Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165380601C>ACA349033606SCN2Ac.4318C>A (p.Gln1440Lys)
c.*2637C>A (n.*2637C>A)
c.*2305C>A (n.*2305C>A)
c.*4841C>A (n.*4841C>A)
c.*2260C>A (n.*2260C>A)
c.3922C>A (p.Gln1308Lys)
n.7386C>A
c.4288C>A (p.Gln1430Lys)
c.3565C>A (p.Gln1189Lys)
c.2116C>A (p.Gln706Lys)
 gnomAD v4
2g.165380601C=CA1304561024SCN2Ac.4318C= (p.Gln1440=)
c.*2637C= (n.*2637C=)
c.*2305C= (n.*2305C=)
c.*4841C= (n.*4841C=)
c.*2260C= (n.*2260C=)
c.3922C= (p.Gln1308=)
n.7386C=
c.4288C= (p.Gln1430=)
c.3565C= (p.Gln1189=)
c.2116C= (p.Gln706=)
2g.165380601C>GCA349033608SCN2Ac.4318C>G (p.Gln1440Glu)
c.*2637C>G (n.*2637C>G)
c.*2305C>G (n.*2305C>G)
c.*4841C>G (n.*4841C>G)
c.*2260C>G (n.*2260C>G)
c.3922C>G (p.Gln1308Glu)
n.7386C>G
c.4288C>G (p.Gln1430Glu)
c.3565C>G (p.Gln1189Glu)
c.2116C>G (p.Gln706Glu)
2g.165380601C>TCA349033610SCN2Ac.4318C>T (p.Gln1440Ter)
c.*2637C>T (n.*2637C>T)
c.*2305C>T (n.*2305C>T)
c.*4841C>T (n.*4841C>T)
c.*2260C>T (n.*2260C>T)
c.3922C>T (p.Gln1308Ter)
n.7386C>T
c.4288C>T (p.Gln1430Ter)
c.3565C>T (p.Gln1189Ter)
c.2116C>T (p.Gln706Ter)
 dbSNP
2g.165380602A>CCA349033621SCN2Ac.4319A>C (p.Gln1440Pro)
c.*2638A>C (n.*2638A>C)
c.*2306A>C (n.*2306A>C)
c.*4842A>C (n.*4842A>C)
c.*2261A>C (n.*2261A>C)
c.3923A>C (p.Gln1308Pro)
n.7387A>C
c.4289A>C (p.Gln1430Pro)
c.3566A>C (p.Gln1189Pro)
c.2117A>C (p.Gln706Pro)
2g.165380602A>GCA349033615SCN2Ac.4319A>G (p.Gln1440Arg)
c.*2638A>G (n.*2638A>G)
c.*2306A>G (n.*2306A>G)
c.*4842A>G (n.*4842A>G)
c.*2261A>G (n.*2261A>G)
c.3923A>G (p.Gln1308Arg)
n.7387A>G
c.4289A>G (p.Gln1430Arg)
c.3566A>G (p.Gln1189Arg)
c.2117A>G (p.Gln706Arg)
 gnomAD v4
2g.165380602A>TCA349033612SCN2Ac.4319A>T (p.Gln1440Leu)
c.*2638A>T (n.*2638A>T)
c.*2306A>T (n.*2306A>T)
c.*4842A>T (n.*4842A>T)
c.*2261A>T (n.*2261A>T)
c.3923A>T (p.Gln1308Leu)
n.7387A>T
c.4289A>T (p.Gln1430Leu)
c.3566A>T (p.Gln1189Leu)
c.2117A>T (p.Gln706Leu)
2g.165380603A>CCA349033625SCN2Ac.4320A>C (p.Gln1440His)
c.*2639A>C (n.*2639A>C)
c.*2307A>C (n.*2307A>C)
c.*4843A>C (n.*4843A>C)
c.*2262A>C (n.*2262A>C)
c.3924A>C (p.Gln1308His)
n.7388A>C
c.4290A>C (p.Gln1430His)
c.3567A>C (p.Gln1189His)
c.2118A>C (p.Gln706His)
2g.165380603A>GCA429888128SCN2Ac.4320A>G (p.Gln1440=)
c.*2639A>G (n.*2639A>G)
c.*2307A>G (n.*2307A>G)
c.*4843A>G (n.*4843A>G)
c.*2262A>G (n.*2262A>G)
c.3924A>G (p.Gln1308=)
n.7388A>G
c.4290A>G (p.Gln1430=)
c.3567A>G (p.Gln1189=)
c.2118A>G (p.Gln706=)
 ClinVar
2g.165380603A>TCA349033623SCN2Ac.4320A>T (p.Gln1440His)
c.*2639A>T (n.*2639A>T)
c.*2307A>T (n.*2307A>T)
c.*4843A>T (n.*4843A>T)
c.*2262A>T (n.*2262A>T)
c.3924A>T (p.Gln1308His)
n.7388A>T
c.4290A>T (p.Gln1430His)
c.3567A>T (p.Gln1189His)
c.2118A>T (p.Gln706His)
2g.165380604C>ACA349033630SCN2Ac.4321C>A (p.Pro1441Thr)
c.*2640C>A (n.*2640C>A)
c.*2308C>A (n.*2308C>A)
c.*4844C>A (n.*4844C>A)
c.*2263C>A (n.*2263C>A)
c.3925C>A (p.Pro1309Thr)
n.7389C>A
c.4291C>A (p.Pro1431Thr)
c.3568C>A (p.Pro1190Thr)
c.2119C>A (p.Pro707Thr)
 gnomAD v4
2g.165380604C=CA1304561025SCN2Ac.4321C= (p.Pro1441=)
c.*2640C= (n.*2640C=)
c.*2308C= (n.*2308C=)
c.*4844C= (n.*4844C=)
c.*2263C= (n.*2263C=)
c.3925C= (p.Pro1309=)
n.7389C=
c.4291C= (p.Pro1431=)
c.3568C= (p.Pro1190=)
c.2119C= (p.Pro707=)
2g.165380604C>GCA349033627SCN2Ac.4321C>G (p.Pro1441Ala)
c.*2640C>G (n.*2640C>G)
c.*2308C>G (n.*2308C>G)
c.*4844C>G (n.*4844C>G)
c.*2263C>G (n.*2263C>G)
c.3925C>G (p.Pro1309Ala)
n.7389C>G
c.4291C>G (p.Pro1431Ala)
c.3568C>G (p.Pro1190Ala)
c.2119C>G (p.Pro707Ala)
2g.165380604C>TCA317970SCN2Ac.4321C>T (p.Pro1441Ser)
c.*2640C>T (n.*2640C>T)
c.*2308C>T (n.*2308C>T)
c.*4844C>T (n.*4844C>T)
c.*2263C>T (n.*2263C>T)
c.3925C>T (p.Pro1309Ser)
n.7389C>T
c.4291C>T (p.Pro1431Ser)
c.3568C>T (p.Pro1190Ser)
c.2119C>T (p.Pro707Ser)
 ClinVar dbSNP
2g.165380605C>ACA349033633SCN2Ac.4322C>A (p.Pro1441His)
c.*2641C>A (n.*2641C>A)
c.*2309C>A (n.*2309C>A)
c.*4845C>A (n.*4845C>A)
c.*2264C>A (n.*2264C>A)
c.3926C>A (p.Pro1309His)
n.7390C>A
c.4292C>A (p.Pro1431His)
c.3569C>A (p.Pro1190His)
c.2120C>A (p.Pro707His)
 gnomAD v4
2g.165380605C>GCA349033634SCN2Ac.4322C>G (p.Pro1441Arg)
c.*2641C>G (n.*2641C>G)
c.*2309C>G (n.*2309C>G)
c.*4845C>G (n.*4845C>G)
c.*2264C>G (n.*2264C>G)
c.3926C>G (p.Pro1309Arg)
n.7390C>G
c.4292C>G (p.Pro1431Arg)
c.3569C>G (p.Pro1190Arg)
c.2120C>G (p.Pro707Arg)
 ClinVar
2g.165380605C>TCA349033635SCN2Ac.4322C>T (p.Pro1441Leu)
c.*2641C>T (n.*2641C>T)
c.*2309C>T (n.*2309C>T)
c.*4845C>T (n.*4845C>T)
c.*2264C>T (n.*2264C>T)
c.3926C>T (p.Pro1309Leu)
n.7390C>T
c.4292C>T (p.Pro1431Leu)
c.3569C>T (p.Pro1190Leu)
c.2120C>T (p.Pro707Leu)
 COSMIC COSMIC
2g.165380606C>ACA429888129SCN2Ac.4323C>A (p.Pro1441=)
c.*2642C>A (n.*2642C>A)
c.*2310C>A (n.*2310C>A)
c.*4846C>A (n.*4846C>A)
c.*2265C>A (n.*2265C>A)
c.3927C>A (p.Pro1309=)
n.7391C>A
c.4293C>A (p.Pro1431=)
c.3570C>A (p.Pro1190=)
c.2121C>A (p.Pro707=)
2g.165380606C=CA1304561026SCN2Ac.4323C= (p.Pro1441=)
c.*2642C= (n.*2642C=)
c.*2310C= (n.*2310C=)
c.*4846C= (n.*4846C=)
c.*2265C= (n.*2265C=)
c.3927C= (p.Pro1309=)
n.7391C=
c.4293C= (p.Pro1431=)
c.3570C= (p.Pro1190=)
c.2121C= (p.Pro707=)
2g.165380606C>GCA429888130SCN2Ac.4323C>G (p.Pro1441=)
c.*2642C>G (n.*2642C>G)
c.*2310C>G (n.*2310C>G)
c.*4846C>G (n.*4846C>G)
c.*2265C>G (n.*2265C>G)
c.3927C>G (p.Pro1309=)
n.7391C>G
c.4293C>G (p.Pro1431=)
c.3570C>G (p.Pro1190=)
c.2121C>G (p.Pro707=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165380606C>TCA429888131SCN2Ac.4323C>T (p.Pro1441=)
c.*2642C>T (n.*2642C>T)
c.*2310C>T (n.*2310C>T)
c.*4846C>T (n.*4846C>T)
c.*2265C>T (n.*2265C>T)
c.3927C>T (p.Pro1309=)
n.7391C>T
c.4293C>T (p.Pro1431=)
c.3570C>T (p.Pro1190=)
c.2121C>T (p.Pro707=)
2g.165380607A=CA1304561027SCN2Ac.4324A= (p.Lys1442=)
c.*2643A= (n.*2643A=)
c.*2311A= (n.*2311A=)
c.*4847A= (n.*4847A=)
c.*2266A= (n.*2266A=)
c.3928A= (p.Lys1310=)
n.7392A=
c.4294A= (p.Lys1432=)
c.3571A= (p.Lys1191=)
c.2122A= (p.Lys708=)
2g.165380607A>CCA349033637SCN2Ac.4324A>C (p.Lys1442Gln)
c.*2643A>C (n.*2643A>C)
c.*2311A>C (n.*2311A>C)
c.*4847A>C (n.*4847A>C)
c.*2266A>C (n.*2266A>C)
c.3928A>C (p.Lys1310Gln)
n.7392A>C
c.4294A>C (p.Lys1432Gln)
c.3571A>C (p.Lys1191Gln)
c.2122A>C (p.Lys708Gln)
 gnomAD v4
2g.165380607A>GCA349033639SCN2Ac.4324A>G (p.Lys1442Glu)
c.*2643A>G (n.*2643A>G)
c.*2311A>G (n.*2311A>G)
c.*4847A>G (n.*4847A>G)
c.*2266A>G (n.*2266A>G)
c.3928A>G (p.Lys1310Glu)
n.7392A>G
c.4294A>G (p.Lys1432Glu)
c.3571A>G (p.Lys1191Glu)
c.2122A>G (p.Lys708Glu)
 gnomAD v4
2g.165380607A>TCA349033641SCN2Ac.4324A>T (p.Lys1442Ter)
c.*2643A>T (n.*2643A>T)
c.*2311A>T (n.*2311A>T)
c.*4847A>T (n.*4847A>T)
c.*2266A>T (n.*2266A>T)
c.3928A>T (p.Lys1310Ter)
n.7392A>T
c.4294A>T (p.Lys1432Ter)
c.3571A>T (p.Lys1191Ter)
c.2122A>T (p.Lys708Ter)
 dbSNP gnomAD v4
2g.165380608A>CCA349033644SCN2Ac.4325A>C (p.Lys1442Thr)
c.*2644A>C (n.*2644A>C)
c.*2312A>C (n.*2312A>C)
c.*4848A>C (n.*4848A>C)
c.*2267A>C (n.*2267A>C)
c.3929A>C (p.Lys1310Thr)
n.7393A>C
c.4295A>C (p.Lys1432Thr)
c.3572A>C (p.Lys1191Thr)
c.2123A>C (p.Lys708Thr)
2g.165380608A>GCA349033646SCN2Ac.4325A>G (p.Lys1442Arg)
c.*2644A>G (n.*2644A>G)
c.*2312A>G (n.*2312A>G)
c.*4848A>G (n.*4848A>G)
c.*2267A>G (n.*2267A>G)
c.3929A>G (p.Lys1310Arg)
n.7393A>G
c.4295A>G (p.Lys1432Arg)
c.3572A>G (p.Lys1191Arg)
c.2123A>G (p.Lys708Arg)
2g.165380608A>TCA349033648SCN2Ac.4325A>T (p.Lys1442Met)
c.*2644A>T (n.*2644A>T)
c.*2312A>T (n.*2312A>T)
c.*4848A>T (n.*4848A>T)
c.*2267A>T (n.*2267A>T)
c.3929A>T (p.Lys1310Met)
n.7393A>T
c.4295A>T (p.Lys1432Met)
c.3572A>T (p.Lys1191Met)
c.2123A>T (p.Lys708Met)
2g.165380609G>ACA429888132SCN2Ac.4326G>A (p.Lys1442=)
c.*2645G>A (n.*2645G>A)
c.*2313G>A (n.*2313G>A)
c.*4849G>A (n.*4849G>A)
c.*2268G>A (n.*2268G>A)
c.3930G>A (p.Lys1310=)
n.7394G>A
c.4296G>A (p.Lys1432=)
c.3573G>A (p.Lys1191=)
c.2124G>A (p.Lys708=)
2g.165380609G>CCA349033653SCN2Ac.4326G>C (p.Lys1442Asn)
c.*2645G>C (n.*2645G>C)
c.*2313G>C (n.*2313G>C)
c.*4849G>C (n.*4849G>C)
c.*2268G>C (n.*2268G>C)
c.3930G>C (p.Lys1310Asn)
n.7394G>C
c.4296G>C (p.Lys1432Asn)
c.3573G>C (p.Lys1191Asn)
c.2124G>C (p.Lys708Asn)
2g.165380609G>TCA349033651SCN2Ac.4326G>T (p.Lys1442Asn)
c.*2645G>T (n.*2645G>T)
c.*2313G>T (n.*2313G>T)
c.*4849G>T (n.*4849G>T)
c.*2268G>T (n.*2268G>T)
c.3930G>T (p.Lys1310Asn)
n.7394G>T
c.4296G>T (p.Lys1432Asn)
c.3573G>T (p.Lys1191Asn)
c.2124G>T (p.Lys708Asn)
2g.165380610T>ACA349033658SCN2Ac.4327T>A (p.Tyr1443Asn)
c.*2646T>A (n.*2646T>A)
c.*2314T>A (n.*2314T>A)
c.*4850T>A (n.*4850T>A)
c.*2269T>A (n.*2269T>A)
c.3931T>A (p.Tyr1311Asn)
n.7395T>A
c.4297T>A (p.Tyr1433Asn)
c.3574T>A (p.Tyr1192Asn)
c.2125T>A (p.Tyr709Asn)
2g.165380610T>CCA349033659SCN2Ac.4327T>C (p.Tyr1443His)
c.*2646T>C (n.*2646T>C)
c.*2314T>C (n.*2314T>C)
c.*4850T>C (n.*4850T>C)
c.*2269T>C (n.*2269T>C)
c.3931T>C (p.Tyr1311His)
n.7395T>C
c.4297T>C (p.Tyr1433His)
c.3574T>C (p.Tyr1192His)
c.2125T>C (p.Tyr709His)
 ClinVar
2g.165380610T>GCA349033661SCN2Ac.4327T>G (p.Tyr1443Asp)
c.*2646T>G (n.*2646T>G)
c.*2314T>G (n.*2314T>G)
c.*4850T>G (n.*4850T>G)
c.*2269T>G (n.*2269T>G)
c.3931T>G (p.Tyr1311Asp)
n.7395T>G
c.4297T>G (p.Tyr1433Asp)
c.3574T>G (p.Tyr1192Asp)
c.2125T>G (p.Tyr709Asp)
2g.165380611A>CCA349033664SCN2Ac.4328A>C (p.Tyr1443Ser)
c.*2647A>C (n.*2647A>C)
c.*2315A>C (n.*2315A>C)
c.*4851A>C (n.*4851A>C)
c.*2270A>C (n.*2270A>C)
c.3932A>C (p.Tyr1311Ser)
n.7396A>C
c.4298A>C (p.Tyr1433Ser)
c.3575A>C (p.Tyr1192Ser)
c.2126A>C (p.Tyr709Ser)
2g.165380611A>GCA349033666SCN2Ac.4328A>G (p.Tyr1443Cys)
c.*2647A>G (n.*2647A>G)
c.*2315A>G (n.*2315A>G)
c.*4851A>G (n.*4851A>G)
c.*2270A>G (n.*2270A>G)
c.3932A>G (p.Tyr1311Cys)
n.7396A>G
c.4298A>G (p.Tyr1433Cys)
c.3575A>G (p.Tyr1192Cys)
c.2126A>G (p.Tyr709Cys)
 gnomAD v4
2g.165380611A>TCA349033668SCN2Ac.4328A>T (p.Tyr1443Phe)
c.*2647A>T (n.*2647A>T)
c.*2315A>T (n.*2315A>T)
c.*4851A>T (n.*4851A>T)
c.*2270A>T (n.*2270A>T)
c.3932A>T (p.Tyr1311Phe)
n.7396A>T
c.4298A>T (p.Tyr1433Phe)
c.3575A>T (p.Tyr1192Phe)
c.2126A>T (p.Tyr709Phe)
2g.165380612T>ACA349033669SCN2Ac.4329T>A (p.Tyr1443Ter)
c.*2648T>A (n.*2648T>A)
c.*2316T>A (n.*2316T>A)
c.*4852T>A (n.*4852T>A)
c.*2271T>A (n.*2271T>A)
c.3933T>A (p.Tyr1311Ter)
n.7397T>A
c.4299T>A (p.Tyr1433Ter)
c.3576T>A (p.Tyr1192Ter)
c.2127T>A (p.Tyr709Ter)
2g.165380612T>CCA429888133SCN2Ac.4329T>C (p.Tyr1443=)
c.*2648T>C (n.*2648T>C)
c.*2316T>C (n.*2316T>C)
c.*4852T>C (n.*4852T>C)
c.*2271T>C (n.*2271T>C)
c.3933T>C (p.Tyr1311=)
n.7397T>C
c.4299T>C (p.Tyr1433=)
c.3576T>C (p.Tyr1192=)
c.2127T>C (p.Tyr709=)
 ClinVar dbSNP
2g.165380612T>GCA349033678SCN2Ac.4329T>G (p.Tyr1443Ter)
c.*2648T>G (n.*2648T>G)
c.*2316T>G (n.*2316T>G)
c.*4852T>G (n.*4852T>G)
c.*2271T>G (n.*2271T>G)
c.3933T>G (p.Tyr1311Ter)
n.7397T>G
c.4299T>G (p.Tyr1433Ter)
c.3576T>G (p.Tyr1192Ter)
c.2127T>G (p.Tyr709Ter)
2g.165380613G>ACA349033682SCN2Ac.4330G>A (p.Glu1444Lys)
c.*2649G>A (n.*2649G>A)
c.*2317G>A (n.*2317G>A)
c.*4853G>A (n.*4853G>A)
c.*2272G>A (n.*2272G>A)
c.3934G>A (p.Glu1312Lys)
n.7398G>A
c.4300G>A (p.Glu1434Lys)
c.3577G>A (p.Glu1193Lys)
c.2128G>A (p.Glu710Lys)
2g.165380613G>CCA349033683SCN2Ac.4330G>C (p.Glu1444Gln)
c.*2649G>C (n.*2649G>C)
c.*2317G>C (n.*2317G>C)
c.*4853G>C (n.*4853G>C)
c.*2272G>C (n.*2272G>C)
c.3934G>C (p.Glu1312Gln)
n.7398G>C
c.4300G>C (p.Glu1434Gln)
c.3577G>C (p.Glu1193Gln)
c.2128G>C (p.Glu710Gln)
2g.165380613G=CA1304561028SCN2Ac.4330G= (p.Glu1444=)
c.*2649G= (n.*2649G=)
c.*2317G= (n.*2317G=)
c.*4853G= (n.*4853G=)
c.*2272G= (n.*2272G=)
c.3934G= (p.Glu1312=)
n.7398G=
c.4300G= (p.Glu1434=)
c.3577G= (p.Glu1193=)
c.2128G= (p.Glu710=)
2g.165380613G>TCA349033685SCN2Ac.4330G>T (p.Glu1444Ter)
c.*2649G>T (n.*2649G>T)
c.*2317G>T (n.*2317G>T)
c.*4853G>T (n.*4853G>T)
c.*2272G>T (n.*2272G>T)
c.3934G>T (p.Glu1312Ter)
n.7398G>T
c.4300G>T (p.Glu1434Ter)
c.3577G>T (p.Glu1193Ter)
c.2128G>T (p.Glu710Ter)
 dbSNP
2g.165380614A>CCA349033693SCN2Ac.4331A>C (p.Glu1444Ala)
c.*2650A>C (n.*2650A>C)
c.*2318A>C (n.*2318A>C)
c.*4854A>C (n.*4854A>C)
c.*2273A>C (n.*2273A>C)
c.3935A>C (p.Glu1312Ala)
n.7399A>C
c.4301A>C (p.Glu1434Ala)
c.3578A>C (p.Glu1193Ala)
c.2129A>C (p.Glu710Ala)
2g.165380614A>GCA349033689SCN2Ac.4331A>G (p.Glu1444Gly)
c.*2650A>G (n.*2650A>G)
c.*2318A>G (n.*2318A>G)
c.*4854A>G (n.*4854A>G)
c.*2273A>G (n.*2273A>G)
c.3935A>G (p.Glu1312Gly)
n.7399A>G
c.4301A>G (p.Glu1434Gly)
c.3578A>G (p.Glu1193Gly)
c.2129A>G (p.Glu710Gly)
2g.165380614A>TCA349033688SCN2Ac.4331A>T (p.Glu1444Val)
c.*2650A>T (n.*2650A>T)
c.*2318A>T (n.*2318A>T)
c.*4854A>T (n.*4854A>T)
c.*2273A>T (n.*2273A>T)
c.3935A>T (p.Glu1312Val)
n.7399A>T
c.4301A>T (p.Glu1434Val)
c.3578A>T (p.Glu1193Val)
c.2129A>T (p.Glu710Val)
2g.165380615A>CCA349033696SCN2Ac.4332A>C (p.Glu1444Asp)
c.*2651A>C (n.*2651A>C)
c.*2319A>C (n.*2319A>C)
c.*4855A>C (n.*4855A>C)
c.*2274A>C (n.*2274A>C)
c.3936A>C (p.Glu1312Asp)
n.7400A>C
c.4302A>C (p.Glu1434Asp)
c.3579A>C (p.Glu1193Asp)
c.2130A>C (p.Glu710Asp)
2g.165380615A>GCA429888134SCN2Ac.4332A>G (p.Glu1444=)
c.*2651A>G (n.*2651A>G)
c.*2319A>G (n.*2319A>G)
c.*4855A>G (n.*4855A>G)
c.*2274A>G (n.*2274A>G)
c.3936A>G (p.Glu1312=)
n.7400A>G
c.4302A>G (p.Glu1434=)
c.3579A>G (p.Glu1193=)
c.2130A>G (p.Glu710=)
2g.165380615A>TCA349033698SCN2Ac.4332A>T (p.Glu1444Asp)
c.*2651A>T (n.*2651A>T)
c.*2319A>T (n.*2319A>T)
c.*4855A>T (n.*4855A>T)
c.*2274A>T (n.*2274A>T)
c.3936A>T (p.Glu1312Asp)
n.7400A>T
c.4302A>T (p.Glu1434Asp)
c.3579A>T (p.Glu1193Asp)
c.2130A>T (p.Glu710Asp)
2g.165380616G>ACA349033704SCN2Ac.4333G>A (p.Asp1445Asn)
c.*2652G>A (n.*2652G>A)
c.*2320G>A (n.*2320G>A)
c.*4856G>A (n.*4856G>A)
c.*2275G>A (n.*2275G>A)
c.3937G>A (p.Asp1313Asn)
n.7401G>A
c.4303G>A (p.Asp1435Asn)
c.3580G>A (p.Asp1194Asn)
c.2131G>A (p.Asp711Asn)
2g.165380616G>CCA349033708SCN2Ac.4333G>C (p.Asp1445His)
c.*2652G>C (n.*2652G>C)
c.*2320G>C (n.*2320G>C)
c.*4856G>C (n.*4856G>C)
c.*2275G>C (n.*2275G>C)
c.3937G>C (p.Asp1313His)
n.7401G>C
c.4303G>C (p.Asp1435His)
c.3580G>C (p.Asp1194His)
c.2131G>C (p.Asp711His)
2g.165380616G>TCA349033709SCN2Ac.4333G>T (p.Asp1445Tyr)
c.*2652G>T (n.*2652G>T)
c.*2320G>T (n.*2320G>T)
c.*4856G>T (n.*4856G>T)
c.*2275G>T (n.*2275G>T)
c.3937G>T (p.Asp1313Tyr)
n.7401G>T
c.4303G>T (p.Asp1435Tyr)
c.3580G>T (p.Asp1194Tyr)
c.2131G>T (p.Asp711Tyr)
2g.165380617A=CA1304561029SCN2Ac.4334A= (p.Asp1445=)
c.*2653A= (n.*2653A=)
c.*2321A= (n.*2321A=)
c.*4857A= (n.*4857A=)
c.*2276A= (n.*2276A=)
c.3938A= (p.Asp1313=)
n.7402A=
c.4304A= (p.Asp1435=)
c.3581A= (p.Asp1194=)
c.2132A= (p.Asp711=)
2g.165380617A>CCA349033713SCN2Ac.4334A>C (p.Asp1445Ala)
c.*2653A>C (n.*2653A>C)
c.*2321A>C (n.*2321A>C)
c.*4857A>C (n.*4857A>C)
c.*2276A>C (n.*2276A>C)
c.3938A>C (p.Asp1313Ala)
n.7402A>C
c.4304A>C (p.Asp1435Ala)
c.3581A>C (p.Asp1194Ala)
c.2132A>C (p.Asp711Ala)
2g.165380617A>GCA1940267SCN2Ac.4334A>G (p.Asp1445Gly)
c.*2653A>G (n.*2653A>G)
c.*2321A>G (n.*2321A>G)
c.*4857A>G (n.*4857A>G)
c.*2276A>G (n.*2276A>G)
c.3938A>G (p.Asp1313Gly)
n.7402A>G
c.4304A>G (p.Asp1435Gly)
c.3581A>G (p.Asp1194Gly)
c.2132A>G (p.Asp711Gly)
 dbSNP ExAC gnomAD v2
2g.165380617A>TCA349033717SCN2Ac.4334A>T (p.Asp1445Val)
c.*2653A>T (n.*2653A>T)
c.*2321A>T (n.*2321A>T)
c.*4857A>T (n.*4857A>T)
c.*2276A>T (n.*2276A>T)
c.3938A>T (p.Asp1313Val)
n.7402A>T
c.4304A>T (p.Asp1435Val)
c.3581A>T (p.Asp1194Val)
c.2132A>T (p.Asp711Val)
2g.165380618C>ACA349033720SCN2Ac.4335C>A (p.Asp1445Glu)
c.*2654C>A (n.*2654C>A)
c.*2322C>A (n.*2322C>A)
c.*4858C>A (n.*4858C>A)
c.*2277C>A (n.*2277C>A)
c.3939C>A (p.Asp1313Glu)
n.7403C>A
c.4305C>A (p.Asp1435Glu)
c.3582C>A (p.Asp1194Glu)
c.2133C>A (p.Asp711Glu)
 gnomAD v4
2g.165380618C>GCA349033721SCN2Ac.4335C>G (p.Asp1445Glu)
c.*2654C>G (n.*2654C>G)
c.*2322C>G (n.*2322C>G)
c.*4858C>G (n.*4858C>G)
c.*2277C>G (n.*2277C>G)
c.3939C>G (p.Asp1313Glu)
n.7403C>G
c.4305C>G (p.Asp1435Glu)
c.3582C>G (p.Asp1194Glu)
c.2133C>G (p.Asp711Glu)
2g.165380618C>TCA429888135SCN2Ac.4335C>T (p.Asp1445=)
c.*2654C>T (n.*2654C>T)
c.*2322C>T (n.*2322C>T)
c.*4858C>T (n.*4858C>T)
c.*2277C>T (n.*2277C>T)
c.3939C>T (p.Asp1313=)
n.7403C>T
c.4305C>T (p.Asp1435=)
c.3582C>T (p.Asp1194=)
c.2133C>T (p.Asp711=)
 dbSNP gnomAD v3 gnomAD v4
2g.165380619A>CCA349033724SCN2Ac.4336A>C (p.Asn1446His)
c.*2655A>C (n.*2655A>C)
c.*2323A>C (n.*2323A>C)
c.*4859A>C (n.*4859A>C)
c.*2278A>C (n.*2278A>C)
c.3940A>C (p.Asn1314His)
n.7404A>C
c.4306A>C (p.Asn1436His)
c.3583A>C (p.Asn1195His)
c.2134A>C (p.Asn712His)
2g.165380619A>GCA349033725SCN2Ac.4336A>G (p.Asn1446Asp)
c.*2655A>G (n.*2655A>G)
c.*2323A>G (n.*2323A>G)
c.*4859A>G (n.*4859A>G)
c.*2278A>G (n.*2278A>G)
c.3940A>G (p.Asn1314Asp)
n.7404A>G
c.4306A>G (p.Asn1436Asp)
c.3583A>G (p.Asn1195Asp)
c.2134A>G (p.Asn712Asp)
2g.165380619A>TCA349033726SCN2Ac.4336A>T (p.Asn1446Tyr)
c.*2655A>T (n.*2655A>T)
c.*2323A>T (n.*2323A>T)
c.*4859A>T (n.*4859A>T)
c.*2278A>T (n.*2278A>T)
c.3940A>T (p.Asn1314Tyr)
n.7404A>T
c.4306A>T (p.Asn1436Tyr)
c.3583A>T (p.Asn1195Tyr)
c.2134A>T (p.Asn712Tyr)
2g.165380620A=CA1304561030SCN2Ac.4337A= (p.Asn1446=)
c.*2656A= (n.*2656A=)
c.*2324A= (n.*2324A=)
c.*4860A= (n.*4860A=)
c.*2279A= (n.*2279A=)
c.3941A= (p.Asn1314=)
n.7405A=
c.4307A= (p.Asn1436=)
c.3584A= (p.Asn1195=)
c.2135A= (p.Asn712=)
2g.165380620A>CCA349033728SCN2Ac.4337A>C (p.Asn1446Thr)
c.*2656A>C (n.*2656A>C)
c.*2324A>C (n.*2324A>C)
c.*4860A>C (n.*4860A>C)
c.*2279A>C (n.*2279A>C)
c.3941A>C (p.Asn1314Thr)
n.7405A>C
c.4307A>C (p.Asn1436Thr)
c.3584A>C (p.Asn1195Thr)
c.2135A>C (p.Asn712Thr)
2g.165380620A>GCA1940268SCN2Ac.4337A>G (p.Asn1446Ser)
c.*2656A>G (n.*2656A>G)
c.*2324A>G (n.*2324A>G)
c.*4860A>G (n.*4860A>G)
c.*2279A>G (n.*2279A>G)
c.3941A>G (p.Asn1314Ser)
n.7405A>G
c.4307A>G (p.Asn1436Ser)
c.3584A>G (p.Asn1195Ser)
c.2135A>G (p.Asn712Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.165380620A>TCA349033729SCN2Ac.4337A>T (p.Asn1446Ile)
c.*2656A>T (n.*2656A>T)
c.*2324A>T (n.*2324A>T)
c.*4860A>T (n.*4860A>T)
c.*2279A>T (n.*2279A>T)
c.3941A>T (p.Asn1314Ile)
n.7405A>T
c.4307A>T (p.Asn1436Ile)
c.3584A>T (p.Asn1195Ile)
c.2135A>T (p.Asn712Ile)
2g.165380621C>ACA349033730SCN2Ac.4338C>A (p.Asn1446Lys)
c.*2657C>A (n.*2657C>A)
c.*2325C>A (n.*2325C>A)
c.*4861C>A (n.*4861C>A)
c.*2280C>A (n.*2280C>A)
c.3942C>A (p.Asn1314Lys)
n.7406C>A
c.4308C>A (p.Asn1436Lys)
c.3585C>A (p.Asn1195Lys)
c.2136C>A (p.Asn712Lys)
 gnomAD v4
2g.165380621C>GCA349033731SCN2Ac.4338C>G (p.Asn1446Lys)
c.*2657C>G (n.*2657C>G)
c.*2325C>G (n.*2325C>G)
c.*4861C>G (n.*4861C>G)
c.*2280C>G (n.*2280C>G)
c.3942C>G (p.Asn1314Lys)
n.7406C>G
c.4308C>G (p.Asn1436Lys)
c.3585C>G (p.Asn1195Lys)
c.2136C>G (p.Asn712Lys)
2g.165380621C>TCA429888136SCN2Ac.4338C>T (p.Asn1446=)
c.*2657C>T (n.*2657C>T)
c.*2325C>T (n.*2325C>T)
c.*4861C>T (n.*4861C>T)
c.*2280C>T (n.*2280C>T)
c.3942C>T (p.Asn1314=)
n.7406C>T
c.4308C>T (p.Asn1436=)
c.3585C>T (p.Asn1195=)
c.2136C>T (p.Asn712=)
2g.165380622C>ACA349033733SCN2Ac.4339C>A (p.Leu1447Met)
c.*2658C>A (n.*2658C>A)
c.*2326C>A (n.*2326C>A)
c.*4862C>A (n.*4862C>A)
c.*2281C>A (n.*2281C>A)
c.3943C>A (p.Leu1315Met)
n.7407C>A
c.4309C>A (p.Leu1437Met)
c.3586C>A (p.Leu1196Met)
c.2137C>A (p.Leu713Met)
2g.165380622C>GCA349033734SCN2Ac.4339C>G (p.Leu1447Val)
c.*2658C>G (n.*2658C>G)
c.*2326C>G (n.*2326C>G)
c.*4862C>G (n.*4862C>G)
c.*2281C>G (n.*2281C>G)
c.3943C>G (p.Leu1315Val)
n.7407C>G
c.4309C>G (p.Leu1437Val)
c.3586C>G (p.Leu1196Val)
c.2137C>G (p.Leu713Val)
2g.165380622C>TCA429888137SCN2Ac.4339C>T (p.Leu1447=)
c.*2658C>T (n.*2658C>T)
c.*2326C>T (n.*2326C>T)
c.*4862C>T (n.*4862C>T)
c.*2281C>T (n.*2281C>T)
c.3943C>T (p.Leu1315=)
n.7407C>T
c.4309C>T (p.Leu1437=)
c.3586C>T (p.Leu1196=)
c.2137C>T (p.Leu713=)
2g.165380623T>ACA349033735SCN2Ac.4340T>A (p.Leu1447Gln)
c.*2659T>A (n.*2659T>A)
c.*2327T>A (n.*2327T>A)
c.*4863T>A (n.*4863T>A)
c.*2282T>A (n.*2282T>A)
c.3944T>A (p.Leu1315Gln)
n.7408T>A
c.4310T>A (p.Leu1437Gln)
c.3587T>A (p.Leu1196Gln)
c.2138T>A (p.Leu713Gln)
2g.165380623T>CCA349033736SCN2Ac.4340T>C (p.Leu1447Pro)
c.*2659T>C (n.*2659T>C)
c.*2327T>C (n.*2327T>C)
c.*4863T>C (n.*4863T>C)
c.*2282T>C (n.*2282T>C)
c.3944T>C (p.Leu1315Pro)
n.7408T>C
c.4310T>C (p.Leu1437Pro)
c.3587T>C (p.Leu1196Pro)
c.2138T>C (p.Leu713Pro)
2g.165380623T>GCA349033739SCN2Ac.4340T>G (p.Leu1447Arg)
c.*2659T>G (n.*2659T>G)
c.*2327T>G (n.*2327T>G)
c.*4863T>G (n.*4863T>G)
c.*2282T>G (n.*2282T>G)
c.3944T>G (p.Leu1315Arg)
n.7408T>G
c.4310T>G (p.Leu1437Arg)
c.3587T>G (p.Leu1196Arg)
c.2138T>G (p.Leu713Arg)
2g.165380624G>ACA429888139SCN2Ac.4341G>A (p.Leu1447=)
c.*2660G>A (n.*2660G>A)
c.*2328G>A (n.*2328G>A)
c.*4864G>A (n.*4864G>A)
c.*2283G>A (n.*2283G>A)
c.3945G>A (p.Leu1315=)
n.7409G>A
c.4311G>A (p.Leu1437=)
c.3588G>A (p.Leu1196=)
c.2139G>A (p.Leu713=)
2g.165380624G>CCA429888142SCN2Ac.4341G>C (p.Leu1447=)
c.*2660G>C (n.*2660G>C)
c.*2328G>C (n.*2328G>C)
c.*4864G>C (n.*4864G>C)
c.*2283G>C (n.*2283G>C)
c.3945G>C (p.Leu1315=)
n.7409G>C
c.4311G>C (p.Leu1437=)
c.3588G>C (p.Leu1196=)
c.2139G>C (p.Leu713=)
2g.165380624G>TCA429888141SCN2Ac.4341G>T (p.Leu1447=)
c.*2660G>T (n.*2660G>T)
c.*2328G>T (n.*2328G>T)
c.*4864G>T (n.*4864G>T)
c.*2283G>T (n.*2283G>T)
c.3945G>T (p.Leu1315=)
n.7409G>T
c.4311G>T (p.Leu1437=)
c.3588G>T (p.Leu1196=)
c.2139G>T (p.Leu713=)
 ClinVar dbSNP
2g.165380625T>ACA349033741SCN2Ac.4342T>A (p.Tyr1448Asn)
c.*2661T>A (n.*2661T>A)
c.*2329T>A (n.*2329T>A)
c.*4865T>A (n.*4865T>A)
c.*2284T>A (n.*2284T>A)
c.3946T>A (p.Tyr1316Asn)
n.7410T>A
c.4312T>A (p.Tyr1438Asn)
c.3589T>A (p.Tyr1197Asn)
c.2140T>A (p.Tyr714Asn)
2g.165380625T>CCA349033743SCN2Ac.4342T>C (p.Tyr1448His)
c.*2661T>C (n.*2661T>C)
c.*2329T>C (n.*2329T>C)
c.*4865T>C (n.*4865T>C)
c.*2284T>C (n.*2284T>C)
c.3946T>C (p.Tyr1316His)
n.7410T>C
c.4312T>C (p.Tyr1438His)
c.3589T>C (p.Tyr1197His)
c.2140T>C (p.Tyr714His)
2g.165380625T>GCA349033744SCN2Ac.4342T>G (p.Tyr1448Asp)
c.*2661T>G (n.*2661T>G)
c.*2329T>G (n.*2329T>G)
c.*4865T>G (n.*4865T>G)
c.*2284T>G (n.*2284T>G)
c.3946T>G (p.Tyr1316Asp)
n.7410T>G
c.4312T>G (p.Tyr1438Asp)
c.3589T>G (p.Tyr1197Asp)
c.2140T>G (p.Tyr714Asp)
2g.165380626_165380629dupCA915942929SCN2Ac.4343_4346dup (p.Met1449IlefsTer28)
c.*2662_*2665dup (n.*2662_*2665dup)
c.*2330_*2333dup (n.*2330_*2333dup)
c.*4866_*4869dup (n.*4866_*4869dup)
c.*2285_*2288dup (n.*2285_*2288dup)
c.3947_3950dup (p.Met1317IlefsTer28)
n.7411_7414dup
c.4313_4316dup (p.Met1439IlefsTer28)
c.3590_3593dup (p.Met1198IlefsTer28)
c.2141_2144dup (p.Met715IlefsTer28)
 ClinVar
2g.165380626A=CA1304561031SCN2Ac.4343A= (p.Tyr1448=)
c.*2662A= (n.*2662A=)
c.*2330A= (n.*2330A=)
c.*4866A= (n.*4866A=)
c.*2285A= (n.*2285A=)
c.3947A= (p.Tyr1316=)
n.7411A=
c.4313A= (p.Tyr1438=)
c.3590A= (p.Tyr1197=)
c.2141A= (p.Tyr714=)
2g.165380626A>CCA349033750SCN2Ac.4343A>C (p.Tyr1448Ser)
c.*2662A>C (n.*2662A>C)
c.*2330A>C (n.*2330A>C)
c.*4866A>C (n.*4866A>C)
c.*2285A>C (n.*2285A>C)
c.3947A>C (p.Tyr1316Ser)
n.7411A>C
c.4313A>C (p.Tyr1438Ser)
c.3590A>C (p.Tyr1197Ser)
c.2141A>C (p.Tyr714Ser)
2g.165380626A>GCA349033749SCN2Ac.4343A>G (p.Tyr1448Cys)
c.*2662A>G (n.*2662A>G)
c.*2330A>G (n.*2330A>G)
c.*4866A>G (n.*4866A>G)
c.*2285A>G (n.*2285A>G)
c.3947A>G (p.Tyr1316Cys)
n.7411A>G
c.4313A>G (p.Tyr1438Cys)
c.3590A>G (p.Tyr1197Cys)
c.2141A>G (p.Tyr714Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.165380626A>TCA349033746SCN2Ac.4343A>T (p.Tyr1448Phe)
c.*2662A>T (n.*2662A>T)
c.*2330A>T (n.*2330A>T)
c.*4866A>T (n.*4866A>T)
c.*2285A>T (n.*2285A>T)
c.3947A>T (p.Tyr1316Phe)
n.7411A>T
c.4313A>T (p.Tyr1438Phe)
c.3590A>T (p.Tyr1197Phe)
c.2141A>T (p.Tyr714Phe)
2g.165380627C>ACA349033756SCN2Ac.4344C>A (p.Tyr1448Ter)
c.*2663C>A (n.*2663C>A)
c.*2331C>A (n.*2331C>A)
c.*4867C>A (n.*4867C>A)
c.*2286C>A (n.*2286C>A)
c.3948C>A (p.Tyr1316Ter)
n.7412C>A
c.4314C>A (p.Tyr1438Ter)
c.3591C>A (p.Tyr1197Ter)
c.2142C>A (p.Tyr714Ter)
 gnomAD v4
2g.165380627C=CA1304561032SCN2Ac.4344C= (p.Tyr1448=)
c.*2663C= (n.*2663C=)
c.*2331C= (n.*2331C=)
c.*4867C= (n.*4867C=)
c.*2286C= (n.*2286C=)
c.3948C= (p.Tyr1316=)
n.7412C=
c.4314C= (p.Tyr1438=)
c.3591C= (p.Tyr1197=)
c.2142C= (p.Tyr714=)
2g.165380627C>GCA349033753SCN2Ac.4344C>G (p.Tyr1448Ter)
c.*2663C>G (n.*2663C>G)
c.*2331C>G (n.*2331C>G)
c.*4867C>G (n.*4867C>G)
c.*2286C>G (n.*2286C>G)
c.3948C>G (p.Tyr1316Ter)
n.7412C>G
c.4314C>G (p.Tyr1438Ter)
c.3591C>G (p.Tyr1197Ter)
c.2142C>G (p.Tyr714Ter)
2g.165380627C>TCA429888146SCN2Ac.4344C>T (p.Tyr1448=)
c.*2663C>T (n.*2663C>T)
c.*2331C>T (n.*2331C>T)
c.*4867C>T (n.*4867C>T)
c.*2286C>T (n.*2286C>T)
c.3948C>T (p.Tyr1316=)
n.7412C>T
c.4314C>T (p.Tyr1438=)
c.3591C>T (p.Tyr1197=)
c.2142C>T (p.Tyr714=)
 dbSNP gnomAD v4
2g.165380628A=CA1304561033SCN2Ac.4345A= (p.Met1449=)
c.*2664A= (n.*2664A=)
c.*2332A= (n.*2332A=)
c.*4868A= (n.*4868A=)
c.*2287A= (n.*2287A=)
c.3949A= (p.Met1317=)
n.7413A=
c.4315A= (p.Met1439=)
c.3592A= (p.Met1198=)
c.2143A= (p.Met715=)
2g.165380628A>CCA349033762SCN2Ac.4345A>C (p.Met1449Leu)
c.*2664A>C (n.*2664A>C)
c.*2332A>C (n.*2332A>C)
c.*4868A>C (n.*4868A>C)
c.*2287A>C (n.*2287A>C)
c.3949A>C (p.Met1317Leu)
n.7413A>C
c.4315A>C (p.Met1439Leu)
c.3592A>C (p.Met1198Leu)
c.2143A>C (p.Met715Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165380628A>GCA349033759SCN2Ac.4345A>G (p.Met1449Val)
c.*2664A>G (n.*2664A>G)
c.*2332A>G (n.*2332A>G)
c.*4868A>G (n.*4868A>G)
c.*2287A>G (n.*2287A>G)
c.3949A>G (p.Met1317Val)
n.7413A>G
c.4315A>G (p.Met1439Val)
c.3592A>G (p.Met1198Val)
c.2143A>G (p.Met715Val)
 gnomAD v4
2g.165380628A>TCA349033760SCN2Ac.4345A>T (p.Met1449Leu)
c.*2664A>T (n.*2664A>T)
c.*2332A>T (n.*2332A>T)
c.*4868A>T (n.*4868A>T)
c.*2287A>T (n.*2287A>T)
c.3949A>T (p.Met1317Leu)
n.7413A>T
c.4315A>T (p.Met1439Leu)
c.3592A>T (p.Met1198Leu)
c.2143A>T (p.Met715Leu)
2g.165380629T>ACA349033764SCN2Ac.4346T>A (p.Met1449Lys)
c.*2665T>A (n.*2665T>A)
c.*2333T>A (n.*2333T>A)
c.*4869T>A (n.*4869T>A)
c.*2288T>A (n.*2288T>A)
c.3950T>A (p.Met1317Lys)
n.7414T>A
c.4316T>A (p.Met1439Lys)
c.3593T>A (p.Met1198Lys)
c.2144T>A (p.Met715Lys)
2g.165380629T>CCA349033766SCN2Ac.4346T>C (p.Met1449Thr)
c.*2665T>C (n.*2665T>C)
c.*2333T>C (n.*2333T>C)
c.*4869T>C (n.*4869T>C)
c.*2288T>C (n.*2288T>C)
c.3950T>C (p.Met1317Thr)
n.7414T>C
c.4316T>C (p.Met1439Thr)
c.3593T>C (p.Met1198Thr)
c.2144T>C (p.Met715Thr)
2g.165380629T>GCA349033769SCN2Ac.4346T>G (p.Met1449Arg)
c.*2665T>G (n.*2665T>G)
c.*2333T>G (n.*2333T>G)
c.*4869T>G (n.*4869T>G)
c.*2288T>G (n.*2288T>G)
c.3950T>G (p.Met1317Arg)
n.7414T>G
c.4316T>G (p.Met1439Arg)
c.3593T>G (p.Met1198Arg)
c.2144T>G (p.Met715Arg)
2g.165380630G>ACA349033771SCN2Ac.4347G>A (p.Met1449Ile)
c.*2666G>A (n.*2666G>A)
c.*2334G>A (n.*2334G>A)
c.*4870G>A (n.*4870G>A)
c.*2289G>A (n.*2289G>A)
c.3951G>A (p.Met1317Ile)
n.7415G>A
c.4317G>A (p.Met1439Ile)
c.3594G>A (p.Met1198Ile)
c.2145G>A (p.Met715Ile)
2g.165380630G>CCA349033773SCN2Ac.4347G>C (p.Met1449Ile)
c.*2666G>C (n.*2666G>C)
c.*2334G>C (n.*2334G>C)
c.*4870G>C (n.*4870G>C)
c.*2289G>C (n.*2289G>C)
c.3951G>C (p.Met1317Ile)
n.7415G>C
c.4317G>C (p.Met1439Ile)
c.3594G>C (p.Met1198Ile)
c.2145G>C (p.Met715Ile)
2g.165380630G>TCA349033775SCN2Ac.4347G>T (p.Met1449Ile)
c.*2666G>T (n.*2666G>T)
c.*2334G>T (n.*2334G>T)
c.*4870G>T (n.*4870G>T)
c.*2289G>T (n.*2289G>T)
c.3951G>T (p.Met1317Ile)
n.7415G>T
c.4317G>T (p.Met1439Ile)
c.3594G>T (p.Met1198Ile)
c.2145G>T (p.Met715Ile)
 COSMIC COSMIC
2g.165380631T>ACA349033778SCN2Ac.4348T>A (p.Tyr1450Asn)
c.*2667T>A (n.*2667T>A)
c.*2335T>A (n.*2335T>A)
c.*4871T>A (n.*4871T>A)
c.*2290T>A (n.*2290T>A)
c.3952T>A (p.Tyr1318Asn)
n.7416T>A
c.4318T>A (p.Tyr1440Asn)
c.3595T>A (p.Tyr1199Asn)
c.2146T>A (p.Tyr716Asn)
2g.165380631T>CCA349033781SCN2Ac.4348T>C (p.Tyr1450His)
c.*2667T>C (n.*2667T>C)
c.*2335T>C (n.*2335T>C)
c.*4871T>C (n.*4871T>C)
c.*2290T>C (n.*2290T>C)
c.3952T>C (p.Tyr1318His)
n.7416T>C
c.4318T>C (p.Tyr1440His)
c.3595T>C (p.Tyr1199His)
c.2146T>C (p.Tyr716His)
2g.165380631T>GCA349033784SCN2Ac.4348T>G (p.Tyr1450Asp)
c.*2667T>G (n.*2667T>G)
c.*2335T>G (n.*2335T>G)
c.*4871T>G (n.*4871T>G)
c.*2290T>G (n.*2290T>G)
c.3952T>G (p.Tyr1318Asp)
n.7416T>G
c.4318T>G (p.Tyr1440Asp)
c.3595T>G (p.Tyr1199Asp)
c.2146T>G (p.Tyr716Asp)
2g.165380632A=CA1304561034SCN2Ac.4349A= (p.Tyr1450=)
c.*2668A= (n.*2668A=)
c.*2336A= (n.*2336A=)
c.*4872A= (n.*4872A=)
c.*2291A= (n.*2291A=)
c.3953A= (p.Tyr1318=)
n.7417A=
c.4319A= (p.Tyr1440=)
c.3596A= (p.Tyr1199=)
c.2147A= (p.Tyr716=)
2g.165380632A>CCA349033790SCN2Ac.4349A>C (p.Tyr1450Ser)
c.*2668A>C (n.*2668A>C)
c.*2336A>C (n.*2336A>C)
c.*4872A>C (n.*4872A>C)
c.*2291A>C (n.*2291A>C)
c.3953A>C (p.Tyr1318Ser)
n.7417A>C
c.4319A>C (p.Tyr1440Ser)
c.3596A>C (p.Tyr1199Ser)
c.2147A>C (p.Tyr716Ser)
2g.165380632A>GCA349033788SCN2Ac.4349A>G (p.Tyr1450Cys)
c.*2668A>G (n.*2668A>G)
c.*2336A>G (n.*2336A>G)
c.*4872A>G (n.*4872A>G)
c.*2291A>G (n.*2291A>G)
c.3953A>G (p.Tyr1318Cys)
n.7417A>G
c.4319A>G (p.Tyr1440Cys)
c.3596A>G (p.Tyr1199Cys)
c.2147A>G (p.Tyr716Cys)
 ClinVar dbSNP
2g.165380632A>TCA349033786SCN2Ac.4349A>T (p.Tyr1450Phe)
c.*2668A>T (n.*2668A>T)
c.*2336A>T (n.*2336A>T)
c.*4872A>T (n.*4872A>T)
c.*2291A>T (n.*2291A>T)
c.3953A>T (p.Tyr1318Phe)
n.7417A>T
c.4319A>T (p.Tyr1440Phe)
c.3596A>T (p.Tyr1199Phe)
c.2147A>T (p.Tyr716Phe)
2g.165380633T>ACA349033792SCN2Ac.4350T>A (p.Tyr1450Ter)
c.*2669T>A (n.*2669T>A)
c.*2337T>A (n.*2337T>A)
c.*4873T>A (n.*4873T>A)
c.*2292T>A (n.*2292T>A)
c.3954T>A (p.Tyr1318Ter)
n.7418T>A
c.4320T>A (p.Tyr1440Ter)
c.3597T>A (p.Tyr1199Ter)
c.2148T>A (p.Tyr716Ter)
2g.165380633T>CCA429888147SCN2Ac.4350T>C (p.Tyr1450=)
c.*2669T>C (n.*2669T>C)
c.*2337T>C (n.*2337T>C)
c.*4873T>C (n.*4873T>C)
c.*2292T>C (n.*2292T>C)
c.3954T>C (p.Tyr1318=)
n.7418T>C
c.4320T>C (p.Tyr1440=)
c.3597T>C (p.Tyr1199=)
c.2148T>C (p.Tyr716=)
2g.165380633T>GCA349033794SCN2Ac.4350T>G (p.Tyr1450Ter)
c.*2669T>G (n.*2669T>G)
c.*2337T>G (n.*2337T>G)
c.*4873T>G (n.*4873T>G)
c.*2292T>G (n.*2292T>G)
c.3954T>G (p.Tyr1318Ter)
n.7418T>G
c.4320T>G (p.Tyr1440Ter)
c.3597T>G (p.Tyr1199Ter)
c.2148T>G (p.Tyr716Ter)
 ClinVar dbSNP
2g.165380633T=CA1304561035SCN2Ac.4350T= (p.Tyr1450=)
c.*2669T= (n.*2669T=)
c.*2337T= (n.*2337T=)
c.*4873T= (n.*4873T=)
c.*2292T= (n.*2292T=)
c.3954T= (p.Tyr1318=)
n.7418T=
c.4320T= (p.Tyr1440=)
c.3597T= (p.Tyr1199=)
c.2148T= (p.Tyr716=)
2g.165380634C>ACA349033796SCN2Ac.4351C>A (p.Leu1451Ile)
c.*2670C>A (n.*2670C>A)
c.*2338C>A (n.*2338C>A)
c.*4874C>A (n.*4874C>A)
c.*2293C>A (n.*2293C>A)
c.3955C>A (p.Leu1319Ile)
n.7419C>A
c.4321C>A (p.Leu1441Ile)
c.3598C>A (p.Leu1200Ile)
c.2149C>A (p.Leu717Ile)
2g.165380634C>GCA349033799SCN2Ac.4351C>G (p.Leu1451Val)
c.*2670C>G (n.*2670C>G)
c.*2338C>G (n.*2338C>G)
c.*4874C>G (n.*4874C>G)
c.*2293C>G (n.*2293C>G)
c.3955C>G (p.Leu1319Val)
n.7419C>G
c.4321C>G (p.Leu1441Val)
c.3598C>G (p.Leu1200Val)
c.2149C>G (p.Leu717Val)
2g.165380634C>TCA349033800SCN2Ac.4351C>T (p.Leu1451Phe)
c.*2670C>T (n.*2670C>T)
c.*2338C>T (n.*2338C>T)
c.*4874C>T (n.*4874C>T)
c.*2293C>T (n.*2293C>T)
c.3955C>T (p.Leu1319Phe)
n.7419C>T
c.4321C>T (p.Leu1441Phe)
c.3598C>T (p.Leu1200Phe)
c.2149C>T (p.Leu717Phe)
2g.165380635T>ACA349033803SCN2Ac.4352T>A (p.Leu1451His)
c.*2671T>A (n.*2671T>A)
c.*2339T>A (n.*2339T>A)
c.*4875T>A (n.*4875T>A)
c.*2294T>A (n.*2294T>A)
c.3956T>A (p.Leu1319His)
n.7420T>A
c.4322T>A (p.Leu1441His)
c.3599T>A (p.Leu1200His)
c.2150T>A (p.Leu717His)
2g.165380635T>CCA349033804SCN2Ac.4352T>C (p.Leu1451Pro)
c.*2671T>C (n.*2671T>C)
c.*2339T>C (n.*2339T>C)
c.*4875T>C (n.*4875T>C)
c.*2294T>C (n.*2294T>C)
c.3956T>C (p.Leu1319Pro)
n.7420T>C
c.4322T>C (p.Leu1441Pro)
c.3599T>C (p.Leu1200Pro)
c.2150T>C (p.Leu717Pro)
2g.165380635T>GCA349033806SCN2Ac.4352T>G (p.Leu1451Arg)
c.*2671T>G (n.*2671T>G)
c.*2339T>G (n.*2339T>G)
c.*4875T>G (n.*4875T>G)
c.*2294T>G (n.*2294T>G)
c.3956T>G (p.Leu1319Arg)
n.7420T>G
c.4322T>G (p.Leu1441Arg)
c.3599T>G (p.Leu1200Arg)
c.2150T>G (p.Leu717Arg)
2g.165380636T>ACA429888149SCN2Ac.4353T>A (p.Leu1451=)
c.*2672T>A (n.*2672T>A)
c.*2340T>A (n.*2340T>A)
c.*4876T>A (n.*4876T>A)
c.*2295T>A (n.*2295T>A)
c.3957T>A (p.Leu1319=)
n.7421T>A
c.4323T>A (p.Leu1441=)
c.3600T>A (p.Leu1200=)
c.2151T>A (p.Leu717=)
2g.165380636T>CCA429888150SCN2Ac.4353T>C (p.Leu1451=)
c.*2672T>C (n.*2672T>C)
c.*2340T>C (n.*2340T>C)
c.*4876T>C (n.*4876T>C)
c.*2295T>C (n.*2295T>C)
c.3957T>C (p.Leu1319=)
n.7421T>C
c.4323T>C (p.Leu1441=)
c.3600T>C (p.Leu1200=)
c.2151T>C (p.Leu717=)
2g.165380636T>GCA429888151SCN2Ac.4353T>G (p.Leu1451=)
c.*2672T>G (n.*2672T>G)
c.*2340T>G (n.*2340T>G)
c.*4876T>G (n.*4876T>G)
c.*2295T>G (n.*2295T>G)
c.3957T>G (p.Leu1319=)
n.7421T>G
c.4323T>G (p.Leu1441=)
c.3600T>G (p.Leu1200=)
c.2151T>G (p.Leu717=)
 ClinVar dbSNP gnomAD v4
2g.165380637T>ACA349033808SCN2Ac.4354T>A (p.Tyr1452Asn)
c.*2673T>A (n.*2673T>A)
c.*2341T>A (n.*2341T>A)
c.*4877T>A (n.*4877T>A)
c.*2296T>A (n.*2296T>A)
c.3958T>A (p.Tyr1320Asn)
n.7422T>A
c.4324T>A (p.Tyr1442Asn)
c.3601T>A (p.Tyr1201Asn)
c.2152T>A (p.Tyr718Asn)
2g.165380637T>CCA349033809SCN2Ac.4354T>C (p.Tyr1452His)
c.*2673T>C (n.*2673T>C)
c.*2341T>C (n.*2341T>C)
c.*4877T>C (n.*4877T>C)
c.*2296T>C (n.*2296T>C)
c.3958T>C (p.Tyr1320His)
n.7422T>C
c.4324T>C (p.Tyr1442His)
c.3601T>C (p.Tyr1201His)
c.2152T>C (p.Tyr718His)
2g.165380637T>GCA349033810SCN2Ac.4354T>G (p.Tyr1452Asp)
c.*2673T>G (n.*2673T>G)
c.*2341T>G (n.*2341T>G)
c.*4877T>G (n.*4877T>G)
c.*2296T>G (n.*2296T>G)
c.3958T>G (p.Tyr1320Asp)
n.7422T>G
c.4324T>G (p.Tyr1442Asp)
c.3601T>G (p.Tyr1201Asp)
c.2152T>G (p.Tyr718Asp)
2g.165380638A>CCA349033817SCN2Ac.4355A>C (p.Tyr1452Ser)
c.*2674A>C (n.*2674A>C)
c.*2342A>C (n.*2342A>C)
c.*4878A>C (n.*4878A>C)
c.*2297A>C (n.*2297A>C)
c.3959A>C (p.Tyr1320Ser)
n.7423A>C
c.4325A>C (p.Tyr1442Ser)
c.3602A>C (p.Tyr1201Ser)
c.2153A>C (p.Tyr718Ser)
2g.165380638A>GCA349033814SCN2Ac.4355A>G (p.Tyr1452Cys)
c.*2674A>G (n.*2674A>G)
c.*2342A>G (n.*2342A>G)
c.*4878A>G (n.*4878A>G)
c.*2297A>G (n.*2297A>G)
c.3959A>G (p.Tyr1320Cys)
n.7423A>G
c.4325A>G (p.Tyr1442Cys)
c.3602A>G (p.Tyr1201Cys)
c.2153A>G (p.Tyr718Cys)
2g.165380638A>TCA349033811SCN2Ac.4355A>T (p.Tyr1452Phe)
c.*2674A>T (n.*2674A>T)
c.*2342A>T (n.*2342A>T)
c.*4878A>T (n.*4878A>T)
c.*2297A>T (n.*2297A>T)
c.3959A>T (p.Tyr1320Phe)
n.7423A>T
c.4325A>T (p.Tyr1442Phe)
c.3602A>T (p.Tyr1201Phe)
c.2153A>T (p.Tyr718Phe)
2g.165380639T>ACA349033818SCN2Ac.4356T>A (p.Tyr1452Ter)
c.*2675T>A (n.*2675T>A)
c.*2343T>A (n.*2343T>A)
c.*4879T>A (n.*4879T>A)
c.*2298T>A (n.*2298T>A)
c.3960T>A (p.Tyr1320Ter)
n.7424T>A
c.4326T>A (p.Tyr1442Ter)
c.3603T>A (p.Tyr1201Ter)
c.2154T>A (p.Tyr718Ter)
2g.165380639T>CCA429888153SCN2Ac.4356T>C (p.Tyr1452=)
c.*2675T>C (n.*2675T>C)
c.*2343T>C (n.*2343T>C)
c.*4879T>C (n.*4879T>C)
c.*2298T>C (n.*2298T>C)
c.3960T>C (p.Tyr1320=)
n.7424T>C
c.4326T>C (p.Tyr1442=)
c.3603T>C (p.Tyr1201=)
c.2154T>C (p.Tyr718=)
2g.165380639T>GCA349033820SCN2Ac.4356T>G (p.Tyr1452Ter)
c.*2675T>G (n.*2675T>G)
c.*2343T>G (n.*2343T>G)
c.*4879T>G (n.*4879T>G)
c.*2298T>G (n.*2298T>G)
c.3960T>G (p.Tyr1320Ter)
n.7424T>G
c.4326T>G (p.Tyr1442Ter)
c.3603T>G (p.Tyr1201Ter)
c.2154T>G (p.Tyr718Ter)
2g.165380640T>ACA349033823SCN2Ac.4357T>A (p.Phe1453Ile)
c.*2676T>A (n.*2676T>A)
c.*2344T>A (n.*2344T>A)
c.*4880T>A (n.*4880T>A)
c.*2299T>A (n.*2299T>A)
c.3961T>A (p.Phe1321Ile)
n.7425T>A
c.4327T>A (p.Phe1443Ile)
c.3604T>A (p.Phe1202Ile)
c.2155T>A (p.Phe719Ile)
2g.165380640T>CCA349033829SCN2Ac.4357T>C (p.Phe1453Leu)
c.*2676T>C (n.*2676T>C)
c.*2344T>C (n.*2344T>C)
c.*4880T>C (n.*4880T>C)
c.*2299T>C (n.*2299T>C)
c.3961T>C (p.Phe1321Leu)
n.7425T>C
c.4327T>C (p.Phe1443Leu)
c.3604T>C (p.Phe1202Leu)
c.2155T>C (p.Phe719Leu)
2g.165380640T>GCA349033831SCN2Ac.4357T>G (p.Phe1453Val)
c.*2676T>G (n.*2676T>G)
c.*2344T>G (n.*2344T>G)
c.*4880T>G (n.*4880T>G)
c.*2299T>G (n.*2299T>G)
c.3961T>G (p.Phe1321Val)
n.7425T>G
c.4327T>G (p.Phe1443Val)
c.3604T>G (p.Phe1202Val)
c.2155T>G (p.Phe719Val)
2g.165380641T>ACA349033835SCN2Ac.4358T>A (p.Phe1453Tyr)
c.*2677T>A (n.*2677T>A)
c.*2345T>A (n.*2345T>A)
c.*4881T>A (n.*4881T>A)
c.*2300T>A (n.*2300T>A)
c.3962T>A (p.Phe1321Tyr)
n.7426T>A
c.4328T>A (p.Phe1443Tyr)
c.3605T>A (p.Phe1202Tyr)
c.2156T>A (p.Phe719Tyr)
2g.165380641T>CCA349033837SCN2Ac.4358T>C (p.Phe1453Ser)
c.*2677T>C (n.*2677T>C)
c.*2345T>C (n.*2345T>C)
c.*4881T>C (n.*4881T>C)
c.*2300T>C (n.*2300T>C)
c.3962T>C (p.Phe1321Ser)
n.7426T>C
c.4328T>C (p.Phe1443Ser)
c.3605T>C (p.Phe1202Ser)
c.2156T>C (p.Phe719Ser)
2g.165380641T>GCA349033840SCN2Ac.4358T>G (p.Phe1453Cys)
c.*2677T>G (n.*2677T>G)
c.*2345T>G (n.*2345T>G)
c.*4881T>G (n.*4881T>G)
c.*2300T>G (n.*2300T>G)
c.3962T>G (p.Phe1321Cys)
n.7426T>G
c.4328T>G (p.Phe1443Cys)
c.3605T>G (p.Phe1202Cys)
c.2156T>G (p.Phe719Cys)
2g.165380642T>ACA349033842SCN2Ac.4359T>A (p.Phe1453Leu)
c.*2678T>A (n.*2678T>A)
c.*2346T>A (n.*2346T>A)
c.*4882T>A (n.*4882T>A)
c.*2301T>A (n.*2301T>A)
c.3963T>A (p.Phe1321Leu)
n.7427T>A
c.4329T>A (p.Phe1443Leu)
c.3606T>A (p.Phe1202Leu)
c.2157T>A (p.Phe719Leu)
2g.165380642T>CCA429888155SCN2Ac.4359T>C (p.Phe1453=)
c.*2678T>C (n.*2678T>C)
c.*2346T>C (n.*2346T>C)
c.*4882T>C (n.*4882T>C)
c.*2301T>C (n.*2301T>C)
c.3963T>C (p.Phe1321=)
n.7427T>C
c.4329T>C (p.Phe1443=)
c.3606T>C (p.Phe1202=)
c.2157T>C (p.Phe719=)
2g.165380642T>GCA349033843SCN2Ac.4359T>G (p.Phe1453Leu)
c.*2678T>G (n.*2678T>G)
c.*2346T>G (n.*2346T>G)
c.*4882T>G (n.*4882T>G)
c.*2301T>G (n.*2301T>G)
c.3963T>G (p.Phe1321Leu)
n.7427T>G
c.4329T>G (p.Phe1443Leu)
c.3606T>G (p.Phe1202Leu)
c.2157T>G (p.Phe719Leu)
2g.165380643G>ACA349033845SCN2Ac.4360G>A (p.Val1454Ile)
c.*2679G>A (n.*2679G>A)
c.*2347G>A (n.*2347G>A)
c.*4883G>A (n.*4883G>A)
c.*2302G>A (n.*2302G>A)
c.3964G>A (p.Val1322Ile)
n.7428G>A
c.4330G>A (p.Val1444Ile)
c.3607G>A (p.Val1203Ile)
c.2158G>A (p.Val720Ile)
2g.165380643G>CCA349033847SCN2Ac.4360G>C (p.Val1454Leu)
c.*2679G>C (n.*2679G>C)
c.*2347G>C (n.*2347G>C)
c.*4883G>C (n.*4883G>C)
c.*2302G>C (n.*2302G>C)
c.3964G>C (p.Val1322Leu)
n.7428G>C
c.4330G>C (p.Val1444Leu)
c.3607G>C (p.Val1203Leu)
c.2158G>C (p.Val720Leu)
2g.165380643G>TCA349033853SCN2Ac.4360G>T (p.Val1454Phe)
c.*2679G>T (n.*2679G>T)
c.*2347G>T (n.*2347G>T)
c.*4883G>T (n.*4883G>T)
c.*2302G>T (n.*2302G>T)
c.3964G>T (p.Val1322Phe)
n.7428G>T
c.4330G>T (p.Val1444Phe)
c.3607G>T (p.Val1203Phe)
c.2158G>T (p.Val720Phe)
2g.165380644T>ACA349033855SCN2Ac.4361T>A (p.Val1454Asp)
c.*2680T>A (n.*2680T>A)
c.*2348T>A (n.*2348T>A)
c.*4884T>A (n.*4884T>A)
c.*2303T>A (n.*2303T>A)
c.3965T>A (p.Val1322Asp)
n.7429T>A
c.4331T>A (p.Val1444Asp)
c.3608T>A (p.Val1203Asp)
c.2159T>A (p.Val720Asp)
2g.165380644T>CCA349033857SCN2Ac.4361T>C (p.Val1454Ala)
c.*2680T>C (n.*2680T>C)
c.*2348T>C (n.*2348T>C)
c.*4884T>C (n.*4884T>C)
c.*2303T>C (n.*2303T>C)
c.3965T>C (p.Val1322Ala)
n.7429T>C
c.4331T>C (p.Val1444Ala)
c.3608T>C (p.Val1203Ala)
c.2159T>C (p.Val720Ala)
 gnomAD v4
2g.165380644T>GCA349033856SCN2Ac.4361T>G (p.Val1454Gly)
c.*2680T>G (n.*2680T>G)
c.*2348T>G (n.*2348T>G)
c.*4884T>G (n.*4884T>G)
c.*2303T>G (n.*2303T>G)
c.3965T>G (p.Val1322Gly)
n.7429T>G
c.4331T>G (p.Val1444Gly)
c.3608T>G (p.Val1203Gly)
c.2159T>G (p.Val720Gly)
2g.165380645C>ACA429888156SCN2Ac.4362C>A (p.Val1454=)
c.*2681C>A (n.*2681C>A)
c.*2349C>A (n.*2349C>A)
c.*4885C>A (n.*4885C>A)
c.*2304C>A (n.*2304C>A)
c.3966C>A (p.Val1322=)
n.7430C>A
c.4332C>A (p.Val1444=)
c.3609C>A (p.Val1203=)
c.2160C>A (p.Val720=)
 gnomAD v4
2g.165380645C>GCA429888158SCN2Ac.4362C>G (p.Val1454=)
c.*2681C>G (n.*2681C>G)
c.*2349C>G (n.*2349C>G)
c.*4885C>G (n.*4885C>G)
c.*2304C>G (n.*2304C>G)
c.3966C>G (p.Val1322=)
n.7430C>G
c.4332C>G (p.Val1444=)
c.3609C>G (p.Val1203=)
c.2160C>G (p.Val720=)
2g.165380645C>TCA429888157SCN2Ac.4362C>T (p.Val1454=)
c.*2681C>T (n.*2681C>T)
c.*2349C>T (n.*2349C>T)
c.*4885C>T (n.*4885C>T)
c.*2304C>T (n.*2304C>T)
c.3966C>T (p.Val1322=)
n.7430C>T
c.4332C>T (p.Val1444=)
c.3609C>T (p.Val1203=)
c.2160C>T (p.Val720=)
 COSMIC COSMIC
2g.165380646A>CCA349033858SCN2Ac.4363A>C (p.Ile1455Leu)
c.*2682A>C (n.*2682A>C)
c.*2350A>C (n.*2350A>C)
c.*4886A>C (n.*4886A>C)
c.*2305A>C (n.*2305A>C)
c.3967A>C (p.Ile1323Leu)
n.7431A>C
c.4333A>C (p.Ile1445Leu)
c.3610A>C (p.Ile1204Leu)
c.2161A>C (p.Ile721Leu)
 gnomAD v4
2g.165380646A>GCA349033859SCN2Ac.4363A>G (p.Ile1455Val)
c.*2682A>G (n.*2682A>G)
c.*2350A>G (n.*2350A>G)
c.*4886A>G (n.*4886A>G)
c.*2305A>G (n.*2305A>G)
c.3967A>G (p.Ile1323Val)
n.7431A>G
c.4333A>G (p.Ile1445Val)
c.3610A>G (p.Ile1204Val)
c.2161A>G (p.Ile721Val)
 ClinVar
2g.165380646A>TCA349033860SCN2Ac.4363A>T (p.Ile1455Phe)
c.*2682A>T (n.*2682A>T)
c.*2350A>T (n.*2350A>T)
c.*4886A>T (n.*4886A>T)
c.*2305A>T (n.*2305A>T)
c.3967A>T (p.Ile1323Phe)
n.7431A>T
c.4333A>T (p.Ile1445Phe)
c.3610A>T (p.Ile1204Phe)
c.2161A>T (p.Ile721Phe)
 ClinVar dbSNP
2g.165380647T>ACA349033861SCN2Ac.4364T>A (p.Ile1455Asn)
c.*2683T>A (n.*2683T>A)
c.*2351T>A (n.*2351T>A)
c.*4887T>A (n.*4887T>A)
c.*2306T>A (n.*2306T>A)
c.3968T>A (p.Ile1323Asn)
n.7432T>A
c.4334T>A (p.Ile1445Asn)
c.3611T>A (p.Ile1204Asn)
c.2162T>A (p.Ile721Asn)
 ClinVar dbSNP
2g.165380647T>CCA349033862SCN2Ac.4364T>C (p.Ile1455Thr)
c.*2683T>C (n.*2683T>C)
c.*2351T>C (n.*2351T>C)
c.*4887T>C (n.*4887T>C)
c.*2306T>C (n.*2306T>C)
c.3968T>C (p.Ile1323Thr)
n.7432T>C
c.4334T>C (p.Ile1445Thr)
c.3611T>C (p.Ile1204Thr)
c.2162T>C (p.Ile721Thr)
2g.165380647T>GCA349033864SCN2Ac.4364T>G (p.Ile1455Ser)
c.*2683T>G (n.*2683T>G)
c.*2351T>G (n.*2351T>G)
c.*4887T>G (n.*4887T>G)
c.*2306T>G (n.*2306T>G)
c.3968T>G (p.Ile1323Ser)
n.7432T>G
c.4334T>G (p.Ile1445Ser)
c.3611T>G (p.Ile1204Ser)
c.2162T>G (p.Ile721Ser)
2g.165380648C>ACA429888159SCN2Ac.4365C>A (p.Ile1455=)
c.*2684C>A (n.*2684C>A)
c.*2352C>A (n.*2352C>A)
c.*4888C>A (n.*4888C>A)
c.*2307C>A (n.*2307C>A)
c.3969C>A (p.Ile1323=)
n.7433C>A
c.4335C>A (p.Ile1445=)
c.3612C>A (p.Ile1204=)
c.2163C>A (p.Ile721=)
2g.165380648C=CA1304561036SCN2Ac.4365C= (p.Ile1455=)
c.*2684C= (n.*2684C=)
c.*2352C= (n.*2352C=)
c.*4888C= (n.*4888C=)
c.*2307C= (n.*2307C=)
c.3969C= (p.Ile1323=)
n.7433C=
c.4335C= (p.Ile1445=)
c.3612C= (p.Ile1204=)
c.2163C= (p.Ile721=)
2g.165380648C>GCA349033865SCN2Ac.4365C>G (p.Ile1455Met)
c.*2684C>G (n.*2684C>G)
c.*2352C>G (n.*2352C>G)
c.*4888C>G (n.*4888C>G)
c.*2307C>G (n.*2307C>G)
c.3969C>G (p.Ile1323Met)
n.7433C>G
c.4335C>G (p.Ile1445Met)
c.3612C>G (p.Ile1204Met)
c.2163C>G (p.Ile721Met)
2g.165380648C>TCA1940269SCN2Ac.4365C>T (p.Ile1455=)
c.*2684C>T (n.*2684C>T)
c.*2352C>T (n.*2352C>T)
c.*4888C>T (n.*4888C>T)
c.*2307C>T (n.*2307C>T)
c.3969C>T (p.Ile1323=)
n.7433C>T
c.4335C>T (p.Ile1445=)
c.3612C>T (p.Ile1204=)
c.2163C>T (p.Ile721=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165380649T>ACA349033868SCN2Ac.4366T>A (p.Phe1456Ile)
c.*2685T>A (n.*2685T>A)
c.*2353T>A (n.*2353T>A)
c.*4889T>A (n.*4889T>A)
c.*2308T>A (n.*2308T>A)
c.3970T>A (p.Phe1324Ile)
n.7434T>A
c.4336T>A (p.Phe1446Ile)
c.3613T>A (p.Phe1205Ile)
c.2164T>A (p.Phe722Ile)
2g.165380649T>CCA349033874SCN2Ac.4366T>C (p.Phe1456Leu)
c.*2685T>C (n.*2685T>C)
c.*2353T>C (n.*2353T>C)
c.*4889T>C (n.*4889T>C)
c.*2308T>C (n.*2308T>C)
c.3970T>C (p.Phe1324Leu)
n.7434T>C
c.4336T>C (p.Phe1446Leu)
c.3613T>C (p.Phe1205Leu)
c.2164T>C (p.Phe722Leu)
2g.165380649T>GCA349033877SCN2Ac.4366T>G (p.Phe1456Val)
c.*2685T>G (n.*2685T>G)
c.*2353T>G (n.*2353T>G)
c.*4889T>G (n.*4889T>G)
c.*2308T>G (n.*2308T>G)
c.3970T>G (p.Phe1324Val)
n.7434T>G
c.4336T>G (p.Phe1446Val)
c.3613T>G (p.Phe1205Val)
c.2164T>G (p.Phe722Val)
 ClinVar
2g.165380649_165380652delinsTTTACA1304561037SCN2Ac.4366_4369delinsTTTA (p.Phe1456=)
c.*2685_*2688delinsTTTA (n.*2685_*2688delinsTTTA)
c.*2353_*2356delinsTTTA (n.*2353_*2356delinsTTTA)
c.*4889_*4892delinsTTTA (n.*4889_*4892delinsTTTA)
c.*2308_*2311delinsTTTA (n.*2308_*2311delinsTTTA)
c.3970_3973delinsTTTA (p.Phe1324=)
n.7434_7437delinsTTTA
c.4336_4339delinsTTTA (p.Phe1446=)
c.3613_3616delinsTTTA (p.Phe1205=)
c.2164_2167delinsTTTA (p.Phe722=)
2g.165380650T>ACA349033886SCN2Ac.4367T>A (p.Phe1456Tyr)
c.*2686T>A (n.*2686T>A)
c.*2354T>A (n.*2354T>A)
c.*4890T>A (n.*4890T>A)
c.*2309T>A (n.*2309T>A)
c.3971T>A (p.Phe1324Tyr)
n.7435T>A
c.4337T>A (p.Phe1446Tyr)
c.3614T>A (p.Phe1205Tyr)
c.2165T>A (p.Phe722Tyr)
2g.165380650T>CCA349033882SCN2Ac.4367T>C (p.Phe1456Ser)
c.*2686T>C (n.*2686T>C)
c.*2354T>C (n.*2354T>C)
c.*4890T>C (n.*4890T>C)
c.*2309T>C (n.*2309T>C)
c.3971T>C (p.Phe1324Ser)
n.7435T>C
c.4337T>C (p.Phe1446Ser)
c.3614T>C (p.Phe1205Ser)
c.2165T>C (p.Phe722Ser)
2g.165380650T>GCA349033879SCN2Ac.4367T>G (p.Phe1456Cys)
c.*2686T>G (n.*2686T>G)
c.*2354T>G (n.*2354T>G)
c.*4890T>G (n.*4890T>G)
c.*2309T>G (n.*2309T>G)
c.3971T>G (p.Phe1324Cys)
n.7435T>G
c.4337T>G (p.Phe1446Cys)
c.3614T>G (p.Phe1205Cys)
c.2165T>G (p.Phe722Cys)
2g.165380655_165380657delCA318176SCN2Ac.4372_4374del (p.Ile1458del)
c.*2691_*2693del (n.*2691_*2693del)
c.*2359_*2361del (n.*2359_*2361del)
c.*4895_*4897del (n.*4895_*4897del)
c.*2314_*2316del (n.*2314_*2316del)
c.3976_3978del (p.Ile1326del)
n.7440_7442del
c.4342_4344del (p.Ile1448del)
c.3619_3621del (p.Ile1207del)
c.2170_2172del (p.Ile724del)
 ClinVar dbSNP
2g.165380651T>ACA349033889SCN2Ac.4368T>A (p.Phe1456Leu)
c.*2687T>A (n.*2687T>A)
c.*2355T>A (n.*2355T>A)
c.*4891T>A (n.*4891T>A)
c.*2310T>A (n.*2310T>A)
c.3972T>A (p.Phe1324Leu)
n.7436T>A
c.4338T>A (p.Phe1446Leu)
c.3615T>A (p.Phe1205Leu)
c.2166T>A (p.Phe722Leu)
2g.165380651T>CCA429888161SCN2Ac.4368T>C (p.Phe1456=)
c.*2687T>C (n.*2687T>C)
c.*2355T>C (n.*2355T>C)
c.*4891T>C (n.*4891T>C)
c.*2310T>C (n.*2310T>C)
c.3972T>C (p.Phe1324=)
n.7436T>C
c.4338T>C (p.Phe1446=)
c.3615T>C (p.Phe1205=)
c.2166T>C (p.Phe722=)
2g.165380651T>GCA349033891SCN2Ac.4368T>G (p.Phe1456Leu)
c.*2687T>G (n.*2687T>G)
c.*2355T>G (n.*2355T>G)
c.*4891T>G (n.*4891T>G)
c.*2310T>G (n.*2310T>G)
c.3972T>G (p.Phe1324Leu)
n.7436T>G
c.4338T>G (p.Phe1446Leu)
c.3615T>G (p.Phe1205Leu)
c.2166T>G (p.Phe722Leu)
2g.165380652A=CA1304561038SCN2Ac.4369A= (p.Ile1457=)
c.*2688A= (n.*2688A=)
c.*2356A= (n.*2356A=)
c.*4892A= (n.*4892A=)
c.*2311A= (n.*2311A=)
c.3973A= (p.Ile1325=)
n.7437A=
c.4339A= (p.Ile1447=)
c.3616A= (p.Ile1206=)
c.2167A= (p.Ile723=)
2g.165380652A>CCA349033894SCN2Ac.4369A>C (p.Ile1457Leu)
c.*2688A>C (n.*2688A>C)
c.*2356A>C (n.*2356A>C)
c.*4892A>C (n.*4892A>C)
c.*2311A>C (n.*2311A>C)
c.3973A>C (p.Ile1325Leu)
n.7437A>C
c.4339A>C (p.Ile1447Leu)
c.3616A>C (p.Ile1206Leu)
c.2167A>C (p.Ile723Leu)
2g.165380652A>GCA317973SCN2Ac.4369A>G (p.Ile1457Val)
c.*2688A>G (n.*2688A>G)
c.*2356A>G (n.*2356A>G)
c.*4892A>G (n.*4892A>G)
c.*2311A>G (n.*2311A>G)
c.3973A>G (p.Ile1325Val)
n.7437A>G
c.4339A>G (p.Ile1447Val)
c.3616A>G (p.Ile1206Val)
c.2167A>G (p.Ile723Val)
 ClinVar dbSNP
2g.165380652A>TCA349033896SCN2Ac.4369A>T (p.Ile1457Phe)
c.*2688A>T (n.*2688A>T)
c.*2356A>T (n.*2356A>T)
c.*4892A>T (n.*4892A>T)
c.*2311A>T (n.*2311A>T)
c.3973A>T (p.Ile1325Phe)
n.7437A>T
c.4339A>T (p.Ile1447Phe)
c.3616A>T (p.Ile1206Phe)
c.2167A>T (p.Ile723Phe)
2g.165380653T>ACA349033899SCN2Ac.4370T>A (p.Ile1457Asn)
c.*2689T>A (n.*2689T>A)
c.*2357T>A (n.*2357T>A)
c.*4893T>A (n.*4893T>A)
c.*2312T>A (n.*2312T>A)
c.3974T>A (p.Ile1325Asn)
n.7438T>A
c.4340T>A (p.Ile1447Asn)
c.3617T>A (p.Ile1206Asn)
c.2168T>A (p.Ile723Asn)
 ClinVar
2g.165380653T>CCA349033903SCN2Ac.4370T>C (p.Ile1457Thr)
c.*2689T>C (n.*2689T>C)
c.*2357T>C (n.*2357T>C)
c.*4893T>C (n.*4893T>C)
c.*2312T>C (n.*2312T>C)
c.3974T>C (p.Ile1325Thr)
n.7438T>C
c.4340T>C (p.Ile1447Thr)
c.3617T>C (p.Ile1206Thr)
c.2168T>C (p.Ile723Thr)
2g.165380653T>GCA349033900SCN2Ac.4370T>G (p.Ile1457Ser)
c.*2689T>G (n.*2689T>G)
c.*2357T>G (n.*2357T>G)
c.*4893T>G (n.*4893T>G)
c.*2312T>G (n.*2312T>G)
c.3974T>G (p.Ile1325Ser)
n.7438T>G
c.4340T>G (p.Ile1447Ser)
c.3617T>G (p.Ile1206Ser)
c.2168T>G (p.Ile723Ser)
2g.165380654dupCA645369162SCN2Ac.4371dup (p.Ile1458TyrfsTer18)
c.*2690dup (n.*2690dup)
c.*2358dup (n.*2358dup)
c.*4894dup (n.*4894dup)
c.*2313dup (n.*2313dup)
c.3975dup (p.Ile1326TyrfsTer18)
n.7439dup
c.4341dup (p.Ile1448TyrfsTer18)
c.3618dup (p.Ile1207TyrfsTer18)
c.2169dup (p.Ile724TyrfsTer18)
 ClinVar dbSNP
2g.165380654T>ACA429888164SCN2Ac.4371T>A (p.Ile1457=)
c.*2690T>A (n.*2690T>A)
c.*2358T>A (n.*2358T>A)
c.*4894T>A (n.*4894T>A)
c.*2313T>A (n.*2313T>A)
c.3975T>A (p.Ile1325=)
n.7439T>A
c.4341T>A (p.Ile1447=)
c.3618T>A (p.Ile1206=)
c.2169T>A (p.Ile723=)
 dbSNP gnomAD v3 gnomAD v4
2g.165380654T>CCA429888165SCN2Ac.4371T>C (p.Ile1457=)
c.*2690T>C (n.*2690T>C)
c.*2358T>C (n.*2358T>C)
c.*4894T>C (n.*4894T>C)
c.*2313T>C (n.*2313T>C)
c.3975T>C (p.Ile1325=)
n.7439T>C
c.4341T>C (p.Ile1447=)
c.3618T>C (p.Ile1206=)
c.2169T>C (p.Ile723=)
2g.165380654T>GCA349033905SCN2Ac.4371T>G (p.Ile1457Met)
c.*2690T>G (n.*2690T>G)
c.*2358T>G (n.*2358T>G)
c.*4894T>G (n.*4894T>G)
c.*2313T>G (n.*2313T>G)
c.3975T>G (p.Ile1325Met)
n.7439T>G
c.4341T>G (p.Ile1447Met)
c.3618T>G (p.Ile1206Met)
c.2169T>G (p.Ile723Met)
2g.165380654T=CA1304561039SCN2Ac.4371T= (p.Ile1457=)
c.*2690T= (n.*2690T=)
c.*2358T= (n.*2358T=)
c.*4894T= (n.*4894T=)
c.*2313T= (n.*2313T=)
c.3975T= (p.Ile1325=)
n.7439T=
c.4341T= (p.Ile1447=)
c.3618T= (p.Ile1206=)
c.2169T= (p.Ile723=)
2g.165380655A>CCA349033919SCN2Ac.4372A>C (p.Ile1458Leu)
c.*2691A>C (n.*2691A>C)
c.*2359A>C (n.*2359A>C)
c.*4895A>C (n.*4895A>C)
c.*2314A>C (n.*2314A>C)
c.3976A>C (p.Ile1326Leu)
n.7440A>C
c.4342A>C (p.Ile1448Leu)
c.3619A>C (p.Ile1207Leu)
c.2170A>C (p.Ile724Leu)
2g.165380655A>GCA349033917SCN2Ac.4372A>G (p.Ile1458Val)
c.*2691A>G (n.*2691A>G)
c.*2359A>G (n.*2359A>G)
c.*4895A>G (n.*4895A>G)
c.*2314A>G (n.*2314A>G)
c.3976A>G (p.Ile1326Val)
n.7440A>G
c.4342A>G (p.Ile1448Val)
c.3619A>G (p.Ile1207Val)
c.2170A>G (p.Ile724Val)
2g.165380655A>TCA349033916SCN2Ac.4372A>T (p.Ile1458Phe)
c.*2691A>T (n.*2691A>T)
c.*2359A>T (n.*2359A>T)
c.*4895A>T (n.*4895A>T)
c.*2314A>T (n.*2314A>T)
c.3976A>T (p.Ile1326Phe)
n.7440A>T
c.4342A>T (p.Ile1448Phe)
c.3619A>T (p.Ile1207Phe)
c.2170A>T (p.Ile724Phe)
2g.165380656T>ACA349033922SCN2Ac.4373T>A (p.Ile1458Asn)
c.*2692T>A (n.*2692T>A)
c.*2360T>A (n.*2360T>A)
c.*4896T>A (n.*4896T>A)
c.*2315T>A (n.*2315T>A)
c.3977T>A (p.Ile1326Asn)
n.7441T>A
c.4343T>A (p.Ile1448Asn)
c.3620T>A (p.Ile1207Asn)
c.2171T>A (p.Ile724Asn)
2g.165380656T>CCA349033926SCN2Ac.4373T>C (p.Ile1458Thr)
c.*2692T>C (n.*2692T>C)
c.*2360T>C (n.*2360T>C)
c.*4896T>C (n.*4896T>C)
c.*2315T>C (n.*2315T>C)
c.3977T>C (p.Ile1326Thr)
n.7441T>C
c.4343T>C (p.Ile1448Thr)
c.3620T>C (p.Ile1207Thr)
c.2171T>C (p.Ile724Thr)
2g.165380656T>GCA349033925SCN2Ac.4373T>G (p.Ile1458Ser)
c.*2692T>G (n.*2692T>G)
c.*2360T>G (n.*2360T>G)
c.*4896T>G (n.*4896T>G)
c.*2315T>G (n.*2315T>G)
c.3977T>G (p.Ile1326Ser)
n.7441T>G
c.4343T>G (p.Ile1448Ser)
c.3620T>G (p.Ile1207Ser)
c.2171T>G (p.Ile724Ser)
2g.165380657T>ACA429888167SCN2Ac.4374T>A (p.Ile1458=)
c.*2693T>A (n.*2693T>A)
c.*2361T>A (n.*2361T>A)
c.*4897T>A (n.*4897T>A)
c.*2316T>A (n.*2316T>A)
c.3978T>A (p.Ile1326=)
n.7442T>A
c.4344T>A (p.Ile1448=)
c.3621T>A (p.Ile1207=)
c.2172T>A (p.Ile724=)
2g.165380657T>CCA429888168SCN2Ac.4374T>C (p.Ile1458=)
c.*2693T>C (n.*2693T>C)
c.*2361T>C (n.*2361T>C)
c.*4897T>C (n.*4897T>C)
c.*2316T>C (n.*2316T>C)
c.3978T>C (p.Ile1326=)
n.7442T>C
c.4344T>C (p.Ile1448=)
c.3621T>C (p.Ile1207=)
c.2172T>C (p.Ile724=)
2g.165380657T>GCA349033929SCN2Ac.4374T>G (p.Ile1458Met)
c.*2693T>G (n.*2693T>G)
c.*2361T>G (n.*2361T>G)
c.*4897T>G (n.*4897T>G)
c.*2316T>G (n.*2316T>G)
c.3978T>G (p.Ile1326Met)
n.7442T>G
c.4344T>G (p.Ile1448Met)
c.3621T>G (p.Ile1207Met)
c.2172T>G (p.Ile724Met)
2g.165380658T>ACA349033932SCN2Ac.4375T>A (p.Phe1459Ile)
c.*2694T>A (n.*2694T>A)
c.*2362T>A (n.*2362T>A)
c.*4898T>A (n.*4898T>A)
c.*2317T>A (n.*2317T>A)
c.3979T>A (p.Phe1327Ile)
n.7443T>A
c.4345T>A (p.Phe1449Ile)
c.3622T>A (p.Phe1208Ile)
c.2173T>A (p.Phe725Ile)
2g.165380658T>CCA349033934SCN2Ac.4375T>C (p.Phe1459Leu)
c.*2694T>C (n.*2694T>C)
c.*2362T>C (n.*2362T>C)
c.*4898T>C (n.*4898T>C)
c.*2317T>C (n.*2317T>C)
c.3979T>C (p.Phe1327Leu)
n.7443T>C
c.4345T>C (p.Phe1449Leu)
c.3622T>C (p.Phe1208Leu)
c.2173T>C (p.Phe725Leu)
2g.165380658T>GCA349033935SCN2Ac.4375T>G (p.Phe1459Val)
c.*2694T>G (n.*2694T>G)
c.*2362T>G (n.*2362T>G)
c.*4898T>G (n.*4898T>G)
c.*2317T>G (n.*2317T>G)
c.3979T>G (p.Phe1327Val)
n.7443T>G
c.4345T>G (p.Phe1449Val)
c.3622T>G (p.Phe1208Val)
c.2173T>G (p.Phe725Val)
2g.165380659T>ACA349033940SCN2Ac.4376T>A (p.Phe1459Tyr)
c.*2695T>A (n.*2695T>A)
c.*2363T>A (n.*2363T>A)
c.*4899T>A (n.*4899T>A)
c.*2318T>A (n.*2318T>A)
c.3980T>A (p.Phe1327Tyr)
n.7444T>A
c.4346T>A (p.Phe1449Tyr)
c.3623T>A (p.Phe1208Tyr)
c.2174T>A (p.Phe725Tyr)
2g.165380659T>CCA349033941SCN2Ac.4376T>C (p.Phe1459Ser)
c.*2695T>C (n.*2695T>C)
c.*2363T>C (n.*2363T>C)
c.*4899T>C (n.*4899T>C)
c.*2318T>C (n.*2318T>C)
c.3980T>C (p.Phe1327Ser)
n.7444T>C
c.4346T>C (p.Phe1449Ser)
c.3623T>C (p.Phe1208Ser)
c.2174T>C (p.Phe725Ser)
2g.165380659T>GCA349033943SCN2Ac.4376T>G (p.Phe1459Cys)
c.*2695T>G (n.*2695T>G)
c.*2363T>G (n.*2363T>G)
c.*4899T>G (n.*4899T>G)
c.*2318T>G (n.*2318T>G)
c.3980T>G (p.Phe1327Cys)
n.7444T>G
c.4346T>G (p.Phe1449Cys)
c.3623T>G (p.Phe1208Cys)
c.2174T>G (p.Phe725Cys)
 ClinVar dbSNP COSMIC
2g.165380660T>ACA349033946SCN2Ac.4377T>A (p.Phe1459Leu)
c.*2696T>A (n.*2696T>A)
c.*2364T>A (n.*2364T>A)
c.*4900T>A (n.*4900T>A)
c.*2319T>A (n.*2319T>A)
c.3981T>A (p.Phe1327Leu)
n.7445T>A
c.4347T>A (p.Phe1449Leu)
c.3624T>A (p.Phe1208Leu)
c.2175T>A (p.Phe725Leu)
2g.165380660T>CCA429888171SCN2Ac.4377T>C (p.Phe1459=)
c.*2696T>C (n.*2696T>C)
c.*2364T>C (n.*2364T>C)
c.*4900T>C (n.*4900T>C)
c.*2319T>C (n.*2319T>C)
c.3981T>C (p.Phe1327=)
n.7445T>C
c.4347T>C (p.Phe1449=)
c.3624T>C (p.Phe1208=)
c.2175T>C (p.Phe725=)
2g.165380660T>GCA349033949SCN2Ac.4377T>G (p.Phe1459Leu)
c.*2696T>G (n.*2696T>G)
c.*2364T>G (n.*2364T>G)
c.*4900T>G (n.*4900T>G)
c.*2319T>G (n.*2319T>G)
c.3981T>G (p.Phe1327Leu)
n.7445T>G
c.4347T>G (p.Phe1449Leu)
c.3624T>G (p.Phe1208Leu)
c.2175T>G (p.Phe725Leu)
 ClinVar
2g.165380661G>ACA349033952SCN2Ac.4378G>A (p.Gly1460Ser)
c.*2697G>A (n.*2697G>A)
c.*2365G>A (n.*2365G>A)
c.*4901G>A (n.*4901G>A)
c.*2320G>A (n.*2320G>A)
c.3982G>A (p.Gly1328Ser)
n.7446G>A
c.4348G>A (p.Gly1450Ser)
c.3625G>A (p.Gly1209Ser)
c.2176G>A (p.Gly726Ser)
2g.165380661G>CCA349033958SCN2Ac.4378G>C (p.Gly1460Arg)
c.*2697G>C (n.*2697G>C)
c.*2365G>C (n.*2365G>C)
c.*4901G>C (n.*4901G>C)
c.*2320G>C (n.*2320G>C)
c.3982G>C (p.Gly1328Arg)
n.7446G>C
c.4348G>C (p.Gly1450Arg)
c.3625G>C (p.Gly1209Arg)
c.2176G>C (p.Gly726Arg)
2g.165380661G>TCA349033959SCN2Ac.4378G>T (p.Gly1460Cys)
c.*2697G>T (n.*2697G>T)
c.*2365G>T (n.*2365G>T)
c.*4901G>T (n.*4901G>T)
c.*2320G>T (n.*2320G>T)
c.3982G>T (p.Gly1328Cys)
n.7446G>T
c.4348G>T (p.Gly1450Cys)
c.3625G>T (p.Gly1209Cys)
c.2176G>T (p.Gly726Cys)
 gnomAD v4 COSMIC COSMIC
2g.165380662G>ACA349033968SCN2Ac.4379G>A (p.Gly1460Asp)
c.*2698G>A (n.*2698G>A)
c.*2366G>A (n.*2366G>A)
c.*4902G>A (n.*4902G>A)
c.*2321G>A (n.*2321G>A)
c.3983G>A (p.Gly1328Asp)
n.7447G>A
c.4349G>A (p.Gly1450Asp)
c.3626G>A (p.Gly1209Asp)
c.2177G>A (p.Gly726Asp)
 ClinVar COSMIC COSMIC
2g.165380662G>CCA349033964SCN2Ac.4379G>C (p.Gly1460Ala)
c.*2698G>C (n.*2698G>C)
c.*2366G>C (n.*2366G>C)
c.*4902G>C (n.*4902G>C)
c.*2321G>C (n.*2321G>C)
c.3983G>C (p.Gly1328Ala)
n.7447G>C
c.4349G>C (p.Gly1450Ala)
c.3626G>C (p.Gly1209Ala)
c.2177G>C (p.Gly726Ala)
2g.165380662G>TCA349033966SCN2Ac.4379G>T (p.Gly1460Val)
c.*2698G>T (n.*2698G>T)
c.*2366G>T (n.*2366G>T)
c.*4902G>T (n.*4902G>T)
c.*2321G>T (n.*2321G>T)
c.3983G>T (p.Gly1328Val)
n.7447G>T
c.4349G>T (p.Gly1450Val)
c.3626G>T (p.Gly1209Val)
c.2177G>T (p.Gly726Val)
2g.165380663T>ACA429888176SCN2Ac.4380T>A (p.Gly1460=)
c.*2699T>A (n.*2699T>A)
c.*2367T>A (n.*2367T>A)
c.*4903T>A (n.*4903T>A)
c.*2322T>A (n.*2322T>A)
c.3984T>A (p.Gly1328=)
n.7448T>A
c.4350T>A (p.Gly1450=)
c.3627T>A (p.Gly1209=)
c.2178T>A (p.Gly726=)
2g.165380663T>CCA429888174SCN2Ac.4380T>C (p.Gly1460=)
c.*2699T>C (n.*2699T>C)
c.*2367T>C (n.*2367T>C)
c.*4903T>C (n.*4903T>C)
c.*2322T>C (n.*2322T>C)
c.3984T>C (p.Gly1328=)
n.7448T>C
c.4350T>C (p.Gly1450=)
c.3627T>C (p.Gly1209=)
c.2178T>C (p.Gly726=)
 gnomAD v4
2g.165380663T>GCA429888173SCN2Ac.4380T>G (p.Gly1460=)
c.*2699T>G (n.*2699T>G)
c.*2367T>G (n.*2367T>G)
c.*4903T>G (n.*4903T>G)
c.*2322T>G (n.*2322T>G)
c.3984T>G (p.Gly1328=)
n.7448T>G
c.4350T>G (p.Gly1450=)
c.3627T>G (p.Gly1209=)
c.2178T>G (p.Gly726=)
 dbSNP
2g.165380664T>ACA349033970SCN2Ac.4381T>A (p.Ser1461Thr)
c.*2700T>A (n.*2700T>A)
c.*2368T>A (n.*2368T>A)
c.*4904T>A (n.*4904T>A)
c.*2323T>A (n.*2323T>A)
c.3985T>A (p.Ser1329Thr)
n.7449T>A
c.4351T>A (p.Ser1451Thr)
c.3628T>A (p.Ser1210Thr)
c.2179T>A (p.Ser727Thr)
2g.165380664T>CCA349033973SCN2Ac.4381T>C (p.Ser1461Pro)
c.*2700T>C (n.*2700T>C)
c.*2368T>C (n.*2368T>C)
c.*4904T>C (n.*4904T>C)
c.*2323T>C (n.*2323T>C)
c.3985T>C (p.Ser1329Pro)
n.7449T>C
c.4351T>C (p.Ser1451Pro)
c.3628T>C (p.Ser1210Pro)
c.2179T>C (p.Ser727Pro)
2g.165380664T>GCA349033978SCN2Ac.4381T>G (p.Ser1461Ala)
c.*2700T>G (n.*2700T>G)
c.*2368T>G (n.*2368T>G)
c.*4904T>G (n.*4904T>G)
c.*2323T>G (n.*2323T>G)
c.3985T>G (p.Ser1329Ala)
n.7449T>G
c.4351T>G (p.Ser1451Ala)
c.3628T>G (p.Ser1210Ala)
c.2179T>G (p.Ser727Ala)
2g.165380665C>ACA349033980SCN2Ac.4382C>A (p.Ser1461Ter)
c.*2701C>A (n.*2701C>A)
c.*2369C>A (n.*2369C>A)
c.*4905C>A (n.*4905C>A)
c.*2324C>A (n.*2324C>A)
c.3986C>A (p.Ser1329Ter)
n.7450C>A
c.4352C>A (p.Ser1451Ter)
c.3629C>A (p.Ser1210Ter)
c.2180C>A (p.Ser727Ter)
2g.165380665C>GCA349033987SCN2Ac.4382C>G (p.Ser1461Ter)
c.*2701C>G (n.*2701C>G)
c.*2369C>G (n.*2369C>G)
c.*4905C>G (n.*4905C>G)
c.*2324C>G (n.*2324C>G)
c.3986C>G (p.Ser1329Ter)
n.7450C>G
c.4352C>G (p.Ser1451Ter)
c.3629C>G (p.Ser1210Ter)
c.2180C>G (p.Ser727Ter)
2g.165380665C>TCA349033990SCN2Ac.4382C>T (p.Ser1461Leu)
c.*2701C>T (n.*2701C>T)
c.*2369C>T (n.*2369C>T)
c.*4905C>T (n.*4905C>T)
c.*2324C>T (n.*2324C>T)
c.3986C>T (p.Ser1329Leu)
n.7450C>T
c.4352C>T (p.Ser1451Leu)
c.3629C>T (p.Ser1210Leu)
c.2180C>T (p.Ser727Leu)
2g.165380666A=CA1304561040SCN2Ac.4383A= (p.Ser1461=)
c.*2702A= (n.*2702A=)
c.*2370A= (n.*2370A=)
c.*4906A= (n.*4906A=)
c.*2325A= (n.*2325A=)
c.3987A= (p.Ser1329=)
n.7451A=
c.4353A= (p.Ser1451=)
c.3630A= (p.Ser1210=)
c.2181A= (p.Ser727=)
2g.165380666A>CCA429888178SCN2Ac.4383A>C (p.Ser1461=)
c.*2702A>C (n.*2702A>C)
c.*2370A>C (n.*2370A>C)
c.*4906A>C (n.*4906A>C)
c.*2325A>C (n.*2325A>C)
c.3987A>C (p.Ser1329=)
n.7451A>C
c.4353A>C (p.Ser1451=)
c.3630A>C (p.Ser1210=)
c.2181A>C (p.Ser727=)
2g.165380666A>GCA429888179SCN2Ac.4383A>G (p.Ser1461=)
c.*2702A>G (n.*2702A>G)
c.*2370A>G (n.*2370A>G)
c.*4906A>G (n.*4906A>G)
c.*2325A>G (n.*2325A>G)
c.3987A>G (p.Ser1329=)
n.7451A>G
c.4353A>G (p.Ser1451=)
c.3630A>G (p.Ser1210=)
c.2181A>G (p.Ser727=)
2g.165380666A>TCA1940270SCN2Ac.4383A>T (p.Ser1461=)
c.*2702A>T (n.*2702A>T)
c.*2370A>T (n.*2370A>T)
c.*4906A>T (n.*4906A>T)
c.*2325A>T (n.*2325A>T)
c.3987A>T (p.Ser1329=)
n.7451A>T
c.4353A>T (p.Ser1451=)
c.3630A>T (p.Ser1210=)
c.2181A>T (p.Ser727=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165380667T>ACA349033996SCN2Ac.4384T>A (p.Phe1462Ile)
c.*2703T>A (n.*2703T>A)
c.*2371T>A (n.*2371T>A)
c.*4907T>A (n.*4907T>A)
c.*2326T>A (n.*2326T>A)
c.3988T>A (p.Phe1330Ile)
n.7452T>A
c.4354T>A (p.Phe1452Ile)
c.3631T>A (p.Phe1211Ile)
c.2182T>A (p.Phe728Ile)
2g.165380667T>CCA349033997SCN2Ac.4384T>C (p.Phe1462Leu)
c.*2703T>C (n.*2703T>C)
c.*2371T>C (n.*2371T>C)
c.*4907T>C (n.*4907T>C)
c.*2326T>C (n.*2326T>C)
c.3988T>C (p.Phe1330Leu)
n.7452T>C
c.4354T>C (p.Phe1452Leu)
c.3631T>C (p.Phe1211Leu)
c.2182T>C (p.Phe728Leu)
2g.165380667T>GCA349033999SCN2Ac.4384T>G (p.Phe1462Val)
c.*2703T>G (n.*2703T>G)
c.*2371T>G (n.*2371T>G)
c.*4907T>G (n.*4907T>G)
c.*2326T>G (n.*2326T>G)
c.3988T>G (p.Phe1330Val)
n.7452T>G
c.4354T>G (p.Phe1452Val)
c.3631T>G (p.Phe1211Val)
c.2182T>G (p.Phe728Val)
2g.165380668delCA2586970446SCN2Ac.4385del (p.Phe1462SerfsTer4)
c.*2704del (n.*2704del)
c.*2372del (n.*2372del)
c.*4908del (n.*4908del)
c.*2327del (n.*2327del)
c.3989del (p.Phe1330SerfsTer4)
n.7453del
c.4355del (p.Phe1452SerfsTer4)
c.3632del (p.Phe1211SerfsTer4)
c.2183del (p.Phe728SerfsTer4)
2g.165380668T>ACA349034004SCN2Ac.4385T>A (p.Phe1462Tyr)
c.*2704T>A (n.*2704T>A)
c.*2372T>A (n.*2372T>A)
c.*4908T>A (n.*4908T>A)
c.*2327T>A (n.*2327T>A)
c.3989T>A (p.Phe1330Tyr)
n.7453T>A
c.4355T>A (p.Phe1452Tyr)
c.3632T>A (p.Phe1211Tyr)
c.2183T>A (p.Phe728Tyr)
2g.165380668T>CCA349034003SCN2Ac.4385T>C (p.Phe1462Ser)
c.*2704T>C (n.*2704T>C)
c.*2372T>C (n.*2372T>C)
c.*4908T>C (n.*4908T>C)
c.*2327T>C (n.*2327T>C)
c.3989T>C (p.Phe1330Ser)
n.7453T>C
c.4355T>C (p.Phe1452Ser)
c.3632T>C (p.Phe1211Ser)
c.2183T>C (p.Phe728Ser)
2g.165380668T>GCA349034002SCN2Ac.4385T>G (p.Phe1462Cys)
c.*2704T>G (n.*2704T>G)
c.*2372T>G (n.*2372T>G)
c.*4908T>G (n.*4908T>G)
c.*2327T>G (n.*2327T>G)
c.3989T>G (p.Phe1330Cys)
n.7453T>G
c.4355T>G (p.Phe1452Cys)
c.3632T>G (p.Phe1211Cys)
c.2183T>G (p.Phe728Cys)
2g.165380669C>ACA349034005SCN2Ac.4386C>A (p.Phe1462Leu)
c.*2705C>A (n.*2705C>A)
c.*2373C>A (n.*2373C>A)
c.*4909C>A (n.*4909C>A)
c.*2328C>A (n.*2328C>A)
c.3990C>A (p.Phe1330Leu)
n.7454C>A
c.4356C>A (p.Phe1452Leu)
c.3633C>A (p.Phe1211Leu)
c.2184C>A (p.Phe728Leu)
2g.165380669C=CA1304561041SCN2Ac.4386C= (p.Phe1462=)
c.*2705C= (n.*2705C=)
c.*2373C= (n.*2373C=)
c.*4909C= (n.*4909C=)
c.*2328C= (n.*2328C=)
c.3990C= (p.Phe1330=)
n.7454C=
c.4356C= (p.Phe1452=)
c.3633C= (p.Phe1211=)
c.2184C= (p.Phe728=)
2g.165380669C>GCA349034006SCN2Ac.4386C>G (p.Phe1462Leu)
c.*2705C>G (n.*2705C>G)
c.*2373C>G (n.*2373C>G)
c.*4909C>G (n.*4909C>G)
c.*2328C>G (n.*2328C>G)
c.3990C>G (p.Phe1330Leu)
n.7454C>G
c.4356C>G (p.Phe1452Leu)
c.3633C>G (p.Phe1211Leu)
c.2184C>G (p.Phe728Leu)
 ClinVar dbSNP
2g.165380669C>TCA429888182SCN2Ac.4386C>T (p.Phe1462=)
c.*2705C>T (n.*2705C>T)
c.*2373C>T (n.*2373C>T)
c.*4909C>T (n.*4909C>T)
c.*2328C>T (n.*2328C>T)
c.3990C>T (p.Phe1330=)
n.7454C>T
c.4356C>T (p.Phe1452=)
c.3633C>T (p.Phe1211=)
c.2184C>T (p.Phe728=)
 dbSNP
2g.165380670T>ACA349034009SCN2Ac.4387T>A (p.Phe1463Ile)
c.*2706T>A (n.*2706T>A)
c.*2374T>A (n.*2374T>A)
c.*4910T>A (n.*4910T>A)
c.*2329T>A (n.*2329T>A)
c.3991T>A (p.Phe1331Ile)
n.7455T>A
c.4357T>A (p.Phe1453Ile)
c.3634T>A (p.Phe1212Ile)
c.2185T>A (p.Phe729Ile)
2g.165380670T>CCA349034011SCN2Ac.4387T>C (p.Phe1463Leu)
c.*2706T>C (n.*2706T>C)
c.*2374T>C (n.*2374T>C)
c.*4910T>C (n.*4910T>C)
c.*2329T>C (n.*2329T>C)
c.3991T>C (p.Phe1331Leu)
n.7455T>C
c.4357T>C (p.Phe1453Leu)
c.3634T>C (p.Phe1212Leu)
c.2185T>C (p.Phe729Leu)
2g.165380670T>GCA349034014SCN2Ac.4387T>G (p.Phe1463Val)
c.*2706T>G (n.*2706T>G)
c.*2374T>G (n.*2374T>G)
c.*4910T>G (n.*4910T>G)
c.*2329T>G (n.*2329T>G)
c.3991T>G (p.Phe1331Val)
n.7455T>G
c.4357T>G (p.Phe1453Val)
c.3634T>G (p.Phe1212Val)
c.2185T>G (p.Phe729Val)
2g.165380672dupCA916082218SCN2Ac.4389dup (p.Thr1464TyrfsTer12)
c.*2708dup (n.*2708dup)
c.*2376dup (n.*2376dup)
c.*4912dup (n.*4912dup)
c.*2331dup (n.*2331dup)
c.3993dup (p.Thr1332TyrfsTer12)
n.7457dup
c.4359dup (p.Thr1454TyrfsTer12)
c.3636dup (p.Thr1213TyrfsTer12)
c.2187dup (p.Thr730TyrfsTer12)
 ClinVar dbSNP
2g.165380671T>ACA349034015SCN2Ac.4388T>A (p.Phe1463Tyr)
c.*2707T>A (n.*2707T>A)
c.*2375T>A (n.*2375T>A)
c.*4911T>A (n.*4911T>A)
c.*2330T>A (n.*2330T>A)
c.3992T>A (p.Phe1331Tyr)
n.7456T>A
c.4358T>A (p.Phe1453Tyr)
c.3635T>A (p.Phe1212Tyr)
c.2186T>A (p.Phe729Tyr)
2g.165380671T>CCA349034017SCN2Ac.4388T>C (p.Phe1463Ser)
c.*2707T>C (n.*2707T>C)
c.*2375T>C (n.*2375T>C)
c.*4911T>C (n.*4911T>C)
c.*2330T>C (n.*2330T>C)
c.3992T>C (p.Phe1331Ser)
n.7456T>C
c.4358T>C (p.Phe1453Ser)
c.3635T>C (p.Phe1212Ser)
c.2186T>C (p.Phe729Ser)
2g.165380671T>GCA349034019SCN2Ac.4388T>G (p.Phe1463Cys)
c.*2707T>G (n.*2707T>G)
c.*2375T>G (n.*2375T>G)
c.*4911T>G (n.*4911T>G)
c.*2330T>G (n.*2330T>G)
c.3992T>G (p.Phe1331Cys)
n.7456T>G
c.4358T>G (p.Phe1453Cys)
c.3635T>G (p.Phe1212Cys)
c.2186T>G (p.Phe729Cys)
2g.165380672T>ACA349034022SCN2Ac.4389T>A (p.Phe1463Leu)
c.*2708T>A (n.*2708T>A)
c.*2376T>A (n.*2376T>A)
c.*4912T>A (n.*4912T>A)
c.*2331T>A (n.*2331T>A)
c.3993T>A (p.Phe1331Leu)
n.7457T>A
c.4359T>A (p.Phe1453Leu)
c.3636T>A (p.Phe1212Leu)
c.2187T>A (p.Phe729Leu)
2g.165380672T>CCA429888186SCN2Ac.4389T>C (p.Phe1463=)
c.*2708T>C (n.*2708T>C)
c.*2376T>C (n.*2376T>C)
c.*4912T>C (n.*4912T>C)
c.*2331T>C (n.*2331T>C)
c.3993T>C (p.Phe1331=)
n.7457T>C
c.4359T>C (p.Phe1453=)
c.3636T>C (p.Phe1212=)
c.2187T>C (p.Phe729=)
2g.165380672T>GCA349034032SCN2Ac.4389T>G (p.Phe1463Leu)
c.*2708T>G (n.*2708T>G)
c.*2376T>G (n.*2376T>G)
c.*4912T>G (n.*4912T>G)
c.*2331T>G (n.*2331T>G)
c.3993T>G (p.Phe1331Leu)
n.7457T>G
c.4359T>G (p.Phe1453Leu)
c.3636T>G (p.Phe1212Leu)
c.2187T>G (p.Phe729Leu)
2g.165380673A>CCA349034035SCN2Ac.4390A>C (p.Thr1464Pro)
c.*2709A>C (n.*2709A>C)
c.*2377A>C (n.*2377A>C)
c.*4913A>C (n.*4913A>C)
c.*2332A>C (n.*2332A>C)
c.3994A>C (p.Thr1332Pro)
n.7458A>C
c.4360A>C (p.Thr1454Pro)
c.3637A>C (p.Thr1213Pro)
c.2188A>C (p.Thr730Pro)
2g.165380673A>GCA349034038SCN2Ac.4390A>G (p.Thr1464Ala)
c.*2709A>G (n.*2709A>G)
c.*2377A>G (n.*2377A>G)
c.*4913A>G (n.*4913A>G)
c.*2332A>G (n.*2332A>G)
c.3994A>G (p.Thr1332Ala)
n.7458A>G
c.4360A>G (p.Thr1454Ala)
c.3637A>G (p.Thr1213Ala)
c.2188A>G (p.Thr730Ala)
2g.165380673A>TCA349034040SCN2Ac.4390A>T (p.Thr1464Ser)
c.*2709A>T (n.*2709A>T)
c.*2377A>T (n.*2377A>T)
c.*4913A>T (n.*4913A>T)
c.*2332A>T (n.*2332A>T)
c.3994A>T (p.Thr1332Ser)
n.7458A>T
c.4360A>T (p.Thr1454Ser)
c.3637A>T (p.Thr1213Ser)
c.2188A>T (p.Thr730Ser)
2g.165380674C>ACA349034045SCN2Ac.4391C>A (p.Thr1464Asn)
c.*2710C>A (n.*2710C>A)
c.*2378C>A (n.*2378C>A)
c.*4914C>A (n.*4914C>A)
c.*2333C>A (n.*2333C>A)
c.3995C>A (p.Thr1332Asn)
n.7459C>A
c.4361C>A (p.Thr1454Asn)
c.3638C>A (p.Thr1213Asn)
c.2189C>A (p.Thr730Asn)
2g.165380674C=CA1304561042SCN2Ac.4391C= (p.Thr1464=)
c.*2710C= (n.*2710C=)
c.*2378C= (n.*2378C=)
c.*4914C= (n.*4914C=)
c.*2333C= (n.*2333C=)
c.3995C= (p.Thr1332=)
n.7459C=
c.4361C= (p.Thr1454=)
c.3638C= (p.Thr1213=)
c.2189C= (p.Thr730=)
2g.165380674C>GCA349034049SCN2Ac.4391C>G (p.Thr1464Ser)
c.*2710C>G (n.*2710C>G)
c.*2378C>G (n.*2378C>G)
c.*4914C>G (n.*4914C>G)
c.*2333C>G (n.*2333C>G)
c.3995C>G (p.Thr1332Ser)
n.7459C>G
c.4361C>G (p.Thr1454Ser)
c.3638C>G (p.Thr1213Ser)
c.2189C>G (p.Thr730Ser)
2g.165380674C>TCA349034047SCN2Ac.4391C>T (p.Thr1464Ile)
c.*2710C>T (n.*2710C>T)
c.*2378C>T (n.*2378C>T)
c.*4914C>T (n.*4914C>T)
c.*2333C>T (n.*2333C>T)
c.3995C>T (p.Thr1332Ile)
n.7459C>T
c.4361C>T (p.Thr1454Ile)
c.3638C>T (p.Thr1213Ile)
c.2189C>T (p.Thr730Ile)
 ClinVar dbSNP
2g.165380675C>ACA429888189SCN2Ac.4392C>A (p.Thr1464=)
c.*2711C>A (n.*2711C>A)
c.*2379C>A (n.*2379C>A)
c.*4915C>A (n.*4915C>A)
c.*2334C>A (n.*2334C>A)
c.3996C>A (p.Thr1332=)
n.7460C>A
c.4362C>A (p.Thr1454=)
c.3639C>A (p.Thr1213=)
c.2190C>A (p.Thr730=)
2g.165380675C>GCA429888190SCN2Ac.4392C>G (p.Thr1464=)
c.*2711C>G (n.*2711C>G)
c.*2379C>G (n.*2379C>G)
c.*4915C>G (n.*4915C>G)
c.*2334C>G (n.*2334C>G)
c.3996C>G (p.Thr1332=)
n.7460C>G
c.4362C>G (p.Thr1454=)
c.3639C>G (p.Thr1213=)
c.2190C>G (p.Thr730=)
 gnomAD v4
2g.165380675C>TCA429888192SCN2Ac.4392C>T (p.Thr1464=)
c.*2711C>T (n.*2711C>T)
c.*2379C>T (n.*2379C>T)
c.*4915C>T (n.*4915C>T)
c.*2334C>T (n.*2334C>T)
c.3996C>T (p.Thr1332=)
n.7460C>T
c.4362C>T (p.Thr1454=)
c.3639C>T (p.Thr1213=)
c.2190C>T (p.Thr730=)
 gnomAD v4
2g.165380676T>ACA349034052SCN2Ac.4393T>A (p.Leu1465Met)
c.*2712T>A (n.*2712T>A)
c.*2380T>A (n.*2380T>A)
c.*4916T>A (n.*4916T>A)
c.*2335T>A (n.*2335T>A)
c.3997T>A (p.Leu1333Met)
n.7461T>A
c.4363T>A (p.Leu1455Met)
c.3640T>A (p.Leu1214Met)
c.2191T>A (p.Leu731Met)
2g.165380676T>CCA429888194SCN2Ac.4393T>C (p.Leu1465=)
c.*2712T>C (n.*2712T>C)
c.*2380T>C (n.*2380T>C)
c.*4916T>C (n.*4916T>C)
c.*2335T>C (n.*2335T>C)
c.3997T>C (p.Leu1333=)
n.7461T>C
c.4363T>C (p.Leu1455=)
c.3640T>C (p.Leu1214=)
c.2191T>C (p.Leu731=)
2g.165380676T>GCA349034054SCN2Ac.4393T>G (p.Leu1465Val)
c.*2712T>G (n.*2712T>G)
c.*2380T>G (n.*2380T>G)
c.*4916T>G (n.*4916T>G)
c.*2335T>G (n.*2335T>G)
c.3997T>G (p.Leu1333Val)
n.7461T>G
c.4363T>G (p.Leu1455Val)
c.3640T>G (p.Leu1214Val)
c.2191T>G (p.Leu731Val)
2g.165380677T>ACA349034057SCN2Ac.4394T>A (p.Leu1465Ter)
c.*2713T>A (n.*2713T>A)
c.*2381T>A (n.*2381T>A)
c.*4917T>A (n.*4917T>A)
c.*2336T>A (n.*2336T>A)
c.3998T>A (p.Leu1333Ter)
n.7462T>A
c.4364T>A (p.Leu1455Ter)
c.3641T>A (p.Leu1214Ter)
c.2192T>A (p.Leu731Ter)
 dbSNP
2g.165380677T>CCA349034060SCN2Ac.4394T>C (p.Leu1465Ser)
c.*2713T>C (n.*2713T>C)
c.*2381T>C (n.*2381T>C)
c.*4917T>C (n.*4917T>C)
c.*2336T>C (n.*2336T>C)
c.3998T>C (p.Leu1333Ser)
n.7462T>C
c.4364T>C (p.Leu1455Ser)
c.3641T>C (p.Leu1214Ser)
c.2192T>C (p.Leu731Ser)
 gnomAD v4
2g.165380677T>GCA317976SCN2Ac.4394T>G (p.Leu1465Trp)
c.*2713T>G (n.*2713T>G)
c.*2381T>G (n.*2381T>G)
c.*4917T>G (n.*4917T>G)
c.*2336T>G (n.*2336T>G)
c.3998T>G (p.Leu1333Trp)
n.7462T>G
c.4364T>G (p.Leu1455Trp)
c.3641T>G (p.Leu1214Trp)
c.2192T>G (p.Leu731Trp)
 ClinVar dbSNP
2g.165380677T=CA1304561043SCN2Ac.4394T= (p.Leu1465=)
c.*2713T= (n.*2713T=)
c.*2381T= (n.*2381T=)
c.*4917T= (n.*4917T=)
c.*2336T= (n.*2336T=)
c.3998T= (p.Leu1333=)
n.7462T=
c.4364T= (p.Leu1455=)
c.3641T= (p.Leu1214=)
c.2192T= (p.Leu731=)
2g.165380678G>ACA429888196SCN2Ac.4395G>A (p.Leu1465=)
c.*2714G>A (n.*2714G>A)
c.*2382G>A (n.*2382G>A)
c.*4918G>A (n.*4918G>A)
c.*2337G>A (n.*2337G>A)
c.3999G>A (p.Leu1333=)
n.7463G>A
c.4365G>A (p.Leu1455=)
c.3642G>A (p.Leu1214=)
c.2193G>A (p.Leu731=)
2g.165380678G>CCA349034064SCN2Ac.4395G>C (p.Leu1465Phe)
c.*2714G>C (n.*2714G>C)
c.*2382G>C (n.*2382G>C)
c.*4918G>C (n.*4918G>C)
c.*2337G>C (n.*2337G>C)
c.3999G>C (p.Leu1333Phe)
n.7463G>C
c.4365G>C (p.Leu1455Phe)
c.3642G>C (p.Leu1214Phe)
c.2193G>C (p.Leu731Phe)
2g.165380678G>TCA349034066SCN2Ac.4395G>T (p.Leu1465Phe)
c.*2714G>T (n.*2714G>T)
c.*2382G>T (n.*2382G>T)
c.*4918G>T (n.*4918G>T)
c.*2337G>T (n.*2337G>T)
c.3999G>T (p.Leu1333Phe)
n.7463G>T
c.4365G>T (p.Leu1455Phe)
c.3642G>T (p.Leu1214Phe)
c.2193G>T (p.Leu731Phe)
2g.165380679A=CA1304561044SCN2Ac.4396A= (p.Asn1466=)
c.*2715A= (n.*2715A=)
c.*2383A= (n.*2383A=)
c.*4919A= (n.*4919A=)
c.*2338A= (n.*2338A=)
c.4000A= (p.Asn1334=)
n.7464A=
c.4366A= (p.Asn1456=)
c.3643A= (p.Asn1215=)
c.2194A= (p.Asn732=)
2g.165380679A>CCA349034070SCN2Ac.4396A>C (p.Asn1466His)
c.*2715A>C (n.*2715A>C)
c.*2383A>C (n.*2383A>C)
c.*4919A>C (n.*4919A>C)
c.*2338A>C (n.*2338A>C)
c.4000A>C (p.Asn1334His)
n.7464A>C
c.4366A>C (p.Asn1456His)
c.3643A>C (p.Asn1215His)
c.2194A>C (p.Asn732His)
2g.165380679A>GCA59746445SCN2Ac.4396A>G (p.Asn1466Asp)
c.*2715A>G (n.*2715A>G)
c.*2383A>G (n.*2383A>G)
c.*4919A>G (n.*4919A>G)
c.*2338A>G (n.*2338A>G)
c.4000A>G (p.Asn1334Asp)
n.7464A>G
c.4366A>G (p.Asn1456Asp)
c.3643A>G (p.Asn1215Asp)
c.2194A>G (p.Asn732Asp)
 dbSNP
2g.165380679A>TCA349034079SCN2Ac.4396A>T (p.Asn1466Tyr)
c.*2715A>T (n.*2715A>T)
c.*2383A>T (n.*2383A>T)
c.*4919A>T (n.*4919A>T)
c.*2338A>T (n.*2338A>T)
c.4000A>T (p.Asn1334Tyr)
n.7464A>T
c.4366A>T (p.Asn1456Tyr)
c.3643A>T (p.Asn1215Tyr)
c.2194A>T (p.Asn732Tyr)
2g.165380680A>CCA349034090SCN2Ac.4397A>C (p.Asn1466Thr)
c.*2716A>C (n.*2716A>C)
c.*2384A>C (n.*2384A>C)
c.*4920A>C (n.*4920A>C)
c.*2339A>C (n.*2339A>C)
c.4001A>C (p.Asn1334Thr)
n.7465A>C
c.4367A>C (p.Asn1456Thr)
c.3644A>C (p.Asn1215Thr)
c.2195A>C (p.Asn732Thr)
2g.165380680A>GCA349034084SCN2Ac.4397A>G (p.Asn1466Ser)
c.*2716A>G (n.*2716A>G)
c.*2384A>G (n.*2384A>G)
c.*4920A>G (n.*4920A>G)
c.*2339A>G (n.*2339A>G)
c.4001A>G (p.Asn1334Ser)
n.7465A>G
c.4367A>G (p.Asn1456Ser)
c.3644A>G (p.Asn1215Ser)
c.2195A>G (p.Asn732Ser)
 gnomAD v4
2g.165380680A>TCA349034083SCN2Ac.4397A>T (p.Asn1466Ile)
c.*2716A>T (n.*2716A>T)
c.*2384A>T (n.*2384A>T)
c.*4920A>T (n.*4920A>T)
c.*2339A>T (n.*2339A>T)
c.4001A>T (p.Asn1334Ile)
n.7465A>T
c.4367A>T (p.Asn1456Ile)
c.3644A>T (p.Asn1215Ile)
c.2195A>T (p.Asn732Ile)
2g.165380681T>ACA349034093SCN2Ac.4398T>A (p.Asn1466Lys)
c.*2717T>A (n.*2717T>A)
c.*2385T>A (n.*2385T>A)
c.*4921T>A (n.*4921T>A)
c.*2340T>A (n.*2340T>A)
c.4002T>A (p.Asn1334Lys)
n.7466T>A
c.4368T>A (p.Asn1456Lys)
c.3645T>A (p.Asn1215Lys)
c.2196T>A (p.Asn732Lys)
2g.165380681T>CCA429888200SCN2Ac.4398T>C (p.Asn1466=)
c.*2717T>C (n.*2717T>C)
c.*2385T>C (n.*2385T>C)
c.*4921T>C (n.*4921T>C)
c.*2340T>C (n.*2340T>C)
c.4002T>C (p.Asn1334=)
n.7466T>C
c.4368T>C (p.Asn1456=)
c.3645T>C (p.Asn1215=)
c.2196T>C (p.Asn732=)
2g.165380681T>GCA349034097SCN2Ac.4398T>G (p.Asn1466Lys)
c.*2717T>G (n.*2717T>G)
c.*2385T>G (n.*2385T>G)
c.*4921T>G (n.*4921T>G)
c.*2340T>G (n.*2340T>G)
c.4002T>G (p.Asn1334Lys)
n.7466T>G
c.4368T>G (p.Asn1456Lys)
c.3645T>G (p.Asn1215Lys)
c.2196T>G (p.Asn732Lys)
2g.165380682delCA2700919468SCN2Ac.4399del (p.Leu1467PhefsTer7)
c.*2718del (n.*2718del)
c.*2386del (n.*2386del)
c.*4922del (n.*4922del)
c.*2341del (n.*2341del)
c.4003del (p.Leu1335PhefsTer7)
n.7467del
c.4369del (p.Leu1457PhefsTer7)
c.3646del (p.Leu1216PhefsTer7)
c.2197del (p.Leu733PhefsTer7)
 dbSNP
2g.165380682C>ACA349034099SCN2Ac.4399C>A (p.Leu1467Ile)
c.*2718C>A (n.*2718C>A)
c.*2386C>A (n.*2386C>A)
c.*4922C>A (n.*4922C>A)
c.*2341C>A (n.*2341C>A)
c.4003C>A (p.Leu1335Ile)
n.7467C>A
c.4369C>A (p.Leu1457Ile)
c.3646C>A (p.Leu1216Ile)
c.2197C>A (p.Leu733Ile)
 COSMIC COSMIC
2g.165380682C>GCA349034102SCN2Ac.4399C>G (p.Leu1467Val)
c.*2718C>G (n.*2718C>G)
c.*2386C>G (n.*2386C>G)
c.*4922C>G (n.*4922C>G)
c.*2341C>G (n.*2341C>G)
c.4003C>G (p.Leu1335Val)
n.7467C>G
c.4369C>G (p.Leu1457Val)
c.3646C>G (p.Leu1216Val)
c.2197C>G (p.Leu733Val)
 ClinVar dbSNP
2g.165380682C>TCA349034106SCN2Ac.4399C>T (p.Leu1467Phe)
c.*2718C>T (n.*2718C>T)
c.*2386C>T (n.*2386C>T)
c.*4922C>T (n.*4922C>T)
c.*2341C>T (n.*2341C>T)
c.4003C>T (p.Leu1335Phe)
n.7467C>T
c.4369C>T (p.Leu1457Phe)
c.3646C>T (p.Leu1216Phe)
c.2197C>T (p.Leu733Phe)
2g.165380683T>ACA349034108SCN2Ac.4400T>A (p.Leu1467His)
c.*2719T>A (n.*2719T>A)
c.*2387T>A (n.*2387T>A)
c.*4923T>A (n.*4923T>A)
c.*2342T>A (n.*2342T>A)
c.4004T>A (p.Leu1335His)
n.7468T>A
c.4370T>A (p.Leu1457His)
c.3647T>A (p.Leu1216His)
c.2198T>A (p.Leu733His)
2g.165380683T>CCA349034109SCN2Ac.4400T>C (p.Leu1467Pro)
c.*2719T>C (n.*2719T>C)
c.*2387T>C (n.*2387T>C)
c.*4923T>C (n.*4923T>C)
c.*2342T>C (n.*2342T>C)
c.4004T>C (p.Leu1335Pro)
n.7468T>C
c.4370T>C (p.Leu1457Pro)
c.3647T>C (p.Leu1216Pro)
c.2198T>C (p.Leu733Pro)
2g.165380683T>GCA349034111SCN2Ac.4400T>G (p.Leu1467Arg)
c.*2719T>G (n.*2719T>G)
c.*2387T>G (n.*2387T>G)
c.*4923T>G (n.*4923T>G)
c.*2342T>G (n.*2342T>G)
c.4004T>G (p.Leu1335Arg)
n.7468T>G
c.4370T>G (p.Leu1457Arg)
c.3647T>G (p.Leu1216Arg)
c.2198T>G (p.Leu733Arg)
2g.165380684T>ACA429888203SCN2Ac.4401T>A (p.Leu1467=)
c.*2720T>A (n.*2720T>A)
c.*2388T>A (n.*2388T>A)
c.*4924T>A (n.*4924T>A)
c.*2343T>A (n.*2343T>A)
c.4005T>A (p.Leu1335=)
n.7469T>A
c.4371T>A (p.Leu1457=)
c.3648T>A (p.Leu1216=)
c.2199T>A (p.Leu733=)
2g.165380684T>CCA429888204SCN2Ac.4401T>C (p.Leu1467=)
c.*2720T>C (n.*2720T>C)
c.*2388T>C (n.*2388T>C)
c.*4924T>C (n.*4924T>C)
c.*2343T>C (n.*2343T>C)
c.4005T>C (p.Leu1335=)
n.7469T>C
c.4371T>C (p.Leu1457=)
c.3648T>C (p.Leu1216=)
c.2199T>C (p.Leu733=)
2g.165380684T>GCA1940271SCN2Ac.4401T>G (p.Leu1467=)
c.*2720T>G (n.*2720T>G)
c.*2388T>G (n.*2388T>G)
c.*4924T>G (n.*4924T>G)
c.*2343T>G (n.*2343T>G)
c.4005T>G (p.Leu1335=)
n.7469T>G
c.4371T>G (p.Leu1457=)
c.3648T>G (p.Leu1216=)
c.2199T>G (p.Leu733=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165380684T=CA1304561045SCN2Ac.4401T= (p.Leu1467=)
c.*2720T= (n.*2720T=)
c.*2388T= (n.*2388T=)
c.*4924T= (n.*4924T=)
c.*2343T= (n.*2343T=)
c.4005T= (p.Leu1335=)
n.7469T=
c.4371T= (p.Leu1457=)
c.3648T= (p.Leu1216=)
c.2199T= (p.Leu733=)
2g.165380685T>ACA349034115SCN2Ac.4402T>A (p.Phe1468Ile)
c.*2721T>A (n.*2721T>A)
c.*2389T>A (n.*2389T>A)
c.*4925T>A (n.*4925T>A)
c.*2344T>A (n.*2344T>A)
c.4006T>A (p.Phe1336Ile)
n.7470T>A
c.4372T>A (p.Phe1458Ile)
c.3649T>A (p.Phe1217Ile)
c.2200T>A (p.Phe734Ile)
2g.165380685T>CCA349034117SCN2Ac.4402T>C (p.Phe1468Leu)
c.*2721T>C (n.*2721T>C)
c.*2389T>C (n.*2389T>C)
c.*4925T>C (n.*4925T>C)
c.*2344T>C (n.*2344T>C)
c.4006T>C (p.Phe1336Leu)
n.7470T>C
c.4372T>C (p.Phe1458Leu)
c.3649T>C (p.Phe1217Leu)
c.2200T>C (p.Phe734Leu)
2g.165380685T>GCA349034119SCN2Ac.4402T>G (p.Phe1468Val)
c.*2721T>G (n.*2721T>G)
c.*2389T>G (n.*2389T>G)
c.*4925T>G (n.*4925T>G)
c.*2344T>G (n.*2344T>G)
c.4006T>G (p.Phe1336Val)
n.7470T>G
c.4372T>G (p.Phe1458Val)
c.3649T>G (p.Phe1217Val)
c.2200T>G (p.Phe734Val)
2g.165380686T>ACA349034130SCN2Ac.4403T>A (p.Phe1468Tyr)
c.*2722T>A (n.*2722T>A)
c.*2390T>A (n.*2390T>A)
c.*4926T>A (n.*4926T>A)
c.*2345T>A (n.*2345T>A)
c.4007T>A (p.Phe1336Tyr)
n.7471T>A
c.4373T>A (p.Phe1458Tyr)
c.3650T>A (p.Phe1217Tyr)
c.2201T>A (p.Phe734Tyr)
2g.165380686T>CCA349034127SCN2Ac.4403T>C (p.Phe1468Ser)
c.*2722T>C (n.*2722T>C)
c.*2390T>C (n.*2390T>C)
c.*4926T>C (n.*4926T>C)
c.*2345T>C (n.*2345T>C)
c.4007T>C (p.Phe1336Ser)
n.7471T>C
c.4373T>C (p.Phe1458Ser)
c.3650T>C (p.Phe1217Ser)
c.2201T>C (p.Phe734Ser)
 ClinVar dbSNP
2g.165380686T>GCA349034123SCN2Ac.4403T>G (p.Phe1468Cys)
c.*2722T>G (n.*2722T>G)
c.*2390T>G (n.*2390T>G)
c.*4926T>G (n.*4926T>G)
c.*2345T>G (n.*2345T>G)
c.4007T>G (p.Phe1336Cys)
n.7471T>G
c.4373T>G (p.Phe1458Cys)
c.3650T>G (p.Phe1217Cys)
c.2201T>G (p.Phe734Cys)
2g.165380686T=CA1304561046SCN2Ac.4403T= (p.Phe1468=)
c.*2722T= (n.*2722T=)
c.*2390T= (n.*2390T=)
c.*4926T= (n.*4926T=)
c.*2345T= (n.*2345T=)
c.4007T= (p.Phe1336=)
n.7471T=
c.4373T= (p.Phe1458=)
c.3650T= (p.Phe1217=)
c.2201T= (p.Phe734=)
2g.165380687C>ACA349034132SCN2Ac.4404C>A (p.Phe1468Leu)
c.*2723C>A (n.*2723C>A)
c.*2391C>A (n.*2391C>A)
c.*4927C>A (n.*4927C>A)
c.*2346C>A (n.*2346C>A)
c.4008C>A (p.Phe1336Leu)
n.7472C>A
c.4374C>A (p.Phe1458Leu)
c.3651C>A (p.Phe1217Leu)
c.2202C>A (p.Phe734Leu)
2g.165380687C>GCA349034136SCN2Ac.4404C>G (p.Phe1468Leu)
c.*2723C>G (n.*2723C>G)
c.*2391C>G (n.*2391C>G)
c.*4927C>G (n.*4927C>G)
c.*2346C>G (n.*2346C>G)
c.4008C>G (p.Phe1336Leu)
n.7472C>G
c.4374C>G (p.Phe1458Leu)
c.3651C>G (p.Phe1217Leu)
c.2202C>G (p.Phe734Leu)
2g.165380687C>TCA429888207SCN2Ac.4404C>T (p.Phe1468=)
c.*2723C>T (n.*2723C>T)
c.*2391C>T (n.*2391C>T)
c.*4927C>T (n.*4927C>T)
c.*2346C>T (n.*2346C>T)
c.4008C>T (p.Phe1336=)
n.7472C>T
c.4374C>T (p.Phe1458=)
c.3651C>T (p.Phe1217=)
c.2202C>T (p.Phe734=)
 ClinVar dbSNP gnomAD v4
2g.165380688A>CCA349034143SCN2Ac.4405A>C (p.Ile1469Leu)
c.*2724A>C (n.*2724A>C)
c.*2392A>C (n.*2392A>C)
c.*4928A>C (n.*4928A>C)
c.*2347A>C (n.*2347A>C)
c.4009A>C (p.Ile1337Leu)
n.7473A>C
c.4375A>C (p.Ile1459Leu)
c.3652A>C (p.Ile1218Leu)
c.2203A>C (p.Ile735Leu)
2g.165380688A>GCA349034144SCN2Ac.4405A>G (p.Ile1469Val)
c.*2724A>G (n.*2724A>G)
c.*2392A>G (n.*2392A>G)
c.*4928A>G (n.*4928A>G)
c.*2347A>G (n.*2347A>G)
c.4009A>G (p.Ile1337Val)
n.7473A>G
c.4375A>G (p.Ile1459Val)
c.3652A>G (p.Ile1218Val)
c.2203A>G (p.Ile735Val)
2g.165380688A>TCA349034146SCN2Ac.4405A>T (p.Ile1469Phe)
c.*2724A>T (n.*2724A>T)
c.*2392A>T (n.*2392A>T)
c.*4928A>T (n.*4928A>T)
c.*2347A>T (n.*2347A>T)
c.4009A>T (p.Ile1337Phe)
n.7473A>T
c.4375A>T (p.Ile1459Phe)
c.3652A>T (p.Ile1218Phe)
c.2203A>T (p.Ile735Phe)
2g.165380689T>ACA349034149SCN2Ac.4406T>A (p.Ile1469Asn)
c.*2725T>A (n.*2725T>A)
c.*2393T>A (n.*2393T>A)
c.*4929T>A (n.*4929T>A)
c.*2348T>A (n.*2348T>A)
c.4010T>A (p.Ile1337Asn)
n.7474T>A
c.4376T>A (p.Ile1459Asn)
c.3653T>A (p.Ile1218Asn)
c.2204T>A (p.Ile735Asn)
2g.165380689T>CCA349034152SCN2Ac.4406T>C (p.Ile1469Thr)
c.*2725T>C (n.*2725T>C)
c.*2393T>C (n.*2393T>C)
c.*4929T>C (n.*4929T>C)
c.*2348T>C (n.*2348T>C)
c.4010T>C (p.Ile1337Thr)
n.7474T>C
c.4376T>C (p.Ile1459Thr)
c.3653T>C (p.Ile1218Thr)
c.2204T>C (p.Ile735Thr)
 ClinVar
2g.165380689T>GCA349034155SCN2Ac.4406T>G (p.Ile1469Ser)
c.*2725T>G (n.*2725T>G)
c.*2393T>G (n.*2393T>G)
c.*4929T>G (n.*4929T>G)
c.*2348T>G (n.*2348T>G)
c.4010T>G (p.Ile1337Ser)
n.7474T>G
c.4376T>G (p.Ile1459Ser)
c.3653T>G (p.Ile1218Ser)
c.2204T>G (p.Ile735Ser)
2g.165380690delCA2580064453SCN2Ac.4407del (p.Ile1469MetfsTer5)
c.*2726del (n.*2726del)
c.*2394del (n.*2394del)
c.*4930del (n.*4930del)
c.*2349del (n.*2349del)
c.4011del (p.Ile1337MetfsTer5)
n.7475del
c.4377del (p.Ile1459MetfsTer5)
c.3654del (p.Ile1218MetfsTer5)
c.2205del (p.Ile735MetfsTer5)
 ClinVar
2g.165380689_165380692delinsATGTCA1139657283SCN2Ac.4406_4409delinsATGT (p.Ile1469_Gly1470delinsAsnVal)
c.*2725_*2728delinsATGT (n.*2725_*2728delinsATGT)
c.*2393_*2396delinsATGT (n.*2393_*2396delinsATGT)
c.*4929_*4932delinsATGT (n.*4929_*4932delinsATGT)
c.*2348_*2351delinsATGT (n.*2348_*2351delinsATGT)
c.4010_4013delinsATGT (p.Ile1337_Gly1338delinsAsnVal)
n.7474_7477delinsATGT
c.4376_4379delinsATGT (p.Ile1459_Gly1460delinsAsnVal)
c.3653_3656delinsATGT (p.Ile1218_Gly1219delinsAsnVal)
c.2204_2207delinsATGT (p.Ile735_Gly736delinsAsnVal)
 ClinVar dbSNP
2g.165380689_165380692delinsTTGGCA1304561047SCN2Ac.4406_4409delinsTTGG (p.Ile1469=)
c.*2725_*2728delinsTTGG (n.*2725_*2728delinsTTGG)
c.*2393_*2396delinsTTGG (n.*2393_*2396delinsTTGG)
c.*4929_*4932delinsTTGG (n.*4929_*4932delinsTTGG)
c.*2348_*2351delinsTTGG (n.*2348_*2351delinsTTGG)
c.4010_4013delinsTTGG (p.Ile1337=)
n.7474_7477delinsTTGG
c.4376_4379delinsTTGG (p.Ile1459=)
c.3653_3656delinsTTGG (p.Ile1218=)
c.2204_2207delinsTTGG (p.Ile735=)
2g.165380690T>ACA429888208SCN2Ac.4407T>A (p.Ile1469=)
c.*2726T>A (n.*2726T>A)
c.*2394T>A (n.*2394T>A)
c.*4930T>A (n.*4930T>A)
c.*2349T>A (n.*2349T>A)
c.4011T>A (p.Ile1337=)
n.7475T>A
c.4377T>A (p.Ile1459=)
c.3654T>A (p.Ile1218=)
c.2205T>A (p.Ile735=)
2g.165380690T>CCA429888209SCN2Ac.4407T>C (p.Ile1469=)
c.*2726T>C (n.*2726T>C)
c.*2394T>C (n.*2394T>C)
c.*4930T>C (n.*4930T>C)
c.*2349T>C (n.*2349T>C)
c.4011T>C (p.Ile1337=)
n.7475T>C
c.4377T>C (p.Ile1459=)
c.3654T>C (p.Ile1218=)
c.2205T>C (p.Ile735=)
2g.165380690T>GCA349034159SCN2Ac.4407T>G (p.Ile1469Met)
c.*2726T>G (n.*2726T>G)
c.*2394T>G (n.*2394T>G)
c.*4930T>G (n.*4930T>G)
c.*2349T>G (n.*2349T>G)
c.4011T>G (p.Ile1337Met)
n.7475T>G
c.4377T>G (p.Ile1459Met)
c.3654T>G (p.Ile1218Met)
c.2205T>G (p.Ile735Met)
2g.165380691G>ACA349034162SCN2Ac.4408G>A (p.Gly1470Ser)
c.*2727G>A (n.*2727G>A)
c.*2395G>A (n.*2395G>A)
c.*4931G>A (n.*4931G>A)
c.*2350G>A (n.*2350G>A)
c.4012G>A (p.Gly1338Ser)
n.7476G>A
c.4378G>A (p.Gly1460Ser)
c.3655G>A (p.Gly1219Ser)
c.2206G>A (p.Gly736Ser)
2g.165380691G>CCA349034164SCN2Ac.4408G>C (p.Gly1470Arg)
c.*2727G>C (n.*2727G>C)
c.*2395G>C (n.*2395G>C)
c.*4931G>C (n.*4931G>C)
c.*2350G>C (n.*2350G>C)
c.4012G>C (p.Gly1338Arg)
n.7476G>C
c.4378G>C (p.Gly1460Arg)
c.3655G>C (p.Gly1219Arg)
c.2206G>C (p.Gly736Arg)
2g.165380691G>TCA349034166SCN2Ac.4408G>T (p.Gly1470Cys)
c.*2727G>T (n.*2727G>T)
c.*2395G>T (n.*2395G>T)
c.*4931G>T (n.*4931G>T)
c.*2350G>T (n.*2350G>T)
c.4012G>T (p.Gly1338Cys)
n.7476G>T
c.4378G>T (p.Gly1460Cys)
c.3655G>T (p.Gly1219Cys)
c.2206G>T (p.Gly736Cys)
2g.165380692G>ACA1940272SCN2Ac.4409G>A (p.Gly1470Asp)
c.*2728G>A (n.*2728G>A)
c.*2396G>A (n.*2396G>A)
c.*4932G>A (n.*4932G>A)
c.*2351G>A (n.*2351G>A)
c.4013G>A (p.Gly1338Asp)
n.7477G>A
c.4379G>A (p.Gly1460Asp)
c.3656G>A (p.Gly1219Asp)
c.2207G>A (p.Gly736Asp)
 dbSNP ExAC gnomAD v2
2g.165380692G>CCA349034174SCN2Ac.4409G>C (p.Gly1470Ala)
c.*2728G>C (n.*2728G>C)
c.*2396G>C (n.*2396G>C)
c.*4932G>C (n.*4932G>C)
c.*2351G>C (n.*2351G>C)
c.4013G>C (p.Gly1338Ala)
n.7477G>C
c.4379G>C (p.Gly1460Ala)
c.3656G>C (p.Gly1219Ala)
c.2207G>C (p.Gly736Ala)
2g.165380692G=CA1304561048SCN2Ac.4409G= (p.Gly1470=)
c.*2728G= (n.*2728G=)
c.*2396G= (n.*2396G=)
c.*4932G= (n.*4932G=)
c.*2351G= (n.*2351G=)
c.4013G= (p.Gly1338=)
n.7477G=
c.4379G= (p.Gly1460=)
c.3656G= (p.Gly1219=)
c.2207G= (p.Gly736=)
2g.165380692G>TCA59746463SCN2Ac.4409G>T (p.Gly1470Val)
c.*2728G>T (n.*2728G>T)
c.*2396G>T (n.*2396G>T)
c.*4932G>T (n.*4932G>T)
c.*2351G>T (n.*2351G>T)
c.4013G>T (p.Gly1338Val)
n.7477G>T
c.4379G>T (p.Gly1460Val)
c.3656G>T (p.Gly1219Val)
c.2207G>T (p.Gly736Val)
 dbSNP gnomAD v4
2g.165380693T>ACA429888210SCN2Ac.4410T>A (p.Gly1470=)
c.*2729T>A (n.*2729T>A)
c.*2397T>A (n.*2397T>A)
c.*4933T>A (n.*4933T>A)
c.*2352T>A (n.*2352T>A)
c.4014T>A (p.Gly1338=)
n.7478T>A
c.4380T>A (p.Gly1460=)
c.3657T>A (p.Gly1219=)
c.2208T>A (p.Gly736=)
2g.165380693T>CCA429888211SCN2Ac.4410T>C (p.Gly1470=)
c.*2729T>C (n.*2729T>C)
c.*2397T>C (n.*2397T>C)
c.*4933T>C (n.*4933T>C)
c.*2352T>C (n.*2352T>C)
c.4014T>C (p.Gly1338=)
n.7478T>C
c.4380T>C (p.Gly1460=)
c.3657T>C (p.Gly1219=)
c.2208T>C (p.Gly736=)
2g.165380693T>GCA429888212SCN2Ac.4410T>G (p.Gly1470=)
c.*2729T>G (n.*2729T>G)
c.*2397T>G (n.*2397T>G)
c.*4933T>G (n.*4933T>G)
c.*2352T>G (n.*2352T>G)
c.4014T>G (p.Gly1338=)
n.7478T>G
c.4380T>G (p.Gly1460=)
c.3657T>G (p.Gly1219=)
c.2208T>G (p.Gly736=)
2g.165380694G>ACA349034176SCN2Ac.4411G>A (p.Val1471Ile)
c.*2730G>A (n.*2730G>A)
c.*2398G>A (n.*2398G>A)
c.*4934G>A (n.*4934G>A)
c.*2353G>A (n.*2353G>A)
c.4015G>A (p.Val1339Ile)
n.7479G>A
c.4381G>A (p.Val1461Ile)
c.3658G>A (p.Val1220Ile)
c.2209G>A (p.Val737Ile)
 gnomAD v4
2g.165380694G>CCA349034179SCN2Ac.4411G>C (p.Val1471Leu)
c.*2730G>C (n.*2730G>C)
c.*2398G>C (n.*2398G>C)
c.*4934G>C (n.*4934G>C)
c.*2353G>C (n.*2353G>C)
c.4015G>C (p.Val1339Leu)
n.7479G>C
c.4381G>C (p.Val1461Leu)
c.3658G>C (p.Val1220Leu)
c.2209G>C (p.Val737Leu)
2g.165380694G>TCA349034182SCN2Ac.4411G>T (p.Val1471Phe)
c.*2730G>T (n.*2730G>T)
c.*2398G>T (n.*2398G>T)
c.*4934G>T (n.*4934G>T)
c.*2353G>T (n.*2353G>T)
c.4015G>T (p.Val1339Phe)
n.7479G>T
c.4381G>T (p.Val1461Phe)
c.3658G>T (p.Val1220Phe)
c.2209G>T (p.Val737Phe)
2g.165380695T>ACA349034186SCN2Ac.4412T>A (p.Val1471Asp)
c.*2731T>A (n.*2731T>A)
c.*2399T>A (n.*2399T>A)
c.*4935T>A (n.*4935T>A)
c.*2354T>A (n.*2354T>A)
c.4016T>A (p.Val1339Asp)
n.7480T>A
c.4382T>A (p.Val1461Asp)
c.3659T>A (p.Val1220Asp)
c.2210T>A (p.Val737Asp)
2g.165380695T>CCA349034188SCN2Ac.4412T>C (p.Val1471Ala)
c.*2731T>C (n.*2731T>C)
c.*2399T>C (n.*2399T>C)
c.*4935T>C (n.*4935T>C)
c.*2354T>C (n.*2354T>C)
c.4016T>C (p.Val1339Ala)
n.7480T>C
c.4382T>C (p.Val1461Ala)
c.3659T>C (p.Val1220Ala)
c.2210T>C (p.Val737Ala)
2g.165380695T>GCA349034191SCN2Ac.4412T>G (p.Val1471Gly)
c.*2731T>G (n.*2731T>G)
c.*2399T>G (n.*2399T>G)
c.*4935T>G (n.*4935T>G)
c.*2354T>G (n.*2354T>G)
c.4016T>G (p.Val1339Gly)
n.7480T>G
c.4382T>G (p.Val1461Gly)
c.3659T>G (p.Val1220Gly)
c.2210T>G (p.Val737Gly)
2g.165380696C>ACA429888213SCN2Ac.4413C>A (p.Val1471=)
c.*2732C>A (n.*2732C>A)
c.*2400C>A (n.*2400C>A)
c.*4936C>A (n.*4936C>A)
c.*2355C>A (n.*2355C>A)
c.4017C>A (p.Val1339=)
n.7481C>A
c.4383C>A (p.Val1461=)
c.3660C>A (p.Val1220=)
c.2211C>A (p.Val737=)
 gnomAD v4
2g.165380696C>GCA429888214SCN2Ac.4413C>G (p.Val1471=)
c.*2732C>G (n.*2732C>G)
c.*2400C>G (n.*2400C>G)
c.*4936C>G (n.*4936C>G)
c.*2355C>G (n.*2355C>G)
c.4017C>G (p.Val1339=)
n.7481C>G
c.4383C>G (p.Val1461=)
c.3660C>G (p.Val1220=)
c.2211C>G (p.Val737=)
2g.165380696C>TCA429888215SCN2Ac.4413C>T (p.Val1471=)
c.*2732C>T (n.*2732C>T)
c.*2400C>T (n.*2400C>T)
c.*4936C>T (n.*4936C>T)
c.*2355C>T (n.*2355C>T)
c.4017C>T (p.Val1339=)
n.7481C>T
c.4383C>T (p.Val1461=)
c.3660C>T (p.Val1220=)
c.2211C>T (p.Val737=)
2g.165380697A=CA1304561049SCN2Ac.4414A= (p.Ile1472=)
c.*2733A= (n.*2733A=)
c.*2401A= (n.*2401A=)
c.*4937A= (n.*4937A=)
c.*2356A= (n.*2356A=)
c.4018A= (p.Ile1340=)
n.7482A=
c.4384A= (p.Ile1462=)
c.3661A= (p.Ile1221=)
c.2212A= (p.Ile738=)
2g.165380697A>CCA349034195SCN2Ac.4414A>C (p.Ile1472Leu)
c.*2733A>C (n.*2733A>C)
c.*2401A>C (n.*2401A>C)
c.*4937A>C (n.*4937A>C)
c.*2356A>C (n.*2356A>C)
c.4018A>C (p.Ile1340Leu)
n.7482A>C
c.4384A>C (p.Ile1462Leu)
c.3661A>C (p.Ile1221Leu)
c.2212A>C (p.Ile738Leu)
2g.165380697A>GCA1940273SCN2Ac.4414A>G (p.Ile1472Val)
c.*2733A>G (n.*2733A>G)
c.*2401A>G (n.*2401A>G)
c.*4937A>G (n.*4937A>G)
c.*2356A>G (n.*2356A>G)
c.4018A>G (p.Ile1340Val)
n.7482A>G
c.4384A>G (p.Ile1462Val)
c.3661A>G (p.Ile1221Val)
c.2212A>G (p.Ile738Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165380697A>TCA349034197SCN2Ac.4414A>T (p.Ile1472Phe)
c.*2733A>T (n.*2733A>T)
c.*2401A>T (n.*2401A>T)
c.*4937A>T (n.*4937A>T)
c.*2356A>T (n.*2356A>T)
c.4018A>T (p.Ile1340Phe)
n.7482A>T
c.4384A>T (p.Ile1462Phe)
c.3661A>T (p.Ile1221Phe)
c.2212A>T (p.Ile738Phe)
2g.165380698T>ACA349034202SCN2Ac.4415T>A (p.Ile1472Asn)
c.*2734T>A (n.*2734T>A)
c.*2402T>A (n.*2402T>A)
c.*4938T>A (n.*4938T>A)
c.*2357T>A (n.*2357T>A)
c.4019T>A (p.Ile1340Asn)
n.7483T>A
c.4385T>A (p.Ile1462Asn)
c.3662T>A (p.Ile1221Asn)
c.2213T>A (p.Ile738Asn)
2g.165380698T>CCA349034205SCN2Ac.4415T>C (p.Ile1472Thr)
c.*2734T>C (n.*2734T>C)
c.*2402T>C (n.*2402T>C)
c.*4938T>C (n.*4938T>C)
c.*2357T>C (n.*2357T>C)
c.4019T>C (p.Ile1340Thr)
n.7483T>C
c.4385T>C (p.Ile1462Thr)
c.3662T>C (p.Ile1221Thr)
c.2213T>C (p.Ile738Thr)
2g.165380698T>GCA349034208SCN2Ac.4415T>G (p.Ile1472Ser)
c.*2734T>G (n.*2734T>G)
c.*2402T>G (n.*2402T>G)
c.*4938T>G (n.*4938T>G)
c.*2357T>G (n.*2357T>G)
c.4019T>G (p.Ile1340Ser)
n.7483T>G
c.4385T>G (p.Ile1462Ser)
c.3662T>G (p.Ile1221Ser)
c.2213T>G (p.Ile738Ser)
2g.165380699C>ACA429888217SCN2Ac.4416C>A (p.Ile1472=)
c.*2735C>A (n.*2735C>A)
c.*2403C>A (n.*2403C>A)
c.*4939C>A (n.*4939C>A)
c.*2358C>A (n.*2358C>A)
c.4020C>A (p.Ile1340=)
n.7484C>A
c.4386C>A (p.Ile1462=)
c.3663C>A (p.Ile1221=)
c.2214C>A (p.Ile738=)
 gnomAD v4
2g.165380699C>GCA349034210SCN2Ac.4416C>G (p.Ile1472Met)
c.*2735C>G (n.*2735C>G)
c.*2403C>G (n.*2403C>G)
c.*4939C>G (n.*4939C>G)
c.*2358C>G (n.*2358C>G)
c.4020C>G (p.Ile1340Met)
n.7484C>G
c.4386C>G (p.Ile1462Met)
c.3663C>G (p.Ile1221Met)
c.2214C>G (p.Ile738Met)
2g.165380699C>TCA429888216SCN2Ac.4416C>T (p.Ile1472=)
c.*2735C>T (n.*2735C>T)
c.*2403C>T (n.*2403C>T)
c.*4939C>T (n.*4939C>T)
c.*2358C>T (n.*2358C>T)
c.4020C>T (p.Ile1340=)
n.7484C>T
c.4386C>T (p.Ile1462=)
c.3663C>T (p.Ile1221=)
c.2214C>T (p.Ile738=)
2g.165380700A>CCA349034213SCN2Ac.4417A>C (p.Ile1473Leu)
c.*2736A>C (n.*2736A>C)
c.*2404A>C (n.*2404A>C)
c.*4940A>C (n.*4940A>C)
c.*2359A>C (n.*2359A>C)
c.4021A>C (p.Ile1341Leu)
n.7485A>C
c.4387A>C (p.Ile1463Leu)
c.3664A>C (p.Ile1222Leu)
c.2215A>C (p.Ile739Leu)
2g.165380700A>GCA349034219SCN2Ac.4417A>G (p.Ile1473Val)
c.*2736A>G (n.*2736A>G)
c.*2404A>G (n.*2404A>G)
c.*4940A>G (n.*4940A>G)
c.*2359A>G (n.*2359A>G)
c.4021A>G (p.Ile1341Val)
n.7485A>G
c.4387A>G (p.Ile1463Val)
c.3664A>G (p.Ile1222Val)
c.2215A>G (p.Ile739Val)
2g.165380700A>TCA349034216SCN2Ac.4417A>T (p.Ile1473Leu)
c.*2736A>T (n.*2736A>T)
c.*2404A>T (n.*2404A>T)
c.*4940A>T (n.*4940A>T)
c.*2359A>T (n.*2359A>T)
c.4021A>T (p.Ile1341Leu)
n.7485A>T
c.4387A>T (p.Ile1463Leu)
c.3664A>T (p.Ile1222Leu)
c.2215A>T (p.Ile739Leu)
2g.165380701T>ACA349034222SCN2Ac.4418T>A (p.Ile1473Lys)
c.*2737T>A (n.*2737T>A)
c.*2405T>A (n.*2405T>A)
c.*4941T>A (n.*4941T>A)
c.*2360T>A (n.*2360T>A)
c.4022T>A (p.Ile1341Lys)
n.7486T>A
c.4388T>A (p.Ile1463Lys)
c.3665T>A (p.Ile1222Lys)
c.2216T>A (p.Ile739Lys)
2g.165380701T>CCA349034225SCN2Ac.4418T>C (p.Ile1473Thr)
c.*2737T>C (n.*2737T>C)
c.*2405T>C (n.*2405T>C)
c.*4941T>C (n.*4941T>C)
c.*2360T>C (n.*2360T>C)
c.4022T>C (p.Ile1341Thr)
n.7486T>C
c.4388T>C (p.Ile1463Thr)
c.3665T>C (p.Ile1222Thr)
c.2216T>C (p.Ile739Thr)
 ClinVar dbSNP gnomAD v4
2g.165380701T>GCA349034228SCN2Ac.4418T>G (p.Ile1473Arg)
c.*2737T>G (n.*2737T>G)
c.*2405T>G (n.*2405T>G)
c.*4941T>G (n.*4941T>G)
c.*2360T>G (n.*2360T>G)
c.4022T>G (p.Ile1341Arg)
n.7486T>G
c.4388T>G (p.Ile1463Arg)
c.3665T>G (p.Ile1222Arg)
c.2216T>G (p.Ile739Arg)
2g.165380701T=CA1304561050SCN2Ac.4418T= (p.Ile1473=)
c.*2737T= (n.*2737T=)
c.*2405T= (n.*2405T=)
c.*4941T= (n.*4941T=)
c.*2360T= (n.*2360T=)
c.4022T= (p.Ile1341=)
n.7486T=
c.4388T= (p.Ile1463=)
c.3665T= (p.Ile1222=)
c.2216T= (p.Ile739=)

Number of alleles fetched