| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165386773_165386796del | CA2573130278 | SCN2A | c.4579_4602del (p.Phe1527_Asp1534del) c.*2898_*2921del (n.*2898_*2921del) c.*2566_*2589del (n.*2566_*2589del) c.*5102_*5125del (n.*5102_*5125del) c.*2521_*2544del (n.*2521_*2544del) c.4183_4206del (p.Phe1395_Asp1402del) n.8010_8033del c.4549_4572del (p.Phe1517_Asp1524del) c.3826_3849del (p.Phe1276_Asp1283del) c.2377_2400del (p.Phe793_Asp800del) | ClinVar dbSNP |
| 2 | g.165386788G>A | CA349036242 | SCN2A | c.4594G>A (p.Val1532Ile) c.*2913G>A (n.*2913G>A) c.*2581G>A (n.*2581G>A) c.*5117G>A (n.*5117G>A) c.*2536G>A (n.*2536G>A) c.4198G>A (p.Val1400Ile) n.8025G>A c.4564G>A (p.Val1522Ile) c.3841G>A (p.Val1281Ile) c.2392G>A (p.Val798Ile) | |
| 2 | g.165386788G>C | CA349036243 | SCN2A | c.4594G>C (p.Val1532Leu) c.*2913G>C (n.*2913G>C) c.*2581G>C (n.*2581G>C) c.*5117G>C (n.*5117G>C) c.*2536G>C (n.*2536G>C) c.4198G>C (p.Val1400Leu) n.8025G>C c.4564G>C (p.Val1522Leu) c.3841G>C (p.Val1281Leu) c.2392G>C (p.Val798Leu) | |
| 2 | g.165386788G>T | CA349036244 | SCN2A | c.4594G>T (p.Val1532Phe) c.*2913G>T (n.*2913G>T) c.*2581G>T (n.*2581G>T) c.*5117G>T (n.*5117G>T) c.*2536G>T (n.*2536G>T) c.4198G>T (p.Val1400Phe) n.8025G>T c.4564G>T (p.Val1522Phe) c.3841G>T (p.Val1281Phe) c.2392G>T (p.Val798Phe) | |
| 2 | g.165386789T>A | CA349036245 | SCN2A | c.4595T>A (p.Val1532Asp) c.*2914T>A (n.*2914T>A) c.*2582T>A (n.*2582T>A) c.*5118T>A (n.*5118T>A) c.*2537T>A (n.*2537T>A) c.4199T>A (p.Val1400Asp) n.8026T>A c.4565T>A (p.Val1522Asp) c.3842T>A (p.Val1281Asp) c.2393T>A (p.Val798Asp) | |
| 2 | g.165386789T>C | CA349036246 | SCN2A | c.4595T>C (p.Val1532Ala) c.*2914T>C (n.*2914T>C) c.*2582T>C (n.*2582T>C) c.*5118T>C (n.*5118T>C) c.*2537T>C (n.*2537T>C) c.4199T>C (p.Val1400Ala) n.8026T>C c.4565T>C (p.Val1522Ala) c.3842T>C (p.Val1281Ala) c.2393T>C (p.Val798Ala) | gnomAD v4 |
| 2 | g.165386789T>G | CA349036247 | SCN2A | c.4595T>G (p.Val1532Gly) c.*2914T>G (n.*2914T>G) c.*2582T>G (n.*2582T>G) c.*5118T>G (n.*5118T>G) c.*2537T>G (n.*2537T>G) c.4199T>G (p.Val1400Gly) n.8026T>G c.4565T>G (p.Val1522Gly) c.3842T>G (p.Val1281Gly) c.2393T>G (p.Val798Gly) | |
| 2 | g.165386790del | CA2580614379 | SCN2A | c.4596del (p.Phe1533LeufsTer6) c.*2915del (n.*2915del) c.*2583del (n.*2583del) c.*5119del (n.*5119del) c.*2538del (n.*2538del) c.4200del (p.Phe1401LeufsTer6) n.8027del c.4566del (p.Phe1523LeufsTer6) c.3843del (p.Phe1282LeufsTer6) c.2394del (p.Phe799LeufsTer6) | ClinVar |
| 2 | g.165386790C>A | CA1940305 | SCN2A | c.4596C>A (p.Val1532=) c.*2915C>A (n.*2915C>A) c.*2583C>A (n.*2583C>A) c.*5119C>A (n.*5119C>A) c.*2538C>A (n.*2538C>A) c.4200C>A (p.Val1400=) n.8027C>A c.4566C>A (p.Val1522=) c.3843C>A (p.Val1281=) c.2394C>A (p.Val798=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.165386790C= | CA1304563749 | SCN2A | c.4596C= (p.Val1532=) c.*2915C= (n.*2915C=) c.*2583C= (n.*2583C=) c.*5119C= (n.*5119C=) c.*2538C= (n.*2538C=) c.4200C= (p.Val1400=) n.8027C= c.4566C= (p.Val1522=) c.3843C= (p.Val1281=) c.2394C= (p.Val798=) | |
| 2 | g.165386790C>G | CA429972471 | SCN2A | c.4596C>G (p.Val1532=) c.*2915C>G (n.*2915C>G) c.*2583C>G (n.*2583C>G) c.*5119C>G (n.*5119C>G) c.*2538C>G (n.*2538C>G) c.4200C>G (p.Val1400=) n.8027C>G c.4566C>G (p.Val1522=) c.3843C>G (p.Val1281=) c.2394C>G (p.Val798=) | ClinVar dbSNP |
| 2 | g.165386790C>T | CA429972473 | SCN2A | c.4596C>T (p.Val1532=) c.*2915C>T (n.*2915C>T) c.*2583C>T (n.*2583C>T) c.*5119C>T (n.*5119C>T) c.*2538C>T (n.*2538C>T) c.4200C>T (p.Val1400=) n.8027C>T c.4566C>T (p.Val1522=) c.3843C>T (p.Val1281=) c.2394C>T (p.Val798=) | COSMIC COSMIC |
| 2 | g.165386791T>A | CA349036248 | SCN2A | c.4597T>A (p.Phe1533Ile) c.*2916T>A (n.*2916T>A) c.*2584T>A (n.*2584T>A) c.*5120T>A (n.*5120T>A) c.*2539T>A (n.*2539T>A) c.4201T>A (p.Phe1401Ile) n.8028T>A c.4567T>A (p.Phe1523Ile) c.3844T>A (p.Phe1282Ile) c.2395T>A (p.Phe799Ile) | |
| 2 | g.165386791T>C | CA349036249 | SCN2A | c.4597T>C (p.Phe1533Leu) c.*2916T>C (n.*2916T>C) c.*2584T>C (n.*2584T>C) c.*5120T>C (n.*5120T>C) c.*2539T>C (n.*2539T>C) c.4201T>C (p.Phe1401Leu) n.8028T>C c.4567T>C (p.Phe1523Leu) c.3844T>C (p.Phe1282Leu) c.2395T>C (p.Phe799Leu) | |
| 2 | g.165386791T>G | CA349036250 | SCN2A | c.4597T>G (p.Phe1533Val) c.*2916T>G (n.*2916T>G) c.*2584T>G (n.*2584T>G) c.*5120T>G (n.*5120T>G) c.*2539T>G (n.*2539T>G) c.4201T>G (p.Phe1401Val) n.8028T>G c.4567T>G (p.Phe1523Val) c.3844T>G (p.Phe1282Val) c.2395T>G (p.Phe799Val) | dbSNP |
| 2 | g.165386791T= | CA1304563750 | SCN2A | c.4597T= (p.Phe1533=) c.*2916T= (n.*2916T=) c.*2584T= (n.*2584T=) c.*5120T= (n.*5120T=) c.*2539T= (n.*2539T=) c.4201T= (p.Phe1401=) n.8028T= c.4567T= (p.Phe1523=) c.3844T= (p.Phe1282=) c.2395T= (p.Phe799=) | |
| 2 | g.165386792T>A | CA349036251 | SCN2A | c.4598T>A (p.Phe1533Tyr) c.*2917T>A (n.*2917T>A) c.*2585T>A (n.*2585T>A) c.*5121T>A (n.*5121T>A) c.*2540T>A (n.*2540T>A) c.4202T>A (p.Phe1401Tyr) n.8029T>A c.4568T>A (p.Phe1523Tyr) c.3845T>A (p.Phe1282Tyr) c.2396T>A (p.Phe799Tyr) | |
| 2 | g.165386792T>C | CA349036252 | SCN2A | c.4598T>C (p.Phe1533Ser) c.*2917T>C (n.*2917T>C) c.*2585T>C (n.*2585T>C) c.*5121T>C (n.*5121T>C) c.*2540T>C (n.*2540T>C) c.4202T>C (p.Phe1401Ser) n.8029T>C c.4568T>C (p.Phe1523Ser) c.3845T>C (p.Phe1282Ser) c.2396T>C (p.Phe799Ser) | |
| 2 | g.165386792T>G | CA349036253 | SCN2A | c.4598T>G (p.Phe1533Cys) c.*2917T>G (n.*2917T>G) c.*2585T>G (n.*2585T>G) c.*5121T>G (n.*5121T>G) c.*2540T>G (n.*2540T>G) c.4202T>G (p.Phe1401Cys) n.8029T>G c.4568T>G (p.Phe1523Cys) c.3845T>G (p.Phe1282Cys) c.2396T>G (p.Phe799Cys) | |
| 2 | g.165386793T>A | CA349036255 | SCN2A | c.4599T>A (p.Phe1533Leu) c.*2918T>A (n.*2918T>A) c.*2586T>A (n.*2586T>A) c.*5122T>A (n.*5122T>A) c.*2541T>A (n.*2541T>A) c.4203T>A (p.Phe1401Leu) n.8030T>A c.4569T>A (p.Phe1523Leu) c.3846T>A (p.Phe1282Leu) c.2397T>A (p.Phe799Leu) | |
| 2 | g.165386793T>C | CA429972481 | SCN2A | c.4599T>C (p.Phe1533=) c.*2918T>C (n.*2918T>C) c.*2586T>C (n.*2586T>C) c.*5122T>C (n.*5122T>C) c.*2541T>C (n.*2541T>C) c.4203T>C (p.Phe1401=) n.8030T>C c.4569T>C (p.Phe1523=) c.3846T>C (p.Phe1282=) c.2397T>C (p.Phe799=) | |
| 2 | g.165386793T>G | CA349036254 | SCN2A | c.4599T>G (p.Phe1533Leu) c.*2918T>G (n.*2918T>G) c.*2586T>G (n.*2586T>G) c.*5122T>G (n.*5122T>G) c.*2541T>G (n.*2541T>G) c.4203T>G (p.Phe1401Leu) n.8030T>G c.4569T>G (p.Phe1523Leu) c.3846T>G (p.Phe1282Leu) c.2397T>G (p.Phe799Leu) | |
| 2 | g.165386794G>A | CA349036256 | SCN2A | c.4600G>A (p.Asp1534Asn) c.*2919G>A (n.*2919G>A) c.*2587G>A (n.*2587G>A) c.*5123G>A (n.*5123G>A) c.*2542G>A (n.*2542G>A) c.4204G>A (p.Asp1402Asn) n.8031G>A c.4570G>A (p.Asp1524Asn) c.3847G>A (p.Asp1283Asn) c.2398G>A (p.Asp800Asn) | |
| 2 | g.165386794G>C | CA349036257 | SCN2A | c.4600G>C (p.Asp1534His) c.*2919G>C (n.*2919G>C) c.*2587G>C (n.*2587G>C) c.*5123G>C (n.*5123G>C) c.*2542G>C (n.*2542G>C) c.4204G>C (p.Asp1402His) n.8031G>C c.4570G>C (p.Asp1524His) c.3847G>C (p.Asp1283His) c.2398G>C (p.Asp800His) | |
| 2 | g.165386794G>T | CA349036258 | SCN2A | c.4600G>T (p.Asp1534Tyr) c.*2919G>T (n.*2919G>T) c.*2587G>T (n.*2587G>T) c.*5123G>T (n.*5123G>T) c.*2542G>T (n.*2542G>T) c.4204G>T (p.Asp1402Tyr) n.8031G>T c.4570G>T (p.Asp1524Tyr) c.3847G>T (p.Asp1283Tyr) c.2398G>T (p.Asp800Tyr) | |
| 2 | g.165386795A>C | CA349036259 | SCN2A | c.4601A>C (p.Asp1534Ala) c.*2920A>C (n.*2920A>C) c.*2588A>C (n.*2588A>C) c.*5124A>C (n.*5124A>C) c.*2543A>C (n.*2543A>C) c.4205A>C (p.Asp1402Ala) n.8032A>C c.4571A>C (p.Asp1524Ala) c.3848A>C (p.Asp1283Ala) c.2399A>C (p.Asp800Ala) | |
| 2 | g.165386795A>G | CA349036260 | SCN2A | c.4601A>G (p.Asp1534Gly) c.*2920A>G (n.*2920A>G) c.*2588A>G (n.*2588A>G) c.*5124A>G (n.*5124A>G) c.*2543A>G (n.*2543A>G) c.4205A>G (p.Asp1402Gly) n.8032A>G c.4571A>G (p.Asp1524Gly) c.3848A>G (p.Asp1283Gly) c.2399A>G (p.Asp800Gly) | |
| 2 | g.165386795A>T | CA349036261 | SCN2A | c.4601A>T (p.Asp1534Val) c.*2920A>T (n.*2920A>T) c.*2588A>T (n.*2588A>T) c.*5124A>T (n.*5124A>T) c.*2543A>T (n.*2543A>T) c.4205A>T (p.Asp1402Val) n.8032A>T c.4571A>T (p.Asp1524Val) c.3848A>T (p.Asp1283Val) c.2399A>T (p.Asp800Val) | |
| 2 | g.165386796T>A | CA349036262 | SCN2A | c.4602T>A (p.Asp1534Glu) c.*2921T>A (n.*2921T>A) c.*2589T>A (n.*2589T>A) c.*5125T>A (n.*5125T>A) c.*2544T>A (n.*2544T>A) c.4206T>A (p.Asp1402Glu) n.8033T>A c.4572T>A (p.Asp1524Glu) c.3849T>A (p.Asp1283Glu) c.2400T>A (p.Asp800Glu) | |
| 2 | g.165386796T>C | CA429972485 | SCN2A | c.4602T>C (p.Asp1534=) c.*2921T>C (n.*2921T>C) c.*2589T>C (n.*2589T>C) c.*5125T>C (n.*5125T>C) c.*2544T>C (n.*2544T>C) c.4206T>C (p.Asp1402=) n.8033T>C c.4572T>C (p.Asp1524=) c.3849T>C (p.Asp1283=) c.2400T>C (p.Asp800=) | gnomAD v4 |
| 2 | g.165386796T>G | CA349036263 | SCN2A | c.4602T>G (p.Asp1534Glu) c.*2921T>G (n.*2921T>G) c.*2589T>G (n.*2589T>G) c.*5125T>G (n.*5125T>G) c.*2544T>G (n.*2544T>G) c.4206T>G (p.Asp1402Glu) n.8033T>G c.4572T>G (p.Asp1524Glu) c.3849T>G (p.Asp1283Glu) c.2400T>G (p.Asp800Glu) | |
| 2 | g.165386797A= | CA1304563751 | SCN2A | c.4603A= (p.Ile1535=) c.*2922A= (n.*2922A=) c.*2590A= (n.*2590A=) c.*5126A= (n.*5126A=) c.*2545A= (n.*2545A=) c.4207A= (p.Ile1403=) n.8034A= c.4573A= (p.Ile1525=) c.3850A= (p.Ile1284=) c.2401A= (p.Ile801=) | |
| 2 | g.165386797A>C | CA349036264 | SCN2A | c.4603A>C (p.Ile1535Leu) c.*2922A>C (n.*2922A>C) c.*2590A>C (n.*2590A>C) c.*5126A>C (n.*5126A>C) c.*2545A>C (n.*2545A>C) c.4207A>C (p.Ile1403Leu) n.8034A>C c.4573A>C (p.Ile1525Leu) c.3850A>C (p.Ile1284Leu) c.2401A>C (p.Ile801Leu) | |
| 2 | g.165386797A>G | CA349036266 | SCN2A | c.4603A>G (p.Ile1535Val) c.*2922A>G (n.*2922A>G) c.*2590A>G (n.*2590A>G) c.*5126A>G (n.*5126A>G) c.*2545A>G (n.*2545A>G) c.4207A>G (p.Ile1403Val) n.8034A>G c.4573A>G (p.Ile1525Val) c.3850A>G (p.Ile1284Val) c.2401A>G (p.Ile801Val) | ClinVar dbSNP |
| 2 | g.165386797A>T | CA349036265 | SCN2A | c.4603A>T (p.Ile1535Phe) c.*2922A>T (n.*2922A>T) c.*2590A>T (n.*2590A>T) c.*5126A>T (n.*5126A>T) c.*2545A>T (n.*2545A>T) c.4207A>T (p.Ile1403Phe) n.8034A>T c.4573A>T (p.Ile1525Phe) c.3850A>T (p.Ile1284Phe) c.2401A>T (p.Ile801Phe) | |
| 2 | g.165386798T>A | CA349036267 | SCN2A | c.4604T>A (p.Ile1535Asn) c.*2923T>A (n.*2923T>A) c.*2591T>A (n.*2591T>A) c.*5127T>A (n.*5127T>A) c.*2546T>A (n.*2546T>A) c.4208T>A (p.Ile1403Asn) n.8035T>A c.4574T>A (p.Ile1525Asn) c.3851T>A (p.Ile1284Asn) c.2402T>A (p.Ile801Asn) | |
| 2 | g.165386798T>C | CA349036268 | SCN2A | c.4604T>C (p.Ile1535Thr) c.*2923T>C (n.*2923T>C) c.*2591T>C (n.*2591T>C) c.*5127T>C (n.*5127T>C) c.*2546T>C (n.*2546T>C) c.4208T>C (p.Ile1403Thr) n.8035T>C c.4574T>C (p.Ile1525Thr) c.3851T>C (p.Ile1284Thr) c.2402T>C (p.Ile801Thr) | |
| 2 | g.165386798T>G | CA349036269 | SCN2A | c.4604T>G (p.Ile1535Ser) c.*2923T>G (n.*2923T>G) c.*2591T>G (n.*2591T>G) c.*5127T>G (n.*5127T>G) c.*2546T>G (n.*2546T>G) c.4208T>G (p.Ile1403Ser) n.8035T>G c.4574T>G (p.Ile1525Ser) c.3851T>G (p.Ile1284Ser) c.2402T>G (p.Ile801Ser) | |
| 2 | g.165386799C>A | CA429972490 | SCN2A | c.4605C>A (p.Ile1535=) c.*2924C>A (n.*2924C>A) c.*2592C>A (n.*2592C>A) c.*5128C>A (n.*5128C>A) c.*2547C>A (n.*2547C>A) c.4209C>A (p.Ile1403=) n.8036C>A c.4575C>A (p.Ile1525=) c.3852C>A (p.Ile1284=) c.2403C>A (p.Ile801=) | |
| 2 | g.165386799C>G | CA349036270 | SCN2A | c.4605C>G (p.Ile1535Met) c.*2924C>G (n.*2924C>G) c.*2592C>G (n.*2592C>G) c.*5128C>G (n.*5128C>G) c.*2547C>G (n.*2547C>G) c.4209C>G (p.Ile1403Met) n.8036C>G c.4575C>G (p.Ile1525Met) c.3852C>G (p.Ile1284Met) c.2403C>G (p.Ile801Met) | |
| 2 | g.165386799C>T | CA429972491 | SCN2A | c.4605C>T (p.Ile1535=) c.*2924C>T (n.*2924C>T) c.*2592C>T (n.*2592C>T) c.*5128C>T (n.*5128C>T) c.*2547C>T (n.*2547C>T) c.4209C>T (p.Ile1403=) n.8036C>T c.4575C>T (p.Ile1525=) c.3852C>T (p.Ile1284=) c.2403C>T (p.Ile801=) | |
| 2 | g.165386800A= | CA1304563752 | SCN2A | c.4606A= (p.Ser1536=) c.*2925A= (n.*2925A=) c.*2593A= (n.*2593A=) c.*5129A= (n.*5129A=) c.*2548A= (n.*2548A=) c.4210A= (p.Ser1404=) n.8037A= c.4576A= (p.Ser1526=) c.3853A= (p.Ser1285=) c.2404A= (p.Ser802=) | |
| 2 | g.165386800A>C | CA349036271 | SCN2A | c.4606A>C (p.Ser1536Arg) c.*2925A>C (n.*2925A>C) c.*2593A>C (n.*2593A>C) c.*5129A>C (n.*5129A>C) c.*2548A>C (n.*2548A>C) c.4210A>C (p.Ser1404Arg) n.8037A>C c.4576A>C (p.Ser1526Arg) c.3853A>C (p.Ser1285Arg) c.2404A>C (p.Ser802Arg) | |
| 2 | g.165386800A>G | CA349036273 | SCN2A | c.4606A>G (p.Ser1536Gly) c.*2925A>G (n.*2925A>G) c.*2593A>G (n.*2593A>G) c.*5129A>G (n.*5129A>G) c.*2548A>G (n.*2548A>G) c.4210A>G (p.Ser1404Gly) n.8037A>G c.4576A>G (p.Ser1526Gly) c.3853A>G (p.Ser1285Gly) c.2404A>G (p.Ser802Gly) | ClinVar dbSNP |
| 2 | g.165386800A>T | CA349036272 | SCN2A | c.4606A>T (p.Ser1536Cys) c.*2925A>T (n.*2925A>T) c.*2593A>T (n.*2593A>T) c.*5129A>T (n.*5129A>T) c.*2548A>T (n.*2548A>T) c.4210A>T (p.Ser1404Cys) n.8037A>T c.4576A>T (p.Ser1526Cys) c.3853A>T (p.Ser1285Cys) c.2404A>T (p.Ser802Cys) | |
| 2 | g.165386801G>A | CA59750878 | SCN2A | c.4607G>A (p.Ser1536Asn) c.*2926G>A (n.*2926G>A) c.*2594G>A (n.*2594G>A) c.*5130G>A (n.*5130G>A) c.*2549G>A (n.*2549G>A) c.4211G>A (p.Ser1404Asn) n.8038G>A c.4577G>A (p.Ser1526Asn) c.3854G>A (p.Ser1285Asn) c.2405G>A (p.Ser802Asn) | ClinVar dbSNP |
| 2 | g.165386801G>C | CA349036274 | SCN2A | c.4607G>C (p.Ser1536Thr) c.*2926G>C (n.*2926G>C) c.*2594G>C (n.*2594G>C) c.*5130G>C (n.*5130G>C) c.*2549G>C (n.*2549G>C) c.4211G>C (p.Ser1404Thr) n.8038G>C c.4577G>C (p.Ser1526Thr) c.3854G>C (p.Ser1285Thr) c.2405G>C (p.Ser802Thr) | |
| 2 | g.165386801G= | CA1304563753 | SCN2A | c.4607G= (p.Ser1536=) c.*2926G= (n.*2926G=) c.*2594G= (n.*2594G=) c.*5130G= (n.*5130G=) c.*2549G= (n.*2549G=) c.4211G= (p.Ser1404=) n.8038G= c.4577G= (p.Ser1526=) c.3854G= (p.Ser1285=) c.2405G= (p.Ser802=) | |
| 2 | g.165386801G>T | CA349036275 | SCN2A | c.4607G>T (p.Ser1536Ile) c.*2926G>T (n.*2926G>T) c.*2594G>T (n.*2594G>T) c.*5130G>T (n.*5130G>T) c.*2549G>T (n.*2549G>T) c.4211G>T (p.Ser1404Ile) n.8038G>T c.4577G>T (p.Ser1526Ile) c.3854G>T (p.Ser1285Ile) c.2405G>T (p.Ser802Ile) | |
| 2 | g.165386802C>A | CA349036276 | SCN2A | c.4608C>A (p.Ser1536Arg) c.*2927C>A (n.*2927C>A) c.*2595C>A (n.*2595C>A) c.*5131C>A (n.*5131C>A) c.*2550C>A (n.*2550C>A) c.4212C>A (p.Ser1404Arg) n.8039C>A c.4578C>A (p.Ser1526Arg) c.3855C>A (p.Ser1285Arg) c.2406C>A (p.Ser802Arg) |