| 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.165386783A>C | CA349036229 | SCN2A | c.4589A>C (p.Lys1530Thr) c.*2908A>C (n.*2908A>C) c.*2576A>C (n.*2576A>C) c.*5112A>C (n.*5112A>C) c.*2531A>C (n.*2531A>C) c.4193A>C (p.Lys1398Thr) n.8020A>C c.4559A>C (p.Lys1520Thr) c.3836A>C (p.Lys1279Thr) c.2387A>C (p.Lys796Thr) | |
| 2 | g.165386783A>G | CA349036230 | SCN2A | c.4589A>G (p.Lys1530Arg) c.*2908A>G (n.*2908A>G) c.*2576A>G (n.*2576A>G) c.*5112A>G (n.*5112A>G) c.*2531A>G (n.*2531A>G) c.4193A>G (p.Lys1398Arg) n.8020A>G c.4559A>G (p.Lys1520Arg) c.3836A>G (p.Lys1279Arg) c.2387A>G (p.Lys796Arg) | |
| 2 | g.165386783A>T | CA349036231 | SCN2A | c.4589A>T (p.Lys1530Ile) c.*2908A>T (n.*2908A>T) c.*2576A>T (n.*2576A>T) c.*5112A>T (n.*5112A>T) c.*2531A>T (n.*2531A>T) c.4193A>T (p.Lys1398Ile) n.8020A>T c.4559A>T (p.Lys1520Ile) c.3836A>T (p.Lys1279Ile) c.2387A>T (p.Lys796Ile) | |
| 2 | g.165386784A= | CA1304563747 | SCN2A | c.4590A= (p.Lys1530=) c.*2909A= (n.*2909A=) c.*2577A= (n.*2577A=) c.*5113A= (n.*5113A=) c.*2532A= (n.*2532A=) c.4194A= (p.Lys1398=) n.8021A= c.4560A= (p.Lys1520=) c.3837A= (p.Lys1279=) c.2388A= (p.Lys796=) | |
| 2 | g.165386784A>C | CA349036232 | SCN2A | c.4590A>C (p.Lys1530Asn) c.*2909A>C (n.*2909A>C) c.*2577A>C (n.*2577A>C) c.*5113A>C (n.*5113A>C) c.*2532A>C (n.*2532A>C) c.4194A>C (p.Lys1398Asn) n.8021A>C c.4560A>C (p.Lys1520Asn) c.3837A>C (p.Lys1279Asn) c.2388A>C (p.Lys796Asn) | |
| 2 | g.165386784A>G | CA429972457 | SCN2A | c.4590A>G (p.Lys1530=) c.*2909A>G (n.*2909A>G) c.*2577A>G (n.*2577A>G) c.*5113A>G (n.*5113A>G) c.*2532A>G (n.*2532A>G) c.4194A>G (p.Lys1398=) n.8021A>G c.4560A>G (p.Lys1520=) c.3837A>G (p.Lys1279=) c.2388A>G (p.Lys796=) | dbSNP |
| 2 | g.165386784A>T | CA349036233 | SCN2A | c.4590A>T (p.Lys1530Asn) c.*2909A>T (n.*2909A>T) c.*2577A>T (n.*2577A>T) c.*5113A>T (n.*5113A>T) c.*2532A>T (n.*2532A>T) c.4194A>T (p.Lys1398Asn) n.8021A>T c.4560A>T (p.Lys1520Asn) c.3837A>T (p.Lys1279Asn) c.2388A>T (p.Lys796Asn) | |
| 2 | g.165386785C>A | CA349036234 | SCN2A | c.4591C>A (p.Gln1531Lys) c.*2910C>A (n.*2910C>A) c.*2578C>A (n.*2578C>A) c.*5114C>A (n.*5114C>A) c.*2533C>A (n.*2533C>A) c.4195C>A (p.Gln1399Lys) n.8022C>A c.4561C>A (p.Gln1521Lys) c.3838C>A (p.Gln1280Lys) c.2389C>A (p.Gln797Lys) | |
| 2 | g.165386785C= | CA1304563748 | SCN2A | c.4591C= (p.Gln1531=) c.*2910C= (n.*2910C=) c.*2578C= (n.*2578C=) c.*5114C= (n.*5114C=) c.*2533C= (n.*2533C=) c.4195C= (p.Gln1399=) n.8022C= c.4561C= (p.Gln1521=) c.3838C= (p.Gln1280=) c.2389C= (p.Gln797=) | |
| 2 | g.165386785C>G | CA349036235 | SCN2A | c.4591C>G (p.Gln1531Glu) c.*2910C>G (n.*2910C>G) c.*2578C>G (n.*2578C>G) c.*5114C>G (n.*5114C>G) c.*2533C>G (n.*2533C>G) c.4195C>G (p.Gln1399Glu) n.8022C>G c.4561C>G (p.Gln1521Glu) c.3838C>G (p.Gln1280Glu) c.2389C>G (p.Gln797Glu) | |
| 2 | g.165386785C>T | CA349036236 | SCN2A | c.4591C>T (p.Gln1531Ter) c.*2910C>T (n.*2910C>T) c.*2578C>T (n.*2578C>T) c.*5114C>T (n.*5114C>T) c.*2533C>T (n.*2533C>T) c.4195C>T (p.Gln1399Ter) n.8022C>T c.4561C>T (p.Gln1521Ter) c.3838C>T (p.Gln1280Ter) c.2389C>T (p.Gln797Ter) | ClinVar dbSNP |
| 2 | g.165386786A>C | CA349036237 | SCN2A | c.4592A>C (p.Gln1531Pro) c.*2911A>C (n.*2911A>C) c.*2579A>C (n.*2579A>C) c.*5115A>C (n.*5115A>C) c.*2534A>C (n.*2534A>C) c.4196A>C (p.Gln1399Pro) n.8023A>C c.4562A>C (p.Gln1521Pro) c.3839A>C (p.Gln1280Pro) c.2390A>C (p.Gln797Pro) | |
| 2 | g.165386786A>G | CA349036238 | SCN2A | c.4592A>G (p.Gln1531Arg) c.*2911A>G (n.*2911A>G) c.*2579A>G (n.*2579A>G) c.*5115A>G (n.*5115A>G) c.*2534A>G (n.*2534A>G) c.4196A>G (p.Gln1399Arg) n.8023A>G c.4562A>G (p.Gln1521Arg) c.3839A>G (p.Gln1280Arg) c.2390A>G (p.Gln797Arg) | |
| 2 | g.165386786A>T | CA349036239 | SCN2A | c.4592A>T (p.Gln1531Leu) c.*2911A>T (n.*2911A>T) c.*2579A>T (n.*2579A>T) c.*5115A>T (n.*5115A>T) c.*2534A>T (n.*2534A>T) c.4196A>T (p.Gln1399Leu) n.8023A>T c.4562A>T (p.Gln1521Leu) c.3839A>T (p.Gln1280Leu) c.2390A>T (p.Gln797Leu) | |
| 2 | g.165386787A>C | CA349036241 | SCN2A | c.4593A>C (p.Gln1531His) c.*2912A>C (n.*2912A>C) c.*2580A>C (n.*2580A>C) c.*5116A>C (n.*5116A>C) c.*2535A>C (n.*2535A>C) c.4197A>C (p.Gln1399His) n.8024A>C c.4563A>C (p.Gln1521His) c.3840A>C (p.Gln1280His) c.2391A>C (p.Gln797His) | |
| 2 | g.165386787A>G | CA429972468 | SCN2A | c.4593A>G (p.Gln1531=) c.*2912A>G (n.*2912A>G) c.*2580A>G (n.*2580A>G) c.*5116A>G (n.*5116A>G) c.*2535A>G (n.*2535A>G) c.4197A>G (p.Gln1399=) n.8024A>G c.4563A>G (p.Gln1521=) c.3840A>G (p.Gln1280=) c.2391A>G (p.Gln797=) | |
| 2 | g.165386787A>T | CA349036240 | SCN2A | c.4593A>T (p.Gln1531His) c.*2912A>T (n.*2912A>T) c.*2580A>T (n.*2580A>T) c.*5116A>T (n.*5116A>T) c.*2535A>T (n.*2535A>T) c.4197A>T (p.Gln1399His) n.8024A>T c.4563A>T (p.Gln1521His) c.3840A>T (p.Gln1280His) c.2391A>T (p.Gln797His) | 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) |