Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71802949C>ACA377160490CDH23c.7534C>A (p.Pro2512Thr)
c.1467C>A (n.1467C>A)
c.1131C>A (n.1131C>A)
c.7549C>A (p.Pro2517Thr)
c.814C>A (p.Pro272Thr)
n.1070C>A
c.7729C>A (p.Pro2577Thr)
c.7663C>A (p.Pro2555Thr)
c.7726C>A (p.Pro2576Thr)
c.7723C>A (p.Pro2575Thr)
c.7669C>A (p.Pro2557Thr)
c.7639C>A (p.Pro2547Thr)
c.7594C>A (p.Pro2532Thr)
c.7189C>A (p.Pro2397Thr)
c.6547C>A (p.Pro2183Thr)
c.4057C>A (p.Pro1353Thr)
 gnomAD v4
10g.71802949C>GCA377160492CDH23c.7534C>G (p.Pro2512Ala)
c.1467C>G (n.1467C>G)
c.1131C>G (n.1131C>G)
c.7549C>G (p.Pro2517Ala)
c.814C>G (p.Pro272Ala)
n.1070C>G
c.7729C>G (p.Pro2577Ala)
c.7663C>G (p.Pro2555Ala)
c.7726C>G (p.Pro2576Ala)
c.7723C>G (p.Pro2575Ala)
c.7669C>G (p.Pro2557Ala)
c.7639C>G (p.Pro2547Ala)
c.7594C>G (p.Pro2532Ala)
c.7189C>G (p.Pro2397Ala)
c.6547C>G (p.Pro2183Ala)
c.4057C>G (p.Pro1353Ala)
10g.71802949C>TCA377160498CDH23c.7534C>T (p.Pro2512Ser)
c.1467C>T (n.1467C>T)
c.1131C>T (n.1131C>T)
c.7549C>T (p.Pro2517Ser)
c.814C>T (p.Pro272Ser)
n.1070C>T
c.7729C>T (p.Pro2577Ser)
c.7663C>T (p.Pro2555Ser)
c.7726C>T (p.Pro2576Ser)
c.7723C>T (p.Pro2575Ser)
c.7669C>T (p.Pro2557Ser)
c.7639C>T (p.Pro2547Ser)
c.7594C>T (p.Pro2532Ser)
c.7189C>T (p.Pro2397Ser)
c.6547C>T (p.Pro2183Ser)
c.4057C>T (p.Pro1353Ser)
10g.71802950C>ACA377160501CDH23c.7535C>A (p.Pro2512His)
c.1468C>A (n.1468C>A)
c.1132C>A (n.1132C>A)
c.7550C>A (p.Pro2517His)
c.815C>A (p.Pro272His)
n.1071C>A
c.7730C>A (p.Pro2577His)
c.7664C>A (p.Pro2555His)
c.7727C>A (p.Pro2576His)
c.7724C>A (p.Pro2575His)
c.7670C>A (p.Pro2557His)
c.7640C>A (p.Pro2547His)
c.7595C>A (p.Pro2532His)
c.7190C>A (p.Pro2397His)
c.6548C>A (p.Pro2183His)
c.4058C>A (p.Pro1353His)
10g.71802950C=CA1918880406CDH23c.7535C= (p.Pro2512=)
c.1468C= (n.1468C=)
c.1132C= (n.1132C=)
c.7550C= (p.Pro2517=)
c.815C= (p.Pro272=)
n.1071C=
c.7730C= (p.Pro2577=)
c.7664C= (p.Pro2555=)
c.7727C= (p.Pro2576=)
c.7724C= (p.Pro2575=)
c.7670C= (p.Pro2557=)
c.7640C= (p.Pro2547=)
c.7595C= (p.Pro2532=)
c.7190C= (p.Pro2397=)
c.6548C= (p.Pro2183=)
c.4058C= (p.Pro1353=)
10g.71802950C>GCA377160502CDH23c.7535C>G (p.Pro2512Arg)
c.1468C>G (n.1468C>G)
c.1132C>G (n.1132C>G)
c.7550C>G (p.Pro2517Arg)
c.815C>G (p.Pro272Arg)
n.1071C>G
c.7730C>G (p.Pro2577Arg)
c.7664C>G (p.Pro2555Arg)
c.7727C>G (p.Pro2576Arg)
c.7724C>G (p.Pro2575Arg)
c.7670C>G (p.Pro2557Arg)
c.7640C>G (p.Pro2547Arg)
c.7595C>G (p.Pro2532Arg)
c.7190C>G (p.Pro2397Arg)
c.6548C>G (p.Pro2183Arg)
c.4058C>G (p.Pro1353Arg)
10g.71802950C>TCA377160503CDH23c.7535C>T (p.Pro2512Leu)
c.1468C>T (n.1468C>T)
c.1132C>T (n.1132C>T)
c.7550C>T (p.Pro2517Leu)
c.815C>T (p.Pro272Leu)
n.1071C>T
c.7730C>T (p.Pro2577Leu)
c.7664C>T (p.Pro2555Leu)
c.7727C>T (p.Pro2576Leu)
c.7724C>T (p.Pro2575Leu)
c.7670C>T (p.Pro2557Leu)
c.7640C>T (p.Pro2547Leu)
c.7595C>T (p.Pro2532Leu)
c.7190C>T (p.Pro2397Leu)
c.6548C>T (p.Pro2183Leu)
c.4058C>T (p.Pro1353Leu)
 dbSNP gnomAD v4
10g.71802951C>ACA209472436CDH23c.7536C>A (p.Pro2512=)
c.1469C>A (n.1469C>A)
c.1133C>A (n.1133C>A)
c.7551C>A (p.Pro2517=)
c.816C>A (p.Pro272=)
n.1072C>A
c.7731C>A (p.Pro2577=)
c.7665C>A (p.Pro2555=)
c.7728C>A (p.Pro2576=)
c.7725C>A (p.Pro2575=)
c.7671C>A (p.Pro2557=)
c.7641C>A (p.Pro2547=)
c.7596C>A (p.Pro2532=)
c.7191C>A (p.Pro2397=)
c.6549C>A (p.Pro2183=)
c.4059C>A (p.Pro1353=)
 dbSNP gnomAD v4
10g.71802951C=CA1918880407CDH23c.7536C= (p.Pro2512=)
c.1469C= (n.1469C=)
c.1133C= (n.1133C=)
c.7551C= (p.Pro2517=)
c.816C= (p.Pro272=)
n.1072C=
c.7731C= (p.Pro2577=)
c.7665C= (p.Pro2555=)
c.7728C= (p.Pro2576=)
c.7725C= (p.Pro2575=)
c.7671C= (p.Pro2557=)
c.7641C= (p.Pro2547=)
c.7596C= (p.Pro2532=)
c.7191C= (p.Pro2397=)
c.6549C= (p.Pro2183=)
c.4059C= (p.Pro1353=)
10g.71802951C>GCA470062469CDH23c.7536C>G (p.Pro2512=)
c.1469C>G (n.1469C>G)
c.1133C>G (n.1133C>G)
c.7551C>G (p.Pro2517=)
c.816C>G (p.Pro272=)
n.1072C>G
c.7731C>G (p.Pro2577=)
c.7665C>G (p.Pro2555=)
c.7728C>G (p.Pro2576=)
c.7725C>G (p.Pro2575=)
c.7671C>G (p.Pro2557=)
c.7641C>G (p.Pro2547=)
c.7596C>G (p.Pro2532=)
c.7191C>G (p.Pro2397=)
c.6549C>G (p.Pro2183=)
c.4059C>G (p.Pro1353=)
 dbSNP
10g.71802951C>TCA5546374CDH23c.7536C>T (p.Pro2512=)
c.1469C>T (n.1469C>T)
c.1133C>T (n.1133C>T)
c.7551C>T (p.Pro2517=)
c.816C>T (p.Pro272=)
n.1072C>T
c.7731C>T (p.Pro2577=)
c.7665C>T (p.Pro2555=)
c.7728C>T (p.Pro2576=)
c.7725C>T (p.Pro2575=)
c.7671C>T (p.Pro2557=)
c.7641C>T (p.Pro2547=)
c.7596C>T (p.Pro2532=)
c.7191C>T (p.Pro2397=)
c.6549C>T (p.Pro2183=)
c.4059C>T (p.Pro1353=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71802952C>ACA377160509CDH23c.7537C>A (p.Gln2513Lys)
c.1470C>A (n.1470C>A)
c.1134C>A (n.1134C>A)
c.7552C>A (p.Gln2518Lys)
c.817C>A (p.Gln273Lys)
n.1073C>A
c.7732C>A (p.Gln2578Lys)
c.7666C>A (p.Gln2556Lys)
c.7729C>A (p.Gln2577Lys)
c.7726C>A (p.Gln2576Lys)
c.7672C>A (p.Gln2558Lys)
c.7642C>A (p.Gln2548Lys)
c.7597C>A (p.Gln2533Lys)
c.7192C>A (p.Gln2398Lys)
c.6550C>A (p.Gln2184Lys)
c.4060C>A (p.Gln1354Lys)
10g.71802952C>GCA377160507CDH23c.7537C>G (p.Gln2513Glu)
c.1470C>G (n.1470C>G)
c.1134C>G (n.1134C>G)
c.7552C>G (p.Gln2518Glu)
c.817C>G (p.Gln273Glu)
n.1073C>G
c.7732C>G (p.Gln2578Glu)
c.7666C>G (p.Gln2556Glu)
c.7729C>G (p.Gln2577Glu)
c.7726C>G (p.Gln2576Glu)
c.7672C>G (p.Gln2558Glu)
c.7642C>G (p.Gln2548Glu)
c.7597C>G (p.Gln2533Glu)
c.7192C>G (p.Gln2398Glu)
c.6550C>G (p.Gln2184Glu)
c.4060C>G (p.Gln1354Glu)
10g.71802952C>TCA377160508CDH23c.7537C>T (p.Gln2513Ter)
c.1470C>T (n.1470C>T)
c.1134C>T (n.1134C>T)
c.7552C>T (p.Gln2518Ter)
c.817C>T (p.Gln273Ter)
n.1073C>T
c.7732C>T (p.Gln2578Ter)
c.7666C>T (p.Gln2556Ter)
c.7729C>T (p.Gln2577Ter)
c.7726C>T (p.Gln2576Ter)
c.7672C>T (p.Gln2558Ter)
c.7642C>T (p.Gln2548Ter)
c.7597C>T (p.Gln2533Ter)
c.7192C>T (p.Gln2398Ter)
c.6550C>T (p.Gln2184Ter)
c.4060C>T (p.Gln1354Ter)
10g.71802953A>CCA377160511CDH23c.7538A>C (p.Gln2513Pro)
c.1471A>C (n.1471A>C)
c.1135A>C (n.1135A>C)
c.7553A>C (p.Gln2518Pro)
c.818A>C (p.Gln273Pro)
n.1074A>C
c.7733A>C (p.Gln2578Pro)
c.7667A>C (p.Gln2556Pro)
c.7730A>C (p.Gln2577Pro)
c.7727A>C (p.Gln2576Pro)
c.7673A>C (p.Gln2558Pro)
c.7643A>C (p.Gln2548Pro)
c.7598A>C (p.Gln2533Pro)
c.7193A>C (p.Gln2398Pro)
c.6551A>C (p.Gln2184Pro)
c.4061A>C (p.Gln1354Pro)
10g.71802953A>GCA377160513CDH23c.7538A>G (p.Gln2513Arg)
c.1471A>G (n.1471A>G)
c.1135A>G (n.1135A>G)
c.7553A>G (p.Gln2518Arg)
c.818A>G (p.Gln273Arg)
n.1074A>G
c.7733A>G (p.Gln2578Arg)
c.7667A>G (p.Gln2556Arg)
c.7730A>G (p.Gln2577Arg)
c.7727A>G (p.Gln2576Arg)
c.7673A>G (p.Gln2558Arg)
c.7643A>G (p.Gln2548Arg)
c.7598A>G (p.Gln2533Arg)
c.7193A>G (p.Gln2398Arg)
c.6551A>G (p.Gln2184Arg)
c.4061A>G (p.Gln1354Arg)
10g.71802953A>TCA377160515CDH23c.7538A>T (p.Gln2513Leu)
c.1471A>T (n.1471A>T)
c.1135A>T (n.1135A>T)
c.7553A>T (p.Gln2518Leu)
c.818A>T (p.Gln273Leu)
n.1074A>T
c.7733A>T (p.Gln2578Leu)
c.7667A>T (p.Gln2556Leu)
c.7730A>T (p.Gln2577Leu)
c.7727A>T (p.Gln2576Leu)
c.7673A>T (p.Gln2558Leu)
c.7643A>T (p.Gln2548Leu)
c.7598A>T (p.Gln2533Leu)
c.7193A>T (p.Gln2398Leu)
c.6551A>T (p.Gln2184Leu)
c.4061A>T (p.Gln1354Leu)
10g.71802954G>ACA470062470CDH23c.7539G>A (p.Gln2513=)
c.1472G>A (n.1472G>A)
c.1136G>A (n.1136G>A)
c.7554G>A (p.Gln2518=)
c.819G>A (p.Gln273=)
n.1075G>A
c.7734G>A (p.Gln2578=)
c.7668G>A (p.Gln2556=)
c.7731G>A (p.Gln2577=)
c.7728G>A (p.Gln2576=)
c.7674G>A (p.Gln2558=)
c.7644G>A (p.Gln2548=)
c.7599G>A (p.Gln2533=)
c.7194G>A (p.Gln2398=)
c.6552G>A (p.Gln2184=)
c.4062G>A (p.Gln1354=)
10g.71802954G>CCA377160517CDH23c.7539G>C (p.Gln2513His)
c.1472G>C (n.1472G>C)
c.1136G>C (n.1136G>C)
c.7554G>C (p.Gln2518His)
c.819G>C (p.Gln273His)
n.1075G>C
c.7734G>C (p.Gln2578His)
c.7668G>C (p.Gln2556His)
c.7731G>C (p.Gln2577His)
c.7728G>C (p.Gln2576His)
c.7674G>C (p.Gln2558His)
c.7644G>C (p.Gln2548His)
c.7599G>C (p.Gln2533His)
c.7194G>C (p.Gln2398His)
c.6552G>C (p.Gln2184His)
c.4062G>C (p.Gln1354His)
 dbSNP gnomAD v2 gnomAD v4
10g.71802954G=CA1918880408CDH23c.7539G= (p.Gln2513=)
c.1472G= (n.1472G=)
c.1136G= (n.1136G=)
c.7554G= (p.Gln2518=)
c.819G= (p.Gln273=)
n.1075G=
c.7734G= (p.Gln2578=)
c.7668G= (p.Gln2556=)
c.7731G= (p.Gln2577=)
c.7728G= (p.Gln2576=)
c.7674G= (p.Gln2558=)
c.7644G= (p.Gln2548=)
c.7599G= (p.Gln2533=)
c.7194G= (p.Gln2398=)
c.6552G= (p.Gln2184=)
c.4062G= (p.Gln1354=)
10g.71802954G>TCA377160519CDH23c.7539G>T (p.Gln2513His)
c.1472G>T (n.1472G>T)
c.1136G>T (n.1136G>T)
c.7554G>T (p.Gln2518His)
c.819G>T (p.Gln273His)
n.1075G>T
c.7734G>T (p.Gln2578His)
c.7668G>T (p.Gln2556His)
c.7731G>T (p.Gln2577His)
c.7728G>T (p.Gln2576His)
c.7674G>T (p.Gln2558His)
c.7644G>T (p.Gln2548His)
c.7599G>T (p.Gln2533His)
c.7194G>T (p.Gln2398His)
c.6552G>T (p.Gln2184His)
c.4062G>T (p.Gln1354His)
10g.71802955T>ACA377160520CDH23c.7540T>A (p.Phe2514Ile)
c.1473T>A (n.1473T>A)
c.1137T>A (n.1137T>A)
c.7555T>A (p.Phe2519Ile)
c.820T>A (p.Phe274Ile)
n.1076T>A
c.7735T>A (p.Phe2579Ile)
c.7669T>A (p.Phe2557Ile)
c.7732T>A (p.Phe2578Ile)
c.7729T>A (p.Phe2577Ile)
c.7675T>A (p.Phe2559Ile)
c.7645T>A (p.Phe2549Ile)
c.7600T>A (p.Phe2534Ile)
c.7195T>A (p.Phe2399Ile)
c.6553T>A (p.Phe2185Ile)
c.4063T>A (p.Phe1355Ile)
10g.71802955T>CCA377160522CDH23c.7540T>C (p.Phe2514Leu)
c.1473T>C (n.1473T>C)
c.1137T>C (n.1137T>C)
c.7555T>C (p.Phe2519Leu)
c.820T>C (p.Phe274Leu)
n.1076T>C
c.7735T>C (p.Phe2579Leu)
c.7669T>C (p.Phe2557Leu)
c.7732T>C (p.Phe2578Leu)
c.7729T>C (p.Phe2577Leu)
c.7675T>C (p.Phe2559Leu)
c.7645T>C (p.Phe2549Leu)
c.7600T>C (p.Phe2534Leu)
c.7195T>C (p.Phe2399Leu)
c.6553T>C (p.Phe2185Leu)
c.4063T>C (p.Phe1355Leu)
10g.71802955T>GCA377160523CDH23c.7540T>G (p.Phe2514Val)
c.1473T>G (n.1473T>G)
c.1137T>G (n.1137T>G)
c.7555T>G (p.Phe2519Val)
c.820T>G (p.Phe274Val)
n.1076T>G
c.7735T>G (p.Phe2579Val)
c.7669T>G (p.Phe2557Val)
c.7732T>G (p.Phe2578Val)
c.7729T>G (p.Phe2577Val)
c.7675T>G (p.Phe2559Val)
c.7645T>G (p.Phe2549Val)
c.7600T>G (p.Phe2534Val)
c.7195T>G (p.Phe2399Val)
c.6553T>G (p.Phe2185Val)
c.4063T>G (p.Phe1355Val)
10g.71802956T>ACA377160527CDH23c.7541T>A (p.Phe2514Tyr)
c.1474T>A (n.1474T>A)
c.1138T>A (n.1138T>A)
c.7556T>A (p.Phe2519Tyr)
c.821T>A (p.Phe274Tyr)
n.1077T>A
c.7736T>A (p.Phe2579Tyr)
c.7670T>A (p.Phe2557Tyr)
c.7733T>A (p.Phe2578Tyr)
c.7730T>A (p.Phe2577Tyr)
c.7676T>A (p.Phe2559Tyr)
c.7646T>A (p.Phe2549Tyr)
c.7601T>A (p.Phe2534Tyr)
c.7196T>A (p.Phe2399Tyr)
c.6554T>A (p.Phe2185Tyr)
c.4064T>A (p.Phe1355Tyr)
10g.71802956T>CCA377160528CDH23c.7541T>C (p.Phe2514Ser)
c.1474T>C (n.1474T>C)
c.1138T>C (n.1138T>C)
c.7556T>C (p.Phe2519Ser)
c.821T>C (p.Phe274Ser)
n.1077T>C
c.7736T>C (p.Phe2579Ser)
c.7670T>C (p.Phe2557Ser)
c.7733T>C (p.Phe2578Ser)
c.7730T>C (p.Phe2577Ser)
c.7676T>C (p.Phe2559Ser)
c.7646T>C (p.Phe2549Ser)
c.7601T>C (p.Phe2534Ser)
c.7196T>C (p.Phe2399Ser)
c.6554T>C (p.Phe2185Ser)
c.4064T>C (p.Phe1355Ser)
10g.71802956T>GCA377160531CDH23c.7541T>G (p.Phe2514Cys)
c.1474T>G (n.1474T>G)
c.1138T>G (n.1138T>G)
c.7556T>G (p.Phe2519Cys)
c.821T>G (p.Phe274Cys)
n.1077T>G
c.7736T>G (p.Phe2579Cys)
c.7670T>G (p.Phe2557Cys)
c.7733T>G (p.Phe2578Cys)
c.7730T>G (p.Phe2577Cys)
c.7676T>G (p.Phe2559Cys)
c.7646T>G (p.Phe2549Cys)
c.7601T>G (p.Phe2534Cys)
c.7196T>G (p.Phe2399Cys)
c.6554T>G (p.Phe2185Cys)
c.4064T>G (p.Phe1355Cys)
10g.71802957C>ACA377160534CDH23c.7542C>A (p.Phe2514Leu)
c.1475C>A (n.1475C>A)
c.1139C>A (n.1139C>A)
c.7557C>A (p.Phe2519Leu)
c.822C>A (p.Phe274Leu)
n.1078C>A
c.7737C>A (p.Phe2579Leu)
c.7671C>A (p.Phe2557Leu)
c.7734C>A (p.Phe2578Leu)
c.7731C>A (p.Phe2577Leu)
c.7677C>A (p.Phe2559Leu)
c.7647C>A (p.Phe2549Leu)
c.7602C>A (p.Phe2534Leu)
c.7197C>A (p.Phe2399Leu)
c.6555C>A (p.Phe2185Leu)
c.4065C>A (p.Phe1355Leu)
 COSMIC
10g.71802957C>GCA377160533CDH23c.7542C>G (p.Phe2514Leu)
c.1475C>G (n.1475C>G)
c.1139C>G (n.1139C>G)
c.7557C>G (p.Phe2519Leu)
c.822C>G (p.Phe274Leu)
n.1078C>G
c.7737C>G (p.Phe2579Leu)
c.7671C>G (p.Phe2557Leu)
c.7734C>G (p.Phe2578Leu)
c.7731C>G (p.Phe2577Leu)
c.7677C>G (p.Phe2559Leu)
c.7647C>G (p.Phe2549Leu)
c.7602C>G (p.Phe2534Leu)
c.7197C>G (p.Phe2399Leu)
c.6555C>G (p.Phe2185Leu)
c.4065C>G (p.Phe1355Leu)
10g.71802957C>TCA470062471CDH23c.7542C>T (p.Phe2514=)
c.1475C>T (n.1475C>T)
c.1139C>T (n.1139C>T)
c.7557C>T (p.Phe2519=)
c.822C>T (p.Phe274=)
n.1078C>T
c.7737C>T (p.Phe2579=)
c.7671C>T (p.Phe2557=)
c.7734C>T (p.Phe2578=)
c.7731C>T (p.Phe2577=)
c.7677C>T (p.Phe2559=)
c.7647C>T (p.Phe2549=)
c.7602C>T (p.Phe2534=)
c.7197C>T (p.Phe2399=)
c.6555C>T (p.Phe2185=)
c.4065C>T (p.Phe1355=)
10g.71802958A>CCA377160536CDH23c.7543A>C (p.Ser2515Arg)
c.1476A>C (n.1476A>C)
c.1140A>C (n.1140A>C)
c.7558A>C (p.Ser2520Arg)
c.823A>C (p.Ser275Arg)
n.1079A>C
c.7738A>C (p.Ser2580Arg)
c.7672A>C (p.Ser2558Arg)
c.7735A>C (p.Ser2579Arg)
c.7732A>C (p.Ser2578Arg)
c.7678A>C (p.Ser2560Arg)
c.7648A>C (p.Ser2550Arg)
c.7603A>C (p.Ser2535Arg)
c.7198A>C (p.Ser2400Arg)
c.6556A>C (p.Ser2186Arg)
c.4066A>C (p.Ser1356Arg)
 gnomAD v4
10g.71802958A>GCA377160538CDH23c.7543A>G (p.Ser2515Gly)
c.1476A>G (n.1476A>G)
c.1140A>G (n.1140A>G)
c.7558A>G (p.Ser2520Gly)
c.823A>G (p.Ser275Gly)
n.1079A>G
c.7738A>G (p.Ser2580Gly)
c.7672A>G (p.Ser2558Gly)
c.7735A>G (p.Ser2579Gly)
c.7732A>G (p.Ser2578Gly)
c.7678A>G (p.Ser2560Gly)
c.7648A>G (p.Ser2550Gly)
c.7603A>G (p.Ser2535Gly)
c.7198A>G (p.Ser2400Gly)
c.6556A>G (p.Ser2186Gly)
c.4066A>G (p.Ser1356Gly)
10g.71802958A>TCA377160541CDH23c.7543A>T (p.Ser2515Cys)
c.1476A>T (n.1476A>T)
c.1140A>T (n.1140A>T)
c.7558A>T (p.Ser2520Cys)
c.823A>T (p.Ser275Cys)
n.1079A>T
c.7738A>T (p.Ser2580Cys)
c.7672A>T (p.Ser2558Cys)
c.7735A>T (p.Ser2579Cys)
c.7732A>T (p.Ser2578Cys)
c.7678A>T (p.Ser2560Cys)
c.7648A>T (p.Ser2550Cys)
c.7603A>T (p.Ser2535Cys)
c.7198A>T (p.Ser2400Cys)
c.6556A>T (p.Ser2186Cys)
c.4066A>T (p.Ser1356Cys)
10g.71802959G>ACA377160543CDH23c.7544G>A (p.Ser2515Asn)
c.1477G>A (n.1477G>A)
c.1141G>A (n.1141G>A)
c.7559G>A (p.Ser2520Asn)
c.824G>A (p.Ser275Asn)
n.1080G>A
c.7739G>A (p.Ser2580Asn)
c.7673G>A (p.Ser2558Asn)
c.7736G>A (p.Ser2579Asn)
c.7733G>A (p.Ser2578Asn)
c.7679G>A (p.Ser2560Asn)
c.7649G>A (p.Ser2550Asn)
c.7604G>A (p.Ser2535Asn)
c.7199G>A (p.Ser2400Asn)
c.6557G>A (p.Ser2186Asn)
c.4067G>A (p.Ser1356Asn)
 dbSNP gnomAD v4
10g.71802959G>CCA377160545CDH23c.7544G>C (p.Ser2515Thr)
c.1477G>C (n.1477G>C)
c.1141G>C (n.1141G>C)
c.7559G>C (p.Ser2520Thr)
c.824G>C (p.Ser275Thr)
n.1080G>C
c.7739G>C (p.Ser2580Thr)
c.7673G>C (p.Ser2558Thr)
c.7736G>C (p.Ser2579Thr)
c.7733G>C (p.Ser2578Thr)
c.7679G>C (p.Ser2560Thr)
c.7649G>C (p.Ser2550Thr)
c.7604G>C (p.Ser2535Thr)
c.7199G>C (p.Ser2400Thr)
c.6557G>C (p.Ser2186Thr)
c.4067G>C (p.Ser1356Thr)
10g.71802959G=CA1918880409CDH23c.7544G= (p.Ser2515=)
c.1477G= (n.1477G=)
c.1141G= (n.1141G=)
c.7559G= (p.Ser2520=)
c.824G= (p.Ser275=)
n.1080G=
c.7739G= (p.Ser2580=)
c.7673G= (p.Ser2558=)
c.7736G= (p.Ser2579=)
c.7733G= (p.Ser2578=)
c.7679G= (p.Ser2560=)
c.7649G= (p.Ser2550=)
c.7604G= (p.Ser2535=)
c.7199G= (p.Ser2400=)
c.6557G= (p.Ser2186=)
c.4067G= (p.Ser1356=)
10g.71802959G>TCA377160546CDH23c.7544G>T (p.Ser2515Ile)
c.1477G>T (n.1477G>T)
c.1141G>T (n.1141G>T)
c.7559G>T (p.Ser2520Ile)
c.824G>T (p.Ser275Ile)
n.1080G>T
c.7739G>T (p.Ser2580Ile)
c.7673G>T (p.Ser2558Ile)
c.7736G>T (p.Ser2579Ile)
c.7733G>T (p.Ser2578Ile)
c.7679G>T (p.Ser2560Ile)
c.7649G>T (p.Ser2550Ile)
c.7604G>T (p.Ser2535Ile)
c.7199G>T (p.Ser2400Ile)
c.6557G>T (p.Ser2186Ile)
c.4067G>T (p.Ser1356Ile)
10g.71802960C>ACA377160550CDH23c.7545C>A (p.Ser2515Arg)
c.1478C>A (n.1478C>A)
c.1142C>A (n.1142C>A)
c.7560C>A (p.Ser2520Arg)
c.825C>A (p.Ser275Arg)
n.1081C>A
c.7740C>A (p.Ser2580Arg)
c.7674C>A (p.Ser2558Arg)
c.7737C>A (p.Ser2579Arg)
c.7734C>A (p.Ser2578Arg)
c.7680C>A (p.Ser2560Arg)
c.7650C>A (p.Ser2550Arg)
c.7605C>A (p.Ser2535Arg)
c.7200C>A (p.Ser2400Arg)
c.6558C>A (p.Ser2186Arg)
c.4068C>A (p.Ser1356Arg)
10g.71802960C>GCA377160548CDH23c.7545C>G (p.Ser2515Arg)
c.1478C>G (n.1478C>G)
c.1142C>G (n.1142C>G)
c.7560C>G (p.Ser2520Arg)
c.825C>G (p.Ser275Arg)
n.1081C>G
c.7740C>G (p.Ser2580Arg)
c.7674C>G (p.Ser2558Arg)
c.7737C>G (p.Ser2579Arg)
c.7734C>G (p.Ser2578Arg)
c.7680C>G (p.Ser2560Arg)
c.7650C>G (p.Ser2550Arg)
c.7605C>G (p.Ser2535Arg)
c.7200C>G (p.Ser2400Arg)
c.6558C>G (p.Ser2186Arg)
c.4068C>G (p.Ser1356Arg)
10g.71802960C>TCA470062472CDH23c.7545C>T (p.Ser2515=)
c.1478C>T (n.1478C>T)
c.1142C>T (n.1142C>T)
c.7560C>T (p.Ser2520=)
c.825C>T (p.Ser275=)
n.1081C>T
c.7740C>T (p.Ser2580=)
c.7674C>T (p.Ser2558=)
c.7737C>T (p.Ser2579=)
c.7734C>T (p.Ser2578=)
c.7680C>T (p.Ser2560=)
c.7650C>T (p.Ser2550=)
c.7605C>T (p.Ser2535=)
c.7200C>T (p.Ser2400=)
c.6558C>T (p.Ser2186=)
c.4068C>T (p.Ser1356=)
 gnomAD v4
10g.71802961A=CA1918880410CDH23c.7546A= (p.Thr2516=)
c.1479A= (n.1479A=)
c.1143A= (n.1143A=)
c.7561A= (p.Thr2521=)
c.826A= (p.Thr276=)
n.1082A=
c.7741A= (p.Thr2581=)
c.7675A= (p.Thr2559=)
c.7738A= (p.Thr2580=)
c.7735A= (p.Thr2579=)
c.7681A= (p.Thr2561=)
c.7651A= (p.Thr2551=)
c.7606A= (p.Thr2536=)
c.7201A= (p.Thr2401=)
c.6559A= (p.Thr2187=)
c.4069A= (p.Thr1357=)
10g.71802961A>CCA377160552CDH23c.7546A>C (p.Thr2516Pro)
c.1479A>C (n.1479A>C)
c.1143A>C (n.1143A>C)
c.7561A>C (p.Thr2521Pro)
c.826A>C (p.Thr276Pro)
n.1082A>C
c.7741A>C (p.Thr2581Pro)
c.7675A>C (p.Thr2559Pro)
c.7738A>C (p.Thr2580Pro)
c.7735A>C (p.Thr2579Pro)
c.7681A>C (p.Thr2561Pro)
c.7651A>C (p.Thr2551Pro)
c.7606A>C (p.Thr2536Pro)
c.7201A>C (p.Thr2401Pro)
c.6559A>C (p.Thr2187Pro)
c.4069A>C (p.Thr1357Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.71802961A>GCA377160554CDH23c.7546A>G (p.Thr2516Ala)
c.1479A>G (n.1479A>G)
c.1143A>G (n.1143A>G)
c.7561A>G (p.Thr2521Ala)
c.826A>G (p.Thr276Ala)
n.1082A>G
c.7741A>G (p.Thr2581Ala)
c.7675A>G (p.Thr2559Ala)
c.7738A>G (p.Thr2580Ala)
c.7735A>G (p.Thr2579Ala)
c.7681A>G (p.Thr2561Ala)
c.7651A>G (p.Thr2551Ala)
c.7606A>G (p.Thr2536Ala)
c.7201A>G (p.Thr2401Ala)
c.6559A>G (p.Thr2187Ala)
c.4069A>G (p.Thr1357Ala)
 dbSNP gnomAD v4
10g.71802961A>TCA377160555CDH23c.7546A>T (p.Thr2516Ser)
c.1479A>T (n.1479A>T)
c.1143A>T (n.1143A>T)
c.7561A>T (p.Thr2521Ser)
c.826A>T (p.Thr276Ser)
n.1082A>T
c.7741A>T (p.Thr2581Ser)
c.7675A>T (p.Thr2559Ser)
c.7738A>T (p.Thr2580Ser)
c.7735A>T (p.Thr2579Ser)
c.7681A>T (p.Thr2561Ser)
c.7651A>T (p.Thr2551Ser)
c.7606A>T (p.Thr2536Ser)
c.7201A>T (p.Thr2401Ser)
c.6559A>T (p.Thr2187Ser)
c.4069A>T (p.Thr1357Ser)
10g.71802962C>ACA377160558CDH23c.7547C>A (p.Thr2516Lys)
c.1480C>A (n.1480C>A)
c.1144C>A (n.1144C>A)
c.7562C>A (p.Thr2521Lys)
c.827C>A (p.Thr276Lys)
n.1083C>A
c.7742C>A (p.Thr2581Lys)
c.7676C>A (p.Thr2559Lys)
c.7739C>A (p.Thr2580Lys)
c.7736C>A (p.Thr2579Lys)
c.7682C>A (p.Thr2561Lys)
c.7652C>A (p.Thr2551Lys)
c.7607C>A (p.Thr2536Lys)
c.7202C>A (p.Thr2401Lys)
c.6560C>A (p.Thr2187Lys)
c.4070C>A (p.Thr1357Lys)
10g.71802962C>GCA377160559CDH23c.7547C>G (p.Thr2516Arg)
c.1480C>G (n.1480C>G)
c.1144C>G (n.1144C>G)
c.7562C>G (p.Thr2521Arg)
c.827C>G (p.Thr276Arg)
n.1083C>G
c.7742C>G (p.Thr2581Arg)
c.7676C>G (p.Thr2559Arg)
c.7739C>G (p.Thr2580Arg)
c.7736C>G (p.Thr2579Arg)
c.7682C>G (p.Thr2561Arg)
c.7652C>G (p.Thr2551Arg)
c.7607C>G (p.Thr2536Arg)
c.7202C>G (p.Thr2401Arg)
c.6560C>G (p.Thr2187Arg)
c.4070C>G (p.Thr1357Arg)
10g.71802962C>TCA377160560CDH23c.7547C>T (p.Thr2516Ile)
c.1480C>T (n.1480C>T)
c.1144C>T (n.1144C>T)
c.7562C>T (p.Thr2521Ile)
c.827C>T (p.Thr276Ile)
n.1083C>T
c.7742C>T (p.Thr2581Ile)
c.7676C>T (p.Thr2559Ile)
c.7739C>T (p.Thr2580Ile)
c.7736C>T (p.Thr2579Ile)
c.7682C>T (p.Thr2561Ile)
c.7652C>T (p.Thr2551Ile)
c.7607C>T (p.Thr2536Ile)
c.7202C>T (p.Thr2401Ile)
c.6560C>T (p.Thr2187Ile)
c.4070C>T (p.Thr1357Ile)
10g.71802963A>CCA470062473CDH23c.7548A>C (p.Thr2516=)
c.1481A>C (n.1481A>C)
c.1145A>C (n.1145A>C)
c.7563A>C (p.Thr2521=)
c.828A>C (p.Thr276=)
n.1084A>C
c.7743A>C (p.Thr2581=)
c.7677A>C (p.Thr2559=)
c.7740A>C (p.Thr2580=)
c.7737A>C (p.Thr2579=)
c.7683A>C (p.Thr2561=)
c.7653A>C (p.Thr2551=)
c.7608A>C (p.Thr2536=)
c.7203A>C (p.Thr2401=)
c.6561A>C (p.Thr2187=)
c.4071A>C (p.Thr1357=)
10g.71802963A>GCA470062474CDH23c.7548A>G (p.Thr2516=)
c.1481A>G (n.1481A>G)
c.1145A>G (n.1145A>G)
c.7563A>G (p.Thr2521=)
c.828A>G (p.Thr276=)
n.1084A>G
c.7743A>G (p.Thr2581=)
c.7677A>G (p.Thr2559=)
c.7740A>G (p.Thr2580=)
c.7737A>G (p.Thr2579=)
c.7683A>G (p.Thr2561=)
c.7653A>G (p.Thr2551=)
c.7608A>G (p.Thr2536=)
c.7203A>G (p.Thr2401=)
c.6561A>G (p.Thr2187=)
c.4071A>G (p.Thr1357=)
10g.71802963A>TCA470062475CDH23c.7548A>T (p.Thr2516=)
c.1481A>T (n.1481A>T)
c.1145A>T (n.1145A>T)
c.7563A>T (p.Thr2521=)
c.828A>T (p.Thr276=)
n.1084A>T
c.7743A>T (p.Thr2581=)
c.7677A>T (p.Thr2559=)
c.7740A>T (p.Thr2580=)
c.7737A>T (p.Thr2579=)
c.7683A>T (p.Thr2561=)
c.7653A>T (p.Thr2551=)
c.7608A>T (p.Thr2536=)
c.7203A>T (p.Thr2401=)
c.6561A>T (p.Thr2187=)
c.4071A>T (p.Thr1357=)
10g.71802964delCA470062476CDH23c.7549del (p.Ser2517AlafsTer15)
c.1482del (n.1482del)
c.1146del (n.1146del)
c.7564del (p.Ser2522AlafsTer15)
c.829del (p.Ser277AlafsTer15)
n.1085del
c.7744del (p.Ser2582AlafsTer15)
c.7678del (p.Ser2560AlafsTer15)
c.7741del (p.Ser2581AlafsTer15)
c.7738del (p.Ser2580AlafsTer15)
c.7684del (p.Ser2562AlafsTer15)
c.7654del (p.Ser2552AlafsTer15)
c.7609del (p.Ser2537AlafsTer15)
c.7204del (p.Ser2402AlafsTer15)
c.6562del (p.Ser2188AlafsTer15)
c.4072del (p.Ser1358AlafsTer15)
 COSMIC
10g.71802964A=CA1918880411CDH23c.7549A= (p.Ser2517=)
c.1482A= (n.1482A=)
c.1146A= (n.1146A=)
c.7564A= (p.Ser2522=)
c.829A= (p.Ser277=)
n.1085A=
c.7744A= (p.Ser2582=)
c.7678A= (p.Ser2560=)
c.7741A= (p.Ser2581=)
c.7738A= (p.Ser2580=)
c.7684A= (p.Ser2562=)
c.7654A= (p.Ser2552=)
c.7609A= (p.Ser2537=)
c.7204A= (p.Ser2402=)
c.6562A= (p.Ser2188=)
c.4072A= (p.Ser1358=)
10g.71802964A>CCA377160562CDH23c.7549A>C (p.Ser2517Arg)
c.1482A>C (n.1482A>C)
c.1146A>C (n.1146A>C)
c.7564A>C (p.Ser2522Arg)
c.829A>C (p.Ser277Arg)
n.1085A>C
c.7744A>C (p.Ser2582Arg)
c.7678A>C (p.Ser2560Arg)
c.7741A>C (p.Ser2581Arg)
c.7738A>C (p.Ser2580Arg)
c.7684A>C (p.Ser2562Arg)
c.7654A>C (p.Ser2552Arg)
c.7609A>C (p.Ser2537Arg)
c.7204A>C (p.Ser2402Arg)
c.6562A>C (p.Ser2188Arg)
c.4072A>C (p.Ser1358Arg)
10g.71802964A>GCA5546375CDH23c.7549A>G (p.Ser2517Gly)
c.1482A>G (n.1482A>G)
c.1146A>G (n.1146A>G)
c.7564A>G (p.Ser2522Gly)
c.829A>G (p.Ser277Gly)
n.1085A>G
c.7744A>G (p.Ser2582Gly)
c.7678A>G (p.Ser2560Gly)
c.7741A>G (p.Ser2581Gly)
c.7738A>G (p.Ser2580Gly)
c.7684A>G (p.Ser2562Gly)
c.7654A>G (p.Ser2552Gly)
c.7609A>G (p.Ser2537Gly)
c.7204A>G (p.Ser2402Gly)
c.6562A>G (p.Ser2188Gly)
c.4072A>G (p.Ser1358Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71802964A>TCA377160561CDH23c.7549A>T (p.Ser2517Cys)
c.1482A>T (n.1482A>T)
c.1146A>T (n.1146A>T)
c.7564A>T (p.Ser2522Cys)
c.829A>T (p.Ser277Cys)
n.1085A>T
c.7744A>T (p.Ser2582Cys)
c.7678A>T (p.Ser2560Cys)
c.7741A>T (p.Ser2581Cys)
c.7738A>T (p.Ser2580Cys)
c.7684A>T (p.Ser2562Cys)
c.7654A>T (p.Ser2552Cys)
c.7609A>T (p.Ser2537Cys)
c.7204A>T (p.Ser2402Cys)
c.6562A>T (p.Ser2188Cys)
c.4072A>T (p.Ser1358Cys)
10g.71802965G>ACA377160563CDH23c.7550G>A (p.Ser2517Asn)
c.1483G>A (n.1483G>A)
c.1147G>A (n.1147G>A)
c.7565G>A (p.Ser2522Asn)
c.830G>A (p.Ser277Asn)
n.1086G>A
c.7745G>A (p.Ser2582Asn)
c.7679G>A (p.Ser2560Asn)
c.7742G>A (p.Ser2581Asn)
c.7739G>A (p.Ser2580Asn)
c.7685G>A (p.Ser2562Asn)
c.7655G>A (p.Ser2552Asn)
c.7610G>A (p.Ser2537Asn)
c.7205G>A (p.Ser2402Asn)
c.6563G>A (p.Ser2188Asn)
c.4073G>A (p.Ser1358Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.71802965G>CCA377160565CDH23c.7550G>C (p.Ser2517Thr)
c.1483G>C (n.1483G>C)
c.1147G>C (n.1147G>C)
c.7565G>C (p.Ser2522Thr)
c.830G>C (p.Ser277Thr)
n.1086G>C
c.7745G>C (p.Ser2582Thr)
c.7679G>C (p.Ser2560Thr)
c.7742G>C (p.Ser2581Thr)
c.7739G>C (p.Ser2580Thr)
c.7685G>C (p.Ser2562Thr)
c.7655G>C (p.Ser2552Thr)
c.7610G>C (p.Ser2537Thr)
c.7205G>C (p.Ser2402Thr)
c.6563G>C (p.Ser2188Thr)
c.4073G>C (p.Ser1358Thr)
10g.71802965G=CA1918880412CDH23c.7550G= (p.Ser2517=)
c.1483G= (n.1483G=)
c.1147G= (n.1147G=)
c.7565G= (p.Ser2522=)
c.830G= (p.Ser277=)
n.1086G=
c.7745G= (p.Ser2582=)
c.7679G= (p.Ser2560=)
c.7742G= (p.Ser2581=)
c.7739G= (p.Ser2580=)
c.7685G= (p.Ser2562=)
c.7655G= (p.Ser2552=)
c.7610G= (p.Ser2537=)
c.7205G= (p.Ser2402=)
c.6563G= (p.Ser2188=)
c.4073G= (p.Ser1358=)
10g.71802965G>TCA377160572CDH23c.7550G>T (p.Ser2517Ile)
c.1483G>T (n.1483G>T)
c.1147G>T (n.1147G>T)
c.7565G>T (p.Ser2522Ile)
c.830G>T (p.Ser277Ile)
n.1086G>T
c.7745G>T (p.Ser2582Ile)
c.7679G>T (p.Ser2560Ile)
c.7742G>T (p.Ser2581Ile)
c.7739G>T (p.Ser2580Ile)
c.7685G>T (p.Ser2562Ile)
c.7655G>T (p.Ser2552Ile)
c.7610G>T (p.Ser2537Ile)
c.7205G>T (p.Ser2402Ile)
c.6563G>T (p.Ser2188Ile)
c.4073G>T (p.Ser1358Ile)
10g.71802966C>ACA377160574CDH23c.7551C>A (p.Ser2517Arg)
c.1484C>A (n.1484C>A)
c.1148C>A (n.1148C>A)
c.7566C>A (p.Ser2522Arg)
c.831C>A (p.Ser277Arg)
n.1087C>A
c.7746C>A (p.Ser2582Arg)
c.7680C>A (p.Ser2560Arg)
c.7743C>A (p.Ser2581Arg)
c.7740C>A (p.Ser2580Arg)
c.7686C>A (p.Ser2562Arg)
c.7656C>A (p.Ser2552Arg)
c.7611C>A (p.Ser2537Arg)
c.7206C>A (p.Ser2402Arg)
c.6564C>A (p.Ser2188Arg)
c.4074C>A (p.Ser1358Arg)
 ClinVar dbSNP
10g.71802966C=CA1918880413CDH23c.7551C= (p.Ser2517=)
c.1484C= (n.1484C=)
c.1148C= (n.1148C=)
c.7566C= (p.Ser2522=)
c.831C= (p.Ser277=)
n.1087C=
c.7746C= (p.Ser2582=)
c.7680C= (p.Ser2560=)
c.7743C= (p.Ser2581=)
c.7740C= (p.Ser2580=)
c.7686C= (p.Ser2562=)
c.7656C= (p.Ser2552=)
c.7611C= (p.Ser2537=)
c.7206C= (p.Ser2402=)
c.6564C= (p.Ser2188=)
c.4074C= (p.Ser1358=)
10g.71802966C>GCA377160575CDH23c.7551C>G (p.Ser2517Arg)
c.1484C>G (n.1484C>G)
c.1148C>G (n.1148C>G)
c.7566C>G (p.Ser2522Arg)
c.831C>G (p.Ser277Arg)
n.1087C>G
c.7746C>G (p.Ser2582Arg)
c.7680C>G (p.Ser2560Arg)
c.7743C>G (p.Ser2581Arg)
c.7740C>G (p.Ser2580Arg)
c.7686C>G (p.Ser2562Arg)
c.7656C>G (p.Ser2552Arg)
c.7611C>G (p.Ser2537Arg)
c.7206C>G (p.Ser2402Arg)
c.6564C>G (p.Ser2188Arg)
c.4074C>G (p.Ser1358Arg)
 gnomAD v4
10g.71802966C>TCA10628832CDH23c.7551C>T (p.Ser2517=)
c.1484C>T (n.1484C>T)
c.1148C>T (n.1148C>T)
c.7566C>T (p.Ser2522=)
c.831C>T (p.Ser277=)
n.1087C>T
c.7746C>T (p.Ser2582=)
c.7680C>T (p.Ser2560=)
c.7743C>T (p.Ser2581=)
c.7740C>T (p.Ser2580=)
c.7686C>T (p.Ser2562=)
c.7656C>T (p.Ser2552=)
c.7611C>T (p.Ser2537=)
c.7206C>T (p.Ser2402=)
c.6564C>T (p.Ser2188=)
c.4074C>T (p.Ser1358=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71802967G>ACA175519CDH23c.7552G>A (p.Val2518Met)
c.1485G>A (n.1485G>A)
c.1149G>A (n.1149G>A)
c.7567G>A (p.Val2523Met)
c.832G>A (p.Val278Met)
n.1088G>A
c.7747G>A (p.Val2583Met)
c.7681G>A (p.Val2561Met)
c.7744G>A (p.Val2582Met)
c.7741G>A (p.Val2581Met)
c.7687G>A (p.Val2563Met)
c.7657G>A (p.Val2553Met)
c.7612G>A (p.Val2538Met)
c.7207G>A (p.Val2403Met)
c.6565G>A (p.Val2189Met)
c.4075G>A (p.Val1359Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802967G>CCA377160577CDH23c.7552G>C (p.Val2518Leu)
c.1485G>C (n.1485G>C)
c.1149G>C (n.1149G>C)
c.7567G>C (p.Val2523Leu)
c.832G>C (p.Val278Leu)
n.1088G>C
c.7747G>C (p.Val2583Leu)
c.7681G>C (p.Val2561Leu)
c.7744G>C (p.Val2582Leu)
c.7741G>C (p.Val2581Leu)
c.7687G>C (p.Val2563Leu)
c.7657G>C (p.Val2553Leu)
c.7612G>C (p.Val2538Leu)
c.7207G>C (p.Val2403Leu)
c.6565G>C (p.Val2189Leu)
c.4075G>C (p.Val1359Leu)
10g.71802967G=CA1918880414CDH23c.7552G= (p.Val2518=)
c.1485G= (n.1485G=)
c.1149G= (n.1149G=)
c.7567G= (p.Val2523=)
c.832G= (p.Val278=)
n.1088G=
c.7747G= (p.Val2583=)
c.7681G= (p.Val2561=)
c.7744G= (p.Val2582=)
c.7741G= (p.Val2581=)
c.7687G= (p.Val2563=)
c.7657G= (p.Val2553=)
c.7612G= (p.Val2538=)
c.7207G= (p.Val2403=)
c.6565G= (p.Val2189=)
c.4075G= (p.Val1359=)
10g.71802967G>TCA377160578CDH23c.7552G>T (p.Val2518Leu)
c.1485G>T (n.1485G>T)
c.1149G>T (n.1149G>T)
c.7567G>T (p.Val2523Leu)
c.832G>T (p.Val278Leu)
n.1088G>T
c.7747G>T (p.Val2583Leu)
c.7681G>T (p.Val2561Leu)
c.7744G>T (p.Val2582Leu)
c.7741G>T (p.Val2581Leu)
c.7687G>T (p.Val2563Leu)
c.7657G>T (p.Val2553Leu)
c.7612G>T (p.Val2538Leu)
c.7207G>T (p.Val2403Leu)
c.6565G>T (p.Val2189Leu)
c.4075G>T (p.Val1359Leu)
10g.71802968T>ACA377160581CDH23c.7553T>A (p.Val2518Glu)
c.1486T>A (n.1486T>A)
c.1150T>A (n.1150T>A)
c.7568T>A (p.Val2523Glu)
c.833T>A (p.Val278Glu)
n.1089T>A
c.7748T>A (p.Val2583Glu)
c.7682T>A (p.Val2561Glu)
c.7745T>A (p.Val2582Glu)
c.7742T>A (p.Val2581Glu)
c.7688T>A (p.Val2563Glu)
c.7658T>A (p.Val2553Glu)
c.7613T>A (p.Val2538Glu)
c.7208T>A (p.Val2403Glu)
c.6566T>A (p.Val2189Glu)
c.4076T>A (p.Val1359Glu)
10g.71802968T>CCA377160582CDH23c.7553T>C (p.Val2518Ala)
c.1486T>C (n.1486T>C)
c.1150T>C (n.1150T>C)
c.7568T>C (p.Val2523Ala)
c.833T>C (p.Val278Ala)
n.1089T>C
c.7748T>C (p.Val2583Ala)
c.7682T>C (p.Val2561Ala)
c.7745T>C (p.Val2582Ala)
c.7742T>C (p.Val2581Ala)
c.7688T>C (p.Val2563Ala)
c.7658T>C (p.Val2553Ala)
c.7613T>C (p.Val2538Ala)
c.7208T>C (p.Val2403Ala)
c.6566T>C (p.Val2189Ala)
c.4076T>C (p.Val1359Ala)
10g.71802968T>GCA377160584CDH23c.7553T>G (p.Val2518Gly)
c.1486T>G (n.1486T>G)
c.1150T>G (n.1150T>G)
c.7568T>G (p.Val2523Gly)
c.833T>G (p.Val278Gly)
n.1089T>G
c.7748T>G (p.Val2583Gly)
c.7682T>G (p.Val2561Gly)
c.7745T>G (p.Val2582Gly)
c.7742T>G (p.Val2581Gly)
c.7688T>G (p.Val2563Gly)
c.7658T>G (p.Val2553Gly)
c.7613T>G (p.Val2538Gly)
c.7208T>G (p.Val2403Gly)
c.6566T>G (p.Val2189Gly)
c.4076T>G (p.Val1359Gly)
10g.71802969G>ACA470062477CDH23c.7554G>A (p.Val2518=)
c.1487G>A (n.1487G>A)
c.1151G>A (n.1151G>A)
c.7569G>A (p.Val2523=)
c.834G>A (p.Val278=)
n.1090G>A
c.7749G>A (p.Val2583=)
c.7683G>A (p.Val2561=)
c.7746G>A (p.Val2582=)
c.7743G>A (p.Val2581=)
c.7689G>A (p.Val2563=)
c.7659G>A (p.Val2553=)
c.7614G>A (p.Val2538=)
c.7209G>A (p.Val2403=)
c.6567G>A (p.Val2189=)
c.4077G>A (p.Val1359=)
 gnomAD v4
10g.71802969G>CCA470062479CDH23c.7554G>C (p.Val2518=)
c.1487G>C (n.1487G>C)
c.1151G>C (n.1151G>C)
c.7569G>C (p.Val2523=)
c.834G>C (p.Val278=)
n.1090G>C
c.7749G>C (p.Val2583=)
c.7683G>C (p.Val2561=)
c.7746G>C (p.Val2582=)
c.7743G>C (p.Val2581=)
c.7689G>C (p.Val2563=)
c.7659G>C (p.Val2553=)
c.7614G>C (p.Val2538=)
c.7209G>C (p.Val2403=)
c.6567G>C (p.Val2189=)
c.4077G>C (p.Val1359=)
 gnomAD v4
10g.71802969G>TCA470062478CDH23c.7554G>T (p.Val2518=)
c.1487G>T (n.1487G>T)
c.1151G>T (n.1151G>T)
c.7569G>T (p.Val2523=)
c.834G>T (p.Val278=)
n.1090G>T
c.7749G>T (p.Val2583=)
c.7683G>T (p.Val2561=)
c.7746G>T (p.Val2582=)
c.7743G>T (p.Val2581=)
c.7689G>T (p.Val2563=)
c.7659G>T (p.Val2553=)
c.7614G>T (p.Val2538=)
c.7209G>T (p.Val2403=)
c.6567G>T (p.Val2189=)
c.4077G>T (p.Val1359=)
 ClinVar
10g.71802970T>ACA377160585CDH23c.7555T>A (p.Tyr2519Asn)
c.1488T>A (n.1488T>A)
c.1152T>A (n.1152T>A)
c.7570T>A (p.Tyr2524Asn)
c.835T>A (p.Tyr279Asn)
n.1091T>A
c.7750T>A (p.Tyr2584Asn)
c.7684T>A (p.Tyr2562Asn)
c.7747T>A (p.Tyr2583Asn)
c.7744T>A (p.Tyr2582Asn)
c.7690T>A (p.Tyr2564Asn)
c.7660T>A (p.Tyr2554Asn)
c.7615T>A (p.Tyr2539Asn)
c.7210T>A (p.Tyr2404Asn)
c.6568T>A (p.Tyr2190Asn)
c.4078T>A (p.Tyr1360Asn)
10g.71802970T>CCA377160588CDH23c.7555T>C (p.Tyr2519His)
c.1488T>C (n.1488T>C)
c.1152T>C (n.1152T>C)
c.7570T>C (p.Tyr2524His)
c.835T>C (p.Tyr279His)
n.1091T>C
c.7750T>C (p.Tyr2584His)
c.7684T>C (p.Tyr2562His)
c.7747T>C (p.Tyr2583His)
c.7744T>C (p.Tyr2582His)
c.7690T>C (p.Tyr2564His)
c.7660T>C (p.Tyr2554His)
c.7615T>C (p.Tyr2539His)
c.7210T>C (p.Tyr2404His)
c.6568T>C (p.Tyr2190His)
c.4078T>C (p.Tyr1360His)
 gnomAD v4
10g.71802970T>GCA377160586CDH23c.7555T>G (p.Tyr2519Asp)
c.1488T>G (n.1488T>G)
c.1152T>G (n.1152T>G)
c.7570T>G (p.Tyr2524Asp)
c.835T>G (p.Tyr279Asp)
n.1091T>G
c.7750T>G (p.Tyr2584Asp)
c.7684T>G (p.Tyr2562Asp)
c.7747T>G (p.Tyr2583Asp)
c.7744T>G (p.Tyr2582Asp)
c.7690T>G (p.Tyr2564Asp)
c.7660T>G (p.Tyr2554Asp)
c.7615T>G (p.Tyr2539Asp)
c.7210T>G (p.Tyr2404Asp)
c.6568T>G (p.Tyr2190Asp)
c.4078T>G (p.Tyr1360Asp)
10g.71802971A>CCA377160590CDH23c.7556A>C (p.Tyr2519Ser)
c.1489A>C (n.1489A>C)
c.1153A>C (n.1153A>C)
c.7571A>C (p.Tyr2524Ser)
c.836A>C (p.Tyr279Ser)
n.1092A>C
c.7751A>C (p.Tyr2584Ser)
c.7685A>C (p.Tyr2562Ser)
c.7748A>C (p.Tyr2583Ser)
c.7745A>C (p.Tyr2582Ser)
c.7691A>C (p.Tyr2564Ser)
c.7661A>C (p.Tyr2554Ser)
c.7616A>C (p.Tyr2539Ser)
c.7211A>C (p.Tyr2404Ser)
c.6569A>C (p.Tyr2190Ser)
c.4079A>C (p.Tyr1360Ser)
10g.71802971A>GCA377160592CDH23c.7556A>G (p.Tyr2519Cys)
c.1489A>G (n.1489A>G)
c.1153A>G (n.1153A>G)
c.7571A>G (p.Tyr2524Cys)
c.836A>G (p.Tyr279Cys)
n.1092A>G
c.7751A>G (p.Tyr2584Cys)
c.7685A>G (p.Tyr2562Cys)
c.7748A>G (p.Tyr2583Cys)
c.7745A>G (p.Tyr2582Cys)
c.7691A>G (p.Tyr2564Cys)
c.7661A>G (p.Tyr2554Cys)
c.7616A>G (p.Tyr2539Cys)
c.7211A>G (p.Tyr2404Cys)
c.6569A>G (p.Tyr2190Cys)
c.4079A>G (p.Tyr1360Cys)
10g.71802971A>TCA377160594CDH23c.7556A>T (p.Tyr2519Phe)
c.1489A>T (n.1489A>T)
c.1153A>T (n.1153A>T)
c.7571A>T (p.Tyr2524Phe)
c.836A>T (p.Tyr279Phe)
n.1092A>T
c.7751A>T (p.Tyr2584Phe)
c.7685A>T (p.Tyr2562Phe)
c.7748A>T (p.Tyr2583Phe)
c.7745A>T (p.Tyr2582Phe)
c.7691A>T (p.Tyr2564Phe)
c.7661A>T (p.Tyr2554Phe)
c.7616A>T (p.Tyr2539Phe)
c.7211A>T (p.Tyr2404Phe)
c.6569A>T (p.Tyr2190Phe)
c.4079A>T (p.Tyr1360Phe)
10g.71802972T>ACA377160596CDH23c.7557T>A (p.Tyr2519Ter)
c.1490T>A (n.1490T>A)
c.1154T>A (n.1154T>A)
c.7572T>A (p.Tyr2524Ter)
c.837T>A (p.Tyr279Ter)
n.1093T>A
c.7752T>A (p.Tyr2584Ter)
c.7686T>A (p.Tyr2562Ter)
c.7749T>A (p.Tyr2583Ter)
c.7746T>A (p.Tyr2582Ter)
c.7692T>A (p.Tyr2564Ter)
c.7662T>A (p.Tyr2554Ter)
c.7617T>A (p.Tyr2539Ter)
c.7212T>A (p.Tyr2404Ter)
c.6570T>A (p.Tyr2190Ter)
c.4080T>A (p.Tyr1360Ter)
10g.71802972T>CCA470062480CDH23c.7557T>C (p.Tyr2519=)
c.1490T>C (n.1490T>C)
c.1154T>C (n.1154T>C)
c.7572T>C (p.Tyr2524=)
c.837T>C (p.Tyr279=)
n.1093T>C
c.7752T>C (p.Tyr2584=)
c.7686T>C (p.Tyr2562=)
c.7749T>C (p.Tyr2583=)
c.7746T>C (p.Tyr2582=)
c.7692T>C (p.Tyr2564=)
c.7662T>C (p.Tyr2554=)
c.7617T>C (p.Tyr2539=)
c.7212T>C (p.Tyr2404=)
c.6570T>C (p.Tyr2190=)
c.4080T>C (p.Tyr1360=)
 ClinVar dbSNP gnomAD v4
10g.71802972T>GCA377160598CDH23c.7557T>G (p.Tyr2519Ter)
c.1490T>G (n.1490T>G)
c.1154T>G (n.1154T>G)
c.7572T>G (p.Tyr2524Ter)
c.837T>G (p.Tyr279Ter)
n.1093T>G
c.7752T>G (p.Tyr2584Ter)
c.7686T>G (p.Tyr2562Ter)
c.7749T>G (p.Tyr2583Ter)
c.7746T>G (p.Tyr2582Ter)
c.7692T>G (p.Tyr2564Ter)
c.7662T>G (p.Tyr2554Ter)
c.7617T>G (p.Tyr2539Ter)
c.7212T>G (p.Tyr2404Ter)
c.6570T>G (p.Tyr2190Ter)
c.4080T>G (p.Tyr1360Ter)
 ClinVar
10g.71802973G>ACA377160600CDH23c.7558G>A (p.Glu2520Lys)
c.1491G>A (n.1491G>A)
c.1155G>A (n.1155G>A)
c.7573G>A (p.Glu2525Lys)
c.838G>A (p.Glu280Lys)
n.1094G>A
c.7753G>A (p.Glu2585Lys)
c.7687G>A (p.Glu2563Lys)
c.7750G>A (p.Glu2584Lys)
c.7747G>A (p.Glu2583Lys)
c.7693G>A (p.Glu2565Lys)
c.7663G>A (p.Glu2555Lys)
c.7618G>A (p.Glu2540Lys)
c.7213G>A (p.Glu2405Lys)
c.6571G>A (p.Glu2191Lys)
c.4081G>A (p.Glu1361Lys)
 ClinVar dbSNP gnomAD v4
10g.71802973G>CCA377160602CDH23c.7558G>C (p.Glu2520Gln)
c.1491G>C (n.1491G>C)
c.1155G>C (n.1155G>C)
c.7573G>C (p.Glu2525Gln)
c.838G>C (p.Glu280Gln)
n.1094G>C
c.7753G>C (p.Glu2585Gln)
c.7687G>C (p.Glu2563Gln)
c.7750G>C (p.Glu2584Gln)
c.7747G>C (p.Glu2583Gln)
c.7693G>C (p.Glu2565Gln)
c.7663G>C (p.Glu2555Gln)
c.7618G>C (p.Glu2540Gln)
c.7213G>C (p.Glu2405Gln)
c.6571G>C (p.Glu2191Gln)
c.4081G>C (p.Glu1361Gln)
10g.71802973G=CA1918880415CDH23c.7558G= (p.Glu2520=)
c.1491G= (n.1491G=)
c.1155G= (n.1155G=)
c.7573G= (p.Glu2525=)
c.838G= (p.Glu280=)
n.1094G=
c.7753G= (p.Glu2585=)
c.7687G= (p.Glu2563=)
c.7750G= (p.Glu2584=)
c.7747G= (p.Glu2583=)
c.7693G= (p.Glu2565=)
c.7663G= (p.Glu2555=)
c.7618G= (p.Glu2540=)
c.7213G= (p.Glu2405=)
c.6571G= (p.Glu2191=)
c.4081G= (p.Glu1361=)
10g.71802973G>TCA377160603CDH23c.7558G>T (p.Glu2520Ter)
c.1491G>T (n.1491G>T)
c.1155G>T (n.1155G>T)
c.7573G>T (p.Glu2525Ter)
c.838G>T (p.Glu280Ter)
n.1094G>T
c.7753G>T (p.Glu2585Ter)
c.7687G>T (p.Glu2563Ter)
c.7750G>T (p.Glu2584Ter)
c.7747G>T (p.Glu2583Ter)
c.7693G>T (p.Glu2565Ter)
c.7663G>T (p.Glu2555Ter)
c.7618G>T (p.Glu2540Ter)
c.7213G>T (p.Glu2405Ter)
c.6571G>T (p.Glu2191Ter)
c.4081G>T (p.Glu1361Ter)
10g.71802974A>CCA377160606CDH23c.7559A>C (p.Glu2520Ala)
c.1492A>C (n.1492A>C)
c.1156A>C (n.1156A>C)
c.7574A>C (p.Glu2525Ala)
c.839A>C (p.Glu280Ala)
n.1095A>C
c.7754A>C (p.Glu2585Ala)
c.7688A>C (p.Glu2563Ala)
c.7751A>C (p.Glu2584Ala)
c.7748A>C (p.Glu2583Ala)
c.7694A>C (p.Glu2565Ala)
c.7664A>C (p.Glu2555Ala)
c.7619A>C (p.Glu2540Ala)
c.7214A>C (p.Glu2405Ala)
c.6572A>C (p.Glu2191Ala)
c.4082A>C (p.Glu1361Ala)
10g.71802974A>GCA377160607CDH23c.7559A>G (p.Glu2520Gly)
c.1492A>G (n.1492A>G)
c.1156A>G (n.1156A>G)
c.7574A>G (p.Glu2525Gly)
c.839A>G (p.Glu280Gly)
n.1095A>G
c.7754A>G (p.Glu2585Gly)
c.7688A>G (p.Glu2563Gly)
c.7751A>G (p.Glu2584Gly)
c.7748A>G (p.Glu2583Gly)
c.7694A>G (p.Glu2565Gly)
c.7664A>G (p.Glu2555Gly)
c.7619A>G (p.Glu2540Gly)
c.7214A>G (p.Glu2405Gly)
c.6572A>G (p.Glu2191Gly)
c.4082A>G (p.Glu1361Gly)
10g.71802974A>TCA377160609CDH23c.7559A>T (p.Glu2520Val)
c.1492A>T (n.1492A>T)
c.1156A>T (n.1156A>T)
c.7574A>T (p.Glu2525Val)
c.839A>T (p.Glu280Val)
n.1095A>T
c.7754A>T (p.Glu2585Val)
c.7688A>T (p.Glu2563Val)
c.7751A>T (p.Glu2584Val)
c.7748A>T (p.Glu2583Val)
c.7694A>T (p.Glu2565Val)
c.7664A>T (p.Glu2555Val)
c.7619A>T (p.Glu2540Val)
c.7214A>T (p.Glu2405Val)
c.6572A>T (p.Glu2191Val)
c.4082A>T (p.Glu1361Val)
10g.71802974dupCA2580081893CDH23c.7559dup (p.Asn2521GlufsTer2)
c.1492dup (n.1492dup)
c.1156dup (n.1156dup)
c.7574dup (p.Asn2526GlufsTer2)
c.839dup (p.Asn281GlufsTer2)
n.1095dup
c.7754dup (p.Asn2586GlufsTer2)
c.7688dup (p.Asn2564GlufsTer2)
c.7751dup (p.Asn2585GlufsTer2)
c.7748dup (p.Asn2584GlufsTer2)
c.7694dup (p.Asn2566GlufsTer2)
c.7664dup (p.Asn2556GlufsTer2)
c.7619dup (p.Asn2541GlufsTer2)
c.7214dup (p.Asn2406GlufsTer2)
c.6572dup (p.Asn2192GlufsTer2)
c.4082dup (p.Asn1362GlufsTer2)
 ClinVar gnomAD v4
10g.71802975G>ACA470062481CDH23c.7560G>A (p.Glu2520=)
c.1493G>A (n.1493G>A)
c.1157G>A (n.1157G>A)
c.7575G>A (p.Glu2525=)
c.840G>A (p.Glu280=)
n.1096G>A
c.7755G>A (p.Glu2585=)
c.7689G>A (p.Glu2563=)
c.7752G>A (p.Glu2584=)
c.7749G>A (p.Glu2583=)
c.7695G>A (p.Glu2565=)
c.7665G>A (p.Glu2555=)
c.7620G>A (p.Glu2540=)
c.7215G>A (p.Glu2405=)
c.6573G>A (p.Glu2191=)
c.4083G>A (p.Glu1361=)
10g.71802975G>CCA377160610CDH23c.7560G>C (p.Glu2520Asp)
c.1493G>C (n.1493G>C)
c.1157G>C (n.1157G>C)
c.7575G>C (p.Glu2525Asp)
c.840G>C (p.Glu280Asp)
n.1096G>C
c.7755G>C (p.Glu2585Asp)
c.7689G>C (p.Glu2563Asp)
c.7752G>C (p.Glu2584Asp)
c.7749G>C (p.Glu2583Asp)
c.7695G>C (p.Glu2565Asp)
c.7665G>C (p.Glu2555Asp)
c.7620G>C (p.Glu2540Asp)
c.7215G>C (p.Glu2405Asp)
c.6573G>C (p.Glu2191Asp)
c.4083G>C (p.Glu1361Asp)
10g.71802975G>TCA377160612CDH23c.7560G>T (p.Glu2520Asp)
c.1493G>T (n.1493G>T)
c.1157G>T (n.1157G>T)
c.7575G>T (p.Glu2525Asp)
c.840G>T (p.Glu280Asp)
n.1096G>T
c.7755G>T (p.Glu2585Asp)
c.7689G>T (p.Glu2563Asp)
c.7752G>T (p.Glu2584Asp)
c.7749G>T (p.Glu2583Asp)
c.7695G>T (p.Glu2565Asp)
c.7665G>T (p.Glu2555Asp)
c.7620G>T (p.Glu2540Asp)
c.7215G>T (p.Glu2405Asp)
c.6573G>T (p.Glu2191Asp)
c.4083G>T (p.Glu1361Asp)
10g.71802976A>CCA377160618CDH23c.7561A>C (p.Asn2521His)
c.1494A>C (n.1494A>C)
c.1158A>C (n.1158A>C)
c.7576A>C (p.Asn2526His)
c.841A>C (p.Asn281His)
n.1097A>C
c.7756A>C (p.Asn2586His)
c.7690A>C (p.Asn2564His)
c.7753A>C (p.Asn2585His)
c.7750A>C (p.Asn2584His)
c.7696A>C (p.Asn2566His)
c.7666A>C (p.Asn2556His)
c.7621A>C (p.Asn2541His)
c.7216A>C (p.Asn2406His)
c.6574A>C (p.Asn2192His)
c.4084A>C (p.Asn1362His)
10g.71802976A>GCA377160616CDH23c.7561A>G (p.Asn2521Asp)
c.1494A>G (n.1494A>G)
c.1158A>G (n.1158A>G)
c.7576A>G (p.Asn2526Asp)
c.841A>G (p.Asn281Asp)
n.1097A>G
c.7756A>G (p.Asn2586Asp)
c.7690A>G (p.Asn2564Asp)
c.7753A>G (p.Asn2585Asp)
c.7750A>G (p.Asn2584Asp)
c.7696A>G (p.Asn2566Asp)
c.7666A>G (p.Asn2556Asp)
c.7621A>G (p.Asn2541Asp)
c.7216A>G (p.Asn2406Asp)
c.6574A>G (p.Asn2192Asp)
c.4084A>G (p.Asn1362Asp)
10g.71802976A>TCA377160614CDH23c.7561A>T (p.Asn2521Tyr)
c.1494A>T (n.1494A>T)
c.1158A>T (n.1158A>T)
c.7576A>T (p.Asn2526Tyr)
c.841A>T (p.Asn281Tyr)
n.1097A>T
c.7756A>T (p.Asn2586Tyr)
c.7690A>T (p.Asn2564Tyr)
c.7753A>T (p.Asn2585Tyr)
c.7750A>T (p.Asn2584Tyr)
c.7696A>T (p.Asn2566Tyr)
c.7666A>T (p.Asn2556Tyr)
c.7621A>T (p.Asn2541Tyr)
c.7216A>T (p.Asn2406Tyr)
c.6574A>T (p.Asn2192Tyr)
c.4084A>T (p.Asn1362Tyr)
10g.71802977A>CCA377160620CDH23c.7562A>C (p.Asn2521Thr)
c.1495A>C (n.1495A>C)
c.1159A>C (n.1159A>C)
c.7577A>C (p.Asn2526Thr)
c.842A>C (p.Asn281Thr)
n.1098A>C
c.7757A>C (p.Asn2586Thr)
c.7691A>C (p.Asn2564Thr)
c.7754A>C (p.Asn2585Thr)
c.7751A>C (p.Asn2584Thr)
c.7697A>C (p.Asn2566Thr)
c.7667A>C (p.Asn2556Thr)
c.7622A>C (p.Asn2541Thr)
c.7217A>C (p.Asn2406Thr)
c.6575A>C (p.Asn2192Thr)
c.4085A>C (p.Asn1362Thr)
10g.71802977A>GCA377160623CDH23c.7562A>G (p.Asn2521Ser)
c.1495A>G (n.1495A>G)
c.1159A>G (n.1159A>G)
c.7577A>G (p.Asn2526Ser)
c.842A>G (p.Asn281Ser)
n.1098A>G
c.7757A>G (p.Asn2586Ser)
c.7691A>G (p.Asn2564Ser)
c.7754A>G (p.Asn2585Ser)
c.7751A>G (p.Asn2584Ser)
c.7697A>G (p.Asn2566Ser)
c.7667A>G (p.Asn2556Ser)
c.7622A>G (p.Asn2541Ser)
c.7217A>G (p.Asn2406Ser)
c.6575A>G (p.Asn2192Ser)
c.4085A>G (p.Asn1362Ser)
10g.71802977A>TCA377160625CDH23c.7562A>T (p.Asn2521Ile)
c.1495A>T (n.1495A>T)
c.1159A>T (n.1159A>T)
c.7577A>T (p.Asn2526Ile)
c.842A>T (p.Asn281Ile)
n.1098A>T
c.7757A>T (p.Asn2586Ile)
c.7691A>T (p.Asn2564Ile)
c.7754A>T (p.Asn2585Ile)
c.7751A>T (p.Asn2584Ile)
c.7697A>T (p.Asn2566Ile)
c.7667A>T (p.Asn2556Ile)
c.7622A>T (p.Asn2541Ile)
c.7217A>T (p.Asn2406Ile)
c.6575A>T (p.Asn2192Ile)
c.4085A>T (p.Asn1362Ile)
10g.71802978T>ACA377160627CDH23c.7563T>A (p.Asn2521Lys)
c.1496T>A (n.1496T>A)
c.1160T>A (n.1160T>A)
c.7578T>A (p.Asn2526Lys)
c.843T>A (p.Asn281Lys)
n.1099T>A
c.7758T>A (p.Asn2586Lys)
c.7692T>A (p.Asn2564Lys)
c.7755T>A (p.Asn2585Lys)
c.7752T>A (p.Asn2584Lys)
c.7698T>A (p.Asn2566Lys)
c.7668T>A (p.Asn2556Lys)
c.7623T>A (p.Asn2541Lys)
c.7218T>A (p.Asn2406Lys)
c.6576T>A (p.Asn2192Lys)
c.4086T>A (p.Asn1362Lys)
10g.71802978T>CCA470062482CDH23c.7563T>C (p.Asn2521=)
c.1496T>C (n.1496T>C)
c.1160T>C (n.1160T>C)
c.7578T>C (p.Asn2526=)
c.843T>C (p.Asn281=)
n.1099T>C
c.7758T>C (p.Asn2586=)
c.7692T>C (p.Asn2564=)
c.7755T>C (p.Asn2585=)
c.7752T>C (p.Asn2584=)
c.7698T>C (p.Asn2566=)
c.7668T>C (p.Asn2556=)
c.7623T>C (p.Asn2541=)
c.7218T>C (p.Asn2406=)
c.6576T>C (p.Asn2192=)
c.4086T>C (p.Asn1362=)
10g.71802978T>GCA377160629CDH23c.7563T>G (p.Asn2521Lys)
c.1496T>G (n.1496T>G)
c.1160T>G (n.1160T>G)
c.7578T>G (p.Asn2526Lys)
c.843T>G (p.Asn281Lys)
n.1099T>G
c.7758T>G (p.Asn2586Lys)
c.7692T>G (p.Asn2564Lys)
c.7755T>G (p.Asn2585Lys)
c.7752T>G (p.Asn2584Lys)
c.7698T>G (p.Asn2566Lys)
c.7668T>G (p.Asn2556Lys)
c.7623T>G (p.Asn2541Lys)
c.7218T>G (p.Asn2406Lys)
c.6576T>G (p.Asn2192Lys)
c.4086T>G (p.Asn1362Lys)
10g.71802979G>ACA377160632CDH23c.7564G>A (p.Glu2522Lys)
c.1497G>A (n.1497G>A)
c.1161G>A (n.1161G>A)
c.7579G>A (p.Glu2527Lys)
c.844G>A (p.Glu282Lys)
n.1100G>A
c.7759G>A (p.Glu2587Lys)
c.7693G>A (p.Glu2565Lys)
c.7756G>A (p.Glu2586Lys)
c.7753G>A (p.Glu2585Lys)
c.7699G>A (p.Glu2567Lys)
c.7669G>A (p.Glu2557Lys)
c.7624G>A (p.Glu2542Lys)
c.7219G>A (p.Glu2407Lys)
c.6577G>A (p.Glu2193Lys)
c.4087G>A (p.Glu1363Lys)
10g.71802979G>CCA377160634CDH23c.7564G>C (p.Glu2522Gln)
c.1497G>C (n.1497G>C)
c.1161G>C (n.1161G>C)
c.7579G>C (p.Glu2527Gln)
c.844G>C (p.Glu282Gln)
n.1100G>C
c.7759G>C (p.Glu2587Gln)
c.7693G>C (p.Glu2565Gln)
c.7756G>C (p.Glu2586Gln)
c.7753G>C (p.Glu2585Gln)
c.7699G>C (p.Glu2567Gln)
c.7669G>C (p.Glu2557Gln)
c.7624G>C (p.Glu2542Gln)
c.7219G>C (p.Glu2407Gln)
c.6577G>C (p.Glu2193Gln)
c.4087G>C (p.Glu1363Gln)
10g.71802979G>TCA377160636CDH23c.7564G>T (p.Glu2522Ter)
c.1497G>T (n.1497G>T)
c.1161G>T (n.1161G>T)
c.7579G>T (p.Glu2527Ter)
c.844G>T (p.Glu282Ter)
n.1100G>T
c.7759G>T (p.Glu2587Ter)
c.7693G>T (p.Glu2565Ter)
c.7756G>T (p.Glu2586Ter)
c.7753G>T (p.Glu2585Ter)
c.7699G>T (p.Glu2567Ter)
c.7669G>T (p.Glu2557Ter)
c.7624G>T (p.Glu2542Ter)
c.7219G>T (p.Glu2407Ter)
c.6577G>T (p.Glu2193Ter)
c.4087G>T (p.Glu1363Ter)
10g.71802980A>CCA377160638CDH23c.7565A>C (p.Glu2522Ala)
c.1498A>C (n.1498A>C)
c.1162A>C (n.1162A>C)
c.7580A>C (p.Glu2527Ala)
c.845A>C (p.Glu282Ala)
n.1101A>C
c.7760A>C (p.Glu2587Ala)
c.7694A>C (p.Glu2565Ala)
c.7757A>C (p.Glu2586Ala)
c.7754A>C (p.Glu2585Ala)
c.7700A>C (p.Glu2567Ala)
c.7670A>C (p.Glu2557Ala)
c.7625A>C (p.Glu2542Ala)
c.7220A>C (p.Glu2407Ala)
c.6578A>C (p.Glu2193Ala)
c.4088A>C (p.Glu1363Ala)
10g.71802980A>GCA377160640CDH23c.7565A>G (p.Glu2522Gly)
c.1498A>G (n.1498A>G)
c.1162A>G (n.1162A>G)
c.7580A>G (p.Glu2527Gly)
c.845A>G (p.Glu282Gly)
n.1101A>G
c.7760A>G (p.Glu2587Gly)
c.7694A>G (p.Glu2565Gly)
c.7757A>G (p.Glu2586Gly)
c.7754A>G (p.Glu2585Gly)
c.7700A>G (p.Glu2567Gly)
c.7670A>G (p.Glu2557Gly)
c.7625A>G (p.Glu2542Gly)
c.7220A>G (p.Glu2407Gly)
c.6578A>G (p.Glu2193Gly)
c.4088A>G (p.Glu1363Gly)
10g.71802980A>TCA377160642CDH23c.7565A>T (p.Glu2522Val)
c.1498A>T (n.1498A>T)
c.1162A>T (n.1162A>T)
c.7580A>T (p.Glu2527Val)
c.845A>T (p.Glu282Val)
n.1101A>T
c.7760A>T (p.Glu2587Val)
c.7694A>T (p.Glu2565Val)
c.7757A>T (p.Glu2586Val)
c.7754A>T (p.Glu2585Val)
c.7700A>T (p.Glu2567Val)
c.7670A>T (p.Glu2557Val)
c.7625A>T (p.Glu2542Val)
c.7220A>T (p.Glu2407Val)
c.6578A>T (p.Glu2193Val)
c.4088A>T (p.Glu1363Val)
10g.71802981G>ACA470062483CDH23c.7566G>A (p.Glu2522=)
c.1499G>A (n.1499G>A)
c.1163G>A (n.1163G>A)
c.7581G>A (p.Glu2527=)
c.846G>A (p.Glu282=)
n.1102G>A
c.7761G>A (p.Glu2587=)
c.7695G>A (p.Glu2565=)
c.7758G>A (p.Glu2586=)
c.7755G>A (p.Glu2585=)
c.7701G>A (p.Glu2567=)
c.7671G>A (p.Glu2557=)
c.7626G>A (p.Glu2542=)
c.7221G>A (p.Glu2407=)
c.6579G>A (p.Glu2193=)
c.4089G>A (p.Glu1363=)
10g.71802981G>CCA377160645CDH23c.7566G>C (p.Glu2522Asp)
c.1499G>C (n.1499G>C)
c.1163G>C (n.1163G>C)
c.7581G>C (p.Glu2527Asp)
c.846G>C (p.Glu282Asp)
n.1102G>C
c.7761G>C (p.Glu2587Asp)
c.7695G>C (p.Glu2565Asp)
c.7758G>C (p.Glu2586Asp)
c.7755G>C (p.Glu2585Asp)
c.7701G>C (p.Glu2567Asp)
c.7671G>C (p.Glu2557Asp)
c.7626G>C (p.Glu2542Asp)
c.7221G>C (p.Glu2407Asp)
c.6579G>C (p.Glu2193Asp)
c.4089G>C (p.Glu1363Asp)
 dbSNP
10g.71802981G=CA1918880416CDH23c.7566G= (p.Glu2522=)
c.1499G= (n.1499G=)
c.1163G= (n.1163G=)
c.7581G= (p.Glu2527=)
c.846G= (p.Glu282=)
n.1102G=
c.7761G= (p.Glu2587=)
c.7695G= (p.Glu2565=)
c.7758G= (p.Glu2586=)
c.7755G= (p.Glu2585=)
c.7701G= (p.Glu2567=)
c.7671G= (p.Glu2557=)
c.7626G= (p.Glu2542=)
c.7221G= (p.Glu2407=)
c.6579G= (p.Glu2193=)
c.4089G= (p.Glu1363=)
10g.71802981G>TCA377160646CDH23c.7566G>T (p.Glu2522Asp)
c.1499G>T (n.1499G>T)
c.1163G>T (n.1163G>T)
c.7581G>T (p.Glu2527Asp)
c.846G>T (p.Glu282Asp)
n.1102G>T
c.7761G>T (p.Glu2587Asp)
c.7695G>T (p.Glu2565Asp)
c.7758G>T (p.Glu2586Asp)
c.7755G>T (p.Glu2585Asp)
c.7701G>T (p.Glu2567Asp)
c.7671G>T (p.Glu2557Asp)
c.7626G>T (p.Glu2542Asp)
c.7221G>T (p.Glu2407Asp)
c.6579G>T (p.Glu2193Asp)
c.4089G>T (p.Glu1363Asp)
10g.71802982C>ACA377160649CDH23c.7567C>A (p.Pro2523Thr)
c.1500C>A (n.1500C>A)
c.1164C>A (n.1164C>A)
c.7582C>A (p.Pro2528Thr)
c.847C>A (p.Pro283Thr)
n.1103C>A
c.7762C>A (p.Pro2588Thr)
c.7696C>A (p.Pro2566Thr)
c.7759C>A (p.Pro2587Thr)
c.7756C>A (p.Pro2586Thr)
c.7702C>A (p.Pro2568Thr)
c.7672C>A (p.Pro2558Thr)
c.7627C>A (p.Pro2543Thr)
c.7222C>A (p.Pro2408Thr)
c.6580C>A (p.Pro2194Thr)
c.4090C>A (p.Pro1364Thr)
 gnomAD v4
10g.71802982C=CA1918880417CDH23c.7567C= (p.Pro2523=)
c.1500C= (n.1500C=)
c.1164C= (n.1164C=)
c.7582C= (p.Pro2528=)
c.847C= (p.Pro283=)
n.1103C=
c.7762C= (p.Pro2588=)
c.7696C= (p.Pro2566=)
c.7759C= (p.Pro2587=)
c.7756C= (p.Pro2586=)
c.7702C= (p.Pro2568=)
c.7672C= (p.Pro2558=)
c.7627C= (p.Pro2543=)
c.7222C= (p.Pro2408=)
c.6580C= (p.Pro2194=)
c.4090C= (p.Pro1364=)
10g.71802982C>GCA377160650CDH23c.7567C>G (p.Pro2523Ala)
c.1500C>G (n.1500C>G)
c.1164C>G (n.1164C>G)
c.7582C>G (p.Pro2528Ala)
c.847C>G (p.Pro283Ala)
n.1103C>G
c.7762C>G (p.Pro2588Ala)
c.7696C>G (p.Pro2566Ala)
c.7759C>G (p.Pro2587Ala)
c.7756C>G (p.Pro2586Ala)
c.7702C>G (p.Pro2568Ala)
c.7672C>G (p.Pro2558Ala)
c.7627C>G (p.Pro2543Ala)
c.7222C>G (p.Pro2408Ala)
c.6580C>G (p.Pro2194Ala)
c.4090C>G (p.Pro1364Ala)
10g.71802982C>TCA5546376CDH23c.7567C>T (p.Pro2523Ser)
c.1500C>T (n.1500C>T)
c.1164C>T (n.1164C>T)
c.7582C>T (p.Pro2528Ser)
c.847C>T (p.Pro283Ser)
n.1103C>T
c.7762C>T (p.Pro2588Ser)
c.7696C>T (p.Pro2566Ser)
c.7759C>T (p.Pro2587Ser)
c.7756C>T (p.Pro2586Ser)
c.7702C>T (p.Pro2568Ser)
c.7672C>T (p.Pro2558Ser)
c.7627C>T (p.Pro2543Ser)
c.7222C>T (p.Pro2408Ser)
c.6580C>T (p.Pro2194Ser)
c.4090C>T (p.Pro1364Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.71802983delCA2695199541CDH23c.7568del (p.Pro2523ArgfsTer9)
c.1501del (n.1501del)
c.1165del (n.1165del)
c.7583del (p.Pro2528ArgfsTer9)
c.848del (p.Pro283ArgfsTer9)
n.1104del
c.7763del (p.Pro2588ArgfsTer9)
c.7697del (p.Pro2566ArgfsTer9)
c.7760del (p.Pro2587ArgfsTer9)
c.7757del (p.Pro2586ArgfsTer9)
c.7703del (p.Pro2568ArgfsTer9)
c.7673del (p.Pro2558ArgfsTer9)
c.7628del (p.Pro2543ArgfsTer9)
c.7223del (p.Pro2408ArgfsTer9)
c.6581del (p.Pro2194ArgfsTer9)
c.4091del (p.Pro1364ArgfsTer9)
 ClinVar
10g.71802983C>ACA377160651CDH23c.7568C>A (p.Pro2523Gln)
c.1501C>A (n.1501C>A)
c.1165C>A (n.1165C>A)
c.7583C>A (p.Pro2528Gln)
c.848C>A (p.Pro283Gln)
n.1104C>A
c.7763C>A (p.Pro2588Gln)
c.7697C>A (p.Pro2566Gln)
c.7760C>A (p.Pro2587Gln)
c.7757C>A (p.Pro2586Gln)
c.7703C>A (p.Pro2568Gln)
c.7673C>A (p.Pro2558Gln)
c.7628C>A (p.Pro2543Gln)
c.7223C>A (p.Pro2408Gln)
c.6581C>A (p.Pro2194Gln)
c.4091C>A (p.Pro1364Gln)
 COSMIC
10g.71802983C=CA1918880418CDH23c.7568C= (p.Pro2523=)
c.1501C= (n.1501C=)
c.1165C= (n.1165C=)
c.7583C= (p.Pro2528=)
c.848C= (p.Pro283=)
n.1104C=
c.7763C= (p.Pro2588=)
c.7697C= (p.Pro2566=)
c.7760C= (p.Pro2587=)
c.7757C= (p.Pro2586=)
c.7703C= (p.Pro2568=)
c.7673C= (p.Pro2558=)
c.7628C= (p.Pro2543=)
c.7223C= (p.Pro2408=)
c.6581C= (p.Pro2194=)
c.4091C= (p.Pro1364=)
10g.71802983C>GCA377160652CDH23c.7568C>G (p.Pro2523Arg)
c.1501C>G (n.1501C>G)
c.1165C>G (n.1165C>G)
c.7583C>G (p.Pro2528Arg)
c.848C>G (p.Pro283Arg)
n.1104C>G
c.7763C>G (p.Pro2588Arg)
c.7697C>G (p.Pro2566Arg)
c.7760C>G (p.Pro2587Arg)
c.7757C>G (p.Pro2586Arg)
c.7703C>G (p.Pro2568Arg)
c.7673C>G (p.Pro2558Arg)
c.7628C>G (p.Pro2543Arg)
c.7223C>G (p.Pro2408Arg)
c.6581C>G (p.Pro2194Arg)
c.4091C>G (p.Pro1364Arg)
 COSMIC
10g.71802983C>TCA5546377CDH23c.7568C>T (p.Pro2523Leu)
c.1501C>T (n.1501C>T)
c.1165C>T (n.1165C>T)
c.7583C>T (p.Pro2528Leu)
c.848C>T (p.Pro283Leu)
n.1104C>T
c.7763C>T (p.Pro2588Leu)
c.7697C>T (p.Pro2566Leu)
c.7760C>T (p.Pro2587Leu)
c.7757C>T (p.Pro2586Leu)
c.7703C>T (p.Pro2568Leu)
c.7673C>T (p.Pro2558Leu)
c.7628C>T (p.Pro2543Leu)
c.7223C>T (p.Pro2408Leu)
c.6581C>T (p.Pro2194Leu)
c.4091C>T (p.Pro1364Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802984G>ACA5546378CDH23c.7569G>A (p.Pro2523=)
c.1502G>A (n.1502G>A)
c.1166G>A (n.1166G>A)
c.7584G>A (p.Pro2528=)
c.849G>A (p.Pro283=)
n.1105G>A
c.7764G>A (p.Pro2588=)
c.7698G>A (p.Pro2566=)
c.7761G>A (p.Pro2587=)
c.7758G>A (p.Pro2586=)
c.7704G>A (p.Pro2568=)
c.7674G>A (p.Pro2558=)
c.7629G>A (p.Pro2543=)
c.7224G>A (p.Pro2408=)
c.6582G>A (p.Pro2194=)
c.4092G>A (p.Pro1364=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802984G>CCA470062484CDH23c.7569G>C (p.Pro2523=)
c.1502G>C (n.1502G>C)
c.1166G>C (n.1166G>C)
c.7584G>C (p.Pro2528=)
c.849G>C (p.Pro283=)
n.1105G>C
c.7764G>C (p.Pro2588=)
c.7698G>C (p.Pro2566=)
c.7761G>C (p.Pro2587=)
c.7758G>C (p.Pro2586=)
c.7704G>C (p.Pro2568=)
c.7674G>C (p.Pro2558=)
c.7629G>C (p.Pro2543=)
c.7224G>C (p.Pro2408=)
c.6582G>C (p.Pro2194=)
c.4092G>C (p.Pro1364=)
10g.71802984G=CA1918880419CDH23c.7569G= (p.Pro2523=)
c.1502G= (n.1502G=)
c.1166G= (n.1166G=)
c.7584G= (p.Pro2528=)
c.849G= (p.Pro283=)
n.1105G=
c.7764G= (p.Pro2588=)
c.7698G= (p.Pro2566=)
c.7761G= (p.Pro2587=)
c.7758G= (p.Pro2586=)
c.7704G= (p.Pro2568=)
c.7674G= (p.Pro2558=)
c.7629G= (p.Pro2543=)
c.7224G= (p.Pro2408=)
c.6582G= (p.Pro2194=)
c.4092G= (p.Pro1364=)
10g.71802984G>TCA470062485CDH23c.7569G>T (p.Pro2523=)
c.1502G>T (n.1502G>T)
c.1166G>T (n.1166G>T)
c.7584G>T (p.Pro2528=)
c.849G>T (p.Pro283=)
n.1105G>T
c.7764G>T (p.Pro2588=)
c.7698G>T (p.Pro2566=)
c.7761G>T (p.Pro2587=)
c.7758G>T (p.Pro2586=)
c.7704G>T (p.Pro2568=)
c.7674G>T (p.Pro2558=)
c.7629G>T (p.Pro2543=)
c.7224G>T (p.Pro2408=)
c.6582G>T (p.Pro2194=)
c.4092G>T (p.Pro1364=)
10g.71802985G>ACA377160656CDH23c.7570G>A (p.Ala2524Thr)
c.1503G>A (n.1503G>A)
c.1167G>A (n.1167G>A)
c.7585G>A (p.Ala2529Thr)
c.850G>A (p.Ala284Thr)
n.1106G>A
c.7765G>A (p.Ala2589Thr)
c.7699G>A (p.Ala2567Thr)
c.7762G>A (p.Ala2588Thr)
c.7759G>A (p.Ala2587Thr)
c.7705G>A (p.Ala2569Thr)
c.7675G>A (p.Ala2559Thr)
c.7630G>A (p.Ala2544Thr)
c.7225G>A (p.Ala2409Thr)
c.6583G>A (p.Ala2195Thr)
c.4093G>A (p.Ala1365Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71802985G>CCA377160657CDH23c.7570G>C (p.Ala2524Pro)
c.1503G>C (n.1503G>C)
c.1167G>C (n.1167G>C)
c.7585G>C (p.Ala2529Pro)
c.850G>C (p.Ala284Pro)
n.1106G>C
c.7765G>C (p.Ala2589Pro)
c.7699G>C (p.Ala2567Pro)
c.7762G>C (p.Ala2588Pro)
c.7759G>C (p.Ala2587Pro)
c.7705G>C (p.Ala2569Pro)
c.7675G>C (p.Ala2559Pro)
c.7630G>C (p.Ala2544Pro)
c.7225G>C (p.Ala2409Pro)
c.6583G>C (p.Ala2195Pro)
c.4093G>C (p.Ala1365Pro)
10g.71802985G=CA1918880420CDH23c.7570G= (p.Ala2524=)
c.1503G= (n.1503G=)
c.1167G= (n.1167G=)
c.7585G= (p.Ala2529=)
c.850G= (p.Ala284=)
n.1106G=
c.7765G= (p.Ala2589=)
c.7699G= (p.Ala2567=)
c.7762G= (p.Ala2588=)
c.7759G= (p.Ala2587=)
c.7705G= (p.Ala2569=)
c.7675G= (p.Ala2559=)
c.7630G= (p.Ala2544=)
c.7225G= (p.Ala2409=)
c.6583G= (p.Ala2195=)
c.4093G= (p.Ala1365=)
10g.71802985G>TCA377160659CDH23c.7570G>T (p.Ala2524Ser)
c.1503G>T (n.1503G>T)
c.1167G>T (n.1167G>T)
c.7585G>T (p.Ala2529Ser)
c.850G>T (p.Ala284Ser)
n.1106G>T
c.7765G>T (p.Ala2589Ser)
c.7699G>T (p.Ala2567Ser)
c.7762G>T (p.Ala2588Ser)
c.7759G>T (p.Ala2587Ser)
c.7705G>T (p.Ala2569Ser)
c.7675G>T (p.Ala2559Ser)
c.7630G>T (p.Ala2544Ser)
c.7225G>T (p.Ala2409Ser)
c.6583G>T (p.Ala2195Ser)
c.4093G>T (p.Ala1365Ser)
10g.71802986C>ACA377160662CDH23c.7571C>A (p.Ala2524Glu)
c.1504C>A (n.1504C>A)
c.1168C>A (n.1168C>A)
c.7586C>A (p.Ala2529Glu)
c.851C>A (p.Ala284Glu)
n.1107C>A
c.7766C>A (p.Ala2589Glu)
c.7700C>A (p.Ala2567Glu)
c.7763C>A (p.Ala2588Glu)
c.7760C>A (p.Ala2587Glu)
c.7706C>A (p.Ala2569Glu)
c.7676C>A (p.Ala2559Glu)
c.7631C>A (p.Ala2544Glu)
c.7226C>A (p.Ala2409Glu)
c.6584C>A (p.Ala2195Glu)
c.4094C>A (p.Ala1365Glu)
 dbSNP gnomAD v2 gnomAD v4
10g.71802986C=CA1918880421CDH23c.7571C= (p.Ala2524=)
c.1504C= (n.1504C=)
c.1168C= (n.1168C=)
c.7586C= (p.Ala2529=)
c.851C= (p.Ala284=)
n.1107C=
c.7766C= (p.Ala2589=)
c.7700C= (p.Ala2567=)
c.7763C= (p.Ala2588=)
c.7760C= (p.Ala2587=)
c.7706C= (p.Ala2569=)
c.7676C= (p.Ala2559=)
c.7631C= (p.Ala2544=)
c.7226C= (p.Ala2409=)
c.6584C= (p.Ala2195=)
c.4094C= (p.Ala1365=)
10g.71802986C>GCA377160664CDH23c.7571C>G (p.Ala2524Gly)
c.1504C>G (n.1504C>G)
c.1168C>G (n.1168C>G)
c.7586C>G (p.Ala2529Gly)
c.851C>G (p.Ala284Gly)
n.1107C>G
c.7766C>G (p.Ala2589Gly)
c.7700C>G (p.Ala2567Gly)
c.7763C>G (p.Ala2588Gly)
c.7760C>G (p.Ala2587Gly)
c.7706C>G (p.Ala2569Gly)
c.7676C>G (p.Ala2559Gly)
c.7631C>G (p.Ala2544Gly)
c.7226C>G (p.Ala2409Gly)
c.6584C>G (p.Ala2195Gly)
c.4094C>G (p.Ala1365Gly)
10g.71802986C>TCA5546379CDH23c.7571C>T (p.Ala2524Val)
c.1504C>T (n.1504C>T)
c.1168C>T (n.1168C>T)
c.7586C>T (p.Ala2529Val)
c.851C>T (p.Ala284Val)
n.1107C>T
c.7766C>T (p.Ala2589Val)
c.7700C>T (p.Ala2567Val)
c.7763C>T (p.Ala2588Val)
c.7760C>T (p.Ala2587Val)
c.7706C>T (p.Ala2569Val)
c.7676C>T (p.Ala2559Val)
c.7631C>T (p.Ala2544Val)
c.7226C>T (p.Ala2409Val)
c.6584C>T (p.Ala2195Val)
c.4094C>T (p.Ala1365Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802987G>ACA137575CDH23c.7572G>A (p.Ala2524=)
c.1505G>A (n.1505G>A)
c.1169G>A (n.1169G>A)
c.7587G>A (p.Ala2529=)
c.852G>A (p.Ala284=)
n.1108G>A
c.7767G>A (p.Ala2589=)
c.7701G>A (p.Ala2567=)
c.7764G>A (p.Ala2588=)
c.7761G>A (p.Ala2587=)
c.7707G>A (p.Ala2569=)
c.7677G>A (p.Ala2559=)
c.7632G>A (p.Ala2544=)
c.7227G>A (p.Ala2409=)
c.6585G>A (p.Ala2195=)
c.4095G>A (p.Ala1365=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802987G>CCA470062486CDH23c.7572G>C (p.Ala2524=)
c.1505G>C (n.1505G>C)
c.1169G>C (n.1169G>C)
c.7587G>C (p.Ala2529=)
c.852G>C (p.Ala284=)
n.1108G>C
c.7767G>C (p.Ala2589=)
c.7701G>C (p.Ala2567=)
c.7764G>C (p.Ala2588=)
c.7761G>C (p.Ala2587=)
c.7707G>C (p.Ala2569=)
c.7677G>C (p.Ala2559=)
c.7632G>C (p.Ala2544=)
c.7227G>C (p.Ala2409=)
c.6585G>C (p.Ala2195=)
c.4095G>C (p.Ala1365=)
10g.71802987G=CA1630848353CDH23c.7572G= (p.Ala2524=)
c.1505G= (n.1505G=)
c.1169G= (n.1169G=)
c.7587G= (p.Ala2529=)
c.852G= (p.Ala284=)
n.1108G=
c.7767G= (p.Ala2589=)
c.7701G= (p.Ala2567=)
c.7764G= (p.Ala2588=)
c.7761G= (p.Ala2587=)
c.7707G= (p.Ala2569=)
c.7677G= (p.Ala2559=)
c.7632G= (p.Ala2544=)
c.7227G= (p.Ala2409=)
c.6585G= (p.Ala2195=)
c.4095G= (p.Ala1365=)
10g.71802987G>TCA470062487CDH23c.7572G>T (p.Ala2524=)
c.1505G>T (n.1505G>T)
c.1169G>T (n.1169G>T)
c.7587G>T (p.Ala2529=)
c.852G>T (p.Ala284=)
n.1108G>T
c.7767G>T (p.Ala2589=)
c.7701G>T (p.Ala2567=)
c.7764G>T (p.Ala2588=)
c.7761G>T (p.Ala2587=)
c.7707G>T (p.Ala2569=)
c.7677G>T (p.Ala2559=)
c.7632G>T (p.Ala2544=)
c.7227G>T (p.Ala2409=)
c.6585G>T (p.Ala2195=)
c.4095G>T (p.Ala1365=)
 dbSNP
10g.71802988G>ACA377160672CDH23c.7573G>A (p.Gly2525Ser)
c.1506G>A (n.1506G>A)
c.1170G>A (n.1170G>A)
c.7588G>A (p.Gly2530Ser)
c.853G>A (p.Gly285Ser)
n.1109G>A
c.7768G>A (p.Gly2590Ser)
c.7702G>A (p.Gly2568Ser)
c.7765G>A (p.Gly2589Ser)
c.7762G>A (p.Gly2588Ser)
c.7708G>A (p.Gly2570Ser)
c.7678G>A (p.Gly2560Ser)
c.7633G>A (p.Gly2545Ser)
c.7228G>A (p.Gly2410Ser)
c.6586G>A (p.Gly2196Ser)
c.4096G>A (p.Gly1366Ser)
10g.71802988G>CCA377160670CDH23c.7573G>C (p.Gly2525Arg)
c.1506G>C (n.1506G>C)
c.1170G>C (n.1170G>C)
c.7588G>C (p.Gly2530Arg)
c.853G>C (p.Gly285Arg)
n.1109G>C
c.7768G>C (p.Gly2590Arg)
c.7702G>C (p.Gly2568Arg)
c.7765G>C (p.Gly2589Arg)
c.7762G>C (p.Gly2588Arg)
c.7708G>C (p.Gly2570Arg)
c.7678G>C (p.Gly2560Arg)
c.7633G>C (p.Gly2545Arg)
c.7228G>C (p.Gly2410Arg)
c.6586G>C (p.Gly2196Arg)
c.4096G>C (p.Gly1366Arg)
10g.71802988G>TCA377160668CDH23c.7573G>T (p.Gly2525Cys)
c.1506G>T (n.1506G>T)
c.1170G>T (n.1170G>T)
c.7588G>T (p.Gly2530Cys)
c.853G>T (p.Gly285Cys)
n.1109G>T
c.7768G>T (p.Gly2590Cys)
c.7702G>T (p.Gly2568Cys)
c.7765G>T (p.Gly2589Cys)
c.7762G>T (p.Gly2588Cys)
c.7708G>T (p.Gly2570Cys)
c.7678G>T (p.Gly2560Cys)
c.7633G>T (p.Gly2545Cys)
c.7228G>T (p.Gly2410Cys)
c.6586G>T (p.Gly2196Cys)
c.4096G>T (p.Gly1366Cys)
10g.71802989G>ACA377160675CDH23c.7574G>A (p.Gly2525Asp)
c.1507G>A (n.1507G>A)
c.1171G>A (n.1171G>A)
c.7589G>A (p.Gly2530Asp)
c.854G>A (p.Gly285Asp)
n.1110G>A
c.7769G>A (p.Gly2590Asp)
c.7703G>A (p.Gly2568Asp)
c.7766G>A (p.Gly2589Asp)
c.7763G>A (p.Gly2588Asp)
c.7709G>A (p.Gly2570Asp)
c.7679G>A (p.Gly2560Asp)
c.7634G>A (p.Gly2545Asp)
c.7229G>A (p.Gly2410Asp)
c.6587G>A (p.Gly2196Asp)
c.4097G>A (p.Gly1366Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71802989G>CCA377160676CDH23c.7574G>C (p.Gly2525Ala)
c.1507G>C (n.1507G>C)
c.1171G>C (n.1171G>C)
c.7589G>C (p.Gly2530Ala)
c.854G>C (p.Gly285Ala)
n.1110G>C
c.7769G>C (p.Gly2590Ala)
c.7703G>C (p.Gly2568Ala)
c.7766G>C (p.Gly2589Ala)
c.7763G>C (p.Gly2588Ala)
c.7709G>C (p.Gly2570Ala)
c.7679G>C (p.Gly2560Ala)
c.7634G>C (p.Gly2545Ala)
c.7229G>C (p.Gly2410Ala)
c.6587G>C (p.Gly2196Ala)
c.4097G>C (p.Gly1366Ala)
10g.71802989G=CA1918880422CDH23c.7574G= (p.Gly2525=)
c.1507G= (n.1507G=)
c.1171G= (n.1171G=)
c.7589G= (p.Gly2530=)
c.854G= (p.Gly285=)
n.1110G=
c.7769G= (p.Gly2590=)
c.7703G= (p.Gly2568=)
c.7766G= (p.Gly2589=)
c.7763G= (p.Gly2588=)
c.7709G= (p.Gly2570=)
c.7679G= (p.Gly2560=)
c.7634G= (p.Gly2545=)
c.7229G= (p.Gly2410=)
c.6587G= (p.Gly2196=)
c.4097G= (p.Gly1366=)
10g.71802989G>TCA377160677CDH23c.7574G>T (p.Gly2525Val)
c.1507G>T (n.1507G>T)
c.1171G>T (n.1171G>T)
c.7589G>T (p.Gly2530Val)
c.854G>T (p.Gly285Val)
n.1110G>T
c.7769G>T (p.Gly2590Val)
c.7703G>T (p.Gly2568Val)
c.7766G>T (p.Gly2589Val)
c.7763G>T (p.Gly2588Val)
c.7709G>T (p.Gly2570Val)
c.7679G>T (p.Gly2560Val)
c.7634G>T (p.Gly2545Val)
c.7229G>T (p.Gly2410Val)
c.6587G>T (p.Gly2196Val)
c.4097G>T (p.Gly1366Val)
 COSMIC
10g.71802990C>ACA470062488CDH23c.7575C>A (p.Gly2525=)
c.1508C>A (n.1508C>A)
c.1172C>A (n.1172C>A)
c.7590C>A (p.Gly2530=)
c.855C>A (p.Gly285=)
n.1111C>A
c.7770C>A (p.Gly2590=)
c.7704C>A (p.Gly2568=)
c.7767C>A (p.Gly2589=)
c.7764C>A (p.Gly2588=)
c.7710C>A (p.Gly2570=)
c.7680C>A (p.Gly2560=)
c.7635C>A (p.Gly2545=)
c.7230C>A (p.Gly2410=)
c.6588C>A (p.Gly2196=)
c.4098C>A (p.Gly1366=)
10g.71802990C>GCA470062490CDH23c.7575C>G (p.Gly2525=)
c.1508C>G (n.1508C>G)
c.1172C>G (n.1172C>G)
c.7590C>G (p.Gly2530=)
c.855C>G (p.Gly285=)
n.1111C>G
c.7770C>G (p.Gly2590=)
c.7704C>G (p.Gly2568=)
c.7767C>G (p.Gly2589=)
c.7764C>G (p.Gly2588=)
c.7710C>G (p.Gly2570=)
c.7680C>G (p.Gly2560=)
c.7635C>G (p.Gly2545=)
c.7230C>G (p.Gly2410=)
c.6588C>G (p.Gly2196=)
c.4098C>G (p.Gly1366=)
10g.71802990C>TCA470062489CDH23c.7575C>T (p.Gly2525=)
c.1508C>T (n.1508C>T)
c.1172C>T (n.1172C>T)
c.7590C>T (p.Gly2530=)
c.855C>T (p.Gly285=)
n.1111C>T
c.7770C>T (p.Gly2590=)
c.7704C>T (p.Gly2568=)
c.7767C>T (p.Gly2589=)
c.7764C>T (p.Gly2588=)
c.7710C>T (p.Gly2570=)
c.7680C>T (p.Gly2560=)
c.7635C>T (p.Gly2545=)
c.7230C>T (p.Gly2410=)
c.6588C>T (p.Gly2196=)
c.4098C>T (p.Gly1366=)
 gnomAD v4
10g.71802991A>CCA377160678CDH23c.7576A>C (p.Thr2526Pro)
c.1509A>C (n.1509A>C)
c.1173A>C (n.1173A>C)
c.7591A>C (p.Thr2531Pro)
c.856A>C (p.Thr286Pro)
n.1112A>C
c.7771A>C (p.Thr2591Pro)
c.7705A>C (p.Thr2569Pro)
c.7768A>C (p.Thr2590Pro)
c.7765A>C (p.Thr2589Pro)
c.7711A>C (p.Thr2571Pro)
c.7681A>C (p.Thr2561Pro)
c.7636A>C (p.Thr2546Pro)
c.7231A>C (p.Thr2411Pro)
c.6589A>C (p.Thr2197Pro)
c.4099A>C (p.Thr1367Pro)
 gnomAD v4
10g.71802991A>GCA377160680CDH23c.7576A>G (p.Thr2526Ala)
c.1509A>G (n.1509A>G)
c.1173A>G (n.1173A>G)
c.7591A>G (p.Thr2531Ala)
c.856A>G (p.Thr286Ala)
n.1112A>G
c.7771A>G (p.Thr2591Ala)
c.7705A>G (p.Thr2569Ala)
c.7768A>G (p.Thr2590Ala)
c.7765A>G (p.Thr2589Ala)
c.7711A>G (p.Thr2571Ala)
c.7681A>G (p.Thr2561Ala)
c.7636A>G (p.Thr2546Ala)
c.7231A>G (p.Thr2411Ala)
c.6589A>G (p.Thr2197Ala)
c.4099A>G (p.Thr1367Ala)
10g.71802991A>TCA377160681CDH23c.7576A>T (p.Thr2526Ser)
c.1509A>T (n.1509A>T)
c.1173A>T (n.1173A>T)
c.7591A>T (p.Thr2531Ser)
c.856A>T (p.Thr286Ser)
n.1112A>T
c.7771A>T (p.Thr2591Ser)
c.7705A>T (p.Thr2569Ser)
c.7768A>T (p.Thr2590Ser)
c.7765A>T (p.Thr2589Ser)
c.7711A>T (p.Thr2571Ser)
c.7681A>T (p.Thr2561Ser)
c.7636A>T (p.Thr2546Ser)
c.7231A>T (p.Thr2411Ser)
c.6589A>T (p.Thr2197Ser)
c.4099A>T (p.Thr1367Ser)
10g.71802992C>ACA377160684CDH23c.7577C>A (p.Thr2526Asn)
c.1510C>A (n.1510C>A)
c.1174C>A (n.1174C>A)
c.7592C>A (p.Thr2531Asn)
c.857C>A (p.Thr286Asn)
n.1113C>A
c.7772C>A (p.Thr2591Asn)
c.7706C>A (p.Thr2569Asn)
c.7769C>A (p.Thr2590Asn)
c.7766C>A (p.Thr2589Asn)
c.7712C>A (p.Thr2571Asn)
c.7682C>A (p.Thr2561Asn)
c.7637C>A (p.Thr2546Asn)
c.7232C>A (p.Thr2411Asn)
c.6590C>A (p.Thr2197Asn)
c.4100C>A (p.Thr1367Asn)
10g.71802992C=CA1918880423CDH23c.7577C= (p.Thr2526=)
c.1510C= (n.1510C=)
c.1174C= (n.1174C=)
c.7592C= (p.Thr2531=)
c.857C= (p.Thr286=)
n.1113C=
c.7772C= (p.Thr2591=)
c.7706C= (p.Thr2569=)
c.7769C= (p.Thr2590=)
c.7766C= (p.Thr2589=)
c.7712C= (p.Thr2571=)
c.7682C= (p.Thr2561=)
c.7637C= (p.Thr2546=)
c.7232C= (p.Thr2411=)
c.6590C= (p.Thr2197=)
c.4100C= (p.Thr1367=)
10g.71802992C>GCA377160685CDH23c.7577C>G (p.Thr2526Ser)
c.1510C>G (n.1510C>G)
c.1174C>G (n.1174C>G)
c.7592C>G (p.Thr2531Ser)
c.857C>G (p.Thr286Ser)
n.1113C>G
c.7772C>G (p.Thr2591Ser)
c.7706C>G (p.Thr2569Ser)
c.7769C>G (p.Thr2590Ser)
c.7766C>G (p.Thr2589Ser)
c.7712C>G (p.Thr2571Ser)
c.7682C>G (p.Thr2561Ser)
c.7637C>G (p.Thr2546Ser)
c.7232C>G (p.Thr2411Ser)
c.6590C>G (p.Thr2197Ser)
c.4100C>G (p.Thr1367Ser)
 dbSNP
10g.71802992C>TCA377160687CDH23c.7577C>T (p.Thr2526Ile)
c.1510C>T (n.1510C>T)
c.1174C>T (n.1174C>T)
c.7592C>T (p.Thr2531Ile)
c.857C>T (p.Thr286Ile)
n.1113C>T
c.7772C>T (p.Thr2591Ile)
c.7706C>T (p.Thr2569Ile)
c.7769C>T (p.Thr2590Ile)
c.7766C>T (p.Thr2589Ile)
c.7712C>T (p.Thr2571Ile)
c.7682C>T (p.Thr2561Ile)
c.7637C>T (p.Thr2546Ile)
c.7232C>T (p.Thr2411Ile)
c.6590C>T (p.Thr2197Ile)
c.4100C>T (p.Thr1367Ile)
10g.71802993C>ACA470062491CDH23c.7578C>A (p.Thr2526=)
c.1511C>A (n.1511C>A)
c.1175C>A (n.1175C>A)
c.7593C>A (p.Thr2531=)
c.858C>A (p.Thr286=)
n.1114C>A
c.7773C>A (p.Thr2591=)
c.7707C>A (p.Thr2569=)
c.7770C>A (p.Thr2590=)
c.7767C>A (p.Thr2589=)
c.7713C>A (p.Thr2571=)
c.7683C>A (p.Thr2561=)
c.7638C>A (p.Thr2546=)
c.7233C>A (p.Thr2411=)
c.6591C>A (p.Thr2197=)
c.4101C>A (p.Thr1367=)
10g.71802993C>GCA470062492CDH23c.7578C>G (p.Thr2526=)
c.1511C>G (n.1511C>G)
c.1175C>G (n.1175C>G)
c.7593C>G (p.Thr2531=)
c.858C>G (p.Thr286=)
n.1114C>G
c.7773C>G (p.Thr2591=)
c.7707C>G (p.Thr2569=)
c.7770C>G (p.Thr2590=)
c.7767C>G (p.Thr2589=)
c.7713C>G (p.Thr2571=)
c.7683C>G (p.Thr2561=)
c.7638C>G (p.Thr2546=)
c.7233C>G (p.Thr2411=)
c.6591C>G (p.Thr2197=)
c.4101C>G (p.Thr1367=)
 ClinVar gnomAD v4
10g.71802993C>TCA470062493CDH23c.7578C>T (p.Thr2526=)
c.1511C>T (n.1511C>T)
c.1175C>T (n.1175C>T)
c.7593C>T (p.Thr2531=)
c.858C>T (p.Thr286=)
n.1114C>T
c.7773C>T (p.Thr2591=)
c.7707C>T (p.Thr2569=)
c.7770C>T (p.Thr2590=)
c.7767C>T (p.Thr2589=)
c.7713C>T (p.Thr2571=)
c.7683C>T (p.Thr2561=)
c.7638C>T (p.Thr2546=)
c.7233C>T (p.Thr2411=)
c.6591C>T (p.Thr2197=)
c.4101C>T (p.Thr1367=)
 gnomAD v4 COSMIC
10g.71802994T>ACA377160689CDH23c.7579T>A (p.Ser2527Thr)
c.1512T>A (n.1512T>A)
c.1176T>A (n.1176T>A)
c.7594T>A (p.Ser2532Thr)
c.859T>A (p.Ser287Thr)
n.1115T>A
c.7774T>A (p.Ser2592Thr)
c.7708T>A (p.Ser2570Thr)
c.7771T>A (p.Ser2591Thr)
c.7768T>A (p.Ser2590Thr)
c.7714T>A (p.Ser2572Thr)
c.7684T>A (p.Ser2562Thr)
c.7639T>A (p.Ser2547Thr)
c.7234T>A (p.Ser2412Thr)
c.6592T>A (p.Ser2198Thr)
c.4102T>A (p.Ser1368Thr)
10g.71802994T>CCA377160691CDH23c.7579T>C (p.Ser2527Pro)
c.1512T>C (n.1512T>C)
c.1176T>C (n.1176T>C)
c.7594T>C (p.Ser2532Pro)
c.859T>C (p.Ser287Pro)
n.1115T>C
c.7774T>C (p.Ser2592Pro)
c.7708T>C (p.Ser2570Pro)
c.7771T>C (p.Ser2591Pro)
c.7768T>C (p.Ser2590Pro)
c.7714T>C (p.Ser2572Pro)
c.7684T>C (p.Ser2562Pro)
c.7639T>C (p.Ser2547Pro)
c.7234T>C (p.Ser2412Pro)
c.6592T>C (p.Ser2198Pro)
c.4102T>C (p.Ser1368Pro)
10g.71802994T>GCA377160693CDH23c.7579T>G (p.Ser2527Ala)
c.1512T>G (n.1512T>G)
c.1176T>G (n.1176T>G)
c.7594T>G (p.Ser2532Ala)
c.859T>G (p.Ser287Ala)
n.1115T>G
c.7774T>G (p.Ser2592Ala)
c.7708T>G (p.Ser2570Ala)
c.7771T>G (p.Ser2591Ala)
c.7768T>G (p.Ser2590Ala)
c.7714T>G (p.Ser2572Ala)
c.7684T>G (p.Ser2562Ala)
c.7639T>G (p.Ser2547Ala)
c.7234T>G (p.Ser2412Ala)
c.6592T>G (p.Ser2198Ala)
c.4102T>G (p.Ser1368Ala)
 gnomAD v4
10g.71802995C>ACA377160696CDH23c.7580C>A (p.Ser2527Ter)
c.1513C>A (n.1513C>A)
c.1177C>A (n.1177C>A)
c.7595C>A (p.Ser2532Ter)
c.860C>A (p.Ser287Ter)
n.1116C>A
c.7775C>A (p.Ser2592Ter)
c.7709C>A (p.Ser2570Ter)
c.7772C>A (p.Ser2591Ter)
c.7769C>A (p.Ser2590Ter)
c.7715C>A (p.Ser2572Ter)
c.7685C>A (p.Ser2562Ter)
c.7640C>A (p.Ser2547Ter)
c.7235C>A (p.Ser2412Ter)
c.6593C>A (p.Ser2198Ter)
c.4103C>A (p.Ser1368Ter)
 ClinVar
10g.71802995C=CA1918880424CDH23c.7580C= (p.Ser2527=)
c.1513C= (n.1513C=)
c.1177C= (n.1177C=)
c.7595C= (p.Ser2532=)
c.860C= (p.Ser287=)
n.1116C=
c.7775C= (p.Ser2592=)
c.7709C= (p.Ser2570=)
c.7772C= (p.Ser2591=)
c.7769C= (p.Ser2590=)
c.7715C= (p.Ser2572=)
c.7685C= (p.Ser2562=)
c.7640C= (p.Ser2547=)
c.7235C= (p.Ser2412=)
c.6593C= (p.Ser2198=)
c.4103C= (p.Ser1368=)
10g.71802995C>GCA377160698CDH23c.7580C>G (p.Ser2527Trp)
c.1513C>G (n.1513C>G)
c.1177C>G (n.1177C>G)
c.7595C>G (p.Ser2532Trp)
c.860C>G (p.Ser287Trp)
n.1116C>G
c.7775C>G (p.Ser2592Trp)
c.7709C>G (p.Ser2570Trp)
c.7772C>G (p.Ser2591Trp)
c.7769C>G (p.Ser2590Trp)
c.7715C>G (p.Ser2572Trp)
c.7685C>G (p.Ser2562Trp)
c.7640C>G (p.Ser2547Trp)
c.7235C>G (p.Ser2412Trp)
c.6593C>G (p.Ser2198Trp)
c.4103C>G (p.Ser1368Trp)
10g.71802995C>TCA5546380CDH23c.7580C>T (p.Ser2527Leu)
c.1513C>T (n.1513C>T)
c.1177C>T (n.1177C>T)
c.7595C>T (p.Ser2532Leu)
c.860C>T (p.Ser287Leu)
n.1116C>T
c.7775C>T (p.Ser2592Leu)
c.7709C>T (p.Ser2570Leu)
c.7772C>T (p.Ser2591Leu)
c.7769C>T (p.Ser2590Leu)
c.7715C>T (p.Ser2572Leu)
c.7685C>T (p.Ser2562Leu)
c.7640C>T (p.Ser2547Leu)
c.7235C>T (p.Ser2412Leu)
c.6593C>T (p.Ser2198Leu)
c.4103C>T (p.Ser1368Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802996G>ACA5546381CDH23c.7581G>A (p.Ser2527=)
c.1514G>A (n.1514G>A)
c.1178G>A (n.1178G>A)
c.7596G>A (p.Ser2532=)
c.861G>A (p.Ser287=)
n.1117G>A
c.7776G>A (p.Ser2592=)
c.7710G>A (p.Ser2570=)
c.7773G>A (p.Ser2591=)
c.7770G>A (p.Ser2590=)
c.7716G>A (p.Ser2572=)
c.7686G>A (p.Ser2562=)
c.7641G>A (p.Ser2547=)
c.7236G>A (p.Ser2412=)
c.6594G>A (p.Ser2198=)
c.4104G>A (p.Ser1368=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71802996G>CCA470062494CDH23c.7581G>C (p.Ser2527=)
c.1514G>C (n.1514G>C)
c.1178G>C (n.1178G>C)
c.7596G>C (p.Ser2532=)
c.861G>C (p.Ser287=)
n.1117G>C
c.7776G>C (p.Ser2592=)
c.7710G>C (p.Ser2570=)
c.7773G>C (p.Ser2591=)
c.7770G>C (p.Ser2590=)
c.7716G>C (p.Ser2572=)
c.7686G>C (p.Ser2562=)
c.7641G>C (p.Ser2547=)
c.7236G>C (p.Ser2412=)
c.6594G>C (p.Ser2198=)
c.4104G>C (p.Ser1368=)
10g.71802996G=CA1918880425CDH23c.7581G= (p.Ser2527=)
c.1514G= (n.1514G=)
c.1178G= (n.1178G=)
c.7596G= (p.Ser2532=)
c.861G= (p.Ser287=)
n.1117G=
c.7776G= (p.Ser2592=)
c.7710G= (p.Ser2570=)
c.7773G= (p.Ser2591=)
c.7770G= (p.Ser2590=)
c.7716G= (p.Ser2572=)
c.7686G= (p.Ser2562=)
c.7641G= (p.Ser2547=)
c.7236G= (p.Ser2412=)
c.6594G= (p.Ser2198=)
c.4104G= (p.Ser1368=)
10g.71802996G>TCA470062495CDH23c.7581G>T (p.Ser2527=)
c.1514G>T (n.1514G>T)
c.1178G>T (n.1178G>T)
c.7596G>T (p.Ser2532=)
c.861G>T (p.Ser287=)
n.1117G>T
c.7776G>T (p.Ser2592=)
c.7710G>T (p.Ser2570=)
c.7773G>T (p.Ser2591=)
c.7770G>T (p.Ser2590=)
c.7716G>T (p.Ser2572=)
c.7686G>T (p.Ser2562=)
c.7641G>T (p.Ser2547=)
c.7236G>T (p.Ser2412=)
c.6594G>T (p.Ser2198=)
c.4104G>T (p.Ser1368=)
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

Number of alleles fetched