Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165386904T>ACA349036585SCN2Ac.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)
2g.165386904T>CCA429972398SCN2Ac.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
2g.165386904T>GCA349036587SCN2Ac.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)
2g.165386905A>CCA349036588SCN2Ac.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)
2g.165386905A>GCA349036589SCN2Ac.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)
2g.165386905A>TCA349036590SCN2Ac.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)
2g.165386906T>ACA349036594SCN2Ac.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)
2g.165386906T>CCA349036596SCN2Ac.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
2g.165386906T>GCA349036592SCN2Ac.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)
2g.165386907T>ACA429972400SCN2Ac.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=)
2g.165386907T>CCA429972401SCN2Ac.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=)
2g.165386907T>GCA349036597SCN2Ac.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
2g.165386908G>ACA349036599SCN2Ac.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
2g.165386908G>CCA349036600SCN2Ac.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)
2g.165386908G>TCA349036602SCN2Ac.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
2g.165386909T>ACA349036603SCN2Ac.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)
2g.165386909T>CCA349036605SCN2Ac.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
2g.165386909T>GCA349036606SCN2Ac.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)
2g.165386909T=CA1304563798SCN2Ac.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=)
2g.165386910T>ACA429972402SCN2Ac.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=)
2g.165386910T>CCA429972403SCN2Ac.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=)
2g.165386910T>GCA429972404SCN2Ac.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=)
2g.165386911C>ACA349036607SCN2Ac.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)
2g.165386911C>GCA349036609SCN2Ac.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)
2g.165386911C>TCA429972405SCN2Ac.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=)
2g.165386912T>ACA349036611SCN2Ac.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)
2g.165386912T>CCA318003SCN2Ac.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
2g.165386912T>GCA349036613SCN2Ac.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)
2g.165386912T=CA1304563799SCN2Ac.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=)
2g.165386913G>ACA429972406SCN2Ac.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=)
2g.165386913G>CCA59751053SCN2Ac.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
2g.165386913G=CA1304563800SCN2Ac.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=)
2g.165386913G>TCA429972407SCN2Ac.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=)
2g.165386914T>ACA349036616SCN2Ac.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)
2g.165386914T>CCA349036617SCN2Ac.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)
2g.165386914T>GCA349036619SCN2Ac.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)
2g.165386915T>ACA349036621SCN2Ac.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)
2g.165386915T>CCA349036623SCN2Ac.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)
2g.165386915T>GCA349036622SCN2Ac.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)
2g.165386916C>ACA349036625SCN2Ac.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
2g.165386916C=CA1304563801SCN2Ac.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=)
2g.165386916C>GCA349036627SCN2Ac.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)
2g.165386916C>TCA429972409SCN2Ac.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=)
2g.165386917A>CCA349036629SCN2Ac.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)
2g.165386917A>GCA349036630SCN2Ac.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)
2g.165386917A>TCA349036631SCN2Ac.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)
2g.165386918C>ACA349036635SCN2Ac.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)
2g.165386918C>GCA349036636SCN2Ac.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)
2g.165386918C>TCA349036638SCN2Ac.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)
2g.165386919T>ACA429972411SCN2Ac.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=)
2g.165386919T>CCA429972412SCN2Ac.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=)
2g.165386919T>GCA429972413SCN2Ac.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=)
2g.165386919_165386920delinsTGCA1304563802SCN2Ac.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=)
2g.165386920G>ACA354201SCN2Ac.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
2g.165386920G>CCA349036640SCN2Ac.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)
2g.165386920G=CA1304563803SCN2Ac.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=)
2g.165386920G>TCA349036642SCN2Ac.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
2g.165386921delCA658821441SCN2Ac.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
2g.165386921G>ACA349036644SCN2Ac.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
2g.165386921G>CCA349036647SCN2Ac.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)
2g.165386921G>TCA349036646SCN2Ac.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)
2g.165386922A>CCA429972415SCN2Ac.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=)
2g.165386922A>GCA429972416SCN2Ac.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=)
2g.165386922A>TCA429972417SCN2Ac.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=)
2g.165386923G>ACA349036649SCN2Ac.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)
2g.165386923G>CCA349036650SCN2Ac.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)
2g.165386923G=CA1304563804SCN2Ac.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=)
2g.165386923G>TCA349036652SCN2Ac.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
2g.165386924A>CCA349036653SCN2Ac.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)
2g.165386924A>GCA349036655SCN2Ac.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
2g.165386924A>TCA349036656SCN2Ac.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)
2g.165386925A>CCA349036658SCN2Ac.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)
2g.165386925A>GCA429972419SCN2Ac.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=)
2g.165386925A>TCA349036660SCN2Ac.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)
2g.165386926T>ACA349036661SCN2Ac.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)
2g.165386926T>CCA349036663SCN2Ac.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)
2g.165386926T>GCA349036664SCN2Ac.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
2g.165386926T=CA1304563805SCN2Ac.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=)
2g.165386927G>ACA349036670SCN2Ac.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)
2g.165386927G>CCA349036668SCN2Ac.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)
2g.165386927G>TCA349036667SCN2Ac.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)
2g.165386928T>ACA349036671SCN2Ac.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
2g.165386928T>CCA429972423SCN2Ac.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
2g.165386928T>GCA349036672SCN2Ac.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)
2g.165386928T=CA1304563806SCN2Ac.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=)
2g.165386929G>ACA349036674SCN2Ac.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)
2g.165386929G>CCA349036676SCN2Ac.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)
2g.165386929G>TCA349036677SCN2Ac.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)
2g.165386930T>ACA349036678SCN2Ac.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)
2g.165386930T>CCA349036680SCN2Ac.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
2g.165386930T>GCA349036682SCN2Ac.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)
2g.165386930T=CA1304563807SCN2Ac.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=)
2g.165386931G>ACA429972424SCN2Ac.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
2g.165386931G>CCA429972425SCN2Ac.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=)
2g.165386931G>TCA429972426SCN2Ac.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=)
2g.165386932C>ACA349036683SCN2Ac.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)
2g.165386932C>GCA349036685SCN2Ac.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)
2g.165386932C>TCA429972427SCN2Ac.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
2g.165386933T>ACA349036686SCN2Ac.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)
2g.165386933T>CCA349036687SCN2Ac.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)
2g.165386933T>GCA349036689SCN2Ac.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)
2g.165386934G>ACA429972431SCN2Ac.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=)
2g.165386934G>CCA429972429SCN2Ac.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=)
2g.165386934G>TCA429972428SCN2Ac.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=)
2g.165386935A=CA1304563808SCN2Ac.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=)
2g.165386935A>CCA349036692SCN2Ac.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)
2g.165386935A>GCA349036694SCN2Ac.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)
2g.165386935A>TCA349036691SCN2Ac.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
2g.165386935_165386936insTCA2506734618SCN2Ac.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)
2g.165386936A>CCA349036699SCN2Ac.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)
2g.165386936A>GCA349036695SCN2Ac.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)
2g.165386936A>TCA349036697SCN2Ac.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)
2g.165386936_165386937insTCAAAGACTTGTTTGGTTACAAAATCAAAGCA2546252712SCN2Ac.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)
2g.165386937A>CCA349036701SCN2Ac.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)
2g.165386937A>GCA429972433SCN2Ac.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=)
2g.165386937A>TCA349036702SCN2Ac.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)
2g.165386938C>ACA349036703SCN2Ac.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)
2g.165386938C>GCA349036705SCN2Ac.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)
2g.165386938C>TCA429972435SCN2Ac.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=)
2g.165386939T>ACA349036707SCN2Ac.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)
2g.165386939T>CCA349036708SCN2Ac.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
2g.165386939T>GCA349036710SCN2Ac.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)
2g.165386939T=CA1304563809SCN2Ac.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=)
2g.165386940G>ACA429972436SCN2Ac.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=)
2g.165386940G>CCA429972437SCN2Ac.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=)
2g.165386940G>TCA429972438SCN2Ac.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=)
2g.165386941A=CA1304563810SCN2Ac.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=)
2g.165386941A>CCA349036712SCN2Ac.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)
2g.165386941A>GCA349036713SCN2Ac.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)
2g.165386941A>TCA349036715SCN2Ac.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
2g.165386942T>ACA349036718SCN2Ac.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)
2g.165386942T>CCA1940316SCN2Ac.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
2g.165386942T>GCA349036717SCN2Ac.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)
2g.165386942T=CA1304563811SCN2Ac.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=)
2g.165386943C>ACA429972440SCN2Ac.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=)
2g.165386943C>GCA349036720SCN2Ac.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)
2g.165386943C>TCA429972441SCN2Ac.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=)
2g.165386944T>ACA349036722SCN2Ac.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)
2g.165386944T>CCA349036723SCN2Ac.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)
2g.165386944T>GCA349036725SCN2Ac.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)
2g.165386945C>ACA349036727SCN2Ac.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)
2g.165386945C=CA1304563812SCN2Ac.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=)
2g.165386945C>GCA349036728SCN2Ac.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
2g.165386945C>TCA318006SCN2Ac.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
2g.165386946delCA2580064478SCN2Ac.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
2g.165386946T>ACA429972443SCN2Ac.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=)
2g.165386946T>CCA429972444SCN2Ac.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=)
2g.165386946T>GCA429972445SCN2Ac.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=)
2g.165386947C>ACA349036730SCN2Ac.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)
2g.165386947C=CA1304563813SCN2Ac.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=)
2g.165386947C>GCA349036732SCN2Ac.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)
2g.165386947C>TCA349036733SCN2Ac.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
2g.165386948T>ACA349036735SCN2Ac.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)
2g.165386948T>CCA349036736SCN2Ac.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)
2g.165386948T>GCA349036738SCN2Ac.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)
2g.165386949T>ACA429972448SCN2Ac.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=)
2g.165386949T>CCA429972449SCN2Ac.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
2g.165386949T>GCA429972450SCN2Ac.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
2g.165386950C>ACA349036741SCN2Ac.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)
2g.165386950C>GCA349036742SCN2Ac.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)
2g.165386950C>TCA349036739SCN2Ac.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
2g.165386951G>ACA349036743SCN2Ac.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
2g.165386951G>CCA349036744SCN2Ac.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)
2g.165386951G=CA1304563814SCN2Ac.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=)
2g.165386951G>TCA349036745SCN2Ac.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)
2g.165386952T>ACA429972454SCN2Ac.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=)
2g.165386952T>CCA429972455SCN2Ac.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
2g.165386952T>GCA429972456SCN2Ac.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
2g.165386952T=CA1304563815SCN2Ac.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=)
2g.165386953T>ACA349036747SCN2Ac.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)
2g.165386953T>CCA349036749SCN2Ac.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)
2g.165386953T>GCA349036750SCN2Ac.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)
2g.165386954A>CCA349036752SCN2Ac.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)
2g.165386954A>GCA349036753SCN2Ac.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)
2g.165386954A>TCA349036755SCN2Ac.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)
2g.165386955C>ACA349036756SCN2Ac.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)
2g.165386955C>GCA349036758SCN2Ac.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)
2g.165386955C>TCA429972459SCN2Ac.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
2g.165386956T>ACA349036760SCN2Ac.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)
2g.165386956T>CCA349036761SCN2Ac.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
2g.165386956T>GCA349036763SCN2Ac.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)
2g.165386956T=CA1304563816SCN2Ac.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=)
2g.165386957A>CCA349036767SCN2Ac.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)
2g.165386957A>GCA349036766SCN2Ac.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)
2g.165386957A>TCA349036764SCN2Ac.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)
2g.165386958C>ACA349036769SCN2Ac.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)
2g.165386958C>GCA349036771SCN2Ac.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)
2g.165386958C>TCA429972463SCN2Ac.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=)
2g.165386959T>ACA349036772SCN2Ac.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)
2g.165386959T>CCA349036773SCN2Ac.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)
2g.165386959T>GCA349036775SCN2Ac.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)
2g.165386960A=CA1304563817SCN2Ac.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=)
2g.165386960A>CCA349036777SCN2Ac.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)
2g.165386960A>GCA349036779SCN2Ac.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
2g.165386960A>TCA349036780SCN2Ac.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)
2g.165386961T>ACA349036782SCN2Ac.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)
2g.165386961T>CCA429972469SCN2Ac.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=)
2g.165386961T>GCA349036783SCN2Ac.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)
2g.165386962T>ACA349036785SCN2Ac.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)
2g.165386962T>CCA349036787SCN2Ac.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
2g.165386962T>GCA349036788SCN2Ac.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)
2g.165386963T>ACA349036790SCN2Ac.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)
2g.165386963T>CCA1940317SCN2Ac.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
2g.165386963T>GCA349036791SCN2Ac.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)
2g.165386963T=CA1304563818SCN2Ac.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=)
2g.165386964C>ACA349036793SCN2Ac.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)
2g.165386964C>GCA349036795SCN2Ac.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)
2g.165386964C>TCA429972474SCN2Ac.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=)
2g.165386965A>CCA349036796SCN2Ac.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)
2g.165386965A>GCA349036799SCN2Ac.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)
2g.165386965A>TCA349036798SCN2Ac.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)
2g.165386966C>ACA349036803SCN2Ac.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)
2g.165386966C=CA1304563819SCN2Ac.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=)
2g.165386966C>GCA349036805SCN2Ac.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
2g.165386966C>TCA349036804SCN2Ac.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)
2g.165386967T>ACA429972478SCN2Ac.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=)
2g.165386967T>CCA429972480SCN2Ac.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=)
2g.165386967T>GCA429972479SCN2Ac.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=)
2g.165386968A=CA1304563820SCN2Ac.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=)
2g.165386968A>CCA349036808SCN2Ac.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)
2g.165386968A>GCA349036811SCN2Ac.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
2g.165386968A>TCA349036809SCN2Ac.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)
2g.165386969T>ACA349036812SCN2Ac.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)
2g.165386969T>CCA1940318SCN2Ac.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
2g.165386969T>GCA349036815SCN2Ac.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)
2g.165386969T=CA1304563821SCN2Ac.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=)
2g.165386970T>ACA429972483SCN2Ac.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=)
2g.165386970T>CCA429972484SCN2Ac.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=)
2g.165386970T>GCA349036816SCN2Ac.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
2g.165386971G>ACA501168SCN2Ac.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
2g.165386971G>CCA349036819SCN2Ac.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)
2g.165386971G=CA1304563822SCN2Ac.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=)
2g.165386971G>TCA349036820SCN2Ac.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
2g.165386972G>ACA349036822SCN2Ac.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
2g.165386972G>CCA349036823SCN2Ac.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)
2g.165386972G>TCA349036825SCN2Ac.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
2g.165386973A>CCA429972487SCN2Ac.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=)
2g.165386973A>GCA429972489SCN2Ac.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=)
2g.165386973A>TCA429972488SCN2Ac.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
2g.165386974T>ACA349036828SCN2Ac.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)
2g.165386974T>CCA16042354SCN2Ac.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
2g.165386974T>GCA349036826SCN2Ac.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)
2g.165386974T=CA1304563823SCN2Ac.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=)
2g.165386975G>ACA349036829SCN2Ac.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
2g.165386975G>CCA349036830SCN2Ac.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)
2g.165386975G=CA1304563824SCN2Ac.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=)
2g.165386975G>TCA349036832SCN2Ac.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)
2g.165386976G>ACA349036834SCN2Ac.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
2g.165386976G>CCA16603919SCN2Ac.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
2g.165386976G=CA1304563825SCN2Ac.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=)
2g.165386976G>TCA349036836SCN2Ac.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)
2g.165386977A>CCA349036838SCN2Ac.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)
2g.165386977A>GCA349036839SCN2Ac.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)
2g.165386977A>TCA349036841SCN2Ac.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)
2g.165386978A>CCA349036842SCN2Ac.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)
2g.165386978A>GCA349036844SCN2Ac.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)
2g.165386978A>TCA349036845SCN2Ac.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)
2g.165386979T>ACA349036847SCN2Ac.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)
2g.165386979T>CCA429972497SCN2Ac.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=)
2g.165386979T>GCA349036849SCN2Ac.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)
2g.165386980A>CCA349036850SCN2Ac.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)
2g.165386980A>GCA349036852SCN2Ac.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)
2g.165386980A>TCA349036853SCN2Ac.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)
2g.165386981T>ACA349036855SCN2Ac.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)
2g.165386981T>CCA349036857SCN2Ac.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)
2g.165386981T>GCA349036859SCN2Ac.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
2g.165386982T>ACA429972501SCN2Ac.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=)
2g.165386982T>CCA429972499SCN2Ac.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=)
2g.165386982T>GCA349036860SCN2Ac.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)
2g.165386983T>ACA349036862SCN2Ac.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)
2g.165386983T>CCA349036863SCN2Ac.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
2g.165386983T>GCA349036865SCN2Ac.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)
2g.165386984T>ACA349036866SCN2Ac.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)
2g.165386984T>CCA349036869SCN2Ac.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)
2g.165386984T>GCA349036871SCN2Ac.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)
2g.165386985T>ACA349036873SCN2Ac.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
2g.165386985T>CCA429972505SCN2Ac.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=)
2g.165386985T>GCA349036874SCN2Ac.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)
2g.165386986G>ACA349036876SCN2Ac.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
2g.165386986G>CCA349036878SCN2Ac.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)
2g.165386986G>TCA349036879SCN2Ac.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
2g.165386987A>CCA349036880SCN2Ac.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)
2g.165386987A>GCA349036882SCN2Ac.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)
2g.165386987A>TCA349036884SCN2Ac.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)
2g.165386988T>ACA349036885SCN2Ac.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)
2g.165386988T>CCA429972507SCN2Ac.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=)
2g.165386988T>GCA349036887SCN2Ac.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)
2g.165386990_165386991delCA2586970193SCN2Ac.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)
2g.165386989T>ACA349036889SCN2Ac.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
2g.165386989T>CCA349036890SCN2Ac.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)
2g.165386989T>GCA349036892SCN2Ac.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)
2g.165386990T>ACA349036895SCN2Ac.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)
2g.165386990T>CCA349036897SCN2Ac.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)
2g.165386990T>GCA349036894SCN2Ac.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)
2g.165386991T>ACA349036900SCN2Ac.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)
2g.165386991T>CCA1940319SCN2Ac.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
2g.165386991T>GCA349036899SCN2Ac.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)
2g.165386991T=CA1304563826SCN2Ac.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=)
2g.165386992G>ACA349036901SCN2Ac.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)
2g.165386992G>CCA349036903SCN2Ac.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)
2g.165386992G>TCA349036905SCN2Ac.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)
2g.165386993T>ACA349036907SCN2Ac.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)
2g.165386993T>CCA349036909SCN2Ac.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)
2g.165386993T>GCA349036910SCN2Ac.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)
2g.165386994G>ACA429972516SCN2Ac.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
2g.165386994G>CCA429972517SCN2Ac.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
2g.165386994G=CA1304563827SCN2Ac.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=)
2g.165386994G>TCA429972519SCN2Ac.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
2g.165386995G>ACA349036912SCN2Ac.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
2g.165386995G>CCA349036914SCN2Ac.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)
2g.165386995G=CA1304563828SCN2Ac.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=)
2g.165386995G>TCA349036915SCN2Ac.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
2g.165386996T>ACA349036920SCN2Ac.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)
2g.165386996T>CCA349036918SCN2Ac.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
2g.165386996T>GCA349036917SCN2Ac.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)
2g.165386996T=CA1304563829SCN2Ac.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=)
2g.165386997G>ACA429972522SCN2Ac.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
2g.165386997G>CCA429972523SCN2Ac.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=)
2g.165386997G>TCA429972524SCN2Ac.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=)
2g.165386998G>ACA349036921SCN2Ac.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
2g.165386998G>CCA349036922SCN2Ac.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)
2g.165386998G=CA1304563830SCN2Ac.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=)
2g.165386998G>TCA349036923SCN2Ac.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)
2g.165386999T>ACA349036925SCN2Ac.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)
2g.165386999T>CCA349036927SCN2Ac.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)
2g.165386999T>GCA349036928SCN2Ac.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)
2g.165387000C>ACA429972527SCN2Ac.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
2g.165387000C>GCA429972528SCN2Ac.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=)
2g.165387000C>TCA429972529SCN2Ac.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=)
2g.165387001A>CCA349036930SCN2Ac.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)
2g.165387001A>GCA349036931SCN2Ac.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)
2g.165387001A>TCA349036933SCN2Ac.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)
2g.165387002T>ACA349036935SCN2Ac.4808T>A (p.Ile1603Asn)
c.*3127T>A (n.*3127T>A)
c.*2795T>A (n.*2795T>A)
c.*5331T>A (n.*5331T>A)
c.*2750T>A (n.*2750T>A)
c.4412T>A (p.Ile1471Asn)
n.8239T>A
c.4778T>A (p.Ile1593Asn)
c.4055T>A (p.Ile1352Asn)
c.2606T>A (p.Ile869Asn)
2g.165387002T>CCA349036936SCN2Ac.4808T>C (p.Ile1603Thr)
c.*3127T>C (n.*3127T>C)
c.*2795T>C (n.*2795T>C)
c.*5331T>C (n.*5331T>C)
c.*2750T>C (n.*2750T>C)
c.4412T>C (p.Ile1471Thr)
n.8239T>C
c.4778T>C (p.Ile1593Thr)
c.4055T>C (p.Ile1352Thr)
c.2606T>C (p.Ile869Thr)
2g.165387002T>GCA349036937SCN2Ac.4808T>G (p.Ile1603Ser)
c.*3127T>G (n.*3127T>G)
c.*2795T>G (n.*2795T>G)
c.*5331T>G (n.*5331T>G)
c.*2750T>G (n.*2750T>G)
c.4412T>G (p.Ile1471Ser)
n.8239T>G
c.4778T>G (p.Ile1593Ser)
c.4055T>G (p.Ile1352Ser)
c.2606T>G (p.Ile869Ser)
2g.165387003T>ACA429972538SCN2Ac.4809T>A (p.Ile1603=)
c.*3128T>A (n.*3128T>A)
c.*2796T>A (n.*2796T>A)
c.*5332T>A (n.*5332T>A)
c.*2751T>A (n.*2751T>A)
c.4413T>A (p.Ile1471=)
n.8240T>A
c.4779T>A (p.Ile1593=)
c.4056T>A (p.Ile1352=)
c.2607T>A (p.Ile869=)
2g.165387003T>CCA429972535SCN2Ac.4809T>C (p.Ile1603=)
c.*3128T>C (n.*3128T>C)
c.*2796T>C (n.*2796T>C)
c.*5332T>C (n.*5332T>C)
c.*2751T>C (n.*2751T>C)
c.4413T>C (p.Ile1471=)
n.8240T>C
c.4779T>C (p.Ile1593=)
c.4056T>C (p.Ile1352=)
c.2607T>C (p.Ile869=)
 dbSNP
2g.165387003T>GCA349036938SCN2Ac.4809T>G (p.Ile1603Met)
c.*3128T>G (n.*3128T>G)
c.*2796T>G (n.*2796T>G)
c.*5332T>G (n.*5332T>G)
c.*2751T>G (n.*2751T>G)
c.4413T>G (p.Ile1471Met)
n.8240T>G
c.4779T>G (p.Ile1593Met)
c.4056T>G (p.Ile1352Met)
c.2607T>G (p.Ile869Met)
2g.165387003T=CA1304563831SCN2Ac.4809T= (p.Ile1603=)
c.*3128T= (n.*3128T=)
c.*2796T= (n.*2796T=)
c.*5332T= (n.*5332T=)
c.*2751T= (n.*2751T=)
c.4413T= (p.Ile1471=)
n.8240T=
c.4779T= (p.Ile1593=)
c.4056T= (p.Ile1352=)
c.2607T= (p.Ile869=)
2g.165387004C>ACA349036942SCN2Ac.4810C>A (p.Leu1604Ile)
c.*3129C>A (n.*3129C>A)
c.*2797C>A (n.*2797C>A)
c.*5333C>A (n.*5333C>A)
c.*2752C>A (n.*2752C>A)
c.4414C>A (p.Leu1472Ile)
n.8241C>A
c.4780C>A (p.Leu1594Ile)
c.4057C>A (p.Leu1353Ile)
c.2608C>A (p.Leu870Ile)
2g.165387004C>GCA349036944SCN2Ac.4810C>G (p.Leu1604Val)
c.*3129C>G (n.*3129C>G)
c.*2797C>G (n.*2797C>G)
c.*5333C>G (n.*5333C>G)
c.*2752C>G (n.*2752C>G)
c.4414C>G (p.Leu1472Val)
n.8241C>G
c.4780C>G (p.Leu1594Val)
c.4057C>G (p.Leu1353Val)
c.2608C>G (p.Leu870Val)
2g.165387004C>TCA349036941SCN2Ac.4810C>T (p.Leu1604Phe)
c.*3129C>T (n.*3129C>T)
c.*2797C>T (n.*2797C>T)
c.*5333C>T (n.*5333C>T)
c.*2752C>T (n.*2752C>T)
c.4414C>T (p.Leu1472Phe)
n.8241C>T
c.4780C>T (p.Leu1594Phe)
c.4057C>T (p.Leu1353Phe)
c.2608C>T (p.Leu870Phe)

Number of alleles fetched