Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165386901G>A | CA429972395 | SCN2A | c.4707G>A (p.Val1569=) c.*3026G>A (n.*3026G>A) c.*2694G>A (n.*2694G>A) c.*5230G>A (n.*5230G>A) c.*2649G>A (n.*2649G>A) c.4311G>A (p.Val1437=) n.8138G>A c.4677G>A (p.Val1559=) c.3954G>A (p.Val1318=) c.2505G>A (p.Val835=) | |
2 | g.165386901G>C | CA429972396 | SCN2A | c.4707G>C (p.Val1569=) c.*3026G>C (n.*3026G>C) c.*2694G>C (n.*2694G>C) c.*5230G>C (n.*5230G>C) c.*2649G>C (n.*2649G>C) c.4311G>C (p.Val1437=) n.8138G>C c.4677G>C (p.Val1559=) c.3954G>C (p.Val1318=) c.2505G>C (p.Val835=) | |
2 | g.165386901G>T | CA429972397 | SCN2A | c.4707G>T (p.Val1569=) c.*3026G>T (n.*3026G>T) c.*2694G>T (n.*2694G>T) c.*5230G>T (n.*5230G>T) c.*2649G>T (n.*2649G>T) c.4311G>T (p.Val1437=) n.8138G>T c.4677G>T (p.Val1559=) c.3954G>T (p.Val1318=) c.2505G>T (p.Val835=) | |
2 | g.165386902T>A | CA349036576 | SCN2A | c.4708T>A (p.Phe1570Ile) c.*3027T>A (n.*3027T>A) c.*2695T>A (n.*2695T>A) c.*5231T>A (n.*5231T>A) c.*2650T>A (n.*2650T>A) c.4312T>A (p.Phe1438Ile) n.8139T>A c.4678T>A (p.Phe1560Ile) c.3955T>A (p.Phe1319Ile) c.2506T>A (p.Phe836Ile) | |
2 | g.165386902T>C | CA349036578 | SCN2A | c.4708T>C (p.Phe1570Leu) c.*3027T>C (n.*3027T>C) c.*2695T>C (n.*2695T>C) c.*5231T>C (n.*5231T>C) c.*2650T>C (n.*2650T>C) c.4312T>C (p.Phe1438Leu) n.8139T>C c.4678T>C (p.Phe1560Leu) c.3955T>C (p.Phe1319Leu) c.2506T>C (p.Phe836Leu) | |
2 | g.165386902T>G | CA349036579 | SCN2A | c.4708T>G (p.Phe1570Val) c.*3027T>G (n.*3027T>G) c.*2695T>G (n.*2695T>G) c.*5231T>G (n.*5231T>G) c.*2650T>G (n.*2650T>G) c.4312T>G (p.Phe1438Val) n.8139T>G c.4678T>G (p.Phe1560Val) c.3955T>G (p.Phe1319Val) c.2506T>G (p.Phe836Val) | |
2 | g.165386903T>A | CA349036581 | SCN2A | c.4709T>A (p.Phe1570Tyr) c.*3028T>A (n.*3028T>A) c.*2696T>A (n.*2696T>A) c.*5232T>A (n.*5232T>A) c.*2651T>A (n.*2651T>A) c.4313T>A (p.Phe1438Tyr) n.8140T>A c.4679T>A (p.Phe1560Tyr) c.3956T>A (p.Phe1319Tyr) c.2507T>A (p.Phe836Tyr) | |
2 | g.165386903T>C | CA349036584 | SCN2A | c.4709T>C (p.Phe1570Ser) c.*3028T>C (n.*3028T>C) c.*2696T>C (n.*2696T>C) c.*5232T>C (n.*5232T>C) c.*2651T>C (n.*2651T>C) c.4313T>C (p.Phe1438Ser) n.8140T>C c.4679T>C (p.Phe1560Ser) c.3956T>C (p.Phe1319Ser) c.2507T>C (p.Phe836Ser) | |
2 | g.165386903T>G | CA349036582 | SCN2A | c.4709T>G (p.Phe1570Cys) c.*3028T>G (n.*3028T>G) c.*2696T>G (n.*2696T>G) c.*5232T>G (n.*5232T>G) c.*2651T>G (n.*2651T>G) c.4313T>G (p.Phe1438Cys) n.8140T>G c.4679T>G (p.Phe1560Cys) c.3956T>G (p.Phe1319Cys) c.2507T>G (p.Phe836Cys) | |
2 | g.165386904T>A | CA349036585 | SCN2A | c.4710T>A (p.Phe1570Leu) c.*3029T>A (n.*3029T>A) c.*2697T>A (n.*2697T>A) c.*5233T>A (n.*5233T>A) c.*2652T>A (n.*2652T>A) c.4314T>A (p.Phe1438Leu) n.8141T>A c.4680T>A (p.Phe1560Leu) c.3957T>A (p.Phe1319Leu) c.2508T>A (p.Phe836Leu) | |
2 | g.165386904T>C | CA429972398 | SCN2A | c.4710T>C (p.Phe1570=) c.*3029T>C (n.*3029T>C) c.*2697T>C (n.*2697T>C) c.*5233T>C (n.*5233T>C) c.*2652T>C (n.*2652T>C) c.4314T>C (p.Phe1438=) n.8141T>C c.4680T>C (p.Phe1560=) c.3957T>C (p.Phe1319=) c.2508T>C (p.Phe836=) | COSMIC COSMIC |
2 | g.165386904T>G | CA349036587 | SCN2A | c.4710T>G (p.Phe1570Leu) c.*3029T>G (n.*3029T>G) c.*2697T>G (n.*2697T>G) c.*5233T>G (n.*5233T>G) c.*2652T>G (n.*2652T>G) c.4314T>G (p.Phe1438Leu) n.8141T>G c.4680T>G (p.Phe1560Leu) c.3957T>G (p.Phe1319Leu) c.2508T>G (p.Phe836Leu) | |
2 | g.165386905A>C | CA349036588 | SCN2A | c.4711A>C (p.Ile1571Leu) c.*3030A>C (n.*3030A>C) c.*2698A>C (n.*2698A>C) c.*5234A>C (n.*5234A>C) c.*2653A>C (n.*2653A>C) c.4315A>C (p.Ile1439Leu) n.8142A>C c.4681A>C (p.Ile1561Leu) c.3958A>C (p.Ile1320Leu) c.2509A>C (p.Ile837Leu) | |
2 | g.165386905A>G | CA349036589 | SCN2A | c.4711A>G (p.Ile1571Val) c.*3030A>G (n.*3030A>G) c.*2698A>G (n.*2698A>G) c.*5234A>G (n.*5234A>G) c.*2653A>G (n.*2653A>G) c.4315A>G (p.Ile1439Val) n.8142A>G c.4681A>G (p.Ile1561Val) c.3958A>G (p.Ile1320Val) c.2509A>G (p.Ile837Val) | |
2 | g.165386905A>T | CA349036590 | SCN2A | c.4711A>T (p.Ile1571Phe) c.*3030A>T (n.*3030A>T) c.*2698A>T (n.*2698A>T) c.*5234A>T (n.*5234A>T) c.*2653A>T (n.*2653A>T) c.4315A>T (p.Ile1439Phe) n.8142A>T c.4681A>T (p.Ile1561Phe) c.3958A>T (p.Ile1320Phe) c.2509A>T (p.Ile837Phe) | |
2 | g.165386906T>A | CA349036594 | SCN2A | c.4712T>A (p.Ile1571Asn) c.*3031T>A (n.*3031T>A) c.*2699T>A (n.*2699T>A) c.*5235T>A (n.*5235T>A) c.*2654T>A (n.*2654T>A) c.4316T>A (p.Ile1439Asn) n.8143T>A c.4682T>A (p.Ile1561Asn) c.3959T>A (p.Ile1320Asn) c.2510T>A (p.Ile837Asn) | |
2 | g.165386906T>C | CA349036596 | SCN2A | c.4712T>C (p.Ile1571Thr) c.*3031T>C (n.*3031T>C) c.*2699T>C (n.*2699T>C) c.*5235T>C (n.*5235T>C) c.*2654T>C (n.*2654T>C) c.4316T>C (p.Ile1439Thr) n.8143T>C c.4682T>C (p.Ile1561Thr) c.3959T>C (p.Ile1320Thr) c.2510T>C (p.Ile837Thr) | ClinVar dbSNP |
2 | g.165386906T>G | CA349036592 | SCN2A | c.4712T>G (p.Ile1571Ser) c.*3031T>G (n.*3031T>G) c.*2699T>G (n.*2699T>G) c.*5235T>G (n.*5235T>G) c.*2654T>G (n.*2654T>G) c.4316T>G (p.Ile1439Ser) n.8143T>G c.4682T>G (p.Ile1561Ser) c.3959T>G (p.Ile1320Ser) c.2510T>G (p.Ile837Ser) | |
2 | g.165386907T>A | CA429972400 | SCN2A | c.4713T>A (p.Ile1571=) c.*3032T>A (n.*3032T>A) c.*2700T>A (n.*2700T>A) c.*5236T>A (n.*5236T>A) c.*2655T>A (n.*2655T>A) c.4317T>A (p.Ile1439=) n.8144T>A c.4683T>A (p.Ile1561=) c.3960T>A (p.Ile1320=) c.2511T>A (p.Ile837=) | |
2 | g.165386907T>C | CA429972401 | SCN2A | c.4713T>C (p.Ile1571=) c.*3032T>C (n.*3032T>C) c.*2700T>C (n.*2700T>C) c.*5236T>C (n.*5236T>C) c.*2655T>C (n.*2655T>C) c.4317T>C (p.Ile1439=) n.8144T>C c.4683T>C (p.Ile1561=) c.3960T>C (p.Ile1320=) c.2511T>C (p.Ile837=) | |
2 | g.165386907T>G | CA349036597 | SCN2A | c.4713T>G (p.Ile1571Met) c.*3032T>G (n.*3032T>G) c.*2700T>G (n.*2700T>G) c.*5236T>G (n.*5236T>G) c.*2655T>G (n.*2655T>G) c.4317T>G (p.Ile1439Met) n.8144T>G c.4683T>G (p.Ile1561Met) c.3960T>G (p.Ile1320Met) c.2511T>G (p.Ile837Met) | ClinVar |
2 | g.165386908G>A | CA349036599 | SCN2A | c.4714G>A (p.Val1572Ile) c.*3033G>A (n.*3033G>A) c.*2701G>A (n.*2701G>A) c.*5237G>A (n.*5237G>A) c.*2656G>A (n.*2656G>A) c.4318G>A (p.Val1440Ile) n.8145G>A c.4684G>A (p.Val1562Ile) c.3961G>A (p.Val1321Ile) c.2512G>A (p.Val838Ile) | gnomAD v4 |
2 | g.165386908G>C | CA349036600 | SCN2A | c.4714G>C (p.Val1572Leu) c.*3033G>C (n.*3033G>C) c.*2701G>C (n.*2701G>C) c.*5237G>C (n.*5237G>C) c.*2656G>C (n.*2656G>C) c.4318G>C (p.Val1440Leu) n.8145G>C c.4684G>C (p.Val1562Leu) c.3961G>C (p.Val1321Leu) c.2512G>C (p.Val838Leu) | |
2 | g.165386908G>T | CA349036602 | SCN2A | c.4714G>T (p.Val1572Phe) c.*3033G>T (n.*3033G>T) c.*2701G>T (n.*2701G>T) c.*5237G>T (n.*5237G>T) c.*2656G>T (n.*2656G>T) c.4318G>T (p.Val1440Phe) n.8145G>T c.4684G>T (p.Val1562Phe) c.3961G>T (p.Val1321Phe) c.2512G>T (p.Val838Phe) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.165386909T>A | CA349036603 | SCN2A | c.4715T>A (p.Val1572Asp) c.*3034T>A (n.*3034T>A) c.*2702T>A (n.*2702T>A) c.*5238T>A (n.*5238T>A) c.*2657T>A (n.*2657T>A) c.4319T>A (p.Val1440Asp) n.8146T>A c.4685T>A (p.Val1562Asp) c.3962T>A (p.Val1321Asp) c.2513T>A (p.Val838Asp) | |
2 | g.165386909T>C | CA349036605 | SCN2A | c.4715T>C (p.Val1572Ala) c.*3034T>C (n.*3034T>C) c.*2702T>C (n.*2702T>C) c.*5238T>C (n.*5238T>C) c.*2657T>C (n.*2657T>C) c.4319T>C (p.Val1440Ala) n.8146T>C c.4685T>C (p.Val1562Ala) c.3962T>C (p.Val1321Ala) c.2513T>C (p.Val838Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386909T>G | CA349036606 | SCN2A | c.4715T>G (p.Val1572Gly) c.*3034T>G (n.*3034T>G) c.*2702T>G (n.*2702T>G) c.*5238T>G (n.*5238T>G) c.*2657T>G (n.*2657T>G) c.4319T>G (p.Val1440Gly) n.8146T>G c.4685T>G (p.Val1562Gly) c.3962T>G (p.Val1321Gly) c.2513T>G (p.Val838Gly) | |
2 | g.165386909T= | CA1304563798 | SCN2A | c.4715T= (p.Val1572=) c.*3034T= (n.*3034T=) c.*2702T= (n.*2702T=) c.*5238T= (n.*5238T=) c.*2657T= (n.*2657T=) c.4319T= (p.Val1440=) n.8146T= c.4685T= (p.Val1562=) c.3962T= (p.Val1321=) c.2513T= (p.Val838=) | |
2 | g.165386910T>A | CA429972402 | SCN2A | c.4716T>A (p.Val1572=) c.*3035T>A (n.*3035T>A) c.*2703T>A (n.*2703T>A) c.*5239T>A (n.*5239T>A) c.*2658T>A (n.*2658T>A) c.4320T>A (p.Val1440=) n.8147T>A c.4686T>A (p.Val1562=) c.3963T>A (p.Val1321=) c.2514T>A (p.Val838=) | |
2 | g.165386910T>C | CA429972403 | SCN2A | c.4716T>C (p.Val1572=) c.*3035T>C (n.*3035T>C) c.*2703T>C (n.*2703T>C) c.*5239T>C (n.*5239T>C) c.*2658T>C (n.*2658T>C) c.4320T>C (p.Val1440=) n.8147T>C c.4686T>C (p.Val1562=) c.3963T>C (p.Val1321=) c.2514T>C (p.Val838=) | |
2 | g.165386910T>G | CA429972404 | SCN2A | c.4716T>G (p.Val1572=) c.*3035T>G (n.*3035T>G) c.*2703T>G (n.*2703T>G) c.*5239T>G (n.*5239T>G) c.*2658T>G (n.*2658T>G) c.4320T>G (p.Val1440=) n.8147T>G c.4686T>G (p.Val1562=) c.3963T>G (p.Val1321=) c.2514T>G (p.Val838=) | |
2 | g.165386911C>A | CA349036607 | SCN2A | c.4717C>A (p.Leu1573Met) c.*3036C>A (n.*3036C>A) c.*2704C>A (n.*2704C>A) c.*5240C>A (n.*5240C>A) c.*2659C>A (n.*2659C>A) c.4321C>A (p.Leu1441Met) n.8148C>A c.4687C>A (p.Leu1563Met) c.3964C>A (p.Leu1322Met) c.2515C>A (p.Leu839Met) | |
2 | g.165386911C>G | CA349036609 | SCN2A | c.4717C>G (p.Leu1573Val) c.*3036C>G (n.*3036C>G) c.*2704C>G (n.*2704C>G) c.*5240C>G (n.*5240C>G) c.*2659C>G (n.*2659C>G) c.4321C>G (p.Leu1441Val) n.8148C>G c.4687C>G (p.Leu1563Val) c.3964C>G (p.Leu1322Val) c.2515C>G (p.Leu839Val) | |
2 | g.165386911C>T | CA429972405 | SCN2A | c.4717C>T (p.Leu1573=) c.*3036C>T (n.*3036C>T) c.*2704C>T (n.*2704C>T) c.*5240C>T (n.*5240C>T) c.*2659C>T (n.*2659C>T) c.4321C>T (p.Leu1441=) n.8148C>T c.4687C>T (p.Leu1563=) c.3964C>T (p.Leu1322=) c.2515C>T (p.Leu839=) | |
2 | g.165386912T>A | CA349036611 | SCN2A | c.4718T>A (p.Leu1573Gln) c.*3037T>A (n.*3037T>A) c.*2705T>A (n.*2705T>A) c.*5241T>A (n.*5241T>A) c.*2660T>A (n.*2660T>A) c.4322T>A (p.Leu1441Gln) n.8149T>A c.4688T>A (p.Leu1563Gln) c.3965T>A (p.Leu1322Gln) c.2516T>A (p.Leu839Gln) | |
2 | g.165386912T>C | CA318003 | SCN2A | c.4718T>C (p.Leu1573Pro) c.*3037T>C (n.*3037T>C) c.*2705T>C (n.*2705T>C) c.*5241T>C (n.*5241T>C) c.*2660T>C (n.*2660T>C) c.4322T>C (p.Leu1441Pro) n.8149T>C c.4688T>C (p.Leu1563Pro) c.3965T>C (p.Leu1322Pro) c.2516T>C (p.Leu839Pro) | ClinVar dbSNP |
2 | g.165386912T>G | CA349036613 | SCN2A | c.4718T>G (p.Leu1573Arg) c.*3037T>G (n.*3037T>G) c.*2705T>G (n.*2705T>G) c.*5241T>G (n.*5241T>G) c.*2660T>G (n.*2660T>G) c.4322T>G (p.Leu1441Arg) n.8149T>G c.4688T>G (p.Leu1563Arg) c.3965T>G (p.Leu1322Arg) c.2516T>G (p.Leu839Arg) | |
2 | g.165386912T= | CA1304563799 | SCN2A | c.4718T= (p.Leu1573=) c.*3037T= (n.*3037T=) c.*2705T= (n.*2705T=) c.*5241T= (n.*5241T=) c.*2660T= (n.*2660T=) c.4322T= (p.Leu1441=) n.8149T= c.4688T= (p.Leu1563=) c.3965T= (p.Leu1322=) c.2516T= (p.Leu839=) | |
2 | g.165386913G>A | CA429972406 | SCN2A | c.4719G>A (p.Leu1573=) c.*3038G>A (n.*3038G>A) c.*2706G>A (n.*2706G>A) c.*5242G>A (n.*5242G>A) c.*2661G>A (n.*2661G>A) c.4323G>A (p.Leu1441=) n.8150G>A c.4689G>A (p.Leu1563=) c.3966G>A (p.Leu1322=) c.2517G>A (p.Leu839=) | |
2 | g.165386913G>C | CA59751053 | SCN2A | c.4719G>C (p.Leu1573=) c.*3038G>C (n.*3038G>C) c.*2706G>C (n.*2706G>C) c.*5242G>C (n.*5242G>C) c.*2661G>C (n.*2661G>C) c.4323G>C (p.Leu1441=) n.8150G>C c.4689G>C (p.Leu1563=) c.3966G>C (p.Leu1322=) c.2517G>C (p.Leu839=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.165386913G= | CA1304563800 | SCN2A | c.4719G= (p.Leu1573=) c.*3038G= (n.*3038G=) c.*2706G= (n.*2706G=) c.*5242G= (n.*5242G=) c.*2661G= (n.*2661G=) c.4323G= (p.Leu1441=) n.8150G= c.4689G= (p.Leu1563=) c.3966G= (p.Leu1322=) c.2517G= (p.Leu839=) | |
2 | g.165386913G>T | CA429972407 | SCN2A | c.4719G>T (p.Leu1573=) c.*3038G>T (n.*3038G>T) c.*2706G>T (n.*2706G>T) c.*5242G>T (n.*5242G>T) c.*2661G>T (n.*2661G>T) c.4323G>T (p.Leu1441=) n.8150G>T c.4689G>T (p.Leu1563=) c.3966G>T (p.Leu1322=) c.2517G>T (p.Leu839=) | |
2 | g.165386914T>A | CA349036616 | SCN2A | c.4720T>A (p.Phe1574Ile) c.*3039T>A (n.*3039T>A) c.*2707T>A (n.*2707T>A) c.*5243T>A (n.*5243T>A) c.*2662T>A (n.*2662T>A) c.4324T>A (p.Phe1442Ile) n.8151T>A c.4690T>A (p.Phe1564Ile) c.3967T>A (p.Phe1323Ile) c.2518T>A (p.Phe840Ile) | |
2 | g.165386914T>C | CA349036617 | SCN2A | c.4720T>C (p.Phe1574Leu) c.*3039T>C (n.*3039T>C) c.*2707T>C (n.*2707T>C) c.*5243T>C (n.*5243T>C) c.*2662T>C (n.*2662T>C) c.4324T>C (p.Phe1442Leu) n.8151T>C c.4690T>C (p.Phe1564Leu) c.3967T>C (p.Phe1323Leu) c.2518T>C (p.Phe840Leu) | |
2 | g.165386914T>G | CA349036619 | SCN2A | c.4720T>G (p.Phe1574Val) c.*3039T>G (n.*3039T>G) c.*2707T>G (n.*2707T>G) c.*5243T>G (n.*5243T>G) c.*2662T>G (n.*2662T>G) c.4324T>G (p.Phe1442Val) n.8151T>G c.4690T>G (p.Phe1564Val) c.3967T>G (p.Phe1323Val) c.2518T>G (p.Phe840Val) | |
2 | g.165386915T>A | CA349036621 | SCN2A | c.4721T>A (p.Phe1574Tyr) c.*3040T>A (n.*3040T>A) c.*2708T>A (n.*2708T>A) c.*5244T>A (n.*5244T>A) c.*2663T>A (n.*2663T>A) c.4325T>A (p.Phe1442Tyr) n.8152T>A c.4691T>A (p.Phe1564Tyr) c.3968T>A (p.Phe1323Tyr) c.2519T>A (p.Phe840Tyr) | |
2 | g.165386915T>C | CA349036623 | SCN2A | c.4721T>C (p.Phe1574Ser) c.*3040T>C (n.*3040T>C) c.*2708T>C (n.*2708T>C) c.*5244T>C (n.*5244T>C) c.*2663T>C (n.*2663T>C) c.4325T>C (p.Phe1442Ser) n.8152T>C c.4691T>C (p.Phe1564Ser) c.3968T>C (p.Phe1323Ser) c.2519T>C (p.Phe840Ser) | |
2 | g.165386915T>G | CA349036622 | SCN2A | c.4721T>G (p.Phe1574Cys) c.*3040T>G (n.*3040T>G) c.*2708T>G (n.*2708T>G) c.*5244T>G (n.*5244T>G) c.*2663T>G (n.*2663T>G) c.4325T>G (p.Phe1442Cys) n.8152T>G c.4691T>G (p.Phe1564Cys) c.3968T>G (p.Phe1323Cys) c.2519T>G (p.Phe840Cys) | |
2 | g.165386916C>A | CA349036625 | SCN2A | c.4722C>A (p.Phe1574Leu) c.*3041C>A (n.*3041C>A) c.*2709C>A (n.*2709C>A) c.*5245C>A (n.*5245C>A) c.*2664C>A (n.*2664C>A) c.4326C>A (p.Phe1442Leu) n.8153C>A c.4692C>A (p.Phe1564Leu) c.3969C>A (p.Phe1323Leu) c.2520C>A (p.Phe840Leu) | ClinVar dbSNP |
2 | g.165386916C= | CA1304563801 | SCN2A | c.4722C= (p.Phe1574=) c.*3041C= (n.*3041C=) c.*2709C= (n.*2709C=) c.*5245C= (n.*5245C=) c.*2664C= (n.*2664C=) c.4326C= (p.Phe1442=) n.8153C= c.4692C= (p.Phe1564=) c.3969C= (p.Phe1323=) c.2520C= (p.Phe840=) | |
2 | g.165386916C>G | CA349036627 | SCN2A | c.4722C>G (p.Phe1574Leu) c.*3041C>G (n.*3041C>G) c.*2709C>G (n.*2709C>G) c.*5245C>G (n.*5245C>G) c.*2664C>G (n.*2664C>G) c.4326C>G (p.Phe1442Leu) n.8153C>G c.4692C>G (p.Phe1564Leu) c.3969C>G (p.Phe1323Leu) c.2520C>G (p.Phe840Leu) | |
2 | g.165386916C>T | CA429972409 | SCN2A | c.4722C>T (p.Phe1574=) c.*3041C>T (n.*3041C>T) c.*2709C>T (n.*2709C>T) c.*5245C>T (n.*5245C>T) c.*2664C>T (n.*2664C>T) c.4326C>T (p.Phe1442=) n.8153C>T c.4692C>T (p.Phe1564=) c.3969C>T (p.Phe1323=) c.2520C>T (p.Phe840=) | |
2 | g.165386917A>C | CA349036629 | SCN2A | c.4723A>C (p.Thr1575Pro) c.*3042A>C (n.*3042A>C) c.*2710A>C (n.*2710A>C) c.*5246A>C (n.*5246A>C) c.*2665A>C (n.*2665A>C) c.4327A>C (p.Thr1443Pro) n.8154A>C c.4693A>C (p.Thr1565Pro) c.3970A>C (p.Thr1324Pro) c.2521A>C (p.Thr841Pro) | |
2 | g.165386917A>G | CA349036630 | SCN2A | c.4723A>G (p.Thr1575Ala) c.*3042A>G (n.*3042A>G) c.*2710A>G (n.*2710A>G) c.*5246A>G (n.*5246A>G) c.*2665A>G (n.*2665A>G) c.4327A>G (p.Thr1443Ala) n.8154A>G c.4693A>G (p.Thr1565Ala) c.3970A>G (p.Thr1324Ala) c.2521A>G (p.Thr841Ala) | |
2 | g.165386917A>T | CA349036631 | SCN2A | c.4723A>T (p.Thr1575Ser) c.*3042A>T (n.*3042A>T) c.*2710A>T (n.*2710A>T) c.*5246A>T (n.*5246A>T) c.*2665A>T (n.*2665A>T) c.4327A>T (p.Thr1443Ser) n.8154A>T c.4693A>T (p.Thr1565Ser) c.3970A>T (p.Thr1324Ser) c.2521A>T (p.Thr841Ser) | |
2 | g.165386918C>A | CA349036635 | SCN2A | c.4724C>A (p.Thr1575Asn) c.*3043C>A (n.*3043C>A) c.*2711C>A (n.*2711C>A) c.*5247C>A (n.*5247C>A) c.*2666C>A (n.*2666C>A) c.4328C>A (p.Thr1443Asn) n.8155C>A c.4694C>A (p.Thr1565Asn) c.3971C>A (p.Thr1324Asn) c.2522C>A (p.Thr841Asn) | |
2 | g.165386918C>G | CA349036636 | SCN2A | c.4724C>G (p.Thr1575Ser) c.*3043C>G (n.*3043C>G) c.*2711C>G (n.*2711C>G) c.*5247C>G (n.*5247C>G) c.*2666C>G (n.*2666C>G) c.4328C>G (p.Thr1443Ser) n.8155C>G c.4694C>G (p.Thr1565Ser) c.3971C>G (p.Thr1324Ser) c.2522C>G (p.Thr841Ser) | |
2 | g.165386918C>T | CA349036638 | SCN2A | c.4724C>T (p.Thr1575Ile) c.*3043C>T (n.*3043C>T) c.*2711C>T (n.*2711C>T) c.*5247C>T (n.*5247C>T) c.*2666C>T (n.*2666C>T) c.4328C>T (p.Thr1443Ile) n.8155C>T c.4694C>T (p.Thr1565Ile) c.3971C>T (p.Thr1324Ile) c.2522C>T (p.Thr841Ile) | |
2 | g.165386919T>A | CA429972411 | SCN2A | c.4725T>A (p.Thr1575=) c.*3044T>A (n.*3044T>A) c.*2712T>A (n.*2712T>A) c.*5248T>A (n.*5248T>A) c.*2667T>A (n.*2667T>A) c.4329T>A (p.Thr1443=) n.8156T>A c.4695T>A (p.Thr1565=) c.3972T>A (p.Thr1324=) c.2523T>A (p.Thr841=) | |
2 | g.165386919T>C | CA429972412 | SCN2A | c.4725T>C (p.Thr1575=) c.*3044T>C (n.*3044T>C) c.*2712T>C (n.*2712T>C) c.*5248T>C (n.*5248T>C) c.*2667T>C (n.*2667T>C) c.4329T>C (p.Thr1443=) n.8156T>C c.4695T>C (p.Thr1565=) c.3972T>C (p.Thr1324=) c.2523T>C (p.Thr841=) | |
2 | g.165386919T>G | CA429972413 | SCN2A | c.4725T>G (p.Thr1575=) c.*3044T>G (n.*3044T>G) c.*2712T>G (n.*2712T>G) c.*5248T>G (n.*5248T>G) c.*2667T>G (n.*2667T>G) c.4329T>G (p.Thr1443=) n.8156T>G c.4695T>G (p.Thr1565=) c.3972T>G (p.Thr1324=) c.2523T>G (p.Thr841=) | |
2 | g.165386919_165386920delinsTG | CA1304563802 | SCN2A | c.4725_4726delinsTG (p.Thr1575=) c.*3044_*3045delinsTG (n.*3044_*3045delinsTG) c.*2712_*2713delinsTG (n.*2712_*2713delinsTG) c.*5248_*5249delinsTG (n.*5248_*5249delinsTG) c.*2667_*2668delinsTG (n.*2667_*2668delinsTG) c.4329_4330delinsTG (p.Thr1443=) n.8156_8157delinsTG c.4695_4696delinsTG (p.Thr1565=) c.3972_3973delinsTG (p.Thr1324=) c.2523_2524delinsTG (p.Thr841=) | |
2 | g.165386920G>A | CA354201 | SCN2A | c.4726G>A (p.Gly1576Arg) c.*3045G>A (n.*3045G>A) c.*2713G>A (n.*2713G>A) c.*5249G>A (n.*5249G>A) c.*2668G>A (n.*2668G>A) c.4330G>A (p.Gly1444Arg) n.8157G>A c.4696G>A (p.Gly1566Arg) c.3973G>A (p.Gly1325Arg) c.2524G>A (p.Gly842Arg) | ClinVar dbSNP |
2 | g.165386920G>C | CA349036640 | SCN2A | c.4726G>C (p.Gly1576Arg) c.*3045G>C (n.*3045G>C) c.*2713G>C (n.*2713G>C) c.*5249G>C (n.*5249G>C) c.*2668G>C (n.*2668G>C) c.4330G>C (p.Gly1444Arg) n.8157G>C c.4696G>C (p.Gly1566Arg) c.3973G>C (p.Gly1325Arg) c.2524G>C (p.Gly842Arg) | |
2 | g.165386920G= | CA1304563803 | SCN2A | c.4726G= (p.Gly1576=) c.*3045G= (n.*3045G=) c.*2713G= (n.*2713G=) c.*5249G= (n.*5249G=) c.*2668G= (n.*2668G=) c.4330G= (p.Gly1444=) n.8157G= c.4696G= (p.Gly1566=) c.3973G= (p.Gly1325=) c.2524G= (p.Gly842=) | |
2 | g.165386920G>T | CA349036642 | SCN2A | c.4726G>T (p.Gly1576Ter) c.*3045G>T (n.*3045G>T) c.*2713G>T (n.*2713G>T) c.*5249G>T (n.*5249G>T) c.*2668G>T (n.*2668G>T) c.4330G>T (p.Gly1444Ter) n.8157G>T c.4696G>T (p.Gly1566Ter) c.3973G>T (p.Gly1325Ter) c.2524G>T (p.Gly842Ter) | dbSNP |
2 | g.165386921del | CA658821441 | SCN2A | c.4727del (p.Gly1576GlufsTer5) c.*3046del (n.*3046del) c.*2714del (n.*2714del) c.*5250del (n.*5250del) c.*2669del (n.*2669del) c.4331del (p.Gly1444GlufsTer5) n.8158del c.4697del (p.Gly1566GlufsTer5) c.3974del (p.Gly1325GlufsTer5) c.2525del (p.Gly842GlufsTer5) | ClinVar dbSNP |
2 | g.165386921G>A | CA349036644 | SCN2A | c.4727G>A (p.Gly1576Glu) c.*3046G>A (n.*3046G>A) c.*2714G>A (n.*2714G>A) c.*5250G>A (n.*5250G>A) c.*2669G>A (n.*2669G>A) c.4331G>A (p.Gly1444Glu) n.8158G>A c.4697G>A (p.Gly1566Glu) c.3974G>A (p.Gly1325Glu) c.2525G>A (p.Gly842Glu) | COSMIC COSMIC |
2 | g.165386921G>C | CA349036647 | SCN2A | c.4727G>C (p.Gly1576Ala) c.*3046G>C (n.*3046G>C) c.*2714G>C (n.*2714G>C) c.*5250G>C (n.*5250G>C) c.*2669G>C (n.*2669G>C) c.4331G>C (p.Gly1444Ala) n.8158G>C c.4697G>C (p.Gly1566Ala) c.3974G>C (p.Gly1325Ala) c.2525G>C (p.Gly842Ala) | |
2 | g.165386921G>T | CA349036646 | SCN2A | c.4727G>T (p.Gly1576Val) c.*3046G>T (n.*3046G>T) c.*2714G>T (n.*2714G>T) c.*5250G>T (n.*5250G>T) c.*2669G>T (n.*2669G>T) c.4331G>T (p.Gly1444Val) n.8158G>T c.4697G>T (p.Gly1566Val) c.3974G>T (p.Gly1325Val) c.2525G>T (p.Gly842Val) | |
2 | g.165386922A>C | CA429972415 | SCN2A | c.4728A>C (p.Gly1576=) c.*3047A>C (n.*3047A>C) c.*2715A>C (n.*2715A>C) c.*5251A>C (n.*5251A>C) c.*2670A>C (n.*2670A>C) c.4332A>C (p.Gly1444=) n.8159A>C c.4698A>C (p.Gly1566=) c.3975A>C (p.Gly1325=) c.2526A>C (p.Gly842=) | |
2 | g.165386922A>G | CA429972416 | SCN2A | c.4728A>G (p.Gly1576=) c.*3047A>G (n.*3047A>G) c.*2715A>G (n.*2715A>G) c.*5251A>G (n.*5251A>G) c.*2670A>G (n.*2670A>G) c.4332A>G (p.Gly1444=) n.8159A>G c.4698A>G (p.Gly1566=) c.3975A>G (p.Gly1325=) c.2526A>G (p.Gly842=) | |
2 | g.165386922A>T | CA429972417 | SCN2A | c.4728A>T (p.Gly1576=) c.*3047A>T (n.*3047A>T) c.*2715A>T (n.*2715A>T) c.*5251A>T (n.*5251A>T) c.*2670A>T (n.*2670A>T) c.4332A>T (p.Gly1444=) n.8159A>T c.4698A>T (p.Gly1566=) c.3975A>T (p.Gly1325=) c.2526A>T (p.Gly842=) | |
2 | g.165386923G>A | CA349036649 | SCN2A | c.4729G>A (p.Glu1577Lys) c.*3048G>A (n.*3048G>A) c.*2716G>A (n.*2716G>A) c.*5252G>A (n.*5252G>A) c.*2671G>A (n.*2671G>A) c.4333G>A (p.Glu1445Lys) n.8160G>A c.4699G>A (p.Glu1567Lys) c.3976G>A (p.Glu1326Lys) c.2527G>A (p.Glu843Lys) | |
2 | g.165386923G>C | CA349036650 | SCN2A | c.4729G>C (p.Glu1577Gln) c.*3048G>C (n.*3048G>C) c.*2716G>C (n.*2716G>C) c.*5252G>C (n.*5252G>C) c.*2671G>C (n.*2671G>C) c.4333G>C (p.Glu1445Gln) n.8160G>C c.4699G>C (p.Glu1567Gln) c.3976G>C (p.Glu1326Gln) c.2527G>C (p.Glu843Gln) | |
2 | g.165386923G= | CA1304563804 | SCN2A | c.4729G= (p.Glu1577=) c.*3048G= (n.*3048G=) c.*2716G= (n.*2716G=) c.*5252G= (n.*5252G=) c.*2671G= (n.*2671G=) c.4333G= (p.Glu1445=) n.8160G= c.4699G= (p.Glu1567=) c.3976G= (p.Glu1326=) c.2527G= (p.Glu843=) | |
2 | g.165386923G>T | CA349036652 | SCN2A | c.4729G>T (p.Glu1577Ter) c.*3048G>T (n.*3048G>T) c.*2716G>T (n.*2716G>T) c.*5252G>T (n.*5252G>T) c.*2671G>T (n.*2671G>T) c.4333G>T (p.Glu1445Ter) n.8160G>T c.4699G>T (p.Glu1567Ter) c.3976G>T (p.Glu1326Ter) c.2527G>T (p.Glu843Ter) | dbSNP |
2 | g.165386924A>C | CA349036653 | SCN2A | c.4730A>C (p.Glu1577Ala) c.*3049A>C (n.*3049A>C) c.*2717A>C (n.*2717A>C) c.*5253A>C (n.*5253A>C) c.*2672A>C (n.*2672A>C) c.4334A>C (p.Glu1445Ala) n.8161A>C c.4700A>C (p.Glu1567Ala) c.3977A>C (p.Glu1326Ala) c.2528A>C (p.Glu843Ala) | |
2 | g.165386924A>G | CA349036655 | SCN2A | c.4730A>G (p.Glu1577Gly) c.*3049A>G (n.*3049A>G) c.*2717A>G (n.*2717A>G) c.*5253A>G (n.*5253A>G) c.*2672A>G (n.*2672A>G) c.4334A>G (p.Glu1445Gly) n.8161A>G c.4700A>G (p.Glu1567Gly) c.3977A>G (p.Glu1326Gly) c.2528A>G (p.Glu843Gly) | ClinVar |
2 | g.165386924A>T | CA349036656 | SCN2A | c.4730A>T (p.Glu1577Val) c.*3049A>T (n.*3049A>T) c.*2717A>T (n.*2717A>T) c.*5253A>T (n.*5253A>T) c.*2672A>T (n.*2672A>T) c.4334A>T (p.Glu1445Val) n.8161A>T c.4700A>T (p.Glu1567Val) c.3977A>T (p.Glu1326Val) c.2528A>T (p.Glu843Val) | |
2 | g.165386925A>C | CA349036658 | SCN2A | c.4731A>C (p.Glu1577Asp) c.*3050A>C (n.*3050A>C) c.*2718A>C (n.*2718A>C) c.*5254A>C (n.*5254A>C) c.*2673A>C (n.*2673A>C) c.4335A>C (p.Glu1445Asp) n.8162A>C c.4701A>C (p.Glu1567Asp) c.3978A>C (p.Glu1326Asp) c.2529A>C (p.Glu843Asp) | |
2 | g.165386925A>G | CA429972419 | SCN2A | c.4731A>G (p.Glu1577=) c.*3050A>G (n.*3050A>G) c.*2718A>G (n.*2718A>G) c.*5254A>G (n.*5254A>G) c.*2673A>G (n.*2673A>G) c.4335A>G (p.Glu1445=) n.8162A>G c.4701A>G (p.Glu1567=) c.3978A>G (p.Glu1326=) c.2529A>G (p.Glu843=) | |
2 | g.165386925A>T | CA349036660 | SCN2A | c.4731A>T (p.Glu1577Asp) c.*3050A>T (n.*3050A>T) c.*2718A>T (n.*2718A>T) c.*5254A>T (n.*5254A>T) c.*2673A>T (n.*2673A>T) c.4335A>T (p.Glu1445Asp) n.8162A>T c.4701A>T (p.Glu1567Asp) c.3978A>T (p.Glu1326Asp) c.2529A>T (p.Glu843Asp) | |
2 | g.165386926T>A | CA349036661 | SCN2A | c.4732T>A (p.Cys1578Ser) c.*3051T>A (n.*3051T>A) c.*2719T>A (n.*2719T>A) c.*5255T>A (n.*5255T>A) c.*2674T>A (n.*2674T>A) c.4336T>A (p.Cys1446Ser) n.8163T>A c.4702T>A (p.Cys1568Ser) c.3979T>A (p.Cys1327Ser) c.2530T>A (p.Cys844Ser) | |
2 | g.165386926T>C | CA349036663 | SCN2A | c.4732T>C (p.Cys1578Arg) c.*3051T>C (n.*3051T>C) c.*2719T>C (n.*2719T>C) c.*5255T>C (n.*5255T>C) c.*2674T>C (n.*2674T>C) c.4336T>C (p.Cys1446Arg) n.8163T>C c.4702T>C (p.Cys1568Arg) c.3979T>C (p.Cys1327Arg) c.2530T>C (p.Cys844Arg) | |
2 | g.165386926T>G | CA349036664 | SCN2A | c.4732T>G (p.Cys1578Gly) c.*3051T>G (n.*3051T>G) c.*2719T>G (n.*2719T>G) c.*5255T>G (n.*5255T>G) c.*2674T>G (n.*2674T>G) c.4336T>G (p.Cys1446Gly) n.8163T>G c.4702T>G (p.Cys1568Gly) c.3979T>G (p.Cys1327Gly) c.2530T>G (p.Cys844Gly) | ClinVar dbSNP |
2 | g.165386926T= | CA1304563805 | SCN2A | c.4732T= (p.Cys1578=) c.*3051T= (n.*3051T=) c.*2719T= (n.*2719T=) c.*5255T= (n.*5255T=) c.*2674T= (n.*2674T=) c.4336T= (p.Cys1446=) n.8163T= c.4702T= (p.Cys1568=) c.3979T= (p.Cys1327=) c.2530T= (p.Cys844=) | |
2 | g.165386927G>A | CA349036670 | SCN2A | c.4733G>A (p.Cys1578Tyr) c.*3052G>A (n.*3052G>A) c.*2720G>A (n.*2720G>A) c.*5256G>A (n.*5256G>A) c.*2675G>A (n.*2675G>A) c.4337G>A (p.Cys1446Tyr) n.8164G>A c.4703G>A (p.Cys1568Tyr) c.3980G>A (p.Cys1327Tyr) c.2531G>A (p.Cys844Tyr) | |
2 | g.165386927G>C | CA349036668 | SCN2A | c.4733G>C (p.Cys1578Ser) c.*3052G>C (n.*3052G>C) c.*2720G>C (n.*2720G>C) c.*5256G>C (n.*5256G>C) c.*2675G>C (n.*2675G>C) c.4337G>C (p.Cys1446Ser) n.8164G>C c.4703G>C (p.Cys1568Ser) c.3980G>C (p.Cys1327Ser) c.2531G>C (p.Cys844Ser) | |
2 | g.165386927G>T | CA349036667 | SCN2A | c.4733G>T (p.Cys1578Phe) c.*3052G>T (n.*3052G>T) c.*2720G>T (n.*2720G>T) c.*5256G>T (n.*5256G>T) c.*2675G>T (n.*2675G>T) c.4337G>T (p.Cys1446Phe) n.8164G>T c.4703G>T (p.Cys1568Phe) c.3980G>T (p.Cys1327Phe) c.2531G>T (p.Cys844Phe) | |
2 | g.165386928T>A | CA349036671 | SCN2A | c.4734T>A (p.Cys1578Ter) c.*3053T>A (n.*3053T>A) c.*2721T>A (n.*2721T>A) c.*5257T>A (n.*5257T>A) c.*2676T>A (n.*2676T>A) c.4338T>A (p.Cys1446Ter) n.8165T>A c.4704T>A (p.Cys1568Ter) c.3981T>A (p.Cys1327Ter) c.2532T>A (p.Cys844Ter) | dbSNP |
2 | g.165386928T>C | CA429972423 | SCN2A | c.4734T>C (p.Cys1578=) c.*3053T>C (n.*3053T>C) c.*2721T>C (n.*2721T>C) c.*5257T>C (n.*5257T>C) c.*2676T>C (n.*2676T>C) c.4338T>C (p.Cys1446=) n.8165T>C c.4704T>C (p.Cys1568=) c.3981T>C (p.Cys1327=) c.2532T>C (p.Cys844=) | gnomAD v4 |
2 | g.165386928T>G | CA349036672 | SCN2A | c.4734T>G (p.Cys1578Trp) c.*3053T>G (n.*3053T>G) c.*2721T>G (n.*2721T>G) c.*5257T>G (n.*5257T>G) c.*2676T>G (n.*2676T>G) c.4338T>G (p.Cys1446Trp) n.8165T>G c.4704T>G (p.Cys1568Trp) c.3981T>G (p.Cys1327Trp) c.2532T>G (p.Cys844Trp) | |
2 | g.165386928T= | CA1304563806 | SCN2A | c.4734T= (p.Cys1578=) c.*3053T= (n.*3053T=) c.*2721T= (n.*2721T=) c.*5257T= (n.*5257T=) c.*2676T= (n.*2676T=) c.4338T= (p.Cys1446=) n.8165T= c.4704T= (p.Cys1568=) c.3981T= (p.Cys1327=) c.2532T= (p.Cys844=) | |
2 | g.165386929G>A | CA349036674 | SCN2A | c.4735G>A (p.Val1579Met) c.*3054G>A (n.*3054G>A) c.*2722G>A (n.*2722G>A) c.*5258G>A (n.*5258G>A) c.*2677G>A (n.*2677G>A) c.4339G>A (p.Val1447Met) n.8166G>A c.4705G>A (p.Val1569Met) c.3982G>A (p.Val1328Met) c.2533G>A (p.Val845Met) | |
2 | g.165386929G>C | CA349036676 | SCN2A | c.4735G>C (p.Val1579Leu) c.*3054G>C (n.*3054G>C) c.*2722G>C (n.*2722G>C) c.*5258G>C (n.*5258G>C) c.*2677G>C (n.*2677G>C) c.4339G>C (p.Val1447Leu) n.8166G>C c.4705G>C (p.Val1569Leu) c.3982G>C (p.Val1328Leu) c.2533G>C (p.Val845Leu) | |
2 | g.165386929G>T | CA349036677 | SCN2A | c.4735G>T (p.Val1579Leu) c.*3054G>T (n.*3054G>T) c.*2722G>T (n.*2722G>T) c.*5258G>T (n.*5258G>T) c.*2677G>T (n.*2677G>T) c.4339G>T (p.Val1447Leu) n.8166G>T c.4705G>T (p.Val1569Leu) c.3982G>T (p.Val1328Leu) c.2533G>T (p.Val845Leu) | |
2 | g.165386930T>A | CA349036678 | SCN2A | c.4736T>A (p.Val1579Glu) c.*3055T>A (n.*3055T>A) c.*2723T>A (n.*2723T>A) c.*5259T>A (n.*5259T>A) c.*2678T>A (n.*2678T>A) c.4340T>A (p.Val1447Glu) n.8167T>A c.4706T>A (p.Val1569Glu) c.3983T>A (p.Val1328Glu) c.2534T>A (p.Val845Glu) | |
2 | g.165386930T>C | CA349036680 | SCN2A | c.4736T>C (p.Val1579Ala) c.*3055T>C (n.*3055T>C) c.*2723T>C (n.*2723T>C) c.*5259T>C (n.*5259T>C) c.*2678T>C (n.*2678T>C) c.4340T>C (p.Val1447Ala) n.8167T>C c.4706T>C (p.Val1569Ala) c.3983T>C (p.Val1328Ala) c.2534T>C (p.Val845Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.165386930T>G | CA349036682 | SCN2A | c.4736T>G (p.Val1579Gly) c.*3055T>G (n.*3055T>G) c.*2723T>G (n.*2723T>G) c.*5259T>G (n.*5259T>G) c.*2678T>G (n.*2678T>G) c.4340T>G (p.Val1447Gly) n.8167T>G c.4706T>G (p.Val1569Gly) c.3983T>G (p.Val1328Gly) c.2534T>G (p.Val845Gly) | |
2 | g.165386930T= | CA1304563807 | SCN2A | c.4736T= (p.Val1579=) c.*3055T= (n.*3055T=) c.*2723T= (n.*2723T=) c.*5259T= (n.*5259T=) c.*2678T= (n.*2678T=) c.4340T= (p.Val1447=) n.8167T= c.4706T= (p.Val1569=) c.3983T= (p.Val1328=) c.2534T= (p.Val845=) | |
2 | g.165386931G>A | CA429972424 | SCN2A | c.4737G>A (p.Val1579=) c.*3056G>A (n.*3056G>A) c.*2724G>A (n.*2724G>A) c.*5260G>A (n.*5260G>A) c.*2679G>A (n.*2679G>A) c.4341G>A (p.Val1447=) n.8168G>A c.4707G>A (p.Val1569=) c.3984G>A (p.Val1328=) c.2535G>A (p.Val845=) | gnomAD v4 |
2 | g.165386931G>C | CA429972425 | SCN2A | c.4737G>C (p.Val1579=) c.*3056G>C (n.*3056G>C) c.*2724G>C (n.*2724G>C) c.*5260G>C (n.*5260G>C) c.*2679G>C (n.*2679G>C) c.4341G>C (p.Val1447=) n.8168G>C c.4707G>C (p.Val1569=) c.3984G>C (p.Val1328=) c.2535G>C (p.Val845=) | |
2 | g.165386931G>T | CA429972426 | SCN2A | c.4737G>T (p.Val1579=) c.*3056G>T (n.*3056G>T) c.*2724G>T (n.*2724G>T) c.*5260G>T (n.*5260G>T) c.*2679G>T (n.*2679G>T) c.4341G>T (p.Val1447=) n.8168G>T c.4707G>T (p.Val1569=) c.3984G>T (p.Val1328=) c.2535G>T (p.Val845=) | |
2 | g.165386932C>A | CA349036683 | SCN2A | c.4738C>A (p.Leu1580Met) c.*3057C>A (n.*3057C>A) c.*2725C>A (n.*2725C>A) c.*5261C>A (n.*5261C>A) c.*2680C>A (n.*2680C>A) c.4342C>A (p.Leu1448Met) n.8169C>A c.4708C>A (p.Leu1570Met) c.3985C>A (p.Leu1329Met) c.2536C>A (p.Leu846Met) | |
2 | g.165386932C>G | CA349036685 | SCN2A | c.4738C>G (p.Leu1580Val) c.*3057C>G (n.*3057C>G) c.*2725C>G (n.*2725C>G) c.*5261C>G (n.*5261C>G) c.*2680C>G (n.*2680C>G) c.4342C>G (p.Leu1448Val) n.8169C>G c.4708C>G (p.Leu1570Val) c.3985C>G (p.Leu1329Val) c.2536C>G (p.Leu846Val) | |
2 | g.165386932C>T | CA429972427 | SCN2A | c.4738C>T (p.Leu1580=) c.*3057C>T (n.*3057C>T) c.*2725C>T (n.*2725C>T) c.*5261C>T (n.*5261C>T) c.*2680C>T (n.*2680C>T) c.4342C>T (p.Leu1448=) n.8169C>T c.4708C>T (p.Leu1570=) c.3985C>T (p.Leu1329=) c.2536C>T (p.Leu846=) | ClinVar |
2 | g.165386933T>A | CA349036686 | SCN2A | c.4739T>A (p.Leu1580Gln) c.*3058T>A (n.*3058T>A) c.*2726T>A (n.*2726T>A) c.*5262T>A (n.*5262T>A) c.*2681T>A (n.*2681T>A) c.4343T>A (p.Leu1448Gln) n.8170T>A c.4709T>A (p.Leu1570Gln) c.3986T>A (p.Leu1329Gln) c.2537T>A (p.Leu846Gln) | |
2 | g.165386933T>C | CA349036687 | SCN2A | c.4739T>C (p.Leu1580Pro) c.*3058T>C (n.*3058T>C) c.*2726T>C (n.*2726T>C) c.*5262T>C (n.*5262T>C) c.*2681T>C (n.*2681T>C) c.4343T>C (p.Leu1448Pro) n.8170T>C c.4709T>C (p.Leu1570Pro) c.3986T>C (p.Leu1329Pro) c.2537T>C (p.Leu846Pro) | |
2 | g.165386933T>G | CA349036689 | SCN2A | c.4739T>G (p.Leu1580Arg) c.*3058T>G (n.*3058T>G) c.*2726T>G (n.*2726T>G) c.*5262T>G (n.*5262T>G) c.*2681T>G (n.*2681T>G) c.4343T>G (p.Leu1448Arg) n.8170T>G c.4709T>G (p.Leu1570Arg) c.3986T>G (p.Leu1329Arg) c.2537T>G (p.Leu846Arg) | |
2 | g.165386934G>A | CA429972431 | SCN2A | c.4740G>A (p.Leu1580=) c.*3059G>A (n.*3059G>A) c.*2727G>A (n.*2727G>A) c.*5263G>A (n.*5263G>A) c.*2682G>A (n.*2682G>A) c.4344G>A (p.Leu1448=) n.8171G>A c.4710G>A (p.Leu1570=) c.3987G>A (p.Leu1329=) c.2538G>A (p.Leu846=) | |
2 | g.165386934G>C | CA429972429 | SCN2A | c.4740G>C (p.Leu1580=) c.*3059G>C (n.*3059G>C) c.*2727G>C (n.*2727G>C) c.*5263G>C (n.*5263G>C) c.*2682G>C (n.*2682G>C) c.4344G>C (p.Leu1448=) n.8171G>C c.4710G>C (p.Leu1570=) c.3987G>C (p.Leu1329=) c.2538G>C (p.Leu846=) | |
2 | g.165386934G>T | CA429972428 | SCN2A | c.4740G>T (p.Leu1580=) c.*3059G>T (n.*3059G>T) c.*2727G>T (n.*2727G>T) c.*5263G>T (n.*5263G>T) c.*2682G>T (n.*2682G>T) c.4344G>T (p.Leu1448=) n.8171G>T c.4710G>T (p.Leu1570=) c.3987G>T (p.Leu1329=) c.2538G>T (p.Leu846=) | |
2 | g.165386935A= | CA1304563808 | SCN2A | c.4741A= (p.Lys1581=) c.*3060A= (n.*3060A=) c.*2728A= (n.*2728A=) c.*5264A= (n.*5264A=) c.*2683A= (n.*2683A=) c.4345A= (p.Lys1449=) n.8172A= c.4711A= (p.Lys1571=) c.3988A= (p.Lys1330=) c.2539A= (p.Lys847=) | |
2 | g.165386935A>C | CA349036692 | SCN2A | c.4741A>C (p.Lys1581Gln) c.*3060A>C (n.*3060A>C) c.*2728A>C (n.*2728A>C) c.*5264A>C (n.*5264A>C) c.*2683A>C (n.*2683A>C) c.4345A>C (p.Lys1449Gln) n.8172A>C c.4711A>C (p.Lys1571Gln) c.3988A>C (p.Lys1330Gln) c.2539A>C (p.Lys847Gln) | |
2 | g.165386935A>G | CA349036694 | SCN2A | c.4741A>G (p.Lys1581Glu) c.*3060A>G (n.*3060A>G) c.*2728A>G (n.*2728A>G) c.*5264A>G (n.*5264A>G) c.*2683A>G (n.*2683A>G) c.4345A>G (p.Lys1449Glu) n.8172A>G c.4711A>G (p.Lys1571Glu) c.3988A>G (p.Lys1330Glu) c.2539A>G (p.Lys847Glu) | |
2 | g.165386935A>T | CA349036691 | SCN2A | c.4741A>T (p.Lys1581Ter) c.*3060A>T (n.*3060A>T) c.*2728A>T (n.*2728A>T) c.*5264A>T (n.*5264A>T) c.*2683A>T (n.*2683A>T) c.4345A>T (p.Lys1449Ter) n.8172A>T c.4711A>T (p.Lys1571Ter) c.3988A>T (p.Lys1330Ter) c.2539A>T (p.Lys847Ter) | dbSNP |
2 | g.165386935_165386936insT | CA2506734618 | SCN2A | c.4741_4742insT (p.Lys1581IlefsTer18) c.*3060_*3061insT (n.*3060_*3061insT) c.*2728_*2729insT (n.*2728_*2729insT) c.*5264_*5265insT (n.*5264_*5265insT) c.*2683_*2684insT (n.*2683_*2684insT) c.4345_4346insT (p.Lys1449IlefsTer18) n.8172_8173insT c.4711_4712insT (p.Lys1571IlefsTer18) c.3988_3989insT (p.Lys1330IlefsTer18) c.2539_2540insT (p.Lys847IlefsTer18) | |
2 | g.165386936A>C | CA349036699 | SCN2A | c.4742A>C (p.Lys1581Thr) c.*3061A>C (n.*3061A>C) c.*2729A>C (n.*2729A>C) c.*5265A>C (n.*5265A>C) c.*2684A>C (n.*2684A>C) c.4346A>C (p.Lys1449Thr) n.8173A>C c.4712A>C (p.Lys1571Thr) c.3989A>C (p.Lys1330Thr) c.2540A>C (p.Lys847Thr) | |
2 | g.165386936A>G | CA349036695 | SCN2A | c.4742A>G (p.Lys1581Arg) c.*3061A>G (n.*3061A>G) c.*2729A>G (n.*2729A>G) c.*5265A>G (n.*5265A>G) c.*2684A>G (n.*2684A>G) c.4346A>G (p.Lys1449Arg) n.8173A>G c.4712A>G (p.Lys1571Arg) c.3989A>G (p.Lys1330Arg) c.2540A>G (p.Lys847Arg) | |
2 | g.165386936A>T | CA349036697 | SCN2A | c.4742A>T (p.Lys1581Ile) c.*3061A>T (n.*3061A>T) c.*2729A>T (n.*2729A>T) c.*5265A>T (n.*5265A>T) c.*2684A>T (n.*2684A>T) c.4346A>T (p.Lys1449Ile) n.8173A>T c.4712A>T (p.Lys1571Ile) c.3989A>T (p.Lys1330Ile) c.2540A>T (p.Lys847Ile) | |
2 | g.165386936_165386937insTCAAAGACTTGTTTGGTTACAAAATCAAAG | CA2546252712 | SCN2A | c.4742_4743insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1581delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg) c.*3061_*3062insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*3061_*3062insTCAAAGACTTGTTTGGTTACAAAATCAAAG) c.*2729_*2730insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*2729_*2730insTCAAAGACTTGTTTGGTTACAAAATCAAAG) c.*5265_*5266insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*5265_*5266insTCAAAGACTTGTTTGGTTACAAAATCAAAG) c.*2684_*2685insTCAAAGACTTGTTTGGTTACAAAATCAAAG (n.*2684_*2685insTCAAAGACTTGTTTGGTTACAAAATCAAAG) c.4346_4347insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1449delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg) n.8173_8174insTCAAAGACTTGTTTGGTTACAAAATCAAAG c.4712_4713insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1571delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg) c.3989_3990insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys1330delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg) c.2540_2541insTCAAAGACTTGTTTGGTTACAAAATCAAAG (p.Lys847delinsAsnGlnArgLeuValTrpLeuGlnAsnGlnArg) | |
2 | g.165386937A>C | CA349036701 | SCN2A | c.4743A>C (p.Lys1581Asn) c.*3062A>C (n.*3062A>C) c.*2730A>C (n.*2730A>C) c.*5266A>C (n.*5266A>C) c.*2685A>C (n.*2685A>C) c.4347A>C (p.Lys1449Asn) n.8174A>C c.4713A>C (p.Lys1571Asn) c.3990A>C (p.Lys1330Asn) c.2541A>C (p.Lys847Asn) | |
2 | g.165386937A>G | CA429972433 | SCN2A | c.4743A>G (p.Lys1581=) c.*3062A>G (n.*3062A>G) c.*2730A>G (n.*2730A>G) c.*5266A>G (n.*5266A>G) c.*2685A>G (n.*2685A>G) c.4347A>G (p.Lys1449=) n.8174A>G c.4713A>G (p.Lys1571=) c.3990A>G (p.Lys1330=) c.2541A>G (p.Lys847=) | |
2 | g.165386937A>T | CA349036702 | SCN2A | c.4743A>T (p.Lys1581Asn) c.*3062A>T (n.*3062A>T) c.*2730A>T (n.*2730A>T) c.*5266A>T (n.*5266A>T) c.*2685A>T (n.*2685A>T) c.4347A>T (p.Lys1449Asn) n.8174A>T c.4713A>T (p.Lys1571Asn) c.3990A>T (p.Lys1330Asn) c.2541A>T (p.Lys847Asn) | |
2 | g.165386938C>A | CA349036703 | SCN2A | c.4744C>A (p.Leu1582Met) c.*3063C>A (n.*3063C>A) c.*2731C>A (n.*2731C>A) c.*5267C>A (n.*5267C>A) c.*2686C>A (n.*2686C>A) c.4348C>A (p.Leu1450Met) n.8175C>A c.4714C>A (p.Leu1572Met) c.3991C>A (p.Leu1331Met) c.2542C>A (p.Leu848Met) | |
2 | g.165386938C>G | CA349036705 | SCN2A | c.4744C>G (p.Leu1582Val) c.*3063C>G (n.*3063C>G) c.*2731C>G (n.*2731C>G) c.*5267C>G (n.*5267C>G) c.*2686C>G (n.*2686C>G) c.4348C>G (p.Leu1450Val) n.8175C>G c.4714C>G (p.Leu1572Val) c.3991C>G (p.Leu1331Val) c.2542C>G (p.Leu848Val) | |
2 | g.165386938C>T | CA429972435 | SCN2A | c.4744C>T (p.Leu1582=) c.*3063C>T (n.*3063C>T) c.*2731C>T (n.*2731C>T) c.*5267C>T (n.*5267C>T) c.*2686C>T (n.*2686C>T) c.4348C>T (p.Leu1450=) n.8175C>T c.4714C>T (p.Leu1572=) c.3991C>T (p.Leu1331=) c.2542C>T (p.Leu848=) | |
2 | g.165386939T>A | CA349036707 | SCN2A | c.4745T>A (p.Leu1582Gln) c.*3064T>A (n.*3064T>A) c.*2732T>A (n.*2732T>A) c.*5268T>A (n.*5268T>A) c.*2687T>A (n.*2687T>A) c.4349T>A (p.Leu1450Gln) n.8176T>A c.4715T>A (p.Leu1572Gln) c.3992T>A (p.Leu1331Gln) c.2543T>A (p.Leu848Gln) | |
2 | g.165386939T>C | CA349036708 | SCN2A | c.4745T>C (p.Leu1582Pro) c.*3064T>C (n.*3064T>C) c.*2732T>C (n.*2732T>C) c.*5268T>C (n.*5268T>C) c.*2687T>C (n.*2687T>C) c.4349T>C (p.Leu1450Pro) n.8176T>C c.4715T>C (p.Leu1572Pro) c.3992T>C (p.Leu1331Pro) c.2543T>C (p.Leu848Pro) | ClinVar dbSNP |
2 | g.165386939T>G | CA349036710 | SCN2A | c.4745T>G (p.Leu1582Arg) c.*3064T>G (n.*3064T>G) c.*2732T>G (n.*2732T>G) c.*5268T>G (n.*5268T>G) c.*2687T>G (n.*2687T>G) c.4349T>G (p.Leu1450Arg) n.8176T>G c.4715T>G (p.Leu1572Arg) c.3992T>G (p.Leu1331Arg) c.2543T>G (p.Leu848Arg) | |
2 | g.165386939T= | CA1304563809 | SCN2A | c.4745T= (p.Leu1582=) c.*3064T= (n.*3064T=) c.*2732T= (n.*2732T=) c.*5268T= (n.*5268T=) c.*2687T= (n.*2687T=) c.4349T= (p.Leu1450=) n.8176T= c.4715T= (p.Leu1572=) c.3992T= (p.Leu1331=) c.2543T= (p.Leu848=) | |
2 | g.165386940G>A | CA429972436 | SCN2A | c.4746G>A (p.Leu1582=) c.*3065G>A (n.*3065G>A) c.*2733G>A (n.*2733G>A) c.*5269G>A (n.*5269G>A) c.*2688G>A (n.*2688G>A) c.4350G>A (p.Leu1450=) n.8177G>A c.4716G>A (p.Leu1572=) c.3993G>A (p.Leu1331=) c.2544G>A (p.Leu848=) | |
2 | g.165386940G>C | CA429972437 | SCN2A | c.4746G>C (p.Leu1582=) c.*3065G>C (n.*3065G>C) c.*2733G>C (n.*2733G>C) c.*5269G>C (n.*5269G>C) c.*2688G>C (n.*2688G>C) c.4350G>C (p.Leu1450=) n.8177G>C c.4716G>C (p.Leu1572=) c.3993G>C (p.Leu1331=) c.2544G>C (p.Leu848=) | |
2 | g.165386940G>T | CA429972438 | SCN2A | c.4746G>T (p.Leu1582=) c.*3065G>T (n.*3065G>T) c.*2733G>T (n.*2733G>T) c.*5269G>T (n.*5269G>T) c.*2688G>T (n.*2688G>T) c.4350G>T (p.Leu1450=) n.8177G>T c.4716G>T (p.Leu1572=) c.3993G>T (p.Leu1331=) c.2544G>T (p.Leu848=) | |
2 | g.165386941A= | CA1304563810 | SCN2A | c.4747A= (p.Ile1583=) c.*3066A= (n.*3066A=) c.*2734A= (n.*2734A=) c.*5270A= (n.*5270A=) c.*2689A= (n.*2689A=) c.4351A= (p.Ile1451=) n.8178A= c.4717A= (p.Ile1573=) c.3994A= (p.Ile1332=) c.2545A= (p.Ile849=) | |
2 | g.165386941A>C | CA349036712 | SCN2A | c.4747A>C (p.Ile1583Leu) c.*3066A>C (n.*3066A>C) c.*2734A>C (n.*2734A>C) c.*5270A>C (n.*5270A>C) c.*2689A>C (n.*2689A>C) c.4351A>C (p.Ile1451Leu) n.8178A>C c.4717A>C (p.Ile1573Leu) c.3994A>C (p.Ile1332Leu) c.2545A>C (p.Ile849Leu) | |
2 | g.165386941A>G | CA349036713 | SCN2A | c.4747A>G (p.Ile1583Val) c.*3066A>G (n.*3066A>G) c.*2734A>G (n.*2734A>G) c.*5270A>G (n.*5270A>G) c.*2689A>G (n.*2689A>G) c.4351A>G (p.Ile1451Val) n.8178A>G c.4717A>G (p.Ile1573Val) c.3994A>G (p.Ile1332Val) c.2545A>G (p.Ile849Val) | |
2 | g.165386941A>T | CA349036715 | SCN2A | c.4747A>T (p.Ile1583Phe) c.*3066A>T (n.*3066A>T) c.*2734A>T (n.*2734A>T) c.*5270A>T (n.*5270A>T) c.*2689A>T (n.*2689A>T) c.4351A>T (p.Ile1451Phe) n.8178A>T c.4717A>T (p.Ile1573Phe) c.3994A>T (p.Ile1332Phe) c.2545A>T (p.Ile849Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386942T>A | CA349036718 | SCN2A | c.4748T>A (p.Ile1583Asn) c.*3067T>A (n.*3067T>A) c.*2735T>A (n.*2735T>A) c.*5271T>A (n.*5271T>A) c.*2690T>A (n.*2690T>A) c.4352T>A (p.Ile1451Asn) n.8179T>A c.4718T>A (p.Ile1573Asn) c.3995T>A (p.Ile1332Asn) c.2546T>A (p.Ile849Asn) | |
2 | g.165386942T>C | CA1940316 | SCN2A | c.4748T>C (p.Ile1583Thr) c.*3067T>C (n.*3067T>C) c.*2735T>C (n.*2735T>C) c.*5271T>C (n.*5271T>C) c.*2690T>C (n.*2690T>C) c.4352T>C (p.Ile1451Thr) n.8179T>C c.4718T>C (p.Ile1573Thr) c.3995T>C (p.Ile1332Thr) c.2546T>C (p.Ile849Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386942T>G | CA349036717 | SCN2A | c.4748T>G (p.Ile1583Ser) c.*3067T>G (n.*3067T>G) c.*2735T>G (n.*2735T>G) c.*5271T>G (n.*5271T>G) c.*2690T>G (n.*2690T>G) c.4352T>G (p.Ile1451Ser) n.8179T>G c.4718T>G (p.Ile1573Ser) c.3995T>G (p.Ile1332Ser) c.2546T>G (p.Ile849Ser) | |
2 | g.165386942T= | CA1304563811 | SCN2A | c.4748T= (p.Ile1583=) c.*3067T= (n.*3067T=) c.*2735T= (n.*2735T=) c.*5271T= (n.*5271T=) c.*2690T= (n.*2690T=) c.4352T= (p.Ile1451=) n.8179T= c.4718T= (p.Ile1573=) c.3995T= (p.Ile1332=) c.2546T= (p.Ile849=) | |
2 | g.165386943C>A | CA429972440 | SCN2A | c.4749C>A (p.Ile1583=) c.*3068C>A (n.*3068C>A) c.*2736C>A (n.*2736C>A) c.*5272C>A (n.*5272C>A) c.*2691C>A (n.*2691C>A) c.4353C>A (p.Ile1451=) n.8180C>A c.4719C>A (p.Ile1573=) c.3996C>A (p.Ile1332=) c.2547C>A (p.Ile849=) | |
2 | g.165386943C>G | CA349036720 | SCN2A | c.4749C>G (p.Ile1583Met) c.*3068C>G (n.*3068C>G) c.*2736C>G (n.*2736C>G) c.*5272C>G (n.*5272C>G) c.*2691C>G (n.*2691C>G) c.4353C>G (p.Ile1451Met) n.8180C>G c.4719C>G (p.Ile1573Met) c.3996C>G (p.Ile1332Met) c.2547C>G (p.Ile849Met) | |
2 | g.165386943C>T | CA429972441 | SCN2A | c.4749C>T (p.Ile1583=) c.*3068C>T (n.*3068C>T) c.*2736C>T (n.*2736C>T) c.*5272C>T (n.*5272C>T) c.*2691C>T (n.*2691C>T) c.4353C>T (p.Ile1451=) n.8180C>T c.4719C>T (p.Ile1573=) c.3996C>T (p.Ile1332=) c.2547C>T (p.Ile849=) | |
2 | g.165386944T>A | CA349036722 | SCN2A | c.4750T>A (p.Ser1584Thr) c.*3069T>A (n.*3069T>A) c.*2737T>A (n.*2737T>A) c.*5273T>A (n.*5273T>A) c.*2692T>A (n.*2692T>A) c.4354T>A (p.Ser1452Thr) n.8181T>A c.4720T>A (p.Ser1574Thr) c.3997T>A (p.Ser1333Thr) c.2548T>A (p.Ser850Thr) | |
2 | g.165386944T>C | CA349036723 | SCN2A | c.4750T>C (p.Ser1584Pro) c.*3069T>C (n.*3069T>C) c.*2737T>C (n.*2737T>C) c.*5273T>C (n.*5273T>C) c.*2692T>C (n.*2692T>C) c.4354T>C (p.Ser1452Pro) n.8181T>C c.4720T>C (p.Ser1574Pro) c.3997T>C (p.Ser1333Pro) c.2548T>C (p.Ser850Pro) | |
2 | g.165386944T>G | CA349036725 | SCN2A | c.4750T>G (p.Ser1584Ala) c.*3069T>G (n.*3069T>G) c.*2737T>G (n.*2737T>G) c.*5273T>G (n.*5273T>G) c.*2692T>G (n.*2692T>G) c.4354T>G (p.Ser1452Ala) n.8181T>G c.4720T>G (p.Ser1574Ala) c.3997T>G (p.Ser1333Ala) c.2548T>G (p.Ser850Ala) | |
2 | g.165386945C>A | CA349036727 | SCN2A | c.4751C>A (p.Ser1584Tyr) c.*3070C>A (n.*3070C>A) c.*2738C>A (n.*2738C>A) c.*5274C>A (n.*5274C>A) c.*2693C>A (n.*2693C>A) c.4355C>A (p.Ser1452Tyr) n.8182C>A c.4721C>A (p.Ser1574Tyr) c.3998C>A (p.Ser1333Tyr) c.2549C>A (p.Ser850Tyr) | |
2 | g.165386945C= | CA1304563812 | SCN2A | c.4751C= (p.Ser1584=) c.*3070C= (n.*3070C=) c.*2738C= (n.*2738C=) c.*5274C= (n.*5274C=) c.*2693C= (n.*2693C=) c.4355C= (p.Ser1452=) n.8182C= c.4721C= (p.Ser1574=) c.3998C= (p.Ser1333=) c.2549C= (p.Ser850=) | |
2 | g.165386945C>G | CA349036728 | SCN2A | c.4751C>G (p.Ser1584Cys) c.*3070C>G (n.*3070C>G) c.*2738C>G (n.*2738C>G) c.*5274C>G (n.*5274C>G) c.*2693C>G (n.*2693C>G) c.4355C>G (p.Ser1452Cys) n.8182C>G c.4721C>G (p.Ser1574Cys) c.3998C>G (p.Ser1333Cys) c.2549C>G (p.Ser850Cys) | gnomAD v4 |
2 | g.165386945C>T | CA318006 | SCN2A | c.4751C>T (p.Ser1584Phe) c.*3070C>T (n.*3070C>T) c.*2738C>T (n.*2738C>T) c.*5274C>T (n.*5274C>T) c.*2693C>T (n.*2693C>T) c.4355C>T (p.Ser1452Phe) n.8182C>T c.4721C>T (p.Ser1574Phe) c.3998C>T (p.Ser1333Phe) c.2549C>T (p.Ser850Phe) | dbSNP COSMIC COSMIC |
2 | g.165386946del | CA2580064478 | SCN2A | c.4752del (p.Leu1585PhefsTer23) c.*3071del (n.*3071del) c.*2739del (n.*2739del) c.*5275del (n.*5275del) c.*2694del (n.*2694del) c.4356del (p.Leu1453PhefsTer23) n.8183del c.4722del (p.Leu1575PhefsTer23) c.3999del (p.Leu1334PhefsTer23) c.2550del (p.Leu851PhefsTer23) | ClinVar |
2 | g.165386946T>A | CA429972443 | SCN2A | c.4752T>A (p.Ser1584=) c.*3071T>A (n.*3071T>A) c.*2739T>A (n.*2739T>A) c.*5275T>A (n.*5275T>A) c.*2694T>A (n.*2694T>A) c.4356T>A (p.Ser1452=) n.8183T>A c.4722T>A (p.Ser1574=) c.3999T>A (p.Ser1333=) c.2550T>A (p.Ser850=) | |
2 | g.165386946T>C | CA429972444 | SCN2A | c.4752T>C (p.Ser1584=) c.*3071T>C (n.*3071T>C) c.*2739T>C (n.*2739T>C) c.*5275T>C (n.*5275T>C) c.*2694T>C (n.*2694T>C) c.4356T>C (p.Ser1452=) n.8183T>C c.4722T>C (p.Ser1574=) c.3999T>C (p.Ser1333=) c.2550T>C (p.Ser850=) | |
2 | g.165386946T>G | CA429972445 | SCN2A | c.4752T>G (p.Ser1584=) c.*3071T>G (n.*3071T>G) c.*2739T>G (n.*2739T>G) c.*5275T>G (n.*5275T>G) c.*2694T>G (n.*2694T>G) c.4356T>G (p.Ser1452=) n.8183T>G c.4722T>G (p.Ser1574=) c.3999T>G (p.Ser1333=) c.2550T>G (p.Ser850=) | |
2 | g.165386947C>A | CA349036730 | SCN2A | c.4753C>A (p.Leu1585Ile) c.*3072C>A (n.*3072C>A) c.*2740C>A (n.*2740C>A) c.*5276C>A (n.*5276C>A) c.*2695C>A (n.*2695C>A) c.4357C>A (p.Leu1453Ile) n.8184C>A c.4723C>A (p.Leu1575Ile) c.4000C>A (p.Leu1334Ile) c.2551C>A (p.Leu851Ile) | |
2 | g.165386947C= | CA1304563813 | SCN2A | c.4753C= (p.Leu1585=) c.*3072C= (n.*3072C=) c.*2740C= (n.*2740C=) c.*5276C= (n.*5276C=) c.*2695C= (n.*2695C=) c.4357C= (p.Leu1453=) n.8184C= c.4723C= (p.Leu1575=) c.4000C= (p.Leu1334=) c.2551C= (p.Leu851=) | |
2 | g.165386947C>G | CA349036732 | SCN2A | c.4753C>G (p.Leu1585Val) c.*3072C>G (n.*3072C>G) c.*2740C>G (n.*2740C>G) c.*5276C>G (n.*5276C>G) c.*2695C>G (n.*2695C>G) c.4357C>G (p.Leu1453Val) n.8184C>G c.4723C>G (p.Leu1575Val) c.4000C>G (p.Leu1334Val) c.2551C>G (p.Leu851Val) | |
2 | g.165386947C>T | CA349036733 | SCN2A | c.4753C>T (p.Leu1585Phe) c.*3072C>T (n.*3072C>T) c.*2740C>T (n.*2740C>T) c.*5276C>T (n.*5276C>T) c.*2695C>T (n.*2695C>T) c.4357C>T (p.Leu1453Phe) n.8184C>T c.4723C>T (p.Leu1575Phe) c.4000C>T (p.Leu1334Phe) c.2551C>T (p.Leu851Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386948T>A | CA349036735 | SCN2A | c.4754T>A (p.Leu1585His) c.*3073T>A (n.*3073T>A) c.*2741T>A (n.*2741T>A) c.*5277T>A (n.*5277T>A) c.*2696T>A (n.*2696T>A) c.4358T>A (p.Leu1453His) n.8185T>A c.4724T>A (p.Leu1575His) c.4001T>A (p.Leu1334His) c.2552T>A (p.Leu851His) | |
2 | g.165386948T>C | CA349036736 | SCN2A | c.4754T>C (p.Leu1585Pro) c.*3073T>C (n.*3073T>C) c.*2741T>C (n.*2741T>C) c.*5277T>C (n.*5277T>C) c.*2696T>C (n.*2696T>C) c.4358T>C (p.Leu1453Pro) n.8185T>C c.4724T>C (p.Leu1575Pro) c.4001T>C (p.Leu1334Pro) c.2552T>C (p.Leu851Pro) | |
2 | g.165386948T>G | CA349036738 | SCN2A | c.4754T>G (p.Leu1585Arg) c.*3073T>G (n.*3073T>G) c.*2741T>G (n.*2741T>G) c.*5277T>G (n.*5277T>G) c.*2696T>G (n.*2696T>G) c.4358T>G (p.Leu1453Arg) n.8185T>G c.4724T>G (p.Leu1575Arg) c.4001T>G (p.Leu1334Arg) c.2552T>G (p.Leu851Arg) | |
2 | g.165386949T>A | CA429972448 | SCN2A | c.4755T>A (p.Leu1585=) c.*3074T>A (n.*3074T>A) c.*2742T>A (n.*2742T>A) c.*5278T>A (n.*5278T>A) c.*2697T>A (n.*2697T>A) c.4359T>A (p.Leu1453=) n.8186T>A c.4725T>A (p.Leu1575=) c.4002T>A (p.Leu1334=) c.2553T>A (p.Leu851=) | |
2 | g.165386949T>C | CA429972449 | SCN2A | c.4755T>C (p.Leu1585=) c.*3074T>C (n.*3074T>C) c.*2742T>C (n.*2742T>C) c.*5278T>C (n.*5278T>C) c.*2697T>C (n.*2697T>C) c.4359T>C (p.Leu1453=) n.8186T>C c.4725T>C (p.Leu1575=) c.4002T>C (p.Leu1334=) c.2553T>C (p.Leu851=) | gnomAD v4 |
2 | g.165386949T>G | CA429972450 | SCN2A | c.4755T>G (p.Leu1585=) c.*3074T>G (n.*3074T>G) c.*2742T>G (n.*2742T>G) c.*5278T>G (n.*5278T>G) c.*2697T>G (n.*2697T>G) c.4359T>G (p.Leu1453=) n.8186T>G c.4725T>G (p.Leu1575=) c.4002T>G (p.Leu1334=) c.2553T>G (p.Leu851=) | gnomAD v4 |
2 | g.165386950C>A | CA349036741 | SCN2A | c.4756C>A (p.Arg1586Ser) c.*3075C>A (n.*3075C>A) c.*2743C>A (n.*2743C>A) c.*5279C>A (n.*5279C>A) c.*2698C>A (n.*2698C>A) c.4360C>A (p.Arg1454Ser) n.8187C>A c.4726C>A (p.Arg1576Ser) c.4003C>A (p.Arg1335Ser) c.2554C>A (p.Arg852Ser) | |
2 | g.165386950C>G | CA349036742 | SCN2A | c.4756C>G (p.Arg1586Gly) c.*3075C>G (n.*3075C>G) c.*2743C>G (n.*2743C>G) c.*5279C>G (n.*5279C>G) c.*2698C>G (n.*2698C>G) c.4360C>G (p.Arg1454Gly) n.8187C>G c.4726C>G (p.Arg1576Gly) c.4003C>G (p.Arg1335Gly) c.2554C>G (p.Arg852Gly) | |
2 | g.165386950C>T | CA349036739 | SCN2A | c.4756C>T (p.Arg1586Cys) c.*3075C>T (n.*3075C>T) c.*2743C>T (n.*2743C>T) c.*5279C>T (n.*5279C>T) c.*2698C>T (n.*2698C>T) c.4360C>T (p.Arg1454Cys) n.8187C>T c.4726C>T (p.Arg1576Cys) c.4003C>T (p.Arg1335Cys) c.2554C>T (p.Arg852Cys) | gnomAD v4 COSMIC COSMIC |
2 | g.165386951G>A | CA349036743 | SCN2A | c.4757G>A (p.Arg1586His) c.*3076G>A (n.*3076G>A) c.*2744G>A (n.*2744G>A) c.*5280G>A (n.*5280G>A) c.*2699G>A (n.*2699G>A) c.4361G>A (p.Arg1454His) n.8188G>A c.4727G>A (p.Arg1576His) c.4004G>A (p.Arg1335His) c.2555G>A (p.Arg852His) | ClinVar dbSNP gnomAD v4 |
2 | g.165386951G>C | CA349036744 | SCN2A | c.4757G>C (p.Arg1586Pro) c.*3076G>C (n.*3076G>C) c.*2744G>C (n.*2744G>C) c.*5280G>C (n.*5280G>C) c.*2699G>C (n.*2699G>C) c.4361G>C (p.Arg1454Pro) n.8188G>C c.4727G>C (p.Arg1576Pro) c.4004G>C (p.Arg1335Pro) c.2555G>C (p.Arg852Pro) | |
2 | g.165386951G= | CA1304563814 | SCN2A | c.4757G= (p.Arg1586=) c.*3076G= (n.*3076G=) c.*2744G= (n.*2744G=) c.*5280G= (n.*5280G=) c.*2699G= (n.*2699G=) c.4361G= (p.Arg1454=) n.8188G= c.4727G= (p.Arg1576=) c.4004G= (p.Arg1335=) c.2555G= (p.Arg852=) | |
2 | g.165386951G>T | CA349036745 | SCN2A | c.4757G>T (p.Arg1586Leu) c.*3076G>T (n.*3076G>T) c.*2744G>T (n.*2744G>T) c.*5280G>T (n.*5280G>T) c.*2699G>T (n.*2699G>T) c.4361G>T (p.Arg1454Leu) n.8188G>T c.4727G>T (p.Arg1576Leu) c.4004G>T (p.Arg1335Leu) c.2555G>T (p.Arg852Leu) | |
2 | g.165386952T>A | CA429972454 | SCN2A | c.4758T>A (p.Arg1586=) c.*3077T>A (n.*3077T>A) c.*2745T>A (n.*2745T>A) c.*5281T>A (n.*5281T>A) c.*2700T>A (n.*2700T>A) c.4362T>A (p.Arg1454=) n.8189T>A c.4728T>A (p.Arg1576=) c.4005T>A (p.Arg1335=) c.2556T>A (p.Arg852=) | |
2 | g.165386952T>C | CA429972455 | SCN2A | c.4758T>C (p.Arg1586=) c.*3077T>C (n.*3077T>C) c.*2745T>C (n.*2745T>C) c.*5281T>C (n.*5281T>C) c.*2700T>C (n.*2700T>C) c.4362T>C (p.Arg1454=) n.8189T>C c.4728T>C (p.Arg1576=) c.4005T>C (p.Arg1335=) c.2556T>C (p.Arg852=) | gnomAD v4 |
2 | g.165386952T>G | CA429972456 | SCN2A | c.4758T>G (p.Arg1586=) c.*3077T>G (n.*3077T>G) c.*2745T>G (n.*2745T>G) c.*5281T>G (n.*5281T>G) c.*2700T>G (n.*2700T>G) c.4362T>G (p.Arg1454=) n.8189T>G c.4728T>G (p.Arg1576=) c.4005T>G (p.Arg1335=) c.2556T>G (p.Arg852=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386952T= | CA1304563815 | SCN2A | c.4758T= (p.Arg1586=) c.*3077T= (n.*3077T=) c.*2745T= (n.*2745T=) c.*5281T= (n.*5281T=) c.*2700T= (n.*2700T=) c.4362T= (p.Arg1454=) n.8189T= c.4728T= (p.Arg1576=) c.4005T= (p.Arg1335=) c.2556T= (p.Arg852=) | |
2 | g.165386953T>A | CA349036747 | SCN2A | c.4759T>A (p.Tyr1587Asn) c.*3078T>A (n.*3078T>A) c.*2746T>A (n.*2746T>A) c.*5282T>A (n.*5282T>A) c.*2701T>A (n.*2701T>A) c.4363T>A (p.Tyr1455Asn) n.8190T>A c.4729T>A (p.Tyr1577Asn) c.4006T>A (p.Tyr1336Asn) c.2557T>A (p.Tyr853Asn) | |
2 | g.165386953T>C | CA349036749 | SCN2A | c.4759T>C (p.Tyr1587His) c.*3078T>C (n.*3078T>C) c.*2746T>C (n.*2746T>C) c.*5282T>C (n.*5282T>C) c.*2701T>C (n.*2701T>C) c.4363T>C (p.Tyr1455His) n.8190T>C c.4729T>C (p.Tyr1577His) c.4006T>C (p.Tyr1336His) c.2557T>C (p.Tyr853His) | |
2 | g.165386953T>G | CA349036750 | SCN2A | c.4759T>G (p.Tyr1587Asp) c.*3078T>G (n.*3078T>G) c.*2746T>G (n.*2746T>G) c.*5282T>G (n.*5282T>G) c.*2701T>G (n.*2701T>G) c.4363T>G (p.Tyr1455Asp) n.8190T>G c.4729T>G (p.Tyr1577Asp) c.4006T>G (p.Tyr1336Asp) c.2557T>G (p.Tyr853Asp) | |
2 | g.165386954A>C | CA349036752 | SCN2A | c.4760A>C (p.Tyr1587Ser) c.*3079A>C (n.*3079A>C) c.*2747A>C (n.*2747A>C) c.*5283A>C (n.*5283A>C) c.*2702A>C (n.*2702A>C) c.4364A>C (p.Tyr1455Ser) n.8191A>C c.4730A>C (p.Tyr1577Ser) c.4007A>C (p.Tyr1336Ser) c.2558A>C (p.Tyr853Ser) | |
2 | g.165386954A>G | CA349036753 | SCN2A | c.4760A>G (p.Tyr1587Cys) c.*3079A>G (n.*3079A>G) c.*2747A>G (n.*2747A>G) c.*5283A>G (n.*5283A>G) c.*2702A>G (n.*2702A>G) c.4364A>G (p.Tyr1455Cys) n.8191A>G c.4730A>G (p.Tyr1577Cys) c.4007A>G (p.Tyr1336Cys) c.2558A>G (p.Tyr853Cys) | |
2 | g.165386954A>T | CA349036755 | SCN2A | c.4760A>T (p.Tyr1587Phe) c.*3079A>T (n.*3079A>T) c.*2747A>T (n.*2747A>T) c.*5283A>T (n.*5283A>T) c.*2702A>T (n.*2702A>T) c.4364A>T (p.Tyr1455Phe) n.8191A>T c.4730A>T (p.Tyr1577Phe) c.4007A>T (p.Tyr1336Phe) c.2558A>T (p.Tyr853Phe) | |
2 | g.165386955C>A | CA349036756 | SCN2A | c.4761C>A (p.Tyr1587Ter) c.*3080C>A (n.*3080C>A) c.*2748C>A (n.*2748C>A) c.*5284C>A (n.*5284C>A) c.*2703C>A (n.*2703C>A) c.4365C>A (p.Tyr1455Ter) n.8192C>A c.4731C>A (p.Tyr1577Ter) c.4008C>A (p.Tyr1336Ter) c.2559C>A (p.Tyr853Ter) | |
2 | g.165386955C>G | CA349036758 | SCN2A | c.4761C>G (p.Tyr1587Ter) c.*3080C>G (n.*3080C>G) c.*2748C>G (n.*2748C>G) c.*5284C>G (n.*5284C>G) c.*2703C>G (n.*2703C>G) c.4365C>G (p.Tyr1455Ter) n.8192C>G c.4731C>G (p.Tyr1577Ter) c.4008C>G (p.Tyr1336Ter) c.2559C>G (p.Tyr853Ter) | |
2 | g.165386955C>T | CA429972459 | SCN2A | c.4761C>T (p.Tyr1587=) c.*3080C>T (n.*3080C>T) c.*2748C>T (n.*2748C>T) c.*5284C>T (n.*5284C>T) c.*2703C>T (n.*2703C>T) c.4365C>T (p.Tyr1455=) n.8192C>T c.4731C>T (p.Tyr1577=) c.4008C>T (p.Tyr1336=) c.2559C>T (p.Tyr853=) | gnomAD v4 |
2 | g.165386956T>A | CA349036760 | SCN2A | c.4762T>A (p.Tyr1588Asn) c.*3081T>A (n.*3081T>A) c.*2749T>A (n.*2749T>A) c.*5285T>A (n.*5285T>A) c.*2704T>A (n.*2704T>A) c.4366T>A (p.Tyr1456Asn) n.8193T>A c.4732T>A (p.Tyr1578Asn) c.4009T>A (p.Tyr1337Asn) c.2560T>A (p.Tyr854Asn) | |
2 | g.165386956T>C | CA349036761 | SCN2A | c.4762T>C (p.Tyr1588His) c.*3081T>C (n.*3081T>C) c.*2749T>C (n.*2749T>C) c.*5285T>C (n.*5285T>C) c.*2704T>C (n.*2704T>C) c.4366T>C (p.Tyr1456His) n.8193T>C c.4732T>C (p.Tyr1578His) c.4009T>C (p.Tyr1337His) c.2560T>C (p.Tyr854His) | dbSNP |
2 | g.165386956T>G | CA349036763 | SCN2A | c.4762T>G (p.Tyr1588Asp) c.*3081T>G (n.*3081T>G) c.*2749T>G (n.*2749T>G) c.*5285T>G (n.*5285T>G) c.*2704T>G (n.*2704T>G) c.4366T>G (p.Tyr1456Asp) n.8193T>G c.4732T>G (p.Tyr1578Asp) c.4009T>G (p.Tyr1337Asp) c.2560T>G (p.Tyr854Asp) | |
2 | g.165386956T= | CA1304563816 | SCN2A | c.4762T= (p.Tyr1588=) c.*3081T= (n.*3081T=) c.*2749T= (n.*2749T=) c.*5285T= (n.*5285T=) c.*2704T= (n.*2704T=) c.4366T= (p.Tyr1456=) n.8193T= c.4732T= (p.Tyr1578=) c.4009T= (p.Tyr1337=) c.2560T= (p.Tyr854=) | |
2 | g.165386957A>C | CA349036767 | SCN2A | c.4763A>C (p.Tyr1588Ser) c.*3082A>C (n.*3082A>C) c.*2750A>C (n.*2750A>C) c.*5286A>C (n.*5286A>C) c.*2705A>C (n.*2705A>C) c.4367A>C (p.Tyr1456Ser) n.8194A>C c.4733A>C (p.Tyr1578Ser) c.4010A>C (p.Tyr1337Ser) c.2561A>C (p.Tyr854Ser) | |
2 | g.165386957A>G | CA349036766 | SCN2A | c.4763A>G (p.Tyr1588Cys) c.*3082A>G (n.*3082A>G) c.*2750A>G (n.*2750A>G) c.*5286A>G (n.*5286A>G) c.*2705A>G (n.*2705A>G) c.4367A>G (p.Tyr1456Cys) n.8194A>G c.4733A>G (p.Tyr1578Cys) c.4010A>G (p.Tyr1337Cys) c.2561A>G (p.Tyr854Cys) | |
2 | g.165386957A>T | CA349036764 | SCN2A | c.4763A>T (p.Tyr1588Phe) c.*3082A>T (n.*3082A>T) c.*2750A>T (n.*2750A>T) c.*5286A>T (n.*5286A>T) c.*2705A>T (n.*2705A>T) c.4367A>T (p.Tyr1456Phe) n.8194A>T c.4733A>T (p.Tyr1578Phe) c.4010A>T (p.Tyr1337Phe) c.2561A>T (p.Tyr854Phe) | |
2 | g.165386958C>A | CA349036769 | SCN2A | c.4764C>A (p.Tyr1588Ter) c.*3083C>A (n.*3083C>A) c.*2751C>A (n.*2751C>A) c.*5287C>A (n.*5287C>A) c.*2706C>A (n.*2706C>A) c.4368C>A (p.Tyr1456Ter) n.8195C>A c.4734C>A (p.Tyr1578Ter) c.4011C>A (p.Tyr1337Ter) c.2562C>A (p.Tyr854Ter) | |
2 | g.165386958C>G | CA349036771 | SCN2A | c.4764C>G (p.Tyr1588Ter) c.*3083C>G (n.*3083C>G) c.*2751C>G (n.*2751C>G) c.*5287C>G (n.*5287C>G) c.*2706C>G (n.*2706C>G) c.4368C>G (p.Tyr1456Ter) n.8195C>G c.4734C>G (p.Tyr1578Ter) c.4011C>G (p.Tyr1337Ter) c.2562C>G (p.Tyr854Ter) | |
2 | g.165386958C>T | CA429972463 | SCN2A | c.4764C>T (p.Tyr1588=) c.*3083C>T (n.*3083C>T) c.*2751C>T (n.*2751C>T) c.*5287C>T (n.*5287C>T) c.*2706C>T (n.*2706C>T) c.4368C>T (p.Tyr1456=) n.8195C>T c.4734C>T (p.Tyr1578=) c.4011C>T (p.Tyr1337=) c.2562C>T (p.Tyr854=) | |
2 | g.165386959T>A | CA349036772 | SCN2A | c.4765T>A (p.Tyr1589Asn) c.*3084T>A (n.*3084T>A) c.*2752T>A (n.*2752T>A) c.*5288T>A (n.*5288T>A) c.*2707T>A (n.*2707T>A) c.4369T>A (p.Tyr1457Asn) n.8196T>A c.4735T>A (p.Tyr1579Asn) c.4012T>A (p.Tyr1338Asn) c.2563T>A (p.Tyr855Asn) | |
2 | g.165386959T>C | CA349036773 | SCN2A | c.4765T>C (p.Tyr1589His) c.*3084T>C (n.*3084T>C) c.*2752T>C (n.*2752T>C) c.*5288T>C (n.*5288T>C) c.*2707T>C (n.*2707T>C) c.4369T>C (p.Tyr1457His) n.8196T>C c.4735T>C (p.Tyr1579His) c.4012T>C (p.Tyr1338His) c.2563T>C (p.Tyr855His) | |
2 | g.165386959T>G | CA349036775 | SCN2A | c.4765T>G (p.Tyr1589Asp) c.*3084T>G (n.*3084T>G) c.*2752T>G (n.*2752T>G) c.*5288T>G (n.*5288T>G) c.*2707T>G (n.*2707T>G) c.4369T>G (p.Tyr1457Asp) n.8196T>G c.4735T>G (p.Tyr1579Asp) c.4012T>G (p.Tyr1338Asp) c.2563T>G (p.Tyr855Asp) | |
2 | g.165386960A= | CA1304563817 | SCN2A | c.4766A= (p.Tyr1589=) c.*3085A= (n.*3085A=) c.*2753A= (n.*2753A=) c.*5289A= (n.*5289A=) c.*2708A= (n.*2708A=) c.4370A= (p.Tyr1457=) n.8197A= c.4736A= (p.Tyr1579=) c.4013A= (p.Tyr1338=) c.2564A= (p.Tyr855=) | |
2 | g.165386960A>C | CA349036777 | SCN2A | c.4766A>C (p.Tyr1589Ser) c.*3085A>C (n.*3085A>C) c.*2753A>C (n.*2753A>C) c.*5289A>C (n.*5289A>C) c.*2708A>C (n.*2708A>C) c.4370A>C (p.Tyr1457Ser) n.8197A>C c.4736A>C (p.Tyr1579Ser) c.4013A>C (p.Tyr1338Ser) c.2564A>C (p.Tyr855Ser) | |
2 | g.165386960A>G | CA349036779 | SCN2A | c.4766A>G (p.Tyr1589Cys) c.*3085A>G (n.*3085A>G) c.*2753A>G (n.*2753A>G) c.*5289A>G (n.*5289A>G) c.*2708A>G (n.*2708A>G) c.4370A>G (p.Tyr1457Cys) n.8197A>G c.4736A>G (p.Tyr1579Cys) c.4013A>G (p.Tyr1338Cys) c.2564A>G (p.Tyr855Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.165386960A>T | CA349036780 | SCN2A | c.4766A>T (p.Tyr1589Phe) c.*3085A>T (n.*3085A>T) c.*2753A>T (n.*2753A>T) c.*5289A>T (n.*5289A>T) c.*2708A>T (n.*2708A>T) c.4370A>T (p.Tyr1457Phe) n.8197A>T c.4736A>T (p.Tyr1579Phe) c.4013A>T (p.Tyr1338Phe) c.2564A>T (p.Tyr855Phe) | |
2 | g.165386961T>A | CA349036782 | SCN2A | c.4767T>A (p.Tyr1589Ter) c.*3086T>A (n.*3086T>A) c.*2754T>A (n.*2754T>A) c.*5290T>A (n.*5290T>A) c.*2709T>A (n.*2709T>A) c.4371T>A (p.Tyr1457Ter) n.8198T>A c.4737T>A (p.Tyr1579Ter) c.4014T>A (p.Tyr1338Ter) c.2565T>A (p.Tyr855Ter) | |
2 | g.165386961T>C | CA429972469 | SCN2A | c.4767T>C (p.Tyr1589=) c.*3086T>C (n.*3086T>C) c.*2754T>C (n.*2754T>C) c.*5290T>C (n.*5290T>C) c.*2709T>C (n.*2709T>C) c.4371T>C (p.Tyr1457=) n.8198T>C c.4737T>C (p.Tyr1579=) c.4014T>C (p.Tyr1338=) c.2565T>C (p.Tyr855=) | |
2 | g.165386961T>G | CA349036783 | SCN2A | c.4767T>G (p.Tyr1589Ter) c.*3086T>G (n.*3086T>G) c.*2754T>G (n.*2754T>G) c.*5290T>G (n.*5290T>G) c.*2709T>G (n.*2709T>G) c.4371T>G (p.Tyr1457Ter) n.8198T>G c.4737T>G (p.Tyr1579Ter) c.4014T>G (p.Tyr1338Ter) c.2565T>G (p.Tyr855Ter) | |
2 | g.165386962T>A | CA349036785 | SCN2A | c.4768T>A (p.Phe1590Ile) c.*3087T>A (n.*3087T>A) c.*2755T>A (n.*2755T>A) c.*5291T>A (n.*5291T>A) c.*2710T>A (n.*2710T>A) c.4372T>A (p.Phe1458Ile) n.8199T>A c.4738T>A (p.Phe1580Ile) c.4015T>A (p.Phe1339Ile) c.2566T>A (p.Phe856Ile) | |
2 | g.165386962T>C | CA349036787 | SCN2A | c.4768T>C (p.Phe1590Leu) c.*3087T>C (n.*3087T>C) c.*2755T>C (n.*2755T>C) c.*5291T>C (n.*5291T>C) c.*2710T>C (n.*2710T>C) c.4372T>C (p.Phe1458Leu) n.8199T>C c.4738T>C (p.Phe1580Leu) c.4015T>C (p.Phe1339Leu) c.2566T>C (p.Phe856Leu) | COSMIC COSMIC |
2 | g.165386962T>G | CA349036788 | SCN2A | c.4768T>G (p.Phe1590Val) c.*3087T>G (n.*3087T>G) c.*2755T>G (n.*2755T>G) c.*5291T>G (n.*5291T>G) c.*2710T>G (n.*2710T>G) c.4372T>G (p.Phe1458Val) n.8199T>G c.4738T>G (p.Phe1580Val) c.4015T>G (p.Phe1339Val) c.2566T>G (p.Phe856Val) | |
2 | g.165386963T>A | CA349036790 | SCN2A | c.4769T>A (p.Phe1590Tyr) c.*3088T>A (n.*3088T>A) c.*2756T>A (n.*2756T>A) c.*5292T>A (n.*5292T>A) c.*2711T>A (n.*2711T>A) c.4373T>A (p.Phe1458Tyr) n.8200T>A c.4739T>A (p.Phe1580Tyr) c.4016T>A (p.Phe1339Tyr) c.2567T>A (p.Phe856Tyr) | |
2 | g.165386963T>C | CA1940317 | SCN2A | c.4769T>C (p.Phe1590Ser) c.*3088T>C (n.*3088T>C) c.*2756T>C (n.*2756T>C) c.*5292T>C (n.*5292T>C) c.*2711T>C (n.*2711T>C) c.4373T>C (p.Phe1458Ser) n.8200T>C c.4739T>C (p.Phe1580Ser) c.4016T>C (p.Phe1339Ser) c.2567T>C (p.Phe856Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165386963T>G | CA349036791 | SCN2A | c.4769T>G (p.Phe1590Cys) c.*3088T>G (n.*3088T>G) c.*2756T>G (n.*2756T>G) c.*5292T>G (n.*5292T>G) c.*2711T>G (n.*2711T>G) c.4373T>G (p.Phe1458Cys) n.8200T>G c.4739T>G (p.Phe1580Cys) c.4016T>G (p.Phe1339Cys) c.2567T>G (p.Phe856Cys) | |
2 | g.165386963T= | CA1304563818 | SCN2A | c.4769T= (p.Phe1590=) c.*3088T= (n.*3088T=) c.*2756T= (n.*2756T=) c.*5292T= (n.*5292T=) c.*2711T= (n.*2711T=) c.4373T= (p.Phe1458=) n.8200T= c.4739T= (p.Phe1580=) c.4016T= (p.Phe1339=) c.2567T= (p.Phe856=) | |
2 | g.165386964C>A | CA349036793 | SCN2A | c.4770C>A (p.Phe1590Leu) c.*3089C>A (n.*3089C>A) c.*2757C>A (n.*2757C>A) c.*5293C>A (n.*5293C>A) c.*2712C>A (n.*2712C>A) c.4374C>A (p.Phe1458Leu) n.8201C>A c.4740C>A (p.Phe1580Leu) c.4017C>A (p.Phe1339Leu) c.2568C>A (p.Phe856Leu) | |
2 | g.165386964C>G | CA349036795 | SCN2A | c.4770C>G (p.Phe1590Leu) c.*3089C>G (n.*3089C>G) c.*2757C>G (n.*2757C>G) c.*5293C>G (n.*5293C>G) c.*2712C>G (n.*2712C>G) c.4374C>G (p.Phe1458Leu) n.8201C>G c.4740C>G (p.Phe1580Leu) c.4017C>G (p.Phe1339Leu) c.2568C>G (p.Phe856Leu) | |
2 | g.165386964C>T | CA429972474 | SCN2A | c.4770C>T (p.Phe1590=) c.*3089C>T (n.*3089C>T) c.*2757C>T (n.*2757C>T) c.*5293C>T (n.*5293C>T) c.*2712C>T (n.*2712C>T) c.4374C>T (p.Phe1458=) n.8201C>T c.4740C>T (p.Phe1580=) c.4017C>T (p.Phe1339=) c.2568C>T (p.Phe856=) | |
2 | g.165386965A>C | CA349036796 | SCN2A | c.4771A>C (p.Thr1591Pro) c.*3090A>C (n.*3090A>C) c.*2758A>C (n.*2758A>C) c.*5294A>C (n.*5294A>C) c.*2713A>C (n.*2713A>C) c.4375A>C (p.Thr1459Pro) n.8202A>C c.4741A>C (p.Thr1581Pro) c.4018A>C (p.Thr1340Pro) c.2569A>C (p.Thr857Pro) | |
2 | g.165386965A>G | CA349036799 | SCN2A | c.4771A>G (p.Thr1591Ala) c.*3090A>G (n.*3090A>G) c.*2758A>G (n.*2758A>G) c.*5294A>G (n.*5294A>G) c.*2713A>G (n.*2713A>G) c.4375A>G (p.Thr1459Ala) n.8202A>G c.4741A>G (p.Thr1581Ala) c.4018A>G (p.Thr1340Ala) c.2569A>G (p.Thr857Ala) | |
2 | g.165386965A>T | CA349036798 | SCN2A | c.4771A>T (p.Thr1591Ser) c.*3090A>T (n.*3090A>T) c.*2758A>T (n.*2758A>T) c.*5294A>T (n.*5294A>T) c.*2713A>T (n.*2713A>T) c.4375A>T (p.Thr1459Ser) n.8202A>T c.4741A>T (p.Thr1581Ser) c.4018A>T (p.Thr1340Ser) c.2569A>T (p.Thr857Ser) | |
2 | g.165386966C>A | CA349036803 | SCN2A | c.4772C>A (p.Thr1591Asn) c.*3091C>A (n.*3091C>A) c.*2759C>A (n.*2759C>A) c.*5295C>A (n.*5295C>A) c.*2714C>A (n.*2714C>A) c.4376C>A (p.Thr1459Asn) n.8203C>A c.4742C>A (p.Thr1581Asn) c.4019C>A (p.Thr1340Asn) c.2570C>A (p.Thr857Asn) | |
2 | g.165386966C= | CA1304563819 | SCN2A | c.4772C= (p.Thr1591=) c.*3091C= (n.*3091C=) c.*2759C= (n.*2759C=) c.*5295C= (n.*5295C=) c.*2714C= (n.*2714C=) c.4376C= (p.Thr1459=) n.8203C= c.4742C= (p.Thr1581=) c.4019C= (p.Thr1340=) c.2570C= (p.Thr857=) | |
2 | g.165386966C>G | CA349036805 | SCN2A | c.4772C>G (p.Thr1591Ser) c.*3091C>G (n.*3091C>G) c.*2759C>G (n.*2759C>G) c.*5295C>G (n.*5295C>G) c.*2714C>G (n.*2714C>G) c.4376C>G (p.Thr1459Ser) n.8203C>G c.4742C>G (p.Thr1581Ser) c.4019C>G (p.Thr1340Ser) c.2570C>G (p.Thr857Ser) | dbSNP |
2 | g.165386966C>T | CA349036804 | SCN2A | c.4772C>T (p.Thr1591Ile) c.*3091C>T (n.*3091C>T) c.*2759C>T (n.*2759C>T) c.*5295C>T (n.*5295C>T) c.*2714C>T (n.*2714C>T) c.4376C>T (p.Thr1459Ile) n.8203C>T c.4742C>T (p.Thr1581Ile) c.4019C>T (p.Thr1340Ile) c.2570C>T (p.Thr857Ile) | |
2 | g.165386967T>A | CA429972478 | SCN2A | c.4773T>A (p.Thr1591=) c.*3092T>A (n.*3092T>A) c.*2760T>A (n.*2760T>A) c.*5296T>A (n.*5296T>A) c.*2715T>A (n.*2715T>A) c.4377T>A (p.Thr1459=) n.8204T>A c.4743T>A (p.Thr1581=) c.4020T>A (p.Thr1340=) c.2571T>A (p.Thr857=) | |
2 | g.165386967T>C | CA429972480 | SCN2A | c.4773T>C (p.Thr1591=) c.*3092T>C (n.*3092T>C) c.*2760T>C (n.*2760T>C) c.*5296T>C (n.*5296T>C) c.*2715T>C (n.*2715T>C) c.4377T>C (p.Thr1459=) n.8204T>C c.4743T>C (p.Thr1581=) c.4020T>C (p.Thr1340=) c.2571T>C (p.Thr857=) | |
2 | g.165386967T>G | CA429972479 | SCN2A | c.4773T>G (p.Thr1591=) c.*3092T>G (n.*3092T>G) c.*2760T>G (n.*2760T>G) c.*5296T>G (n.*5296T>G) c.*2715T>G (n.*2715T>G) c.4377T>G (p.Thr1459=) n.8204T>G c.4743T>G (p.Thr1581=) c.4020T>G (p.Thr1340=) c.2571T>G (p.Thr857=) | |
2 | g.165386968A= | CA1304563820 | SCN2A | c.4774A= (p.Ile1592=) c.*3093A= (n.*3093A=) c.*2761A= (n.*2761A=) c.*5297A= (n.*5297A=) c.*2716A= (n.*2716A=) c.4378A= (p.Ile1460=) n.8205A= c.4744A= (p.Ile1582=) c.4021A= (p.Ile1341=) c.2572A= (p.Ile858=) | |
2 | g.165386968A>C | CA349036808 | SCN2A | c.4774A>C (p.Ile1592Leu) c.*3093A>C (n.*3093A>C) c.*2761A>C (n.*2761A>C) c.*5297A>C (n.*5297A>C) c.*2716A>C (n.*2716A>C) c.4378A>C (p.Ile1460Leu) n.8205A>C c.4744A>C (p.Ile1582Leu) c.4021A>C (p.Ile1341Leu) c.2572A>C (p.Ile858Leu) | |
2 | g.165386968A>G | CA349036811 | SCN2A | c.4774A>G (p.Ile1592Val) c.*3093A>G (n.*3093A>G) c.*2761A>G (n.*2761A>G) c.*5297A>G (n.*5297A>G) c.*2716A>G (n.*2716A>G) c.4378A>G (p.Ile1460Val) n.8205A>G c.4744A>G (p.Ile1582Val) c.4021A>G (p.Ile1341Val) c.2572A>G (p.Ile858Val) | dbSNP |
2 | g.165386968A>T | CA349036809 | SCN2A | c.4774A>T (p.Ile1592Phe) c.*3093A>T (n.*3093A>T) c.*2761A>T (n.*2761A>T) c.*5297A>T (n.*5297A>T) c.*2716A>T (n.*2716A>T) c.4378A>T (p.Ile1460Phe) n.8205A>T c.4744A>T (p.Ile1582Phe) c.4021A>T (p.Ile1341Phe) c.2572A>T (p.Ile858Phe) | |
2 | g.165386969T>A | CA349036812 | SCN2A | c.4775T>A (p.Ile1592Asn) c.*3094T>A (n.*3094T>A) c.*2762T>A (n.*2762T>A) c.*5298T>A (n.*5298T>A) c.*2717T>A (n.*2717T>A) c.4379T>A (p.Ile1460Asn) n.8206T>A c.4745T>A (p.Ile1582Asn) c.4022T>A (p.Ile1341Asn) c.2573T>A (p.Ile858Asn) | |
2 | g.165386969T>C | CA1940318 | SCN2A | c.4775T>C (p.Ile1592Thr) c.*3094T>C (n.*3094T>C) c.*2762T>C (n.*2762T>C) c.*5298T>C (n.*5298T>C) c.*2717T>C (n.*2717T>C) c.4379T>C (p.Ile1460Thr) n.8206T>C c.4745T>C (p.Ile1582Thr) c.4022T>C (p.Ile1341Thr) c.2573T>C (p.Ile858Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.165386969T>G | CA349036815 | SCN2A | c.4775T>G (p.Ile1592Ser) c.*3094T>G (n.*3094T>G) c.*2762T>G (n.*2762T>G) c.*5298T>G (n.*5298T>G) c.*2717T>G (n.*2717T>G) c.4379T>G (p.Ile1460Ser) n.8206T>G c.4745T>G (p.Ile1582Ser) c.4022T>G (p.Ile1341Ser) c.2573T>G (p.Ile858Ser) | |
2 | g.165386969T= | CA1304563821 | SCN2A | c.4775T= (p.Ile1592=) c.*3094T= (n.*3094T=) c.*2762T= (n.*2762T=) c.*5298T= (n.*5298T=) c.*2717T= (n.*2717T=) c.4379T= (p.Ile1460=) n.8206T= c.4745T= (p.Ile1582=) c.4022T= (p.Ile1341=) c.2573T= (p.Ile858=) | |
2 | g.165386970T>A | CA429972483 | SCN2A | c.4776T>A (p.Ile1592=) c.*3095T>A (n.*3095T>A) c.*2763T>A (n.*2763T>A) c.*5299T>A (n.*5299T>A) c.*2718T>A (n.*2718T>A) c.4380T>A (p.Ile1460=) n.8207T>A c.4746T>A (p.Ile1582=) c.4023T>A (p.Ile1341=) c.2574T>A (p.Ile858=) | |
2 | g.165386970T>C | CA429972484 | SCN2A | c.4776T>C (p.Ile1592=) c.*3095T>C (n.*3095T>C) c.*2763T>C (n.*2763T>C) c.*5299T>C (n.*5299T>C) c.*2718T>C (n.*2718T>C) c.4380T>C (p.Ile1460=) n.8207T>C c.4746T>C (p.Ile1582=) c.4023T>C (p.Ile1341=) c.2574T>C (p.Ile858=) | |
2 | g.165386970T>G | CA349036816 | SCN2A | c.4776T>G (p.Ile1592Met) c.*3095T>G (n.*3095T>G) c.*2763T>G (n.*2763T>G) c.*5299T>G (n.*5299T>G) c.*2718T>G (n.*2718T>G) c.4380T>G (p.Ile1460Met) n.8207T>G c.4746T>G (p.Ile1582Met) c.4023T>G (p.Ile1341Met) c.2574T>G (p.Ile858Met) | dbSNP |
2 | g.165386971G>A | CA501168 | SCN2A | c.4777G>A (p.Gly1593Arg) c.*3096G>A (n.*3096G>A) c.*2764G>A (n.*2764G>A) c.*5300G>A (n.*5300G>A) c.*2719G>A (n.*2719G>A) c.4381G>A (p.Gly1461Arg) n.8208G>A c.4747G>A (p.Gly1583Arg) c.4024G>A (p.Gly1342Arg) c.2575G>A (p.Gly859Arg) | ClinVar dbSNP |
2 | g.165386971G>C | CA349036819 | SCN2A | c.4777G>C (p.Gly1593Arg) c.*3096G>C (n.*3096G>C) c.*2764G>C (n.*2764G>C) c.*5300G>C (n.*5300G>C) c.*2719G>C (n.*2719G>C) c.4381G>C (p.Gly1461Arg) n.8208G>C c.4747G>C (p.Gly1583Arg) c.4024G>C (p.Gly1342Arg) c.2575G>C (p.Gly859Arg) | |
2 | g.165386971G= | CA1304563822 | SCN2A | c.4777G= (p.Gly1593=) c.*3096G= (n.*3096G=) c.*2764G= (n.*2764G=) c.*5300G= (n.*5300G=) c.*2719G= (n.*2719G=) c.4381G= (p.Gly1461=) n.8208G= c.4747G= (p.Gly1583=) c.4024G= (p.Gly1342=) c.2575G= (p.Gly859=) | |
2 | g.165386971G>T | CA349036820 | SCN2A | c.4777G>T (p.Gly1593Ter) c.*3096G>T (n.*3096G>T) c.*2764G>T (n.*2764G>T) c.*5300G>T (n.*5300G>T) c.*2719G>T (n.*2719G>T) c.4381G>T (p.Gly1461Ter) n.8208G>T c.4747G>T (p.Gly1583Ter) c.4024G>T (p.Gly1342Ter) c.2575G>T (p.Gly859Ter) | dbSNP |
2 | g.165386972G>A | CA349036822 | SCN2A | c.4778G>A (p.Gly1593Glu) c.*3097G>A (n.*3097G>A) c.*2765G>A (n.*2765G>A) c.*5301G>A (n.*5301G>A) c.*2720G>A (n.*2720G>A) c.4382G>A (p.Gly1461Glu) n.8209G>A c.4748G>A (p.Gly1583Glu) c.4025G>A (p.Gly1342Glu) c.2576G>A (p.Gly859Glu) | gnomAD v4 |
2 | g.165386972G>C | CA349036823 | SCN2A | c.4778G>C (p.Gly1593Ala) c.*3097G>C (n.*3097G>C) c.*2765G>C (n.*2765G>C) c.*5301G>C (n.*5301G>C) c.*2720G>C (n.*2720G>C) c.4382G>C (p.Gly1461Ala) n.8209G>C c.4748G>C (p.Gly1583Ala) c.4025G>C (p.Gly1342Ala) c.2576G>C (p.Gly859Ala) | |
2 | g.165386972G>T | CA349036825 | SCN2A | c.4778G>T (p.Gly1593Val) c.*3097G>T (n.*3097G>T) c.*2765G>T (n.*2765G>T) c.*5301G>T (n.*5301G>T) c.*2720G>T (n.*2720G>T) c.4382G>T (p.Gly1461Val) n.8209G>T c.4748G>T (p.Gly1583Val) c.4025G>T (p.Gly1342Val) c.2576G>T (p.Gly859Val) | ClinVar dbSNP |
2 | g.165386973A>C | CA429972487 | SCN2A | c.4779A>C (p.Gly1593=) c.*3098A>C (n.*3098A>C) c.*2766A>C (n.*2766A>C) c.*5302A>C (n.*5302A>C) c.*2721A>C (n.*2721A>C) c.4383A>C (p.Gly1461=) n.8210A>C c.4749A>C (p.Gly1583=) c.4026A>C (p.Gly1342=) c.2577A>C (p.Gly859=) | |
2 | g.165386973A>G | CA429972489 | SCN2A | c.4779A>G (p.Gly1593=) c.*3098A>G (n.*3098A>G) c.*2766A>G (n.*2766A>G) c.*5302A>G (n.*5302A>G) c.*2721A>G (n.*2721A>G) c.4383A>G (p.Gly1461=) n.8210A>G c.4749A>G (p.Gly1583=) c.4026A>G (p.Gly1342=) c.2577A>G (p.Gly859=) | |
2 | g.165386973A>T | CA429972488 | SCN2A | c.4779A>T (p.Gly1593=) c.*3098A>T (n.*3098A>T) c.*2766A>T (n.*2766A>T) c.*5302A>T (n.*5302A>T) c.*2721A>T (n.*2721A>T) c.4383A>T (p.Gly1461=) n.8210A>T c.4749A>T (p.Gly1583=) c.4026A>T (p.Gly1342=) c.2577A>T (p.Gly859=) | ClinVar |
2 | g.165386974T>A | CA349036828 | SCN2A | c.4780T>A (p.Trp1594Arg) c.*3099T>A (n.*3099T>A) c.*2767T>A (n.*2767T>A) c.*5303T>A (n.*5303T>A) c.*2722T>A (n.*2722T>A) c.4384T>A (p.Trp1462Arg) n.8211T>A c.4750T>A (p.Trp1584Arg) c.4027T>A (p.Trp1343Arg) c.2578T>A (p.Trp860Arg) | |
2 | g.165386974T>C | CA16042354 | SCN2A | c.4780T>C (p.Trp1594Arg) c.*3099T>C (n.*3099T>C) c.*2767T>C (n.*2767T>C) c.*5303T>C (n.*5303T>C) c.*2722T>C (n.*2722T>C) c.4384T>C (p.Trp1462Arg) n.8211T>C c.4750T>C (p.Trp1584Arg) c.4027T>C (p.Trp1343Arg) c.2578T>C (p.Trp860Arg) | ClinVar dbSNP |
2 | g.165386974T>G | CA349036826 | SCN2A | c.4780T>G (p.Trp1594Gly) c.*3099T>G (n.*3099T>G) c.*2767T>G (n.*2767T>G) c.*5303T>G (n.*5303T>G) c.*2722T>G (n.*2722T>G) c.4384T>G (p.Trp1462Gly) n.8211T>G c.4750T>G (p.Trp1584Gly) c.4027T>G (p.Trp1343Gly) c.2578T>G (p.Trp860Gly) | |
2 | g.165386974T= | CA1304563823 | SCN2A | c.4780T= (p.Trp1594=) c.*3099T= (n.*3099T=) c.*2767T= (n.*2767T=) c.*5303T= (n.*5303T=) c.*2722T= (n.*2722T=) c.4384T= (p.Trp1462=) n.8211T= c.4750T= (p.Trp1584=) c.4027T= (p.Trp1343=) c.2578T= (p.Trp860=) | |
2 | g.165386975G>A | CA349036829 | SCN2A | c.4781G>A (p.Trp1594Ter) c.*3100G>A (n.*3100G>A) c.*2768G>A (n.*2768G>A) c.*5304G>A (n.*5304G>A) c.*2723G>A (n.*2723G>A) c.4385G>A (p.Trp1462Ter) n.8212G>A c.4751G>A (p.Trp1584Ter) c.4028G>A (p.Trp1343Ter) c.2579G>A (p.Trp860Ter) | dbSNP COSMIC COSMIC |
2 | g.165386975G>C | CA349036830 | SCN2A | c.4781G>C (p.Trp1594Ser) c.*3100G>C (n.*3100G>C) c.*2768G>C (n.*2768G>C) c.*5304G>C (n.*5304G>C) c.*2723G>C (n.*2723G>C) c.4385G>C (p.Trp1462Ser) n.8212G>C c.4751G>C (p.Trp1584Ser) c.4028G>C (p.Trp1343Ser) c.2579G>C (p.Trp860Ser) | |
2 | g.165386975G= | CA1304563824 | SCN2A | c.4781G= (p.Trp1594=) c.*3100G= (n.*3100G=) c.*2768G= (n.*2768G=) c.*5304G= (n.*5304G=) c.*2723G= (n.*2723G=) c.4385G= (p.Trp1462=) n.8212G= c.4751G= (p.Trp1584=) c.4028G= (p.Trp1343=) c.2579G= (p.Trp860=) | |
2 | g.165386975G>T | CA349036832 | SCN2A | c.4781G>T (p.Trp1594Leu) c.*3100G>T (n.*3100G>T) c.*2768G>T (n.*2768G>T) c.*5304G>T (n.*5304G>T) c.*2723G>T (n.*2723G>T) c.4385G>T (p.Trp1462Leu) n.8212G>T c.4751G>T (p.Trp1584Leu) c.4028G>T (p.Trp1343Leu) c.2579G>T (p.Trp860Leu) | |
2 | g.165386976G>A | CA349036834 | SCN2A | c.4782G>A (p.Trp1594Ter) c.*3101G>A (n.*3101G>A) c.*2769G>A (n.*2769G>A) c.*5305G>A (n.*5305G>A) c.*2724G>A (n.*2724G>A) c.4386G>A (p.Trp1462Ter) n.8213G>A c.4752G>A (p.Trp1584Ter) c.4029G>A (p.Trp1343Ter) c.2580G>A (p.Trp860Ter) | dbSNP COSMIC COSMIC |
2 | g.165386976G>C | CA16603919 | SCN2A | c.4782G>C (p.Trp1594Cys) c.*3101G>C (n.*3101G>C) c.*2769G>C (n.*2769G>C) c.*5305G>C (n.*5305G>C) c.*2724G>C (n.*2724G>C) c.4386G>C (p.Trp1462Cys) n.8213G>C c.4752G>C (p.Trp1584Cys) c.4029G>C (p.Trp1343Cys) c.2580G>C (p.Trp860Cys) | ClinVar dbSNP |
2 | g.165386976G= | CA1304563825 | SCN2A | c.4782G= (p.Trp1594=) c.*3101G= (n.*3101G=) c.*2769G= (n.*2769G=) c.*5305G= (n.*5305G=) c.*2724G= (n.*2724G=) c.4386G= (p.Trp1462=) n.8213G= c.4752G= (p.Trp1584=) c.4029G= (p.Trp1343=) c.2580G= (p.Trp860=) | |
2 | g.165386976G>T | CA349036836 | SCN2A | c.4782G>T (p.Trp1594Cys) c.*3101G>T (n.*3101G>T) c.*2769G>T (n.*2769G>T) c.*5305G>T (n.*5305G>T) c.*2724G>T (n.*2724G>T) c.4386G>T (p.Trp1462Cys) n.8213G>T c.4752G>T (p.Trp1584Cys) c.4029G>T (p.Trp1343Cys) c.2580G>T (p.Trp860Cys) | |
2 | g.165386977A>C | CA349036838 | SCN2A | c.4783A>C (p.Asn1595His) c.*3102A>C (n.*3102A>C) c.*2770A>C (n.*2770A>C) c.*5306A>C (n.*5306A>C) c.*2725A>C (n.*2725A>C) c.4387A>C (p.Asn1463His) n.8214A>C c.4753A>C (p.Asn1585His) c.4030A>C (p.Asn1344His) c.2581A>C (p.Asn861His) | |
2 | g.165386977A>G | CA349036839 | SCN2A | c.4783A>G (p.Asn1595Asp) c.*3102A>G (n.*3102A>G) c.*2770A>G (n.*2770A>G) c.*5306A>G (n.*5306A>G) c.*2725A>G (n.*2725A>G) c.4387A>G (p.Asn1463Asp) n.8214A>G c.4753A>G (p.Asn1585Asp) c.4030A>G (p.Asn1344Asp) c.2581A>G (p.Asn861Asp) | |
2 | g.165386977A>T | CA349036841 | SCN2A | c.4783A>T (p.Asn1595Tyr) c.*3102A>T (n.*3102A>T) c.*2770A>T (n.*2770A>T) c.*5306A>T (n.*5306A>T) c.*2725A>T (n.*2725A>T) c.4387A>T (p.Asn1463Tyr) n.8214A>T c.4753A>T (p.Asn1585Tyr) c.4030A>T (p.Asn1344Tyr) c.2581A>T (p.Asn861Tyr) | |
2 | g.165386978A>C | CA349036842 | SCN2A | c.4784A>C (p.Asn1595Thr) c.*3103A>C (n.*3103A>C) c.*2771A>C (n.*2771A>C) c.*5307A>C (n.*5307A>C) c.*2726A>C (n.*2726A>C) c.4388A>C (p.Asn1463Thr) n.8215A>C c.4754A>C (p.Asn1585Thr) c.4031A>C (p.Asn1344Thr) c.2582A>C (p.Asn861Thr) | |
2 | g.165386978A>G | CA349036844 | SCN2A | c.4784A>G (p.Asn1595Ser) c.*3103A>G (n.*3103A>G) c.*2771A>G (n.*2771A>G) c.*5307A>G (n.*5307A>G) c.*2726A>G (n.*2726A>G) c.4388A>G (p.Asn1463Ser) n.8215A>G c.4754A>G (p.Asn1585Ser) c.4031A>G (p.Asn1344Ser) c.2582A>G (p.Asn861Ser) | |
2 | g.165386978A>T | CA349036845 | SCN2A | c.4784A>T (p.Asn1595Ile) c.*3103A>T (n.*3103A>T) c.*2771A>T (n.*2771A>T) c.*5307A>T (n.*5307A>T) c.*2726A>T (n.*2726A>T) c.4388A>T (p.Asn1463Ile) n.8215A>T c.4754A>T (p.Asn1585Ile) c.4031A>T (p.Asn1344Ile) c.2582A>T (p.Asn861Ile) | |
2 | g.165386979T>A | CA349036847 | SCN2A | c.4785T>A (p.Asn1595Lys) c.*3104T>A (n.*3104T>A) c.*2772T>A (n.*2772T>A) c.*5308T>A (n.*5308T>A) c.*2727T>A (n.*2727T>A) c.4389T>A (p.Asn1463Lys) n.8216T>A c.4755T>A (p.Asn1585Lys) c.4032T>A (p.Asn1344Lys) c.2583T>A (p.Asn861Lys) | |
2 | g.165386979T>C | CA429972497 | SCN2A | c.4785T>C (p.Asn1595=) c.*3104T>C (n.*3104T>C) c.*2772T>C (n.*2772T>C) c.*5308T>C (n.*5308T>C) c.*2727T>C (n.*2727T>C) c.4389T>C (p.Asn1463=) n.8216T>C c.4755T>C (p.Asn1585=) c.4032T>C (p.Asn1344=) c.2583T>C (p.Asn861=) | |
2 | g.165386979T>G | CA349036849 | SCN2A | c.4785T>G (p.Asn1595Lys) c.*3104T>G (n.*3104T>G) c.*2772T>G (n.*2772T>G) c.*5308T>G (n.*5308T>G) c.*2727T>G (n.*2727T>G) c.4389T>G (p.Asn1463Lys) n.8216T>G c.4755T>G (p.Asn1585Lys) c.4032T>G (p.Asn1344Lys) c.2583T>G (p.Asn861Lys) | |
2 | g.165386980A>C | CA349036850 | SCN2A | c.4786A>C (p.Ile1596Leu) c.*3105A>C (n.*3105A>C) c.*2773A>C (n.*2773A>C) c.*5309A>C (n.*5309A>C) c.*2728A>C (n.*2728A>C) c.4390A>C (p.Ile1464Leu) n.8217A>C c.4756A>C (p.Ile1586Leu) c.4033A>C (p.Ile1345Leu) c.2584A>C (p.Ile862Leu) | |
2 | g.165386980A>G | CA349036852 | SCN2A | c.4786A>G (p.Ile1596Val) c.*3105A>G (n.*3105A>G) c.*2773A>G (n.*2773A>G) c.*5309A>G (n.*5309A>G) c.*2728A>G (n.*2728A>G) c.4390A>G (p.Ile1464Val) n.8217A>G c.4756A>G (p.Ile1586Val) c.4033A>G (p.Ile1345Val) c.2584A>G (p.Ile862Val) | |
2 | g.165386980A>T | CA349036853 | SCN2A | c.4786A>T (p.Ile1596Phe) c.*3105A>T (n.*3105A>T) c.*2773A>T (n.*2773A>T) c.*5309A>T (n.*5309A>T) c.*2728A>T (n.*2728A>T) c.4390A>T (p.Ile1464Phe) n.8217A>T c.4756A>T (p.Ile1586Phe) c.4033A>T (p.Ile1345Phe) c.2584A>T (p.Ile862Phe) | |
2 | g.165386981T>A | CA349036855 | SCN2A | c.4787T>A (p.Ile1596Asn) c.*3106T>A (n.*3106T>A) c.*2774T>A (n.*2774T>A) c.*5310T>A (n.*5310T>A) c.*2729T>A (n.*2729T>A) c.4391T>A (p.Ile1464Asn) n.8218T>A c.4757T>A (p.Ile1586Asn) c.4034T>A (p.Ile1345Asn) c.2585T>A (p.Ile862Asn) | |
2 | g.165386981T>C | CA349036857 | SCN2A | c.4787T>C (p.Ile1596Thr) c.*3106T>C (n.*3106T>C) c.*2774T>C (n.*2774T>C) c.*5310T>C (n.*5310T>C) c.*2729T>C (n.*2729T>C) c.4391T>C (p.Ile1464Thr) n.8218T>C c.4757T>C (p.Ile1586Thr) c.4034T>C (p.Ile1345Thr) c.2585T>C (p.Ile862Thr) | |
2 | g.165386981T>G | CA349036859 | SCN2A | c.4787T>G (p.Ile1596Ser) c.*3106T>G (n.*3106T>G) c.*2774T>G (n.*2774T>G) c.*5310T>G (n.*5310T>G) c.*2729T>G (n.*2729T>G) c.4391T>G (p.Ile1464Ser) n.8218T>G c.4757T>G (p.Ile1586Ser) c.4034T>G (p.Ile1345Ser) c.2585T>G (p.Ile862Ser) | ClinVar dbSNP |
2 | g.165386982T>A | CA429972501 | SCN2A | c.4788T>A (p.Ile1596=) c.*3107T>A (n.*3107T>A) c.*2775T>A (n.*2775T>A) c.*5311T>A (n.*5311T>A) c.*2730T>A (n.*2730T>A) c.4392T>A (p.Ile1464=) n.8219T>A c.4758T>A (p.Ile1586=) c.4035T>A (p.Ile1345=) c.2586T>A (p.Ile862=) | |
2 | g.165386982T>C | CA429972499 | SCN2A | c.4788T>C (p.Ile1596=) c.*3107T>C (n.*3107T>C) c.*2775T>C (n.*2775T>C) c.*5311T>C (n.*5311T>C) c.*2730T>C (n.*2730T>C) c.4392T>C (p.Ile1464=) n.8219T>C c.4758T>C (p.Ile1586=) c.4035T>C (p.Ile1345=) c.2586T>C (p.Ile862=) | |
2 | g.165386982T>G | CA349036860 | SCN2A | c.4788T>G (p.Ile1596Met) c.*3107T>G (n.*3107T>G) c.*2775T>G (n.*2775T>G) c.*5311T>G (n.*5311T>G) c.*2730T>G (n.*2730T>G) c.4392T>G (p.Ile1464Met) n.8219T>G c.4758T>G (p.Ile1586Met) c.4035T>G (p.Ile1345Met) c.2586T>G (p.Ile862Met) | |
2 | g.165386983T>A | CA349036862 | SCN2A | c.4789T>A (p.Phe1597Ile) c.*3108T>A (n.*3108T>A) c.*2776T>A (n.*2776T>A) c.*5312T>A (n.*5312T>A) c.*2731T>A (n.*2731T>A) c.4393T>A (p.Phe1465Ile) n.8220T>A c.4759T>A (p.Phe1587Ile) c.4036T>A (p.Phe1346Ile) c.2587T>A (p.Phe863Ile) | |
2 | g.165386983T>C | CA349036863 | SCN2A | c.4789T>C (p.Phe1597Leu) c.*3108T>C (n.*3108T>C) c.*2776T>C (n.*2776T>C) c.*5312T>C (n.*5312T>C) c.*2731T>C (n.*2731T>C) c.4393T>C (p.Phe1465Leu) n.8220T>C c.4759T>C (p.Phe1587Leu) c.4036T>C (p.Phe1346Leu) c.2587T>C (p.Phe863Leu) | ClinVar |
2 | g.165386983T>G | CA349036865 | SCN2A | c.4789T>G (p.Phe1597Val) c.*3108T>G (n.*3108T>G) c.*2776T>G (n.*2776T>G) c.*5312T>G (n.*5312T>G) c.*2731T>G (n.*2731T>G) c.4393T>G (p.Phe1465Val) n.8220T>G c.4759T>G (p.Phe1587Val) c.4036T>G (p.Phe1346Val) c.2587T>G (p.Phe863Val) | |
2 | g.165386984T>A | CA349036866 | SCN2A | c.4790T>A (p.Phe1597Tyr) c.*3109T>A (n.*3109T>A) c.*2777T>A (n.*2777T>A) c.*5313T>A (n.*5313T>A) c.*2732T>A (n.*2732T>A) c.4394T>A (p.Phe1465Tyr) n.8221T>A c.4760T>A (p.Phe1587Tyr) c.4037T>A (p.Phe1346Tyr) c.2588T>A (p.Phe863Tyr) | |
2 | g.165386984T>C | CA349036869 | SCN2A | c.4790T>C (p.Phe1597Ser) c.*3109T>C (n.*3109T>C) c.*2777T>C (n.*2777T>C) c.*5313T>C (n.*5313T>C) c.*2732T>C (n.*2732T>C) c.4394T>C (p.Phe1465Ser) n.8221T>C c.4760T>C (p.Phe1587Ser) c.4037T>C (p.Phe1346Ser) c.2588T>C (p.Phe863Ser) | |
2 | g.165386984T>G | CA349036871 | SCN2A | c.4790T>G (p.Phe1597Cys) c.*3109T>G (n.*3109T>G) c.*2777T>G (n.*2777T>G) c.*5313T>G (n.*5313T>G) c.*2732T>G (n.*2732T>G) c.4394T>G (p.Phe1465Cys) n.8221T>G c.4760T>G (p.Phe1587Cys) c.4037T>G (p.Phe1346Cys) c.2588T>G (p.Phe863Cys) | |
2 | g.165386985T>A | CA349036873 | SCN2A | c.4791T>A (p.Phe1597Leu) c.*3110T>A (n.*3110T>A) c.*2778T>A (n.*2778T>A) c.*5314T>A (n.*5314T>A) c.*2733T>A (n.*2733T>A) c.4395T>A (p.Phe1465Leu) n.8222T>A c.4761T>A (p.Phe1587Leu) c.4038T>A (p.Phe1346Leu) c.2589T>A (p.Phe863Leu) | ClinVar |
2 | g.165386985T>C | CA429972505 | SCN2A | c.4791T>C (p.Phe1597=) c.*3110T>C (n.*3110T>C) c.*2778T>C (n.*2778T>C) c.*5314T>C (n.*5314T>C) c.*2733T>C (n.*2733T>C) c.4395T>C (p.Phe1465=) n.8222T>C c.4761T>C (p.Phe1587=) c.4038T>C (p.Phe1346=) c.2589T>C (p.Phe863=) | |
2 | g.165386985T>G | CA349036874 | SCN2A | c.4791T>G (p.Phe1597Leu) c.*3110T>G (n.*3110T>G) c.*2778T>G (n.*2778T>G) c.*5314T>G (n.*5314T>G) c.*2733T>G (n.*2733T>G) c.4395T>G (p.Phe1465Leu) n.8222T>G c.4761T>G (p.Phe1587Leu) c.4038T>G (p.Phe1346Leu) c.2589T>G (p.Phe863Leu) | |
2 | g.165386986G>A | CA349036876 | SCN2A | c.4792G>A (p.Asp1598Asn) c.*3111G>A (n.*3111G>A) c.*2779G>A (n.*2779G>A) c.*5315G>A (n.*5315G>A) c.*2734G>A (n.*2734G>A) c.4396G>A (p.Asp1466Asn) n.8223G>A c.4762G>A (p.Asp1588Asn) c.4039G>A (p.Asp1347Asn) c.2590G>A (p.Asp864Asn) | COSMIC COSMIC |
2 | g.165386986G>C | CA349036878 | SCN2A | c.4792G>C (p.Asp1598His) c.*3111G>C (n.*3111G>C) c.*2779G>C (n.*2779G>C) c.*5315G>C (n.*5315G>C) c.*2734G>C (n.*2734G>C) c.4396G>C (p.Asp1466His) n.8223G>C c.4762G>C (p.Asp1588His) c.4039G>C (p.Asp1347His) c.2590G>C (p.Asp864His) | |
2 | g.165386986G>T | CA349036879 | SCN2A | c.4792G>T (p.Asp1598Tyr) c.*3111G>T (n.*3111G>T) c.*2779G>T (n.*2779G>T) c.*5315G>T (n.*5315G>T) c.*2734G>T (n.*2734G>T) c.4396G>T (p.Asp1466Tyr) n.8223G>T c.4762G>T (p.Asp1588Tyr) c.4039G>T (p.Asp1347Tyr) c.2590G>T (p.Asp864Tyr) | ClinVar dbSNP |
2 | g.165386987A>C | CA349036880 | SCN2A | c.4793A>C (p.Asp1598Ala) c.*3112A>C (n.*3112A>C) c.*2780A>C (n.*2780A>C) c.*5316A>C (n.*5316A>C) c.*2735A>C (n.*2735A>C) c.4397A>C (p.Asp1466Ala) n.8224A>C c.4763A>C (p.Asp1588Ala) c.4040A>C (p.Asp1347Ala) c.2591A>C (p.Asp864Ala) | |
2 | g.165386987A>G | CA349036882 | SCN2A | c.4793A>G (p.Asp1598Gly) c.*3112A>G (n.*3112A>G) c.*2780A>G (n.*2780A>G) c.*5316A>G (n.*5316A>G) c.*2735A>G (n.*2735A>G) c.4397A>G (p.Asp1466Gly) n.8224A>G c.4763A>G (p.Asp1588Gly) c.4040A>G (p.Asp1347Gly) c.2591A>G (p.Asp864Gly) | |
2 | g.165386987A>T | CA349036884 | SCN2A | c.4793A>T (p.Asp1598Val) c.*3112A>T (n.*3112A>T) c.*2780A>T (n.*2780A>T) c.*5316A>T (n.*5316A>T) c.*2735A>T (n.*2735A>T) c.4397A>T (p.Asp1466Val) n.8224A>T c.4763A>T (p.Asp1588Val) c.4040A>T (p.Asp1347Val) c.2591A>T (p.Asp864Val) | |
2 | g.165386988T>A | CA349036885 | SCN2A | c.4794T>A (p.Asp1598Glu) c.*3113T>A (n.*3113T>A) c.*2781T>A (n.*2781T>A) c.*5317T>A (n.*5317T>A) c.*2736T>A (n.*2736T>A) c.4398T>A (p.Asp1466Glu) n.8225T>A c.4764T>A (p.Asp1588Glu) c.4041T>A (p.Asp1347Glu) c.2592T>A (p.Asp864Glu) | |
2 | g.165386988T>C | CA429972507 | SCN2A | c.4794T>C (p.Asp1598=) c.*3113T>C (n.*3113T>C) c.*2781T>C (n.*2781T>C) c.*5317T>C (n.*5317T>C) c.*2736T>C (n.*2736T>C) c.4398T>C (p.Asp1466=) n.8225T>C c.4764T>C (p.Asp1588=) c.4041T>C (p.Asp1347=) c.2592T>C (p.Asp864=) | |
2 | g.165386988T>G | CA349036887 | SCN2A | c.4794T>G (p.Asp1598Glu) c.*3113T>G (n.*3113T>G) c.*2781T>G (n.*2781T>G) c.*5317T>G (n.*5317T>G) c.*2736T>G (n.*2736T>G) c.4398T>G (p.Asp1466Glu) n.8225T>G c.4764T>G (p.Asp1588Glu) c.4041T>G (p.Asp1347Glu) c.2592T>G (p.Asp864Glu) | |
2 | g.165386990_165386991del | CA2586970193 | SCN2A | c.4796_4797del (p.Phe1599CysfsTer14) c.*3115_*3116del (n.*3115_*3116del) c.*2783_*2784del (n.*2783_*2784del) c.*5319_*5320del (n.*5319_*5320del) c.*2738_*2739del (n.*2738_*2739del) c.4400_4401del (p.Phe1467CysfsTer14) n.8227_8228del c.4766_4767del (p.Phe1589CysfsTer14) c.4043_4044del (p.Phe1348CysfsTer14) c.2594_2595del (p.Phe865CysfsTer14) | |
2 | g.165386989T>A | CA349036889 | SCN2A | c.4795T>A (p.Phe1599Ile) c.*3114T>A (n.*3114T>A) c.*2782T>A (n.*2782T>A) c.*5318T>A (n.*5318T>A) c.*2737T>A (n.*2737T>A) c.4399T>A (p.Phe1467Ile) n.8226T>A c.4765T>A (p.Phe1589Ile) c.4042T>A (p.Phe1348Ile) c.2593T>A (p.Phe865Ile) | gnomAD v4 |
2 | g.165386989T>C | CA349036890 | SCN2A | c.4795T>C (p.Phe1599Leu) c.*3114T>C (n.*3114T>C) c.*2782T>C (n.*2782T>C) c.*5318T>C (n.*5318T>C) c.*2737T>C (n.*2737T>C) c.4399T>C (p.Phe1467Leu) n.8226T>C c.4765T>C (p.Phe1589Leu) c.4042T>C (p.Phe1348Leu) c.2593T>C (p.Phe865Leu) | |
2 | g.165386989T>G | CA349036892 | SCN2A | c.4795T>G (p.Phe1599Val) c.*3114T>G (n.*3114T>G) c.*2782T>G (n.*2782T>G) c.*5318T>G (n.*5318T>G) c.*2737T>G (n.*2737T>G) c.4399T>G (p.Phe1467Val) n.8226T>G c.4765T>G (p.Phe1589Val) c.4042T>G (p.Phe1348Val) c.2593T>G (p.Phe865Val) | |
2 | g.165386990T>A | CA349036895 | SCN2A | c.4796T>A (p.Phe1599Tyr) c.*3115T>A (n.*3115T>A) c.*2783T>A (n.*2783T>A) c.*5319T>A (n.*5319T>A) c.*2738T>A (n.*2738T>A) c.4400T>A (p.Phe1467Tyr) n.8227T>A c.4766T>A (p.Phe1589Tyr) c.4043T>A (p.Phe1348Tyr) c.2594T>A (p.Phe865Tyr) | |
2 | g.165386990T>C | CA349036897 | SCN2A | c.4796T>C (p.Phe1599Ser) c.*3115T>C (n.*3115T>C) c.*2783T>C (n.*2783T>C) c.*5319T>C (n.*5319T>C) c.*2738T>C (n.*2738T>C) c.4400T>C (p.Phe1467Ser) n.8227T>C c.4766T>C (p.Phe1589Ser) c.4043T>C (p.Phe1348Ser) c.2594T>C (p.Phe865Ser) | |
2 | g.165386990T>G | CA349036894 | SCN2A | c.4796T>G (p.Phe1599Cys) c.*3115T>G (n.*3115T>G) c.*2783T>G (n.*2783T>G) c.*5319T>G (n.*5319T>G) c.*2738T>G (n.*2738T>G) c.4400T>G (p.Phe1467Cys) n.8227T>G c.4766T>G (p.Phe1589Cys) c.4043T>G (p.Phe1348Cys) c.2594T>G (p.Phe865Cys) | |
2 | g.165386991T>A | CA349036900 | SCN2A | c.4797T>A (p.Phe1599Leu) c.*3116T>A (n.*3116T>A) c.*2784T>A (n.*2784T>A) c.*5320T>A (n.*5320T>A) c.*2739T>A (n.*2739T>A) c.4401T>A (p.Phe1467Leu) n.8228T>A c.4767T>A (p.Phe1589Leu) c.4044T>A (p.Phe1348Leu) c.2595T>A (p.Phe865Leu) | |
2 | g.165386991T>C | CA1940319 | SCN2A | c.4797T>C (p.Phe1599=) c.*3116T>C (n.*3116T>C) c.*2784T>C (n.*2784T>C) c.*5320T>C (n.*5320T>C) c.*2739T>C (n.*2739T>C) c.4401T>C (p.Phe1467=) n.8228T>C c.4767T>C (p.Phe1589=) c.4044T>C (p.Phe1348=) c.2595T>C (p.Phe865=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386991T>G | CA349036899 | SCN2A | c.4797T>G (p.Phe1599Leu) c.*3116T>G (n.*3116T>G) c.*2784T>G (n.*2784T>G) c.*5320T>G (n.*5320T>G) c.*2739T>G (n.*2739T>G) c.4401T>G (p.Phe1467Leu) n.8228T>G c.4767T>G (p.Phe1589Leu) c.4044T>G (p.Phe1348Leu) c.2595T>G (p.Phe865Leu) | |
2 | g.165386991T= | CA1304563826 | SCN2A | c.4797T= (p.Phe1599=) c.*3116T= (n.*3116T=) c.*2784T= (n.*2784T=) c.*5320T= (n.*5320T=) c.*2739T= (n.*2739T=) c.4401T= (p.Phe1467=) n.8228T= c.4767T= (p.Phe1589=) c.4044T= (p.Phe1348=) c.2595T= (p.Phe865=) | |
2 | g.165386992G>A | CA349036901 | SCN2A | c.4798G>A (p.Val1600Met) c.*3117G>A (n.*3117G>A) c.*2785G>A (n.*2785G>A) c.*5321G>A (n.*5321G>A) c.*2740G>A (n.*2740G>A) c.4402G>A (p.Val1468Met) n.8229G>A c.4768G>A (p.Val1590Met) c.4045G>A (p.Val1349Met) c.2596G>A (p.Val866Met) | |
2 | g.165386992G>C | CA349036903 | SCN2A | c.4798G>C (p.Val1600Leu) c.*3117G>C (n.*3117G>C) c.*2785G>C (n.*2785G>C) c.*5321G>C (n.*5321G>C) c.*2740G>C (n.*2740G>C) c.4402G>C (p.Val1468Leu) n.8229G>C c.4768G>C (p.Val1590Leu) c.4045G>C (p.Val1349Leu) c.2596G>C (p.Val866Leu) | |
2 | g.165386992G>T | CA349036905 | SCN2A | c.4798G>T (p.Val1600Leu) c.*3117G>T (n.*3117G>T) c.*2785G>T (n.*2785G>T) c.*5321G>T (n.*5321G>T) c.*2740G>T (n.*2740G>T) c.4402G>T (p.Val1468Leu) n.8229G>T c.4768G>T (p.Val1590Leu) c.4045G>T (p.Val1349Leu) c.2596G>T (p.Val866Leu) | |
2 | g.165386993T>A | CA349036907 | SCN2A | c.4799T>A (p.Val1600Glu) c.*3118T>A (n.*3118T>A) c.*2786T>A (n.*2786T>A) c.*5322T>A (n.*5322T>A) c.*2741T>A (n.*2741T>A) c.4403T>A (p.Val1468Glu) n.8230T>A c.4769T>A (p.Val1590Glu) c.4046T>A (p.Val1349Glu) c.2597T>A (p.Val866Glu) | |
2 | g.165386993T>C | CA349036909 | SCN2A | c.4799T>C (p.Val1600Ala) c.*3118T>C (n.*3118T>C) c.*2786T>C (n.*2786T>C) c.*5322T>C (n.*5322T>C) c.*2741T>C (n.*2741T>C) c.4403T>C (p.Val1468Ala) n.8230T>C c.4769T>C (p.Val1590Ala) c.4046T>C (p.Val1349Ala) c.2597T>C (p.Val866Ala) | |
2 | g.165386993T>G | CA349036910 | SCN2A | c.4799T>G (p.Val1600Gly) c.*3118T>G (n.*3118T>G) c.*2786T>G (n.*2786T>G) c.*5322T>G (n.*5322T>G) c.*2741T>G (n.*2741T>G) c.4403T>G (p.Val1468Gly) n.8230T>G c.4769T>G (p.Val1590Gly) c.4046T>G (p.Val1349Gly) c.2597T>G (p.Val866Gly) | |
2 | g.165386994G>A | CA429972516 | SCN2A | c.4800G>A (p.Val1600=) c.*3119G>A (n.*3119G>A) c.*2787G>A (n.*2787G>A) c.*5323G>A (n.*5323G>A) c.*2742G>A (n.*2742G>A) c.4404G>A (p.Val1468=) n.8231G>A c.4770G>A (p.Val1590=) c.4047G>A (p.Val1349=) c.2598G>A (p.Val866=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.165386994G>C | CA429972517 | SCN2A | c.4800G>C (p.Val1600=) c.*3119G>C (n.*3119G>C) c.*2787G>C (n.*2787G>C) c.*5323G>C (n.*5323G>C) c.*2742G>C (n.*2742G>C) c.4404G>C (p.Val1468=) n.8231G>C c.4770G>C (p.Val1590=) c.4047G>C (p.Val1349=) c.2598G>C (p.Val866=) | gnomAD v4 |
2 | g.165386994G= | CA1304563827 | SCN2A | c.4800G= (p.Val1600=) c.*3119G= (n.*3119G=) c.*2787G= (n.*2787G=) c.*5323G= (n.*5323G=) c.*2742G= (n.*2742G=) c.4404G= (p.Val1468=) n.8231G= c.4770G= (p.Val1590=) c.4047G= (p.Val1349=) c.2598G= (p.Val866=) | |
2 | g.165386994G>T | CA429972519 | SCN2A | c.4800G>T (p.Val1600=) c.*3119G>T (n.*3119G>T) c.*2787G>T (n.*2787G>T) c.*5323G>T (n.*5323G>T) c.*2742G>T (n.*2742G>T) c.4404G>T (p.Val1468=) n.8231G>T c.4770G>T (p.Val1590=) c.4047G>T (p.Val1349=) c.2598G>T (p.Val866=) | gnomAD v4 |
2 | g.165386995G>A | CA349036912 | SCN2A | c.4801G>A (p.Val1601Met) c.*3120G>A (n.*3120G>A) c.*2788G>A (n.*2788G>A) c.*5324G>A (n.*5324G>A) c.*2743G>A (n.*2743G>A) c.4405G>A (p.Val1469Met) n.8232G>A c.4771G>A (p.Val1591Met) c.4048G>A (p.Val1350Met) c.2599G>A (p.Val867Met) | ClinVar dbSNP |
2 | g.165386995G>C | CA349036914 | SCN2A | c.4801G>C (p.Val1601Leu) c.*3120G>C (n.*3120G>C) c.*2788G>C (n.*2788G>C) c.*5324G>C (n.*5324G>C) c.*2743G>C (n.*2743G>C) c.4405G>C (p.Val1469Leu) n.8232G>C c.4771G>C (p.Val1591Leu) c.4048G>C (p.Val1350Leu) c.2599G>C (p.Val867Leu) | |
2 | g.165386995G= | CA1304563828 | SCN2A | c.4801G= (p.Val1601=) c.*3120G= (n.*3120G=) c.*2788G= (n.*2788G=) c.*5324G= (n.*5324G=) c.*2743G= (n.*2743G=) c.4405G= (p.Val1469=) n.8232G= c.4771G= (p.Val1591=) c.4048G= (p.Val1350=) c.2599G= (p.Val867=) | |
2 | g.165386995G>T | CA349036915 | SCN2A | c.4801G>T (p.Val1601Leu) c.*3120G>T (n.*3120G>T) c.*2788G>T (n.*2788G>T) c.*5324G>T (n.*5324G>T) c.*2743G>T (n.*2743G>T) c.4405G>T (p.Val1469Leu) n.8232G>T c.4771G>T (p.Val1591Leu) c.4048G>T (p.Val1350Leu) c.2599G>T (p.Val867Leu) | ClinVar dbSNP |
2 | g.165386996T>A | CA349036920 | SCN2A | c.4802T>A (p.Val1601Glu) c.*3121T>A (n.*3121T>A) c.*2789T>A (n.*2789T>A) c.*5325T>A (n.*5325T>A) c.*2744T>A (n.*2744T>A) c.4406T>A (p.Val1469Glu) n.8233T>A c.4772T>A (p.Val1591Glu) c.4049T>A (p.Val1350Glu) c.2600T>A (p.Val867Glu) | |
2 | g.165386996T>C | CA349036918 | SCN2A | c.4802T>C (p.Val1601Ala) c.*3121T>C (n.*3121T>C) c.*2789T>C (n.*2789T>C) c.*5325T>C (n.*5325T>C) c.*2744T>C (n.*2744T>C) c.4406T>C (p.Val1469Ala) n.8233T>C c.4772T>C (p.Val1591Ala) c.4049T>C (p.Val1350Ala) c.2600T>C (p.Val867Ala) | ClinVar dbSNP |
2 | g.165386996T>G | CA349036917 | SCN2A | c.4802T>G (p.Val1601Gly) c.*3121T>G (n.*3121T>G) c.*2789T>G (n.*2789T>G) c.*5325T>G (n.*5325T>G) c.*2744T>G (n.*2744T>G) c.4406T>G (p.Val1469Gly) n.8233T>G c.4772T>G (p.Val1591Gly) c.4049T>G (p.Val1350Gly) c.2600T>G (p.Val867Gly) | |
2 | g.165386996T= | CA1304563829 | SCN2A | c.4802T= (p.Val1601=) c.*3121T= (n.*3121T=) c.*2789T= (n.*2789T=) c.*5325T= (n.*5325T=) c.*2744T= (n.*2744T=) c.4406T= (p.Val1469=) n.8233T= c.4772T= (p.Val1591=) c.4049T= (p.Val1350=) c.2600T= (p.Val867=) | |
2 | g.165386997G>A | CA429972522 | SCN2A | c.4803G>A (p.Val1601=) c.*3122G>A (n.*3122G>A) c.*2790G>A (n.*2790G>A) c.*5326G>A (n.*5326G>A) c.*2745G>A (n.*2745G>A) c.4407G>A (p.Val1469=) n.8234G>A c.4773G>A (p.Val1591=) c.4050G>A (p.Val1350=) c.2601G>A (p.Val867=) | COSMIC COSMIC |
2 | g.165386997G>C | CA429972523 | SCN2A | c.4803G>C (p.Val1601=) c.*3122G>C (n.*3122G>C) c.*2790G>C (n.*2790G>C) c.*5326G>C (n.*5326G>C) c.*2745G>C (n.*2745G>C) c.4407G>C (p.Val1469=) n.8234G>C c.4773G>C (p.Val1591=) c.4050G>C (p.Val1350=) c.2601G>C (p.Val867=) | |
2 | g.165386997G>T | CA429972524 | SCN2A | c.4803G>T (p.Val1601=) c.*3122G>T (n.*3122G>T) c.*2790G>T (n.*2790G>T) c.*5326G>T (n.*5326G>T) c.*2745G>T (n.*2745G>T) c.4407G>T (p.Val1469=) n.8234G>T c.4773G>T (p.Val1591=) c.4050G>T (p.Val1350=) c.2601G>T (p.Val867=) | |
2 | g.165386998G>A | CA349036921 | SCN2A | c.4804G>A (p.Val1602Ile) c.*3123G>A (n.*3123G>A) c.*2791G>A (n.*2791G>A) c.*5327G>A (n.*5327G>A) c.*2746G>A (n.*2746G>A) c.4408G>A (p.Val1470Ile) n.8235G>A c.4774G>A (p.Val1592Ile) c.4051G>A (p.Val1351Ile) c.2602G>A (p.Val868Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.165386998G>C | CA349036922 | SCN2A | c.4804G>C (p.Val1602Leu) c.*3123G>C (n.*3123G>C) c.*2791G>C (n.*2791G>C) c.*5327G>C (n.*5327G>C) c.*2746G>C (n.*2746G>C) c.4408G>C (p.Val1470Leu) n.8235G>C c.4774G>C (p.Val1592Leu) c.4051G>C (p.Val1351Leu) c.2602G>C (p.Val868Leu) | |
2 | g.165386998G= | CA1304563830 | SCN2A | c.4804G= (p.Val1602=) c.*3123G= (n.*3123G=) c.*2791G= (n.*2791G=) c.*5327G= (n.*5327G=) c.*2746G= (n.*2746G=) c.4408G= (p.Val1470=) n.8235G= c.4774G= (p.Val1592=) c.4051G= (p.Val1351=) c.2602G= (p.Val868=) | |
2 | g.165386998G>T | CA349036923 | SCN2A | c.4804G>T (p.Val1602Phe) c.*3123G>T (n.*3123G>T) c.*2791G>T (n.*2791G>T) c.*5327G>T (n.*5327G>T) c.*2746G>T (n.*2746G>T) c.4408G>T (p.Val1470Phe) n.8235G>T c.4774G>T (p.Val1592Phe) c.4051G>T (p.Val1351Phe) c.2602G>T (p.Val868Phe) | |
2 | g.165386999T>A | CA349036925 | SCN2A | c.4805T>A (p.Val1602Asp) c.*3124T>A (n.*3124T>A) c.*2792T>A (n.*2792T>A) c.*5328T>A (n.*5328T>A) c.*2747T>A (n.*2747T>A) c.4409T>A (p.Val1470Asp) n.8236T>A c.4775T>A (p.Val1592Asp) c.4052T>A (p.Val1351Asp) c.2603T>A (p.Val868Asp) | |
2 | g.165386999T>C | CA349036927 | SCN2A | c.4805T>C (p.Val1602Ala) c.*3124T>C (n.*3124T>C) c.*2792T>C (n.*2792T>C) c.*5328T>C (n.*5328T>C) c.*2747T>C (n.*2747T>C) c.4409T>C (p.Val1470Ala) n.8236T>C c.4775T>C (p.Val1592Ala) c.4052T>C (p.Val1351Ala) c.2603T>C (p.Val868Ala) | |
2 | g.165386999T>G | CA349036928 | SCN2A | c.4805T>G (p.Val1602Gly) c.*3124T>G (n.*3124T>G) c.*2792T>G (n.*2792T>G) c.*5328T>G (n.*5328T>G) c.*2747T>G (n.*2747T>G) c.4409T>G (p.Val1470Gly) n.8236T>G c.4775T>G (p.Val1592Gly) c.4052T>G (p.Val1351Gly) c.2603T>G (p.Val868Gly) | |
2 | g.165387000C>A | CA429972527 | SCN2A | c.4806C>A (p.Val1602=) c.*3125C>A (n.*3125C>A) c.*2793C>A (n.*2793C>A) c.*5329C>A (n.*5329C>A) c.*2748C>A (n.*2748C>A) c.4410C>A (p.Val1470=) n.8237C>A c.4776C>A (p.Val1592=) c.4053C>A (p.Val1351=) c.2604C>A (p.Val868=) | gnomAD v4 |
2 | g.165387000C>G | CA429972528 | SCN2A | c.4806C>G (p.Val1602=) c.*3125C>G (n.*3125C>G) c.*2793C>G (n.*2793C>G) c.*5329C>G (n.*5329C>G) c.*2748C>G (n.*2748C>G) c.4410C>G (p.Val1470=) n.8237C>G c.4776C>G (p.Val1592=) c.4053C>G (p.Val1351=) c.2604C>G (p.Val868=) | |
2 | g.165387000C>T | CA429972529 | SCN2A | c.4806C>T (p.Val1602=) c.*3125C>T (n.*3125C>T) c.*2793C>T (n.*2793C>T) c.*5329C>T (n.*5329C>T) c.*2748C>T (n.*2748C>T) c.4410C>T (p.Val1470=) n.8237C>T c.4776C>T (p.Val1592=) c.4053C>T (p.Val1351=) c.2604C>T (p.Val868=) | |
2 | g.165387001A>C | CA349036930 | SCN2A | c.4807A>C (p.Ile1603Leu) c.*3126A>C (n.*3126A>C) c.*2794A>C (n.*2794A>C) c.*5330A>C (n.*5330A>C) c.*2749A>C (n.*2749A>C) c.4411A>C (p.Ile1471Leu) n.8238A>C c.4777A>C (p.Ile1593Leu) c.4054A>C (p.Ile1352Leu) c.2605A>C (p.Ile869Leu) | |
2 | g.165387001A>G | CA349036931 | SCN2A | c.4807A>G (p.Ile1603Val) c.*3126A>G (n.*3126A>G) c.*2794A>G (n.*2794A>G) c.*5330A>G (n.*5330A>G) c.*2749A>G (n.*2749A>G) c.4411A>G (p.Ile1471Val) n.8238A>G c.4777A>G (p.Ile1593Val) c.4054A>G (p.Ile1352Val) c.2605A>G (p.Ile869Val) | |
2 | g.165387001A>T | CA349036933 | SCN2A | c.4807A>T (p.Ile1603Phe) c.*3126A>T (n.*3126A>T) c.*2794A>T (n.*2794A>T) c.*5330A>T (n.*5330A>T) c.*2749A>T (n.*2749A>T) c.4411A>T (p.Ile1471Phe) n.8238A>T c.4777A>T (p.Ile1593Phe) c.4054A>T (p.Ile1352Phe) c.2605A>T (p.Ile869Phe) |