Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166272753T>A | CA429978039 | SCN1A-AS1,SCN9A | c.2997A>T (p.Ile999=) c.2964A>T (p.Ile988=) c.1877-255A>T n.870-4335T>A c.2610A>T (p.Ile870=) c.2253A>T (p.Ile751=) | |
2 | g.166272753T>C | CA349074531 | SCN1A-AS1,SCN9A | c.2997A>G (p.Ile999Met) c.2964A>G (p.Ile988Met) c.1877-255A>G n.870-4335T>C c.2610A>G (p.Ile870Met) c.2253A>G (p.Ile751Met) | |
2 | g.166272753T>G | CA429978040 | SCN1A-AS1,SCN9A | c.2997A>C (p.Ile999=) c.2964A>C (p.Ile988=) c.1877-255A>C n.870-4335T>G c.2610A>C (p.Ile870=) c.2253A>C (p.Ile751=) | |
2 | g.166272754A>C | CA349074534 | SCN1A-AS1,SCN9A | c.2996T>G (p.Ile999Arg) c.2963T>G (p.Ile988Arg) c.1877-256T>G n.870-4334A>C c.2609T>G (p.Ile870Arg) c.2252T>G (p.Ile751Arg) | |
2 | g.166272754A>G | CA349074536 | SCN1A-AS1,SCN9A | c.2996T>C (p.Ile999Thr) c.2963T>C (p.Ile988Thr) c.1877-256T>C n.870-4334A>G c.2609T>C (p.Ile870Thr) c.2252T>C (p.Ile751Thr) | ClinVar dbSNP |
2 | g.166272754A>T | CA349074537 | SCN1A-AS1,SCN9A | c.2996T>A (p.Ile999Lys) c.2963T>A (p.Ile988Lys) c.1877-256T>A n.870-4334A>T c.2609T>A (p.Ile870Lys) c.2252T>A (p.Ile751Lys) | |
2 | g.166272755T>A | CA349074540 | SCN1A-AS1,SCN9A | c.2995A>T (p.Ile999Leu) c.2962A>T (p.Ile988Leu) c.1877-257A>T n.870-4333T>A c.2608A>T (p.Ile870Leu) c.2251A>T (p.Ile751Leu) | |
2 | g.166272755T>C | CA349074542 | SCN1A-AS1,SCN9A | c.2995A>G (p.Ile999Val) c.2962A>G (p.Ile988Val) c.1877-257A>G n.870-4333T>C c.2608A>G (p.Ile870Val) c.2251A>G (p.Ile751Val) | ClinVar dbSNP |
2 | g.166272755T>G | CA349074543 | SCN1A-AS1,SCN9A | c.2995A>C (p.Ile999Leu) c.2962A>C (p.Ile988Leu) c.1877-257A>C n.870-4333T>G c.2608A>C (p.Ile870Leu) c.2251A>C (p.Ile751Leu) | |
2 | g.166272756T>A | CA429978043 | SCN1A-AS1,SCN9A | c.2994A>T (p.Gly998=) c.2961A>T (p.Gly987=) c.1877-258A>T n.870-4332T>A c.2607A>T (p.Gly869=) c.2250A>T (p.Gly750=) | |
2 | g.166272756T>C | CA429978044 | SCN1A-AS1,SCN9A | c.2994A>G (p.Gly998=) c.2961A>G (p.Gly987=) c.1877-258A>G n.870-4332T>C c.2607A>G (p.Gly869=) c.2250A>G (p.Gly750=) | |
2 | g.166272756T>G | CA429978046 | SCN1A-AS1,SCN9A | c.2994A>C (p.Gly998=) c.2961A>C (p.Gly987=) c.1877-258A>C n.870-4332T>G c.2607A>C (p.Gly869=) c.2250A>C (p.Gly750=) | ClinVar dbSNP |
2 | g.166272756T= | CA1304962854 | SCN1A-AS1,SCN9A | c.2994A= (p.Gly998=) c.2961A= (p.Gly987=) c.1877-258A= n.870-4332T= c.2607A= (p.Gly869=) c.2250A= (p.Gly750=) | |
2 | g.166272756_166272757delinsTC | CA1304962855 | SCN1A-AS1,SCN9A | c.2993_2994delinsGA (p.Gly998=) c.2960_2961delinsGA (p.Gly987=) c.1877-259_1877-258delinsGA n.870-4332_870-4331delinsTC c.2606_2607delinsGA (p.Gly869=) c.2249_2250delinsGA (p.Gly750=) | |
2 | g.166272757C>A | CA349074546 | SCN1A-AS1,SCN9A | c.2993G>T (p.Gly998Val) c.2960G>T (p.Gly987Val) c.1877-259G>T n.870-4331C>A c.2606G>T (p.Gly869Val) c.2249G>T (p.Gly750Val) | |
2 | g.166272757C>G | CA349074548 | SCN1A-AS1,SCN9A | c.2993G>C (p.Gly998Ala) c.2960G>C (p.Gly987Ala) c.1877-259G>C n.870-4331C>G c.2606G>C (p.Gly869Ala) c.2249G>C (p.Gly750Ala) | |
2 | g.166272757C>T | CA349074549 | SCN1A-AS1,SCN9A | c.2993G>A (p.Gly998Glu) c.2960G>A (p.Gly987Glu) c.1877-259G>A n.870-4331C>T c.2606G>A (p.Gly869Glu) c.2249G>A (p.Gly750Glu) | COSMIC COSMIC |
2 | g.166272759del | CA1304962856 | SCN1A-AS1,SCN9A | c.2993del (p.Gly998GlufsTer2) c.2960del (p.Gly987GlufsTer2) c.1877-259del n.870-4329del c.2606del (p.Gly869GlufsTer2) c.2249del (p.Gly750GlufsTer2) | dbSNP gnomAD v4 |
2 | g.166272758C>A | CA349074553 | SCN1A-AS1,SCN9A | c.2992G>T (p.Gly998Ter) c.2959G>T (p.Gly987Ter) c.1877-260G>T n.870-4330C>A c.2605G>T (p.Gly869Ter) c.2248G>T (p.Gly750Ter) | dbSNP gnomAD v4 |
2 | g.166272758C= | CA1304962857 | SCN1A-AS1,SCN9A | c.2992G= (p.Gly998=) c.2959G= (p.Gly987=) c.1877-260G= n.870-4330C= c.2605G= (p.Gly869=) c.2248G= (p.Gly750=) | |
2 | g.166272758C>G | CA349074554 | SCN1A-AS1,SCN9A | c.2992G>C (p.Gly998Arg) c.2959G>C (p.Gly987Arg) c.1877-260G>C n.870-4330C>G c.2605G>C (p.Gly869Arg) c.2248G>C (p.Gly750Arg) | |
2 | g.166272758C>T | CA349074551 | SCN1A-AS1,SCN9A | c.2992G>A (p.Gly998Arg) c.2959G>A (p.Gly987Arg) c.1877-260G>A n.870-4330C>T c.2605G>A (p.Gly869Arg) c.2248G>A (p.Gly750Arg) | gnomAD v4 COSMIC COSMIC |
2 | g.166272759C>A | CA1944158 | SCN1A-AS1,SCN9A | c.2991G>T (p.Lys997Asn) c.2958G>T (p.Lys986Asn) c.1877-261G>T n.870-4329C>A c.2604G>T (p.Lys868Asn) c.2247G>T (p.Lys749Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272759C= | CA1304962858 | SCN1A-AS1,SCN9A | c.2991G= (p.Lys997=) c.2958G= (p.Lys986=) c.1877-261G= n.870-4329C= c.2604G= (p.Lys868=) c.2247G= (p.Lys749=) | |
2 | g.166272759C>G | CA349074557 | SCN1A-AS1,SCN9A | c.2991G>C (p.Lys997Asn) c.2958G>C (p.Lys986Asn) c.1877-261G>C n.870-4329C>G c.2604G>C (p.Lys868Asn) c.2247G>C (p.Lys749Asn) | ClinVar |
2 | g.166272759C>T | CA429978049 | SCN1A-AS1,SCN9A | c.2991G>A (p.Lys997=) c.2958G>A (p.Lys986=) c.1877-261G>A n.870-4329C>T c.2604G>A (p.Lys868=) c.2247G>A (p.Lys749=) | gnomAD v4 |
2 | g.166272760T>A | CA349074559 | SCN1A-AS1,SCN9A | c.2990A>T (p.Lys997Met) c.2957A>T (p.Lys986Met) c.1877-262A>T n.870-4328T>A c.2603A>T (p.Lys868Met) c.2246A>T (p.Lys749Met) | |
2 | g.166272760T>C | CA349074560 | SCN1A-AS1,SCN9A | c.2990A>G (p.Lys997Arg) c.2957A>G (p.Lys986Arg) c.1877-262A>G n.870-4328T>C c.2603A>G (p.Lys868Arg) c.2246A>G (p.Lys749Arg) | |
2 | g.166272760T>G | CA349074561 | SCN1A-AS1,SCN9A | c.2990A>C (p.Lys997Thr) c.2957A>C (p.Lys986Thr) c.1877-262A>C n.870-4328T>G c.2603A>C (p.Lys868Thr) c.2246A>C (p.Lys749Thr) | |
2 | g.166272764del | CA2661766691 | SCN1A-AS1,SCN9A | c.2990del (p.Lys997ArgfsTer3) c.2957del (p.Lys986ArgfsTer3) c.1877-262del n.870-4324del c.2603del (p.Lys868ArgfsTer3) c.2246del (p.Lys749ArgfsTer3) | gnomAD v4 |
2 | g.166272761T>A | CA349074563 | SCN1A-AS1,SCN9A | c.2989A>T (p.Lys997Ter) c.2956A>T (p.Lys986Ter) c.1877-263A>T n.870-4327T>A c.2602A>T (p.Lys868Ter) c.2245A>T (p.Lys749Ter) | dbSNP |
2 | g.166272761T>C | CA349074564 | SCN1A-AS1,SCN9A | c.2989A>G (p.Lys997Glu) c.2956A>G (p.Lys986Glu) c.1877-263A>G n.870-4327T>C c.2602A>G (p.Lys868Glu) c.2245A>G (p.Lys749Glu) | |
2 | g.166272761T>G | CA349074566 | SCN1A-AS1,SCN9A | c.2989A>C (p.Lys997Gln) c.2956A>C (p.Lys986Gln) c.1877-263A>C n.870-4327T>G c.2602A>C (p.Lys868Gln) c.2245A>C (p.Lys749Gln) | |
2 | g.166272761T= | CA1304962859 | SCN1A-AS1,SCN9A | c.2989A= (p.Lys997=) c.2956A= (p.Lys986=) c.1877-263A= n.870-4327T= c.2602A= (p.Lys868=) c.2245A= (p.Lys749=) | |
2 | g.166272762T>A | CA349074570 | SCN1A-AS1,SCN9A | c.2988A>T (p.Lys996Asn) c.2955A>T (p.Lys985Asn) c.1877-264A>T n.870-4326T>A c.2601A>T (p.Lys867Asn) c.2244A>T (p.Lys748Asn) | |
2 | g.166272762T>C | CA429978050 | SCN1A-AS1,SCN9A | c.2988A>G (p.Lys996=) c.2955A>G (p.Lys985=) c.1877-264A>G n.870-4326T>C c.2601A>G (p.Lys867=) c.2244A>G (p.Lys748=) | |
2 | g.166272762T>G | CA349074572 | SCN1A-AS1,SCN9A | c.2988A>C (p.Lys996Asn) c.2955A>C (p.Lys985Asn) c.1877-264A>C n.870-4326T>G c.2601A>C (p.Lys867Asn) c.2244A>C (p.Lys748Asn) | |
2 | g.166272763T>A | CA349074574 | SCN1A-AS1,SCN9A | c.2987A>T (p.Lys996Ile) c.2954A>T (p.Lys985Ile) c.1877-265A>T n.870-4325T>A c.2600A>T (p.Lys867Ile) c.2243A>T (p.Lys748Ile) | |
2 | g.166272763T>C | CA349074576 | SCN1A-AS1,SCN9A | c.2987A>G (p.Lys996Arg) c.2954A>G (p.Lys985Arg) c.1877-265A>G n.870-4325T>C c.2600A>G (p.Lys867Arg) c.2243A>G (p.Lys748Arg) | |
2 | g.166272763T>G | CA349074578 | SCN1A-AS1,SCN9A | c.2987A>C (p.Lys996Thr) c.2954A>C (p.Lys985Thr) c.1877-265A>C n.870-4325T>G c.2600A>C (p.Lys867Thr) c.2243A>C (p.Lys748Thr) | |
2 | g.166272763T= | CA1304962860 | SCN1A-AS1,SCN9A | c.2987A= (p.Lys996=) c.2954A= (p.Lys985=) c.1877-265A= n.870-4325T= c.2600A= (p.Lys867=) c.2243A= (p.Lys748=) | |
2 | g.166272763_166272764insC | CA59791796 | SCN1A-AS1,SCN9A | c.2986_2987insG (p.Lys996ArgfsTer13) c.2953_2954insG (p.Lys985ArgfsTer13) c.1877-266_1877-265insG n.870-4325_870-4324insC c.2599_2600insG (p.Lys867ArgfsTer13) c.2242_2243insG (p.Lys748ArgfsTer13) | dbSNP |
2 | g.166272764T>A | CA349074582 | SCN1A-AS1,SCN9A | c.2986A>T (p.Lys996Ter) c.2953A>T (p.Lys985Ter) c.1877-266A>T n.870-4324T>A c.2599A>T (p.Lys867Ter) c.2242A>T (p.Lys748Ter) | dbSNP |
2 | g.166272764T>C | CA349074584 | SCN1A-AS1,SCN9A | c.2986A>G (p.Lys996Glu) c.2953A>G (p.Lys985Glu) c.1877-266A>G n.870-4324T>C c.2599A>G (p.Lys867Glu) c.2242A>G (p.Lys748Glu) | |
2 | g.166272764T>G | CA349074581 | SCN1A-AS1,SCN9A | c.2986A>C (p.Lys996Gln) c.2953A>C (p.Lys985Gln) c.1877-266A>C n.870-4324T>G c.2599A>C (p.Lys867Gln) c.2242A>C (p.Lys748Gln) | |
2 | g.166272764T= | CA1304962861 | SCN1A-AS1,SCN9A | c.2986A= (p.Lys996=) c.2953A= (p.Lys985=) c.1877-266A= n.870-4324T= c.2599A= (p.Lys867=) c.2242A= (p.Lys748=) | |
2 | g.166272765A>C | CA349074588 | SCN1A-AS1,SCN9A | c.2985T>G (p.Ile995Met) c.2952T>G (p.Ile984Met) c.1877-267T>G n.870-4323A>C c.2598T>G (p.Ile866Met) c.2241T>G (p.Ile747Met) | |
2 | g.166272765A>G | CA429978052 | SCN1A-AS1,SCN9A | c.2985T>C (p.Ile995=) c.2952T>C (p.Ile984=) c.1877-267T>C n.870-4323A>G c.2598T>C (p.Ile866=) c.2241T>C (p.Ile747=) | |
2 | g.166272765A>T | CA429978053 | SCN1A-AS1,SCN9A | c.2985T>A (p.Ile995=) c.2952T>A (p.Ile984=) c.1877-267T>A n.870-4323A>T c.2598T>A (p.Ile866=) c.2241T>A (p.Ile747=) | |
2 | g.166272765_166272766delinsAA | CA1304962862 | SCN1A-AS1,SCN9A | c.2984_2985delinsTT (p.Ile995=) c.2951_2952delinsTT (p.Ile984=) c.1877-268_1877-267delinsTT n.870-4323_870-4322delinsAA c.2597_2598delinsTT (p.Ile866=) c.2240_2241delinsTT (p.Ile747=) | |
2 | g.166272765_166272766insG | CA2499215220 | SCN1A-AS1,SCN9A | c.2984_2985insC (p.Lys996Ter) c.2951_2952insC (p.Lys985Ter) c.1877-268_1877-267insC n.870-4323_870-4322insG c.2597_2598insC (p.Lys867Ter) c.2240_2241insC (p.Lys748Ter) | ClinVar dbSNP |
2 | g.166272766A>C | CA349074590 | SCN1A-AS1,SCN9A | c.2984T>G (p.Ile995Ser) c.2951T>G (p.Ile984Ser) c.1877-268T>G n.870-4322A>C c.2597T>G (p.Ile866Ser) c.2240T>G (p.Ile747Ser) | |
2 | g.166272766A>G | CA349074592 | SCN1A-AS1,SCN9A | c.2984T>C (p.Ile995Thr) c.2951T>C (p.Ile984Thr) c.1877-268T>C n.870-4322A>G c.2597T>C (p.Ile866Thr) c.2240T>C (p.Ile747Thr) | |
2 | g.166272766A>T | CA349074594 | SCN1A-AS1,SCN9A | c.2984T>A (p.Ile995Asn) c.2951T>A (p.Ile984Asn) c.1877-268T>A n.870-4322A>T c.2597T>A (p.Ile866Asn) c.2240T>A (p.Ile747Asn) | |
2 | g.166272766delinsGG | CA915942953 | SCN1A-AS1,SCN9A | c.2984delinsCC (p.Ile995ThrfsTer2) c.2951delinsCC (p.Ile984ThrfsTer2) c.1877-268delinsCC n.870-4322delinsGG c.2597delinsCC (p.Ile866ThrfsTer2) c.2240delinsCC (p.Ile747ThrfsTer2) | ClinVar dbSNP |
2 | g.166272767T>A | CA349074597 | SCN1A-AS1,SCN9A | c.2983A>T (p.Ile995Phe) c.2950A>T (p.Ile984Phe) c.1877-269A>T n.870-4321T>A c.2596A>T (p.Ile866Phe) c.2239A>T (p.Ile747Phe) | |
2 | g.166272767T>C | CA349074598 | SCN1A-AS1,SCN9A | c.2983A>G (p.Ile995Val) c.2950A>G (p.Ile984Val) c.1877-269A>G n.870-4321T>C c.2596A>G (p.Ile866Val) c.2239A>G (p.Ile747Val) | |
2 | g.166272767T>G | CA349074600 | SCN1A-AS1,SCN9A | c.2983A>C (p.Ile995Leu) c.2950A>C (p.Ile984Leu) c.1877-269A>C n.870-4321T>G c.2596A>C (p.Ile866Leu) c.2239A>C (p.Ile747Leu) | |
2 | g.166272768T>A | CA349074602 | SCN1A-AS1,SCN9A | c.2982A>T (p.Arg994Ser) c.2949A>T (p.Arg983Ser) c.1877-270A>T n.870-4320T>A c.2595A>T (p.Arg865Ser) c.2238A>T (p.Arg746Ser) | |
2 | g.166272768T>C | CA429978054 | SCN1A-AS1,SCN9A | c.2982A>G (p.Arg994=) c.2949A>G (p.Arg983=) c.1877-270A>G n.870-4320T>C c.2595A>G (p.Arg865=) c.2238A>G (p.Arg746=) | COSMIC COSMIC |
2 | g.166272768T>G | CA349074604 | SCN1A-AS1,SCN9A | c.2982A>C (p.Arg994Ser) c.2949A>C (p.Arg983Ser) c.1877-270A>C n.870-4320T>G c.2595A>C (p.Arg865Ser) c.2238A>C (p.Arg746Ser) | |
2 | g.166272769C>A | CA349074607 | SCN1A-AS1,SCN9A | c.2981G>T (p.Arg994Ile) c.2948G>T (p.Arg983Ile) c.1877-271G>T n.870-4319C>A c.2594G>T (p.Arg865Ile) c.2237G>T (p.Arg746Ile) | gnomAD v4 |
2 | g.166272769C>G | CA349074609 | SCN1A-AS1,SCN9A | c.2981G>C (p.Arg994Thr) c.2948G>C (p.Arg983Thr) c.1877-271G>C n.870-4319C>G c.2594G>C (p.Arg865Thr) c.2237G>C (p.Arg746Thr) | gnomAD v4 |
2 | g.166272769C>T | CA349074610 | SCN1A-AS1,SCN9A | c.2981G>A (p.Arg994Lys) c.2948G>A (p.Arg983Lys) c.1877-271G>A n.870-4319C>T c.2594G>A (p.Arg865Lys) c.2237G>A (p.Arg746Lys) | gnomAD v4 |
2 | g.166272770T>A | CA349074615 | SCN1A-AS1,SCN9A | c.2980A>T (p.Arg994Ter) c.2947A>T (p.Arg983Ter) c.1877-272A>T n.870-4318T>A c.2593A>T (p.Arg865Ter) c.2236A>T (p.Arg746Ter) | dbSNP |
2 | g.166272770T>C | CA349074613 | SCN1A-AS1,SCN9A | c.2980A>G (p.Arg994Gly) c.2947A>G (p.Arg983Gly) c.1877-272A>G n.870-4318T>C c.2593A>G (p.Arg865Gly) c.2236A>G (p.Arg746Gly) | COSMIC COSMIC |
2 | g.166272770T>G | CA429978055 | SCN1A-AS1,SCN9A | c.2980A>C (p.Arg994=) c.2947A>C (p.Arg983=) c.1877-272A>C n.870-4318T>G c.2593A>C (p.Arg865=) c.2236A>C (p.Arg746=) | |
2 | g.166272770T= | CA1304962863 | SCN1A-AS1,SCN9A | c.2980A= (p.Arg994=) c.2947A= (p.Arg983=) c.1877-272A= n.870-4318T= c.2593A= (p.Arg865=) c.2236A= (p.Arg746=) | |
2 | g.166272771A>C | CA429978060 | SCN1A-AS1,SCN9A | c.2979T>G (p.Thr993=) c.2946T>G (p.Thr982=) c.1877-273T>G n.870-4317A>C c.2592T>G (p.Thr864=) c.2235T>G (p.Thr745=) | |
2 | g.166272771A>G | CA429978062 | SCN1A-AS1,SCN9A | c.2979T>C (p.Thr993=) c.2946T>C (p.Thr982=) c.1877-273T>C n.870-4317A>G c.2592T>C (p.Thr864=) c.2235T>C (p.Thr745=) | |
2 | g.166272771A>T | CA429978064 | SCN1A-AS1,SCN9A | c.2979T>A (p.Thr993=) c.2946T>A (p.Thr982=) c.1877-273T>A n.870-4317A>T c.2592T>A (p.Thr864=) c.2235T>A (p.Thr745=) | |
2 | g.166272772G>A | CA349074618 | SCN1A-AS1,SCN9A | c.2978C>T (p.Thr993Ile) c.2945C>T (p.Thr982Ile) c.1877-274C>T n.870-4316G>A c.2591C>T (p.Thr864Ile) c.2234C>T (p.Thr745Ile) | |
2 | g.166272772G>C | CA349074619 | SCN1A-AS1,SCN9A | c.2978C>G (p.Thr993Ser) c.2945C>G (p.Thr982Ser) c.1877-274C>G n.870-4316G>C c.2591C>G (p.Thr864Ser) c.2234C>G (p.Thr745Ser) | |
2 | g.166272772G>T | CA349074621 | SCN1A-AS1,SCN9A | c.2978C>A (p.Thr993Asn) c.2945C>A (p.Thr982Asn) c.1877-274C>A n.870-4316G>T c.2591C>A (p.Thr864Asn) c.2234C>A (p.Thr745Asn) | |
2 | g.166272773T>A | CA349074623 | SCN1A-AS1,SCN9A | c.2977A>T (p.Thr993Ser) c.2944A>T (p.Thr982Ser) c.1877-275A>T n.870-4315T>A c.2590A>T (p.Thr864Ser) c.2233A>T (p.Thr745Ser) | |
2 | g.166272773T>C | CA349074625 | SCN1A-AS1,SCN9A | c.2977A>G (p.Thr993Ala) c.2944A>G (p.Thr982Ala) c.1877-275A>G n.870-4315T>C c.2590A>G (p.Thr864Ala) c.2233A>G (p.Thr745Ala) | |
2 | g.166272773T>G | CA349074627 | SCN1A-AS1,SCN9A | c.2977A>C (p.Thr993Pro) c.2944A>C (p.Thr982Pro) c.1877-275A>C n.870-4315T>G c.2590A>C (p.Thr864Pro) c.2233A>C (p.Thr745Pro) | gnomAD v4 |
2 | g.166272774C>A | CA429978066 | SCN1A-AS1,SCN9A | c.2976G>T (p.Val992=) c.2943G>T (p.Val981=) c.1877-276G>T n.870-4314C>A c.2589G>T (p.Val863=) c.2232G>T (p.Val744=) | |
2 | g.166272774C= | CA1304962864 | SCN1A-AS1,SCN9A | c.2976G= (p.Val992=) c.2943G= (p.Val981=) c.1877-276G= n.870-4314C= c.2589G= (p.Val863=) c.2232G= (p.Val744=) | |
2 | g.166272774C>G | CA429978068 | SCN1A-AS1,SCN9A | c.2976G>C (p.Val992=) c.2943G>C (p.Val981=) c.1877-276G>C n.870-4314C>G c.2589G>C (p.Val863=) c.2232G>C (p.Val744=) | |
2 | g.166272774C>T | CA429978071 | SCN1A-AS1,SCN9A | c.2976G>A (p.Val992=) c.2943G>A (p.Val981=) c.1877-276G>A n.870-4314C>T c.2589G>A (p.Val863=) c.2232G>A (p.Val744=) | dbSNP |
2 | g.166272775A= | CA1304962865 | SCN1A-AS1,SCN9A | c.2975T= (p.Val992=) c.2942T= (p.Val981=) c.1877-277T= n.870-4313A= c.2588T= (p.Val863=) c.2231T= (p.Val744=) | |
2 | g.166272775A>C | CA349074632 | SCN1A-AS1,SCN9A | c.2975T>G (p.Val992Gly) c.2942T>G (p.Val981Gly) c.1877-277T>G n.870-4313A>C c.2588T>G (p.Val863Gly) c.2231T>G (p.Val744Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.166272775A>G | CA16603954 | SCN1A-AS1,SCN9A | c.2975T>C (p.Val992Ala) c.2942T>C (p.Val981Ala) c.1877-277T>C n.870-4313A>G c.2588T>C (p.Val863Ala) c.2231T>C (p.Val744Ala) | ClinVar dbSNP |
2 | g.166272775A>T | CA349074629 | SCN1A-AS1,SCN9A | c.2975T>A (p.Val992Glu) c.2942T>A (p.Val981Glu) c.1877-277T>A n.870-4313A>T c.2588T>A (p.Val863Glu) c.2231T>A (p.Val744Glu) | gnomAD v4 |
2 | g.166272776C>A | CA349074633 | SCN1A-AS1,SCN9A | c.2974G>T (p.Val992Leu) c.2941G>T (p.Val981Leu) c.1877-278G>T n.870-4312C>A c.2587G>T (p.Val863Leu) c.2230G>T (p.Val744Leu) | gnomAD v4 |
2 | g.166272776C>G | CA349074635 | SCN1A-AS1,SCN9A | c.2974G>C (p.Val992Leu) c.2941G>C (p.Val981Leu) c.1877-278G>C n.870-4312C>G c.2587G>C (p.Val863Leu) c.2230G>C (p.Val744Leu) | |
2 | g.166272776C>T | CA349074636 | SCN1A-AS1,SCN9A | c.2974G>A (p.Val992Met) c.2941G>A (p.Val981Met) c.1877-278G>A n.870-4312C>T c.2587G>A (p.Val863Met) c.2230G>A (p.Val744Met) | gnomAD v4 |
2 | g.166272777T>A | CA429978075 | SCN1A-AS1,SCN9A | c.2973A>T (p.Ala991=) c.2940A>T (p.Ala980=) c.1877-279A>T n.870-4311T>A c.2586A>T (p.Ala862=) c.2229A>T (p.Ala743=) | |
2 | g.166272777T>C | CA429978076 | SCN1A-AS1,SCN9A | c.2973A>G (p.Ala991=) c.2940A>G (p.Ala980=) c.1877-279A>G n.870-4311T>C c.2586A>G (p.Ala862=) c.2229A>G (p.Ala743=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272777T>G | CA429978077 | SCN1A-AS1,SCN9A | c.2973A>C (p.Ala991=) c.2940A>C (p.Ala980=) c.1877-279A>C n.870-4311T>G c.2586A>C (p.Ala862=) c.2229A>C (p.Ala743=) | |
2 | g.166272777T= | CA1304962866 | SCN1A-AS1,SCN9A | c.2973A= (p.Ala991=) c.2940A= (p.Ala980=) c.1877-279A= n.870-4311T= c.2586A= (p.Ala862=) c.2229A= (p.Ala743=) | |
2 | g.166272778G>A | CA349074637 | SCN1A-AS1,SCN9A | c.2972C>T (p.Ala991Val) c.2939C>T (p.Ala980Val) c.1877-280C>T n.870-4310G>A c.2585C>T (p.Ala862Val) c.2228C>T (p.Ala743Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272778G>C | CA349074638 | SCN1A-AS1,SCN9A | c.2972C>G (p.Ala991Gly) c.2939C>G (p.Ala980Gly) c.1877-280C>G n.870-4310G>C c.2585C>G (p.Ala862Gly) c.2228C>G (p.Ala743Gly) | |
2 | g.166272778G= | CA1304962867 | SCN1A-AS1,SCN9A | c.2972C= (p.Ala991=) c.2939C= (p.Ala980=) c.1877-280C= n.870-4310G= c.2585C= (p.Ala862=) c.2228C= (p.Ala743=) | |
2 | g.166272778G>T | CA349074640 | SCN1A-AS1,SCN9A | c.2972C>A (p.Ala991Glu) c.2939C>A (p.Ala980Glu) c.1877-280C>A n.870-4310G>T c.2585C>A (p.Ala862Glu) c.2228C>A (p.Ala743Glu) | |
2 | g.166272779C>A | CA349074642 | SCN1A-AS1,SCN9A | c.2971G>T (p.Ala991Ser) c.2938G>T (p.Ala980Ser) c.1877-281G>T n.870-4309C>A c.2584G>T (p.Ala862Ser) c.2227G>T (p.Ala743Ser) | gnomAD v4 |
2 | g.166272779C>G | CA349074646 | SCN1A-AS1,SCN9A | c.2971G>C (p.Ala991Pro) c.2938G>C (p.Ala980Pro) c.1877-281G>C n.870-4309C>G c.2584G>C (p.Ala862Pro) c.2227G>C (p.Ala743Pro) | |
2 | g.166272779C>T | CA349074644 | SCN1A-AS1,SCN9A | c.2971G>A (p.Ala991Thr) c.2938G>A (p.Ala980Thr) c.1877-281G>A n.870-4309C>T c.2584G>A (p.Ala862Thr) c.2227G>A (p.Ala743Thr) | |
2 | g.166272780A>C | CA349074648 | SCN1A-AS1,SCN9A | c.2970T>G (p.Ile990Met) c.2937T>G (p.Ile979Met) c.1877-282T>G n.870-4308A>C c.2583T>G (p.Ile861Met) c.2226T>G (p.Ile742Met) | |
2 | g.166272780A>G | CA429978082 | SCN1A-AS1,SCN9A | c.2970T>C (p.Ile990=) c.2937T>C (p.Ile979=) c.1877-282T>C n.870-4308A>G c.2583T>C (p.Ile861=) c.2226T>C (p.Ile742=) | gnomAD v4 |
2 | g.166272780A>T | CA429978083 | SCN1A-AS1,SCN9A | c.2970T>A (p.Ile990=) c.2937T>A (p.Ile979=) c.1877-282T>A n.870-4308A>T c.2583T>A (p.Ile861=) c.2226T>A (p.Ile742=) | gnomAD v4 |
2 | g.166272781del | CA2586970692 | SCN1A-AS1,SCN9A | c.2970del (p.Ile990MetfsTer3) c.2937del (p.Ile979MetfsTer3) c.1877-282del n.870-4307del c.2583del (p.Ile861MetfsTer3) c.2226del (p.Ile742MetfsTer3) | gnomAD v4 |
2 | g.166272781A>C | CA349074650 | SCN1A-AS1,SCN9A | c.2969T>G (p.Ile990Ser) c.2936T>G (p.Ile979Ser) c.1877-283T>G n.870-4307A>C c.2582T>G (p.Ile861Ser) c.2225T>G (p.Ile742Ser) | |
2 | g.166272781A>G | CA349074652 | SCN1A-AS1,SCN9A | c.2969T>C (p.Ile990Thr) c.2936T>C (p.Ile979Thr) c.1877-283T>C n.870-4307A>G c.2582T>C (p.Ile861Thr) c.2225T>C (p.Ile742Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.166272781A>T | CA349074653 | SCN1A-AS1,SCN9A | c.2969T>A (p.Ile990Asn) c.2936T>A (p.Ile979Asn) c.1877-283T>A n.870-4307A>T c.2582T>A (p.Ile861Asn) c.2225T>A (p.Ile742Asn) | ClinVar |
2 | g.166272782T>A | CA349074655 | SCN1A-AS1,SCN9A | c.2968A>T (p.Ile990Phe) c.2935A>T (p.Ile979Phe) c.1877-284A>T n.870-4306T>A c.2581A>T (p.Ile861Phe) c.2224A>T (p.Ile742Phe) | |
2 | g.166272782T>C | CA349074657 | SCN1A-AS1,SCN9A | c.2968A>G (p.Ile990Val) c.2935A>G (p.Ile979Val) c.1877-284A>G n.870-4306T>C c.2581A>G (p.Ile861Val) c.2224A>G (p.Ile742Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272782T>G | CA349074658 | SCN1A-AS1,SCN9A | c.2968A>C (p.Ile990Leu) c.2935A>C (p.Ile979Leu) c.1877-284A>C n.870-4306T>G c.2581A>C (p.Ile861Leu) c.2224A>C (p.Ile742Leu) | |
2 | g.166272782T= | CA1304962868 | SCN1A-AS1,SCN9A | c.2968A= (p.Ile990=) c.2935A= (p.Ile979=) c.1877-284A= n.870-4306T= c.2581A= (p.Ile861=) c.2224A= (p.Ile742=) | |
2 | g.166272783C>A | CA349074661 | SCN1A-AS1,SCN9A | c.2967G>T (p.Gln989His) c.2934G>T (p.Gln978His) c.1877-285G>T n.870-4305C>A c.2580G>T (p.Gln860His) c.2223G>T (p.Gln741His) | gnomAD v4 |
2 | g.166272783C>G | CA349074662 | SCN1A-AS1,SCN9A | c.2967G>C (p.Gln989His) c.2934G>C (p.Gln978His) c.1877-285G>C n.870-4305C>G c.2580G>C (p.Gln860His) c.2223G>C (p.Gln741His) | |
2 | g.166272783C>T | CA429978086 | SCN1A-AS1,SCN9A | c.2967G>A (p.Gln989=) c.2934G>A (p.Gln978=) c.1877-285G>A n.870-4305C>T c.2580G>A (p.Gln860=) c.2223G>A (p.Gln741=) | |
2 | g.166272784T>A | CA349074664 | SCN1A-AS1,SCN9A | c.2966A>T (p.Gln989Leu) c.2933A>T (p.Gln978Leu) c.1877-286A>T n.870-4304T>A c.2579A>T (p.Gln860Leu) c.2222A>T (p.Gln741Leu) | |
2 | g.166272784T>C | CA349074667 | SCN1A-AS1,SCN9A | c.2966A>G (p.Gln989Arg) c.2933A>G (p.Gln978Arg) c.1877-286A>G n.870-4304T>C c.2579A>G (p.Gln860Arg) c.2222A>G (p.Gln741Arg) | ClinVar dbSNP |
2 | g.166272784T>G | CA349074669 | SCN1A-AS1,SCN9A | c.2966A>C (p.Gln989Pro) c.2933A>C (p.Gln978Pro) c.1877-286A>C n.870-4304T>G c.2579A>C (p.Gln860Pro) c.2222A>C (p.Gln741Pro) | |
2 | g.166272784T= | CA1304962869 | SCN1A-AS1,SCN9A | c.2966A= (p.Gln989=) c.2933A= (p.Gln978=) c.1877-286A= n.870-4304T= c.2579A= (p.Gln860=) c.2222A= (p.Gln741=) | |
2 | g.166272785G>A | CA349074675 | SCN1A-AS1,SCN9A | c.2965C>T (p.Gln989Ter) c.2932C>T (p.Gln978Ter) c.1877-287C>T n.870-4303G>A c.2578C>T (p.Gln860Ter) c.2221C>T (p.Gln741Ter) | gnomAD v4 |
2 | g.166272785G>C | CA349074671 | SCN1A-AS1,SCN9A | c.2965C>G (p.Gln989Glu) c.2932C>G (p.Gln978Glu) c.1877-287C>G n.870-4303G>C c.2578C>G (p.Gln860Glu) c.2221C>G (p.Gln741Glu) | |
2 | g.166272785G>T | CA349074673 | SCN1A-AS1,SCN9A | c.2965C>A (p.Gln989Lys) c.2932C>A (p.Gln978Lys) c.1877-287C>A n.870-4303G>T c.2578C>A (p.Gln860Lys) c.2221C>A (p.Gln741Lys) | |
2 | g.166272786G>A | CA1944159 | SCN1A-AS1,SCN9A | c.2964C>T (p.Leu988=) c.2931C>T (p.Leu977=) c.1877-288C>T n.870-4302G>A c.2577C>T (p.Leu859=) c.2220C>T (p.Leu740=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272786G>C | CA429978092 | SCN1A-AS1,SCN9A | c.2964C>G (p.Leu988=) c.2931C>G (p.Leu977=) c.1877-288C>G n.870-4302G>C c.2577C>G (p.Leu859=) c.2220C>G (p.Leu740=) | |
2 | g.166272786G= | CA1304962870 | SCN1A-AS1,SCN9A | c.2964C= (p.Leu988=) c.2931C= (p.Leu977=) c.1877-288C= n.870-4302G= c.2577C= (p.Leu859=) c.2220C= (p.Leu740=) | |
2 | g.166272786G>T | CA429978094 | SCN1A-AS1,SCN9A | c.2964C>A (p.Leu988=) c.2931C>A (p.Leu977=) c.1877-288C>A n.870-4302G>T c.2577C>A (p.Leu859=) c.2220C>A (p.Leu740=) | |
2 | g.166272787A>C | CA349074679 | SCN1A-AS1,SCN9A | c.2963T>G (p.Leu988Arg) c.2930T>G (p.Leu977Arg) c.1877-289T>G n.870-4301A>C c.2576T>G (p.Leu859Arg) c.2219T>G (p.Leu740Arg) | |
2 | g.166272787A>G | CA349074680 | SCN1A-AS1,SCN9A | c.2963T>C (p.Leu988Pro) c.2930T>C (p.Leu977Pro) c.1877-289T>C n.870-4301A>G c.2576T>C (p.Leu859Pro) c.2219T>C (p.Leu740Pro) | |
2 | g.166272787A>T | CA349074682 | SCN1A-AS1,SCN9A | c.2963T>A (p.Leu988His) c.2930T>A (p.Leu977His) c.1877-289T>A n.870-4301A>T c.2576T>A (p.Leu859His) c.2219T>A (p.Leu740His) | |
2 | g.166272787_166272788delinsAG | CA1304962871 | SCN1A-AS1,SCN9A | c.2962_2963delinsCT (p.Leu988=) c.2929_2930delinsCT (p.Leu977=) c.1877-290_1877-289delinsCT n.870-4301_870-4300delinsAG c.2575_2576delinsCT (p.Leu859=) c.2218_2219delinsCT (p.Leu740=) | |
2 | g.166272788G>A | CA1944160 | SCN1A-AS1,SCN9A | c.2962C>T (p.Leu988Phe) c.2929C>T (p.Leu977Phe) c.1877-290C>T n.870-4300G>A c.2575C>T (p.Leu859Phe) c.2218C>T (p.Leu740Phe) | dbSNP ExAC gnomAD v4 |
2 | g.166272788G>C | CA349074685 | SCN1A-AS1,SCN9A | c.2962C>G (p.Leu988Val) c.2929C>G (p.Leu977Val) c.1877-290C>G n.870-4300G>C c.2575C>G (p.Leu859Val) c.2218C>G (p.Leu740Val) | |
2 | g.166272788G= | CA1304962873 | SCN1A-AS1,SCN9A | c.2962C= (p.Leu988=) c.2929C= (p.Leu977=) c.1877-290C= n.870-4300G= c.2575C= (p.Leu859=) c.2218C= (p.Leu740=) | |
2 | g.166272788G>T | CA349074687 | SCN1A-AS1,SCN9A | c.2962C>A (p.Leu988Ile) c.2929C>A (p.Leu977Ile) c.1877-290C>A n.870-4300G>T c.2575C>A (p.Leu859Ile) c.2218C>A (p.Leu740Ile) | gnomAD v4 |
2 | g.166272789del | CA1304962872 | SCN1A-AS1,SCN9A | c.2962del (p.Leu988SerfsTer5) c.2929del (p.Leu977SerfsTer5) c.1877-290del n.870-4299del c.2575del (p.Leu859SerfsTer5) c.2218del (p.Leu740SerfsTer5) | dbSNP |
2 | g.166272789G>A | CA429978099 | SCN1A-AS1,SCN9A | c.2961C>T (p.Asn987=) c.2928C>T (p.Asn976=) c.1877-291C>T n.870-4299G>A c.2574C>T (p.Asn858=) c.2217C>T (p.Asn739=) | ClinVar |
2 | g.166272789G>C | CA349074692 | SCN1A-AS1,SCN9A | c.2961C>G (p.Asn987Lys) c.2928C>G (p.Asn976Lys) c.1877-291C>G n.870-4299G>C c.2574C>G (p.Asn858Lys) c.2217C>G (p.Asn739Lys) | |
2 | g.166272789G>T | CA349074694 | SCN1A-AS1,SCN9A | c.2961C>A (p.Asn987Lys) c.2928C>A (p.Asn976Lys) c.1877-291C>A n.870-4299G>T c.2574C>A (p.Asn858Lys) c.2217C>A (p.Asn739Lys) | |
2 | g.166272790T>A | CA349074697 | SCN1A-AS1,SCN9A | c.2960A>T (p.Asn987Ile) c.2927A>T (p.Asn976Ile) c.1877-292A>T n.870-4298T>A c.2573A>T (p.Asn858Ile) c.2216A>T (p.Asn739Ile) | |
2 | g.166272790T>C | CA349074698 | SCN1A-AS1,SCN9A | c.2960A>G (p.Asn987Ser) c.2927A>G (p.Asn976Ser) c.1877-292A>G n.870-4298T>C c.2573A>G (p.Asn858Ser) c.2216A>G (p.Asn739Ser) | ClinVar dbSNP |
2 | g.166272790T>G | CA349074700 | SCN1A-AS1,SCN9A | c.2960A>C (p.Asn987Thr) c.2927A>C (p.Asn976Thr) c.1877-292A>C n.870-4298T>G c.2573A>C (p.Asn858Thr) c.2216A>C (p.Asn739Thr) | |
2 | g.166272791T>A | CA349074703 | SCN1A-AS1,SCN9A | c.2959A>T (p.Asn987Tyr) c.2926A>T (p.Asn976Tyr) c.1877-293A>T n.870-4297T>A c.2572A>T (p.Asn858Tyr) c.2215A>T (p.Asn739Tyr) | |
2 | g.166272791T>C | CA349074704 | SCN1A-AS1,SCN9A | c.2959A>G (p.Asn987Asp) c.2926A>G (p.Asn976Asp) c.1877-293A>G n.870-4297T>C c.2572A>G (p.Asn858Asp) c.2215A>G (p.Asn739Asp) | |
2 | g.166272791T>G | CA349074705 | SCN1A-AS1,SCN9A | c.2959A>C (p.Asn987His) c.2926A>C (p.Asn976His) c.1877-293A>C n.870-4297T>G c.2572A>C (p.Asn858His) c.2215A>C (p.Asn739His) | |
2 | g.166272792G>A | CA429978101 | SCN1A-AS1,SCN9A | c.2958C>T (p.Asn986=) c.2925C>T (p.Asn975=) c.1877-294C>T n.870-4296G>A c.2571C>T (p.Asn857=) c.2214C>T (p.Asn738=) | |
2 | g.166272792G>C | CA349074707 | SCN1A-AS1,SCN9A | c.2958C>G (p.Asn986Lys) c.2925C>G (p.Asn975Lys) c.1877-294C>G n.870-4296G>C c.2571C>G (p.Asn857Lys) c.2214C>G (p.Asn738Lys) | |
2 | g.166272792G>T | CA349074709 | SCN1A-AS1,SCN9A | c.2958C>A (p.Asn986Lys) c.2925C>A (p.Asn975Lys) c.1877-294C>A n.870-4296G>T c.2571C>A (p.Asn857Lys) c.2214C>A (p.Asn738Lys) | gnomAD v4 COSMIC COSMIC |
2 | g.166272793T>A | CA349074712 | SCN1A-AS1,SCN9A | c.2957A>T (p.Asn986Ile) c.2924A>T (p.Asn975Ile) c.1877-295A>T n.870-4295T>A c.2570A>T (p.Asn857Ile) c.2213A>T (p.Asn738Ile) | |
2 | g.166272793T>C | CA349074714 | SCN1A-AS1,SCN9A | c.2957A>G (p.Asn986Ser) c.2924A>G (p.Asn975Ser) c.1877-295A>G n.870-4295T>C c.2570A>G (p.Asn857Ser) c.2213A>G (p.Asn738Ser) | |
2 | g.166272793T>G | CA349074716 | SCN1A-AS1,SCN9A | c.2957A>C (p.Asn986Thr) c.2924A>C (p.Asn975Thr) c.1877-295A>C n.870-4295T>G c.2570A>C (p.Asn857Thr) c.2213A>C (p.Asn738Thr) | |
2 | g.166272794T>A | CA349074719 | SCN1A-AS1,SCN9A | c.2956A>T (p.Asn986Tyr) c.2923A>T (p.Asn975Tyr) c.1877-296A>T n.870-4294T>A c.2569A>T (p.Asn857Tyr) c.2212A>T (p.Asn738Tyr) | |
2 | g.166272794T>C | CA349074720 | SCN1A-AS1,SCN9A | c.2956A>G (p.Asn986Asp) c.2923A>G (p.Asn975Asp) c.1877-296A>G n.870-4294T>C c.2569A>G (p.Asn857Asp) c.2212A>G (p.Asn738Asp) | |
2 | g.166272794T>G | CA349074722 | SCN1A-AS1,SCN9A | c.2956A>C (p.Asn986His) c.2923A>C (p.Asn975His) c.1877-296A>C n.870-4294T>G c.2569A>C (p.Asn857His) c.2212A>C (p.Asn738His) | |
2 | g.166272795T>A | CA429978105 | SCN1A-AS1,SCN9A | c.2955A>T (p.Ala985=) c.2922A>T (p.Ala974=) c.1877-297A>T n.870-4293T>A c.2568A>T (p.Ala856=) c.2211A>T (p.Ala737=) | |
2 | g.166272795T>C | CA429978107 | SCN1A-AS1,SCN9A | c.2955A>G (p.Ala985=) c.2922A>G (p.Ala974=) c.1877-297A>G n.870-4293T>C c.2568A>G (p.Ala856=) c.2211A>G (p.Ala737=) | |
2 | g.166272795T>G | CA429978106 | SCN1A-AS1,SCN9A | c.2955A>C (p.Ala985=) c.2922A>C (p.Ala974=) c.1877-297A>C n.870-4293T>G c.2568A>C (p.Ala856=) c.2211A>C (p.Ala737=) | |
2 | g.166272796G>A | CA349074725 | SCN1A-AS1,SCN9A | c.2954C>T (p.Ala985Val) c.2921C>T (p.Ala974Val) c.1877-298C>T n.870-4292G>A c.2567C>T (p.Ala856Val) c.2210C>T (p.Ala737Val) | |
2 | g.166272796G>C | CA349074726 | SCN1A-AS1,SCN9A | c.2954C>G (p.Ala985Gly) c.2921C>G (p.Ala974Gly) c.1877-298C>G n.870-4292G>C c.2567C>G (p.Ala856Gly) c.2210C>G (p.Ala737Gly) | |
2 | g.166272796G>T | CA349074728 | SCN1A-AS1,SCN9A | c.2954C>A (p.Ala985Glu) c.2921C>A (p.Ala974Glu) c.1877-298C>A n.870-4292G>T c.2567C>A (p.Ala856Glu) c.2210C>A (p.Ala737Glu) | gnomAD v4 |
2 | g.166272797C>A | CA349074731 | SCN1A-AS1,SCN9A | c.2953G>T (p.Ala985Ser) c.2920G>T (p.Ala974Ser) c.1877-299G>T n.870-4291C>A c.2566G>T (p.Ala856Ser) c.2209G>T (p.Ala737Ser) | gnomAD v4 |
2 | g.166272797C>G | CA349074732 | SCN1A-AS1,SCN9A | c.2953G>C (p.Ala985Pro) c.2920G>C (p.Ala974Pro) c.1877-299G>C n.870-4291C>G c.2566G>C (p.Ala856Pro) c.2209G>C (p.Ala737Pro) | |
2 | g.166272797C>T | CA349074734 | SCN1A-AS1,SCN9A | c.2953G>A (p.Ala985Thr) c.2920G>A (p.Ala974Thr) c.1877-299G>A n.870-4291C>T c.2566G>A (p.Ala856Thr) c.2209G>A (p.Ala737Thr) | ClinVar |
2 | g.166272798A= | CA1304962874 | SCN1A-AS1,SCN9A | c.2952T= (p.Asp984=) c.2919T= (p.Asp973=) c.1877-300T= n.870-4290A= c.2565T= (p.Asp855=) c.2208T= (p.Asp736=) | |
2 | g.166272798A>C | CA349074737 | SCN1A-AS1,SCN9A | c.2952T>G (p.Asp984Glu) c.2919T>G (p.Asp973Glu) c.1877-300T>G n.870-4290A>C c.2565T>G (p.Asp855Glu) c.2208T>G (p.Asp736Glu) | dbSNP |
2 | g.166272798A>G | CA1944161 | SCN1A-AS1,SCN9A | c.2952T>C (p.Asp984=) c.2919T>C (p.Asp973=) c.1877-300T>C n.870-4290A>G c.2565T>C (p.Asp855=) c.2208T>C (p.Asp736=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272798A>T | CA349074739 | SCN1A-AS1,SCN9A | c.2952T>A (p.Asp984Glu) c.2919T>A (p.Asp973Glu) c.1877-300T>A n.870-4290A>T c.2565T>A (p.Asp855Glu) c.2208T>A (p.Asp736Glu) | |
2 | g.166272799T>A | CA349074743 | SCN1A-AS1,SCN9A | c.2951A>T (p.Asp984Val) c.2918A>T (p.Asp973Val) c.1877-301A>T n.870-4289T>A c.2564A>T (p.Asp855Val) c.2207A>T (p.Asp736Val) n.3419A>T | |
2 | g.166272799T>C | CA349074745 | SCN1A-AS1,SCN9A | c.2951A>G (p.Asp984Gly) c.2918A>G (p.Asp973Gly) c.1877-301A>G n.870-4289T>C c.2564A>G (p.Asp855Gly) c.2207A>G (p.Asp736Gly) n.3419A>G | |
2 | g.166272799T>G | CA349074746 | SCN1A-AS1,SCN9A | c.2951A>C (p.Asp984Ala) c.2918A>C (p.Asp973Ala) c.1877-301A>C n.870-4289T>G c.2564A>C (p.Asp855Ala) c.2207A>C (p.Asp736Ala) n.3419A>C | |
2 | g.166272800C>A | CA349074749 | SCN1A-AS1,SCN9A | c.2950G>T (p.Asp984Tyr) c.2917G>T (p.Asp973Tyr) c.1877-302G>T n.870-4288C>A c.2563G>T (p.Asp855Tyr) c.2206G>T (p.Asp736Tyr) n.3418G>T | gnomAD v4 |
2 | g.166272800C>G | CA349074751 | SCN1A-AS1,SCN9A | c.2950G>C (p.Asp984His) c.2917G>C (p.Asp973His) c.1877-302G>C n.870-4288C>G c.2563G>C (p.Asp855His) c.2206G>C (p.Asp736His) n.3418G>C | |
2 | g.166272800C>T | CA349074752 | SCN1A-AS1,SCN9A | c.2950G>A (p.Asp984Asn) c.2917G>A (p.Asp973Asn) c.1877-302G>A n.870-4288C>T c.2563G>A (p.Asp855Asn) c.2206G>A (p.Asp736Asn) n.3418G>A | |
2 | g.166272801A>C | CA429978118 | SCN1A-AS1,SCN9A | c.2949T>G (p.Pro983=) c.2916T>G (p.Pro972=) c.1877-303T>G n.870-4287A>C c.2562T>G (p.Pro854=) c.2205T>G (p.Pro735=) n.3417T>G | gnomAD v4 |
2 | g.166272801A>G | CA429978119 | SCN1A-AS1,SCN9A | c.2949T>C (p.Pro983=) c.2916T>C (p.Pro972=) c.1877-303T>C n.870-4287A>G c.2562T>C (p.Pro854=) c.2205T>C (p.Pro735=) n.3417T>C | |
2 | g.166272801A>T | CA429978120 | SCN1A-AS1,SCN9A | c.2949T>A (p.Pro983=) c.2916T>A (p.Pro972=) c.1877-303T>A n.870-4287A>T c.2562T>A (p.Pro854=) c.2205T>A (p.Pro735=) n.3417T>A | |
2 | g.166272802G>A | CA349074759 | SCN1A-AS1,SCN9A | c.2948C>T (p.Pro983Leu) c.2915C>T (p.Pro972Leu) c.1877-304C>T n.870-4286G>A c.2561C>T (p.Pro854Leu) c.2204C>T (p.Pro735Leu) n.3416C>T | dbSNP |
2 | g.166272802G>C | CA349074755 | SCN1A-AS1,SCN9A | c.2948C>G (p.Pro983Arg) c.2915C>G (p.Pro972Arg) c.1877-304C>G n.870-4286G>C c.2561C>G (p.Pro854Arg) c.2204C>G (p.Pro735Arg) n.3416C>G | |
2 | g.166272802G= | CA1304962875 | SCN1A-AS1,SCN9A | c.2948C= (p.Pro983=) c.2915C= (p.Pro972=) c.1877-304C= n.870-4286G= c.2561C= (p.Pro854=) c.2204C= (p.Pro735=) n.3416C= | |
2 | g.166272802G>T | CA349074757 | SCN1A-AS1,SCN9A | c.2948C>A (p.Pro983His) c.2915C>A (p.Pro972His) c.1877-304C>A n.870-4286G>T c.2561C>A (p.Pro854His) c.2204C>A (p.Pro735His) n.3416C>A | |
2 | g.166272803G>A | CA349074761 | SCN1A-AS1,SCN9A | c.2947C>T (p.Pro983Ser) c.2914C>T (p.Pro972Ser) c.1877-305C>T n.870-4285G>A c.2560C>T (p.Pro854Ser) c.2203C>T (p.Pro735Ser) n.3415C>T | gnomAD v4 COSMIC COSMIC |
2 | g.166272803G>C | CA349074763 | SCN1A-AS1,SCN9A | c.2947C>G (p.Pro983Ala) c.2914C>G (p.Pro972Ala) c.1877-305C>G n.870-4285G>C c.2560C>G (p.Pro854Ala) c.2203C>G (p.Pro735Ala) n.3415C>G | dbSNP |
2 | g.166272803G= | CA1304962876 | SCN1A-AS1,SCN9A | c.2947C= (p.Pro983=) c.2914C= (p.Pro972=) c.1877-305C= n.870-4285G= c.2560C= (p.Pro854=) c.2203C= (p.Pro735=) n.3415C= | |
2 | g.166272803G>T | CA349074765 | SCN1A-AS1,SCN9A | c.2947C>A (p.Pro983Thr) c.2914C>A (p.Pro972Thr) c.1877-305C>A n.870-4285G>T c.2560C>A (p.Pro854Thr) c.2203C>A (p.Pro735Thr) n.3415C>A | |
2 | g.166272804G>A | CA429978125 | SCN1A-AS1,SCN9A | c.2946C>T (p.Asp982=) c.2913C>T (p.Asp971=) c.1877-306C>T n.870-4284G>A c.2559C>T (p.Asp853=) c.2202C>T (p.Asp734=) n.3414C>T | dbSNP |
2 | g.166272804G>C | CA349074767 | SCN1A-AS1,SCN9A | c.2946C>G (p.Asp982Glu) c.2913C>G (p.Asp971Glu) c.1877-306C>G n.870-4284G>C c.2559C>G (p.Asp853Glu) c.2202C>G (p.Asp734Glu) n.3414C>G | |
2 | g.166272804G= | CA1304962877 | SCN1A-AS1,SCN9A | c.2946C= (p.Asp982=) c.2913C= (p.Asp971=) c.1877-306C= n.870-4284G= c.2559C= (p.Asp853=) c.2202C= (p.Asp734=) n.3414C= | |
2 | g.166272804G>T | CA349074769 | SCN1A-AS1,SCN9A | c.2946C>A (p.Asp982Glu) c.2913C>A (p.Asp971Glu) c.1877-306C>A n.870-4284G>T c.2559C>A (p.Asp853Glu) c.2202C>A (p.Asp734Glu) n.3414C>A | ClinVar |
2 | g.166272805T>A | CA349074774 | SCN1A-AS1,SCN9A | c.2945A>T (p.Asp982Val) c.2912A>T (p.Asp971Val) c.1877-307A>T n.870-4283T>A c.2558A>T (p.Asp853Val) c.2201A>T (p.Asp734Val) n.3413A>T | |
2 | g.166272805T>C | CA59791822 | SCN1A-AS1,SCN9A | c.2945A>G (p.Asp982Gly) c.2912A>G (p.Asp971Gly) c.1877-307A>G n.870-4283T>C c.2558A>G (p.Asp853Gly) c.2201A>G (p.Asp734Gly) n.3413A>G | dbSNP |
2 | g.166272805T>G | CA349074773 | SCN1A-AS1,SCN9A | c.2945A>C (p.Asp982Ala) c.2912A>C (p.Asp971Ala) c.1877-307A>C n.870-4283T>G c.2558A>C (p.Asp853Ala) c.2201A>C (p.Asp734Ala) n.3413A>C | |
2 | g.166272805T= | CA1304962878 | SCN1A-AS1,SCN9A | c.2945A= (p.Asp982=) c.2912A= (p.Asp971=) c.1877-307A= n.870-4283T= c.2558A= (p.Asp853=) c.2201A= (p.Asp734=) n.3413A= | |
2 | g.166272810_166272812del | CA429978126 | SCN1A-AS1,SCN9A | c.2943_2945del (p.Glu981del) c.2910_2912del (p.Glu970del) c.1877-309_1877-307del n.870-4278_870-4276del c.2556_2558del (p.Glu852del) c.2199_2201del (p.Glu733del) n.3411_3413del | gnomAD v4 |
2 | g.166272806C>A | CA349074776 | SCN1A-AS1,SCN9A | c.2944G>T (p.Asp982Tyr) c.2911G>T (p.Asp971Tyr) c.1877-308G>T n.870-4282C>A c.2557G>T (p.Asp853Tyr) c.2200G>T (p.Asp734Tyr) n.3412G>T | |
2 | g.166272806C>G | CA349074778 | SCN1A-AS1,SCN9A | c.2944G>C (p.Asp982His) c.2911G>C (p.Asp971His) c.1877-308G>C n.870-4282C>G c.2557G>C (p.Asp853His) c.2200G>C (p.Asp734His) n.3412G>C | |
2 | g.166272806C>T | CA349074779 | SCN1A-AS1,SCN9A | c.2944G>A (p.Asp982Asn) c.2911G>A (p.Asp971Asn) c.1877-308G>A n.870-4282C>T c.2557G>A (p.Asp853Asn) c.2200G>A (p.Asp734Asn) n.3412G>A | |
2 | g.166272807T>A | CA349074782 | SCN1A-AS1,SCN9A | c.2943A>T (p.Glu981Asp) c.2910A>T (p.Glu970Asp) c.1877-309A>T n.870-4281T>A c.2556A>T (p.Glu852Asp) c.2199A>T (p.Glu733Asp) n.3411A>T | |
2 | g.166272807T>C | CA429978132 | SCN1A-AS1,SCN9A | c.2943A>G (p.Glu981=) c.2910A>G (p.Glu970=) c.1877-309A>G n.870-4281T>C c.2556A>G (p.Glu852=) c.2199A>G (p.Glu733=) n.3411A>G | gnomAD v4 |
2 | g.166272807T>G | CA349074783 | SCN1A-AS1,SCN9A | c.2943A>C (p.Glu981Asp) c.2910A>C (p.Glu970Asp) c.1877-309A>C n.870-4281T>G c.2556A>C (p.Glu852Asp) c.2199A>C (p.Glu733Asp) n.3411A>C | |
2 | g.166272808T>A | CA349074785 | SCN1A-AS1,SCN9A | c.2942A>T (p.Glu981Val) c.2909A>T (p.Glu970Val) c.1877-310A>T n.870-4280T>A c.2555A>T (p.Glu852Val) c.2198A>T (p.Glu733Val) n.3410A>T | |
2 | g.166272808T>C | CA349074787 | SCN1A-AS1,SCN9A | c.2942A>G (p.Glu981Gly) c.2909A>G (p.Glu970Gly) c.1877-310A>G n.870-4280T>C c.2555A>G (p.Glu852Gly) c.2198A>G (p.Glu733Gly) n.3410A>G | |
2 | g.166272808T>G | CA349074789 | SCN1A-AS1,SCN9A | c.2942A>C (p.Glu981Ala) c.2909A>C (p.Glu970Ala) c.1877-310A>C n.870-4280T>G c.2555A>C (p.Glu852Ala) c.2198A>C (p.Glu733Ala) n.3410A>C | |
2 | g.166272809C>A | CA349074791 | SCN1A-AS1,SCN9A | c.2941G>T (p.Glu981Ter) c.2908G>T (p.Glu970Ter) c.1877-311G>T n.870-4279C>A c.2554G>T (p.Glu852Ter) c.2197G>T (p.Glu733Ter) n.3409G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272809C= | CA1304962879 | SCN1A-AS1,SCN9A | c.2941G= (p.Glu981=) c.2908G= (p.Glu970=) c.1877-311G= n.870-4279C= c.2554G= (p.Glu852=) c.2197G= (p.Glu733=) n.3409G= | |
2 | g.166272809C>G | CA349074793 | SCN1A-AS1,SCN9A | c.2941G>C (p.Glu981Gln) c.2908G>C (p.Glu970Gln) c.1877-311G>C n.870-4279C>G c.2554G>C (p.Glu852Gln) c.2197G>C (p.Glu733Gln) n.3409G>C | |
2 | g.166272809C>T | CA349074795 | SCN1A-AS1,SCN9A | c.2941G>A (p.Glu981Lys) c.2908G>A (p.Glu970Lys) c.1877-311G>A n.870-4279C>T c.2554G>A (p.Glu852Lys) c.2197G>A (p.Glu733Lys) n.3409G>A | COSMIC COSMIC |
2 | g.166272810T>A | CA349074796 | SCN1A-AS1,SCN9A | c.2940A>T (p.Glu980Asp) c.2907A>T (p.Glu969Asp) c.1877-312A>T n.870-4278T>A c.2553A>T (p.Glu851Asp) c.2196A>T (p.Glu732Asp) n.3408A>T | |
2 | g.166272810T>C | CA429978136 | SCN1A-AS1,SCN9A | c.2940A>G (p.Glu980=) c.2907A>G (p.Glu969=) c.1877-312A>G n.870-4278T>C c.2553A>G (p.Glu851=) c.2196A>G (p.Glu732=) n.3408A>G | |
2 | g.166272810T>G | CA349074798 | SCN1A-AS1,SCN9A | c.2940A>C (p.Glu980Asp) c.2907A>C (p.Glu969Asp) c.1877-312A>C n.870-4278T>G c.2553A>C (p.Glu851Asp) c.2196A>C (p.Glu732Asp) n.3408A>C | |
2 | g.166272811T>A | CA349074801 | SCN1A-AS1,SCN9A | c.2939A>T (p.Glu980Val) c.2906A>T (p.Glu969Val) c.1877-313A>T n.870-4277T>A c.2552A>T (p.Glu851Val) c.2195A>T (p.Glu732Val) n.3407A>T | |
2 | g.166272811T>C | CA349074804 | SCN1A-AS1,SCN9A | c.2939A>G (p.Glu980Gly) c.2906A>G (p.Glu969Gly) c.1877-313A>G n.870-4277T>C c.2552A>G (p.Glu851Gly) c.2195A>G (p.Glu732Gly) n.3407A>G | gnomAD v4 |
2 | g.166272811T>G | CA349074802 | SCN1A-AS1,SCN9A | c.2939A>C (p.Glu980Ala) c.2906A>C (p.Glu969Ala) c.1877-313A>C n.870-4277T>G c.2552A>C (p.Glu851Ala) c.2195A>C (p.Glu732Ala) n.3407A>C | |
2 | g.166272812C>A | CA349074807 | SCN1A-AS1,SCN9A | c.2938G>T (p.Glu980Ter) c.2905G>T (p.Glu969Ter) c.1877-314G>T n.870-4276C>A c.2551G>T (p.Glu851Ter) c.2194G>T (p.Glu732Ter) n.3406G>T | |
2 | g.166272812C>G | CA349074808 | SCN1A-AS1,SCN9A | c.2938G>C (p.Glu980Gln) c.2905G>C (p.Glu969Gln) c.1877-314G>C n.870-4276C>G c.2551G>C (p.Glu851Gln) c.2194G>C (p.Glu732Gln) n.3406G>C | |
2 | g.166272812C>T | CA349074810 | SCN1A-AS1,SCN9A | c.2938G>A (p.Glu980Lys) c.2905G>A (p.Glu969Lys) c.1877-314G>A n.870-4276C>T c.2551G>A (p.Glu851Lys) c.2194G>A (p.Glu732Lys) n.3406G>A | |
2 | g.166272813A>C | CA349074812 | SCN1A-AS1,SCN9A | c.2937T>G (p.Ile979Met) c.2904T>G (p.Ile968Met) c.1877-315T>G n.870-4275A>C c.2550T>G (p.Ile850Met) c.2193T>G (p.Ile731Met) n.3405T>G | |
2 | g.166272813A>G | CA429978139 | SCN1A-AS1,SCN9A | c.2937T>C (p.Ile979=) c.2904T>C (p.Ile968=) c.1877-315T>C n.870-4275A>G c.2550T>C (p.Ile850=) c.2193T>C (p.Ile731=) n.3405T>C | |
2 | g.166272813A>T | CA429978142 | SCN1A-AS1,SCN9A | c.2937T>A (p.Ile979=) c.2904T>A (p.Ile968=) c.1877-315T>A n.870-4275A>T c.2550T>A (p.Ile850=) c.2193T>A (p.Ile731=) n.3405T>A | |
2 | g.166272814A>C | CA349074815 | SCN1A-AS1,SCN9A | c.2936T>G (p.Ile979Ser) c.2903T>G (p.Ile968Ser) c.1877-316T>G n.870-4274A>C c.2549T>G (p.Ile850Ser) c.2192T>G (p.Ile731Ser) n.3404T>G | |
2 | g.166272814A>G | CA349074817 | SCN1A-AS1,SCN9A | c.2936T>C (p.Ile979Thr) c.2903T>C (p.Ile968Thr) c.1877-316T>C n.870-4274A>G c.2549T>C (p.Ile850Thr) c.2192T>C (p.Ile731Thr) n.3404T>C | |
2 | g.166272814A>T | CA349074819 | SCN1A-AS1,SCN9A | c.2936T>A (p.Ile979Asn) c.2903T>A (p.Ile968Asn) c.1877-316T>A n.870-4274A>T c.2549T>A (p.Ile850Asn) c.2192T>A (p.Ile731Asn) n.3404T>A | |
2 | g.166272815T>A | CA349074821 | SCN1A-AS1,SCN9A | c.2935A>T (p.Ile979Phe) c.2902A>T (p.Ile968Phe) c.1877-317A>T n.870-4273T>A c.2548A>T (p.Ile850Phe) c.2191A>T (p.Ile731Phe) n.3403A>T | |
2 | g.166272815T>C | CA349074822 | SCN1A-AS1,SCN9A | c.2935A>G (p.Ile979Val) c.2902A>G (p.Ile968Val) c.1877-317A>G n.870-4273T>C c.2548A>G (p.Ile850Val) c.2191A>G (p.Ile731Val) n.3403A>G | |
2 | g.166272815T>G | CA349074823 | SCN1A-AS1,SCN9A | c.2935A>C (p.Ile979Leu) c.2902A>C (p.Ile968Leu) c.1877-317A>C n.870-4273T>G c.2548A>C (p.Ile850Leu) c.2191A>C (p.Ile731Leu) n.3403A>C | |
2 | g.166272816T>A | CA429978150 | SCN1A-AS1,SCN9A | c.2934A>T (p.Ala978=) c.2901A>T (p.Ala967=) c.1877-318A>T n.870-4272T>A c.2547A>T (p.Ala849=) c.2190A>T (p.Ala730=) n.3402A>T | |
2 | g.166272816T>C | CA429978146 | SCN1A-AS1,SCN9A | c.2934A>G (p.Ala978=) c.2901A>G (p.Ala967=) c.1877-318A>G n.870-4272T>C c.2547A>G (p.Ala849=) c.2190A>G (p.Ala730=) n.3402A>G | |
2 | g.166272816T>G | CA429978147 | SCN1A-AS1,SCN9A | c.2934A>C (p.Ala978=) c.2901A>C (p.Ala967=) c.1877-318A>C n.870-4272T>G c.2547A>C (p.Ala849=) c.2190A>C (p.Ala730=) n.3402A>C | |
2 | g.166272817G>A | CA349074825 | SCN1A-AS1,SCN9A | c.2933C>T (p.Ala978Val) c.2900C>T (p.Ala967Val) c.1877-319C>T n.870-4271G>A c.2546C>T (p.Ala849Val) c.2189C>T (p.Ala730Val) n.3401C>T | |
2 | g.166272817G>C | CA349074827 | SCN1A-AS1,SCN9A | c.2933C>G (p.Ala978Gly) c.2900C>G (p.Ala967Gly) c.1877-319C>G n.870-4271G>C c.2546C>G (p.Ala849Gly) c.2189C>G (p.Ala730Gly) n.3401C>G | |
2 | g.166272817G>T | CA349074829 | SCN1A-AS1,SCN9A | c.2933C>A (p.Ala978Glu) c.2900C>A (p.Ala967Glu) c.1877-319C>A n.870-4271G>T c.2546C>A (p.Ala849Glu) c.2189C>A (p.Ala730Glu) n.3401C>A | |
2 | g.166272818C>A | CA349074831 | SCN1A-AS1,SCN9A | c.2932G>T (p.Ala978Ser) c.2899G>T (p.Ala967Ser) c.1877-320G>T n.870-4270C>A c.2545G>T (p.Ala849Ser) c.2188G>T (p.Ala730Ser) n.3400G>T | |
2 | g.166272818C= | CA1304962880 | SCN1A-AS1,SCN9A | c.2932G= (p.Ala978=) c.2899G= (p.Ala967=) c.1877-320G= n.870-4270C= c.2545G= (p.Ala849=) c.2188G= (p.Ala730=) n.3400G= | |
2 | g.166272818C>G | CA349074835 | SCN1A-AS1,SCN9A | c.2932G>C (p.Ala978Pro) c.2899G>C (p.Ala967Pro) c.1877-320G>C n.870-4270C>G c.2545G>C (p.Ala849Pro) c.2188G>C (p.Ala730Pro) n.3400G>C | |
2 | g.166272818C>T | CA349074833 | SCN1A-AS1,SCN9A | c.2932G>A (p.Ala978Thr) c.2899G>A (p.Ala967Thr) c.1877-320G>A n.870-4270C>T c.2545G>A (p.Ala849Thr) c.2188G>A (p.Ala730Thr) n.3400G>A | dbSNP gnomAD v2 |
2 | g.166272819T>A | CA429978153 | SCN1A-AS1,SCN9A | c.2931A>T (p.Thr977=) c.2898A>T (p.Thr966=) c.1877-321A>T n.870-4269T>A c.2544A>T (p.Thr848=) c.2187A>T (p.Thr729=) n.3399A>T | |
2 | g.166272819T>C | CA429978154 | SCN1A-AS1,SCN9A | c.2931A>G (p.Thr977=) c.2898A>G (p.Thr966=) c.1877-321A>G n.870-4269T>C c.2544A>G (p.Thr848=) c.2187A>G (p.Thr729=) n.3399A>G | ClinVar dbSNP |
2 | g.166272819T>G | CA1944162 | SCN1A-AS1,SCN9A | c.2931A>C (p.Thr977=) c.2898A>C (p.Thr966=) c.1877-321A>C n.870-4269T>G c.2544A>C (p.Thr848=) c.2187A>C (p.Thr729=) n.3399A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272819T= | CA1304962881 | SCN1A-AS1,SCN9A | c.2931A= (p.Thr977=) c.2898A= (p.Thr966=) c.1877-321A= n.870-4269T= c.2544A= (p.Thr848=) c.2187A= (p.Thr729=) n.3399A= | |
2 | g.166272820G>A | CA349074839 | SCN1A-AS1,SCN9A | c.2930C>T (p.Thr977Ile) c.2897C>T (p.Thr966Ile) c.1877-322C>T n.870-4268G>A c.2543C>T (p.Thr848Ile) c.2186C>T (p.Thr729Ile) n.3398C>T | |
2 | g.166272820G>C | CA349074841 | SCN1A-AS1,SCN9A | c.2930C>G (p.Thr977Arg) c.2897C>G (p.Thr966Arg) c.1877-322C>G n.870-4268G>C c.2543C>G (p.Thr848Arg) c.2186C>G (p.Thr729Arg) n.3398C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166272820G= | CA1304962882 | SCN1A-AS1,SCN9A | c.2930C= (p.Thr977=) c.2897C= (p.Thr966=) c.1877-322C= n.870-4268G= c.2543C= (p.Thr848=) c.2186C= (p.Thr729=) n.3398C= | |
2 | g.166272820G>T | CA349074843 | SCN1A-AS1,SCN9A | c.2930C>A (p.Thr977Lys) c.2897C>A (p.Thr966Lys) c.1877-322C>A n.870-4268G>T c.2543C>A (p.Thr848Lys) c.2186C>A (p.Thr729Lys) n.3398C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272821T>A | CA349074845 | SCN1A-AS1,SCN9A | c.2929A>T (p.Thr977Ser) c.2896A>T (p.Thr966Ser) c.1877-323A>T n.870-4267T>A c.2542A>T (p.Thr848Ser) c.2185A>T (p.Thr729Ser) n.3397A>T | |
2 | g.166272821T>C | CA349074847 | SCN1A-AS1,SCN9A | c.2929A>G (p.Thr977Ala) c.2896A>G (p.Thr966Ala) c.1877-323A>G n.870-4267T>C c.2542A>G (p.Thr848Ala) c.2185A>G (p.Thr729Ala) n.3397A>G | |
2 | g.166272821T>G | CA349074849 | SCN1A-AS1,SCN9A | c.2929A>C (p.Thr977Pro) c.2896A>C (p.Thr966Pro) c.1877-323A>C n.870-4267T>G c.2542A>C (p.Thr848Pro) c.2185A>C (p.Thr729Pro) n.3397A>C | |
2 | g.166272822A= | CA1304962883 | SCN1A-AS1,SCN9A | c.2928T= (p.Leu976=) c.2895T= (p.Leu965=) c.1877-324T= n.870-4266A= c.2541T= (p.Leu847=) c.2184T= (p.Leu728=) n.3396T= | |
2 | g.166272822A>C | CA429978157 | SCN1A-AS1,SCN9A | c.2928T>G (p.Leu976=) c.2895T>G (p.Leu965=) c.1877-324T>G n.870-4266A>C c.2541T>G (p.Leu847=) c.2184T>G (p.Leu728=) n.3396T>G | |
2 | g.166272822A>G | CA1944163 | SCN1A-AS1,SCN9A | c.2928T>C (p.Leu976=) c.2895T>C (p.Leu965=) c.1877-324T>C n.870-4266A>G c.2541T>C (p.Leu847=) c.2184T>C (p.Leu728=) n.3396T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272822A>T | CA429978156 | SCN1A-AS1,SCN9A | c.2928T>A (p.Leu976=) c.2895T>A (p.Leu965=) c.1877-324T>A n.870-4266A>T c.2541T>A (p.Leu847=) c.2184T>A (p.Leu728=) n.3396T>A | |
2 | g.166272823A>C | CA349074851 | SCN1A-AS1,SCN9A | c.2927T>G (p.Leu976Arg) c.2894T>G (p.Leu965Arg) c.1877-325T>G n.870-4265A>C c.2540T>G (p.Leu847Arg) c.2183T>G (p.Leu728Arg) n.3395T>G | |
2 | g.166272823A>G | CA349074853 | SCN1A-AS1,SCN9A | c.2927T>C (p.Leu976Pro) c.2894T>C (p.Leu965Pro) c.1877-325T>C n.870-4265A>G c.2540T>C (p.Leu847Pro) c.2183T>C (p.Leu728Pro) n.3395T>C | |
2 | g.166272823A>T | CA349074855 | SCN1A-AS1,SCN9A | c.2927T>A (p.Leu976His) c.2894T>A (p.Leu965His) c.1877-325T>A n.870-4265A>T c.2540T>A (p.Leu847His) c.2183T>A (p.Leu728His) n.3395T>A | |
2 | g.166272824G>A | CA349074860 | SCN1A-AS1,SCN9A | c.2926C>T (p.Leu976Phe) c.2893C>T (p.Leu965Phe) c.1877-326C>T n.870-4264G>A c.2539C>T (p.Leu847Phe) c.2182C>T (p.Leu728Phe) n.3394C>T | |
2 | g.166272824G>C | CA349074862 | SCN1A-AS1,SCN9A | c.2926C>G (p.Leu976Val) c.2893C>G (p.Leu965Val) c.1877-326C>G n.870-4264G>C c.2539C>G (p.Leu847Val) c.2182C>G (p.Leu728Val) n.3394C>G | |
2 | g.166272824G>T | CA349074857 | SCN1A-AS1,SCN9A | c.2926C>A (p.Leu976Ile) c.2893C>A (p.Leu965Ile) c.1877-326C>A n.870-4264G>T c.2539C>A (p.Leu847Ile) c.2182C>A (p.Leu728Ile) n.3394C>A | |
2 | g.166272825A>C | CA349074866 | SCN1A-AS1,SCN9A | c.2925T>G (p.Asn975Lys) c.2892T>G (p.Asn964Lys) c.1877-327T>G n.870-4263A>C c.2538T>G (p.Asn846Lys) c.2181T>G (p.Asn727Lys) n.3393T>G | |
2 | g.166272825A>G | CA429978160 | SCN1A-AS1,SCN9A | c.2925T>C (p.Asn975=) c.2892T>C (p.Asn964=) c.1877-327T>C n.870-4263A>G c.2538T>C (p.Asn846=) c.2181T>C (p.Asn727=) n.3393T>C | gnomAD v4 |
2 | g.166272825A>T | CA349074864 | SCN1A-AS1,SCN9A | c.2925T>A (p.Asn975Lys) c.2892T>A (p.Asn964Lys) c.1877-327T>A n.870-4263A>T c.2538T>A (p.Asn846Lys) c.2181T>A (p.Asn727Lys) n.3393T>A | |
2 | g.166272826T>A | CA349074869 | SCN1A-AS1,SCN9A | c.2924A>T (p.Asn975Ile) c.2891A>T (p.Asn964Ile) c.1877-328A>T n.870-4262T>A c.2537A>T (p.Asn846Ile) c.2180A>T (p.Asn727Ile) n.3392A>T | |
2 | g.166272826T>C | CA1944164 | SCN1A-AS1,SCN9A | c.2924A>G (p.Asn975Ser) c.2891A>G (p.Asn964Ser) c.1877-328A>G n.870-4262T>C c.2537A>G (p.Asn846Ser) c.2180A>G (p.Asn727Ser) n.3392A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272826T>G | CA349074871 | SCN1A-AS1,SCN9A | c.2924A>C (p.Asn975Thr) c.2891A>C (p.Asn964Thr) c.1877-328A>C n.870-4262T>G c.2537A>C (p.Asn846Thr) c.2180A>C (p.Asn727Thr) n.3392A>C | dbSNP |
2 | g.166272826T= | CA1304962884 | SCN1A-AS1,SCN9A | c.2924A= (p.Asn975=) c.2891A= (p.Asn964=) c.1877-328A= n.870-4262T= c.2537A= (p.Asn846=) c.2180A= (p.Asn727=) n.3392A= | |
2 | g.166272827T>A | CA349074873 | SCN1A-AS1,SCN9A | c.2923A>T (p.Asn975Tyr) c.2890A>T (p.Asn964Tyr) c.1877-329A>T n.870-4261T>A c.2536A>T (p.Asn846Tyr) c.2179A>T (p.Asn727Tyr) n.3391A>T | ClinVar dbSNP gnomAD v4 |
2 | g.166272827T>C | CA349074877 | SCN1A-AS1,SCN9A | c.2923A>G (p.Asn975Asp) c.2890A>G (p.Asn964Asp) c.1877-329A>G n.870-4261T>C c.2536A>G (p.Asn846Asp) c.2179A>G (p.Asn727Asp) n.3391A>G | |
2 | g.166272827T>G | CA349074875 | SCN1A-AS1,SCN9A | c.2923A>C (p.Asn975His) c.2890A>C (p.Asn964His) c.1877-329A>C n.870-4261T>G c.2536A>C (p.Asn846His) c.2179A>C (p.Asn727His) n.3391A>C | |
2 | g.166272827_166272828delinsTG | CA1304962885 | SCN1A-AS1,SCN9A | c.2922_2923delinsCA (p.Asp974=) c.2889_2890delinsCA (p.Asp963=) c.1877-330_1877-329delinsCA n.870-4261_870-4260delinsTG c.2535_2536delinsCA (p.Asp845=) c.2178_2179delinsCA (p.Asp726=) n.3390_3391delinsCA | |
2 | g.166272828del | CA1304962886 | SCN1A-AS1,SCN9A | c.2922del (p.Asp974GlufsTer19) c.2889del (p.Asp963GlufsTer19) c.1877-330del n.870-4260del c.2535del (p.Asp845GlufsTer19) c.2178del (p.Asp726GlufsTer19) n.3390del | dbSNP |
2 | g.166272828G>A | CA429978162 | SCN1A-AS1,SCN9A | c.2922C>T (p.Asp974=) c.2889C>T (p.Asp963=) c.1877-330C>T n.870-4260G>A c.2535C>T (p.Asp845=) c.2178C>T (p.Asp726=) n.3390C>T | |
2 | g.166272828G>C | CA1944165 | SCN1A-AS1,SCN9A | c.2922C>G (p.Asp974Glu) c.2889C>G (p.Asp963Glu) c.1877-330C>G n.870-4260G>C c.2535C>G (p.Asp845Glu) c.2178C>G (p.Asp726Glu) n.3390C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272828G= | CA1304962887 | SCN1A-AS1,SCN9A | c.2922C= (p.Asp974=) c.2889C= (p.Asp963=) c.1877-330C= n.870-4260G= c.2535C= (p.Asp845=) c.2178C= (p.Asp726=) n.3390C= | |
2 | g.166272828G>T | CA59791845 | SCN1A-AS1,SCN9A | c.2922C>A (p.Asp974Glu) c.2889C>A (p.Asp963Glu) c.1877-330C>A n.870-4260G>T c.2535C>A (p.Asp845Glu) c.2178C>A (p.Asp726Glu) n.3390C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166272829T>A | CA349074882 | SCN1A-AS1,SCN9A | c.2921A>T (p.Asp974Val) c.2888A>T (p.Asp963Val) c.1877-331A>T n.870-4259T>A c.2534A>T (p.Asp845Val) c.2177A>T (p.Asp726Val) n.3389A>T | |
2 | g.166272829T>C | CA349074884 | SCN1A-AS1,SCN9A | c.2921A>G (p.Asp974Gly) c.2888A>G (p.Asp963Gly) c.1877-331A>G n.870-4259T>C c.2534A>G (p.Asp845Gly) c.2177A>G (p.Asp726Gly) n.3389A>G | gnomAD v4 |
2 | g.166272829T>G | CA349074886 | SCN1A-AS1,SCN9A | c.2921A>C (p.Asp974Ala) c.2888A>C (p.Asp963Ala) c.1877-331A>C n.870-4259T>G c.2534A>C (p.Asp845Ala) c.2177A>C (p.Asp726Ala) n.3389A>C | |
2 | g.166272830C>A | CA349074888 | SCN1A-AS1,SCN9A | c.2920G>T (p.Asp974Tyr) c.2887G>T (p.Asp963Tyr) c.1877-332G>T n.870-4258C>A c.2533G>T (p.Asp845Tyr) c.2176G>T (p.Asp726Tyr) n.3388G>T | |
2 | g.166272830C>G | CA349074890 | SCN1A-AS1,SCN9A | c.2920G>C (p.Asp974His) c.2887G>C (p.Asp963His) c.1877-332G>C n.870-4258C>G c.2533G>C (p.Asp845His) c.2176G>C (p.Asp726His) n.3388G>C | |
2 | g.166272830C>T | CA349074892 | SCN1A-AS1,SCN9A | c.2920G>A (p.Asp974Asn) c.2887G>A (p.Asp963Asn) c.1877-332G>A n.870-4258C>T c.2533G>A (p.Asp845Asn) c.2176G>A (p.Asp726Asn) n.3388G>A | |
2 | g.166272831T>A | CA429978163 | SCN1A-AS1,SCN9A | c.2919A>T (p.Ser973=) c.2886A>T (p.Ser962=) c.1877-333A>T n.870-4257T>A c.2532A>T (p.Ser844=) c.2175A>T (p.Ser725=) n.3387A>T | |
2 | g.166272831T>C | CA429978164 | SCN1A-AS1,SCN9A | c.2919A>G (p.Ser973=) c.2886A>G (p.Ser962=) c.1877-333A>G n.870-4257T>C c.2532A>G (p.Ser844=) c.2175A>G (p.Ser725=) n.3387A>G | |
2 | g.166272831T>G | CA429978165 | SCN1A-AS1,SCN9A | c.2919A>C (p.Ser973=) c.2886A>C (p.Ser962=) c.1877-333A>C n.870-4257T>G c.2532A>C (p.Ser844=) c.2175A>C (p.Ser725=) n.3387A>C | |
2 | g.166272832G>A | CA349074894 | SCN1A-AS1,SCN9A | c.2918C>T (p.Ser973Leu) c.2885C>T (p.Ser962Leu) c.1877-334C>T n.870-4256G>A c.2531C>T (p.Ser844Leu) c.2174C>T (p.Ser725Leu) n.3386C>T | |
2 | g.166272832G>C | CA349074895 | SCN1A-AS1,SCN9A | c.2918C>G (p.Ser973Ter) c.2885C>G (p.Ser962Ter) c.1877-334C>G n.870-4256G>C c.2531C>G (p.Ser844Ter) c.2174C>G (p.Ser725Ter) n.3386C>G | |
2 | g.166272832G>T | CA349074897 | SCN1A-AS1,SCN9A | c.2918C>A (p.Ser973Ter) c.2885C>A (p.Ser962Ter) c.1877-334C>A n.870-4256G>T c.2531C>A (p.Ser844Ter) c.2174C>A (p.Ser725Ter) n.3386C>A | gnomAD v4 |
2 | g.166272833A>C | CA349074900 | SCN1A-AS1,SCN9A | c.2917T>G (p.Ser973Ala) c.2884T>G (p.Ser962Ala) c.1877-335T>G n.870-4255A>C c.2530T>G (p.Ser844Ala) c.2173T>G (p.Ser725Ala) n.3385T>G | |
2 | g.166272833A>G | CA349074901 | SCN1A-AS1,SCN9A | c.2917T>C (p.Ser973Pro) c.2884T>C (p.Ser962Pro) c.1877-335T>C n.870-4255A>G c.2530T>C (p.Ser844Pro) c.2173T>C (p.Ser725Pro) n.3385T>C | |
2 | g.166272833A>T | CA349074903 | SCN1A-AS1,SCN9A | c.2917T>A (p.Ser973Thr) c.2884T>A (p.Ser962Thr) c.1877-335T>A n.870-4255A>T c.2530T>A (p.Ser844Thr) c.2173T>A (p.Ser725Thr) n.3385T>A | |
2 | g.166272834A= | CA1304962888 | SCN1A-AS1,SCN9A | c.2916T= (p.Ser972=) c.2883T= (p.Ser961=) c.1877-336T= n.870-4254A= c.2529T= (p.Ser843=) c.2172T= (p.Ser724=) n.3384T= | |
2 | g.166272834A>C | CA349074908 | SCN1A-AS1,SCN9A | c.2916T>G (p.Ser972Arg) c.2883T>G (p.Ser961Arg) c.1877-336T>G n.870-4254A>C c.2529T>G (p.Ser843Arg) c.2172T>G (p.Ser724Arg) n.3384T>G | |
2 | g.166272834A>G | CA10611656 | SCN1A-AS1,SCN9A | c.2916T>C (p.Ser972=) c.2883T>C (p.Ser961=) c.1877-336T>C n.870-4254A>G c.2529T>C (p.Ser843=) c.2172T>C (p.Ser724=) n.3384T>C | ClinVar dbSNP |
2 | g.166272834A>T | CA349074906 | SCN1A-AS1,SCN9A | c.2916T>A (p.Ser972Arg) c.2883T>A (p.Ser961Arg) c.1877-336T>A n.870-4254A>T c.2529T>A (p.Ser843Arg) c.2172T>A (p.Ser724Arg) n.3384T>A | |
2 | g.166272835C>A | CA349074911 | SCN1A-AS1,SCN9A | c.2915G>T (p.Ser972Ile) c.2882G>T (p.Ser961Ile) c.1877-337G>T n.870-4253C>A c.2528G>T (p.Ser843Ile) c.2171G>T (p.Ser724Ile) n.3383G>T | |
2 | g.166272835C>G | CA349074912 | SCN1A-AS1,SCN9A | c.2915G>C (p.Ser972Thr) c.2882G>C (p.Ser961Thr) c.1877-337G>C n.870-4253C>G c.2528G>C (p.Ser843Thr) c.2171G>C (p.Ser724Thr) n.3383G>C | |
2 | g.166272835C>T | CA349074913 | SCN1A-AS1,SCN9A | c.2915G>A (p.Ser972Asn) c.2882G>A (p.Ser961Asn) c.1877-337G>A n.870-4253C>T c.2528G>A (p.Ser843Asn) c.2171G>A (p.Ser724Asn) n.3383G>A | ClinVar dbSNP gnomAD v4 |
2 | g.166272836del | CA2577144948 | SCN1A-AS1,SCN9A | c.2914del (p.Ser972ValfsTer21) c.2881del (p.Ser961ValfsTer21) c.1877-338del n.870-4252del c.2527del (p.Ser843ValfsTer21) c.2170del (p.Ser724ValfsTer21) n.3382del | |
2 | g.166272836T>A | CA349074914 | SCN1A-AS1,SCN9A | c.2914A>T (p.Ser972Cys) c.2881A>T (p.Ser961Cys) c.1877-338A>T n.870-4252T>A c.2527A>T (p.Ser843Cys) c.2170A>T (p.Ser724Cys) n.3382A>T | |
2 | g.166272836T>C | CA349074916 | SCN1A-AS1,SCN9A | c.2914A>G (p.Ser972Gly) c.2881A>G (p.Ser961Gly) c.1877-338A>G n.870-4252T>C c.2527A>G (p.Ser843Gly) c.2170A>G (p.Ser724Gly) n.3382A>G | |
2 | g.166272836T>G | CA349074918 | SCN1A-AS1,SCN9A | c.2914A>C (p.Ser972Arg) c.2881A>C (p.Ser961Arg) c.1877-338A>C n.870-4252T>G c.2527A>C (p.Ser843Arg) c.2170A>C (p.Ser724Arg) n.3382A>C | |
2 | g.166272837A>C | CA349074920 | SCN1A-AS1,SCN9A | c.2913T>G (p.Phe971Leu) c.2880T>G (p.Phe960Leu) c.1877-339T>G n.870-4251A>C c.2526T>G (p.Phe842Leu) c.2169T>G (p.Phe723Leu) n.3381T>G | |
2 | g.166272837A>G | CA429978168 | SCN1A-AS1,SCN9A | c.2913T>C (p.Phe971=) c.2880T>C (p.Phe960=) c.1877-339T>C n.870-4251A>G c.2526T>C (p.Phe842=) c.2169T>C (p.Phe723=) n.3381T>C | |
2 | g.166272837A>T | CA349074921 | SCN1A-AS1,SCN9A | c.2913T>A (p.Phe971Leu) c.2880T>A (p.Phe960Leu) c.1877-339T>A n.870-4251A>T c.2526T>A (p.Phe842Leu) c.2169T>A (p.Phe723Leu) n.3381T>A | |
2 | g.166272839del | CA2661766692 | SCN1A-AS1,SCN9A | c.2913del (p.Phe971LeufsTer22) c.2880del (p.Phe960LeufsTer22) c.1877-339del n.870-4249del c.2526del (p.Phe842LeufsTer22) c.2169del (p.Phe723LeufsTer22) n.3381del | gnomAD v4 |
2 | g.166272838A>C | CA349074923 | SCN1A-AS1,SCN9A | c.2912T>G (p.Phe971Cys) c.2879T>G (p.Phe960Cys) c.1877-340T>G n.870-4250A>C c.2525T>G (p.Phe842Cys) c.2168T>G (p.Phe723Cys) n.3380T>G | |
2 | g.166272838A>G | CA349074925 | SCN1A-AS1,SCN9A | c.2912T>C (p.Phe971Ser) c.2879T>C (p.Phe960Ser) c.1877-340T>C n.870-4250A>G c.2525T>C (p.Phe842Ser) c.2168T>C (p.Phe723Ser) n.3380T>C | |
2 | g.166272838A>T | CA349074927 | SCN1A-AS1,SCN9A | c.2912T>A (p.Phe971Tyr) c.2879T>A (p.Phe960Tyr) c.1877-340T>A n.870-4250A>T c.2525T>A (p.Phe842Tyr) c.2168T>A (p.Phe723Tyr) n.3380T>A | |
2 | g.166272839A>C | CA349074932 | SCN1A-AS1,SCN9A | c.2911T>G (p.Phe971Val) c.2878T>G (p.Phe960Val) c.1877-341T>G n.870-4249A>C c.2524T>G (p.Phe842Val) c.2167T>G (p.Phe723Val) n.3379T>G | |
2 | g.166272839A>G | CA349074931 | SCN1A-AS1,SCN9A | c.2911T>C (p.Phe971Leu) c.2878T>C (p.Phe960Leu) c.1877-341T>C n.870-4249A>G c.2524T>C (p.Phe842Leu) c.2167T>C (p.Phe723Leu) n.3379T>C | |
2 | g.166272839A>T | CA349074929 | SCN1A-AS1,SCN9A | c.2911T>A (p.Phe971Ile) c.2878T>A (p.Phe960Ile) c.1877-341T>A n.870-4249A>T c.2524T>A (p.Phe842Ile) c.2167T>A (p.Phe723Ile) n.3379T>A | |
2 | g.166272840T>A | CA429978170 | SCN1A-AS1,SCN9A | c.2910A>T (p.Ser970=) c.2877A>T (p.Ser959=) c.1877-342A>T n.870-4248T>A c.2523A>T (p.Ser841=) c.2166A>T (p.Ser722=) n.3378A>T | |
2 | g.166272840T>C | CA429978171 | SCN1A-AS1,SCN9A | c.2910A>G (p.Ser970=) c.2877A>G (p.Ser959=) c.1877-342A>G n.870-4248T>C c.2523A>G (p.Ser841=) c.2166A>G (p.Ser722=) n.3378A>G | gnomAD v4 |
2 | g.166272840T>G | CA429978172 | SCN1A-AS1,SCN9A | c.2910A>C (p.Ser970=) c.2877A>C (p.Ser959=) c.1877-342A>C n.870-4248T>G c.2523A>C (p.Ser841=) c.2166A>C (p.Ser722=) n.3378A>C | gnomAD v4 |
2 | g.166272841G>A | CA349074934 | SCN1A-AS1,SCN9A | c.2909C>T (p.Ser970Leu) c.2876C>T (p.Ser959Leu) c.1877-343C>T n.870-4247G>A c.2522C>T (p.Ser841Leu) c.2165C>T (p.Ser722Leu) n.3377C>T | ClinVar dbSNP |
2 | g.166272841G>C | CA349074936 | SCN1A-AS1,SCN9A | c.2909C>G (p.Ser970Ter) c.2876C>G (p.Ser959Ter) c.1877-343C>G n.870-4247G>C c.2522C>G (p.Ser841Ter) c.2165C>G (p.Ser722Ter) n.3377C>G | |
2 | g.166272841G>T | CA349074938 | SCN1A-AS1,SCN9A | c.2909C>A (p.Ser970Ter) c.2876C>A (p.Ser959Ter) c.1877-343C>A n.870-4247G>T c.2522C>A (p.Ser841Ter) c.2165C>A (p.Ser722Ter) n.3377C>A | |
2 | g.166272842A>C | CA349074940 | SCN1A-AS1,SCN9A | c.2908T>G (p.Ser970Ala) c.2875T>G (p.Ser959Ala) c.1877-344T>G n.870-4246A>C c.2521T>G (p.Ser841Ala) c.2164T>G (p.Ser722Ala) n.3376T>G | |
2 | g.166272842A>G | CA349074942 | SCN1A-AS1,SCN9A | c.2908T>C (p.Ser970Pro) c.2875T>C (p.Ser959Pro) c.1877-344T>C n.870-4246A>G c.2521T>C (p.Ser841Pro) c.2164T>C (p.Ser722Pro) n.3376T>C | |
2 | g.166272842A>T | CA349074943 | SCN1A-AS1,SCN9A | c.2908T>A (p.Ser970Thr) c.2875T>A (p.Ser959Thr) c.1877-344T>A n.870-4246A>T c.2521T>A (p.Ser841Thr) c.2164T>A (p.Ser722Thr) n.3376T>A | |
2 | g.166272843G>A | CA429978173 | SCN1A-AS1,SCN9A | c.2907C>T (p.Ser969=) c.2874C>T (p.Ser958=) c.1877-345C>T n.870-4245G>A c.2520C>T (p.Ser840=) c.2163C>T (p.Ser721=) n.3375C>T | |
2 | g.166272843G>C | CA349074946 | SCN1A-AS1,SCN9A | c.2907C>G (p.Ser969Arg) c.2874C>G (p.Ser958Arg) c.1877-345C>G n.870-4245G>C c.2520C>G (p.Ser840Arg) c.2163C>G (p.Ser721Arg) n.3375C>G | gnomAD v4 |
2 | g.166272843G>T | CA349074948 | SCN1A-AS1,SCN9A | c.2907C>A (p.Ser969Arg) c.2874C>A (p.Ser958Arg) c.1877-345C>A n.870-4245G>T c.2520C>A (p.Ser840Arg) c.2163C>A (p.Ser721Arg) n.3375C>A | |
2 | g.166272844C>A | CA349074949 | SCN1A-AS1,SCN9A | c.2906G>T (p.Ser969Ile) c.2873G>T (p.Ser958Ile) c.1877-346G>T n.870-4244C>A c.2519G>T (p.Ser840Ile) c.2162G>T (p.Ser721Ile) n.3374G>T | |
2 | g.166272844C= | CA1304962889 | SCN1A-AS1,SCN9A | c.2906G= (p.Ser969=) c.2873G= (p.Ser958=) c.1877-346G= n.870-4244C= c.2519G= (p.Ser840=) c.2162G= (p.Ser721=) n.3374G= | |
2 | g.166272844C>G | CA349074950 | SCN1A-AS1,SCN9A | c.2906G>C (p.Ser969Thr) c.2873G>C (p.Ser958Thr) c.1877-346G>C n.870-4244C>G c.2519G>C (p.Ser840Thr) c.2162G>C (p.Ser721Thr) n.3374G>C | ClinVar dbSNP gnomAD v4 |
2 | g.166272844C>T | CA349074953 | SCN1A-AS1,SCN9A | c.2906G>A (p.Ser969Asn) c.2873G>A (p.Ser958Asn) c.1877-346G>A n.870-4244C>T c.2519G>A (p.Ser840Asn) c.2162G>A (p.Ser721Asn) n.3374G>A | |
2 | g.166272845T>A | CA349074955 | SCN1A-AS1,SCN9A | c.2905A>T (p.Ser969Cys) c.2872A>T (p.Ser958Cys) c.1877-347A>T n.870-4243T>A c.2518A>T (p.Ser840Cys) c.2161A>T (p.Ser721Cys) n.3373A>T | |
2 | g.166272845T>C | CA349074957 | SCN1A-AS1,SCN9A | c.2905A>G (p.Ser969Gly) c.2872A>G (p.Ser958Gly) c.1877-347A>G n.870-4243T>C c.2518A>G (p.Ser840Gly) c.2161A>G (p.Ser721Gly) n.3373A>G | |
2 | g.166272845T>G | CA349074959 | SCN1A-AS1,SCN9A | c.2905A>C (p.Ser969Arg) c.2872A>C (p.Ser958Arg) c.1877-347A>C n.870-4243T>G c.2518A>C (p.Ser840Arg) c.2161A>C (p.Ser721Arg) n.3373A>C | |
2 | g.166272846C>A | CA1944166 | SCN1A-AS1,SCN9A | c.2904G>T (p.Leu968Phe) c.2871G>T (p.Leu957Phe) c.1877-348G>T n.870-4242C>A c.2517G>T (p.Leu839Phe) c.2160G>T (p.Leu720Phe) n.3372G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166272846C= | CA1304962890 | SCN1A-AS1,SCN9A | c.2904G= (p.Leu968=) c.2871G= (p.Leu957=) c.1877-348G= n.870-4242C= c.2517G= (p.Leu839=) c.2160G= (p.Leu720=) n.3372G= | |
2 | g.166272846C>G | CA349074961 | SCN1A-AS1,SCN9A | c.2904G>C (p.Leu968Phe) c.2871G>C (p.Leu957Phe) c.1877-348G>C n.870-4242C>G c.2517G>C (p.Leu839Phe) c.2160G>C (p.Leu720Phe) n.3372G>C | |
2 | g.166272846C>T | CA429978174 | SCN1A-AS1,SCN9A | c.2904G>A (p.Leu968=) c.2871G>A (p.Leu957=) c.1877-348G>A n.870-4242C>T c.2517G>A (p.Leu839=) c.2160G>A (p.Leu720=) n.3372G>A | |
2 | g.166272847A= | CA1304962891 | SCN1A-AS1,SCN9A | c.2903T= (p.Leu968=) c.2870T= (p.Leu957=) c.1877-349T= n.870-4241A= c.2516T= (p.Leu839=) c.2159T= (p.Leu720=) n.3371T= | |
2 | g.166272847A>C | CA349074963 | SCN1A-AS1,SCN9A | c.2903T>G (p.Leu968Trp) c.2870T>G (p.Leu957Trp) c.1877-349T>G n.870-4241A>C c.2516T>G (p.Leu839Trp) c.2159T>G (p.Leu720Trp) n.3371T>G | |
2 | g.166272847A>G | CA349074965 | SCN1A-AS1,SCN9A | c.2903T>C (p.Leu968Ser) c.2870T>C (p.Leu957Ser) c.1877-349T>C n.870-4241A>G c.2516T>C (p.Leu839Ser) c.2159T>C (p.Leu720Ser) n.3371T>C | ClinVar dbSNP |
2 | g.166272847A>T | CA349074967 | SCN1A-AS1,SCN9A | c.2903T>A (p.Leu968Ter) c.2870T>A (p.Leu957Ter) c.1877-349T>A n.870-4241A>T c.2516T>A (p.Leu839Ter) c.2159T>A (p.Leu720Ter) n.3371T>A | dbSNP |
2 | g.166272852_166272854del | CA2586970693 | SCN1A-AS1,SCN9A | c.2901_2903del (p.Leu968del) c.2868_2870del (p.Leu957del) c.1877-351_1877-349del n.870-4236_870-4234del c.2514_2516del (p.Leu839del) c.2157_2159del (p.Leu720del) n.3369_3371del | |
2 | g.166272848A= | CA1304962892 | SCN1A-AS1,SCN9A | c.2902T= (p.Leu968=) c.2869T= (p.Leu957=) c.1877-350T= n.870-4240A= c.2515T= (p.Leu839=) c.2158T= (p.Leu720=) n.3370T= | |
2 | g.166272848A>C | CA349074969 | SCN1A-AS1,SCN9A | c.2902T>G (p.Leu968Val) c.2869T>G (p.Leu957Val) c.1877-350T>G n.870-4240A>C c.2515T>G (p.Leu839Val) c.2158T>G (p.Leu720Val) n.3370T>G | |
2 | g.166272848A>G | CA429978175 | SCN1A-AS1,SCN9A | c.2902T>C (p.Leu968=) c.2869T>C (p.Leu957=) c.1877-350T>C n.870-4240A>G c.2515T>C (p.Leu839=) c.2158T>C (p.Leu720=) n.3370T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166272848A>T | CA349074971 | SCN1A-AS1,SCN9A | c.2902T>A (p.Leu968Met) c.2869T>A (p.Leu957Met) c.1877-350T>A n.870-4240A>T c.2515T>A (p.Leu839Met) c.2158T>A (p.Leu720Met) n.3370T>A | |
2 | g.166272849T>A | CA349074973 | SCN1A-AS1,SCN9A | c.2901A>T (p.Leu967Phe) c.2868A>T (p.Leu956Phe) c.1877-351A>T n.870-4239T>A c.2514A>T (p.Leu838Phe) c.2157A>T (p.Leu719Phe) n.3369A>T | |
2 | g.166272849T>C | CA429978176 | SCN1A-AS1,SCN9A | c.2901A>G (p.Leu967=) c.2868A>G (p.Leu956=) c.1877-351A>G n.870-4239T>C c.2514A>G (p.Leu838=) c.2157A>G (p.Leu719=) n.3369A>G | ClinVar dbSNP gnomAD v4 |
2 | g.166272849T>G | CA349074975 | SCN1A-AS1,SCN9A | c.2901A>C (p.Leu967Phe) c.2868A>C (p.Leu956Phe) c.1877-351A>C n.870-4239T>G c.2514A>C (p.Leu838Phe) c.2157A>C (p.Leu719Phe) n.3369A>C | |
2 | g.166272850A>C | CA349074977 | SCN1A-AS1,SCN9A | c.2900T>G (p.Leu967Ter) c.2867T>G (p.Leu956Ter) c.1877-352T>G n.870-4238A>C c.2513T>G (p.Leu838Ter) c.2156T>G (p.Leu719Ter) n.3368T>G | |
2 | g.166272850A>G | CA349074979 | SCN1A-AS1,SCN9A | c.2900T>C (p.Leu967Ser) c.2867T>C (p.Leu956Ser) c.1877-352T>C n.870-4238A>G c.2513T>C (p.Leu838Ser) c.2156T>C (p.Leu719Ser) n.3368T>C | |
2 | g.166272850A>T | CA349074981 | SCN1A-AS1,SCN9A | c.2900T>A (p.Leu967Ter) c.2867T>A (p.Leu956Ter) c.1877-352T>A n.870-4238A>T c.2513T>A (p.Leu838Ter) c.2156T>A (p.Leu719Ter) n.3368T>A | |
2 | g.166272851A>C | CA349074983 | SCN1A-AS1,SCN9A | c.2899T>G (p.Leu967Val) c.2866T>G (p.Leu956Val) c.1877-353T>G n.870-4237A>C c.2512T>G (p.Leu838Val) c.2155T>G (p.Leu719Val) n.3367T>G | |
2 | g.166272851A>G | CA429978177 | SCN1A-AS1,SCN9A | c.2899T>C (p.Leu967=) c.2866T>C (p.Leu956=) c.1877-353T>C n.870-4237A>G c.2512T>C (p.Leu838=) c.2155T>C (p.Leu719=) n.3367T>C | gnomAD v4 |
2 | g.166272851A>T | CA349074985 | SCN1A-AS1,SCN9A | c.2899T>A (p.Leu967Ile) c.2866T>A (p.Leu956Ile) c.1877-353T>A n.870-4237A>T c.2512T>A (p.Leu838Ile) c.2155T>A (p.Leu719Ile) n.3367T>A | |
2 | g.166272852T>A | CA349074987 | SCN1A-AS1,SCN9A | c.2898A>T (p.Leu966Phe) c.2865A>T (p.Leu955Phe) c.1877-354A>T n.870-4236T>A c.2511A>T (p.Leu837Phe) c.2154A>T (p.Leu718Phe) n.3366A>T | |
2 | g.166272852T>C | CA429978178 | SCN1A-AS1,SCN9A | c.2898A>G (p.Leu966=) c.2865A>G (p.Leu955=) c.1877-354A>G n.870-4236T>C c.2511A>G (p.Leu837=) c.2154A>G (p.Leu718=) n.3366A>G | gnomAD v4 |
2 | g.166272852T>G | CA349074989 | SCN1A-AS1,SCN9A | c.2898A>C (p.Leu966Phe) c.2865A>C (p.Leu955Phe) c.1877-354A>C n.870-4236T>G c.2511A>C (p.Leu837Phe) c.2154A>C (p.Leu718Phe) n.3366A>C | |
2 | g.166272853A>C | CA349074992 | SCN1A-AS1,SCN9A | c.2897T>G (p.Leu966Ter) c.2864T>G (p.Leu955Ter) c.1877-355T>G n.870-4235A>C c.2510T>G (p.Leu837Ter) c.2153T>G (p.Leu718Ter) n.3365T>G | |
2 | g.166272853A>G | CA349074995 | SCN1A-AS1,SCN9A | c.2897T>C (p.Leu966Ser) c.2864T>C (p.Leu955Ser) c.1877-355T>C n.870-4235A>G c.2510T>C (p.Leu837Ser) c.2153T>C (p.Leu718Ser) n.3365T>C | |
2 | g.166272853A>T | CA349074993 | SCN1A-AS1,SCN9A | c.2897T>A (p.Leu966Ter) c.2864T>A (p.Leu955Ter) c.1877-355T>A n.870-4235A>T c.2510T>A (p.Leu837Ter) c.2153T>A (p.Leu718Ter) n.3365T>A |