Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71802997G>ACA5546382CDH23c.7582G>A (p.Val2528Ile)
c.1515G>A (n.1515G>A)
c.1179G>A (n.1179G>A)
c.7597G>A (p.Val2533Ile)
c.862G>A (p.Val288Ile)
n.1118G>A
c.7777G>A (p.Val2593Ile)
c.7711G>A (p.Val2571Ile)
c.7774G>A (p.Val2592Ile)
c.7771G>A (p.Val2591Ile)
c.7717G>A (p.Val2573Ile)
c.7687G>A (p.Val2563Ile)
c.7642G>A (p.Val2548Ile)
c.7237G>A (p.Val2413Ile)
c.6595G>A (p.Val2199Ile)
c.4105G>A (p.Val1369Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802997G>CCA377160702CDH23c.7582G>C (p.Val2528Leu)
c.1515G>C (n.1515G>C)
c.1179G>C (n.1179G>C)
c.7597G>C (p.Val2533Leu)
c.862G>C (p.Val288Leu)
n.1118G>C
c.7777G>C (p.Val2593Leu)
c.7711G>C (p.Val2571Leu)
c.7774G>C (p.Val2592Leu)
c.7771G>C (p.Val2591Leu)
c.7717G>C (p.Val2573Leu)
c.7687G>C (p.Val2563Leu)
c.7642G>C (p.Val2548Leu)
c.7237G>C (p.Val2413Leu)
c.6595G>C (p.Val2199Leu)
c.4105G>C (p.Val1369Leu)
10g.71802997G=CA1918880426CDH23c.7582G= (p.Val2528=)
c.1515G= (n.1515G=)
c.1179G= (n.1179G=)
c.7597G= (p.Val2533=)
c.862G= (p.Val288=)
n.1118G=
c.7777G= (p.Val2593=)
c.7711G= (p.Val2571=)
c.7774G= (p.Val2592=)
c.7771G= (p.Val2591=)
c.7717G= (p.Val2573=)
c.7687G= (p.Val2563=)
c.7642G= (p.Val2548=)
c.7237G= (p.Val2413=)
c.6595G= (p.Val2199=)
c.4105G= (p.Val1369=)
10g.71802997G>TCA377160704CDH23c.7582G>T (p.Val2528Phe)
c.1515G>T (n.1515G>T)
c.1179G>T (n.1179G>T)
c.7597G>T (p.Val2533Phe)
c.862G>T (p.Val288Phe)
n.1118G>T
c.7777G>T (p.Val2593Phe)
c.7711G>T (p.Val2571Phe)
c.7774G>T (p.Val2592Phe)
c.7771G>T (p.Val2591Phe)
c.7717G>T (p.Val2573Phe)
c.7687G>T (p.Val2563Phe)
c.7642G>T (p.Val2548Phe)
c.7237G>T (p.Val2413Phe)
c.6595G>T (p.Val2199Phe)
c.4105G>T (p.Val1369Phe)
10g.71802998T>ACA377160706CDH23c.7583T>A (p.Val2528Asp)
c.1516T>A (n.1516T>A)
c.1180T>A (n.1180T>A)
c.7598T>A (p.Val2533Asp)
c.863T>A (p.Val288Asp)
n.1119T>A
c.7778T>A (p.Val2593Asp)
c.7712T>A (p.Val2571Asp)
c.7775T>A (p.Val2592Asp)
c.7772T>A (p.Val2591Asp)
c.7718T>A (p.Val2573Asp)
c.7688T>A (p.Val2563Asp)
c.7643T>A (p.Val2548Asp)
c.7238T>A (p.Val2413Asp)
c.6596T>A (p.Val2199Asp)
c.4106T>A (p.Val1369Asp)
10g.71802998T>CCA377160708CDH23c.7583T>C (p.Val2528Ala)
c.1516T>C (n.1516T>C)
c.1180T>C (n.1180T>C)
c.7598T>C (p.Val2533Ala)
c.863T>C (p.Val288Ala)
n.1119T>C
c.7778T>C (p.Val2593Ala)
c.7712T>C (p.Val2571Ala)
c.7775T>C (p.Val2592Ala)
c.7772T>C (p.Val2591Ala)
c.7718T>C (p.Val2573Ala)
c.7688T>C (p.Val2563Ala)
c.7643T>C (p.Val2548Ala)
c.7238T>C (p.Val2413Ala)
c.6596T>C (p.Val2199Ala)
c.4106T>C (p.Val1369Ala)
10g.71802998T>GCA377160709CDH23c.7583T>G (p.Val2528Gly)
c.1516T>G (n.1516T>G)
c.1180T>G (n.1180T>G)
c.7598T>G (p.Val2533Gly)
c.863T>G (p.Val288Gly)
n.1119T>G
c.7778T>G (p.Val2593Gly)
c.7712T>G (p.Val2571Gly)
c.7775T>G (p.Val2592Gly)
c.7772T>G (p.Val2591Gly)
c.7718T>G (p.Val2573Gly)
c.7688T>G (p.Val2563Gly)
c.7643T>G (p.Val2548Gly)
c.7238T>G (p.Val2413Gly)
c.6596T>G (p.Val2199Gly)
c.4106T>G (p.Val1369Gly)
10g.71802999C>ACA470062496CDH23c.7584C>A (p.Val2528=)
c.1517C>A (n.1517C>A)
c.1181C>A (n.1181C>A)
c.7599C>A (p.Val2533=)
c.864C>A (p.Val288=)
n.1120C>A
c.7779C>A (p.Val2593=)
c.7713C>A (p.Val2571=)
c.7776C>A (p.Val2592=)
c.7773C>A (p.Val2591=)
c.7719C>A (p.Val2573=)
c.7689C>A (p.Val2563=)
c.7644C>A (p.Val2548=)
c.7239C>A (p.Val2413=)
c.6597C>A (p.Val2199=)
c.4107C>A (p.Val1369=)
10g.71802999C>GCA470062497CDH23c.7584C>G (p.Val2528=)
c.1517C>G (n.1517C>G)
c.1181C>G (n.1181C>G)
c.7599C>G (p.Val2533=)
c.864C>G (p.Val288=)
n.1120C>G
c.7779C>G (p.Val2593=)
c.7713C>G (p.Val2571=)
c.7776C>G (p.Val2592=)
c.7773C>G (p.Val2591=)
c.7719C>G (p.Val2573=)
c.7689C>G (p.Val2563=)
c.7644C>G (p.Val2548=)
c.7239C>G (p.Val2413=)
c.6597C>G (p.Val2199=)
c.4107C>G (p.Val1369=)
10g.71802999C>TCA470062498CDH23c.7584C>T (p.Val2528=)
c.1517C>T (n.1517C>T)
c.1181C>T (n.1181C>T)
c.7599C>T (p.Val2533=)
c.864C>T (p.Val288=)
n.1120C>T
c.7779C>T (p.Val2593=)
c.7713C>T (p.Val2571=)
c.7776C>T (p.Val2592=)
c.7773C>T (p.Val2591=)
c.7719C>T (p.Val2573=)
c.7689C>T (p.Val2563=)
c.7644C>T (p.Val2548=)
c.7239C>T (p.Val2413=)
c.6597C>T (p.Val2199=)
c.4107C>T (p.Val1369=)
10g.71803000A>CCA377160710CDH23c.7585A>C (p.Ile2529Leu)
c.1518A>C (n.1518A>C)
c.1182A>C (n.1182A>C)
c.7600A>C (p.Ile2534Leu)
c.865A>C (p.Ile289Leu)
n.1121A>C
c.7780A>C (p.Ile2594Leu)
c.7714A>C (p.Ile2572Leu)
c.7777A>C (p.Ile2593Leu)
c.7774A>C (p.Ile2592Leu)
c.7720A>C (p.Ile2574Leu)
c.7690A>C (p.Ile2564Leu)
c.7645A>C (p.Ile2549Leu)
c.7240A>C (p.Ile2414Leu)
c.6598A>C (p.Ile2200Leu)
c.4108A>C (p.Ile1370Leu)
10g.71803000A>GCA377160712CDH23c.7585A>G (p.Ile2529Val)
c.1518A>G (n.1518A>G)
c.1182A>G (n.1182A>G)
c.7600A>G (p.Ile2534Val)
c.865A>G (p.Ile289Val)
n.1121A>G
c.7780A>G (p.Ile2594Val)
c.7714A>G (p.Ile2572Val)
c.7777A>G (p.Ile2593Val)
c.7774A>G (p.Ile2592Val)
c.7720A>G (p.Ile2574Val)
c.7690A>G (p.Ile2564Val)
c.7645A>G (p.Ile2549Val)
c.7240A>G (p.Ile2414Val)
c.6598A>G (p.Ile2200Val)
c.4108A>G (p.Ile1370Val)
10g.71803000A>TCA377160711CDH23c.7585A>T (p.Ile2529Phe)
c.1518A>T (n.1518A>T)
c.1182A>T (n.1182A>T)
c.7600A>T (p.Ile2534Phe)
c.865A>T (p.Ile289Phe)
n.1121A>T
c.7780A>T (p.Ile2594Phe)
c.7714A>T (p.Ile2572Phe)
c.7777A>T (p.Ile2593Phe)
c.7774A>T (p.Ile2592Phe)
c.7720A>T (p.Ile2574Phe)
c.7690A>T (p.Ile2564Phe)
c.7645A>T (p.Ile2549Phe)
c.7240A>T (p.Ile2414Phe)
c.6598A>T (p.Ile2200Phe)
c.4108A>T (p.Ile1370Phe)
10g.71803001T>ACA377160713CDH23c.7586T>A (p.Ile2529Asn)
c.1519T>A (n.1519T>A)
c.1183T>A (n.1183T>A)
c.7601T>A (p.Ile2534Asn)
c.866T>A (p.Ile289Asn)
n.1122T>A
c.7781T>A (p.Ile2594Asn)
c.7715T>A (p.Ile2572Asn)
c.7778T>A (p.Ile2593Asn)
c.7775T>A (p.Ile2592Asn)
c.7721T>A (p.Ile2574Asn)
c.7691T>A (p.Ile2564Asn)
c.7646T>A (p.Ile2549Asn)
c.7241T>A (p.Ile2414Asn)
c.6599T>A (p.Ile2200Asn)
c.4109T>A (p.Ile1370Asn)
10g.71803001T>CCA377160714CDH23c.7586T>C (p.Ile2529Thr)
c.1519T>C (n.1519T>C)
c.1183T>C (n.1183T>C)
c.7601T>C (p.Ile2534Thr)
c.866T>C (p.Ile289Thr)
n.1122T>C
c.7781T>C (p.Ile2594Thr)
c.7715T>C (p.Ile2572Thr)
c.7778T>C (p.Ile2593Thr)
c.7775T>C (p.Ile2592Thr)
c.7721T>C (p.Ile2574Thr)
c.7691T>C (p.Ile2564Thr)
c.7646T>C (p.Ile2549Thr)
c.7241T>C (p.Ile2414Thr)
c.6599T>C (p.Ile2200Thr)
c.4109T>C (p.Ile1370Thr)
10g.71803001T>GCA377160715CDH23c.7586T>G (p.Ile2529Ser)
c.1519T>G (n.1519T>G)
c.1183T>G (n.1183T>G)
c.7601T>G (p.Ile2534Ser)
c.866T>G (p.Ile289Ser)
n.1122T>G
c.7781T>G (p.Ile2594Ser)
c.7715T>G (p.Ile2572Ser)
c.7778T>G (p.Ile2593Ser)
c.7775T>G (p.Ile2592Ser)
c.7721T>G (p.Ile2574Ser)
c.7691T>G (p.Ile2564Ser)
c.7646T>G (p.Ile2549Ser)
c.7241T>G (p.Ile2414Ser)
c.6599T>G (p.Ile2200Ser)
c.4109T>G (p.Ile1370Ser)
10g.71803002C>ACA470062499CDH23c.7587C>A (p.Ile2529=)
c.1520C>A (n.1520C>A)
c.1184C>A (n.1184C>A)
c.7602C>A (p.Ile2534=)
c.867C>A (p.Ile289=)
n.1123C>A
c.7782C>A (p.Ile2594=)
c.7716C>A (p.Ile2572=)
c.7779C>A (p.Ile2593=)
c.7776C>A (p.Ile2592=)
c.7722C>A (p.Ile2574=)
c.7692C>A (p.Ile2564=)
c.7647C>A (p.Ile2549=)
c.7242C>A (p.Ile2414=)
c.6600C>A (p.Ile2200=)
c.4110C>A (p.Ile1370=)
10g.71803002C=CA1918880427CDH23c.7587C= (p.Ile2529=)
c.1520C= (n.1520C=)
c.1184C= (n.1184C=)
c.7602C= (p.Ile2534=)
c.867C= (p.Ile289=)
n.1123C=
c.7782C= (p.Ile2594=)
c.7716C= (p.Ile2572=)
c.7779C= (p.Ile2593=)
c.7776C= (p.Ile2592=)
c.7722C= (p.Ile2574=)
c.7692C= (p.Ile2564=)
c.7647C= (p.Ile2549=)
c.7242C= (p.Ile2414=)
c.6600C= (p.Ile2200=)
c.4110C= (p.Ile1370=)
10g.71803002C>GCA377160717CDH23c.7587C>G (p.Ile2529Met)
c.1520C>G (n.1520C>G)
c.1184C>G (n.1184C>G)
c.7602C>G (p.Ile2534Met)
c.867C>G (p.Ile289Met)
n.1123C>G
c.7782C>G (p.Ile2594Met)
c.7716C>G (p.Ile2572Met)
c.7779C>G (p.Ile2593Met)
c.7776C>G (p.Ile2592Met)
c.7722C>G (p.Ile2574Met)
c.7692C>G (p.Ile2564Met)
c.7647C>G (p.Ile2549Met)
c.7242C>G (p.Ile2414Met)
c.6600C>G (p.Ile2200Met)
c.4110C>G (p.Ile1370Met)
10g.71803002C>TCA470062500CDH23c.7587C>T (p.Ile2529=)
c.1520C>T (n.1520C>T)
c.1184C>T (n.1184C>T)
c.7602C>T (p.Ile2534=)
c.867C>T (p.Ile289=)
n.1123C>T
c.7782C>T (p.Ile2594=)
c.7716C>T (p.Ile2572=)
c.7779C>T (p.Ile2593=)
c.7776C>T (p.Ile2592=)
c.7722C>T (p.Ile2574=)
c.7692C>T (p.Ile2564=)
c.7647C>T (p.Ile2549=)
c.7242C>T (p.Ile2414=)
c.6600C>T (p.Ile2200=)
c.4110C>T (p.Ile1370=)
 dbSNP
10g.71803003A>CCA377160721CDH23c.7588A>C (p.Thr2530Pro)
c.1521A>C (n.1521A>C)
c.1185A>C (n.1185A>C)
c.7603A>C (p.Thr2535Pro)
c.868A>C (p.Thr290Pro)
n.1124A>C
c.7783A>C (p.Thr2595Pro)
c.7717A>C (p.Thr2573Pro)
c.7780A>C (p.Thr2594Pro)
c.7777A>C (p.Thr2593Pro)
c.7723A>C (p.Thr2575Pro)
c.7693A>C (p.Thr2565Pro)
c.7648A>C (p.Thr2550Pro)
c.7243A>C (p.Thr2415Pro)
c.6601A>C (p.Thr2201Pro)
c.4111A>C (p.Thr1371Pro)
10g.71803003A>GCA377160719CDH23c.7588A>G (p.Thr2530Ala)
c.1521A>G (n.1521A>G)
c.1185A>G (n.1185A>G)
c.7603A>G (p.Thr2535Ala)
c.868A>G (p.Thr290Ala)
n.1124A>G
c.7783A>G (p.Thr2595Ala)
c.7717A>G (p.Thr2573Ala)
c.7780A>G (p.Thr2594Ala)
c.7777A>G (p.Thr2593Ala)
c.7723A>G (p.Thr2575Ala)
c.7693A>G (p.Thr2565Ala)
c.7648A>G (p.Thr2550Ala)
c.7243A>G (p.Thr2415Ala)
c.6601A>G (p.Thr2201Ala)
c.4111A>G (p.Thr1371Ala)
10g.71803003A>TCA377160720CDH23c.7588A>T (p.Thr2530Ser)
c.1521A>T (n.1521A>T)
c.1185A>T (n.1185A>T)
c.7603A>T (p.Thr2535Ser)
c.868A>T (p.Thr290Ser)
n.1124A>T
c.7783A>T (p.Thr2595Ser)
c.7717A>T (p.Thr2573Ser)
c.7780A>T (p.Thr2594Ser)
c.7777A>T (p.Thr2593Ser)
c.7723A>T (p.Thr2575Ser)
c.7693A>T (p.Thr2565Ser)
c.7648A>T (p.Thr2550Ser)
c.7243A>T (p.Thr2415Ser)
c.6601A>T (p.Thr2201Ser)
c.4111A>T (p.Thr1371Ser)
10g.71803004C>ACA377160722CDH23c.7589C>A (p.Thr2530Asn)
c.1522C>A (n.1522C>A)
c.1186C>A (n.1186C>A)
c.7604C>A (p.Thr2535Asn)
c.869C>A (p.Thr290Asn)
n.1125C>A
c.7784C>A (p.Thr2595Asn)
c.7718C>A (p.Thr2573Asn)
c.7781C>A (p.Thr2594Asn)
c.7778C>A (p.Thr2593Asn)
c.7724C>A (p.Thr2575Asn)
c.7694C>A (p.Thr2565Asn)
c.7649C>A (p.Thr2550Asn)
c.7244C>A (p.Thr2415Asn)
c.6602C>A (p.Thr2201Asn)
c.4112C>A (p.Thr1371Asn)
10g.71803004C=CA1918880428CDH23c.7589C= (p.Thr2530=)
c.1522C= (n.1522C=)
c.1186C= (n.1186C=)
c.7604C= (p.Thr2535=)
c.869C= (p.Thr290=)
n.1125C=
c.7784C= (p.Thr2595=)
c.7718C= (p.Thr2573=)
c.7781C= (p.Thr2594=)
c.7778C= (p.Thr2593=)
c.7724C= (p.Thr2575=)
c.7694C= (p.Thr2565=)
c.7649C= (p.Thr2550=)
c.7244C= (p.Thr2415=)
c.6602C= (p.Thr2201=)
c.4112C= (p.Thr1371=)
10g.71803004C>GCA377160723CDH23c.7589C>G (p.Thr2530Ser)
c.1522C>G (n.1522C>G)
c.1186C>G (n.1186C>G)
c.7604C>G (p.Thr2535Ser)
c.869C>G (p.Thr290Ser)
n.1125C>G
c.7784C>G (p.Thr2595Ser)
c.7718C>G (p.Thr2573Ser)
c.7781C>G (p.Thr2594Ser)
c.7778C>G (p.Thr2593Ser)
c.7724C>G (p.Thr2575Ser)
c.7694C>G (p.Thr2565Ser)
c.7649C>G (p.Thr2550Ser)
c.7244C>G (p.Thr2415Ser)
c.6602C>G (p.Thr2201Ser)
c.4112C>G (p.Thr1371Ser)
10g.71803004C>TCA5546383CDH23c.7589C>T (p.Thr2530Ile)
c.1522C>T (n.1522C>T)
c.1186C>T (n.1186C>T)
c.7604C>T (p.Thr2535Ile)
c.869C>T (p.Thr290Ile)
n.1125C>T
c.7784C>T (p.Thr2595Ile)
c.7718C>T (p.Thr2573Ile)
c.7781C>T (p.Thr2594Ile)
c.7778C>T (p.Thr2593Ile)
c.7724C>T (p.Thr2575Ile)
c.7694C>T (p.Thr2565Ile)
c.7649C>T (p.Thr2550Ile)
c.7244C>T (p.Thr2415Ile)
c.6602C>T (p.Thr2201Ile)
c.4112C>T (p.Thr1371Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71803005C>ACA5546384CDH23c.7590C>A (p.Thr2530=)
c.1523C>A (n.1523C>A)
c.1187C>A (n.1187C>A)
c.7605C>A (p.Thr2535=)
c.870C>A (p.Thr290=)
n.1126C>A
c.7785C>A (p.Thr2595=)
c.7719C>A (p.Thr2573=)
c.7782C>A (p.Thr2594=)
c.7779C>A (p.Thr2593=)
c.7725C>A (p.Thr2575=)
c.7695C>A (p.Thr2565=)
c.7650C>A (p.Thr2550=)
c.7245C>A (p.Thr2415=)
c.6603C>A (p.Thr2201=)
c.4113C>A (p.Thr1371=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71803005C=CA1918880429CDH23c.7590C= (p.Thr2530=)
c.1523C= (n.1523C=)
c.1187C= (n.1187C=)
c.7605C= (p.Thr2535=)
c.870C= (p.Thr290=)
n.1126C=
c.7785C= (p.Thr2595=)
c.7719C= (p.Thr2573=)
c.7782C= (p.Thr2594=)
c.7779C= (p.Thr2593=)
c.7725C= (p.Thr2575=)
c.7695C= (p.Thr2565=)
c.7650C= (p.Thr2550=)
c.7245C= (p.Thr2415=)
c.6603C= (p.Thr2201=)
c.4113C= (p.Thr1371=)
10g.71803005C>GCA470062502CDH23c.7590C>G (p.Thr2530=)
c.1523C>G (n.1523C>G)
c.1187C>G (n.1187C>G)
c.7605C>G (p.Thr2535=)
c.870C>G (p.Thr290=)
n.1126C>G
c.7785C>G (p.Thr2595=)
c.7719C>G (p.Thr2573=)
c.7782C>G (p.Thr2594=)
c.7779C>G (p.Thr2593=)
c.7725C>G (p.Thr2575=)
c.7695C>G (p.Thr2565=)
c.7650C>G (p.Thr2550=)
c.7245C>G (p.Thr2415=)
c.6603C>G (p.Thr2201=)
c.4113C>G (p.Thr1371=)
10g.71803005C>TCA470062501CDH23c.7590C>T (p.Thr2530=)
c.1523C>T (n.1523C>T)
c.1187C>T (n.1187C>T)
c.7605C>T (p.Thr2535=)
c.870C>T (p.Thr290=)
n.1126C>T
c.7785C>T (p.Thr2595=)
c.7719C>T (p.Thr2573=)
c.7782C>T (p.Thr2594=)
c.7779C>T (p.Thr2593=)
c.7725C>T (p.Thr2575=)
c.7695C>T (p.Thr2565=)
c.7650C>T (p.Thr2550=)
c.7245C>T (p.Thr2415=)
c.6603C>T (p.Thr2201=)
c.4113C>T (p.Thr1371=)
 dbSNP gnomAD v3 gnomAD v4
10g.71803006A=CA1918880430CDH23c.7591A= (p.Met2531=)
c.1524A= (n.1524A=)
c.1188A= (n.1188A=)
c.7606A= (p.Met2536=)
c.871A= (p.Met291=)
n.1127A=
c.7786A= (p.Met2596=)
c.7720A= (p.Met2574=)
c.7783A= (p.Met2595=)
c.7780A= (p.Met2594=)
c.7726A= (p.Met2576=)
c.7696A= (p.Met2566=)
c.7651A= (p.Met2551=)
c.7246A= (p.Met2416=)
c.6604A= (p.Met2202=)
c.4114A= (p.Met1372=)
10g.71803006A>CCA377160726CDH23c.7591A>C (p.Met2531Leu)
c.1524A>C (n.1524A>C)
c.1188A>C (n.1188A>C)
c.7606A>C (p.Met2536Leu)
c.871A>C (p.Met291Leu)
n.1127A>C
c.7786A>C (p.Met2596Leu)
c.7720A>C (p.Met2574Leu)
c.7783A>C (p.Met2595Leu)
c.7780A>C (p.Met2594Leu)
c.7726A>C (p.Met2576Leu)
c.7696A>C (p.Met2566Leu)
c.7651A>C (p.Met2551Leu)
c.7246A>C (p.Met2416Leu)
c.6604A>C (p.Met2202Leu)
c.4114A>C (p.Met1372Leu)
10g.71803006A>GCA5546385CDH23c.7591A>G (p.Met2531Val)
c.1524A>G (n.1524A>G)
c.1188A>G (n.1188A>G)
c.7606A>G (p.Met2536Val)
c.871A>G (p.Met291Val)
n.1127A>G
c.7786A>G (p.Met2596Val)
c.7720A>G (p.Met2574Val)
c.7783A>G (p.Met2595Val)
c.7780A>G (p.Met2594Val)
c.7726A>G (p.Met2576Val)
c.7696A>G (p.Met2566Val)
c.7651A>G (p.Met2551Val)
c.7246A>G (p.Met2416Val)
c.6604A>G (p.Met2202Val)
c.4114A>G (p.Met1372Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71803006A>TCA377160729CDH23c.7591A>T (p.Met2531Leu)
c.1524A>T (n.1524A>T)
c.1188A>T (n.1188A>T)
c.7606A>T (p.Met2536Leu)
c.871A>T (p.Met291Leu)
n.1127A>T
c.7786A>T (p.Met2596Leu)
c.7720A>T (p.Met2574Leu)
c.7783A>T (p.Met2595Leu)
c.7780A>T (p.Met2594Leu)
c.7726A>T (p.Met2576Leu)
c.7696A>T (p.Met2566Leu)
c.7651A>T (p.Met2551Leu)
c.7246A>T (p.Met2416Leu)
c.6604A>T (p.Met2202Leu)
c.4114A>T (p.Met1372Leu)
10g.71803007T>ACA377160731CDH23c.7592T>A (p.Met2531Lys)
c.1525T>A (n.1525T>A)
c.1189T>A (n.1189T>A)
c.7607T>A (p.Met2536Lys)
c.872T>A (p.Met291Lys)
n.1128T>A
c.7787T>A (p.Met2596Lys)
c.7721T>A (p.Met2574Lys)
c.7784T>A (p.Met2595Lys)
c.7781T>A (p.Met2594Lys)
c.7727T>A (p.Met2576Lys)
c.7697T>A (p.Met2566Lys)
c.7652T>A (p.Met2551Lys)
c.7247T>A (p.Met2416Lys)
c.6605T>A (p.Met2202Lys)
c.4115T>A (p.Met1372Lys)
10g.71803007T>CCA377160733CDH23c.7592T>C (p.Met2531Thr)
c.1525T>C (n.1525T>C)
c.1189T>C (n.1189T>C)
c.7607T>C (p.Met2536Thr)
c.872T>C (p.Met291Thr)
n.1128T>C
c.7787T>C (p.Met2596Thr)
c.7721T>C (p.Met2574Thr)
c.7784T>C (p.Met2595Thr)
c.7781T>C (p.Met2594Thr)
c.7727T>C (p.Met2576Thr)
c.7697T>C (p.Met2566Thr)
c.7652T>C (p.Met2551Thr)
c.7247T>C (p.Met2416Thr)
c.6605T>C (p.Met2202Thr)
c.4115T>C (p.Met1372Thr)
10g.71803007T>GCA377160738CDH23c.7592T>G (p.Met2531Arg)
c.1525T>G (n.1525T>G)
c.1189T>G (n.1189T>G)
c.7607T>G (p.Met2536Arg)
c.872T>G (p.Met291Arg)
n.1128T>G
c.7787T>G (p.Met2596Arg)
c.7721T>G (p.Met2574Arg)
c.7784T>G (p.Met2595Arg)
c.7781T>G (p.Met2594Arg)
c.7727T>G (p.Met2576Arg)
c.7697T>G (p.Met2566Arg)
c.7652T>G (p.Met2551Arg)
c.7247T>G (p.Met2416Arg)
c.6605T>G (p.Met2202Arg)
c.4115T>G (p.Met1372Arg)
10g.71803008G>ACA377160741CDH23c.7593G>A (p.Met2531Ile)
c.1526G>A (n.1526G>A)
c.1190G>A (n.1190G>A)
c.7608G>A (p.Met2536Ile)
c.873G>A (p.Met291Ile)
n.1129G>A
c.7788G>A (p.Met2596Ile)
c.7722G>A (p.Met2574Ile)
c.7785G>A (p.Met2595Ile)
c.7782G>A (p.Met2594Ile)
c.7728G>A (p.Met2576Ile)
c.7698G>A (p.Met2566Ile)
c.7653G>A (p.Met2551Ile)
c.7248G>A (p.Met2416Ile)
c.6606G>A (p.Met2202Ile)
c.4116G>A (p.Met1372Ile)
 dbSNP gnomAD v4
10g.71803008G>CCA377160743CDH23c.7593G>C (p.Met2531Ile)
c.1526G>C (n.1526G>C)
c.1190G>C (n.1190G>C)
c.7608G>C (p.Met2536Ile)
c.873G>C (p.Met291Ile)
n.1129G>C
c.7788G>C (p.Met2596Ile)
c.7722G>C (p.Met2574Ile)
c.7785G>C (p.Met2595Ile)
c.7782G>C (p.Met2594Ile)
c.7728G>C (p.Met2576Ile)
c.7698G>C (p.Met2566Ile)
c.7653G>C (p.Met2551Ile)
c.7248G>C (p.Met2416Ile)
c.6606G>C (p.Met2202Ile)
c.4116G>C (p.Met1372Ile)
 dbSNP gnomAD v3 gnomAD v4
10g.71803008G=CA1918880431CDH23c.7593G= (p.Met2531=)
c.1526G= (n.1526G=)
c.1190G= (n.1190G=)
c.7608G= (p.Met2536=)
c.873G= (p.Met291=)
n.1129G=
c.7788G= (p.Met2596=)
c.7722G= (p.Met2574=)
c.7785G= (p.Met2595=)
c.7782G= (p.Met2594=)
c.7728G= (p.Met2576=)
c.7698G= (p.Met2566=)
c.7653G= (p.Met2551=)
c.7248G= (p.Met2416=)
c.6606G= (p.Met2202=)
c.4116G= (p.Met1372=)
10g.71803008G>TCA377160745CDH23c.7593G>T (p.Met2531Ile)
c.1526G>T (n.1526G>T)
c.1190G>T (n.1190G>T)
c.7608G>T (p.Met2536Ile)
c.873G>T (p.Met291Ile)
n.1129G>T
c.7788G>T (p.Met2596Ile)
c.7722G>T (p.Met2574Ile)
c.7785G>T (p.Met2595Ile)
c.7782G>T (p.Met2594Ile)
c.7728G>T (p.Met2576Ile)
c.7698G>T (p.Met2566Ile)
c.7653G>T (p.Met2551Ile)
c.7248G>T (p.Met2416Ile)
c.6606G>T (p.Met2202Ile)
c.4116G>T (p.Met1372Ile)
 dbSNP gnomAD v2 gnomAD v4
10g.71803009A>CCA377160751CDH23c.7594A>C (p.Met2532Leu)
c.1527A>C (n.1527A>C)
c.1191A>C (n.1191A>C)
c.7609A>C (p.Met2537Leu)
c.874A>C (p.Met292Leu)
n.1130A>C
c.7789A>C (p.Met2597Leu)
c.7723A>C (p.Met2575Leu)
c.7786A>C (p.Met2596Leu)
c.7783A>C (p.Met2595Leu)
c.7729A>C (p.Met2577Leu)
c.7699A>C (p.Met2567Leu)
c.7654A>C (p.Met2552Leu)
c.7249A>C (p.Met2417Leu)
c.6607A>C (p.Met2203Leu)
c.4117A>C (p.Met1373Leu)
10g.71803009A>GCA377160747CDH23c.7594A>G (p.Met2532Val)
c.1527A>G (n.1527A>G)
c.1191A>G (n.1191A>G)
c.7609A>G (p.Met2537Val)
c.874A>G (p.Met292Val)
n.1130A>G
c.7789A>G (p.Met2597Val)
c.7723A>G (p.Met2575Val)
c.7786A>G (p.Met2596Val)
c.7783A>G (p.Met2595Val)
c.7729A>G (p.Met2577Val)
c.7699A>G (p.Met2567Val)
c.7654A>G (p.Met2552Val)
c.7249A>G (p.Met2417Val)
c.6607A>G (p.Met2203Val)
c.4117A>G (p.Met1373Val)
10g.71803009A>TCA377160749CDH23c.7594A>T (p.Met2532Leu)
c.1527A>T (n.1527A>T)
c.1191A>T (n.1191A>T)
c.7609A>T (p.Met2537Leu)
c.874A>T (p.Met292Leu)
n.1130A>T
c.7789A>T (p.Met2597Leu)
c.7723A>T (p.Met2575Leu)
c.7786A>T (p.Met2596Leu)
c.7783A>T (p.Met2595Leu)
c.7729A>T (p.Met2577Leu)
c.7699A>T (p.Met2567Leu)
c.7654A>T (p.Met2552Leu)
c.7249A>T (p.Met2417Leu)
c.6607A>T (p.Met2203Leu)
c.4117A>T (p.Met1373Leu)
10g.71803010T>ACA377160753CDH23c.7595T>A (p.Met2532Lys)
c.1528T>A (n.1528T>A)
c.1192T>A (n.1192T>A)
c.7610T>A (p.Met2537Lys)
c.875T>A (p.Met292Lys)
n.1131T>A
c.7790T>A (p.Met2597Lys)
c.7724T>A (p.Met2575Lys)
c.7787T>A (p.Met2596Lys)
c.7784T>A (p.Met2595Lys)
c.7730T>A (p.Met2577Lys)
c.7700T>A (p.Met2567Lys)
c.7655T>A (p.Met2552Lys)
c.7250T>A (p.Met2417Lys)
c.6608T>A (p.Met2203Lys)
c.4118T>A (p.Met1373Lys)
10g.71803010T>CCA377160755CDH23c.7595T>C (p.Met2532Thr)
c.1528T>C (n.1528T>C)
c.1192T>C (n.1192T>C)
c.7610T>C (p.Met2537Thr)
c.875T>C (p.Met292Thr)
n.1131T>C
c.7790T>C (p.Met2597Thr)
c.7724T>C (p.Met2575Thr)
c.7787T>C (p.Met2596Thr)
c.7784T>C (p.Met2595Thr)
c.7730T>C (p.Met2577Thr)
c.7700T>C (p.Met2567Thr)
c.7655T>C (p.Met2552Thr)
c.7250T>C (p.Met2417Thr)
c.6608T>C (p.Met2203Thr)
c.4118T>C (p.Met1373Thr)
 dbSNP
10g.71803010T>GCA377160757CDH23c.7595T>G (p.Met2532Arg)
c.1528T>G (n.1528T>G)
c.1192T>G (n.1192T>G)
c.7610T>G (p.Met2537Arg)
c.875T>G (p.Met292Arg)
n.1131T>G
c.7790T>G (p.Met2597Arg)
c.7724T>G (p.Met2575Arg)
c.7787T>G (p.Met2596Arg)
c.7784T>G (p.Met2595Arg)
c.7730T>G (p.Met2577Arg)
c.7700T>G (p.Met2567Arg)
c.7655T>G (p.Met2552Arg)
c.7250T>G (p.Met2417Arg)
c.6608T>G (p.Met2203Arg)
c.4118T>G (p.Met1373Arg)
10g.71803010T=CA1918880432CDH23c.7595T= (p.Met2532=)
c.1528T= (n.1528T=)
c.1192T= (n.1192T=)
c.7610T= (p.Met2537=)
c.875T= (p.Met292=)
n.1131T=
c.7790T= (p.Met2597=)
c.7724T= (p.Met2575=)
c.7787T= (p.Met2596=)
c.7784T= (p.Met2595=)
c.7730T= (p.Met2577=)
c.7700T= (p.Met2567=)
c.7655T= (p.Met2552=)
c.7250T= (p.Met2417=)
c.6608T= (p.Met2203=)
c.4118T= (p.Met1373=)
10g.71803011G>ACA377160759CDH23c.7596G>A (p.Met2532Ile)
c.1529G>A (n.1529G>A)
c.1193G>A (n.1193G>A)
c.7611G>A (p.Met2537Ile)
c.876G>A (p.Met292Ile)
n.1132G>A
c.7791G>A (p.Met2597Ile)
c.7725G>A (p.Met2575Ile)
c.7788G>A (p.Met2596Ile)
c.7785G>A (p.Met2595Ile)
c.7731G>A (p.Met2577Ile)
c.7701G>A (p.Met2567Ile)
c.7656G>A (p.Met2552Ile)
c.7251G>A (p.Met2417Ile)
c.6609G>A (p.Met2203Ile)
c.4119G>A (p.Met1373Ile)
10g.71803011G>CCA377160761CDH23c.7596G>C (p.Met2532Ile)
c.1529G>C (n.1529G>C)
c.1193G>C (n.1193G>C)
c.7611G>C (p.Met2537Ile)
c.876G>C (p.Met292Ile)
n.1132G>C
c.7791G>C (p.Met2597Ile)
c.7725G>C (p.Met2575Ile)
c.7788G>C (p.Met2596Ile)
c.7785G>C (p.Met2595Ile)
c.7731G>C (p.Met2577Ile)
c.7701G>C (p.Met2567Ile)
c.7656G>C (p.Met2552Ile)
c.7251G>C (p.Met2417Ile)
c.6609G>C (p.Met2203Ile)
c.4119G>C (p.Met1373Ile)
10g.71803011G>TCA377160771CDH23c.7596G>T (p.Met2532Ile)
c.1529G>T (n.1529G>T)
c.1193G>T (n.1193G>T)
c.7611G>T (p.Met2537Ile)
c.876G>T (p.Met292Ile)
n.1132G>T
c.7791G>T (p.Met2597Ile)
c.7725G>T (p.Met2575Ile)
c.7788G>T (p.Met2596Ile)
c.7785G>T (p.Met2595Ile)
c.7731G>T (p.Met2577Ile)
c.7701G>T (p.Met2567Ile)
c.7656G>T (p.Met2552Ile)
c.7251G>T (p.Met2417Ile)
c.6609G>T (p.Met2203Ile)
c.4119G>T (p.Met1373Ile)
 COSMIC
10g.71803012G>ACA377160777CDH23c.7597G>A (p.Ala2533Thr)
c.1530G>A (n.1530G>A)
c.1194G>A (n.1194G>A)
c.7612G>A (p.Ala2538Thr)
c.877G>A (p.Ala293Thr)
n.1133G>A
c.7792G>A (p.Ala2598Thr)
c.7726G>A (p.Ala2576Thr)
c.7789G>A (p.Ala2597Thr)
c.7786G>A (p.Ala2596Thr)
c.7732G>A (p.Ala2578Thr)
c.7702G>A (p.Ala2568Thr)
c.7657G>A (p.Ala2553Thr)
c.7252G>A (p.Ala2418Thr)
c.6610G>A (p.Ala2204Thr)
c.4120G>A (p.Ala1374Thr)
 dbSNP
10g.71803012G>CCA377160775CDH23c.7597G>C (p.Ala2533Pro)
c.1530G>C (n.1530G>C)
c.1194G>C (n.1194G>C)
c.7612G>C (p.Ala2538Pro)
c.877G>C (p.Ala293Pro)
n.1133G>C
c.7792G>C (p.Ala2598Pro)
c.7726G>C (p.Ala2576Pro)
c.7789G>C (p.Ala2597Pro)
c.7786G>C (p.Ala2596Pro)
c.7732G>C (p.Ala2578Pro)
c.7702G>C (p.Ala2568Pro)
c.7657G>C (p.Ala2553Pro)
c.7252G>C (p.Ala2418Pro)
c.6610G>C (p.Ala2204Pro)
c.4120G>C (p.Ala1374Pro)
10g.71803012G=CA1918880433CDH23c.7597G= (p.Ala2533=)
c.1530G= (n.1530G=)
c.1194G= (n.1194G=)
c.7612G= (p.Ala2538=)
c.877G= (p.Ala293=)
n.1133G=
c.7792G= (p.Ala2598=)
c.7726G= (p.Ala2576=)
c.7789G= (p.Ala2597=)
c.7786G= (p.Ala2596=)
c.7732G= (p.Ala2578=)
c.7702G= (p.Ala2568=)
c.7657G= (p.Ala2553=)
c.7252G= (p.Ala2418=)
c.6610G= (p.Ala2204=)
c.4120G= (p.Ala1374=)
10g.71803012G>TCA377160773CDH23c.7597G>T (p.Ala2533Ser)
c.1530G>T (n.1530G>T)
c.1194G>T (n.1194G>T)
c.7612G>T (p.Ala2538Ser)
c.877G>T (p.Ala293Ser)
n.1133G>T
c.7792G>T (p.Ala2598Ser)
c.7726G>T (p.Ala2576Ser)
c.7789G>T (p.Ala2597Ser)
c.7786G>T (p.Ala2596Ser)
c.7732G>T (p.Ala2578Ser)
c.7702G>T (p.Ala2568Ser)
c.7657G>T (p.Ala2553Ser)
c.7252G>T (p.Ala2418Ser)
c.6610G>T (p.Ala2204Ser)
c.4120G>T (p.Ala1374Ser)
 gnomAD v4
10g.71803013C>ACA377160782CDH23c.7598C>A (p.Ala2533Asp)
c.1531C>A (n.1531C>A)
c.1195C>A (n.1195C>A)
c.7613C>A (p.Ala2538Asp)
c.878C>A (p.Ala293Asp)
n.1134C>A
c.7793C>A (p.Ala2598Asp)
c.7727C>A (p.Ala2576Asp)
c.7790C>A (p.Ala2597Asp)
c.7787C>A (p.Ala2596Asp)
c.7733C>A (p.Ala2578Asp)
c.7703C>A (p.Ala2568Asp)
c.7658C>A (p.Ala2553Asp)
c.7253C>A (p.Ala2418Asp)
c.6611C>A (p.Ala2204Asp)
c.4121C>A (p.Ala1374Asp)
10g.71803013C>GCA377160784CDH23c.7598C>G (p.Ala2533Gly)
c.1531C>G (n.1531C>G)
c.1195C>G (n.1195C>G)
c.7613C>G (p.Ala2538Gly)
c.878C>G (p.Ala293Gly)
n.1134C>G
c.7793C>G (p.Ala2598Gly)
c.7727C>G (p.Ala2576Gly)
c.7790C>G (p.Ala2597Gly)
c.7787C>G (p.Ala2596Gly)
c.7733C>G (p.Ala2578Gly)
c.7703C>G (p.Ala2568Gly)
c.7658C>G (p.Ala2553Gly)
c.7253C>G (p.Ala2418Gly)
c.6611C>G (p.Ala2204Gly)
c.4121C>G (p.Ala1374Gly)
10g.71803013C>TCA377160786CDH23c.7598C>T (p.Ala2533Val)
c.1531C>T (n.1531C>T)
c.1195C>T (n.1195C>T)
c.7613C>T (p.Ala2538Val)
c.878C>T (p.Ala293Val)
n.1134C>T
c.7793C>T (p.Ala2598Val)
c.7727C>T (p.Ala2576Val)
c.7790C>T (p.Ala2597Val)
c.7787C>T (p.Ala2596Val)
c.7733C>T (p.Ala2578Val)
c.7703C>T (p.Ala2568Val)
c.7658C>T (p.Ala2553Val)
c.7253C>T (p.Ala2418Val)
c.6611C>T (p.Ala2204Val)
c.4121C>T (p.Ala1374Val)
10g.71803014C>ACA470062503CDH23c.7599C>A (p.Ala2533=)
c.1532C>A (n.1532C>A)
c.1196C>A (n.1196C>A)
c.7614C>A (p.Ala2538=)
c.879C>A (p.Ala293=)
n.1135C>A
c.7794C>A (p.Ala2598=)
c.7728C>A (p.Ala2576=)
c.7791C>A (p.Ala2597=)
c.7788C>A (p.Ala2596=)
c.7734C>A (p.Ala2578=)
c.7704C>A (p.Ala2568=)
c.7659C>A (p.Ala2553=)
c.7254C>A (p.Ala2418=)
c.6612C>A (p.Ala2204=)
c.4122C>A (p.Ala1374=)
10g.71803014C=CA1918880434CDH23c.7599C= (p.Ala2533=)
c.1532C= (n.1532C=)
c.1196C= (n.1196C=)
c.7614C= (p.Ala2538=)
c.879C= (p.Ala293=)
n.1135C=
c.7794C= (p.Ala2598=)
c.7728C= (p.Ala2576=)
c.7791C= (p.Ala2597=)
c.7788C= (p.Ala2596=)
c.7734C= (p.Ala2578=)
c.7704C= (p.Ala2568=)
c.7659C= (p.Ala2553=)
c.7254C= (p.Ala2418=)
c.6612C= (p.Ala2204=)
c.4122C= (p.Ala1374=)
10g.71803014C>GCA470062504CDH23c.7599C>G (p.Ala2533=)
c.1532C>G (n.1532C>G)
c.1196C>G (n.1196C>G)
c.7614C>G (p.Ala2538=)
c.879C>G (p.Ala293=)
n.1135C>G
c.7794C>G (p.Ala2598=)
c.7728C>G (p.Ala2576=)
c.7791C>G (p.Ala2597=)
c.7788C>G (p.Ala2596=)
c.7734C>G (p.Ala2578=)
c.7704C>G (p.Ala2568=)
c.7659C>G (p.Ala2553=)
c.7254C>G (p.Ala2418=)
c.6612C>G (p.Ala2204=)
c.4122C>G (p.Ala1374=)
 ClinVar dbSNP gnomAD v4
10g.71803014C>TCA470062505CDH23c.7599C>T (p.Ala2533=)
c.1532C>T (n.1532C>T)
c.1196C>T (n.1196C>T)
c.7614C>T (p.Ala2538=)
c.879C>T (p.Ala293=)
n.1135C>T
c.7794C>T (p.Ala2598=)
c.7728C>T (p.Ala2576=)
c.7791C>T (p.Ala2597=)
c.7788C>T (p.Ala2596=)
c.7734C>T (p.Ala2578=)
c.7704C>T (p.Ala2568=)
c.7659C>T (p.Ala2553=)
c.7254C>T (p.Ala2418=)
c.6612C>T (p.Ala2204=)
c.4122C>T (p.Ala1374=)
 gnomAD v4
10g.71803015A>CCA377160792CDH23c.7600A>C (p.Thr2534Pro)
c.1533A>C (n.1533A>C)
c.1197A>C (n.1197A>C)
c.7615A>C (p.Thr2539Pro)
c.880A>C (p.Thr294Pro)
n.1136A>C
c.7795A>C (p.Thr2599Pro)
c.7729A>C (p.Thr2577Pro)
c.7792A>C (p.Thr2598Pro)
c.7789A>C (p.Thr2597Pro)
c.7735A>C (p.Thr2579Pro)
c.7705A>C (p.Thr2569Pro)
c.7660A>C (p.Thr2554Pro)
c.7255A>C (p.Thr2419Pro)
c.6613A>C (p.Thr2205Pro)
c.4123A>C (p.Thr1375Pro)
10g.71803015A>GCA377160795CDH23c.7600A>G (p.Thr2534Ala)
c.1533A>G (n.1533A>G)
c.1197A>G (n.1197A>G)
c.7615A>G (p.Thr2539Ala)
c.880A>G (p.Thr294Ala)
n.1136A>G
c.7795A>G (p.Thr2599Ala)
c.7729A>G (p.Thr2577Ala)
c.7792A>G (p.Thr2598Ala)
c.7789A>G (p.Thr2597Ala)
c.7735A>G (p.Thr2579Ala)
c.7705A>G (p.Thr2569Ala)
c.7660A>G (p.Thr2554Ala)
c.7255A>G (p.Thr2419Ala)
c.6613A>G (p.Thr2205Ala)
c.4123A>G (p.Thr1375Ala)
10g.71803015A>TCA377160797CDH23c.7600A>T (p.Thr2534Ser)
c.1533A>T (n.1533A>T)
c.1197A>T (n.1197A>T)
c.7615A>T (p.Thr2539Ser)
c.880A>T (p.Thr294Ser)
n.1136A>T
c.7795A>T (p.Thr2599Ser)
c.7729A>T (p.Thr2577Ser)
c.7792A>T (p.Thr2598Ser)
c.7789A>T (p.Thr2597Ser)
c.7735A>T (p.Thr2579Ser)
c.7705A>T (p.Thr2569Ser)
c.7660A>T (p.Thr2554Ser)
c.7255A>T (p.Thr2419Ser)
c.6613A>T (p.Thr2205Ser)
c.4123A>T (p.Thr1375Ser)
 COSMIC
10g.71803016C>ACA377160799CDH23c.7601C>A (p.Thr2534Asn)
c.1534C>A (n.1534C>A)
c.1198C>A (n.1198C>A)
c.7616C>A (p.Thr2539Asn)
c.881C>A (p.Thr294Asn)
n.1137C>A
c.7796C>A (p.Thr2599Asn)
c.7730C>A (p.Thr2577Asn)
c.7793C>A (p.Thr2598Asn)
c.7790C>A (p.Thr2597Asn)
c.7736C>A (p.Thr2579Asn)
c.7706C>A (p.Thr2569Asn)
c.7661C>A (p.Thr2554Asn)
c.7256C>A (p.Thr2419Asn)
c.6614C>A (p.Thr2205Asn)
c.4124C>A (p.Thr1375Asn)
10g.71803016C>GCA377160803CDH23c.7601C>G (p.Thr2534Ser)
c.1534C>G (n.1534C>G)
c.1198C>G (n.1198C>G)
c.7616C>G (p.Thr2539Ser)
c.881C>G (p.Thr294Ser)
n.1137C>G
c.7796C>G (p.Thr2599Ser)
c.7730C>G (p.Thr2577Ser)
c.7793C>G (p.Thr2598Ser)
c.7790C>G (p.Thr2597Ser)
c.7736C>G (p.Thr2579Ser)
c.7706C>G (p.Thr2569Ser)
c.7661C>G (p.Thr2554Ser)
c.7256C>G (p.Thr2419Ser)
c.6614C>G (p.Thr2205Ser)
c.4124C>G (p.Thr1375Ser)
10g.71803016C>TCA377160801CDH23c.7601C>T (p.Thr2534Ile)
c.1534C>T (n.1534C>T)
c.1198C>T (n.1198C>T)
c.7616C>T (p.Thr2539Ile)
c.881C>T (p.Thr294Ile)
n.1137C>T
c.7796C>T (p.Thr2599Ile)
c.7730C>T (p.Thr2577Ile)
c.7793C>T (p.Thr2598Ile)
c.7790C>T (p.Thr2597Ile)
c.7736C>T (p.Thr2579Ile)
c.7706C>T (p.Thr2569Ile)
c.7661C>T (p.Thr2554Ile)
c.7256C>T (p.Thr2419Ile)
c.6614C>T (p.Thr2205Ile)
c.4124C>T (p.Thr1375Ile)
10g.71803017T>ACA470062506CDH23c.7602T>A (p.Thr2534=)
c.1535T>A (n.1535T>A)
c.1199T>A (n.1199T>A)
c.7617T>A (p.Thr2539=)
c.882T>A (p.Thr294=)
n.1138T>A
c.7797T>A (p.Thr2599=)
c.7731T>A (p.Thr2577=)
c.7794T>A (p.Thr2598=)
c.7791T>A (p.Thr2597=)
c.7737T>A (p.Thr2579=)
c.7707T>A (p.Thr2569=)
c.7662T>A (p.Thr2554=)
c.7257T>A (p.Thr2419=)
c.6615T>A (p.Thr2205=)
c.4125T>A (p.Thr1375=)
10g.71803017T>CCA470062507CDH23c.7602T>C (p.Thr2534=)
c.1535T>C (n.1535T>C)
c.1199T>C (n.1199T>C)
c.7617T>C (p.Thr2539=)
c.882T>C (p.Thr294=)
n.1138T>C
c.7797T>C (p.Thr2599=)
c.7731T>C (p.Thr2577=)
c.7794T>C (p.Thr2598=)
c.7791T>C (p.Thr2597=)
c.7737T>C (p.Thr2579=)
c.7707T>C (p.Thr2569=)
c.7662T>C (p.Thr2554=)
c.7257T>C (p.Thr2419=)
c.6615T>C (p.Thr2205=)
c.4125T>C (p.Thr1375=)
 ClinVar dbSNP
10g.71803017T>GCA470062508CDH23c.7602T>G (p.Thr2534=)
c.1535T>G (n.1535T>G)
c.1199T>G (n.1199T>G)
c.7617T>G (p.Thr2539=)
c.882T>G (p.Thr294=)
n.1138T>G
c.7797T>G (p.Thr2599=)
c.7731T>G (p.Thr2577=)
c.7794T>G (p.Thr2598=)
c.7791T>G (p.Thr2597=)
c.7737T>G (p.Thr2579=)
c.7707T>G (p.Thr2569=)
c.7662T>G (p.Thr2554=)
c.7257T>G (p.Thr2419=)
c.6615T>G (p.Thr2205=)
c.4125T>G (p.Thr1375=)
10g.71803018G>ACA377160805CDH23c.7603G>A (p.Asp2535Asn)
c.1536G>A (n.1536G>A)
c.1200G>A (n.1200G>A)
c.7618G>A (p.Asp2540Asn)
c.883G>A (p.Asp295Asn)
n.1139G>A
c.7798G>A (p.Asp2600Asn)
c.7732G>A (p.Asp2578Asn)
c.7795G>A (p.Asp2599Asn)
c.7792G>A (p.Asp2598Asn)
c.7738G>A (p.Asp2580Asn)
c.7708G>A (p.Asp2570Asn)
c.7663G>A (p.Asp2555Asn)
c.7258G>A (p.Asp2420Asn)
c.6616G>A (p.Asp2206Asn)
c.4126G>A (p.Asp1376Asn)
10g.71803018G>CCA377160807CDH23c.7603G>C (p.Asp2535His)
c.1536G>C (n.1536G>C)
c.1200G>C (n.1200G>C)
c.7618G>C (p.Asp2540His)
c.883G>C (p.Asp295His)
n.1139G>C
c.7798G>C (p.Asp2600His)
c.7732G>C (p.Asp2578His)
c.7795G>C (p.Asp2599His)
c.7792G>C (p.Asp2598His)
c.7738G>C (p.Asp2580His)
c.7708G>C (p.Asp2570His)
c.7663G>C (p.Asp2555His)
c.7258G>C (p.Asp2420His)
c.6616G>C (p.Asp2206His)
c.4126G>C (p.Asp1376His)
10g.71803018G>TCA377160810CDH23c.7603G>T (p.Asp2535Tyr)
c.1536G>T (n.1536G>T)
c.1200G>T (n.1200G>T)
c.7618G>T (p.Asp2540Tyr)
c.883G>T (p.Asp295Tyr)
n.1139G>T
c.7798G>T (p.Asp2600Tyr)
c.7732G>T (p.Asp2578Tyr)
c.7795G>T (p.Asp2599Tyr)
c.7792G>T (p.Asp2598Tyr)
c.7738G>T (p.Asp2580Tyr)
c.7708G>T (p.Asp2570Tyr)
c.7663G>T (p.Asp2555Tyr)
c.7258G>T (p.Asp2420Tyr)
c.6616G>T (p.Asp2206Tyr)
c.4126G>T (p.Asp1376Tyr)
10g.71803019A>CCA377160812CDH23c.7604A>C (p.Asp2535Ala)
c.1537A>C (n.1537A>C)
c.1201A>C (n.1201A>C)
c.7619A>C (p.Asp2540Ala)
c.884A>C (p.Asp295Ala)
n.1140A>C
c.7799A>C (p.Asp2600Ala)
c.7733A>C (p.Asp2578Ala)
c.7796A>C (p.Asp2599Ala)
c.7793A>C (p.Asp2598Ala)
c.7739A>C (p.Asp2580Ala)
c.7709A>C (p.Asp2570Ala)
c.7664A>C (p.Asp2555Ala)
c.7259A>C (p.Asp2420Ala)
c.6617A>C (p.Asp2206Ala)
c.4127A>C (p.Asp1376Ala)
10g.71803019A>GCA377160814CDH23c.7604A>G (p.Asp2535Gly)
c.1537A>G (n.1537A>G)
c.1201A>G (n.1201A>G)
c.7619A>G (p.Asp2540Gly)
c.884A>G (p.Asp295Gly)
n.1140A>G
c.7799A>G (p.Asp2600Gly)
c.7733A>G (p.Asp2578Gly)
c.7796A>G (p.Asp2599Gly)
c.7793A>G (p.Asp2598Gly)
c.7739A>G (p.Asp2580Gly)
c.7709A>G (p.Asp2570Gly)
c.7664A>G (p.Asp2555Gly)
c.7259A>G (p.Asp2420Gly)
c.6617A>G (p.Asp2206Gly)
c.4127A>G (p.Asp1376Gly)
10g.71803019A>TCA377160816CDH23c.7604A>T (p.Asp2535Val)
c.1537A>T (n.1537A>T)
c.1201A>T (n.1201A>T)
c.7619A>T (p.Asp2540Val)
c.884A>T (p.Asp295Val)
n.1140A>T
c.7799A>T (p.Asp2600Val)
c.7733A>T (p.Asp2578Val)
c.7796A>T (p.Asp2599Val)
c.7793A>T (p.Asp2598Val)
c.7739A>T (p.Asp2580Val)
c.7709A>T (p.Asp2570Val)
c.7664A>T (p.Asp2555Val)
c.7259A>T (p.Asp2420Val)
c.6617A>T (p.Asp2206Val)
c.4127A>T (p.Asp1376Val)
10g.71803020C>ACA377160818CDH23c.7605C>A (p.Asp2535Glu)
c.1538C>A (n.1538C>A)
c.1202C>A (n.1202C>A)
c.7620C>A (p.Asp2540Glu)
c.885C>A (p.Asp295Glu)
n.1141C>A
c.7800C>A (p.Asp2600Glu)
c.7734C>A (p.Asp2578Glu)
c.7797C>A (p.Asp2599Glu)
c.7794C>A (p.Asp2598Glu)
c.7740C>A (p.Asp2580Glu)
c.7710C>A (p.Asp2570Glu)
c.7665C>A (p.Asp2555Glu)
c.7260C>A (p.Asp2420Glu)
c.6618C>A (p.Asp2206Glu)
c.4128C>A (p.Asp1376Glu)
10g.71803020C=CA1918880435CDH23c.7605C= (p.Asp2535=)
c.1538C= (n.1538C=)
c.1202C= (n.1202C=)
c.7620C= (p.Asp2540=)
c.885C= (p.Asp295=)
n.1141C=
c.7800C= (p.Asp2600=)
c.7734C= (p.Asp2578=)
c.7797C= (p.Asp2599=)
c.7794C= (p.Asp2598=)
c.7740C= (p.Asp2580=)
c.7710C= (p.Asp2570=)
c.7665C= (p.Asp2555=)
c.7260C= (p.Asp2420=)
c.6618C= (p.Asp2206=)
c.4128C= (p.Asp1376=)
10g.71803020C>GCA377160819CDH23c.7605C>G (p.Asp2535Glu)
c.1538C>G (n.1538C>G)
c.1202C>G (n.1202C>G)
c.7620C>G (p.Asp2540Glu)
c.885C>G (p.Asp295Glu)
n.1141C>G
c.7800C>G (p.Asp2600Glu)
c.7734C>G (p.Asp2578Glu)
c.7797C>G (p.Asp2599Glu)
c.7794C>G (p.Asp2598Glu)
c.7740C>G (p.Asp2580Glu)
c.7710C>G (p.Asp2570Glu)
c.7665C>G (p.Asp2555Glu)
c.7260C>G (p.Asp2420Glu)
c.6618C>G (p.Asp2206Glu)
c.4128C>G (p.Asp1376Glu)
10g.71803020C>TCA470062509CDH23c.7605C>T (p.Asp2535=)
c.1538C>T (n.1538C>T)
c.1202C>T (n.1202C>T)
c.7620C>T (p.Asp2540=)
c.885C>T (p.Asp295=)
n.1141C>T
c.7800C>T (p.Asp2600=)
c.7734C>T (p.Asp2578=)
c.7797C>T (p.Asp2599=)
c.7794C>T (p.Asp2598=)
c.7740C>T (p.Asp2580=)
c.7710C>T (p.Asp2570=)
c.7665C>T (p.Asp2555=)
c.7260C>T (p.Asp2420=)
c.6618C>T (p.Asp2206=)
c.4128C>T (p.Asp1376=)
 ClinVar dbSNP gnomAD v4
10g.71803021C>ACA377160821CDH23c.7606C>A (p.Gln2536Lys)
c.1539C>A (n.1539C>A)
c.1203C>A (n.1203C>A)
c.7621C>A (p.Gln2541Lys)
c.886C>A (p.Gln296Lys)
n.1142C>A
c.7801C>A (p.Gln2601Lys)
c.7735C>A (p.Gln2579Lys)
c.7798C>A (p.Gln2600Lys)
c.7795C>A (p.Gln2599Lys)
c.7741C>A (p.Gln2581Lys)
c.7711C>A (p.Gln2571Lys)
c.7666C>A (p.Gln2556Lys)
c.7261C>A (p.Gln2421Lys)
c.6619C>A (p.Gln2207Lys)
c.4129C>A (p.Gln1377Lys)
10g.71803021C=CA1918880436CDH23c.7606C= (p.Gln2536=)
c.1539C= (n.1539C=)
c.1203C= (n.1203C=)
c.7621C= (p.Gln2541=)
c.886C= (p.Gln296=)
n.1142C=
c.7801C= (p.Gln2601=)
c.7735C= (p.Gln2579=)
c.7798C= (p.Gln2600=)
c.7795C= (p.Gln2599=)
c.7741C= (p.Gln2581=)
c.7711C= (p.Gln2571=)
c.7666C= (p.Gln2556=)
c.7261C= (p.Gln2421=)
c.6619C= (p.Gln2207=)
c.4129C= (p.Gln1377=)
10g.71803021C>GCA377160823CDH23c.7606C>G (p.Gln2536Glu)
c.1539C>G (n.1539C>G)
c.1203C>G (n.1203C>G)
c.7621C>G (p.Gln2541Glu)
c.886C>G (p.Gln296Glu)
n.1142C>G
c.7801C>G (p.Gln2601Glu)
c.7735C>G (p.Gln2579Glu)
c.7798C>G (p.Gln2600Glu)
c.7795C>G (p.Gln2599Glu)
c.7741C>G (p.Gln2581Glu)
c.7711C>G (p.Gln2571Glu)
c.7666C>G (p.Gln2556Glu)
c.7261C>G (p.Gln2421Glu)
c.6619C>G (p.Gln2207Glu)
c.4129C>G (p.Gln1377Glu)
10g.71803021C>TCA377160825CDH23c.7606C>T (p.Gln2536Ter)
c.1539C>T (n.1539C>T)
c.1203C>T (n.1203C>T)
c.7621C>T (p.Gln2541Ter)
c.886C>T (p.Gln296Ter)
n.1142C>T
c.7801C>T (p.Gln2601Ter)
c.7735C>T (p.Gln2579Ter)
c.7798C>T (p.Gln2600Ter)
c.7795C>T (p.Gln2599Ter)
c.7741C>T (p.Gln2581Ter)
c.7711C>T (p.Gln2571Ter)
c.7666C>T (p.Gln2556Ter)
c.7261C>T (p.Gln2421Ter)
c.6619C>T (p.Gln2207Ter)
c.4129C>T (p.Gln1377Ter)
 dbSNP
10g.71803022A>CCA377160828CDH23c.7607A>C (p.Gln2536Pro)
c.1540A>C (n.1540A>C)
c.1204A>C (n.1204A>C)
c.7622A>C (p.Gln2541Pro)
c.887A>C (p.Gln296Pro)
n.1143A>C
c.7802A>C (p.Gln2601Pro)
c.7736A>C (p.Gln2579Pro)
c.7799A>C (p.Gln2600Pro)
c.7796A>C (p.Gln2599Pro)
c.7742A>C (p.Gln2581Pro)
c.7712A>C (p.Gln2571Pro)
c.7667A>C (p.Gln2556Pro)
c.7262A>C (p.Gln2421Pro)
c.6620A>C (p.Gln2207Pro)
c.4130A>C (p.Gln1377Pro)
10g.71803022A>GCA377160833CDH23c.7607A>G (p.Gln2536Arg)
c.1540A>G (n.1540A>G)
c.1204A>G (n.1204A>G)
c.7622A>G (p.Gln2541Arg)
c.887A>G (p.Gln296Arg)
n.1143A>G
c.7802A>G (p.Gln2601Arg)
c.7736A>G (p.Gln2579Arg)
c.7799A>G (p.Gln2600Arg)
c.7796A>G (p.Gln2599Arg)
c.7742A>G (p.Gln2581Arg)
c.7712A>G (p.Gln2571Arg)
c.7667A>G (p.Gln2556Arg)
c.7262A>G (p.Gln2421Arg)
c.6620A>G (p.Gln2207Arg)
c.4130A>G (p.Gln1377Arg)
10g.71803022A>TCA377160829CDH23c.7607A>T (p.Gln2536Leu)
c.1540A>T (n.1540A>T)
c.1204A>T (n.1204A>T)
c.7622A>T (p.Gln2541Leu)
c.887A>T (p.Gln296Leu)
n.1143A>T
c.7802A>T (p.Gln2601Leu)
c.7736A>T (p.Gln2579Leu)
c.7799A>T (p.Gln2600Leu)
c.7796A>T (p.Gln2599Leu)
c.7742A>T (p.Gln2581Leu)
c.7712A>T (p.Gln2571Leu)
c.7667A>T (p.Gln2556Leu)
c.7262A>T (p.Gln2421Leu)
c.6620A>T (p.Gln2207Leu)
c.4130A>T (p.Gln1377Leu)
10g.71803023G>ACA470062510CDH23c.7608G>A (p.Gln2536=)
c.1541G>A (n.1541G>A)
c.1205G>A (n.1205G>A)
c.7623G>A (p.Gln2541=)
c.888G>A (p.Gln296=)
n.1144G>A
c.7803G>A (p.Gln2601=)
c.7737G>A (p.Gln2579=)
c.7800G>A (p.Gln2600=)
c.7797G>A (p.Gln2599=)
c.7743G>A (p.Gln2581=)
c.7713G>A (p.Gln2571=)
c.7668G>A (p.Gln2556=)
c.7263G>A (p.Gln2421=)
c.6621G>A (p.Gln2207=)
c.4131G>A (p.Gln1377=)
10g.71803023G>CCA377160835CDH23c.7608G>C (p.Gln2536His)
c.1541G>C (n.1541G>C)
c.1205G>C (n.1205G>C)
c.7623G>C (p.Gln2541His)
c.888G>C (p.Gln296His)
n.1144G>C
c.7803G>C (p.Gln2601His)
c.7737G>C (p.Gln2579His)
c.7800G>C (p.Gln2600His)
c.7797G>C (p.Gln2599His)
c.7743G>C (p.Gln2581His)
c.7713G>C (p.Gln2571His)
c.7668G>C (p.Gln2556His)
c.7263G>C (p.Gln2421His)
c.6621G>C (p.Gln2207His)
c.4131G>C (p.Gln1377His)
10g.71803023G>TCA377160836CDH23c.7608G>T (p.Gln2536His)
c.1541G>T (n.1541G>T)
c.1205G>T (n.1205G>T)
c.7623G>T (p.Gln2541His)
c.888G>T (p.Gln296His)
n.1144G>T
c.7803G>T (p.Gln2601His)
c.7737G>T (p.Gln2579His)
c.7800G>T (p.Gln2600His)
c.7797G>T (p.Gln2599His)
c.7743G>T (p.Gln2581His)
c.7713G>T (p.Gln2571His)
c.7668G>T (p.Gln2556His)
c.7263G>T (p.Gln2421His)
c.6621G>T (p.Gln2207His)
c.4131G>T (p.Gln1377His)
10g.71803024G>ACA377160838CDH23c.7609G>A (p.Asp2537Asn)
c.1542G>A (n.1542G>A)
c.1206G>A (n.1206G>A)
c.7624G>A (p.Asp2542Asn)
c.889G>A (p.Asp297Asn)
n.1145G>A
c.7804G>A (p.Asp2602Asn)
c.7738G>A (p.Asp2580Asn)
c.7801G>A (p.Asp2601Asn)
c.7798G>A (p.Asp2600Asn)
c.7744G>A (p.Asp2582Asn)
c.7714G>A (p.Asp2572Asn)
c.7669G>A (p.Asp2557Asn)
c.7264G>A (p.Asp2422Asn)
c.6622G>A (p.Asp2208Asn)
c.4132G>A (p.Asp1378Asn)
 COSMIC
10g.71803024G>CCA377160839CDH23c.7609G>C (p.Asp2537His)
c.1542G>C (n.1542G>C)
c.1206G>C (n.1206G>C)
c.7624G>C (p.Asp2542His)
c.889G>C (p.Asp297His)
n.1145G>C
c.7804G>C (p.Asp2602His)
c.7738G>C (p.Asp2580His)
c.7801G>C (p.Asp2601His)
c.7798G>C (p.Asp2600His)
c.7744G>C (p.Asp2582His)
c.7714G>C (p.Asp2572His)
c.7669G>C (p.Asp2557His)
c.7264G>C (p.Asp2422His)
c.6622G>C (p.Asp2208His)
c.4132G>C (p.Asp1378His)
10g.71803024G>TCA377160840CDH23c.7609G>T (p.Asp2537Tyr)
c.1542G>T (n.1542G>T)
c.1206G>T (n.1206G>T)
c.7624G>T (p.Asp2542Tyr)
c.889G>T (p.Asp297Tyr)
n.1145G>T
c.7804G>T (p.Asp2602Tyr)
c.7738G>T (p.Asp2580Tyr)
c.7801G>T (p.Asp2601Tyr)
c.7798G>T (p.Asp2600Tyr)
c.7744G>T (p.Asp2582Tyr)
c.7714G>T (p.Asp2572Tyr)
c.7669G>T (p.Asp2557Tyr)
c.7264G>T (p.Asp2422Tyr)
c.6622G>T (p.Asp2208Tyr)
c.4132G>T (p.Asp1378Tyr)
10g.71803025A>CCA377160841CDH23c.7610A>C (p.Asp2537Ala)
c.1543A>C (n.1543A>C)
c.1207A>C (n.1207A>C)
c.7625A>C (p.Asp2542Ala)
c.890A>C (p.Asp297Ala)
n.1146A>C
c.7805A>C (p.Asp2602Ala)
c.7739A>C (p.Asp2580Ala)
c.7802A>C (p.Asp2601Ala)
c.7799A>C (p.Asp2600Ala)
c.7745A>C (p.Asp2582Ala)
c.7715A>C (p.Asp2572Ala)
c.7670A>C (p.Asp2557Ala)
c.7265A>C (p.Asp2422Ala)
c.6623A>C (p.Asp2208Ala)
c.4133A>C (p.Asp1378Ala)
10g.71803025A>GCA377160842CDH23c.7610A>G (p.Asp2537Gly)
c.1543A>G (n.1543A>G)
c.1207A>G (n.1207A>G)
c.7625A>G (p.Asp2542Gly)
c.890A>G (p.Asp297Gly)
n.1146A>G
c.7805A>G (p.Asp2602Gly)
c.7739A>G (p.Asp2580Gly)
c.7802A>G (p.Asp2601Gly)
c.7799A>G (p.Asp2600Gly)
c.7745A>G (p.Asp2582Gly)
c.7715A>G (p.Asp2572Gly)
c.7670A>G (p.Asp2557Gly)
c.7265A>G (p.Asp2422Gly)
c.6623A>G (p.Asp2208Gly)
c.4133A>G (p.Asp1378Gly)
10g.71803025A>TCA377160843CDH23c.7610A>T (p.Asp2537Val)
c.1543A>T (n.1543A>T)
c.1207A>T (n.1207A>T)
c.7625A>T (p.Asp2542Val)
c.890A>T (p.Asp297Val)
n.1146A>T
c.7805A>T (p.Asp2602Val)
c.7739A>T (p.Asp2580Val)
c.7802A>T (p.Asp2601Val)
c.7799A>T (p.Asp2600Val)
c.7745A>T (p.Asp2582Val)
c.7715A>T (p.Asp2572Val)
c.7670A>T (p.Asp2557Val)
c.7265A>T (p.Asp2422Val)
c.6623A>T (p.Asp2208Val)
c.4133A>T (p.Asp1378Val)
10g.71803026T>ACA377160845CDH23c.7611T>A (p.Asp2537Glu)
c.1544T>A (n.1544T>A)
c.1208T>A (n.1208T>A)
c.7626T>A (p.Asp2542Glu)
c.891T>A (p.Asp297Glu)
n.1147T>A
c.7806T>A (p.Asp2602Glu)
c.7740T>A (p.Asp2580Glu)
c.7803T>A (p.Asp2601Glu)
c.7800T>A (p.Asp2600Glu)
c.7746T>A (p.Asp2582Glu)
c.7716T>A (p.Asp2572Glu)
c.7671T>A (p.Asp2557Glu)
c.7266T>A (p.Asp2422Glu)
c.6624T>A (p.Asp2208Glu)
c.4134T>A (p.Asp1378Glu)
10g.71803026T>CCA470062511CDH23c.7611T>C (p.Asp2537=)
c.1544T>C (n.1544T>C)
c.1208T>C (n.1208T>C)
c.7626T>C (p.Asp2542=)
c.891T>C (p.Asp297=)
n.1147T>C
c.7806T>C (p.Asp2602=)
c.7740T>C (p.Asp2580=)
c.7803T>C (p.Asp2601=)
c.7800T>C (p.Asp2600=)
c.7746T>C (p.Asp2582=)
c.7716T>C (p.Asp2572=)
c.7671T>C (p.Asp2557=)
c.7266T>C (p.Asp2422=)
c.6624T>C (p.Asp2208=)
c.4134T>C (p.Asp1378=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71803026T>GCA377160847CDH23c.7611T>G (p.Asp2537Glu)
c.1544T>G (n.1544T>G)
c.1208T>G (n.1208T>G)
c.7626T>G (p.Asp2542Glu)
c.891T>G (p.Asp297Glu)
n.1147T>G
c.7806T>G (p.Asp2602Glu)
c.7740T>G (p.Asp2580Glu)
c.7803T>G (p.Asp2601Glu)
c.7800T>G (p.Asp2600Glu)
c.7746T>G (p.Asp2582Glu)
c.7716T>G (p.Asp2572Glu)
c.7671T>G (p.Asp2557Glu)
c.7266T>G (p.Asp2422Glu)
c.6624T>G (p.Asp2208Glu)
c.4134T>G (p.Asp1378Glu)
 gnomAD v4
10g.71803026T=CA1918880437CDH23c.7611T= (p.Asp2537=)
c.1544T= (n.1544T=)
c.1208T= (n.1208T=)
c.7626T= (p.Asp2542=)
c.891T= (p.Asp297=)
n.1147T=
c.7806T= (p.Asp2602=)
c.7740T= (p.Asp2580=)
c.7803T= (p.Asp2601=)
c.7800T= (p.Asp2600=)
c.7746T= (p.Asp2582=)
c.7716T= (p.Asp2572=)
c.7671T= (p.Asp2557=)
c.7266T= (p.Asp2422=)
c.6624T= (p.Asp2208=)
c.4134T= (p.Asp1378=)
10g.71803027G>ACA5546386CDH23c.7612G>A (p.Glu2538Lys)
c.1545G>A (n.1545G>A)
c.1209G>A (n.1209G>A)
c.7627G>A (p.Glu2543Lys)
c.892G>A (p.Glu298Lys)
n.1148G>A
c.7807G>A (p.Glu2603Lys)
c.7741G>A (p.Glu2581Lys)
c.7804G>A (p.Glu2602Lys)
c.7801G>A (p.Glu2601Lys)
c.7747G>A (p.Glu2583Lys)
c.7717G>A (p.Glu2573Lys)
c.7672G>A (p.Glu2558Lys)
c.7267G>A (p.Glu2423Lys)
c.6625G>A (p.Glu2209Lys)
c.4135G>A (p.Glu1379Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71803027G>CCA377160848CDH23c.7612G>C (p.Glu2538Gln)
c.1545G>C (n.1545G>C)
c.1209G>C (n.1209G>C)
c.7627G>C (p.Glu2543Gln)
c.892G>C (p.Glu298Gln)
n.1148G>C
c.7807G>C (p.Glu2603Gln)
c.7741G>C (p.Glu2581Gln)
c.7804G>C (p.Glu2602Gln)
c.7801G>C (p.Glu2601Gln)
c.7747G>C (p.Glu2583Gln)
c.7717G>C (p.Glu2573Gln)
c.7672G>C (p.Glu2558Gln)
c.7267G>C (p.Glu2423Gln)
c.6625G>C (p.Glu2209Gln)
c.4135G>C (p.Glu1379Gln)
10g.71803027G=CA1918880438CDH23c.7612G= (p.Glu2538=)
c.1545G= (n.1545G=)
c.1209G= (n.1209G=)
c.7627G= (p.Glu2543=)
c.892G= (p.Glu298=)
n.1148G=
c.7807G= (p.Glu2603=)
c.7741G= (p.Glu2581=)
c.7804G= (p.Glu2602=)
c.7801G= (p.Glu2601=)
c.7747G= (p.Glu2583=)
c.7717G= (p.Glu2573=)
c.7672G= (p.Glu2558=)
c.7267G= (p.Glu2423=)
c.6625G= (p.Glu2209=)
c.4135G= (p.Glu1379=)
10g.71803027G>TCA377160849CDH23c.7612G>T (p.Glu2538Ter)
c.1545G>T (n.1545G>T)
c.1209G>T (n.1209G>T)
c.7627G>T (p.Glu2543Ter)
c.892G>T (p.Glu298Ter)
n.1148G>T
c.7807G>T (p.Glu2603Ter)
c.7741G>T (p.Glu2581Ter)
c.7804G>T (p.Glu2602Ter)
c.7801G>T (p.Glu2601Ter)
c.7747G>T (p.Glu2583Ter)
c.7717G>T (p.Glu2573Ter)
c.7672G>T (p.Glu2558Ter)
c.7267G>T (p.Glu2423Ter)
c.6625G>T (p.Glu2209Ter)
c.4135G>T (p.Glu1379Ter)
10g.71803028A=CA1918880439CDH23c.7613A= (p.Glu2538=)
c.1546A= (n.1546A=)
c.1210A= (n.1210A=)
c.7628A= (p.Glu2543=)
c.893A= (p.Glu298=)
n.1149A=
c.7808A= (p.Glu2603=)
c.7742A= (p.Glu2581=)
c.7805A= (p.Glu2602=)
c.7802A= (p.Glu2601=)
c.7748A= (p.Glu2583=)
c.7718A= (p.Glu2573=)
c.7673A= (p.Glu2558=)
c.7268A= (p.Glu2423=)
c.6626A= (p.Glu2209=)
c.4136A= (p.Glu1379=)
10g.71803028A>CCA377160851CDH23c.7613A>C (p.Glu2538Ala)
c.1546A>C (n.1546A>C)
c.1210A>C (n.1210A>C)
c.7628A>C (p.Glu2543Ala)
c.893A>C (p.Glu298Ala)
n.1149A>C
c.7808A>C (p.Glu2603Ala)
c.7742A>C (p.Glu2581Ala)
c.7805A>C (p.Glu2602Ala)
c.7802A>C (p.Glu2601Ala)
c.7748A>C (p.Glu2583Ala)
c.7718A>C (p.Glu2573Ala)
c.7673A>C (p.Glu2558Ala)
c.7268A>C (p.Glu2423Ala)
c.6626A>C (p.Glu2209Ala)
c.4136A>C (p.Glu1379Ala)
10g.71803028A>GCA5546387CDH23c.7613A>G (p.Glu2538Gly)
c.1546A>G (n.1546A>G)
c.1210A>G (n.1210A>G)
c.7628A>G (p.Glu2543Gly)
c.893A>G (p.Glu298Gly)
n.1149A>G
c.7808A>G (p.Glu2603Gly)
c.7742A>G (p.Glu2581Gly)
c.7805A>G (p.Glu2602Gly)
c.7802A>G (p.Glu2601Gly)
c.7748A>G (p.Glu2583Gly)
c.7718A>G (p.Glu2573Gly)
c.7673A>G (p.Glu2558Gly)
c.7268A>G (p.Glu2423Gly)
c.6626A>G (p.Glu2209Gly)
c.4136A>G (p.Glu1379Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71803028A>TCA377160850CDH23c.7613A>T (p.Glu2538Val)
c.1546A>T (n.1546A>T)
c.1210A>T (n.1210A>T)
c.7628A>T (p.Glu2543Val)
c.893A>T (p.Glu298Val)
n.1149A>T
c.7808A>T (p.Glu2603Val)
c.7742A>T (p.Glu2581Val)
c.7805A>T (p.Glu2602Val)
c.7802A>T (p.Glu2601Val)
c.7748A>T (p.Glu2583Val)
c.7718A>T (p.Glu2573Val)
c.7673A>T (p.Glu2558Val)
c.7268A>T (p.Glu2423Val)
c.6626A>T (p.Glu2209Val)
c.4136A>T (p.Glu1379Val)
10g.71803029A>CCA377160852CDH23c.7614A>C (p.Glu2538Asp)
c.1547A>C (n.1547A>C)
c.1211A>C (n.1211A>C)
c.7629A>C (p.Glu2543Asp)
c.894A>C (p.Glu298Asp)
n.1150A>C
c.7809A>C (p.Glu2603Asp)
c.7743A>C (p.Glu2581Asp)
c.7806A>C (p.Glu2602Asp)
c.7803A>C (p.Glu2601Asp)
c.7749A>C (p.Glu2583Asp)
c.7719A>C (p.Glu2573Asp)
c.7674A>C (p.Glu2558Asp)
c.7269A>C (p.Glu2423Asp)
c.6627A>C (p.Glu2209Asp)
c.4137A>C (p.Glu1379Asp)
10g.71803029A>GCA470062512CDH23c.7614A>G (p.Glu2538=)
c.1547A>G (n.1547A>G)
c.1211A>G (n.1211A>G)
c.7629A>G (p.Glu2543=)
c.894A>G (p.Glu298=)
n.1150A>G
c.7809A>G (p.Glu2603=)
c.7743A>G (p.Glu2581=)
c.7806A>G (p.Glu2602=)
c.7803A>G (p.Glu2601=)
c.7749A>G (p.Glu2583=)
c.7719A>G (p.Glu2573=)
c.7674A>G (p.Glu2558=)
c.7269A>G (p.Glu2423=)
c.6627A>G (p.Glu2209=)
c.4137A>G (p.Glu1379=)
10g.71803029A>TCA377160853CDH23c.7614A>T (p.Glu2538Asp)
c.1547A>T (n.1547A>T)
c.1211A>T (n.1211A>T)
c.7629A>T (p.Glu2543Asp)
c.894A>T (p.Glu298Asp)
n.1150A>T
c.7809A>T (p.Glu2603Asp)
c.7743A>T (p.Glu2581Asp)
c.7806A>T (p.Glu2602Asp)
c.7803A>T (p.Glu2601Asp)
c.7749A>T (p.Glu2583Asp)
c.7719A>T (p.Glu2573Asp)
c.7674A>T (p.Glu2558Asp)
c.7269A>T (p.Glu2423Asp)
c.6627A>T (p.Glu2209Asp)
c.4137A>T (p.Glu1379Asp)
10g.71803030G>ACA377160854CDH23c.7615G>A (p.Gly2539Ser)
c.1548G>A (n.1548G>A)
c.1212G>A (n.1212G>A)
c.7630G>A (p.Gly2544Ser)
c.895G>A (p.Gly299Ser)
n.1151G>A
c.7810G>A (p.Gly2604Ser)
c.7744G>A (p.Gly2582Ser)
c.7807G>A (p.Gly2603Ser)
c.7804G>A (p.Gly2602Ser)
c.7750G>A (p.Gly2584Ser)
c.7720G>A (p.Gly2574Ser)
c.7675G>A (p.Gly2559Ser)
c.7270G>A (p.Gly2424Ser)
c.6628G>A (p.Gly2210Ser)
c.4138G>A (p.Gly1380Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71803030G>CCA137577CDH23c.7615G>C (p.Gly2539Arg)
c.1548G>C (n.1548G>C)
c.1212G>C (n.1212G>C)
c.7630G>C (p.Gly2544Arg)
c.895G>C (p.Gly299Arg)
n.1151G>C
c.7810G>C (p.Gly2604Arg)
c.7744G>C (p.Gly2582Arg)
c.7807G>C (p.Gly2603Arg)
c.7804G>C (p.Gly2602Arg)
c.7750G>C (p.Gly2584Arg)
c.7720G>C (p.Gly2574Arg)
c.7675G>C (p.Gly2559Arg)
c.7270G>C (p.Gly2424Arg)
c.6628G>C (p.Gly2210Arg)
c.4138G>C (p.Gly1380Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71803030G=CA1918880440CDH23c.7615G= (p.Gly2539=)
c.1548G= (n.1548G=)
c.1212G= (n.1212G=)
c.7630G= (p.Gly2544=)
c.895G= (p.Gly299=)
n.1151G=
c.7810G= (p.Gly2604=)
c.7744G= (p.Gly2582=)
c.7807G= (p.Gly2603=)
c.7804G= (p.Gly2602=)
c.7750G= (p.Gly2584=)
c.7720G= (p.Gly2574=)
c.7675G= (p.Gly2559=)
c.7270G= (p.Gly2424=)
c.6628G= (p.Gly2210=)
c.4138G= (p.Gly1380=)
10g.71803030G>TCA377160855CDH23c.7615G>T (p.Gly2539Cys)
c.1548G>T (n.1548G>T)
c.1212G>T (n.1212G>T)
c.7630G>T (p.Gly2544Cys)
c.895G>T (p.Gly299Cys)
n.1151G>T
c.7810G>T (p.Gly2604Cys)
c.7744G>T (p.Gly2582Cys)
c.7807G>T (p.Gly2603Cys)
c.7804G>T (p.Gly2602Cys)
c.7750G>T (p.Gly2584Cys)
c.7720G>T (p.Gly2574Cys)
c.7675G>T (p.Gly2559Cys)
c.7270G>T (p.Gly2424Cys)
c.6628G>T (p.Gly2210Cys)
c.4138G>T (p.Gly1380Cys)
 gnomAD v4
10g.71803031G>ACA377160856CDH23c.7616G>A (p.Gly2539Asp)
c.1549G>A (n.1549G>A)
c.1213G>A (n.1213G>A)
c.7631G>A (p.Gly2544Asp)
c.896G>A (p.Gly299Asp)
n.1152G>A
c.7811G>A (p.Gly2604Asp)
c.7745G>A (p.Gly2582Asp)
c.7808G>A (p.Gly2603Asp)
c.7805G>A (p.Gly2602Asp)
c.7751G>A (p.Gly2584Asp)
c.7721G>A (p.Gly2574Asp)
c.7676G>A (p.Gly2559Asp)
c.7271G>A (p.Gly2424Asp)
c.6629G>A (p.Gly2210Asp)
c.4139G>A (p.Gly1380Asp)
10g.71803031G>CCA377160857CDH23c.7616G>C (p.Gly2539Ala)
c.1549G>C (n.1549G>C)
c.1213G>C (n.1213G>C)
c.7631G>C (p.Gly2544Ala)
c.896G>C (p.Gly299Ala)
n.1152G>C
c.7811G>C (p.Gly2604Ala)
c.7745G>C (p.Gly2582Ala)
c.7808G>C (p.Gly2603Ala)
c.7805G>C (p.Gly2602Ala)
c.7751G>C (p.Gly2584Ala)
c.7721G>C (p.Gly2574Ala)
c.7676G>C (p.Gly2559Ala)
c.7271G>C (p.Gly2424Ala)
c.6629G>C (p.Gly2210Ala)
c.4139G>C (p.Gly1380Ala)
 ClinVar dbSNP
10g.71803031G=CA1918880441CDH23c.7616G= (p.Gly2539=)
c.1549G= (n.1549G=)
c.1213G= (n.1213G=)
c.7631G= (p.Gly2544=)
c.896G= (p.Gly299=)
n.1152G=
c.7811G= (p.Gly2604=)
c.7745G= (p.Gly2582=)
c.7808G= (p.Gly2603=)
c.7805G= (p.Gly2602=)
c.7751G= (p.Gly2584=)
c.7721G= (p.Gly2574=)
c.7676G= (p.Gly2559=)
c.7271G= (p.Gly2424=)
c.6629G= (p.Gly2210=)
c.4139G= (p.Gly1380=)
10g.71803031G>TCA377160858CDH23c.7616G>T (p.Gly2539Val)
c.1549G>T (n.1549G>T)
c.1213G>T (n.1213G>T)
c.7631G>T (p.Gly2544Val)
c.896G>T (p.Gly299Val)
n.1152G>T
c.7811G>T (p.Gly2604Val)
c.7745G>T (p.Gly2582Val)
c.7808G>T (p.Gly2603Val)
c.7805G>T (p.Gly2602Val)
c.7751G>T (p.Gly2584Val)
c.7721G>T (p.Gly2574Val)
c.7676G>T (p.Gly2559Val)
c.7271G>T (p.Gly2424Val)
c.6629G>T (p.Gly2210Val)
c.4139G>T (p.Gly1380Val)
10g.71803032T>ACA470062513CDH23c.7617T>A (p.Gly2539=)
c.1550T>A (n.1550T>A)
c.1214T>A (n.1214T>A)
c.7632T>A (p.Gly2544=)
c.897T>A (p.Gly299=)
n.1153T>A
c.7812T>A (p.Gly2604=)
c.7746T>A (p.Gly2582=)
c.7809T>A (p.Gly2603=)
c.7806T>A (p.Gly2602=)
c.7752T>A (p.Gly2584=)
c.7722T>A (p.Gly2574=)
c.7677T>A (p.Gly2559=)
c.7272T>A (p.Gly2424=)
c.6630T>A (p.Gly2210=)
c.4140T>A (p.Gly1380=)
10g.71803032T>CCA470062514CDH23c.7617T>C (p.Gly2539=)
c.1550T>C (n.1550T>C)
c.1214T>C (n.1214T>C)
c.7632T>C (p.Gly2544=)
c.897T>C (p.Gly299=)
n.1153T>C
c.7812T>C (p.Gly2604=)
c.7746T>C (p.Gly2582=)
c.7809T>C (p.Gly2603=)
c.7806T>C (p.Gly2602=)
c.7752T>C (p.Gly2584=)
c.7722T>C (p.Gly2574=)
c.7677T>C (p.Gly2559=)
c.7272T>C (p.Gly2424=)
c.6630T>C (p.Gly2210=)
c.4140T>C (p.Gly1380=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71803032T>GCA470062515CDH23c.7617T>G (p.Gly2539=)
c.1550T>G (n.1550T>G)
c.1214T>G (n.1214T>G)
c.7632T>G (p.Gly2544=)
c.897T>G (p.Gly299=)
n.1153T>G
c.7812T>G (p.Gly2604=)
c.7746T>G (p.Gly2582=)
c.7809T>G (p.Gly2603=)
c.7806T>G (p.Gly2602=)
c.7752T>G (p.Gly2584=)
c.7722T>G (p.Gly2574=)
c.7677T>G (p.Gly2559=)
c.7272T>G (p.Gly2424=)
c.6630T>G (p.Gly2210=)
c.4140T>G (p.Gly1380=)
10g.71803032T=CA1918880442CDH23c.7617T= (p.Gly2539=)
c.1550T= (n.1550T=)
c.1214T= (n.1214T=)
c.7632T= (p.Gly2544=)
c.897T= (p.Gly299=)
n.1153T=
c.7812T= (p.Gly2604=)
c.7746T= (p.Gly2582=)
c.7809T= (p.Gly2603=)
c.7806T= (p.Gly2602=)
c.7752T= (p.Gly2584=)
c.7722T= (p.Gly2574=)
c.7677T= (p.Gly2559=)
c.7272T= (p.Gly2424=)
c.6630T= (p.Gly2210=)
c.4140T= (p.Gly1380=)
10g.71803033C>ACA377160859CDH23c.7618C>A (p.Pro2540Thr)
c.1551C>A (n.1551C>A)
c.1215C>A (n.1215C>A)
c.7633C>A (p.Pro2545Thr)
c.898C>A (p.Pro300Thr)
n.1154C>A
c.7813C>A (p.Pro2605Thr)
c.7747C>A (p.Pro2583Thr)
c.7810C>A (p.Pro2604Thr)
c.7807C>A (p.Pro2603Thr)
c.7753C>A (p.Pro2585Thr)
c.7723C>A (p.Pro2575Thr)
c.7678C>A (p.Pro2560Thr)
c.7273C>A (p.Pro2425Thr)
c.6631C>A (p.Pro2211Thr)
c.4141C>A (p.Pro1381Thr)
 gnomAD v4
10g.71803033C=CA1918880443CDH23c.7618C= (p.Pro2540=)
c.1551C= (n.1551C=)
c.1215C= (n.1215C=)
c.7633C= (p.Pro2545=)
c.898C= (p.Pro300=)
n.1154C=
c.7813C= (p.Pro2605=)
c.7747C= (p.Pro2583=)
c.7810C= (p.Pro2604=)
c.7807C= (p.Pro2603=)
c.7753C= (p.Pro2585=)
c.7723C= (p.Pro2575=)
c.7678C= (p.Pro2560=)
c.7273C= (p.Pro2425=)
c.6631C= (p.Pro2211=)
c.4141C= (p.Pro1381=)
10g.71803033C>GCA377160860CDH23c.7618C>G (p.Pro2540Ala)
c.1551C>G (n.1551C>G)
c.1215C>G (n.1215C>G)
c.7633C>G (p.Pro2545Ala)
c.898C>G (p.Pro300Ala)
n.1154C>G
c.7813C>G (p.Pro2605Ala)
c.7747C>G (p.Pro2583Ala)
c.7810C>G (p.Pro2604Ala)
c.7807C>G (p.Pro2603Ala)
c.7753C>G (p.Pro2585Ala)
c.7723C>G (p.Pro2575Ala)
c.7678C>G (p.Pro2560Ala)
c.7273C>G (p.Pro2425Ala)
c.6631C>G (p.Pro2211Ala)
c.4141C>G (p.Pro1381Ala)
10g.71803033C>TCA5546388CDH23c.7618C>T (p.Pro2540Ser)
c.1551C>T (n.1551C>T)
c.1215C>T (n.1215C>T)
c.7633C>T (p.Pro2545Ser)
c.898C>T (p.Pro300Ser)
n.1154C>T
c.7813C>T (p.Pro2605Ser)
c.7747C>T (p.Pro2583Ser)
c.7810C>T (p.Pro2604Ser)
c.7807C>T (p.Pro2603Ser)
c.7753C>T (p.Pro2585Ser)
c.7723C>T (p.Pro2575Ser)
c.7678C>T (p.Pro2560Ser)
c.7273C>T (p.Pro2425Ser)
c.6631C>T (p.Pro2211Ser)
c.4141C>T (p.Pro1381Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71803034C>ACA377160861CDH23c.7619C>A (p.Pro2540His)
c.1552C>A (n.1552C>A)
c.1216C>A (n.1216C>A)
c.7634C>A (p.Pro2545His)
c.899C>A (p.Pro300His)
n.1155C>A
c.7814C>A (p.Pro2605His)
c.7748C>A (p.Pro2583His)
c.7811C>A (p.Pro2604His)
c.7808C>A (p.Pro2603His)
c.7754C>A (p.Pro2585His)
c.7724C>A (p.Pro2575His)
c.7679C>A (p.Pro2560His)
c.7274C>A (p.Pro2425His)
c.6632C>A (p.Pro2211His)
c.4142C>A (p.Pro1381His)
10g.71803034C>GCA377160862CDH23c.7619C>G (p.Pro2540Arg)
c.1552C>G (n.1552C>G)
c.1216C>G (n.1216C>G)
c.7634C>G (p.Pro2545Arg)
c.899C>G (p.Pro300Arg)
n.1155C>G
c.7814C>G (p.Pro2605Arg)
c.7748C>G (p.Pro2583Arg)
c.7811C>G (p.Pro2604Arg)
c.7808C>G (p.Pro2603Arg)
c.7754C>G (p.Pro2585Arg)
c.7724C>G (p.Pro2575Arg)
c.7679C>G (p.Pro2560Arg)
c.7274C>G (p.Pro2425Arg)
c.6632C>G (p.Pro2211Arg)
c.4142C>G (p.Pro1381Arg)
10g.71803034C>TCA377160863CDH23c.7619C>T (p.Pro2540Leu)
c.1552C>T (n.1552C>T)
c.1216C>T (n.1216C>T)
c.7634C>T (p.Pro2545Leu)
c.899C>T (p.Pro300Leu)
n.1155C>T
c.7814C>T (p.Pro2605Leu)
c.7748C>T (p.Pro2583Leu)
c.7811C>T (p.Pro2604Leu)
c.7808C>T (p.Pro2603Leu)
c.7754C>T (p.Pro2585Leu)
c.7724C>T (p.Pro2575Leu)
c.7679C>T (p.Pro2560Leu)
c.7274C>T (p.Pro2425Leu)
c.6632C>T (p.Pro2211Leu)
c.4142C>T (p.Pro1381Leu)
10g.71803035C>ACA470062516CDH23c.7620C>A (p.Pro2540=)
c.1553C>A (n.1553C>A)
c.1217C>A (n.1217C>A)
c.7635C>A (p.Pro2545=)
c.900C>A (p.Pro300=)
n.1156C>A
c.7815C>A (p.Pro2605=)
c.7749C>A (p.Pro2583=)
c.7812C>A (p.Pro2604=)
c.7809C>A (p.Pro2603=)
c.7755C>A (p.Pro2585=)
c.7725C>A (p.Pro2575=)
c.7680C>A (p.Pro2560=)
c.7275C>A (p.Pro2425=)
c.6633C>A (p.Pro2211=)
c.4143C>A (p.Pro1381=)
 dbSNP
10g.71803035C=CA1918880444CDH23c.7620C= (p.Pro2540=)
c.1553C= (n.1553C=)
c.1217C= (n.1217C=)
c.7635C= (p.Pro2545=)
c.900C= (p.Pro300=)
n.1156C=
c.7815C= (p.Pro2605=)
c.7749C= (p.Pro2583=)
c.7812C= (p.Pro2604=)
c.7809C= (p.Pro2603=)
c.7755C= (p.Pro2585=)
c.7725C= (p.Pro2575=)
c.7680C= (p.Pro2560=)
c.7275C= (p.Pro2425=)
c.6633C= (p.Pro2211=)
c.4143C= (p.Pro1381=)
10g.71803035C>GCA470062517CDH23c.7620C>G (p.Pro2540=)
c.1553C>G (n.1553C>G)
c.1217C>G (n.1217C>G)
c.7635C>G (p.Pro2545=)
c.900C>G (p.Pro300=)
n.1156C>G
c.7815C>G (p.Pro2605=)
c.7749C>G (p.Pro2583=)
c.7812C>G (p.Pro2604=)
c.7809C>G (p.Pro2603=)
c.7755C>G (p.Pro2585=)
c.7725C>G (p.Pro2575=)
c.7680C>G (p.Pro2560=)
c.7275C>G (p.Pro2425=)
c.6633C>G (p.Pro2211=)
c.4143C>G (p.Pro1381=)
10g.71803035C>TCA470062518CDH23c.7620C>T (p.Pro2540=)
c.1553C>T (n.1553C>T)
c.1217C>T (n.1217C>T)
c.7635C>T (p.Pro2545=)
c.900C>T (p.Pro300=)
n.1156C>T
c.7815C>T (p.Pro2605=)
c.7749C>T (p.Pro2583=)
c.7812C>T (p.Pro2604=)
c.7809C>T (p.Pro2603=)
c.7755C>T (p.Pro2585=)
c.7725C>T (p.Pro2575=)
c.7680C>T (p.Pro2560=)
c.7275C>T (p.Pro2425=)
c.6633C>T (p.Pro2211=)
c.4143C>T (p.Pro1381=)
10g.71803036A>CCA377160865CDH23c.7621A>C (p.Asn2541His)
c.1554A>C (n.1554A>C)
c.1218A>C (n.1218A>C)
c.7636A>C (p.Asn2546His)
c.901A>C (p.Asn301His)
n.1157A>C
c.7816A>C (p.Asn2606His)
c.7750A>C (p.Asn2584His)
c.7813A>C (p.Asn2605His)
c.7810A>C (p.Asn2604His)
c.7756A>C (p.Asn2586His)
c.7726A>C (p.Asn2576His)
c.7681A>C (p.Asn2561His)
c.7276A>C (p.Asn2426His)
c.6634A>C (p.Asn2212His)
c.4144A>C (p.Asn1382His)
10g.71803036A>GCA377160866CDH23c.7621A>G (p.Asn2541Asp)
c.1554A>G (n.1554A>G)
c.1218A>G (n.1218A>G)
c.7636A>G (p.Asn2546Asp)
c.901A>G (p.Asn301Asp)
n.1157A>G
c.7816A>G (p.Asn2606Asp)
c.7750A>G (p.Asn2584Asp)
c.7813A>G (p.Asn2605Asp)
c.7810A>G (p.Asn2604Asp)
c.7756A>G (p.Asn2586Asp)
c.7726A>G (p.Asn2576Asp)
c.7681A>G (p.Asn2561Asp)
c.7276A>G (p.Asn2426Asp)
c.6634A>G (p.Asn2212Asp)
c.4144A>G (p.Asn1382Asp)
10g.71803036A>TCA377160864CDH23c.7621A>T (p.Asn2541Tyr)
c.1554A>T (n.1554A>T)
c.1218A>T (n.1218A>T)
c.7636A>T (p.Asn2546Tyr)
c.901A>T (p.Asn301Tyr)
n.1157A>T
c.7816A>T (p.Asn2606Tyr)
c.7750A>T (p.Asn2584Tyr)
c.7813A>T (p.Asn2605Tyr)
c.7810A>T (p.Asn2604Tyr)
c.7756A>T (p.Asn2586Tyr)
c.7726A>T (p.Asn2576Tyr)
c.7681A>T (p.Asn2561Tyr)
c.7276A>T (p.Asn2426Tyr)
c.6634A>T (p.Asn2212Tyr)
c.4144A>T (p.Asn1382Tyr)
10g.71803037A=CA1918880445CDH23c.7622A= (p.Asn2541=)
c.1555A= (n.1555A=)
c.1219A= (n.1219A=)
c.7637A= (p.Asn2546=)
c.902A= (p.Asn301=)
n.1158A=
c.7817A= (p.Asn2606=)
c.7751A= (p.Asn2584=)
c.7814A= (p.Asn2605=)
c.7811A= (p.Asn2604=)
c.7757A= (p.Asn2586=)
c.7727A= (p.Asn2576=)
c.7682A= (p.Asn2561=)
c.7277A= (p.Asn2426=)
c.6635A= (p.Asn2212=)
c.4145A= (p.Asn1382=)
10g.71803037A>CCA377160867CDH23c.7622A>C (p.Asn2541Thr)
c.1555A>C (n.1555A>C)
c.1219A>C (n.1219A>C)
c.7637A>C (p.Asn2546Thr)
c.902A>C (p.Asn301Thr)
n.1158A>C
c.7817A>C (p.Asn2606Thr)
c.7751A>C (p.Asn2584Thr)
c.7814A>C (p.Asn2605Thr)
c.7811A>C (p.Asn2604Thr)
c.7757A>C (p.Asn2586Thr)
c.7727A>C (p.Asn2576Thr)
c.7682A>C (p.Asn2561Thr)
c.7277A>C (p.Asn2426Thr)
c.6635A>C (p.Asn2212Thr)
c.4145A>C (p.Asn1382Thr)
10g.71803037A>GCA5546389CDH23c.7622A>G (p.Asn2541Ser)
c.1555A>G (n.1555A>G)
c.1219A>G (n.1219A>G)
c.7637A>G (p.Asn2546Ser)
c.902A>G (p.Asn301Ser)
n.1158A>G
c.7817A>G (p.Asn2606Ser)
c.7751A>G (p.Asn2584Ser)
c.7814A>G (p.Asn2605Ser)
c.7811A>G (p.Asn2604Ser)
c.7757A>G (p.Asn2586Ser)
c.7727A>G (p.Asn2576Ser)
c.7682A>G (p.Asn2561Ser)
c.7277A>G (p.Asn2426Ser)
c.6635A>G (p.Asn2212Ser)
c.4145A>G (p.Asn1382Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71803037A>TCA377160868CDH23c.7622A>T (p.Asn2541Ile)
c.1555A>T (n.1555A>T)
c.1219A>T (n.1219A>T)
c.7637A>T (p.Asn2546Ile)
c.902A>T (p.Asn301Ile)
n.1158A>T
c.7817A>T (p.Asn2606Ile)
c.7751A>T (p.Asn2584Ile)
c.7814A>T (p.Asn2605Ile)
c.7811A>T (p.Asn2604Ile)
c.7757A>T (p.Asn2586Ile)
c.7727A>T (p.Asn2576Ile)
c.7682A>T (p.Asn2561Ile)
c.7277A>T (p.Asn2426Ile)
c.6635A>T (p.Asn2212Ile)
c.4145A>T (p.Asn1382Ile)
10g.71803038T>ACA377160869CDH23c.7623T>A (p.Asn2541Lys)
c.1556T>A (n.1556T>A)
c.1220T>A (n.1220T>A)
c.7638T>A (p.Asn2546Lys)
c.903T>A (p.Asn301Lys)
n.1159T>A
c.7818T>A (p.Asn2606Lys)
c.7752T>A (p.Asn2584Lys)
c.7815T>A (p.Asn2605Lys)
c.7812T>A (p.Asn2604Lys)
c.7758T>A (p.Asn2586Lys)
c.7728T>A (p.Asn2576Lys)
c.7683T>A (p.Asn2561Lys)
c.7278T>A (p.Asn2426Lys)
c.6636T>A (p.Asn2212Lys)
c.4146T>A (p.Asn1382Lys)
10g.71803038T>CCA470062519CDH23c.7623T>C (p.Asn2541=)
c.1556T>C (n.1556T>C)
c.1220T>C (n.1220T>C)
c.7638T>C (p.Asn2546=)
c.903T>C (p.Asn301=)
n.1159T>C
c.7818T>C (p.Asn2606=)
c.7752T>C (p.Asn2584=)
c.7815T>C (p.Asn2605=)
c.7812T>C (p.Asn2604=)
c.7758T>C (p.Asn2586=)
c.7728T>C (p.Asn2576=)
c.7683T>C (p.Asn2561=)
c.7278T>C (p.Asn2426=)
c.6636T>C (p.Asn2212=)
c.4146T>C (p.Asn1382=)
 ClinVar
10g.71803038T>GCA377160870CDH23c.7623T>G (p.Asn2541Lys)
c.1556T>G (n.1556T>G)
c.1220T>G (n.1220T>G)
c.7638T>G (p.Asn2546Lys)
c.903T>G (p.Asn301Lys)
n.1159T>G
c.7818T>G (p.Asn2606Lys)
c.7752T>G (p.Asn2584Lys)
c.7815T>G (p.Asn2605Lys)
c.7812T>G (p.Asn2604Lys)
c.7758T>G (p.Asn2586Lys)
c.7728T>G (p.Asn2576Lys)
c.7683T>G (p.Asn2561Lys)
c.7278T>G (p.Asn2426Lys)
c.6636T>G (p.Asn2212Lys)
c.4146T>G (p.Asn1382Lys)
10g.71803039_71803045delCA2695199543CDH23c.7624_7630del (p.Gly2542Ter)
c.1557_1563del (n.1557_1563del)
c.1221_1227del (n.1221_1227del)
c.7639_7645del (p.Gly2547Ter)
c.904_910del (p.Gly302Ter)
n.1160_1166del
c.7819_7825del (p.Gly2607Ter)
c.7753_7759del (p.Gly2585Ter)
c.7816_7822del (p.Gly2606Ter)
c.7813_7819del (p.Gly2605Ter)
c.7759_7765del (p.Gly2587Ter)
c.7729_7735del (p.Gly2577Ter)
c.7684_7690del (p.Gly2562Ter)
c.7279_7285del (p.Gly2427Ter)
c.6637_6643del (p.Gly2213Ter)
c.4147_4153del (p.Gly1383Ter)
 ClinVar
10g.71803039G>ACA377160873CDH23c.7624G>A (p.Gly2542Arg)
c.1557G>A (n.1557G>A)
c.1221G>A (n.1221G>A)
c.7639G>A (p.Gly2547Arg)
c.904G>A (p.Gly302Arg)
n.1160G>A
c.7819G>A (p.Gly2607Arg)
c.7753G>A (p.Gly2585Arg)
c.7816G>A (p.Gly2606Arg)
c.7813G>A (p.Gly2605Arg)
c.7759G>A (p.Gly2587Arg)
c.7729G>A (p.Gly2577Arg)
c.7684G>A (p.Gly2562Arg)
c.7279G>A (p.Gly2427Arg)
c.6637G>A (p.Gly2213Arg)
c.4147G>A (p.Gly1383Arg)
10g.71803039G>CCA377160872CDH23c.7624G>C (p.Gly2542Arg)
c.1557G>C (n.1557G>C)
c.1221G>C (n.1221G>C)
c.7639G>C (p.Gly2547Arg)
c.904G>C (p.Gly302Arg)
n.1160G>C
c.7819G>C (p.Gly2607Arg)
c.7753G>C (p.Gly2585Arg)
c.7816G>C (p.Gly2606Arg)
c.7813G>C (p.Gly2605Arg)
c.7759G>C (p.Gly2587Arg)
c.7729G>C (p.Gly2577Arg)
c.7684G>C (p.Gly2562Arg)
c.7279G>C (p.Gly2427Arg)
c.6637G>C (p.Gly2213Arg)
c.4147G>C (p.Gly1383Arg)
10g.71803039G>TCA377160871CDH23c.7624G>T (p.Gly2542Ter)
c.1557G>T (n.1557G>T)
c.1221G>T (n.1221G>T)
c.7639G>T (p.Gly2547Ter)
c.904G>T (p.Gly302Ter)
n.1160G>T
c.7819G>T (p.Gly2607Ter)
c.7753G>T (p.Gly2585Ter)
c.7816G>T (p.Gly2606Ter)
c.7813G>T (p.Gly2605Ter)
c.7759G>T (p.Gly2587Ter)
c.7729G>T (p.Gly2577Ter)
c.7684G>T (p.Gly2562Ter)
c.7279G>T (p.Gly2427Ter)
c.6637G>T (p.Gly2213Ter)
c.4147G>T (p.Gly1383Ter)
10g.71803040G>ACA377160874CDH23c.7625G>A (p.Gly2542Glu)
c.1558G>A (n.1558G>A)
c.1222G>A (n.1222G>A)
c.7640G>A (p.Gly2547Glu)
c.905G>A (p.Gly302Glu)
n.1161G>A
c.7820G>A (p.Gly2607Glu)
c.7754G>A (p.Gly2585Glu)
c.7817G>A (p.Gly2606Glu)
c.7814G>A (p.Gly2605Glu)
c.7760G>A (p.Gly2587Glu)
c.7730G>A (p.Gly2577Glu)
c.7685G>A (p.Gly2562Glu)
c.7280G>A (p.Gly2427Glu)
c.6638G>A (p.Gly2213Glu)
c.4148G>A (p.Gly1383Glu)
10g.71803040G>CCA377160875CDH23c.7625G>C (p.Gly2542Ala)
c.1558G>C (n.1558G>C)
c.1222G>C (n.1222G>C)
c.7640G>C (p.Gly2547Ala)
c.905G>C (p.Gly302Ala)
n.1161G>C
c.7820G>C (p.Gly2607Ala)
c.7754G>C (p.Gly2585Ala)
c.7817G>C (p.Gly2606Ala)
c.7814G>C (p.Gly2605Ala)
c.7760G>C (p.Gly2587Ala)
c.7730G>C (p.Gly2577Ala)
c.7685G>C (p.Gly2562Ala)
c.7280G>C (p.Gly2427Ala)
c.6638G>C (p.Gly2213Ala)
c.4148G>C (p.Gly1383Ala)
 gnomAD v4
10g.71803040G>TCA377160876CDH23c.7625G>T (p.Gly2542Val)
c.1558G>T (n.1558G>T)
c.1222G>T (n.1222G>T)
c.7640G>T (p.Gly2547Val)
c.905G>T (p.Gly302Val)
n.1161G>T
c.7820G>T (p.Gly2607Val)
c.7754G>T (p.Gly2585Val)
c.7817G>T (p.Gly2606Val)
c.7814G>T (p.Gly2605Val)
c.7760G>T (p.Gly2587Val)
c.7730G>T (p.Gly2577Val)
c.7685G>T (p.Gly2562Val)
c.7280G>T (p.Gly2427Val)
c.6638G>T (p.Gly2213Val)
c.4148G>T (p.Gly1383Val)
10g.71803041A>CCA470062520CDH23c.7626A>C (p.Gly2542=)
c.1559A>C (n.1559A>C)
c.1223A>C (n.1223A>C)
c.7641A>C (p.Gly2547=)
c.906A>C (p.Gly302=)
n.1162A>C
c.7821A>C (p.Gly2607=)
c.7755A>C (p.Gly2585=)
c.7818A>C (p.Gly2606=)
c.7815A>C (p.Gly2605=)
c.7761A>C (p.Gly2587=)
c.7731A>C (p.Gly2577=)
c.7686A>C (p.Gly2562=)
c.7281A>C (p.Gly2427=)
c.6639A>C (p.Gly2213=)
c.4149A>C (p.Gly1383=)
10g.71803041A>GCA470062521CDH23c.7626A>G (p.Gly2542=)
c.1559A>G (n.1559A>G)
c.1223A>G (n.1223A>G)
c.7641A>G (p.Gly2547=)
c.906A>G (p.Gly302=)
n.1162A>G
c.7821A>G (p.Gly2607=)
c.7755A>G (p.Gly2585=)
c.7818A>G (p.Gly2606=)
c.7815A>G (p.Gly2605=)
c.7761A>G (p.Gly2587=)
c.7731A>G (p.Gly2577=)
c.7686A>G (p.Gly2562=)
c.7281A>G (p.Gly2427=)
c.6639A>G (p.Gly2213=)
c.4149A>G (p.Gly1383=)
10g.71803041A>TCA470062522CDH23c.7626A>T (p.Gly2542=)
c.1559A>T (n.1559A>T)
c.1223A>T (n.1223A>T)
c.7641A>T (p.Gly2547=)
c.906A>T (p.Gly302=)
n.1162A>T
c.7821A>T (p.Gly2607=)
c.7755A>T (p.Gly2585=)
c.7818A>T (p.Gly2606=)
c.7815A>T (p.Gly2605=)
c.7761A>T (p.Gly2587=)
c.7731A>T (p.Gly2577=)
c.7686A>T (p.Gly2562=)
c.7281A>T (p.Gly2427=)
c.6639A>T (p.Gly2213=)
c.4149A>T (p.Gly1383=)
 COSMIC
10g.71803042G>ACA377160877CDH23c.7627G>A (p.Glu2543Lys)
c.1560G>A (n.1560G>A)
c.1224G>A (n.1224G>A)
c.7642G>A (p.Glu2548Lys)
c.907G>A (p.Glu303Lys)
n.1163G>A
c.7822G>A (p.Glu2608Lys)
c.7756G>A (p.Glu2586Lys)
c.7819G>A (p.Glu2607Lys)
c.7816G>A (p.Glu2606Lys)
c.7762G>A (p.Glu2588Lys)
c.7732G>A (p.Glu2578Lys)
c.7687G>A (p.Glu2563Lys)
c.7282G>A (p.Glu2428Lys)
c.6640G>A (p.Glu2214Lys)
c.4150G>A (p.Glu1384Lys)
 gnomAD v4
10g.71803042G>CCA377160878CDH23c.7627G>C (p.Glu2543Gln)
c.1560G>C (n.1560G>C)
c.1224G>C (n.1224G>C)
c.7642G>C (p.Glu2548Gln)
c.907G>C (p.Glu303Gln)
n.1163G>C
c.7822G>C (p.Glu2608Gln)
c.7756G>C (p.Glu2586Gln)
c.7819G>C (p.Glu2607Gln)
c.7816G>C (p.Glu2606Gln)
c.7762G>C (p.Glu2588Gln)
c.7732G>C (p.Glu2578Gln)
c.7687G>C (p.Glu2563Gln)
c.7282G>C (p.Glu2428Gln)
c.6640G>C (p.Glu2214Gln)
c.4150G>C (p.Glu1384Gln)
 gnomAD v4
10g.71803042G>TCA377160879CDH23c.7627G>T (p.Glu2543Ter)
c.1560G>T (n.1560G>T)
c.1224G>T (n.1224G>T)
c.7642G>T (p.Glu2548Ter)
c.907G>T (p.Glu303Ter)
n.1163G>T
c.7822G>T (p.Glu2608Ter)
c.7756G>T (p.Glu2586Ter)
c.7819G>T (p.Glu2607Ter)
c.7816G>T (p.Glu2606Ter)
c.7762G>T (p.Glu2588Ter)
c.7732G>T (p.Glu2578Ter)
c.7687G>T (p.Glu2563Ter)
c.7282G>T (p.Glu2428Ter)
c.6640G>T (p.Glu2214Ter)
c.4150G>T (p.Glu1384Ter)
10g.71803043A>CCA377160880CDH23c.7628A>C (p.Glu2543Ala)
c.1561A>C (n.1561A>C)
c.1225A>C (n.1225A>C)
c.7643A>C (p.Glu2548Ala)
c.908A>C (p.Glu303Ala)
n.1164A>C
c.7823A>C (p.Glu2608Ala)
c.7757A>C (p.Glu2586Ala)
c.7820A>C (p.Glu2607Ala)
c.7817A>C (p.Glu2606Ala)
c.7763A>C (p.Glu2588Ala)
c.7733A>C (p.Glu2578Ala)
c.7688A>C (p.Glu2563Ala)
c.7283A>C (p.Glu2428Ala)
c.6641A>C (p.Glu2214Ala)
c.4151A>C (p.Glu1384Ala)
10g.71803043A>GCA377160882CDH23c.7628A>G (p.Glu2543Gly)
c.1561A>G (n.1561A>G)
c.1225A>G (n.1225A>G)
c.7643A>G (p.Glu2548Gly)
c.908A>G (p.Glu303Gly)
n.1164A>G
c.7823A>G (p.Glu2608Gly)
c.7757A>G (p.Glu2586Gly)
c.7820A>G (p.Glu2607Gly)
c.7817A>G (p.Glu2606Gly)
c.7763A>G (p.Glu2588Gly)
c.7733A>G (p.Glu2578Gly)
c.7688A>G (p.Glu2563Gly)
c.7283A>G (p.Glu2428Gly)
c.6641A>G (p.Glu2214Gly)
c.4151A>G (p.Glu1384Gly)
10g.71803043A>TCA377160881CDH23c.7628A>T (p.Glu2543Val)
c.1561A>T (n.1561A>T)
c.1225A>T (n.1225A>T)
c.7643A>T (p.Glu2548Val)
c.908A>T (p.Glu303Val)
n.1164A>T
c.7823A>T (p.Glu2608Val)
c.7757A>T (p.Glu2586Val)
c.7820A>T (p.Glu2607Val)
c.7817A>T (p.Glu2606Val)
c.7763A>T (p.Glu2588Val)
c.7733A>T (p.Glu2578Val)
c.7688A>T (p.Glu2563Val)
c.7283A>T (p.Glu2428Val)
c.6641A>T (p.Glu2214Val)
c.4151A>T (p.Glu1384Val)
10g.71803044G>ACA470062523CDH23c.7629G>A (p.Glu2543=)
c.1562G>A (n.1562G>A)
c.1226G>A (n.1226G>A)
c.7644G>A (p.Glu2548=)
c.909G>A (p.Glu303=)
n.1165G>A
c.7824G>A (p.Glu2608=)
c.7758G>A (p.Glu2586=)
c.7821G>A (p.Glu2607=)
c.7818G>A (p.Glu2606=)
c.7764G>A (p.Glu2588=)
c.7734G>A (p.Glu2578=)
c.7689G>A (p.Glu2563=)
c.7284G>A (p.Glu2428=)
c.6642G>A (p.Glu2214=)
c.4152G>A (p.Glu1384=)
10g.71803044G>CCA377160883CDH23c.7629G>C (p.Glu2543Asp)
c.1562G>C (n.1562G>C)
c.1226G>C (n.1226G>C)
c.7644G>C (p.Glu2548Asp)
c.909G>C (p.Glu303Asp)
n.1165G>C
c.7824G>C (p.Glu2608Asp)
c.7758G>C (p.Glu2586Asp)
c.7821G>C (p.Glu2607Asp)
c.7818G>C (p.Glu2606Asp)
c.7764G>C (p.Glu2588Asp)
c.7734G>C (p.Glu2578Asp)
c.7689G>C (p.Glu2563Asp)
c.7284G>C (p.Glu2428Asp)
c.6642G>C (p.Glu2214Asp)
c.4152G>C (p.Glu1384Asp)
10g.71803044G>TCA377160884CDH23c.7629G>T (p.Glu2543Asp)
c.1562G>T (n.1562G>T)
c.1226G>T (n.1226G>T)
c.7644G>T (p.Glu2548Asp)
c.909G>T (p.Glu303Asp)
n.1165G>T
c.7824G>T (p.Glu2608Asp)
c.7758G>T (p.Glu2586Asp)
c.7821G>T (p.Glu2607Asp)
c.7818G>T (p.Glu2606Asp)
c.7764G>T (p.Glu2588Asp)
c.7734G>T (p.Glu2578Asp)
c.7689G>T (p.Glu2563Asp)
c.7284G>T (p.Glu2428Asp)
c.6642G>T (p.Glu2214Asp)
c.4152G>T (p.Glu1384Asp)
10g.71803045T>ACA377160885CDH23c.7630T>A (p.Leu2544Met)
c.1563T>A (n.1563T>A)
c.1227T>A (n.1227T>A)
c.7645T>A (p.Leu2549Met)
c.910T>A (p.Leu304Met)
n.1166T>A
c.7825T>A (p.Leu2609Met)
c.7759T>A (p.Leu2587Met)
c.7822T>A (p.Leu2608Met)
c.7819T>A (p.Leu2607Met)
c.7765T>A (p.Leu2589Met)
c.7735T>A (p.Leu2579Met)
c.7690T>A (p.Leu2564Met)
c.7285T>A (p.Leu2429Met)
c.6643T>A (p.Leu2215Met)
c.4153T>A (p.Leu1385Met)
10g.71803045T>CCA137579CDH23c.7630T>C (p.Leu2544=)
c.1563T>C (n.1563T>C)
c.1227T>C (n.1227T>C)
c.7645T>C (p.Leu2549=)
c.910T>C (p.Leu304=)
n.1166T>C
c.7825T>C (p.Leu2609=)
c.7759T>C (p.Leu2587=)
c.7822T>C (p.Leu2608=)
c.7819T>C (p.Leu2607=)
c.7765T>C (p.Leu2589=)
c.7735T>C (p.Leu2579=)
c.7690T>C (p.Leu2564=)
c.7285T>C (p.Leu2429=)
c.6643T>C (p.Leu2215=)
c.4153T>C (p.Leu1385=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71803045T>GCA377160889CDH23c.7630T>G (p.Leu2544Val)
c.1563T>G (n.1563T>G)
c.1227T>G (n.1227T>G)
c.7645T>G (p.Leu2549Val)
c.910T>G (p.Leu304Val)
n.1166T>G
c.7825T>G (p.Leu2609Val)
c.7759T>G (p.Leu2587Val)
c.7822T>G (p.Leu2608Val)
c.7819T>G (p.Leu2607Val)
c.7765T>G (p.Leu2589Val)
c.7735T>G (p.Leu2579Val)
c.7690T>G (p.Leu2564Val)
c.7285T>G (p.Leu2429Val)
c.6643T>G (p.Leu2215Val)
c.4153T>G (p.Leu1385Val)
 dbSNP gnomAD v4
10g.71803045T=CA1918880446CDH23c.7630T= (p.Leu2544=)
c.1563T= (n.1563T=)
c.1227T= (n.1227T=)
c.7645T= (p.Leu2549=)
c.910T= (p.Leu304=)
n.1166T=
c.7825T= (p.Leu2609=)
c.7759T= (p.Leu2587=)
c.7822T= (p.Leu2608=)
c.7819T= (p.Leu2607=)
c.7765T= (p.Leu2589=)
c.7735T= (p.Leu2579=)
c.7690T= (p.Leu2564=)
c.7285T= (p.Leu2429=)
c.6643T= (p.Leu2215=)
c.4153T= (p.Leu1385=)
10g.71803046T>ACA377160890CDH23c.7631T>A (p.Leu2544Ter)
c.1564T>A (n.1564T>A)
c.1228T>A (n.1228T>A)
c.7646T>A (p.Leu2549Ter)
c.911T>A (p.Leu304Ter)
n.1167T>A
c.7826T>A (p.Leu2609Ter)
c.7760T>A (p.Leu2587Ter)
c.7823T>A (p.Leu2608Ter)
c.7820T>A (p.Leu2607Ter)
c.7766T>A (p.Leu2589Ter)
c.7736T>A (p.Leu2579Ter)
c.7691T>A (p.Leu2564Ter)
c.7286T>A (p.Leu2429Ter)
c.6644T>A (p.Leu2215Ter)
c.4154T>A (p.Leu1385Ter)
10g.71803046T>CCA377160892CDH23c.7631T>C (p.Leu2544Ser)
c.1564T>C (n.1564T>C)
c.1228T>C (n.1228T>C)
c.7646T>C (p.Leu2549Ser)
c.911T>C (p.Leu304Ser)
n.1167T>C
c.7826T>C (p.Leu2609Ser)
c.7760T>C (p.Leu2587Ser)
c.7823T>C (p.Leu2608Ser)
c.7820T>C (p.Leu2607Ser)
c.7766T>C (p.Leu2589Ser)
c.7736T>C (p.Leu2579Ser)
c.7691T>C (p.Leu2564Ser)
c.7286T>C (p.Leu2429Ser)
c.6644T>C (p.Leu2215Ser)
c.4154T>C (p.Leu1385Ser)
10g.71803046T>GCA377160894CDH23c.7631T>G (p.Leu2544Trp)
c.1564T>G (n.1564T>G)
c.1228T>G (n.1228T>G)
c.7646T>G (p.Leu2549Trp)
c.911T>G (p.Leu304Trp)
n.1167T>G
c.7826T>G (p.Leu2609Trp)
c.7760T>G (p.Leu2587Trp)
c.7823T>G (p.Leu2608Trp)
c.7820T>G (p.Leu2607Trp)
c.7766T>G (p.Leu2589Trp)
c.7736T>G (p.Leu2579Trp)
c.7691T>G (p.Leu2564Trp)
c.7286T>G (p.Leu2429Trp)
c.6644T>G (p.Leu2215Trp)
c.4154T>G (p.Leu1385Trp)
10g.71803047G>ACA5546391CDH23c.7632G>A (p.Leu2544=)
c.1565G>A (n.1565G>A)
c.1229G>A (n.1229G>A)
c.7647G>A (p.Leu2549=)
c.912G>A (p.Leu304=)
n.1168G>A
c.7827G>A (p.Leu2609=)
c.7761G>A (p.Leu2587=)
c.7824G>A (p.Leu2608=)
c.7821G>A (p.Leu2607=)
c.7767G>A (p.Leu2589=)
c.7737G>A (p.Leu2579=)
c.7692G>A (p.Leu2564=)
c.7287G>A (p.Leu2429=)
c.6645G>A (p.Leu2215=)
c.4155G>A (p.Leu1385=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71803047G>CCA377160897CDH23c.7632G>C (p.Leu2544Phe)
c.1565G>C (n.1565G>C)
c.1229G>C (n.1229G>C)
c.7647G>C (p.Leu2549Phe)
c.912G>C (p.Leu304Phe)
n.1168G>C
c.7827G>C (p.Leu2609Phe)
c.7761G>C (p.Leu2587Phe)
c.7824G>C (p.Leu2608Phe)
c.7821G>C (p.Leu2607Phe)
c.7767G>C (p.Leu2589Phe)
c.7737G>C (p.Leu2579Phe)
c.7692G>C (p.Leu2564Phe)
c.7287G>C (p.Leu2429Phe)
c.6645G>C (p.Leu2215Phe)
c.4155G>C (p.Leu1385Phe)
 ClinVar dbSNP gnomAD v4
10g.71803047G=CA1918880447CDH23c.7632G= (p.Leu2544=)
c.1565G= (n.1565G=)
c.1229G= (n.1229G=)
c.7647G= (p.Leu2549=)
c.912G= (p.Leu304=)
n.1168G=
c.7827G= (p.Leu2609=)
c.7761G= (p.Leu2587=)
c.7824G= (p.Leu2608=)
c.7821G= (p.Leu2607=)
c.7767G= (p.Leu2589=)
c.7737G= (p.Leu2579=)
c.7692G= (p.Leu2564=)
c.7287G= (p.Leu2429=)
c.6645G= (p.Leu2215=)
c.4155G= (p.Leu1385=)
10g.71803047G>TCA5546390CDH23c.7632G>T (p.Leu2544Phe)
c.1565G>T (n.1565G>T)
c.1229G>T (n.1229G>T)
c.7647G>T (p.Leu2549Phe)
c.912G>T (p.Leu304Phe)
n.1168G>T
c.7827G>T (p.Leu2609Phe)
c.7761G>T (p.Leu2587Phe)
c.7824G>T (p.Leu2608Phe)
c.7821G>T (p.Leu2607Phe)
c.7767G>T (p.Leu2589Phe)
c.7737G>T (p.Leu2579Phe)
c.7692G>T (p.Leu2564Phe)
c.7287G>T (p.Leu2429Phe)
c.6645G>T (p.Leu2215Phe)
c.4155G>T (p.Leu1385Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71803048A=CA1918880448CDH23c.7633A= (p.Thr2545=)
c.1566A= (n.1566A=)
c.1230A= (n.1230A=)
c.7648A= (p.Thr2550=)
c.913A= (p.Thr305=)
n.1169A=
c.7828A= (p.Thr2610=)
c.7762A= (p.Thr2588=)
c.7825A= (p.Thr2609=)
c.7822A= (p.Thr2608=)
c.7768A= (p.Thr2590=)
c.7738A= (p.Thr2580=)
c.7693A= (p.Thr2565=)
c.7288A= (p.Thr2430=)
c.6646A= (p.Thr2216=)
c.4156A= (p.Thr1386=)
10g.71803048A>CCA377160904CDH23c.7633A>C (p.Thr2545Pro)
c.1566A>C (n.1566A>C)
c.1230A>C (n.1230A>C)
c.7648A>C (p.Thr2550Pro)
c.913A>C (p.Thr305Pro)
n.1169A>C
c.7828A>C (p.Thr2610Pro)
c.7762A>C (p.Thr2588Pro)
c.7825A>C (p.Thr2609Pro)
c.7822A>C (p.Thr2608Pro)
c.7768A>C (p.Thr2590Pro)
c.7738A>C (p.Thr2580Pro)
c.7693A>C (p.Thr2565Pro)
c.7288A>C (p.Thr2430Pro)
c.6646A>C (p.Thr2216Pro)
c.4156A>C (p.Thr1386Pro)
10g.71803048A>GCA377160905CDH23c.7633A>G (p.Thr2545Ala)
c.1566A>G (n.1566A>G)
c.1230A>G (n.1230A>G)
c.7648A>G (p.Thr2550Ala)
c.913A>G (p.Thr305Ala)
n.1169A>G
c.7828A>G (p.Thr2610Ala)
c.7762A>G (p.Thr2588Ala)
c.7825A>G (p.Thr2609Ala)
c.7822A>G (p.Thr2608Ala)
c.7768A>G (p.Thr2590Ala)
c.7738A>G (p.Thr2580Ala)
c.7693A>G (p.Thr2565Ala)
c.7288A>G (p.Thr2430Ala)
c.6646A>G (p.Thr2216Ala)
c.4156A>G (p.Thr1386Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71803048A>TCA377160902CDH23c.7633A>T (p.Thr2545Ser)
c.1566A>T (n.1566A>T)
c.1230A>T (n.1230A>T)
c.7648A>T (p.Thr2550Ser)
c.913A>T (p.Thr305Ser)
n.1169A>T
c.7828A>T (p.Thr2610Ser)
c.7762A>T (p.Thr2588Ser)
c.7825A>T (p.Thr2609Ser)
c.7822A>T (p.Thr2608Ser)
c.7768A>T (p.Thr2590Ser)
c.7738A>T (p.Thr2580Ser)
c.7693A>T (p.Thr2565Ser)
c.7288A>T (p.Thr2430Ser)
c.6646A>T (p.Thr2216Ser)
c.4156A>T (p.Thr1386Ser)
10g.71803049C>ACA377160907CDH23c.7634C>A (p.Thr2545Asn)
c.1567C>A (n.1567C>A)
c.1231C>A (n.1231C>A)
c.7649C>A (p.Thr2550Asn)
c.914C>A (p.Thr305Asn)
n.1170C>A
c.7829C>A (p.Thr2610Asn)
c.7763C>A (p.Thr2588Asn)
c.7826C>A (p.Thr2609Asn)
c.7823C>A (p.Thr2608Asn)
c.7769C>A (p.Thr2590Asn)
c.7739C>A (p.Thr2580Asn)
c.7694C>A (p.Thr2565Asn)
c.7289C>A (p.Thr2430Asn)
c.6647C>A (p.Thr2216Asn)
c.4157C>A (p.Thr1386Asn)
10g.71803049C=CA1918880449CDH23c.7634C= (p.Thr2545=)
c.1567C= (n.1567C=)
c.1231C= (n.1231C=)
c.7649C= (p.Thr2550=)
c.914C= (p.Thr305=)
n.1170C=
c.7829C= (p.Thr2610=)
c.7763C= (p.Thr2588=)
c.7826C= (p.Thr2609=)
c.7823C= (p.Thr2608=)
c.7769C= (p.Thr2590=)
c.7739C= (p.Thr2580=)
c.7694C= (p.Thr2565=)
c.7289C= (p.Thr2430=)
c.6647C= (p.Thr2216=)
c.4157C= (p.Thr1386=)
10g.71803049C>GCA209472493CDH23c.7634C>G (p.Thr2545Ser)
c.1567C>G (n.1567C>G)
c.1231C>G (n.1231C>G)
c.7649C>G (p.Thr2550Ser)
c.914C>G (p.Thr305Ser)
n.1170C>G
c.7829C>G (p.Thr2610Ser)
c.7763C>G (p.Thr2588Ser)
c.7826C>G (p.Thr2609Ser)
c.7823C>G (p.Thr2608Ser)
c.7769C>G (p.Thr2590Ser)
c.7739C>G (p.Thr2580Ser)
c.7694C>G (p.Thr2565Ser)
c.7289C>G (p.Thr2430Ser)
c.6647C>G (p.Thr2216Ser)
c.4157C>G (p.Thr1386Ser)
 dbSNP
10g.71803049C>TCA5546392CDH23c.7634C>T (p.Thr2545Ile)
c.1567C>T (n.1567C>T)
c.1231C>T (n.1231C>T)
c.7649C>T (p.Thr2550Ile)
c.914C>T (p.Thr305Ile)
n.1170C>T
c.7829C>T (p.Thr2610Ile)
c.7763C>T (p.Thr2588Ile)
c.7826C>T (p.Thr2609Ile)
c.7823C>T (p.Thr2608Ile)
c.7769C>T (p.Thr2590Ile)
c.7739C>T (p.Thr2580Ile)
c.7694C>T (p.Thr2565Ile)
c.7289C>T (p.Thr2430Ile)
c.6647C>T (p.Thr2216Ile)
c.4157C>T (p.Thr1386Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71803050C>ACA470062524CDH23c.7635C>A (p.Thr2545=)
c.1568C>A (n.1568C>A)
c.1232C>A (n.1232C>A)
c.7650C>A (p.Thr2550=)
c.915C>A (p.Thr305=)
n.1171C>A
c.7830C>A (p.Thr2610=)
c.7764C>A (p.Thr2588=)
c.7827C>A (p.Thr2609=)
c.7824C>A (p.Thr2608=)
c.7770C>A (p.Thr2590=)
c.7740C>A (p.Thr2580=)
c.7695C>A (p.Thr2565=)
c.7290C>A (p.Thr2430=)
c.6648C>A (p.Thr2216=)
c.4158C>A (p.Thr1386=)
10g.71803050C=CA1918880450CDH23c.7635C= (p.Thr2545=)
c.1568C= (n.1568C=)
c.1232C= (n.1232C=)
c.7650C= (p.Thr2550=)
c.915C= (p.Thr305=)
n.1171C=
c.7830C= (p.Thr2610=)
c.7764C= (p.Thr2588=)
c.7827C= (p.Thr2609=)
c.7824C= (p.Thr2608=)
c.7770C= (p.Thr2590=)
c.7740C= (p.Thr2580=)
c.7695C= (p.Thr2565=)
c.7290C= (p.Thr2430=)
c.6648C= (p.Thr2216=)
c.4158C= (p.Thr1386=)
10g.71803050C>GCA470062525CDH23c.7635C>G (p.Thr2545=)
c.1568C>G (n.1568C>G)
c.1232C>G (n.1232C>G)
c.7650C>G (p.Thr2550=)
c.915C>G (p.Thr305=)
n.1171C>G
c.7830C>G (p.Thr2610=)
c.7764C>G (p.Thr2588=)
c.7827C>G (p.Thr2609=)
c.7824C>G (p.Thr2608=)
c.7770C>G (p.Thr2590=)
c.7740C>G (p.Thr2580=)
c.7695C>G (p.Thr2565=)
c.7290C>G (p.Thr2430=)
c.6648C>G (p.Thr2216=)
c.4158C>G (p.Thr1386=)
10g.71803050C>TCA209472501CDH23c.7635C>T (p.Thr2545=)
c.1568C>T (n.1568C>T)
c.1232C>T (n.1232C>T)
c.7650C>T (p.Thr2550=)
c.915C>T (p.Thr305=)
n.1171C>T
c.7830C>T (p.Thr2610=)
c.7764C>T (p.Thr2588=)
c.7827C>T (p.Thr2609=)
c.7824C>T (p.Thr2608=)
c.7770C>T (p.Thr2590=)
c.7740C>T (p.Thr2580=)
c.7695C>T (p.Thr2565=)
c.7290C>T (p.Thr2430=)
c.6648C>T (p.Thr2216=)
c.4158C>T (p.Thr1386=)
 ClinVar dbSNP
10g.71803051T>ACA377160909CDH23c.7636T>A (p.Tyr2546Asn)
c.1569T>A (n.1569T>A)
c.1233T>A (n.1233T>A)
c.7651T>A (p.Tyr2551Asn)
c.916T>A (p.Tyr306Asn)
n.1172T>A
c.7831T>A (p.Tyr2611Asn)
c.7765T>A (p.Tyr2589Asn)
c.7828T>A (p.Tyr2610Asn)
c.7825T>A (p.Tyr2609Asn)
c.7771T>A (p.Tyr2591Asn)
c.7741T>A (p.Tyr2581Asn)
c.7696T>A (p.Tyr2566Asn)
c.7291T>A (p.Tyr2431Asn)
c.6649T>A (p.Tyr2217Asn)
c.4159T>A (p.Tyr1387Asn)
10g.71803051T>CCA377160910CDH23c.7636T>C (p.Tyr2546His)
c.1569T>C (n.1569T>C)
c.1233T>C (n.1233T>C)
c.7651T>C (p.Tyr2551His)
c.916T>C (p.Tyr306His)
n.1172T>C
c.7831T>C (p.Tyr2611His)
c.7765T>C (p.Tyr2589His)
c.7828T>C (p.Tyr2610His)
c.7825T>C (p.Tyr2609His)
c.7771T>C (p.Tyr2591His)
c.7741T>C (p.Tyr2581His)
c.7696T>C (p.Tyr2566His)
c.7291T>C (p.Tyr2431His)
c.6649T>C (p.Tyr2217His)
c.4159T>C (p.Tyr1387His)
 gnomAD v4
10g.71803051T>GCA377160911CDH23c.7636T>G (p.Tyr2546Asp)
c.1569T>G (n.1569T>G)
c.1233T>G (n.1233T>G)
c.7651T>G (p.Tyr2551Asp)
c.916T>G (p.Tyr306Asp)
n.1172T>G
c.7831T>G (p.Tyr2611Asp)
c.7765T>G (p.Tyr2589Asp)
c.7828T>G (p.Tyr2610Asp)
c.7825T>G (p.Tyr2609Asp)
c.7771T>G (p.Tyr2591Asp)
c.7741T>G (p.Tyr2581Asp)
c.7696T>G (p.Tyr2566Asp)
c.7291T>G (p.Tyr2431Asp)
c.6649T>G (p.Tyr2217Asp)
c.4159T>G (p.Tyr1387Asp)
10g.71803052A>CCA377160914CDH23c.7637A>C (p.Tyr2546Ser)
c.1570A>C (n.1570A>C)
c.1234A>C (n.1234A>C)
c.7652A>C (p.Tyr2551Ser)
c.917A>C (p.Tyr306Ser)
n.1173A>C
c.7832A>C (p.Tyr2611Ser)
c.7766A>C (p.Tyr2589Ser)
c.7829A>C (p.Tyr2610Ser)
c.7826A>C (p.Tyr2609Ser)
c.7772A>C (p.Tyr2591Ser)
c.7742A>C (p.Tyr2581Ser)
c.7697A>C (p.Tyr2566Ser)
c.7292A>C (p.Tyr2431Ser)
c.6650A>C (p.Tyr2217Ser)
c.4160A>C (p.Tyr1387Ser)
10g.71803052A>GCA377160912CDH23c.7637A>G (p.Tyr2546Cys)
c.1570A>G (n.1570A>G)
c.1234A>G (n.1234A>G)
c.7652A>G (p.Tyr2551Cys)
c.917A>G (p.Tyr306Cys)
n.1173A>G
c.7832A>G (p.Tyr2611Cys)
c.7766A>G (p.Tyr2589Cys)
c.7829A>G (p.Tyr2610Cys)
c.7826A>G (p.Tyr2609Cys)
c.7772A>G (p.Tyr2591Cys)
c.7742A>G (p.Tyr2581Cys)
c.7697A>G (p.Tyr2566Cys)
c.7292A>G (p.Tyr2431Cys)
c.6650A>G (p.Tyr2217Cys)
c.4160A>G (p.Tyr1387Cys)
 gnomAD v4
10g.71803052A>TCA377160913CDH23c.7637A>T (p.Tyr2546Phe)
c.1570A>T (n.1570A>T)
c.1234A>T (n.1234A>T)
c.7652A>T (p.Tyr2551Phe)
c.917A>T (p.Tyr306Phe)
n.1173A>T
c.7832A>T (p.Tyr2611Phe)
c.7766A>T (p.Tyr2589Phe)
c.7829A>T (p.Tyr2610Phe)
c.7826A>T (p.Tyr2609Phe)
c.7772A>T (p.Tyr2591Phe)
c.7742A>T (p.Tyr2581Phe)
c.7697A>T (p.Tyr2566Phe)
c.7292A>T (p.Tyr2431Phe)
c.6650A>T (p.Tyr2217Phe)
c.4160A>T (p.Tyr1387Phe)
10g.71803053C>ACA377160916CDH23c.7638C>A (p.Tyr2546Ter)
c.1571C>A (n.1571C>A)
c.1235C>A (n.1235C>A)
c.7653C>A (p.Tyr2551Ter)
c.918C>A (p.Tyr306Ter)
n.1174C>A
c.7833C>A (p.Tyr2611Ter)
c.7767C>A (p.Tyr2589Ter)
c.7830C>A (p.Tyr2610Ter)
c.7827C>A (p.Tyr2609Ter)
c.7773C>A (p.Tyr2591Ter)
c.7743C>A (p.Tyr2581Ter)
c.7698C>A (p.Tyr2566Ter)
c.7293C>A (p.Tyr2431Ter)
c.6651C>A (p.Tyr2217Ter)
c.4161C>A (p.Tyr1387Ter)
10g.71803053C=CA1918880451CDH23c.7638C= (p.Tyr2546=)
c.1571C= (n.1571C=)
c.1235C= (n.1235C=)
c.7653C= (p.Tyr2551=)
c.918C= (p.Tyr306=)
n.1174C=
c.7833C= (p.Tyr2611=)
c.7767C= (p.Tyr2589=)
c.7830C= (p.Tyr2610=)
c.7827C= (p.Tyr2609=)
c.7773C= (p.Tyr2591=)
c.7743C= (p.Tyr2581=)
c.7698C= (p.Tyr2566=)
c.7293C= (p.Tyr2431=)
c.6651C= (p.Tyr2217=)
c.4161C= (p.Tyr1387=)
10g.71803053C>GCA377160917CDH23c.7638C>G (p.Tyr2546Ter)
c.1571C>G (n.1571C>G)
c.1235C>G (n.1235C>G)
c.7653C>G (p.Tyr2551Ter)
c.918C>G (p.Tyr306Ter)
n.1174C>G
c.7833C>G (p.Tyr2611Ter)
c.7767C>G (p.Tyr2589Ter)
c.7830C>G (p.Tyr2610Ter)
c.7827C>G (p.Tyr2609Ter)
c.7773C>G (p.Tyr2591Ter)
c.7743C>G (p.Tyr2581Ter)
c.7698C>G (p.Tyr2566Ter)
c.7293C>G (p.Tyr2431Ter)
c.6651C>G (p.Tyr2217Ter)
c.4161C>G (p.Tyr1387Ter)
10g.71803053C>TCA5546393CDH23c.7638C>T (p.Tyr2546=)
c.1571C>T (n.1571C>T)
c.1235C>T (n.1235C>T)
c.7653C>T (p.Tyr2551=)
c.918C>T (p.Tyr306=)
n.1174C>T
c.7833C>T (p.Tyr2611=)
c.7767C>T (p.Tyr2589=)
c.7830C>T (p.Tyr2610=)
c.7827C>T (p.Tyr2609=)
c.7773C>T (p.Tyr2591=)
c.7743C>T (p.Tyr2581=)
c.7698C>T (p.Tyr2566=)
c.7293C>T (p.Tyr2431=)
c.6651C>T (p.Tyr2217=)
c.4161C>T (p.Tyr1387=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71803054T>ACA377160923CDH23c.7639T>A (p.Ser2547Thr)
c.1572T>A (n.1572T>A)
c.1236T>A (n.1236T>A)
c.7654T>A (p.Ser2552Thr)
c.919T>A (p.Ser307Thr)
n.1175T>A
c.7834T>A (p.Ser2612Thr)
c.7768T>A (p.Ser2590Thr)
c.7831T>A (p.Ser2611Thr)
c.7828T>A (p.Ser2610Thr)
c.7774T>A (p.Ser2592Thr)
c.7744T>A (p.Ser2582Thr)
c.7699T>A (p.Ser2567Thr)
c.7294T>A (p.Ser2432Thr)
c.6652T>A (p.Ser2218Thr)
c.4162T>A (p.Ser1388Thr)
10g.71803054T>CCA377160925CDH23c.7639T>C (p.Ser2547Pro)
c.1572T>C (n.1572T>C)
c.1236T>C (n.1236T>C)
c.7654T>C (p.Ser2552Pro)
c.919T>C (p.Ser307Pro)
n.1175T>C
c.7834T>C (p.Ser2612Pro)
c.7768T>C (p.Ser2590Pro)
c.7831T>C (p.Ser2611Pro)
c.7828T>C (p.Ser2610Pro)
c.7774T>C (p.Ser2592Pro)
c.7744T>C (p.Ser2582Pro)
c.7699T>C (p.Ser2567Pro)
c.7294T>C (p.Ser2432Pro)
c.6652T>C (p.Ser2218Pro)
c.4162T>C (p.Ser1388Pro)
10g.71803054T>GCA377160926CDH23c.7639T>G (p.Ser2547Ala)
c.1572T>G (n.1572T>G)
c.1236T>G (n.1236T>G)
c.7654T>G (p.Ser2552Ala)
c.919T>G (p.Ser307Ala)
n.1175T>G
c.7834T>G (p.Ser2612Ala)
c.7768T>G (p.Ser2590Ala)
c.7831T>G (p.Ser2611Ala)
c.7828T>G (p.Ser2610Ala)
c.7774T>G (p.Ser2592Ala)
c.7744T>G (p.Ser2582Ala)
c.7699T>G (p.Ser2567Ala)
c.7294T>G (p.Ser2432Ala)
c.6652T>G (p.Ser2218Ala)
c.4162T>G (p.Ser1388Ala)
10g.71803055C>ACA377160927CDH23c.7640C>A (p.Ser2547Ter)
c.1573C>A (n.1573C>A)
c.1237C>A (n.1237C>A)
c.7655C>A (p.Ser2552Ter)
c.920C>A (p.Ser307Ter)
n.1176C>A
c.7835C>A (p.Ser2612Ter)
c.7769C>A (p.Ser2590Ter)
c.7832C>A (p.Ser2611Ter)
c.7829C>A (p.Ser2610Ter)
c.7775C>A (p.Ser2592Ter)
c.7745C>A (p.Ser2582Ter)
c.7700C>A (p.Ser2567Ter)
c.7295C>A (p.Ser2432Ter)
c.6653C>A (p.Ser2218Ter)
c.4163C>A (p.Ser1388Ter)
10g.71803055C>GCA377160929CDH23c.7640C>G (p.Ser2547Ter)
c.1573C>G (n.1573C>G)
c.1237C>G (n.1237C>G)
c.7655C>G (p.Ser2552Ter)
c.920C>G (p.Ser307Ter)
n.1176C>G
c.7835C>G (p.Ser2612Ter)
c.7769C>G (p.Ser2590Ter)
c.7832C>G (p.Ser2611Ter)
c.7829C>G (p.Ser2610Ter)
c.7775C>G (p.Ser2592Ter)
c.7745C>G (p.Ser2582Ter)
c.7700C>G (p.Ser2567Ter)
c.7295C>G (p.Ser2432Ter)
c.6653C>G (p.Ser2218Ter)
c.4163C>G (p.Ser1388Ter)
10g.71803055C>TCA377160928CDH23c.7640C>T (p.Ser2547Leu)
c.1573C>T (n.1573C>T)
c.1237C>T (n.1237C>T)
c.7655C>T (p.Ser2552Leu)
c.920C>T (p.Ser307Leu)
n.1176C>T
c.7835C>T (p.Ser2612Leu)
c.7769C>T (p.Ser2590Leu)
c.7832C>T (p.Ser2611Leu)
c.7829C>T (p.Ser2610Leu)
c.7775C>T (p.Ser2592Leu)
c.7745C>T (p.Ser2582Leu)
c.7700C>T (p.Ser2567Leu)
c.7295C>T (p.Ser2432Leu)
c.6653C>T (p.Ser2218Leu)
c.4163C>T (p.Ser1388Leu)
 gnomAD v4
10g.71803056A>CCA470062526CDH23c.7641A>C (p.Ser2547=)
c.1574A>C (n.1574A>C)
c.1238A>C (n.1238A>C)
c.7656A>C (p.Ser2552=)
c.921A>C (p.Ser307=)
n.1177A>C
c.7836A>C (p.Ser2612=)
c.7770A>C (p.Ser2590=)
c.7833A>C (p.Ser2611=)
c.7830A>C (p.Ser2610=)
c.7776A>C (p.Ser2592=)
c.7746A>C (p.Ser2582=)
c.7701A>C (p.Ser2567=)
c.7296A>C (p.Ser2432=)
c.6654A>C (p.Ser2218=)
c.4164A>C (p.Ser1388=)
10g.71803056A>GCA470062527CDH23c.7641A>G (p.Ser2547=)
c.1574A>G (n.1574A>G)
c.1238A>G (n.1238A>G)
c.7656A>G (p.Ser2552=)
c.921A>G (p.Ser307=)
n.1177A>G
c.7836A>G (p.Ser2612=)
c.7770A>G (p.Ser2590=)
c.7833A>G (p.Ser2611=)
c.7830A>G (p.Ser2610=)
c.7776A>G (p.Ser2592=)
c.7746A>G (p.Ser2582=)
c.7701A>G (p.Ser2567=)
c.7296A>G (p.Ser2432=)
c.6654A>G (p.Ser2218=)
c.4164A>G (p.Ser1388=)
10g.71803056A>TCA470062528CDH23c.7641A>T (p.Ser2547=)
c.1574A>T (n.1574A>T)
c.1238A>T (n.1238A>T)
c.7656A>T (p.Ser2552=)
c.921A>T (p.Ser307=)
n.1177A>T
c.7836A>T (p.Ser2612=)
c.7770A>T (p.Ser2590=)
c.7833A>T (p.Ser2611=)
c.7830A>T (p.Ser2610=)
c.7776A>T (p.Ser2592=)
c.7746A>T (p.Ser2582=)
c.7701A>T (p.Ser2567=)
c.7296A>T (p.Ser2432=)
c.6654A>T (p.Ser2218=)
c.4164A>T (p.Ser1388=)
10g.71803056_71803059delCA2609580412CDH23c.7641_7644del (p.Leu2548ArgfsTer17)
c.1574_1577del (n.1574_1577del)
c.1238_1241del (n.1238_1241del)
c.7656_7659del (p.Leu2553ArgfsTer17)
c.921_924del (p.Leu308ArgfsTer17)
n.1177_1180del
c.7836_7839del (p.Leu2613ArgfsTer17)
c.7770_7773del (p.Leu2591ArgfsTer17)
c.7833_7836del (p.Leu2612ArgfsTer17)
c.7830_7833del (p.Leu2611ArgfsTer17)
c.7776_7779del (p.Leu2593ArgfsTer17)
c.7746_7749del (p.Leu2583ArgfsTer17)
c.7701_7704del (p.Leu2568ArgfsTer17)
c.7296_7299del (p.Leu2433ArgfsTer17)
c.6654_6657del (p.Leu2219ArgfsTer17)
c.4164_4167del (p.Leu1389ArgfsTer17)
 gnomAD v4
10g.71803057C>ACA5546394CDH23c.7642C>A (p.Leu2548Ile)
c.1575C>A (n.1575C>A)
c.1239C>A (n.1239C>A)
c.7657C>A (p.Leu2553Ile)
c.922C>A (p.Leu308Ile)
n.1178C>A
c.7837C>A (p.Leu2613Ile)
c.7771C>A (p.Leu2591Ile)
c.7834C>A (p.Leu2612Ile)
c.7831C>A (p.Leu2611Ile)
c.7777C>A (p.Leu2593Ile)
c.7747C>A (p.Leu2583Ile)
c.7702C>A (p.Leu2568Ile)
c.7297C>A (p.Leu2433Ile)
c.6655C>A (p.Leu2219Ile)
c.4165C>A (p.Leu1389Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71803057C=CA1918880452CDH23c.7642C= (p.Leu2548=)
c.1575C= (n.1575C=)
c.1239C= (n.1239C=)
c.7657C= (p.Leu2553=)
c.922C= (p.Leu308=)
n.1178C=
c.7837C= (p.Leu2613=)
c.7771C= (p.Leu2591=)
c.7834C= (p.Leu2612=)
c.7831C= (p.Leu2611=)
c.7777C= (p.Leu2593=)
c.7747C= (p.Leu2583=)
c.7702C= (p.Leu2568=)
c.7297C= (p.Leu2433=)
c.6655C= (p.Leu2219=)
c.4165C= (p.Leu1389=)
10g.71803057C>GCA377160930CDH23c.7642C>G (p.Leu2548Val)
c.1575C>G (n.1575C>G)
c.1239C>G (n.1239C>G)
c.7657C>G (p.Leu2553Val)
c.922C>G (p.Leu308Val)
n.1178C>G
c.7837C>G (p.Leu2613Val)
c.7771C>G (p.Leu2591Val)
c.7834C>G (p.Leu2612Val)
c.7831C>G (p.Leu2611Val)
c.7777C>G (p.Leu2593Val)
c.7747C>G (p.Leu2583Val)
c.7702C>G (p.Leu2568Val)
c.7297C>G (p.Leu2433Val)
c.6655C>G (p.Leu2219Val)
c.4165C>G (p.Leu1389Val)
10g.71803057C>TCA377160931CDH23c.7642C>T (p.Leu2548Phe)
c.1575C>T (n.1575C>T)
c.1239C>T (n.1239C>T)
c.7657C>T (p.Leu2553Phe)
c.922C>T (p.Leu308Phe)
n.1178C>T
c.7837C>T (p.Leu2613Phe)
c.7771C>T (p.Leu2591Phe)
c.7834C>T (p.Leu2612Phe)
c.7831C>T (p.Leu2611Phe)
c.7777C>T (p.Leu2593Phe)
c.7747C>T (p.Leu2583Phe)
c.7702C>T (p.Leu2568Phe)
c.7297C>T (p.Leu2433Phe)
c.6655C>T (p.Leu2219Phe)
c.4165C>T (p.Leu1389Phe)
 gnomAD v4
10g.71803058T>ACA377160935CDH23c.7643T>A (p.Leu2548His)
c.1576T>A (n.1576T>A)
c.1240T>A (n.1240T>A)
c.7658T>A (p.Leu2553His)
c.923T>A (p.Leu308His)
n.1179T>A
c.7838T>A (p.Leu2613His)
c.7772T>A (p.Leu2591His)
c.7835T>A (p.Leu2612His)
c.7832T>A (p.Leu2611His)
c.7778T>A (p.Leu2593His)
c.7748T>A (p.Leu2583His)
c.7703T>A (p.Leu2568His)
c.7298T>A (p.Leu2433His)
c.6656T>A (p.Leu2219His)
c.4166T>A (p.Leu1389His)
10g.71803058T>CCA377160937CDH23c.7643T>C (p.Leu2548Pro)
c.1576T>C (n.1576T>C)
c.1240T>C (n.1240T>C)
c.7658T>C (p.Leu2553Pro)
c.923T>C (p.Leu308Pro)
n.1179T>C
c.7838T>C (p.Leu2613Pro)
c.7772T>C (p.Leu2591Pro)
c.7835T>C (p.Leu2612Pro)
c.7832T>C (p.Leu2611Pro)
c.7778T>C (p.Leu2593Pro)
c.7748T>C (p.Leu2583Pro)
c.7703T>C (p.Leu2568Pro)
c.7298T>C (p.Leu2433Pro)
c.6656T>C (p.Leu2219Pro)
c.4166T>C (p.Leu1389Pro)
 dbSNP
10g.71803058T>GCA377160939CDH23c.7643T>G (p.Leu2548Arg)
c.1576T>G (n.1576T>G)
c.1240T>G (n.1240T>G)
c.7658T>G (p.Leu2553Arg)
c.923T>G (p.Leu308Arg)
n.1179T>G
c.7838T>G (p.Leu2613Arg)
c.7772T>G (p.Leu2591Arg)
c.7835T>G (p.Leu2612Arg)
c.7832T>G (p.Leu2611Arg)
c.7778T>G (p.Leu2593Arg)
c.7748T>G (p.Leu2583Arg)
c.7703T>G (p.Leu2568Arg)
c.7298T>G (p.Leu2433Arg)
c.6656T>G (p.Leu2219Arg)
c.4166T>G (p.Leu1389Arg)
10g.71803058T=CA1918880453CDH23c.7643T= (p.Leu2548=)
c.1576T= (n.1576T=)
c.1240T= (n.1240T=)
c.7658T= (p.Leu2553=)
c.923T= (p.Leu308=)
n.1179T=
c.7838T= (p.Leu2613=)
c.7772T= (p.Leu2591=)
c.7835T= (p.Leu2612=)
c.7832T= (p.Leu2611=)
c.7778T= (p.Leu2593=)
c.7748T= (p.Leu2583=)
c.7703T= (p.Leu2568=)
c.7298T= (p.Leu2433=)
c.6656T= (p.Leu2219=)
c.4166T= (p.Leu1389=)
10g.71803059T>ACA470062531CDH23c.7644T>A (p.Leu2548=)
c.1577T>A (n.1577T>A)
c.1241T>A (n.1241T>A)
c.7659T>A (p.Leu2553=)
c.924T>A (p.Leu308=)
n.1180T>A
c.7839T>A (p.Leu2613=)
c.7773T>A (p.Leu2591=)
c.7836T>A (p.Leu2612=)
c.7833T>A (p.Leu2611=)
c.7779T>A (p.Leu2593=)
c.7749T>A (p.Leu2583=)
c.7704T>A (p.Leu2568=)
c.7299T>A (p.Leu2433=)
c.6657T>A (p.Leu2219=)
c.4167T>A (p.Leu1389=)
10g.71803059T>CCA470062529CDH23c.7644T>C (p.Leu2548=)
c.1577T>C (n.1577T>C)
c.1241T>C (n.1241T>C)
c.7659T>C (p.Leu2553=)
c.924T>C (p.Leu308=)
n.1180T>C
c.7839T>C (p.Leu2613=)
c.7773T>C (p.Leu2591=)
c.7836T>C (p.Leu2612=)
c.7833T>C (p.Leu2611=)
c.7779T>C (p.Leu2593=)
c.7749T>C (p.Leu2583=)
c.7704T>C (p.Leu2568=)
c.7299T>C (p.Leu2433=)
c.6657T>C (p.Leu2219=)
c.4167T>C (p.Leu1389=)
10g.71803059T>GCA470062530CDH23c.7644T>G (p.Leu2548=)
c.1577T>G (n.1577T>G)
c.1241T>G (n.1241T>G)
c.7659T>G (p.Leu2553=)
c.924T>G (p.Leu308=)
n.1180T>G
c.7839T>G (p.Leu2613=)
c.7773T>G (p.Leu2591=)
c.7836T>G (p.Leu2612=)
c.7833T>G (p.Leu2611=)
c.7779T>G (p.Leu2593=)
c.7749T>G (p.Leu2583=)
c.7704T>G (p.Leu2568=)
c.7299T>G (p.Leu2433=)
c.6657T>G (p.Leu2219=)
c.4167T>G (p.Leu1389=)
10g.71803060G>ACA377160941CDH23c.7645G>A (p.Glu2549Lys)
c.1578G>A (n.1578G>A)
c.1242G>A (n.1242G>A)
c.7660G>A (p.Glu2554Lys)
c.925G>A (p.Glu309Lys)
n.1181G>A
c.7840G>A (p.Glu2614Lys)
c.7774G>A (p.Glu2592Lys)
c.7837G>A (p.Glu2613Lys)
c.7834G>A (p.Glu2612Lys)
c.7780G>A (p.Glu2594Lys)
c.7750G>A (p.Glu2584Lys)
c.7705G>A (p.Glu2569Lys)
c.7300G>A (p.Glu2434Lys)
c.6658G>A (p.Glu2220Lys)
c.4168G>A (p.Glu1390Lys)
10g.71803060G>CCA377160942CDH23c.7645G>C (p.Glu2549Gln)
c.1578G>C (n.1578G>C)
c.1242G>C (n.1242G>C)
c.7660G>C (p.Glu2554Gln)
c.925G>C (p.Glu309Gln)
n.1181G>C
c.7840G>C (p.Glu2614Gln)
c.7774G>C (p.Glu2592Gln)
c.7837G>C (p.Glu2613Gln)
c.7834G>C (p.Glu2612Gln)
c.7780G>C (p.Glu2594Gln)
c.7750G>C (p.Glu2584Gln)
c.7705G>C (p.Glu2569Gln)
c.7300G>C (p.Glu2434Gln)
c.6658G>C (p.Glu2220Gln)
c.4168G>C (p.Glu1390Gln)
10g.71803060G>TCA377160944CDH23c.7645G>T (p.Glu2549Ter)
c.1578G>T (n.1578G>T)
c.1242G>T (n.1242G>T)
c.7660G>T (p.Glu2554Ter)
c.925G>T (p.Glu309Ter)
n.1181G>T
c.7840G>T (p.Glu2614Ter)
c.7774G>T (p.Glu2592Ter)
c.7837G>T (p.Glu2613Ter)
c.7834G>T (p.Glu2612Ter)
c.7780G>T (p.Glu2594Ter)
c.7750G>T (p.Glu2584Ter)
c.7705G>T (p.Glu2569Ter)
c.7300G>T (p.Glu2434Ter)
c.6658G>T (p.Glu2220Ter)
c.4168G>T (p.Glu1390Ter)
10g.71803061A>CCA377160946CDH23c.7646A>C (p.Glu2549Ala)
c.1579A>C (n.1579A>C)
c.1243A>C (n.1243A>C)
c.7661A>C (p.Glu2554Ala)
c.926A>C (p.Glu309Ala)
n.1182A>C
c.7841A>C (p.Glu2614Ala)
c.7775A>C (p.Glu2592Ala)
c.7838A>C (p.Glu2613Ala)
c.7835A>C (p.Glu2612Ala)
c.7781A>C (p.Glu2594Ala)
c.7751A>C (p.Glu2584Ala)
c.7706A>C (p.Glu2569Ala)
c.7301A>C (p.Glu2434Ala)
c.6659A>C (p.Glu2220Ala)
c.4169A>C (p.Glu1390Ala)
10g.71803061A>GCA377160949CDH23c.7646A>G (p.Glu2549Gly)
c.1579A>G (n.1579A>G)
c.1243A>G (n.1243A>G)
c.7661A>G (p.Glu2554Gly)
c.926A>G (p.Glu309Gly)
n.1182A>G
c.7841A>G (p.Glu2614Gly)
c.7775A>G (p.Glu2592Gly)
c.7838A>G (p.Glu2613Gly)
c.7835A>G (p.Glu2612Gly)
c.7781A>G (p.Glu2594Gly)
c.7751A>G (p.Glu2584Gly)
c.7706A>G (p.Glu2569Gly)
c.7301A>G (p.Glu2434Gly)
c.6659A>G (p.Glu2220Gly)
c.4169A>G (p.Glu1390Gly)
10g.71803061A>TCA377160954CDH23c.7646A>T (p.Glu2549Val)
c.1579A>T (n.1579A>T)
c.1243A>T (n.1243A>T)
c.7661A>T (p.Glu2554Val)
c.926A>T (p.Glu309Val)
n.1182A>T
c.7841A>T (p.Glu2614Val)
c.7775A>T (p.Glu2592Val)
c.7838A>T (p.Glu2613Val)
c.7835A>T (p.Glu2612Val)
c.7781A>T (p.Glu2594Val)
c.7751A>T (p.Glu2584Val)
c.7706A>T (p.Glu2569Val)
c.7301A>T (p.Glu2434Val)
c.6659A>T (p.Glu2220Val)
c.4169A>T (p.Glu1390Val)
 COSMIC
10g.71803062G>ACA5546395CDH23c.7647G>A (p.Glu2549=)
c.1580G>A (n.1580G>A)
c.1244G>A (n.1244G>A)
c.7662G>A (p.Glu2554=)
c.927G>A (p.Glu309=)
n.1183G>A
c.7842G>A (p.Glu2614=)
c.7776G>A (p.Glu2592=)
c.7839G>A (p.Glu2613=)
c.7836G>A (p.Glu2612=)
c.7782G>A (p.Glu2594=)
c.7752G>A (p.Glu2584=)
c.7707G>A (p.Glu2569=)
c.7302G>A (p.Glu2434=)
c.6660G>A (p.Glu2220=)
c.4170G>A (p.Glu1390=)
 dbSNP ExAC gnomAD v4
10g.71803062G>CCA377160956CDH23c.7647G>C (p.Glu2549Asp)
c.1580G>C (n.1580G>C)
c.1244G>C (n.1244G>C)
c.7662G>C (p.Glu2554Asp)
c.927G>C (p.Glu309Asp)
n.1183G>C
c.7842G>C (p.Glu2614Asp)
c.7776G>C (p.Glu2592Asp)
c.7839G>C (p.Glu2613Asp)
c.7836G>C (p.Glu2612Asp)
c.7782G>C (p.Glu2594Asp)
c.7752G>C (p.Glu2584Asp)
c.7707G>C (p.Glu2569Asp)
c.7302G>C (p.Glu2434Asp)
c.6660G>C (p.Glu2220Asp)
c.4170G>C (p.Glu1390Asp)
 ClinVar dbSNP
10g.71803062G=CA1918880454CDH23c.7647G= (p.Glu2549=)
c.1580G= (n.1580G=)
c.1244G= (n.1244G=)
c.7662G= (p.Glu2554=)
c.927G= (p.Glu309=)
n.1183G=
c.7842G= (p.Glu2614=)
c.7776G= (p.Glu2592=)
c.7839G= (p.Glu2613=)
c.7836G= (p.Glu2612=)
c.7782G= (p.Glu2594=)
c.7752G= (p.Glu2584=)
c.7707G= (p.Glu2569=)
c.7302G= (p.Glu2434=)
c.6660G= (p.Glu2220=)
c.4170G= (p.Glu1390=)
10g.71803062G>TCA377160958CDH23c.7647G>T (p.Glu2549Asp)
c.1580G>T (n.1580G>T)
c.1244G>T (n.1244G>T)
c.7662G>T (p.Glu2554Asp)
c.927G>T (p.Glu309Asp)
n.1183G>T
c.7842G>T (p.Glu2614Asp)
c.7776G>T (p.Glu2592Asp)
c.7839G>T (p.Glu2613Asp)
c.7836G>T (p.Glu2612Asp)
c.7782G>T (p.Glu2594Asp)
c.7752G>T (p.Glu2584Asp)
c.7707G>T (p.Glu2569Asp)
c.7302G>T (p.Glu2434Asp)
c.6660G>T (p.Glu2220Asp)
c.4170G>T (p.Glu1390Asp)
10g.71803063G>ACA377160962CDH23c.7648G>A (p.Gly2550Ser)
c.1581G>A (n.1581G>A)
c.1245G>A (n.1245G>A)
c.7663G>A (p.Gly2555Ser)
c.928G>A (p.Gly310Ser)
n.1184G>A
c.7843G>A (p.Gly2615Ser)
c.7777G>A (p.Gly2593Ser)
c.7840G>A (p.Gly2614Ser)
c.7837G>A (p.Gly2613Ser)
c.7783G>A (p.Gly2595Ser)
c.7753G>A (p.Gly2585Ser)
c.7708G>A (p.Gly2570Ser)
c.7303G>A (p.Gly2435Ser)
c.6661G>A (p.Gly2221Ser)
c.4171G>A (p.Gly1391Ser)
 COSMIC
10g.71803063G>CCA377160971CDH23c.7648G>C (p.Gly2550Arg)
c.1581G>C (n.1581G>C)
c.1245G>C (n.1245G>C)
c.7663G>C (p.Gly2555Arg)
c.928G>C (p.Gly310Arg)
n.1184G>C
c.7843G>C (p.Gly2615Arg)
c.7777G>C (p.Gly2593Arg)
c.7840G>C (p.Gly2614Arg)
c.7837G>C (p.Gly2613Arg)
c.7783G>C (p.Gly2595Arg)
c.7753G>C (p.Gly2585Arg)
c.7708G>C (p.Gly2570Arg)
c.7303G>C (p.Gly2435Arg)
c.6661G>C (p.Gly2221Arg)
c.4171G>C (p.Gly1391Arg)
10g.71803063G>TCA377160973CDH23c.7648G>T (p.Gly2550Cys)
c.1581G>T (n.1581G>T)
c.1245G>T (n.1245G>T)
c.7663G>T (p.Gly2555Cys)
c.928G>T (p.Gly310Cys)
n.1184G>T
c.7843G>T (p.Gly2615Cys)
c.7777G>T (p.Gly2593Cys)
c.7840G>T (p.Gly2614Cys)
c.7837G>T (p.Gly2613Cys)
c.7783G>T (p.Gly2595Cys)
c.7753G>T (p.Gly2585Cys)
c.7708G>T (p.Gly2570Cys)
c.7303G>T (p.Gly2435Cys)
c.6661G>T (p.Gly2221Cys)
c.4171G>T (p.Gly1391Cys)
10g.71803064G>ACA377160974CDH23c.7649G>A (p.Gly2550Asp)
c.1582G>A (n.1582G>A)
c.1246G>A (n.1246G>A)
c.7664G>A (p.Gly2555Asp)
c.929G>A (p.Gly310Asp)
n.1185G>A
c.7844G>A (p.Gly2615Asp)
c.7778G>A (p.Gly2593Asp)
c.7841G>A (p.Gly2614Asp)
c.7838G>A (p.Gly2613Asp)
c.7784G>A (p.Gly2595Asp)
c.7754G>A (p.Gly2585Asp)
c.7709G>A (p.Gly2570Asp)
c.7304G>A (p.Gly2435Asp)
c.6662G>A (p.Gly2221Asp)
c.4172G>A (p.Gly1391Asp)
 gnomAD v4
10g.71803064G>CCA377160975CDH23c.7649G>C (p.Gly2550Ala)
c.1582G>C (n.1582G>C)
c.1246G>C (n.1246G>C)
c.7664G>C (p.Gly2555Ala)
c.929G>C (p.Gly310Ala)
n.1185G>C
c.7844G>C (p.Gly2615Ala)
c.7778G>C (p.Gly2593Ala)
c.7841G>C (p.Gly2614Ala)
c.7838G>C (p.Gly2613Ala)
c.7784G>C (p.Gly2595Ala)
c.7754G>C (p.Gly2585Ala)
c.7709G>C (p.Gly2570Ala)
c.7304G>C (p.Gly2435Ala)
c.6662G>C (p.Gly2221Ala)
c.4172G>C (p.Gly1391Ala)
10g.71803064G>TCA377160976CDH23c.7649G>T (p.Gly2550Val)
c.1582G>T (n.1582G>T)
c.1246G>T (n.1246G>T)
c.7664G>T (p.Gly2555Val)
c.929G>T (p.Gly310Val)
n.1185G>T
c.7844G>T (p.Gly2615Val)
c.7778G>T (p.Gly2593Val)
c.7841G>T (p.Gly2614Val)
c.7838G>T (p.Gly2613Val)
c.7784G>T (p.Gly2595Val)
c.7754G>T (p.Gly2585Val)
c.7709G>T (p.Gly2570Val)
c.7304G>T (p.Gly2435Val)
c.6662G>T (p.Gly2221Val)
c.4172G>T (p.Gly1391Val)
 COSMIC
10g.71803064_71803065delinsGCCA1918880455CDH23c.7649_7650delinsGC (p.Gly2550=)
c.1582_1583delinsGC (n.1582_1583delinsGC)
c.1246_1247delinsGC (n.1246_1247delinsGC)
c.7664_7665delinsGC (p.Gly2555=)
c.929_930delinsGC (p.Gly310=)
n.1185_1186delinsGC
c.7844_7845delinsGC (p.Gly2615=)
c.7778_7779delinsGC (p.Gly2593=)
c.7841_7842delinsGC (p.Gly2614=)
c.7838_7839delinsGC (p.Gly2613=)
c.7784_7785delinsGC (p.Gly2595=)
c.7754_7755delinsGC (p.Gly2585=)
c.7709_7710delinsGC (p.Gly2570=)
c.7304_7305delinsGC (p.Gly2435=)
c.6662_6663delinsGC (p.Gly2221=)
c.4172_4173delinsGC (p.Gly1391=)
10g.71803065C>ACA470062532CDH23c.7650C>A (p.Gly2550=)
c.1583C>A (n.1583C>A)
c.1247C>A (n.1247C>A)
c.7665C>A (p.Gly2555=)
c.930C>A (p.Gly310=)
n.1186C>A
c.7845C>A (p.Gly2615=)
c.7779C>A (p.Gly2593=)
c.7842C>A (p.Gly2614=)
c.7839C>A (p.Gly2613=)
c.7785C>A (p.Gly2595=)
c.7755C>A (p.Gly2585=)
c.7710C>A (p.Gly2570=)
c.7305C>A (p.Gly2435=)
c.6663C>A (p.Gly2221=)
c.4173C>A (p.Gly1391=)
 ClinVar dbSNP
10g.71803065C=CA1918880457CDH23c.7650C= (p.Gly2550=)
c.1583C= (n.1583C=)
c.1247C= (n.1247C=)
c.7665C= (p.Gly2555=)
c.930C= (p.Gly310=)
n.1186C=
c.7845C= (p.Gly2615=)
c.7779C= (p.Gly2593=)
c.7842C= (p.Gly2614=)
c.7839C= (p.Gly2613=)
c.7785C= (p.Gly2595=)
c.7755C= (p.Gly2585=)
c.7710C= (p.Gly2570=)
c.7305C= (p.Gly2435=)
c.6663C= (p.Gly2221=)
c.4173C= (p.Gly1391=)
10g.71803065C>GCA5546396CDH23c.7650C>G (p.Gly2550=)
c.1583C>G (n.1583C>G)
c.1247C>G (n.1247C>G)
c.7665C>G (p.Gly2555=)
c.930C>G (p.Gly310=)
n.1186C>G
c.7845C>G (p.Gly2615=)
c.7779C>G (p.Gly2593=)
c.7842C>G (p.Gly2614=)
c.7839C>G (p.Gly2613=)
c.7785C>G (p.Gly2595=)
c.7755C>G (p.Gly2585=)
c.7710C>G (p.Gly2570=)
c.7305C>G (p.Gly2435=)
c.6663C>G (p.Gly2221=)
c.4173C>G (p.Gly1391=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71803065C>TCA470062533CDH23c.7650C>T (p.Gly2550=)
c.1583C>T (n.1583C>T)
c.1247C>T (n.1247C>T)
c.7665C>T (p.Gly2555=)
c.930C>T (p.Gly310=)
n.1186C>T
c.7845C>T (p.Gly2615=)
c.7779C>T (p.Gly2593=)
c.7842C>T (p.Gly2614=)
c.7839C>T (p.Gly2613=)
c.7785C>T (p.Gly2595=)
c.7755C>T (p.Gly2585=)
c.7710C>T (p.Gly2570=)
c.7305C>T (p.Gly2435=)
c.6663C>T (p.Gly2221=)
c.4173C>T (p.Gly1391=)
 COSMIC
10g.71803067delCA1918880456CDH23c.7652del (p.Pro2551LeufsTer15)
c.1585del (n.1585del)
c.1249del (n.1249del)
c.7667del (p.Pro2556LeufsTer15)
c.932del (p.Pro311LeufsTer15)
n.1188del
c.7847del (p.Pro2616LeufsTer15)
c.7781del (p.Pro2594LeufsTer15)
c.7844del (p.Pro2615LeufsTer15)
c.7841del (p.Pro2614LeufsTer15)
c.7787del (p.Pro2596LeufsTer15)
c.7757del (p.Pro2586LeufsTer15)
c.7712del (p.Pro2571LeufsTer15)
c.7307del (p.Pro2436LeufsTer15)
c.6665del (p.Pro2222LeufsTer15)
c.4175del (p.Pro1392LeufsTer15)
 dbSNP
10g.71803066C>ACA377160977CDH23c.7651C>A (p.Pro2551Thr)
c.1584C>A (n.1584C>A)
c.1248C>A (n.1248C>A)
c.7666C>A (p.Pro2556Thr)
c.931C>A (p.Pro311Thr)
n.1187C>A
c.7846C>A (p.Pro2616Thr)
c.7780C>A (p.Pro2594Thr)
c.7843C>A (p.Pro2615Thr)
c.7840C>A (p.Pro2614Thr)
c.7786C>A (p.Pro2596Thr)
c.7756C>A (p.Pro2586Thr)
c.7711C>A (p.Pro2571Thr)
c.7306C>A (p.Pro2436Thr)
c.6664C>A (p.Pro2222Thr)
c.4174C>A (p.Pro1392Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.71803066C=CA1918880458CDH23c.7651C= (p.Pro2551=)
c.1584C= (n.1584C=)
c.1248C= (n.1248C=)
c.7666C= (p.Pro2556=)
c.931C= (p.Pro311=)
n.1187C=
c.7846C= (p.Pro2616=)
c.7780C= (p.Pro2594=)
c.7843C= (p.Pro2615=)
c.7840C= (p.Pro2614=)
c.7786C= (p.Pro2596=)
c.7756C= (p.Pro2586=)
c.7711C= (p.Pro2571=)
c.7306C= (p.Pro2436=)
c.6664C= (p.Pro2222=)
c.4174C= (p.Pro1392=)
10g.71803066C>GCA185439CDH23c.7651C>G (p.Pro2551Ala)
c.1584C>G (n.1584C>G)
c.1248C>G (n.1248C>G)
c.7666C>G (p.Pro2556Ala)
c.931C>G (p.Pro311Ala)
n.1187C>G
c.7846C>G (p.Pro2616Ala)
c.7780C>G (p.Pro2594Ala)
c.7843C>G (p.Pro2615Ala)
c.7840C>G (p.Pro2614Ala)
c.7786C>G (p.Pro2596Ala)
c.7756C>G (p.Pro2586Ala)
c.7711C>G (p.Pro2571Ala)
c.7306C>G (p.Pro2436Ala)
c.6664C>G (p.Pro2222Ala)
c.4174C>G (p.Pro1392Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71803066C>TCA377160979CDH23c.7651C>T (p.Pro2551Ser)
c.1584C>T (n.1584C>T)
c.1248C>T (n.1248C>T)
c.7666C>T (p.Pro2556Ser)
c.931C>T (p.Pro311Ser)
n.1187C>T
c.7846C>T (p.Pro2616Ser)
c.7780C>T (p.Pro2594Ser)
c.7843C>T (p.Pro2615Ser)
c.7840C>T (p.Pro2614Ser)
c.7786C>T (p.Pro2596Ser)
c.7756C>T (p.Pro2586Ser)
c.7711C>T (p.Pro2571Ser)
c.7306C>T (p.Pro2436Ser)
c.6664C>T (p.Pro2222Ser)
c.4174C>T (p.Pro1392Ser)
10g.71803067C>ACA377160981CDH23c.7652C>A (p.Pro2551His)
c.1585C>A (n.1585C>A)
c.1249C>A (n.1249C>A)
c.7667C>A (p.Pro2556His)
c.932C>A (p.Pro311His)
n.1188C>A
c.7847C>A (p.Pro2616His)
c.7781C>A (p.Pro2594His)
c.7844C>A (p.Pro2615His)
c.7841C>A (p.Pro2614His)
c.7787C>A (p.Pro2596His)
c.7757C>A (p.Pro2586His)
c.7712C>A (p.Pro2571His)
c.7307C>A (p.Pro2436His)
c.6665C>A (p.Pro2222His)
c.4175C>A (p.Pro1392His)
10g.71803067C>GCA377160982CDH23c.7652C>G (p.Pro2551Arg)
c.1585C>G (n.1585C>G)
c.1249C>G (n.1249C>G)
c.7667C>G (p.Pro2556Arg)
c.932C>G (p.Pro311Arg)
n.1188C>G
c.7847C>G (p.Pro2616Arg)
c.7781C>G (p.Pro2594Arg)
c.7844C>G (p.Pro2615Arg)
c.7841C>G (p.Pro2614Arg)
c.7787C>G (p.Pro2596Arg)
c.7757C>G (p.Pro2586Arg)
c.7712C>G (p.Pro2571Arg)
c.7307C>G (p.Pro2436Arg)
c.6665C>G (p.Pro2222Arg)
c.4175C>G (p.Pro1392Arg)
 gnomAD v4
10g.71803067C>TCA377160985CDH23c.7652C>T (p.Pro2551Leu)
c.1585C>T (n.1585C>T)
c.1249C>T (n.1249C>T)
c.7667C>T (p.Pro2556Leu)
c.932C>T (p.Pro311Leu)
n.1188C>T
c.7847C>T (p.Pro2616Leu)
c.7781C>T (p.Pro2594Leu)
c.7844C>T (p.Pro2615Leu)
c.7841C>T (p.Pro2614Leu)
c.7787C>T (p.Pro2596Leu)
c.7757C>T (p.Pro2586Leu)
c.7712C>T (p.Pro2571Leu)
c.7307C>T (p.Pro2436Leu)
c.6665C>T (p.Pro2222Leu)
c.4175C>T (p.Pro1392Leu)
 COSMIC
10g.71803068T>ACA470062534CDH23c.7653T>A (p.Pro2551=)
c.1586T>A (n.1586T>A)
c.1250T>A (n.1250T>A)
c.7668T>A (p.Pro2556=)
c.933T>A (p.Pro311=)
n.1189T>A
c.7848T>A (p.Pro2616=)
c.7782T>A (p.Pro2594=)
c.7845T>A (p.Pro2615=)
c.7842T>A (p.Pro2614=)
c.7788T>A (p.Pro2596=)
c.7758T>A (p.Pro2586=)
c.7713T>A (p.Pro2571=)
c.7308T>A (p.Pro2436=)
c.6666T>A (p.Pro2222=)
c.4176T>A (p.Pro1392=)
10g.71803068T>CCA470062535CDH23c.7653T>C (p.Pro2551=)
c.1586T>C (n.1586T>C)
c.1250T>C (n.1250T>C)
c.7668T>C (p.Pro2556=)
c.933T>C (p.Pro311=)
n.1189T>C
c.7848T>C (p.Pro2616=)
c.7782T>C (p.Pro2594=)
c.7845T>C (p.Pro2615=)
c.7842T>C (p.Pro2614=)
c.7788T>C (p.Pro2596=)
c.7758T>C (p.Pro2586=)
c.7713T>C (p.Pro2571=)
c.7308T>C (p.Pro2436=)
c.6666T>C (p.Pro2222=)
c.4176T>C (p.Pro1392=)
10g.71803068T>GCA470062536CDH23c.7653T>G (p.Pro2551=)
c.1586T>G (n.1586T>G)
c.1250T>G (n.1250T>G)
c.7668T>G (p.Pro2556=)
c.933T>G (p.Pro311=)
n.1189T>G
c.7848T>G (p.Pro2616=)
c.7782T>G (p.Pro2594=)
c.7845T>G (p.Pro2615=)
c.7842T>G (p.Pro2614=)
c.7788T>G (p.Pro2596=)
c.7758T>G (p.Pro2586=)
c.7713T>G (p.Pro2571=)
c.7308T>G (p.Pro2436=)
c.6666T>G (p.Pro2222=)
c.4176T>G (p.Pro1392=)
10g.71803069G>ACA377160992CDH23c.7654G>A (p.Gly2552Ser)
c.1587G>A (n.1587G>A)
c.1251G>A (n.1251G>A)
c.7669G>A (p.Gly2557Ser)
c.934G>A (p.Gly312Ser)
n.1190G>A
c.7849G>A (p.Gly2617Ser)
c.7783G>A (p.Gly2595Ser)
c.7846G>A (p.Gly2616Ser)
c.7843G>A (p.Gly2615Ser)
c.7789G>A (p.Gly2597Ser)
c.7759G>A (p.Gly2587Ser)
c.7714G>A (p.Gly2572Ser)
c.7309G>A (p.Gly2437Ser)
c.6667G>A (p.Gly2223Ser)
c.4177G>A (p.Gly1393Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71803069G>CCA377160989CDH23c.7654G>C (p.Gly2552Arg)
c.1587G>C (n.1587G>C)
c.1251G>C (n.1251G>C)
c.7669G>C (p.Gly2557Arg)
c.934G>C (p.Gly312Arg)
n.1190G>C
c.7849G>C (p.Gly2617Arg)
c.7783G>C (p.Gly2595Arg)
c.7846G>C (p.Gly2616Arg)
c.7843G>C (p.Gly2615Arg)
c.7789G>C (p.Gly2597Arg)
c.7759G>C (p.Gly2587Arg)
c.7714G>C (p.Gly2572Arg)
c.7309G>C (p.Gly2437Arg)
c.6667G>C (p.Gly2223Arg)
c.4177G>C (p.Gly1393Arg)
10g.71803069G=CA1918880459CDH23c.7654G= (p.Gly2552=)
c.1587G= (n.1587G=)
c.1251G= (n.1251G=)
c.7669G= (p.Gly2557=)
c.934G= (p.Gly312=)
n.1190G=
c.7849G= (p.Gly2617=)
c.7783G= (p.Gly2595=)
c.7846G= (p.Gly2616=)
c.7843G= (p.Gly2615=)
c.7789G= (p.Gly2597=)
c.7759G= (p.Gly2587=)
c.7714G= (p.Gly2572=)
c.7309G= (p.Gly2437=)
c.6667G= (p.Gly2223=)
c.4177G= (p.Gly1393=)
10g.71803069G>TCA377160988CDH23c.7654G>T (p.Gly2552Cys)
c.1587G>T (n.1587G>T)
c.1251G>T (n.1251G>T)
c.7669G>T (p.Gly2557Cys)
c.934G>T (p.Gly312Cys)
n.1190G>T
c.7849G>T (p.Gly2617Cys)
c.7783G>T (p.Gly2595Cys)
c.7846G>T (p.Gly2616Cys)
c.7843G>T (p.Gly2615Cys)
c.7789G>T (p.Gly2597Cys)
c.7759G>T (p.Gly2587Cys)
c.7714G>T (p.Gly2572Cys)
c.7309G>T (p.Gly2437Cys)
c.6667G>T (p.Gly2223Cys)
c.4177G>T (p.Gly1393Cys)
10g.71803070delCA645559622CDH23c.7655del (p.Gly2552AlafsTer14)
c.1588del (n.1588del)
c.1252del (n.1252del)
c.7670del (p.Gly2557AlafsTer14)
c.935del (p.Gly312AlafsTer14)
n.1191del
c.7850del (p.Gly2617AlafsTer14)
c.7784del (p.Gly2595AlafsTer14)
c.7847del (p.Gly2616AlafsTer14)
c.7844del (p.Gly2615AlafsTer14)
c.7790del (p.Gly2597AlafsTer14)
c.7760del (p.Gly2587AlafsTer14)
c.7715del (p.Gly2572AlafsTer14)
c.7310del (p.Gly2437AlafsTer14)
c.6668del (p.Gly2223AlafsTer14)
c.4178del (p.Gly1393AlafsTer14)
 COSMIC
10g.71803070G>ACA377160993CDH23c.7655G>A (p.Gly2552Asp)
c.1588G>A (n.1588G>A)
c.1252G>A (n.1252G>A)
c.7670G>A (p.Gly2557Asp)
c.935G>A (p.Gly312Asp)
n.1191G>A
c.7850G>A (p.Gly2617Asp)
c.7784G>A (p.Gly2595Asp)
c.7847G>A (p.Gly2616Asp)
c.7844G>A (p.Gly2615Asp)
c.7790G>A (p.Gly2597Asp)
c.7760G>A (p.Gly2587Asp)
c.7715G>A (p.Gly2572Asp)
c.7310G>A (p.Gly2437Asp)
c.6668G>A (p.Gly2223Asp)
c.4178G>A (p.Gly1393Asp)
10g.71803070G>CCA377160994CDH23c.7655G>C (p.Gly2552Ala)
c.1588G>C (n.1588G>C)
c.1252G>C (n.1252G>C)
c.7670G>C (p.Gly2557Ala)
c.935G>C (p.Gly312Ala)
n.1191G>C
c.7850G>C (p.Gly2617Ala)
c.7784G>C (p.Gly2595Ala)
c.7847G>C (p.Gly2616Ala)
c.7844G>C (p.Gly2615Ala)
c.7790G>C (p.Gly2597Ala)
c.7760G>C (p.Gly2587Ala)
c.7715G>C (p.Gly2572Ala)
c.7310G>C (p.Gly2437Ala)
c.6668G>C (p.Gly2223Ala)
c.4178G>C (p.Gly1393Ala)
 dbSNP gnomAD v2 gnomAD v4
10g.71803070G=CA1918880460CDH23c.7655G= (p.Gly2552=)
c.1588G= (n.1588G=)
c.1252G= (n.1252G=)
c.7670G= (p.Gly2557=)
c.935G= (p.Gly312=)
n.1191G=
c.7850G= (p.Gly2617=)
c.7784G= (p.Gly2595=)
c.7847G= (p.Gly2616=)
c.7844G= (p.Gly2615=)
c.7790G= (p.Gly2597=)
c.7760G= (p.Gly2587=)
c.7715G= (p.Gly2572=)
c.7310G= (p.Gly2437=)
c.6668G= (p.Gly2223=)
c.4178G= (p.Gly1393=)
10g.71803070G>TCA377160995CDH23c.7655G>T (p.Gly2552Val)
c.1588G>T (n.1588G>T)
c.1252G>T (n.1252G>T)
c.7670G>T (p.Gly2557Val)
c.935G>T (p.Gly312Val)
n.1191G>T
c.7850G>T (p.Gly2617Val)
c.7784G>T (p.Gly2595Val)
c.7847G>T (p.Gly2616Val)
c.7844G>T (p.Gly2615Val)
c.7790G>T (p.Gly2597Val)
c.7760G>T (p.Gly2587Val)
c.7715G>T (p.Gly2572Val)
c.7310G>T (p.Gly2437Val)
c.6668G>T (p.Gly2223Val)
c.4178G>T (p.Gly1393Val)
10g.71803071C>ACA470062537CDH23c.7656C>A (p.Gly2552=)
c.1589C>A (n.1589C>A)
c.1253C>A (n.1253C>A)
c.7671C>A (p.Gly2557=)
c.936C>A (p.Gly312=)
n.1192C>A
c.7851C>A (p.Gly2617=)
c.7785C>A (p.Gly2595=)
c.7848C>A (p.Gly2616=)
c.7845C>A (p.Gly2615=)
c.7791C>A (p.Gly2597=)
c.7761C>A (p.Gly2587=)
c.7716C>A (p.Gly2572=)
c.7311C>A (p.Gly2437=)
c.6669C>A (p.Gly2223=)
c.4179C>A (p.Gly1393=)
 dbSNP gnomAD v3 gnomAD v4
10g.71803071C=CA1918880461CDH23c.7656C= (p.Gly2552=)
c.1589C= (n.1589C=)
c.1253C= (n.1253C=)
c.7671C= (p.Gly2557=)
c.936C= (p.Gly312=)
n.1192C=
c.7851C= (p.Gly2617=)
c.7785C= (p.Gly2595=)
c.7848C= (p.Gly2616=)
c.7845C= (p.Gly2615=)
c.7791C= (p.Gly2597=)
c.7761C= (p.Gly2587=)
c.7716C= (p.Gly2572=)
c.7311C= (p.Gly2437=)
c.6669C= (p.Gly2223=)
c.4179C= (p.Gly1393=)
10g.71803071C>GCA470062538CDH23c.7656C>G (p.Gly2552=)
c.1589C>G (n.1589C>G)
c.1253C>G (n.1253C>G)
c.7671C>G (p.Gly2557=)
c.936C>G (p.Gly312=)
n.1192C>G
c.7851C>G (p.Gly2617=)
c.7785C>G (p.Gly2595=)
c.7848C>G (p.Gly2616=)
c.7845C>G (p.Gly2615=)
c.7791C>G (p.Gly2597=)
c.7761C>G (p.Gly2587=)
c.7716C>G (p.Gly2572=)
c.7311C>G (p.Gly2437=)
c.6669C>G (p.Gly2223=)
c.4179C>G (p.Gly1393=)
 gnomAD v4
10g.71803071C>TCA209472524CDH23c.7656C>T (p.Gly2552=)
c.1589C>T (n.1589C>T)
c.1253C>T (n.1253C>T)
c.7671C>T (p.Gly2557=)
c.936C>T (p.Gly312=)
n.1192C>T
c.7851C>T (p.Gly2617=)
c.7785C>T (p.Gly2595=)
c.7848C>T (p.Gly2616=)
c.7845C>T (p.Gly2615=)
c.7791C>T (p.Gly2597=)
c.7761C>T (p.Gly2587=)
c.7716C>T (p.Gly2572=)
c.7311C>T (p.Gly2437=)
c.6669C>T (p.Gly2223=)
c.4179C>T (p.Gly1393=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71803072G>ACA5546397CDH23c.7657G>A (p.Val2553Met)
c.1590G>A (n.1590G>A)
c.1254G>A (n.1254G>A)
c.7672G>A (p.Val2558Met)
c.937G>A (p.Val313Met)
n.1193G>A
c.7852G>A (p.Val2618Met)
c.7786G>A (p.Val2596Met)
c.7849G>A (p.Val2617Met)
c.7846G>A (p.Val2616Met)
c.7792G>A (p.Val2598Met)
c.7762G>A (p.Val2588Met)
c.7717G>A (p.Val2573Met)
c.7312G>A (p.Val2438Met)
c.6670G>A (p.Val2224Met)
c.4180G>A (p.Val1394Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71803072G>CCA377160996CDH23c.7657G>C (p.Val2553Leu)
c.1590G>C (n.1590G>C)
c.1254G>C (n.1254G>C)
c.7672G>C (p.Val2558Leu)
c.937G>C (p.Val313Leu)
n.1193G>C
c.7852G>C (p.Val2618Leu)
c.7786G>C (p.Val2596Leu)
c.7849G>C (p.Val2617Leu)
c.7846G>C (p.Val2616Leu)
c.7792G>C (p.Val2598Leu)
c.7762G>C (p.Val2588Leu)
c.7717G>C (p.Val2573Leu)
c.7312G>C (p.Val2438Leu)
c.6670G>C (p.Val2224Leu)
c.4180G>C (p.Val1394Leu)
10g.71803072G=CA1918880462CDH23c.7657G= (p.Val2553=)
c.1590G= (n.1590G=)
c.1254G= (n.1254G=)
c.7672G= (p.Val2558=)
c.937G= (p.Val313=)
n.1193G=
c.7852G= (p.Val2618=)
c.7786G= (p.Val2596=)
c.7849G= (p.Val2617=)
c.7846G= (p.Val2616=)
c.7792G= (p.Val2598=)
c.7762G= (p.Val2588=)
c.7717G= (p.Val2573=)
c.7312G= (p.Val2438=)
c.6670G= (p.Val2224=)
c.4180G= (p.Val1394=)
10g.71803072G>TCA377160997CDH23c.7657G>T (p.Val2553Leu)
c.1590G>T (n.1590G>T)
c.1254G>T (n.1254G>T)
c.7672G>T (p.Val2558Leu)
c.937G>T (p.Val313Leu)
n.1193G>T
c.7852G>T (p.Val2618Leu)
c.7786G>T (p.Val2596Leu)
c.7849G>T (p.Val2617Leu)
c.7846G>T (p.Val2616Leu)
c.7792G>T (p.Val2598Leu)
c.7762G>T (p.Val2588Leu)
c.7717G>T (p.Val2573Leu)
c.7312G>T (p.Val2438Leu)
c.6670G>T (p.Val2224Leu)
c.4180G>T (p.Val1394Leu)
 gnomAD v4
10g.71803073T>ACA377160998CDH23c.7658T>A (p.Val2553Glu)
c.1591T>A (n.1591T>A)
c.1255T>A (n.1255T>A)
c.7673T>A (p.Val2558Glu)
c.938T>A (p.Val313Glu)
n.1194T>A
c.7853T>A (p.Val2618Glu)
c.7787T>A (p.Val2596Glu)
c.7850T>A (p.Val2617Glu)
c.7847T>A (p.Val2616Glu)
c.7793T>A (p.Val2598Glu)
c.7763T>A (p.Val2588Glu)
c.7718T>A (p.Val2573Glu)
c.7313T>A (p.Val2438Glu)
c.6671T>A (p.Val2224Glu)
c.4181T>A (p.Val1394Glu)
10g.71803073T>CCA377160999CDH23c.7658T>C (p.Val2553Ala)
c.1591T>C (n.1591T>C)
c.1255T>C (n.1255T>C)
c.7673T>C (p.Val2558Ala)
c.938T>C (p.Val313Ala)
n.1194T>C
c.7853T>C (p.Val2618Ala)
c.7787T>C (p.Val2596Ala)
c.7850T>C (p.Val2617Ala)
c.7847T>C (p.Val2616Ala)
c.7793T>C (p.Val2598Ala)
c.7763T>C (p.Val2588Ala)
c.7718T>C (p.Val2573Ala)
c.7313T>C (p.Val2438Ala)
c.6671T>C (p.Val2224Ala)
c.4181T>C (p.Val1394Ala)
10g.71803073T>GCA377161000CDH23c.7658T>G (p.Val2553Gly)
c.1591T>G (n.1591T>G)
c.1255T>G (n.1255T>G)
c.7673T>G (p.Val2558Gly)
c.938T>G (p.Val313Gly)
n.1194T>G
c.7853T>G (p.Val2618Gly)
c.7787T>G (p.Val2596Gly)
c.7850T>G (p.Val2617Gly)
c.7847T>G (p.Val2616Gly)
c.7793T>G (p.Val2598Gly)
c.7763T>G (p.Val2588Gly)
c.7718T>G (p.Val2573Gly)
c.7313T>G (p.Val2438Gly)
c.6671T>G (p.Val2224Gly)
c.4181T>G (p.Val1394Gly)
10g.71803074G>ACA209472531CDH23c.7659G>A (p.Val2553=)
c.1592G>A (n.1592G>A)
c.1256G>A (n.1256G>A)
c.7674G>A (p.Val2558=)
c.939G>A (p.Val313=)
n.1195G>A
c.7854G>A (p.Val2618=)
c.7788G>A (p.Val2596=)
c.7851G>A (p.Val2617=)
c.7848G>A (p.Val2616=)
c.7794G>A (p.Val2598=)
c.7764G>A (p.Val2588=)
c.7719G>A (p.Val2573=)
c.7314G>A (p.Val2438=)
c.6672G>A (p.Val2224=)
c.4182G>A (p.Val1394=)
 dbSNP gnomAD v4
10g.71803074G>CCA470062539CDH23c.7659G>C (p.Val2553=)
c.1592G>C (n.1592G>C)
c.1256G>C (n.1256G>C)
c.7674G>C (p.Val2558=)
c.939G>C (p.Val313=)
n.1195G>C
c.7854G>C (p.Val2618=)
c.7788G>C (p.Val2596=)
c.7851G>C (p.Val2617=)
c.7848G>C (p.Val2616=)
c.7794G>C (p.Val2598=)
c.7764G>C (p.Val2588=)
c.7719G>C (p.Val2573=)
c.7314G>C (p.Val2438=)
c.6672G>C (p.Val2224=)
c.4182G>C (p.Val1394=)
10g.71803074G=CA1918880463CDH23c.7659G= (p.Val2553=)
c.1592G= (n.1592G=)
c.1256G= (n.1256G=)
c.7674G= (p.Val2558=)
c.939G= (p.Val313=)
n.1195G=
c.7854G= (p.Val2618=)
c.7788G= (p.Val2596=)
c.7851G= (p.Val2617=)
c.7848G= (p.Val2616=)
c.7794G= (p.Val2598=)
c.7764G= (p.Val2588=)
c.7719G= (p.Val2573=)
c.7314G= (p.Val2438=)
c.6672G= (p.Val2224=)
c.4182G= (p.Val1394=)
10g.71803074G>TCA470062540CDH23c.7659G>T (p.Val2553=)
c.1592G>T (n.1592G>T)
c.1256G>T (n.1256G>T)
c.7674G>T (p.Val2558=)
c.939G>T (p.Val313=)
n.1195G>T
c.7854G>T (p.Val2618=)
c.7788G>T (p.Val2596=)
c.7851G>T (p.Val2617=)
c.7848G>T (p.Val2616=)
c.7794G>T (p.Val2598=)
c.7764G>T (p.Val2588=)
c.7719G>T (p.Val2573=)
c.7314G>T (p.Val2438=)
c.6672G>T (p.Val2224=)
c.4182G>T (p.Val1394=)
10g.71803075G>ACA377161001CDH23c.7660G>A (p.Glu2554Lys)
c.1593G>A (n.1593G>A)
c.1257G>A (n.1257G>A)
c.7675G>A (p.Glu2559Lys)
c.940G>A (p.Glu314Lys)
n.1196G>A
c.7855G>A (p.Glu2619Lys)
c.7789G>A (p.Glu2597Lys)
c.7852G>A (p.Glu2618Lys)
c.7849G>A (p.Glu2617Lys)
c.7795G>A (p.Glu2599Lys)
c.7765G>A (p.Glu2589Lys)
c.7720G>A (p.Glu2574Lys)
c.7315G>A (p.Glu2439Lys)
c.6673G>A (p.Glu2225Lys)
c.4183G>A (p.Glu1395Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71803075G>CCA377161002CDH23c.7660G>C (p.Glu2554Gln)
c.1593G>C (n.1593G>C)
c.1257G>C (n.1257G>C)
c.7675G>C (p.Glu2559Gln)
c.940G>C (p.Glu314Gln)
n.1196G>C
c.7855G>C (p.Glu2619Gln)
c.7789G>C (p.Glu2597Gln)
c.7852G>C (p.Glu2618Gln)
c.7849G>C (p.Glu2617Gln)
c.7795G>C (p.Glu2599Gln)
c.7765G>C (p.Glu2589Gln)
c.7720G>C (p.Glu2574Gln)
c.7315G>C (p.Glu2439Gln)
c.6673G>C (p.Glu2225Gln)
c.4183G>C (p.Glu1395Gln)
 dbSNP
10g.71803075G=CA1918880464CDH23c.7660G= (p.Glu2554=)
c.1593G= (n.1593G=)
c.1257G= (n.1257G=)
c.7675G= (p.Glu2559=)
c.940G= (p.Glu314=)
n.1196G=
c.7855G= (p.Glu2619=)
c.7789G= (p.Glu2597=)
c.7852G= (p.Glu2618=)
c.7849G= (p.Glu2617=)
c.7795G= (p.Glu2599=)
c.7765G= (p.Glu2589=)
c.7720G= (p.Glu2574=)
c.7315G= (p.Glu2439=)
c.6673G= (p.Glu2225=)
c.4183G= (p.Glu1395=)
10g.71803075G>TCA377161003CDH23c.7660G>T (p.Glu2554Ter)
c.1593G>T (n.1593G>T)
c.1257G>T (n.1257G>T)
c.7675G>T (p.Glu2559Ter)
c.940G>T (p.Glu314Ter)
n.1196G>T
c.7855G>T (p.Glu2619Ter)
c.7789G>T (p.Glu2597Ter)
c.7852G>T (p.Glu2618Ter)
c.7849G>T (p.Glu2617Ter)
c.7795G>T (p.Glu2599Ter)
c.7765G>T (p.Glu2589Ter)
c.7720G>T (p.Glu2574Ter)
c.7315G>T (p.Glu2439Ter)
c.6673G>T (p.Glu2225Ter)
c.4183G>T (p.Glu1395Ter)
 gnomAD v4 COSMIC
10g.71803076G>ACA377161004CDH23c.7660+1G>A (n.7660+1G>A)
c.1593+1G>A (n.1593+1G>A)
c.1257+1G>A (n.1257+1G>A)
c.7675+1G>A (n.7675+1G>A)
c.940+1G>A (n.940+1G>A)
n.1196+1G>A
c.7855+1G>A (n.7855+1G>A)
c.7789+1G>A (n.7789+1G>A)
c.7852+1G>A (n.7852+1G>A)
c.7849+1G>A (n.7849+1G>A)
c.7795+1G>A (n.7795+1G>A)
c.7765+1G>A (n.7765+1G>A)
c.7720+1G>A (n.7720+1G>A)
c.7315+1G>A (n.7315+1G>A)
c.6673+1G>A (n.6673+1G>A)
c.4183+1G>A (n.4183+1G>A)
10g.71803076G>CCA377161005CDH23c.7660+1G>C (n.7660+1G>C)
c.1593+1G>C (n.1593+1G>C)
c.1257+1G>C (n.1257+1G>C)
c.7675+1G>C (n.7675+1G>C)
c.940+1G>C (n.940+1G>C)
n.1196+1G>C
c.7855+1G>C (n.7855+1G>C)
c.7789+1G>C (n.7789+1G>C)
c.7852+1G>C (n.7852+1G>C)
c.7849+1G>C (n.7849+1G>C)
c.7795+1G>C (n.7795+1G>C)
c.7765+1G>C (n.7765+1G>C)
c.7720+1G>C (n.7720+1G>C)
c.7315+1G>C (n.7315+1G>C)
c.6673+1G>C (n.6673+1G>C)
c.4183+1G>C (n.4183+1G>C)
10g.71803076G=CA1918880465CDH23c.7660+1G= (n.7660+1G=)
c.1593+1G= (n.1593+1G=)
c.1257+1G= (n.1257+1G=)
c.7675+1G= (n.7675+1G=)
c.940+1G= (n.940+1G=)
n.1196+1G=
c.7855+1G= (n.7855+1G=)
c.7789+1G= (n.7789+1G=)
c.7852+1G= (n.7852+1G=)
c.7849+1G= (n.7849+1G=)
c.7795+1G= (n.7795+1G=)
c.7765+1G= (n.7765+1G=)
c.7720+1G= (n.7720+1G=)
c.7315+1G= (n.7315+1G=)
c.6673+1G= (n.6673+1G=)
c.4183+1G= (n.4183+1G=)
10g.71803076G>TCA16605685CDH23c.7660+1G>T (n.7660+1G>T)
c.1593+1G>T (n.1593+1G>T)
c.1257+1G>T (n.1257+1G>T)
c.7675+1G>T (n.7675+1G>T)
c.940+1G>T (n.940+1G>T)
n.1196+1G>T
c.7855+1G>T (n.7855+1G>T)
c.7789+1G>T (n.7789+1G>T)
c.7852+1G>T (n.7852+1G>T)
c.7849+1G>T (n.7849+1G>T)
c.7795+1G>T (n.7795+1G>T)
c.7765+1G>T (n.7765+1G>T)
c.7720+1G>T (n.7720+1G>T)
c.7315+1G>T (n.7315+1G>T)
c.6673+1G>T (n.6673+1G>T)
c.4183+1G>T (n.4183+1G>T)
 ClinVar dbSNP gnomAD v4
10g.71803077T>ACA377161006CDH23c.7660+2T>A (n.7660+2T>A)
c.1593+2T>A (n.1593+2T>A)
c.1257+2T>A (n.1257+2T>A)
c.7675+2T>A (n.7675+2T>A)
c.940+2T>A (n.940+2T>A)
n.1196+2T>A
c.7855+2T>A (n.7855+2T>A)
c.7789+2T>A (n.7789+2T>A)
c.7852+2T>A (n.7852+2T>A)
c.7849+2T>A (n.7849+2T>A)
c.7795+2T>A (n.7795+2T>A)
c.7765+2T>A (n.7765+2T>A)
c.7720+2T>A (n.7720+2T>A)
c.7315+2T>A (n.7315+2T>A)
c.6673+2T>A (n.6673+2T>A)
c.4183+2T>A (n.4183+2T>A)
10g.71803077T>CCA377161008CDH23c.7660+2T>C (n.7660+2T>C)
c.1593+2T>C (n.1593+2T>C)
c.1257+2T>C (n.1257+2T>C)
c.7675+2T>C (n.7675+2T>C)
c.940+2T>C (n.940+2T>C)
n.1196+2T>C
c.7855+2T>C (n.7855+2T>C)
c.7789+2T>C (n.7789+2T>C)
c.7852+2T>C (n.7852+2T>C)
c.7849+2T>C (n.7849+2T>C)
c.7795+2T>C (n.7795+2T>C)
c.7765+2T>C (n.7765+2T>C)
c.7720+2T>C (n.7720+2T>C)
c.7315+2T>C (n.7315+2T>C)
c.6673+2T>C (n.6673+2T>C)
c.4183+2T>C (n.4183+2T>C)
10g.71803077T>GCA377161007CDH23c.7660+2T>G (n.7660+2T>G)
c.1593+2T>G (n.1593+2T>G)
c.1257+2T>G (n.1257+2T>G)
c.7675+2T>G (n.7675+2T>G)
c.940+2T>G (n.940+2T>G)
n.1196+2T>G
c.7855+2T>G (n.7855+2T>G)
c.7789+2T>G (n.7789+2T>G)
c.7852+2T>G (n.7852+2T>G)
c.7849+2T>G (n.7849+2T>G)
c.7795+2T>G (n.7795+2T>G)
c.7765+2T>G (n.7765+2T>G)
c.7720+2T>G (n.7720+2T>G)
c.7315+2T>G (n.7315+2T>G)
c.6673+2T>G (n.6673+2T>G)
c.4183+2T>G (n.4183+2T>G)
10g.71803078A>TCA2574456753CDH23c.7660+3A>T (n.7660+3A>T)
c.1593+3A>T (n.1593+3A>T)
c.1257+3A>T (n.1257+3A>T)
c.7675+3A>T (n.7675+3A>T)
c.940+3A>T (n.940+3A>T)
n.1196+3A>T
c.7855+3A>T (n.7855+3A>T)
c.7789+3A>T (n.7789+3A>T)
c.7852+3A>T (n.7852+3A>T)
c.7849+3A>T (n.7849+3A>T)
c.7795+3A>T (n.7795+3A>T)
c.7765+3A>T (n.7765+3A>T)
c.7720+3A>T (n.7720+3A>T)
c.7315+3A>T (n.7315+3A>T)
c.6673+3A>T (n.6673+3A>T)
c.4183+3A>T (n.4183+3A>T)
 gnomAD v4
10g.71803080G>ACA5546398CDH23c.7660+5G>A (n.7660+5G>A)
c.1593+5G>A (n.1593+5G>A)
c.1257+5G>A (n.1257+5G>A)
c.7675+5G>A (n.7675+5G>A)
c.940+5G>A (n.940+5G>A)
n.1196+5G>A
c.7855+5G>A (n.7855+5G>A)
c.7789+5G>A (n.7789+5G>A)
c.7852+5G>A (n.7852+5G>A)
c.7849+5G>A (n.7849+5G>A)
c.7795+5G>A (n.7795+5G>A)
c.7765+5G>A (n.7765+5G>A)
c.7720+5G>A (n.7720+5G>A)
c.7315+5G>A (n.7315+5G>A)
c.6673+5G>A (n.6673+5G>A)
c.4183+5G>A (n.4183+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71803080G=CA1918880466CDH23c.7660+5G= (n.7660+5G=)
c.1593+5G= (n.1593+5G=)
c.1257+5G= (n.1257+5G=)
c.7675+5G= (n.7675+5G=)
c.940+5G= (n.940+5G=)
n.1196+5G=
c.7855+5G= (n.7855+5G=)
c.7789+5G= (n.7789+5G=)
c.7852+5G= (n.7852+5G=)
c.7849+5G= (n.7849+5G=)
c.7795+5G= (n.7795+5G=)
c.7765+5G= (n.7765+5G=)
c.7720+5G= (n.7720+5G=)
c.7315+5G= (n.7315+5G=)
c.6673+5G= (n.6673+5G=)
c.4183+5G= (n.4183+5G=)
10g.71803080_71803093delCA2788481321CDH23c.7660+5_7660+18del (n.7660+5_7660+18del)
c.1593+5_1593+18del (n.1593+5_1593+18del)
c.1257+5_1257+18del (n.1257+5_1257+18del)
c.7675+5_7675+18del (n.7675+5_7675+18del)
c.940+5_940+18del (n.940+5_940+18del)
n.1196+5_1196+18del
c.7855+5_7855+18del (n.7855+5_7855+18del)
c.7789+5_7789+18del (n.7789+5_7789+18del)
c.7852+5_7852+18del (n.7852+5_7852+18del)
c.7849+5_7849+18del (n.7849+5_7849+18del)
c.7795+5_7795+18del (n.7795+5_7795+18del)
c.7765+5_7765+18del (n.7765+5_7765+18del)
c.7720+5_7720+18del (n.7720+5_7720+18del)
c.7315+5_7315+18del (n.7315+5_7315+18del)
c.6673+5_6673+18del (n.6673+5_6673+18del)
c.4183+5_4183+18del (n.4183+5_4183+18del)
10g.71803081_71803082insAGACA2788481324CDH23c.7660+6_7660+7insAGA (n.7660+6_7660+7insAGA)
c.1593+6_1593+7insAGA (n.1593+6_1593+7insAGA)
c.1257+6_1257+7insAGA (n.1257+6_1257+7insAGA)
c.7675+6_7675+7insAGA (n.7675+6_7675+7insAGA)
c.940+6_940+7insAGA (n.940+6_940+7insAGA)
n.1196+6_1196+7insAGA
c.7855+6_7855+7insAGA (n.7855+6_7855+7insAGA)
c.7789+6_7789+7insAGA (n.7789+6_7789+7insAGA)
c.7852+6_7852+7insAGA (n.7852+6_7852+7insAGA)
c.7849+6_7849+7insAGA (n.7849+6_7849+7insAGA)
c.7795+6_7795+7insAGA (n.7795+6_7795+7insAGA)
c.7765+6_7765+7insAGA (n.7765+6_7765+7insAGA)
c.7720+6_7720+7insAGA (n.7720+6_7720+7insAGA)
c.7315+6_7315+7insAGA (n.7315+6_7315+7insAGA)
c.6673+6_6673+7insAGA (n.6673+6_6673+7insAGA)
c.4183+6_4183+7insAGA (n.4183+6_4183+7insAGA)
10g.71803084_71803119delCA2788481328CDH23c.7660+9_7660+44del (n.7660+9_7660+44del)
c.1593+9_1593+44del (n.1593+9_1593+44del)
c.1257+9_1257+44del (n.1257+9_1257+44del)
c.7675+9_7675+44del (n.7675+9_7675+44del)
c.940+9_940+44del (n.940+9_940+44del)
n.1196+9_1196+44del
c.7855+9_7855+44del (n.7855+9_7855+44del)
c.7789+9_7789+44del (n.7789+9_7789+44del)
c.7852+9_7852+44del (n.7852+9_7852+44del)
c.7849+9_7849+44del (n.7849+9_7849+44del)
c.7795+9_7795+44del (n.7795+9_7795+44del)
c.7765+9_7765+44del (n.7765+9_7765+44del)
c.7720+9_7720+44del (n.7720+9_7720+44del)
c.7315+9_7315+44del (n.7315+9_7315+44del)
c.6673+9_6673+44del (n.6673+9_6673+44del)
c.4183+9_4183+44del (n.4183+9_4183+44del)
10g.71803086_71803144delCA2788481330CDH23c.7660+11_7661-65del (n.7660+11_7661-65del)
c.1593+11_1594-65del (n.1593+11_1594-65del)
c.1257+11_1258-65del (n.1257+11_1258-65del)
c.7675+11_7676-65del (n.7675+11_7676-65del)
c.940+11_941-65del (n.940+11_941-65del)
n.1196+11_1197-65del
c.7855+11_7856-65del (n.7855+11_7856-65del)
c.7789+11_7790-65del (n.7789+11_7790-65del)
c.7852+11_7853-65del (n.7852+11_7853-65del)
c.7849+11_7850-65del (n.7849+11_7850-65del)
c.7795+11_7796-65del (n.7795+11_7796-65del)
c.7765+11_7766-65del (n.7765+11_7766-65del)
c.7720+11_7721-65del (n.7720+11_7721-65del)
c.7315+11_7316-65del (n.7315+11_7316-65del)
c.6673+11_6674-65del (n.6673+11_6674-65del)
c.4183+11_4184-65del (n.4183+11_4184-65del)
10g.71803083G>ACA1918880468CDH23c.7660+8G>A (n.7660+8G>A)
c.1593+8G>A (n.1593+8G>A)
c.1257+8G>A (n.1257+8G>A)
c.7675+8G>A (n.7675+8G>A)
c.940+8G>A (n.940+8G>A)
n.1196+8G>A
c.7855+8G>A (n.7855+8G>A)
c.7789+8G>A (n.7789+8G>A)
c.7852+8G>A (n.7852+8G>A)
c.7849+8G>A (n.7849+8G>A)
c.7795+8G>A (n.7795+8G>A)
c.7765+8G>A (n.7765+8G>A)
c.7720+8G>A (n.7720+8G>A)
c.7315+8G>A (n.7315+8G>A)
c.6673+8G>A (n.6673+8G>A)
c.4183+8G>A (n.4183+8G>A)
 dbSNP
10g.71803083G=CA1918880467CDH23c.7660+8G= (n.7660+8G=)
c.1593+8G= (n.1593+8G=)
c.1257+8G= (n.1257+8G=)
c.7675+8G= (n.7675+8G=)
c.940+8G= (n.940+8G=)
n.1196+8G=
c.7855+8G= (n.7855+8G=)
c.7789+8G= (n.7789+8G=)
c.7852+8G= (n.7852+8G=)
c.7849+8G= (n.7849+8G=)
c.7795+8G= (n.7795+8G=)
c.7765+8G= (n.7765+8G=)
c.7720+8G= (n.7720+8G=)
c.7315+8G= (n.7315+8G=)
c.6673+8G= (n.6673+8G=)
c.4183+8G= (n.4183+8G=)
10g.71803084C>ACA209472549CDH23c.7660+9C>A (n.7660+9C>A)
c.1593+9C>A (n.1593+9C>A)
c.1257+9C>A (n.1257+9C>A)
c.7675+9C>A (n.7675+9C>A)
c.940+9C>A (n.940+9C>A)
n.1196+9C>A
c.7855+9C>A (n.7855+9C>A)
c.7789+9C>A (n.7789+9C>A)
c.7852+9C>A (n.7852+9C>A)
c.7849+9C>A (n.7849+9C>A)
c.7795+9C>A (n.7795+9C>A)
c.7765+9C>A (n.7765+9C>A)
c.7720+9C>A (n.7720+9C>A)
c.7315+9C>A (n.7315+9C>A)
c.6673+9C>A (n.6673+9C>A)
c.4183+9C>A (n.4183+9C>A)
 ClinVar dbSNP gnomAD v4
10g.71803084C=CA1918880469CDH23c.7660+9C= (n.7660+9C=)
c.1593+9C= (n.1593+9C=)
c.1257+9C= (n.1257+9C=)
c.7675+9C= (n.7675+9C=)
c.940+9C= (n.940+9C=)
n.1196+9C=
c.7855+9C= (n.7855+9C=)
c.7789+9C= (n.7789+9C=)
c.7852+9C= (n.7852+9C=)
c.7849+9C= (n.7849+9C=)
c.7795+9C= (n.7795+9C=)
c.7765+9C= (n.7765+9C=)
c.7720+9C= (n.7720+9C=)
c.7315+9C= (n.7315+9C=)
c.6673+9C= (n.6673+9C=)
c.4183+9C= (n.4183+9C=)
10g.71803084C>TCA5546399CDH23c.7660+9C>T (n.7660+9C>T)
c.1593+9C>T (n.1593+9C>T)
c.1257+9C>T (n.1257+9C>T)
c.7675+9C>T (n.7675+9C>T)
c.940+9C>T (n.940+9C>T)
n.1196+9C>T
c.7855+9C>T (n.7855+9C>T)
c.7789+9C>T (n.7789+9C>T)
c.7852+9C>T (n.7852+9C>T)
c.7849+9C>T (n.7849+9C>T)
c.7795+9C>T (n.7795+9C>T)
c.7765+9C>T (n.7765+9C>T)
c.7720+9C>T (n.7720+9C>T)
c.7315+9C>T (n.7315+9C>T)
c.6673+9C>T (n.6673+9C>T)
c.4183+9C>T (n.4183+9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71803085C>TCA2573145308CDH23c.7660+10C>T (n.7660+10C>T)
c.1593+10C>T (n.1593+10C>T)
c.1257+10C>T (n.1257+10C>T)
c.7675+10C>T (n.7675+10C>T)
c.940+10C>T (n.940+10C>T)
n.1196+10C>T
c.7855+10C>T (n.7855+10C>T)
c.7789+10C>T (n.7789+10C>T)
c.7852+10C>T (n.7852+10C>T)
c.7849+10C>T (n.7849+10C>T)
c.7795+10C>T (n.7795+10C>T)
c.7765+10C>T (n.7765+10C>T)
c.7720+10C>T (n.7720+10C>T)
c.7315+10C>T (n.7315+10C>T)
c.6673+10C>T (n.6673+10C>T)
c.4183+10C>T (n.4183+10C>T)
 ClinVar dbSNP gnomAD v4
10g.71803088C>ACA2609580471CDH23c.7660+13C>A (n.7660+13C>A)
c.1593+13C>A (n.1593+13C>A)
c.1257+13C>A (n.1257+13C>A)
c.7675+13C>A (n.7675+13C>A)
c.940+13C>A (n.940+13C>A)
n.1196+13C>A
c.7855+13C>A (n.7855+13C>A)
c.7789+13C>A (n.7789+13C>A)
c.7852+13C>A (n.7852+13C>A)
c.7849+13C>A (n.7849+13C>A)
c.7795+13C>A (n.7795+13C>A)
c.7765+13C>A (n.7765+13C>A)
c.7720+13C>A (n.7720+13C>A)
c.7315+13C>A (n.7315+13C>A)
c.6673+13C>A (n.6673+13C>A)
c.4183+13C>A (n.4183+13C>A)
 gnomAD v4
10g.71803088C=CA1918880470CDH23c.7660+13C= (n.7660+13C=)
c.1593+13C= (n.1593+13C=)
c.1257+13C= (n.1257+13C=)
c.7675+13C= (n.7675+13C=)
c.940+13C= (n.940+13C=)
n.1196+13C=
c.7855+13C= (n.7855+13C=)
c.7789+13C= (n.7789+13C=)
c.7852+13C= (n.7852+13C=)
c.7849+13C= (n.7849+13C=)
c.7795+13C= (n.7795+13C=)
c.7765+13C= (n.7765+13C=)
c.7720+13C= (n.7720+13C=)
c.7315+13C= (n.7315+13C=)
c.6673+13C= (n.6673+13C=)
c.4183+13C= (n.4183+13C=)
10g.71803088C>TCA175521CDH23c.7660+13C>T (n.7660+13C>T)
c.1593+13C>T (n.1593+13C>T)
c.1257+13C>T (n.1257+13C>T)
c.7675+13C>T (n.7675+13C>T)
c.940+13C>T (n.940+13C>T)
n.1196+13C>T
c.7855+13C>T (n.7855+13C>T)
c.7789+13C>T (n.7789+13C>T)
c.7852+13C>T (n.7852+13C>T)
c.7849+13C>T (n.7849+13C>T)
c.7795+13C>T (n.7795+13C>T)
c.7765+13C>T (n.7765+13C>T)
c.7720+13C>T (n.7720+13C>T)
c.7315+13C>T (n.7315+13C>T)
c.6673+13C>T (n.6673+13C>T)
c.4183+13C>T (n.4183+13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71803090T>CCA2574456756CDH23c.7660+15T>C (n.7660+15T>C)
c.1593+15T>C (n.1593+15T>C)
c.1257+15T>C (n.1257+15T>C)
c.7675+15T>C (n.7675+15T>C)
c.940+15T>C (n.940+15T>C)
n.1196+15T>C
c.7855+15T>C (n.7855+15T>C)
c.7789+15T>C (n.7789+15T>C)
c.7852+15T>C (n.7852+15T>C)
c.7849+15T>C (n.7849+15T>C)
c.7795+15T>C (n.7795+15T>C)
c.7765+15T>C (n.7765+15T>C)
c.7720+15T>C (n.7720+15T>C)
c.7315+15T>C (n.7315+15T>C)
c.6673+15T>C (n.6673+15T>C)
c.4183+15T>C (n.4183+15T>C)
 ClinVar
10g.71803092G>ACA2609580473CDH23c.7660+17G>A (n.7660+17G>A)
c.1593+17G>A (n.1593+17G>A)
c.1257+17G>A (n.1257+17G>A)
c.7675+17G>A (n.7675+17G>A)
c.940+17G>A (n.940+17G>A)
n.1196+17G>A
c.7855+17G>A (n.7855+17G>A)
c.7789+17G>A (n.7789+17G>A)
c.7852+17G>A (n.7852+17G>A)
c.7849+17G>A (n.7849+17G>A)
c.7795+17G>A (n.7795+17G>A)
c.7765+17G>A (n.7765+17G>A)
c.7720+17G>A (n.7720+17G>A)
c.7315+17G>A (n.7315+17G>A)
c.6673+17G>A (n.6673+17G>A)
c.4183+17G>A (n.4183+17G>A)
 gnomAD v4
10g.71803093G>ACA209472560CDH23c.7660+18G>A (n.7660+18G>A)
c.1593+18G>A (n.1593+18G>A)
c.1257+18G>A (n.1257+18G>A)
c.7675+18G>A (n.7675+18G>A)
c.940+18G>A (n.940+18G>A)
n.1196+18G>A
c.7855+18G>A (n.7855+18G>A)
c.7789+18G>A (n.7789+18G>A)
c.7852+18G>A (n.7852+18G>A)
c.7849+18G>A (n.7849+18G>A)
c.7795+18G>A (n.7795+18G>A)
c.7765+18G>A (n.7765+18G>A)
c.7720+18G>A (n.7720+18G>A)
c.7315+18G>A (n.7315+18G>A)
c.6673+18G>A (n.6673+18G>A)
c.4183+18G>A (n.4183+18G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.71803093G=CA1918880471CDH23c.7660+18G= (n.7660+18G=)
c.1593+18G= (n.1593+18G=)
c.1257+18G= (n.1257+18G=)
c.7675+18G= (n.7675+18G=)
c.940+18G= (n.940+18G=)
n.1196+18G=
c.7855+18G= (n.7855+18G=)
c.7789+18G= (n.7789+18G=)
c.7852+18G= (n.7852+18G=)
c.7849+18G= (n.7849+18G=)
c.7795+18G= (n.7795+18G=)
c.7765+18G= (n.7765+18G=)
c.7720+18G= (n.7720+18G=)
c.7315+18G= (n.7315+18G=)
c.6673+18G= (n.6673+18G=)
c.4183+18G= (n.4183+18G=)
10g.71803093G>TCA2609580479CDH23c.7660+18G>T (n.7660+18G>T)
c.1593+18G>T (n.1593+18G>T)
c.1257+18G>T (n.1257+18G>T)
c.7675+18G>T (n.7675+18G>T)
c.940+18G>T (n.940+18G>T)
n.1196+18G>T
c.7855+18G>T (n.7855+18G>T)
c.7789+18G>T (n.7789+18G>T)
c.7852+18G>T (n.7852+18G>T)
c.7849+18G>T (n.7849+18G>T)
c.7795+18G>T (n.7795+18G>T)
c.7765+18G>T (n.7765+18G>T)
c.7720+18G>T (n.7720+18G>T)
c.7315+18G>T (n.7315+18G>T)
c.6673+18G>T (n.6673+18G>T)
c.4183+18G>T (n.4183+18G>T)
 gnomAD v4
10g.71803094A>GCA2697558464CDH23c.7660+19A>G (n.7660+19A>G)
c.1593+19A>G (n.1593+19A>G)
c.1257+19A>G (n.1257+19A>G)
c.7675+19A>G (n.7675+19A>G)
c.940+19A>G (n.940+19A>G)
n.1196+19A>G
c.7855+19A>G (n.7855+19A>G)
c.7789+19A>G (n.7789+19A>G)
c.7852+19A>G (n.7852+19A>G)
c.7849+19A>G (n.7849+19A>G)
c.7795+19A>G (n.7795+19A>G)
c.7765+19A>G (n.7765+19A>G)
c.7720+19A>G (n.7720+19A>G)
c.7315+19A>G (n.7315+19A>G)
c.6673+19A>G (n.6673+19A>G)
c.4183+19A>G (n.4183+19A>G)
 ClinVar
10g.71803094_71803095insAGTCA2788481341CDH23c.7660+19_7660+20insAGT (n.7660+19_7660+20insAGT)
c.1593+19_1593+20insAGT (n.1593+19_1593+20insAGT)
c.1257+19_1257+20insAGT (n.1257+19_1257+20insAGT)
c.7675+19_7675+20insAGT (n.7675+19_7675+20insAGT)
c.940+19_940+20insAGT (n.940+19_940+20insAGT)
n.1196+19_1196+20insAGT
c.7855+19_7855+20insAGT (n.7855+19_7855+20insAGT)
c.7789+19_7789+20insAGT (n.7789+19_7789+20insAGT)
c.7852+19_7852+20insAGT (n.7852+19_7852+20insAGT)
c.7849+19_7849+20insAGT (n.7849+19_7849+20insAGT)
c.7795+19_7795+20insAGT (n.7795+19_7795+20insAGT)
c.7765+19_7765+20insAGT (n.7765+19_7765+20insAGT)
c.7720+19_7720+20insAGT (n.7720+19_7720+20insAGT)
c.7315+19_7315+20insAGT (n.7315+19_7315+20insAGT)
c.6673+19_6673+20insAGT (n.6673+19_6673+20insAGT)
c.4183+19_4183+20insAGT (n.4183+19_4183+20insAGT)
10g.71803095C=CA1918880472CDH23c.7660+20C= (n.7660+20C=)
c.1593+20C= (n.1593+20C=)
c.1257+20C= (n.1257+20C=)
c.7675+20C= (n.7675+20C=)
c.940+20C= (n.940+20C=)
n.1196+20C=
c.7855+20C= (n.7855+20C=)
c.7789+20C= (n.7789+20C=)
c.7852+20C= (n.7852+20C=)
c.7849+20C= (n.7849+20C=)
c.7795+20C= (n.7795+20C=)
c.7765+20C= (n.7765+20C=)
c.7720+20C= (n.7720+20C=)
c.7315+20C= (n.7315+20C=)
c.6673+20C= (n.6673+20C=)
c.4183+20C= (n.4183+20C=)
10g.71803095C>TCA594706195CDH23c.7660+20C>T (n.7660+20C>T)
c.1593+20C>T (n.1593+20C>T)
c.1257+20C>T (n.1257+20C>T)
c.7675+20C>T (n.7675+20C>T)
c.940+20C>T (n.940+20C>T)
n.1196+20C>T
c.7855+20C>T (n.7855+20C>T)
c.7789+20C>T (n.7789+20C>T)
c.7852+20C>T (n.7852+20C>T)
c.7849+20C>T (n.7849+20C>T)
c.7795+20C>T (n.7795+20C>T)
c.7765+20C>T (n.7765+20C>T)
c.7720+20C>T (n.7720+20C>T)
c.7315+20C>T (n.7315+20C>T)
c.6673+20C>T (n.6673+20C>T)
c.4183+20C>T (n.4183+20C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.71803096A>CCA2609580481CDH23c.7660+21A>C (n.7660+21A>C)
c.1593+21A>C (n.1593+21A>C)
c.1257+21A>C (n.1257+21A>C)
c.7675+21A>C (n.7675+21A>C)
c.940+21A>C (n.940+21A>C)
n.1196+21A>C
c.7855+21A>C (n.7855+21A>C)
c.7789+21A>C (n.7789+21A>C)
c.7852+21A>C (n.7852+21A>C)
c.7849+21A>C (n.7849+21A>C)
c.7795+21A>C (n.7795+21A>C)
c.7765+21A>C (n.7765+21A>C)
c.7720+21A>C (n.7720+21A>C)
c.7315+21A>C (n.7315+21A>C)
c.6673+21A>C (n.6673+21A>C)
c.4183+21A>C (n.4183+21A>C)
 gnomAD v4
10g.71803096A>TCA2788481344CDH23c.7660+21A>T (n.7660+21A>T)
c.1593+21A>T (n.1593+21A>T)
c.1257+21A>T (n.1257+21A>T)
c.7675+21A>T (n.7675+21A>T)
c.940+21A>T (n.940+21A>T)
n.1196+21A>T
c.7855+21A>T (n.7855+21A>T)
c.7789+21A>T (n.7789+21A>T)
c.7852+21A>T (n.7852+21A>T)
c.7849+21A>T (n.7849+21A>T)
c.7795+21A>T (n.7795+21A>T)
c.7765+21A>T (n.7765+21A>T)
c.7720+21A>T (n.7720+21A>T)
c.7315+21A>T (n.7315+21A>T)
c.6673+21A>T (n.6673+21A>T)
c.4183+21A>T (n.4183+21A>T)
10g.71803097C=CA1918880473CDH23c.7660+22C= (n.7660+22C=)
c.1593+22C= (n.1593+22C=)
c.1257+22C= (n.1257+22C=)
c.7675+22C= (n.7675+22C=)
c.940+22C= (n.940+22C=)
n.1196+22C=
c.7855+22C= (n.7855+22C=)
c.7789+22C= (n.7789+22C=)
c.7852+22C= (n.7852+22C=)
c.7849+22C= (n.7849+22C=)
c.7795+22C= (n.7795+22C=)
c.7765+22C= (n.7765+22C=)
c.7720+22C= (n.7720+22C=)
c.7315+22C= (n.7315+22C=)
c.6673+22C= (n.6673+22C=)
c.4183+22C= (n.4183+22C=)
10g.71803097C>TCA5546400CDH23c.7660+22C>T (n.7660+22C>T)
c.1593+22C>T (n.1593+22C>T)
c.1257+22C>T (n.1257+22C>T)
c.7675+22C>T (n.7675+22C>T)
c.940+22C>T (n.940+22C>T)
n.1196+22C>T
c.7855+22C>T (n.7855+22C>T)
c.7789+22C>T (n.7789+22C>T)
c.7852+22C>T (n.7852+22C>T)
c.7849+22C>T (n.7849+22C>T)
c.7795+22C>T (n.7795+22C>T)
c.7765+22C>T (n.7765+22C>T)
c.7720+22C>T (n.7720+22C>T)
c.7315+22C>T (n.7315+22C>T)
c.6673+22C>T (n.6673+22C>T)
c.4183+22C>T (n.4183+22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched