Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
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)
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)

Number of alleles fetched