| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165388667T>A | CA349037625 | SCN2A | c.4861T>A (p.Ser1621Thr) c.*3180T>A (n.*3180T>A) c.*2848T>A (n.*2848T>A) c.*5384T>A (n.*5384T>A) c.*2803T>A (n.*2803T>A) c.4465T>A (p.Ser1489Thr) n.8292T>A c.4831T>A (p.Ser1611Thr) c.4108T>A (p.Ser1370Thr) c.2659T>A (p.Ser887Thr) | |
| 2 | g.165388667T>C | CA16042357 | SCN2A | c.4861T>C (p.Ser1621Pro) c.*3180T>C (n.*3180T>C) c.*2848T>C (n.*2848T>C) c.*5384T>C (n.*5384T>C) c.*2803T>C (n.*2803T>C) c.4465T>C (p.Ser1489Pro) n.8292T>C c.4831T>C (p.Ser1611Pro) c.4108T>C (p.Ser1370Pro) c.2659T>C (p.Ser887Pro) | ClinVar dbSNP |
| 2 | g.165388667T>G | CA349037623 | SCN2A | c.4861T>G (p.Ser1621Ala) c.*3180T>G (n.*3180T>G) c.*2848T>G (n.*2848T>G) c.*5384T>G (n.*5384T>G) c.*2803T>G (n.*2803T>G) c.4465T>G (p.Ser1489Ala) n.8292T>G c.4831T>G (p.Ser1611Ala) c.4108T>G (p.Ser1370Ala) c.2659T>G (p.Ser887Ala) | |
| 2 | g.165388667T= | CA1304564729 | SCN2A | c.4861T= (p.Ser1621=) c.*3180T= (n.*3180T=) c.*2848T= (n.*2848T=) c.*5384T= (n.*5384T=) c.*2803T= (n.*2803T=) c.4465T= (p.Ser1489=) n.8292T= c.4831T= (p.Ser1611=) c.4108T= (p.Ser1370=) c.2659T= (p.Ser887=) | |
| 2 | g.165388668C>A | CA349037627 | SCN2A | c.4862C>A (p.Ser1621Tyr) c.*3181C>A (n.*3181C>A) c.*2849C>A (n.*2849C>A) c.*5385C>A (n.*5385C>A) c.*2804C>A (n.*2804C>A) c.4466C>A (p.Ser1489Tyr) n.8293C>A c.4832C>A (p.Ser1611Tyr) c.4109C>A (p.Ser1370Tyr) c.2660C>A (p.Ser887Tyr) | |
| 2 | g.165388668C>G | CA349037630 | SCN2A | c.4862C>G (p.Ser1621Cys) c.*3181C>G (n.*3181C>G) c.*2849C>G (n.*2849C>G) c.*5385C>G (n.*5385C>G) c.*2804C>G (n.*2804C>G) c.4466C>G (p.Ser1489Cys) n.8293C>G c.4832C>G (p.Ser1611Cys) c.4109C>G (p.Ser1370Cys) c.2660C>G (p.Ser887Cys) | |
| 2 | g.165388668C>T | CA349037629 | SCN2A | c.4862C>T (p.Ser1621Phe) c.*3181C>T (n.*3181C>T) c.*2849C>T (n.*2849C>T) c.*5385C>T (n.*5385C>T) c.*2804C>T (n.*2804C>T) c.4466C>T (p.Ser1489Phe) n.8293C>T c.4832C>T (p.Ser1611Phe) c.4109C>T (p.Ser1370Phe) c.2660C>T (p.Ser887Phe) | |
| 2 | g.165388669C>A | CA429889033 | SCN2A | c.4863C>A (p.Ser1621=) c.*3182C>A (n.*3182C>A) c.*2850C>A (n.*2850C>A) c.*5386C>A (n.*5386C>A) c.*2805C>A (n.*2805C>A) c.4467C>A (p.Ser1489=) n.8294C>A c.4833C>A (p.Ser1611=) c.4110C>A (p.Ser1370=) c.2661C>A (p.Ser887=) | |
| 2 | g.165388669C>G | CA429889035 | SCN2A | c.4863C>G (p.Ser1621=) c.*3182C>G (n.*3182C>G) c.*2850C>G (n.*2850C>G) c.*5386C>G (n.*5386C>G) c.*2805C>G (n.*2805C>G) c.4467C>G (p.Ser1489=) n.8294C>G c.4833C>G (p.Ser1611=) c.4110C>G (p.Ser1370=) c.2661C>G (p.Ser887=) | |
| 2 | g.165388669C>T | CA429889037 | SCN2A | c.4863C>T (p.Ser1621=) c.*3182C>T (n.*3182C>T) c.*2850C>T (n.*2850C>T) c.*5386C>T (n.*5386C>T) c.*2805C>T (n.*2805C>T) c.4467C>T (p.Ser1489=) n.8294C>T c.4833C>T (p.Ser1611=) c.4110C>T (p.Ser1370=) c.2661C>T (p.Ser887=) | gnomAD v4 |
| 2 | g.165388670C>A | CA349037631 | SCN2A | c.4864C>A (p.Pro1622Thr) c.*3183C>A (n.*3183C>A) c.*2851C>A (n.*2851C>A) c.*5387C>A (n.*5387C>A) c.*2806C>A (n.*2806C>A) c.4468C>A (p.Pro1490Thr) n.8295C>A c.4834C>A (p.Pro1612Thr) c.4111C>A (p.Pro1371Thr) c.2662C>A (p.Pro888Thr) | |
| 2 | g.165388670C>G | CA349037633 | SCN2A | c.4864C>G (p.Pro1622Ala) c.*3183C>G (n.*3183C>G) c.*2851C>G (n.*2851C>G) c.*5387C>G (n.*5387C>G) c.*2806C>G (n.*2806C>G) c.4468C>G (p.Pro1490Ala) n.8295C>G c.4834C>G (p.Pro1612Ala) c.4111C>G (p.Pro1371Ala) c.2662C>G (p.Pro888Ala) | |
| 2 | g.165388670C>T | CA349037635 | SCN2A | c.4864C>T (p.Pro1622Ser) c.*3183C>T (n.*3183C>T) c.*2851C>T (n.*2851C>T) c.*5387C>T (n.*5387C>T) c.*2806C>T (n.*2806C>T) c.4468C>T (p.Pro1490Ser) n.8295C>T c.4834C>T (p.Pro1612Ser) c.4111C>T (p.Pro1371Ser) c.2662C>T (p.Pro888Ser) | ClinVar |
| 2 | g.165388671C>A | CA349037637 | SCN2A | c.4865C>A (p.Pro1622His) c.*3184C>A (n.*3184C>A) c.*2852C>A (n.*2852C>A) c.*5388C>A (n.*5388C>A) c.*2807C>A (n.*2807C>A) c.4469C>A (p.Pro1490His) n.8296C>A c.4835C>A (p.Pro1612His) c.4112C>A (p.Pro1371His) c.2663C>A (p.Pro888His) | |
| 2 | g.165388671C= | CA1304564730 | SCN2A | c.4865C= (p.Pro1622=) c.*3184C= (n.*3184C=) c.*2852C= (n.*2852C=) c.*5388C= (n.*5388C=) c.*2807C= (n.*2807C=) c.4469C= (p.Pro1490=) n.8296C= c.4835C= (p.Pro1612=) c.4112C= (p.Pro1371=) c.2663C= (p.Pro888=) | |
| 2 | g.165388671C>G | CA349037638 | SCN2A | c.4865C>G (p.Pro1622Arg) c.*3184C>G (n.*3184C>G) c.*2852C>G (n.*2852C>G) c.*5388C>G (n.*5388C>G) c.*2807C>G (n.*2807C>G) c.4469C>G (p.Pro1490Arg) n.8296C>G c.4835C>G (p.Pro1612Arg) c.4112C>G (p.Pro1371Arg) c.2663C>G (p.Pro888Arg) | ClinVar dbSNP |
| 2 | g.165388671C>T | CA349037640 | SCN2A | c.4865C>T (p.Pro1622Leu) c.*3184C>T (n.*3184C>T) c.*2852C>T (n.*2852C>T) c.*5388C>T (n.*5388C>T) c.*2807C>T (n.*2807C>T) c.4469C>T (p.Pro1490Leu) n.8296C>T c.4835C>T (p.Pro1612Leu) c.4112C>T (p.Pro1371Leu) c.2663C>T (p.Pro888Leu) | ClinVar dbSNP |
| 2 | g.165388672T>A | CA429889046 | SCN2A | c.4866T>A (p.Pro1622=) c.*3185T>A (n.*3185T>A) c.*2853T>A (n.*2853T>A) c.*5389T>A (n.*5389T>A) c.*2808T>A (n.*2808T>A) c.4470T>A (p.Pro1490=) n.8297T>A c.4836T>A (p.Pro1612=) c.4113T>A (p.Pro1371=) c.2664T>A (p.Pro888=) | |
| 2 | g.165388672T>C | CA429889048 | SCN2A | c.4866T>C (p.Pro1622=) c.*3185T>C (n.*3185T>C) c.*2853T>C (n.*2853T>C) c.*5389T>C (n.*5389T>C) c.*2808T>C (n.*2808T>C) c.4470T>C (p.Pro1490=) n.8297T>C c.4836T>C (p.Pro1612=) c.4113T>C (p.Pro1371=) c.2664T>C (p.Pro888=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165388672T>G | CA429889050 | SCN2A | c.4866T>G (p.Pro1622=) c.*3185T>G (n.*3185T>G) c.*2853T>G (n.*2853T>G) c.*5389T>G (n.*5389T>G) c.*2808T>G (n.*2808T>G) c.4470T>G (p.Pro1490=) n.8297T>G c.4836T>G (p.Pro1612=) c.4113T>G (p.Pro1371=) c.2664T>G (p.Pro888=) | |
| 2 | g.165388672T= | CA1304564732 | SCN2A | c.4866T= (p.Pro1622=) c.*3185T= (n.*3185T=) c.*2853T= (n.*2853T=) c.*5389T= (n.*5389T=) c.*2808T= (n.*2808T=) c.4470T= (p.Pro1490=) n.8297T= c.4836T= (p.Pro1612=) c.4113T= (p.Pro1371=) c.2664T= (p.Pro888=) | |
| 2 | g.165388673A>C | CA349037641 | SCN2A | c.4867A>C (p.Thr1623Pro) c.*3186A>C (n.*3186A>C) c.*2854A>C (n.*2854A>C) c.*5390A>C (n.*5390A>C) c.*2809A>C (n.*2809A>C) c.4471A>C (p.Thr1491Pro) n.8298A>C c.4837A>C (p.Thr1613Pro) c.4114A>C (p.Thr1372Pro) c.2665A>C (p.Thr889Pro) | |
| 2 | g.165388673A>G | CA349037643 | SCN2A | c.4867A>G (p.Thr1623Ala) c.*3186A>G (n.*3186A>G) c.*2854A>G (n.*2854A>G) c.*5390A>G (n.*5390A>G) c.*2809A>G (n.*2809A>G) c.4471A>G (p.Thr1491Ala) n.8298A>G c.4837A>G (p.Thr1613Ala) c.4114A>G (p.Thr1372Ala) c.2665A>G (p.Thr889Ala) | |
| 2 | g.165388673A>T | CA349037645 | SCN2A | c.4867A>T (p.Thr1623Ser) c.*3186A>T (n.*3186A>T) c.*2854A>T (n.*2854A>T) c.*5390A>T (n.*5390A>T) c.*2809A>T (n.*2809A>T) c.4471A>T (p.Thr1491Ser) n.8298A>T c.4837A>T (p.Thr1613Ser) c.4114A>T (p.Thr1372Ser) c.2665A>T (p.Thr889Ser) | |
| 2 | g.165388674C>A | CA349037646 | SCN2A | c.4868C>A (p.Thr1623Asn) c.*3187C>A (n.*3187C>A) c.*2855C>A (n.*2855C>A) c.*5391C>A (n.*5391C>A) c.*2810C>A (n.*2810C>A) c.4472C>A (p.Thr1491Asn) n.8299C>A c.4838C>A (p.Thr1613Asn) c.4115C>A (p.Thr1372Asn) c.2666C>A (p.Thr889Asn) | ClinVar dbSNP |
| 2 | g.165388674C= | CA1304564733 | SCN2A | c.4868C= (p.Thr1623=) c.*3187C= (n.*3187C=) c.*2855C= (n.*2855C=) c.*5391C= (n.*5391C=) c.*2810C= (n.*2810C=) c.4472C= (p.Thr1491=) n.8299C= c.4838C= (p.Thr1613=) c.4115C= (p.Thr1372=) c.2666C= (p.Thr889=) | |
| 2 | g.165388674C>G | CA349037648 | SCN2A | c.4868C>G (p.Thr1623Ser) c.*3187C>G (n.*3187C>G) c.*2855C>G (n.*2855C>G) c.*5391C>G (n.*5391C>G) c.*2810C>G (n.*2810C>G) c.4472C>G (p.Thr1491Ser) n.8299C>G c.4838C>G (p.Thr1613Ser) c.4115C>G (p.Thr1372Ser) c.2666C>G (p.Thr889Ser) | |
| 2 | g.165388674C>T | CA349037649 | SCN2A | c.4868C>T (p.Thr1623Ile) c.*3187C>T (n.*3187C>T) c.*2855C>T (n.*2855C>T) c.*5391C>T (n.*5391C>T) c.*2810C>T (n.*2810C>T) c.4472C>T (p.Thr1491Ile) n.8299C>T c.4838C>T (p.Thr1613Ile) c.4115C>T (p.Thr1372Ile) c.2666C>T (p.Thr889Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.165388675C>A | CA429972669 | SCN2A | c.4869C>A (p.Thr1623=) c.*3188C>A (n.*3188C>A) c.*2856C>A (n.*2856C>A) c.*5392C>A (n.*5392C>A) c.*2811C>A (n.*2811C>A) c.4473C>A (p.Thr1491=) n.8300C>A c.4839C>A (p.Thr1613=) c.4116C>A (p.Thr1372=) c.2667C>A (p.Thr889=) | |
| 2 | g.165388675C= | CA1304564735 | SCN2A | c.4869C= (p.Thr1623=) c.*3188C= (n.*3188C=) c.*2856C= (n.*2856C=) c.*5392C= (n.*5392C=) c.*2811C= (n.*2811C=) c.4473C= (p.Thr1491=) n.8300C= c.4839C= (p.Thr1613=) c.4116C= (p.Thr1372=) c.2667C= (p.Thr889=) | |
| 2 | g.165388675C>G | CA59752265 | SCN2A | c.4869C>G (p.Thr1623=) c.*3188C>G (n.*3188C>G) c.*2856C>G (n.*2856C>G) c.*5392C>G (n.*5392C>G) c.*2811C>G (n.*2811C>G) c.4473C>G (p.Thr1491=) n.8300C>G c.4839C>G (p.Thr1613=) c.4116C>G (p.Thr1372=) c.2667C>G (p.Thr889=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.165388675C>T | CA1940349 | SCN2A | c.4869C>T (p.Thr1623=) c.*3188C>T (n.*3188C>T) c.*2856C>T (n.*2856C>T) c.*5392C>T (n.*5392C>T) c.*2811C>T (n.*2811C>T) c.4473C>T (p.Thr1491=) n.8300C>T c.4839C>T (p.Thr1613=) c.4116C>T (p.Thr1372=) c.2667C>T (p.Thr889=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165388676C>A | CA349037652 | SCN2A | c.4870C>A (p.Leu1624Met) c.*3189C>A (n.*3189C>A) c.*2857C>A (n.*2857C>A) c.*5393C>A (n.*5393C>A) c.*2812C>A (n.*2812C>A) c.4474C>A (p.Leu1492Met) n.8301C>A c.4840C>A (p.Leu1614Met) c.4117C>A (p.Leu1373Met) c.2668C>A (p.Leu890Met) | |
| 2 | g.165388676C>G | CA349037656 | SCN2A | c.4870C>G (p.Leu1624Val) c.*3189C>G (n.*3189C>G) c.*2857C>G (n.*2857C>G) c.*5393C>G (n.*5393C>G) c.*2812C>G (n.*2812C>G) c.4474C>G (p.Leu1492Val) n.8301C>G c.4840C>G (p.Leu1614Val) c.4117C>G (p.Leu1373Val) c.2668C>G (p.Leu890Val) | |
| 2 | g.165388676C>T | CA429972673 | SCN2A | c.4870C>T (p.Leu1624=) c.*3189C>T (n.*3189C>T) c.*2857C>T (n.*2857C>T) c.*5393C>T (n.*5393C>T) c.*2812C>T (n.*2812C>T) c.4474C>T (p.Leu1492=) n.8301C>T c.4840C>T (p.Leu1614=) c.4117C>T (p.Leu1373=) c.2668C>T (p.Leu890=) | gnomAD v4 |
| 2 | g.165388677T>A | CA349037659 | SCN2A | c.4871T>A (p.Leu1624Gln) c.*3190T>A (n.*3190T>A) c.*2858T>A (n.*2858T>A) c.*5394T>A (n.*5394T>A) c.*2813T>A (n.*2813T>A) c.4475T>A (p.Leu1492Gln) n.8302T>A c.4841T>A (p.Leu1614Gln) c.4118T>A (p.Leu1373Gln) c.2669T>A (p.Leu890Gln) | |
| 2 | g.165388677T>C | CA349037660 | SCN2A | c.4871T>C (p.Leu1624Pro) c.*3190T>C (n.*3190T>C) c.*2858T>C (n.*2858T>C) c.*5394T>C (n.*5394T>C) c.*2813T>C (n.*2813T>C) c.4475T>C (p.Leu1492Pro) n.8302T>C c.4841T>C (p.Leu1614Pro) c.4118T>C (p.Leu1373Pro) c.2669T>C (p.Leu890Pro) | ClinVar |
| 2 | g.165388677T>G | CA349037662 | SCN2A | c.4871T>G (p.Leu1624Arg) c.*3190T>G (n.*3190T>G) c.*2858T>G (n.*2858T>G) c.*5394T>G (n.*5394T>G) c.*2813T>G (n.*2813T>G) c.4475T>G (p.Leu1492Arg) n.8302T>G c.4841T>G (p.Leu1614Arg) c.4118T>G (p.Leu1373Arg) c.2669T>G (p.Leu890Arg) | |
| 2 | g.165388678G>A | CA429972674 | SCN2A | c.4872G>A (p.Leu1624=) c.*3191G>A (n.*3191G>A) c.*2859G>A (n.*2859G>A) c.*5395G>A (n.*5395G>A) c.*2814G>A (n.*2814G>A) c.4476G>A (p.Leu1492=) n.8303G>A c.4842G>A (p.Leu1614=) c.4119G>A (p.Leu1373=) c.2670G>A (p.Leu890=) | |
| 2 | g.165388678G>C | CA429972675 | SCN2A | c.4872G>C (p.Leu1624=) c.*3191G>C (n.*3191G>C) c.*2859G>C (n.*2859G>C) c.*5395G>C (n.*5395G>C) c.*2814G>C (n.*2814G>C) c.4476G>C (p.Leu1492=) n.8303G>C c.4842G>C (p.Leu1614=) c.4119G>C (p.Leu1373=) c.2670G>C (p.Leu890=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165388678G= | CA1304564737 | SCN2A | c.4872G= (p.Leu1624=) c.*3191G= (n.*3191G=) c.*2859G= (n.*2859G=) c.*5395G= (n.*5395G=) c.*2814G= (n.*2814G=) c.4476G= (p.Leu1492=) n.8303G= c.4842G= (p.Leu1614=) c.4119G= (p.Leu1373=) c.2670G= (p.Leu890=) | |
| 2 | g.165388678G>T | CA429972676 | SCN2A | c.4872G>T (p.Leu1624=) c.*3191G>T (n.*3191G>T) c.*2859G>T (n.*2859G>T) c.*5395G>T (n.*5395G>T) c.*2814G>T (n.*2814G>T) c.4476G>T (p.Leu1492=) n.8303G>T c.4842G>T (p.Leu1614=) c.4119G>T (p.Leu1373=) c.2670G>T (p.Leu890=) | dbSNP |
| 2 | g.165388679T>A | CA349037663 | SCN2A | c.4873T>A (p.Phe1625Ile) c.*3192T>A (n.*3192T>A) c.*2860T>A (n.*2860T>A) c.*5396T>A (n.*5396T>A) c.*2815T>A (n.*2815T>A) c.4477T>A (p.Phe1493Ile) n.8304T>A c.4843T>A (p.Phe1615Ile) c.4120T>A (p.Phe1374Ile) c.2671T>A (p.Phe891Ile) | |
| 2 | g.165388679T>C | CA349037664 | SCN2A | c.4873T>C (p.Phe1625Leu) c.*3192T>C (n.*3192T>C) c.*2860T>C (n.*2860T>C) c.*5396T>C (n.*5396T>C) c.*2815T>C (n.*2815T>C) c.4477T>C (p.Phe1493Leu) n.8304T>C c.4843T>C (p.Phe1615Leu) c.4120T>C (p.Phe1374Leu) c.2671T>C (p.Phe891Leu) | |
| 2 | g.165388679T>G | CA349037665 | SCN2A | c.4873T>G (p.Phe1625Val) c.*3192T>G (n.*3192T>G) c.*2860T>G (n.*2860T>G) c.*5396T>G (n.*5396T>G) c.*2815T>G (n.*2815T>G) c.4477T>G (p.Phe1493Val) n.8304T>G c.4843T>G (p.Phe1615Val) c.4120T>G (p.Phe1374Val) c.2671T>G (p.Phe891Val) | |
| 2 | g.165388680T>A | CA349037666 | SCN2A | c.4874T>A (p.Phe1625Tyr) c.*3193T>A (n.*3193T>A) c.*2861T>A (n.*2861T>A) c.*5397T>A (n.*5397T>A) c.*2816T>A (n.*2816T>A) c.4478T>A (p.Phe1493Tyr) n.8305T>A c.4844T>A (p.Phe1615Tyr) c.4121T>A (p.Phe1374Tyr) c.2672T>A (p.Phe891Tyr) | |
| 2 | g.165388680T>C | CA349037668 | SCN2A | c.4874T>C (p.Phe1625Ser) c.*3193T>C (n.*3193T>C) c.*2861T>C (n.*2861T>C) c.*5397T>C (n.*5397T>C) c.*2816T>C (n.*2816T>C) c.4478T>C (p.Phe1493Ser) n.8305T>C c.4844T>C (p.Phe1615Ser) c.4121T>C (p.Phe1374Ser) c.2672T>C (p.Phe891Ser) | |
| 2 | g.165388680T>G | CA349037669 | SCN2A | c.4874T>G (p.Phe1625Cys) c.*3193T>G (n.*3193T>G) c.*2861T>G (n.*2861T>G) c.*5397T>G (n.*5397T>G) c.*2816T>G (n.*2816T>G) c.4478T>G (p.Phe1493Cys) n.8305T>G c.4844T>G (p.Phe1615Cys) c.4121T>G (p.Phe1374Cys) c.2672T>G (p.Phe891Cys) | |
| 2 | g.165388681C>A | CA349037671 | SCN2A | c.4875C>A (p.Phe1625Leu) c.*3194C>A (n.*3194C>A) c.*2862C>A (n.*2862C>A) c.*5398C>A (n.*5398C>A) c.*2817C>A (n.*2817C>A) c.4479C>A (p.Phe1493Leu) n.8306C>A c.4845C>A (p.Phe1615Leu) c.4122C>A (p.Phe1374Leu) c.2673C>A (p.Phe891Leu) | |
| 2 | g.165388681C= | CA1304564738 | SCN2A | c.4875C= (p.Phe1625=) c.*3194C= (n.*3194C=) c.*2862C= (n.*2862C=) c.*5398C= (n.*5398C=) c.*2817C= (n.*2817C=) c.4479C= (p.Phe1493=) n.8306C= c.4845C= (p.Phe1615=) c.4122C= (p.Phe1374=) c.2673C= (p.Phe891=) |