Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71709138T>ACA377143189CDH23c.3147T>A (p.Asp1049Glu)
c.2578T>A
c.3162T>A (p.Asp1054Glu)
c.1922T>A
c.3342T>A (p.Asp1114Glu)
c.3276T>A (p.Asp1092Glu)
c.3336T>A (p.Asp1112Glu)
c.3282T>A (p.Asp1094Glu)
c.3207T>A (p.Asp1069Glu)
c.2802T>A (p.Asp934Glu)
c.2160T>A (p.Asp720Glu)
n.3585T>A
10g.71709138T>CCA5544495CDH23c.3147T>C (p.Asp1049=)
c.2578T>C
c.3162T>C (p.Asp1054=)
c.1922T>C
c.3342T>C (p.Asp1114=)
c.3276T>C (p.Asp1092=)
c.3336T>C (p.Asp1112=)
c.3282T>C (p.Asp1094=)
c.3207T>C (p.Asp1069=)
c.2802T>C (p.Asp934=)
c.2160T>C (p.Asp720=)
n.3585T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709138T>GCA377143194CDH23c.3147T>G (p.Asp1049Glu)
c.2578T>G
c.3162T>G (p.Asp1054Glu)
c.1922T>G
c.3342T>G (p.Asp1114Glu)
c.3276T>G (p.Asp1092Glu)
c.3336T>G (p.Asp1112Glu)
c.3282T>G (p.Asp1094Glu)
c.3207T>G (p.Asp1069Glu)
c.2802T>G (p.Asp934Glu)
c.2160T>G (p.Asp720Glu)
n.3585T>G
 gnomAD v4
10g.71709138T=CA1918840821CDH23c.3147T= (p.Asp1049=)
c.2578T=
c.3162T= (p.Asp1054=)
c.1922T=
c.3342T= (p.Asp1114=)
c.3276T= (p.Asp1092=)
c.3336T= (p.Asp1112=)
c.3282T= (p.Asp1094=)
c.3207T= (p.Asp1069=)
c.2802T= (p.Asp934=)
c.2160T= (p.Asp720=)
n.3585T=
10g.71709139G>ACA377143196CDH23c.3148G>A (p.Ala1050Thr)
c.2579G>A
c.3163G>A (p.Ala1055Thr)
c.1923G>A
c.3343G>A (p.Ala1115Thr)
c.3277G>A (p.Ala1093Thr)
c.3337G>A (p.Ala1113Thr)
c.3283G>A (p.Ala1095Thr)
c.3208G>A (p.Ala1070Thr)
c.2803G>A (p.Ala935Thr)
c.2161G>A (p.Ala721Thr)
n.3586G>A
 gnomAD v4
10g.71709139G>CCA377143199CDH23c.3148G>C (p.Ala1050Pro)
c.2579G>C
c.3163G>C (p.Ala1055Pro)
c.1923G>C
c.3343G>C (p.Ala1115Pro)
c.3277G>C (p.Ala1093Pro)
c.3337G>C (p.Ala1113Pro)
c.3283G>C (p.Ala1095Pro)
c.3208G>C (p.Ala1070Pro)
c.2803G>C (p.Ala935Pro)
c.2161G>C (p.Ala721Pro)
n.3586G>C
10g.71709139G>TCA377143206CDH23c.3148G>T (p.Ala1050Ser)
c.2579G>T
c.3163G>T (p.Ala1055Ser)
c.1923G>T
c.3343G>T (p.Ala1115Ser)
c.3277G>T (p.Ala1093Ser)
c.3337G>T (p.Ala1113Ser)
c.3283G>T (p.Ala1095Ser)
c.3208G>T (p.Ala1070Ser)
c.2803G>T (p.Ala935Ser)
c.2161G>T (p.Ala721Ser)
n.3586G>T
10g.71709140C>ACA377143208CDH23c.3149C>A (p.Ala1050Asp)
c.2580C>A
c.3164C>A (p.Ala1055Asp)
c.1924C>A
c.3344C>A (p.Ala1115Asp)
c.3278C>A (p.Ala1093Asp)
c.3338C>A (p.Ala1113Asp)
c.3284C>A (p.Ala1095Asp)
c.3209C>A (p.Ala1070Asp)
c.2804C>A (p.Ala935Asp)
c.2162C>A (p.Ala721Asp)
n.3587C>A
10g.71709140C>GCA377143210CDH23c.3149C>G (p.Ala1050Gly)
c.2580C>G
c.3164C>G (p.Ala1055Gly)
c.1924C>G
c.3344C>G (p.Ala1115Gly)
c.3278C>G (p.Ala1093Gly)
c.3338C>G (p.Ala1113Gly)
c.3284C>G (p.Ala1095Gly)
c.3209C>G (p.Ala1070Gly)
c.2804C>G (p.Ala935Gly)
c.2162C>G (p.Ala721Gly)
n.3587C>G
 gnomAD v4 COSMIC COSMIC
10g.71709140C>TCA377143212CDH23c.3149C>T (p.Ala1050Val)
c.2580C>T
c.3164C>T (p.Ala1055Val)
c.1924C>T
c.3344C>T (p.Ala1115Val)
c.3278C>T (p.Ala1093Val)
c.3338C>T (p.Ala1113Val)
c.3284C>T (p.Ala1095Val)
c.3209C>T (p.Ala1070Val)
c.2804C>T (p.Ala935Val)
c.2162C>T (p.Ala721Val)
n.3587C>T
 COSMIC
10g.71709141C>ACA5544496CDH23c.3150C>A (p.Ala1050=)
c.2581C>A
c.3165C>A (p.Ala1055=)
c.1925C>A
c.3345C>A (p.Ala1115=)
c.3279C>A (p.Ala1093=)
c.3339C>A (p.Ala1113=)
c.3285C>A (p.Ala1095=)
c.3210C>A (p.Ala1070=)
c.2805C>A (p.Ala935=)
c.2163C>A (p.Ala721=)
n.3588C>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.71709141C=CA1918840831CDH23c.3150C= (p.Ala1050=)
c.2581C=
c.3165C= (p.Ala1055=)
c.1925C=
c.3345C= (p.Ala1115=)
c.3279C= (p.Ala1093=)
c.3339C= (p.Ala1113=)
c.3285C= (p.Ala1095=)
c.3210C= (p.Ala1070=)
c.2805C= (p.Ala935=)
c.2163C= (p.Ala721=)
n.3588C=
10g.71709141C>GCA470062380CDH23c.3150C>G (p.Ala1050=)
c.2581C>G
c.3165C>G (p.Ala1055=)
c.1925C>G
c.3345C>G (p.Ala1115=)
c.3279C>G (p.Ala1093=)
c.3339C>G (p.Ala1113=)
c.3285C>G (p.Ala1095=)
c.3210C>G (p.Ala1070=)
c.2805C>G (p.Ala935=)
c.2163C>G (p.Ala721=)
n.3588C>G
 dbSNP gnomAD v3 gnomAD v4
10g.71709141C>TCA209462124CDH23c.3150C>T (p.Ala1050=)
c.2581C>T
c.3165C>T (p.Ala1055=)
c.1925C>T
c.3345C>T (p.Ala1115=)
c.3279C>T (p.Ala1093=)
c.3339C>T (p.Ala1113=)
c.3285C>T (p.Ala1095=)
c.3210C>T (p.Ala1070=)
c.2805C>T (p.Ala935=)
c.2163C>T (p.Ala721=)
n.3588C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.71709142G>ACA10576812CDH23c.3151G>A (p.Val1051Ile)
c.2582G>A
c.3166G>A (p.Val1056Ile)
c.1926G>A
c.3346G>A (p.Val1116Ile)
c.3280G>A (p.Val1094Ile)
c.3340G>A (p.Val1114Ile)
c.3286G>A (p.Val1096Ile)
c.3211G>A (p.Val1071Ile)
c.2806G>A (p.Val936Ile)
c.2164G>A (p.Val722Ile)
n.3589G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71709142G>CCA377143222CDH23c.3151G>C (p.Val1051Leu)
c.2582G>C
c.3166G>C (p.Val1056Leu)
c.1926G>C
c.3346G>C (p.Val1116Leu)
c.3280G>C (p.Val1094Leu)
c.3340G>C (p.Val1114Leu)
c.3286G>C (p.Val1096Leu)
c.3211G>C (p.Val1071Leu)
c.2806G>C (p.Val936Leu)
c.2164G>C (p.Val722Leu)
n.3589G>C
10g.71709142G=CA1918840836CDH23c.3151G= (p.Val1051=)
c.2582G=
c.3166G= (p.Val1056=)
c.1926G=
c.3346G= (p.Val1116=)
c.3280G= (p.Val1094=)
c.3340G= (p.Val1114=)
c.3286G= (p.Val1096=)
c.3211G= (p.Val1071=)
c.2806G= (p.Val936=)
c.2164G= (p.Val722=)
n.3589G=
10g.71709142G>TCA377143218CDH23c.3151G>T (p.Val1051Phe)
c.2582G>T
c.3166G>T (p.Val1056Phe)
c.1926G>T
c.3346G>T (p.Val1116Phe)
c.3280G>T (p.Val1094Phe)
c.3340G>T (p.Val1114Phe)
c.3286G>T (p.Val1096Phe)
c.3211G>T (p.Val1071Phe)
c.2806G>T (p.Val936Phe)
c.2164G>T (p.Val722Phe)
n.3589G>T
 gnomAD v4
10g.71709143T>ACA377143228CDH23c.3152T>A (p.Val1051Asp)
c.2583T>A
c.3167T>A (p.Val1056Asp)
c.1927T>A
c.3347T>A (p.Val1116Asp)
c.3281T>A (p.Val1094Asp)
c.3341T>A (p.Val1114Asp)
c.3287T>A (p.Val1096Asp)
c.3212T>A (p.Val1071Asp)
c.2807T>A (p.Val936Asp)
c.2165T>A (p.Val722Asp)
n.3590T>A
10g.71709143T>CCA377143231CDH23c.3152T>C (p.Val1051Ala)
c.2583T>C
c.3167T>C (p.Val1056Ala)
c.1927T>C
c.3347T>C (p.Val1116Ala)
c.3281T>C (p.Val1094Ala)
c.3341T>C (p.Val1114Ala)
c.3287T>C (p.Val1096Ala)
c.3212T>C (p.Val1071Ala)
c.2807T>C (p.Val936Ala)
c.2165T>C (p.Val722Ala)
n.3590T>C
10g.71709143T>GCA377143237CDH23c.3152T>G (p.Val1051Gly)
c.2583T>G
c.3167T>G (p.Val1056Gly)
c.1927T>G
c.3347T>G (p.Val1116Gly)
c.3281T>G (p.Val1094Gly)
c.3341T>G (p.Val1114Gly)
c.3287T>G (p.Val1096Gly)
c.3212T>G (p.Val1071Gly)
c.2807T>G (p.Val936Gly)
c.2165T>G (p.Val722Gly)
n.3590T>G
10g.71709144T>ACA470062381CDH23c.3153T>A (p.Val1051=)
c.2584T>A
c.3168T>A (p.Val1056=)
c.1928T>A
c.3348T>A (p.Val1116=)
c.3282T>A (p.Val1094=)
c.3342T>A (p.Val1114=)
c.3288T>A (p.Val1096=)
c.3213T>A (p.Val1071=)
c.2808T>A (p.Val936=)
c.2166T>A (p.Val722=)
n.3591T>A
10g.71709144T>CCA5544497CDH23c.3153T>C (p.Val1051=)
c.2584T>C
c.3168T>C (p.Val1056=)
c.1928T>C
c.3348T>C (p.Val1116=)
c.3282T>C (p.Val1094=)
c.3342T>C (p.Val1114=)
c.3288T>C (p.Val1096=)
c.3213T>C (p.Val1071=)
c.2808T>C (p.Val936=)
c.2166T>C (p.Val722=)
n.3591T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709144T>GCA470062382CDH23c.3153T>G (p.Val1051=)
c.2584T>G
c.3168T>G (p.Val1056=)
c.1928T>G
c.3348T>G (p.Val1116=)
c.3282T>G (p.Val1094=)
c.3342T>G (p.Val1114=)
c.3288T>G (p.Val1096=)
c.3213T>G (p.Val1071=)
c.2808T>G (p.Val936=)
c.2166T>G (p.Val722=)
n.3591T>G
10g.71709144T=CA1918840843CDH23c.3153T= (p.Val1051=)
c.2584T=
c.3168T= (p.Val1056=)
c.1928T=
c.3348T= (p.Val1116=)
c.3282T= (p.Val1094=)
c.3342T= (p.Val1114=)
c.3288T= (p.Val1096=)
c.3213T= (p.Val1071=)
c.2808T= (p.Val936=)
c.2166T= (p.Val722=)
n.3591T=
10g.71709145G>ACA377143242CDH23c.3154G>A (p.Val1052Met)
c.2585G>A
c.3169G>A (p.Val1057Met)
c.1929G>A
c.3349G>A (p.Val1117Met)
c.3283G>A (p.Val1095Met)
c.3343G>A (p.Val1115Met)
c.3289G>A (p.Val1097Met)
c.3214G>A (p.Val1072Met)
c.2809G>A (p.Val937Met)
c.2167G>A (p.Val723Met)
n.3592G>A
10g.71709145G>CCA377143243CDH23c.3154G>C (p.Val1052Leu)
c.2585G>C
c.3169G>C (p.Val1057Leu)
c.1929G>C
c.3349G>C (p.Val1117Leu)
c.3283G>C (p.Val1095Leu)
c.3343G>C (p.Val1115Leu)
c.3289G>C (p.Val1097Leu)
c.3214G>C (p.Val1072Leu)
c.2809G>C (p.Val937Leu)
c.2167G>C (p.Val723Leu)
n.3592G>C
10g.71709145G>TCA377143245CDH23c.3154G>T (p.Val1052Leu)
c.2585G>T
c.3169G>T (p.Val1057Leu)
c.1929G>T
c.3349G>T (p.Val1117Leu)
c.3283G>T (p.Val1095Leu)
c.3343G>T (p.Val1115Leu)
c.3289G>T (p.Val1097Leu)
c.3214G>T (p.Val1072Leu)
c.2809G>T (p.Val937Leu)
c.2167G>T (p.Val723Leu)
n.3592G>T
10g.71709146T>ACA377143248CDH23c.3155T>A (p.Val1052Glu)
c.2586T>A
c.3170T>A (p.Val1057Glu)
c.1930T>A
c.3350T>A (p.Val1117Glu)
c.3284T>A (p.Val1095Glu)
c.3344T>A (p.Val1115Glu)
c.3290T>A (p.Val1097Glu)
c.3215T>A (p.Val1072Glu)
c.2810T>A (p.Val937Glu)
c.2168T>A (p.Val723Glu)
n.3593T>A
10g.71709146T>CCA377143249CDH23c.3155T>C (p.Val1052Ala)
c.2586T>C
c.3170T>C (p.Val1057Ala)
c.1930T>C
c.3350T>C (p.Val1117Ala)
c.3284T>C (p.Val1095Ala)
c.3344T>C (p.Val1115Ala)
c.3290T>C (p.Val1097Ala)
c.3215T>C (p.Val1072Ala)
c.2810T>C (p.Val937Ala)
c.2168T>C (p.Val723Ala)
n.3593T>C
10g.71709146T>GCA377143252CDH23c.3155T>G (p.Val1052Gly)
c.2586T>G
c.3170T>G (p.Val1057Gly)
c.1930T>G
c.3350T>G (p.Val1117Gly)
c.3284T>G (p.Val1095Gly)
c.3344T>G (p.Val1115Gly)
c.3290T>G (p.Val1097Gly)
c.3215T>G (p.Val1072Gly)
c.2810T>G (p.Val937Gly)
c.2168T>G (p.Val723Gly)
n.3593T>G
 gnomAD v4
10g.71709147G>ACA470062385CDH23c.3156G>A (p.Val1052=)
c.2587G>A
c.3171G>A (p.Val1057=)
c.1931G>A
c.3351G>A (p.Val1117=)
c.3285G>A (p.Val1095=)
c.3345G>A (p.Val1115=)
c.3291G>A (p.Val1097=)
c.3216G>A (p.Val1072=)
c.2811G>A (p.Val937=)
c.2169G>A (p.Val723=)
n.3594G>A
 gnomAD v4
10g.71709147G>CCA470062386CDH23c.3156G>C (p.Val1052=)
c.2587G>C
c.3171G>C (p.Val1057=)
c.1931G>C
c.3351G>C (p.Val1117=)
c.3285G>C (p.Val1095=)
c.3345G>C (p.Val1115=)
c.3291G>C (p.Val1097=)
c.3216G>C (p.Val1072=)
c.2811G>C (p.Val937=)
c.2169G>C (p.Val723=)
n.3594G>C
10g.71709147G>TCA470062387CDH23c.3156G>T (p.Val1052=)
c.2587G>T
c.3171G>T (p.Val1057=)
c.1931G>T
c.3351G>T (p.Val1117=)
c.3285G>T (p.Val1095=)
c.3345G>T (p.Val1115=)
c.3291G>T (p.Val1097=)
c.3216G>T (p.Val1072=)
c.2811G>T (p.Val937=)
c.2169G>T (p.Val723=)
n.3594G>T
10g.71709148A>CCA470062388CDH23c.3157A>C (p.Arg1053=)
c.2588A>C
c.3172A>C (p.Arg1058=)
c.1932A>C
c.3352A>C (p.Arg1118=)
c.3286A>C (p.Arg1096=)
c.3346A>C (p.Arg1116=)
c.3292A>C (p.Arg1098=)
c.3217A>C (p.Arg1073=)
c.2812A>C (p.Arg938=)
c.2170A>C (p.Arg724=)
n.3595A>C
 ClinVar
10g.71709148A>GCA377143259CDH23c.3157A>G (p.Arg1053Gly)
c.2588A>G
c.3172A>G (p.Arg1058Gly)
c.1932A>G
c.3352A>G (p.Arg1118Gly)
c.3286A>G (p.Arg1096Gly)
c.3346A>G (p.Arg1116Gly)
c.3292A>G (p.Arg1098Gly)
c.3217A>G (p.Arg1073Gly)
c.2812A>G (p.Arg938Gly)
c.2170A>G (p.Arg724Gly)
n.3595A>G
10g.71709148A>TCA377143262CDH23c.3157A>T (p.Arg1053Ter)
c.2588A>T
c.3172A>T (p.Arg1058Ter)
c.1932A>T
c.3352A>T (p.Arg1118Ter)
c.3286A>T (p.Arg1096Ter)
c.3346A>T (p.Arg1116Ter)
c.3292A>T (p.Arg1098Ter)
c.3217A>T (p.Arg1073Ter)
c.2812A>T (p.Arg938Ter)
c.2170A>T (p.Arg724Ter)
n.3595A>T
10g.71709149G>ACA377143264CDH23c.3158G>A (p.Arg1053Lys)
c.2589G>A
c.3173G>A (p.Arg1058Lys)
c.1933G>A
c.3353G>A (p.Arg1118Lys)
c.3287G>A (p.Arg1096Lys)
c.3347G>A (p.Arg1116Lys)
c.3293G>A (p.Arg1098Lys)
c.3218G>A (p.Arg1073Lys)
c.2813G>A (p.Arg938Lys)
c.2171G>A (p.Arg724Lys)
n.3596G>A
10g.71709149G>CCA377143265CDH23c.3158G>C (p.Arg1053Thr)
c.2589G>C
c.3173G>C (p.Arg1058Thr)
c.1933G>C
c.3353G>C (p.Arg1118Thr)
c.3287G>C (p.Arg1096Thr)
c.3347G>C (p.Arg1116Thr)
c.3293G>C (p.Arg1098Thr)
c.3218G>C (p.Arg1073Thr)
c.2813G>C (p.Arg938Thr)
c.2171G>C (p.Arg724Thr)
n.3596G>C
 gnomAD v4
10g.71709149G>TCA377143263CDH23c.3158G>T (p.Arg1053Ile)
c.2589G>T
c.3173G>T (p.Arg1058Ile)
c.1933G>T
c.3353G>T (p.Arg1118Ile)
c.3287G>T (p.Arg1096Ile)
c.3347G>T (p.Arg1116Ile)
c.3293G>T (p.Arg1098Ile)
c.3218G>T (p.Arg1073Ile)
c.2813G>T (p.Arg938Ile)
c.2171G>T (p.Arg724Ile)
n.3596G>T
10g.71709150A>CCA377143266CDH23c.3159A>C (p.Arg1053Ser)
c.2590A>C
c.3174A>C (p.Arg1058Ser)
c.1934A>C
c.3354A>C (p.Arg1118Ser)
c.3288A>C (p.Arg1096Ser)
c.3348A>C (p.Arg1116Ser)
c.3294A>C (p.Arg1098Ser)
c.3219A>C (p.Arg1073Ser)
c.2814A>C (p.Arg938Ser)
c.2172A>C (p.Arg724Ser)
n.3597A>C
10g.71709150A>GCA470062392CDH23c.3159A>G (p.Arg1053=)
c.2590A>G
c.3174A>G (p.Arg1058=)
c.1934A>G
c.3354A>G (p.Arg1118=)
c.3288A>G (p.Arg1096=)
c.3348A>G (p.Arg1116=)
c.3294A>G (p.Arg1098=)
c.3219A>G (p.Arg1073=)
c.2814A>G (p.Arg938=)
c.2172A>G (p.Arg724=)
n.3597A>G
10g.71709150A>TCA377143268CDH23c.3159A>T (p.Arg1053Ser)
c.2590A>T
c.3174A>T (p.Arg1058Ser)
c.1934A>T
c.3354A>T (p.Arg1118Ser)
c.3288A>T (p.Arg1096Ser)
c.3348A>T (p.Arg1116Ser)
c.3294A>T (p.Arg1098Ser)
c.3219A>T (p.Arg1073Ser)
c.2814A>T (p.Arg938Ser)
c.2172A>T (p.Arg724Ser)
n.3597A>T
10g.71709151A>CCA377143269CDH23c.3160A>C (p.Thr1054Pro)
c.2591A>C
c.3175A>C (p.Thr1059Pro)
c.1935A>C
c.3355A>C (p.Thr1119Pro)
c.3289A>C (p.Thr1097Pro)
c.3349A>C (p.Thr1117Pro)
c.3295A>C (p.Thr1099Pro)
c.3220A>C (p.Thr1074Pro)
c.2815A>C (p.Thr939Pro)
c.2173A>C (p.Thr725Pro)
n.3598A>C
10g.71709151A>GCA377143271CDH23c.3160A>G (p.Thr1054Ala)
c.2591A>G
c.3175A>G (p.Thr1059Ala)
c.1935A>G
c.3355A>G (p.Thr1119Ala)
c.3289A>G (p.Thr1097Ala)
c.3349A>G (p.Thr1117Ala)
c.3295A>G (p.Thr1099Ala)
c.3220A>G (p.Thr1074Ala)
c.2815A>G (p.Thr939Ala)
c.2173A>G (p.Thr725Ala)
n.3598A>G
10g.71709151A>TCA377143272CDH23c.3160A>T (p.Thr1054Ser)
c.2591A>T
c.3175A>T (p.Thr1059Ser)
c.1935A>T
c.3355A>T (p.Thr1119Ser)
c.3289A>T (p.Thr1097Ser)
c.3349A>T (p.Thr1117Ser)
c.3295A>T (p.Thr1099Ser)
c.3220A>T (p.Thr1074Ser)
c.2815A>T (p.Thr939Ser)
c.2173A>T (p.Thr725Ser)
n.3598A>T
10g.71709152C>ACA377143275CDH23c.3161C>A (p.Thr1054Asn)
c.2592C>A
c.3176C>A (p.Thr1059Asn)
c.1936C>A
c.3356C>A (p.Thr1119Asn)
c.3290C>A (p.Thr1097Asn)
c.3350C>A (p.Thr1117Asn)
c.3296C>A (p.Thr1099Asn)
c.3221C>A (p.Thr1074Asn)
c.2816C>A (p.Thr939Asn)
c.2174C>A (p.Thr725Asn)
n.3599C>A
10g.71709152C>GCA377143273CDH23c.3161C>G (p.Thr1054Ser)
c.2592C>G
c.3176C>G (p.Thr1059Ser)
c.1936C>G
c.3356C>G (p.Thr1119Ser)
c.3290C>G (p.Thr1097Ser)
c.3350C>G (p.Thr1117Ser)
c.3296C>G (p.Thr1099Ser)
c.3221C>G (p.Thr1074Ser)
c.2816C>G (p.Thr939Ser)
c.2174C>G (p.Thr725Ser)
n.3599C>G
10g.71709152C>TCA377143274CDH23c.3161C>T (p.Thr1054Ile)
c.2592C>T
c.3176C>T (p.Thr1059Ile)
c.1936C>T
c.3356C>T (p.Thr1119Ile)
c.3290C>T (p.Thr1097Ile)
c.3350C>T (p.Thr1117Ile)
c.3296C>T (p.Thr1099Ile)
c.3221C>T (p.Thr1074Ile)
c.2816C>T (p.Thr939Ile)
c.2174C>T (p.Thr725Ile)
n.3599C>T
10g.71709153C>ACA470062394CDH23c.3162C>A (p.Thr1054=)
c.2593C>A
c.3177C>A (p.Thr1059=)
c.1937C>A
c.3357C>A (p.Thr1119=)
c.3291C>A (p.Thr1097=)
c.3351C>A (p.Thr1117=)
c.3297C>A (p.Thr1099=)
c.3222C>A (p.Thr1074=)
c.2817C>A (p.Thr939=)
c.2175C>A (p.Thr725=)
n.3600C>A
 gnomAD v4 COSMIC COSMIC
10g.71709153C=CA1918840853CDH23c.3162C= (p.Thr1054=)
c.2593C=
c.3177C= (p.Thr1059=)
c.1937C=
c.3357C= (p.Thr1119=)
c.3291C= (p.Thr1097=)
c.3351C= (p.Thr1117=)
c.3297C= (p.Thr1099=)
c.3222C= (p.Thr1074=)
c.2817C= (p.Thr939=)
c.2175C= (p.Thr725=)
n.3600C=
10g.71709153C>GCA182066CDH23c.3162C>G (p.Thr1054=)
c.2593C>G
c.3177C>G (p.Thr1059=)
c.1937C>G
c.3357C>G (p.Thr1119=)
c.3291C>G (p.Thr1097=)
c.3351C>G (p.Thr1117=)
c.3297C>G (p.Thr1099=)
c.3222C>G (p.Thr1074=)
c.2817C>G (p.Thr939=)
c.2175C>G (p.Thr725=)
n.3600C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709153C>TCA5544498CDH23c.3162C>T (p.Thr1054=)
c.2593C>T
c.3177C>T (p.Thr1059=)
c.1937C>T
c.3357C>T (p.Thr1119=)
c.3291C>T (p.Thr1097=)
c.3351C>T (p.Thr1117=)
c.3297C>T (p.Thr1099=)
c.3222C>T (p.Thr1074=)
c.2817C>T (p.Thr939=)
c.2175C>T (p.Thr725=)
n.3600C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709154G>ACA5544499CDH23c.3163G>A (p.Val1055Met)
c.2594G>A
c.3178G>A (p.Val1060Met)
c.1938G>A
c.3358G>A (p.Val1120Met)
c.3292G>A (p.Val1098Met)
c.3352G>A (p.Val1118Met)
c.3298G>A (p.Val1100Met)
c.3223G>A (p.Val1075Met)
c.2818G>A (p.Val940Met)
c.2176G>A (p.Val726Met)
n.3601G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.71709154G>CCA377143278CDH23c.3163G>C (p.Val1055Leu)
c.2594G>C
c.3178G>C (p.Val1060Leu)
c.1938G>C
c.3358G>C (p.Val1120Leu)
c.3292G>C (p.Val1098Leu)
c.3352G>C (p.Val1118Leu)
c.3298G>C (p.Val1100Leu)
c.3223G>C (p.Val1075Leu)
c.2818G>C (p.Val940Leu)
c.2176G>C (p.Val726Leu)
n.3601G>C
 gnomAD v4
10g.71709154G=CA1918840863CDH23c.3163G= (p.Val1055=)
c.2594G=
c.3178G= (p.Val1060=)
c.1938G=
c.3358G= (p.Val1120=)
c.3292G= (p.Val1098=)
c.3352G= (p.Val1118=)
c.3298G= (p.Val1100=)
c.3223G= (p.Val1075=)
c.2818G= (p.Val940=)
c.2176G= (p.Val726=)
n.3601G=
10g.71709154G>TCA377143280CDH23c.3163G>T (p.Val1055Leu)
c.2594G>T
c.3178G>T (p.Val1060Leu)
c.1938G>T
c.3358G>T (p.Val1120Leu)
c.3292G>T (p.Val1098Leu)
c.3352G>T (p.Val1118Leu)
c.3298G>T (p.Val1100Leu)
c.3223G>T (p.Val1075Leu)
c.2818G>T (p.Val940Leu)
c.2176G>T (p.Val726Leu)
n.3601G>T
10g.71709155T>ACA377143281CDH23c.3164T>A (p.Val1055Glu)
c.2595T>A
c.3179T>A (p.Val1060Glu)
c.1939T>A
c.3359T>A (p.Val1120Glu)
c.3293T>A (p.Val1098Glu)
c.3353T>A (p.Val1118Glu)
c.3299T>A (p.Val1100Glu)
c.3224T>A (p.Val1075Glu)
c.2819T>A (p.Val940Glu)
c.2177T>A (p.Val726Glu)
n.3602T>A
10g.71709155T>CCA377143285CDH23c.3164T>C (p.Val1055Ala)
c.2595T>C
c.3179T>C (p.Val1060Ala)
c.1939T>C
c.3359T>C (p.Val1120Ala)
c.3293T>C (p.Val1098Ala)
c.3353T>C (p.Val1118Ala)
c.3299T>C (p.Val1100Ala)
c.3224T>C (p.Val1075Ala)
c.2819T>C (p.Val940Ala)
c.2177T>C (p.Val726Ala)
n.3602T>C
10g.71709155T>GCA377143283CDH23c.3164T>G (p.Val1055Gly)
c.2595T>G
c.3179T>G (p.Val1060Gly)
c.1939T>G
c.3359T>G (p.Val1120Gly)
c.3293T>G (p.Val1098Gly)
c.3353T>G (p.Val1118Gly)
c.3299T>G (p.Val1100Gly)
c.3224T>G (p.Val1075Gly)
c.2819T>G (p.Val940Gly)
c.2177T>G (p.Val726Gly)
n.3602T>G
10g.71709156G>ACA5544500CDH23c.3165G>A (p.Val1055=)
c.2596G>A
c.3180G>A (p.Val1060=)
c.1940G>A
c.3360G>A (p.Val1120=)
c.3294G>A (p.Val1098=)
c.3354G>A (p.Val1118=)
c.3300G>A (p.Val1100=)
c.3225G>A (p.Val1075=)
c.2820G>A (p.Val940=)
c.2178G>A (p.Val726=)
n.3603G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709156G>CCA470062395CDH23c.3165G>C (p.Val1055=)
c.2596G>C
c.3180G>C (p.Val1060=)
c.1940G>C
c.3360G>C (p.Val1120=)
c.3294G>C (p.Val1098=)
c.3354G>C (p.Val1118=)
c.3300G>C (p.Val1100=)
c.3225G>C (p.Val1075=)
c.2820G>C (p.Val940=)
c.2178G>C (p.Val726=)
n.3603G>C
10g.71709156G=CA1918840868CDH23c.3165G= (p.Val1055=)
c.2596G=
c.3180G= (p.Val1060=)
c.1940G=
c.3360G= (p.Val1120=)
c.3294G= (p.Val1098=)
c.3354G= (p.Val1118=)
c.3300G= (p.Val1100=)
c.3225G= (p.Val1075=)
c.2820G= (p.Val940=)
c.2178G= (p.Val726=)
n.3603G=
10g.71709156G>TCA470062396CDH23c.3165G>T (p.Val1055=)
c.2596G>T
c.3180G>T (p.Val1060=)
c.1940G>T
c.3360G>T (p.Val1120=)
c.3294G>T (p.Val1098=)
c.3354G>T (p.Val1118=)
c.3300G>T (p.Val1100=)
c.3225G>T (p.Val1075=)
c.2820G>T (p.Val940=)
c.2178G>T (p.Val726=)
n.3603G>T
10g.71709157G>ACA377143287CDH23c.3166G>A (p.Val1056Met)
c.2597G>A
c.3181G>A (p.Val1061Met)
c.1941G>A
c.3361G>A (p.Val1121Met)
c.3295G>A (p.Val1099Met)
c.3355G>A (p.Val1119Met)
c.3301G>A (p.Val1101Met)
c.3226G>A (p.Val1076Met)
c.2821G>A (p.Val941Met)
c.2179G>A (p.Val727Met)
n.3604G>A
10g.71709157G>CCA377143286CDH23c.3166G>C (p.Val1056Leu)
c.2597G>C
c.3181G>C (p.Val1061Leu)
c.1941G>C
c.3361G>C (p.Val1121Leu)
c.3295G>C (p.Val1099Leu)
c.3355G>C (p.Val1119Leu)
c.3301G>C (p.Val1101Leu)
c.3226G>C (p.Val1076Leu)
c.2821G>C (p.Val941Leu)
c.2179G>C (p.Val727Leu)
n.3604G>C
10g.71709157G>TCA377143288CDH23c.3166G>T (p.Val1056Leu)
c.2597G>T
c.3181G>T (p.Val1061Leu)
c.1941G>T
c.3361G>T (p.Val1121Leu)
c.3295G>T (p.Val1099Leu)
c.3355G>T (p.Val1119Leu)
c.3301G>T (p.Val1101Leu)
c.3226G>T (p.Val1076Leu)
c.2821G>T (p.Val941Leu)
c.2179G>T (p.Val727Leu)
n.3604G>T
10g.71709158T>ACA377143290CDH23c.3167T>A (p.Val1056Glu)
c.2598T>A
c.3182T>A (p.Val1061Glu)
c.1942T>A
c.3362T>A (p.Val1121Glu)
c.3296T>A (p.Val1099Glu)
c.3356T>A (p.Val1119Glu)
c.3302T>A (p.Val1101Glu)
c.3227T>A (p.Val1076Glu)
c.2822T>A (p.Val941Glu)
c.2180T>A (p.Val727Glu)
n.3605T>A
10g.71709158T>CCA377143293CDH23c.3167T>C (p.Val1056Ala)
c.2598T>C
c.3182T>C (p.Val1061Ala)
c.1942T>C
c.3362T>C (p.Val1121Ala)
c.3296T>C (p.Val1099Ala)
c.3356T>C (p.Val1119Ala)
c.3302T>C (p.Val1101Ala)
c.3227T>C (p.Val1076Ala)
c.2822T>C (p.Val941Ala)
c.2180T>C (p.Val727Ala)
n.3605T>C
10g.71709158T>GCA377143292CDH23c.3167T>G (p.Val1056Gly)
c.2598T>G
c.3182T>G (p.Val1061Gly)
c.1942T>G
c.3362T>G (p.Val1121Gly)
c.3296T>G (p.Val1099Gly)
c.3356T>G (p.Val1119Gly)
c.3302T>G (p.Val1101Gly)
c.3227T>G (p.Val1076Gly)
c.2822T>G (p.Val941Gly)
c.2180T>G (p.Val727Gly)
n.3605T>G
10g.71709159G>ACA470062397CDH23c.3168G>A (p.Val1056=)
c.2599G>A
c.3183G>A (p.Val1061=)
c.1943G>A
c.3363G>A (p.Val1121=)
c.3297G>A (p.Val1099=)
c.3357G>A (p.Val1119=)
c.3303G>A (p.Val1101=)
c.3228G>A (p.Val1076=)
c.2823G>A (p.Val941=)
c.2181G>A (p.Val727=)
n.3606G>A
 ClinVar dbSNP
10g.71709159G>CCA470062398CDH23c.3168G>C (p.Val1056=)
c.2599G>C
c.3183G>C (p.Val1061=)
c.1943G>C
c.3363G>C (p.Val1121=)
c.3297G>C (p.Val1099=)
c.3357G>C (p.Val1119=)
c.3303G>C (p.Val1101=)
c.3228G>C (p.Val1076=)
c.2823G>C (p.Val941=)
c.2181G>C (p.Val727=)
n.3606G>C
10g.71709159G=CA1918840872CDH23c.3168G= (p.Val1056=)
c.2599G=
c.3183G= (p.Val1061=)
c.1943G=
c.3363G= (p.Val1121=)
c.3297G= (p.Val1099=)
c.3357G= (p.Val1119=)
c.3303G= (p.Val1101=)
c.3228G= (p.Val1076=)
c.2823G= (p.Val941=)
c.2181G= (p.Val727=)
n.3606G=
10g.71709159G>TCA470062399CDH23c.3168G>T (p.Val1056=)
c.2599G>T
c.3183G>T (p.Val1061=)
c.1943G>T
c.3363G>T (p.Val1121=)
c.3297G>T (p.Val1099=)
c.3357G>T (p.Val1119=)
c.3303G>T (p.Val1101=)
c.3228G>T (p.Val1076=)
c.2823G>T (p.Val941=)
c.2181G>T (p.Val727=)
n.3606G>T
10g.71709160G>ACA377143294CDH23c.3169G>A (p.Gly1057Ser)
c.2600G>A
c.3184G>A (p.Gly1062Ser)
c.1944G>A
c.3364G>A (p.Gly1122Ser)
c.3298G>A (p.Gly1100Ser)
c.3358G>A (p.Gly1120Ser)
c.3304G>A (p.Gly1102Ser)
c.3229G>A (p.Gly1077Ser)
c.2824G>A (p.Gly942Ser)
c.2182G>A (p.Gly728Ser)
n.3607G>A
10g.71709160G>CCA377143297CDH23c.3169G>C (p.Gly1057Arg)
c.2600G>C
c.3184G>C (p.Gly1062Arg)
c.1944G>C
c.3364G>C (p.Gly1122Arg)
c.3298G>C (p.Gly1100Arg)
c.3358G>C (p.Gly1120Arg)
c.3304G>C (p.Gly1102Arg)
c.3229G>C (p.Gly1077Arg)
c.2824G>C (p.Gly942Arg)
c.2182G>C (p.Gly728Arg)
n.3607G>C
 ClinVar dbSNP
10g.71709160G>TCA377143295CDH23c.3169G>T (p.Gly1057Cys)
c.2600G>T
c.3184G>T (p.Gly1062Cys)
c.1944G>T
c.3364G>T (p.Gly1122Cys)
c.3298G>T (p.Gly1100Cys)
c.3358G>T (p.Gly1120Cys)
c.3304G>T (p.Gly1102Cys)
c.3229G>T (p.Gly1077Cys)
c.2824G>T (p.Gly942Cys)
c.2182G>T (p.Gly728Cys)
n.3607G>T
10g.71709168_71709169insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGACCA2741106608CDH23c.3177_3178insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1059_Arg1060insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.2608_2609insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC
c.3192_3193insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1064_Arg1065insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.1952_1953insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC
c.3372_3373insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1124_Arg1125insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.3306_3307insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1102_Arg1103insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.3366_3367insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1122_Arg1123insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.3312_3313insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1104_Arg1105insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.3237_3238insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp1079_Arg1080insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.2832_2833insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp944_Arg945insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
c.2190_2191insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC (p.Asp730_Arg731insSerAlaAlaAspLeuAlaValLeuLysIleAsnProSerGlyLeuAsp)
n.3615_3616insTCTGCCGCTGACCTGGCGGTCCTGAAGATTAACCCCTCCGGCCTGGAC
10g.71709161G>ACA377143298CDH23c.3170G>A (p.Gly1057Asp)
c.2601G>A
c.3185G>A (p.Gly1062Asp)
c.1945G>A
c.3365G>A (p.Gly1122Asp)
c.3299G>A (p.Gly1100Asp)
c.3359G>A (p.Gly1120Asp)
c.3305G>A (p.Gly1102Asp)
c.3230G>A (p.Gly1077Asp)
c.2825G>A (p.Gly942Asp)
c.2183G>A (p.Gly728Asp)
n.3608G>A
 ClinVar gnomAD v4 COSMIC COSMIC
10g.71709161G>CCA5544501CDH23c.3170G>C (p.Gly1057Ala)
c.2601G>C
c.3185G>C (p.Gly1062Ala)
c.1945G>C
c.3365G>C (p.Gly1122Ala)
c.3299G>C (p.Gly1100Ala)
c.3359G>C (p.Gly1120Ala)
c.3305G>C (p.Gly1102Ala)
c.3230G>C (p.Gly1077Ala)
c.2825G>C (p.Gly942Ala)
c.2183G>C (p.Gly728Ala)
n.3608G>C
 dbSNP ExAC
10g.71709161G=CA1918840881CDH23c.3170G= (p.Gly1057=)
c.2601G=
c.3185G= (p.Gly1062=)
c.1945G=
c.3365G= (p.Gly1122=)
c.3299G= (p.Gly1100=)
c.3359G= (p.Gly1120=)
c.3305G= (p.Gly1102=)
c.3230G= (p.Gly1077=)
c.2825G= (p.Gly942=)
c.2183G= (p.Gly728=)
n.3608G=
10g.71709161G>TCA377143300CDH23c.3170G>T (p.Gly1057Val)
c.2601G>T
c.3185G>T (p.Gly1062Val)
c.1945G>T
c.3365G>T (p.Gly1122Val)
c.3299G>T (p.Gly1100Val)
c.3359G>T (p.Gly1120Val)
c.3305G>T (p.Gly1102Val)
c.3230G>T (p.Gly1077Val)
c.2825G>T (p.Gly942Val)
c.2183G>T (p.Gly728Val)
n.3608G>T
10g.71709162C>ACA470062400CDH23c.3171C>A (p.Gly1057=)
c.2602C>A
c.3186C>A (p.Gly1062=)
c.1946C>A
c.3366C>A (p.Gly1122=)
c.3300C>A (p.Gly1100=)
c.3360C>A (p.Gly1120=)
c.3306C>A (p.Gly1102=)
c.3231C>A (p.Gly1077=)
c.2826C>A (p.Gly942=)
c.2184C>A (p.Gly728=)
n.3609C>A
10g.71709162C>GCA470062401CDH23c.3171C>G (p.Gly1057=)
c.2602C>G
c.3186C>G (p.Gly1062=)
c.1946C>G
c.3366C>G (p.Gly1122=)
c.3300C>G (p.Gly1100=)
c.3360C>G (p.Gly1120=)
c.3306C>G (p.Gly1102=)
c.3231C>G (p.Gly1077=)
c.2826C>G (p.Gly942=)
c.2184C>G (p.Gly728=)
n.3609C>G
10g.71709162C>TCA470062402CDH23c.3171C>T (p.Gly1057=)
c.2602C>T
c.3186C>T (p.Gly1062=)
c.1946C>T
c.3366C>T (p.Gly1122=)
c.3300C>T (p.Gly1100=)
c.3360C>T (p.Gly1120=)
c.3306C>T (p.Gly1102=)
c.3231C>T (p.Gly1077=)
c.2826C>T (p.Gly942=)
c.2184C>T (p.Gly728=)
n.3609C>T
 ClinVar
10g.71709163C>ACA377143301CDH23c.3172C>A (p.Leu1058Met)
c.2603C>A
c.3187C>A (p.Leu1063Met)
c.1947C>A
c.3367C>A (p.Leu1123Met)
c.3301C>A (p.Leu1101Met)
c.3361C>A (p.Leu1121Met)
c.3307C>A (p.Leu1103Met)
c.3232C>A (p.Leu1078Met)
c.2827C>A (p.Leu943Met)
c.2185C>A (p.Leu729Met)
n.3610C>A
10g.71709163C=CA1918840883CDH23c.3172C= (p.Leu1058=)
c.2603C=
c.3187C= (p.Leu1063=)
c.1947C=
c.3367C= (p.Leu1123=)
c.3301C= (p.Leu1101=)
c.3361C= (p.Leu1121=)
c.3307C= (p.Leu1103=)
c.3232C= (p.Leu1078=)
c.2827C= (p.Leu943=)
c.2185C= (p.Leu729=)
n.3610C=
10g.71709163C>GCA242794CDH23c.3172C>G (p.Leu1058Val)
c.2603C>G
c.3187C>G (p.Leu1063Val)
c.1947C>G
c.3367C>G (p.Leu1123Val)
c.3301C>G (p.Leu1101Val)
c.3361C>G (p.Leu1121Val)
c.3307C>G (p.Leu1103Val)
c.3232C>G (p.Leu1078Val)
c.2827C>G (p.Leu943Val)
c.2185C>G (p.Leu729Val)
n.3610C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709163C>TCA470062403CDH23c.3172C>T (p.Leu1058=)
c.2603C>T
c.3187C>T (p.Leu1063=)
c.1947C>T
c.3367C>T (p.Leu1123=)
c.3301C>T (p.Leu1101=)
c.3361C>T (p.Leu1121=)
c.3307C>T (p.Leu1103=)
c.3232C>T (p.Leu1078=)
c.2827C>T (p.Leu943=)
c.2185C>T (p.Leu729=)
n.3610C>T
10g.71709164T>ACA377143304CDH23c.3173T>A (p.Leu1058Gln)
c.2604T>A
c.3188T>A (p.Leu1063Gln)
c.1948T>A
c.3368T>A (p.Leu1123Gln)
c.3302T>A (p.Leu1101Gln)
c.3362T>A (p.Leu1121Gln)
c.3308T>A (p.Leu1103Gln)
c.3233T>A (p.Leu1078Gln)
c.2828T>A (p.Leu943Gln)
c.2186T>A (p.Leu729Gln)
n.3611T>A
 gnomAD v4
10g.71709164T>CCA377143307CDH23c.3173T>C (p.Leu1058Pro)
c.2604T>C
c.3188T>C (p.Leu1063Pro)
c.1948T>C
c.3368T>C (p.Leu1123Pro)
c.3302T>C (p.Leu1101Pro)
c.3362T>C (p.Leu1121Pro)
c.3308T>C (p.Leu1103Pro)
c.3233T>C (p.Leu1078Pro)
c.2828T>C (p.Leu943Pro)
c.2186T>C (p.Leu729Pro)
n.3611T>C
 dbSNP gnomAD v2
10g.71709164T>GCA377143306CDH23c.3173T>G (p.Leu1058Arg)
c.2604T>G
c.3188T>G (p.Leu1063Arg)
c.1948T>G
c.3368T>G (p.Leu1123Arg)
c.3302T>G (p.Leu1101Arg)
c.3362T>G (p.Leu1121Arg)
c.3308T>G (p.Leu1103Arg)
c.3233T>G (p.Leu1078Arg)
c.2828T>G (p.Leu943Arg)
c.2186T>G (p.Leu729Arg)
n.3611T>G
10g.71709164T=CA1918840889CDH23c.3173T= (p.Leu1058=)
c.2604T=
c.3188T= (p.Leu1063=)
c.1948T=
c.3368T= (p.Leu1123=)
c.3302T= (p.Leu1101=)
c.3362T= (p.Leu1121=)
c.3308T= (p.Leu1103=)
c.3233T= (p.Leu1078=)
c.2828T= (p.Leu943=)
c.2186T= (p.Leu729=)
n.3611T=
10g.71709165G>ACA470062404CDH23c.3174G>A (p.Leu1058=)
c.2605G>A
c.3189G>A (p.Leu1063=)
c.1949G>A
c.3369G>A (p.Leu1123=)
c.3303G>A (p.Leu1101=)
c.3363G>A (p.Leu1121=)
c.3309G>A (p.Leu1103=)
c.3234G>A (p.Leu1078=)
c.2829G>A (p.Leu943=)
c.2187G>A (p.Leu729=)
n.3612G>A
10g.71709165G>CCA470062405CDH23c.3174G>C (p.Leu1058=)
c.2605G>C
c.3189G>C (p.Leu1063=)
c.1949G>C
c.3369G>C (p.Leu1123=)
c.3303G>C (p.Leu1101=)
c.3363G>C (p.Leu1121=)
c.3309G>C (p.Leu1103=)
c.3234G>C (p.Leu1078=)
c.2829G>C (p.Leu943=)
c.2187G>C (p.Leu729=)
n.3612G>C
10g.71709165G>TCA470062406CDH23c.3174G>T (p.Leu1058=)
c.2605G>T
c.3189G>T (p.Leu1063=)
c.1949G>T
c.3369G>T (p.Leu1123=)
c.3303G>T (p.Leu1101=)
c.3363G>T (p.Leu1121=)
c.3309G>T (p.Leu1103=)
c.3234G>T (p.Leu1078=)
c.2829G>T (p.Leu943=)
c.2187G>T (p.Leu729=)
n.3612G>T
10g.71709166G>ACA377143309CDH23c.3175G>A (p.Asp1059Asn)
c.2606G>A
c.3190G>A (p.Asp1064Asn)
c.1950G>A
c.3370G>A (p.Asp1124Asn)
c.3304G>A (p.Asp1102Asn)
c.3364G>A (p.Asp1122Asn)
c.3310G>A (p.Asp1104Asn)
c.3235G>A (p.Asp1079Asn)
c.2830G>A (p.Asp944Asn)
c.2188G>A (p.Asp730Asn)
n.3613G>A
 gnomAD v4
10g.71709166G>CCA377143310CDH23c.3175G>C (p.Asp1059His)
c.2606G>C
c.3190G>C (p.Asp1064His)
c.1950G>C
c.3370G>C (p.Asp1124His)
c.3304G>C (p.Asp1102His)
c.3364G>C (p.Asp1122His)
c.3310G>C (p.Asp1104His)
c.3235G>C (p.Asp1079His)
c.2830G>C (p.Asp944His)
c.2188G>C (p.Asp730His)
n.3613G>C
 dbSNP gnomAD v2 gnomAD v4
10g.71709166G=CA1918840894CDH23c.3175G= (p.Asp1059=)
c.2606G=
c.3190G= (p.Asp1064=)
c.1950G=
c.3370G= (p.Asp1124=)
c.3304G= (p.Asp1102=)
c.3364G= (p.Asp1122=)
c.3310G= (p.Asp1104=)
c.3235G= (p.Asp1079=)
c.2830G= (p.Asp944=)
c.2188G= (p.Asp730=)
n.3613G=
10g.71709166G>TCA377143311CDH23c.3175G>T (p.Asp1059Tyr)
c.2606G>T
c.3190G>T (p.Asp1064Tyr)
c.1950G>T
c.3370G>T (p.Asp1124Tyr)
c.3304G>T (p.Asp1102Tyr)
c.3364G>T (p.Asp1122Tyr)
c.3310G>T (p.Asp1104Tyr)
c.3235G>T (p.Asp1079Tyr)
c.2830G>T (p.Asp944Tyr)
c.2188G>T (p.Asp730Tyr)
n.3613G>T
10g.71709167A=CA1918840900CDH23c.3176A= (p.Asp1059=)
c.2607A=
c.3191A= (p.Asp1064=)
c.1951A=
c.3371A= (p.Asp1124=)
c.3305A= (p.Asp1102=)
c.3365A= (p.Asp1122=)
c.3311A= (p.Asp1104=)
c.3236A= (p.Asp1079=)
c.2831A= (p.Asp944=)
c.2189A= (p.Asp730=)
n.3614A=
10g.71709167A>CCA377143313CDH23c.3176A>C (p.Asp1059Ala)
c.2607A>C
c.3191A>C (p.Asp1064Ala)
c.1951A>C
c.3371A>C (p.Asp1124Ala)
c.3305A>C (p.Asp1102Ala)
c.3365A>C (p.Asp1122Ala)
c.3311A>C (p.Asp1104Ala)
c.3236A>C (p.Asp1079Ala)
c.2831A>C (p.Asp944Ala)
c.2189A>C (p.Asp730Ala)
n.3614A>C
10g.71709167A>GCA377143315CDH23c.3176A>G (p.Asp1059Gly)
c.2607A>G
c.3191A>G (p.Asp1064Gly)
c.1951A>G
c.3371A>G (p.Asp1124Gly)
c.3305A>G (p.Asp1102Gly)
c.3365A>G (p.Asp1122Gly)
c.3311A>G (p.Asp1104Gly)
c.3236A>G (p.Asp1079Gly)
c.2831A>G (p.Asp944Gly)
c.2189A>G (p.Asp730Gly)
n.3614A>G
10g.71709167A>TCA377143317CDH23c.3176A>T (p.Asp1059Val)
c.2607A>T
c.3191A>T (p.Asp1064Val)
c.1951A>T
c.3371A>T (p.Asp1124Val)
c.3305A>T (p.Asp1102Val)
c.3365A>T (p.Asp1122Val)
c.3311A>T (p.Asp1104Val)
c.3236A>T (p.Asp1079Val)
c.2831A>T (p.Asp944Val)
c.2189A>T (p.Asp730Val)
n.3614A>T
 ClinVar dbSNP
10g.71709168C>ACA377143318CDH23c.3177C>A (p.Asp1059Glu)
c.2608C>A
c.3192C>A (p.Asp1064Glu)
c.1952C>A
c.3372C>A (p.Asp1124Glu)
c.3306C>A (p.Asp1102Glu)
c.3366C>A (p.Asp1122Glu)
c.3312C>A (p.Asp1104Glu)
c.3237C>A (p.Asp1079Glu)
c.2832C>A (p.Asp944Glu)
c.2190C>A (p.Asp730Glu)
n.3615C>A
10g.71709168C=CA1918840903CDH23c.3177C= (p.Asp1059=)
c.2608C=
c.3192C= (p.Asp1064=)
c.1952C=
c.3372C= (p.Asp1124=)
c.3306C= (p.Asp1102=)
c.3366C= (p.Asp1122=)
c.3312C= (p.Asp1104=)
c.3237C= (p.Asp1079=)
c.2832C= (p.Asp944=)
c.2190C= (p.Asp730=)
n.3615C=
10g.71709168C>GCA377143319CDH23c.3177C>G (p.Asp1059Glu)
c.2608C>G
c.3192C>G (p.Asp1064Glu)
c.1952C>G
c.3372C>G (p.Asp1124Glu)
c.3306C>G (p.Asp1102Glu)
c.3366C>G (p.Asp1122Glu)
c.3312C>G (p.Asp1104Glu)
c.3237C>G (p.Asp1079Glu)
c.2832C>G (p.Asp944Glu)
c.2190C>G (p.Asp730Glu)
n.3615C>G
10g.71709168C>TCA470062407CDH23c.3177C>T (p.Asp1059=)
c.2608C>T
c.3192C>T (p.Asp1064=)
c.1952C>T
c.3372C>T (p.Asp1124=)
c.3306C>T (p.Asp1102=)
c.3366C>T (p.Asp1122=)
c.3312C>T (p.Asp1104=)
c.3237C>T (p.Asp1079=)
c.2832C>T (p.Asp944=)
c.2190C>T (p.Asp730=)
n.3615C>T
 ClinVar dbSNP
10g.71709169C>ACA209462174CDH23c.3178C>A (p.Arg1060=)
c.2609C>A
c.3193C>A (p.Arg1065=)
c.1953C>A
c.3373C>A (p.Arg1125=)
c.3307C>A (p.Arg1103=)
c.3367C>A (p.Arg1123=)
c.3313C>A (p.Arg1105=)
c.3238C>A (p.Arg1080=)
c.2833C>A (p.Arg945=)
c.2191C>A (p.Arg731=)
n.3616C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71709169C=CA1918840907CDH23c.3178C= (p.Arg1060=)
c.2609C=
c.3193C= (p.Arg1065=)
c.1953C=
c.3373C= (p.Arg1125=)
c.3307C= (p.Arg1103=)
c.3367C= (p.Arg1123=)
c.3313C= (p.Arg1105=)
c.3238C= (p.Arg1080=)
c.2833C= (p.Arg945=)
c.2191C= (p.Arg731=)
n.3616C=
10g.71709169C>GCA377143320CDH23c.3178C>G (p.Arg1060Gly)
c.2609C>G
c.3193C>G (p.Arg1065Gly)
c.1953C>G
c.3373C>G (p.Arg1125Gly)
c.3307C>G (p.Arg1103Gly)
c.3367C>G (p.Arg1123Gly)
c.3313C>G (p.Arg1105Gly)
c.3238C>G (p.Arg1080Gly)
c.2833C>G (p.Arg945Gly)
c.2191C>G (p.Arg731Gly)
n.3616C>G
 gnomAD v4
10g.71709169C>TCA5544502CDH23c.3178C>T (p.Arg1060Trp)
c.2609C>T
c.3193C>T (p.Arg1065Trp)
c.1953C>T
c.3373C>T (p.Arg1125Trp)
c.3307C>T (p.Arg1103Trp)
c.3367C>T (p.Arg1123Trp)
c.3313C>T (p.Arg1105Trp)
c.3238C>T (p.Arg1080Trp)
c.2833C>T (p.Arg945Trp)
c.2191C>T (p.Arg731Trp)
n.3616C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709170G>ACA5544503CDH23c.3179G>A (p.Arg1060Gln)
c.2610G>A
c.3194G>A (p.Arg1065Gln)
c.1954G>A
c.3374G>A (p.Arg1125Gln)
c.3308G>A (p.Arg1103Gln)
c.3368G>A (p.Arg1123Gln)
c.3314G>A (p.Arg1105Gln)
c.3239G>A (p.Arg1080Gln)
c.2834G>A (p.Arg945Gln)
c.2192G>A (p.Arg731Gln)
n.3617G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709170G>CCA5544504CDH23c.3179G>C (p.Arg1060Pro)
c.2610G>C
c.3194G>C (p.Arg1065Pro)
c.1954G>C
c.3374G>C (p.Arg1125Pro)
c.3308G>C (p.Arg1103Pro)
c.3368G>C (p.Arg1123Pro)
c.3314G>C (p.Arg1105Pro)
c.3239G>C (p.Arg1080Pro)
c.2834G>C (p.Arg945Pro)
c.2192G>C (p.Arg731Pro)
n.3617G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709170G=CA1918840914CDH23c.3179G= (p.Arg1060=)
c.2610G=
c.3194G= (p.Arg1065=)
c.1954G=
c.3374G= (p.Arg1125=)
c.3308G= (p.Arg1103=)
c.3368G= (p.Arg1123=)
c.3314G= (p.Arg1105=)
c.3239G= (p.Arg1080=)
c.2834G= (p.Arg945=)
c.2192G= (p.Arg731=)
n.3617G=
10g.71709170G>TCA377143323CDH23c.3179G>T (p.Arg1060Leu)
c.2610G>T
c.3194G>T (p.Arg1065Leu)
c.1954G>T
c.3374G>T (p.Arg1125Leu)
c.3308G>T (p.Arg1103Leu)
c.3368G>T (p.Arg1123Leu)
c.3314G>T (p.Arg1105Leu)
c.3239G>T (p.Arg1080Leu)
c.2834G>T (p.Arg945Leu)
c.2192G>T (p.Arg731Leu)
n.3617G>T
 gnomAD v4 COSMIC
10g.71709171G>ACA470062408CDH23c.3180G>A (p.Arg1060=)
c.2611G>A
c.3195G>A (p.Arg1065=)
c.1955G>A
c.3375G>A (p.Arg1125=)
c.3309G>A (p.Arg1103=)
c.3369G>A (p.Arg1123=)
c.3315G>A (p.Arg1105=)
c.3240G>A (p.Arg1080=)
c.2835G>A (p.Arg945=)
c.2193G>A (p.Arg731=)
n.3618G>A
10g.71709171G>CCA470062409CDH23c.3180G>C (p.Arg1060=)
c.2611G>C
c.3195G>C (p.Arg1065=)
c.1955G>C
c.3375G>C (p.Arg1125=)
c.3309G>C (p.Arg1103=)
c.3369G>C (p.Arg1123=)
c.3315G>C (p.Arg1105=)
c.3240G>C (p.Arg1080=)
c.2835G>C (p.Arg945=)
c.2193G>C (p.Arg731=)
n.3618G>C
10g.71709171G>TCA470062410CDH23c.3180G>T (p.Arg1060=)
c.2611G>T
c.3195G>T (p.Arg1065=)
c.1955G>T
c.3375G>T (p.Arg1125=)
c.3309G>T (p.Arg1103=)
c.3369G>T (p.Arg1123=)
c.3315G>T (p.Arg1105=)
c.3240G>T (p.Arg1080=)
c.2835G>T (p.Arg945=)
c.2193G>T (p.Arg731=)
n.3618G>T
10g.71709172G>ACA16609571CDH23c.3181G>A (p.Glu1061Lys)
c.2612G>A
c.3196G>A (p.Glu1066Lys)
c.1956G>A
c.3376G>A (p.Glu1126Lys)
c.3310G>A (p.Glu1104Lys)
c.3370G>A (p.Glu1124Lys)
c.3316G>A (p.Glu1106Lys)
c.3241G>A (p.Glu1081Lys)
c.2836G>A (p.Glu946Lys)
c.2194G>A (p.Glu732Lys)
n.3619G>A
 ClinVar dbSNP
10g.71709172G>CCA377143326CDH23c.3181G>C (p.Glu1061Gln)
c.2612G>C
c.3196G>C (p.Glu1066Gln)
c.1956G>C
c.3376G>C (p.Glu1126Gln)
c.3310G>C (p.Glu1104Gln)
c.3370G>C (p.Glu1124Gln)
c.3316G>C (p.Glu1106Gln)
c.3241G>C (p.Glu1081Gln)
c.2836G>C (p.Glu946Gln)
c.2194G>C (p.Glu732Gln)
n.3619G>C
10g.71709172G=CA1918840924CDH23c.3181G= (p.Glu1061=)
c.2612G=
c.3196G= (p.Glu1066=)
c.1956G=
c.3376G= (p.Glu1126=)
c.3310G= (p.Glu1104=)
c.3370G= (p.Glu1124=)
c.3316G= (p.Glu1106=)
c.3241G= (p.Glu1081=)
c.2836G= (p.Glu946=)
c.2194G= (p.Glu732=)
n.3619G=
10g.71709172G>TCA377143328CDH23c.3181G>T (p.Glu1061Ter)
c.2612G>T
c.3196G>T (p.Glu1066Ter)
c.1956G>T
c.3376G>T (p.Glu1126Ter)
c.3310G>T (p.Glu1104Ter)
c.3370G>T (p.Glu1124Ter)
c.3316G>T (p.Glu1106Ter)
c.3241G>T (p.Glu1081Ter)
c.2836G>T (p.Glu946Ter)
c.2194G>T (p.Glu732Ter)
n.3619G>T
10g.71709173A>CCA377143329CDH23c.3182A>C (p.Glu1061Ala)
c.2613A>C
c.3197A>C (p.Glu1066Ala)
c.1957A>C
c.3377A>C (p.Glu1126Ala)
c.3311A>C (p.Glu1104Ala)
c.3371A>C (p.Glu1124Ala)
c.3317A>C (p.Glu1106Ala)
c.3242A>C (p.Glu1081Ala)
c.2837A>C (p.Glu946Ala)
c.2195A>C (p.Glu732Ala)
n.3620A>C
10g.71709173A>GCA377143330CDH23c.3182A>G (p.Glu1061Gly)
c.2613A>G
c.3197A>G (p.Glu1066Gly)
c.1957A>G
c.3377A>G (p.Glu1126Gly)
c.3311A>G (p.Glu1104Gly)
c.3371A>G (p.Glu1124Gly)
c.3317A>G (p.Glu1106Gly)
c.3242A>G (p.Glu1081Gly)
c.2837A>G (p.Glu946Gly)
c.2195A>G (p.Glu732Gly)
n.3620A>G
10g.71709173A>TCA377143332CDH23c.3182A>T (p.Glu1061Val)
c.2613A>T
c.3197A>T (p.Glu1066Val)
c.1957A>T
c.3377A>T (p.Glu1126Val)
c.3311A>T (p.Glu1104Val)
c.3371A>T (p.Glu1124Val)
c.3317A>T (p.Glu1106Val)
c.3242A>T (p.Glu1081Val)
c.2837A>T (p.Glu946Val)
c.2195A>T (p.Glu732Val)
n.3620A>T
10g.71709174G>ACA470062411CDH23c.3183G>A (p.Glu1061=)
c.2614G>A
c.3198G>A (p.Glu1066=)
c.1958G>A
c.3378G>A (p.Glu1126=)
c.3312G>A (p.Glu1104=)
c.3372G>A (p.Glu1124=)
c.3318G>A (p.Glu1106=)
c.3243G>A (p.Glu1081=)
c.2838G>A (p.Glu946=)
c.2196G>A (p.Glu732=)
n.3621G>A
10g.71709174G>CCA5544505CDH23c.3183G>C (p.Glu1061Asp)
c.2614G>C
c.3198G>C (p.Glu1066Asp)
c.1958G>C
c.3378G>C (p.Glu1126Asp)
c.3312G>C (p.Glu1104Asp)
c.3372G>C (p.Glu1124Asp)
c.3318G>C (p.Glu1106Asp)
c.3243G>C (p.Glu1081Asp)
c.2838G>C (p.Glu946Asp)
c.2196G>C (p.Glu732Asp)
n.3621G>C
 ClinVar dbSNP ExAC gnomAD v2
10g.71709174G=CA1918840930CDH23c.3183G= (p.Glu1061=)
c.2614G=
c.3198G= (p.Glu1066=)
c.1958G=
c.3378G= (p.Glu1126=)
c.3312G= (p.Glu1104=)
c.3372G= (p.Glu1124=)
c.3318G= (p.Glu1106=)
c.3243G= (p.Glu1081=)
c.2838G= (p.Glu946=)
c.2196G= (p.Glu732=)
n.3621G=
10g.71709174G>TCA377143335CDH23c.3183G>T (p.Glu1061Asp)
c.2614G>T
c.3198G>T (p.Glu1066Asp)
c.1958G>T
c.3378G>T (p.Glu1126Asp)
c.3312G>T (p.Glu1104Asp)
c.3372G>T (p.Glu1124Asp)
c.3318G>T (p.Glu1106Asp)
c.3243G>T (p.Glu1081Asp)
c.2838G>T (p.Glu946Asp)
c.2196G>T (p.Glu732Asp)
n.3621G>T
10g.71709175A>CCA377143336CDH23c.3184A>C (p.Thr1062Pro)
c.2615A>C
c.3199A>C (p.Thr1067Pro)
c.1959A>C
c.3379A>C (p.Thr1127Pro)
c.3313A>C (p.Thr1105Pro)
c.3373A>C (p.Thr1125Pro)
c.3319A>C (p.Thr1107Pro)
c.3244A>C (p.Thr1082Pro)
c.2839A>C (p.Thr947Pro)
c.2197A>C (p.Thr733Pro)
n.3622A>C
 gnomAD v4
10g.71709175A>GCA377143337CDH23c.3184A>G (p.Thr1062Ala)
c.2615A>G
c.3199A>G (p.Thr1067Ala)
c.1959A>G
c.3379A>G (p.Thr1127Ala)
c.3313A>G (p.Thr1105Ala)
c.3373A>G (p.Thr1125Ala)
c.3319A>G (p.Thr1107Ala)
c.3244A>G (p.Thr1082Ala)
c.2839A>G (p.Thr947Ala)
c.2197A>G (p.Thr733Ala)
n.3622A>G
10g.71709175A>TCA377143338CDH23c.3184A>T (p.Thr1062Ser)
c.2615A>T
c.3199A>T (p.Thr1067Ser)
c.1959A>T
c.3379A>T (p.Thr1127Ser)
c.3313A>T (p.Thr1105Ser)
c.3373A>T (p.Thr1125Ser)
c.3319A>T (p.Thr1107Ser)
c.3244A>T (p.Thr1082Ser)
c.2839A>T (p.Thr947Ser)
c.2197A>T (p.Thr733Ser)
n.3622A>T
10g.71709176C>ACA377143341CDH23c.3185C>A (p.Thr1062Asn)
c.2616C>A
c.3200C>A (p.Thr1067Asn)
c.1960C>A
c.3380C>A (p.Thr1127Asn)
c.3314C>A (p.Thr1105Asn)
c.3374C>A (p.Thr1125Asn)
c.3320C>A (p.Thr1107Asn)
c.3245C>A (p.Thr1082Asn)
c.2840C>A (p.Thr947Asn)
c.2198C>A (p.Thr733Asn)
n.3623C>A
10g.71709176C=CA1918840935CDH23c.3185C= (p.Thr1062=)
c.2616C=
c.3200C= (p.Thr1067=)
c.1960C=
c.3380C= (p.Thr1127=)
c.3314C= (p.Thr1105=)
c.3374C= (p.Thr1125=)
c.3320C= (p.Thr1107=)
c.3245C= (p.Thr1082=)
c.2840C= (p.Thr947=)
c.2198C= (p.Thr733=)
n.3623C=
10g.71709176C>GCA377143342CDH23c.3185C>G (p.Thr1062Ser)
c.2616C>G
c.3200C>G (p.Thr1067Ser)
c.1960C>G
c.3380C>G (p.Thr1127Ser)
c.3314C>G (p.Thr1105Ser)
c.3374C>G (p.Thr1125Ser)
c.3320C>G (p.Thr1107Ser)
c.3245C>G (p.Thr1082Ser)
c.2840C>G (p.Thr947Ser)
c.2198C>G (p.Thr733Ser)
n.3623C>G
10g.71709176C>TCA377143339CDH23c.3185C>T (p.Thr1062Ile)
c.2616C>T
c.3200C>T (p.Thr1067Ile)
c.1960C>T
c.3380C>T (p.Thr1127Ile)
c.3314C>T (p.Thr1105Ile)
c.3374C>T (p.Thr1125Ile)
c.3320C>T (p.Thr1107Ile)
c.3245C>T (p.Thr1082Ile)
c.2840C>T (p.Thr947Ile)
c.2198C>T (p.Thr733Ile)
n.3623C>T
 dbSNP
10g.71709177C>ACA5544506CDH23c.3186C>A (p.Thr1062=)
c.2617C>A
c.3201C>A (p.Thr1067=)
c.1961C>A
c.3381C>A (p.Thr1127=)
c.3315C>A (p.Thr1105=)
c.3375C>A (p.Thr1125=)
c.3321C>A (p.Thr1107=)
c.3246C>A (p.Thr1082=)
c.2841C>A (p.Thr947=)
c.2199C>A (p.Thr733=)
n.3624C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709177C=CA1918840940CDH23c.3186C= (p.Thr1062=)
c.2617C=
c.3201C= (p.Thr1067=)
c.1961C=
c.3381C= (p.Thr1127=)
c.3315C= (p.Thr1105=)
c.3375C= (p.Thr1125=)
c.3321C= (p.Thr1107=)
c.3246C= (p.Thr1082=)
c.2841C= (p.Thr947=)
c.2199C= (p.Thr733=)
n.3624C=
10g.71709177C>GCA470062412CDH23c.3186C>G (p.Thr1062=)
c.2617C>G
c.3201C>G (p.Thr1067=)
c.1961C>G
c.3381C>G (p.Thr1127=)
c.3315C>G (p.Thr1105=)
c.3375C>G (p.Thr1125=)
c.3321C>G (p.Thr1107=)
c.3246C>G (p.Thr1082=)
c.2841C>G (p.Thr947=)
c.2199C>G (p.Thr733=)
n.3624C>G
10g.71709177C>TCA5544507CDH23c.3186C>T (p.Thr1062=)
c.2617C>T
c.3201C>T (p.Thr1067=)
c.1961C>T
c.3381C>T (p.Thr1127=)
c.3315C>T (p.Thr1105=)
c.3375C>T (p.Thr1125=)
c.3321C>T (p.Thr1107=)
c.3246C>T (p.Thr1082=)
c.2841C>T (p.Thr947=)
c.2199C>T (p.Thr733=)
n.3624C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709178A=CA1918840953CDH23c.3187A= (p.Thr1063=)
c.2618A=
c.3202A= (p.Thr1068=)
c.1962A=
c.3382A= (p.Thr1128=)
c.3316A= (p.Thr1106=)
c.3376A= (p.Thr1126=)
c.3322A= (p.Thr1108=)
c.3247A= (p.Thr1083=)
c.2842A= (p.Thr948=)
c.2200A= (p.Thr734=)
n.3625A=
10g.71709178A>CCA377143344CDH23c.3187A>C (p.Thr1063Pro)
c.2618A>C
c.3202A>C (p.Thr1068Pro)
c.1962A>C
c.3382A>C (p.Thr1128Pro)
c.3316A>C (p.Thr1106Pro)
c.3376A>C (p.Thr1126Pro)
c.3322A>C (p.Thr1108Pro)
c.3247A>C (p.Thr1083Pro)
c.2842A>C (p.Thr948Pro)
c.2200A>C (p.Thr734Pro)
n.3625A>C
10g.71709178A>GCA377143345CDH23c.3187A>G (p.Thr1063Ala)
c.2618A>G
c.3202A>G (p.Thr1068Ala)
c.1962A>G
c.3382A>G (p.Thr1128Ala)
c.3316A>G (p.Thr1106Ala)
c.3376A>G (p.Thr1126Ala)
c.3322A>G (p.Thr1108Ala)
c.3247A>G (p.Thr1083Ala)
c.2842A>G (p.Thr948Ala)
c.2200A>G (p.Thr734Ala)
n.3625A>G
10g.71709178A>TCA377143347CDH23c.3187A>T (p.Thr1063Ser)
c.2618A>T
c.3202A>T (p.Thr1068Ser)
c.1962A>T
c.3382A>T (p.Thr1128Ser)
c.3316A>T (p.Thr1106Ser)
c.3376A>T (p.Thr1126Ser)
c.3322A>T (p.Thr1108Ser)
c.3247A>T (p.Thr1083Ser)
c.2842A>T (p.Thr948Ser)
c.2200A>T (p.Thr734Ser)
n.3625A>T
 dbSNP gnomAD v3 gnomAD v4
10g.71709179C>ACA377143349CDH23c.3188C>A (p.Thr1063Lys)
c.2619C>A
c.3203C>A (p.Thr1068Lys)
c.1963C>A
c.3383C>A (p.Thr1128Lys)
c.3317C>A (p.Thr1106Lys)
c.3377C>A (p.Thr1126Lys)
c.3323C>A (p.Thr1108Lys)
c.3248C>A (p.Thr1083Lys)
c.2843C>A (p.Thr948Lys)
c.2201C>A (p.Thr734Lys)
n.3626C>A
10g.71709179C>GCA377143350CDH23c.3188C>G (p.Thr1063Arg)
c.2619C>G
c.3203C>G (p.Thr1068Arg)
c.1963C>G
c.3383C>G (p.Thr1128Arg)
c.3317C>G (p.Thr1106Arg)
c.3377C>G (p.Thr1126Arg)
c.3323C>G (p.Thr1108Arg)
c.3248C>G (p.Thr1083Arg)
c.2843C>G (p.Thr948Arg)
c.2201C>G (p.Thr734Arg)
n.3626C>G
10g.71709179C>TCA377143351CDH23c.3188C>T (p.Thr1063Ile)
c.2619C>T
c.3203C>T (p.Thr1068Ile)
c.1963C>T
c.3383C>T (p.Thr1128Ile)
c.3317C>T (p.Thr1106Ile)
c.3377C>T (p.Thr1126Ile)
c.3323C>T (p.Thr1108Ile)
c.3248C>T (p.Thr1083Ile)
c.2843C>T (p.Thr948Ile)
c.2201C>T (p.Thr734Ile)
n.3626C>T
10g.71709180A=CA1918840959CDH23c.3189A= (p.Thr1063=)
c.2620A=
c.3204A= (p.Thr1068=)
c.1964A=
c.3384A= (p.Thr1128=)
c.3318A= (p.Thr1106=)
c.3378A= (p.Thr1126=)
c.3324A= (p.Thr1108=)
c.3249A= (p.Thr1083=)
c.2844A= (p.Thr948=)
c.2202A= (p.Thr734=)
n.3627A=
10g.71709180A>CCA470062413CDH23c.3189A>C (p.Thr1063=)
c.2620A>C
c.3204A>C (p.Thr1068=)
c.1964A>C
c.3384A>C (p.Thr1128=)
c.3318A>C (p.Thr1106=)
c.3378A>C (p.Thr1126=)
c.3324A>C (p.Thr1108=)
c.3249A>C (p.Thr1083=)
c.2844A>C (p.Thr948=)
c.2202A>C (p.Thr734=)
n.3627A>C
10g.71709180A>GCA470062414CDH23c.3189A>G (p.Thr1063=)
c.2620A>G
c.3204A>G (p.Thr1068=)
c.1964A>G
c.3384A>G (p.Thr1128=)
c.3318A>G (p.Thr1106=)
c.3378A>G (p.Thr1126=)
c.3324A>G (p.Thr1108=)
c.3249A>G (p.Thr1083=)
c.2844A>G (p.Thr948=)
c.2202A>G (p.Thr734=)
n.3627A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71709180A>TCA470062415CDH23c.3189A>T (p.Thr1063=)
c.2620A>T
c.3204A>T (p.Thr1068=)
c.1964A>T
c.3384A>T (p.Thr1128=)
c.3318A>T (p.Thr1106=)
c.3378A>T (p.Thr1126=)
c.3324A>T (p.Thr1108=)
c.3249A>T (p.Thr1083=)
c.2844A>T (p.Thr948=)
c.2202A>T (p.Thr734=)
n.3627A>T
10g.71709181G>ACA377143352CDH23c.3190G>A (p.Ala1064Thr)
c.2621G>A
c.3205G>A (p.Ala1069Thr)
c.1965G>A
c.3385G>A (p.Ala1129Thr)
c.3319G>A (p.Ala1107Thr)
c.3379G>A (p.Ala1127Thr)
c.3325G>A (p.Ala1109Thr)
c.3250G>A (p.Ala1084Thr)
c.2845G>A (p.Ala949Thr)
c.2203G>A (p.Ala735Thr)
n.3628G>A
 COSMIC COSMIC
10g.71709181G>CCA377143354CDH23c.3190G>C (p.Ala1064Pro)
c.2621G>C
c.3205G>C (p.Ala1069Pro)
c.1965G>C
c.3385G>C (p.Ala1129Pro)
c.3319G>C (p.Ala1107Pro)
c.3379G>C (p.Ala1127Pro)
c.3325G>C (p.Ala1109Pro)
c.3250G>C (p.Ala1084Pro)
c.2845G>C (p.Ala949Pro)
c.2203G>C (p.Ala735Pro)
n.3628G>C
10g.71709181G>TCA377143356CDH23c.3190G>T (p.Ala1064Ser)
c.2621G>T
c.3205G>T (p.Ala1069Ser)
c.1965G>T
c.3385G>T (p.Ala1129Ser)
c.3319G>T (p.Ala1107Ser)
c.3379G>T (p.Ala1127Ser)
c.3325G>T (p.Ala1109Ser)
c.3250G>T (p.Ala1084Ser)
c.2845G>T (p.Ala949Ser)
c.2203G>T (p.Ala735Ser)
n.3628G>T
10g.71709182C>ACA377143360CDH23c.3191C>A (p.Ala1064Asp)
c.2622C>A
c.3206C>A (p.Ala1069Asp)
c.1966C>A
c.3386C>A (p.Ala1129Asp)
c.3320C>A (p.Ala1107Asp)
c.3380C>A (p.Ala1127Asp)
c.3326C>A (p.Ala1109Asp)
c.3251C>A (p.Ala1084Asp)
c.2846C>A (p.Ala949Asp)
c.2204C>A (p.Ala735Asp)
n.3629C>A
10g.71709182C>GCA377143361CDH23c.3191C>G (p.Ala1064Gly)
c.2622C>G
c.3206C>G (p.Ala1069Gly)
c.1966C>G
c.3386C>G (p.Ala1129Gly)
c.3320C>G (p.Ala1107Gly)
c.3380C>G (p.Ala1127Gly)
c.3326C>G (p.Ala1109Gly)
c.3251C>G (p.Ala1084Gly)
c.2846C>G (p.Ala949Gly)
c.2204C>G (p.Ala735Gly)
n.3629C>G
10g.71709182C>TCA377143358CDH23c.3191C>T (p.Ala1064Val)
c.2622C>T
c.3206C>T (p.Ala1069Val)
c.1966C>T
c.3386C>T (p.Ala1129Val)
c.3320C>T (p.Ala1107Val)
c.3380C>T (p.Ala1127Val)
c.3326C>T (p.Ala1109Val)
c.3251C>T (p.Ala1084Val)
c.2846C>T (p.Ala949Val)
c.2204C>T (p.Ala735Val)
n.3629C>T
 COSMIC
10g.71709183C>ACA470062416CDH23c.3192C>A (p.Ala1064=)
c.2623C>A
c.3207C>A (p.Ala1069=)
c.1967C>A
c.3387C>A (p.Ala1129=)
c.3321C>A (p.Ala1107=)
c.3381C>A (p.Ala1127=)
c.3327C>A (p.Ala1109=)
c.3252C>A (p.Ala1084=)
c.2847C>A (p.Ala949=)
c.2205C>A (p.Ala735=)
n.3630C>A
 ClinVar dbSNP
10g.71709183C=CA1918840965CDH23c.3192C= (p.Ala1064=)
c.2623C=
c.3207C= (p.Ala1069=)
c.1967C=
c.3387C= (p.Ala1129=)
c.3321C= (p.Ala1107=)
c.3381C= (p.Ala1127=)
c.3327C= (p.Ala1109=)
c.3252C= (p.Ala1084=)
c.2847C= (p.Ala949=)
c.2205C= (p.Ala735=)
n.3630C=
10g.71709183C>GCA470062417CDH23c.3192C>G (p.Ala1064=)
c.2623C>G
c.3207C>G (p.Ala1069=)
c.1967C>G
c.3387C>G (p.Ala1129=)
c.3321C>G (p.Ala1107=)
c.3381C>G (p.Ala1127=)
c.3327C>G (p.Ala1109=)
c.3252C>G (p.Ala1084=)
c.2847C>G (p.Ala949=)
c.2205C>G (p.Ala735=)
n.3630C>G
10g.71709183C>TCA5544508CDH23c.3192C>T (p.Ala1064=)
c.2623C>T
c.3207C>T (p.Ala1069=)
c.1967C>T
c.3387C>T (p.Ala1129=)
c.3321C>T (p.Ala1107=)
c.3381C>T (p.Ala1127=)
c.3327C>T (p.Ala1109=)
c.3252C>T (p.Ala1084=)
c.2847C>T (p.Ala949=)
c.2205C>T (p.Ala735=)
n.3630C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709184G>ACA377143363CDH23c.3193G>A (p.Ala1065Thr)
c.2624G>A
c.3208G>A (p.Ala1070Thr)
c.1968G>A
c.3388G>A (p.Ala1130Thr)
c.3322G>A (p.Ala1108Thr)
c.3382G>A (p.Ala1128Thr)
c.3328G>A (p.Ala1110Thr)
c.3253G>A (p.Ala1085Thr)
c.2848G>A (p.Ala950Thr)
c.2206G>A (p.Ala736Thr)
n.3631G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.71709184G>CCA377143365CDH23c.3193G>C (p.Ala1065Pro)
c.2624G>C
c.3208G>C (p.Ala1070Pro)
c.1968G>C
c.3388G>C (p.Ala1130Pro)
c.3322G>C (p.Ala1108Pro)
c.3382G>C (p.Ala1128Pro)
c.3328G>C (p.Ala1110Pro)
c.3253G>C (p.Ala1085Pro)
c.2848G>C (p.Ala950Pro)
c.2206G>C (p.Ala736Pro)
n.3631G>C
10g.71709184G=CA1918840969CDH23c.3193G= (p.Ala1065=)
c.2624G=
c.3208G= (p.Ala1070=)
c.1968G=
c.3388G= (p.Ala1130=)
c.3322G= (p.Ala1108=)
c.3382G= (p.Ala1128=)
c.3328G= (p.Ala1110=)
c.3253G= (p.Ala1085=)
c.2848G= (p.Ala950=)
c.2206G= (p.Ala736=)
n.3631G=
10g.71709184G>TCA377143366CDH23c.3193G>T (p.Ala1065Ser)
c.2624G>T
c.3208G>T (p.Ala1070Ser)
c.1968G>T
c.3388G>T (p.Ala1130Ser)
c.3322G>T (p.Ala1108Ser)
c.3382G>T (p.Ala1128Ser)
c.3328G>T (p.Ala1110Ser)
c.3253G>T (p.Ala1085Ser)
c.2848G>T (p.Ala950Ser)
c.2206G>T (p.Ala736Ser)
n.3631G>T
 dbSNP gnomAD v2 gnomAD v4
10g.71709185C>ACA377143371CDH23c.3194C>A (p.Ala1065Asp)
c.2625C>A
c.3209C>A (p.Ala1070Asp)
c.1969C>A
c.3389C>A (p.Ala1130Asp)
c.3323C>A (p.Ala1108Asp)
c.3383C>A (p.Ala1128Asp)
c.3329C>A (p.Ala1110Asp)
c.3254C>A (p.Ala1085Asp)
c.2849C>A (p.Ala950Asp)
c.2207C>A (p.Ala736Asp)
n.3632C>A
10g.71709185C>GCA377143370CDH23c.3194C>G (p.Ala1065Gly)
c.2625C>G
c.3209C>G (p.Ala1070Gly)
c.1969C>G
c.3389C>G (p.Ala1130Gly)
c.3323C>G (p.Ala1108Gly)
c.3383C>G (p.Ala1128Gly)
c.3329C>G (p.Ala1110Gly)
c.3254C>G (p.Ala1085Gly)
c.2849C>G (p.Ala950Gly)
c.2207C>G (p.Ala736Gly)
n.3632C>G
10g.71709185C>TCA377143367CDH23c.3194C>T (p.Ala1065Val)
c.2625C>T
c.3209C>T (p.Ala1070Val)
c.1969C>T
c.3389C>T (p.Ala1130Val)
c.3323C>T (p.Ala1108Val)
c.3383C>T (p.Ala1128Val)
c.3329C>T (p.Ala1110Val)
c.3254C>T (p.Ala1085Val)
c.2849C>T (p.Ala950Val)
c.2207C>T (p.Ala736Val)
n.3632C>T
10g.71709186C>ACA470062418CDH23c.3195C>A (p.Ala1065=)
c.2626C>A
c.3210C>A (p.Ala1070=)
c.1970C>A
c.3390C>A (p.Ala1130=)
c.3324C>A (p.Ala1108=)
c.3384C>A (p.Ala1128=)
c.3330C>A (p.Ala1110=)
c.3255C>A (p.Ala1085=)
c.2850C>A (p.Ala950=)
c.2208C>A (p.Ala736=)
n.3633C>A
 gnomAD v4
10g.71709186C=CA1918840971CDH23c.3195C= (p.Ala1065=)
c.2626C=
c.3210C= (p.Ala1070=)
c.1970C=
c.3390C= (p.Ala1130=)
c.3324C= (p.Ala1108=)
c.3384C= (p.Ala1128=)
c.3330C= (p.Ala1110=)
c.3255C= (p.Ala1085=)
c.2850C= (p.Ala950=)
c.2208C= (p.Ala736=)
n.3633C=
10g.71709186C>GCA5544509CDH23c.3195C>G (p.Ala1065=)
c.2626C>G
c.3210C>G (p.Ala1070=)
c.1970C>G
c.3390C>G (p.Ala1130=)
c.3324C>G (p.Ala1108=)
c.3384C>G (p.Ala1128=)
c.3330C>G (p.Ala1110=)
c.3255C>G (p.Ala1085=)
c.2850C>G (p.Ala950=)
c.2208C>G (p.Ala736=)
n.3633C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709186C>TCA470062419CDH23c.3195C>T (p.Ala1065=)
c.2626C>T
c.3210C>T (p.Ala1070=)
c.1970C>T
c.3390C>T (p.Ala1130=)
c.3324C>T (p.Ala1108=)
c.3384C>T (p.Ala1128=)
c.3330C>T (p.Ala1110=)
c.3255C>T (p.Ala1085=)
c.2850C>T (p.Ala950=)
c.2208C>T (p.Ala736=)
n.3633C>T
10g.71709187T>ACA377143374CDH23c.3196T>A (p.Tyr1066Asn)
c.2627T>A
c.3211T>A (p.Tyr1071Asn)
c.1971T>A
c.3391T>A (p.Tyr1131Asn)
c.3325T>A (p.Tyr1109Asn)
c.3385T>A (p.Tyr1129Asn)
c.3331T>A (p.Tyr1111Asn)
c.3256T>A (p.Tyr1086Asn)
c.2851T>A (p.Tyr951Asn)
c.2209T>A (p.Tyr737Asn)
n.3634T>A
10g.71709187T>CCA377143375CDH23c.3196T>C (p.Tyr1066His)
c.2627T>C
c.3211T>C (p.Tyr1071His)
c.1971T>C
c.3391T>C (p.Tyr1131His)
c.3325T>C (p.Tyr1109His)
c.3385T>C (p.Tyr1129His)
c.3331T>C (p.Tyr1111His)
c.3256T>C (p.Tyr1086His)
c.2851T>C (p.Tyr951His)
c.2209T>C (p.Tyr737His)
n.3634T>C
 COSMIC COSMIC
10g.71709187T>GCA377143377CDH23c.3196T>G (p.Tyr1066Asp)
c.2627T>G
c.3211T>G (p.Tyr1071Asp)
c.1971T>G
c.3391T>G (p.Tyr1131Asp)
c.3325T>G (p.Tyr1109Asp)
c.3385T>G (p.Tyr1129Asp)
c.3331T>G (p.Tyr1111Asp)
c.3256T>G (p.Tyr1086Asp)
c.2851T>G (p.Tyr951Asp)
c.2209T>G (p.Tyr737Asp)
n.3634T>G
10g.71709188A>CCA377143379CDH23c.3197A>C (p.Tyr1066Ser)
c.2628A>C
c.3212A>C (p.Tyr1071Ser)
c.1972A>C
c.3392A>C (p.Tyr1131Ser)
c.3326A>C (p.Tyr1109Ser)
c.3386A>C (p.Tyr1129Ser)
c.3332A>C (p.Tyr1111Ser)
c.3257A>C (p.Tyr1086Ser)
c.2852A>C (p.Tyr951Ser)
c.2210A>C (p.Tyr737Ser)
n.3635A>C
10g.71709188A>GCA377143380CDH23c.3197A>G (p.Tyr1066Cys)
c.2628A>G
c.3212A>G (p.Tyr1071Cys)
c.1972A>G
c.3392A>G (p.Tyr1131Cys)
c.3326A>G (p.Tyr1109Cys)
c.3386A>G (p.Tyr1129Cys)
c.3332A>G (p.Tyr1111Cys)
c.3257A>G (p.Tyr1086Cys)
c.2852A>G (p.Tyr951Cys)
c.2210A>G (p.Tyr737Cys)
n.3635A>G
 gnomAD v4
10g.71709188A>TCA377143382CDH23c.3197A>T (p.Tyr1066Phe)
c.2628A>T
c.3212A>T (p.Tyr1071Phe)
c.1972A>T
c.3392A>T (p.Tyr1131Phe)
c.3326A>T (p.Tyr1109Phe)
c.3386A>T (p.Tyr1129Phe)
c.3332A>T (p.Tyr1111Phe)
c.3257A>T (p.Tyr1086Phe)
c.2852A>T (p.Tyr951Phe)
c.2210A>T (p.Tyr737Phe)
n.3635A>T
10g.71709189C>ACA377143384CDH23c.3198C>A (p.Tyr1066Ter)
c.2629C>A
c.3213C>A (p.Tyr1071Ter)
c.1973C>A
c.3393C>A (p.Tyr1131Ter)
c.3327C>A (p.Tyr1109Ter)
c.3387C>A (p.Tyr1129Ter)
c.3333C>A (p.Tyr1111Ter)
c.3258C>A (p.Tyr1086Ter)
c.2853C>A (p.Tyr951Ter)
c.2211C>A (p.Tyr737Ter)
n.3636C>A
10g.71709189C>GCA377143385CDH23c.3198C>G (p.Tyr1066Ter)
c.2629C>G
c.3213C>G (p.Tyr1071Ter)
c.1973C>G
c.3393C>G (p.Tyr1131Ter)
c.3327C>G (p.Tyr1109Ter)
c.3387C>G (p.Tyr1129Ter)
c.3333C>G (p.Tyr1111Ter)
c.3258C>G (p.Tyr1086Ter)
c.2853C>G (p.Tyr951Ter)
c.2211C>G (p.Tyr737Ter)
n.3636C>G
 gnomAD v4
10g.71709189C>TCA470062420CDH23c.3198C>T (p.Tyr1066=)
c.2629C>T
c.3213C>T (p.Tyr1071=)
c.1973C>T
c.3393C>T (p.Tyr1131=)
c.3327C>T (p.Tyr1109=)
c.3387C>T (p.Tyr1129=)
c.3333C>T (p.Tyr1111=)
c.3258C>T (p.Tyr1086=)
c.2853C>T (p.Tyr951=)
c.2211C>T (p.Tyr737=)
n.3636C>T
 ClinVar dbSNP
10g.71709190A=CA1918840975CDH23c.3199A= (p.Met1067=)
c.2630A=
c.3214A= (p.Met1072=)
c.1974A=
c.3394A= (p.Met1132=)
c.3328A= (p.Met1110=)
c.3388A= (p.Met1130=)
c.3334A= (p.Met1112=)
c.3259A= (p.Met1087=)
c.2854A= (p.Met952=)
c.2212A= (p.Met738=)
n.3637A=
10g.71709190A>CCA377143387CDH23c.3199A>C (p.Met1067Leu)
c.2630A>C
c.3214A>C (p.Met1072Leu)
c.1974A>C
c.3394A>C (p.Met1132Leu)
c.3328A>C (p.Met1110Leu)
c.3388A>C (p.Met1130Leu)
c.3334A>C (p.Met1112Leu)
c.3259A>C (p.Met1087Leu)
c.2854A>C (p.Met952Leu)
c.2212A>C (p.Met738Leu)
n.3637A>C
 dbSNP gnomAD v3 gnomAD v4
10g.71709190A>GCA377143388CDH23c.3199A>G (p.Met1067Val)
c.2630A>G
c.3214A>G (p.Met1072Val)
c.1974A>G
c.3394A>G (p.Met1132Val)
c.3328A>G (p.Met1110Val)
c.3388A>G (p.Met1130Val)
c.3334A>G (p.Met1112Val)
c.3259A>G (p.Met1087Val)
c.2854A>G (p.Met952Val)
c.2212A>G (p.Met738Val)
n.3637A>G
 dbSNP gnomAD v4 COSMIC COSMIC
10g.71709190A>TCA377143389CDH23c.3199A>T (p.Met1067Leu)
c.2630A>T
c.3214A>T (p.Met1072Leu)
c.1974A>T
c.3394A>T (p.Met1132Leu)
c.3328A>T (p.Met1110Leu)
c.3388A>T (p.Met1130Leu)
c.3334A>T (p.Met1112Leu)
c.3259A>T (p.Met1087Leu)
c.2854A>T (p.Met952Leu)
c.2212A>T (p.Met738Leu)
n.3637A>T
 gnomAD v4
10g.71709191T>ACA377143391CDH23c.3200T>A (p.Met1067Lys)
c.2631T>A
c.3215T>A (p.Met1072Lys)
c.1975T>A
c.3395T>A (p.Met1132Lys)
c.3329T>A (p.Met1110Lys)
c.3389T>A (p.Met1130Lys)
c.3335T>A (p.Met1112Lys)
c.3260T>A (p.Met1087Lys)
c.2855T>A (p.Met952Lys)
c.2213T>A (p.Met738Lys)
n.3638T>A
10g.71709191T>CCA377143393CDH23c.3200T>C (p.Met1067Thr)
c.2631T>C
c.3215T>C (p.Met1072Thr)
c.1975T>C
c.3395T>C (p.Met1132Thr)
c.3329T>C (p.Met1110Thr)
c.3389T>C (p.Met1130Thr)
c.3335T>C (p.Met1112Thr)
c.3260T>C (p.Met1087Thr)
c.2855T>C (p.Met952Thr)
c.2213T>C (p.Met738Thr)
n.3638T>C
 dbSNP gnomAD v4
10g.71709191T>GCA377143394CDH23c.3200T>G (p.Met1067Arg)
c.2631T>G
c.3215T>G (p.Met1072Arg)
c.1975T>G
c.3395T>G (p.Met1132Arg)
c.3329T>G (p.Met1110Arg)
c.3389T>G (p.Met1130Arg)
c.3335T>G (p.Met1112Arg)
c.3260T>G (p.Met1087Arg)
c.2855T>G (p.Met952Arg)
c.2213T>G (p.Met738Arg)
n.3638T>G
10g.71709191T=CA1918840980CDH23c.3200T= (p.Met1067=)
c.2631T=
c.3215T= (p.Met1072=)
c.1975T=
c.3395T= (p.Met1132=)
c.3329T= (p.Met1110=)
c.3389T= (p.Met1130=)
c.3335T= (p.Met1112=)
c.3260T= (p.Met1087=)
c.2855T= (p.Met952=)
c.2213T= (p.Met738=)
n.3638T=
10g.71709192G>ACA5544510CDH23c.3201G>A (p.Met1067Ile)
c.2632G>A
c.3216G>A (p.Met1072Ile)
c.1976G>A
c.3396G>A (p.Met1132Ile)
c.3330G>A (p.Met1110Ile)
c.3390G>A (p.Met1130Ile)
c.3336G>A (p.Met1112Ile)
c.3261G>A (p.Met1087Ile)
c.2856G>A (p.Met952Ile)
c.2214G>A (p.Met738Ile)
n.3639G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709192G>CCA377143397CDH23c.3201G>C (p.Met1067Ile)
c.2632G>C
c.3216G>C (p.Met1072Ile)
c.1976G>C
c.3396G>C (p.Met1132Ile)
c.3330G>C (p.Met1110Ile)
c.3390G>C (p.Met1130Ile)
c.3336G>C (p.Met1112Ile)
c.3261G>C (p.Met1087Ile)
c.2856G>C (p.Met952Ile)
c.2214G>C (p.Met738Ile)
n.3639G>C
10g.71709192G=CA1918840983CDH23c.3201G= (p.Met1067=)
c.2632G=
c.3216G= (p.Met1072=)
c.1976G=
c.3396G= (p.Met1132=)
c.3330G= (p.Met1110=)
c.3390G= (p.Met1130=)
c.3336G= (p.Met1112=)
c.3261G= (p.Met1087=)
c.2856G= (p.Met952=)
c.2214G= (p.Met738=)
n.3639G=
10g.71709192G>TCA377143396CDH23c.3201G>T (p.Met1067Ile)
c.2632G>T
c.3216G>T (p.Met1072Ile)
c.1976G>T
c.3396G>T (p.Met1132Ile)
c.3330G>T (p.Met1110Ile)
c.3390G>T (p.Met1130Ile)
c.3336G>T (p.Met1112Ile)
c.3261G>T (p.Met1087Ile)
c.2856G>T (p.Met952Ile)
c.2214G>T (p.Met738Ile)
n.3639G>T
10g.71709193C>ACA377143400CDH23c.3202C>A (p.Leu1068Ile)
c.2633C>A
c.3217C>A (p.Leu1073Ile)
c.1977C>A
c.3397C>A (p.Leu1133Ile)
c.3331C>A (p.Leu1111Ile)
c.3391C>A (p.Leu1131Ile)
c.3337C>A (p.Leu1113Ile)
c.3262C>A (p.Leu1088Ile)
c.2857C>A (p.Leu953Ile)
c.2215C>A (p.Leu739Ile)
n.3640C>A
10g.71709193C>GCA377143401CDH23c.3202C>G (p.Leu1068Val)
c.2633C>G
c.3217C>G (p.Leu1073Val)
c.1977C>G
c.3397C>G (p.Leu1133Val)
c.3331C>G (p.Leu1111Val)
c.3391C>G (p.Leu1131Val)
c.3337C>G (p.Leu1113Val)
c.3262C>G (p.Leu1088Val)
c.2857C>G (p.Leu953Val)
c.2215C>G (p.Leu739Val)
n.3640C>G
10g.71709193C>TCA377143403CDH23c.3202C>T (p.Leu1068Phe)
c.2633C>T
c.3217C>T (p.Leu1073Phe)
c.1977C>T
c.3397C>T (p.Leu1133Phe)
c.3331C>T (p.Leu1111Phe)
c.3391C>T (p.Leu1131Phe)
c.3337C>T (p.Leu1113Phe)
c.3262C>T (p.Leu1088Phe)
c.2857C>T (p.Leu953Phe)
c.2215C>T (p.Leu739Phe)
n.3640C>T
 gnomAD v4
10g.71709194T>ACA377143404CDH23c.3203T>A (p.Leu1068His)
c.2634T>A
c.3218T>A (p.Leu1073His)
c.1978T>A
c.3398T>A (p.Leu1133His)
c.3332T>A (p.Leu1111His)
c.3392T>A (p.Leu1131His)
c.3338T>A (p.Leu1113His)
c.3263T>A (p.Leu1088His)
c.2858T>A (p.Leu953His)
c.2216T>A (p.Leu739His)
n.3641T>A
 dbSNP gnomAD v4
10g.71709194T>CCA377143405CDH23c.3203T>C (p.Leu1068Pro)
c.2634T>C
c.3218T>C (p.Leu1073Pro)
c.1978T>C
c.3398T>C (p.Leu1133Pro)
c.3332T>C (p.Leu1111Pro)
c.3392T>C (p.Leu1131Pro)
c.3338T>C (p.Leu1113Pro)
c.3263T>C (p.Leu1088Pro)
c.2858T>C (p.Leu953Pro)
c.2216T>C (p.Leu739Pro)
n.3641T>C
10g.71709194T>GCA377143407CDH23c.3203T>G (p.Leu1068Arg)
c.2634T>G
c.3218T>G (p.Leu1073Arg)
c.1978T>G
c.3398T>G (p.Leu1133Arg)
c.3332T>G (p.Leu1111Arg)
c.3392T>G (p.Leu1131Arg)
c.3338T>G (p.Leu1113Arg)
c.3263T>G (p.Leu1088Arg)
c.2858T>G (p.Leu953Arg)
c.2216T>G (p.Leu739Arg)
n.3641T>G
10g.71709194T=CA1918840987CDH23c.3203T= (p.Leu1068=)
c.2634T=
c.3218T= (p.Leu1073=)
c.1978T=
c.3398T= (p.Leu1133=)
c.3332T= (p.Leu1111=)
c.3392T= (p.Leu1131=)
c.3338T= (p.Leu1113=)
c.3263T= (p.Leu1088=)
c.2858T= (p.Leu953=)
c.2216T= (p.Leu739=)
n.3641T=
10g.71709195C>ACA470062422CDH23c.3204C>A (p.Leu1068=)
c.2635C>A
c.3219C>A (p.Leu1073=)
c.1979C>A
c.3399C>A (p.Leu1133=)
c.3333C>A (p.Leu1111=)
c.3393C>A (p.Leu1131=)
c.3339C>A (p.Leu1113=)
c.3264C>A (p.Leu1088=)
c.2859C>A (p.Leu953=)
c.2217C>A (p.Leu739=)
n.3642C>A
10g.71709195C=CA1918840989CDH23c.3204C= (p.Leu1068=)
c.2635C=
c.3219C= (p.Leu1073=)
c.1979C=
c.3399C= (p.Leu1133=)
c.3333C= (p.Leu1111=)
c.3393C= (p.Leu1131=)
c.3339C= (p.Leu1113=)
c.3264C= (p.Leu1088=)
c.2859C= (p.Leu953=)
c.2217C= (p.Leu739=)
n.3642C=
10g.71709195C>GCA470062423CDH23c.3204C>G (p.Leu1068=)
c.2635C>G
c.3219C>G (p.Leu1073=)
c.1979C>G
c.3399C>G (p.Leu1133=)
c.3333C>G (p.Leu1111=)
c.3393C>G (p.Leu1131=)
c.3339C>G (p.Leu1113=)
c.3264C>G (p.Leu1088=)
c.2859C>G (p.Leu953=)
c.2217C>G (p.Leu739=)
n.3642C>G
10g.71709195C>TCA470062424CDH23c.3204C>T (p.Leu1068=)
c.2635C>T
c.3219C>T (p.Leu1073=)
c.1979C>T
c.3399C>T (p.Leu1133=)
c.3333C>T (p.Leu1111=)
c.3393C>T (p.Leu1131=)
c.3339C>T (p.Leu1113=)
c.3264C>T (p.Leu1088=)
c.2859C>T (p.Leu953=)
c.2217C>T (p.Leu739=)
n.3642C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71709196A>CCA377143408CDH23c.3205A>C (p.Ile1069Leu)
c.2636A>C
c.3220A>C (p.Ile1074Leu)
c.1980A>C
c.3400A>C (p.Ile1134Leu)
c.3334A>C (p.Ile1112Leu)
c.3394A>C (p.Ile1132Leu)
c.3340A>C (p.Ile1114Leu)
c.3265A>C (p.Ile1089Leu)
c.2860A>C (p.Ile954Leu)
c.2218A>C (p.Ile740Leu)
n.3643A>C
 gnomAD v4
10g.71709196A>GCA377143411CDH23c.3205A>G (p.Ile1069Val)
c.2636A>G
c.3220A>G (p.Ile1074Val)
c.1980A>G
c.3400A>G (p.Ile1134Val)
c.3334A>G (p.Ile1112Val)
c.3394A>G (p.Ile1132Val)
c.3340A>G (p.Ile1114Val)
c.3265A>G (p.Ile1089Val)
c.2860A>G (p.Ile954Val)
c.2218A>G (p.Ile740Val)
n.3643A>G
10g.71709196A>TCA377143410CDH23c.3205A>T (p.Ile1069Phe)
c.2636A>T
c.3220A>T (p.Ile1074Phe)
c.1980A>T
c.3400A>T (p.Ile1134Phe)
c.3334A>T (p.Ile1112Phe)
c.3394A>T (p.Ile1132Phe)
c.3340A>T (p.Ile1114Phe)
c.3265A>T (p.Ile1089Phe)
c.2860A>T (p.Ile954Phe)
c.2218A>T (p.Ile740Phe)
n.3643A>T
 gnomAD v4
10g.71709197T>ACA377143412CDH23c.3206T>A (p.Ile1069Asn)
c.2637T>A
c.3221T>A (p.Ile1074Asn)
c.1981T>A
c.3401T>A (p.Ile1134Asn)
c.3335T>A (p.Ile1112Asn)
c.3395T>A (p.Ile1132Asn)
c.3341T>A (p.Ile1114Asn)
c.3266T>A (p.Ile1089Asn)
c.2861T>A (p.Ile954Asn)
c.2219T>A (p.Ile740Asn)
n.3644T>A
10g.71709197T>CCA377143414CDH23c.3206T>C (p.Ile1069Thr)
c.2637T>C
c.3221T>C (p.Ile1074Thr)
c.1981T>C
c.3401T>C (p.Ile1134Thr)
c.3335T>C (p.Ile1112Thr)
c.3395T>C (p.Ile1132Thr)
c.3341T>C (p.Ile1114Thr)
c.3266T>C (p.Ile1089Thr)
c.2861T>C (p.Ile954Thr)
c.2219T>C (p.Ile740Thr)
n.3644T>C
10g.71709197T>GCA209462231CDH23c.3206T>G (p.Ile1069Ser)
c.2637T>G
c.3221T>G (p.Ile1074Ser)
c.1981T>G
c.3401T>G (p.Ile1134Ser)
c.3335T>G (p.Ile1112Ser)
c.3395T>G (p.Ile1132Ser)
c.3341T>G (p.Ile1114Ser)
c.3266T>G (p.Ile1089Ser)
c.2861T>G (p.Ile954Ser)
c.2219T>G (p.Ile740Ser)
n.3644T>G
 dbSNP
10g.71709197T=CA1918840993CDH23c.3206T= (p.Ile1069=)
c.2637T=
c.3221T= (p.Ile1074=)
c.1981T=
c.3401T= (p.Ile1134=)
c.3335T= (p.Ile1112=)
c.3395T= (p.Ile1132=)
c.3341T= (p.Ile1114=)
c.3266T= (p.Ile1089=)
c.2861T= (p.Ile954=)
c.2219T= (p.Ile740=)
n.3644T=
10g.71709198C>ACA470062425CDH23c.3207C>A (p.Ile1069=)
c.2638C>A
c.3222C>A (p.Ile1074=)
c.1982C>A
c.3402C>A (p.Ile1134=)
c.3336C>A (p.Ile1112=)
c.3396C>A (p.Ile1132=)
c.3342C>A (p.Ile1114=)
c.3267C>A (p.Ile1089=)
c.2862C>A (p.Ile954=)
c.2220C>A (p.Ile740=)
n.3645C>A
10g.71709198C=CA1918840994CDH23c.3207C= (p.Ile1069=)
c.2638C=
c.3222C= (p.Ile1074=)
c.1982C=
c.3402C= (p.Ile1134=)
c.3336C= (p.Ile1112=)
c.3396C= (p.Ile1132=)
c.3342C= (p.Ile1114=)
c.3267C= (p.Ile1089=)
c.2862C= (p.Ile954=)
c.2220C= (p.Ile740=)
n.3645C=
10g.71709198C>GCA377143416CDH23c.3207C>G (p.Ile1069Met)
c.2638C>G
c.3222C>G (p.Ile1074Met)
c.1982C>G
c.3402C>G (p.Ile1134Met)
c.3336C>G (p.Ile1112Met)
c.3396C>G (p.Ile1132Met)
c.3342C>G (p.Ile1114Met)
c.3267C>G (p.Ile1089Met)
c.2862C>G (p.Ile954Met)
c.2220C>G (p.Ile740Met)
n.3645C>G
10g.71709198C>TCA5544511CDH23c.3207C>T (p.Ile1069=)
c.2638C>T
c.3222C>T (p.Ile1074=)
c.1982C>T
c.3402C>T (p.Ile1134=)
c.3336C>T (p.Ile1112=)
c.3396C>T (p.Ile1132=)
c.3342C>T (p.Ile1114=)
c.3267C>T (p.Ile1089=)
c.2862C>T (p.Ile954=)
c.2220C>T (p.Ile740=)
n.3645C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709199C>ACA377143417CDH23c.3208C>A (p.Leu1070Met)
c.2639C>A
c.3223C>A (p.Leu1075Met)
c.1983C>A
c.3403C>A (p.Leu1135Met)
c.3337C>A (p.Leu1113Met)
c.3397C>A (p.Leu1133Met)
c.3343C>A (p.Leu1115Met)
c.3268C>A (p.Leu1090Met)
c.2863C>A (p.Leu955Met)
c.2221C>A (p.Leu741Met)
n.3646C>A
10g.71709199C=CA1918840995CDH23c.3208C= (p.Leu1070=)
c.2639C=
c.3223C= (p.Leu1075=)
c.1983C=
c.3403C= (p.Leu1135=)
c.3337C= (p.Leu1113=)
c.3397C= (p.Leu1133=)
c.3343C= (p.Leu1115=)
c.3268C= (p.Leu1090=)
c.2863C= (p.Leu955=)
c.2221C= (p.Leu741=)
n.3646C=
10g.71709199C>GCA377143419CDH23c.3208C>G (p.Leu1070Val)
c.2639C>G
c.3223C>G (p.Leu1075Val)
c.1983C>G
c.3403C>G (p.Leu1135Val)
c.3337C>G (p.Leu1113Val)
c.3397C>G (p.Leu1133Val)
c.3343C>G (p.Leu1115Val)
c.3268C>G (p.Leu1090Val)
c.2863C>G (p.Leu955Val)
c.2221C>G (p.Leu741Val)
n.3646C>G
10g.71709199C>TCA5544512CDH23c.3208C>T (p.Leu1070=)
c.2639C>T
c.3223C>T (p.Leu1075=)
c.1983C>T
c.3403C>T (p.Leu1135=)
c.3337C>T (p.Leu1113=)
c.3397C>T (p.Leu1133=)
c.3343C>T (p.Leu1115=)
c.3268C>T (p.Leu1090=)
c.2863C>T (p.Leu955=)
c.2221C>T (p.Leu741=)
n.3646C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709200T>ACA377143421CDH23c.3209T>A (p.Leu1070Gln)
c.2640T>A
c.3224T>A (p.Leu1075Gln)
c.1984T>A
c.3404T>A (p.Leu1135Gln)
c.3338T>A (p.Leu1113Gln)
c.3398T>A (p.Leu1133Gln)
c.3344T>A (p.Leu1115Gln)
c.3269T>A (p.Leu1090Gln)
c.2864T>A (p.Leu955Gln)
c.2222T>A (p.Leu741Gln)
n.3647T>A
10g.71709200T>CCA209462257CDH23c.3209T>C (p.Leu1070Pro)
c.2640T>C
c.3224T>C (p.Leu1075Pro)
c.1984T>C
c.3404T>C (p.Leu1135Pro)
c.3338T>C (p.Leu1113Pro)
c.3398T>C (p.Leu1133Pro)
c.3344T>C (p.Leu1115Pro)
c.3269T>C (p.Leu1090Pro)
c.2864T>C (p.Leu955Pro)
c.2222T>C (p.Leu741Pro)
n.3647T>C
 dbSNP
10g.71709200T>GCA377143423CDH23c.3209T>G (p.Leu1070Arg)
c.2640T>G
c.3224T>G (p.Leu1075Arg)
c.1984T>G
c.3404T>G (p.Leu1135Arg)
c.3338T>G (p.Leu1113Arg)
c.3398T>G (p.Leu1133Arg)
c.3344T>G (p.Leu1115Arg)
c.3269T>G (p.Leu1090Arg)
c.2864T>G (p.Leu955Arg)
c.2222T>G (p.Leu741Arg)
n.3647T>G
10g.71709200T=CA1918840998CDH23c.3209T= (p.Leu1070=)
c.2640T=
c.3224T= (p.Leu1075=)
c.1984T=
c.3404T= (p.Leu1135=)
c.3338T= (p.Leu1113=)
c.3398T= (p.Leu1133=)
c.3344T= (p.Leu1115=)
c.3269T= (p.Leu1090=)
c.2864T= (p.Leu955=)
c.2222T= (p.Leu741=)
n.3647T=
10g.71709201G>ACA470062428CDH23c.3210G>A (p.Leu1070=)
c.2641G>A
c.3225G>A (p.Leu1075=)
c.1985G>A
c.3405G>A (p.Leu1135=)
c.3339G>A (p.Leu1113=)
c.3399G>A (p.Leu1133=)
c.3345G>A (p.Leu1115=)
c.3270G>A (p.Leu1090=)
c.2865G>A (p.Leu955=)
c.2223G>A (p.Leu741=)
n.3648G>A
10g.71709201G>CCA470062427CDH23c.3210G>C (p.Leu1070=)
c.2641G>C
c.3225G>C (p.Leu1075=)
c.1985G>C
c.3405G>C (p.Leu1135=)
c.3339G>C (p.Leu1113=)
c.3399G>C (p.Leu1133=)
c.3345G>C (p.Leu1115=)
c.3270G>C (p.Leu1090=)
c.2865G>C (p.Leu955=)
c.2223G>C (p.Leu741=)
n.3648G>C
10g.71709201G>TCA470062426CDH23c.3210G>T (p.Leu1070=)
c.2641G>T
c.3225G>T (p.Leu1075=)
c.1985G>T
c.3405G>T (p.Leu1135=)
c.3339G>T (p.Leu1113=)
c.3399G>T (p.Leu1133=)
c.3345G>T (p.Leu1115=)
c.3270G>T (p.Leu1090=)
c.2865G>T (p.Leu955=)
c.2223G>T (p.Leu741=)
n.3648G>T
10g.71709202G>ACA377143425CDH23c.3211G>A (p.Glu1071Lys)
c.2642G>A
c.3226G>A (p.Glu1076Lys)
c.1986G>A
c.3406G>A (p.Glu1136Lys)
c.3340G>A (p.Glu1114Lys)
c.3400G>A (p.Glu1134Lys)
c.3346G>A (p.Glu1116Lys)
c.3271G>A (p.Glu1091Lys)
c.2866G>A (p.Glu956Lys)
c.2224G>A (p.Glu742Lys)
n.3649G>A
 ClinVar dbSNP
10g.71709202G>CCA377143428CDH23c.3211G>C (p.Glu1071Gln)
c.2642G>C
c.3226G>C (p.Glu1076Gln)
c.1986G>C
c.3406G>C (p.Glu1136Gln)
c.3340G>C (p.Glu1114Gln)
c.3400G>C (p.Glu1134Gln)
c.3346G>C (p.Glu1116Gln)
c.3271G>C (p.Glu1091Gln)
c.2866G>C (p.Glu956Gln)
c.2224G>C (p.Glu742Gln)
n.3649G>C
10g.71709202G>TCA377143427CDH23c.3211G>T (p.Glu1071Ter)
c.2642G>T
c.3226G>T (p.Glu1076Ter)
c.1986G>T
c.3406G>T (p.Glu1136Ter)
c.3340G>T (p.Glu1114Ter)
c.3400G>T (p.Glu1134Ter)
c.3346G>T (p.Glu1116Ter)
c.3271G>T (p.Glu1091Ter)
c.2866G>T (p.Glu956Ter)
c.2224G>T (p.Glu742Ter)
n.3649G>T
10g.71709203A>CCA377143429CDH23c.3212A>C (p.Glu1071Ala)
c.2643A>C
c.3227A>C (p.Glu1076Ala)
c.1987A>C
c.3407A>C (p.Glu1136Ala)
c.3341A>C (p.Glu1114Ala)
c.3401A>C (p.Glu1134Ala)
c.3347A>C (p.Glu1116Ala)
c.3272A>C (p.Glu1091Ala)
c.2867A>C (p.Glu956Ala)
c.2225A>C (p.Glu742Ala)
n.3650A>C
10g.71709203A>GCA377143431CDH23c.3212A>G (p.Glu1071Gly)
c.2643A>G
c.3227A>G (p.Glu1076Gly)
c.1987A>G
c.3407A>G (p.Glu1136Gly)
c.3341A>G (p.Glu1114Gly)
c.3401A>G (p.Glu1134Gly)
c.3347A>G (p.Glu1116Gly)
c.3272A>G (p.Glu1091Gly)
c.2867A>G (p.Glu956Gly)
c.2225A>G (p.Glu742Gly)
n.3650A>G
10g.71709203A>TCA377143433CDH23c.3212A>T (p.Glu1071Val)
c.2643A>T
c.3227A>T (p.Glu1076Val)
c.1987A>T
c.3407A>T (p.Glu1136Val)
c.3341A>T (p.Glu1114Val)
c.3401A>T (p.Glu1134Val)
c.3347A>T (p.Glu1116Val)
c.3272A>T (p.Glu1091Val)
c.2867A>T (p.Glu956Val)
c.2225A>T (p.Glu742Val)
n.3650A>T
10g.71709204G>ACA5544513CDH23c.3213G>A (p.Glu1071=)
c.2644G>A
c.3228G>A (p.Glu1076=)
c.1988G>A
c.3408G>A (p.Glu1136=)
c.3342G>A (p.Glu1114=)
c.3402G>A (p.Glu1134=)
c.3348G>A (p.Glu1116=)
c.3273G>A (p.Glu1091=)
c.2868G>A (p.Glu956=)
c.2226G>A (p.Glu742=)
n.3651G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709204G>CCA377143435CDH23c.3213G>C (p.Glu1071Asp)
c.2644G>C
c.3228G>C (p.Glu1076Asp)
c.1988G>C
c.3408G>C (p.Glu1136Asp)
c.3342G>C (p.Glu1114Asp)
c.3402G>C (p.Glu1134Asp)
c.3348G>C (p.Glu1116Asp)
c.3273G>C (p.Glu1091Asp)
c.2868G>C (p.Glu956Asp)
c.2226G>C (p.Glu742Asp)
n.3651G>C
10g.71709204G=CA1918841000CDH23c.3213G= (p.Glu1071=)
c.2644G=
c.3228G= (p.Glu1076=)
c.1988G=
c.3408G= (p.Glu1136=)
c.3342G= (p.Glu1114=)
c.3402G= (p.Glu1134=)
c.3348G= (p.Glu1116=)
c.3273G= (p.Glu1091=)
c.2868G= (p.Glu956=)
c.2226G= (p.Glu742=)
n.3651G=
10g.71709204G>TCA377143437CDH23c.3213G>T (p.Glu1071Asp)
c.2644G>T
c.3228G>T (p.Glu1076Asp)
c.1988G>T
c.3408G>T (p.Glu1136Asp)
c.3342G>T (p.Glu1114Asp)
c.3402G>T (p.Glu1134Asp)
c.3348G>T (p.Glu1116Asp)
c.3273G>T (p.Glu1091Asp)
c.2868G>T (p.Glu956Asp)
c.2226G>T (p.Glu742Asp)
n.3651G>T
10g.71709205G>ACA377143439CDH23c.3214G>A (p.Ala1072Thr)
c.2645G>A
c.3229G>A (p.Ala1077Thr)
c.1989G>A
c.3409G>A (p.Ala1137Thr)
c.3343G>A (p.Ala1115Thr)
c.3403G>A (p.Ala1135Thr)
c.3349G>A (p.Ala1117Thr)
c.3274G>A (p.Ala1092Thr)
c.2869G>A (p.Ala957Thr)
c.2227G>A (p.Ala743Thr)
n.3652G>A
10g.71709205G>CCA377143440CDH23c.3214G>C (p.Ala1072Pro)
c.2645G>C
c.3229G>C (p.Ala1077Pro)
c.1989G>C
c.3409G>C (p.Ala1137Pro)
c.3343G>C (p.Ala1115Pro)
c.3403G>C (p.Ala1135Pro)
c.3349G>C (p.Ala1117Pro)
c.3274G>C (p.Ala1092Pro)
c.2869G>C (p.Ala957Pro)
c.2227G>C (p.Ala743Pro)
n.3652G>C
10g.71709205G>TCA377143442CDH23c.3214G>T (p.Ala1072Ser)
c.2645G>T
c.3229G>T (p.Ala1077Ser)
c.1989G>T
c.3409G>T (p.Ala1137Ser)
c.3343G>T (p.Ala1115Ser)
c.3403G>T (p.Ala1135Ser)
c.3349G>T (p.Ala1117Ser)
c.3274G>T (p.Ala1092Ser)
c.2869G>T (p.Ala957Ser)
c.2227G>T (p.Ala743Ser)
n.3652G>T
10g.71709206C>ACA377143443CDH23c.3215C>A (p.Ala1072Asp)
c.2646C>A
c.3230C>A (p.Ala1077Asp)
c.1990C>A
c.3410C>A (p.Ala1137Asp)
c.3344C>A (p.Ala1115Asp)
c.3404C>A (p.Ala1135Asp)
c.3350C>A (p.Ala1117Asp)
c.3275C>A (p.Ala1092Asp)
c.2870C>A (p.Ala957Asp)
c.2228C>A (p.Ala743Asp)
n.3653C>A
 ClinVar dbSNP
10g.71709206C>GCA377143444CDH23c.3215C>G (p.Ala1072Gly)
c.2646C>G
c.3230C>G (p.Ala1077Gly)
c.1990C>G
c.3410C>G (p.Ala1137Gly)
c.3344C>G (p.Ala1115Gly)
c.3404C>G (p.Ala1135Gly)
c.3350C>G (p.Ala1117Gly)
c.3275C>G (p.Ala1092Gly)
c.2870C>G (p.Ala957Gly)
c.2228C>G (p.Ala743Gly)
n.3653C>G
10g.71709206C>TCA377143446CDH23c.3215C>T (p.Ala1072Val)
c.2646C>T
c.3230C>T (p.Ala1077Val)
c.1990C>T
c.3410C>T (p.Ala1137Val)
c.3344C>T (p.Ala1115Val)
c.3404C>T (p.Ala1135Val)
c.3350C>T (p.Ala1117Val)
c.3275C>T (p.Ala1092Val)
c.2870C>T (p.Ala957Val)
c.2228C>T (p.Ala743Val)
n.3653C>T
10g.71709207C>ACA470062429CDH23c.3216C>A (p.Ala1072=)
c.2647C>A
c.3231C>A (p.Ala1077=)
c.1991C>A
c.3411C>A (p.Ala1137=)
c.3345C>A (p.Ala1115=)
c.3405C>A (p.Ala1135=)
c.3351C>A (p.Ala1117=)
c.3276C>A (p.Ala1092=)
c.2871C>A (p.Ala957=)
c.2229C>A (p.Ala743=)
n.3654C>A
10g.71709207C>GCA470062430CDH23c.3216C>G (p.Ala1072=)
c.2647C>G
c.3231C>G (p.Ala1077=)
c.1991C>G
c.3411C>G (p.Ala1137=)
c.3345C>G (p.Ala1115=)
c.3405C>G (p.Ala1135=)
c.3351C>G (p.Ala1117=)
c.3276C>G (p.Ala1092=)
c.2871C>G (p.Ala957=)
c.2229C>G (p.Ala743=)
n.3654C>G
10g.71709207C>TCA470062432CDH23c.3216C>T (p.Ala1072=)
c.2647C>T
c.3231C>T (p.Ala1077=)
c.1991C>T
c.3411C>T (p.Ala1137=)
c.3345C>T (p.Ala1115=)
c.3405C>T (p.Ala1135=)
c.3351C>T (p.Ala1117=)
c.3276C>T (p.Ala1092=)
c.2871C>T (p.Ala957=)
c.2229C>T (p.Ala743=)
n.3654C>T
10g.71709208A=CA1918841006CDH23c.3217A= (p.Ile1073=)
c.2648A=
c.3232A= (p.Ile1078=)
c.1992A=
c.3412A= (p.Ile1138=)
c.3346A= (p.Ile1116=)
c.3406A= (p.Ile1136=)
c.3352A= (p.Ile1118=)
c.3277A= (p.Ile1093=)
c.2872A= (p.Ile958=)
c.2230A= (p.Ile744=)
n.3655A=
10g.71709208A>CCA377143451CDH23c.3217A>C (p.Ile1073Leu)
c.2648A>C
c.3232A>C (p.Ile1078Leu)
c.1992A>C
c.3412A>C (p.Ile1138Leu)
c.3346A>C (p.Ile1116Leu)
c.3406A>C (p.Ile1136Leu)
c.3352A>C (p.Ile1118Leu)
c.3277A>C (p.Ile1093Leu)
c.2872A>C (p.Ile958Leu)
c.2230A>C (p.Ile744Leu)
n.3655A>C
10g.71709208A>GCA377143448CDH23c.3217A>G (p.Ile1073Val)
c.2648A>G
c.3232A>G (p.Ile1078Val)
c.1992A>G
c.3412A>G (p.Ile1138Val)
c.3346A>G (p.Ile1116Val)
c.3406A>G (p.Ile1136Val)
c.3352A>G (p.Ile1118Val)
c.3277A>G (p.Ile1093Val)
c.2872A>G (p.Ile958Val)
c.2230A>G (p.Ile744Val)
n.3655A>G
 dbSNP gnomAD v2 gnomAD v4
10g.71709208A>TCA377143449CDH23c.3217A>T (p.Ile1073Phe)
c.2648A>T
c.3232A>T (p.Ile1078Phe)
c.1992A>T
c.3412A>T (p.Ile1138Phe)
c.3346A>T (p.Ile1116Phe)
c.3406A>T (p.Ile1136Phe)
c.3352A>T (p.Ile1118Phe)
c.3277A>T (p.Ile1093Phe)
c.2872A>T (p.Ile958Phe)
c.2230A>T (p.Ile744Phe)
n.3655A>T
10g.71709209T>ACA377143452CDH23c.3218T>A (p.Ile1073Asn)
c.2649T>A
c.3233T>A (p.Ile1078Asn)
c.1993T>A
c.3413T>A (p.Ile1138Asn)
c.3347T>A (p.Ile1116Asn)
c.3407T>A (p.Ile1136Asn)
c.3353T>A (p.Ile1118Asn)
c.3278T>A (p.Ile1093Asn)
c.2873T>A (p.Ile958Asn)
c.2231T>A (p.Ile744Asn)
n.3656T>A
10g.71709209T>CCA377143453CDH23c.3218T>C (p.Ile1073Thr)
c.2649T>C
c.3233T>C (p.Ile1078Thr)
c.1993T>C
c.3413T>C (p.Ile1138Thr)
c.3347T>C (p.Ile1116Thr)
c.3407T>C (p.Ile1136Thr)
c.3353T>C (p.Ile1118Thr)
c.3278T>C (p.Ile1093Thr)
c.2873T>C (p.Ile958Thr)
c.2231T>C (p.Ile744Thr)
n.3656T>C
10g.71709209T>GCA377143455CDH23c.3218T>G (p.Ile1073Ser)
c.2649T>G
c.3233T>G (p.Ile1078Ser)
c.1993T>G
c.3413T>G (p.Ile1138Ser)
c.3347T>G (p.Ile1116Ser)
c.3407T>G (p.Ile1136Ser)
c.3353T>G (p.Ile1118Ser)
c.3278T>G (p.Ile1093Ser)
c.2873T>G (p.Ile958Ser)
c.2231T>G (p.Ile744Ser)
n.3656T>G
10g.71709210C>ACA470062437CDH23c.3219C>A (p.Ile1073=)
c.2650C>A
c.3234C>A (p.Ile1078=)
c.1994C>A
c.3414C>A (p.Ile1138=)
c.3348C>A (p.Ile1116=)
c.3408C>A (p.Ile1136=)
c.3354C>A (p.Ile1118=)
c.3279C>A (p.Ile1093=)
c.2874C>A (p.Ile958=)
c.2232C>A (p.Ile744=)
n.3657C>A
10g.71709210C=CA1918841014CDH23c.3219C= (p.Ile1073=)
c.2650C=
c.3234C= (p.Ile1078=)
c.1994C=
c.3414C= (p.Ile1138=)
c.3348C= (p.Ile1116=)
c.3408C= (p.Ile1136=)
c.3354C= (p.Ile1118=)
c.3279C= (p.Ile1093=)
c.2874C= (p.Ile958=)
c.2232C= (p.Ile744=)
n.3657C=
10g.71709210C>GCA377143456CDH23c.3219C>G (p.Ile1073Met)
c.2650C>G
c.3234C>G (p.Ile1078Met)
c.1994C>G
c.3414C>G (p.Ile1138Met)
c.3348C>G (p.Ile1116Met)
c.3408C>G (p.Ile1136Met)
c.3354C>G (p.Ile1118Met)
c.3279C>G (p.Ile1093Met)
c.2874C>G (p.Ile958Met)
c.2232C>G (p.Ile744Met)
n.3657C>G
10g.71709210C>TCA5544514CDH23c.3219C>T (p.Ile1073=)
c.2650C>T
c.3234C>T (p.Ile1078=)
c.1994C>T
c.3414C>T (p.Ile1138=)
c.3348C>T (p.Ile1116=)
c.3408C>T (p.Ile1136=)
c.3354C>T (p.Ile1118=)
c.3279C>T (p.Ile1093=)
c.2874C>T (p.Ile958=)
c.2232C>T (p.Ile744=)
n.3657C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.71709211G>ACA5544515CDH23c.3220G>A (p.Asp1074Asn)
c.2651G>A
c.3235G>A (p.Asp1079Asn)
c.1995G>A
c.3415G>A (p.Asp1139Asn)
c.3349G>A (p.Asp1117Asn)
c.3409G>A (p.Asp1137Asn)
c.3355G>A (p.Asp1119Asn)
c.3280G>A (p.Asp1094Asn)
c.2875G>A (p.Asp959Asn)
c.2233G>A (p.Asp745Asn)
n.3658G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709211G>CCA377143460CDH23c.3220G>C (p.Asp1074His)
c.2651G>C
c.3235G>C (p.Asp1079His)
c.1995G>C
c.3415G>C (p.Asp1139His)
c.3349G>C (p.Asp1117His)
c.3409G>C (p.Asp1137His)
c.3355G>C (p.Asp1119His)
c.3280G>C (p.Asp1094His)
c.2875G>C (p.Asp959His)
c.2233G>C (p.Asp745His)
n.3658G>C
10g.71709211G=CA1918841018CDH23c.3220G= (p.Asp1074=)
c.2651G=
c.3235G= (p.Asp1079=)
c.1995G=
c.3415G= (p.Asp1139=)
c.3349G= (p.Asp1117=)
c.3409G= (p.Asp1137=)
c.3355G= (p.Asp1119=)
c.3280G= (p.Asp1094=)
c.2875G= (p.Asp959=)
c.2233G= (p.Asp745=)
n.3658G=
10g.71709211G>TCA377143461CDH23c.3220G>T (p.Asp1074Tyr)
c.2651G>T
c.3235G>T (p.Asp1079Tyr)
c.1995G>T
c.3415G>T (p.Asp1139Tyr)
c.3349G>T (p.Asp1117Tyr)
c.3409G>T (p.Asp1137Tyr)
c.3355G>T (p.Asp1119Tyr)
c.3280G>T (p.Asp1094Tyr)
c.2875G>T (p.Asp959Tyr)
c.2233G>T (p.Asp745Tyr)
n.3658G>T
 COSMIC COSMIC
10g.71709211_71709212insACA2788479385CDH23c.3220_3220+1insA (n.3220_3220+1insA)
c.2651_2651+1insA
c.3235_3235+1insA (n.3235_3235+1insA)
c.1995_1995+1insA
c.3415_3415+1insA (n.3415_3415+1insA)
c.3349_3349+1insA (n.3349_3349+1insA)
c.3409_3409+1insA (n.3409_3409+1insA)
c.3355_3355+1insA (n.3355_3355+1insA)
c.3280_3280+1insA (n.3280_3280+1insA)
c.2875_2875+1insA (n.2875_2875+1insA)
c.2233_2233+1insA (n.2233_2233+1insA)
n.3658_3658+1insA
10g.71709212G>ACA377143462CDH23c.3220+1G>A (n.3220+1G>A)
c.2651+1G>A
c.3235+1G>A (n.3235+1G>A)
c.1995+1G>A
c.3415+1G>A (n.3415+1G>A)
c.3349+1G>A (n.3349+1G>A)
c.3409+1G>A (n.3409+1G>A)
c.3355+1G>A (n.3355+1G>A)
c.3280+1G>A (n.3280+1G>A)
c.2875+1G>A (n.2875+1G>A)
c.2233+1G>A (n.2233+1G>A)
n.3658+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.71709212G>CCA377143464CDH23c.3220+1G>C (n.3220+1G>C)
c.2651+1G>C
c.3235+1G>C (n.3235+1G>C)
c.1995+1G>C
c.3415+1G>C (n.3415+1G>C)
c.3349+1G>C (n.3349+1G>C)
c.3409+1G>C (n.3409+1G>C)
c.3355+1G>C (n.3355+1G>C)
c.3280+1G>C (n.3280+1G>C)
c.2875+1G>C (n.2875+1G>C)
c.2233+1G>C (n.2233+1G>C)
n.3658+1G>C
10g.71709212G=CA1918841022CDH23c.3220+1G= (n.3220+1G=)
c.2651+1G=
c.3235+1G= (n.3235+1G=)
c.1995+1G=
c.3415+1G= (n.3415+1G=)
c.3349+1G= (n.3349+1G=)
c.3409+1G= (n.3409+1G=)
c.3355+1G= (n.3355+1G=)
c.3280+1G= (n.3280+1G=)
c.2875+1G= (n.2875+1G=)
c.2233+1G= (n.2233+1G=)
n.3658+1G=
10g.71709212G>TCA377143466CDH23c.3220+1G>T (n.3220+1G>T)
c.2651+1G>T
c.3235+1G>T (n.3235+1G>T)
c.1995+1G>T
c.3415+1G>T (n.3415+1G>T)
c.3349+1G>T (n.3349+1G>T)
c.3409+1G>T (n.3409+1G>T)
c.3355+1G>T (n.3355+1G>T)
c.3280+1G>T (n.3280+1G>T)
c.2875+1G>T (n.2875+1G>T)
c.2233+1G>T (n.2233+1G>T)
n.3658+1G>T
 ClinVar dbSNP gnomAD v4
10g.71709213T>ACA377143468CDH23c.3220+2T>A (n.3220+2T>A)
c.2651+2T>A
c.3235+2T>A (n.3235+2T>A)
c.1995+2T>A
c.3415+2T>A (n.3415+2T>A)
c.3349+2T>A (n.3349+2T>A)
c.3409+2T>A (n.3409+2T>A)
c.3355+2T>A (n.3355+2T>A)
c.3280+2T>A (n.3280+2T>A)
c.2875+2T>A (n.2875+2T>A)
c.2233+2T>A (n.2233+2T>A)
n.3658+2T>A
10g.71709213T>CCA377143470CDH23c.3220+2T>C (n.3220+2T>C)
c.2651+2T>C
c.3235+2T>C (n.3235+2T>C)
c.1995+2T>C
c.3415+2T>C (n.3415+2T>C)
c.3349+2T>C (n.3349+2T>C)
c.3409+2T>C (n.3409+2T>C)
c.3355+2T>C (n.3355+2T>C)
c.3280+2T>C (n.3280+2T>C)
c.2875+2T>C (n.2875+2T>C)
c.2233+2T>C (n.2233+2T>C)
n.3658+2T>C
10g.71709213T>GCA377143467CDH23c.3220+2T>G (n.3220+2T>G)
c.2651+2T>G
c.3235+2T>G (n.3235+2T>G)
c.1995+2T>G
c.3415+2T>G (n.3415+2T>G)
c.3349+2T>G (n.3349+2T>G)
c.3409+2T>G (n.3409+2T>G)
c.3355+2T>G (n.3355+2T>G)
c.3280+2T>G (n.3280+2T>G)
c.2875+2T>G (n.2875+2T>G)
c.2233+2T>G (n.2233+2T>G)
n.3658+2T>G
10g.71709215T>CCA2609570109CDH23c.3220+4T>C (n.3220+4T>C)
c.2651+4T>C
c.3235+4T>C (n.3235+4T>C)
c.1995+4T>C
c.3415+4T>C (n.3415+4T>C)
c.3349+4T>C (n.3349+4T>C)
c.3409+4T>C (n.3409+4T>C)
c.3355+4T>C (n.3355+4T>C)
c.3280+4T>C (n.3280+4T>C)
c.2875+4T>C (n.2875+4T>C)
c.2233+4T>C (n.2233+4T>C)
n.3658+4T>C
 gnomAD v4
10g.71709216G>ACA209462279CDH23c.3220+5G>A (n.3220+5G>A)
c.2651+5G>A
c.3235+5G>A (n.3235+5G>A)
c.1995+5G>A
c.3415+5G>A (n.3415+5G>A)
c.3349+5G>A (n.3349+5G>A)
c.3409+5G>A (n.3409+5G>A)
c.3355+5G>A (n.3355+5G>A)
c.3280+5G>A (n.3280+5G>A)
c.2875+5G>A (n.2875+5G>A)
c.2233+5G>A (n.2233+5G>A)
n.3658+5G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.71709216G=CA1918841027CDH23c.3220+5G= (n.3220+5G=)
c.2651+5G=
c.3235+5G= (n.3235+5G=)
c.1995+5G=
c.3415+5G= (n.3415+5G=)
c.3349+5G= (n.3349+5G=)
c.3409+5G= (n.3409+5G=)
c.3355+5G= (n.3355+5G=)
c.3280+5G= (n.3280+5G=)
c.2875+5G= (n.2875+5G=)
c.2233+5G= (n.2233+5G=)
n.3658+5G=
10g.71709216G>TCA2580081888CDH23c.3220+5G>T (n.3220+5G>T)
c.2651+5G>T
c.3235+5G>T (n.3235+5G>T)
c.1995+5G>T
c.3415+5G>T (n.3415+5G>T)
c.3349+5G>T (n.3349+5G>T)
c.3409+5G>T (n.3409+5G>T)
c.3355+5G>T (n.3355+5G>T)
c.3280+5G>T (n.3280+5G>T)
c.2875+5G>T (n.2875+5G>T)
c.2233+5G>T (n.2233+5G>T)
n.3658+5G>T
 ClinVar gnomAD v4
10g.71709217C>ACA2609570117CDH23c.3220+6C>A (n.3220+6C>A)
c.2651+6C>A
c.3235+6C>A (n.3235+6C>A)
c.1995+6C>A
c.3415+6C>A (n.3415+6C>A)
c.3349+6C>A (n.3349+6C>A)
c.3409+6C>A (n.3409+6C>A)
c.3355+6C>A (n.3355+6C>A)
c.3280+6C>A (n.3280+6C>A)
c.2875+6C>A (n.2875+6C>A)
c.2233+6C>A (n.2233+6C>A)
n.3658+6C>A
 gnomAD v4
10g.71709219C>TCA2609570118CDH23c.3220+8C>T (n.3220+8C>T)
c.2651+8C>T
c.3235+8C>T (n.3235+8C>T)
c.1995+8C>T
c.3415+8C>T (n.3415+8C>T)
c.3349+8C>T (n.3349+8C>T)
c.3409+8C>T (n.3409+8C>T)
c.3355+8C>T (n.3355+8C>T)
c.3280+8C>T (n.3280+8C>T)
c.2875+8C>T (n.2875+8C>T)
c.2233+8C>T (n.2233+8C>T)
n.3658+8C>T
 gnomAD v4
10g.71709220C>TCA2609570119CDH23c.3220+9C>T (n.3220+9C>T)
c.2651+9C>T
c.3235+9C>T (n.3235+9C>T)
c.1995+9C>T
c.3415+9C>T (n.3415+9C>T)
c.3349+9C>T (n.3349+9C>T)
c.3409+9C>T (n.3409+9C>T)
c.3355+9C>T (n.3355+9C>T)
c.3280+9C>T (n.3280+9C>T)
c.2875+9C>T (n.2875+9C>T)
c.2233+9C>T (n.2233+9C>T)
n.3658+9C>T
 gnomAD v4
10g.71709220_71709221insTGGCA2609570121CDH23c.3220+9_3220+10insTGG (n.3220+9_3220+10insTGG)
c.2651+9_2651+10insTGG
c.3235+9_3235+10insTGG (n.3235+9_3235+10insTGG)
c.1995+9_1995+10insTGG
c.3415+9_3415+10insTGG (n.3415+9_3415+10insTGG)
c.3349+9_3349+10insTGG (n.3349+9_3349+10insTGG)
c.3409+9_3409+10insTGG (n.3409+9_3409+10insTGG)
c.3355+9_3355+10insTGG (n.3355+9_3355+10insTGG)
c.3280+9_3280+10insTGG (n.3280+9_3280+10insTGG)
c.2875+9_2875+10insTGG (n.2875+9_2875+10insTGG)
c.2233+9_2233+10insTGG (n.2233+9_2233+10insTGG)
n.3658+9_3658+10insTGG
 gnomAD v4
10g.71709221A=CA1918841031CDH23c.3220+10A= (n.3220+10A=)
c.2651+10A=
c.3235+10A= (n.3235+10A=)
c.1995+10A=
c.3415+10A= (n.3415+10A=)
c.3349+10A= (n.3349+10A=)
c.3409+10A= (n.3409+10A=)
c.3355+10A= (n.3355+10A=)
c.3280+10A= (n.3280+10A=)
c.2875+10A= (n.2875+10A=)
c.2233+10A= (n.2233+10A=)
n.3658+10A=
10g.71709221A>CCA1918841033CDH23c.3220+10A>C (n.3220+10A>C)
c.2651+10A>C
c.3235+10A>C (n.3235+10A>C)
c.1995+10A>C
c.3415+10A>C (n.3415+10A>C)
c.3349+10A>C (n.3349+10A>C)
c.3409+10A>C (n.3409+10A>C)
c.3355+10A>C (n.3355+10A>C)
c.3280+10A>C (n.3280+10A>C)
c.2875+10A>C (n.2875+10A>C)
c.2233+10A>C (n.2233+10A>C)
n.3658+10A>C
 dbSNP gnomAD v3 gnomAD v4
10g.71709221A>GCA668080020CDH23c.3220+10A>G (n.3220+10A>G)
c.2651+10A>G
c.3235+10A>G (n.3235+10A>G)
c.1995+10A>G
c.3415+10A>G (n.3415+10A>G)
c.3349+10A>G (n.3349+10A>G)
c.3409+10A>G (n.3409+10A>G)
c.3355+10A>G (n.3355+10A>G)
c.3280+10A>G (n.3280+10A>G)
c.2875+10A>G (n.2875+10A>G)
c.2233+10A>G (n.2233+10A>G)
n.3658+10A>G
 ClinVar dbSNP gnomAD v4
10g.71709222G>ACA2609570127CDH23c.3220+11G>A (n.3220+11G>A)
c.2651+11G>A
c.3235+11G>A (n.3235+11G>A)
c.1995+11G>A
c.3415+11G>A (n.3415+11G>A)
c.3349+11G>A (n.3349+11G>A)
c.3409+11G>A (n.3409+11G>A)
c.3355+11G>A (n.3355+11G>A)
c.3280+11G>A (n.3280+11G>A)
c.2875+11G>A (n.2875+11G>A)
c.2233+11G>A (n.2233+11G>A)
n.3658+11G>A
 gnomAD v4
10g.71709222G=CA1918841038CDH23c.3220+11G= (n.3220+11G=)
c.2651+11G=
c.3235+11G= (n.3235+11G=)
c.1995+11G=
c.3415+11G= (n.3415+11G=)
c.3349+11G= (n.3349+11G=)
c.3409+11G= (n.3409+11G=)
c.3355+11G= (n.3355+11G=)
c.3280+11G= (n.3280+11G=)
c.2875+11G= (n.2875+11G=)
c.2233+11G= (n.2233+11G=)
n.3658+11G=
10g.71709222G>TCA594320697CDH23c.3220+11G>T (n.3220+11G>T)
c.2651+11G>T
c.3235+11G>T (n.3235+11G>T)
c.1995+11G>T
c.3415+11G>T (n.3415+11G>T)
c.3349+11G>T (n.3349+11G>T)
c.3409+11G>T (n.3409+11G>T)
c.3355+11G>T (n.3355+11G>T)
c.3280+11G>T (n.3280+11G>T)
c.2875+11G>T (n.2875+11G>T)
c.2233+11G>T (n.2233+11G>T)
n.3658+11G>T
 dbSNP gnomAD v2 gnomAD v4
10g.71709222_71709223insGCCATCGGTTGGTGGGCA2609570126CDH23c.3220+11_3220+12insGCCATCGGTTGGTGGG (n.3220+11_3220+12insGCCATCGGTTGGTGGG)
c.2651+11_2651+12insGCCATCGGTTGGTGGG
c.3235+11_3235+12insGCCATCGGTTGGTGGG (n.3235+11_3235+12insGCCATCGGTTGGTGGG)
c.1995+11_1995+12insGCCATCGGTTGGTGGG
c.3415+11_3415+12insGCCATCGGTTGGTGGG (n.3415+11_3415+12insGCCATCGGTTGGTGGG)
c.3349+11_3349+12insGCCATCGGTTGGTGGG (n.3349+11_3349+12insGCCATCGGTTGGTGGG)
c.3409+11_3409+12insGCCATCGGTTGGTGGG (n.3409+11_3409+12insGCCATCGGTTGGTGGG)
c.3355+11_3355+12insGCCATCGGTTGGTGGG (n.3355+11_3355+12insGCCATCGGTTGGTGGG)
c.3280+11_3280+12insGCCATCGGTTGGTGGG (n.3280+11_3280+12insGCCATCGGTTGGTGGG)
c.2875+11_2875+12insGCCATCGGTTGGTGGG (n.2875+11_2875+12insGCCATCGGTTGGTGGG)
c.2233+11_2233+12insGCCATCGGTTGGTGGG (n.2233+11_2233+12insGCCATCGGTTGGTGGG)
n.3658+11_3658+12insGCCATCGGTTGGTGGG
 gnomAD v4
10g.71709223T>GCA2574574954CDH23c.3220+12T>G (n.3220+12T>G)
c.2651+12T>G
c.3235+12T>G (n.3235+12T>G)
c.1995+12T>G
c.3415+12T>G (n.3415+12T>G)
c.3349+12T>G (n.3349+12T>G)
c.3409+12T>G (n.3409+12T>G)
c.3355+12T>G (n.3355+12T>G)
c.3280+12T>G (n.3280+12T>G)
c.2875+12T>G (n.2875+12T>G)
c.2233+12T>G (n.2233+12T>G)
n.3658+12T>G
10g.71709224C>ACA2609570129CDH23c.3220+13C>A (n.3220+13C>A)
c.2651+13C>A
c.3235+13C>A (n.3235+13C>A)
c.1995+13C>A
c.3415+13C>A (n.3415+13C>A)
c.3349+13C>A (n.3349+13C>A)
c.3409+13C>A (n.3409+13C>A)
c.3355+13C>A (n.3355+13C>A)
c.3280+13C>A (n.3280+13C>A)
c.2875+13C>A (n.2875+13C>A)
c.2233+13C>A (n.2233+13C>A)
n.3658+13C>A
 gnomAD v4
10g.71709224C=CA1918841040CDH23c.3220+13C= (n.3220+13C=)
c.2651+13C=
c.3235+13C= (n.3235+13C=)
c.1995+13C=
c.3415+13C= (n.3415+13C=)
c.3349+13C= (n.3349+13C=)
c.3409+13C= (n.3409+13C=)
c.3355+13C= (n.3355+13C=)
c.3280+13C= (n.3280+13C=)
c.2875+13C= (n.2875+13C=)
c.2233+13C= (n.2233+13C=)
n.3658+13C=
10g.71709224C>TCA5544516CDH23c.3220+13C>T (n.3220+13C>T)
c.2651+13C>T
c.3235+13C>T (n.3235+13C>T)
c.1995+13C>T
c.3415+13C>T (n.3415+13C>T)
c.3349+13C>T (n.3349+13C>T)
c.3409+13C>T (n.3409+13C>T)
c.3355+13C>T (n.3355+13C>T)
c.3280+13C>T (n.3280+13C>T)
c.2875+13C>T (n.2875+13C>T)
c.2233+13C>T (n.2233+13C>T)
n.3658+13C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709226C>ACA2580081891CDH23c.3220+15C>A (n.3220+15C>A)
c.2651+15C>A
c.3235+15C>A (n.3235+15C>A)
c.1995+15C>A
c.3415+15C>A (n.3415+15C>A)
c.3349+15C>A (n.3349+15C>A)
c.3409+15C>A (n.3409+15C>A)
c.3355+15C>A (n.3355+15C>A)
c.3280+15C>A (n.3280+15C>A)
c.2875+15C>A (n.2875+15C>A)
c.2233+15C>A (n.2233+15C>A)
n.3658+15C>A
 ClinVar gnomAD v4
10g.71709226C=CA1918841049CDH23c.3220+15C= (n.3220+15C=)
c.2651+15C=
c.3235+15C= (n.3235+15C=)
c.1995+15C=
c.3415+15C= (n.3415+15C=)
c.3349+15C= (n.3349+15C=)
c.3409+15C= (n.3409+15C=)
c.3355+15C= (n.3355+15C=)
c.3280+15C= (n.3280+15C=)
c.2875+15C= (n.2875+15C=)
c.2233+15C= (n.2233+15C=)
n.3658+15C=
10g.71709226C>GCA668080027CDH23c.3220+15C>G (n.3220+15C>G)
c.2651+15C>G
c.3235+15C>G (n.3235+15C>G)
c.1995+15C>G
c.3415+15C>G (n.3415+15C>G)
c.3349+15C>G (n.3349+15C>G)
c.3409+15C>G (n.3409+15C>G)
c.3355+15C>G (n.3355+15C>G)
c.3280+15C>G (n.3280+15C>G)
c.2875+15C>G (n.2875+15C>G)
c.2233+15C>G (n.2233+15C>G)
n.3658+15C>G
 dbSNP gnomAD v3 gnomAD v4
10g.71709226C>TCA175481CDH23c.3220+15C>T (n.3220+15C>T)
c.2651+15C>T
c.3235+15C>T (n.3235+15C>T)
c.1995+15C>T
c.3415+15C>T (n.3415+15C>T)
c.3349+15C>T (n.3349+15C>T)
c.3409+15C>T (n.3409+15C>T)
c.3355+15C>T (n.3355+15C>T)
c.3280+15C>T (n.3280+15C>T)
c.2875+15C>T (n.2875+15C>T)
c.2233+15C>T (n.2233+15C>T)
n.3658+15C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71709227G>ACA5544517CDH23c.3220+16G>A (n.3220+16G>A)
c.2651+16G>A
c.3235+16G>A (n.3235+16G>A)
c.1995+16G>A
c.3415+16G>A (n.3415+16G>A)
c.3349+16G>A (n.3349+16G>A)
c.3409+16G>A (n.3409+16G>A)
c.3355+16G>A (n.3355+16G>A)
c.3280+16G>A (n.3280+16G>A)
c.2875+16G>A (n.2875+16G>A)
c.2233+16G>A (n.2233+16G>A)
n.3658+16G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709227G>CCA2788479387CDH23c.3220+16G>C (n.3220+16G>C)
c.2651+16G>C
c.3235+16G>C (n.3235+16G>C)
c.1995+16G>C
c.3415+16G>C (n.3415+16G>C)
c.3349+16G>C (n.3349+16G>C)
c.3409+16G>C (n.3409+16G>C)
c.3355+16G>C (n.3355+16G>C)
c.3280+16G>C (n.3280+16G>C)
c.2875+16G>C (n.2875+16G>C)
c.2233+16G>C (n.2233+16G>C)
n.3658+16G>C
10g.71709227G=CA1918841052CDH23c.3220+16G= (n.3220+16G=)
c.2651+16G=
c.3235+16G= (n.3235+16G=)
c.1995+16G=
c.3415+16G= (n.3415+16G=)
c.3349+16G= (n.3349+16G=)
c.3409+16G= (n.3409+16G=)
c.3355+16G= (n.3355+16G=)
c.3280+16G= (n.3280+16G=)
c.2875+16G= (n.2875+16G=)
c.2233+16G= (n.2233+16G=)
n.3658+16G=
10g.71709227G>TCA2609570146CDH23c.3220+16G>T (n.3220+16G>T)
c.2651+16G>T
c.3235+16G>T (n.3235+16G>T)
c.1995+16G>T
c.3415+16G>T (n.3415+16G>T)
c.3349+16G>T (n.3349+16G>T)
c.3409+16G>T (n.3409+16G>T)
c.3355+16G>T (n.3355+16G>T)
c.3280+16G>T (n.3280+16G>T)
c.2875+16G>T (n.2875+16G>T)
c.2233+16G>T (n.2233+16G>T)
n.3658+16G>T
 gnomAD v4
10g.71709228delCA2574574957CDH23c.3220+17del (n.3220+17del)
c.2651+17del
c.3235+17del (n.3235+17del)
c.1995+17del
c.3415+17del (n.3415+17del)
c.3349+17del (n.3349+17del)
c.3409+17del (n.3409+17del)
c.3355+17del (n.3355+17del)
c.3280+17del (n.3280+17del)
c.2875+17del (n.2875+17del)
c.2233+17del (n.2233+17del)
n.3658+17del
10g.71709228C>ACA2574574955CDH23c.3220+17C>A (n.3220+17C>A)
c.2651+17C>A
c.3235+17C>A (n.3235+17C>A)
c.1995+17C>A
c.3415+17C>A (n.3415+17C>A)
c.3349+17C>A (n.3349+17C>A)
c.3409+17C>A (n.3409+17C>A)
c.3355+17C>A (n.3355+17C>A)
c.3280+17C>A (n.3280+17C>A)
c.2875+17C>A (n.2875+17C>A)
c.2233+17C>A (n.2233+17C>A)
n.3658+17C>A
10g.71709228C>TCA2574574956CDH23c.3220+17C>T (n.3220+17C>T)
c.2651+17C>T
c.3235+17C>T (n.3235+17C>T)
c.1995+17C>T
c.3415+17C>T (n.3415+17C>T)
c.3349+17C>T (n.3349+17C>T)
c.3409+17C>T (n.3409+17C>T)
c.3355+17C>T (n.3355+17C>T)
c.3280+17C>T (n.3280+17C>T)
c.2875+17C>T (n.2875+17C>T)
c.2233+17C>T (n.2233+17C>T)
n.3658+17C>T
 ClinVar gnomAD v4
10g.71709229A>CCA2739275792CDH23c.3220+18A>C (n.3220+18A>C)
c.2651+18A>C
c.3235+18A>C (n.3235+18A>C)
c.1995+18A>C
c.3415+18A>C (n.3415+18A>C)
c.3349+18A>C (n.3349+18A>C)
c.3409+18A>C (n.3409+18A>C)
c.3355+18A>C (n.3355+18A>C)
c.3280+18A>C (n.3280+18A>C)
c.2875+18A>C (n.2875+18A>C)
c.2233+18A>C (n.2233+18A>C)
n.3658+18A>C
 ClinVar
10g.71709230C>ACA2609570157CDH23c.3220+19C>A (n.3220+19C>A)
c.2651+19C>A
c.3235+19C>A (n.3235+19C>A)
c.1995+19C>A
c.3415+19C>A (n.3415+19C>A)
c.3349+19C>A (n.3349+19C>A)
c.3409+19C>A (n.3409+19C>A)
c.3355+19C>A (n.3355+19C>A)
c.3280+19C>A (n.3280+19C>A)
c.2875+19C>A (n.2875+19C>A)
c.2233+19C>A (n.2233+19C>A)
n.3658+19C>A
 gnomAD v4
10g.71709232delCA2609570154CDH23c.3220+21del (n.3220+21del)
c.2651+21del
c.3235+21del (n.3235+21del)
c.1995+21del
c.3415+21del (n.3415+21del)
c.3349+21del (n.3349+21del)
c.3409+21del (n.3409+21del)
c.3355+21del (n.3355+21del)
c.3280+21del (n.3280+21del)
c.2875+21del (n.2875+21del)
c.2233+21del (n.2233+21del)
n.3658+21del
 gnomAD v4
10g.71709231C>ACA2574574958CDH23c.3220+20C>A (n.3220+20C>A)
c.2651+20C>A
c.3235+20C>A (n.3235+20C>A)
c.1995+20C>A
c.3415+20C>A (n.3415+20C>A)
c.3349+20C>A (n.3349+20C>A)
c.3409+20C>A (n.3409+20C>A)
c.3355+20C>A (n.3355+20C>A)
c.3280+20C>A (n.3280+20C>A)
c.2875+20C>A (n.2875+20C>A)
c.2233+20C>A (n.2233+20C>A)
n.3658+20C>A
 gnomAD v4
10g.71709231C>GCA2739275793CDH23c.3220+20C>G (n.3220+20C>G)
c.2651+20C>G
c.3235+20C>G (n.3235+20C>G)
c.1995+20C>G
c.3415+20C>G (n.3415+20C>G)
c.3349+20C>G (n.3349+20C>G)
c.3409+20C>G (n.3409+20C>G)
c.3355+20C>G (n.3355+20C>G)
c.3280+20C>G (n.3280+20C>G)
c.2875+20C>G (n.2875+20C>G)
c.2233+20C>G (n.2233+20C>G)
n.3658+20C>G
 ClinVar
10g.71709234_71709236delCA2609570159CDH23c.3220+23_3220+25del (n.3220+23_3220+25del)
c.2651+23_2651+25del
c.3235+23_3235+25del (n.3235+23_3235+25del)
c.1995+23_1995+25del
c.3415+23_3415+25del (n.3415+23_3415+25del)
c.3349+23_3349+25del (n.3349+23_3349+25del)
c.3409+23_3409+25del (n.3409+23_3409+25del)
c.3355+23_3355+25del (n.3355+23_3355+25del)
c.3280+23_3280+25del (n.3280+23_3280+25del)
c.2875+23_2875+25del (n.2875+23_2875+25del)
c.2233+23_2233+25del (n.2233+23_2233+25del)
n.3658+23_3658+25del
 gnomAD v4
10g.71709232C>ACA2788479388CDH23c.3220+21C>A (n.3220+21C>A)
c.2651+21C>A
c.3235+21C>A (n.3235+21C>A)
c.1995+21C>A
c.3415+21C>A (n.3415+21C>A)
c.3349+21C>A (n.3349+21C>A)
c.3409+21C>A (n.3409+21C>A)
c.3355+21C>A (n.3355+21C>A)
c.3280+21C>A (n.3280+21C>A)
c.2875+21C>A (n.2875+21C>A)
c.2233+21C>A (n.2233+21C>A)
n.3658+21C>A
10g.71709233A=CA1918841055CDH23c.3220+22A= (n.3220+22A=)
c.2651+22A=
c.3235+22A= (n.3235+22A=)
c.1995+22A=
c.3415+22A= (n.3415+22A=)
c.3349+22A= (n.3349+22A=)
c.3409+22A= (n.3409+22A=)
c.3355+22A= (n.3355+22A=)
c.3280+22A= (n.3280+22A=)
c.2875+22A= (n.2875+22A=)
c.2233+22A= (n.2233+22A=)
n.3658+22A=
10g.71709233A>GCA2574574959CDH23c.3220+22A>G (n.3220+22A>G)
c.2651+22A>G
c.3235+22A>G (n.3235+22A>G)
c.1995+22A>G
c.3415+22A>G (n.3415+22A>G)
c.3349+22A>G (n.3349+22A>G)
c.3409+22A>G (n.3409+22A>G)
c.3355+22A>G (n.3355+22A>G)
c.3280+22A>G (n.3280+22A>G)
c.2875+22A>G (n.2875+22A>G)
c.2233+22A>G (n.2233+22A>G)
n.3658+22A>G
10g.71709233A>TCA1918841057CDH23c.3220+22A>T (n.3220+22A>T)
c.2651+22A>T
c.3235+22A>T (n.3235+22A>T)
c.1995+22A>T
c.3415+22A>T (n.3415+22A>T)
c.3349+22A>T (n.3349+22A>T)
c.3409+22A>T (n.3409+22A>T)
c.3355+22A>T (n.3355+22A>T)
c.3280+22A>T (n.3280+22A>T)
c.2875+22A>T (n.2875+22A>T)
c.2233+22A>T (n.2233+22A>T)
n.3658+22A>T
 dbSNP
10g.71709234C>ACA2574574960CDH23c.3220+23C>A (n.3220+23C>A)
c.2651+23C>A
c.3235+23C>A (n.3235+23C>A)
c.1995+23C>A
c.3415+23C>A (n.3415+23C>A)
c.3349+23C>A (n.3349+23C>A)
c.3409+23C>A (n.3409+23C>A)
c.3355+23C>A (n.3355+23C>A)
c.3280+23C>A (n.3280+23C>A)
c.2875+23C>A (n.2875+23C>A)
c.2233+23C>A (n.2233+23C>A)
n.3658+23C>A
 gnomAD v4
10g.71709234C=CA1918841060CDH23c.3220+23C= (n.3220+23C=)
c.2651+23C=
c.3235+23C= (n.3235+23C=)
c.1995+23C=
c.3415+23C= (n.3415+23C=)
c.3349+23C= (n.3349+23C=)
c.3409+23C= (n.3409+23C=)
c.3355+23C= (n.3355+23C=)
c.3280+23C= (n.3280+23C=)
c.2875+23C= (n.2875+23C=)
c.2233+23C= (n.2233+23C=)
n.3658+23C=
10g.71709234C>TCA668080029CDH23c.3220+23C>T (n.3220+23C>T)
c.2651+23C>T
c.3235+23C>T (n.3235+23C>T)
c.1995+23C>T
c.3415+23C>T (n.3415+23C>T)
c.3349+23C>T (n.3349+23C>T)
c.3409+23C>T (n.3409+23C>T)
c.3355+23C>T (n.3355+23C>T)
c.3280+23C>T (n.3280+23C>T)
c.2875+23C>T (n.2875+23C>T)
c.2233+23C>T (n.2233+23C>T)
n.3658+23C>T
 dbSNP gnomAD v4
10g.71709237A=CA1918841063CDH23c.3220+26A= (n.3220+26A=)
c.2651+26A=
c.3235+26A= (n.3235+26A=)
c.1995+26A=
c.3415+26A= (n.3415+26A=)
c.3349+26A= (n.3349+26A=)
c.3409+26A= (n.3409+26A=)
c.3355+26A= (n.3355+26A=)
c.3280+26A= (n.3280+26A=)
c.2875+26A= (n.2875+26A=)
c.2233+26A= (n.2233+26A=)
n.3658+26A=
10g.71709237A>TCA5544518CDH23c.3220+26A>T (n.3220+26A>T)
c.2651+26A>T
c.3235+26A>T (n.3235+26A>T)
c.1995+26A>T
c.3415+26A>T (n.3415+26A>T)
c.3349+26A>T (n.3349+26A>T)
c.3409+26A>T (n.3409+26A>T)
c.3355+26A>T (n.3355+26A>T)
c.3280+26A>T (n.3280+26A>T)
c.2875+26A>T (n.2875+26A>T)
c.2233+26A>T (n.2233+26A>T)
n.3658+26A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709238C>ACA5544519CDH23c.3220+27C>A (n.3220+27C>A)
c.2651+27C>A
c.3235+27C>A (n.3235+27C>A)
c.1995+27C>A
c.3415+27C>A (n.3415+27C>A)
c.3349+27C>A (n.3349+27C>A)
c.3409+27C>A (n.3409+27C>A)
c.3355+27C>A (n.3355+27C>A)
c.3280+27C>A (n.3280+27C>A)
c.2875+27C>A (n.2875+27C>A)
c.2233+27C>A (n.2233+27C>A)
n.3658+27C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.71709238C=CA1918841067CDH23c.3220+27C= (n.3220+27C=)
c.2651+27C=
c.3235+27C= (n.3235+27C=)
c.1995+27C=
c.3415+27C= (n.3415+27C=)
c.3349+27C= (n.3349+27C=)
c.3409+27C= (n.3409+27C=)
c.3355+27C= (n.3355+27C=)
c.3280+27C= (n.3280+27C=)
c.2875+27C= (n.2875+27C=)
c.2233+27C= (n.2233+27C=)
n.3658+27C=

Number of alleles fetched