Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38723506_38723507delinsTA | CA1358639747 | SCN10A | c.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=) | |
3 | g.38723507del | CA906863819 | SCN10A | c.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 |
3 | g.38723507A= | CA1358639748 | SCN10A | c.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=) | |
3 | g.38723507A>C | CA352156328 | SCN10A | c.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) | |
3 | g.38723507A>G | CA2320282 | SCN10A | c.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 |
3 | g.38723507A>T | CA352156325 | SCN10A | c.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 |
3 | g.38723508G>A | CA433138214 | SCN10A | c.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=) | |
3 | g.38723508G>C | CA352156330 | SCN10A | c.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 |
3 | g.38723508G>T | CA352156332 | SCN10A | c.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) | |
3 | g.38723509G>A | CA433138217 | SCN10A | c.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 |
3 | g.38723509G>C | CA352156335 | SCN10A | c.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) | |
3 | g.38723509G= | CA1358639749 | SCN10A | c.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=) | |
3 | g.38723509G>T | CA352156336 | SCN10A | c.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) | |
3 | g.38723510C>A | CA352156339 | SCN10A | c.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) | |
3 | g.38723510C>G | CA352156340 | SCN10A | c.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) | |
3 | g.38723510C>T | CA352156342 | SCN10A | c.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) | |
3 | g.38723511A= | CA1358639750 | SCN10A | c.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=) | |
3 | g.38723511A>C | CA352156344 | SCN10A | c.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) | |
3 | g.38723511A>G | CA352156345 | SCN10A | c.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 |
3 | g.38723511A>T | CA352156347 | SCN10A | c.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) | |
3 | g.38723511_38723512insTGGTTTAAACTTCTTTATGTCAAG | CA2665104913 | SCN10A | c.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 |
3 | g.38723511_38723512insTGGTTTAAACTTCTTTATGTCAAGGTCTCCTCT | CA2665104915 | SCN10A | c.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 |
3 | g.38723512G>A | CA2320283 | SCN10A | c.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 |
3 | g.38723512G>C | CA352156350 | SCN10A | c.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) | |
3 | g.38723512G= | CA1358639751 | SCN10A | c.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=) | |
3 | g.38723512G>T | CA352156352 | SCN10A | c.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) | |
3 | g.38723513T>A | CA352156358 | SCN10A | c.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) | |
3 | g.38723513T>C | CA352156354 | SCN10A | c.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) | |
3 | g.38723513T>G | CA352156356 | SCN10A | c.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) | |
3 | g.38723514C>A | CA352156360 | SCN10A | c.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) | |
3 | g.38723514C>G | CA352156362 | SCN10A | c.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) | |
3 | g.38723514C>T | CA352156363 | SCN10A | c.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) | |
3 | g.38723515C>A | CA433138226 | SCN10A | c.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=) | |
3 | g.38723515C>G | CA433138227 | SCN10A | c.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=) | |
3 | g.38723515C>T | CA433138228 | SCN10A | c.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 |
3 | g.38723516A= | CA1358639752 | SCN10A | c.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=) | |
3 | g.38723516A>C | CA352156365 | SCN10A | c.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) | |
3 | g.38723516A>G | CA2320284 | SCN10A | c.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 |
3 | g.38723516A>T | CA352156368 | SCN10A | c.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) | |
3 | g.38723516_38723517delinsAC | CA1358639753 | SCN10A | c.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=) | |
3 | g.38723517C>A | CA352156370 | SCN10A | c.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) | |
3 | g.38723517C>G | CA352156372 | SCN10A | c.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) | |
3 | g.38723517C>T | CA352156374 | SCN10A | c.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 |
3 | g.38723518del | CA542278815 | SCN10A | c.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 |
3 | g.38723518C>A | CA433138230 | SCN10A | c.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 |
3 | g.38723518C= | CA1358639754 | SCN10A | c.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=) | |
3 | g.38723518C>G | CA433138231 | SCN10A | c.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 |
3 | g.38723518C>T | CA2320285 | SCN10A | c.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 |
3 | g.38723519G>A | CA72958561 | SCN10A | c.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 |
3 | g.38723519G>C | CA352156378 | SCN10A | c.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) |