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Items: 1 to 20 of 1198

1.

rs1490717599 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    7:5992049 (GRCh38)
    7:6031680 (GRCh37)
    Canonical SPDI:
    NC_000007.14:5992048:T:A,NC_000007.14:5992048:T:C
    Gene:
    PMS2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000111/1 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.5992049T>A, NC_000007.14:g.5992049T>C, NC_000007.13:g.6031680T>A, NC_000007.13:g.6031680T>C, NG_008466.1:g.22058A>T, NG_008466.1:g.22058A>G, NM_000535.7:c.912A>T, NM_000535.7:c.912A>G, NM_000535.6:c.912A>T, NM_000535.6:c.912A>G, NM_000535.5:c.912A>T, NM_000535.5:c.912A>G, NM_001322009.2:c.507A>T, NM_001322009.2:c.507A>G, NM_001322009.1:c.507A>T, NM_001322009.1:c.507A>G, NM_001322005.2:c.507A>T, NM_001322005.2:c.507A>G, NM_001322005.1:c.507A>T, NM_001322005.1:c.507A>G, NM_001322015.2:c.603A>T, NM_001322015.2:c.603A>G, NM_001322015.1:c.603A>T, NM_001322015.1:c.603A>G, NM_001322014.2:c.912A>T, NM_001322014.2:c.912A>G, NM_001322014.1:c.912A>T, NM_001322014.1:c.912A>G, NM_001322003.2:c.507A>T, NM_001322003.2:c.507A>G, NM_001322003.1:c.507A>T, NM_001322003.1:c.507A>G, NM_001322011.2:c.-22A>T, NM_001322011.2:c.-22A>G, NM_001322011.1:c.-22A>T, NM_001322011.1:c.-22A>G, NM_001322012.2:c.-22A>T, NM_001322012.2:c.-22A>G, NM_001322012.1:c.-22A>T, NM_001322012.1:c.-22A>G, NM_001322007.2:c.594A>T, NM_001322007.2:c.594A>G, NM_001322007.1:c.594A>T, NM_001322007.1:c.594A>G, NM_001322004.2:c.507A>T, NM_001322004.2:c.507A>G, NM_001322004.1:c.507A>T, NM_001322004.1:c.507A>G, NM_001322006.2:c.912A>T, NM_001322006.2:c.912A>G, NM_001322006.1:c.912A>T, NM_001322006.1:c.912A>G, NM_001322013.2:c.339A>T, NM_001322013.2:c.339A>G, NM_001322013.1:c.339A>T, NM_001322013.1:c.339A>G, NM_001322008.2:c.594A>T, NM_001322008.2:c.594A>G, NM_001322008.1:c.594A>T, NM_001322008.1:c.594A>G, NM_001322010.2:c.507A>T, NM_001322010.2:c.507A>G, NM_001322010.1:c.507A>T, NM_001322010.1:c.507A>G, NM_001406877.1:c.603A>T, NM_001406877.1:c.603A>G, NM_001406875.1:c.603A>T, NM_001406875.1:c.603A>G, NM_001406882.1:c.603A>T, NM_001406882.1:c.603A>G, NM_001406893.1:c.507A>T, NM_001406893.1:c.507A>G, NM_001406866.1:c.1098A>T, NM_001406866.1:c.1098A>G, NM_001406897.1:c.507A>T, NM_001406897.1:c.507A>G, NM_001406878.1:c.603A>T, NM_001406878.1:c.603A>G, NM_001406898.1:c.507A>T, NM_001406898.1:c.507A>G, NM_001406891.1:c.507A>T, NM_001406891.1:c.507A>G, NM_001406894.1:c.507A>T, NM_001406894.1:c.507A>G, NM_001406899.1:c.507A>T, NM_001406899.1:c.507A>G, NM_001406880.1:c.603A>T, NM_001406880.1:c.603A>G, NM_001406879.1:c.603A>T, NM_001406879.1:c.603A>G, NM_001406887.1:c.507A>T, NM_001406887.1:c.507A>G, NM_001406868.1:c.936A>T, NM_001406868.1:c.936A>G, NR_136154.1:n.999A>T, NR_136154.1:n.999A>G, NM_001406890.1:c.507A>T, NM_001406890.1:c.507A>G, NM_001406888.1:c.507A>T, NM_001406888.1:c.507A>G, NM_001406892.1:c.507A>T, NM_001406892.1:c.507A>G, NM_001406889.1:c.507A>T, NM_001406889.1:c.507A>G, NM_001406881.1:c.603A>T, NM_001406881.1:c.603A>G, NM_001406876.1:c.594A>T, NM_001406876.1:c.594A>G, NM_001406900.1:c.603A>T, NM_001406900.1:c.603A>G, NM_001406883.1:c.594A>T, NM_001406883.1:c.594A>G, NM_001406869.1:c.804A>T, NM_001406869.1:c.804A>G, NM_001406905.1:c.399A>T, NM_001406905.1:c.399A>G, NM_001406870.1:c.912A>T, NM_001406870.1:c.912A>G, NM_001406871.1:c.912A>T, NM_001406871.1:c.912A>G, NM_001406906.1:c.507A>T, NM_001406906.1:c.507A>G, NM_001406904.1:c.399A>T, NM_001406904.1:c.399A>G, NM_001406874.1:c.744A>T, NM_001406874.1:c.744A>G, NM_001406872.1:c.912A>T, NM_001406872.1:c.912A>G, NM_001406908.1:c.507A>T, NM_001406908.1:c.507A>G, NM_001406896.1:c.507A>T, NM_001406896.1:c.507A>G, NM_001406895.1:c.507A>T, NM_001406895.1:c.507A>G, NM_001406873.1:c.714A>T, NM_001406873.1:c.714A>G, NM_001406907.1:c.507A>T, NM_001406907.1:c.507A>G, NM_001406909.1:c.339A>T, NM_001406909.1:c.339A>G, NM_001406901.1:c.594A>T, NM_001406901.1:c.594A>G, NM_001406902.1:c.594A>T, NM_001406902.1:c.594A>G, NM_001406903.1:c.594A>T, NM_001406903.1:c.594A>G, NM_001406910.1:c.507A>T, NM_001406910.1:c.507A>G, NM_001406884.1:c.744A>T, NM_001406884.1:c.744A>G, NM_001406885.1:c.576A>T, NM_001406885.1:c.576A>G, NM_001406886.1:c.546A>T, NM_001406886.1:c.546A>G, NM_001406911.1:c.141A>T, NM_001406911.1:c.141A>G, XM_024446800.2:c.507A>T, XM_024446800.2:c.507A>G, NR_003085.2:n.994A>T, NR_003085.2:n.994A>G, XM_047420482.1:c.957A>T, XM_047420482.1:c.957A>G, XM_047420483.1:c.906A>T, XM_047420483.1:c.906A>G, XM_047420484.1:c.957A>T, XM_047420484.1:c.957A>G, XM_047420485.1:c.594A>T, XM_047420485.1:c.594A>G, XM_047420486.1:c.-22A>T, XM_047420486.1:c.-22A>G, NM_001018040.1:c.507A>T, NM_001018040.1:c.507A>G, NP_000526.2:p.Arg304Ser, NP_001308938.1:p.Arg169Ser, NP_001308934.1:p.Arg169Ser, NP_001308944.1:p.Arg201Ser, NP_001308943.1:p.Arg304Ser, NP_001308932.1:p.Arg169Ser, NP_001308936.1:p.Arg198Ser, NP_001308933.1:p.Arg169Ser, NP_001308935.1:p.Arg304Ser, NP_001308942.1:p.Arg113Ser, NP_001308937.1:p.Arg198Ser, NP_001308939.1:p.Arg169Ser, XP_024302568.1:p.Arg169Ser, XP_047276438.1:p.Arg319Ser, XP_047276439.1:p.Arg302Ser, XP_047276440.1:p.Arg319Ser, XP_047276441.1:p.Arg198Ser

    2.

    rs1490598044 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G,T [Show Flanks]
      Chromosome:
      7:5987410 (GRCh38)
      7:6027041 (GRCh37)
      Canonical SPDI:
      NC_000007.14:5987409:C:A,NC_000007.14:5987409:C:G,NC_000007.14:5987409:C:T
      Gene:
      PMS2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000007.14:g.5987410C>A, NC_000007.14:g.5987410C>G, NC_000007.14:g.5987410C>T, NC_000007.13:g.6027041C>A, NC_000007.13:g.6027041C>G, NC_000007.13:g.6027041C>T, NG_008466.1:g.26697G>T, NG_008466.1:g.26697G>C, NG_008466.1:g.26697G>A, NM_000535.7:c.1355G>T, NM_000535.7:c.1355G>C, NM_000535.7:c.1355G>A, NM_000535.6:c.1355G>T, NM_000535.6:c.1355G>C, NM_000535.6:c.1355G>A, NM_000535.5:c.1355G>T, NM_000535.5:c.1355G>C, NM_000535.5:c.1355G>A, NM_001322009.2:c.950G>T, NM_001322009.2:c.950G>C, NM_001322009.2:c.950G>A, NM_001322009.1:c.950G>T, NM_001322009.1:c.950G>C, NM_001322009.1:c.950G>A, NM_001322005.2:c.950G>T, NM_001322005.2:c.950G>C, NM_001322005.2:c.950G>A, NM_001322005.1:c.950G>T, NM_001322005.1:c.950G>C, NM_001322005.1:c.950G>A, NM_001322015.2:c.1046G>T, NM_001322015.2:c.1046G>C, NM_001322015.2:c.1046G>A, NM_001322015.1:c.1046G>T, NM_001322015.1:c.1046G>C, NM_001322015.1:c.1046G>A, NM_001322014.2:c.1355G>T, NM_001322014.2:c.1355G>C, NM_001322014.2:c.1355G>A, NM_001322014.1:c.1355G>T, NM_001322014.1:c.1355G>C, NM_001322014.1:c.1355G>A, NM_001322003.2:c.950G>T, NM_001322003.2:c.950G>C, NM_001322003.2:c.950G>A, NM_001322003.1:c.950G>T, NM_001322003.1:c.950G>C, NM_001322003.1:c.950G>A, NM_001322011.2:c.422G>T, NM_001322011.2:c.422G>C, NM_001322011.2:c.422G>A, NM_001322011.1:c.422G>T, NM_001322011.1:c.422G>C, NM_001322011.1:c.422G>A, NM_001322012.2:c.422G>T, NM_001322012.2:c.422G>C, NM_001322012.2:c.422G>A, NM_001322012.1:c.422G>T, NM_001322012.1:c.422G>C, NM_001322012.1:c.422G>A, NM_001322007.2:c.1037G>T, NM_001322007.2:c.1037G>C, NM_001322007.2:c.1037G>A, NM_001322007.1:c.1037G>T, NM_001322007.1:c.1037G>C, NM_001322007.1:c.1037G>A, NM_001322004.2:c.950G>T, NM_001322004.2:c.950G>C, NM_001322004.2:c.950G>A, NM_001322004.1:c.950G>T, NM_001322004.1:c.950G>C, NM_001322004.1:c.950G>A, NM_001322006.2:c.1199G>T, NM_001322006.2:c.1199G>C, NM_001322006.2:c.1199G>A, NM_001322006.1:c.1199G>T, NM_001322006.1:c.1199G>C, NM_001322006.1:c.1199G>A, NM_001322013.2:c.782G>T, NM_001322013.2:c.782G>C, NM_001322013.2:c.782G>A, NM_001322013.1:c.782G>T, NM_001322013.1:c.782G>C, NM_001322013.1:c.782G>A, NM_001322008.2:c.1037G>T, NM_001322008.2:c.1037G>C, NM_001322008.2:c.1037G>A, NM_001322008.1:c.1037G>T, NM_001322008.1:c.1037G>C, NM_001322008.1:c.1037G>A, NM_001322010.2:c.794G>T, NM_001322010.2:c.794G>C, NM_001322010.2:c.794G>A, NM_001322010.1:c.794G>T, NM_001322010.1:c.794G>C, NM_001322010.1:c.794G>A, NM_001406877.1:c.1046G>T, NM_001406877.1:c.1046G>C, NM_001406877.1:c.1046G>A, NM_001406875.1:c.1046G>T, NM_001406875.1:c.1046G>C, NM_001406875.1:c.1046G>A, NM_001406882.1:c.1046G>T, NM_001406882.1:c.1046G>C, NM_001406882.1:c.1046G>A, NM_001406893.1:c.950G>T, NM_001406893.1:c.950G>C, NM_001406893.1:c.950G>A, NM_001406866.1:c.1541G>T, NM_001406866.1:c.1541G>C, NM_001406866.1:c.1541G>A, NM_001406897.1:c.950G>T, NM_001406897.1:c.950G>C, NM_001406897.1:c.950G>A, NM_001406878.1:c.1046G>T, NM_001406878.1:c.1046G>C, NM_001406878.1:c.1046G>A, NM_001406898.1:c.950G>T, NM_001406898.1:c.950G>C, NM_001406898.1:c.950G>A, NM_001406891.1:c.950G>T, NM_001406891.1:c.950G>C, NM_001406891.1:c.950G>A, NM_001406894.1:c.950G>T, NM_001406894.1:c.950G>C, NM_001406894.1:c.950G>A, NM_001406899.1:c.950G>T, NM_001406899.1:c.950G>C, NM_001406899.1:c.950G>A, NM_001406880.1:c.1046G>T, NM_001406880.1:c.1046G>C, NM_001406880.1:c.1046G>A, NM_001406879.1:c.1046G>T, NM_001406879.1:c.1046G>C, NM_001406879.1:c.1046G>A, NM_001406887.1:c.950G>T, NM_001406887.1:c.950G>C, NM_001406887.1:c.950G>A, NM_001406868.1:c.1379G>T, NM_001406868.1:c.1379G>C, NM_001406868.1:c.1379G>A, NR_136154.1:n.1442G>T, NR_136154.1:n.1442G>C, NR_136154.1:n.1442G>A, NM_001406890.1:c.950G>T, NM_001406890.1:c.950G>C, NM_001406890.1:c.950G>A, NM_001406888.1:c.950G>T, NM_001406888.1:c.950G>C, NM_001406888.1:c.950G>A, NM_001406892.1:c.950G>T, NM_001406892.1:c.950G>C, NM_001406892.1:c.950G>A, NM_001406889.1:c.950G>T, NM_001406889.1:c.950G>C, NM_001406889.1:c.950G>A, NM_001406881.1:c.1046G>T, NM_001406881.1:c.1046G>C, NM_001406881.1:c.1046G>A, NM_001406876.1:c.1037G>T, NM_001406876.1:c.1037G>C, NM_001406876.1:c.1037G>A, NM_001406900.1:c.890G>T, NM_001406900.1:c.890G>C, NM_001406900.1:c.890G>A, NM_001406883.1:c.1037G>T, NM_001406883.1:c.1037G>C, NM_001406883.1:c.1037G>A, NM_001406869.1:c.1247G>T, NM_001406869.1:c.1247G>C, NM_001406869.1:c.1247G>A, NM_001406905.1:c.842G>T, NM_001406905.1:c.842G>C, NM_001406905.1:c.842G>A, NM_001406870.1:c.1199G>T, NM_001406870.1:c.1199G>C, NM_001406870.1:c.1199G>A, NM_001406871.1:c.1355G>T, NM_001406871.1:c.1355G>C, NM_001406871.1:c.1355G>A, NM_001406906.1:c.794G>T, NM_001406906.1:c.794G>C, NM_001406906.1:c.794G>A, NM_001406904.1:c.842G>T, NM_001406904.1:c.842G>C, NM_001406904.1:c.842G>A, NM_001406874.1:c.1187G>T, NM_001406874.1:c.1187G>C, NM_001406874.1:c.1187G>A, NM_001406872.1:c.1355G>T, NM_001406872.1:c.1355G>C, NM_001406872.1:c.1355G>A, NM_001406908.1:c.950G>T, NM_001406908.1:c.950G>C, NM_001406908.1:c.950G>A, NM_001406896.1:c.950G>T, NM_001406896.1:c.950G>C, NM_001406896.1:c.950G>A, NM_001406895.1:c.950G>T, NM_001406895.1:c.950G>C, NM_001406895.1:c.950G>A, NM_001406873.1:c.1157G>T, NM_001406873.1:c.1157G>C, NM_001406873.1:c.1157G>A, NM_001406907.1:c.794G>T, NM_001406907.1:c.794G>C, NM_001406907.1:c.794G>A, NM_001406909.1:c.782G>T, NM_001406909.1:c.782G>C, NM_001406909.1:c.782G>A, NM_001406901.1:c.881G>T, NM_001406901.1:c.881G>C, NM_001406901.1:c.881G>A, NM_001406902.1:c.881G>T, NM_001406902.1:c.881G>C, NM_001406902.1:c.881G>A, NM_001406903.1:c.1037G>T, NM_001406903.1:c.1037G>C, NM_001406903.1:c.1037G>A, NM_001406910.1:c.950G>T, NM_001406910.1:c.950G>C, NM_001406910.1:c.950G>A, NM_001406884.1:c.1031G>T, NM_001406884.1:c.1031G>C, NM_001406884.1:c.1031G>A, NM_001406885.1:c.1019G>T, NM_001406885.1:c.1019G>C, NM_001406885.1:c.1019G>A, NM_001406886.1:c.989G>T, NM_001406886.1:c.989G>C, NM_001406886.1:c.989G>A, NM_001406911.1:c.584G>T, NM_001406911.1:c.584G>C, NM_001406911.1:c.584G>A, XM_024446800.2:c.794G>T, XM_024446800.2:c.794G>C, XM_024446800.2:c.794G>A, NR_003085.2:n.1437G>T, NR_003085.2:n.1437G>C, NR_003085.2:n.1437G>A, XM_047420482.1:c.1400G>T, XM_047420482.1:c.1400G>C, XM_047420482.1:c.1400G>A, XM_047420483.1:c.1349G>T, XM_047420483.1:c.1349G>C, XM_047420483.1:c.1349G>A, XM_047420484.1:c.1244G>T, XM_047420484.1:c.1244G>C, XM_047420484.1:c.1244G>A, XM_047420485.1:c.1037G>T, XM_047420485.1:c.1037G>C, XM_047420485.1:c.1037G>A, XM_047420486.1:c.422G>T, XM_047420486.1:c.422G>C, XM_047420486.1:c.422G>A, NM_001018040.1:c.950G>T, NM_001018040.1:c.950G>C, NM_001018040.1:c.950G>A, NP_000526.2:p.Gly452Val, NP_000526.2:p.Gly452Ala, NP_000526.2:p.Gly452Asp, NP_001308938.1:p.Gly317Val, NP_001308938.1:p.Gly317Ala, NP_001308938.1:p.Gly317Asp, NP_001308934.1:p.Gly317Val, NP_001308934.1:p.Gly317Ala, NP_001308934.1:p.Gly317Asp, NP_001308944.1:p.Gly349Val, NP_001308944.1:p.Gly349Ala, NP_001308944.1:p.Gly349Asp, NP_001308943.1:p.Gly452Val, NP_001308943.1:p.Gly452Ala, NP_001308943.1:p.Gly452Asp, NP_001308932.1:p.Gly317Val, NP_001308932.1:p.Gly317Ala, NP_001308932.1:p.Gly317Asp, NP_001308940.1:p.Gly141Val, NP_001308940.1:p.Gly141Ala, NP_001308940.1:p.Gly141Asp, NP_001308941.1:p.Gly141Val, NP_001308941.1:p.Gly141Ala, NP_001308941.1:p.Gly141Asp, NP_001308936.1:p.Gly346Val, NP_001308936.1:p.Gly346Ala, NP_001308936.1:p.Gly346Asp, NP_001308933.1:p.Gly317Val, NP_001308933.1:p.Gly317Ala, NP_001308933.1:p.Gly317Asp, NP_001308935.1:p.Gly400Val, NP_001308935.1:p.Gly400Ala, NP_001308935.1:p.Gly400Asp, NP_001308942.1:p.Gly261Val, NP_001308942.1:p.Gly261Ala, NP_001308942.1:p.Gly261Asp, NP_001308937.1:p.Gly346Val, NP_001308937.1:p.Gly346Ala, NP_001308937.1:p.Gly346Asp, NP_001308939.1:p.Gly265Val, NP_001308939.1:p.Gly265Ala, NP_001308939.1:p.Gly265Asp, XP_024302568.1:p.Gly265Val, XP_024302568.1:p.Gly265Ala, XP_024302568.1:p.Gly265Asp, XP_047276438.1:p.Gly467Val, XP_047276438.1:p.Gly467Ala, XP_047276438.1:p.Gly467Asp, XP_047276439.1:p.Gly450Val, XP_047276439.1:p.Gly450Ala, XP_047276439.1:p.Gly450Asp, XP_047276440.1:p.Gly415Val, XP_047276440.1:p.Gly415Ala, XP_047276440.1:p.Gly415Asp, XP_047276441.1:p.Gly346Val, XP_047276441.1:p.Gly346Ala, XP_047276441.1:p.Gly346Asp, XP_047276442.1:p.Gly141Val, XP_047276442.1:p.Gly141Ala, XP_047276442.1:p.Gly141Asp

      3.

      rs1489085045 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        7:5977635 (GRCh38)
        7:6017266 (GRCh37)
        Canonical SPDI:
        NC_000007.14:5977634:G:A,NC_000007.14:5977634:G:C
        Gene:
        PMS2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        HGVS:
        NC_000007.14:g.5977635G>A, NC_000007.14:g.5977635G>C, NC_000007.13:g.6017266G>A, NC_000007.13:g.6017266G>C, NG_008466.1:g.36472C>T, NG_008466.1:g.36472C>G, NM_000535.7:c.2398C>T, NM_000535.7:c.2398C>G, NM_000535.6:c.2398C>T, NM_000535.6:c.2398C>G, NM_000535.5:c.2398C>T, NM_000535.5:c.2398C>G, NM_001322009.2:c.2026C>T, NM_001322009.2:c.2026C>G, NM_001322009.1:c.2026C>T, NM_001322009.1:c.2026C>G, NM_001322005.2:c.1993C>T, NM_001322005.2:c.1993C>G, NM_001322005.1:c.1993C>T, NM_001322005.1:c.1993C>G, NM_001322015.2:c.2089C>T, NM_001322015.2:c.2089C>G, NM_001322015.1:c.2089C>T, NM_001322015.1:c.2089C>G, NM_001322014.2:c.2431C>T, NM_001322014.2:c.2431C>G, NM_001322014.1:c.2431C>T, NM_001322014.1:c.2431C>G, NM_001322003.2:c.1993C>T, NM_001322003.2:c.1993C>G, NM_001322003.1:c.1993C>T, NM_001322003.1:c.1993C>G, NM_001322011.2:c.1465C>T, NM_001322011.2:c.1465C>G, NM_001322011.1:c.1465C>T, NM_001322011.1:c.1465C>G, NM_001322012.2:c.1465C>T, NM_001322012.2:c.1465C>G, NM_001322012.1:c.1465C>T, NM_001322012.1:c.1465C>G, NM_001322007.2:c.2080C>T, NM_001322007.2:c.2080C>G, NM_001322007.1:c.2080C>T, NM_001322007.1:c.2080C>G, NM_001322004.2:c.1993C>T, NM_001322004.2:c.1993C>G, NM_001322004.1:c.1993C>T, NM_001322004.1:c.1993C>G, NM_001322006.2:c.2242C>T, NM_001322006.2:c.2242C>G, NM_001322006.1:c.2242C>T, NM_001322006.1:c.2242C>G, NM_001322013.2:c.1825C>T, NM_001322013.2:c.1825C>G, NM_001322013.1:c.1825C>T, NM_001322013.1:c.1825C>G, NM_001322008.2:c.2080C>T, NM_001322008.2:c.2080C>G, NM_001322008.1:c.2080C>T, NM_001322008.1:c.2080C>G, NM_001322010.2:c.1837C>T, NM_001322010.2:c.1837C>G, NM_001322010.1:c.1837C>T, NM_001322010.1:c.1837C>G, NM_001406877.1:c.2089C>T, NM_001406877.1:c.2089C>G, NM_001406875.1:c.2122C>T, NM_001406875.1:c.2122C>G, NM_001406882.1:c.2089C>T, NM_001406882.1:c.2089C>G, NM_001406893.1:c.1993C>T, NM_001406893.1:c.1993C>G, NM_001406866.1:c.2584C>T, NM_001406866.1:c.2584C>G, NM_001406897.1:c.1993C>T, NM_001406897.1:c.1993C>G, NM_001406878.1:c.2089C>T, NM_001406878.1:c.2089C>G, NM_001406898.1:c.1993C>T, NM_001406898.1:c.1993C>G, NM_001406891.1:c.1993C>T, NM_001406891.1:c.1993C>G, NM_001406894.1:c.1993C>T, NM_001406894.1:c.1993C>G, NM_001406899.1:c.1993C>T, NM_001406899.1:c.1993C>G, NM_001406880.1:c.2089C>T, NM_001406880.1:c.2089C>G, NM_001406879.1:c.2089C>T, NM_001406879.1:c.2089C>G, NM_001406887.1:c.2026C>T, NM_001406887.1:c.2026C>G, NM_001406868.1:c.2422C>T, NM_001406868.1:c.2422C>G, NR_136154.1:n.2442C>T, NR_136154.1:n.2442C>G, NM_001406890.1:c.1993C>T, NM_001406890.1:c.1993C>G, NM_001406888.1:c.2026C>T, NM_001406888.1:c.2026C>G, NM_001406892.1:c.1993C>T, NM_001406892.1:c.1993C>G, NM_001406889.1:c.1993C>T, NM_001406889.1:c.1993C>G, NM_001406881.1:c.2089C>T, NM_001406881.1:c.2089C>G, NM_001406876.1:c.2113C>T, NM_001406876.1:c.2113C>G, NM_001406900.1:c.1933C>T, NM_001406900.1:c.1933C>G, NM_001406883.1:c.2080C>T, NM_001406883.1:c.2080C>G, NM_001406869.1:c.2290C>T, NM_001406869.1:c.2290C>G, NM_001406905.1:c.1885C>T, NM_001406905.1:c.1885C>G, NM_001406870.1:c.2275C>T, NM_001406870.1:c.2275C>G, NM_001406871.1:c.2254C>T, NM_001406871.1:c.2254C>G, NM_001406906.1:c.1837C>T, NM_001406906.1:c.1837C>G, NM_001406904.1:c.1885C>T, NM_001406904.1:c.1885C>G, NM_001406874.1:c.2230C>T, NM_001406874.1:c.2230C>G, NM_001406872.1:c.2230C>T, NM_001406872.1:c.2230C>G, NM_001406908.1:c.1825C>T, NM_001406908.1:c.1825C>G, NM_001406896.1:c.1993C>T, NM_001406896.1:c.1993C>G, NM_001406895.1:c.1993C>T, NM_001406895.1:c.1993C>G, NM_001406873.1:c.2200C>T, NM_001406873.1:c.2200C>G, NM_001406907.1:c.1837C>T, NM_001406907.1:c.1837C>G, NM_001406909.1:c.1825C>T, NM_001406909.1:c.1825C>G, NM_001406901.1:c.1924C>T, NM_001406901.1:c.1924C>G, NM_001406902.1:c.1924C>T, NM_001406902.1:c.1924C>G, NM_001406903.1:c.1912C>T, NM_001406903.1:c.1912C>G, NM_001406910.1:c.1681C>T, NM_001406910.1:c.1681C>G, NM_001406884.1:c.2074C>T, NM_001406884.1:c.2074C>G, NM_001406885.1:c.2062C>T, NM_001406885.1:c.2062C>G, NM_001406886.1:c.2032C>T, NM_001406886.1:c.2032C>G, NM_001406911.1:c.1627C>T, NM_001406911.1:c.1627C>G, NM_001406912.1:c.1195C>T, NM_001406912.1:c.1195C>G, XM_024446800.2:c.1837C>T, XM_024446800.2:c.1837C>G, NR_003085.2:n.2480C>T, NR_003085.2:n.2480C>G, XM_047420482.1:c.2443C>T, XM_047420482.1:c.2443C>G, XM_047420483.1:c.2392C>T, XM_047420483.1:c.2392C>G, XM_047420484.1:c.2287C>T, XM_047420484.1:c.2287C>G, XM_047420485.1:c.2080C>T, XM_047420485.1:c.2080C>G, XM_047420486.1:c.1465C>T, XM_047420486.1:c.1465C>G, NM_001018040.1:c.1993C>T, NM_001018040.1:c.1993C>G, NP_000526.2:p.Pro800Ser, NP_000526.2:p.Pro800Ala, NP_001308938.1:p.Pro676Ser, NP_001308938.1:p.Pro676Ala, NP_001308934.1:p.Pro665Ser, NP_001308934.1:p.Pro665Ala, NP_001308944.1:p.Pro697Ser, NP_001308944.1:p.Pro697Ala, NP_001308943.1:p.Pro811Ser, NP_001308943.1:p.Pro811Ala, NP_001308932.1:p.Pro665Ser, NP_001308932.1:p.Pro665Ala, NP_001308940.1:p.Pro489Ser, NP_001308940.1:p.Pro489Ala, NP_001308941.1:p.Pro489Ser, NP_001308941.1:p.Pro489Ala, NP_001308936.1:p.Pro694Ser, NP_001308936.1:p.Pro694Ala, NP_001308933.1:p.Pro665Ser, NP_001308933.1:p.Pro665Ala, NP_001308935.1:p.Pro748Ser, NP_001308935.1:p.Pro748Ala, NP_001308942.1:p.Pro609Ser, NP_001308942.1:p.Pro609Ala, NP_001308937.1:p.Pro694Ser, NP_001308937.1:p.Pro694Ala, NP_001308939.1:p.Pro613Ser, NP_001308939.1:p.Pro613Ala, XP_024302568.1:p.Pro613Ser, XP_024302568.1:p.Pro613Ala, XP_047276438.1:p.Pro815Ser, XP_047276438.1:p.Pro815Ala, XP_047276439.1:p.Pro798Ser, XP_047276439.1:p.Pro798Ala, XP_047276440.1:p.Pro763Ser, XP_047276440.1:p.Pro763Ala, XP_047276441.1:p.Pro694Ser, XP_047276441.1:p.Pro694Ala, XP_047276442.1:p.Pro489Ser, XP_047276442.1:p.Pro489Ala

        4.

        rs1488971334 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G,T [Show Flanks]
          Chromosome:
          7:5986812 (GRCh38)
          7:6026443 (GRCh37)
          Canonical SPDI:
          NC_000007.14:5986811:C:A,NC_000007.14:5986811:C:G,NC_000007.14:5986811:C:T
          Gene:
          PMS2 (Varview)
          Functional Consequence:
          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Clinical significance:
          uncertain-significance,likely-benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          A=0.000019/5 (TOPMED)
          HGVS:
          NC_000007.14:g.5986812C>A, NC_000007.14:g.5986812C>G, NC_000007.14:g.5986812C>T, NC_000007.13:g.6026443C>A, NC_000007.13:g.6026443C>G, NC_000007.13:g.6026443C>T, NG_008466.1:g.27295G>T, NG_008466.1:g.27295G>C, NG_008466.1:g.27295G>A, NM_000535.7:c.1953G>T, NM_000535.7:c.1953G>C, NM_000535.7:c.1953G>A, NM_000535.6:c.1953G>T, NM_000535.6:c.1953G>C, NM_000535.6:c.1953G>A, NM_000535.5:c.1953G>T, NM_000535.5:c.1953G>C, NM_000535.5:c.1953G>A, NM_001322009.2:c.1548G>T, NM_001322009.2:c.1548G>C, NM_001322009.2:c.1548G>A, NM_001322009.1:c.1548G>T, NM_001322009.1:c.1548G>C, NM_001322009.1:c.1548G>A, NM_001322005.2:c.1548G>T, NM_001322005.2:c.1548G>C, NM_001322005.2:c.1548G>A, NM_001322005.1:c.1548G>T, NM_001322005.1:c.1548G>C, NM_001322005.1:c.1548G>A, NM_001322015.2:c.1644G>T, NM_001322015.2:c.1644G>C, NM_001322015.2:c.1644G>A, NM_001322015.1:c.1644G>T, NM_001322015.1:c.1644G>C, NM_001322015.1:c.1644G>A, NM_001322014.2:c.1953G>T, NM_001322014.2:c.1953G>C, NM_001322014.2:c.1953G>A, NM_001322014.1:c.1953G>T, NM_001322014.1:c.1953G>C, NM_001322014.1:c.1953G>A, NM_001322003.2:c.1548G>T, NM_001322003.2:c.1548G>C, NM_001322003.2:c.1548G>A, NM_001322003.1:c.1548G>T, NM_001322003.1:c.1548G>C, NM_001322003.1:c.1548G>A, NM_001322011.2:c.1020G>T, NM_001322011.2:c.1020G>C, NM_001322011.2:c.1020G>A, NM_001322011.1:c.1020G>T, NM_001322011.1:c.1020G>C, NM_001322011.1:c.1020G>A, NM_001322012.2:c.1020G>T, NM_001322012.2:c.1020G>C, NM_001322012.2:c.1020G>A, NM_001322012.1:c.1020G>T, NM_001322012.1:c.1020G>C, NM_001322012.1:c.1020G>A, NM_001322007.2:c.1635G>T, NM_001322007.2:c.1635G>C, NM_001322007.2:c.1635G>A, NM_001322007.1:c.1635G>T, NM_001322007.1:c.1635G>C, NM_001322007.1:c.1635G>A, NM_001322004.2:c.1548G>T, NM_001322004.2:c.1548G>C, NM_001322004.2:c.1548G>A, NM_001322004.1:c.1548G>T, NM_001322004.1:c.1548G>C, NM_001322004.1:c.1548G>A, NM_001322006.2:c.1797G>T, NM_001322006.2:c.1797G>C, NM_001322006.2:c.1797G>A, NM_001322006.1:c.1797G>T, NM_001322006.1:c.1797G>C, NM_001322006.1:c.1797G>A, NM_001322013.2:c.1380G>T, NM_001322013.2:c.1380G>C, NM_001322013.2:c.1380G>A, NM_001322013.1:c.1380G>T, NM_001322013.1:c.1380G>C, NM_001322013.1:c.1380G>A, NM_001322008.2:c.1635G>T, NM_001322008.2:c.1635G>C, NM_001322008.2:c.1635G>A, NM_001322008.1:c.1635G>T, NM_001322008.1:c.1635G>C, NM_001322008.1:c.1635G>A, NM_001322010.2:c.1392G>T, NM_001322010.2:c.1392G>C, NM_001322010.2:c.1392G>A, NM_001322010.1:c.1392G>T, NM_001322010.1:c.1392G>C, NM_001322010.1:c.1392G>A, NM_001406877.1:c.1644G>T, NM_001406877.1:c.1644G>C, NM_001406877.1:c.1644G>A, NM_001406875.1:c.1644G>T, NM_001406875.1:c.1644G>C, NM_001406875.1:c.1644G>A, NM_001406882.1:c.1644G>T, NM_001406882.1:c.1644G>C, NM_001406882.1:c.1644G>A, NM_001406893.1:c.1548G>T, NM_001406893.1:c.1548G>C, NM_001406893.1:c.1548G>A, NM_001406866.1:c.2139G>T, NM_001406866.1:c.2139G>C, NM_001406866.1:c.2139G>A, NM_001406897.1:c.1548G>T, NM_001406897.1:c.1548G>C, NM_001406897.1:c.1548G>A, NM_001406878.1:c.1644G>T, NM_001406878.1:c.1644G>C, NM_001406878.1:c.1644G>A, NM_001406898.1:c.1548G>T, NM_001406898.1:c.1548G>C, NM_001406898.1:c.1548G>A, NM_001406891.1:c.1548G>T, NM_001406891.1:c.1548G>C, NM_001406891.1:c.1548G>A, NM_001406894.1:c.1548G>T, NM_001406894.1:c.1548G>C, NM_001406894.1:c.1548G>A, NM_001406899.1:c.1548G>T, NM_001406899.1:c.1548G>C, NM_001406899.1:c.1548G>A, NM_001406880.1:c.1644G>T, NM_001406880.1:c.1644G>C, NM_001406880.1:c.1644G>A, NM_001406879.1:c.1644G>T, NM_001406879.1:c.1644G>C, NM_001406879.1:c.1644G>A, NM_001406887.1:c.1548G>T, NM_001406887.1:c.1548G>C, NM_001406887.1:c.1548G>A, NM_001406868.1:c.1977G>T, NM_001406868.1:c.1977G>C, NM_001406868.1:c.1977G>A, NR_136154.1:n.2040G>T, NR_136154.1:n.2040G>C, NR_136154.1:n.2040G>A, NM_001406890.1:c.1548G>T, NM_001406890.1:c.1548G>C, NM_001406890.1:c.1548G>A, NM_001406888.1:c.1548G>T, NM_001406888.1:c.1548G>C, NM_001406888.1:c.1548G>A, NM_001406892.1:c.1548G>T, NM_001406892.1:c.1548G>C, NM_001406892.1:c.1548G>A, NM_001406889.1:c.1548G>T, NM_001406889.1:c.1548G>C, NM_001406889.1:c.1548G>A, NM_001406881.1:c.1644G>T, NM_001406881.1:c.1644G>C, NM_001406881.1:c.1644G>A, NM_001406876.1:c.1635G>T, NM_001406876.1:c.1635G>C, NM_001406876.1:c.1635G>A, NM_001406900.1:c.1488G>T, NM_001406900.1:c.1488G>C, NM_001406900.1:c.1488G>A, NM_001406883.1:c.1635G>T, NM_001406883.1:c.1635G>C, NM_001406883.1:c.1635G>A, NM_001406869.1:c.1845G>T, NM_001406869.1:c.1845G>C, NM_001406869.1:c.1845G>A, NM_001406905.1:c.1440G>T, NM_001406905.1:c.1440G>C, NM_001406905.1:c.1440G>A, NM_001406870.1:c.1797G>T, NM_001406870.1:c.1797G>C, NM_001406870.1:c.1797G>A, NM_001406871.1:c.1953G>T, NM_001406871.1:c.1953G>C, NM_001406871.1:c.1953G>A, NM_001406906.1:c.1392G>T, NM_001406906.1:c.1392G>C, NM_001406906.1:c.1392G>A, NM_001406904.1:c.1440G>T, NM_001406904.1:c.1440G>C, NM_001406904.1:c.1440G>A, NM_001406874.1:c.1785G>T, NM_001406874.1:c.1785G>C, NM_001406874.1:c.1785G>A, NM_001406872.1:c.1953G>T, NM_001406872.1:c.1953G>C, NM_001406872.1:c.1953G>A, NM_001406908.1:c.1548G>T, NM_001406908.1:c.1548G>C, NM_001406908.1:c.1548G>A, NM_001406896.1:c.1548G>T, NM_001406896.1:c.1548G>C, NM_001406896.1:c.1548G>A, NM_001406895.1:c.1548G>T, NM_001406895.1:c.1548G>C, NM_001406895.1:c.1548G>A, NM_001406873.1:c.1755G>T, NM_001406873.1:c.1755G>C, NM_001406873.1:c.1755G>A, NM_001406907.1:c.1392G>T, NM_001406907.1:c.1392G>C, NM_001406907.1:c.1392G>A, NM_001406909.1:c.1380G>T, NM_001406909.1:c.1380G>C, NM_001406909.1:c.1380G>A, NM_001406901.1:c.1479G>T, NM_001406901.1:c.1479G>C, NM_001406901.1:c.1479G>A, NM_001406902.1:c.1479G>T, NM_001406902.1:c.1479G>C, NM_001406902.1:c.1479G>A, NM_001406903.1:c.1635G>T, NM_001406903.1:c.1635G>C, NM_001406903.1:c.1635G>A, NM_001406910.1:c.1548G>T, NM_001406910.1:c.1548G>C, NM_001406910.1:c.1548G>A, NM_001406884.1:c.1629G>T, NM_001406884.1:c.1629G>C, NM_001406884.1:c.1629G>A, NM_001406885.1:c.1617G>T, NM_001406885.1:c.1617G>C, NM_001406885.1:c.1617G>A, NM_001406886.1:c.1587G>T, NM_001406886.1:c.1587G>C, NM_001406886.1:c.1587G>A, NM_001406911.1:c.1182G>T, NM_001406911.1:c.1182G>C, NM_001406911.1:c.1182G>A, XM_024446800.2:c.1392G>T, XM_024446800.2:c.1392G>C, XM_024446800.2:c.1392G>A, NR_003085.2:n.2035G>T, NR_003085.2:n.2035G>C, NR_003085.2:n.2035G>A, XM_047420482.1:c.1998G>T, XM_047420482.1:c.1998G>C, XM_047420482.1:c.1998G>A, XM_047420483.1:c.1947G>T, XM_047420483.1:c.1947G>C, XM_047420483.1:c.1947G>A, XM_047420484.1:c.1842G>T, XM_047420484.1:c.1842G>C, XM_047420484.1:c.1842G>A, XM_047420485.1:c.1635G>T, XM_047420485.1:c.1635G>C, XM_047420485.1:c.1635G>A, XM_047420486.1:c.1020G>T, XM_047420486.1:c.1020G>C, XM_047420486.1:c.1020G>A, NM_001018040.1:c.1548G>T, NM_001018040.1:c.1548G>C, NM_001018040.1:c.1548G>A, NP_000526.2:p.Lys651Asn, NP_000526.2:p.Lys651Asn, NP_001308938.1:p.Lys516Asn, NP_001308938.1:p.Lys516Asn, NP_001308934.1:p.Lys516Asn, NP_001308934.1:p.Lys516Asn, NP_001308944.1:p.Lys548Asn, NP_001308944.1:p.Lys548Asn, NP_001308943.1:p.Lys651Asn, NP_001308943.1:p.Lys651Asn, NP_001308932.1:p.Lys516Asn, NP_001308932.1:p.Lys516Asn, NP_001308940.1:p.Lys340Asn, NP_001308940.1:p.Lys340Asn, NP_001308941.1:p.Lys340Asn, NP_001308941.1:p.Lys340Asn, NP_001308936.1:p.Lys545Asn, NP_001308936.1:p.Lys545Asn, NP_001308933.1:p.Lys516Asn, NP_001308933.1:p.Lys516Asn, NP_001308935.1:p.Lys599Asn, NP_001308935.1:p.Lys599Asn, NP_001308942.1:p.Lys460Asn, NP_001308942.1:p.Lys460Asn, NP_001308937.1:p.Lys545Asn, NP_001308937.1:p.Lys545Asn, NP_001308939.1:p.Lys464Asn, NP_001308939.1:p.Lys464Asn, XP_024302568.1:p.Lys464Asn, XP_024302568.1:p.Lys464Asn, XP_047276438.1:p.Lys666Asn, XP_047276438.1:p.Lys666Asn, XP_047276439.1:p.Lys649Asn, XP_047276439.1:p.Lys649Asn, XP_047276440.1:p.Lys614Asn, XP_047276440.1:p.Lys614Asn, XP_047276441.1:p.Lys545Asn, XP_047276441.1:p.Lys545Asn, XP_047276442.1:p.Lys340Asn, XP_047276442.1:p.Lys340Asn

          5.

          rs1488622375 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A,C [Show Flanks]
            Chromosome:
            7:5987193 (GRCh38)
            7:6026824 (GRCh37)
            Canonical SPDI:
            NC_000007.14:5987192:T:A,NC_000007.14:5987192:T:C
            Gene:
            PMS2 (Varview)
            Functional Consequence:
            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
            Clinical significance:
            likely-benign
            Validated:
            by frequency,by cluster
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000007.14:g.5987193T>A, NC_000007.14:g.5987193T>C, NC_000007.13:g.6026824T>A, NC_000007.13:g.6026824T>C, NG_008466.1:g.26914A>T, NG_008466.1:g.26914A>G, NM_000535.7:c.1572A>T, NM_000535.7:c.1572A>G, NM_000535.6:c.1572A>T, NM_000535.6:c.1572A>G, NM_000535.5:c.1572A>T, NM_000535.5:c.1572A>G, NM_001322009.2:c.1167A>T, NM_001322009.2:c.1167A>G, NM_001322009.1:c.1167A>T, NM_001322009.1:c.1167A>G, NM_001322005.2:c.1167A>T, NM_001322005.2:c.1167A>G, NM_001322005.1:c.1167A>T, NM_001322005.1:c.1167A>G, NM_001322015.2:c.1263A>T, NM_001322015.2:c.1263A>G, NM_001322015.1:c.1263A>T, NM_001322015.1:c.1263A>G, NM_001322014.2:c.1572A>T, NM_001322014.2:c.1572A>G, NM_001322014.1:c.1572A>T, NM_001322014.1:c.1572A>G, NM_001322003.2:c.1167A>T, NM_001322003.2:c.1167A>G, NM_001322003.1:c.1167A>T, NM_001322003.1:c.1167A>G, NM_001322011.2:c.639A>T, NM_001322011.2:c.639A>G, NM_001322011.1:c.639A>T, NM_001322011.1:c.639A>G, NM_001322012.2:c.639A>T, NM_001322012.2:c.639A>G, NM_001322012.1:c.639A>T, NM_001322012.1:c.639A>G, NM_001322007.2:c.1254A>T, NM_001322007.2:c.1254A>G, NM_001322007.1:c.1254A>T, NM_001322007.1:c.1254A>G, NM_001322004.2:c.1167A>T, NM_001322004.2:c.1167A>G, NM_001322004.1:c.1167A>T, NM_001322004.1:c.1167A>G, NM_001322006.2:c.1416A>T, NM_001322006.2:c.1416A>G, NM_001322006.1:c.1416A>T, NM_001322006.1:c.1416A>G, NM_001322013.2:c.999A>T, NM_001322013.2:c.999A>G, NM_001322013.1:c.999A>T, NM_001322013.1:c.999A>G, NM_001322008.2:c.1254A>T, NM_001322008.2:c.1254A>G, NM_001322008.1:c.1254A>T, NM_001322008.1:c.1254A>G, NM_001322010.2:c.1011A>T, NM_001322010.2:c.1011A>G, NM_001322010.1:c.1011A>T, NM_001322010.1:c.1011A>G, NM_001406877.1:c.1263A>T, NM_001406877.1:c.1263A>G, NM_001406875.1:c.1263A>T, NM_001406875.1:c.1263A>G, NM_001406882.1:c.1263A>T, NM_001406882.1:c.1263A>G, NM_001406893.1:c.1167A>T, NM_001406893.1:c.1167A>G, NM_001406866.1:c.1758A>T, NM_001406866.1:c.1758A>G, NM_001406897.1:c.1167A>T, NM_001406897.1:c.1167A>G, NM_001406878.1:c.1263A>T, NM_001406878.1:c.1263A>G, NM_001406898.1:c.1167A>T, NM_001406898.1:c.1167A>G, NM_001406891.1:c.1167A>T, NM_001406891.1:c.1167A>G, NM_001406894.1:c.1167A>T, NM_001406894.1:c.1167A>G, NM_001406899.1:c.1167A>T, NM_001406899.1:c.1167A>G, NM_001406880.1:c.1263A>T, NM_001406880.1:c.1263A>G, NM_001406879.1:c.1263A>T, NM_001406879.1:c.1263A>G, NM_001406887.1:c.1167A>T, NM_001406887.1:c.1167A>G, NM_001406868.1:c.1596A>T, NM_001406868.1:c.1596A>G, NR_136154.1:n.1659A>T, NR_136154.1:n.1659A>G, NM_001406890.1:c.1167A>T, NM_001406890.1:c.1167A>G, NM_001406888.1:c.1167A>T, NM_001406888.1:c.1167A>G, NM_001406892.1:c.1167A>T, NM_001406892.1:c.1167A>G, NM_001406889.1:c.1167A>T, NM_001406889.1:c.1167A>G, NM_001406881.1:c.1263A>T, NM_001406881.1:c.1263A>G, NM_001406876.1:c.1254A>T, NM_001406876.1:c.1254A>G, NM_001406900.1:c.1107A>T, NM_001406900.1:c.1107A>G, NM_001406883.1:c.1254A>T, NM_001406883.1:c.1254A>G, NM_001406869.1:c.1464A>T, NM_001406869.1:c.1464A>G, NM_001406905.1:c.1059A>T, NM_001406905.1:c.1059A>G, NM_001406870.1:c.1416A>T, NM_001406870.1:c.1416A>G, NM_001406871.1:c.1572A>T, NM_001406871.1:c.1572A>G, NM_001406906.1:c.1011A>T, NM_001406906.1:c.1011A>G, NM_001406904.1:c.1059A>T, NM_001406904.1:c.1059A>G, NM_001406874.1:c.1404A>T, NM_001406874.1:c.1404A>G, NM_001406872.1:c.1572A>T, NM_001406872.1:c.1572A>G, NM_001406908.1:c.1167A>T, NM_001406908.1:c.1167A>G, NM_001406896.1:c.1167A>T, NM_001406896.1:c.1167A>G, NM_001406895.1:c.1167A>T, NM_001406895.1:c.1167A>G, NM_001406873.1:c.1374A>T, NM_001406873.1:c.1374A>G, NM_001406907.1:c.1011A>T, NM_001406907.1:c.1011A>G, NM_001406909.1:c.999A>T, NM_001406909.1:c.999A>G, NM_001406901.1:c.1098A>T, NM_001406901.1:c.1098A>G, NM_001406902.1:c.1098A>T, NM_001406902.1:c.1098A>G, NM_001406903.1:c.1254A>T, NM_001406903.1:c.1254A>G, NM_001406910.1:c.1167A>T, NM_001406910.1:c.1167A>G, NM_001406884.1:c.1248A>T, NM_001406884.1:c.1248A>G, NM_001406885.1:c.1236A>T, NM_001406885.1:c.1236A>G, NM_001406886.1:c.1206A>T, NM_001406886.1:c.1206A>G, NM_001406911.1:c.801A>T, NM_001406911.1:c.801A>G, XM_024446800.2:c.1011A>T, XM_024446800.2:c.1011A>G, NR_003085.2:n.1654A>T, NR_003085.2:n.1654A>G, XM_047420482.1:c.1617A>T, XM_047420482.1:c.1617A>G, XM_047420483.1:c.1566A>T, XM_047420483.1:c.1566A>G, XM_047420484.1:c.1461A>T, XM_047420484.1:c.1461A>G, XM_047420485.1:c.1254A>T, XM_047420485.1:c.1254A>G, XM_047420486.1:c.639A>T, XM_047420486.1:c.639A>G, NM_001018040.1:c.1167A>T, NM_001018040.1:c.1167A>G

            6.

            rs1487122007 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              7:5986893 (GRCh38)
              7:6026524 (GRCh37)
              Canonical SPDI:
              NC_000007.14:5986892:A:G
              Gene:
              PMS2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000007.14:g.5986893A>G, NC_000007.13:g.6026524A>G, NG_008466.1:g.27214T>C, NM_000535.7:c.1872T>C, NM_000535.6:c.1872T>C, NM_000535.5:c.1872T>C, NM_001322009.2:c.1467T>C, NM_001322009.1:c.1467T>C, NM_001322005.2:c.1467T>C, NM_001322005.1:c.1467T>C, NM_001322015.2:c.1563T>C, NM_001322015.1:c.1563T>C, NM_001322014.2:c.1872T>C, NM_001322014.1:c.1872T>C, NM_001322003.2:c.1467T>C, NM_001322003.1:c.1467T>C, NM_001322011.2:c.939T>C, NM_001322011.1:c.939T>C, NM_001322012.2:c.939T>C, NM_001322012.1:c.939T>C, NM_001322007.2:c.1554T>C, NM_001322007.1:c.1554T>C, NM_001322004.2:c.1467T>C, NM_001322004.1:c.1467T>C, NM_001322006.2:c.1716T>C, NM_001322006.1:c.1716T>C, NM_001322013.2:c.1299T>C, NM_001322013.1:c.1299T>C, NM_001322008.2:c.1554T>C, NM_001322008.1:c.1554T>C, NM_001322010.2:c.1311T>C, NM_001322010.1:c.1311T>C, NM_001406877.1:c.1563T>C, NM_001406875.1:c.1563T>C, NM_001406882.1:c.1563T>C, NM_001406893.1:c.1467T>C, NM_001406866.1:c.2058T>C, NM_001406897.1:c.1467T>C, NM_001406878.1:c.1563T>C, NM_001406898.1:c.1467T>C, NM_001406891.1:c.1467T>C, NM_001406894.1:c.1467T>C, NM_001406899.1:c.1467T>C, NM_001406880.1:c.1563T>C, NM_001406879.1:c.1563T>C, NM_001406887.1:c.1467T>C, NM_001406868.1:c.1896T>C, NR_136154.1:n.1959T>C, NM_001406890.1:c.1467T>C, NM_001406888.1:c.1467T>C, NM_001406892.1:c.1467T>C, NM_001406889.1:c.1467T>C, NM_001406881.1:c.1563T>C, NM_001406876.1:c.1554T>C, NM_001406900.1:c.1407T>C, NM_001406883.1:c.1554T>C, NM_001406869.1:c.1764T>C, NM_001406905.1:c.1359T>C, NM_001406870.1:c.1716T>C, NM_001406871.1:c.1872T>C, NM_001406906.1:c.1311T>C, NM_001406904.1:c.1359T>C, NM_001406874.1:c.1704T>C, NM_001406872.1:c.1872T>C, NM_001406908.1:c.1467T>C, NM_001406896.1:c.1467T>C, NM_001406895.1:c.1467T>C, NM_001406873.1:c.1674T>C, NM_001406907.1:c.1311T>C, NM_001406909.1:c.1299T>C, NM_001406901.1:c.1398T>C, NM_001406902.1:c.1398T>C, NM_001406903.1:c.1554T>C, NM_001406910.1:c.1467T>C, NM_001406884.1:c.1548T>C, NM_001406885.1:c.1536T>C, NM_001406886.1:c.1506T>C, NM_001406911.1:c.1101T>C, XM_024446800.2:c.1311T>C, NR_003085.2:n.1954T>C, XM_047420482.1:c.1917T>C, XM_047420483.1:c.1866T>C, XM_047420484.1:c.1761T>C, XM_047420485.1:c.1554T>C, XM_047420486.1:c.939T>C, NM_001018040.1:c.1467T>C

              7.

              rs1486525680 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                G>- [Show Flanks]
                Chromosome:
                7:5977629 (GRCh38)
                7:6017260 (GRCh37)
                Canonical SPDI:
                NC_000007.14:5977628:GGG:GG
                Gene:
                PMS2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                Validated:
                by cluster
                HGVS:
                NC_000007.14:g.5977631del, NC_000007.13:g.6017262del, NG_008466.1:g.36478del, NM_000535.7:c.2404del, NM_000535.6:c.2404del, NM_000535.5:c.2404del, NM_001322009.2:c.2032del, NM_001322009.1:c.2032del, NM_001322005.2:c.1999del, NM_001322005.1:c.1999del, NM_001322015.2:c.2095del, NM_001322015.1:c.2095del, NM_001322014.2:c.2437del, NM_001322014.1:c.2437del, NM_001322003.2:c.1999del, NM_001322003.1:c.1999del, NM_001322011.2:c.1471del, NM_001322011.1:c.1471del, NM_001322012.2:c.1471del, NM_001322012.1:c.1471del, NM_001322007.2:c.2086del, NM_001322007.1:c.2086del, NM_001322004.2:c.1999del, NM_001322004.1:c.1999del, NM_001322006.2:c.2248del, NM_001322006.1:c.2248del, NM_001322013.2:c.1831del, NM_001322013.1:c.1831del, NM_001322008.2:c.2086del, NM_001322008.1:c.2086del, NM_001322010.2:c.1843del, NM_001322010.1:c.1843del, NM_001406877.1:c.2095del, NM_001406875.1:c.2128del, NM_001406882.1:c.2095del, NM_001406893.1:c.1999del, NM_001406866.1:c.2590del, NM_001406897.1:c.1999del, NM_001406878.1:c.2095del, NM_001406898.1:c.1999del, NM_001406891.1:c.1999del, NM_001406894.1:c.1999del, NM_001406899.1:c.1999del, NM_001406880.1:c.2095del, NM_001406879.1:c.2095del, NM_001406887.1:c.2032del, NM_001406868.1:c.2428del, NR_136154.1:n.2448del, NM_001406890.1:c.1999del, NM_001406888.1:c.2032del, NM_001406892.1:c.1999del, NM_001406889.1:c.1999del, NM_001406881.1:c.2095del, NM_001406876.1:c.2119del, NM_001406900.1:c.1939del, NM_001406883.1:c.2086del, NM_001406869.1:c.2296del, NM_001406905.1:c.1891del, NM_001406870.1:c.2281del, NM_001406871.1:c.2260del, NM_001406906.1:c.1843del, NM_001406904.1:c.1891del, NM_001406874.1:c.2236del, NM_001406872.1:c.2236del, NM_001406908.1:c.1831del, NM_001406896.1:c.1999del, NM_001406895.1:c.1999del, NM_001406873.1:c.2206del, NM_001406907.1:c.1843del, NM_001406909.1:c.1831del, NM_001406901.1:c.1930del, NM_001406902.1:c.1930del, NM_001406903.1:c.1918del, NM_001406910.1:c.1687del, NM_001406884.1:c.2080del, NM_001406885.1:c.2068del, NM_001406886.1:c.2038del, NM_001406911.1:c.1633del, NM_001406912.1:c.1201del, XM_024446800.2:c.1843del, NR_003085.2:n.2486del, XM_047420482.1:c.2449del, XM_047420483.1:c.2398del, XM_047420484.1:c.2293del, XM_047420485.1:c.2086del, XM_047420486.1:c.1471del, NM_001018040.1:c.1999del, NP_000526.2:p.Arg802fs, NP_001308938.1:p.Arg678fs, NP_001308934.1:p.Arg667fs, NP_001308944.1:p.Arg699fs, NP_001308943.1:p.Arg813fs, NP_001308932.1:p.Arg667fs, NP_001308940.1:p.Arg491fs, NP_001308941.1:p.Arg491fs, NP_001308936.1:p.Arg696fs, NP_001308933.1:p.Arg667fs, NP_001308935.1:p.Arg750fs, NP_001308942.1:p.Arg611fs, NP_001308937.1:p.Arg696fs, NP_001308939.1:p.Arg615fs, XP_024302568.1:p.Arg615fs, XP_047276438.1:p.Arg817fs, XP_047276439.1:p.Arg800fs, XP_047276440.1:p.Arg765fs, XP_047276441.1:p.Arg696fs, XP_047276442.1:p.Arg491fs

                8.

                rs1481967985 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  7:6006021 (GRCh38)
                  7:6045652 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:6006020:C:A,NC_000007.14:6006020:C:G,NC_000007.14:6006020:C:T
                  Gene:
                  PMS2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000007.14:g.6006021C>A, NC_000007.14:g.6006021C>G, NC_000007.14:g.6006021C>T, NC_000007.13:g.6045652C>A, NC_000007.13:g.6045652C>G, NC_000007.13:g.6045652C>T, NG_008466.1:g.8086G>T, NG_008466.1:g.8086G>C, NG_008466.1:g.8086G>A, NM_000535.7:c.34G>T, NM_000535.7:c.34G>C, NM_000535.7:c.34G>A, NM_000535.6:c.34G>T, NM_000535.6:c.34G>C, NM_000535.6:c.34G>A, NM_000535.5:c.34G>T, NM_000535.5:c.34G>C, NM_000535.5:c.34G>A, NM_001322009.2:c.-372G>T, NM_001322009.2:c.-372G>C, NM_001322009.2:c.-372G>A, NM_001322009.1:c.-372G>T, NM_001322009.1:c.-372G>C, NM_001322009.1:c.-372G>A, NM_001322005.2:c.-372G>T, NM_001322005.2:c.-372G>C, NM_001322005.2:c.-372G>A, NM_001322005.1:c.-372G>T, NM_001322005.1:c.-372G>C, NM_001322005.1:c.-372G>A, NM_001322015.2:c.-451G>T, NM_001322015.2:c.-451G>C, NM_001322015.2:c.-451G>A, NM_001322015.1:c.-451G>T, NM_001322015.1:c.-451G>C, NM_001322015.1:c.-451G>A, NM_001322014.2:c.34G>T, NM_001322014.2:c.34G>C, NM_001322014.2:c.34G>A, NM_001322014.1:c.34G>T, NM_001322014.1:c.34G>C, NM_001322014.1:c.34G>A, NM_001322003.2:c.-372G>T, NM_001322003.2:c.-372G>C, NM_001322003.2:c.-372G>A, NM_001322003.1:c.-372G>T, NM_001322003.1:c.-372G>C, NM_001322003.1:c.-372G>A, NM_001322011.2:c.-851G>T, NM_001322011.2:c.-851G>C, NM_001322011.2:c.-851G>A, NM_001322011.1:c.-851G>T, NM_001322011.1:c.-851G>C, NM_001322011.1:c.-851G>A, NM_001322012.2:c.-851G>T, NM_001322012.2:c.-851G>C, NM_001322012.2:c.-851G>A, NM_001322012.1:c.-851G>T, NM_001322012.1:c.-851G>C, NM_001322012.1:c.-851G>A, NM_001322007.2:c.-182G>T, NM_001322007.2:c.-182G>C, NM_001322007.2:c.-182G>A, NM_001322007.1:c.-182G>T, NM_001322007.1:c.-182G>C, NM_001322007.1:c.-182G>A, NM_001322006.2:c.34G>T, NM_001322006.2:c.34G>C, NM_001322006.2:c.34G>A, NM_001322006.1:c.34G>T, NM_001322006.1:c.34G>C, NM_001322006.1:c.34G>A, NM_001322013.2:c.-372G>T, NM_001322013.2:c.-372G>C, NM_001322013.2:c.-372G>A, NM_001322013.1:c.-372G>T, NM_001322013.1:c.-372G>C, NM_001322013.1:c.-372G>A, NM_001406877.1:c.-451G>T, NM_001406877.1:c.-451G>C, NM_001406877.1:c.-451G>A, NM_001406875.1:c.-451G>T, NM_001406875.1:c.-451G>C, NM_001406875.1:c.-451G>A, NM_001406882.1:c.-451G>T, NM_001406882.1:c.-451G>C, NM_001406882.1:c.-451G>A, NM_001406893.1:c.-372G>T, NM_001406893.1:c.-372G>C, NM_001406893.1:c.-372G>A, NM_001406866.1:c.220G>T, NM_001406866.1:c.220G>C, NM_001406866.1:c.220G>A, NM_001406897.1:c.-372G>T, NM_001406897.1:c.-372G>C, NM_001406897.1:c.-372G>A, NM_001406878.1:c.-451G>T, NM_001406878.1:c.-451G>C, NM_001406878.1:c.-451G>A, NM_001406898.1:c.-372G>T, NM_001406898.1:c.-372G>C, NM_001406898.1:c.-372G>A, NM_001406891.1:c.-372G>T, NM_001406891.1:c.-372G>C, NM_001406891.1:c.-372G>A, NM_001406894.1:c.-319G>T, NM_001406894.1:c.-319G>C, NM_001406894.1:c.-319G>A, NM_001406899.1:c.-319G>T, NM_001406899.1:c.-319G>C, NM_001406899.1:c.-319G>A, NM_001406880.1:c.-398G>T, NM_001406880.1:c.-398G>C, NM_001406880.1:c.-398G>A, NM_001406887.1:c.-372G>T, NM_001406887.1:c.-372G>C, NM_001406887.1:c.-372G>A, NM_001406868.1:c.34G>T, NM_001406868.1:c.34G>C, NM_001406868.1:c.34G>A, NR_136154.1:n.121G>T, NR_136154.1:n.121G>C, NR_136154.1:n.121G>A, NM_001406890.1:c.-362G>T, NM_001406890.1:c.-362G>C, NM_001406890.1:c.-362G>A, NM_001406888.1:c.-319G>T, NM_001406888.1:c.-319G>C, NM_001406888.1:c.-319G>A, NM_001406892.1:c.-319G>T, NM_001406892.1:c.-319G>C, NM_001406892.1:c.-319G>A, NM_001406889.1:c.-319G>T, NM_001406889.1:c.-319G>C, NM_001406889.1:c.-319G>A, NM_001406876.1:c.-182G>T, NM_001406876.1:c.-182G>C, NM_001406876.1:c.-182G>A, NM_001406900.1:c.-348G>T, NM_001406900.1:c.-348G>C, NM_001406900.1:c.-348G>A, NM_001406883.1:c.-182G>T, NM_001406883.1:c.-182G>C, NM_001406883.1:c.-182G>A, NM_001406869.1:c.34G>T, NM_001406869.1:c.34G>C, NM_001406869.1:c.34G>A, NM_001406905.1:c.-372G>T, NM_001406905.1:c.-372G>C, NM_001406905.1:c.-372G>A, NM_001406870.1:c.34G>T, NM_001406870.1:c.34G>C, NM_001406870.1:c.34G>A, NM_001406871.1:c.34G>T, NM_001406871.1:c.34G>C, NM_001406871.1:c.34G>A, NM_001406906.1:c.-372G>T, NM_001406906.1:c.-372G>C, NM_001406906.1:c.-372G>A, NM_001406904.1:c.-319G>T, NM_001406904.1:c.-319G>C, NM_001406904.1:c.-319G>A, NM_001406874.1:c.34G>T, NM_001406874.1:c.34G>C, NM_001406874.1:c.34G>A, NM_001406872.1:c.34G>T, NM_001406872.1:c.34G>C, NM_001406872.1:c.34G>A, NM_001406908.1:c.-372G>T, NM_001406908.1:c.-372G>C, NM_001406908.1:c.-372G>A, NM_001406896.1:c.-182G>T, NM_001406896.1:c.-182G>C, NM_001406896.1:c.-182G>A, NM_001406873.1:c.34G>T, NM_001406873.1:c.34G>C, NM_001406873.1:c.34G>A, NM_001406907.1:c.-319G>T, NM_001406907.1:c.-319G>C, NM_001406907.1:c.-319G>A, NM_001406909.1:c.-319G>T, NM_001406909.1:c.-319G>C, NM_001406909.1:c.-319G>A, NM_001406901.1:c.-182G>T, NM_001406901.1:c.-182G>C, NM_001406901.1:c.-182G>A, NM_001406902.1:c.-182G>T, NM_001406902.1:c.-182G>C, NM_001406902.1:c.-182G>A, NM_001406903.1:c.-182G>T, NM_001406903.1:c.-182G>C, NM_001406903.1:c.-182G>A, NM_001406910.1:c.-372G>T, NM_001406910.1:c.-372G>C, NM_001406910.1:c.-372G>A, NM_001406884.1:c.34G>T, NM_001406884.1:c.34G>C, NM_001406884.1:c.34G>A, NM_001406885.1:c.34G>T, NM_001406885.1:c.34G>C, NM_001406885.1:c.34G>A, NM_001406886.1:c.34G>T, NM_001406886.1:c.34G>C, NM_001406886.1:c.34G>A, NM_001406912.1:c.34G>T, NM_001406912.1:c.34G>C, NM_001406912.1:c.34G>A, NG_050738.1:g.1771C>A, NG_050738.1:g.1771C>G, NG_050738.1:g.1771C>T, XM_024446800.2:c.-372G>T, XM_024446800.2:c.-372G>C, XM_024446800.2:c.-372G>A, NR_003085.2:n.116G>T, NR_003085.2:n.116G>C, NR_003085.2:n.116G>A, XM_047420482.1:c.79G>T, XM_047420482.1:c.79G>C, XM_047420482.1:c.79G>A, XM_047420483.1:c.28G>T, XM_047420483.1:c.28G>C, XM_047420483.1:c.28G>A, XM_047420484.1:c.79G>T, XM_047420484.1:c.79G>C, XM_047420484.1:c.79G>A, XM_047420485.1:c.-182G>T, XM_047420485.1:c.-182G>C, XM_047420485.1:c.-182G>A, NM_001018040.1:c.-372G>T, NM_001018040.1:c.-372G>C, NM_001018040.1:c.-372G>A, NP_000526.2:p.Ala12Ser, NP_000526.2:p.Ala12Pro, NP_000526.2:p.Ala12Thr, NP_001308943.1:p.Ala12Ser, NP_001308943.1:p.Ala12Pro, NP_001308943.1:p.Ala12Thr, NP_001308935.1:p.Ala12Ser, NP_001308935.1:p.Ala12Pro, NP_001308935.1:p.Ala12Thr, XP_047276438.1:p.Ala27Ser, XP_047276438.1:p.Ala27Pro, XP_047276438.1:p.Ala27Thr, XP_047276439.1:p.Ala10Ser, XP_047276439.1:p.Ala10Pro, XP_047276439.1:p.Ala10Thr, XP_047276440.1:p.Ala27Ser, XP_047276440.1:p.Ala27Pro, XP_047276440.1:p.Ala27Thr

                  9.

                  rs1481127167 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    7:5986798 (GRCh38)
                    7:6026429 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:5986797:T:C
                    Gene:
                    PMS2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000007.14:g.5986798T>C, NC_000007.13:g.6026429T>C, NG_008466.1:g.27309A>G, NM_000535.7:c.1967A>G, NM_000535.6:c.1967A>G, NM_000535.5:c.1967A>G, NM_001322009.2:c.1562A>G, NM_001322009.1:c.1562A>G, NM_001322005.2:c.1562A>G, NM_001322005.1:c.1562A>G, NM_001322015.2:c.1658A>G, NM_001322015.1:c.1658A>G, NM_001322014.2:c.1967A>G, NM_001322014.1:c.1967A>G, NM_001322003.2:c.1562A>G, NM_001322003.1:c.1562A>G, NM_001322011.2:c.1034A>G, NM_001322011.1:c.1034A>G, NM_001322012.2:c.1034A>G, NM_001322012.1:c.1034A>G, NM_001322007.2:c.1649A>G, NM_001322007.1:c.1649A>G, NM_001322004.2:c.1562A>G, NM_001322004.1:c.1562A>G, NM_001322006.2:c.1811A>G, NM_001322006.1:c.1811A>G, NM_001322013.2:c.1394A>G, NM_001322013.1:c.1394A>G, NM_001322008.2:c.1649A>G, NM_001322008.1:c.1649A>G, NM_001322010.2:c.1406A>G, NM_001322010.1:c.1406A>G, NM_001406877.1:c.1658A>G, NM_001406875.1:c.1658A>G, NM_001406882.1:c.1658A>G, NM_001406893.1:c.1562A>G, NM_001406866.1:c.2153A>G, NM_001406897.1:c.1562A>G, NM_001406878.1:c.1658A>G, NM_001406898.1:c.1562A>G, NM_001406891.1:c.1562A>G, NM_001406894.1:c.1562A>G, NM_001406899.1:c.1562A>G, NM_001406880.1:c.1658A>G, NM_001406879.1:c.1658A>G, NM_001406887.1:c.1562A>G, NM_001406868.1:c.1991A>G, NR_136154.1:n.2054A>G, NM_001406890.1:c.1562A>G, NM_001406888.1:c.1562A>G, NM_001406892.1:c.1562A>G, NM_001406889.1:c.1562A>G, NM_001406881.1:c.1658A>G, NM_001406876.1:c.1649A>G, NM_001406900.1:c.1502A>G, NM_001406883.1:c.1649A>G, NM_001406869.1:c.1859A>G, NM_001406905.1:c.1454A>G, NM_001406870.1:c.1811A>G, NM_001406871.1:c.1967A>G, NM_001406906.1:c.1406A>G, NM_001406904.1:c.1454A>G, NM_001406874.1:c.1799A>G, NM_001406872.1:c.1967A>G, NM_001406908.1:c.1562A>G, NM_001406896.1:c.1562A>G, NM_001406895.1:c.1562A>G, NM_001406873.1:c.1769A>G, NM_001406907.1:c.1406A>G, NM_001406909.1:c.1394A>G, NM_001406901.1:c.1493A>G, NM_001406902.1:c.1493A>G, NM_001406903.1:c.1649A>G, NM_001406910.1:c.1562A>G, NM_001406884.1:c.1643A>G, NM_001406885.1:c.1631A>G, NM_001406886.1:c.1601A>G, NM_001406911.1:c.1196A>G, XM_024446800.2:c.1406A>G, NR_003085.2:n.2049A>G, XM_047420482.1:c.2012A>G, XM_047420483.1:c.1961A>G, XM_047420484.1:c.1856A>G, XM_047420485.1:c.1649A>G, XM_047420486.1:c.1034A>G, NM_001018040.1:c.1562A>G, NP_000526.2:p.Glu656Gly, NP_001308938.1:p.Glu521Gly, NP_001308934.1:p.Glu521Gly, NP_001308944.1:p.Glu553Gly, NP_001308943.1:p.Glu656Gly, NP_001308932.1:p.Glu521Gly, NP_001308940.1:p.Glu345Gly, NP_001308941.1:p.Glu345Gly, NP_001308936.1:p.Glu550Gly, NP_001308933.1:p.Glu521Gly, NP_001308935.1:p.Glu604Gly, NP_001308942.1:p.Glu465Gly, NP_001308937.1:p.Glu550Gly, NP_001308939.1:p.Glu469Gly, XP_024302568.1:p.Glu469Gly, XP_047276438.1:p.Glu671Gly, XP_047276439.1:p.Glu654Gly, XP_047276440.1:p.Glu619Gly, XP_047276441.1:p.Glu550Gly, XP_047276442.1:p.Glu345Gly

                    10.

                    rs1479722146 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      7:6002504 (GRCh38)
                      7:6042135 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:6002503:T:C,NC_000007.14:6002503:T:G
                      Gene:
                      PMS2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000051/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000007.14:g.6002504T>C, NC_000007.14:g.6002504T>G, NC_000007.13:g.6042135T>C, NC_000007.13:g.6042135T>G, NG_008466.1:g.11603A>G, NG_008466.1:g.11603A>C, NM_000535.7:c.486A>G, NM_000535.7:c.486A>C, NM_000535.6:c.486A>G, NM_000535.6:c.486A>C, NM_000535.5:c.486A>G, NM_000535.5:c.486A>C, NM_001322009.2:c.81A>G, NM_001322009.2:c.81A>C, NM_001322009.1:c.81A>G, NM_001322009.1:c.81A>C, NM_001322005.2:c.81A>G, NM_001322005.2:c.81A>C, NM_001322005.1:c.81A>G, NM_001322005.1:c.81A>C, NM_001322015.2:c.177A>G, NM_001322015.2:c.177A>C, NM_001322015.1:c.177A>G, NM_001322015.1:c.177A>C, NM_001322014.2:c.486A>G, NM_001322014.2:c.486A>C, NM_001322014.1:c.486A>G, NM_001322014.1:c.486A>C, NM_001322003.2:c.81A>G, NM_001322003.2:c.81A>C, NM_001322003.1:c.81A>G, NM_001322003.1:c.81A>C, NM_001322011.2:c.-399A>G, NM_001322011.2:c.-399A>C, NM_001322011.1:c.-399A>G, NM_001322011.1:c.-399A>C, NM_001322012.2:c.-399A>G, NM_001322012.2:c.-399A>C, NM_001322012.1:c.-399A>G, NM_001322012.1:c.-399A>C, NM_001322007.2:c.168A>G, NM_001322007.2:c.168A>C, NM_001322007.1:c.168A>G, NM_001322007.1:c.168A>C, NM_001322004.2:c.81A>G, NM_001322004.2:c.81A>C, NM_001322004.1:c.81A>G, NM_001322004.1:c.81A>C, NM_001322006.2:c.486A>G, NM_001322006.2:c.486A>C, NM_001322006.1:c.486A>G, NM_001322006.1:c.486A>C, NM_001322013.2:c.81A>G, NM_001322013.2:c.81A>C, NM_001322013.1:c.81A>G, NM_001322013.1:c.81A>C, NM_001322008.2:c.168A>G, NM_001322008.2:c.168A>C, NM_001322008.1:c.168A>G, NM_001322008.1:c.168A>C, NM_001322010.2:c.81A>G, NM_001322010.2:c.81A>C, NM_001322010.1:c.81A>G, NM_001322010.1:c.81A>C, NM_001406877.1:c.177A>G, NM_001406877.1:c.177A>C, NM_001406875.1:c.177A>G, NM_001406875.1:c.177A>C, NM_001406882.1:c.177A>G, NM_001406882.1:c.177A>C, NM_001406893.1:c.81A>G, NM_001406893.1:c.81A>C, NM_001406866.1:c.672A>G, NM_001406866.1:c.672A>C, NM_001406897.1:c.81A>G, NM_001406897.1:c.81A>C, NM_001406878.1:c.177A>G, NM_001406878.1:c.177A>C, NM_001406898.1:c.81A>G, NM_001406898.1:c.81A>C, NM_001406891.1:c.81A>G, NM_001406891.1:c.81A>C, NM_001406894.1:c.81A>G, NM_001406894.1:c.81A>C, NM_001406899.1:c.81A>G, NM_001406899.1:c.81A>C, NM_001406880.1:c.177A>G, NM_001406880.1:c.177A>C, NM_001406879.1:c.177A>G, NM_001406879.1:c.177A>C, NM_001406887.1:c.81A>G, NM_001406887.1:c.81A>C, NM_001406868.1:c.510A>G, NM_001406868.1:c.510A>C, NR_136154.1:n.573A>G, NR_136154.1:n.573A>C, NM_001406890.1:c.81A>G, NM_001406890.1:c.81A>C, NM_001406888.1:c.81A>G, NM_001406888.1:c.81A>C, NM_001406892.1:c.81A>G, NM_001406892.1:c.81A>C, NM_001406889.1:c.81A>G, NM_001406889.1:c.81A>C, NM_001406881.1:c.177A>G, NM_001406881.1:c.177A>C, NM_001406876.1:c.168A>G, NM_001406876.1:c.168A>C, NM_001406900.1:c.177A>G, NM_001406900.1:c.177A>C, NM_001406883.1:c.168A>G, NM_001406883.1:c.168A>C, NM_001406869.1:c.486A>G, NM_001406869.1:c.486A>C, NM_001406905.1:c.81A>G, NM_001406905.1:c.81A>C, NM_001406870.1:c.486A>G, NM_001406870.1:c.486A>C, NM_001406871.1:c.486A>G, NM_001406871.1:c.486A>C, NM_001406906.1:c.81A>G, NM_001406906.1:c.81A>C, NM_001406904.1:c.81A>G, NM_001406904.1:c.81A>C, NM_001406874.1:c.486A>G, NM_001406874.1:c.486A>C, NM_001406872.1:c.486A>G, NM_001406872.1:c.486A>C, NM_001406908.1:c.81A>G, NM_001406908.1:c.81A>C, NM_001406896.1:c.81A>G, NM_001406896.1:c.81A>C, NM_001406895.1:c.81A>G, NM_001406895.1:c.81A>C, NM_001406873.1:c.486A>G, NM_001406873.1:c.486A>C, NM_001406907.1:c.81A>G, NM_001406907.1:c.81A>C, NM_001406909.1:c.81A>G, NM_001406909.1:c.81A>C, NM_001406901.1:c.168A>G, NM_001406901.1:c.168A>C, NM_001406902.1:c.168A>G, NM_001406902.1:c.168A>C, NM_001406903.1:c.168A>G, NM_001406903.1:c.168A>C, NM_001406910.1:c.81A>G, NM_001406910.1:c.81A>C, NM_001406884.1:c.486A>G, NM_001406884.1:c.486A>C, NM_001406886.1:c.486A>G, NM_001406886.1:c.486A>C, NM_001406911.1:c.81A>G, NM_001406911.1:c.81A>C, NM_001406912.1:c.486A>G, NM_001406912.1:c.486A>C, XM_024446800.2:c.81A>G, XM_024446800.2:c.81A>C, NR_003085.2:n.568A>G, NR_003085.2:n.568A>C, XM_047420482.1:c.531A>G, XM_047420482.1:c.531A>C, XM_047420483.1:c.480A>G, XM_047420483.1:c.480A>C, XM_047420484.1:c.531A>G, XM_047420484.1:c.531A>C, XM_047420485.1:c.168A>G, XM_047420485.1:c.168A>C, NM_001018040.1:c.81A>G, NM_001018040.1:c.81A>C, NP_000526.2:p.Leu162Phe, NP_001308938.1:p.Leu27Phe, NP_001308934.1:p.Leu27Phe, NP_001308944.1:p.Leu59Phe, NP_001308943.1:p.Leu162Phe, NP_001308932.1:p.Leu27Phe, NP_001308936.1:p.Leu56Phe, NP_001308933.1:p.Leu27Phe, NP_001308935.1:p.Leu162Phe, NP_001308942.1:p.Leu27Phe, NP_001308937.1:p.Leu56Phe, NP_001308939.1:p.Leu27Phe, XP_024302568.1:p.Leu27Phe, XP_047276438.1:p.Leu177Phe, XP_047276439.1:p.Leu160Phe, XP_047276440.1:p.Leu177Phe, XP_047276441.1:p.Leu56Phe

                      11.

                      rs1478142598 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        GT>- [Show Flanks]
                        Chromosome:
                        7:5978688 (GRCh38)
                        7:6018319 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:5978687:GT:
                        Gene:
                        PMS2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.00693/86 (GoESP)
                        HGVS:
                        NC_000007.14:g.5978688_5978689del, NC_000007.13:g.6018319_6018320del, NG_008466.1:g.35418_35419del, NM_000535.7:c.2182_2183del, NM_000535.6:c.2182_2183del, NM_000535.5:c.2182_2183del, NM_001322009.2:c.1777_1778del, NM_001322009.1:c.1777_1778del, NM_001322005.2:c.1777_1778del, NM_001322005.1:c.1777_1778del, NM_001322015.2:c.1873_1874del, NM_001322015.1:c.1873_1874del, NM_001322014.2:c.2182_2183del, NM_001322014.1:c.2182_2183del, NM_001322003.2:c.1777_1778del, NM_001322003.1:c.1777_1778del, NM_001322011.2:c.1249_1250del, NM_001322011.1:c.1249_1250del, NM_001322012.2:c.1249_1250del, NM_001322012.1:c.1249_1250del, NM_001322007.2:c.1864_1865del, NM_001322007.1:c.1864_1865del, NM_001322004.2:c.1777_1778del, NM_001322004.1:c.1777_1778del, NM_001322006.2:c.2026_2027del, NM_001322006.1:c.2026_2027del, NM_001322013.2:c.1609_1610del, NM_001322013.1:c.1609_1610del, NM_001322008.2:c.1864_1865del, NM_001322008.1:c.1864_1865del, NM_001322010.2:c.1621_1622del, NM_001322010.1:c.1621_1622del, NM_001406877.1:c.1873_1874del, NM_001406875.1:c.1873_1874del, NM_001406882.1:c.1873_1874del, NM_001406893.1:c.1777_1778del, NM_001406866.1:c.2368_2369del, NM_001406897.1:c.1777_1778del, NM_001406878.1:c.1873_1874del, NM_001406898.1:c.1777_1778del, NM_001406891.1:c.1777_1778del, NM_001406894.1:c.1777_1778del, NM_001406899.1:c.1777_1778del, NM_001406880.1:c.1873_1874del, NM_001406879.1:c.1873_1874del, NM_001406887.1:c.1777_1778del, NM_001406868.1:c.2206_2207del, NR_136154.1:n.2269_2270del, NM_001406890.1:c.1777_1778del, NM_001406888.1:c.1777_1778del, NM_001406892.1:c.1777_1778del, NM_001406889.1:c.1777_1778del, NM_001406881.1:c.1873_1874del, NM_001406876.1:c.1864_1865del, NM_001406900.1:c.1717_1718del, NM_001406883.1:c.1864_1865del, NM_001406869.1:c.2074_2075del, NM_001406905.1:c.1669_1670del, NM_001406870.1:c.2026_2027del, NM_001406906.1:c.1621_1622del, NM_001406904.1:c.1669_1670del, NM_001406874.1:c.2014_2015del, NM_001406872.1:c.2014_2015del, NM_001406908.1:c.1609_1610del, NM_001406896.1:c.1777_1778del, NM_001406895.1:c.1777_1778del, NM_001406873.1:c.1984_1985del, NM_001406907.1:c.1621_1622del, NM_001406909.1:c.1609_1610del, NM_001406901.1:c.1708_1709del, NM_001406902.1:c.1708_1709del, NM_001406903.1:c.1696_1697del, NM_001406884.1:c.1858_1859del, NM_001406885.1:c.1846_1847del, NM_001406886.1:c.1816_1817del, NM_001406911.1:c.1411_1412del, NM_001406912.1:c.979_980del, XM_024446800.2:c.1621_1622del, NR_003085.2:n.2264_2265del, XM_047420482.1:c.2227_2228del, XM_047420483.1:c.2176_2177del, XM_047420484.1:c.2071_2072del, XM_047420485.1:c.1864_1865del, XM_047420486.1:c.1249_1250del, NM_001018040.1:c.1777_1778del, NP_000526.2:p.Thr728fs, NP_001308938.1:p.Thr593fs, NP_001308934.1:p.Thr593fs, NP_001308944.1:p.Thr625fs, NP_001308943.1:p.Thr728fs, NP_001308932.1:p.Thr593fs, NP_001308940.1:p.Thr417fs, NP_001308941.1:p.Thr417fs, NP_001308936.1:p.Thr622fs, NP_001308933.1:p.Thr593fs, NP_001308935.1:p.Thr676fs, NP_001308942.1:p.Thr537fs, NP_001308937.1:p.Thr622fs, NP_001308939.1:p.Thr541fs, XP_024302568.1:p.Thr541fs, XP_047276438.1:p.Thr743fs, XP_047276439.1:p.Thr726fs, XP_047276440.1:p.Thr691fs, XP_047276441.1:p.Thr622fs, XP_047276442.1:p.Thr417fs

                        12.

                        rs1476682377 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          7:5978600 (GRCh38)
                          7:6018231 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:5978599:T:C
                          Gene:
                          PMS2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                          Clinical significance:
                          likely-benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000007.14:g.5978600T>C, NC_000007.13:g.6018231T>C, NG_008466.1:g.35507A>G, NM_000535.7:c.2271A>G, NM_000535.6:c.2271A>G, NM_000535.5:c.2271A>G, NM_001322009.2:c.1866A>G, NM_001322009.1:c.1866A>G, NM_001322005.2:c.1866A>G, NM_001322005.1:c.1866A>G, NM_001322015.2:c.1962A>G, NM_001322015.1:c.1962A>G, NM_001322014.2:c.2271A>G, NM_001322014.1:c.2271A>G, NM_001322003.2:c.1866A>G, NM_001322003.1:c.1866A>G, NM_001322011.2:c.1338A>G, NM_001322011.1:c.1338A>G, NM_001322012.2:c.1338A>G, NM_001322012.1:c.1338A>G, NM_001322007.2:c.1953A>G, NM_001322007.1:c.1953A>G, NM_001322004.2:c.1866A>G, NM_001322004.1:c.1866A>G, NM_001322006.2:c.2115A>G, NM_001322006.1:c.2115A>G, NM_001322013.2:c.1698A>G, NM_001322013.1:c.1698A>G, NM_001322008.2:c.1953A>G, NM_001322008.1:c.1953A>G, NM_001322010.2:c.1710A>G, NM_001322010.1:c.1710A>G, NM_001406877.1:c.1962A>G, NM_001406875.1:c.1962A>G, NM_001406882.1:c.1962A>G, NM_001406893.1:c.1866A>G, NM_001406866.1:c.2457A>G, NM_001406897.1:c.1866A>G, NM_001406878.1:c.1962A>G, NM_001406898.1:c.1866A>G, NM_001406891.1:c.1866A>G, NM_001406894.1:c.1866A>G, NM_001406899.1:c.1866A>G, NM_001406880.1:c.1962A>G, NM_001406879.1:c.1962A>G, NM_001406887.1:c.1866A>G, NM_001406868.1:c.2295A>G, NR_136154.1:n.2358A>G, NM_001406890.1:c.1866A>G, NM_001406888.1:c.1866A>G, NM_001406892.1:c.1866A>G, NM_001406889.1:c.1866A>G, NM_001406881.1:c.1962A>G, NM_001406876.1:c.1953A>G, NM_001406900.1:c.1806A>G, NM_001406883.1:c.1953A>G, NM_001406869.1:c.2163A>G, NM_001406905.1:c.1758A>G, NM_001406870.1:c.2115A>G, NM_001406906.1:c.1710A>G, NM_001406904.1:c.1758A>G, NM_001406874.1:c.2103A>G, NM_001406872.1:c.2103A>G, NM_001406908.1:c.1698A>G, NM_001406896.1:c.1866A>G, NM_001406895.1:c.1866A>G, NM_001406873.1:c.2073A>G, NM_001406907.1:c.1710A>G, NM_001406909.1:c.1698A>G, NM_001406901.1:c.1797A>G, NM_001406902.1:c.1797A>G, NM_001406903.1:c.1785A>G, NM_001406884.1:c.1947A>G, NM_001406885.1:c.1935A>G, NM_001406886.1:c.1905A>G, NM_001406911.1:c.1500A>G, NM_001406912.1:c.1068A>G, XM_024446800.2:c.1710A>G, NR_003085.2:n.2353A>G, XM_047420482.1:c.2316A>G, XM_047420483.1:c.2265A>G, XM_047420484.1:c.2160A>G, XM_047420485.1:c.1953A>G, XM_047420486.1:c.1338A>G, NM_001018040.1:c.1866A>G

                          13.

                          rs1473720483 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,T [Show Flanks]
                            Chromosome:
                            7:5987513 (GRCh38)
                            7:6027144 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:5987512:A:C,NC_000007.14:5987512:A:T
                            Gene:
                            PMS2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000007.14:g.5987513A>C, NC_000007.14:g.5987513A>T, NC_000007.13:g.6027144A>C, NC_000007.13:g.6027144A>T, NG_008466.1:g.26594T>G, NG_008466.1:g.26594T>A, NM_000535.7:c.1252T>G, NM_000535.7:c.1252T>A, NM_000535.6:c.1252T>G, NM_000535.6:c.1252T>A, NM_000535.5:c.1252T>G, NM_000535.5:c.1252T>A, NM_001322009.2:c.847T>G, NM_001322009.2:c.847T>A, NM_001322009.1:c.847T>G, NM_001322009.1:c.847T>A, NM_001322005.2:c.847T>G, NM_001322005.2:c.847T>A, NM_001322005.1:c.847T>G, NM_001322005.1:c.847T>A, NM_001322015.2:c.943T>G, NM_001322015.2:c.943T>A, NM_001322015.1:c.943T>G, NM_001322015.1:c.943T>A, NM_001322014.2:c.1252T>G, NM_001322014.2:c.1252T>A, NM_001322014.1:c.1252T>G, NM_001322014.1:c.1252T>A, NM_001322003.2:c.847T>G, NM_001322003.2:c.847T>A, NM_001322003.1:c.847T>G, NM_001322003.1:c.847T>A, NM_001322011.2:c.319T>G, NM_001322011.2:c.319T>A, NM_001322011.1:c.319T>G, NM_001322011.1:c.319T>A, NM_001322012.2:c.319T>G, NM_001322012.2:c.319T>A, NM_001322012.1:c.319T>G, NM_001322012.1:c.319T>A, NM_001322007.2:c.934T>G, NM_001322007.2:c.934T>A, NM_001322007.1:c.934T>G, NM_001322007.1:c.934T>A, NM_001322004.2:c.847T>G, NM_001322004.2:c.847T>A, NM_001322004.1:c.847T>G, NM_001322004.1:c.847T>A, NM_001322006.2:c.1096T>G, NM_001322006.2:c.1096T>A, NM_001322006.1:c.1096T>G, NM_001322006.1:c.1096T>A, NM_001322013.2:c.679T>G, NM_001322013.2:c.679T>A, NM_001322013.1:c.679T>G, NM_001322013.1:c.679T>A, NM_001322008.2:c.934T>G, NM_001322008.2:c.934T>A, NM_001322008.1:c.934T>G, NM_001322008.1:c.934T>A, NM_001322010.2:c.691T>G, NM_001322010.2:c.691T>A, NM_001322010.1:c.691T>G, NM_001322010.1:c.691T>A, NM_001406877.1:c.943T>G, NM_001406877.1:c.943T>A, NM_001406875.1:c.943T>G, NM_001406875.1:c.943T>A, NM_001406882.1:c.943T>G, NM_001406882.1:c.943T>A, NM_001406893.1:c.847T>G, NM_001406893.1:c.847T>A, NM_001406866.1:c.1438T>G, NM_001406866.1:c.1438T>A, NM_001406897.1:c.847T>G, NM_001406897.1:c.847T>A, NM_001406878.1:c.943T>G, NM_001406878.1:c.943T>A, NM_001406898.1:c.847T>G, NM_001406898.1:c.847T>A, NM_001406891.1:c.847T>G, NM_001406891.1:c.847T>A, NM_001406894.1:c.847T>G, NM_001406894.1:c.847T>A, NM_001406899.1:c.847T>G, NM_001406899.1:c.847T>A, NM_001406880.1:c.943T>G, NM_001406880.1:c.943T>A, NM_001406879.1:c.943T>G, NM_001406879.1:c.943T>A, NM_001406887.1:c.847T>G, NM_001406887.1:c.847T>A, NM_001406868.1:c.1276T>G, NM_001406868.1:c.1276T>A, NR_136154.1:n.1339T>G, NR_136154.1:n.1339T>A, NM_001406890.1:c.847T>G, NM_001406890.1:c.847T>A, NM_001406888.1:c.847T>G, NM_001406888.1:c.847T>A, NM_001406892.1:c.847T>G, NM_001406892.1:c.847T>A, NM_001406889.1:c.847T>G, NM_001406889.1:c.847T>A, NM_001406881.1:c.943T>G, NM_001406881.1:c.943T>A, NM_001406876.1:c.934T>G, NM_001406876.1:c.934T>A, NM_001406900.1:c.787T>G, NM_001406900.1:c.787T>A, NM_001406883.1:c.934T>G, NM_001406883.1:c.934T>A, NM_001406869.1:c.1144T>G, NM_001406869.1:c.1144T>A, NM_001406905.1:c.739T>G, NM_001406905.1:c.739T>A, NM_001406870.1:c.1096T>G, NM_001406870.1:c.1096T>A, NM_001406871.1:c.1252T>G, NM_001406871.1:c.1252T>A, NM_001406906.1:c.691T>G, NM_001406906.1:c.691T>A, NM_001406904.1:c.739T>G, NM_001406904.1:c.739T>A, NM_001406874.1:c.1084T>G, NM_001406874.1:c.1084T>A, NM_001406872.1:c.1252T>G, NM_001406872.1:c.1252T>A, NM_001406908.1:c.847T>G, NM_001406908.1:c.847T>A, NM_001406896.1:c.847T>G, NM_001406896.1:c.847T>A, NM_001406895.1:c.847T>G, NM_001406895.1:c.847T>A, NM_001406873.1:c.1054T>G, NM_001406873.1:c.1054T>A, NM_001406907.1:c.691T>G, NM_001406907.1:c.691T>A, NM_001406909.1:c.679T>G, NM_001406909.1:c.679T>A, NM_001406901.1:c.778T>G, NM_001406901.1:c.778T>A, NM_001406902.1:c.778T>G, NM_001406902.1:c.778T>A, NM_001406903.1:c.934T>G, NM_001406903.1:c.934T>A, NM_001406910.1:c.847T>G, NM_001406910.1:c.847T>A, NM_001406884.1:c.928T>G, NM_001406884.1:c.928T>A, NM_001406885.1:c.916T>G, NM_001406885.1:c.916T>A, NM_001406886.1:c.886T>G, NM_001406886.1:c.886T>A, NM_001406911.1:c.481T>G, NM_001406911.1:c.481T>A, XM_024446800.2:c.691T>G, XM_024446800.2:c.691T>A, NR_003085.2:n.1334T>G, NR_003085.2:n.1334T>A, XM_047420482.1:c.1297T>G, XM_047420482.1:c.1297T>A, XM_047420483.1:c.1246T>G, XM_047420483.1:c.1246T>A, XM_047420484.1:c.1141T>G, XM_047420484.1:c.1141T>A, XM_047420485.1:c.934T>G, XM_047420485.1:c.934T>A, XM_047420486.1:c.319T>G, XM_047420486.1:c.319T>A, NM_001018040.1:c.847T>G, NM_001018040.1:c.847T>A, NP_000526.2:p.Ser418Ala, NP_000526.2:p.Ser418Thr, NP_001308938.1:p.Ser283Ala, NP_001308938.1:p.Ser283Thr, NP_001308934.1:p.Ser283Ala, NP_001308934.1:p.Ser283Thr, NP_001308944.1:p.Ser315Ala, NP_001308944.1:p.Ser315Thr, NP_001308943.1:p.Ser418Ala, NP_001308943.1:p.Ser418Thr, NP_001308932.1:p.Ser283Ala, NP_001308932.1:p.Ser283Thr, NP_001308940.1:p.Ser107Ala, NP_001308940.1:p.Ser107Thr, NP_001308941.1:p.Ser107Ala, NP_001308941.1:p.Ser107Thr, NP_001308936.1:p.Ser312Ala, NP_001308936.1:p.Ser312Thr, NP_001308933.1:p.Ser283Ala, NP_001308933.1:p.Ser283Thr, NP_001308935.1:p.Ser366Ala, NP_001308935.1:p.Ser366Thr, NP_001308942.1:p.Ser227Ala, NP_001308942.1:p.Ser227Thr, NP_001308937.1:p.Ser312Ala, NP_001308937.1:p.Ser312Thr, NP_001308939.1:p.Ser231Ala, NP_001308939.1:p.Ser231Thr, XP_024302568.1:p.Ser231Ala, XP_024302568.1:p.Ser231Thr, XP_047276438.1:p.Ser433Ala, XP_047276438.1:p.Ser433Thr, XP_047276439.1:p.Ser416Ala, XP_047276439.1:p.Ser416Thr, XP_047276440.1:p.Ser381Ala, XP_047276440.1:p.Ser381Thr, XP_047276441.1:p.Ser312Ala, XP_047276441.1:p.Ser312Thr, XP_047276442.1:p.Ser107Ala, XP_047276442.1:p.Ser107Thr

                            14.

                            rs1472855482 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:6003728 (GRCh38)
                              7:6043359 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:6003727:G:A
                              Gene:
                              PMS2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                              Clinical significance:
                              likely-benign
                              HGVS:
                              NC_000007.14:g.6003728G>A, NC_000007.13:g.6043359G>A, NG_008466.1:g.10379C>T, NM_000535.7:c.315C>T, NM_000535.6:c.315C>T, NM_000535.5:c.315C>T, NM_001322009.2:c.-91C>T, NM_001322009.1:c.-91C>T, NM_001322005.2:c.-91C>T, NM_001322005.1:c.-91C>T, NM_001322015.2:c.-170C>T, NM_001322015.1:c.-170C>T, NM_001322014.2:c.315C>T, NM_001322014.1:c.315C>T, NM_001322003.2:c.-91C>T, NM_001322003.1:c.-91C>T, NM_001322011.2:c.-570C>T, NM_001322011.1:c.-570C>T, NM_001322012.2:c.-570C>T, NM_001322012.1:c.-570C>T, NM_001322004.2:c.-91C>T, NM_001322004.1:c.-91C>T, NM_001322006.2:c.315C>T, NM_001322006.1:c.315C>T, NM_001322013.2:c.-91C>T, NM_001322013.1:c.-91C>T, NM_001322010.2:c.-91C>T, NM_001322010.1:c.-91C>T, NM_001406877.1:c.-170C>T, NM_001406875.1:c.-170C>T, NM_001406882.1:c.-170C>T, NM_001406893.1:c.-91C>T, NM_001406866.1:c.501C>T, NM_001406897.1:c.-91C>T, NM_001406878.1:c.-170C>T, NM_001406898.1:c.-91C>T, NM_001406891.1:c.-91C>T, NM_001406879.1:c.-170C>T, NM_001406887.1:c.-91C>T, NM_001406868.1:c.339C>T, NR_136154.1:n.402C>T, NM_001406890.1:c.-81C>T, NM_001406869.1:c.315C>T, NM_001406905.1:c.-91C>T, NM_001406870.1:c.315C>T, NM_001406871.1:c.315C>T, NM_001406906.1:c.-91C>T, NM_001406874.1:c.315C>T, NM_001406872.1:c.315C>T, NM_001406908.1:c.-91C>T, NM_001406873.1:c.315C>T, NM_001406910.1:c.-91C>T, NM_001406884.1:c.315C>T, NM_001406886.1:c.315C>T, NM_001406911.1:c.-91C>T, NM_001406912.1:c.315C>T, XM_024446800.2:c.-91C>T, NR_003085.2:n.397C>T, XM_047420482.1:c.360C>T, XM_047420483.1:c.309C>T, XM_047420484.1:c.360C>T, NM_001018040.1:c.-91C>T

                              15.

                              rs1467072152 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G,T [Show Flanks]
                                Chromosome:
                                7:5978671 (GRCh38)
                                7:6018302 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:5978670:C:A,NC_000007.14:5978670:C:G,NC_000007.14:5978670:C:T
                                Gene:
                                PMS2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000007.14:g.5978671C>A, NC_000007.14:g.5978671C>G, NC_000007.14:g.5978671C>T, NC_000007.13:g.6018302C>A, NC_000007.13:g.6018302C>G, NC_000007.13:g.6018302C>T, NG_008466.1:g.35436G>T, NG_008466.1:g.35436G>C, NG_008466.1:g.35436G>A, NM_000535.7:c.2200G>T, NM_000535.7:c.2200G>C, NM_000535.7:c.2200G>A, NM_000535.6:c.2200G>T, NM_000535.6:c.2200G>C, NM_000535.6:c.2200G>A, NM_000535.5:c.2200G>T, NM_000535.5:c.2200G>C, NM_000535.5:c.2200G>A, NM_001322009.2:c.1795G>T, NM_001322009.2:c.1795G>C, NM_001322009.2:c.1795G>A, NM_001322009.1:c.1795G>T, NM_001322009.1:c.1795G>C, NM_001322009.1:c.1795G>A, NM_001322005.2:c.1795G>T, NM_001322005.2:c.1795G>C, NM_001322005.2:c.1795G>A, NM_001322005.1:c.1795G>T, NM_001322005.1:c.1795G>C, NM_001322005.1:c.1795G>A, NM_001322015.2:c.1891G>T, NM_001322015.2:c.1891G>C, NM_001322015.2:c.1891G>A, NM_001322015.1:c.1891G>T, NM_001322015.1:c.1891G>C, NM_001322015.1:c.1891G>A, NM_001322014.2:c.2200G>T, NM_001322014.2:c.2200G>C, NM_001322014.2:c.2200G>A, NM_001322014.1:c.2200G>T, NM_001322014.1:c.2200G>C, NM_001322014.1:c.2200G>A, NM_001322003.2:c.1795G>T, NM_001322003.2:c.1795G>C, NM_001322003.2:c.1795G>A, NM_001322003.1:c.1795G>T, NM_001322003.1:c.1795G>C, NM_001322003.1:c.1795G>A, NM_001322011.2:c.1267G>T, NM_001322011.2:c.1267G>C, NM_001322011.2:c.1267G>A, NM_001322011.1:c.1267G>T, NM_001322011.1:c.1267G>C, NM_001322011.1:c.1267G>A, NM_001322012.2:c.1267G>T, NM_001322012.2:c.1267G>C, NM_001322012.2:c.1267G>A, NM_001322012.1:c.1267G>T, NM_001322012.1:c.1267G>C, NM_001322012.1:c.1267G>A, NM_001322007.2:c.1882G>T, NM_001322007.2:c.1882G>C, NM_001322007.2:c.1882G>A, NM_001322007.1:c.1882G>T, NM_001322007.1:c.1882G>C, NM_001322007.1:c.1882G>A, NM_001322004.2:c.1795G>T, NM_001322004.2:c.1795G>C, NM_001322004.2:c.1795G>A, NM_001322004.1:c.1795G>T, NM_001322004.1:c.1795G>C, NM_001322004.1:c.1795G>A, NM_001322006.2:c.2044G>T, NM_001322006.2:c.2044G>C, NM_001322006.2:c.2044G>A, NM_001322006.1:c.2044G>T, NM_001322006.1:c.2044G>C, NM_001322006.1:c.2044G>A, NM_001322013.2:c.1627G>T, NM_001322013.2:c.1627G>C, NM_001322013.2:c.1627G>A, NM_001322013.1:c.1627G>T, NM_001322013.1:c.1627G>C, NM_001322013.1:c.1627G>A, NM_001322008.2:c.1882G>T, NM_001322008.2:c.1882G>C, NM_001322008.2:c.1882G>A, NM_001322008.1:c.1882G>T, NM_001322008.1:c.1882G>C, NM_001322008.1:c.1882G>A, NM_001322010.2:c.1639G>T, NM_001322010.2:c.1639G>C, NM_001322010.2:c.1639G>A, NM_001322010.1:c.1639G>T, NM_001322010.1:c.1639G>C, NM_001322010.1:c.1639G>A, NM_001406877.1:c.1891G>T, NM_001406877.1:c.1891G>C, NM_001406877.1:c.1891G>A, NM_001406875.1:c.1891G>T, NM_001406875.1:c.1891G>C, NM_001406875.1:c.1891G>A, NM_001406882.1:c.1891G>T, NM_001406882.1:c.1891G>C, NM_001406882.1:c.1891G>A, NM_001406893.1:c.1795G>T, NM_001406893.1:c.1795G>C, NM_001406893.1:c.1795G>A, NM_001406866.1:c.2386G>T, NM_001406866.1:c.2386G>C, NM_001406866.1:c.2386G>A, NM_001406897.1:c.1795G>T, NM_001406897.1:c.1795G>C, NM_001406897.1:c.1795G>A, NM_001406878.1:c.1891G>T, NM_001406878.1:c.1891G>C, NM_001406878.1:c.1891G>A, NM_001406898.1:c.1795G>T, NM_001406898.1:c.1795G>C, NM_001406898.1:c.1795G>A, NM_001406891.1:c.1795G>T, NM_001406891.1:c.1795G>C, NM_001406891.1:c.1795G>A, NM_001406894.1:c.1795G>T, NM_001406894.1:c.1795G>C, NM_001406894.1:c.1795G>A, NM_001406899.1:c.1795G>T, NM_001406899.1:c.1795G>C, NM_001406899.1:c.1795G>A, NM_001406880.1:c.1891G>T, NM_001406880.1:c.1891G>C, NM_001406880.1:c.1891G>A, NM_001406879.1:c.1891G>T, NM_001406879.1:c.1891G>C, NM_001406879.1:c.1891G>A, NM_001406887.1:c.1795G>T, NM_001406887.1:c.1795G>C, NM_001406887.1:c.1795G>A, NM_001406868.1:c.2224G>T, NM_001406868.1:c.2224G>C, NM_001406868.1:c.2224G>A, NR_136154.1:n.2287G>T, NR_136154.1:n.2287G>C, NR_136154.1:n.2287G>A, NM_001406890.1:c.1795G>T, NM_001406890.1:c.1795G>C, NM_001406890.1:c.1795G>A, NM_001406888.1:c.1795G>T, NM_001406888.1:c.1795G>C, NM_001406888.1:c.1795G>A, NM_001406892.1:c.1795G>T, NM_001406892.1:c.1795G>C, NM_001406892.1:c.1795G>A, NM_001406889.1:c.1795G>T, NM_001406889.1:c.1795G>C, NM_001406889.1:c.1795G>A, NM_001406881.1:c.1891G>T, NM_001406881.1:c.1891G>C, NM_001406881.1:c.1891G>A, NM_001406876.1:c.1882G>T, NM_001406876.1:c.1882G>C, NM_001406876.1:c.1882G>A, NM_001406900.1:c.1735G>T, NM_001406900.1:c.1735G>C, NM_001406900.1:c.1735G>A, NM_001406883.1:c.1882G>T, NM_001406883.1:c.1882G>C, NM_001406883.1:c.1882G>A, NM_001406869.1:c.2092G>T, NM_001406869.1:c.2092G>C, NM_001406869.1:c.2092G>A, NM_001406905.1:c.1687G>T, NM_001406905.1:c.1687G>C, NM_001406905.1:c.1687G>A, NM_001406870.1:c.2044G>T, NM_001406870.1:c.2044G>C, NM_001406870.1:c.2044G>A, NM_001406906.1:c.1639G>T, NM_001406906.1:c.1639G>C, NM_001406906.1:c.1639G>A, NM_001406904.1:c.1687G>T, NM_001406904.1:c.1687G>C, NM_001406904.1:c.1687G>A, NM_001406874.1:c.2032G>T, NM_001406874.1:c.2032G>C, NM_001406874.1:c.2032G>A, NM_001406872.1:c.2032G>T, NM_001406872.1:c.2032G>C, NM_001406872.1:c.2032G>A, NM_001406908.1:c.1627G>T, NM_001406908.1:c.1627G>C, NM_001406908.1:c.1627G>A, NM_001406896.1:c.1795G>T, NM_001406896.1:c.1795G>C, NM_001406896.1:c.1795G>A, NM_001406895.1:c.1795G>T, NM_001406895.1:c.1795G>C, NM_001406895.1:c.1795G>A, NM_001406873.1:c.2002G>T, NM_001406873.1:c.2002G>C, NM_001406873.1:c.2002G>A, NM_001406907.1:c.1639G>T, NM_001406907.1:c.1639G>C, NM_001406907.1:c.1639G>A, NM_001406909.1:c.1627G>T, NM_001406909.1:c.1627G>C, NM_001406909.1:c.1627G>A, NM_001406901.1:c.1726G>T, NM_001406901.1:c.1726G>C, NM_001406901.1:c.1726G>A, NM_001406902.1:c.1726G>T, NM_001406902.1:c.1726G>C, NM_001406902.1:c.1726G>A, NM_001406903.1:c.1714G>T, NM_001406903.1:c.1714G>C, NM_001406903.1:c.1714G>A, NM_001406884.1:c.1876G>T, NM_001406884.1:c.1876G>C, NM_001406884.1:c.1876G>A, NM_001406885.1:c.1864G>T, NM_001406885.1:c.1864G>C, NM_001406885.1:c.1864G>A, NM_001406886.1:c.1834G>T, NM_001406886.1:c.1834G>C, NM_001406886.1:c.1834G>A, NM_001406911.1:c.1429G>T, NM_001406911.1:c.1429G>C, NM_001406911.1:c.1429G>A, NM_001406912.1:c.997G>T, NM_001406912.1:c.997G>C, NM_001406912.1:c.997G>A, XM_024446800.2:c.1639G>T, XM_024446800.2:c.1639G>C, XM_024446800.2:c.1639G>A, NR_003085.2:n.2282G>T, NR_003085.2:n.2282G>C, NR_003085.2:n.2282G>A, XM_047420482.1:c.2245G>T, XM_047420482.1:c.2245G>C, XM_047420482.1:c.2245G>A, XM_047420483.1:c.2194G>T, XM_047420483.1:c.2194G>C, XM_047420483.1:c.2194G>A, XM_047420484.1:c.2089G>T, XM_047420484.1:c.2089G>C, XM_047420484.1:c.2089G>A, XM_047420485.1:c.1882G>T, XM_047420485.1:c.1882G>C, XM_047420485.1:c.1882G>A, XM_047420486.1:c.1267G>T, XM_047420486.1:c.1267G>C, XM_047420486.1:c.1267G>A, NM_001018040.1:c.1795G>T, NM_001018040.1:c.1795G>C, NM_001018040.1:c.1795G>A, NP_000526.2:p.Val734Phe, NP_000526.2:p.Val734Leu, NP_000526.2:p.Val734Ile, NP_001308938.1:p.Val599Phe, NP_001308938.1:p.Val599Leu, NP_001308938.1:p.Val599Ile, NP_001308934.1:p.Val599Phe, NP_001308934.1:p.Val599Leu, NP_001308934.1:p.Val599Ile, NP_001308944.1:p.Val631Phe, NP_001308944.1:p.Val631Leu, NP_001308944.1:p.Val631Ile, NP_001308943.1:p.Val734Phe, NP_001308943.1:p.Val734Leu, NP_001308943.1:p.Val734Ile, NP_001308932.1:p.Val599Phe, NP_001308932.1:p.Val599Leu, NP_001308932.1:p.Val599Ile, NP_001308940.1:p.Val423Phe, NP_001308940.1:p.Val423Leu, NP_001308940.1:p.Val423Ile, NP_001308941.1:p.Val423Phe, NP_001308941.1:p.Val423Leu, NP_001308941.1:p.Val423Ile, NP_001308936.1:p.Val628Phe, NP_001308936.1:p.Val628Leu, NP_001308936.1:p.Val628Ile, NP_001308933.1:p.Val599Phe, NP_001308933.1:p.Val599Leu, NP_001308933.1:p.Val599Ile, NP_001308935.1:p.Val682Phe, NP_001308935.1:p.Val682Leu, NP_001308935.1:p.Val682Ile, NP_001308942.1:p.Val543Phe, NP_001308942.1:p.Val543Leu, NP_001308942.1:p.Val543Ile, NP_001308937.1:p.Val628Phe, NP_001308937.1:p.Val628Leu, NP_001308937.1:p.Val628Ile, NP_001308939.1:p.Val547Phe, NP_001308939.1:p.Val547Leu, NP_001308939.1:p.Val547Ile, XP_024302568.1:p.Val547Phe, XP_024302568.1:p.Val547Leu, XP_024302568.1:p.Val547Ile, XP_047276438.1:p.Val749Phe, XP_047276438.1:p.Val749Leu, XP_047276438.1:p.Val749Ile, XP_047276439.1:p.Val732Phe, XP_047276439.1:p.Val732Leu, XP_047276439.1:p.Val732Ile, XP_047276440.1:p.Val697Phe, XP_047276440.1:p.Val697Leu, XP_047276440.1:p.Val697Ile, XP_047276441.1:p.Val628Phe, XP_047276441.1:p.Val628Leu, XP_047276441.1:p.Val628Ile, XP_047276442.1:p.Val423Phe, XP_047276442.1:p.Val423Leu, XP_047276442.1:p.Val423Ile

                                16.

                                rs1465172427 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  7:6004050 (GRCh38)
                                  7:6043681 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:6004049:G:A,NC_000007.14:6004049:G:C
                                  Gene:
                                  PMS2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000007.14:g.6004050G>A, NC_000007.14:g.6004050G>C, NC_000007.13:g.6043681G>A, NC_000007.13:g.6043681G>C, NG_008466.1:g.10057C>T, NG_008466.1:g.10057C>G, NM_000535.7:c.172C>T, NM_000535.7:c.172C>G, NM_000535.6:c.172C>T, NM_000535.6:c.172C>G, NM_000535.5:c.172C>T, NM_000535.5:c.172C>G, NM_001322009.2:c.-234C>T, NM_001322009.2:c.-234C>G, NM_001322009.1:c.-234C>T, NM_001322009.1:c.-234C>G, NM_001322005.2:c.-234C>T, NM_001322005.2:c.-234C>G, NM_001322005.1:c.-234C>T, NM_001322005.1:c.-234C>G, NM_001322015.2:c.-313C>T, NM_001322015.2:c.-313C>G, NM_001322015.1:c.-313C>T, NM_001322015.1:c.-313C>G, NM_001322014.2:c.172C>T, NM_001322014.2:c.172C>G, NM_001322014.1:c.172C>T, NM_001322014.1:c.172C>G, NM_001322003.2:c.-234C>T, NM_001322003.2:c.-234C>G, NM_001322003.1:c.-234C>T, NM_001322003.1:c.-234C>G, NM_001322011.2:c.-713C>T, NM_001322011.2:c.-713C>G, NM_001322011.1:c.-713C>T, NM_001322011.1:c.-713C>G, NM_001322012.2:c.-713C>T, NM_001322012.2:c.-713C>G, NM_001322012.1:c.-713C>T, NM_001322012.1:c.-713C>G, NM_001322007.2:c.-44C>T, NM_001322007.2:c.-44C>G, NM_001322007.1:c.-44C>T, NM_001322007.1:c.-44C>G, NM_001322004.2:c.-234C>T, NM_001322004.2:c.-234C>G, NM_001322004.1:c.-234C>T, NM_001322004.1:c.-234C>G, NM_001322006.2:c.172C>T, NM_001322006.2:c.172C>G, NM_001322006.1:c.172C>T, NM_001322006.1:c.172C>G, NM_001322013.2:c.-234C>T, NM_001322013.2:c.-234C>G, NM_001322013.1:c.-234C>T, NM_001322013.1:c.-234C>G, NM_001322008.2:c.-44C>T, NM_001322008.2:c.-44C>G, NM_001322008.1:c.-44C>T, NM_001322008.1:c.-44C>G, NM_001322010.2:c.-234C>T, NM_001322010.2:c.-234C>G, NM_001322010.1:c.-234C>T, NM_001322010.1:c.-234C>G, NM_001406877.1:c.-313C>T, NM_001406877.1:c.-313C>G, NM_001406875.1:c.-313C>T, NM_001406875.1:c.-313C>G, NM_001406882.1:c.-313C>T, NM_001406882.1:c.-313C>G, NM_001406893.1:c.-234C>T, NM_001406893.1:c.-234C>G, NM_001406866.1:c.358C>T, NM_001406866.1:c.358C>G, NM_001406897.1:c.-234C>T, NM_001406897.1:c.-234C>G, NM_001406878.1:c.-313C>T, NM_001406878.1:c.-313C>G, NM_001406898.1:c.-234C>T, NM_001406898.1:c.-234C>G, NM_001406891.1:c.-234C>T, NM_001406891.1:c.-234C>G, NM_001406894.1:c.-181C>T, NM_001406894.1:c.-181C>G, NM_001406899.1:c.-181C>T, NM_001406899.1:c.-181C>G, NM_001406880.1:c.-260C>T, NM_001406880.1:c.-260C>G, NM_001406879.1:c.-313C>T, NM_001406879.1:c.-313C>G, NM_001406887.1:c.-234C>T, NM_001406887.1:c.-234C>G, NM_001406868.1:c.172C>T, NM_001406868.1:c.172C>G, NR_136154.1:n.259C>T, NR_136154.1:n.259C>G, NM_001406890.1:c.-224C>T, NM_001406890.1:c.-224C>G, NM_001406888.1:c.-181C>T, NM_001406888.1:c.-181C>G, NM_001406892.1:c.-181C>T, NM_001406892.1:c.-181C>G, NM_001406889.1:c.-181C>T, NM_001406889.1:c.-181C>G, NM_001406881.1:c.-210C>T, NM_001406881.1:c.-210C>G, NM_001406876.1:c.-44C>T, NM_001406876.1:c.-44C>G, NM_001406900.1:c.-210C>T, NM_001406900.1:c.-210C>G, NM_001406883.1:c.-44C>T, NM_001406883.1:c.-44C>G, NM_001406869.1:c.172C>T, NM_001406869.1:c.172C>G, NM_001406905.1:c.-234C>T, NM_001406905.1:c.-234C>G, NM_001406870.1:c.172C>T, NM_001406870.1:c.172C>G, NM_001406871.1:c.172C>T, NM_001406871.1:c.172C>G, NM_001406906.1:c.-234C>T, NM_001406906.1:c.-234C>G, NM_001406904.1:c.-181C>T, NM_001406904.1:c.-181C>G, NM_001406874.1:c.172C>T, NM_001406874.1:c.172C>G, NM_001406872.1:c.172C>T, NM_001406872.1:c.172C>G, NM_001406908.1:c.-234C>T, NM_001406908.1:c.-234C>G, NM_001406895.1:c.-181C>T, NM_001406895.1:c.-181C>G, NM_001406873.1:c.172C>T, NM_001406873.1:c.172C>G, NM_001406907.1:c.-181C>T, NM_001406907.1:c.-181C>G, NM_001406909.1:c.-181C>T, NM_001406909.1:c.-181C>G, NM_001406901.1:c.-44C>T, NM_001406901.1:c.-44C>G, NM_001406902.1:c.-44C>T, NM_001406902.1:c.-44C>G, NM_001406903.1:c.-44C>T, NM_001406903.1:c.-44C>G, NM_001406910.1:c.-234C>T, NM_001406910.1:c.-234C>G, NM_001406884.1:c.172C>T, NM_001406884.1:c.172C>G, NM_001406885.1:c.172C>T, NM_001406885.1:c.172C>G, NM_001406886.1:c.172C>T, NM_001406886.1:c.172C>G, NM_001406911.1:c.-234C>T, NM_001406911.1:c.-234C>G, NM_001406912.1:c.172C>T, NM_001406912.1:c.172C>G, XM_024446800.2:c.-234C>T, XM_024446800.2:c.-234C>G, NR_003085.2:n.254C>T, NR_003085.2:n.254C>G, XM_047420482.1:c.217C>T, XM_047420482.1:c.217C>G, XM_047420483.1:c.166C>T, XM_047420483.1:c.166C>G, XM_047420484.1:c.217C>T, XM_047420484.1:c.217C>G, XM_047420485.1:c.-44C>T, XM_047420485.1:c.-44C>G, NM_001018040.1:c.-234C>T, NM_001018040.1:c.-234C>G, NP_000526.2:p.Leu58Phe, NP_000526.2:p.Leu58Val, NP_001308943.1:p.Leu58Phe, NP_001308943.1:p.Leu58Val, NP_001308935.1:p.Leu58Phe, NP_001308935.1:p.Leu58Val, XP_047276438.1:p.Leu73Phe, XP_047276438.1:p.Leu73Val, XP_047276439.1:p.Leu56Phe, XP_047276439.1:p.Leu56Val, XP_047276440.1:p.Leu73Phe, XP_047276440.1:p.Leu73Val

                                  17.

                                  rs1461669945 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    7:5991975 (GRCh38)
                                    7:6031606 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:5991974:G:A,NC_000007.14:5991974:G:C,NC_000007.14:5991974:G:T
                                    Gene:
                                    PMS2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant,stop_gained
                                    Clinical significance:
                                    uncertain-significance,pathogenic
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000007.14:g.5991975G>A, NC_000007.14:g.5991975G>C, NC_000007.14:g.5991975G>T, NC_000007.13:g.6031606G>A, NC_000007.13:g.6031606G>C, NC_000007.13:g.6031606G>T, NG_008466.1:g.22132C>T, NG_008466.1:g.22132C>G, NG_008466.1:g.22132C>A, NM_000535.7:c.986C>T, NM_000535.7:c.986C>G, NM_000535.7:c.986C>A, NM_000535.6:c.986C>T, NM_000535.6:c.986C>G, NM_000535.6:c.986C>A, NM_000535.5:c.986C>T, NM_000535.5:c.986C>G, NM_000535.5:c.986C>A, NM_001322009.2:c.581C>T, NM_001322009.2:c.581C>G, NM_001322009.2:c.581C>A, NM_001322009.1:c.581C>T, NM_001322009.1:c.581C>G, NM_001322009.1:c.581C>A, NM_001322005.2:c.581C>T, NM_001322005.2:c.581C>G, NM_001322005.2:c.581C>A, NM_001322005.1:c.581C>T, NM_001322005.1:c.581C>G, NM_001322005.1:c.581C>A, NM_001322015.2:c.677C>T, NM_001322015.2:c.677C>G, NM_001322015.2:c.677C>A, NM_001322015.1:c.677C>T, NM_001322015.1:c.677C>G, NM_001322015.1:c.677C>A, NM_001322014.2:c.986C>T, NM_001322014.2:c.986C>G, NM_001322014.2:c.986C>A, NM_001322014.1:c.986C>T, NM_001322014.1:c.986C>G, NM_001322014.1:c.986C>A, NM_001322003.2:c.581C>T, NM_001322003.2:c.581C>G, NM_001322003.2:c.581C>A, NM_001322003.1:c.581C>T, NM_001322003.1:c.581C>G, NM_001322003.1:c.581C>A, NM_001322011.2:c.53C>T, NM_001322011.2:c.53C>G, NM_001322011.2:c.53C>A, NM_001322011.1:c.53C>T, NM_001322011.1:c.53C>G, NM_001322011.1:c.53C>A, NM_001322012.2:c.53C>T, NM_001322012.2:c.53C>G, NM_001322012.2:c.53C>A, NM_001322012.1:c.53C>T, NM_001322012.1:c.53C>G, NM_001322012.1:c.53C>A, NM_001322007.2:c.668C>T, NM_001322007.2:c.668C>G, NM_001322007.2:c.668C>A, NM_001322007.1:c.668C>T, NM_001322007.1:c.668C>G, NM_001322007.1:c.668C>A, NM_001322004.2:c.581C>T, NM_001322004.2:c.581C>G, NM_001322004.2:c.581C>A, NM_001322004.1:c.581C>T, NM_001322004.1:c.581C>G, NM_001322004.1:c.581C>A, NM_001322006.2:c.986C>T, NM_001322006.2:c.986C>G, NM_001322006.2:c.986C>A, NM_001322006.1:c.986C>T, NM_001322006.1:c.986C>G, NM_001322006.1:c.986C>A, NM_001322013.2:c.413C>T, NM_001322013.2:c.413C>G, NM_001322013.2:c.413C>A, NM_001322013.1:c.413C>T, NM_001322013.1:c.413C>G, NM_001322013.1:c.413C>A, NM_001322008.2:c.668C>T, NM_001322008.2:c.668C>G, NM_001322008.2:c.668C>A, NM_001322008.1:c.668C>T, NM_001322008.1:c.668C>G, NM_001322008.1:c.668C>A, NM_001322010.2:c.581C>T, NM_001322010.2:c.581C>G, NM_001322010.2:c.581C>A, NM_001322010.1:c.581C>T, NM_001322010.1:c.581C>G, NM_001322010.1:c.581C>A, NM_001406877.1:c.677C>T, NM_001406877.1:c.677C>G, NM_001406877.1:c.677C>A, NM_001406875.1:c.677C>T, NM_001406875.1:c.677C>G, NM_001406875.1:c.677C>A, NM_001406882.1:c.677C>T, NM_001406882.1:c.677C>G, NM_001406882.1:c.677C>A, NM_001406893.1:c.581C>T, NM_001406893.1:c.581C>G, NM_001406893.1:c.581C>A, NM_001406866.1:c.1172C>T, NM_001406866.1:c.1172C>G, NM_001406866.1:c.1172C>A, NM_001406897.1:c.581C>T, NM_001406897.1:c.581C>G, NM_001406897.1:c.581C>A, NM_001406878.1:c.677C>T, NM_001406878.1:c.677C>G, NM_001406878.1:c.677C>A, NM_001406898.1:c.581C>T, NM_001406898.1:c.581C>G, NM_001406898.1:c.581C>A, NM_001406891.1:c.581C>T, NM_001406891.1:c.581C>G, NM_001406891.1:c.581C>A, NM_001406894.1:c.581C>T, NM_001406894.1:c.581C>G, NM_001406894.1:c.581C>A, NM_001406899.1:c.581C>T, NM_001406899.1:c.581C>G, NM_001406899.1:c.581C>A, NM_001406880.1:c.677C>T, NM_001406880.1:c.677C>G, NM_001406880.1:c.677C>A, NM_001406879.1:c.677C>T, NM_001406879.1:c.677C>G, NM_001406879.1:c.677C>A, NM_001406887.1:c.581C>T, NM_001406887.1:c.581C>G, NM_001406887.1:c.581C>A, NM_001406868.1:c.1010C>T, NM_001406868.1:c.1010C>G, NM_001406868.1:c.1010C>A, NR_136154.1:n.1073C>T, NR_136154.1:n.1073C>G, NR_136154.1:n.1073C>A, NM_001406890.1:c.581C>T, NM_001406890.1:c.581C>G, NM_001406890.1:c.581C>A, NM_001406888.1:c.581C>T, NM_001406888.1:c.581C>G, NM_001406888.1:c.581C>A, NM_001406892.1:c.581C>T, NM_001406892.1:c.581C>G, NM_001406892.1:c.581C>A, NM_001406889.1:c.581C>T, NM_001406889.1:c.581C>G, NM_001406889.1:c.581C>A, NM_001406881.1:c.677C>T, NM_001406881.1:c.677C>G, NM_001406881.1:c.677C>A, NM_001406876.1:c.668C>T, NM_001406876.1:c.668C>G, NM_001406876.1:c.668C>A, NM_001406900.1:c.677C>T, NM_001406900.1:c.677C>G, NM_001406900.1:c.677C>A, NM_001406883.1:c.668C>T, NM_001406883.1:c.668C>G, NM_001406883.1:c.668C>A, NM_001406869.1:c.878C>T, NM_001406869.1:c.878C>G, NM_001406869.1:c.878C>A, NM_001406905.1:c.473C>T, NM_001406905.1:c.473C>G, NM_001406905.1:c.473C>A, NM_001406870.1:c.986C>T, NM_001406870.1:c.986C>G, NM_001406870.1:c.986C>A, NM_001406871.1:c.986C>T, NM_001406871.1:c.986C>G, NM_001406871.1:c.986C>A, NM_001406906.1:c.581C>T, NM_001406906.1:c.581C>G, NM_001406906.1:c.581C>A, NM_001406904.1:c.473C>T, NM_001406904.1:c.473C>G, NM_001406904.1:c.473C>A, NM_001406874.1:c.818C>T, NM_001406874.1:c.818C>G, NM_001406874.1:c.818C>A, NM_001406872.1:c.986C>T, NM_001406872.1:c.986C>G, NM_001406872.1:c.986C>A, NM_001406908.1:c.581C>T, NM_001406908.1:c.581C>G, NM_001406908.1:c.581C>A, NM_001406896.1:c.581C>T, NM_001406896.1:c.581C>G, NM_001406896.1:c.581C>A, NM_001406895.1:c.581C>T, NM_001406895.1:c.581C>G, NM_001406895.1:c.581C>A, NM_001406873.1:c.788C>T, NM_001406873.1:c.788C>G, NM_001406873.1:c.788C>A, NM_001406907.1:c.581C>T, NM_001406907.1:c.581C>G, NM_001406907.1:c.581C>A, NM_001406909.1:c.413C>T, NM_001406909.1:c.413C>G, NM_001406909.1:c.413C>A, NM_001406901.1:c.668C>T, NM_001406901.1:c.668C>G, NM_001406901.1:c.668C>A, NM_001406902.1:c.668C>T, NM_001406902.1:c.668C>G, NM_001406902.1:c.668C>A, NM_001406903.1:c.668C>T, NM_001406903.1:c.668C>G, NM_001406903.1:c.668C>A, NM_001406910.1:c.581C>T, NM_001406910.1:c.581C>G, NM_001406910.1:c.581C>A, NM_001406884.1:c.818C>T, NM_001406884.1:c.818C>G, NM_001406884.1:c.818C>A, NM_001406885.1:c.650C>T, NM_001406885.1:c.650C>G, NM_001406885.1:c.650C>A, NM_001406886.1:c.620C>T, NM_001406886.1:c.620C>G, NM_001406886.1:c.620C>A, NM_001406911.1:c.215C>T, NM_001406911.1:c.215C>G, NM_001406911.1:c.215C>A, XM_024446800.2:c.581C>T, XM_024446800.2:c.581C>G, XM_024446800.2:c.581C>A, NR_003085.2:n.1068C>T, NR_003085.2:n.1068C>G, NR_003085.2:n.1068C>A, XM_047420482.1:c.1031C>T, XM_047420482.1:c.1031C>G, XM_047420482.1:c.1031C>A, XM_047420483.1:c.980C>T, XM_047420483.1:c.980C>G, XM_047420483.1:c.980C>A, XM_047420484.1:c.1031C>T, XM_047420484.1:c.1031C>G, XM_047420484.1:c.1031C>A, XM_047420485.1:c.668C>T, XM_047420485.1:c.668C>G, XM_047420485.1:c.668C>A, XM_047420486.1:c.53C>T, XM_047420486.1:c.53C>G, XM_047420486.1:c.53C>A, NM_001018040.1:c.581C>T, NM_001018040.1:c.581C>G, NM_001018040.1:c.581C>A, NP_000526.2:p.Ser329Leu, NP_000526.2:p.Ser329Ter, NP_000526.2:p.Ser329Ter, NP_001308938.1:p.Ser194Leu, NP_001308938.1:p.Ser194Ter, NP_001308938.1:p.Ser194Ter, NP_001308934.1:p.Ser194Leu, NP_001308934.1:p.Ser194Ter, NP_001308934.1:p.Ser194Ter, NP_001308944.1:p.Ser226Leu, NP_001308944.1:p.Ser226Ter, NP_001308944.1:p.Ser226Ter, NP_001308943.1:p.Ser329Leu, NP_001308943.1:p.Ser329Ter, NP_001308943.1:p.Ser329Ter, NP_001308932.1:p.Ser194Leu, NP_001308932.1:p.Ser194Ter, NP_001308932.1:p.Ser194Ter, NP_001308940.1:p.Ser18Leu, NP_001308940.1:p.Ser18Ter, NP_001308940.1:p.Ser18Ter, NP_001308941.1:p.Ser18Leu, NP_001308941.1:p.Ser18Ter, NP_001308941.1:p.Ser18Ter, NP_001308936.1:p.Ser223Leu, NP_001308936.1:p.Ser223Ter, NP_001308936.1:p.Ser223Ter, NP_001308933.1:p.Ser194Leu, NP_001308933.1:p.Ser194Ter, NP_001308933.1:p.Ser194Ter, NP_001308935.1:p.Ser329Leu, NP_001308935.1:p.Ser329Ter, NP_001308935.1:p.Ser329Ter, NP_001308942.1:p.Ser138Leu, NP_001308942.1:p.Ser138Ter, NP_001308942.1:p.Ser138Ter, NP_001308937.1:p.Ser223Leu, NP_001308937.1:p.Ser223Ter, NP_001308937.1:p.Ser223Ter, NP_001308939.1:p.Ser194Leu, NP_001308939.1:p.Ser194Ter, NP_001308939.1:p.Ser194Ter, XP_024302568.1:p.Ser194Leu, XP_024302568.1:p.Ser194Ter, XP_024302568.1:p.Ser194Ter, XP_047276438.1:p.Ser344Leu, XP_047276438.1:p.Ser344Ter, XP_047276438.1:p.Ser344Ter, XP_047276439.1:p.Ser327Leu, XP_047276439.1:p.Ser327Ter, XP_047276439.1:p.Ser327Ter, XP_047276440.1:p.Ser344Leu, XP_047276440.1:p.Ser344Ter, XP_047276440.1:p.Ser344Ter, XP_047276441.1:p.Ser223Leu, XP_047276441.1:p.Ser223Ter, XP_047276441.1:p.Ser223Ter, XP_047276442.1:p.Ser18Leu, XP_047276442.1:p.Ser18Ter, XP_047276442.1:p.Ser18Ter

                                    18.

                                    rs1458424619 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C,G [Show Flanks]
                                      Chromosome:
                                      7:6005993 (GRCh38)
                                      7:6045624 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:6005992:T:A,NC_000007.14:6005992:T:C,NC_000007.14:6005992:T:G
                                      Gene:
                                      PMS2 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000007.14:g.6005993T>A, NC_000007.14:g.6005993T>C, NC_000007.14:g.6005993T>G, NC_000007.13:g.6045624T>A, NC_000007.13:g.6045624T>C, NC_000007.13:g.6045624T>G, NG_008466.1:g.8114A>T, NG_008466.1:g.8114A>G, NG_008466.1:g.8114A>C, NM_000535.7:c.62A>T, NM_000535.7:c.62A>G, NM_000535.7:c.62A>C, NM_000535.6:c.62A>T, NM_000535.6:c.62A>G, NM_000535.6:c.62A>C, NM_000535.5:c.62A>T, NM_000535.5:c.62A>G, NM_000535.5:c.62A>C, NM_001322009.2:c.-344A>T, NM_001322009.2:c.-344A>G, NM_001322009.2:c.-344A>C, NM_001322009.1:c.-344A>T, NM_001322009.1:c.-344A>G, NM_001322009.1:c.-344A>C, NM_001322005.2:c.-344A>T, NM_001322005.2:c.-344A>G, NM_001322005.2:c.-344A>C, NM_001322005.1:c.-344A>T, NM_001322005.1:c.-344A>G, NM_001322005.1:c.-344A>C, NM_001322015.2:c.-423A>T, NM_001322015.2:c.-423A>G, NM_001322015.2:c.-423A>C, NM_001322015.1:c.-423A>T, NM_001322015.1:c.-423A>G, NM_001322015.1:c.-423A>C, NM_001322014.2:c.62A>T, NM_001322014.2:c.62A>G, NM_001322014.2:c.62A>C, NM_001322014.1:c.62A>T, NM_001322014.1:c.62A>G, NM_001322014.1:c.62A>C, NM_001322003.2:c.-344A>T, NM_001322003.2:c.-344A>G, NM_001322003.2:c.-344A>C, NM_001322003.1:c.-344A>T, NM_001322003.1:c.-344A>G, NM_001322003.1:c.-344A>C, NM_001322011.2:c.-823A>T, NM_001322011.2:c.-823A>G, NM_001322011.2:c.-823A>C, NM_001322011.1:c.-823A>T, NM_001322011.1:c.-823A>G, NM_001322011.1:c.-823A>C, NM_001322012.2:c.-823A>T, NM_001322012.2:c.-823A>G, NM_001322012.2:c.-823A>C, NM_001322012.1:c.-823A>T, NM_001322012.1:c.-823A>G, NM_001322012.1:c.-823A>C, NM_001322007.2:c.-154A>T, NM_001322007.2:c.-154A>G, NM_001322007.2:c.-154A>C, NM_001322007.1:c.-154A>T, NM_001322007.1:c.-154A>G, NM_001322007.1:c.-154A>C, NM_001322006.2:c.62A>T, NM_001322006.2:c.62A>G, NM_001322006.2:c.62A>C, NM_001322006.1:c.62A>T, NM_001322006.1:c.62A>G, NM_001322006.1:c.62A>C, NM_001322013.2:c.-344A>T, NM_001322013.2:c.-344A>G, NM_001322013.2:c.-344A>C, NM_001322013.1:c.-344A>T, NM_001322013.1:c.-344A>G, NM_001322013.1:c.-344A>C, NM_001406877.1:c.-423A>T, NM_001406877.1:c.-423A>G, NM_001406877.1:c.-423A>C, NM_001406875.1:c.-423A>T, NM_001406875.1:c.-423A>G, NM_001406875.1:c.-423A>C, NM_001406882.1:c.-423A>T, NM_001406882.1:c.-423A>G, NM_001406882.1:c.-423A>C, NM_001406893.1:c.-344A>T, NM_001406893.1:c.-344A>G, NM_001406893.1:c.-344A>C, NM_001406866.1:c.248A>T, NM_001406866.1:c.248A>G, NM_001406866.1:c.248A>C, NM_001406897.1:c.-344A>T, NM_001406897.1:c.-344A>G, NM_001406897.1:c.-344A>C, NM_001406878.1:c.-423A>T, NM_001406878.1:c.-423A>G, NM_001406878.1:c.-423A>C, NM_001406898.1:c.-344A>T, NM_001406898.1:c.-344A>G, NM_001406898.1:c.-344A>C, NM_001406891.1:c.-344A>T, NM_001406891.1:c.-344A>G, NM_001406891.1:c.-344A>C, NM_001406894.1:c.-291A>T, NM_001406894.1:c.-291A>G, NM_001406894.1:c.-291A>C, NM_001406899.1:c.-291A>T, NM_001406899.1:c.-291A>G, NM_001406899.1:c.-291A>C, NM_001406880.1:c.-370A>T, NM_001406880.1:c.-370A>G, NM_001406880.1:c.-370A>C, NM_001406887.1:c.-344A>T, NM_001406887.1:c.-344A>G, NM_001406887.1:c.-344A>C, NM_001406868.1:c.62A>T, NM_001406868.1:c.62A>G, NM_001406868.1:c.62A>C, NR_136154.1:n.149A>T, NR_136154.1:n.149A>G, NR_136154.1:n.149A>C, NM_001406890.1:c.-334A>T, NM_001406890.1:c.-334A>G, NM_001406890.1:c.-334A>C, NM_001406888.1:c.-291A>T, NM_001406888.1:c.-291A>G, NM_001406888.1:c.-291A>C, NM_001406892.1:c.-291A>T, NM_001406892.1:c.-291A>G, NM_001406892.1:c.-291A>C, NM_001406889.1:c.-291A>T, NM_001406889.1:c.-291A>G, NM_001406889.1:c.-291A>C, NM_001406876.1:c.-154A>T, NM_001406876.1:c.-154A>G, NM_001406876.1:c.-154A>C, NM_001406900.1:c.-320A>T, NM_001406900.1:c.-320A>G, NM_001406900.1:c.-320A>C, NM_001406883.1:c.-154A>T, NM_001406883.1:c.-154A>G, NM_001406883.1:c.-154A>C, NM_001406869.1:c.62A>T, NM_001406869.1:c.62A>G, NM_001406869.1:c.62A>C, NM_001406905.1:c.-344A>T, NM_001406905.1:c.-344A>G, NM_001406905.1:c.-344A>C, NM_001406870.1:c.62A>T, NM_001406870.1:c.62A>G, NM_001406870.1:c.62A>C, NM_001406871.1:c.62A>T, NM_001406871.1:c.62A>G, NM_001406871.1:c.62A>C, NM_001406906.1:c.-344A>T, NM_001406906.1:c.-344A>G, NM_001406906.1:c.-344A>C, NM_001406904.1:c.-291A>T, NM_001406904.1:c.-291A>G, NM_001406904.1:c.-291A>C, NM_001406874.1:c.62A>T, NM_001406874.1:c.62A>G, NM_001406874.1:c.62A>C, NM_001406872.1:c.62A>T, NM_001406872.1:c.62A>G, NM_001406872.1:c.62A>C, NM_001406908.1:c.-344A>T, NM_001406908.1:c.-344A>G, NM_001406908.1:c.-344A>C, NM_001406896.1:c.-154A>T, NM_001406896.1:c.-154A>G, NM_001406896.1:c.-154A>C, NM_001406873.1:c.62A>T, NM_001406873.1:c.62A>G, NM_001406873.1:c.62A>C, NM_001406907.1:c.-291A>T, NM_001406907.1:c.-291A>G, NM_001406907.1:c.-291A>C, NM_001406909.1:c.-291A>T, NM_001406909.1:c.-291A>G, NM_001406909.1:c.-291A>C, NM_001406901.1:c.-154A>T, NM_001406901.1:c.-154A>G, NM_001406901.1:c.-154A>C, NM_001406902.1:c.-154A>T, NM_001406902.1:c.-154A>G, NM_001406902.1:c.-154A>C, NM_001406903.1:c.-154A>T, NM_001406903.1:c.-154A>G, NM_001406903.1:c.-154A>C, NM_001406910.1:c.-344A>T, NM_001406910.1:c.-344A>G, NM_001406910.1:c.-344A>C, NM_001406884.1:c.62A>T, NM_001406884.1:c.62A>G, NM_001406884.1:c.62A>C, NM_001406885.1:c.62A>T, NM_001406885.1:c.62A>G, NM_001406885.1:c.62A>C, NM_001406886.1:c.62A>T, NM_001406886.1:c.62A>G, NM_001406886.1:c.62A>C, NM_001406912.1:c.62A>T, NM_001406912.1:c.62A>G, NM_001406912.1:c.62A>C, NG_050738.1:g.1743T>A, NG_050738.1:g.1743T>C, NG_050738.1:g.1743T>G, XM_024446800.2:c.-344A>T, XM_024446800.2:c.-344A>G, XM_024446800.2:c.-344A>C, NR_003085.2:n.144A>T, NR_003085.2:n.144A>G, NR_003085.2:n.144A>C, XM_047420482.1:c.107A>T, XM_047420482.1:c.107A>G, XM_047420482.1:c.107A>C, XM_047420483.1:c.56A>T, XM_047420483.1:c.56A>G, XM_047420483.1:c.56A>C, XM_047420484.1:c.107A>T, XM_047420484.1:c.107A>G, XM_047420484.1:c.107A>C, XM_047420485.1:c.-154A>T, XM_047420485.1:c.-154A>G, XM_047420485.1:c.-154A>C, NM_001018040.1:c.-344A>T, NM_001018040.1:c.-344A>G, NM_001018040.1:c.-344A>C, NP_000526.2:p.Lys21Met, NP_000526.2:p.Lys21Arg, NP_000526.2:p.Lys21Thr, NP_001308943.1:p.Lys21Met, NP_001308943.1:p.Lys21Arg, NP_001308943.1:p.Lys21Thr, NP_001308935.1:p.Lys21Met, NP_001308935.1:p.Lys21Arg, NP_001308935.1:p.Lys21Thr, XP_047276438.1:p.Lys36Met, XP_047276438.1:p.Lys36Arg, XP_047276438.1:p.Lys36Thr, XP_047276439.1:p.Lys19Met, XP_047276439.1:p.Lys19Arg, XP_047276439.1:p.Lys19Thr, XP_047276440.1:p.Lys36Met, XP_047276440.1:p.Lys36Arg, XP_047276440.1:p.Lys36Thr

                                      19.

                                      rs1458321358 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:5997420 (GRCh38)
                                        7:6037051 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:5997419:G:A
                                        Gene:
                                        PMS2 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,5_prime_UTR_variant,stop_gained,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                                        Clinical significance:
                                        pathogenic,likely-pathogenic
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000084/1 (ALFA)
                                        A=0.000009/1 (GnomAD)
                                        HGVS:
                                        NC_000007.14:g.5997420G>A, NC_000007.13:g.6037051G>A, NG_008466.1:g.16687C>T, NM_000535.7:c.709C>T, NM_000535.6:c.709C>T, NM_000535.5:c.709C>T, NM_001322009.2:c.304C>T, NM_001322009.1:c.304C>T, NM_001322005.2:c.304C>T, NM_001322005.1:c.304C>T, NM_001322015.2:c.400C>T, NM_001322015.1:c.400C>T, NM_001322014.2:c.709C>T, NM_001322014.1:c.709C>T, NM_001322003.2:c.304C>T, NM_001322003.1:c.304C>T, NM_001322011.2:c.-225C>T, NM_001322011.1:c.-225C>T, NM_001322012.2:c.-225C>T, NM_001322012.1:c.-225C>T, NM_001322007.2:c.391C>T, NM_001322007.1:c.391C>T, NM_001322004.2:c.304C>T, NM_001322004.1:c.304C>T, NM_001322006.2:c.709C>T, NM_001322006.1:c.709C>T, NM_001322013.2:c.136C>T, NM_001322013.1:c.136C>T, NM_001322008.2:c.391C>T, NM_001322008.1:c.391C>T, NM_001322010.2:c.304C>T, NM_001322010.1:c.304C>T, NM_001406877.1:c.400C>T, NM_001406875.1:c.400C>T, NM_001406882.1:c.400C>T, NM_001406893.1:c.304C>T, NM_001406866.1:c.895C>T, NM_001406897.1:c.304C>T, NM_001406878.1:c.400C>T, NM_001406898.1:c.304C>T, NM_001406891.1:c.304C>T, NM_001406894.1:c.304C>T, NM_001406899.1:c.304C>T, NM_001406880.1:c.400C>T, NM_001406879.1:c.400C>T, NM_001406887.1:c.304C>T, NM_001406868.1:c.733C>T, NR_136154.1:n.796C>T, NM_001406890.1:c.304C>T, NM_001406888.1:c.304C>T, NM_001406892.1:c.304C>T, NM_001406889.1:c.304C>T, NM_001406881.1:c.400C>T, NM_001406876.1:c.391C>T, NM_001406900.1:c.400C>T, NM_001406883.1:c.391C>T, NM_001406869.1:c.601C>T, NM_001406905.1:c.196C>T, NM_001406870.1:c.709C>T, NM_001406871.1:c.709C>T, NM_001406906.1:c.304C>T, NM_001406904.1:c.196C>T, NM_001406874.1:c.541C>T, NM_001406872.1:c.709C>T, NM_001406908.1:c.304C>T, NM_001406896.1:c.304C>T, NM_001406895.1:c.304C>T, NM_001406907.1:c.304C>T, NM_001406909.1:c.136C>T, NM_001406901.1:c.391C>T, NM_001406902.1:c.391C>T, NM_001406903.1:c.391C>T, NM_001406910.1:c.304C>T, NM_001406884.1:c.541C>T, NM_001406885.1:c.373C>T, NM_001406912.1:c.709C>T, XM_024446800.2:c.304C>T, NR_003085.2:n.791C>T, XM_047420482.1:c.754C>T, XM_047420483.1:c.703C>T, XM_047420484.1:c.754C>T, XM_047420485.1:c.391C>T, NM_001018040.1:c.304C>T, NP_000526.2:p.Gln237Ter, NP_001308938.1:p.Gln102Ter, NP_001308934.1:p.Gln102Ter, NP_001308944.1:p.Gln134Ter, NP_001308943.1:p.Gln237Ter, NP_001308932.1:p.Gln102Ter, NP_001308936.1:p.Gln131Ter, NP_001308933.1:p.Gln102Ter, NP_001308935.1:p.Gln237Ter, NP_001308942.1:p.Gln46Ter, NP_001308937.1:p.Gln131Ter, NP_001308939.1:p.Gln102Ter, XP_024302568.1:p.Gln102Ter, XP_047276438.1:p.Gln252Ter, XP_047276439.1:p.Gln235Ter, XP_047276440.1:p.Gln252Ter, XP_047276441.1:p.Gln131Ter

                                        20.

                                        rs1456057054 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C,T [Show Flanks]
                                          Chromosome:
                                          7:5982831 (GRCh38)
                                          7:6022462 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:5982830:G:A,NC_000007.14:5982830:G:C,NC_000007.14:5982830:G:T
                                          Gene:
                                          PMS2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000007.14:g.5982831G>A, NC_000007.14:g.5982831G>C, NC_000007.14:g.5982831G>T, NC_000007.13:g.6022462G>A, NC_000007.13:g.6022462G>C, NC_000007.13:g.6022462G>T, NG_008466.1:g.31276C>T, NG_008466.1:g.31276C>G, NG_008466.1:g.31276C>A, NM_000535.7:c.2167C>T, NM_000535.7:c.2167C>G, NM_000535.7:c.2167C>A, NM_000535.6:c.2167C>T, NM_000535.6:c.2167C>G, NM_000535.6:c.2167C>A, NM_000535.5:c.2167C>T, NM_000535.5:c.2167C>G, NM_000535.5:c.2167C>A, NM_001322009.2:c.1762C>T, NM_001322009.2:c.1762C>G, NM_001322009.2:c.1762C>A, NM_001322009.1:c.1762C>T, NM_001322009.1:c.1762C>G, NM_001322009.1:c.1762C>A, NM_001322005.2:c.1762C>T, NM_001322005.2:c.1762C>G, NM_001322005.2:c.1762C>A, NM_001322005.1:c.1762C>T, NM_001322005.1:c.1762C>G, NM_001322005.1:c.1762C>A, NM_001322015.2:c.1858C>T, NM_001322015.2:c.1858C>G, NM_001322015.2:c.1858C>A, NM_001322015.1:c.1858C>T, NM_001322015.1:c.1858C>G, NM_001322015.1:c.1858C>A, NM_001322014.2:c.2167C>T, NM_001322014.2:c.2167C>G, NM_001322014.2:c.2167C>A, NM_001322014.1:c.2167C>T, NM_001322014.1:c.2167C>G, NM_001322014.1:c.2167C>A, NM_001322003.2:c.1762C>T, NM_001322003.2:c.1762C>G, NM_001322003.2:c.1762C>A, NM_001322003.1:c.1762C>T, NM_001322003.1:c.1762C>G, NM_001322003.1:c.1762C>A, NM_001322011.2:c.1234C>T, NM_001322011.2:c.1234C>G, NM_001322011.2:c.1234C>A, NM_001322011.1:c.1234C>T, NM_001322011.1:c.1234C>G, NM_001322011.1:c.1234C>A, NM_001322012.2:c.1234C>T, NM_001322012.2:c.1234C>G, NM_001322012.2:c.1234C>A, NM_001322012.1:c.1234C>T, NM_001322012.1:c.1234C>G, NM_001322012.1:c.1234C>A, NM_001322007.2:c.1849C>T, NM_001322007.2:c.1849C>G, NM_001322007.2:c.1849C>A, NM_001322007.1:c.1849C>T, NM_001322007.1:c.1849C>G, NM_001322007.1:c.1849C>A, NM_001322004.2:c.1762C>T, NM_001322004.2:c.1762C>G, NM_001322004.2:c.1762C>A, NM_001322004.1:c.1762C>T, NM_001322004.1:c.1762C>G, NM_001322004.1:c.1762C>A, NM_001322006.2:c.2011C>T, NM_001322006.2:c.2011C>G, NM_001322006.2:c.2011C>A, NM_001322006.1:c.2011C>T, NM_001322006.1:c.2011C>G, NM_001322006.1:c.2011C>A, NM_001322013.2:c.1594C>T, NM_001322013.2:c.1594C>G, NM_001322013.2:c.1594C>A, NM_001322013.1:c.1594C>T, NM_001322013.1:c.1594C>G, NM_001322013.1:c.1594C>A, NM_001322008.2:c.1849C>T, NM_001322008.2:c.1849C>G, NM_001322008.2:c.1849C>A, NM_001322008.1:c.1849C>T, NM_001322008.1:c.1849C>G, NM_001322008.1:c.1849C>A, NM_001322010.2:c.1606C>T, NM_001322010.2:c.1606C>G, NM_001322010.2:c.1606C>A, NM_001322010.1:c.1606C>T, NM_001322010.1:c.1606C>G, NM_001322010.1:c.1606C>A, NM_001406877.1:c.1858C>T, NM_001406877.1:c.1858C>G, NM_001406877.1:c.1858C>A, NM_001406875.1:c.1858C>T, NM_001406875.1:c.1858C>G, NM_001406875.1:c.1858C>A, NM_001406882.1:c.1858C>T, NM_001406882.1:c.1858C>G, NM_001406882.1:c.1858C>A, NM_001406893.1:c.1762C>T, NM_001406893.1:c.1762C>G, NM_001406893.1:c.1762C>A, NM_001406866.1:c.2353C>T, NM_001406866.1:c.2353C>G, NM_001406866.1:c.2353C>A, NM_001406897.1:c.1762C>T, NM_001406897.1:c.1762C>G, NM_001406897.1:c.1762C>A, NM_001406878.1:c.1858C>T, NM_001406878.1:c.1858C>G, NM_001406878.1:c.1858C>A, NM_001406898.1:c.1762C>T, NM_001406898.1:c.1762C>G, NM_001406898.1:c.1762C>A, NM_001406891.1:c.1762C>T, NM_001406891.1:c.1762C>G, NM_001406891.1:c.1762C>A, NM_001406894.1:c.1762C>T, NM_001406894.1:c.1762C>G, NM_001406894.1:c.1762C>A, NM_001406899.1:c.1762C>T, NM_001406899.1:c.1762C>G, NM_001406899.1:c.1762C>A, NM_001406880.1:c.1858C>T, NM_001406880.1:c.1858C>G, NM_001406880.1:c.1858C>A, NM_001406879.1:c.1858C>T, NM_001406879.1:c.1858C>G, NM_001406879.1:c.1858C>A, NM_001406887.1:c.1762C>T, NM_001406887.1:c.1762C>G, NM_001406887.1:c.1762C>A, NM_001406868.1:c.2191C>T, NM_001406868.1:c.2191C>G, NM_001406868.1:c.2191C>A, NR_136154.1:n.2254C>T, NR_136154.1:n.2254C>G, NR_136154.1:n.2254C>A, NM_001406890.1:c.1762C>T, NM_001406890.1:c.1762C>G, NM_001406890.1:c.1762C>A, NM_001406888.1:c.1762C>T, NM_001406888.1:c.1762C>G, NM_001406888.1:c.1762C>A, NM_001406892.1:c.1762C>T, NM_001406892.1:c.1762C>G, NM_001406892.1:c.1762C>A, NM_001406889.1:c.1762C>T, NM_001406889.1:c.1762C>G, NM_001406889.1:c.1762C>A, NM_001406881.1:c.1858C>T, NM_001406881.1:c.1858C>G, NM_001406881.1:c.1858C>A, NM_001406876.1:c.1849C>T, NM_001406876.1:c.1849C>G, NM_001406876.1:c.1849C>A, NM_001406900.1:c.1702C>T, NM_001406900.1:c.1702C>G, NM_001406900.1:c.1702C>A, NM_001406883.1:c.1849C>T, NM_001406883.1:c.1849C>G, NM_001406883.1:c.1849C>A, NM_001406869.1:c.2059C>T, NM_001406869.1:c.2059C>G, NM_001406869.1:c.2059C>A, NM_001406905.1:c.1654C>T, NM_001406905.1:c.1654C>G, NM_001406905.1:c.1654C>A, NM_001406870.1:c.2011C>T, NM_001406870.1:c.2011C>G, NM_001406870.1:c.2011C>A, NM_001406871.1:c.2167C>T, NM_001406871.1:c.2167C>G, NM_001406871.1:c.2167C>A, NM_001406906.1:c.1606C>T, NM_001406906.1:c.1606C>G, NM_001406906.1:c.1606C>A, NM_001406904.1:c.1654C>T, NM_001406904.1:c.1654C>G, NM_001406904.1:c.1654C>A, NM_001406874.1:c.1999C>T, NM_001406874.1:c.1999C>G, NM_001406874.1:c.1999C>A, NM_001406896.1:c.1762C>T, NM_001406896.1:c.1762C>G, NM_001406896.1:c.1762C>A, NM_001406895.1:c.1762C>T, NM_001406895.1:c.1762C>G, NM_001406895.1:c.1762C>A, NM_001406873.1:c.1969C>T, NM_001406873.1:c.1969C>G, NM_001406873.1:c.1969C>A, NM_001406907.1:c.1606C>T, NM_001406907.1:c.1606C>G, NM_001406907.1:c.1606C>A, NM_001406909.1:c.1594C>T, NM_001406909.1:c.1594C>G, NM_001406909.1:c.1594C>A, NM_001406901.1:c.1693C>T, NM_001406901.1:c.1693C>G, NM_001406901.1:c.1693C>A, NM_001406902.1:c.1693C>T, NM_001406902.1:c.1693C>G, NM_001406902.1:c.1693C>A, NM_001406884.1:c.1843C>T, NM_001406884.1:c.1843C>G, NM_001406884.1:c.1843C>A, NM_001406885.1:c.1831C>T, NM_001406885.1:c.1831C>G, NM_001406885.1:c.1831C>A, NM_001406886.1:c.1801C>T, NM_001406886.1:c.1801C>G, NM_001406886.1:c.1801C>A, NM_001406911.1:c.1396C>T, NM_001406911.1:c.1396C>G, NM_001406911.1:c.1396C>A, NM_001406912.1:c.964C>T, NM_001406912.1:c.964C>G, NM_001406912.1:c.964C>A, XM_024446800.2:c.1606C>T, XM_024446800.2:c.1606C>G, XM_024446800.2:c.1606C>A, NR_003085.2:n.2249C>T, NR_003085.2:n.2249C>G, NR_003085.2:n.2249C>A, XM_047420482.1:c.2212C>T, XM_047420482.1:c.2212C>G, XM_047420482.1:c.2212C>A, XM_047420483.1:c.2161C>T, XM_047420483.1:c.2161C>G, XM_047420483.1:c.2161C>A, XM_047420484.1:c.2056C>T, XM_047420484.1:c.2056C>G, XM_047420484.1:c.2056C>A, XM_047420485.1:c.1849C>T, XM_047420485.1:c.1849C>G, XM_047420485.1:c.1849C>A, XM_047420486.1:c.1234C>T, XM_047420486.1:c.1234C>G, XM_047420486.1:c.1234C>A, NM_001018040.1:c.1762C>T, NM_001018040.1:c.1762C>G, NM_001018040.1:c.1762C>A, NP_000526.2:p.Leu723Phe, NP_000526.2:p.Leu723Val, NP_000526.2:p.Leu723Ile, NP_001308938.1:p.Leu588Phe, NP_001308938.1:p.Leu588Val, NP_001308938.1:p.Leu588Ile, NP_001308934.1:p.Leu588Phe, NP_001308934.1:p.Leu588Val, NP_001308934.1:p.Leu588Ile, NP_001308944.1:p.Leu620Phe, NP_001308944.1:p.Leu620Val, NP_001308944.1:p.Leu620Ile, NP_001308943.1:p.Leu723Phe, NP_001308943.1:p.Leu723Val, NP_001308943.1:p.Leu723Ile, NP_001308932.1:p.Leu588Phe, NP_001308932.1:p.Leu588Val, NP_001308932.1:p.Leu588Ile, NP_001308940.1:p.Leu412Phe, NP_001308940.1:p.Leu412Val, NP_001308940.1:p.Leu412Ile, NP_001308941.1:p.Leu412Phe, NP_001308941.1:p.Leu412Val, NP_001308941.1:p.Leu412Ile, NP_001308936.1:p.Leu617Phe, NP_001308936.1:p.Leu617Val, NP_001308936.1:p.Leu617Ile, NP_001308933.1:p.Leu588Phe, NP_001308933.1:p.Leu588Val, NP_001308933.1:p.Leu588Ile, NP_001308935.1:p.Leu671Phe, NP_001308935.1:p.Leu671Val, NP_001308935.1:p.Leu671Ile, NP_001308942.1:p.Leu532Phe, NP_001308942.1:p.Leu532Val, NP_001308942.1:p.Leu532Ile, NP_001308937.1:p.Leu617Phe, NP_001308937.1:p.Leu617Val, NP_001308937.1:p.Leu617Ile, NP_001308939.1:p.Leu536Phe, NP_001308939.1:p.Leu536Val, NP_001308939.1:p.Leu536Ile, XP_024302568.1:p.Leu536Phe, XP_024302568.1:p.Leu536Val, XP_024302568.1:p.Leu536Ile, XP_047276438.1:p.Leu738Phe, XP_047276438.1:p.Leu738Val, XP_047276438.1:p.Leu738Ile, XP_047276439.1:p.Leu721Phe, XP_047276439.1:p.Leu721Val, XP_047276439.1:p.Leu721Ile, XP_047276440.1:p.Leu686Phe, XP_047276440.1:p.Leu686Val, XP_047276440.1:p.Leu686Ile, XP_047276441.1:p.Leu617Phe, XP_047276441.1:p.Leu617Val, XP_047276441.1:p.Leu617Ile, XP_047276442.1:p.Leu412Phe, XP_047276442.1:p.Leu412Val, XP_047276442.1:p.Leu412Ile

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