, XM_047417741.1:c.991C>A, NM_001393549.1:c.1069C>A, XM_047417742.1:c.892C>A, NM_001393550.1:c.931C>A, NP_078993.4:p.Leu578Met, XP_005272139.1:p.Leu372Met, NP_001002796.1:p.Leu357Met, XP_011541951.1:p.Leu319Met, XP_016865344.2:p.Leu565Met, XP_016865347.2:p.Leu539Met, XP_011541952.1:p.Leu239Met, NP_001284706.1:p.Leu311Met, XP_016865348.2:p.Leu578Met, NP_001380464.1:p.Leu552Met, NP_001380465.1:p.Leu532Met, NP_001380466.1:p.Leu519Met, XP_047273670.1:p.Leu552Met, XP_047273671.1:p.Leu539Met, XP_047273672.1:p.Leu532Met, XP_047273674.1:p.Leu519Met, XP_047273680.1:p.Leu346Met, XP_047273681.1:p.Leu344Met, NP_001380468.1:p.Leu331Met, XP_047273683.1:p.Leu326Met, XP_047273684.1:p.Leu318Met, NP_001380469.1:p.Leu357Met, NP_001380470.1:p.Leu313Met, NP_001380471.1:p.Leu311Met, XP_047273686.1:p.Leu344Met, NP_001380473.1:p.Leu298Met, NP_001380474.1:p.Leu296Met, XP_047273688.1:p.Leu331Met, XP_047273690.1:p.Leu326Met, NP_001380475.1:p.Leu324Met, NP_001380476.1:p.Leu318Met, XP_047273693.1:p.Leu298Met, NP_001380477.1:p.Leu311Met, XP_047273667.1:p.Leu578Met, XP_047273668.1:p.Leu578Met, XP_047273669.1:p.Leu532Met, XP_047273675.1:p.Leu578Met, NP_001380467.1:p.Leu357Met, XP_047273682.1:p.Leu331Met, XP_047273685.1:p.Leu318Met, NP_001380472.1:p.Leu311Met, XP_047273687.1:p.Leu298Met, XP_047273689.1:p.Leu331Met, XP_047273691.1:p.Leu318Met, XP_047273692.1:p.Leu311Met, XP_047273694.1:p.Leu298Met, XP_047273679.1:p.Leu578Met, XP_047273673.1:p.Leu578Met, XP_047273695.1:p.Leu357Met, XP_047273676.1:p.Leu578Met, XP_047273678.1:p.Leu578Met, XP_047273697.1:p.Leu331Met, NP_001380478.1:p.Leu357Met, XP_047273698.1:p.Leu298Met, NP_001380479.1:p.Leu311Met

                          13.

                          rs1472726888 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            5:94917896 (GRCh38)
                            5:94253601 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:94917895:T:A
                            Gene:
                            MCTP1 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.94917896T>A, NC_000005.9:g.94253601T>A, NM_024717.7:c.1350A>T, NM_024717.6:c.1350A>T, NM_024717.5:c.1350A>T, NM_024717.4:c.1350A>T, XM_005272082.6:c.732A>T, XM_005272082.5:c.732A>T, XM_005272082.4:c.732A>T, XM_005272082.3:c.732A>T, XM_005272082.2:c.732A>T, XM_005272082.1:c.732A>T, NM_001002796.5:c.687A>T, NM_001002796.4:c.687A>T, NM_001002796.3:c.687A>T, NM_001002796.2:c.687A>T, XM_011543649.4:c.573A>T, XM_011543649.3:c.573A>T, XM_011543649.2:c.573A>T, XM_011543649.1:c.573A>T, XM_017009855.3:c.1311A>T, XM_017009855.2:c.534A>T, XM_017009855.1:c.534A>T, XM_011543650.3:c.333A>T, XM_011543650.2:c.333A>T, XM_011543650.1:c.333A>T, XM_017009859.2:c.1350A>T, XM_017009859.1:c.573A>T, XM_047417725.1:c.648A>T, NM_001393540.1:c.687A>T, XM_047417730.1:c.648A>T, NM_001393546.1:c.588A>T, XM_047417711.1:c.1350A>T, XM_047417712.1:c.1350A>T, XM_047417719.1:c.1350A>T, NM_001393538.1:c.687A>T, XM_047417723.1:c.1350A>T, XM_047417717.1:c.1350A>T, XM_047417739.1:c.687A>T, XM_047417720.1:c.1350A>T, XM_047417722.1:c.1350A>T, NM_001393549.1:c.687A>T, NP_078993.4:p.Gln450His, XP_005272139.1:p.Gln244His, NP_001002796.1:p.Gln229His, XP_011541951.1:p.Gln191His, XP_016865344.2:p.Gln437His, XP_011541952.1:p.Gln111His, XP_016865348.2:p.Gln450His, XP_047273681.1:p.Gln216His, NP_001380469.1:p.Gln229His, XP_047273686.1:p.Gln216His, NP_001380475.1:p.Gln196His, XP_047273667.1:p.Gln450His, XP_047273668.1:p.Gln450His, XP_047273675.1:p.Gln450His, NP_001380467.1:p.Gln229His, XP_047273679.1:p.Gln450His, XP_047273673.1:p.Gln450His, XP_047273695.1:p.Gln229His, XP_047273676.1:p.Gln450His, XP_047273678.1:p.Gln450His, NP_001380478.1:p.Gln229His

                            14.

                            rs1471524803 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              5:94894775 (GRCh38)
                              5:94230480 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:94894774:C:A
                              Gene:
                              MCTP1 (Varview)
                              Functional Consequence:
                              synonymous_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000005.10:g.94894775C>A, NC_000005.9:g.94230480C>A, NM_024717.7:c.1713G>T, NM_024717.6:c.1713G>T, NM_024717.5:c.1713G>T, NM_024717.4:c.1713G>T, XM_005272082.6:c.1095G>T, XM_005272082.5:c.1095G>T, XM_005272082.4:c.1095G>T, XM_005272082.3:c.1095G>T, XM_005272082.2:c.1095G>T, XM_005272082.1:c.1095G>T, NM_001002796.5:c.1050G>T, NM_001002796.4:c.1050G>T, NM_001002796.3:c.1050G>T, NM_001002796.2:c.1050G>T, XM_011543649.4:c.936G>T, XM_011543649.3:c.936G>T, XM_011543649.2:c.936G>T, XM_011543649.1:c.936G>T, XM_017009855.3:c.1674G>T, XM_017009855.2:c.897G>T, XM_017009855.1:c.897G>T, XM_017009858.3:c.1596G>T, XM_017009858.2:c.819G>T, XM_017009858.1:c.819G>T, XM_011543650.3:c.696G>T, XM_011543650.2:c.696G>T, XM_011543650.1:c.696G>T, NM_001297777.3:c.912G>T, NM_001297777.2:c.912G>T, NM_001297777.1:c.912G>T, XM_017009859.2:c.1713G>T, XM_017009859.1:c.936G>T, NM_001393535.1:c.1635G>T, NM_001393536.1:c.1575G>T, NM_001393537.1:c.1536G>T, XM_047417714.1:c.1635G>T, XM_047417715.1:c.1596G>T, XM_047417716.1:c.1575G>T, XM_047417718.1:c.1536G>T, XM_047417724.1:c.1017G>T, XM_047417725.1:c.1011G>T, NM_001393539.1:c.972G>T, XM_047417727.1:c.957G>T, XM_047417728.1:c.933G>T, NM_001393540.1:c.1050G>T, NM_001393541.1:c.918G>T, NM_001393542.1:c.912G>T, XM_047417730.1:c.1011G>T, NM_001393544.1:c.873G>T, NM_001393545.1:c.867G>T, XM_047417732.1:c.972G>T, XM_047417734.1:c.957G>T, NM_001393546.1:c.951G>T, NM_001393547.1:c.933G>T, XM_047417737.1:c.873G>T, NM_001393548.1:c.912G>T, XM_047417711.1:c.1713G>T, XM_047417712.1:c.1713G>T, XM_047417713.1:c.1575G>T, XM_047417719.1:c.1713G>T, NM_001393538.1:c.1050G>T, XM_047417726.1:c.972G>T, XM_047417729.1:c.933G>T, NM_001393543.1:c.912G>T, XM_047417731.1:c.873G>T, XM_047417733.1:c.972G>T, XM_047417735.1:c.933G>T, XM_047417736.1:c.912G>T, XM_047417738.1:c.873G>T, XM_047417723.1:c.1713G>T, XM_047417717.1:c.1713G>T, XM_047417739.1:c.1050G>T, XM_047417720.1:c.1713G>T, XM_047417722.1:c.1713G>T, XM_047417741.1:c.972G>T, NM_001393549.1:c.1050G>T, XM_047417742.1:c.873G>T, NM_001393550.1:c.912G>T

                              15.

                              rs1468965756 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                5:94799102 (GRCh38)
                                5:94134807 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:94799101:G:A,NC_000005.10:94799101:G:T
                                Gene:
                                MCTP1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000005.10:g.94799102G>A, NC_000005.10:g.94799102G>T, NC_000005.9:g.94134807G>A, NC_000005.9:g.94134807G>T, NM_024717.7:c.2467C>T, NM_024717.7:c.2467C>A, NM_024717.6:c.2467C>T, NM_024717.6:c.2467C>A, NM_024717.5:c.2467C>T, NM_024717.5:c.2467C>A, NM_024717.4:c.2467C>T, NM_024717.4:c.2467C>A, XM_005272082.6:c.1849C>T, XM_005272082.6:c.1849C>A, XM_005272082.5:c.1849C>T, XM_005272082.5:c.1849C>A, XM_005272082.4:c.1849C>T, XM_005272082.4:c.1849C>A, XM_005272082.3:c.1849C>T, XM_005272082.3:c.1849C>A, XM_005272082.2:c.1849C>T, XM_005272082.2:c.1849C>A, XM_005272082.1:c.1849C>T, XM_005272082.1:c.1849C>A, NM_001002796.5:c.1804C>T, NM_001002796.5:c.1804C>A, NM_001002796.4:c.1804C>T, NM_001002796.4:c.1804C>A, NM_001002796.3:c.1804C>T, NM_001002796.3:c.1804C>A, NM_001002796.2:c.1804C>T, NM_001002796.2:c.1804C>A, XM_011543649.4:c.1690C>T, XM_011543649.4:c.1690C>A, XM_011543649.3:c.1690C>T, XM_011543649.3:c.1690C>A, XM_011543649.2:c.1690C>T, XM_011543649.2:c.1690C>A, XM_011543649.1:c.1690C>T, XM_011543649.1:c.1690C>A, XM_017009855.3:c.2428C>T, XM_017009855.3:c.2428C>A, XM_017009855.2:c.1651C>T, XM_017009855.2:c.1651C>A, XM_017009855.1:c.1651C>T, XM_017009855.1:c.1651C>A, XM_017009858.3:c.2350C>T, XM_017009858.3:c.2350C>A, XM_017009858.2:c.1573C>T, XM_017009858.2:c.1573C>A, XM_017009858.1:c.1573C>T, XM_017009858.1:c.1573C>A, XM_011543650.3:c.1450C>T, XM_011543650.3:c.1450C>A, XM_011543650.2:c.1450C>T, XM_011543650.2:c.1450C>A, XM_011543650.1:c.1450C>T, XM_011543650.1:c.1450C>A, NM_001393535.1:c.2389C>T, NM_001393535.1:c.2389C>A, NM_001393536.1:c.2329C>T, NM_001393536.1:c.2329C>A, NM_001393537.1:c.2290C>T, NM_001393537.1:c.2290C>A, XM_047417724.1:c.1771C>T, XM_047417724.1:c.1771C>A, XM_047417725.1:c.1765C>T, XM_047417725.1:c.1765C>A, NM_001393539.1:c.1726C>T, NM_001393539.1:c.1726C>A, XM_047417727.1:c.1711C>T, XM_047417727.1:c.1711C>A, XM_047417728.1:c.1687C>T, XM_047417728.1:c.1687C>A, NM_001393541.1:c.1672C>T, NM_001393541.1:c.1672C>A, NM_001393542.1:c.1666C>T, NM_001393542.1:c.1666C>A, NM_001393544.1:c.1627C>T, NM_001393544.1:c.1627C>A, NM_001393545.1:c.1621C>T, NM_001393545.1:c.1621C>A, XM_047417711.1:c.2467C>T, XM_047417711.1:c.2467C>A, XM_047417713.1:c.2329C>T, XM_047417713.1:c.2329C>A, XM_047417719.1:c.2467C>T, XM_047417719.1:c.2467C>A, NM_001393538.1:c.1804C>T, NM_001393538.1:c.1804C>A, XM_047417726.1:c.1726C>T, XM_047417726.1:c.1726C>A, XM_047417729.1:c.1687C>T, XM_047417729.1:c.1687C>A, NM_001393543.1:c.1666C>T, NM_001393543.1:c.1666C>A, XM_047417731.1:c.1627C>T, XM_047417731.1:c.1627C>A, XM_047417717.1:c.2467C>T, XM_047417717.1:c.2467C>A, XM_047417739.1:c.1804C>T, XM_047417739.1:c.1804C>A, XM_047417741.1:c.1726C>T, XM_047417741.1:c.1726C>A, XM_047417742.1:c.1627C>T, XM_047417742.1:c.1627C>A, NP_078993.4:p.Leu823Phe, NP_078993.4:p.Leu823Ile, XP_005272139.1:p.Leu617Phe, XP_005272139.1:p.Leu617Ile, NP_001002796.1:p.Leu602Phe, NP_001002796.1:p.Leu602Ile, XP_011541951.1:p.Leu564Phe, XP_011541951.1:p.Leu564Ile, XP_016865344.2:p.Leu810Phe, XP_016865344.2:p.Leu810Ile, XP_016865347.2:p.Leu784Phe, XP_016865347.2:p.Leu784Ile, XP_011541952.1:p.Leu484Phe, XP_011541952.1:p.Leu484Ile, NP_001380464.1:p.Leu797Phe, NP_001380464.1:p.Leu797Ile, NP_001380465.1:p.Leu777Phe, NP_001380465.1:p.Leu777Ile, NP_001380466.1:p.Leu764Phe, NP_001380466.1:p.Leu764Ile, XP_047273680.1:p.Leu591Phe, XP_047273680.1:p.Leu591Ile, XP_047273681.1:p.Leu589Phe, XP_047273681.1:p.Leu589Ile, NP_001380468.1:p.Leu576Phe, NP_001380468.1:p.Leu576Ile, XP_047273683.1:p.Leu571Phe, XP_047273683.1:p.Leu571Ile, XP_047273684.1:p.Leu563Phe, XP_047273684.1:p.Leu563Ile, NP_001380470.1:p.Leu558Phe, NP_001380470.1:p.Leu558Ile, NP_001380471.1:p.Leu556Phe, NP_001380471.1:p.Leu556Ile, NP_001380473.1:p.Leu543Phe, NP_001380473.1:p.Leu543Ile, NP_001380474.1:p.Leu541Phe, NP_001380474.1:p.Leu541Ile, XP_047273667.1:p.Leu823Phe, XP_047273667.1:p.Leu823Ile, XP_047273669.1:p.Leu777Phe, XP_047273669.1:p.Leu777Ile, XP_047273675.1:p.Leu823Phe, XP_047273675.1:p.Leu823Ile, NP_001380467.1:p.Leu602Phe, NP_001380467.1:p.Leu602Ile, XP_047273682.1:p.Leu576Phe, XP_047273682.1:p.Leu576Ile, XP_047273685.1:p.Leu563Phe, XP_047273685.1:p.Leu563Ile, NP_001380472.1:p.Leu556Phe, NP_001380472.1:p.Leu556Ile, XP_047273687.1:p.Leu543Phe, XP_047273687.1:p.Leu543Ile, XP_047273673.1:p.Leu823Phe, XP_047273673.1:p.Leu823Ile, XP_047273695.1:p.Leu602Phe, XP_047273695.1:p.Leu602Ile, XP_047273697.1:p.Leu576Phe, XP_047273697.1:p.Leu576Ile, XP_047273698.1:p.Leu543Phe, XP_047273698.1:p.Leu543Ile

                                16.

                                rs1467419550 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  5:94870960 (GRCh38)
                                  5:94206665 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:94870959:T:G
                                  Gene:
                                  MCTP1 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000011/3 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000005.10:g.94870960T>G, NC_000005.9:g.94206665T>G, NM_024717.7:c.2153A>C, NM_024717.6:c.2153A>C, NM_024717.5:c.2153A>C, NM_024717.4:c.2153A>C, XM_005272082.6:c.1535A>C, XM_005272082.5:c.1535A>C, XM_005272082.4:c.1535A>C, XM_005272082.3:c.1535A>C, XM_005272082.2:c.1535A>C, XM_005272082.1:c.1535A>C, NM_001002796.5:c.1490A>C, NM_001002796.4:c.1490A>C, NM_001002796.3:c.1490A>C, NM_001002796.2:c.1490A>C, XM_011543649.4:c.1376A>C, XM_011543649.3:c.1376A>C, XM_011543649.2:c.1376A>C, XM_011543649.1:c.1376A>C, XM_017009855.3:c.2114A>C, XM_017009855.2:c.1337A>C, XM_017009855.1:c.1337A>C, XM_017009858.3:c.2036A>C, XM_017009858.2:c.1259A>C, XM_017009858.1:c.1259A>C, XM_011543650.3:c.1136A>C, XM_011543650.2:c.1136A>C, XM_011543650.1:c.1136A>C, NM_001297777.3:c.1352A>C, NM_001297777.2:c.1352A>C, NM_001297777.1:c.1352A>C, XM_017009859.2:c.2153A>C, XM_017009859.1:c.1376A>C, NM_001393535.1:c.2075A>C, NM_001393536.1:c.2015A>C, NM_001393537.1:c.1976A>C, XM_047417714.1:c.2075A>C, XM_047417715.1:c.2036A>C, XM_047417716.1:c.2015A>C, XM_047417718.1:c.1976A>C, XM_047417724.1:c.1457A>C, XM_047417725.1:c.1451A>C, NM_001393539.1:c.1412A>C, XM_047417727.1:c.1397A>C, XM_047417728.1:c.1373A>C, NM_001393540.1:c.1490A>C, NM_001393541.1:c.1358A>C, NM_001393542.1:c.1352A>C, XM_047417730.1:c.1451A>C, NM_001393544.1:c.1313A>C, NM_001393545.1:c.1307A>C, XM_047417732.1:c.1412A>C, XM_047417734.1:c.1397A>C, NM_001393546.1:c.1391A>C, NM_001393547.1:c.1373A>C, XM_047417737.1:c.1313A>C, NM_001393548.1:c.1352A>C, XM_047417711.1:c.2153A>C, XM_047417712.1:c.2153A>C, XM_047417713.1:c.2015A>C, XM_047417719.1:c.2153A>C, NM_001393538.1:c.1490A>C, XM_047417726.1:c.1412A>C, XM_047417729.1:c.1373A>C, NM_001393543.1:c.1352A>C, XM_047417731.1:c.1313A>C, XM_047417733.1:c.1412A>C, XM_047417735.1:c.1373A>C, XM_047417736.1:c.1352A>C, XM_047417738.1:c.1313A>C, XM_047417723.1:c.2153A>C, XM_047417717.1:c.2153A>C, XM_047417739.1:c.1490A>C, XM_047417720.1:c.2153A>C, XM_047417722.1:c.2153A>C, XM_047417741.1:c.1412A>C, NM_001393549.1:c.1490A>C, XM_047417742.1:c.1313A>C, NP_078993.4:p.Glu718Ala, XP_005272139.1:p.Glu512Ala, NP_001002796.1:p.Glu497Ala, XP_011541951.1:p.Glu459Ala, XP_016865344.2:p.Glu705Ala, XP_016865347.2:p.Glu679Ala, XP_011541952.1:p.Glu379Ala, NP_001284706.1:p.Glu451Ala, XP_016865348.2:p.Glu718Ala, NP_001380464.1:p.Glu692Ala, NP_001380465.1:p.Glu672Ala, NP_001380466.1:p.Glu659Ala, XP_047273670.1:p.Glu692Ala, XP_047273671.1:p.Glu679Ala, XP_047273672.1:p.Glu672Ala, XP_047273674.1:p.Glu659Ala, XP_047273680.1:p.Glu486Ala, XP_047273681.1:p.Glu484Ala, NP_001380468.1:p.Glu471Ala, XP_047273683.1:p.Glu466Ala, XP_047273684.1:p.Glu458Ala, NP_001380469.1:p.Glu497Ala, NP_001380470.1:p.Glu453Ala, NP_001380471.1:p.Glu451Ala, XP_047273686.1:p.Glu484Ala, NP_001380473.1:p.Glu438Ala, NP_001380474.1:p.Glu436Ala, XP_047273688.1:p.Glu471Ala, XP_047273690.1:p.Glu466Ala, NP_001380475.1:p.Glu464Ala, NP_001380476.1:p.Glu458Ala, XP_047273693.1:p.Glu438Ala, NP_001380477.1:p.Glu451Ala, XP_047273667.1:p.Glu718Ala, XP_047273668.1:p.Glu718Ala, XP_047273669.1:p.Glu672Ala, XP_047273675.1:p.Glu718Ala, NP_001380467.1:p.Glu497Ala, XP_047273682.1:p.Glu471Ala, XP_047273685.1:p.Glu458Ala, NP_001380472.1:p.Glu451Ala, XP_047273687.1:p.Glu438Ala, XP_047273689.1:p.Glu471Ala, XP_047273691.1:p.Glu458Ala, XP_047273692.1:p.Glu451Ala, XP_047273694.1:p.Glu438Ala, XP_047273679.1:p.Glu718Ala, XP_047273673.1:p.Glu718Ala, XP_047273695.1:p.Glu497Ala, XP_047273676.1:p.Glu718Ala, XP_047273678.1:p.Glu718Ala, XP_047273697.1:p.Glu471Ala, NP_001380478.1:p.Glu497Ala, XP_047273698.1:p.Glu438Ala

                                  17.

                                  rs1464383694 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    5:94909253 (GRCh38)
                                    5:94244958 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:94909252:G:C,NC_000005.10:94909252:G:T
                                    Gene:
                                    MCTP1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000008/2 (TOPMED)
                                    T=0.000071/1 (TOMMO)
                                    HGVS:
                                    NC_000005.10:g.94909253G>C, NC_000005.10:g.94909253G>T, NC_000005.9:g.94244958G>C, NC_000005.9:g.94244958G>T, NM_024717.7:c.1650C>G, NM_024717.7:c.1650C>A, NM_024717.6:c.1650C>G, NM_024717.6:c.1650C>A, NM_024717.5:c.1650C>G, NM_024717.5:c.1650C>A, NM_024717.4:c.1650C>G, NM_024717.4:c.1650C>A, XM_005272082.6:c.1032C>G, XM_005272082.6:c.1032C>A, XM_005272082.5:c.1032C>G, XM_005272082.5:c.1032C>A, XM_005272082.4:c.1032C>G, XM_005272082.4:c.1032C>A, XM_005272082.3:c.1032C>G, XM_005272082.3:c.1032C>A, XM_005272082.2:c.1032C>G, XM_005272082.2:c.1032C>A, XM_005272082.1:c.1032C>G, XM_005272082.1:c.1032C>A, NM_001002796.5:c.987C>G, NM_001002796.5:c.987C>A, NM_001002796.4:c.987C>G, NM_001002796.4:c.987C>A, NM_001002796.3:c.987C>G, NM_001002796.3:c.987C>A, NM_001002796.2:c.987C>G, NM_001002796.2:c.987C>A, XM_011543649.4:c.873C>G, XM_011543649.4:c.873C>A, XM_011543649.3:c.873C>G, XM_011543649.3:c.873C>A, XM_011543649.2:c.873C>G, XM_011543649.2:c.873C>A, XM_011543649.1:c.873C>G, XM_011543649.1:c.873C>A, XM_017009855.3:c.1611C>G, XM_017009855.3:c.1611C>A, XM_017009855.2:c.834C>G, XM_017009855.2:c.834C>A, XM_017009855.1:c.834C>G, XM_017009855.1:c.834C>A, XM_017009858.3:c.1533C>G, XM_017009858.3:c.1533C>A, XM_017009858.2:c.756C>G, XM_017009858.2:c.756C>A, XM_017009858.1:c.756C>G, XM_017009858.1:c.756C>A, XM_011543650.3:c.633C>G, XM_011543650.3:c.633C>A, XM_011543650.2:c.633C>G, XM_011543650.2:c.633C>A, XM_011543650.1:c.633C>G, XM_011543650.1:c.633C>A, NM_001297777.3:c.849C>G, NM_001297777.3:c.849C>A, NM_001297777.2:c.849C>G, NM_001297777.2:c.849C>A, NM_001297777.1:c.849C>G, NM_001297777.1:c.849C>A, XM_017009859.2:c.1650C>G, XM_017009859.2:c.1650C>A, XM_017009859.1:c.873C>G, XM_017009859.1:c.873C>A, NM_001393535.1:c.1572C>G, NM_001393535.1:c.1572C>A, NM_001393536.1:c.1512C>G, NM_001393536.1:c.1512C>A, NM_001393537.1:c.1473C>G, NM_001393537.1:c.1473C>A, XM_047417714.1:c.1572C>G, XM_047417714.1:c.1572C>A, XM_047417715.1:c.1533C>G, XM_047417715.1:c.1533C>A, XM_047417716.1:c.1512C>G, XM_047417716.1:c.1512C>A, XM_047417718.1:c.1473C>G, XM_047417718.1:c.1473C>A, XM_047417724.1:c.954C>G, XM_047417724.1:c.954C>A, XM_047417725.1:c.948C>G, XM_047417725.1:c.948C>A, NM_001393539.1:c.909C>G, NM_001393539.1:c.909C>A, XM_047417727.1:c.894C>G, XM_047417727.1:c.894C>A, XM_047417728.1:c.870C>G, XM_047417728.1:c.870C>A, NM_001393540.1:c.987C>G, NM_001393540.1:c.987C>A, NM_001393541.1:c.855C>G, NM_001393541.1:c.855C>A, NM_001393542.1:c.849C>G, NM_001393542.1:c.849C>A, XM_047417730.1:c.948C>G, XM_047417730.1:c.948C>A, NM_001393544.1:c.810C>G, NM_001393544.1:c.810C>A, NM_001393545.1:c.804C>G, NM_001393545.1:c.804C>A, XM_047417732.1:c.909C>G, XM_047417732.1:c.909C>A, XM_047417734.1:c.894C>G, XM_047417734.1:c.894C>A, NM_001393546.1:c.888C>G, NM_001393546.1:c.888C>A, NM_001393547.1:c.870C>G, NM_001393547.1:c.870C>A, XM_047417737.1:c.810C>G, XM_047417737.1:c.810C>A, NM_001393548.1:c.849C>G, NM_001393548.1:c.849C>A, XM_047417711.1:c.1650C>G, XM_047417711.1:c.1650C>A, XM_047417712.1:c.1650C>G, XM_047417712.1:c.1650C>A, XM_047417713.1:c.1512C>G, XM_047417713.1:c.1512C>A, XM_047417719.1:c.1650C>G, XM_047417719.1:c.1650C>A, NM_001393538.1:c.987C>G, NM_001393538.1:c.987C>A, XM_047417726.1:c.909C>G, XM_047417726.1:c.909C>A, XM_047417729.1:c.870C>G, XM_047417729.1:c.870C>A, NM_001393543.1:c.849C>G, NM_001393543.1:c.849C>A, XM_047417731.1:c.810C>G, XM_047417731.1:c.810C>A, XM_047417733.1:c.909C>G, XM_047417733.1:c.909C>A, XM_047417735.1:c.870C>G, XM_047417735.1:c.870C>A, XM_047417736.1:c.849C>G, XM_047417736.1:c.849C>A, XM_047417738.1:c.810C>G, XM_047417738.1:c.810C>A, XM_047417723.1:c.1650C>G, XM_047417723.1:c.1650C>A, XM_047417717.1:c.1650C>G, XM_047417717.1:c.1650C>A, XM_047417739.1:c.987C>G, XM_047417739.1:c.987C>A, XM_047417720.1:c.1650C>G, XM_047417720.1:c.1650C>A, XM_047417722.1:c.1650C>G, XM_047417722.1:c.1650C>A, XM_047417741.1:c.909C>G, XM_047417741.1:c.909C>A, NM_001393549.1:c.987C>G, NM_001393549.1:c.987C>A, XM_047417742.1:c.810C>G, XM_047417742.1:c.810C>A, NM_001393550.1:c.849C>G, NM_001393550.1:c.849C>A

                                    18.

                                    rs1462840405 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      5:94894715 (GRCh38)
                                      5:94230420 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:94894714:G:A
                                      Gene:
                                      MCTP1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000005.10:g.94894715G>A, NC_000005.9:g.94230420G>A, NM_024717.7:c.1773C>T, NM_024717.6:c.1773C>T, NM_024717.5:c.1773C>T, NM_024717.4:c.1773C>T, XM_005272082.6:c.1155C>T, XM_005272082.5:c.1155C>T, XM_005272082.4:c.1155C>T, XM_005272082.3:c.1155C>T, XM_005272082.2:c.1155C>T, XM_005272082.1:c.1155C>T, NM_001002796.5:c.1110C>T, NM_001002796.4:c.1110C>T, NM_001002796.3:c.1110C>T, NM_001002796.2:c.1110C>T, XM_011543649.4:c.996C>T, XM_011543649.3:c.996C>T, XM_011543649.2:c.996C>T, XM_011543649.1:c.996C>T, XM_017009855.3:c.1734C>T, XM_017009855.2:c.957C>T, XM_017009855.1:c.957C>T, XM_017009858.3:c.1656C>T, XM_017009858.2:c.879C>T, XM_017009858.1:c.879C>T, XM_011543650.3:c.756C>T, XM_011543650.2:c.756C>T, XM_011543650.1:c.756C>T, NM_001297777.3:c.972C>T, NM_001297777.2:c.972C>T, NM_001297777.1:c.972C>T, XM_017009859.2:c.1773C>T, XM_017009859.1:c.996C>T, NM_001393535.1:c.1695C>T, NM_001393536.1:c.1635C>T, NM_001393537.1:c.1596C>T, XM_047417714.1:c.1695C>T, XM_047417715.1:c.1656C>T, XM_047417716.1:c.1635C>T, XM_047417718.1:c.1596C>T, XM_047417724.1:c.1077C>T, XM_047417725.1:c.1071C>T, NM_001393539.1:c.1032C>T, XM_047417727.1:c.1017C>T, XM_047417728.1:c.993C>T, NM_001393540.1:c.1110C>T, NM_001393541.1:c.978C>T, NM_001393542.1:c.972C>T, XM_047417730.1:c.1071C>T, NM_001393544.1:c.933C>T, NM_001393545.1:c.927C>T, XM_047417732.1:c.1032C>T, XM_047417734.1:c.1017C>T, NM_001393546.1:c.1011C>T, NM_001393547.1:c.993C>T, XM_047417737.1:c.933C>T, NM_001393548.1:c.972C>T, XM_047417711.1:c.1773C>T, XM_047417712.1:c.1773C>T, XM_047417713.1:c.1635C>T, XM_047417719.1:c.1773C>T, NM_001393538.1:c.1110C>T, XM_047417726.1:c.1032C>T, XM_047417729.1:c.993C>T, NM_001393543.1:c.972C>T, XM_047417731.1:c.933C>T, XM_047417733.1:c.1032C>T, XM_047417735.1:c.993C>T, XM_047417736.1:c.972C>T, XM_047417738.1:c.933C>T, XM_047417723.1:c.1773C>T, XM_047417717.1:c.1773C>T, XM_047417739.1:c.1110C>T, XM_047417720.1:c.1773C>T, XM_047417722.1:c.1773C>T, XM_047417741.1:c.1032C>T, NM_001393549.1:c.1110C>T, XM_047417742.1:c.933C>T, NM_001393550.1:c.972C>T

                                      19.

                                      rs1462731222 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        5:94870910 (GRCh38)
                                        5:94206615 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:94870909:C:T
                                        Gene:
                                        MCTP1 (Varview)
                                        Functional Consequence:
                                        missense_variant,intron_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000005.10:g.94870910C>T, NC_000005.9:g.94206615C>T, NM_024717.7:c.2203G>A, NM_024717.6:c.2203G>A, NM_024717.5:c.2203G>A, NM_024717.4:c.2203G>A, XM_005272082.6:c.1585G>A, XM_005272082.5:c.1585G>A, XM_005272082.4:c.1585G>A, XM_005272082.3:c.1585G>A, XM_005272082.2:c.1585G>A, XM_005272082.1:c.1585G>A, NM_001002796.5:c.1540G>A, NM_001002796.4:c.1540G>A, NM_001002796.3:c.1540G>A, NM_001002796.2:c.1540G>A, XM_011543649.4:c.1426G>A, XM_011543649.3:c.1426G>A, XM_011543649.2:c.1426G>A, XM_011543649.1:c.1426G>A, XM_017009855.3:c.2164G>A, XM_017009855.2:c.1387G>A, XM_017009855.1:c.1387G>A, XM_017009858.3:c.2086G>A, XM_017009858.2:c.1309G>A, XM_017009858.1:c.1309G>A, XM_011543650.3:c.1186G>A, XM_011543650.2:c.1186G>A, XM_011543650.1:c.1186G>A, NM_001297777.3:c.1402G>A, NM_001297777.2:c.1402G>A, NM_001297777.1:c.1402G>A, XM_017009859.2:c.2203G>A, XM_017009859.1:c.1426G>A, NM_001393535.1:c.2125G>A, NM_001393536.1:c.2065G>A, NM_001393537.1:c.2026G>A, XM_047417714.1:c.2125G>A, XM_047417715.1:c.2086G>A, XM_047417716.1:c.2065G>A, XM_047417718.1:c.2026G>A, XM_047417724.1:c.1507G>A, XM_047417725.1:c.1501G>A, NM_001393539.1:c.1462G>A, XM_047417727.1:c.1447G>A, XM_047417728.1:c.1423G>A, NM_001393540.1:c.1540G>A, NM_001393541.1:c.1408G>A, NM_001393542.1:c.1402G>A, XM_047417730.1:c.1501G>A, NM_001393544.1:c.1363G>A, NM_001393545.1:c.1357G>A, XM_047417732.1:c.1462G>A, XM_047417734.1:c.1447G>A, NM_001393546.1:c.1441G>A, NM_001393547.1:c.1423G>A, XM_047417737.1:c.1363G>A, NM_001393548.1:c.1402G>A, XM_047417711.1:c.2203G>A, XM_047417712.1:c.2203G>A, XM_047417713.1:c.2065G>A, XM_047417719.1:c.2203G>A, NM_001393538.1:c.1540G>A, XM_047417726.1:c.1462G>A, XM_047417729.1:c.1423G>A, NM_001393543.1:c.1402G>A, XM_047417731.1:c.1363G>A, XM_047417733.1:c.1462G>A, XM_047417735.1:c.1423G>A, XM_047417736.1:c.1402G>A, XM_047417738.1:c.1363G>A, XM_047417723.1:c.2203G>A, XM_047417717.1:c.2203G>A, XM_047417739.1:c.1540G>A, XM_047417720.1:c.2203G>A, XM_047417722.1:c.2203G>A, XM_047417741.1:c.1462G>A, NM_001393549.1:c.1540G>A, XM_047417742.1:c.1363G>A, NP_078993.4:p.Gly735Arg, XP_005272139.1:p.Gly529Arg, NP_001002796.1:p.Gly514Arg, XP_011541951.1:p.Gly476Arg, XP_016865344.2:p.Gly722Arg, XP_016865347.2:p.Gly696Arg, XP_011541952.1:p.Gly396Arg, NP_001284706.1:p.Gly468Arg, XP_016865348.2:p.Gly735Arg, NP_001380464.1:p.Gly709Arg, NP_001380465.1:p.Gly689Arg, NP_001380466.1:p.Gly676Arg, XP_047273670.1:p.Gly709Arg, XP_047273671.1:p.Gly696Arg, XP_047273672.1:p.Gly689Arg, XP_047273674.1:p.Gly676Arg, XP_047273680.1:p.Gly503Arg, XP_047273681.1:p.Gly501Arg, NP_001380468.1:p.Gly488Arg, XP_047273683.1:p.Gly483Arg, XP_047273684.1:p.Gly475Arg, NP_001380469.1:p.Gly514Arg, NP_001380470.1:p.Gly470Arg, NP_001380471.1:p.Gly468Arg, XP_047273686.1:p.Gly501Arg, NP_001380473.1:p.Gly455Arg, NP_001380474.1:p.Gly453Arg, XP_047273688.1:p.Gly488Arg, XP_047273690.1:p.Gly483Arg, NP_001380475.1:p.Gly481Arg, NP_001380476.1:p.Gly475Arg, XP_047273693.1:p.Gly455Arg, NP_001380477.1:p.Gly468Arg, XP_047273667.1:p.Gly735Arg, XP_047273668.1:p.Gly735Arg, XP_047273669.1:p.Gly689Arg, XP_047273675.1:p.Gly735Arg, NP_001380467.1:p.Gly514Arg, XP_047273682.1:p.Gly488Arg, XP_047273685.1:p.Gly475Arg, NP_001380472.1:p.Gly468Arg, XP_047273687.1:p.Gly455Arg, XP_047273689.1:p.Gly488Arg, XP_047273691.1:p.Gly475Arg, XP_047273692.1:p.Gly468Arg, XP_047273694.1:p.Gly455Arg, XP_047273679.1:p.Gly735Arg, XP_047273673.1:p.Gly735Arg, XP_047273695.1:p.Gly514Arg, XP_047273676.1:p.Gly735Arg, XP_047273678.1:p.Gly735Arg, XP_047273697.1:p.Gly488Arg, NP_001380478.1:p.Gly514Arg, XP_047273698.1:p.Gly455Arg

                                        20.

                                        rs1459581882 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          5:94779160 (GRCh38)
                                          5:94114865 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:94779159:C:T
                                          Gene:
                                          MCTP1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000005.10:g.94779160C>T, NC_000005.9:g.94114865C>T, NM_024717.7:c.2560G>A, NM_024717.6:c.2560G>A, NM_024717.5:c.2560G>A, NM_024717.4:c.2560G>A, XM_005272082.6:c.1942G>A, XM_005272082.5:c.1942G>A, XM_005272082.4:c.1942G>A, XM_005272082.3:c.1942G>A, XM_005272082.2:c.1942G>A, XM_005272082.1:c.1942G>A, NM_001002796.5:c.1897G>A, NM_001002796.4:c.1897G>A, NM_001002796.3:c.1897G>A, NM_001002796.2:c.1897G>A, XM_011543649.4:c.1783G>A, XM_011543649.3:c.1783G>A, XM_011543649.2:c.1783G>A, XM_011543649.1:c.1783G>A, XM_017009855.3:c.2521G>A, XM_017009855.2:c.1744G>A, XM_017009855.1:c.1744G>A, XM_017009858.3:c.2443G>A, XM_017009858.2:c.1666G>A, XM_017009858.1:c.1666G>A, XM_011543650.3:c.1543G>A, XM_011543650.2:c.1543G>A, XM_011543650.1:c.1543G>A, NM_001297777.3:c.1639G>A, NM_001297777.2:c.1639G>A, NM_001297777.1:c.1639G>A, XM_017009859.2:c.2440G>A, XM_017009859.1:c.1663G>A, NM_001393535.1:c.2482G>A, NM_001393536.1:c.2422G>A, NM_001393537.1:c.2383G>A, XM_047417714.1:c.2362G>A, XM_047417715.1:c.2323G>A, XM_047417716.1:c.2302G>A, XM_047417718.1:c.2263G>A, XM_047417724.1:c.1864G>A, XM_047417725.1:c.1858G>A, NM_001393539.1:c.1819G>A, XM_047417727.1:c.1804G>A, XM_047417728.1:c.1780G>A, NM_001393540.1:c.1777G>A, NM_001393541.1:c.1765G>A, NM_001393542.1:c.1759G>A, XM_047417730.1:c.1738G>A, NM_001393544.1:c.1720G>A, NM_001393545.1:c.1714G>A, XM_047417732.1:c.1699G>A, XM_047417734.1:c.1684G>A, NM_001393546.1:c.1678G>A, NM_001393547.1:c.1660G>A, XM_047417737.1:c.1600G>A, NM_001393548.1:c.1639G>A, XM_047417711.1:c.2560G>A, NM_001393551.1:c.514G>A, XM_047417712.1:c.2440G>A, XM_047417713.1:c.2422G>A, XM_047417719.1:c.2560G>A, NM_001393538.1:c.1897G>A, XM_047417726.1:c.1819G>A, XM_047417729.1:c.1780G>A, NM_001393543.1:c.1759G>A, XM_047417731.1:c.1720G>A, XM_047417733.1:c.1699G>A, XM_047417735.1:c.1660G>A, XM_047417736.1:c.1639G>A, XM_047417738.1:c.1600G>A, XM_047417717.1:c.2560G>A, XM_047417739.1:c.1897G>A, XM_047417720.1:c.2440G>A, XM_047417741.1:c.1819G>A, XM_047417742.1:c.1720G>A, NP_078993.4:p.Val854Met, XP_005272139.1:p.Val648Met, NP_001002796.1:p.Val633Met, XP_011541951.1:p.Val595Met, XP_016865344.2:p.Val841Met, XP_016865347.2:p.Val815Met, XP_011541952.1:p.Val515Met, NP_001284706.1:p.Val547Met, XP_016865348.2:p.Val814Met, NP_001380464.1:p.Val828Met, NP_001380465.1:p.Val808Met, NP_001380466.1:p.Val795Met, XP_047273670.1:p.Val788Met, XP_047273671.1:p.Val775Met, XP_047273672.1:p.Val768Met, XP_047273674.1:p.Val755Met, XP_047273680.1:p.Val622Met, XP_047273681.1:p.Val620Met, NP_001380468.1:p.Val607Met, XP_047273683.1:p.Val602Met, XP_047273684.1:p.Val594Met, NP_001380469.1:p.Val593Met, NP_001380470.1:p.Val589Met, NP_001380471.1:p.Val587Met, XP_047273686.1:p.Val580Met, NP_001380473.1:p.Val574Met, NP_001380474.1:p.Val572Met, XP_047273688.1:p.Val567Met, XP_047273690.1:p.Val562Met, NP_001380475.1:p.Val560Met, NP_001380476.1:p.Val554Met, XP_047273693.1:p.Val534Met, NP_001380477.1:p.Val547Met, XP_047273667.1:p.Val854Met, NP_001380480.1:p.Val172Met, XP_047273668.1:p.Val814Met, XP_047273669.1:p.Val808Met, XP_047273675.1:p.Val854Met, NP_001380467.1:p.Val633Met, XP_047273682.1:p.Val607Met, XP_047273685.1:p.Val594Met, NP_001380472.1:p.Val587Met, XP_047273687.1:p.Val574Met, XP_047273689.1:p.Val567Met, XP_047273691.1:p.Val554Met, XP_047273692.1:p.Val547Met, XP_047273694.1:p.Val534Met, XP_047273673.1:p.Val854Met, XP_047273695.1:p.Val633Met, XP_047273676.1:p.Val814Met, XP_047273697.1:p.Val607Met, XP_047273698.1:p.Val574Met

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