Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38723430C>ACA352155970SCN10Ac.3352G>T (p.Gly1118Ter)
c.3349G>T (p.Gly1117Ter)
c.3376G>T (p.Gly1126Ter)
c.3058G>T (p.Gly1020Ter)
c.3361G>T (p.Gly1121Ter)
c.3358G>T (p.Gly1120Ter)
c.3067G>T (p.Gly1023Ter)
3g.38723430C>GCA352155967SCN10Ac.3352G>C (p.Gly1118Arg)
c.3349G>C (p.Gly1117Arg)
c.3376G>C (p.Gly1126Arg)
c.3058G>C (p.Gly1020Arg)
c.3361G>C (p.Gly1121Arg)
c.3358G>C (p.Gly1120Arg)
c.3067G>C (p.Gly1023Arg)
3g.38723430C>TCA352155968SCN10Ac.3352G>A (p.Gly1118Arg)
c.3349G>A (p.Gly1117Arg)
c.3376G>A (p.Gly1126Arg)
c.3058G>A (p.Gly1020Arg)
c.3361G>A (p.Gly1121Arg)
c.3358G>A (p.Gly1120Arg)
c.3067G>A (p.Gly1023Arg)
 gnomAD v4
3g.38723432_38723434delCA2665104792SCN10Ac.3350_3352del (p.Glu1117del)
c.3347_3349del (p.Glu1116del)
c.3374_3376del (p.Glu1125del)
c.3056_3058del (p.Glu1019del)
c.3359_3361del (p.Glu1120del)
c.3356_3358del (p.Glu1119del)
c.3065_3067del (p.Glu1022del)
 gnomAD v4
3g.38723431T>ACA352155973SCN10Ac.3351A>T (p.Glu1117Asp)
c.3348A>T (p.Glu1116Asp)
c.3375A>T (p.Glu1125Asp)
c.3057A>T (p.Glu1019Asp)
c.3360A>T (p.Glu1120Asp)
c.3357A>T (p.Glu1119Asp)
c.3066A>T (p.Glu1022Asp)
3g.38723431T>CCA433138125SCN10Ac.3351A>G (p.Glu1117=)
c.3348A>G (p.Glu1116=)
c.3375A>G (p.Glu1125=)
c.3057A>G (p.Glu1019=)
c.3360A>G (p.Glu1120=)
c.3357A>G (p.Glu1119=)
c.3066A>G (p.Glu1022=)
3g.38723431T>GCA352155974SCN10Ac.3351A>C (p.Glu1117Asp)
c.3348A>C (p.Glu1116Asp)
c.3375A>C (p.Glu1125Asp)
c.3057A>C (p.Glu1019Asp)
c.3360A>C (p.Glu1120Asp)
c.3357A>C (p.Glu1119Asp)
c.3066A>C (p.Glu1022Asp)
3g.38723432T>ACA352155976SCN10Ac.3350A>T (p.Glu1117Val)
c.3347A>T (p.Glu1116Val)
c.3374A>T (p.Glu1125Val)
c.3056A>T (p.Glu1019Val)
c.3359A>T (p.Glu1120Val)
c.3356A>T (p.Glu1119Val)
c.3065A>T (p.Glu1022Val)
3g.38723432T>CCA352155978SCN10Ac.3350A>G (p.Glu1117Gly)
c.3347A>G (p.Glu1116Gly)
c.3374A>G (p.Glu1125Gly)
c.3056A>G (p.Glu1019Gly)
c.3359A>G (p.Glu1120Gly)
c.3356A>G (p.Glu1119Gly)
c.3065A>G (p.Glu1022Gly)
3g.38723432T>GCA352155979SCN10Ac.3350A>C (p.Glu1117Ala)
c.3347A>C (p.Glu1116Ala)
c.3374A>C (p.Glu1125Ala)
c.3056A>C (p.Glu1019Ala)
c.3359A>C (p.Glu1120Ala)
c.3356A>C (p.Glu1119Ala)
c.3065A>C (p.Glu1022Ala)
3g.38723433C>ACA352155983SCN10Ac.3349G>T (p.Glu1117Ter)
c.3346G>T (p.Glu1116Ter)
c.3373G>T (p.Glu1125Ter)
c.3055G>T (p.Glu1019Ter)
c.3358G>T (p.Glu1120Ter)
c.3355G>T (p.Glu1119Ter)
c.3064G>T (p.Glu1022Ter)
3g.38723433C>GCA352155988SCN10Ac.3349G>C (p.Glu1117Gln)
c.3346G>C (p.Glu1116Gln)
c.3373G>C (p.Glu1125Gln)
c.3055G>C (p.Glu1019Gln)
c.3358G>C (p.Glu1120Gln)
c.3355G>C (p.Glu1119Gln)
c.3064G>C (p.Glu1022Gln)
3g.38723433C>TCA352155985SCN10Ac.3349G>A (p.Glu1117Lys)
c.3346G>A (p.Glu1116Lys)
c.3373G>A (p.Glu1125Lys)
c.3055G>A (p.Glu1019Lys)
c.3358G>A (p.Glu1120Lys)
c.3355G>A (p.Glu1119Lys)
c.3064G>A (p.Glu1022Lys)
 COSMIC
3g.38723434T>ACA433138126SCN10Ac.3348A>T (p.Thr1116=)
c.3345A>T (p.Thr1115=)
c.3372A>T (p.Thr1124=)
c.3054A>T (p.Thr1018=)
c.3357A>T (p.Thr1119=)
c.3354A>T (p.Thr1118=)
c.3063A>T (p.Thr1021=)
 gnomAD v4
3g.38723434T>CCA433138127SCN10Ac.3348A>G (p.Thr1116=)
c.3345A>G (p.Thr1115=)
c.3372A>G (p.Thr1124=)
c.3054A>G (p.Thr1018=)
c.3357A>G (p.Thr1119=)
c.3354A>G (p.Thr1118=)
c.3063A>G (p.Thr1021=)
3g.38723434T>GCA433138128SCN10Ac.3348A>C (p.Thr1116=)
c.3345A>C (p.Thr1115=)
c.3372A>C (p.Thr1124=)
c.3054A>C (p.Thr1018=)
c.3357A>C (p.Thr1119=)
c.3354A>C (p.Thr1118=)
c.3063A>C (p.Thr1021=)
3g.38723435G>ACA2320273SCN10Ac.3347C>T (p.Thr1116Ile)
c.3344C>T (p.Thr1115Ile)
c.3371C>T (p.Thr1124Ile)
c.3053C>T (p.Thr1018Ile)
c.3356C>T (p.Thr1119Ile)
c.3353C>T (p.Thr1118Ile)
c.3062C>T (p.Thr1021Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38723435G>CCA352155995SCN10Ac.3347C>G (p.Thr1116Arg)
c.3344C>G (p.Thr1115Arg)
c.3371C>G (p.Thr1124Arg)
c.3053C>G (p.Thr1018Arg)
c.3356C>G (p.Thr1119Arg)
c.3353C>G (p.Thr1118Arg)
c.3062C>G (p.Thr1021Arg)
3g.38723435G=CA1358639716SCN10Ac.3347C= (p.Thr1116=)
c.3344C= (p.Thr1115=)
c.3371C= (p.Thr1124=)
c.3053C= (p.Thr1018=)
c.3356C= (p.Thr1119=)
c.3353C= (p.Thr1118=)
c.3062C= (p.Thr1021=)
3g.38723435G>TCA352155997SCN10Ac.3347C>A (p.Thr1116Lys)
c.3344C>A (p.Thr1115Lys)
c.3371C>A (p.Thr1124Lys)
c.3053C>A (p.Thr1018Lys)
c.3356C>A (p.Thr1119Lys)
c.3353C>A (p.Thr1118Lys)
c.3062C>A (p.Thr1021Lys)
3g.38723436T>ACA352155999SCN10Ac.3346A>T (p.Thr1116Ser)
c.3343A>T (p.Thr1115Ser)
c.3370A>T (p.Thr1124Ser)
c.3052A>T (p.Thr1018Ser)
c.3355A>T (p.Thr1119Ser)
c.3352A>T (p.Thr1118Ser)
c.3061A>T (p.Thr1021Ser)
3g.38723436T>CCA352156002SCN10Ac.3346A>G (p.Thr1116Ala)
c.3343A>G (p.Thr1115Ala)
c.3370A>G (p.Thr1124Ala)
c.3052A>G (p.Thr1018Ala)
c.3355A>G (p.Thr1119Ala)
c.3352A>G (p.Thr1118Ala)
c.3061A>G (p.Thr1021Ala)
3g.38723436T>GCA352156005SCN10Ac.3346A>C (p.Thr1116Pro)
c.3343A>C (p.Thr1115Pro)
c.3370A>C (p.Thr1124Pro)
c.3052A>C (p.Thr1018Pro)
c.3355A>C (p.Thr1119Pro)
c.3352A>C (p.Thr1118Pro)
c.3061A>C (p.Thr1021Pro)
3g.38723437G>ACA433138129SCN10Ac.3345C>T (p.Phe1115=)
c.3342C>T (p.Phe1114=)
c.3369C>T (p.Phe1123=)
c.3051C>T (p.Phe1017=)
c.3354C>T (p.Phe1118=)
c.3351C>T (p.Phe1117=)
c.3060C>T (p.Phe1020=)
3g.38723437G>CCA352156008SCN10Ac.3345C>G (p.Phe1115Leu)
c.3342C>G (p.Phe1114Leu)
c.3369C>G (p.Phe1123Leu)
c.3051C>G (p.Phe1017Leu)
c.3354C>G (p.Phe1118Leu)
c.3351C>G (p.Phe1117Leu)
c.3060C>G (p.Phe1020Leu)
3g.38723437G=CA1358639717SCN10Ac.3345C= (p.Phe1115=)
c.3342C= (p.Phe1114=)
c.3369C= (p.Phe1123=)
c.3051C= (p.Phe1017=)
c.3354C= (p.Phe1118=)
c.3351C= (p.Phe1117=)
c.3060C= (p.Phe1020=)
3g.38723437G>TCA352156010SCN10Ac.3345C>A (p.Phe1115Leu)
c.3342C>A (p.Phe1114Leu)
c.3369C>A (p.Phe1123Leu)
c.3051C>A (p.Phe1017Leu)
c.3354C>A (p.Phe1118Leu)
c.3351C>A (p.Phe1117Leu)
c.3060C>A (p.Phe1020Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38723438A>CCA352156013SCN10Ac.3344T>G (p.Phe1115Cys)
c.3341T>G (p.Phe1114Cys)
c.3368T>G (p.Phe1123Cys)
c.3050T>G (p.Phe1017Cys)
c.3353T>G (p.Phe1118Cys)
c.3350T>G (p.Phe1117Cys)
c.3059T>G (p.Phe1020Cys)
3g.38723438A>GCA352156017SCN10Ac.3344T>C (p.Phe1115Ser)
c.3341T>C (p.Phe1114Ser)
c.3368T>C (p.Phe1123Ser)
c.3050T>C (p.Phe1017Ser)
c.3353T>C (p.Phe1118Ser)
c.3350T>C (p.Phe1117Ser)
c.3059T>C (p.Phe1020Ser)
3g.38723438A>TCA352156019SCN10Ac.3344T>A (p.Phe1115Tyr)
c.3341T>A (p.Phe1114Tyr)
c.3368T>A (p.Phe1123Tyr)
c.3050T>A (p.Phe1017Tyr)
c.3353T>A (p.Phe1118Tyr)
c.3350T>A (p.Phe1117Tyr)
c.3059T>A (p.Phe1020Tyr)
3g.38723439A=CA1358639718SCN10Ac.3343T= (p.Phe1115=)
c.3340T= (p.Phe1114=)
c.3367T= (p.Phe1123=)
c.3049T= (p.Phe1017=)
c.3352T= (p.Phe1118=)
c.3349T= (p.Phe1117=)
c.3058T= (p.Phe1020=)
3g.38723439A>CCA352156027SCN10Ac.3343T>G (p.Phe1115Val)
c.3340T>G (p.Phe1114Val)
c.3367T>G (p.Phe1123Val)
c.3049T>G (p.Phe1017Val)
c.3352T>G (p.Phe1118Val)
c.3349T>G (p.Phe1117Val)
c.3058T>G (p.Phe1020Val)
3g.38723439A>GCA352156029SCN10Ac.3343T>C (p.Phe1115Leu)
c.3340T>C (p.Phe1114Leu)
c.3367T>C (p.Phe1123Leu)
c.3049T>C (p.Phe1017Leu)
c.3352T>C (p.Phe1118Leu)
c.3349T>C (p.Phe1117Leu)
c.3058T>C (p.Phe1020Leu)
 dbSNP
3g.38723439A>TCA352156023SCN10Ac.3343T>A (p.Phe1115Ile)
c.3340T>A (p.Phe1114Ile)
c.3367T>A (p.Phe1123Ile)
c.3049T>A (p.Phe1017Ile)
c.3352T>A (p.Phe1118Ile)
c.3349T>A (p.Phe1117Ile)
c.3058T>A (p.Phe1020Ile)
3g.38723440G>ACA433138130SCN10Ac.3342C>T (p.Cys1114=)
c.3339C>T (p.Cys1113=)
c.3366C>T (p.Cys1122=)
c.3048C>T (p.Cys1016=)
c.3351C>T (p.Cys1117=)
c.3348C>T (p.Cys1116=)
c.3057C>T (p.Cys1019=)
 gnomAD v4
3g.38723440G>CCA352156035SCN10Ac.3342C>G (p.Cys1114Trp)
c.3339C>G (p.Cys1113Trp)
c.3366C>G (p.Cys1122Trp)
c.3048C>G (p.Cys1016Trp)
c.3351C>G (p.Cys1117Trp)
c.3348C>G (p.Cys1116Trp)
c.3057C>G (p.Cys1019Trp)
3g.38723440G>TCA352156032SCN10Ac.3342C>A (p.Cys1114Ter)
c.3339C>A (p.Cys1113Ter)
c.3366C>A (p.Cys1122Ter)
c.3048C>A (p.Cys1016Ter)
c.3351C>A (p.Cys1117Ter)
c.3348C>A (p.Cys1116Ter)
c.3057C>A (p.Cys1019Ter)
3g.38723441C>ACA352156052SCN10Ac.3341G>T (p.Cys1114Phe)
c.3338G>T (p.Cys1113Phe)
c.3365G>T (p.Cys1122Phe)
c.3047G>T (p.Cys1016Phe)
c.3350G>T (p.Cys1117Phe)
c.3347G>T (p.Cys1116Phe)
c.3056G>T (p.Cys1019Phe)
3g.38723441C=CA1358639719SCN10Ac.3341G= (p.Cys1114=)
c.3338G= (p.Cys1113=)
c.3365G= (p.Cys1122=)
c.3047G= (p.Cys1016=)
c.3350G= (p.Cys1117=)
c.3347G= (p.Cys1116=)
c.3056G= (p.Cys1019=)
3g.38723441C>GCA2320274SCN10Ac.3341G>C (p.Cys1114Ser)
c.3338G>C (p.Cys1113Ser)
c.3365G>C (p.Cys1122Ser)
c.3047G>C (p.Cys1016Ser)
c.3350G>C (p.Cys1117Ser)
c.3347G>C (p.Cys1116Ser)
c.3056G>C (p.Cys1019Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38723441C>TCA352156055SCN10Ac.3341G>A (p.Cys1114Tyr)
c.3338G>A (p.Cys1113Tyr)
c.3365G>A (p.Cys1122Tyr)
c.3047G>A (p.Cys1016Tyr)
c.3350G>A (p.Cys1117Tyr)
c.3347G>A (p.Cys1116Tyr)
c.3056G>A (p.Cys1019Tyr)
3g.38723442A=CA1358639720SCN10Ac.3340T= (p.Cys1114=)
c.3337T= (p.Cys1113=)
c.3364T= (p.Cys1122=)
c.3046T= (p.Cys1016=)
c.3349T= (p.Cys1117=)
c.3346T= (p.Cys1116=)
c.3055T= (p.Cys1019=)
3g.38723442A>CCA352156058SCN10Ac.3340T>G (p.Cys1114Gly)
c.3337T>G (p.Cys1113Gly)
c.3364T>G (p.Cys1122Gly)
c.3046T>G (p.Cys1016Gly)
c.3349T>G (p.Cys1117Gly)
c.3346T>G (p.Cys1116Gly)
c.3055T>G (p.Cys1019Gly)
3g.38723442A>GCA2320275SCN10Ac.3340T>C (p.Cys1114Arg)
c.3337T>C (p.Cys1113Arg)
c.3364T>C (p.Cys1122Arg)
c.3046T>C (p.Cys1016Arg)
c.3349T>C (p.Cys1117Arg)
c.3346T>C (p.Cys1116Arg)
c.3055T>C (p.Cys1019Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.38723442A>TCA352156062SCN10Ac.3340T>A (p.Cys1114Ser)
c.3337T>A (p.Cys1113Ser)
c.3364T>A (p.Cys1122Ser)
c.3046T>A (p.Cys1016Ser)
c.3349T>A (p.Cys1117Ser)
c.3346T>A (p.Cys1116Ser)
c.3055T>A (p.Cys1019Ser)
3g.38723443G>ACA72958470SCN10Ac.3339C>T (p.Asp1113=)
c.3336C>T (p.Asp1112=)
c.3363C>T (p.Asp1121=)
c.3045C>T (p.Asp1015=)
c.3348C>T (p.Asp1116=)
c.3345C>T (p.Asp1115=)
c.3054C>T (p.Asp1018=)
 dbSNP gnomAD v2 gnomAD v4
3g.38723443G>CCA352156065SCN10Ac.3339C>G (p.Asp1113Glu)
c.3336C>G (p.Asp1112Glu)
c.3363C>G (p.Asp1121Glu)
c.3045C>G (p.Asp1015Glu)
c.3348C>G (p.Asp1116Glu)
c.3345C>G (p.Asp1115Glu)
c.3054C>G (p.Asp1018Glu)
 dbSNP
3g.38723443G=CA1358639721SCN10Ac.3339C= (p.Asp1113=)
c.3336C= (p.Asp1112=)
c.3363C= (p.Asp1121=)
c.3045C= (p.Asp1015=)
c.3348C= (p.Asp1116=)
c.3345C= (p.Asp1115=)
c.3054C= (p.Asp1018=)
3g.38723443G>TCA352156068SCN10Ac.3339C>A (p.Asp1113Glu)
c.3336C>A (p.Asp1112Glu)
c.3363C>A (p.Asp1121Glu)
c.3045C>A (p.Asp1015Glu)
c.3348C>A (p.Asp1116Glu)
c.3345C>A (p.Asp1115Glu)
c.3054C>A (p.Asp1018Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38723444T>ACA352156072SCN10Ac.3338A>T (p.Asp1113Val)
c.3335A>T (p.Asp1112Val)
c.3362A>T (p.Asp1121Val)
c.3044A>T (p.Asp1015Val)
c.3347A>T (p.Asp1116Val)
c.3344A>T (p.Asp1115Val)
c.3053A>T (p.Asp1018Val)
3g.38723444T>CCA352156075SCN10Ac.3338A>G (p.Asp1113Gly)
c.3335A>G (p.Asp1112Gly)
c.3362A>G (p.Asp1121Gly)
c.3044A>G (p.Asp1015Gly)
c.3347A>G (p.Asp1116Gly)
c.3344A>G (p.Asp1115Gly)
c.3053A>G (p.Asp1018Gly)
3g.38723444T>GCA352156077SCN10Ac.3338A>C (p.Asp1113Ala)
c.3335A>C (p.Asp1112Ala)
c.3362A>C (p.Asp1121Ala)
c.3044A>C (p.Asp1015Ala)
c.3347A>C (p.Asp1116Ala)
c.3344A>C (p.Asp1115Ala)
c.3053A>C (p.Asp1018Ala)
3g.38723445C>ACA352156081SCN10Ac.3337G>T (p.Asp1113Tyr)
c.3334G>T (p.Asp1112Tyr)
c.3361G>T (p.Asp1121Tyr)
c.3043G>T (p.Asp1015Tyr)
c.3346G>T (p.Asp1116Tyr)
c.3343G>T (p.Asp1115Tyr)
c.3052G>T (p.Asp1018Tyr)
 COSMIC
3g.38723445C>GCA352156083SCN10Ac.3337G>C (p.Asp1113His)
c.3334G>C (p.Asp1112His)
c.3361G>C (p.Asp1121His)
c.3043G>C (p.Asp1015His)
c.3346G>C (p.Asp1116His)
c.3343G>C (p.Asp1115His)
c.3052G>C (p.Asp1018His)
3g.38723445C>TCA352156080SCN10Ac.3337G>A (p.Asp1113Asn)
c.3334G>A (p.Asp1112Asn)
c.3361G>A (p.Asp1121Asn)
c.3043G>A (p.Asp1015Asn)
c.3346G>A (p.Asp1116Asn)
c.3343G>A (p.Asp1115Asn)
c.3052G>A (p.Asp1018Asn)
3g.38723446A=CA1358639722SCN10Ac.3336T= (p.Asp1112=)
c.3333T= (p.Asp1111=)
c.3360T= (p.Asp1120=)
c.3042T= (p.Asp1014=)
c.3345T= (p.Asp1115=)
c.3342T= (p.Asp1114=)
c.3051T= (p.Asp1017=)
3g.38723446A>CCA352156085SCN10Ac.3336T>G (p.Asp1112Glu)
c.3333T>G (p.Asp1111Glu)
c.3360T>G (p.Asp1120Glu)
c.3042T>G (p.Asp1014Glu)
c.3345T>G (p.Asp1115Glu)
c.3342T>G (p.Asp1114Glu)
c.3051T>G (p.Asp1017Glu)
3g.38723446A>GCA433138131SCN10Ac.3336T>C (p.Asp1112=)
c.3333T>C (p.Asp1111=)
c.3360T>C (p.Asp1120=)
c.3042T>C (p.Asp1014=)
c.3345T>C (p.Asp1115=)
c.3342T>C (p.Asp1114=)
c.3051T>C (p.Asp1017=)
 dbSNP gnomAD v2 gnomAD v4
3g.38723446A>TCA352156086SCN10Ac.3336T>A (p.Asp1112Glu)
c.3333T>A (p.Asp1111Glu)
c.3360T>A (p.Asp1120Glu)
c.3042T>A (p.Asp1014Glu)
c.3345T>A (p.Asp1115Glu)
c.3342T>A (p.Asp1114Glu)
c.3051T>A (p.Asp1017Glu)
3g.38723447T>ACA72958475SCN10Ac.3335A>T (p.Asp1112Val)
c.3332A>T (p.Asp1111Val)
c.3359A>T (p.Asp1120Val)
c.3041A>T (p.Asp1014Val)
c.3344A>T (p.Asp1115Val)
c.3341A>T (p.Asp1114Val)
c.3050A>T (p.Asp1017Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38723447T>CCA2320276SCN10Ac.3335A>G (p.Asp1112Gly)
c.3332A>G (p.Asp1111Gly)
c.3359A>G (p.Asp1120Gly)
c.3041A>G (p.Asp1014Gly)
c.3344A>G (p.Asp1115Gly)
c.3341A>G (p.Asp1114Gly)
c.3050A>G (p.Asp1017Gly)
 dbSNP ExAC
3g.38723447T>GCA352156090SCN10Ac.3335A>C (p.Asp1112Ala)
c.3332A>C (p.Asp1111Ala)
c.3359A>C (p.Asp1120Ala)
c.3041A>C (p.Asp1014Ala)
c.3344A>C (p.Asp1115Ala)
c.3341A>C (p.Asp1114Ala)
c.3050A>C (p.Asp1017Ala)
3g.38723447T=CA1358639723SCN10Ac.3335A= (p.Asp1112=)
c.3332A= (p.Asp1111=)
c.3359A= (p.Asp1120=)
c.3041A= (p.Asp1014=)
c.3344A= (p.Asp1115=)
c.3341A= (p.Asp1114=)
c.3050A= (p.Asp1017=)
3g.38723448C>ACA352156096SCN10Ac.3334G>T (p.Asp1112Tyr)
c.3331G>T (p.Asp1111Tyr)
c.3358G>T (p.Asp1120Tyr)
c.3040G>T (p.Asp1014Tyr)
c.3343G>T (p.Asp1115Tyr)
c.3340G>T (p.Asp1114Tyr)
c.3049G>T (p.Asp1017Tyr)
3g.38723448C>GCA352156092SCN10Ac.3334G>C (p.Asp1112His)
c.3331G>C (p.Asp1111His)
c.3358G>C (p.Asp1120His)
c.3040G>C (p.Asp1014His)
c.3343G>C (p.Asp1115His)
c.3340G>C (p.Asp1114His)
c.3049G>C (p.Asp1017His)
3g.38723448C>TCA352156094SCN10Ac.3334G>A (p.Asp1112Asn)
c.3331G>A (p.Asp1111Asn)
c.3358G>A (p.Asp1120Asn)
c.3040G>A (p.Asp1014Asn)
c.3343G>A (p.Asp1115Asn)
c.3340G>A (p.Asp1114Asn)
c.3049G>A (p.Asp1017Asn)
 gnomAD v4
3g.38723449T>ACA433138132SCN10Ac.3333A>T (p.Pro1111=)
c.3330A>T (p.Pro1110=)
c.3357A>T (p.Pro1119=)
c.3039A>T (p.Pro1013=)
c.3342A>T (p.Pro1114=)
c.3339A>T (p.Pro1113=)
c.3048A>T (p.Pro1016=)
3g.38723449T>CCA433138133SCN10Ac.3333A>G (p.Pro1111=)
c.3330A>G (p.Pro1110=)
c.3357A>G (p.Pro1119=)
c.3039A>G (p.Pro1013=)
c.3342A>G (p.Pro1114=)
c.3339A>G (p.Pro1113=)
c.3048A>G (p.Pro1016=)
 dbSNP gnomAD v2 gnomAD v4
3g.38723449T>GCA433138134SCN10Ac.3333A>C (p.Pro1111=)
c.3330A>C (p.Pro1110=)
c.3357A>C (p.Pro1119=)
c.3039A>C (p.Pro1013=)
c.3342A>C (p.Pro1114=)
c.3339A>C (p.Pro1113=)
c.3048A>C (p.Pro1016=)
3g.38723449T=CA1358639724SCN10Ac.3333A= (p.Pro1111=)
c.3330A= (p.Pro1110=)
c.3357A= (p.Pro1119=)
c.3039A= (p.Pro1013=)
c.3342A= (p.Pro1114=)
c.3339A= (p.Pro1113=)
c.3048A= (p.Pro1016=)
3g.38723450G>ACA352156099SCN10Ac.3332C>T (p.Pro1111Leu)
c.3329C>T (p.Pro1110Leu)
c.3356C>T (p.Pro1119Leu)
c.3038C>T (p.Pro1013Leu)
c.3341C>T (p.Pro1114Leu)
c.3338C>T (p.Pro1113Leu)
c.3047C>T (p.Pro1016Leu)
 gnomAD v4
3g.38723450G>CCA2320277SCN10Ac.3332C>G (p.Pro1111Arg)
c.3329C>G (p.Pro1110Arg)
c.3356C>G (p.Pro1119Arg)
c.3038C>G (p.Pro1013Arg)
c.3341C>G (p.Pro1114Arg)
c.3338C>G (p.Pro1113Arg)
c.3047C>G (p.Pro1016Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38723450G=CA1358639725SCN10Ac.3332C= (p.Pro1111=)
c.3329C= (p.Pro1110=)
c.3356C= (p.Pro1119=)
c.3038C= (p.Pro1013=)
c.3341C= (p.Pro1114=)
c.3338C= (p.Pro1113=)
c.3047C= (p.Pro1016=)
3g.38723450G>TCA352156102SCN10Ac.3332C>A (p.Pro1111Gln)
c.3329C>A (p.Pro1110Gln)
c.3356C>A (p.Pro1119Gln)
c.3038C>A (p.Pro1013Gln)
c.3341C>A (p.Pro1114Gln)
c.3338C>A (p.Pro1113Gln)
c.3047C>A (p.Pro1016Gln)
3g.38723451G>ACA352156104SCN10Ac.3331C>T (p.Pro1111Ser)
c.3328C>T (p.Pro1110Ser)
c.3355C>T (p.Pro1119Ser)
c.3037C>T (p.Pro1013Ser)
c.3340C>T (p.Pro1114Ser)
c.3337C>T (p.Pro1113Ser)
c.3046C>T (p.Pro1016Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38723451G>CCA352156105SCN10Ac.3331C>G (p.Pro1111Ala)
c.3328C>G (p.Pro1110Ala)
c.3355C>G (p.Pro1119Ala)
c.3037C>G (p.Pro1013Ala)
c.3340C>G (p.Pro1114Ala)
c.3337C>G (p.Pro1113Ala)
c.3046C>G (p.Pro1016Ala)
3g.38723451G=CA1358639726SCN10Ac.3331C= (p.Pro1111=)
c.3328C= (p.Pro1110=)
c.3355C= (p.Pro1119=)
c.3037C= (p.Pro1013=)
c.3340C= (p.Pro1114=)
c.3337C= (p.Pro1113=)
c.3046C= (p.Pro1016=)
3g.38723451G>TCA352156107SCN10Ac.3331C>A (p.Pro1111Thr)
c.3328C>A (p.Pro1110Thr)
c.3355C>A (p.Pro1119Thr)
c.3037C>A (p.Pro1013Thr)
c.3340C>A (p.Pro1114Thr)
c.3337C>A (p.Pro1113Thr)
c.3046C>A (p.Pro1016Thr)
3g.38723452T>ACA352156109SCN10Ac.3330A>T (p.Glu1110Asp)
c.3327A>T (p.Glu1109Asp)
c.3354A>T (p.Glu1118Asp)
c.3036A>T (p.Glu1012Asp)
c.3339A>T (p.Glu1113Asp)
c.3336A>T (p.Glu1112Asp)
c.3045A>T (p.Glu1015Asp)
3g.38723452T>CCA433138135SCN10Ac.3330A>G (p.Glu1110=)
c.3327A>G (p.Glu1109=)
c.3354A>G (p.Glu1118=)
c.3036A>G (p.Glu1012=)
c.3339A>G (p.Glu1113=)
c.3336A>G (p.Glu1112=)
c.3045A>G (p.Glu1015=)
3g.38723452T>GCA352156111SCN10Ac.3330A>C (p.Glu1110Asp)
c.3327A>C (p.Glu1109Asp)
c.3354A>C (p.Glu1118Asp)
c.3036A>C (p.Glu1012Asp)
c.3339A>C (p.Glu1113Asp)
c.3336A>C (p.Glu1112Asp)
c.3045A>C (p.Glu1015Asp)
3g.38723453T>ACA352156112SCN10Ac.3329A>T (p.Glu1110Val)
c.3326A>T (p.Glu1109Val)
c.3353A>T (p.Glu1118Val)
c.3035A>T (p.Glu1012Val)
c.3338A>T (p.Glu1113Val)
c.3335A>T (p.Glu1112Val)
c.3044A>T (p.Glu1015Val)
3g.38723453T>CCA352156114SCN10Ac.3329A>G (p.Glu1110Gly)
c.3326A>G (p.Glu1109Gly)
c.3353A>G (p.Glu1118Gly)
c.3035A>G (p.Glu1012Gly)
c.3338A>G (p.Glu1113Gly)
c.3335A>G (p.Glu1112Gly)
c.3044A>G (p.Glu1015Gly)
3g.38723453T>GCA352156113SCN10Ac.3329A>C (p.Glu1110Ala)
c.3326A>C (p.Glu1109Ala)
c.3353A>C (p.Glu1118Ala)
c.3035A>C (p.Glu1012Ala)
c.3338A>C (p.Glu1113Ala)
c.3335A>C (p.Glu1112Ala)
c.3044A>C (p.Glu1015Ala)
3g.38723454C>ACA352156116SCN10Ac.3328G>T (p.Glu1110Ter)
c.3325G>T (p.Glu1109Ter)
c.3352G>T (p.Glu1118Ter)
c.3034G>T (p.Glu1012Ter)
c.3337G>T (p.Glu1113Ter)
c.3334G>T (p.Glu1112Ter)
c.3043G>T (p.Glu1015Ter)
3g.38723454C=CA1358639727SCN10Ac.3328G= (p.Glu1110=)
c.3325G= (p.Glu1109=)
c.3352G= (p.Glu1118=)
c.3034G= (p.Glu1012=)
c.3337G= (p.Glu1113=)
c.3334G= (p.Glu1112=)
c.3043G= (p.Glu1015=)
3g.38723454C>GCA72958487SCN10Ac.3328G>C (p.Glu1110Gln)
c.3325G>C (p.Glu1109Gln)
c.3352G>C (p.Glu1118Gln)
c.3034G>C (p.Glu1012Gln)
c.3337G>C (p.Glu1113Gln)
c.3334G>C (p.Glu1112Gln)
c.3043G>C (p.Glu1015Gln)
 ClinVar dbSNP gnomAD v4
3g.38723454C>TCA72958501SCN10Ac.3328G>A (p.Glu1110Lys)
c.3325G>A (p.Glu1109Lys)
c.3352G>A (p.Glu1118Lys)
c.3034G>A (p.Glu1012Lys)
c.3337G>A (p.Glu1113Lys)
c.3334G>A (p.Glu1112Lys)
c.3043G>A (p.Glu1015Lys)
 dbSNP
3g.38723455T>ACA352156121SCN10Ac.3327A>T (p.Glu1109Asp)
c.3324A>T (p.Glu1108Asp)
c.3351A>T (p.Glu1117Asp)
c.3033A>T (p.Glu1011Asp)
c.3336A>T (p.Glu1112Asp)
c.3333A>T (p.Glu1111Asp)
c.3042A>T (p.Glu1014Asp)
3g.38723455T>CCA433138136SCN10Ac.3327A>G (p.Glu1109=)
c.3324A>G (p.Glu1108=)
c.3351A>G (p.Glu1117=)
c.3033A>G (p.Glu1011=)
c.3336A>G (p.Glu1112=)
c.3333A>G (p.Glu1111=)
c.3042A>G (p.Glu1014=)
3g.38723455T>GCA352156122SCN10Ac.3327A>C (p.Glu1109Asp)
c.3324A>C (p.Glu1108Asp)
c.3351A>C (p.Glu1117Asp)
c.3033A>C (p.Glu1011Asp)
c.3336A>C (p.Glu1112Asp)
c.3333A>C (p.Glu1111Asp)
c.3042A>C (p.Glu1014Asp)
3g.38723456T>ACA352156124SCN10Ac.3326A>T (p.Glu1109Val)
c.3323A>T (p.Glu1108Val)
c.3350A>T (p.Glu1117Val)
c.3032A>T (p.Glu1011Val)
c.3335A>T (p.Glu1112Val)
c.3332A>T (p.Glu1111Val)
c.3041A>T (p.Glu1014Val)
3g.38723456T>CCA352156125SCN10Ac.3326A>G (p.Glu1109Gly)
c.3323A>G (p.Glu1108Gly)
c.3350A>G (p.Glu1117Gly)
c.3032A>G (p.Glu1011Gly)
c.3335A>G (p.Glu1112Gly)
c.3332A>G (p.Glu1111Gly)
c.3041A>G (p.Glu1014Gly)
3g.38723456T>GCA352156126SCN10Ac.3326A>C (p.Glu1109Ala)
c.3323A>C (p.Glu1108Ala)
c.3350A>C (p.Glu1117Ala)
c.3032A>C (p.Glu1011Ala)
c.3335A>C (p.Glu1112Ala)
c.3332A>C (p.Glu1111Ala)
c.3041A>C (p.Glu1014Ala)
3g.38723457C>ACA352156129SCN10Ac.3325G>T (p.Glu1109Ter)
c.3322G>T (p.Glu1108Ter)
c.3349G>T (p.Glu1117Ter)
c.3031G>T (p.Glu1011Ter)
c.3334G>T (p.Glu1112Ter)
c.3331G>T (p.Glu1111Ter)
c.3040G>T (p.Glu1014Ter)
3g.38723457C=CA1358639728SCN10Ac.3325G= (p.Glu1109=)
c.3322G= (p.Glu1108=)
c.3349G= (p.Glu1117=)
c.3031G= (p.Glu1011=)
c.3334G= (p.Glu1112=)
c.3331G= (p.Glu1111=)
c.3040G= (p.Glu1014=)
3g.38723457C>GCA352156130SCN10Ac.3325G>C (p.Glu1109Gln)
c.3322G>C (p.Glu1108Gln)
c.3349G>C (p.Glu1117Gln)
c.3031G>C (p.Glu1011Gln)
c.3334G>C (p.Glu1112Gln)
c.3331G>C (p.Glu1111Gln)
c.3040G>C (p.Glu1014Gln)
3g.38723457C>TCA352156131SCN10Ac.3325G>A (p.Glu1109Lys)
c.3322G>A (p.Glu1108Lys)
c.3349G>A (p.Glu1117Lys)
c.3031G>A (p.Glu1011Lys)
c.3334G>A (p.Glu1112Lys)
c.3331G>A (p.Glu1111Lys)
c.3040G>A (p.Glu1014Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38723458C>ACA433138142SCN10Ac.3324G>T (p.Leu1108=)
c.3321G>T (p.Leu1107=)
c.3348G>T (p.Leu1116=)
c.3030G>T (p.Leu1010=)
c.3333G>T (p.Leu1111=)
c.3330G>T (p.Leu1110=)
c.3039G>T (p.Leu1013=)
3g.38723458C>GCA433138141SCN10Ac.3324G>C (p.Leu1108=)
c.3321G>C (p.Leu1107=)
c.3348G>C (p.Leu1116=)
c.3030G>C (p.Leu1010=)
c.3333G>C (p.Leu1111=)
c.3330G>C (p.Leu1110=)
c.3039G>C (p.Leu1013=)
3g.38723458C>TCA433138139SCN10Ac.3324G>A (p.Leu1108=)
c.3321G>A (p.Leu1107=)
c.3348G>A (p.Leu1116=)
c.3030G>A (p.Leu1010=)
c.3333G>A (p.Leu1111=)
c.3330G>A (p.Leu1110=)
c.3039G>A (p.Leu1013=)
3g.38723459A>CCA352156137SCN10Ac.3323T>G (p.Leu1108Arg)
c.3320T>G (p.Leu1107Arg)
c.3347T>G (p.Leu1116Arg)
c.3029T>G (p.Leu1010Arg)
c.3332T>G (p.Leu1111Arg)
c.3329T>G (p.Leu1110Arg)
c.3038T>G (p.Leu1013Arg)
3g.38723459A>GCA352156135SCN10Ac.3323T>C (p.Leu1108Pro)
c.3320T>C (p.Leu1107Pro)
c.3347T>C (p.Leu1116Pro)
c.3029T>C (p.Leu1010Pro)
c.3332T>C (p.Leu1111Pro)
c.3329T>C (p.Leu1110Pro)
c.3038T>C (p.Leu1013Pro)
3g.38723459A>TCA352156133SCN10Ac.3323T>A (p.Leu1108Gln)
c.3320T>A (p.Leu1107Gln)
c.3347T>A (p.Leu1116Gln)
c.3029T>A (p.Leu1010Gln)
c.3332T>A (p.Leu1111Gln)
c.3329T>A (p.Leu1110Gln)
c.3038T>A (p.Leu1013Gln)
 gnomAD v4
3g.38723460G>ACA433138143SCN10Ac.3322C>T (p.Leu1108=)
c.3319C>T (p.Leu1107=)
c.3346C>T (p.Leu1116=)
c.3028C>T (p.Leu1010=)
c.3331C>T (p.Leu1111=)
c.3328C>T (p.Leu1110=)
c.3037C>T (p.Leu1013=)
3g.38723460G>CCA352156139SCN10Ac.3322C>G (p.Leu1108Val)
c.3319C>G (p.Leu1107Val)
c.3346C>G (p.Leu1116Val)
c.3028C>G (p.Leu1010Val)
c.3331C>G (p.Leu1111Val)
c.3328C>G (p.Leu1110Val)
c.3037C>G (p.Leu1013Val)
3g.38723460G>TCA352156141SCN10Ac.3322C>A (p.Leu1108Met)
c.3319C>A (p.Leu1107Met)
c.3346C>A (p.Leu1116Met)
c.3028C>A (p.Leu1010Met)
c.3331C>A (p.Leu1111Met)
c.3328C>A (p.Leu1110Met)
c.3037C>A (p.Leu1013Met)
 COSMIC
3g.38723461G>ACA433138145SCN10Ac.3321C>T (p.Asp1107=)
c.3318C>T (p.Asp1106=)
c.3345C>T (p.Asp1115=)
c.3027C>T (p.Asp1009=)
c.3330C>T (p.Asp1110=)
c.3327C>T (p.Asp1109=)
c.3036C>T (p.Asp1012=)
 gnomAD v4
3g.38723461G>CCA352156143SCN10Ac.3321C>G (p.Asp1107Glu)
c.3318C>G (p.Asp1106Glu)
c.3345C>G (p.Asp1115Glu)
c.3027C>G (p.Asp1009Glu)
c.3330C>G (p.Asp1110Glu)
c.3327C>G (p.Asp1109Glu)
c.3036C>G (p.Asp1012Glu)
3g.38723461G>TCA352156145SCN10Ac.3321C>A (p.Asp1107Glu)
c.3318C>A (p.Asp1106Glu)
c.3345C>A (p.Asp1115Glu)
c.3027C>A (p.Asp1009Glu)
c.3330C>A (p.Asp1110Glu)
c.3327C>A (p.Asp1109Glu)
c.3036C>A (p.Asp1012Glu)
3g.38723462T>ACA352156147SCN10Ac.3320A>T (p.Asp1107Val)
c.3317A>T (p.Asp1106Val)
c.3344A>T (p.Asp1115Val)
c.3026A>T (p.Asp1009Val)
c.3329A>T (p.Asp1110Val)
c.3326A>T (p.Asp1109Val)
c.3035A>T (p.Asp1012Val)
3g.38723462T>CCA352156149SCN10Ac.3320A>G (p.Asp1107Gly)
c.3317A>G (p.Asp1106Gly)
c.3344A>G (p.Asp1115Gly)
c.3026A>G (p.Asp1009Gly)
c.3329A>G (p.Asp1110Gly)
c.3326A>G (p.Asp1109Gly)
c.3035A>G (p.Asp1012Gly)
3g.38723462T>GCA352156151SCN10Ac.3320A>C (p.Asp1107Ala)
c.3317A>C (p.Asp1106Ala)
c.3344A>C (p.Asp1115Ala)
c.3026A>C (p.Asp1009Ala)
c.3329A>C (p.Asp1110Ala)
c.3326A>C (p.Asp1109Ala)
c.3035A>C (p.Asp1012Ala)
3g.38723463C>ACA352156152SCN10Ac.3319G>T (p.Asp1107Tyr)
c.3316G>T (p.Asp1106Tyr)
c.3343G>T (p.Asp1115Tyr)
c.3025G>T (p.Asp1009Tyr)
c.3328G>T (p.Asp1110Tyr)
c.3325G>T (p.Asp1109Tyr)
c.3034G>T (p.Asp1012Tyr)
3g.38723463C>GCA352156154SCN10Ac.3319G>C (p.Asp1107His)
c.3316G>C (p.Asp1106His)
c.3343G>C (p.Asp1115His)
c.3025G>C (p.Asp1009His)
c.3328G>C (p.Asp1110His)
c.3325G>C (p.Asp1109His)
c.3034G>C (p.Asp1012His)
 COSMIC
3g.38723463C>TCA352156156SCN10Ac.3319G>A (p.Asp1107Asn)
c.3316G>A (p.Asp1106Asn)
c.3343G>A (p.Asp1115Asn)
c.3025G>A (p.Asp1009Asn)
c.3328G>A (p.Asp1110Asn)
c.3325G>A (p.Asp1109Asn)
c.3034G>A (p.Asp1012Asn)
3g.38723464A>CCA352156158SCN10Ac.3318T>G (p.Asp1106Glu)
c.3315T>G (p.Asp1105Glu)
c.3342T>G (p.Asp1114Glu)
c.3024T>G (p.Asp1008Glu)
c.3327T>G (p.Asp1109Glu)
c.3324T>G (p.Asp1108Glu)
c.3033T>G (p.Asp1011Glu)
3g.38723464A>GCA433138147SCN10Ac.3318T>C (p.Asp1106=)
c.3315T>C (p.Asp1105=)
c.3342T>C (p.Asp1114=)
c.3024T>C (p.Asp1008=)
c.3327T>C (p.Asp1109=)
c.3324T>C (p.Asp1108=)
c.3033T>C (p.Asp1011=)
 ClinVar
3g.38723464A>TCA352156159SCN10Ac.3318T>A (p.Asp1106Glu)
c.3315T>A (p.Asp1105Glu)
c.3342T>A (p.Asp1114Glu)
c.3024T>A (p.Asp1008Glu)
c.3327T>A (p.Asp1109Glu)
c.3324T>A (p.Asp1108Glu)
c.3033T>A (p.Asp1011Glu)
3g.38723465T>ACA352156161SCN10Ac.3317A>T (p.Asp1106Val)
c.3314A>T (p.Asp1105Val)
c.3341A>T (p.Asp1114Val)
c.3023A>T (p.Asp1008Val)
c.3326A>T (p.Asp1109Val)
c.3323A>T (p.Asp1108Val)
c.3032A>T (p.Asp1011Val)
3g.38723465T>CCA352156164SCN10Ac.3317A>G (p.Asp1106Gly)
c.3314A>G (p.Asp1105Gly)
c.3341A>G (p.Asp1114Gly)
c.3023A>G (p.Asp1008Gly)
c.3326A>G (p.Asp1109Gly)
c.3323A>G (p.Asp1108Gly)
c.3032A>G (p.Asp1011Gly)
3g.38723465T>GCA352156162SCN10Ac.3317A>C (p.Asp1106Ala)
c.3314A>C (p.Asp1105Ala)
c.3341A>C (p.Asp1114Ala)
c.3023A>C (p.Asp1008Ala)
c.3326A>C (p.Asp1109Ala)
c.3323A>C (p.Asp1108Ala)
c.3032A>C (p.Asp1011Ala)
3g.38723466C>ACA352156167SCN10Ac.3316G>T (p.Asp1106Tyr)
c.3313G>T (p.Asp1105Tyr)
c.3340G>T (p.Asp1114Tyr)
c.3022G>T (p.Asp1008Tyr)
c.3325G>T (p.Asp1109Tyr)
c.3322G>T (p.Asp1108Tyr)
c.3031G>T (p.Asp1011Tyr)
3g.38723466C>GCA352156170SCN10Ac.3316G>C (p.Asp1106His)
c.3313G>C (p.Asp1105His)
c.3340G>C (p.Asp1114His)
c.3022G>C (p.Asp1008His)
c.3325G>C (p.Asp1109His)
c.3322G>C (p.Asp1108His)
c.3031G>C (p.Asp1011His)
3g.38723466C>TCA352156168SCN10Ac.3316G>A (p.Asp1106Asn)
c.3313G>A (p.Asp1105Asn)
c.3340G>A (p.Asp1114Asn)
c.3022G>A (p.Asp1008Asn)
c.3325G>A (p.Asp1109Asn)
c.3322G>A (p.Asp1108Asn)
c.3031G>A (p.Asp1011Asn)
3g.38723467T>ACA433138152SCN10Ac.3315A>T (p.Ala1105=)
c.3312A>T (p.Ala1104=)
c.3339A>T (p.Ala1113=)
c.3021A>T (p.Ala1007=)
c.3324A>T (p.Ala1108=)
c.3321A>T (p.Ala1107=)
c.3030A>T (p.Ala1010=)
3g.38723467T>CCA433138151SCN10Ac.3315A>G (p.Ala1105=)
c.3312A>G (p.Ala1104=)
c.3339A>G (p.Ala1113=)
c.3021A>G (p.Ala1007=)
c.3324A>G (p.Ala1108=)
c.3321A>G (p.Ala1107=)
c.3030A>G (p.Ala1010=)
 COSMIC
3g.38723467T>GCA72958507SCN10Ac.3315A>C (p.Ala1105=)
c.3312A>C (p.Ala1104=)
c.3339A>C (p.Ala1113=)
c.3021A>C (p.Ala1007=)
c.3324A>C (p.Ala1108=)
c.3321A>C (p.Ala1107=)
c.3030A>C (p.Ala1010=)
 dbSNP
3g.38723467T=CA1358639729SCN10Ac.3315A= (p.Ala1105=)
c.3312A= (p.Ala1104=)
c.3339A= (p.Ala1113=)
c.3021A= (p.Ala1007=)
c.3324A= (p.Ala1108=)
c.3321A= (p.Ala1107=)
c.3030A= (p.Ala1010=)
3g.38723468G>ACA72958513SCN10Ac.3314C>T (p.Ala1105Val)
c.3311C>T (p.Ala1104Val)
c.3338C>T (p.Ala1113Val)
c.3020C>T (p.Ala1007Val)
c.3323C>T (p.Ala1108Val)
c.3320C>T (p.Ala1107Val)
c.3029C>T (p.Ala1010Val)
 dbSNP
3g.38723468G>CCA352156173SCN10Ac.3314C>G (p.Ala1105Gly)
c.3311C>G (p.Ala1104Gly)
c.3338C>G (p.Ala1113Gly)
c.3020C>G (p.Ala1007Gly)
c.3323C>G (p.Ala1108Gly)
c.3320C>G (p.Ala1107Gly)
c.3029C>G (p.Ala1010Gly)
3g.38723468G=CA1358639730SCN10Ac.3314C= (p.Ala1105=)
c.3311C= (p.Ala1104=)
c.3338C= (p.Ala1113=)
c.3020C= (p.Ala1007=)
c.3323C= (p.Ala1108=)
c.3320C= (p.Ala1107=)
c.3029C= (p.Ala1010=)
3g.38723468G>TCA352156175SCN10Ac.3314C>A (p.Ala1105Glu)
c.3311C>A (p.Ala1104Glu)
c.3338C>A (p.Ala1113Glu)
c.3020C>A (p.Ala1007Glu)
c.3323C>A (p.Ala1108Glu)
c.3320C>A (p.Ala1107Glu)
c.3029C>A (p.Ala1010Glu)
3g.38723469C>ACA352156178SCN10Ac.3313G>T (p.Ala1105Ser)
c.3310G>T (p.Ala1104Ser)
c.3337G>T (p.Ala1113Ser)
c.3019G>T (p.Ala1007Ser)
c.3322G>T (p.Ala1108Ser)
c.3319G>T (p.Ala1107Ser)
c.3028G>T (p.Ala1010Ser)
3g.38723469C>GCA352156181SCN10Ac.3313G>C (p.Ala1105Pro)
c.3310G>C (p.Ala1104Pro)
c.3337G>C (p.Ala1113Pro)
c.3019G>C (p.Ala1007Pro)
c.3322G>C (p.Ala1108Pro)
c.3319G>C (p.Ala1107Pro)
c.3028G>C (p.Ala1010Pro)
3g.38723469C>TCA352156183SCN10Ac.3313G>A (p.Ala1105Thr)
c.3310G>A (p.Ala1104Thr)
c.3337G>A (p.Ala1113Thr)
c.3019G>A (p.Ala1007Thr)
c.3322G>A (p.Ala1108Thr)
c.3319G>A (p.Ala1107Thr)
c.3028G>A (p.Ala1010Thr)
 COSMIC
3g.38723470C>ACA433138154SCN10Ac.3312G>T (p.Leu1104=)
c.3309G>T (p.Leu1103=)
c.3336G>T (p.Leu1112=)
c.3018G>T (p.Leu1006=)
c.3321G>T (p.Leu1107=)
c.3318G>T (p.Leu1106=)
c.3027G>T (p.Leu1009=)
3g.38723470C>GCA433138155SCN10Ac.3312G>C (p.Leu1104=)
c.3309G>C (p.Leu1103=)
c.3336G>C (p.Leu1112=)
c.3018G>C (p.Leu1006=)
c.3321G>C (p.Leu1107=)
c.3318G>C (p.Leu1106=)
c.3027G>C (p.Leu1009=)
3g.38723470C>TCA433138156SCN10Ac.3312G>A (p.Leu1104=)
c.3309G>A (p.Leu1103=)
c.3336G>A (p.Leu1112=)
c.3018G>A (p.Leu1006=)
c.3321G>A (p.Leu1107=)
c.3318G>A (p.Leu1106=)
c.3027G>A (p.Leu1009=)
3g.38723471A=CA1358639731SCN10Ac.3311T= (p.Leu1104=)
c.3308T= (p.Leu1103=)
c.3335T= (p.Leu1112=)
c.3017T= (p.Leu1006=)
c.3320T= (p.Leu1107=)
c.3317T= (p.Leu1106=)
c.3026T= (p.Leu1009=)
3g.38723471A>CCA352156185SCN10Ac.3311T>G (p.Leu1104Arg)
c.3308T>G (p.Leu1103Arg)
c.3335T>G (p.Leu1112Arg)
c.3017T>G (p.Leu1006Arg)
c.3320T>G (p.Leu1107Arg)
c.3317T>G (p.Leu1106Arg)
c.3026T>G (p.Leu1009Arg)
3g.38723471A>GCA72958515SCN10Ac.3311T>C (p.Leu1104Pro)
c.3308T>C (p.Leu1103Pro)
c.3335T>C (p.Leu1112Pro)
c.3017T>C (p.Leu1006Pro)
c.3320T>C (p.Leu1107Pro)
c.3317T>C (p.Leu1106Pro)
c.3026T>C (p.Leu1009Pro)
 dbSNP
3g.38723471A>TCA352156188SCN10Ac.3311T>A (p.Leu1104Gln)
c.3308T>A (p.Leu1103Gln)
c.3335T>A (p.Leu1112Gln)
c.3017T>A (p.Leu1006Gln)
c.3320T>A (p.Leu1107Gln)
c.3317T>A (p.Leu1106Gln)
c.3026T>A (p.Leu1009Gln)
3g.38723472G>ACA433138160SCN10Ac.3310C>T (p.Leu1104=)
c.3307C>T (p.Leu1103=)
c.3334C>T (p.Leu1112=)
c.3016C>T (p.Leu1006=)
c.3319C>T (p.Leu1107=)
c.3316C>T (p.Leu1106=)
c.3025C>T (p.Leu1009=)
 gnomAD v4
3g.38723472G>CCA352156189SCN10Ac.3310C>G (p.Leu1104Val)
c.3307C>G (p.Leu1103Val)
c.3334C>G (p.Leu1112Val)
c.3016C>G (p.Leu1006Val)
c.3319C>G (p.Leu1107Val)
c.3316C>G (p.Leu1106Val)
c.3025C>G (p.Leu1009Val)
3g.38723472G>TCA352156190SCN10Ac.3310C>A (p.Leu1104Met)
c.3307C>A (p.Leu1103Met)
c.3334C>A (p.Leu1112Met)
c.3016C>A (p.Leu1006Met)
c.3319C>A (p.Leu1107Met)
c.3316C>A (p.Leu1106Met)
c.3025C>A (p.Leu1009Met)
3g.38723473C>ACA2320278SCN10Ac.3309G>T (p.Glu1103Asp)
c.3306G>T (p.Glu1102Asp)
c.3333G>T (p.Glu1111Asp)
c.3015G>T (p.Glu1005Asp)
c.3318G>T (p.Glu1106Asp)
c.3315G>T (p.Glu1105Asp)
c.3024G>T (p.Glu1008Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38723473C=CA1358639732SCN10Ac.3309G= (p.Glu1103=)
c.3306G= (p.Glu1102=)
c.3333G= (p.Glu1111=)
c.3015G= (p.Glu1005=)
c.3318G= (p.Glu1106=)
c.3315G= (p.Glu1105=)
c.3024G= (p.Glu1008=)
3g.38723473C>GCA352156194SCN10Ac.3309G>C (p.Glu1103Asp)
c.3306G>C (p.Glu1102Asp)
c.3333G>C (p.Glu1111Asp)
c.3015G>C (p.Glu1005Asp)
c.3318G>C (p.Glu1106Asp)
c.3315G>C (p.Glu1105Asp)
c.3024G>C (p.Glu1008Asp)
3g.38723473C>TCA433138161SCN10Ac.3309G>A (p.Glu1103=)
c.3306G>A (p.Glu1102=)
c.3333G>A (p.Glu1111=)
c.3015G>A (p.Glu1005=)
c.3318G>A (p.Glu1106=)
c.3315G>A (p.Glu1105=)
c.3024G>A (p.Glu1008=)
3g.38723474T>ACA352156195SCN10Ac.3308A>T (p.Glu1103Val)
c.3305A>T (p.Glu1102Val)
c.3332A>T (p.Glu1111Val)
c.3014A>T (p.Glu1005Val)
c.3317A>T (p.Glu1106Val)
c.3314A>T (p.Glu1105Val)
c.3023A>T (p.Glu1008Val)
3g.38723474T>CCA352156198SCN10Ac.3308A>G (p.Glu1103Gly)
c.3305A>G (p.Glu1102Gly)
c.3332A>G (p.Glu1111Gly)
c.3014A>G (p.Glu1005Gly)
c.3317A>G (p.Glu1106Gly)
c.3314A>G (p.Glu1105Gly)
c.3023A>G (p.Glu1008Gly)
3g.38723474T>GCA352156196SCN10Ac.3308A>C (p.Glu1103Ala)
c.3305A>C (p.Glu1102Ala)
c.3332A>C (p.Glu1111Ala)
c.3014A>C (p.Glu1005Ala)
c.3317A>C (p.Glu1106Ala)
c.3314A>C (p.Glu1105Ala)
c.3023A>C (p.Glu1008Ala)
3g.38723475C>ACA352156200SCN10Ac.3307G>T (p.Glu1103Ter)
c.3304G>T (p.Glu1102Ter)
c.3331G>T (p.Glu1111Ter)
c.3013G>T (p.Glu1005Ter)
c.3316G>T (p.Glu1106Ter)
c.3313G>T (p.Glu1105Ter)
c.3022G>T (p.Glu1008Ter)
3g.38723475C=CA1358639733SCN10Ac.3307G= (p.Glu1103=)
c.3304G= (p.Glu1102=)
c.3331G= (p.Glu1111=)
c.3013G= (p.Glu1005=)
c.3316G= (p.Glu1106=)
c.3313G= (p.Glu1105=)
c.3022G= (p.Glu1008=)
3g.38723475C>GCA352156201SCN10Ac.3307G>C (p.Glu1103Gln)
c.3304G>C (p.Glu1102Gln)
c.3331G>C (p.Glu1111Gln)
c.3013G>C (p.Glu1005Gln)
c.3316G>C (p.Glu1106Gln)
c.3313G>C (p.Glu1105Gln)
c.3022G>C (p.Glu1008Gln)
3g.38723475C>TCA352156203SCN10Ac.3307G>A (p.Glu1103Lys)
c.3304G>A (p.Glu1102Lys)
c.3331G>A (p.Glu1111Lys)
c.3013G>A (p.Glu1005Lys)
c.3316G>A (p.Glu1106Lys)
c.3313G>A (p.Glu1105Lys)
c.3022G>A (p.Glu1008Lys)
 dbSNP
3g.38723476A>CCA433138163SCN10Ac.3306T>G (p.Pro1102=)
c.3303T>G (p.Pro1101=)
c.3330T>G (p.Pro1110=)
c.3012T>G (p.Pro1004=)
c.3315T>G (p.Pro1105=)
c.3312T>G (p.Pro1104=)
c.3021T>G (p.Pro1007=)
3g.38723476A>GCA433138164SCN10Ac.3306T>C (p.Pro1102=)
c.3303T>C (p.Pro1101=)
c.3330T>C (p.Pro1110=)
c.3012T>C (p.Pro1004=)
c.3315T>C (p.Pro1105=)
c.3312T>C (p.Pro1104=)
c.3021T>C (p.Pro1007=)
 gnomAD v4
3g.38723476A>TCA433138165SCN10Ac.3306T>A (p.Pro1102=)
c.3303T>A (p.Pro1101=)
c.3330T>A (p.Pro1110=)
c.3012T>A (p.Pro1004=)
c.3315T>A (p.Pro1105=)
c.3312T>A (p.Pro1104=)
c.3021T>A (p.Pro1007=)
 gnomAD v4
3g.38723477G>ACA352156206SCN10Ac.3305C>T (p.Pro1102Leu)
c.3302C>T (p.Pro1101Leu)
c.3329C>T (p.Pro1110Leu)
c.3011C>T (p.Pro1004Leu)
c.3314C>T (p.Pro1105Leu)
c.3311C>T (p.Pro1104Leu)
c.3020C>T (p.Pro1007Leu)
3g.38723477G>CCA352156207SCN10Ac.3305C>G (p.Pro1102Arg)
c.3302C>G (p.Pro1101Arg)
c.3329C>G (p.Pro1110Arg)
c.3011C>G (p.Pro1004Arg)
c.3314C>G (p.Pro1105Arg)
c.3311C>G (p.Pro1104Arg)
c.3020C>G (p.Pro1007Arg)
3g.38723477G>TCA352156208SCN10Ac.3305C>A (p.Pro1102His)
c.3302C>A (p.Pro1101His)
c.3329C>A (p.Pro1110His)
c.3011C>A (p.Pro1004His)
c.3314C>A (p.Pro1105His)
c.3311C>A (p.Pro1104His)
c.3020C>A (p.Pro1007His)
3g.38723478G>ACA16042470SCN10Ac.3304C>T (p.Pro1102Ser)
c.3301C>T (p.Pro1101Ser)
c.3328C>T (p.Pro1110Ser)
c.3010C>T (p.Pro1004Ser)
c.3313C>T (p.Pro1105Ser)
c.3310C>T (p.Pro1104Ser)
c.3019C>T (p.Pro1007Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38723478G>CCA352156211SCN10Ac.3304C>G (p.Pro1102Ala)
c.3301C>G (p.Pro1101Ala)
c.3328C>G (p.Pro1110Ala)
c.3010C>G (p.Pro1004Ala)
c.3313C>G (p.Pro1105Ala)
c.3310C>G (p.Pro1104Ala)
c.3019C>G (p.Pro1007Ala)
3g.38723478G=CA1358639734SCN10Ac.3304C= (p.Pro1102=)
c.3301C= (p.Pro1101=)
c.3328C= (p.Pro1110=)
c.3010C= (p.Pro1004=)
c.3313C= (p.Pro1105=)
c.3310C= (p.Pro1104=)
c.3019C= (p.Pro1007=)
3g.38723478G>TCA352156213SCN10Ac.3304C>A (p.Pro1102Thr)
c.3301C>A (p.Pro1101Thr)
c.3328C>A (p.Pro1110Thr)
c.3010C>A (p.Pro1004Thr)
c.3313C>A (p.Pro1105Thr)
c.3310C>A (p.Pro1104Thr)
c.3019C>A (p.Pro1007Thr)
3g.38723479G>ACA433138170SCN10Ac.3303C>T (p.Ile1101=)
c.3300C>T (p.Ile1100=)
c.3327C>T (p.Ile1109=)
c.3009C>T (p.Ile1003=)
c.3312C>T (p.Ile1104=)
c.3309C>T (p.Ile1103=)
c.3018C>T (p.Ile1006=)
3g.38723479G>CCA352156214SCN10Ac.3303C>G (p.Ile1101Met)
c.3300C>G (p.Ile1100Met)
c.3327C>G (p.Ile1109Met)
c.3009C>G (p.Ile1003Met)
c.3312C>G (p.Ile1104Met)
c.3309C>G (p.Ile1103Met)
c.3018C>G (p.Ile1006Met)
3g.38723479G>TCA433138171SCN10Ac.3303C>A (p.Ile1101=)
c.3300C>A (p.Ile1100=)
c.3327C>A (p.Ile1109=)
c.3009C>A (p.Ile1003=)
c.3312C>A (p.Ile1104=)
c.3309C>A (p.Ile1103=)
c.3018C>A (p.Ile1006=)
3g.38723480A=CA1358639735SCN10Ac.3302T= (p.Ile1101=)
c.3299T= (p.Ile1100=)
c.3326T= (p.Ile1109=)
c.3008T= (p.Ile1003=)
c.3311T= (p.Ile1104=)
c.3308T= (p.Ile1103=)
c.3017T= (p.Ile1006=)
3g.38723480A>CCA352156218SCN10Ac.3302T>G (p.Ile1101Ser)
c.3299T>G (p.Ile1100Ser)
c.3326T>G (p.Ile1109Ser)
c.3008T>G (p.Ile1003Ser)
c.3311T>G (p.Ile1104Ser)
c.3308T>G (p.Ile1103Ser)
c.3017T>G (p.Ile1006Ser)
3g.38723480A>GCA352156220SCN10Ac.3302T>C (p.Ile1101Thr)
c.3299T>C (p.Ile1100Thr)
c.3326T>C (p.Ile1109Thr)
c.3008T>C (p.Ile1003Thr)
c.3311T>C (p.Ile1104Thr)
c.3308T>C (p.Ile1103Thr)
c.3017T>C (p.Ile1006Thr)
3g.38723480A>TCA72958534SCN10Ac.3302T>A (p.Ile1101Asn)
c.3299T>A (p.Ile1100Asn)
c.3326T>A (p.Ile1109Asn)
c.3008T>A (p.Ile1003Asn)
c.3311T>A (p.Ile1104Asn)
c.3308T>A (p.Ile1103Asn)
c.3017T>A (p.Ile1006Asn)
 dbSNP gnomAD v4
3g.38723481T>ACA352156221SCN10Ac.3301A>T (p.Ile1101Phe)
c.3298A>T (p.Ile1100Phe)
c.3325A>T (p.Ile1109Phe)
c.3007A>T (p.Ile1003Phe)
c.3310A>T (p.Ile1104Phe)
c.3307A>T (p.Ile1103Phe)
c.3016A>T (p.Ile1006Phe)
3g.38723481T>CCA352156222SCN10Ac.3301A>G (p.Ile1101Val)
c.3298A>G (p.Ile1100Val)
c.3325A>G (p.Ile1109Val)
c.3007A>G (p.Ile1003Val)
c.3310A>G (p.Ile1104Val)
c.3307A>G (p.Ile1103Val)
c.3016A>G (p.Ile1006Val)
3g.38723481T>GCA352156223SCN10Ac.3301A>C (p.Ile1101Leu)
c.3298A>C (p.Ile1100Leu)
c.3325A>C (p.Ile1109Leu)
c.3007A>C (p.Ile1003Leu)
c.3310A>C (p.Ile1104Leu)
c.3307A>C (p.Ile1103Leu)
c.3016A>C (p.Ile1006Leu)
 gnomAD v4
3g.38723482C>ACA352156225SCN10Ac.3300G>T (p.Lys1100Asn)
c.3297G>T (p.Lys1099Asn)
c.3324G>T (p.Lys1108Asn)
c.3006G>T (p.Lys1002Asn)
c.3309G>T (p.Lys1103Asn)
c.3306G>T (p.Lys1102Asn)
c.3015G>T (p.Lys1005Asn)
3g.38723482C>GCA352156226SCN10Ac.3300G>C (p.Lys1100Asn)
c.3297G>C (p.Lys1099Asn)
c.3324G>C (p.Lys1108Asn)
c.3006G>C (p.Lys1002Asn)
c.3309G>C (p.Lys1103Asn)
c.3306G>C (p.Lys1102Asn)
c.3015G>C (p.Lys1005Asn)
3g.38723482C>TCA433138176SCN10Ac.3300G>A (p.Lys1100=)
c.3297G>A (p.Lys1099=)
c.3324G>A (p.Lys1108=)
c.3006G>A (p.Lys1002=)
c.3309G>A (p.Lys1103=)
c.3306G>A (p.Lys1102=)
c.3015G>A (p.Lys1005=)
3g.38723483T>ACA352156230SCN10Ac.3299A>T (p.Lys1100Met)
c.3296A>T (p.Lys1099Met)
c.3323A>T (p.Lys1108Met)
c.3005A>T (p.Lys1002Met)
c.3308A>T (p.Lys1103Met)
c.3305A>T (p.Lys1102Met)
c.3014A>T (p.Lys1005Met)
3g.38723483T>CCA72958537SCN10Ac.3299A>G (p.Lys1100Arg)
c.3296A>G (p.Lys1099Arg)
c.3323A>G (p.Lys1108Arg)
c.3005A>G (p.Lys1002Arg)
c.3308A>G (p.Lys1103Arg)
c.3305A>G (p.Lys1102Arg)
c.3014A>G (p.Lys1005Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38723483T>GCA352156229SCN10Ac.3299A>C (p.Lys1100Thr)
c.3296A>C (p.Lys1099Thr)
c.3323A>C (p.Lys1108Thr)
c.3005A>C (p.Lys1002Thr)
c.3308A>C (p.Lys1103Thr)
c.3305A>C (p.Lys1102Thr)
c.3014A>C (p.Lys1005Thr)
3g.38723483T=CA1358639736SCN10Ac.3299A= (p.Lys1100=)
c.3296A= (p.Lys1099=)
c.3323A= (p.Lys1108=)
c.3005A= (p.Lys1002=)
c.3308A= (p.Lys1103=)
c.3305A= (p.Lys1102=)
c.3014A= (p.Lys1005=)
3g.38723494_38723504delCA2577554041SCN10Ac.3289_3299del (p.Ile1097AspfsTer3)
c.3286_3296del (p.Ile1096AspfsTer3)
c.3313_3323del (p.Ile1105AspfsTer3)
c.2995_3005del (p.Ile999AspfsTer3)
c.3298_3308del (p.Ile1100AspfsTer3)
c.3295_3305del (p.Ile1099AspfsTer3)
c.3004_3014del (p.Ile1002AspfsTer3)
 gnomAD v4
3g.38723484T>ACA352156233SCN10Ac.3298A>T (p.Lys1100Ter)
c.3295A>T (p.Lys1099Ter)
c.3322A>T (p.Lys1108Ter)
c.3004A>T (p.Lys1002Ter)
c.3307A>T (p.Lys1103Ter)
c.3304A>T (p.Lys1102Ter)
c.3013A>T (p.Lys1005Ter)
3g.38723484T>CCA352156234SCN10Ac.3298A>G (p.Lys1100Glu)
c.3295A>G (p.Lys1099Glu)
c.3322A>G (p.Lys1108Glu)
c.3004A>G (p.Lys1002Glu)
c.3307A>G (p.Lys1103Glu)
c.3304A>G (p.Lys1102Glu)
c.3013A>G (p.Lys1005Glu)
3g.38723484T>GCA352156235SCN10Ac.3298A>C (p.Lys1100Gln)
c.3295A>C (p.Lys1099Gln)
c.3322A>C (p.Lys1108Gln)
c.3004A>C (p.Lys1002Gln)
c.3307A>C (p.Lys1103Gln)
c.3304A>C (p.Lys1102Gln)
c.3013A>C (p.Lys1005Gln)
3g.38723485C>ACA352156237SCN10Ac.3297G>T (p.Arg1099Ser)
c.3294G>T (p.Arg1098Ser)
c.3321G>T (p.Arg1107Ser)
c.3003G>T (p.Arg1001Ser)
c.3306G>T (p.Arg1102Ser)
c.3303G>T (p.Arg1101Ser)
c.3012G>T (p.Arg1004Ser)
3g.38723485C>GCA352156239SCN10Ac.3297G>C (p.Arg1099Ser)
c.3294G>C (p.Arg1098Ser)
c.3321G>C (p.Arg1107Ser)
c.3003G>C (p.Arg1001Ser)
c.3306G>C (p.Arg1102Ser)
c.3303G>C (p.Arg1101Ser)
c.3012G>C (p.Arg1004Ser)
3g.38723485C>TCA433138178SCN10Ac.3297G>A (p.Arg1099=)
c.3294G>A (p.Arg1098=)
c.3321G>A (p.Arg1107=)
c.3003G>A (p.Arg1001=)
c.3306G>A (p.Arg1102=)
c.3303G>A (p.Arg1101=)
c.3012G>A (p.Arg1004=)
3g.38723486C>ACA352156242SCN10Ac.3296G>T (p.Arg1099Met)
c.3293G>T (p.Arg1098Met)
c.3320G>T (p.Arg1107Met)
c.3002G>T (p.Arg1001Met)
c.3305G>T (p.Arg1102Met)
c.3302G>T (p.Arg1101Met)
c.3011G>T (p.Arg1004Met)
3g.38723486C=CA1358639737SCN10Ac.3296G= (p.Arg1099=)
c.3293G= (p.Arg1098=)
c.3320G= (p.Arg1107=)
c.3002G= (p.Arg1001=)
c.3305G= (p.Arg1102=)
c.3302G= (p.Arg1101=)
c.3011G= (p.Arg1004=)
3g.38723486C>GCA352156244SCN10Ac.3296G>C (p.Arg1099Thr)
c.3293G>C (p.Arg1098Thr)
c.3320G>C (p.Arg1107Thr)
c.3002G>C (p.Arg1001Thr)
c.3305G>C (p.Arg1102Thr)
c.3302G>C (p.Arg1101Thr)
c.3011G>C (p.Arg1004Thr)
3g.38723486C>TCA2320279SCN10Ac.3296G>A (p.Arg1099Lys)
c.3293G>A (p.Arg1098Lys)
c.3320G>A (p.Arg1107Lys)
c.3002G>A (p.Arg1001Lys)
c.3305G>A (p.Arg1102Lys)
c.3302G>A (p.Arg1101Lys)
c.3011G>A (p.Arg1004Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38723487T>ACA352156246SCN10Ac.3295A>T (p.Arg1099Trp)
c.3292A>T (p.Arg1098Trp)
c.3319A>T (p.Arg1107Trp)
c.3001A>T (p.Arg1001Trp)
c.3304A>T (p.Arg1102Trp)
c.3301A>T (p.Arg1101Trp)
c.3010A>T (p.Arg1004Trp)
3g.38723487T>CCA352156248SCN10Ac.3295A>G (p.Arg1099Gly)
c.3292A>G (p.Arg1098Gly)
c.3319A>G (p.Arg1107Gly)
c.3001A>G (p.Arg1001Gly)
c.3304A>G (p.Arg1102Gly)
c.3301A>G (p.Arg1101Gly)
c.3010A>G (p.Arg1004Gly)
3g.38723487T>GCA433138180SCN10Ac.3295A>C (p.Arg1099=)
c.3292A>C (p.Arg1098=)
c.3319A>C (p.Arg1107=)
c.3001A>C (p.Arg1001=)
c.3304A>C (p.Arg1102=)
c.3301A>C (p.Arg1101=)
c.3010A>C (p.Arg1004=)
 dbSNP
3g.38723487T=CA1358639738SCN10Ac.3295A= (p.Arg1099=)
c.3292A= (p.Arg1098=)
c.3319A= (p.Arg1107=)
c.3001A= (p.Arg1001=)
c.3304A= (p.Arg1102=)
c.3301A= (p.Arg1101=)
c.3010A= (p.Arg1004=)
3g.38723488C>ACA433138182SCN10Ac.3294G>T (p.Leu1098=)
c.3291G>T (p.Leu1097=)
c.3318G>T (p.Leu1106=)
c.3000G>T (p.Leu1000=)
c.3303G>T (p.Leu1101=)
c.3300G>T (p.Leu1100=)
c.3009G>T (p.Leu1003=)
3g.38723488C=CA1358639739SCN10Ac.3294G= (p.Leu1098=)
c.3291G= (p.Leu1097=)
c.3318G= (p.Leu1106=)
c.3000G= (p.Leu1000=)
c.3303G= (p.Leu1101=)
c.3300G= (p.Leu1100=)
c.3009G= (p.Leu1003=)
3g.38723488C>GCA433138184SCN10Ac.3294G>C (p.Leu1098=)
c.3291G>C (p.Leu1097=)
c.3318G>C (p.Leu1106=)
c.3000G>C (p.Leu1000=)
c.3303G>C (p.Leu1101=)
c.3300G>C (p.Leu1100=)
c.3009G>C (p.Leu1003=)
 gnomAD v4
3g.38723488C>TCA433138185SCN10Ac.3294G>A (p.Leu1098=)
c.3291G>A (p.Leu1097=)
c.3318G>A (p.Leu1106=)
c.3000G>A (p.Leu1000=)
c.3303G>A (p.Leu1101=)
c.3300G>A (p.Leu1100=)
c.3009G>A (p.Leu1003=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38723489A>CCA352156249SCN10Ac.3293T>G (p.Leu1098Arg)
c.3290T>G (p.Leu1097Arg)
c.3317T>G (p.Leu1106Arg)
c.2999T>G (p.Leu1000Arg)
c.3302T>G (p.Leu1101Arg)
c.3299T>G (p.Leu1100Arg)
c.3008T>G (p.Leu1003Arg)
3g.38723489A>GCA352156250SCN10Ac.3293T>C (p.Leu1098Pro)
c.3290T>C (p.Leu1097Pro)
c.3317T>C (p.Leu1106Pro)
c.2999T>C (p.Leu1000Pro)
c.3302T>C (p.Leu1101Pro)
c.3299T>C (p.Leu1100Pro)
c.3008T>C (p.Leu1003Pro)
3g.38723489A>TCA352156252SCN10Ac.3293T>A (p.Leu1098Gln)
c.3290T>A (p.Leu1097Gln)
c.3317T>A (p.Leu1106Gln)
c.2999T>A (p.Leu1000Gln)
c.3302T>A (p.Leu1101Gln)
c.3299T>A (p.Leu1100Gln)
c.3008T>A (p.Leu1003Gln)
3g.38723489_38723490delinsAGCA1358639740SCN10Ac.3292_3293delinsCT (p.Leu1098=)
c.3289_3290delinsCT (p.Leu1097=)
c.3316_3317delinsCT (p.Leu1106=)
c.2998_2999delinsCT (p.Leu1000=)
c.3301_3302delinsCT (p.Leu1101=)
c.3298_3299delinsCT (p.Leu1100=)
c.3007_3008delinsCT (p.Leu1003=)
3g.38723490G>ACA433138187SCN10Ac.3292C>T (p.Leu1098=)
c.3289C>T (p.Leu1097=)
c.3316C>T (p.Leu1106=)
c.2998C>T (p.Leu1000=)
c.3301C>T (p.Leu1101=)
c.3298C>T (p.Leu1100=)
c.3007C>T (p.Leu1003=)
3g.38723490G>CCA352156254SCN10Ac.3292C>G (p.Leu1098Val)
c.3289C>G (p.Leu1097Val)
c.3316C>G (p.Leu1106Val)
c.2998C>G (p.Leu1000Val)
c.3301C>G (p.Leu1101Val)
c.3298C>G (p.Leu1100Val)
c.3007C>G (p.Leu1003Val)
3g.38723490G>TCA352156256SCN10Ac.3292C>A (p.Leu1098Met)
c.3289C>A (p.Leu1097Met)
c.3316C>A (p.Leu1106Met)
c.2998C>A (p.Leu1000Met)
c.3301C>A (p.Leu1101Met)
c.3298C>A (p.Leu1100Met)
c.3007C>A (p.Leu1003Met)
3g.38723491delCA2320280SCN10Ac.3292del (p.Leu1098Ter)
c.3289del (p.Leu1097Ter)
c.3316del (p.Leu1106Ter)
c.2998del (p.Leu1000Ter)
c.3301del (p.Leu1101Ter)
c.3298del (p.Leu1100Ter)
c.3007del (p.Leu1003Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38723491G>ACA433138191SCN10Ac.3291C>T (p.Ile1097=)
c.3288C>T (p.Ile1096=)
c.3315C>T (p.Ile1105=)
c.2997C>T (p.Ile999=)
c.3300C>T (p.Ile1100=)
c.3297C>T (p.Ile1099=)
c.3006C>T (p.Ile1002=)
3g.38723491G>CCA2320281SCN10Ac.3291C>G (p.Ile1097Met)
c.3288C>G (p.Ile1096Met)
c.3315C>G (p.Ile1105Met)
c.2997C>G (p.Ile999Met)
c.3300C>G (p.Ile1100Met)
c.3297C>G (p.Ile1099Met)
c.3006C>G (p.Ile1002Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38723491G=CA1358639741SCN10Ac.3291C= (p.Ile1097=)
c.3288C= (p.Ile1096=)
c.3315C= (p.Ile1105=)
c.2997C= (p.Ile999=)
c.3300C= (p.Ile1100=)
c.3297C= (p.Ile1099=)
c.3006C= (p.Ile1002=)
3g.38723491G>TCA433138189SCN10Ac.3291C>A (p.Ile1097=)
c.3288C>A (p.Ile1096=)
c.3315C>A (p.Ile1105=)
c.2997C>A (p.Ile999=)
c.3300C>A (p.Ile1100=)
c.3297C>A (p.Ile1099=)
c.3006C>A (p.Ile1002=)
 gnomAD v4
3g.38723492A>CCA352156261SCN10Ac.3290T>G (p.Ile1097Ser)
c.3287T>G (p.Ile1096Ser)
c.3314T>G (p.Ile1105Ser)
c.2996T>G (p.Ile999Ser)
c.3299T>G (p.Ile1100Ser)
c.3296T>G (p.Ile1099Ser)
c.3005T>G (p.Ile1002Ser)
3g.38723492A>GCA352156263SCN10Ac.3290T>C (p.Ile1097Thr)
c.3287T>C (p.Ile1096Thr)
c.3314T>C (p.Ile1105Thr)
c.2996T>C (p.Ile999Thr)
c.3299T>C (p.Ile1100Thr)
c.3296T>C (p.Ile1099Thr)
c.3005T>C (p.Ile1002Thr)
3g.38723492A>TCA352156265SCN10Ac.3290T>A (p.Ile1097Asn)
c.3287T>A (p.Ile1096Asn)
c.3314T>A (p.Ile1105Asn)
c.2996T>A (p.Ile999Asn)
c.3299T>A (p.Ile1100Asn)
c.3296T>A (p.Ile1099Asn)
c.3005T>A (p.Ile1002Asn)
3g.38723493T>ACA352156271SCN10Ac.3289A>T (p.Ile1097Phe)
c.3286A>T (p.Ile1096Phe)
c.3313A>T (p.Ile1105Phe)
c.2995A>T (p.Ile999Phe)
c.3298A>T (p.Ile1100Phe)
c.3295A>T (p.Ile1099Phe)
c.3004A>T (p.Ile1002Phe)
 gnomAD v4
3g.38723493T>CCA352156269SCN10Ac.3289A>G (p.Ile1097Val)
c.3286A>G (p.Ile1096Val)
c.3313A>G (p.Ile1105Val)
c.2995A>G (p.Ile999Val)
c.3298A>G (p.Ile1100Val)
c.3295A>G (p.Ile1099Val)
c.3004A>G (p.Ile1002Val)
3g.38723493T>GCA352156267SCN10Ac.3289A>C (p.Ile1097Leu)
c.3286A>C (p.Ile1096Leu)
c.3313A>C (p.Ile1105Leu)
c.2995A>C (p.Ile999Leu)
c.3298A>C (p.Ile1100Leu)
c.3295A>C (p.Ile1099Leu)
c.3004A>C (p.Ile1002Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38723493T=CA1358639742SCN10Ac.3289A= (p.Ile1097=)
c.3286A= (p.Ile1096=)
c.3313A= (p.Ile1105=)
c.2995A= (p.Ile999=)
c.3298A= (p.Ile1100=)
c.3295A= (p.Ile1099=)
c.3004A= (p.Ile1002=)
3g.38723494T>ACA352156275SCN10Ac.3288A>T (p.Glu1096Asp)
c.3285A>T (p.Glu1095Asp)
c.3312A>T (p.Glu1104Asp)
c.2994A>T (p.Glu998Asp)
c.3297A>T (p.Glu1099Asp)
c.3294A>T (p.Glu1098Asp)
c.3003A>T (p.Glu1001Asp)
3g.38723494T>CCA433138197SCN10Ac.3288A>G (p.Glu1096=)
c.3285A>G (p.Glu1095=)
c.3312A>G (p.Glu1104=)
c.2994A>G (p.Glu998=)
c.3297A>G (p.Glu1099=)
c.3294A>G (p.Glu1098=)
c.3003A>G (p.Glu1001=)
 dbSNP
3g.38723494T>GCA352156273SCN10Ac.3288A>C (p.Glu1096Asp)
c.3285A>C (p.Glu1095Asp)
c.3312A>C (p.Glu1104Asp)
c.2994A>C (p.Glu998Asp)
c.3297A>C (p.Glu1099Asp)
c.3294A>C (p.Glu1098Asp)
c.3003A>C (p.Glu1001Asp)
3g.38723495T>ACA352156280SCN10Ac.3287A>T (p.Glu1096Val)
c.3284A>T (p.Glu1095Val)
c.3311A>T (p.Glu1104Val)
c.2993A>T (p.Glu998Val)
c.3296A>T (p.Glu1099Val)
c.3293A>T (p.Glu1098Val)
c.3002A>T (p.Glu1001Val)
3g.38723495T>CCA352156277SCN10Ac.3287A>G (p.Glu1096Gly)
c.3284A>G (p.Glu1095Gly)
c.3311A>G (p.Glu1104Gly)
c.2993A>G (p.Glu998Gly)
c.3296A>G (p.Glu1099Gly)
c.3293A>G (p.Glu1098Gly)
c.3002A>G (p.Glu1001Gly)
3g.38723495T>GCA352156279SCN10Ac.3287A>C (p.Glu1096Ala)
c.3284A>C (p.Glu1095Ala)
c.3311A>C (p.Glu1104Ala)
c.2993A>C (p.Glu998Ala)
c.3296A>C (p.Glu1099Ala)
c.3293A>C (p.Glu1098Ala)
c.3002A>C (p.Glu1001Ala)
3g.38723496_38723506delCA2665104883SCN10Ac.3277_3287del (p.Asp1093AsnfsTer7)
c.3274_3284del (p.Asp1092AsnfsTer7)
c.3301_3311del (p.Asp1101AsnfsTer7)
c.2983_2993del (p.Asp995AsnfsTer7)
c.3286_3296del (p.Asp1096AsnfsTer7)
c.3283_3293del (p.Asp1095AsnfsTer7)
c.2992_3002del (p.Asp998AsnfsTer7)
 gnomAD v4
3g.38723496C>ACA352156281SCN10Ac.3286G>T (p.Glu1096Ter)
c.3283G>T (p.Glu1095Ter)
c.3310G>T (p.Glu1104Ter)
c.2992G>T (p.Glu998Ter)
c.3295G>T (p.Glu1099Ter)
c.3292G>T (p.Glu1098Ter)
c.3001G>T (p.Glu1001Ter)
3g.38723496C>GCA352156282SCN10Ac.3286G>C (p.Glu1096Gln)
c.3283G>C (p.Glu1095Gln)
c.3310G>C (p.Glu1104Gln)
c.2992G>C (p.Glu998Gln)
c.3295G>C (p.Glu1099Gln)
c.3292G>C (p.Glu1098Gln)
c.3001G>C (p.Glu1001Gln)
3g.38723496C>TCA352156283SCN10Ac.3286G>A (p.Glu1096Lys)
c.3283G>A (p.Glu1095Lys)
c.3310G>A (p.Glu1104Lys)
c.2992G>A (p.Glu998Lys)
c.3295G>A (p.Glu1099Lys)
c.3292G>A (p.Glu1098Lys)
c.3001G>A (p.Glu1001Lys)
 gnomAD v4 COSMIC
3g.38723497C>ACA352156286SCN10Ac.3285G>T (p.Glu1095Asp)
c.3282G>T (p.Glu1094Asp)
c.3309G>T (p.Glu1103Asp)
c.2991G>T (p.Glu997Asp)
c.3294G>T (p.Glu1098Asp)
c.3291G>T (p.Glu1097Asp)
c.3000G>T (p.Glu1000Asp)
3g.38723497C>GCA352156287SCN10Ac.3285G>C (p.Glu1095Asp)
c.3282G>C (p.Glu1094Asp)
c.3309G>C (p.Glu1103Asp)
c.2991G>C (p.Glu997Asp)
c.3294G>C (p.Glu1098Asp)
c.3291G>C (p.Glu1097Asp)
c.3000G>C (p.Glu1000Asp)
3g.38723497C>TCA433138200SCN10Ac.3285G>A (p.Glu1095=)
c.3282G>A (p.Glu1094=)
c.3309G>A (p.Glu1103=)
c.2991G>A (p.Glu997=)
c.3294G>A (p.Glu1098=)
c.3291G>A (p.Glu1097=)
c.3000G>A (p.Glu1000=)
3g.38723498T>ACA352156289SCN10Ac.3284A>T (p.Glu1095Val)
c.3281A>T (p.Glu1094Val)
c.3308A>T (p.Glu1103Val)
c.2990A>T (p.Glu997Val)
c.3293A>T (p.Glu1098Val)
c.3290A>T (p.Glu1097Val)
c.2999A>T (p.Glu1000Val)
 dbSNP gnomAD v2 gnomAD v4
3g.38723498T>CCA352156291SCN10Ac.3284A>G (p.Glu1095Gly)
c.3281A>G (p.Glu1094Gly)
c.3308A>G (p.Glu1103Gly)
c.2990A>G (p.Glu997Gly)
c.3293A>G (p.Glu1098Gly)
c.3290A>G (p.Glu1097Gly)
c.2999A>G (p.Glu1000Gly)
 COSMIC
3g.38723498T>GCA352156293SCN10Ac.3284A>C (p.Glu1095Ala)
c.3281A>C (p.Glu1094Ala)
c.3308A>C (p.Glu1103Ala)
c.2990A>C (p.Glu997Ala)
c.3293A>C (p.Glu1098Ala)
c.3290A>C (p.Glu1097Ala)
c.2999A>C (p.Glu1000Ala)
3g.38723498T=CA1358639743SCN10Ac.3284A= (p.Glu1095=)
c.3281A= (p.Glu1094=)
c.3308A= (p.Glu1103=)
c.2990A= (p.Glu997=)
c.3293A= (p.Glu1098=)
c.3290A= (p.Glu1097=)
c.2999A= (p.Glu1000=)
3g.38723499C>ACA352156294SCN10Ac.3283G>T (p.Glu1095Ter)
c.3280G>T (p.Glu1094Ter)
c.3307G>T (p.Glu1103Ter)
c.2989G>T (p.Glu997Ter)
c.3292G>T (p.Glu1098Ter)
c.3289G>T (p.Glu1097Ter)
c.2998G>T (p.Glu1000Ter)
3g.38723499C=CA1358639744SCN10Ac.3283G= (p.Glu1095=)
c.3280G= (p.Glu1094=)
c.3307G= (p.Glu1103=)
c.2989G= (p.Glu997=)
c.3292G= (p.Glu1098=)
c.3289G= (p.Glu1097=)
c.2998G= (p.Glu1000=)
3g.38723499C>GCA352156296SCN10Ac.3283G>C (p.Glu1095Gln)
c.3280G>C (p.Glu1094Gln)
c.3307G>C (p.Glu1103Gln)
c.2989G>C (p.Glu997Gln)
c.3292G>C (p.Glu1098Gln)
c.3289G>C (p.Glu1097Gln)
c.2998G>C (p.Glu1000Gln)
3g.38723499C>TCA352156297SCN10Ac.3283G>A (p.Glu1095Lys)
c.3280G>A (p.Glu1094Lys)
c.3307G>A (p.Glu1103Lys)
c.2989G>A (p.Glu997Lys)
c.3292G>A (p.Glu1098Lys)
c.3289G>A (p.Glu1097Lys)
c.2998G>A (p.Glu1000Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.38723500A>CCA433138202SCN10Ac.3282T>G (p.Pro1094=)
c.3279T>G (p.Pro1093=)
c.3306T>G (p.Pro1102=)
c.2988T>G (p.Pro996=)
c.3291T>G (p.Pro1097=)
c.3288T>G (p.Pro1096=)
c.2997T>G (p.Pro999=)
3g.38723500A>GCA433138203SCN10Ac.3282T>C (p.Pro1094=)
c.3279T>C (p.Pro1093=)
c.3306T>C (p.Pro1102=)
c.2988T>C (p.Pro996=)
c.3291T>C (p.Pro1097=)
c.3288T>C (p.Pro1096=)
c.2997T>C (p.Pro999=)
 gnomAD v4
3g.38723500A>TCA433138204SCN10Ac.3282T>A (p.Pro1094=)
c.3279T>A (p.Pro1093=)
c.3306T>A (p.Pro1102=)
c.2988T>A (p.Pro996=)
c.3291T>A (p.Pro1097=)
c.3288T>A (p.Pro1096=)
c.2997T>A (p.Pro999=)
 gnomAD v4
3g.38723501G>ACA352156303SCN10Ac.3281C>T (p.Pro1094Leu)
c.3278C>T (p.Pro1093Leu)
c.3305C>T (p.Pro1102Leu)
c.2987C>T (p.Pro996Leu)
c.3290C>T (p.Pro1097Leu)
c.3287C>T (p.Pro1096Leu)
c.2996C>T (p.Pro999Leu)
 dbSNP
3g.38723501G>CCA352156300SCN10Ac.3281C>G (p.Pro1094Arg)
c.3278C>G (p.Pro1093Arg)
c.3305C>G (p.Pro1102Arg)
c.2987C>G (p.Pro996Arg)
c.3290C>G (p.Pro1097Arg)
c.3287C>G (p.Pro1096Arg)
c.2996C>G (p.Pro999Arg)
3g.38723501G=CA1358639745SCN10Ac.3281C= (p.Pro1094=)
c.3278C= (p.Pro1093=)
c.3305C= (p.Pro1102=)
c.2987C= (p.Pro996=)
c.3290C= (p.Pro1097=)
c.3287C= (p.Pro1096=)
c.2996C= (p.Pro999=)
3g.38723501G>TCA352156302SCN10Ac.3281C>A (p.Pro1094His)
c.3278C>A (p.Pro1093His)
c.3305C>A (p.Pro1102His)
c.2987C>A (p.Pro996His)
c.3290C>A (p.Pro1097His)
c.3287C>A (p.Pro1096His)
c.2996C>A (p.Pro999His)
3g.38723502G>ACA352156305SCN10Ac.3280C>T (p.Pro1094Ser)
c.3277C>T (p.Pro1093Ser)
c.3304C>T (p.Pro1102Ser)
c.2986C>T (p.Pro996Ser)
c.3289C>T (p.Pro1097Ser)
c.3286C>T (p.Pro1096Ser)
c.2995C>T (p.Pro999Ser)
 COSMIC
3g.38723502G>CCA352156308SCN10Ac.3280C>G (p.Pro1094Ala)
c.3277C>G (p.Pro1093Ala)
c.3304C>G (p.Pro1102Ala)
c.2986C>G (p.Pro996Ala)
c.3289C>G (p.Pro1097Ala)
c.3286C>G (p.Pro1096Ala)
c.2995C>G (p.Pro999Ala)
3g.38723502G=CA1358639746SCN10Ac.3280C= (p.Pro1094=)
c.3277C= (p.Pro1093=)
c.3304C= (p.Pro1102=)
c.2986C= (p.Pro996=)
c.3289C= (p.Pro1097=)
c.3286C= (p.Pro1096=)
c.2995C= (p.Pro999=)
3g.38723502G>TCA72958557SCN10Ac.3280C>A (p.Pro1094Thr)
c.3277C>A (p.Pro1093Thr)
c.3304C>A (p.Pro1102Thr)
c.2986C>A (p.Pro996Thr)
c.3289C>A (p.Pro1097Thr)
c.3286C>A (p.Pro1096Thr)
c.2995C>A (p.Pro999Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38723503A>CCA352156310SCN10Ac.3279T>G (p.Asp1093Glu)
c.3276T>G (p.Asp1092Glu)
c.3303T>G (p.Asp1101Glu)
c.2985T>G (p.Asp995Glu)
c.3288T>G (p.Asp1096Glu)
c.3285T>G (p.Asp1095Glu)
c.2994T>G (p.Asp998Glu)
3g.38723503A>GCA433138206SCN10Ac.3279T>C (p.Asp1093=)
c.3276T>C (p.Asp1092=)
c.3303T>C (p.Asp1101=)
c.2985T>C (p.Asp995=)
c.3288T>C (p.Asp1096=)
c.3285T>C (p.Asp1095=)
c.2994T>C (p.Asp998=)
3g.38723503A>TCA352156311SCN10Ac.3279T>A (p.Asp1093Glu)
c.3276T>A (p.Asp1092Glu)
c.3303T>A (p.Asp1101Glu)
c.2985T>A (p.Asp995Glu)
c.3288T>A (p.Asp1096Glu)
c.3285T>A (p.Asp1095Glu)
c.2994T>A (p.Asp998Glu)
3g.38723504T>ACA352156314SCN10Ac.3278A>T (p.Asp1093Val)
c.3275A>T (p.Asp1092Val)
c.3302A>T (p.Asp1101Val)
c.2984A>T (p.Asp995Val)
c.3287A>T (p.Asp1096Val)
c.3284A>T (p.Asp1095Val)
c.2993A>T (p.Asp998Val)
3g.38723504T>CCA352156316SCN10Ac.3278A>G (p.Asp1093Gly)
c.3275A>G (p.Asp1092Gly)
c.3302A>G (p.Asp1101Gly)
c.2984A>G (p.Asp995Gly)
c.3287A>G (p.Asp1096Gly)
c.3284A>G (p.Asp1095Gly)
c.2993A>G (p.Asp998Gly)
3g.38723504T>GCA352156317SCN10Ac.3278A>C (p.Asp1093Ala)
c.3275A>C (p.Asp1092Ala)
c.3302A>C (p.Asp1101Ala)
c.2984A>C (p.Asp995Ala)
c.3287A>C (p.Asp1096Ala)
c.3284A>C (p.Asp1095Ala)
c.2993A>C (p.Asp998Ala)
3g.38723505C>ACA352156319SCN10Ac.3277G>T (p.Asp1093Tyr)
c.3274G>T (p.Asp1092Tyr)
c.3301G>T (p.Asp1101Tyr)
c.2983G>T (p.Asp995Tyr)
c.3286G>T (p.Asp1096Tyr)
c.3283G>T (p.Asp1095Tyr)
c.2992G>T (p.Asp998Tyr)
3g.38723505C>GCA352156321SCN10Ac.3277G>C (p.Asp1093His)
c.3274G>C (p.Asp1092His)
c.3301G>C (p.Asp1101His)
c.2983G>C (p.Asp995His)
c.3286G>C (p.Asp1096His)
c.3283G>C (p.Asp1095His)
c.2992G>C (p.Asp998His)
3g.38723505C>TCA352156322SCN10Ac.3277G>A (p.Asp1093Asn)
c.3274G>A (p.Asp1092Asn)
c.3301G>A (p.Asp1101Asn)
c.2983G>A (p.Asp995Asn)
c.3286G>A (p.Asp1096Asn)
c.3283G>A (p.Asp1095Asn)
c.2992G>A (p.Asp998Asn)
3g.38723506T>ACA433138211SCN10Ac.3276A>T (p.Leu1092=)
c.3273A>T (p.Leu1091=)
c.3300A>T (p.Leu1100=)
c.2982A>T (p.Leu994=)
c.3285A>T (p.Leu1095=)
c.3282A>T (p.Leu1094=)
c.2991A>T (p.Leu997=)
3g.38723506T>CCA433138212SCN10Ac.3276A>G (p.Leu1092=)
c.3273A>G (p.Leu1091=)
c.3300A>G (p.Leu1100=)
c.2982A>G (p.Leu994=)
c.3285A>G (p.Leu1095=)
c.3282A>G (p.Leu1094=)
c.2991A>G (p.Leu997=)
3g.38723506T>GCA433138213SCN10Ac.3276A>C (p.Leu1092=)
c.3273A>C (p.Leu1091=)
c.3300A>C (p.Leu1100=)
c.2982A>C (p.Leu994=)
c.3285A>C (p.Leu1095=)
c.3282A>C (p.Leu1094=)
c.2991A>C (p.Leu997=)
3g.38723506_38723507delinsTACA1358639747SCN10Ac.3275_3276delinsTA (p.Leu1092=)
c.3272_3273delinsTA (p.Leu1091=)
c.3299_3300delinsTA (p.Leu1100=)
c.2981_2982delinsTA (p.Leu994=)
c.3284_3285delinsTA (p.Leu1095=)
c.3281_3282delinsTA (p.Leu1094=)
c.2990_2991delinsTA (p.Leu997=)
3g.38723507delCA906863819SCN10Ac.3275del (p.Leu1092GlnfsTer7)
c.3272del (p.Leu1091GlnfsTer7)
c.3299del (p.Leu1100GlnfsTer7)
c.2981del (p.Leu994GlnfsTer7)
c.3284del (p.Leu1095GlnfsTer7)
c.3281del (p.Leu1094GlnfsTer7)
c.2990del (p.Leu997GlnfsTer7)
 dbSNP
3g.38723507A=CA1358639748SCN10Ac.3275T= (p.Leu1092=)
c.3272T= (p.Leu1091=)
c.3299T= (p.Leu1100=)
c.2981T= (p.Leu994=)
c.3284T= (p.Leu1095=)
c.3281T= (p.Leu1094=)
c.2990T= (p.Leu997=)
3g.38723507A>CCA352156328SCN10Ac.3275T>G (p.Leu1092Arg)
c.3272T>G (p.Leu1091Arg)
c.3299T>G (p.Leu1100Arg)
c.2981T>G (p.Leu994Arg)
c.3284T>G (p.Leu1095Arg)
c.3281T>G (p.Leu1094Arg)
c.2990T>G (p.Leu997Arg)
3g.38723507A>GCA2320282SCN10Ac.3275T>C (p.Leu1092Pro)
c.3272T>C (p.Leu1091Pro)
c.3299T>C (p.Leu1100Pro)
c.2981T>C (p.Leu994Pro)
c.3284T>C (p.Leu1095Pro)
c.3281T>C (p.Leu1094Pro)
c.2990T>C (p.Leu997Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38723507A>TCA352156325SCN10Ac.3275T>A (p.Leu1092Gln)
c.3272T>A (p.Leu1091Gln)
c.3299T>A (p.Leu1100Gln)
c.2981T>A (p.Leu994Gln)
c.3284T>A (p.Leu1095Gln)
c.3281T>A (p.Leu1094Gln)
c.2990T>A (p.Leu997Gln)
 dbSNP
3g.38723508G>ACA433138214SCN10Ac.3274C>T (p.Leu1092=)
c.3271C>T (p.Leu1091=)
c.3298C>T (p.Leu1100=)
c.2980C>T (p.Leu994=)
c.3283C>T (p.Leu1095=)
c.3280C>T (p.Leu1094=)
c.2989C>T (p.Leu997=)
3g.38723508G>CCA352156330SCN10Ac.3274C>G (p.Leu1092Val)
c.3271C>G (p.Leu1091Val)
c.3298C>G (p.Leu1100Val)
c.2980C>G (p.Leu994Val)
c.3283C>G (p.Leu1095Val)
c.3280C>G (p.Leu1094Val)
c.2989C>G (p.Leu997Val)
 gnomAD v4
3g.38723508G>TCA352156332SCN10Ac.3274C>A (p.Leu1092Ile)
c.3271C>A (p.Leu1091Ile)
c.3298C>A (p.Leu1100Ile)
c.2980C>A (p.Leu994Ile)
c.3283C>A (p.Leu1095Ile)
c.3280C>A (p.Leu1094Ile)
c.2989C>A (p.Leu997Ile)
3g.38723509G>ACA433138217SCN10Ac.3273C>T (p.Cys1091=)
c.3270C>T (p.Cys1090=)
c.3297C>T (p.Cys1099=)
c.2979C>T (p.Cys993=)
c.3282C>T (p.Cys1094=)
c.3279C>T (p.Cys1093=)
c.2988C>T (p.Cys996=)
 dbSNP gnomAD v2 gnomAD v4
3g.38723509G>CCA352156335SCN10Ac.3273C>G (p.Cys1091Trp)
c.3270C>G (p.Cys1090Trp)
c.3297C>G (p.Cys1099Trp)
c.2979C>G (p.Cys993Trp)
c.3282C>G (p.Cys1094Trp)
c.3279C>G (p.Cys1093Trp)
c.2988C>G (p.Cys996Trp)
3g.38723509G=CA1358639749SCN10Ac.3273C= (p.Cys1091=)
c.3270C= (p.Cys1090=)
c.3297C= (p.Cys1099=)
c.2979C= (p.Cys993=)
c.3282C= (p.Cys1094=)
c.3279C= (p.Cys1093=)
c.2988C= (p.Cys996=)
3g.38723509G>TCA352156336SCN10Ac.3273C>A (p.Cys1091Ter)
c.3270C>A (p.Cys1090Ter)
c.3297C>A (p.Cys1099Ter)
c.2979C>A (p.Cys993Ter)
c.3282C>A (p.Cys1094Ter)
c.3279C>A (p.Cys1093Ter)
c.2988C>A (p.Cys996Ter)
3g.38723510C>ACA352156339SCN10Ac.3272G>T (p.Cys1091Phe)
c.3269G>T (p.Cys1090Phe)
c.3296G>T (p.Cys1099Phe)
c.2978G>T (p.Cys993Phe)
c.3281G>T (p.Cys1094Phe)
c.3278G>T (p.Cys1093Phe)
c.2987G>T (p.Cys996Phe)
3g.38723510C>GCA352156340SCN10Ac.3272G>C (p.Cys1091Ser)
c.3269G>C (p.Cys1090Ser)
c.3296G>C (p.Cys1099Ser)
c.2978G>C (p.Cys993Ser)
c.3281G>C (p.Cys1094Ser)
c.3278G>C (p.Cys1093Ser)
c.2987G>C (p.Cys996Ser)
3g.38723510C>TCA352156342SCN10Ac.3272G>A (p.Cys1091Tyr)
c.3269G>A (p.Cys1090Tyr)
c.3296G>A (p.Cys1099Tyr)
c.2978G>A (p.Cys993Tyr)
c.3281G>A (p.Cys1094Tyr)
c.3278G>A (p.Cys1093Tyr)
c.2987G>A (p.Cys996Tyr)
3g.38723511A=CA1358639750SCN10Ac.3271T= (p.Cys1091=)
c.3268T= (p.Cys1090=)
c.3295T= (p.Cys1099=)
c.2977T= (p.Cys993=)
c.3280T= (p.Cys1094=)
c.3277T= (p.Cys1093=)
c.2986T= (p.Cys996=)
3g.38723511A>CCA352156344SCN10Ac.3271T>G (p.Cys1091Gly)
c.3268T>G (p.Cys1090Gly)
c.3295T>G (p.Cys1099Gly)
c.2977T>G (p.Cys993Gly)
c.3280T>G (p.Cys1094Gly)
c.3277T>G (p.Cys1093Gly)
c.2986T>G (p.Cys996Gly)
3g.38723511A>GCA352156345SCN10Ac.3271T>C (p.Cys1091Arg)
c.3268T>C (p.Cys1090Arg)
c.3295T>C (p.Cys1099Arg)
c.2977T>C (p.Cys993Arg)
c.3280T>C (p.Cys1094Arg)
c.3277T>C (p.Cys1093Arg)
c.2986T>C (p.Cys996Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.38723511A>TCA352156347SCN10Ac.3271T>A (p.Cys1091Ser)
c.3268T>A (p.Cys1090Ser)
c.3295T>A (p.Cys1099Ser)
c.2977T>A (p.Cys993Ser)
c.3280T>A (p.Cys1094Ser)
c.3277T>A (p.Cys1093Ser)
c.2986T>A (p.Cys996Ser)
3g.38723511_38723512insTGGTTTAAACTTCTTTATGTCAAGCA2665104913SCN10Ac.3270_3271insCTTGACATAAAGAAGTTTAAACCA (p.Asp1090_Cys1091insLeuAspIleLysLysPheLysPro)
c.3267_3268insCTTGACATAAAGAAGTTTAAACCA (p.Asp1089_Cys1090insLeuAspIleLysLysPheLysPro)
c.3294_3295insCTTGACATAAAGAAGTTTAAACCA (p.Asp1098_Cys1099insLeuAspIleLysLysPheLysPro)
c.2976_2977insCTTGACATAAAGAAGTTTAAACCA (p.Asp992_Cys993insLeuAspIleLysLysPheLysPro)
c.3279_3280insCTTGACATAAAGAAGTTTAAACCA (p.Asp1093_Cys1094insLeuAspIleLysLysPheLysPro)
c.3276_3277insCTTGACATAAAGAAGTTTAAACCA (p.Asp1092_Cys1093insLeuAspIleLysLysPheLysPro)
c.2985_2986insCTTGACATAAAGAAGTTTAAACCA (p.Asp995_Cys996insLeuAspIleLysLysPheLysPro)
 gnomAD v4
3g.38723511_38723512insTGGTTTAAACTTCTTTATGTCAAGGTCTCCTCTCA2665104915SCN10Ac.3270_3271insAGAGGAGACCTTGACATAAAGAAGTTTAAACCA (p.Asp1090_Cys1091insArgGlyAspLeuAspIleLysLysPheLysPro)
c.3267_3268insAGAGGAGACCTTGACATAAAGAAGTTTAAACCA (p.Asp1089_Cys1090insArgGlyAspLeuAspIleLysLysPheLysPro)
c.3294_3295insAGAGGAGACCTTGACATAAAGAAGTTTAAACCA (p.Asp1098_Cys1099insArgGlyAspLeuAspIleLysLysPheLysPro)
c.2976_2977insAGAGGAGACCTTGACATAAAGAAGTTTAAACCA (p.Asp992_Cys993insArgGlyAspLeuAspIleLysLysPheLysPro)
c.3279_3280insAGAGGAGACCTTGACATAAAGAAGTTTAAACCA (p.Asp1093_Cys1094insArgGlyAspLeuAspIleLysLysPheLysPro)
c.3276_3277insAGAGGAGACCTTGACATAAAGAAGTTTAAACCA (p.Asp1092_Cys1093insArgGlyAspLeuAspIleLysLysPheLysPro)
c.2985_2986insAGAGGAGACCTTGACATAAAGAAGTTTAAACCA (p.Asp995_Cys996insArgGlyAspLeuAspIleLysLysPheLysPro)
 gnomAD v4
3g.38723512G>ACA2320283SCN10Ac.3270C>T (p.Asp1090=)
c.3267C>T (p.Asp1089=)
c.3294C>T (p.Asp1098=)
c.2976C>T (p.Asp992=)
c.3279C>T (p.Asp1093=)
c.3276C>T (p.Asp1092=)
c.2985C>T (p.Asp995=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38723512G>CCA352156350SCN10Ac.3270C>G (p.Asp1090Glu)
c.3267C>G (p.Asp1089Glu)
c.3294C>G (p.Asp1098Glu)
c.2976C>G (p.Asp992Glu)
c.3279C>G (p.Asp1093Glu)
c.3276C>G (p.Asp1092Glu)
c.2985C>G (p.Asp995Glu)
3g.38723512G=CA1358639751SCN10Ac.3270C= (p.Asp1090=)
c.3267C= (p.Asp1089=)
c.3294C= (p.Asp1098=)
c.2976C= (p.Asp992=)
c.3279C= (p.Asp1093=)
c.3276C= (p.Asp1092=)
c.2985C= (p.Asp995=)
3g.38723512G>TCA352156352SCN10Ac.3270C>A (p.Asp1090Glu)
c.3267C>A (p.Asp1089Glu)
c.3294C>A (p.Asp1098Glu)
c.2976C>A (p.Asp992Glu)
c.3279C>A (p.Asp1093Glu)
c.3276C>A (p.Asp1092Glu)
c.2985C>A (p.Asp995Glu)
3g.38723513T>ACA352156358SCN10Ac.3269A>T (p.Asp1090Val)
c.3266A>T (p.Asp1089Val)
c.3293A>T (p.Asp1098Val)
c.2975A>T (p.Asp992Val)
c.3278A>T (p.Asp1093Val)
c.3275A>T (p.Asp1092Val)
c.2984A>T (p.Asp995Val)
3g.38723513T>CCA352156354SCN10Ac.3269A>G (p.Asp1090Gly)
c.3266A>G (p.Asp1089Gly)
c.3293A>G (p.Asp1098Gly)
c.2975A>G (p.Asp992Gly)
c.3278A>G (p.Asp1093Gly)
c.3275A>G (p.Asp1092Gly)
c.2984A>G (p.Asp995Gly)
3g.38723513T>GCA352156356SCN10Ac.3269A>C (p.Asp1090Ala)
c.3266A>C (p.Asp1089Ala)
c.3293A>C (p.Asp1098Ala)
c.2975A>C (p.Asp992Ala)
c.3278A>C (p.Asp1093Ala)
c.3275A>C (p.Asp1092Ala)
c.2984A>C (p.Asp995Ala)
3g.38723514C>ACA352156360SCN10Ac.3268G>T (p.Asp1090Tyr)
c.3265G>T (p.Asp1089Tyr)
c.3292G>T (p.Asp1098Tyr)
c.2974G>T (p.Asp992Tyr)
c.3277G>T (p.Asp1093Tyr)
c.3274G>T (p.Asp1092Tyr)
c.2983G>T (p.Asp995Tyr)
3g.38723514C>GCA352156362SCN10Ac.3268G>C (p.Asp1090His)
c.3265G>C (p.Asp1089His)
c.3292G>C (p.Asp1098His)
c.2974G>C (p.Asp992His)
c.3277G>C (p.Asp1093His)
c.3274G>C (p.Asp1092His)
c.2983G>C (p.Asp995His)
3g.38723514C>TCA352156363SCN10Ac.3268G>A (p.Asp1090Asn)
c.3265G>A (p.Asp1089Asn)
c.3292G>A (p.Asp1098Asn)
c.2974G>A (p.Asp992Asn)
c.3277G>A (p.Asp1093Asn)
c.3274G>A (p.Asp1092Asn)
c.2983G>A (p.Asp995Asn)
3g.38723515C>ACA433138226SCN10Ac.3267G>T (p.Val1089=)
c.3264G>T (p.Val1088=)
c.3291G>T (p.Val1097=)
c.2973G>T (p.Val991=)
c.3276G>T (p.Val1092=)
c.3273G>T (p.Val1091=)
c.2982G>T (p.Val994=)
3g.38723515C>GCA433138227SCN10Ac.3267G>C (p.Val1089=)
c.3264G>C (p.Val1088=)
c.3291G>C (p.Val1097=)
c.2973G>C (p.Val991=)
c.3276G>C (p.Val1092=)
c.3273G>C (p.Val1091=)
c.2982G>C (p.Val994=)
3g.38723515C>TCA433138228SCN10Ac.3267G>A (p.Val1089=)
c.3264G>A (p.Val1088=)
c.3291G>A (p.Val1097=)
c.2973G>A (p.Val991=)
c.3276G>A (p.Val1092=)
c.3273G>A (p.Val1091=)
c.2982G>A (p.Val994=)
 gnomAD v4
3g.38723516A=CA1358639752SCN10Ac.3266T= (p.Val1089=)
c.3263T= (p.Val1088=)
c.3290T= (p.Val1097=)
c.2972T= (p.Val991=)
c.3275T= (p.Val1092=)
c.3272T= (p.Val1091=)
c.2981T= (p.Val994=)
3g.38723516A>CCA352156365SCN10Ac.3266T>G (p.Val1089Gly)
c.3263T>G (p.Val1088Gly)
c.3290T>G (p.Val1097Gly)
c.2972T>G (p.Val991Gly)
c.3275T>G (p.Val1092Gly)
c.3272T>G (p.Val1091Gly)
c.2981T>G (p.Val994Gly)
3g.38723516A>GCA2320284SCN10Ac.3266T>C (p.Val1089Ala)
c.3263T>C (p.Val1088Ala)
c.3290T>C (p.Val1097Ala)
c.2972T>C (p.Val991Ala)
c.3275T>C (p.Val1092Ala)
c.3272T>C (p.Val1091Ala)
c.2981T>C (p.Val994Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38723516A>TCA352156368SCN10Ac.3266T>A (p.Val1089Glu)
c.3263T>A (p.Val1088Glu)
c.3290T>A (p.Val1097Glu)
c.2972T>A (p.Val991Glu)
c.3275T>A (p.Val1092Glu)
c.3272T>A (p.Val1091Glu)
c.2981T>A (p.Val994Glu)
3g.38723516_38723517delinsACCA1358639753SCN10Ac.3265_3266delinsGT (p.Val1089=)
c.3262_3263delinsGT (p.Val1088=)
c.3289_3290delinsGT (p.Val1097=)
c.2971_2972delinsGT (p.Val991=)
c.3274_3275delinsGT (p.Val1092=)
c.3271_3272delinsGT (p.Val1091=)
c.2980_2981delinsGT (p.Val994=)
3g.38723517C>ACA352156370SCN10Ac.3265G>T (p.Val1089Leu)
c.3262G>T (p.Val1088Leu)
c.3289G>T (p.Val1097Leu)
c.2971G>T (p.Val991Leu)
c.3274G>T (p.Val1092Leu)
c.3271G>T (p.Val1091Leu)
c.2980G>T (p.Val994Leu)
3g.38723517C>GCA352156372SCN10Ac.3265G>C (p.Val1089Leu)
c.3262G>C (p.Val1088Leu)
c.3289G>C (p.Val1097Leu)
c.2971G>C (p.Val991Leu)
c.3274G>C (p.Val1092Leu)
c.3271G>C (p.Val1091Leu)
c.2980G>C (p.Val994Leu)
3g.38723517C>TCA352156374SCN10Ac.3265G>A (p.Val1089Met)
c.3262G>A (p.Val1088Met)
c.3289G>A (p.Val1097Met)
c.2971G>A (p.Val991Met)
c.3274G>A (p.Val1092Met)
c.3271G>A (p.Val1091Met)
c.2980G>A (p.Val994Met)
 gnomAD v4
3g.38723518delCA542278815SCN10Ac.3265del (p.Val1089TrpfsTer4)
c.3262del (p.Val1088TrpfsTer4)
c.3289del (p.Val1097TrpfsTer4)
c.2971del (p.Val991TrpfsTer4)
c.3274del (p.Val1092TrpfsTer4)
c.3271del (p.Val1091TrpfsTer4)
c.2980del (p.Val994TrpfsTer4)
 dbSNP gnomAD v2 gnomAD v4
3g.38723518C>ACA433138230SCN10Ac.3264G>T (p.Thr1088=)
c.3261G>T (p.Thr1087=)
c.3288G>T (p.Thr1096=)
c.2970G>T (p.Thr990=)
c.3273G>T (p.Thr1091=)
c.3270G>T (p.Thr1090=)
c.2979G>T (p.Thr993=)
 gnomAD v4
3g.38723518C=CA1358639754SCN10Ac.3264G= (p.Thr1088=)
c.3261G= (p.Thr1087=)
c.3288G= (p.Thr1096=)
c.2970G= (p.Thr990=)
c.3273G= (p.Thr1091=)
c.3270G= (p.Thr1090=)
c.2979G= (p.Thr993=)
3g.38723518C>GCA433138231SCN10Ac.3264G>C (p.Thr1088=)
c.3261G>C (p.Thr1087=)
c.3288G>C (p.Thr1096=)
c.2970G>C (p.Thr990=)
c.3273G>C (p.Thr1091=)
c.3270G>C (p.Thr1090=)
c.2979G>C (p.Thr993=)
 dbSNP gnomAD v2 gnomAD v4
3g.38723518C>TCA2320285SCN10Ac.3264G>A (p.Thr1088=)
c.3261G>A (p.Thr1087=)
c.3288G>A (p.Thr1096=)
c.2970G>A (p.Thr990=)
c.3273G>A (p.Thr1091=)
c.3270G>A (p.Thr1090=)
c.2979G>A (p.Thr993=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38723519G>ACA72958561SCN10Ac.3263C>T (p.Thr1088Met)
c.3260C>T (p.Thr1087Met)
c.3287C>T (p.Thr1096Met)
c.2969C>T (p.Thr990Met)
c.3272C>T (p.Thr1091Met)
c.3269C>T (p.Thr1090Met)
c.2978C>T (p.Thr993Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38723519G>CCA352156378SCN10Ac.3263C>G (p.Thr1088Arg)
c.3260C>G (p.Thr1087Arg)
c.3287C>G (p.Thr1096Arg)
c.2969C>G (p.Thr990Arg)
c.3272C>G (p.Thr1091Arg)
c.3269C>G (p.Thr1090Arg)
c.2978C>G (p.Thr993Arg)
3g.38723519G=CA1358639755SCN10Ac.3263C= (p.Thr1088=)
c.3260C= (p.Thr1087=)
c.3287C= (p.Thr1096=)
c.2969C= (p.Thr990=)
c.3272C= (p.Thr1091=)
c.3269C= (p.Thr1090=)
c.2978C= (p.Thr993=)
3g.38723519G>TCA352156380SCN10Ac.3263C>A (p.Thr1088Lys)
c.3260C>A (p.Thr1087Lys)
c.3287C>A (p.Thr1096Lys)
c.2969C>A (p.Thr990Lys)
c.3272C>A (p.Thr1091Lys)
c.3269C>A (p.Thr1090Lys)
c.2978C>A (p.Thr993Lys)
 gnomAD v4
3g.38723519_38723521dupCA2577554042SCN10Ac.3261_3263dup (p.Thr1088_Val1089insThr)
c.3258_3260dup (p.Thr1087_Val1088insThr)
c.3285_3287dup (p.Thr1096_Val1097insThr)
c.2967_2969dup (p.Thr990_Val991insThr)
c.3270_3272dup (p.Thr1091_Val1092insThr)
c.3267_3269dup (p.Thr1090_Val1091insThr)
c.2976_2978dup (p.Thr993_Val994insThr)
3g.38723520T>ACA352156385SCN10Ac.3262A>T (p.Thr1088Ser)
c.3259A>T (p.Thr1087Ser)
c.3286A>T (p.Thr1096Ser)
c.2968A>T (p.Thr990Ser)
c.3271A>T (p.Thr1091Ser)
c.3268A>T (p.Thr1090Ser)
c.2977A>T (p.Thr993Ser)
3g.38723520T>CCA352156387SCN10Ac.3262A>G (p.Thr1088Ala)
c.3259A>G (p.Thr1087Ala)
c.3286A>G (p.Thr1096Ala)
c.2968A>G (p.Thr990Ala)
c.3271A>G (p.Thr1091Ala)
c.3268A>G (p.Thr1090Ala)
c.2977A>G (p.Thr993Ala)
3g.38723520T>GCA352156383SCN10Ac.3262A>C (p.Thr1088Pro)
c.3259A>C (p.Thr1087Pro)
c.3286A>C (p.Thr1096Pro)
c.2968A>C (p.Thr990Pro)
c.3271A>C (p.Thr1091Pro)
c.3268A>C (p.Thr1090Pro)
c.2977A>C (p.Thr993Pro)
3g.38723521G>ACA2320286SCN10Ac.3261C>T (p.Ser1087=)
c.3258C>T (p.Ser1086=)
c.3285C>T (p.Ser1095=)
c.2967C>T (p.Ser989=)
c.3270C>T (p.Ser1090=)
c.3267C>T (p.Ser1089=)
c.2976C>T (p.Ser992=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38723521G>CCA352156394SCN10Ac.3261C>G (p.Ser1087Arg)
c.3258C>G (p.Ser1086Arg)
c.3285C>G (p.Ser1095Arg)
c.2967C>G (p.Ser989Arg)
c.3270C>G (p.Ser1090Arg)
c.3267C>G (p.Ser1089Arg)
c.2976C>G (p.Ser992Arg)
3g.38723521G=CA1358639756SCN10Ac.3261C= (p.Ser1087=)
c.3258C= (p.Ser1086=)
c.3285C= (p.Ser1095=)
c.2967C= (p.Ser989=)
c.3270C= (p.Ser1090=)
c.3267C= (p.Ser1089=)
c.2976C= (p.Ser992=)
3g.38723521G>TCA352156390SCN10Ac.3261C>A (p.Ser1087Arg)
c.3258C>A (p.Ser1086Arg)
c.3285C>A (p.Ser1095Arg)
c.2967C>A (p.Ser989Arg)
c.3270C>A (p.Ser1090Arg)
c.3267C>A (p.Ser1089Arg)
c.2976C>A (p.Ser992Arg)
 gnomAD v4
3g.38723522C>ACA352156395SCN10Ac.3260G>T (p.Ser1087Ile)
c.3257G>T (p.Ser1086Ile)
c.3284G>T (p.Ser1095Ile)
c.2966G>T (p.Ser989Ile)
c.3269G>T (p.Ser1090Ile)
c.3266G>T (p.Ser1089Ile)
c.2975G>T (p.Ser992Ile)
3g.38723522C>GCA352156398SCN10Ac.3260G>C (p.Ser1087Thr)
c.3257G>C (p.Ser1086Thr)
c.3284G>C (p.Ser1095Thr)
c.2966G>C (p.Ser989Thr)
c.3269G>C (p.Ser1090Thr)
c.3266G>C (p.Ser1089Thr)
c.2975G>C (p.Ser992Thr)
3g.38723522C>TCA352156396SCN10Ac.3260G>A (p.Ser1087Asn)
c.3257G>A (p.Ser1086Asn)
c.3284G>A (p.Ser1095Asn)
c.2966G>A (p.Ser989Asn)
c.3269G>A (p.Ser1090Asn)
c.3266G>A (p.Ser1089Asn)
c.2975G>A (p.Ser992Asn)
3g.38723523T>ACA352156400SCN10Ac.3259A>T (p.Ser1087Cys)
c.3256A>T (p.Ser1086Cys)
c.3283A>T (p.Ser1095Cys)
c.2965A>T (p.Ser989Cys)
c.3268A>T (p.Ser1090Cys)
c.3265A>T (p.Ser1089Cys)
c.2974A>T (p.Ser992Cys)
3g.38723523T>CCA352156402SCN10Ac.3259A>G (p.Ser1087Gly)
c.3256A>G (p.Ser1086Gly)
c.3283A>G (p.Ser1095Gly)
c.2965A>G (p.Ser989Gly)
c.3268A>G (p.Ser1090Gly)
c.3265A>G (p.Ser1089Gly)
c.2974A>G (p.Ser992Gly)
3g.38723523T>GCA352156404SCN10Ac.3259A>C (p.Ser1087Arg)
c.3256A>C (p.Ser1086Arg)
c.3283A>C (p.Ser1095Arg)
c.2965A>C (p.Ser989Arg)
c.3268A>C (p.Ser1090Arg)
c.3265A>C (p.Ser1089Arg)
c.2974A>C (p.Ser992Arg)
3g.38723524G>ACA433138233SCN10Ac.3258C>T (p.Gly1086=)
c.3255C>T (p.Gly1085=)
c.3282C>T (p.Gly1094=)
c.2964C>T (p.Gly988=)
c.3267C>T (p.Gly1089=)
c.3264C>T (p.Gly1088=)
c.2973C>T (p.Gly991=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38723524G>CCA433138234SCN10Ac.3258C>G (p.Gly1086=)
c.3255C>G (p.Gly1085=)
c.3282C>G (p.Gly1094=)
c.2964C>G (p.Gly988=)
c.3267C>G (p.Gly1089=)
c.3264C>G (p.Gly1088=)
c.2973C>G (p.Gly991=)
3g.38723524G=CA1358639757SCN10Ac.3258C= (p.Gly1086=)
c.3255C= (p.Gly1085=)
c.3282C= (p.Gly1094=)
c.2964C= (p.Gly988=)
c.3267C= (p.Gly1089=)
c.3264C= (p.Gly1088=)
c.2973C= (p.Gly991=)
3g.38723524G>TCA433138235SCN10Ac.3258C>A (p.Gly1086=)
c.3255C>A (p.Gly1085=)
c.3282C>A (p.Gly1094=)
c.2964C>A (p.Gly988=)
c.3267C>A (p.Gly1089=)
c.3264C>A (p.Gly1088=)
c.2973C>A (p.Gly991=)
3g.38723525C>ACA352156406SCN10Ac.3257G>T (p.Gly1086Val)
c.3254G>T (p.Gly1085Val)
c.3281G>T (p.Gly1094Val)
c.2963G>T (p.Gly988Val)
c.3266G>T (p.Gly1089Val)
c.3263G>T (p.Gly1088Val)
c.2972G>T (p.Gly991Val)
3g.38723525C=CA1358639758SCN10Ac.3257G= (p.Gly1086=)
c.3254G= (p.Gly1085=)
c.3281G= (p.Gly1094=)
c.2963G= (p.Gly988=)
c.3266G= (p.Gly1089=)
c.3263G= (p.Gly1088=)
c.2972G= (p.Gly991=)
3g.38723525C>GCA352156408SCN10Ac.3257G>C (p.Gly1086Ala)
c.3254G>C (p.Gly1085Ala)
c.3281G>C (p.Gly1094Ala)
c.2963G>C (p.Gly988Ala)
c.3266G>C (p.Gly1089Ala)
c.3263G>C (p.Gly1088Ala)
c.2972G>C (p.Gly991Ala)
3g.38723525C>TCA352156410SCN10Ac.3257G>A (p.Gly1086Asp)
c.3254G>A (p.Gly1085Asp)
c.3281G>A (p.Gly1094Asp)
c.2963G>A (p.Gly988Asp)
c.3266G>A (p.Gly1089Asp)
c.3263G>A (p.Gly1088Asp)
c.2972G>A (p.Gly991Asp)
 dbSNP gnomAD v4
3g.38723526C>ACA352156412SCN10Ac.3256G>T (p.Gly1086Cys)
c.3253G>T (p.Gly1085Cys)
c.3280G>T (p.Gly1094Cys)
c.2962G>T (p.Gly988Cys)
c.3265G>T (p.Gly1089Cys)
c.3262G>T (p.Gly1088Cys)
c.2971G>T (p.Gly991Cys)
 ClinVar dbSNP COSMIC
3g.38723526C=CA1358639759SCN10Ac.3256G= (p.Gly1086=)
c.3253G= (p.Gly1085=)
c.3280G= (p.Gly1094=)
c.2962G= (p.Gly988=)
c.3265G= (p.Gly1089=)
c.3262G= (p.Gly1088=)
c.2971G= (p.Gly991=)
3g.38723526C>GCA352156414SCN10Ac.3256G>C (p.Gly1086Arg)
c.3253G>C (p.Gly1085Arg)
c.3280G>C (p.Gly1094Arg)
c.2962G>C (p.Gly988Arg)
c.3265G>C (p.Gly1089Arg)
c.3262G>C (p.Gly1088Arg)
c.2971G>C (p.Gly991Arg)
3g.38723526C>TCA2320287SCN10Ac.3256G>A (p.Gly1086Ser)
c.3253G>A (p.Gly1085Ser)
c.3280G>A (p.Gly1094Ser)
c.2962G>A (p.Gly988Ser)
c.3265G>A (p.Gly1089Ser)
c.3262G>A (p.Gly1088Ser)
c.2971G>A (p.Gly991Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38723527C>ACA352156416SCN10Ac.3255G>T (p.Glu1085Asp)
c.3252G>T (p.Glu1084Asp)
c.3279G>T (p.Glu1093Asp)
c.2961G>T (p.Glu987Asp)
c.3264G>T (p.Glu1088Asp)
c.3261G>T (p.Glu1087Asp)
c.2970G>T (p.Glu990Asp)
3g.38723527C=CA1358639760SCN10Ac.3255G= (p.Glu1085=)
c.3252G= (p.Glu1084=)
c.3279G= (p.Glu1093=)
c.2961G= (p.Glu987=)
c.3264G= (p.Glu1088=)
c.3261G= (p.Glu1087=)
c.2970G= (p.Glu990=)
3g.38723527C>GCA2320289SCN10Ac.3255G>C (p.Glu1085Asp)
c.3252G>C (p.Glu1084Asp)
c.3279G>C (p.Glu1093Asp)
c.2961G>C (p.Glu987Asp)
c.3264G>C (p.Glu1088Asp)
c.3261G>C (p.Glu1087Asp)
c.2970G>C (p.Glu990Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38723527C>TCA2320288SCN10Ac.3255G>A (p.Glu1085=)
c.3252G>A (p.Glu1084=)
c.3279G>A (p.Glu1093=)
c.2961G>A (p.Glu987=)
c.3264G>A (p.Glu1088=)
c.3261G>A (p.Glu1087=)
c.2970G>A (p.Glu990=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38723528T>ACA352156420SCN10Ac.3254A>T (p.Glu1085Val)
c.3251A>T (p.Glu1084Val)
c.3278A>T (p.Glu1093Val)
c.2960A>T (p.Glu987Val)
c.3263A>T (p.Glu1088Val)
c.3260A>T (p.Glu1087Val)
c.2969A>T (p.Glu990Val)
3g.38723528T>CCA352156423SCN10Ac.3254A>G (p.Glu1085Gly)
c.3251A>G (p.Glu1084Gly)
c.3278A>G (p.Glu1093Gly)
c.2960A>G (p.Glu987Gly)
c.3263A>G (p.Glu1088Gly)
c.3260A>G (p.Glu1087Gly)
c.2969A>G (p.Glu990Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.38723528T>GCA352156421SCN10Ac.3254A>C (p.Glu1085Ala)
c.3251A>C (p.Glu1084Ala)
c.3278A>C (p.Glu1093Ala)
c.2960A>C (p.Glu987Ala)
c.3263A>C (p.Glu1088Ala)
c.3260A>C (p.Glu1087Ala)
c.2969A>C (p.Glu990Ala)
3g.38723528T=CA1358639761SCN10Ac.3254A= (p.Glu1085=)
c.3251A= (p.Glu1084=)
c.3278A= (p.Glu1093=)
c.2960A= (p.Glu987=)
c.3263A= (p.Glu1088=)
c.3260A= (p.Glu1087=)
c.2969A= (p.Glu990=)
3g.38723529C>ACA352156425SCN10Ac.3253G>T (p.Glu1085Ter)
c.3250G>T (p.Glu1084Ter)
c.3277G>T (p.Glu1093Ter)
c.2959G>T (p.Glu987Ter)
c.3262G>T (p.Glu1088Ter)
c.3259G>T (p.Glu1087Ter)
c.2968G>T (p.Glu990Ter)
 gnomAD v4
3g.38723529C=CA1358639762SCN10Ac.3253G= (p.Glu1085=)
c.3250G= (p.Glu1084=)
c.3277G= (p.Glu1093=)
c.2959G= (p.Glu987=)
c.3262G= (p.Glu1088=)
c.3259G= (p.Glu1087=)
c.2968G= (p.Glu990=)
3g.38723529C>GCA352156427SCN10Ac.3253G>C (p.Glu1085Gln)
c.3250G>C (p.Glu1084Gln)
c.3277G>C (p.Glu1093Gln)
c.2959G>C (p.Glu987Gln)
c.3262G>C (p.Glu1088Gln)
c.3259G>C (p.Glu1087Gln)
c.2968G>C (p.Glu990Gln)
3g.38723529C>TCA2320290SCN10Ac.3253G>A (p.Glu1085Lys)
c.3250G>A (p.Glu1084Lys)
c.3277G>A (p.Glu1093Lys)
c.2959G>A (p.Glu987Lys)
c.3262G>A (p.Glu1088Lys)
c.3259G>A (p.Glu1087Lys)
c.2968G>A (p.Glu990Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38723530A>CCA433138244SCN10Ac.3252T>G (p.Ser1084=)
c.3249T>G (p.Ser1083=)
c.3276T>G (p.Ser1092=)
c.2958T>G (p.Ser986=)
c.3261T>G (p.Ser1087=)
c.3258T>G (p.Ser1086=)
c.2967T>G (p.Ser989=)
3g.38723530A>GCA433138245SCN10Ac.3252T>C (p.Ser1084=)
c.3249T>C (p.Ser1083=)
c.3276T>C (p.Ser1092=)
c.2958T>C (p.Ser986=)
c.3261T>C (p.Ser1087=)
c.3258T>C (p.Ser1086=)
c.2967T>C (p.Ser989=)
 gnomAD v4
3g.38723530A>TCA433138246SCN10Ac.3252T>A (p.Ser1084=)
c.3249T>A (p.Ser1083=)
c.3276T>A (p.Ser1092=)
c.2958T>A (p.Ser986=)
c.3261T>A (p.Ser1087=)
c.3258T>A (p.Ser1086=)
c.2967T>A (p.Ser989=)

Number of alleles fetched