Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165344612_165344622delinsATTGGCAATTCCA1304545460SCN2Ac.2620_2630delinsATTGGCAATTC (p.Ile874=)
c.*939_*949delinsATTGGCAATTC (n.*939_*949delinsATTGGCAATTC)
c.*607_*617delinsATTGGCAATTC (n.*607_*617delinsATTGGCAATTC)
c.*3143_*3153delinsATTGGCAATTC (n.*3143_*3153delinsATTGGCAATTC)
c.*562_*572delinsATTGGCAATTC (n.*562_*572delinsATTGGCAATTC)
c.2224_2234delinsATTGGCAATTC (p.Ile742=)
c.58_68delinsATTGGCAATTC (p.Ile20=)
c.471_481delinsATTGGCAATTC
n.2763_2773delinsATTGGCAATTC
c.2590_2600delinsATTGGCAATTC (p.Ile864=)
c.1867_1877delinsATTGGCAATTC (p.Ile623=)
c.418_428delinsATTGGCAATTC (p.Ile140=)
2g.165344614_165344623delCA16617265SCN2Ac.2622_2631del (p.Ile874MetfsTer5)
c.*941_*950del (n.*941_*950del)
c.*609_*618del (n.*609_*618del)
c.*3145_*3154del (n.*3145_*3154del)
c.*564_*573del (n.*564_*573del)
c.2226_2235del (p.Ile742MetfsTer5)
c.60_69del (p.Ile20MetfsTer5)
c.473_482del
n.2765_2774del
c.2592_2601del (p.Ile864MetfsTer5)
c.1869_1878del (p.Ile623MetfsTer5)
c.420_429del (p.Ile140MetfsTer5)
 ClinVar dbSNP
2g.165344620T>ACA349013394SCN2Ac.2628T>A (p.Asn876Lys)
c.*947T>A (n.*947T>A)
c.*615T>A (n.*615T>A)
c.*3151T>A (n.*3151T>A)
c.*570T>A (n.*570T>A)
c.2232T>A (p.Asn744Lys)
c.66T>A (p.Asn22Lys)
c.479T>A
n.2771T>A
c.2598T>A (p.Asn866Lys)
c.1875T>A (p.Asn625Lys)
c.426T>A (p.Asn142Lys)
2g.165344620T>CCA429885373SCN2Ac.2628T>C (p.Asn876=)
c.*947T>C (n.*947T>C)
c.*615T>C (n.*615T>C)
c.*3151T>C (n.*3151T>C)
c.*570T>C (n.*570T>C)
c.2232T>C (p.Asn744=)
c.66T>C (p.Asn22=)
c.479T>C
n.2771T>C
c.2598T>C (p.Asn866=)
c.1875T>C (p.Asn625=)
c.426T>C (p.Asn142=)
2g.165344620T>GCA349013399SCN2Ac.2628T>G (p.Asn876Lys)
c.*947T>G (n.*947T>G)
c.*615T>G (n.*615T>G)
c.*3151T>G (n.*3151T>G)
c.*570T>G (n.*570T>G)
c.2232T>G (p.Asn744Lys)
c.66T>G (p.Asn22Lys)
c.479T>G
n.2771T>G
c.2598T>G (p.Asn866Lys)
c.1875T>G (p.Asn625Lys)
c.426T>G (p.Asn142Lys)
2g.165344621T>ACA349013400SCN2Ac.2629T>A (p.Ser877Thr)
c.*948T>A (n.*948T>A)
c.*616T>A (n.*616T>A)
c.*3152T>A (n.*3152T>A)
c.*571T>A (n.*571T>A)
c.2233T>A (p.Ser745Thr)
c.67T>A (p.Ser23Thr)
c.480T>A
n.2772T>A
c.2599T>A (p.Ser867Thr)
c.1876T>A (p.Ser626Thr)
c.427T>A (p.Ser143Thr)
2g.165344621T>CCA349013404SCN2Ac.2629T>C (p.Ser877Pro)
c.*948T>C (n.*948T>C)
c.*616T>C (n.*616T>C)
c.*3152T>C (n.*3152T>C)
c.*571T>C (n.*571T>C)
c.2233T>C (p.Ser745Pro)
c.67T>C (p.Ser23Pro)
c.480T>C
n.2772T>C
c.2599T>C (p.Ser867Pro)
c.1876T>C (p.Ser626Pro)
c.427T>C (p.Ser143Pro)
2g.165344621T>GCA349013402SCN2Ac.2629T>G (p.Ser877Ala)
c.*948T>G (n.*948T>G)
c.*616T>G (n.*616T>G)
c.*3152T>G (n.*3152T>G)
c.*571T>G (n.*571T>G)
c.2233T>G (p.Ser745Ala)
c.67T>G (p.Ser23Ala)
c.480T>G
n.2772T>G
c.2599T>G (p.Ser867Ala)
c.1876T>G (p.Ser626Ala)
c.427T>G (p.Ser143Ala)
2g.165344622C>ACA349013406SCN2Ac.2630C>A (p.Ser877Tyr)
c.*949C>A (n.*949C>A)
c.*617C>A (n.*617C>A)
c.*3153C>A (n.*3153C>A)
c.*572C>A (n.*572C>A)
c.2234C>A (p.Ser745Tyr)
c.68C>A (p.Ser23Tyr)
c.481C>A
n.2773C>A
c.2600C>A (p.Ser867Tyr)
c.1877C>A (p.Ser626Tyr)
c.428C>A (p.Ser143Tyr)
2g.165344622C>GCA349013408SCN2Ac.2630C>G (p.Ser877Cys)
c.*949C>G (n.*949C>G)
c.*617C>G (n.*617C>G)
c.*3153C>G (n.*3153C>G)
c.*572C>G (n.*572C>G)
c.2234C>G (p.Ser745Cys)
c.68C>G (p.Ser23Cys)
c.481C>G
n.2773C>G
c.2600C>G (p.Ser867Cys)
c.1877C>G (p.Ser626Cys)
c.428C>G (p.Ser143Cys)
2g.165344622C>TCA349013409SCN2Ac.2630C>T (p.Ser877Phe)
c.*949C>T (n.*949C>T)
c.*617C>T (n.*617C>T)
c.*3153C>T (n.*3153C>T)
c.*572C>T (n.*572C>T)
c.2234C>T (p.Ser745Phe)
c.68C>T (p.Ser23Phe)
c.481C>T
n.2773C>T
c.2600C>T (p.Ser867Phe)
c.1877C>T (p.Ser626Phe)
c.428C>T (p.Ser143Phe)
2g.165344623T>ACA429885374SCN2Ac.2631T>A (p.Ser877=)
c.*950T>A (n.*950T>A)
c.*618T>A (n.*618T>A)
c.*3154T>A (n.*3154T>A)
c.*573T>A (n.*573T>A)
c.2235T>A (p.Ser745=)
c.69T>A (p.Ser23=)
c.482T>A
n.2774T>A
c.2601T>A (p.Ser867=)
c.1878T>A (p.Ser626=)
c.429T>A (p.Ser143=)
2g.165344623T>CCA429885375SCN2Ac.2631T>C (p.Ser877=)
c.*950T>C (n.*950T>C)
c.*618T>C (n.*618T>C)
c.*3154T>C (n.*3154T>C)
c.*573T>C (n.*573T>C)
c.2235T>C (p.Ser745=)
c.69T>C (p.Ser23=)
c.482T>C
n.2774T>C
c.2601T>C (p.Ser867=)
c.1878T>C (p.Ser626=)
c.429T>C (p.Ser143=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165344623T>GCA429885376SCN2Ac.2631T>G (p.Ser877=)
c.*950T>G (n.*950T>G)
c.*618T>G (n.*618T>G)
c.*3154T>G (n.*3154T>G)
c.*573T>G (n.*573T>G)
c.2235T>G (p.Ser745=)
c.69T>G (p.Ser23=)
c.482T>G
n.2774T>G
c.2601T>G (p.Ser867=)
c.1878T>G (p.Ser626=)
c.429T>G (p.Ser143=)
2g.165344623T=CA1304545465SCN2Ac.2631T= (p.Ser877=)
c.*950T= (n.*950T=)
c.*618T= (n.*618T=)
c.*3154T= (n.*3154T=)
c.*573T= (n.*573T=)
c.2235T= (p.Ser745=)
c.69T= (p.Ser23=)
c.482T=
n.2774T=
c.2601T= (p.Ser867=)
c.1878T= (p.Ser626=)
c.429T= (p.Ser143=)
2g.165344624G>ACA349013412SCN2Ac.2632G>A (p.Val878Met)
c.*951G>A (n.*951G>A)
c.*619G>A (n.*619G>A)
c.*3155G>A (n.*3155G>A)
c.*574G>A (n.*574G>A)
c.2236G>A (p.Val746Met)
c.70G>A (p.Val24Met)
c.483G>A
n.2775G>A
c.2602G>A (p.Val868Met)
c.1879G>A (p.Val627Met)
c.430G>A (p.Val144Met)
 dbSNP
2g.165344624G>CCA349013414SCN2Ac.2632G>C (p.Val878Leu)
c.*951G>C (n.*951G>C)
c.*619G>C (n.*619G>C)
c.*3155G>C (n.*3155G>C)
c.*574G>C (n.*574G>C)
c.2236G>C (p.Val746Leu)
c.70G>C (p.Val24Leu)
c.483G>C
n.2775G>C
c.2602G>C (p.Val868Leu)
c.1879G>C (p.Val627Leu)
c.430G>C (p.Val144Leu)
2g.165344624G=CA1304545466SCN2Ac.2632G= (p.Val878=)
c.*951G= (n.*951G=)
c.*619G= (n.*619G=)
c.*3155G= (n.*3155G=)
c.*574G= (n.*574G=)
c.2236G= (p.Val746=)
c.70G= (p.Val24=)
c.483G=
n.2775G=
c.2602G= (p.Val868=)
c.1879G= (p.Val627=)
c.430G= (p.Val144=)
2g.165344624G>TCA349013416SCN2Ac.2632G>T (p.Val878Leu)
c.*951G>T (n.*951G>T)
c.*619G>T (n.*619G>T)
c.*3155G>T (n.*3155G>T)
c.*574G>T (n.*574G>T)
c.2236G>T (p.Val746Leu)
c.70G>T (p.Val24Leu)
c.483G>T
n.2775G>T
c.2602G>T (p.Val868Leu)
c.1879G>T (p.Val627Leu)
c.430G>T (p.Val144Leu)
2g.165344625T>ACA349013418SCN2Ac.2633T>A (p.Val878Glu)
c.*952T>A (n.*952T>A)
c.*620T>A (n.*620T>A)
c.*3156T>A (n.*3156T>A)
c.*575T>A (n.*575T>A)
c.2237T>A (p.Val746Glu)
c.71T>A (p.Val24Glu)
c.484T>A
n.2776T>A
c.2603T>A (p.Val868Glu)
c.1880T>A (p.Val627Glu)
c.431T>A (p.Val144Glu)
2g.165344625T>CCA349013419SCN2Ac.2633T>C (p.Val878Ala)
c.*952T>C (n.*952T>C)
c.*620T>C (n.*620T>C)
c.*3156T>C (n.*3156T>C)
c.*575T>C (n.*575T>C)
c.2237T>C (p.Val746Ala)
c.71T>C (p.Val24Ala)
c.484T>C
n.2776T>C
c.2603T>C (p.Val868Ala)
c.1880T>C (p.Val627Ala)
c.431T>C (p.Val144Ala)
2g.165344625T>GCA349013420SCN2Ac.2633T>G (p.Val878Gly)
c.*952T>G (n.*952T>G)
c.*620T>G (n.*620T>G)
c.*3156T>G (n.*3156T>G)
c.*575T>G (n.*575T>G)
c.2237T>G (p.Val746Gly)
c.71T>G (p.Val24Gly)
c.484T>G
n.2776T>G
c.2603T>G (p.Val868Gly)
c.1880T>G (p.Val627Gly)
c.431T>G (p.Val144Gly)
2g.165344626G>ACA429885377SCN2Ac.2634G>A (p.Val878=)
c.*953G>A (n.*953G>A)
c.*621G>A (n.*621G>A)
c.*3157G>A (n.*3157G>A)
c.*576G>A (n.*576G>A)
c.2238G>A (p.Val746=)
c.72G>A (p.Val24=)
c.485G>A
n.2777G>A
c.2604G>A (p.Val868=)
c.1881G>A (p.Val627=)
c.432G>A (p.Val144=)
2g.165344626G>CCA429885378SCN2Ac.2634G>C (p.Val878=)
c.*953G>C (n.*953G>C)
c.*621G>C (n.*621G>C)
c.*3157G>C (n.*3157G>C)
c.*576G>C (n.*576G>C)
c.2238G>C (p.Val746=)
c.72G>C (p.Val24=)
c.485G>C
n.2777G>C
c.2604G>C (p.Val868=)
c.1881G>C (p.Val627=)
c.432G>C (p.Val144=)
2g.165344626G>TCA429885379SCN2Ac.2634G>T (p.Val878=)
c.*953G>T (n.*953G>T)
c.*621G>T (n.*621G>T)
c.*3157G>T (n.*3157G>T)
c.*576G>T (n.*576G>T)
c.2238G>T (p.Val746=)
c.72G>T (p.Val24=)
c.485G>T
n.2777G>T
c.2604G>T (p.Val868=)
c.1881G>T (p.Val627=)
c.432G>T (p.Val144=)
2g.165344626_165344627delinsTCCA2580064222SCN2Ac.2634_2635delinsTC (p.Gly879Arg)
c.*953_*954delinsTC (n.*953_*954delinsTC)
c.*621_*622delinsTC (n.*621_*622delinsTC)
c.*3157_*3158delinsTC (n.*3157_*3158delinsTC)
c.*576_*577delinsTC (n.*576_*577delinsTC)
c.2238_2239delinsTC (p.Gly747Arg)
c.72_73delinsTC (p.Gly25Arg)
c.485_486delinsTC
n.2777_2778delinsTC
c.2604_2605delinsTC (p.Gly869Arg)
c.1881_1882delinsTC (p.Gly628Arg)
c.432_433delinsTC (p.Gly145Arg)
 ClinVar
2g.165344627G>ACA317877SCN2Ac.2635G>A (p.Gly879Arg)
c.*954G>A (n.*954G>A)
c.*622G>A (n.*622G>A)
c.*3158G>A (n.*3158G>A)
c.*577G>A (n.*577G>A)
c.2239G>A (p.Gly747Arg)
c.73G>A (p.Gly25Arg)
c.486G>A
n.2778G>A
c.2605G>A (p.Gly869Arg)
c.1882G>A (p.Gly628Arg)
c.433G>A (p.Gly145Arg)
 ClinVar dbSNP
2g.165344627G>CCA349013421SCN2Ac.2635G>C (p.Gly879Arg)
c.*954G>C (n.*954G>C)
c.*622G>C (n.*622G>C)
c.*3158G>C (n.*3158G>C)
c.*577G>C (n.*577G>C)
c.2239G>C (p.Gly747Arg)
c.73G>C (p.Gly25Arg)
c.486G>C
n.2778G>C
c.2605G>C (p.Gly869Arg)
c.1882G>C (p.Gly628Arg)
c.433G>C (p.Gly145Arg)
2g.165344627G=CA1304545467SCN2Ac.2635G= (p.Gly879=)
c.*954G= (n.*954G=)
c.*622G= (n.*622G=)
c.*3158G= (n.*3158G=)
c.*577G= (n.*577G=)
c.2239G= (p.Gly747=)
c.73G= (p.Gly25=)
c.486G=
n.2778G=
c.2605G= (p.Gly869=)
c.1882G= (p.Gly628=)
c.433G= (p.Gly145=)
2g.165344627G>TCA349013422SCN2Ac.2635G>T (p.Gly879Trp)
c.*954G>T (n.*954G>T)
c.*622G>T (n.*622G>T)
c.*3158G>T (n.*3158G>T)
c.*577G>T (n.*577G>T)
c.2239G>T (p.Gly747Trp)
c.73G>T (p.Gly25Trp)
c.486G>T
n.2778G>T
c.2605G>T (p.Gly869Trp)
c.1882G>T (p.Gly628Trp)
c.433G>T (p.Gly145Trp)
2g.165344628G>ACA349013427SCN2Ac.2636G>A (p.Gly879Glu)
c.*955G>A (n.*955G>A)
c.*623G>A (n.*623G>A)
c.*3159G>A (n.*3159G>A)
c.*578G>A (n.*578G>A)
c.2240G>A (p.Gly747Glu)
c.74G>A (p.Gly25Glu)
c.487G>A
n.2779G>A
c.2606G>A (p.Gly869Glu)
c.1883G>A (p.Gly628Glu)
c.434G>A (p.Gly145Glu)
 COSMIC COSMIC
2g.165344628G>CCA349013425SCN2Ac.2636G>C (p.Gly879Ala)
c.*955G>C (n.*955G>C)
c.*623G>C (n.*623G>C)
c.*3159G>C (n.*3159G>C)
c.*578G>C (n.*578G>C)
c.2240G>C (p.Gly747Ala)
c.74G>C (p.Gly25Ala)
c.487G>C
n.2779G>C
c.2606G>C (p.Gly869Ala)
c.1883G>C (p.Gly628Ala)
c.434G>C (p.Gly145Ala)
 ClinVar dbSNP
2g.165344628G=CA1304545468SCN2Ac.2636G= (p.Gly879=)
c.*955G= (n.*955G=)
c.*623G= (n.*623G=)
c.*3159G= (n.*3159G=)
c.*578G= (n.*578G=)
c.2240G= (p.Gly747=)
c.74G= (p.Gly25=)
c.487G=
n.2779G=
c.2606G= (p.Gly869=)
c.1883G= (p.Gly628=)
c.434G= (p.Gly145=)
2g.165344628G>TCA349013426SCN2Ac.2636G>T (p.Gly879Val)
c.*955G>T (n.*955G>T)
c.*623G>T (n.*623G>T)
c.*3159G>T (n.*3159G>T)
c.*578G>T (n.*578G>T)
c.2240G>T (p.Gly747Val)
c.74G>T (p.Gly25Val)
c.487G>T
n.2779G>T
c.2606G>T (p.Gly869Val)
c.1883G>T (p.Gly628Val)
c.434G>T (p.Gly145Val)
 ClinVar dbSNP
2g.165344629G>ACA429885380SCN2Ac.2637G>A (p.Gly879=)
c.*956G>A (n.*956G>A)
c.*624G>A (n.*624G>A)
c.*3160G>A (n.*3160G>A)
c.*579G>A (n.*579G>A)
c.2241G>A (p.Gly747=)
c.75G>A (p.Gly25=)
c.488G>A
n.2780G>A
c.2607G>A (p.Gly869=)
c.1884G>A (p.Gly628=)
c.435G>A (p.Gly145=)
 dbSNP gnomAD v2 gnomAD v4
2g.165344629G>CCA429885381SCN2Ac.2637G>C (p.Gly879=)
c.*956G>C (n.*956G>C)
c.*624G>C (n.*624G>C)
c.*3160G>C (n.*3160G>C)
c.*579G>C (n.*579G>C)
c.2241G>C (p.Gly747=)
c.75G>C (p.Gly25=)
c.488G>C
n.2780G>C
c.2607G>C (p.Gly869=)
c.1884G>C (p.Gly628=)
c.435G>C (p.Gly145=)
 ClinVar dbSNP
2g.165344629G=CA1304545469SCN2Ac.2637G= (p.Gly879=)
c.*956G= (n.*956G=)
c.*624G= (n.*624G=)
c.*3160G= (n.*3160G=)
c.*579G= (n.*579G=)
c.2241G= (p.Gly747=)
c.75G= (p.Gly25=)
c.488G=
n.2780G=
c.2607G= (p.Gly869=)
c.1884G= (p.Gly628=)
c.435G= (p.Gly145=)
2g.165344629G>TCA429885382SCN2Ac.2637G>T (p.Gly879=)
c.*956G>T (n.*956G>T)
c.*624G>T (n.*624G>T)
c.*3160G>T (n.*3160G>T)
c.*579G>T (n.*579G>T)
c.2241G>T (p.Gly747=)
c.75G>T (p.Gly25=)
c.488G>T
n.2780G>T
c.2607G>T (p.Gly869=)
c.1884G>T (p.Gly628=)
c.435G>T (p.Gly145=)
 ClinVar
2g.165344630G>ACA349013428SCN2Ac.2638G>A (p.Ala880Thr)
c.*957G>A (n.*957G>A)
c.*625G>A (n.*625G>A)
c.*3161G>A (n.*3161G>A)
c.*580G>A (n.*580G>A)
c.2242G>A (p.Ala748Thr)
c.76G>A (p.Ala26Thr)
c.489G>A
n.2781G>A
c.2608G>A (p.Ala870Thr)
c.1885G>A (p.Ala629Thr)
c.436G>A (p.Ala146Thr)
 ClinVar dbSNP
2g.165344630G>CCA349013429SCN2Ac.2638G>C (p.Ala880Pro)
c.*957G>C (n.*957G>C)
c.*625G>C (n.*625G>C)
c.*3161G>C (n.*3161G>C)
c.*580G>C (n.*580G>C)
c.2242G>C (p.Ala748Pro)
c.76G>C (p.Ala26Pro)
c.489G>C
n.2781G>C
c.2608G>C (p.Ala870Pro)
c.1885G>C (p.Ala629Pro)
c.436G>C (p.Ala146Pro)
2g.165344630G=CA1304545470SCN2Ac.2638G= (p.Ala880=)
c.*957G= (n.*957G=)
c.*625G= (n.*625G=)
c.*3161G= (n.*3161G=)
c.*580G= (n.*580G=)
c.2242G= (p.Ala748=)
c.76G= (p.Ala26=)
c.489G=
n.2781G=
c.2608G= (p.Ala870=)
c.1885G= (p.Ala629=)
c.436G= (p.Ala146=)
2g.165344630G>TCA349013430SCN2Ac.2638G>T (p.Ala880Ser)
c.*957G>T (n.*957G>T)
c.*625G>T (n.*625G>T)
c.*3161G>T (n.*3161G>T)
c.*580G>T (n.*580G>T)
c.2242G>T (p.Ala748Ser)
c.76G>T (p.Ala26Ser)
c.489G>T
n.2781G>T
c.2608G>T (p.Ala870Ser)
c.1885G>T (p.Ala629Ser)
c.436G>T (p.Ala146Ser)
 ClinVar dbSNP
2g.165344631delCA2753007923SCN2Ac.2639del (p.Ala880ValfsTer2)
c.*958del (n.*958del)
c.*626del (n.*626del)
c.*3162del (n.*3162del)
c.*581del (n.*581del)
c.2243del (p.Ala748ValfsTer2)
c.77del (p.Ala26ValfsTer2)
c.490del
n.2782del
c.2609del (p.Ala870ValfsTer2)
c.1886del (p.Ala629ValfsTer2)
c.437del (p.Ala146ValfsTer2)
2g.165344631C>ACA349013433SCN2Ac.2639C>A (p.Ala880Asp)
c.*958C>A (n.*958C>A)
c.*626C>A (n.*626C>A)
c.*3162C>A (n.*3162C>A)
c.*581C>A (n.*581C>A)
c.2243C>A (p.Ala748Asp)
c.77C>A (p.Ala26Asp)
c.490C>A
n.2782C>A
c.2609C>A (p.Ala870Asp)
c.1886C>A (p.Ala629Asp)
c.437C>A (p.Ala146Asp)
2g.165344631C>GCA349013434SCN2Ac.2639C>G (p.Ala880Gly)
c.*958C>G (n.*958C>G)
c.*626C>G (n.*626C>G)
c.*3162C>G (n.*3162C>G)
c.*581C>G (n.*581C>G)
c.2243C>G (p.Ala748Gly)
c.77C>G (p.Ala26Gly)
c.490C>G
n.2782C>G
c.2609C>G (p.Ala870Gly)
c.1886C>G (p.Ala629Gly)
c.437C>G (p.Ala146Gly)
2g.165344631C>TCA349013436SCN2Ac.2639C>T (p.Ala880Val)
c.*958C>T (n.*958C>T)
c.*626C>T (n.*626C>T)
c.*3162C>T (n.*3162C>T)
c.*581C>T (n.*581C>T)
c.2243C>T (p.Ala748Val)
c.77C>T (p.Ala26Val)
c.490C>T
n.2782C>T
c.2609C>T (p.Ala870Val)
c.1886C>T (p.Ala629Val)
c.437C>T (p.Ala146Val)
2g.165344632T>ACA429885383SCN2Ac.2640T>A (p.Ala880=)
c.*959T>A (n.*959T>A)
c.*627T>A (n.*627T>A)
c.*3163T>A (n.*3163T>A)
c.*582T>A (n.*582T>A)
c.2244T>A (p.Ala748=)
c.78T>A (p.Ala26=)
c.491T>A
n.2783T>A
c.2610T>A (p.Ala870=)
c.1887T>A (p.Ala629=)
c.438T>A (p.Ala146=)
2g.165344632T>CCA429885384SCN2Ac.2640T>C (p.Ala880=)
c.*959T>C (n.*959T>C)
c.*627T>C (n.*627T>C)
c.*3163T>C (n.*3163T>C)
c.*582T>C (n.*582T>C)
c.2244T>C (p.Ala748=)
c.78T>C (p.Ala26=)
c.491T>C
n.2783T>C
c.2610T>C (p.Ala870=)
c.1887T>C (p.Ala629=)
c.438T>C (p.Ala146=)
2g.165344632T>GCA429885385SCN2Ac.2640T>G (p.Ala880=)
c.*959T>G (n.*959T>G)
c.*627T>G (n.*627T>G)
c.*3163T>G (n.*3163T>G)
c.*582T>G (n.*582T>G)
c.2244T>G (p.Ala748=)
c.78T>G (p.Ala26=)
c.491T>G
n.2783T>G
c.2610T>G (p.Ala870=)
c.1887T>G (p.Ala629=)
c.438T>G (p.Ala146=)
2g.165344633C>ACA349013438SCN2Ac.2641C>A (p.Leu881Ile)
c.*960C>A (n.*960C>A)
c.*628C>A (n.*628C>A)
c.*3164C>A (n.*3164C>A)
c.*583C>A (n.*583C>A)
c.2245C>A (p.Leu749Ile)
c.79C>A (p.Leu27Ile)
c.492C>A
n.2784C>A
c.2611C>A (p.Leu871Ile)
c.1888C>A (p.Leu630Ile)
c.439C>A (p.Leu147Ile)
2g.165344633C=CA1304545471SCN2Ac.2641C= (p.Leu881=)
c.*960C= (n.*960C=)
c.*628C= (n.*628C=)
c.*3164C= (n.*3164C=)
c.*583C= (n.*583C=)
c.2245C= (p.Leu749=)
c.79C= (p.Leu27=)
c.492C=
n.2784C=
c.2611C= (p.Leu871=)
c.1888C= (p.Leu630=)
c.439C= (p.Leu147=)
2g.165344633C>GCA349013440SCN2Ac.2641C>G (p.Leu881Val)
c.*960C>G (n.*960C>G)
c.*628C>G (n.*628C>G)
c.*3164C>G (n.*3164C>G)
c.*583C>G (n.*583C>G)
c.2245C>G (p.Leu749Val)
c.79C>G (p.Leu27Val)
c.492C>G
n.2784C>G
c.2611C>G (p.Leu871Val)
c.1888C>G (p.Leu630Val)
c.439C>G (p.Leu147Val)
 gnomAD v4
2g.165344633C>TCA429885386SCN2Ac.2641C>T (p.Leu881=)
c.*960C>T (n.*960C>T)
c.*628C>T (n.*628C>T)
c.*3164C>T (n.*3164C>T)
c.*583C>T (n.*583C>T)
c.2245C>T (p.Leu749=)
c.79C>T (p.Leu27=)
c.492C>T
n.2784C>T
c.2611C>T (p.Leu871=)
c.1888C>T (p.Leu630=)
c.439C>T (p.Leu147=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.165344634T>ACA317880SCN2Ac.2642T>A (p.Leu881Gln)
c.*961T>A (n.*961T>A)
c.*629T>A (n.*629T>A)
c.*3165T>A (n.*3165T>A)
c.*584T>A (n.*584T>A)
c.2246T>A (p.Leu749Gln)
c.80T>A (p.Leu27Gln)
c.493T>A
n.2785T>A
c.2612T>A (p.Leu871Gln)
c.1889T>A (p.Leu630Gln)
c.440T>A (p.Leu147Gln)
 ClinVar dbSNP
2g.165344634T>CCA16621763SCN2Ac.2642T>C (p.Leu881Pro)
c.*961T>C (n.*961T>C)
c.*629T>C (n.*629T>C)
c.*3165T>C (n.*3165T>C)
c.*584T>C (n.*584T>C)
c.2246T>C (p.Leu749Pro)
c.80T>C (p.Leu27Pro)
c.493T>C
n.2785T>C
c.2612T>C (p.Leu871Pro)
c.1889T>C (p.Leu630Pro)
c.440T>C (p.Leu147Pro)
 ClinVar dbSNP
2g.165344634T>GCA349013446SCN2Ac.2642T>G (p.Leu881Arg)
c.*961T>G (n.*961T>G)
c.*629T>G (n.*629T>G)
c.*3165T>G (n.*3165T>G)
c.*584T>G (n.*584T>G)
c.2246T>G (p.Leu749Arg)
c.80T>G (p.Leu27Arg)
c.493T>G
n.2785T>G
c.2612T>G (p.Leu871Arg)
c.1889T>G (p.Leu630Arg)
c.440T>G (p.Leu147Arg)
2g.165344634T=CA1304545472SCN2Ac.2642T= (p.Leu881=)
c.*961T= (n.*961T=)
c.*629T= (n.*629T=)
c.*3165T= (n.*3165T=)
c.*584T= (n.*584T=)
c.2246T= (p.Leu749=)
c.80T= (p.Leu27=)
c.493T=
n.2785T=
c.2612T= (p.Leu871=)
c.1889T= (p.Leu630=)
c.440T= (p.Leu147=)
2g.165344635A=CA1304545473SCN2Ac.2643A= (p.Leu881=)
c.*962A= (n.*962A=)
c.*630A= (n.*630A=)
c.*3166A= (n.*3166A=)
c.*585A= (n.*585A=)
c.2247A= (p.Leu749=)
c.81A= (p.Leu27=)
c.494A=
n.2786A=
c.2613A= (p.Leu871=)
c.1890A= (p.Leu630=)
c.441A= (p.Leu147=)
2g.165344635A>CCA429885388SCN2Ac.2643A>C (p.Leu881=)
c.*962A>C (n.*962A>C)
c.*630A>C (n.*630A>C)
c.*3166A>C (n.*3166A>C)
c.*585A>C (n.*585A>C)
c.2247A>C (p.Leu749=)
c.81A>C (p.Leu27=)
c.494A>C
n.2786A>C
c.2613A>C (p.Leu871=)
c.1890A>C (p.Leu630=)
c.441A>C (p.Leu147=)
2g.165344635A>GCA1940011SCN2Ac.2643A>G (p.Leu881=)
c.*962A>G (n.*962A>G)
c.*630A>G (n.*630A>G)
c.*3166A>G (n.*3166A>G)
c.*585A>G (n.*585A>G)
c.2247A>G (p.Leu749=)
c.81A>G (p.Leu27=)
c.494A>G
n.2786A>G
c.2613A>G (p.Leu871=)
c.1890A>G (p.Leu630=)
c.441A>G (p.Leu147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165344635A>TCA429885387SCN2Ac.2643A>T (p.Leu881=)
c.*962A>T (n.*962A>T)
c.*630A>T (n.*630A>T)
c.*3166A>T (n.*3166A>T)
c.*585A>T (n.*585A>T)
c.2247A>T (p.Leu749=)
c.81A>T (p.Leu27=)
c.494A>T
n.2786A>T
c.2613A>T (p.Leu871=)
c.1890A>T (p.Leu630=)
c.441A>T (p.Leu147=)
 dbSNP
2g.165344636G>ACA349013451SCN2Ac.2644G>A (p.Gly882Arg)
c.*963G>A (n.*963G>A)
c.*631G>A (n.*631G>A)
c.*3167G>A (n.*3167G>A)
c.*586G>A (n.*586G>A)
c.2248G>A (p.Gly750Arg)
c.82G>A (p.Gly28Arg)
c.495G>A
n.2787G>A
c.2614G>A (p.Gly872Arg)
c.1891G>A (p.Gly631Arg)
c.442G>A (p.Gly148Arg)
2g.165344636G>CCA349013452SCN2Ac.2644G>C (p.Gly882Arg)
c.*963G>C (n.*963G>C)
c.*631G>C (n.*631G>C)
c.*3167G>C (n.*3167G>C)
c.*586G>C (n.*586G>C)
c.2248G>C (p.Gly750Arg)
c.82G>C (p.Gly28Arg)
c.495G>C
n.2787G>C
c.2614G>C (p.Gly872Arg)
c.1891G>C (p.Gly631Arg)
c.442G>C (p.Gly148Arg)
2g.165344636G=CA1304545474SCN2Ac.2644G= (p.Gly882=)
c.*963G= (n.*963G=)
c.*631G= (n.*631G=)
c.*3167G= (n.*3167G=)
c.*586G= (n.*586G=)
c.2248G= (p.Gly750=)
c.82G= (p.Gly28=)
c.495G=
n.2787G=
c.2614G= (p.Gly872=)
c.1891G= (p.Gly631=)
c.442G= (p.Gly148=)
2g.165344636G>TCA349013449SCN2Ac.2644G>T (p.Gly882Ter)
c.*963G>T (n.*963G>T)
c.*631G>T (n.*631G>T)
c.*3167G>T (n.*3167G>T)
c.*586G>T (n.*586G>T)
c.2248G>T (p.Gly750Ter)
c.82G>T (p.Gly28Ter)
c.495G>T
n.2787G>T
c.2614G>T (p.Gly872Ter)
c.1891G>T (p.Gly631Ter)
c.442G>T (p.Gly148Ter)
 dbSNP
2g.165344637G>ACA349013455SCN2Ac.2645G>A (p.Gly882Glu)
c.*964G>A (n.*964G>A)
c.*632G>A (n.*632G>A)
c.*3168G>A (n.*3168G>A)
c.*587G>A (n.*587G>A)
c.2249G>A (p.Gly750Glu)
c.83G>A (p.Gly28Glu)
c.496G>A
n.2788G>A
c.2615G>A (p.Gly872Glu)
c.1892G>A (p.Gly631Glu)
c.443G>A (p.Gly148Glu)
 ClinVar dbSNP COSMIC COSMIC
2g.165344637G>CCA349013457SCN2Ac.2645G>C (p.Gly882Ala)
c.*964G>C (n.*964G>C)
c.*632G>C (n.*632G>C)
c.*3168G>C (n.*3168G>C)
c.*587G>C (n.*587G>C)
c.2249G>C (p.Gly750Ala)
c.83G>C (p.Gly28Ala)
c.496G>C
n.2788G>C
c.2615G>C (p.Gly872Ala)
c.1892G>C (p.Gly631Ala)
c.443G>C (p.Gly148Ala)
2g.165344637G=CA1304545475SCN2Ac.2645G= (p.Gly882=)
c.*964G= (n.*964G=)
c.*632G= (n.*632G=)
c.*3168G= (n.*3168G=)
c.*587G= (n.*587G=)
c.2249G= (p.Gly750=)
c.83G= (p.Gly28=)
c.496G=
n.2788G=
c.2615G= (p.Gly872=)
c.1892G= (p.Gly631=)
c.443G= (p.Gly148=)
2g.165344637G>TCA349013459SCN2Ac.2645G>T (p.Gly882Val)
c.*964G>T (n.*964G>T)
c.*632G>T (n.*632G>T)
c.*3168G>T (n.*3168G>T)
c.*587G>T (n.*587G>T)
c.2249G>T (p.Gly750Val)
c.83G>T (p.Gly28Val)
c.496G>T
n.2788G>T
c.2615G>T (p.Gly872Val)
c.1892G>T (p.Gly631Val)
c.443G>T (p.Gly148Val)
2g.165344638A>CCA429885389SCN2Ac.2646A>C (p.Gly882=)
c.*965A>C (n.*965A>C)
c.*633A>C (n.*633A>C)
c.*3169A>C (n.*3169A>C)
c.*588A>C (n.*588A>C)
c.2250A>C (p.Gly750=)
c.84A>C (p.Gly28=)
c.497A>C
n.2789A>C
c.2616A>C (p.Gly872=)
c.1893A>C (p.Gly631=)
c.444A>C (p.Gly148=)
2g.165344638A>GCA429885390SCN2Ac.2646A>G (p.Gly882=)
c.*965A>G (n.*965A>G)
c.*633A>G (n.*633A>G)
c.*3169A>G (n.*3169A>G)
c.*588A>G (n.*588A>G)
c.2250A>G (p.Gly750=)
c.84A>G (p.Gly28=)
c.497A>G
n.2789A>G
c.2616A>G (p.Gly872=)
c.1893A>G (p.Gly631=)
c.444A>G (p.Gly148=)
2g.165344638A>TCA429885391SCN2Ac.2646A>T (p.Gly882=)
c.*965A>T (n.*965A>T)
c.*633A>T (n.*633A>T)
c.*3169A>T (n.*3169A>T)
c.*588A>T (n.*588A>T)
c.2250A>T (p.Gly750=)
c.84A>T (p.Gly28=)
c.497A>T
n.2789A>T
c.2616A>T (p.Gly872=)
c.1893A>T (p.Gly631=)
c.444A>T (p.Gly148=)
2g.165344639A>CCA349013462SCN2Ac.2647A>C (p.Asn883His)
c.*966A>C (n.*966A>C)
c.*634A>C (n.*634A>C)
c.*3170A>C (n.*3170A>C)
c.*589A>C (n.*589A>C)
c.2251A>C (p.Asn751His)
c.85A>C (p.Asn29His)
c.498A>C
n.2790A>C
c.2617A>C (p.Asn873His)
c.1894A>C (p.Asn632His)
c.445A>C (p.Asn149His)
2g.165344639A>GCA349013464SCN2Ac.2647A>G (p.Asn883Asp)
c.*966A>G (n.*966A>G)
c.*634A>G (n.*634A>G)
c.*3170A>G (n.*3170A>G)
c.*589A>G (n.*589A>G)
c.2251A>G (p.Asn751Asp)
c.85A>G (p.Asn29Asp)
c.498A>G
n.2790A>G
c.2617A>G (p.Asn873Asp)
c.1894A>G (p.Asn632Asp)
c.445A>G (p.Asn149Asp)
2g.165344639A>TCA349013466SCN2Ac.2647A>T (p.Asn883Tyr)
c.*966A>T (n.*966A>T)
c.*634A>T (n.*634A>T)
c.*3170A>T (n.*3170A>T)
c.*589A>T (n.*589A>T)
c.2251A>T (p.Asn751Tyr)
c.85A>T (p.Asn29Tyr)
c.498A>T
n.2790A>T
c.2617A>T (p.Asn873Tyr)
c.1894A>T (p.Asn632Tyr)
c.445A>T (p.Asn149Tyr)
2g.165344640A>CCA349013472SCN2Ac.2648A>C (p.Asn883Thr)
c.*967A>C (n.*967A>C)
c.*635A>C (n.*635A>C)
c.*3171A>C (n.*3171A>C)
c.*590A>C (n.*590A>C)
c.2252A>C (p.Asn751Thr)
c.86A>C (p.Asn29Thr)
c.499A>C
n.2791A>C
c.2618A>C (p.Asn873Thr)
c.1895A>C (p.Asn632Thr)
c.446A>C (p.Asn149Thr)
2g.165344640A>GCA349013468SCN2Ac.2648A>G (p.Asn883Ser)
c.*967A>G (n.*967A>G)
c.*635A>G (n.*635A>G)
c.*3171A>G (n.*3171A>G)
c.*590A>G (n.*590A>G)
c.2252A>G (p.Asn751Ser)
c.86A>G (p.Asn29Ser)
c.499A>G
n.2791A>G
c.2618A>G (p.Asn873Ser)
c.1895A>G (p.Asn632Ser)
c.446A>G (p.Asn149Ser)
2g.165344640A>TCA349013470SCN2Ac.2648A>T (p.Asn883Ile)
c.*967A>T (n.*967A>T)
c.*635A>T (n.*635A>T)
c.*3171A>T (n.*3171A>T)
c.*590A>T (n.*590A>T)
c.2252A>T (p.Asn751Ile)
c.86A>T (p.Asn29Ile)
c.499A>T
n.2791A>T
c.2618A>T (p.Asn873Ile)
c.1895A>T (p.Asn632Ile)
c.446A>T (p.Asn149Ile)
2g.165344641C>ACA349013474SCN2Ac.2649C>A (p.Asn883Lys)
c.*968C>A (n.*968C>A)
c.*636C>A (n.*636C>A)
c.*3172C>A (n.*3172C>A)
c.*591C>A (n.*591C>A)
c.2253C>A (p.Asn751Lys)
c.87C>A (p.Asn29Lys)
c.500C>A
n.2792C>A
c.2619C>A (p.Asn873Lys)
c.1896C>A (p.Asn632Lys)
c.447C>A (p.Asn149Lys)
2g.165344641C>GCA349013475SCN2Ac.2649C>G (p.Asn883Lys)
c.*968C>G (n.*968C>G)
c.*636C>G (n.*636C>G)
c.*3172C>G (n.*3172C>G)
c.*591C>G (n.*591C>G)
c.2253C>G (p.Asn751Lys)
c.87C>G (p.Asn29Lys)
c.500C>G
n.2792C>G
c.2619C>G (p.Asn873Lys)
c.1896C>G (p.Asn632Lys)
c.447C>G (p.Asn149Lys)
2g.165344641C>TCA429885392SCN2Ac.2649C>T (p.Asn883=)
c.*968C>T (n.*968C>T)
c.*636C>T (n.*636C>T)
c.*3172C>T (n.*3172C>T)
c.*591C>T (n.*591C>T)
c.2253C>T (p.Asn751=)
c.87C>T (p.Asn29=)
c.500C>T
n.2792C>T
c.2619C>T (p.Asn873=)
c.1896C>T (p.Asn632=)
c.447C>T (p.Asn149=)
2g.165344642C>ACA349013478SCN2Ac.2650C>A (p.Leu884Ile)
c.*969C>A (n.*969C>A)
c.*637C>A (n.*637C>A)
c.*3173C>A (n.*3173C>A)
c.*592C>A (n.*592C>A)
c.2254C>A (p.Leu752Ile)
c.88C>A (p.Leu30Ile)
c.501C>A
n.2793C>A
c.2620C>A (p.Leu874Ile)
c.1897C>A (p.Leu633Ile)
c.448C>A (p.Leu150Ile)
2g.165344642C>GCA349013481SCN2Ac.2650C>G (p.Leu884Val)
c.*969C>G (n.*969C>G)
c.*637C>G (n.*637C>G)
c.*3173C>G (n.*3173C>G)
c.*592C>G (n.*592C>G)
c.2254C>G (p.Leu752Val)
c.88C>G (p.Leu30Val)
c.501C>G
n.2793C>G
c.2620C>G (p.Leu874Val)
c.1897C>G (p.Leu633Val)
c.448C>G (p.Leu150Val)
2g.165344642C>TCA349013482SCN2Ac.2650C>T (p.Leu884Phe)
c.*969C>T (n.*969C>T)
c.*637C>T (n.*637C>T)
c.*3173C>T (n.*3173C>T)
c.*592C>T (n.*592C>T)
c.2254C>T (p.Leu752Phe)
c.88C>T (p.Leu30Phe)
c.501C>T
n.2793C>T
c.2620C>T (p.Leu874Phe)
c.1897C>T (p.Leu633Phe)
c.448C>T (p.Leu150Phe)
2g.165344643T>ACA317883SCN2Ac.2651T>A (p.Leu884His)
c.*970T>A (n.*970T>A)
c.*638T>A (n.*638T>A)
c.*3174T>A (n.*3174T>A)
c.*593T>A (n.*593T>A)
c.2255T>A (p.Leu752His)
c.89T>A (p.Leu30His)
c.502T>A
n.2794T>A
c.2621T>A (p.Leu874His)
c.1898T>A (p.Leu633His)
c.449T>A (p.Leu150His)
 dbSNP
2g.165344643T>CCA349014177SCN2Ac.2651T>C (p.Leu884Pro)
c.*970T>C (n.*970T>C)
c.*638T>C (n.*638T>C)
c.*3174T>C (n.*3174T>C)
c.*593T>C (n.*593T>C)
c.2255T>C (p.Leu752Pro)
c.89T>C (p.Leu30Pro)
c.502T>C
n.2794T>C
c.2621T>C (p.Leu874Pro)
c.1898T>C (p.Leu633Pro)
c.449T>C (p.Leu150Pro)
2g.165344643T>GCA349014180SCN2Ac.2651T>G (p.Leu884Arg)
c.*970T>G (n.*970T>G)
c.*638T>G (n.*638T>G)
c.*3174T>G (n.*3174T>G)
c.*593T>G (n.*593T>G)
c.2255T>G (p.Leu752Arg)
c.89T>G (p.Leu30Arg)
c.502T>G
n.2794T>G
c.2621T>G (p.Leu874Arg)
c.1898T>G (p.Leu633Arg)
c.449T>G (p.Leu150Arg)
2g.165344643T=CA1304545476SCN2Ac.2651T= (p.Leu884=)
c.*970T= (n.*970T=)
c.*638T= (n.*638T=)
c.*3174T= (n.*3174T=)
c.*593T= (n.*593T=)
c.2255T= (p.Leu752=)
c.89T= (p.Leu30=)
c.502T=
n.2794T=
c.2621T= (p.Leu874=)
c.1898T= (p.Leu633=)
c.449T= (p.Leu150=)
2g.165344646_165344663delCA2580064223SCN2Ac.2654_2671del (p.Thr885_Ile890del)
c.*973_*990del (n.*973_*990del)
c.*641_*658del (n.*641_*658del)
c.*3177_*3194del (n.*3177_*3194del)
c.*596_*613del (n.*596_*613del)
c.2258_2275del (p.Thr753_Ile758del)
c.92_109del (p.Thr31_Ile36del)
c.505_522del
n.2797_2814del
c.2624_2641del (p.Thr875_Ile880del)
c.1901_1918del (p.Thr634_Ile639del)
c.452_469del (p.Thr151_Ile156del)
 ClinVar
2g.165344644C>ACA429972021SCN2Ac.2652C>A (p.Leu884=)
c.*971C>A (n.*971C>A)
c.*639C>A (n.*639C>A)
c.*3175C>A (n.*3175C>A)
c.*594C>A (n.*594C>A)
c.2256C>A (p.Leu752=)
c.90C>A (p.Leu30=)
c.503C>A
n.2795C>A
c.2622C>A (p.Leu874=)
c.1899C>A (p.Leu633=)
c.450C>A (p.Leu150=)
2g.165344644C>GCA429972024SCN2Ac.2652C>G (p.Leu884=)
c.*971C>G (n.*971C>G)
c.*639C>G (n.*639C>G)
c.*3175C>G (n.*3175C>G)
c.*594C>G (n.*594C>G)
c.2256C>G (p.Leu752=)
c.90C>G (p.Leu30=)
c.503C>G
n.2795C>G
c.2622C>G (p.Leu874=)
c.1899C>G (p.Leu633=)
c.450C>G (p.Leu150=)
2g.165344644C>TCA429972025SCN2Ac.2652C>T (p.Leu884=)
c.*971C>T (n.*971C>T)
c.*639C>T (n.*639C>T)
c.*3175C>T (n.*3175C>T)
c.*594C>T (n.*594C>T)
c.2256C>T (p.Leu752=)
c.90C>T (p.Leu30=)
c.503C>T
n.2795C>T
c.2622C>T (p.Leu874=)
c.1899C>T (p.Leu633=)
c.450C>T (p.Leu150=)
2g.165344645A>CCA349014184SCN2Ac.2653A>C (p.Thr885Pro)
c.*972A>C (n.*972A>C)
c.*640A>C (n.*640A>C)
c.*3176A>C (n.*3176A>C)
c.*595A>C (n.*595A>C)
c.2257A>C (p.Thr753Pro)
c.91A>C (p.Thr31Pro)
c.504A>C
n.2796A>C
c.2623A>C (p.Thr875Pro)
c.1900A>C (p.Thr634Pro)
c.451A>C (p.Thr151Pro)
 ClinVar dbSNP
2g.165344645A>GCA349014185SCN2Ac.2653A>G (p.Thr885Ala)
c.*972A>G (n.*972A>G)
c.*640A>G (n.*640A>G)
c.*3176A>G (n.*3176A>G)
c.*595A>G (n.*595A>G)
c.2257A>G (p.Thr753Ala)
c.91A>G (p.Thr31Ala)
c.504A>G
n.2796A>G
c.2623A>G (p.Thr875Ala)
c.1900A>G (p.Thr634Ala)
c.451A>G (p.Thr151Ala)
2g.165344645A>TCA349014189SCN2Ac.2653A>T (p.Thr885Ser)
c.*972A>T (n.*972A>T)
c.*640A>T (n.*640A>T)
c.*3176A>T (n.*3176A>T)
c.*595A>T (n.*595A>T)
c.2257A>T (p.Thr753Ser)
c.91A>T (p.Thr31Ser)
c.504A>T
n.2796A>T
c.2623A>T (p.Thr875Ser)
c.1900A>T (p.Thr634Ser)
c.451A>T (p.Thr151Ser)
2g.165344646C>ACA349014193SCN2Ac.2654C>A (p.Thr885Asn)
c.*973C>A (n.*973C>A)
c.*641C>A (n.*641C>A)
c.*3177C>A (n.*3177C>A)
c.*596C>A (n.*596C>A)
c.2258C>A (p.Thr753Asn)
c.92C>A (p.Thr31Asn)
c.505C>A
n.2797C>A
c.2624C>A (p.Thr875Asn)
c.1901C>A (p.Thr634Asn)
c.452C>A (p.Thr151Asn)
2g.165344646C=CA1304545477SCN2Ac.2654C= (p.Thr885=)
c.*973C= (n.*973C=)
c.*641C= (n.*641C=)
c.*3177C= (n.*3177C=)
c.*596C= (n.*596C=)
c.2258C= (p.Thr753=)
c.92C= (p.Thr31=)
c.505C=
n.2797C=
c.2624C= (p.Thr875=)
c.1901C= (p.Thr634=)
c.452C= (p.Thr151=)
2g.165344646C>GCA349014194SCN2Ac.2654C>G (p.Thr885Ser)
c.*973C>G (n.*973C>G)
c.*641C>G (n.*641C>G)
c.*3177C>G (n.*3177C>G)
c.*596C>G (n.*596C>G)
c.2258C>G (p.Thr753Ser)
c.92C>G (p.Thr31Ser)
c.505C>G
n.2797C>G
c.2624C>G (p.Thr875Ser)
c.1901C>G (p.Thr634Ser)
c.452C>G (p.Thr151Ser)
2g.165344646C>TCA349014196SCN2Ac.2654C>T (p.Thr885Ile)
c.*973C>T (n.*973C>T)
c.*641C>T (n.*641C>T)
c.*3177C>T (n.*3177C>T)
c.*596C>T (n.*596C>T)
c.2258C>T (p.Thr753Ile)
c.92C>T (p.Thr31Ile)
c.505C>T
n.2797C>T
c.2624C>T (p.Thr875Ile)
c.1901C>T (p.Thr634Ile)
c.452C>T (p.Thr151Ile)
 ClinVar dbSNP
2g.165344647C>ACA429972034SCN2Ac.2655C>A (p.Thr885=)
c.*974C>A (n.*974C>A)
c.*642C>A (n.*642C>A)
c.*3178C>A (n.*3178C>A)
c.*597C>A (n.*597C>A)
c.2259C>A (p.Thr753=)
c.93C>A (p.Thr31=)
c.506C>A
n.2798C>A
c.2625C>A (p.Thr875=)
c.1902C>A (p.Thr634=)
c.453C>A (p.Thr151=)
2g.165344647C=CA1304545478SCN2Ac.2655C= (p.Thr885=)
c.*974C= (n.*974C=)
c.*642C= (n.*642C=)
c.*3178C= (n.*3178C=)
c.*597C= (n.*597C=)
c.2259C= (p.Thr753=)
c.93C= (p.Thr31=)
c.506C=
n.2798C=
c.2625C= (p.Thr875=)
c.1902C= (p.Thr634=)
c.453C= (p.Thr151=)
2g.165344647C>GCA429972033SCN2Ac.2655C>G (p.Thr885=)
c.*974C>G (n.*974C>G)
c.*642C>G (n.*642C>G)
c.*3178C>G (n.*3178C>G)
c.*597C>G (n.*597C>G)
c.2259C>G (p.Thr753=)
c.93C>G (p.Thr31=)
c.506C>G
n.2798C>G
c.2625C>G (p.Thr875=)
c.1902C>G (p.Thr634=)
c.453C>G (p.Thr151=)
 gnomAD v4
2g.165344647C>TCA59719973SCN2Ac.2655C>T (p.Thr885=)
c.*974C>T (n.*974C>T)
c.*642C>T (n.*642C>T)
c.*3178C>T (n.*3178C>T)
c.*597C>T (n.*597C>T)
c.2259C>T (p.Thr753=)
c.93C>T (p.Thr31=)
c.506C>T
n.2798C>T
c.2625C>T (p.Thr875=)
c.1902C>T (p.Thr634=)
c.453C>T (p.Thr151=)
 dbSNP
2g.165344648T>ACA349014199SCN2Ac.2656T>A (p.Leu886Met)
c.*975T>A (n.*975T>A)
c.*643T>A (n.*643T>A)
c.*3179T>A (n.*3179T>A)
c.*598T>A (n.*598T>A)
c.2260T>A (p.Leu754Met)
c.94T>A (p.Leu32Met)
c.507T>A
n.2799T>A
c.2626T>A (p.Leu876Met)
c.1903T>A (p.Leu635Met)
c.454T>A (p.Leu152Met)
 ClinVar
2g.165344648T>CCA429972035SCN2Ac.2656T>C (p.Leu886=)
c.*975T>C (n.*975T>C)
c.*643T>C (n.*643T>C)
c.*3179T>C (n.*3179T>C)
c.*598T>C (n.*598T>C)
c.2260T>C (p.Leu754=)
c.94T>C (p.Leu32=)
c.507T>C
n.2799T>C
c.2626T>C (p.Leu876=)
c.1903T>C (p.Leu635=)
c.454T>C (p.Leu152=)
2g.165344648T>GCA349014206SCN2Ac.2656T>G (p.Leu886Val)
c.*975T>G (n.*975T>G)
c.*643T>G (n.*643T>G)
c.*3179T>G (n.*3179T>G)
c.*598T>G (n.*598T>G)
c.2260T>G (p.Leu754Val)
c.94T>G (p.Leu32Val)
c.507T>G
n.2799T>G
c.2626T>G (p.Leu876Val)
c.1903T>G (p.Leu635Val)
c.454T>G (p.Leu152Val)
 ClinVar
2g.165344649T>ACA349014212SCN2Ac.2657T>A (p.Leu886Ter)
c.*976T>A (n.*976T>A)
c.*644T>A (n.*644T>A)
c.*3180T>A (n.*3180T>A)
c.*599T>A (n.*599T>A)
c.2261T>A (p.Leu754Ter)
c.95T>A (p.Leu32Ter)
c.508T>A
n.2800T>A
c.2627T>A (p.Leu876Ter)
c.1904T>A (p.Leu635Ter)
c.455T>A (p.Leu152Ter)
2g.165344649T>CCA317886SCN2Ac.2657T>C (p.Leu886Ser)
c.*976T>C (n.*976T>C)
c.*644T>C (n.*644T>C)
c.*3180T>C (n.*3180T>C)
c.*599T>C (n.*599T>C)
c.2261T>C (p.Leu754Ser)
c.95T>C (p.Leu32Ser)
c.508T>C
n.2800T>C
c.2627T>C (p.Leu876Ser)
c.1904T>C (p.Leu635Ser)
c.455T>C (p.Leu152Ser)
 ClinVar dbSNP
2g.165344649T>GCA349014217SCN2Ac.2657T>G (p.Leu886Trp)
c.*976T>G (n.*976T>G)
c.*644T>G (n.*644T>G)
c.*3180T>G (n.*3180T>G)
c.*599T>G (n.*599T>G)
c.2261T>G (p.Leu754Trp)
c.95T>G (p.Leu32Trp)
c.508T>G
n.2800T>G
c.2627T>G (p.Leu876Trp)
c.1904T>G (p.Leu635Trp)
c.455T>G (p.Leu152Trp)
2g.165344649T=CA1304545479SCN2Ac.2657T= (p.Leu886=)
c.*976T= (n.*976T=)
c.*644T= (n.*644T=)
c.*3180T= (n.*3180T=)
c.*599T= (n.*599T=)
c.2261T= (p.Leu754=)
c.95T= (p.Leu32=)
c.508T=
n.2800T=
c.2627T= (p.Leu876=)
c.1904T= (p.Leu635=)
c.455T= (p.Leu152=)
2g.165344649_165344650insACA2753007924SCN2Ac.2657_2658insA (p.Val887GlyfsTer19)
c.*976_*977insA (n.*976_*977insA)
c.*644_*645insA (n.*644_*645insA)
c.*3180_*3181insA (n.*3180_*3181insA)
c.*599_*600insA (n.*599_*600insA)
c.2261_2262insA (p.Val755GlyfsTer19)
c.95_96insA (p.Val33GlyfsTer19)
c.508_509insA
n.2800_2801insA
c.2627_2628insA (p.Val877GlyfsTer19)
c.1904_1905insA (p.Val636GlyfsTer19)
c.455_456insA (p.Val153GlyfsTer19)
2g.165344650G>ACA429972037SCN2Ac.2658G>A (p.Leu886=)
c.*977G>A (n.*977G>A)
c.*645G>A (n.*645G>A)
c.*3181G>A (n.*3181G>A)
c.*600G>A (n.*600G>A)
c.2262G>A (p.Leu754=)
c.96G>A (p.Leu32=)
c.509G>A
n.2801G>A
c.2628G>A (p.Leu876=)
c.1905G>A (p.Leu635=)
c.456G>A (p.Leu152=)
 gnomAD v4 COSMIC COSMIC
2g.165344650G>CCA349014228SCN2Ac.2658G>C (p.Leu886Phe)
c.*977G>C (n.*977G>C)
c.*645G>C (n.*645G>C)
c.*3181G>C (n.*3181G>C)
c.*600G>C (n.*600G>C)
c.2262G>C (p.Leu754Phe)
c.96G>C (p.Leu32Phe)
c.509G>C
n.2801G>C
c.2628G>C (p.Leu876Phe)
c.1905G>C (p.Leu635Phe)
c.456G>C (p.Leu152Phe)
 gnomAD v4
2g.165344650G>TCA349014230SCN2Ac.2658G>T (p.Leu886Phe)
c.*977G>T (n.*977G>T)
c.*645G>T (n.*645G>T)
c.*3181G>T (n.*3181G>T)
c.*600G>T (n.*600G>T)
c.2262G>T (p.Leu754Phe)
c.96G>T (p.Leu32Phe)
c.509G>T
n.2801G>T
c.2628G>T (p.Leu876Phe)
c.1905G>T (p.Leu635Phe)
c.456G>T (p.Leu152Phe)
 gnomAD v4
2g.165344650_165344651delinsTTCA2586965065SCN2Ac.2658_2659delinsTT (p.Leu886_Val887delinsPheLeu)
c.*977_*978delinsTT (n.*977_*978delinsTT)
c.*645_*646delinsTT (n.*645_*646delinsTT)
c.*3181_*3182delinsTT (n.*3181_*3182delinsTT)
c.*600_*601delinsTT (n.*600_*601delinsTT)
c.2262_2263delinsTT (p.Leu754_Val755delinsPheLeu)
c.96_97delinsTT (p.Leu32_Val33delinsPheLeu)
c.509_510delinsTT
n.2801_2802delinsTT
c.2628_2629delinsTT (p.Leu876_Val877delinsPheLeu)
c.1905_1906delinsTT (p.Leu635_Val636delinsPheLeu)
c.456_457delinsTT (p.Leu152_Val153delinsPheLeu)
2g.165344651G>ACA349014232SCN2Ac.2659G>A (p.Val887Ile)
c.*978G>A (n.*978G>A)
c.*646G>A (n.*646G>A)
c.*3182G>A (n.*3182G>A)
c.*601G>A (n.*601G>A)
c.2263G>A (p.Val755Ile)
c.97G>A (p.Val33Ile)
c.510G>A
n.2802G>A
c.2629G>A (p.Val877Ile)
c.1906G>A (p.Val636Ile)
c.457G>A (p.Val153Ile)
 COSMIC COSMIC
2g.165344651G>CCA349014235SCN2Ac.2659G>C (p.Val887Leu)
c.*978G>C (n.*978G>C)
c.*646G>C (n.*646G>C)
c.*3182G>C (n.*3182G>C)
c.*601G>C (n.*601G>C)
c.2263G>C (p.Val755Leu)
c.97G>C (p.Val33Leu)
c.510G>C
n.2802G>C
c.2629G>C (p.Val877Leu)
c.1906G>C (p.Val636Leu)
c.457G>C (p.Val153Leu)
 ClinVar dbSNP
2g.165344651G=CA1304545480SCN2Ac.2659G= (p.Val887=)
c.*978G= (n.*978G=)
c.*646G= (n.*646G=)
c.*3182G= (n.*3182G=)
c.*601G= (n.*601G=)
c.2263G= (p.Val755=)
c.97G= (p.Val33=)
c.510G=
n.2802G=
c.2629G= (p.Val877=)
c.1906G= (p.Val636=)
c.457G= (p.Val153=)
2g.165344651G>TCA349014233SCN2Ac.2659G>T (p.Val887Leu)
c.*978G>T (n.*978G>T)
c.*646G>T (n.*646G>T)
c.*3182G>T (n.*3182G>T)
c.*601G>T (n.*601G>T)
c.2263G>T (p.Val755Leu)
c.97G>T (p.Val33Leu)
c.510G>T
n.2802G>T
c.2629G>T (p.Val877Leu)
c.1906G>T (p.Val636Leu)
c.457G>T (p.Val153Leu)
 COSMIC COSMIC
2g.165344652T>ACA349014255SCN2Ac.2660T>A (p.Val887Glu)
c.*979T>A (n.*979T>A)
c.*647T>A (n.*647T>A)
c.*3183T>A (n.*3183T>A)
c.*602T>A (n.*602T>A)
c.2264T>A (p.Val755Glu)
c.98T>A (p.Val33Glu)
c.511T>A
n.2803T>A
c.2630T>A (p.Val877Glu)
c.1907T>A (p.Val636Glu)
c.458T>A (p.Val153Glu)
2g.165344652T>CCA349014257SCN2Ac.2660T>C (p.Val887Ala)
c.*979T>C (n.*979T>C)
c.*647T>C (n.*647T>C)
c.*3183T>C (n.*3183T>C)
c.*602T>C (n.*602T>C)
c.2264T>C (p.Val755Ala)
c.98T>C (p.Val33Ala)
c.511T>C
n.2803T>C
c.2630T>C (p.Val877Ala)
c.1907T>C (p.Val636Ala)
c.458T>C (p.Val153Ala)
2g.165344652T>GCA349014258SCN2Ac.2660T>G (p.Val887Gly)
c.*979T>G (n.*979T>G)
c.*647T>G (n.*647T>G)
c.*3183T>G (n.*3183T>G)
c.*602T>G (n.*602T>G)
c.2264T>G (p.Val755Gly)
c.98T>G (p.Val33Gly)
c.511T>G
n.2803T>G
c.2630T>G (p.Val877Gly)
c.1907T>G (p.Val636Gly)
c.458T>G (p.Val153Gly)
2g.165344653A=CA1304545481SCN2Ac.2661A= (p.Val887=)
c.*980A= (n.*980A=)
c.*648A= (n.*648A=)
c.*3184A= (n.*3184A=)
c.*603A= (n.*603A=)
c.2265A= (p.Val755=)
c.99A= (p.Val33=)
c.512A=
n.2804A=
c.2631A= (p.Val877=)
c.1908A= (p.Val636=)
c.459A= (p.Val153=)
2g.165344653A>CCA429972046SCN2Ac.2661A>C (p.Val887=)
c.*980A>C (n.*980A>C)
c.*648A>C (n.*648A>C)
c.*3184A>C (n.*3184A>C)
c.*603A>C (n.*603A>C)
c.2265A>C (p.Val755=)
c.99A>C (p.Val33=)
c.512A>C
n.2804A>C
c.2631A>C (p.Val877=)
c.1908A>C (p.Val636=)
c.459A>C (p.Val153=)
2g.165344653A>GCA1940012SCN2Ac.2661A>G (p.Val887=)
c.*980A>G (n.*980A>G)
c.*648A>G (n.*648A>G)
c.*3184A>G (n.*3184A>G)
c.*603A>G (n.*603A>G)
c.2265A>G (p.Val755=)
c.99A>G (p.Val33=)
c.512A>G
n.2804A>G
c.2631A>G (p.Val877=)
c.1908A>G (p.Val636=)
c.459A>G (p.Val153=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165344653A>TCA429972047SCN2Ac.2661A>T (p.Val887=)
c.*980A>T (n.*980A>T)
c.*648A>T (n.*648A>T)
c.*3184A>T (n.*3184A>T)
c.*603A>T (n.*603A>T)
c.2265A>T (p.Val755=)
c.99A>T (p.Val33=)
c.512A>T
n.2804A>T
c.2631A>T (p.Val877=)
c.1908A>T (p.Val636=)
c.459A>T (p.Val153=)
2g.165344654T>ACA349014261SCN2Ac.2662T>A (p.Leu888Met)
c.*981T>A (n.*981T>A)
c.*649T>A (n.*649T>A)
c.*3185T>A (n.*3185T>A)
c.*604T>A (n.*604T>A)
c.2266T>A (p.Leu756Met)
c.100T>A (p.Leu34Met)
c.513T>A
n.2805T>A
c.2632T>A (p.Leu878Met)
c.1909T>A (p.Leu637Met)
c.460T>A (p.Leu154Met)
2g.165344654T>CCA429972048SCN2Ac.2662T>C (p.Leu888=)
c.*981T>C (n.*981T>C)
c.*649T>C (n.*649T>C)
c.*3185T>C (n.*3185T>C)
c.*604T>C (n.*604T>C)
c.2266T>C (p.Leu756=)
c.100T>C (p.Leu34=)
c.513T>C
n.2805T>C
c.2632T>C (p.Leu878=)
c.1909T>C (p.Leu637=)
c.460T>C (p.Leu154=)
2g.165344654T>GCA349014263SCN2Ac.2662T>G (p.Leu888Val)
c.*981T>G (n.*981T>G)
c.*649T>G (n.*649T>G)
c.*3185T>G (n.*3185T>G)
c.*604T>G (n.*604T>G)
c.2266T>G (p.Leu756Val)
c.100T>G (p.Leu34Val)
c.513T>G
n.2805T>G
c.2632T>G (p.Leu878Val)
c.1909T>G (p.Leu637Val)
c.460T>G (p.Leu154Val)
2g.165344655T>ACA349014270SCN2Ac.2663T>A (p.Leu888Ter)
c.*982T>A (n.*982T>A)
c.*650T>A (n.*650T>A)
c.*3186T>A (n.*3186T>A)
c.*605T>A (n.*605T>A)
c.2267T>A (p.Leu756Ter)
c.101T>A (p.Leu34Ter)
c.514T>A
n.2806T>A
c.2633T>A (p.Leu878Ter)
c.1910T>A (p.Leu637Ter)
c.461T>A (p.Leu154Ter)
2g.165344655T>CCA349014266SCN2Ac.2663T>C (p.Leu888Ser)
c.*982T>C (n.*982T>C)
c.*650T>C (n.*650T>C)
c.*3186T>C (n.*3186T>C)
c.*605T>C (n.*605T>C)
c.2267T>C (p.Leu756Ser)
c.101T>C (p.Leu34Ser)
c.514T>C
n.2806T>C
c.2633T>C (p.Leu878Ser)
c.1910T>C (p.Leu637Ser)
c.461T>C (p.Leu154Ser)
 gnomAD v3 gnomAD v4
2g.165344655T>GCA349014268SCN2Ac.2663T>G (p.Leu888Trp)
c.*982T>G (n.*982T>G)
c.*650T>G (n.*650T>G)
c.*3186T>G (n.*3186T>G)
c.*605T>G (n.*605T>G)
c.2267T>G (p.Leu756Trp)
c.101T>G (p.Leu34Trp)
c.514T>G
n.2806T>G
c.2633T>G (p.Leu878Trp)
c.1910T>G (p.Leu637Trp)
c.461T>G (p.Leu154Trp)
2g.165344656G>ACA429972051SCN2Ac.2664G>A (p.Leu888=)
c.*983G>A (n.*983G>A)
c.*651G>A (n.*651G>A)
c.*3187G>A (n.*3187G>A)
c.*606G>A (n.*606G>A)
c.2268G>A (p.Leu756=)
c.102G>A (p.Leu34=)
c.515G>A
n.2807G>A
c.2634G>A (p.Leu878=)
c.1911G>A (p.Leu637=)
c.462G>A (p.Leu154=)
 ClinVar dbSNP
2g.165344656G>CCA349014272SCN2Ac.2664G>C (p.Leu888Phe)
c.*983G>C (n.*983G>C)
c.*651G>C (n.*651G>C)
c.*3187G>C (n.*3187G>C)
c.*606G>C (n.*606G>C)
c.2268G>C (p.Leu756Phe)
c.102G>C (p.Leu34Phe)
c.515G>C
n.2807G>C
c.2634G>C (p.Leu878Phe)
c.1911G>C (p.Leu637Phe)
c.462G>C (p.Leu154Phe)
2g.165344656G=CA1304545482SCN2Ac.2664G= (p.Leu888=)
c.*983G= (n.*983G=)
c.*651G= (n.*651G=)
c.*3187G= (n.*3187G=)
c.*606G= (n.*606G=)
c.2268G= (p.Leu756=)
c.102G= (p.Leu34=)
c.515G=
n.2807G=
c.2634G= (p.Leu878=)
c.1911G= (p.Leu637=)
c.462G= (p.Leu154=)
2g.165344656G>TCA349014273SCN2Ac.2664G>T (p.Leu888Phe)
c.*983G>T (n.*983G>T)
c.*651G>T (n.*651G>T)
c.*3187G>T (n.*3187G>T)
c.*606G>T (n.*606G>T)
c.2268G>T (p.Leu756Phe)
c.102G>T (p.Leu34Phe)
c.515G>T
n.2807G>T
c.2634G>T (p.Leu878Phe)
c.1911G>T (p.Leu637Phe)
c.462G>T (p.Leu154Phe)
 gnomAD v3 gnomAD v4
2g.165344657G>ACA349014274SCN2Ac.2665G>A (p.Ala889Thr)
c.*984G>A (n.*984G>A)
c.*652G>A (n.*652G>A)
c.*3188G>A (n.*3188G>A)
c.*607G>A (n.*607G>A)
c.2269G>A (p.Ala757Thr)
c.103G>A (p.Ala35Thr)
c.516G>A
n.2808G>A
c.2635G>A (p.Ala879Thr)
c.1912G>A (p.Ala638Thr)
c.463G>A (p.Ala155Thr)
 gnomAD v4 COSMIC
2g.165344657G>CCA349014275SCN2Ac.2665G>C (p.Ala889Pro)
c.*984G>C (n.*984G>C)
c.*652G>C (n.*652G>C)
c.*3188G>C (n.*3188G>C)
c.*607G>C (n.*607G>C)
c.2269G>C (p.Ala757Pro)
c.103G>C (p.Ala35Pro)
c.516G>C
n.2808G>C
c.2635G>C (p.Ala879Pro)
c.1912G>C (p.Ala638Pro)
c.463G>C (p.Ala155Pro)
2g.165344657G>TCA349014276SCN2Ac.2665G>T (p.Ala889Ser)
c.*984G>T (n.*984G>T)
c.*652G>T (n.*652G>T)
c.*3188G>T (n.*3188G>T)
c.*607G>T (n.*607G>T)
c.2269G>T (p.Ala757Ser)
c.103G>T (p.Ala35Ser)
c.516G>T
n.2808G>T
c.2635G>T (p.Ala879Ser)
c.1912G>T (p.Ala638Ser)
c.463G>T (p.Ala155Ser)
2g.165344658C>ACA349014277SCN2Ac.2666C>A (p.Ala889Asp)
c.*985C>A (n.*985C>A)
c.*653C>A (n.*653C>A)
c.*3189C>A (n.*3189C>A)
c.*608C>A (n.*608C>A)
c.2270C>A (p.Ala757Asp)
c.104C>A (p.Ala35Asp)
c.517C>A
n.2809C>A
c.2636C>A (p.Ala879Asp)
c.1913C>A (p.Ala638Asp)
c.464C>A (p.Ala155Asp)
2g.165344658C>GCA349014281SCN2Ac.2666C>G (p.Ala889Gly)
c.*985C>G (n.*985C>G)
c.*653C>G (n.*653C>G)
c.*3189C>G (n.*3189C>G)
c.*608C>G (n.*608C>G)
c.2270C>G (p.Ala757Gly)
c.104C>G (p.Ala35Gly)
c.517C>G
n.2809C>G
c.2636C>G (p.Ala879Gly)
c.1913C>G (p.Ala638Gly)
c.464C>G (p.Ala155Gly)
2g.165344658C>TCA349014279SCN2Ac.2666C>T (p.Ala889Val)
c.*985C>T (n.*985C>T)
c.*653C>T (n.*653C>T)
c.*3189C>T (n.*3189C>T)
c.*608C>T (n.*608C>T)
c.2270C>T (p.Ala757Val)
c.104C>T (p.Ala35Val)
c.517C>T
n.2809C>T
c.2636C>T (p.Ala879Val)
c.1913C>T (p.Ala638Val)
c.464C>T (p.Ala155Val)
2g.165344659C>ACA429972057SCN2Ac.2667C>A (p.Ala889=)
c.*986C>A (n.*986C>A)
c.*654C>A (n.*654C>A)
c.*3190C>A (n.*3190C>A)
c.*609C>A (n.*609C>A)
c.2271C>A (p.Ala757=)
c.105C>A (p.Ala35=)
c.518C>A
n.2810C>A
c.2637C>A (p.Ala879=)
c.1914C>A (p.Ala638=)
c.465C>A (p.Ala155=)
2g.165344659C=CA1304545483SCN2Ac.2667C= (p.Ala889=)
c.*986C= (n.*986C=)
c.*654C= (n.*654C=)
c.*3190C= (n.*3190C=)
c.*609C= (n.*609C=)
c.2271C= (p.Ala757=)
c.105C= (p.Ala35=)
c.518C=
n.2810C=
c.2637C= (p.Ala879=)
c.1914C= (p.Ala638=)
c.465C= (p.Ala155=)
2g.165344659C>GCA429972059SCN2Ac.2667C>G (p.Ala889=)
c.*986C>G (n.*986C>G)
c.*654C>G (n.*654C>G)
c.*3190C>G (n.*3190C>G)
c.*609C>G (n.*609C>G)
c.2271C>G (p.Ala757=)
c.105C>G (p.Ala35=)
c.518C>G
n.2810C>G
c.2637C>G (p.Ala879=)
c.1914C>G (p.Ala638=)
c.465C>G (p.Ala155=)
2g.165344659C>TCA1940013SCN2Ac.2667C>T (p.Ala889=)
c.*986C>T (n.*986C>T)
c.*654C>T (n.*654C>T)
c.*3190C>T (n.*3190C>T)
c.*609C>T (n.*609C>T)
c.2271C>T (p.Ala757=)
c.105C>T (p.Ala35=)
c.518C>T
n.2810C>T
c.2637C>T (p.Ala879=)
c.1914C>T (p.Ala638=)
c.465C>T (p.Ala155=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165344660A>CCA349014283SCN2Ac.2668A>C (p.Ile890Leu)
c.*987A>C (n.*987A>C)
c.*655A>C (n.*655A>C)
c.*3191A>C (n.*3191A>C)
c.*610A>C (n.*610A>C)
c.2272A>C (p.Ile758Leu)
c.106A>C (p.Ile36Leu)
c.519A>C
n.2811A>C
c.2638A>C (p.Ile880Leu)
c.1915A>C (p.Ile639Leu)
c.466A>C (p.Ile156Leu)
2g.165344660A>GCA349014284SCN2Ac.2668A>G (p.Ile890Val)
c.*987A>G (n.*987A>G)
c.*655A>G (n.*655A>G)
c.*3191A>G (n.*3191A>G)
c.*610A>G (n.*610A>G)
c.2272A>G (p.Ile758Val)
c.106A>G (p.Ile36Val)
c.519A>G
n.2811A>G
c.2638A>G (p.Ile880Val)
c.1915A>G (p.Ile639Val)
c.466A>G (p.Ile156Val)
2g.165344660A>TCA349014286SCN2Ac.2668A>T (p.Ile890Phe)
c.*987A>T (n.*987A>T)
c.*655A>T (n.*655A>T)
c.*3191A>T (n.*3191A>T)
c.*610A>T (n.*610A>T)
c.2272A>T (p.Ile758Phe)
c.106A>T (p.Ile36Phe)
c.519A>T
n.2811A>T
c.2638A>T (p.Ile880Phe)
c.1915A>T (p.Ile639Phe)
c.466A>T (p.Ile156Phe)
2g.165344661T>ACA349014289SCN2Ac.2669T>A (p.Ile890Asn)
c.*988T>A (n.*988T>A)
c.*656T>A (n.*656T>A)
c.*3192T>A (n.*3192T>A)
c.*611T>A (n.*611T>A)
c.2273T>A (p.Ile758Asn)
c.107T>A (p.Ile36Asn)
c.520T>A
n.2812T>A
c.2639T>A (p.Ile880Asn)
c.1916T>A (p.Ile639Asn)
c.467T>A (p.Ile156Asn)
2g.165344661T>CCA349014299SCN2Ac.2669T>C (p.Ile890Thr)
c.*988T>C (n.*988T>C)
c.*656T>C (n.*656T>C)
c.*3192T>C (n.*3192T>C)
c.*611T>C (n.*611T>C)
c.2273T>C (p.Ile758Thr)
c.107T>C (p.Ile36Thr)
c.520T>C
n.2812T>C
c.2639T>C (p.Ile880Thr)
c.1916T>C (p.Ile639Thr)
c.467T>C (p.Ile156Thr)
2g.165344661T>GCA349014301SCN2Ac.2669T>G (p.Ile890Ser)
c.*988T>G (n.*988T>G)
c.*656T>G (n.*656T>G)
c.*3192T>G (n.*3192T>G)
c.*611T>G (n.*611T>G)
c.2273T>G (p.Ile758Ser)
c.107T>G (p.Ile36Ser)
c.520T>G
n.2812T>G
c.2639T>G (p.Ile880Ser)
c.1916T>G (p.Ile639Ser)
c.467T>G (p.Ile156Ser)
2g.165344662C>ACA429972063SCN2Ac.2670C>A (p.Ile890=)
c.*989C>A (n.*989C>A)
c.*657C>A (n.*657C>A)
c.*3193C>A (n.*3193C>A)
c.*612C>A (n.*612C>A)
c.2274C>A (p.Ile758=)
c.108C>A (p.Ile36=)
c.521C>A
n.2813C>A
c.2640C>A (p.Ile880=)
c.1917C>A (p.Ile639=)
c.468C>A (p.Ile156=)
 dbSNP
2g.165344662C>GCA349014303SCN2Ac.2670C>G (p.Ile890Met)
c.*989C>G (n.*989C>G)
c.*657C>G (n.*657C>G)
c.*3193C>G (n.*3193C>G)
c.*612C>G (n.*612C>G)
c.2274C>G (p.Ile758Met)
c.108C>G (p.Ile36Met)
c.521C>G
n.2813C>G
c.2640C>G (p.Ile880Met)
c.1917C>G (p.Ile639Met)
c.468C>G (p.Ile156Met)
2g.165344662C>TCA429972064SCN2Ac.2670C>T (p.Ile890=)
c.*989C>T (n.*989C>T)
c.*657C>T (n.*657C>T)
c.*3193C>T (n.*3193C>T)
c.*612C>T (n.*612C>T)
c.2274C>T (p.Ile758=)
c.108C>T (p.Ile36=)
c.521C>T
n.2813C>T
c.2640C>T (p.Ile880=)
c.1917C>T (p.Ile639=)
c.468C>T (p.Ile156=)
2g.165344663A>CCA349014305SCN2Ac.2671A>C (p.Ile891Leu)
c.*990A>C (n.*990A>C)
c.*658A>C (n.*658A>C)
c.*3194A>C (n.*3194A>C)
c.*613A>C (n.*613A>C)
c.2275A>C (p.Ile759Leu)
c.109A>C (p.Ile37Leu)
c.522A>C
n.2814A>C
c.2641A>C (p.Ile881Leu)
c.1918A>C (p.Ile640Leu)
c.469A>C (p.Ile157Leu)
2g.165344663A>GCA349014314SCN2Ac.2671A>G (p.Ile891Val)
c.*990A>G (n.*990A>G)
c.*658A>G (n.*658A>G)
c.*3194A>G (n.*3194A>G)
c.*613A>G (n.*613A>G)
c.2275A>G (p.Ile759Val)
c.109A>G (p.Ile37Val)
c.522A>G
n.2814A>G
c.2641A>G (p.Ile881Val)
c.1918A>G (p.Ile640Val)
c.469A>G (p.Ile157Val)
2g.165344663A>TCA349014318SCN2Ac.2671A>T (p.Ile891Phe)
c.*990A>T (n.*990A>T)
c.*658A>T (n.*658A>T)
c.*3194A>T (n.*3194A>T)
c.*613A>T (n.*613A>T)
c.2275A>T (p.Ile759Phe)
c.109A>T (p.Ile37Phe)
c.522A>T
n.2814A>T
c.2641A>T (p.Ile881Phe)
c.1918A>T (p.Ile640Phe)
c.469A>T (p.Ile157Phe)
2g.165344664T>ACA349014329SCN2Ac.2672T>A (p.Ile891Asn)
c.*991T>A (n.*991T>A)
c.*659T>A (n.*659T>A)
c.*3195T>A (n.*3195T>A)
c.*614T>A (n.*614T>A)
c.2276T>A (p.Ile759Asn)
c.110T>A (p.Ile37Asn)
c.523T>A
n.2815T>A
c.2642T>A (p.Ile881Asn)
c.1919T>A (p.Ile640Asn)
c.470T>A (p.Ile157Asn)
 ClinVar dbSNP
2g.165344664T>CCA349014321SCN2Ac.2672T>C (p.Ile891Thr)
c.*991T>C (n.*991T>C)
c.*659T>C (n.*659T>C)
c.*3195T>C (n.*3195T>C)
c.*614T>C (n.*614T>C)
c.2276T>C (p.Ile759Thr)
c.110T>C (p.Ile37Thr)
c.523T>C
n.2815T>C
c.2642T>C (p.Ile881Thr)
c.1919T>C (p.Ile640Thr)
c.470T>C (p.Ile157Thr)
2g.165344664T>GCA349014325SCN2Ac.2672T>G (p.Ile891Ser)
c.*991T>G (n.*991T>G)
c.*659T>G (n.*659T>G)
c.*3195T>G (n.*3195T>G)
c.*614T>G (n.*614T>G)
c.2276T>G (p.Ile759Ser)
c.110T>G (p.Ile37Ser)
c.523T>G
n.2815T>G
c.2642T>G (p.Ile881Ser)
c.1919T>G (p.Ile640Ser)
c.470T>G (p.Ile157Ser)
2g.165344665C>ACA429972070SCN2Ac.2673C>A (p.Ile891=)
c.*992C>A (n.*992C>A)
c.*660C>A (n.*660C>A)
c.*3196C>A (n.*3196C>A)
c.*615C>A (n.*615C>A)
c.2277C>A (p.Ile759=)
c.111C>A (p.Ile37=)
c.524C>A
n.2816C>A
c.2643C>A (p.Ile881=)
c.1920C>A (p.Ile640=)
c.471C>A (p.Ile157=)
 COSMIC COSMIC
2g.165344665C=CA1304545484SCN2Ac.2673C= (p.Ile891=)
c.*992C= (n.*992C=)
c.*660C= (n.*660C=)
c.*3196C= (n.*3196C=)
c.*615C= (n.*615C=)
c.2277C= (p.Ile759=)
c.111C= (p.Ile37=)
c.524C=
n.2816C=
c.2643C= (p.Ile881=)
c.1920C= (p.Ile640=)
c.471C= (p.Ile157=)
2g.165344665C>GCA349014333SCN2Ac.2673C>G (p.Ile891Met)
c.*992C>G (n.*992C>G)
c.*660C>G (n.*660C>G)
c.*3196C>G (n.*3196C>G)
c.*615C>G (n.*615C>G)
c.2277C>G (p.Ile759Met)
c.111C>G (p.Ile37Met)
c.524C>G
n.2816C>G
c.2643C>G (p.Ile881Met)
c.1920C>G (p.Ile640Met)
c.471C>G (p.Ile157Met)
2g.165344665C>TCA209505SCN2Ac.2673C>T (p.Ile891=)
c.*992C>T (n.*992C>T)
c.*660C>T (n.*660C>T)
c.*3196C>T (n.*3196C>T)
c.*615C>T (n.*615C>T)
c.2277C>T (p.Ile759=)
c.111C>T (p.Ile37=)
c.524C>T
n.2816C>T
c.2643C>T (p.Ile881=)
c.1920C>T (p.Ile640=)
c.471C>T (p.Ile157=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165344666G>ACA122770SCN2Ac.2674G>A (p.Val892Ile)
c.*993G>A (n.*993G>A)
c.*661G>A (n.*661G>A)
c.*3197G>A (n.*3197G>A)
c.*616G>A (n.*616G>A)
c.2278G>A (p.Val760Ile)
c.112G>A (p.Val38Ile)
c.525G>A
n.2817G>A
c.2644G>A (p.Val882Ile)
c.1921G>A (p.Val641Ile)
c.472G>A (p.Val158Ile)
 ClinVar dbSNP gnomAD v4
2g.165344666G>CCA349014345SCN2Ac.2674G>C (p.Val892Leu)
c.*993G>C (n.*993G>C)
c.*661G>C (n.*661G>C)
c.*3197G>C (n.*3197G>C)
c.*616G>C (n.*616G>C)
c.2278G>C (p.Val760Leu)
c.112G>C (p.Val38Leu)
c.525G>C
n.2817G>C
c.2644G>C (p.Val882Leu)
c.1921G>C (p.Val641Leu)
c.472G>C (p.Val158Leu)
2g.165344666G=CA1304545485SCN2Ac.2674G= (p.Val892=)
c.*993G= (n.*993G=)
c.*661G= (n.*661G=)
c.*3197G= (n.*3197G=)
c.*616G= (n.*616G=)
c.2278G= (p.Val760=)
c.112G= (p.Val38=)
c.525G=
n.2817G=
c.2644G= (p.Val882=)
c.1921G= (p.Val641=)
c.472G= (p.Val158=)
2g.165344666G>TCA349014349SCN2Ac.2674G>T (p.Val892Phe)
c.*993G>T (n.*993G>T)
c.*661G>T (n.*661G>T)
c.*3197G>T (n.*3197G>T)
c.*616G>T (n.*616G>T)
c.2278G>T (p.Val760Phe)
c.112G>T (p.Val38Phe)
c.525G>T
n.2817G>T
c.2644G>T (p.Val882Phe)
c.1921G>T (p.Val641Phe)
c.472G>T (p.Val158Phe)
 ClinVar
2g.165344667T>ACA349014353SCN2Ac.2675T>A (p.Val892Asp)
c.*994T>A (n.*994T>A)
c.*662T>A (n.*662T>A)
c.*3198T>A (n.*3198T>A)
c.*617T>A (n.*617T>A)
c.2279T>A (p.Val760Asp)
c.113T>A (p.Val38Asp)
c.526T>A
n.2818T>A
c.2645T>A (p.Val882Asp)
c.1922T>A (p.Val641Asp)
c.473T>A (p.Val158Asp)
2g.165344667T>CCA349014355SCN2Ac.2675T>C (p.Val892Ala)
c.*994T>C (n.*994T>C)
c.*662T>C (n.*662T>C)
c.*3198T>C (n.*3198T>C)
c.*617T>C (n.*617T>C)
c.2279T>C (p.Val760Ala)
c.113T>C (p.Val38Ala)
c.526T>C
n.2818T>C
c.2645T>C (p.Val882Ala)
c.1922T>C (p.Val641Ala)
c.473T>C (p.Val158Ala)
2g.165344667T>GCA349014358SCN2Ac.2675T>G (p.Val892Gly)
c.*994T>G (n.*994T>G)
c.*662T>G (n.*662T>G)
c.*3198T>G (n.*3198T>G)
c.*617T>G (n.*617T>G)
c.2279T>G (p.Val760Gly)
c.113T>G (p.Val38Gly)
c.526T>G
n.2818T>G
c.2645T>G (p.Val882Gly)
c.1922T>G (p.Val641Gly)
c.473T>G (p.Val158Gly)
2g.165344668C>ACA429972078SCN2Ac.2676C>A (p.Val892=)
c.*995C>A (n.*995C>A)
c.*663C>A (n.*663C>A)
c.*3199C>A (n.*3199C>A)
c.*618C>A (n.*618C>A)
c.2280C>A (p.Val760=)
c.114C>A (p.Val38=)
c.527C>A
n.2819C>A
c.2646C>A (p.Val882=)
c.1923C>A (p.Val641=)
c.474C>A (p.Val158=)
2g.165344668C>GCA429972081SCN2Ac.2676C>G (p.Val892=)
c.*995C>G (n.*995C>G)
c.*663C>G (n.*663C>G)
c.*3199C>G (n.*3199C>G)
c.*618C>G (n.*618C>G)
c.2280C>G (p.Val760=)
c.114C>G (p.Val38=)
c.527C>G
n.2819C>G
c.2646C>G (p.Val882=)
c.1923C>G (p.Val641=)
c.474C>G (p.Val158=)
2g.165344668C>TCA429972079SCN2Ac.2676C>T (p.Val892=)
c.*995C>T (n.*995C>T)
c.*663C>T (n.*663C>T)
c.*3199C>T (n.*3199C>T)
c.*618C>T (n.*618C>T)
c.2280C>T (p.Val760=)
c.114C>T (p.Val38=)
c.527C>T
n.2819C>T
c.2646C>T (p.Val882=)
c.1923C>T (p.Val641=)
c.474C>T (p.Val158=)
2g.165344669T>ACA349014362SCN2Ac.2677T>A (p.Phe893Ile)
c.*996T>A (n.*996T>A)
c.*664T>A (n.*664T>A)
c.*3200T>A (n.*3200T>A)
c.*619T>A (n.*619T>A)
c.2281T>A (p.Phe761Ile)
c.115T>A (p.Phe39Ile)
c.528T>A
n.2820T>A
c.2647T>A (p.Phe883Ile)
c.1924T>A (p.Phe642Ile)
c.475T>A (p.Phe159Ile)
2g.165344669T>CCA349014371SCN2Ac.2677T>C (p.Phe893Leu)
c.*996T>C (n.*996T>C)
c.*664T>C (n.*664T>C)
c.*3200T>C (n.*3200T>C)
c.*619T>C (n.*619T>C)
c.2281T>C (p.Phe761Leu)
c.115T>C (p.Phe39Leu)
c.528T>C
n.2820T>C
c.2647T>C (p.Phe883Leu)
c.1924T>C (p.Phe642Leu)
c.475T>C (p.Phe159Leu)
2g.165344669T>GCA349014365SCN2Ac.2677T>G (p.Phe893Val)
c.*996T>G (n.*996T>G)
c.*664T>G (n.*664T>G)
c.*3200T>G (n.*3200T>G)
c.*619T>G (n.*619T>G)
c.2281T>G (p.Phe761Val)
c.115T>G (p.Phe39Val)
c.528T>G
n.2820T>G
c.2647T>G (p.Phe883Val)
c.1924T>G (p.Phe642Val)
c.475T>G (p.Phe159Val)
2g.165344670T>ACA349014375SCN2Ac.2678T>A (p.Phe893Tyr)
c.*997T>A (n.*997T>A)
c.*665T>A (n.*665T>A)
c.*3201T>A (n.*3201T>A)
c.*620T>A (n.*620T>A)
c.2282T>A (p.Phe761Tyr)
c.116T>A (p.Phe39Tyr)
c.529T>A
n.2821T>A
c.2648T>A (p.Phe883Tyr)
c.1925T>A (p.Phe642Tyr)
c.476T>A (p.Phe159Tyr)
2g.165344670T>CCA349014378SCN2Ac.2678T>C (p.Phe893Ser)
c.*997T>C (n.*997T>C)
c.*665T>C (n.*665T>C)
c.*3201T>C (n.*3201T>C)
c.*620T>C (n.*620T>C)
c.2282T>C (p.Phe761Ser)
c.116T>C (p.Phe39Ser)
c.529T>C
n.2821T>C
c.2648T>C (p.Phe883Ser)
c.1925T>C (p.Phe642Ser)
c.476T>C (p.Phe159Ser)
2g.165344670T>GCA349014381SCN2Ac.2678T>G (p.Phe893Cys)
c.*997T>G (n.*997T>G)
c.*665T>G (n.*665T>G)
c.*3201T>G (n.*3201T>G)
c.*620T>G (n.*620T>G)
c.2282T>G (p.Phe761Cys)
c.116T>G (p.Phe39Cys)
c.529T>G
n.2821T>G
c.2648T>G (p.Phe883Cys)
c.1925T>G (p.Phe642Cys)
c.476T>G (p.Phe159Cys)
2g.165344671C>ACA349014385SCN2Ac.2679C>A (p.Phe893Leu)
c.*998C>A (n.*998C>A)
c.*666C>A (n.*666C>A)
c.*3202C>A (n.*3202C>A)
c.*621C>A (n.*621C>A)
c.2283C>A (p.Phe761Leu)
c.117C>A (p.Phe39Leu)
c.530C>A
n.2822C>A
c.2649C>A (p.Phe883Leu)
c.1926C>A (p.Phe642Leu)
c.477C>A (p.Phe159Leu)
2g.165344671C=CA1304545486SCN2Ac.2679C= (p.Phe893=)
c.*998C= (n.*998C=)
c.*666C= (n.*666C=)
c.*3202C= (n.*3202C=)
c.*621C= (n.*621C=)
c.2283C= (p.Phe761=)
c.117C= (p.Phe39=)
c.530C=
n.2822C=
c.2649C= (p.Phe883=)
c.1926C= (p.Phe642=)
c.477C= (p.Phe159=)
2g.165344671C>GCA349014389SCN2Ac.2679C>G (p.Phe893Leu)
c.*998C>G (n.*998C>G)
c.*666C>G (n.*666C>G)
c.*3202C>G (n.*3202C>G)
c.*621C>G (n.*621C>G)
c.2283C>G (p.Phe761Leu)
c.117C>G (p.Phe39Leu)
c.530C>G
n.2822C>G
c.2649C>G (p.Phe883Leu)
c.1926C>G (p.Phe642Leu)
c.477C>G (p.Phe159Leu)
2g.165344671C>TCA59719987SCN2Ac.2679C>T (p.Phe893=)
c.*998C>T (n.*998C>T)
c.*666C>T (n.*666C>T)
c.*3202C>T (n.*3202C>T)
c.*621C>T (n.*621C>T)
c.2283C>T (p.Phe761=)
c.117C>T (p.Phe39=)
c.530C>T
n.2822C>T
c.2649C>T (p.Phe883=)
c.1926C>T (p.Phe642=)
c.477C>T (p.Phe159=)
 dbSNP
2g.165344672A>CCA349014392SCN2Ac.2680A>C (p.Ile894Leu)
c.*999A>C (n.*999A>C)
c.*667A>C (n.*667A>C)
c.*3203A>C (n.*3203A>C)
c.*622A>C (n.*622A>C)
c.2284A>C (p.Ile762Leu)
c.118A>C (p.Ile40Leu)
c.531A>C
n.2823A>C
c.2650A>C (p.Ile884Leu)
c.1927A>C (p.Ile643Leu)
c.478A>C (p.Ile160Leu)
 ClinVar dbSNP
2g.165344672A>GCA349014400SCN2Ac.2680A>G (p.Ile894Val)
c.*999A>G (n.*999A>G)
c.*667A>G (n.*667A>G)
c.*3203A>G (n.*3203A>G)
c.*622A>G (n.*622A>G)
c.2284A>G (p.Ile762Val)
c.118A>G (p.Ile40Val)
c.531A>G
n.2823A>G
c.2650A>G (p.Ile884Val)
c.1927A>G (p.Ile643Val)
c.478A>G (p.Ile160Val)
 gnomAD v4
2g.165344672A>TCA349014396SCN2Ac.2680A>T (p.Ile894Phe)
c.*999A>T (n.*999A>T)
c.*667A>T (n.*667A>T)
c.*3203A>T (n.*3203A>T)
c.*622A>T (n.*622A>T)
c.2284A>T (p.Ile762Phe)
c.118A>T (p.Ile40Phe)
c.531A>T
n.2823A>T
c.2650A>T (p.Ile884Phe)
c.1927A>T (p.Ile643Phe)
c.478A>T (p.Ile160Phe)
2g.165344672_165344678delinsCTTTTTTCA2573133612SCN2Ac.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer)
c.*999_*1005delinsCTTTTTT (n.*999_*1005delinsCTTTTTT)
c.*667_*673delinsCTTTTTT (n.*667_*673delinsCTTTTTT)
c.*3203_*3209delinsCTTTTTT (n.*3203_*3209delinsCTTTTTT)
c.*622_*628delinsCTTTTTT (n.*622_*628delinsCTTTTTT)
c.2284_2290delinsCTTTTTT (p.Ile762_Ala764delinsLeuPheSer)
c.118_124delinsCTTTTTT (p.Ile40_Ala42delinsLeuPheSer)
c.531_537delinsCTTTTTT
n.2823_2829delinsCTTTTTT
c.2650_2656delinsCTTTTTT (p.Ile884_Ala886delinsLeuPheSer)
c.1927_1933delinsCTTTTTT (p.Ile643_Ala645delinsLeuPheSer)
c.478_484delinsCTTTTTT (p.Ile160_Ala162delinsLeuPheSer)
 ClinVar dbSNP
2g.165344673T>ACA349014404SCN2Ac.2681T>A (p.Ile894Asn)
c.*1000T>A (n.*1000T>A)
c.*668T>A (n.*668T>A)
c.*3204T>A (n.*3204T>A)
c.*623T>A (n.*623T>A)
c.2285T>A (p.Ile762Asn)
c.119T>A (p.Ile40Asn)
c.532T>A
n.2824T>A
c.2651T>A (p.Ile884Asn)
c.1928T>A (p.Ile643Asn)
c.479T>A (p.Ile160Asn)
2g.165344673T>CCA349014407SCN2Ac.2681T>C (p.Ile894Thr)
c.*1000T>C (n.*1000T>C)
c.*668T>C (n.*668T>C)
c.*3204T>C (n.*3204T>C)
c.*623T>C (n.*623T>C)
c.2285T>C (p.Ile762Thr)
c.119T>C (p.Ile40Thr)
c.532T>C
n.2824T>C
c.2651T>C (p.Ile884Thr)
c.1928T>C (p.Ile643Thr)
c.479T>C (p.Ile160Thr)
2g.165344673T>GCA349014412SCN2Ac.2681T>G (p.Ile894Ser)
c.*1000T>G (n.*1000T>G)
c.*668T>G (n.*668T>G)
c.*3204T>G (n.*3204T>G)
c.*623T>G (n.*623T>G)
c.2285T>G (p.Ile762Ser)
c.119T>G (p.Ile40Ser)
c.532T>G
n.2824T>G
c.2651T>G (p.Ile884Ser)
c.1928T>G (p.Ile643Ser)
c.479T>G (p.Ile160Ser)
2g.165344673T=CA1304545487SCN2Ac.2681T= (p.Ile894=)
c.*1000T= (n.*1000T=)
c.*668T= (n.*668T=)
c.*3204T= (n.*3204T=)
c.*623T= (n.*623T=)
c.2285T= (p.Ile762=)
c.119T= (p.Ile40=)
c.532T=
n.2824T=
c.2651T= (p.Ile884=)
c.1928T= (p.Ile643=)
c.479T= (p.Ile160=)
2g.165344674T>ACA429972095SCN2Ac.2682T>A (p.Ile894=)
c.*1001T>A (n.*1001T>A)
c.*669T>A (n.*669T>A)
c.*3205T>A (n.*3205T>A)
c.*624T>A (n.*624T>A)
c.2286T>A (p.Ile762=)
c.120T>A (p.Ile40=)
c.533T>A
n.2825T>A
c.2652T>A (p.Ile884=)
c.1929T>A (p.Ile643=)
c.480T>A (p.Ile160=)
2g.165344674T>CCA429972097SCN2Ac.2682T>C (p.Ile894=)
c.*1001T>C (n.*1001T>C)
c.*669T>C (n.*669T>C)
c.*3205T>C (n.*3205T>C)
c.*624T>C (n.*624T>C)
c.2286T>C (p.Ile762=)
c.120T>C (p.Ile40=)
c.533T>C
n.2825T>C
c.2652T>C (p.Ile884=)
c.1929T>C (p.Ile643=)
c.480T>C (p.Ile160=)
2g.165344674T>GCA349014417SCN2Ac.2682T>G (p.Ile894Met)
c.*1001T>G (n.*1001T>G)
c.*669T>G (n.*669T>G)
c.*3205T>G (n.*3205T>G)
c.*624T>G (n.*624T>G)
c.2286T>G (p.Ile762Met)
c.120T>G (p.Ile40Met)
c.533T>G
n.2825T>G
c.2652T>G (p.Ile884Met)
c.1929T>G (p.Ile643Met)
c.480T>G (p.Ile160Met)
2g.165344675T>ACA349014420SCN2Ac.2683T>A (p.Phe895Ile)
c.*1002T>A (n.*1002T>A)
c.*670T>A (n.*670T>A)
c.*3206T>A (n.*3206T>A)
c.*625T>A (n.*625T>A)
c.2287T>A (p.Phe763Ile)
c.121T>A (p.Phe41Ile)
c.534T>A
n.2826T>A
c.2653T>A (p.Phe885Ile)
c.1930T>A (p.Phe644Ile)
c.481T>A (p.Phe161Ile)
2g.165344675T>CCA349014421SCN2Ac.2683T>C (p.Phe895Leu)
c.*1002T>C (n.*1002T>C)
c.*670T>C (n.*670T>C)
c.*3206T>C (n.*3206T>C)
c.*625T>C (n.*625T>C)
c.2287T>C (p.Phe763Leu)
c.121T>C (p.Phe41Leu)
c.534T>C
n.2826T>C
c.2653T>C (p.Phe885Leu)
c.1930T>C (p.Phe644Leu)
c.481T>C (p.Phe161Leu)
2g.165344675T>GCA349014424SCN2Ac.2683T>G (p.Phe895Val)
c.*1002T>G (n.*1002T>G)
c.*670T>G (n.*670T>G)
c.*3206T>G (n.*3206T>G)
c.*625T>G (n.*625T>G)
c.2287T>G (p.Phe763Val)
c.121T>G (p.Phe41Val)
c.534T>G
n.2826T>G
c.2653T>G (p.Phe885Val)
c.1930T>G (p.Phe644Val)
c.481T>G (p.Phe161Val)
2g.165344676T>ACA349014427SCN2Ac.2684T>A (p.Phe895Tyr)
c.*1003T>A (n.*1003T>A)
c.*671T>A (n.*671T>A)
c.*3207T>A (n.*3207T>A)
c.*626T>A (n.*626T>A)
c.2288T>A (p.Phe763Tyr)
c.122T>A (p.Phe41Tyr)
c.535T>A
n.2827T>A
c.2654T>A (p.Phe885Tyr)
c.1931T>A (p.Phe644Tyr)
c.482T>A (p.Phe161Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165344676T>CCA349014428SCN2Ac.2684T>C (p.Phe895Ser)
c.*1003T>C (n.*1003T>C)
c.*671T>C (n.*671T>C)
c.*3207T>C (n.*3207T>C)
c.*626T>C (n.*626T>C)
c.2288T>C (p.Phe763Ser)
c.122T>C (p.Phe41Ser)
c.535T>C
n.2827T>C
c.2654T>C (p.Phe885Ser)
c.1931T>C (p.Phe644Ser)
c.482T>C (p.Phe161Ser)
2g.165344676T>GCA349014429SCN2Ac.2684T>G (p.Phe895Cys)
c.*1003T>G (n.*1003T>G)
c.*671T>G (n.*671T>G)
c.*3207T>G (n.*3207T>G)
c.*626T>G (n.*626T>G)
c.2288T>G (p.Phe763Cys)
c.122T>G (p.Phe41Cys)
c.535T>G
n.2827T>G
c.2654T>G (p.Phe885Cys)
c.1931T>G (p.Phe644Cys)
c.482T>G (p.Phe161Cys)
2g.165344676T=CA1304545488SCN2Ac.2684T= (p.Phe895=)
c.*1003T= (n.*1003T=)
c.*671T= (n.*671T=)
c.*3207T= (n.*3207T=)
c.*626T= (n.*626T=)
c.2288T= (p.Phe763=)
c.122T= (p.Phe41=)
c.535T=
n.2827T=
c.2654T= (p.Phe885=)
c.1931T= (p.Phe644=)
c.482T= (p.Phe161=)
2g.165344677T>ACA349014430SCN2Ac.2685T>A (p.Phe895Leu)
c.*1004T>A (n.*1004T>A)
c.*672T>A (n.*672T>A)
c.*3208T>A (n.*3208T>A)
c.*627T>A (n.*627T>A)
c.2289T>A (p.Phe763Leu)
c.123T>A (p.Phe41Leu)
c.536T>A
n.2828T>A
c.2655T>A (p.Phe885Leu)
c.1932T>A (p.Phe644Leu)
c.483T>A (p.Phe161Leu)
2g.165344677T>CCA429972109SCN2Ac.2685T>C (p.Phe895=)
c.*1004T>C (n.*1004T>C)
c.*672T>C (n.*672T>C)
c.*3208T>C (n.*3208T>C)
c.*627T>C (n.*627T>C)
c.2289T>C (p.Phe763=)
c.123T>C (p.Phe41=)
c.536T>C
n.2828T>C
c.2655T>C (p.Phe885=)
c.1932T>C (p.Phe644=)
c.483T>C (p.Phe161=)
2g.165344677T>GCA349014431SCN2Ac.2685T>G (p.Phe895Leu)
c.*1004T>G (n.*1004T>G)
c.*672T>G (n.*672T>G)
c.*3208T>G (n.*3208T>G)
c.*627T>G (n.*627T>G)
c.2289T>G (p.Phe763Leu)
c.123T>G (p.Phe41Leu)
c.536T>G
n.2828T>G
c.2655T>G (p.Phe885Leu)
c.1932T>G (p.Phe644Leu)
c.483T>G (p.Phe161Leu)
2g.165344678G>ACA349014437SCN2Ac.2686G>A (p.Ala896Thr)
c.*1005G>A (n.*1005G>A)
c.*673G>A (n.*673G>A)
c.*3209G>A (n.*3209G>A)
c.*628G>A (n.*628G>A)
c.2290G>A (p.Ala764Thr)
c.124G>A (p.Ala42Thr)
c.537G>A
n.2829G>A
c.2656G>A (p.Ala886Thr)
c.1933G>A (p.Ala645Thr)
c.484G>A (p.Ala162Thr)
2g.165344678G>CCA349014442SCN2Ac.2686G>C (p.Ala896Pro)
c.*1005G>C (n.*1005G>C)
c.*673G>C (n.*673G>C)
c.*3209G>C (n.*3209G>C)
c.*628G>C (n.*628G>C)
c.2290G>C (p.Ala764Pro)
c.124G>C (p.Ala42Pro)
c.537G>C
n.2829G>C
c.2656G>C (p.Ala886Pro)
c.1933G>C (p.Ala645Pro)
c.484G>C (p.Ala162Pro)
 gnomAD v4
2g.165344678G>TCA349014439SCN2Ac.2686G>T (p.Ala896Ser)
c.*1005G>T (n.*1005G>T)
c.*673G>T (n.*673G>T)
c.*3209G>T (n.*3209G>T)
c.*628G>T (n.*628G>T)
c.2290G>T (p.Ala764Ser)
c.124G>T (p.Ala42Ser)
c.537G>T
n.2829G>T
c.2656G>T (p.Ala886Ser)
c.1933G>T (p.Ala645Ser)
c.484G>T (p.Ala162Ser)
 ClinVar dbSNP
2g.165344679C>ACA349014444SCN2Ac.2687C>A (p.Ala896Asp)
c.*1006C>A (n.*1006C>A)
c.*674C>A (n.*674C>A)
c.*3210C>A (n.*3210C>A)
c.*629C>A (n.*629C>A)
c.2291C>A (p.Ala764Asp)
c.125C>A (p.Ala42Asp)
c.538C>A
n.2830C>A
c.2657C>A (p.Ala886Asp)
c.1934C>A (p.Ala645Asp)
c.485C>A (p.Ala162Asp)
2g.165344679C=CA1304545489SCN2Ac.2687C= (p.Ala896=)
c.*1006C= (n.*1006C=)
c.*674C= (n.*674C=)
c.*3210C= (n.*3210C=)
c.*629C= (n.*629C=)
c.2291C= (p.Ala764=)
c.125C= (p.Ala42=)
c.538C=
n.2830C=
c.2657C= (p.Ala886=)
c.1934C= (p.Ala645=)
c.485C= (p.Ala162=)
2g.165344679C>GCA349014445SCN2Ac.2687C>G (p.Ala896Gly)
c.*1006C>G (n.*1006C>G)
c.*674C>G (n.*674C>G)
c.*3210C>G (n.*3210C>G)
c.*629C>G (n.*629C>G)
c.2291C>G (p.Ala764Gly)
c.125C>G (p.Ala42Gly)
c.538C>G
n.2830C>G
c.2657C>G (p.Ala886Gly)
c.1934C>G (p.Ala645Gly)
c.485C>G (p.Ala162Gly)
2g.165344679C>TCA16044307SCN2Ac.2687C>T (p.Ala896Val)
c.*1006C>T (n.*1006C>T)
c.*674C>T (n.*674C>T)
c.*3210C>T (n.*3210C>T)
c.*629C>T (n.*629C>T)
c.2291C>T (p.Ala764Val)
c.125C>T (p.Ala42Val)
c.538C>T
n.2830C>T
c.2657C>T (p.Ala886Val)
c.1934C>T (p.Ala645Val)
c.485C>T (p.Ala162Val)
 ClinVar dbSNP
2g.165344680T>ACA429972124SCN2Ac.2688T>A (p.Ala896=)
c.*1007T>A (n.*1007T>A)
c.*675T>A (n.*675T>A)
c.*3211T>A (n.*3211T>A)
c.*630T>A (n.*630T>A)
c.2292T>A (p.Ala764=)
c.126T>A (p.Ala42=)
c.539T>A
n.2831T>A
c.2658T>A (p.Ala886=)
c.1935T>A (p.Ala645=)
c.486T>A (p.Ala162=)
2g.165344680T>CCA429972126SCN2Ac.2688T>C (p.Ala896=)
c.*1007T>C (n.*1007T>C)
c.*675T>C (n.*675T>C)
c.*3211T>C (n.*3211T>C)
c.*630T>C (n.*630T>C)
c.2292T>C (p.Ala764=)
c.126T>C (p.Ala42=)
c.539T>C
n.2831T>C
c.2658T>C (p.Ala886=)
c.1935T>C (p.Ala645=)
c.486T>C (p.Ala162=)
 dbSNP gnomAD v3 gnomAD v4
2g.165344680T>GCA429972125SCN2Ac.2688T>G (p.Ala896=)
c.*1007T>G (n.*1007T>G)
c.*675T>G (n.*675T>G)
c.*3211T>G (n.*3211T>G)
c.*630T>G (n.*630T>G)
c.2292T>G (p.Ala764=)
c.126T>G (p.Ala42=)
c.539T>G
n.2831T>G
c.2658T>G (p.Ala886=)
c.1935T>G (p.Ala645=)
c.486T>G (p.Ala162=)
2g.165344680T=CA1304545490SCN2Ac.2688T= (p.Ala896=)
c.*1007T= (n.*1007T=)
c.*675T= (n.*675T=)
c.*3211T= (n.*3211T=)
c.*630T= (n.*630T=)
c.2292T= (p.Ala764=)
c.126T= (p.Ala42=)
c.539T=
n.2831T=
c.2658T= (p.Ala886=)
c.1935T= (p.Ala645=)
c.486T= (p.Ala162=)
2g.165344681G>ACA349014448SCN2Ac.2689G>A (p.Val897Met)
c.*1008G>A (n.*1008G>A)
c.*676G>A (n.*676G>A)
c.*3212G>A (n.*3212G>A)
c.*631G>A (n.*631G>A)
c.2293G>A (p.Val765Met)
c.127G>A (p.Val43Met)
c.540G>A
n.2832G>A
c.2659G>A (p.Val887Met)
c.1936G>A (p.Val646Met)
c.487G>A (p.Val163Met)
 dbSNP gnomAD v3 gnomAD v4
2g.165344681G>CCA349014450SCN2Ac.2689G>C (p.Val897Leu)
c.*1008G>C (n.*1008G>C)
c.*676G>C (n.*676G>C)
c.*3212G>C (n.*3212G>C)
c.*631G>C (n.*631G>C)
c.2293G>C (p.Val765Leu)
c.127G>C (p.Val43Leu)
c.540G>C
n.2832G>C
c.2659G>C (p.Val887Leu)
c.1936G>C (p.Val646Leu)
c.487G>C (p.Val163Leu)
2g.165344681G=CA1304545491SCN2Ac.2689G= (p.Val897=)
c.*1008G= (n.*1008G=)
c.*676G= (n.*676G=)
c.*3212G= (n.*3212G=)
c.*631G= (n.*631G=)
c.2293G= (p.Val765=)
c.127G= (p.Val43=)
c.540G=
n.2832G=
c.2659G= (p.Val887=)
c.1936G= (p.Val646=)
c.487G= (p.Val163=)
2g.165344681G>TCA349014453SCN2Ac.2689G>T (p.Val897Leu)
c.*1008G>T (n.*1008G>T)
c.*676G>T (n.*676G>T)
c.*3212G>T (n.*3212G>T)
c.*631G>T (n.*631G>T)
c.2293G>T (p.Val765Leu)
c.127G>T (p.Val43Leu)
c.540G>T
n.2832G>T
c.2659G>T (p.Val887Leu)
c.1936G>T (p.Val646Leu)
c.487G>T (p.Val163Leu)
2g.165344682T>ACA349014455SCN2Ac.2690T>A (p.Val897Glu)
c.*1009T>A (n.*1009T>A)
c.*677T>A (n.*677T>A)
c.*3213T>A (n.*3213T>A)
c.*632T>A (n.*632T>A)
c.2294T>A (p.Val765Glu)
c.128T>A (p.Val43Glu)
c.541T>A
n.2833T>A
c.2660T>A (p.Val887Glu)
c.1937T>A (p.Val646Glu)
c.488T>A (p.Val163Glu)
2g.165344682T>CCA349014456SCN2Ac.2690T>C (p.Val897Ala)
c.*1009T>C (n.*1009T>C)
c.*677T>C (n.*677T>C)
c.*3213T>C (n.*3213T>C)
c.*632T>C (n.*632T>C)
c.2294T>C (p.Val765Ala)
c.128T>C (p.Val43Ala)
c.541T>C
n.2833T>C
c.2660T>C (p.Val887Ala)
c.1937T>C (p.Val646Ala)
c.488T>C (p.Val163Ala)
2g.165344682T>GCA349014457SCN2Ac.2690T>G (p.Val897Gly)
c.*1009T>G (n.*1009T>G)
c.*677T>G (n.*677T>G)
c.*3213T>G (n.*3213T>G)
c.*632T>G (n.*632T>G)
c.2294T>G (p.Val765Gly)
c.128T>G (p.Val43Gly)
c.541T>G
n.2833T>G
c.2660T>G (p.Val887Gly)
c.1937T>G (p.Val646Gly)
c.488T>G (p.Val163Gly)
2g.165344683G>ACA429972134SCN2Ac.2691G>A (p.Val897=)
c.*1010G>A (n.*1010G>A)
c.*678G>A (n.*678G>A)
c.*3214G>A (n.*3214G>A)
c.*633G>A (n.*633G>A)
c.2295G>A (p.Val765=)
c.129G>A (p.Val43=)
c.542G>A
n.2834G>A
c.2661G>A (p.Val887=)
c.1938G>A (p.Val646=)
c.489G>A (p.Val163=)
2g.165344683G>CCA429972136SCN2Ac.2691G>C (p.Val897=)
c.*1010G>C (n.*1010G>C)
c.*678G>C (n.*678G>C)
c.*3214G>C (n.*3214G>C)
c.*633G>C (n.*633G>C)
c.2295G>C (p.Val765=)
c.129G>C (p.Val43=)
c.542G>C
n.2834G>C
c.2661G>C (p.Val887=)
c.1938G>C (p.Val646=)
c.489G>C (p.Val163=)
2g.165344683G>TCA429972138SCN2Ac.2691G>T (p.Val897=)
c.*1010G>T (n.*1010G>T)
c.*678G>T (n.*678G>T)
c.*3214G>T (n.*3214G>T)
c.*633G>T (n.*633G>T)
c.2295G>T (p.Val765=)
c.129G>T (p.Val43=)
c.542G>T
n.2834G>T
c.2661G>T (p.Val887=)
c.1938G>T (p.Val646=)
c.489G>T (p.Val163=)
2g.165344684G>ACA349014458SCN2Ac.2692G>A (p.Val898Ile)
c.*1011G>A (n.*1011G>A)
c.*679G>A (n.*679G>A)
c.*3215G>A (n.*3215G>A)
c.*634G>A (n.*634G>A)
c.2296G>A (p.Val766Ile)
c.130G>A (p.Val44Ile)
c.543G>A
n.2835G>A
c.2662G>A (p.Val888Ile)
c.1939G>A (p.Val647Ile)
c.490G>A (p.Val164Ile)
2g.165344684G>CCA349014459SCN2Ac.2692G>C (p.Val898Leu)
c.*1011G>C (n.*1011G>C)
c.*679G>C (n.*679G>C)
c.*3215G>C (n.*3215G>C)
c.*634G>C (n.*634G>C)
c.2296G>C (p.Val766Leu)
c.130G>C (p.Val44Leu)
c.543G>C
n.2835G>C
c.2662G>C (p.Val888Leu)
c.1939G>C (p.Val647Leu)
c.490G>C (p.Val164Leu)
2g.165344684G>TCA349014463SCN2Ac.2692G>T (p.Val898Phe)
c.*1011G>T (n.*1011G>T)
c.*679G>T (n.*679G>T)
c.*3215G>T (n.*3215G>T)
c.*634G>T (n.*634G>T)
c.2296G>T (p.Val766Phe)
c.130G>T (p.Val44Phe)
c.543G>T
n.2835G>T
c.2662G>T (p.Val888Phe)
c.1939G>T (p.Val647Phe)
c.490G>T (p.Val164Phe)
2g.165344685T>ACA349014484SCN2Ac.2693T>A (p.Val898Asp)
c.*1012T>A (n.*1012T>A)
c.*680T>A (n.*680T>A)
c.*3216T>A (n.*3216T>A)
c.*635T>A (n.*635T>A)
c.2297T>A (p.Val766Asp)
c.131T>A (p.Val44Asp)
c.544T>A
n.2836T>A
c.2663T>A (p.Val888Asp)
c.1940T>A (p.Val647Asp)
c.491T>A (p.Val164Asp)
2g.165344685T>CCA349014480SCN2Ac.2693T>C (p.Val898Ala)
c.*1012T>C (n.*1012T>C)
c.*680T>C (n.*680T>C)
c.*3216T>C (n.*3216T>C)
c.*635T>C (n.*635T>C)
c.2297T>C (p.Val766Ala)
c.131T>C (p.Val44Ala)
c.544T>C
n.2836T>C
c.2663T>C (p.Val888Ala)
c.1940T>C (p.Val647Ala)
c.491T>C (p.Val164Ala)
2g.165344685T>GCA349014477SCN2Ac.2693T>G (p.Val898Gly)
c.*1012T>G (n.*1012T>G)
c.*680T>G (n.*680T>G)
c.*3216T>G (n.*3216T>G)
c.*635T>G (n.*635T>G)
c.2297T>G (p.Val766Gly)
c.131T>G (p.Val44Gly)
c.544T>G
n.2836T>G
c.2663T>G (p.Val888Gly)
c.1940T>G (p.Val647Gly)
c.491T>G (p.Val164Gly)
2g.165344686C>ACA429972146SCN2Ac.2694C>A (p.Val898=)
c.*1013C>A (n.*1013C>A)
c.*681C>A (n.*681C>A)
c.*3217C>A (n.*3217C>A)
c.*636C>A (n.*636C>A)
c.2298C>A (p.Val766=)
c.132C>A (p.Val44=)
c.545C>A
n.2837C>A
c.2664C>A (p.Val888=)
c.1941C>A (p.Val647=)
c.492C>A (p.Val164=)
2g.165344686C=CA1304545492SCN2Ac.2694C= (p.Val898=)
c.*1013C= (n.*1013C=)
c.*681C= (n.*681C=)
c.*3217C= (n.*3217C=)
c.*636C= (n.*636C=)
c.2298C= (p.Val766=)
c.132C= (p.Val44=)
c.545C=
n.2837C=
c.2664C= (p.Val888=)
c.1941C= (p.Val647=)
c.492C= (p.Val164=)
2g.165344686C>GCA429972147SCN2Ac.2694C>G (p.Val898=)
c.*1013C>G (n.*1013C>G)
c.*681C>G (n.*681C>G)
c.*3217C>G (n.*3217C>G)
c.*636C>G (n.*636C>G)
c.2298C>G (p.Val766=)
c.132C>G (p.Val44=)
c.545C>G
n.2837C>G
c.2664C>G (p.Val888=)
c.1941C>G (p.Val647=)
c.492C>G (p.Val164=)
 ClinVar dbSNP
2g.165344686C>TCA59719990SCN2Ac.2694C>T (p.Val898=)
c.*1013C>T (n.*1013C>T)
c.*681C>T (n.*681C>T)
c.*3217C>T (n.*3217C>T)
c.*636C>T (n.*636C>T)
c.2298C>T (p.Val766=)
c.132C>T (p.Val44=)
c.545C>T
n.2837C>T
c.2664C>T (p.Val888=)
c.1941C>T (p.Val647=)
c.492C>T (p.Val164=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165344687G>ACA317892SCN2Ac.2695G>A (p.Gly899Ser)
c.*1014G>A (n.*1014G>A)
c.*682G>A (n.*682G>A)
c.*3218G>A (n.*3218G>A)
c.*637G>A (n.*637G>A)
c.2299G>A (p.Gly767Ser)
c.133G>A (p.Gly45Ser)
c.546G>A
n.2838G>A
c.2665G>A (p.Gly889Ser)
c.1942G>A (p.Gly648Ser)
c.493G>A (p.Gly165Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165344687G>CCA349014495SCN2Ac.2695G>C (p.Gly899Arg)
c.*1014G>C (n.*1014G>C)
c.*682G>C (n.*682G>C)
c.*3218G>C (n.*3218G>C)
c.*637G>C (n.*637G>C)
c.2299G>C (p.Gly767Arg)
c.133G>C (p.Gly45Arg)
c.546G>C
n.2838G>C
c.2665G>C (p.Gly889Arg)
c.1942G>C (p.Gly648Arg)
c.493G>C (p.Gly165Arg)
2g.165344687G=CA1304545493SCN2Ac.2695G= (p.Gly899=)
c.*1014G= (n.*1014G=)
c.*682G= (n.*682G=)
c.*3218G= (n.*3218G=)
c.*637G= (n.*637G=)
c.2299G= (p.Gly767=)
c.133G= (p.Gly45=)
c.546G=
n.2838G=
c.2665G= (p.Gly889=)
c.1942G= (p.Gly648=)
c.493G= (p.Gly165=)
2g.165344687G>TCA349014499SCN2Ac.2695G>T (p.Gly899Cys)
c.*1014G>T (n.*1014G>T)
c.*682G>T (n.*682G>T)
c.*3218G>T (n.*3218G>T)
c.*637G>T (n.*637G>T)
c.2299G>T (p.Gly767Cys)
c.133G>T (p.Gly45Cys)
c.546G>T
n.2838G>T
c.2665G>T (p.Gly889Cys)
c.1942G>T (p.Gly648Cys)
c.493G>T (p.Gly165Cys)
2g.165344688G>ACA317895SCN2Ac.2696G>A (p.Gly899Asp)
c.*1015G>A (n.*1015G>A)
c.*683G>A (n.*683G>A)
c.*3219G>A (n.*3219G>A)
c.*638G>A (n.*638G>A)
c.2300G>A (p.Gly767Asp)
c.134G>A (p.Gly45Asp)
c.547G>A
n.2839G>A
c.2666G>A (p.Gly889Asp)
c.1943G>A (p.Gly648Asp)
c.494G>A (p.Gly165Asp)
 ClinVar dbSNP
2g.165344688G>CCA349014508SCN2Ac.2696G>C (p.Gly899Ala)
c.*1015G>C (n.*1015G>C)
c.*683G>C (n.*683G>C)
c.*3219G>C (n.*3219G>C)
c.*638G>C (n.*638G>C)
c.2300G>C (p.Gly767Ala)
c.134G>C (p.Gly45Ala)
c.547G>C
n.2839G>C
c.2666G>C (p.Gly889Ala)
c.1943G>C (p.Gly648Ala)
c.494G>C (p.Gly165Ala)
2g.165344688G=CA1304545494SCN2Ac.2696G= (p.Gly899=)
c.*1015G= (n.*1015G=)
c.*683G= (n.*683G=)
c.*3219G= (n.*3219G=)
c.*638G= (n.*638G=)
c.2300G= (p.Gly767=)
c.134G= (p.Gly45=)
c.547G=
n.2839G=
c.2666G= (p.Gly889=)
c.1943G= (p.Gly648=)
c.494G= (p.Gly165=)
2g.165344688G>TCA349014512SCN2Ac.2696G>T (p.Gly899Val)
c.*1015G>T (n.*1015G>T)
c.*683G>T (n.*683G>T)
c.*3219G>T (n.*3219G>T)
c.*638G>T (n.*638G>T)
c.2300G>T (p.Gly767Val)
c.134G>T (p.Gly45Val)
c.547G>T
n.2839G>T
c.2666G>T (p.Gly889Val)
c.1943G>T (p.Gly648Val)
c.494G>T (p.Gly165Val)
2g.165344689C>ACA429972156SCN2Ac.2697C>A (p.Gly899=)
c.*1016C>A (n.*1016C>A)
c.*684C>A (n.*684C>A)
c.*3220C>A (n.*3220C>A)
c.*639C>A (n.*639C>A)
c.2301C>A (p.Gly767=)
c.135C>A (p.Gly45=)
c.548C>A
n.2840C>A
c.2667C>A (p.Gly889=)
c.1944C>A (p.Gly648=)
c.495C>A (p.Gly165=)
2g.165344689C>GCA429972155SCN2Ac.2697C>G (p.Gly899=)
c.*1016C>G (n.*1016C>G)
c.*684C>G (n.*684C>G)
c.*3220C>G (n.*3220C>G)
c.*639C>G (n.*639C>G)
c.2301C>G (p.Gly767=)
c.135C>G (p.Gly45=)
c.548C>G
n.2840C>G
c.2667C>G (p.Gly889=)
c.1944C>G (p.Gly648=)
c.495C>G (p.Gly165=)
2g.165344689C>TCA429972154SCN2Ac.2697C>T (p.Gly899=)
c.*1016C>T (n.*1016C>T)
c.*684C>T (n.*684C>T)
c.*3220C>T (n.*3220C>T)
c.*639C>T (n.*639C>T)
c.2301C>T (p.Gly767=)
c.135C>T (p.Gly45=)
c.548C>T
n.2840C>T
c.2667C>T (p.Gly889=)
c.1944C>T (p.Gly648=)
c.495C>T (p.Gly165=)
2g.165344690A=CA1304545495SCN2Ac.2698A= (p.Met900=)
c.*1017A= (n.*1017A=)
c.*685A= (n.*685A=)
c.*3221A= (n.*3221A=)
c.*640A= (n.*640A=)
c.2302A= (p.Met768=)
c.136A= (p.Met46=)
c.549A=
n.2841A=
c.2668A= (p.Met890=)
c.1945A= (p.Met649=)
c.496A= (p.Met166=)
2g.165344690A>CCA349014517SCN2Ac.2698A>C (p.Met900Leu)
c.*1017A>C (n.*1017A>C)
c.*685A>C (n.*685A>C)
c.*3221A>C (n.*3221A>C)
c.*640A>C (n.*640A>C)
c.2302A>C (p.Met768Leu)
c.136A>C (p.Met46Leu)
c.549A>C
n.2841A>C
c.2668A>C (p.Met890Leu)
c.1945A>C (p.Met649Leu)
c.496A>C (p.Met166Leu)
2g.165344690A>GCA59720001SCN2Ac.2698A>G (p.Met900Val)
c.*1017A>G (n.*1017A>G)
c.*685A>G (n.*685A>G)
c.*3221A>G (n.*3221A>G)
c.*640A>G (n.*640A>G)
c.2302A>G (p.Met768Val)
c.136A>G (p.Met46Val)
c.549A>G
n.2841A>G
c.2668A>G (p.Met890Val)
c.1945A>G (p.Met649Val)
c.496A>G (p.Met166Val)
 dbSNP
2g.165344690A>TCA349014526SCN2Ac.2698A>T (p.Met900Leu)
c.*1017A>T (n.*1017A>T)
c.*685A>T (n.*685A>T)
c.*3221A>T (n.*3221A>T)
c.*640A>T (n.*640A>T)
c.2302A>T (p.Met768Leu)
c.136A>T (p.Met46Leu)
c.549A>T
n.2841A>T
c.2668A>T (p.Met890Leu)
c.1945A>T (p.Met649Leu)
c.496A>T (p.Met166Leu)
2g.165344691T>ACA349014529SCN2Ac.2699T>A (p.Met900Lys)
c.*1018T>A (n.*1018T>A)
c.*686T>A (n.*686T>A)
c.*3222T>A (n.*3222T>A)
c.*641T>A (n.*641T>A)
c.2303T>A (p.Met768Lys)
c.137T>A (p.Met46Lys)
c.550T>A
n.2842T>A
c.2669T>A (p.Met890Lys)
c.1946T>A (p.Met649Lys)
c.497T>A (p.Met166Lys)
2g.165344691T>CCA349014537SCN2Ac.2699T>C (p.Met900Thr)
c.*1018T>C (n.*1018T>C)
c.*686T>C (n.*686T>C)
c.*3222T>C (n.*3222T>C)
c.*641T>C (n.*641T>C)
c.2303T>C (p.Met768Thr)
c.137T>C (p.Met46Thr)
c.550T>C
n.2842T>C
c.2669T>C (p.Met890Thr)
c.1946T>C (p.Met649Thr)
c.497T>C (p.Met166Thr)
2g.165344691T>GCA349014540SCN2Ac.2699T>G (p.Met900Arg)
c.*1018T>G (n.*1018T>G)
c.*686T>G (n.*686T>G)
c.*3222T>G (n.*3222T>G)
c.*641T>G (n.*641T>G)
c.2303T>G (p.Met768Arg)
c.137T>G (p.Met46Arg)
c.550T>G
n.2842T>G
c.2669T>G (p.Met890Arg)
c.1946T>G (p.Met649Arg)
c.497T>G (p.Met166Arg)
2g.165344692G>ACA349014563SCN2Ac.2700G>A (p.Met900Ile)
c.*1019G>A (n.*1019G>A)
c.*687G>A (n.*687G>A)
c.*3223G>A (n.*3223G>A)
c.*642G>A (n.*642G>A)
c.2304G>A (p.Met768Ile)
c.138G>A (p.Met46Ile)
c.551G>A
n.2843G>A
c.2670G>A (p.Met890Ile)
c.1947G>A (p.Met649Ile)
c.498G>A (p.Met166Ile)
2g.165344692G>CCA349014544SCN2Ac.2700G>C (p.Met900Ile)
c.*1019G>C (n.*1019G>C)
c.*687G>C (n.*687G>C)
c.*3223G>C (n.*3223G>C)
c.*642G>C (n.*642G>C)
c.2304G>C (p.Met768Ile)
c.138G>C (p.Met46Ile)
c.551G>C
n.2843G>C
c.2670G>C (p.Met890Ile)
c.1947G>C (p.Met649Ile)
c.498G>C (p.Met166Ile)
2g.165344692G>TCA349014560SCN2Ac.2700G>T (p.Met900Ile)
c.*1019G>T (n.*1019G>T)
c.*687G>T (n.*687G>T)
c.*3223G>T (n.*3223G>T)
c.*642G>T (n.*642G>T)
c.2304G>T (p.Met768Ile)
c.138G>T (p.Met46Ile)
c.551G>T
n.2843G>T
c.2670G>T (p.Met890Ile)
c.1947G>T (p.Met649Ile)
c.498G>T (p.Met166Ile)
2g.165344693C>ACA349014568SCN2Ac.2701C>A (p.Gln901Lys)
c.*1020C>A (n.*1020C>A)
c.*688C>A (n.*688C>A)
c.*3224C>A (n.*3224C>A)
c.*643C>A (n.*643C>A)
c.2305C>A (p.Gln769Lys)
c.139C>A (p.Gln47Lys)
c.552C>A
n.2844C>A
c.2671C>A (p.Gln891Lys)
c.1948C>A (p.Gln650Lys)
c.499C>A (p.Gln167Lys)
2g.165344693C=CA1304545496SCN2Ac.2701C= (p.Gln901=)
c.*1020C= (n.*1020C=)
c.*688C= (n.*688C=)
c.*3224C= (n.*3224C=)
c.*643C= (n.*643C=)
c.2305C= (p.Gln769=)
c.139C= (p.Gln47=)
c.552C=
n.2844C=
c.2671C= (p.Gln891=)
c.1948C= (p.Gln650=)
c.499C= (p.Gln167=)
2g.165344693C>GCA349014581SCN2Ac.2701C>G (p.Gln901Glu)
c.*1020C>G (n.*1020C>G)
c.*688C>G (n.*688C>G)
c.*3224C>G (n.*3224C>G)
c.*643C>G (n.*643C>G)
c.2305C>G (p.Gln769Glu)
c.139C>G (p.Gln47Glu)
c.552C>G
n.2844C>G
c.2671C>G (p.Gln891Glu)
c.1948C>G (p.Gln650Glu)
c.499C>G (p.Gln167Glu)
 ClinVar dbSNP
2g.165344693C>TCA349014572SCN2Ac.2701C>T (p.Gln901Ter)
c.*1020C>T (n.*1020C>T)
c.*688C>T (n.*688C>T)
c.*3224C>T (n.*3224C>T)
c.*643C>T (n.*643C>T)
c.2305C>T (p.Gln769Ter)
c.139C>T (p.Gln47Ter)
c.552C>T
n.2844C>T
c.2671C>T (p.Gln891Ter)
c.1948C>T (p.Gln650Ter)
c.499C>T (p.Gln167Ter)
2g.165344694A>CCA349014585SCN2Ac.2702A>C (p.Gln901Pro)
c.*1021A>C (n.*1021A>C)
c.*689A>C (n.*689A>C)
c.*3225A>C (n.*3225A>C)
c.*644A>C (n.*644A>C)
c.2306A>C (p.Gln769Pro)
c.140A>C (p.Gln47Pro)
c.553A>C
n.2845A>C
c.2672A>C (p.Gln891Pro)
c.1949A>C (p.Gln650Pro)
c.500A>C (p.Gln167Pro)
2g.165344694A>GCA349014588SCN2Ac.2702A>G (p.Gln901Arg)
c.*1021A>G (n.*1021A>G)
c.*689A>G (n.*689A>G)
c.*3225A>G (n.*3225A>G)
c.*644A>G (n.*644A>G)
c.2306A>G (p.Gln769Arg)
c.140A>G (p.Gln47Arg)
c.553A>G
n.2845A>G
c.2672A>G (p.Gln891Arg)
c.1949A>G (p.Gln650Arg)
c.500A>G (p.Gln167Arg)
2g.165344694A>TCA349014592SCN2Ac.2702A>T (p.Gln901Leu)
c.*1021A>T (n.*1021A>T)
c.*689A>T (n.*689A>T)
c.*3225A>T (n.*3225A>T)
c.*644A>T (n.*644A>T)
c.2306A>T (p.Gln769Leu)
c.140A>T (p.Gln47Leu)
c.553A>T
n.2845A>T
c.2672A>T (p.Gln891Leu)
c.1949A>T (p.Gln650Leu)
c.500A>T (p.Gln167Leu)
2g.165344695G>ACA429972176SCN2Ac.2703G>A (p.Gln901=)
c.*1022G>A (n.*1022G>A)
c.*690G>A (n.*690G>A)
c.*3226G>A (n.*3226G>A)
c.*645G>A (n.*645G>A)
c.2307G>A (p.Gln769=)
c.141G>A (p.Gln47=)
c.554G>A
n.2846G>A
c.2673G>A (p.Gln891=)
c.1950G>A (p.Gln650=)
c.501G>A (p.Gln167=)
2g.165344695G>CCA349014595SCN2Ac.2703G>C (p.Gln901His)
c.*1022G>C (n.*1022G>C)
c.*690G>C (n.*690G>C)
c.*3226G>C (n.*3226G>C)
c.*645G>C (n.*645G>C)
c.2307G>C (p.Gln769His)
c.141G>C (p.Gln47His)
c.554G>C
n.2846G>C
c.2673G>C (p.Gln891His)
c.1950G>C (p.Gln650His)
c.501G>C (p.Gln167His)
 ClinVar
2g.165344695G>TCA349014597SCN2Ac.2703G>T (p.Gln901His)
c.*1022G>T (n.*1022G>T)
c.*690G>T (n.*690G>T)
c.*3226G>T (n.*3226G>T)
c.*645G>T (n.*645G>T)
c.2307G>T (p.Gln769His)
c.141G>T (p.Gln47His)
c.554G>T
n.2846G>T
c.2673G>T (p.Gln891His)
c.1950G>T (p.Gln650His)
c.501G>T (p.Gln167His)
2g.165344696C>ACA349014625SCN2Ac.2704C>A (p.Leu902Ile)
c.*1023C>A (n.*1023C>A)
c.*691C>A (n.*691C>A)
c.*3227C>A (n.*3227C>A)
c.*646C>A (n.*646C>A)
c.2308C>A (p.Leu770Ile)
c.142C>A (p.Leu48Ile)
c.555C>A
n.2847C>A
c.2674C>A (p.Leu892Ile)
c.1951C>A (p.Leu651Ile)
c.502C>A (p.Leu168Ile)
2g.165344696C>GCA349014629SCN2Ac.2704C>G (p.Leu902Val)
c.*1023C>G (n.*1023C>G)
c.*691C>G (n.*691C>G)
c.*3227C>G (n.*3227C>G)
c.*646C>G (n.*646C>G)
c.2308C>G (p.Leu770Val)
c.142C>G (p.Leu48Val)
c.555C>G
n.2847C>G
c.2674C>G (p.Leu892Val)
c.1951C>G (p.Leu651Val)
c.502C>G (p.Leu168Val)
2g.165344696C>TCA349014633SCN2Ac.2704C>T (p.Leu902Phe)
c.*1023C>T (n.*1023C>T)
c.*691C>T (n.*691C>T)
c.*3227C>T (n.*3227C>T)
c.*646C>T (n.*646C>T)
c.2308C>T (p.Leu770Phe)
c.142C>T (p.Leu48Phe)
c.555C>T
n.2847C>T
c.2674C>T (p.Leu892Phe)
c.1951C>T (p.Leu651Phe)
c.502C>T (p.Leu168Phe)
2g.165344697T>ACA349014635SCN2Ac.2705T>A (p.Leu902His)
c.*1024T>A (n.*1024T>A)
c.*692T>A (n.*692T>A)
c.*3228T>A (n.*3228T>A)
c.*647T>A (n.*647T>A)
c.2309T>A (p.Leu770His)
c.143T>A (p.Leu48His)
c.556T>A
n.2848T>A
c.2675T>A (p.Leu892His)
c.1952T>A (p.Leu651His)
c.503T>A (p.Leu168His)
2g.165344697T>CCA349014637SCN2Ac.2705T>C (p.Leu902Pro)
c.*1024T>C (n.*1024T>C)
c.*692T>C (n.*692T>C)
c.*3228T>C (n.*3228T>C)
c.*647T>C (n.*647T>C)
c.2309T>C (p.Leu770Pro)
c.143T>C (p.Leu48Pro)
c.556T>C
n.2848T>C
c.2675T>C (p.Leu892Pro)
c.1952T>C (p.Leu651Pro)
c.503T>C (p.Leu168Pro)
2g.165344697T>GCA349014636SCN2Ac.2705T>G (p.Leu902Arg)
c.*1024T>G (n.*1024T>G)
c.*692T>G (n.*692T>G)
c.*3228T>G (n.*3228T>G)
c.*647T>G (n.*647T>G)
c.2309T>G (p.Leu770Arg)
c.143T>G (p.Leu48Arg)
c.556T>G
n.2848T>G
c.2675T>G (p.Leu892Arg)
c.1952T>G (p.Leu651Arg)
c.503T>G (p.Leu168Arg)
2g.165344698C>ACA429972188SCN2Ac.2706C>A (p.Leu902=)
c.*1025C>A (n.*1025C>A)
c.*693C>A (n.*693C>A)
c.*3229C>A (n.*3229C>A)
c.*648C>A (n.*648C>A)
c.2310C>A (p.Leu770=)
c.144C>A (p.Leu48=)
c.557C>A
n.2849C>A
c.2676C>A (p.Leu892=)
c.1953C>A (p.Leu651=)
c.504C>A (p.Leu168=)
2g.165344698C=CA1304545497SCN2Ac.2706C= (p.Leu902=)
c.*1025C= (n.*1025C=)
c.*693C= (n.*693C=)
c.*3229C= (n.*3229C=)
c.*648C= (n.*648C=)
c.2310C= (p.Leu770=)
c.144C= (p.Leu48=)
c.557C=
n.2849C=
c.2676C= (p.Leu892=)
c.1953C= (p.Leu651=)
c.504C= (p.Leu168=)
2g.165344698C>GCA1940014SCN2Ac.2706C>G (p.Leu902=)
c.*1025C>G (n.*1025C>G)
c.*693C>G (n.*693C>G)
c.*3229C>G (n.*3229C>G)
c.*648C>G (n.*648C>G)
c.2310C>G (p.Leu770=)
c.144C>G (p.Leu48=)
c.557C>G
n.2849C>G
c.2676C>G (p.Leu892=)
c.1953C>G (p.Leu651=)
c.504C>G (p.Leu168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165344698C>TCA429972193SCN2Ac.2706C>T (p.Leu902=)
c.*1025C>T (n.*1025C>T)
c.*693C>T (n.*693C>T)
c.*3229C>T (n.*3229C>T)
c.*648C>T (n.*648C>T)
c.2310C>T (p.Leu770=)
c.144C>T (p.Leu48=)
c.557C>T
n.2849C>T
c.2676C>T (p.Leu892=)
c.1953C>T (p.Leu651=)
c.504C>T (p.Leu168=)
2g.165344699T>ACA349014644SCN2Ac.2707T>A (p.Phe903Ile)
c.*1026T>A (n.*1026T>A)
c.*694T>A (n.*694T>A)
c.*3230T>A (n.*3230T>A)
c.*649T>A (n.*649T>A)
c.2311T>A (p.Phe771Ile)
c.145T>A (p.Phe49Ile)
c.558T>A
n.2850T>A
c.2677T>A (p.Phe893Ile)
c.1954T>A (p.Phe652Ile)
c.505T>A (p.Phe169Ile)
2g.165344699T>CCA349014645SCN2Ac.2707T>C (p.Phe903Leu)
c.*1026T>C (n.*1026T>C)
c.*694T>C (n.*694T>C)
c.*3230T>C (n.*3230T>C)
c.*649T>C (n.*649T>C)
c.2311T>C (p.Phe771Leu)
c.145T>C (p.Phe49Leu)
c.558T>C
n.2850T>C
c.2677T>C (p.Phe893Leu)
c.1954T>C (p.Phe652Leu)
c.505T>C (p.Phe169Leu)
2g.165344699T>GCA349014650SCN2Ac.2707T>G (p.Phe903Val)
c.*1026T>G (n.*1026T>G)
c.*694T>G (n.*694T>G)
c.*3230T>G (n.*3230T>G)
c.*649T>G (n.*649T>G)
c.2311T>G (p.Phe771Val)
c.145T>G (p.Phe49Val)
c.558T>G
n.2850T>G
c.2677T>G (p.Phe893Val)
c.1954T>G (p.Phe652Val)
c.505T>G (p.Phe169Val)
2g.165344700T>ACA349014655SCN2Ac.2708T>A (p.Phe903Tyr)
c.*1027T>A (n.*1027T>A)
c.*695T>A (n.*695T>A)
c.*3231T>A (n.*3231T>A)
c.*650T>A (n.*650T>A)
c.2312T>A (p.Phe771Tyr)
c.146T>A (p.Phe49Tyr)
c.559T>A
n.2851T>A
c.2678T>A (p.Phe893Tyr)
c.1955T>A (p.Phe652Tyr)
c.506T>A (p.Phe169Tyr)
2g.165344700T>CCA349014663SCN2Ac.2708T>C (p.Phe903Ser)
c.*1027T>C (n.*1027T>C)
c.*695T>C (n.*695T>C)
c.*3231T>C (n.*3231T>C)
c.*650T>C (n.*650T>C)
c.2312T>C (p.Phe771Ser)
c.146T>C (p.Phe49Ser)
c.559T>C
n.2851T>C
c.2678T>C (p.Phe893Ser)
c.1955T>C (p.Phe652Ser)
c.506T>C (p.Phe169Ser)
2g.165344700T>GCA349014657SCN2Ac.2708T>G (p.Phe903Cys)
c.*1027T>G (n.*1027T>G)
c.*695T>G (n.*695T>G)
c.*3231T>G (n.*3231T>G)
c.*650T>G (n.*650T>G)
c.2312T>G (p.Phe771Cys)
c.146T>G (p.Phe49Cys)
c.559T>G
n.2851T>G
c.2678T>G (p.Phe893Cys)
c.1955T>G (p.Phe652Cys)
c.506T>G (p.Phe169Cys)
2g.165344701T>ACA349014667SCN2Ac.2709T>A (p.Phe903Leu)
c.*1028T>A (n.*1028T>A)
c.*696T>A (n.*696T>A)
c.*3232T>A (n.*3232T>A)
c.*651T>A (n.*651T>A)
c.2313T>A (p.Phe771Leu)
c.147T>A (p.Phe49Leu)
c.560T>A
n.2852T>A
c.2679T>A (p.Phe893Leu)
c.1956T>A (p.Phe652Leu)
c.507T>A (p.Phe169Leu)
2g.165344701T>CCA429972202SCN2Ac.2709T>C (p.Phe903=)
c.*1028T>C (n.*1028T>C)
c.*696T>C (n.*696T>C)
c.*3232T>C (n.*3232T>C)
c.*651T>C (n.*651T>C)
c.2313T>C (p.Phe771=)
c.147T>C (p.Phe49=)
c.560T>C
n.2852T>C
c.2679T>C (p.Phe893=)
c.1956T>C (p.Phe652=)
c.507T>C (p.Phe169=)
 gnomAD v4
2g.165344701T>GCA349014671SCN2Ac.2709T>G (p.Phe903Leu)
c.*1028T>G (n.*1028T>G)
c.*696T>G (n.*696T>G)
c.*3232T>G (n.*3232T>G)
c.*651T>G (n.*651T>G)
c.2313T>G (p.Phe771Leu)
c.147T>G (p.Phe49Leu)
c.560T>G
n.2852T>G
c.2679T>G (p.Phe893Leu)
c.1956T>G (p.Phe652Leu)
c.507T>G (p.Phe169Leu)
2g.165344702G>ACA349014677SCN2Ac.2710G>A (p.Gly904Ser)
c.*1029G>A (n.*1029G>A)
c.*697G>A (n.*697G>A)
c.*3233G>A (n.*3233G>A)
c.*652G>A (n.*652G>A)
c.2314G>A (p.Gly772Ser)
c.148G>A (p.Gly50Ser)
c.561G>A
n.2853G>A
c.2680G>A (p.Gly894Ser)
c.1957G>A (p.Gly653Ser)
c.508G>A (p.Gly170Ser)
2g.165344702G>CCA349014682SCN2Ac.2710G>C (p.Gly904Arg)
c.*1029G>C (n.*1029G>C)
c.*697G>C (n.*697G>C)
c.*3233G>C (n.*3233G>C)
c.*652G>C (n.*652G>C)
c.2314G>C (p.Gly772Arg)
c.148G>C (p.Gly50Arg)
c.561G>C
n.2853G>C
c.2680G>C (p.Gly894Arg)
c.1957G>C (p.Gly653Arg)
c.508G>C (p.Gly170Arg)
2g.165344702G>TCA349014684SCN2Ac.2710G>T (p.Gly904Cys)
c.*1029G>T (n.*1029G>T)
c.*697G>T (n.*697G>T)
c.*3233G>T (n.*3233G>T)
c.*652G>T (n.*652G>T)
c.2314G>T (p.Gly772Cys)
c.148G>T (p.Gly50Cys)
c.561G>T
n.2853G>T
c.2680G>T (p.Gly894Cys)
c.1957G>T (p.Gly653Cys)
c.508G>T (p.Gly170Cys)
2g.165344703delCA2580064227SCN2Ac.2711del (p.Gly904ValfsTer30)
c.*1030del (n.*1030del)
c.*698del (n.*698del)
c.*3234del (n.*3234del)
c.*653del (n.*653del)
c.2315del (p.Gly772ValfsTer30)
c.149del (p.Gly50ValfsTer30)
c.562del
n.2854del
c.2681del (p.Gly894ValfsTer30)
c.1958del (p.Gly653ValfsTer30)
c.509del (p.Gly170ValfsTer30)
 ClinVar
2g.165344703G>ACA349014685SCN2Ac.2711G>A (p.Gly904Asp)
c.*1030G>A (n.*1030G>A)
c.*698G>A (n.*698G>A)
c.*3234G>A (n.*3234G>A)
c.*653G>A (n.*653G>A)
c.2315G>A (p.Gly772Asp)
c.149G>A (p.Gly50Asp)
c.562G>A
n.2854G>A
c.2681G>A (p.Gly894Asp)
c.1958G>A (p.Gly653Asp)
c.509G>A (p.Gly170Asp)
2g.165344703G>CCA349014686SCN2Ac.2711G>C (p.Gly904Ala)
c.*1030G>C (n.*1030G>C)
c.*698G>C (n.*698G>C)
c.*3234G>C (n.*3234G>C)
c.*653G>C (n.*653G>C)
c.2315G>C (p.Gly772Ala)
c.149G>C (p.Gly50Ala)
c.562G>C
n.2854G>C
c.2681G>C (p.Gly894Ala)
c.1958G>C (p.Gly653Ala)
c.509G>C (p.Gly170Ala)
2g.165344703G>TCA349014687SCN2Ac.2711G>T (p.Gly904Val)
c.*1030G>T (n.*1030G>T)
c.*698G>T (n.*698G>T)
c.*3234G>T (n.*3234G>T)
c.*653G>T (n.*653G>T)
c.2315G>T (p.Gly772Val)
c.149G>T (p.Gly50Val)
c.562G>T
n.2854G>T
c.2681G>T (p.Gly894Val)
c.1958G>T (p.Gly653Val)
c.509G>T (p.Gly170Val)
2g.165344703_165344704insGAAACA2545684315SCN2Ac.2711_2712insGAAA (p.Ser906Ter)
c.*1030_*1031insGAAA (n.*1030_*1031insGAAA)
c.*698_*699insGAAA (n.*698_*699insGAAA)
c.*3234_*3235insGAAA (n.*3234_*3235insGAAA)
c.*653_*654insGAAA (n.*653_*654insGAAA)
c.2315_2316insGAAA (p.Ser774Ter)
c.149_150insGAAA (p.Ser52Ter)
c.562_563insGAAA
n.2854_2855insGAAA
c.2681_2682insGAAA (p.Ser896Ter)
c.1958_1959insGAAA (p.Ser655Ter)
c.509_510insGAAA (p.Ser172Ter)
2g.165344704T>ACA429972213SCN2Ac.2712T>A (p.Gly904=)
c.*1031T>A (n.*1031T>A)
c.*699T>A (n.*699T>A)
c.*3235T>A (n.*3235T>A)
c.*654T>A (n.*654T>A)
c.2316T>A (p.Gly772=)
c.150T>A (p.Gly50=)
c.563T>A
n.2855T>A
c.2682T>A (p.Gly894=)
c.1959T>A (p.Gly653=)
c.510T>A (p.Gly170=)
2g.165344704T>CCA429972214SCN2Ac.2712T>C (p.Gly904=)
c.*1031T>C (n.*1031T>C)
c.*699T>C (n.*699T>C)
c.*3235T>C (n.*3235T>C)
c.*654T>C (n.*654T>C)
c.2316T>C (p.Gly772=)
c.150T>C (p.Gly50=)
c.563T>C
n.2855T>C
c.2682T>C (p.Gly894=)
c.1959T>C (p.Gly653=)
c.510T>C (p.Gly170=)
2g.165344704T>GCA429972215SCN2Ac.2712T>G (p.Gly904=)
c.*1031T>G (n.*1031T>G)
c.*699T>G (n.*699T>G)
c.*3235T>G (n.*3235T>G)
c.*654T>G (n.*654T>G)
c.2316T>G (p.Gly772=)
c.150T>G (p.Gly50=)
c.563T>G
n.2855T>G
c.2682T>G (p.Gly894=)
c.1959T>G (p.Gly653=)
c.510T>G (p.Gly170=)
2g.165344705A=CA1304545498SCN2Ac.2713A= (p.Lys905=)
c.*1032A= (n.*1032A=)
c.*700A= (n.*700A=)
c.*3236A= (n.*3236A=)
c.*655A= (n.*655A=)
c.2317A= (p.Lys773=)
c.151A= (p.Lys51=)
c.564A=
n.2856A=
c.2683A= (p.Lys895=)
c.1960A= (p.Lys654=)
c.511A= (p.Lys171=)
2g.165344705A>CCA349014688SCN2Ac.2713A>C (p.Lys905Gln)
c.*1032A>C (n.*1032A>C)
c.*700A>C (n.*700A>C)
c.*3236A>C (n.*3236A>C)
c.*655A>C (n.*655A>C)
c.2317A>C (p.Lys773Gln)
c.151A>C (p.Lys51Gln)
c.564A>C
n.2856A>C
c.2683A>C (p.Lys895Gln)
c.1960A>C (p.Lys654Gln)
c.511A>C (p.Lys171Gln)
2g.165344705A>GCA10605291SCN2Ac.2713A>G (p.Lys905Glu)
c.*1032A>G (n.*1032A>G)
c.*700A>G (n.*700A>G)
c.*3236A>G (n.*3236A>G)
c.*655A>G (n.*655A>G)
c.2317A>G (p.Lys773Glu)
c.151A>G (p.Lys51Glu)
c.564A>G
n.2856A>G
c.2683A>G (p.Lys895Glu)
c.1960A>G (p.Lys654Glu)
c.511A>G (p.Lys171Glu)
 ClinVar dbSNP
2g.165344705A>TCA349014692SCN2Ac.2713A>T (p.Lys905Ter)
c.*1032A>T (n.*1032A>T)
c.*700A>T (n.*700A>T)
c.*3236A>T (n.*3236A>T)
c.*655A>T (n.*655A>T)
c.2317A>T (p.Lys773Ter)
c.151A>T (p.Lys51Ter)
c.564A>T
n.2856A>T
c.2683A>T (p.Lys895Ter)
c.1960A>T (p.Lys654Ter)
c.511A>T (p.Lys171Ter)
 dbSNP
2g.165344706A>CCA349014699SCN2Ac.2714A>C (p.Lys905Thr)
c.*1033A>C (n.*1033A>C)
c.*701A>C (n.*701A>C)
c.*3237A>C (n.*3237A>C)
c.*656A>C (n.*656A>C)
c.2318A>C (p.Lys773Thr)
c.152A>C (p.Lys51Thr)
c.565A>C
n.2857A>C
c.2684A>C (p.Lys895Thr)
c.1961A>C (p.Lys654Thr)
c.512A>C (p.Lys171Thr)
2g.165344706A>GCA349014708SCN2Ac.2714A>G (p.Lys905Arg)
c.*1033A>G (n.*1033A>G)
c.*701A>G (n.*701A>G)
c.*3237A>G (n.*3237A>G)
c.*656A>G (n.*656A>G)
c.2318A>G (p.Lys773Arg)
c.152A>G (p.Lys51Arg)
c.565A>G
n.2857A>G
c.2684A>G (p.Lys895Arg)
c.1961A>G (p.Lys654Arg)
c.512A>G (p.Lys171Arg)
 gnomAD v4
2g.165344706A>TCA349014704SCN2Ac.2714A>T (p.Lys905Met)
c.*1033A>T (n.*1033A>T)
c.*701A>T (n.*701A>T)
c.*3237A>T (n.*3237A>T)
c.*656A>T (n.*656A>T)
c.2318A>T (p.Lys773Met)
c.152A>T (p.Lys51Met)
c.565A>T
n.2857A>T
c.2684A>T (p.Lys895Met)
c.1961A>T (p.Lys654Met)
c.512A>T (p.Lys171Met)
2g.165344706_165344709delCA2517731334SCN2Ac.2714_2717del (p.Lys905ThrfsTer28)
c.*1033_*1036del (n.*1033_*1036del)
c.*701_*704del (n.*701_*704del)
c.*3237_*3240del (n.*3237_*3240del)
c.*656_*659del (n.*656_*659del)
c.2318_2321del (p.Lys773ThrfsTer28)
c.152_155del (p.Lys51ThrfsTer28)
c.565_568del
n.2857_2860del
c.2684_2687del (p.Lys895ThrfsTer28)
c.1961_1964del (p.Lys654ThrfsTer28)
c.512_515del (p.Lys171ThrfsTer28)
2g.165344707G>ACA429972219SCN2Ac.2715G>A (p.Lys905=)
c.*1034G>A (n.*1034G>A)
c.*702G>A (n.*702G>A)
c.*3238G>A (n.*3238G>A)
c.*657G>A (n.*657G>A)
c.2319G>A (p.Lys773=)
c.153G>A (p.Lys51=)
c.566G>A
n.2858G>A
c.2685G>A (p.Lys895=)
c.1962G>A (p.Lys654=)
c.513G>A (p.Lys171=)
 gnomAD v4
2g.165344707G>CCA317889SCN2Ac.2715G>C (p.Lys905Asn)
c.*1034G>C (n.*1034G>C)
c.*702G>C (n.*702G>C)
c.*3238G>C (n.*3238G>C)
c.*657G>C (n.*657G>C)
c.2319G>C (p.Lys773Asn)
c.153G>C (p.Lys51Asn)
c.566G>C
n.2858G>C
c.2685G>C (p.Lys895Asn)
c.1962G>C (p.Lys654Asn)
c.513G>C (p.Lys171Asn)
 ClinVar dbSNP
2g.165344707G=CA1304545499SCN2Ac.2715G= (p.Lys905=)
c.*1034G= (n.*1034G=)
c.*702G= (n.*702G=)
c.*3238G= (n.*3238G=)
c.*657G= (n.*657G=)
c.2319G= (p.Lys773=)
c.153G= (p.Lys51=)
c.566G=
n.2858G=
c.2685G= (p.Lys895=)
c.1962G= (p.Lys654=)
c.513G= (p.Lys171=)
2g.165344707G>TCA349014714SCN2Ac.2715G>T (p.Lys905Asn)
c.*1034G>T (n.*1034G>T)
c.*702G>T (n.*702G>T)
c.*3238G>T (n.*3238G>T)
c.*657G>T (n.*657G>T)
c.2319G>T (p.Lys773Asn)
c.153G>T (p.Lys51Asn)
c.566G>T
n.2858G>T
c.2685G>T (p.Lys895Asn)
c.1962G>T (p.Lys654Asn)
c.513G>T (p.Lys171Asn)
 ClinVar
2g.165344708A>CCA349014718SCN2Ac.2716A>C (p.Ser906Arg)
c.*1035A>C (n.*1035A>C)
c.*703A>C (n.*703A>C)
c.*3239A>C (n.*3239A>C)
c.*658A>C (n.*658A>C)
c.2320A>C (p.Ser774Arg)
c.154A>C (p.Ser52Arg)
c.567A>C
n.2859A>C
c.2686A>C (p.Ser896Arg)
c.1963A>C (p.Ser655Arg)
c.514A>C (p.Ser172Arg)
2g.165344708A>GCA349014720SCN2Ac.2716A>G (p.Ser906Gly)
c.*1035A>G (n.*1035A>G)
c.*703A>G (n.*703A>G)
c.*3239A>G (n.*3239A>G)
c.*658A>G (n.*658A>G)
c.2320A>G (p.Ser774Gly)
c.154A>G (p.Ser52Gly)
c.567A>G
n.2859A>G
c.2686A>G (p.Ser896Gly)
c.1963A>G (p.Ser655Gly)
c.514A>G (p.Ser172Gly)
2g.165344708A>TCA349014723SCN2Ac.2716A>T (p.Ser906Cys)
c.*1035A>T (n.*1035A>T)
c.*703A>T (n.*703A>T)
c.*3239A>T (n.*3239A>T)
c.*658A>T (n.*658A>T)
c.2320A>T (p.Ser774Cys)
c.154A>T (p.Ser52Cys)
c.567A>T
n.2859A>T
c.2686A>T (p.Ser896Cys)
c.1963A>T (p.Ser655Cys)
c.514A>T (p.Ser172Cys)
2g.165344709G>ACA349014726SCN2Ac.2717G>A (p.Ser906Asn)
c.*1036G>A (n.*1036G>A)
c.*704G>A (n.*704G>A)
c.*3240G>A (n.*3240G>A)
c.*659G>A (n.*659G>A)
c.2321G>A (p.Ser774Asn)
c.155G>A (p.Ser52Asn)
c.568G>A
n.2860G>A
c.2687G>A (p.Ser896Asn)
c.1964G>A (p.Ser655Asn)
c.515G>A (p.Ser172Asn)
 gnomAD v4
2g.165344709G>CCA349014730SCN2Ac.2717G>C (p.Ser906Thr)
c.*1036G>C (n.*1036G>C)
c.*704G>C (n.*704G>C)
c.*3240G>C (n.*3240G>C)
c.*659G>C (n.*659G>C)
c.2321G>C (p.Ser774Thr)
c.155G>C (p.Ser52Thr)
c.568G>C
n.2860G>C
c.2687G>C (p.Ser896Thr)
c.1964G>C (p.Ser655Thr)
c.515G>C (p.Ser172Thr)
2g.165344709G>TCA349014732SCN2Ac.2717G>T (p.Ser906Ile)
c.*1036G>T (n.*1036G>T)
c.*704G>T (n.*704G>T)
c.*3240G>T (n.*3240G>T)
c.*659G>T (n.*659G>T)
c.2321G>T (p.Ser774Ile)
c.155G>T (p.Ser52Ile)
c.568G>T
n.2860G>T
c.2687G>T (p.Ser896Ile)
c.1964G>T (p.Ser655Ile)
c.515G>T (p.Ser172Ile)
2g.165344710C>ACA349014748SCN2Ac.2718C>A (p.Ser906Arg)
c.*1037C>A (n.*1037C>A)
c.*705C>A (n.*705C>A)
c.*3241C>A (n.*3241C>A)
c.*660C>A (n.*660C>A)
c.2322C>A (p.Ser774Arg)
c.156C>A (p.Ser52Arg)
c.569C>A
n.2861C>A
c.2688C>A (p.Ser896Arg)
c.1965C>A (p.Ser655Arg)
c.516C>A (p.Ser172Arg)
2g.165344710C>GCA349014766SCN2Ac.2718C>G (p.Ser906Arg)
c.*1037C>G (n.*1037C>G)
c.*705C>G (n.*705C>G)
c.*3241C>G (n.*3241C>G)
c.*660C>G (n.*660C>G)
c.2322C>G (p.Ser774Arg)
c.156C>G (p.Ser52Arg)
c.569C>G
n.2861C>G
c.2688C>G (p.Ser896Arg)
c.1965C>G (p.Ser655Arg)
c.516C>G (p.Ser172Arg)
2g.165344710C>TCA429972234SCN2Ac.2718C>T (p.Ser906=)
c.*1037C>T (n.*1037C>T)
c.*705C>T (n.*705C>T)
c.*3241C>T (n.*3241C>T)
c.*660C>T (n.*660C>T)
c.2322C>T (p.Ser774=)
c.156C>T (p.Ser52=)
c.569C>T
n.2861C>T
c.2688C>T (p.Ser896=)
c.1965C>T (p.Ser655=)
c.516C>T (p.Ser172=)
 COSMIC COSMIC
2g.165344711T>ACA349014773SCN2Ac.2719T>A (p.Tyr907Asn)
c.*1038T>A (n.*1038T>A)
c.*706T>A (n.*706T>A)
c.*3242T>A (n.*3242T>A)
c.*661T>A (n.*661T>A)
c.2323T>A (p.Tyr775Asn)
c.157T>A (p.Tyr53Asn)
c.570T>A
n.2862T>A
c.2689T>A (p.Tyr897Asn)
c.1966T>A (p.Tyr656Asn)
c.517T>A (p.Tyr173Asn)
2g.165344711T>CCA349014780SCN2Ac.2719T>C (p.Tyr907His)
c.*1038T>C (n.*1038T>C)
c.*706T>C (n.*706T>C)
c.*3242T>C (n.*3242T>C)
c.*661T>C (n.*661T>C)
c.2323T>C (p.Tyr775His)
c.157T>C (p.Tyr53His)
c.570T>C
n.2862T>C
c.2689T>C (p.Tyr897His)
c.1966T>C (p.Tyr656His)
c.517T>C (p.Tyr173His)
2g.165344711T>GCA349014785SCN2Ac.2719T>G (p.Tyr907Asp)
c.*1038T>G (n.*1038T>G)
c.*706T>G (n.*706T>G)
c.*3242T>G (n.*3242T>G)
c.*661T>G (n.*661T>G)
c.2323T>G (p.Tyr775Asp)
c.157T>G (p.Tyr53Asp)
c.570T>G
n.2862T>G
c.2689T>G (p.Tyr897Asp)
c.1966T>G (p.Tyr656Asp)
c.517T>G (p.Tyr173Asp)
2g.165344712A>CCA349014800SCN2Ac.2720A>C (p.Tyr907Ser)
c.*1039A>C (n.*1039A>C)
c.*707A>C (n.*707A>C)
c.*3243A>C (n.*3243A>C)
c.*662A>C (n.*662A>C)
c.2324A>C (p.Tyr775Ser)
c.158A>C (p.Tyr53Ser)
c.571A>C
n.2863A>C
c.2690A>C (p.Tyr897Ser)
c.1967A>C (p.Tyr656Ser)
c.518A>C (p.Tyr173Ser)
2g.165344712A>GCA349014806SCN2Ac.2720A>G (p.Tyr907Cys)
c.*1039A>G (n.*1039A>G)
c.*707A>G (n.*707A>G)
c.*3243A>G (n.*3243A>G)
c.*662A>G (n.*662A>G)
c.2324A>G (p.Tyr775Cys)
c.158A>G (p.Tyr53Cys)
c.571A>G
n.2863A>G
c.2690A>G (p.Tyr897Cys)
c.1967A>G (p.Tyr656Cys)
c.518A>G (p.Tyr173Cys)
 gnomAD v4
2g.165344712A>TCA349014803SCN2Ac.2720A>T (p.Tyr907Phe)
c.*1039A>T (n.*1039A>T)
c.*707A>T (n.*707A>T)
c.*3243A>T (n.*3243A>T)
c.*662A>T (n.*662A>T)
c.2324A>T (p.Tyr775Phe)
c.158A>T (p.Tyr53Phe)
c.571A>T
n.2863A>T
c.2690A>T (p.Tyr897Phe)
c.1967A>T (p.Tyr656Phe)
c.518A>T (p.Tyr173Phe)
2g.165344713C>ACA349014809SCN2Ac.2721C>A (p.Tyr907Ter)
c.*1040C>A (n.*1040C>A)
c.*708C>A (n.*708C>A)
c.*3244C>A (n.*3244C>A)
c.*663C>A (n.*663C>A)
c.2325C>A (p.Tyr775Ter)
c.159C>A (p.Tyr53Ter)
c.572C>A
n.2864C>A
c.2691C>A (p.Tyr897Ter)
c.1968C>A (p.Tyr656Ter)
c.519C>A (p.Tyr173Ter)
2g.165344713C>GCA349014821SCN2Ac.2721C>G (p.Tyr907Ter)
c.*1040C>G (n.*1040C>G)
c.*708C>G (n.*708C>G)
c.*3244C>G (n.*3244C>G)
c.*663C>G (n.*663C>G)
c.2325C>G (p.Tyr775Ter)
c.159C>G (p.Tyr53Ter)
c.572C>G
n.2864C>G
c.2691C>G (p.Tyr897Ter)
c.1968C>G (p.Tyr656Ter)
c.519C>G (p.Tyr173Ter)
2g.165344713C>TCA429972241SCN2Ac.2721C>T (p.Tyr907=)
c.*1040C>T (n.*1040C>T)
c.*708C>T (n.*708C>T)
c.*3244C>T (n.*3244C>T)
c.*663C>T (n.*663C>T)
c.2325C>T (p.Tyr775=)
c.159C>T (p.Tyr53=)
c.572C>T
n.2864C>T
c.2691C>T (p.Tyr897=)
c.1968C>T (p.Tyr656=)
c.519C>T (p.Tyr173=)
 COSMIC COSMIC
2g.165344714A=CA1304545500SCN2Ac.2722A= (p.Lys908=)
c.*1041A= (n.*1041A=)
c.*709A= (n.*709A=)
c.*3245A= (n.*3245A=)
c.*664A= (n.*664A=)
c.2326A= (p.Lys776=)
c.160A= (p.Lys54=)
c.573A=
n.2865A=
c.2692A= (p.Lys898=)
c.1969A= (p.Lys657=)
c.520A= (p.Lys174=)
2g.165344714A>CCA349014825SCN2Ac.2722A>C (p.Lys908Gln)
c.*1041A>C (n.*1041A>C)
c.*709A>C (n.*709A>C)
c.*3245A>C (n.*3245A>C)
c.*664A>C (n.*664A>C)
c.2326A>C (p.Lys776Gln)
c.160A>C (p.Lys54Gln)
c.573A>C
n.2865A>C
c.2692A>C (p.Lys898Gln)
c.1969A>C (p.Lys657Gln)
c.520A>C (p.Lys174Gln)
2g.165344714A>GCA317898SCN2Ac.2722A>G (p.Lys908Glu)
c.*1041A>G (n.*1041A>G)
c.*709A>G (n.*709A>G)
c.*3245A>G (n.*3245A>G)
c.*664A>G (n.*664A>G)
c.2326A>G (p.Lys776Glu)
c.160A>G (p.Lys54Glu)
c.573A>G
n.2865A>G
c.2692A>G (p.Lys898Glu)
c.1969A>G (p.Lys657Glu)
c.520A>G (p.Lys174Glu)
 ClinVar dbSNP
2g.165344714A>TCA349014826SCN2Ac.2722A>T (p.Lys908Ter)
c.*1041A>T (n.*1041A>T)
c.*709A>T (n.*709A>T)
c.*3245A>T (n.*3245A>T)
c.*664A>T (n.*664A>T)
c.2326A>T (p.Lys776Ter)
c.160A>T (p.Lys54Ter)
c.573A>T
n.2865A>T
c.2692A>T (p.Lys898Ter)
c.1969A>T (p.Lys657Ter)
c.520A>T (p.Lys174Ter)
 dbSNP
2g.165344715A=CA1304545501SCN2Ac.2723A= (p.Lys908=)
c.*1042A= (n.*1042A=)
c.*710A= (n.*710A=)
c.*3246A= (n.*3246A=)
c.*665A= (n.*665A=)
c.2327A= (p.Lys776=)
c.161A= (p.Lys54=)
c.574A=
n.2866A=
c.2693A= (p.Lys898=)
c.1970A= (p.Lys657=)
c.521A= (p.Lys174=)
2g.165344715A>CCA349014829SCN2Ac.2723A>C (p.Lys908Thr)
c.*1042A>C (n.*1042A>C)
c.*710A>C (n.*710A>C)
c.*3246A>C (n.*3246A>C)
c.*665A>C (n.*665A>C)
c.2327A>C (p.Lys776Thr)
c.161A>C (p.Lys54Thr)
c.574A>C
n.2866A>C
c.2693A>C (p.Lys898Thr)
c.1970A>C (p.Lys657Thr)
c.521A>C (p.Lys174Thr)
2g.165344715A>GCA155058SCN2Ac.2723A>G (p.Lys908Arg)
c.*1042A>G (n.*1042A>G)
c.*710A>G (n.*710A>G)
c.*3246A>G (n.*3246A>G)
c.*665A>G (n.*665A>G)
c.2327A>G (p.Lys776Arg)
c.161A>G (p.Lys54Arg)
c.574A>G
n.2866A>G
c.2693A>G (p.Lys898Arg)
c.1970A>G (p.Lys657Arg)
c.521A>G (p.Lys174Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.165344715A>TCA349014836SCN2Ac.2723A>T (p.Lys908Ile)
c.*1042A>T (n.*1042A>T)
c.*710A>T (n.*710A>T)
c.*3246A>T (n.*3246A>T)
c.*665A>T (n.*665A>T)
c.2327A>T (p.Lys776Ile)
c.161A>T (p.Lys54Ile)
c.574A>T
n.2866A>T
c.2693A>T (p.Lys898Ile)
c.1970A>T (p.Lys657Ile)
c.521A>T (p.Lys174Ile)
2g.165344716A>CCA349014841SCN2Ac.2724A>C (p.Lys908Asn)
c.*1043A>C (n.*1043A>C)
c.*711A>C (n.*711A>C)
c.*3247A>C (n.*3247A>C)
c.*666A>C (n.*666A>C)
c.2328A>C (p.Lys776Asn)
c.162A>C (p.Lys54Asn)
c.575A>C
n.2867A>C
c.2694A>C (p.Lys898Asn)
c.1971A>C (p.Lys657Asn)
c.522A>C (p.Lys174Asn)
2g.165344716A>GCA429972250SCN2Ac.2724A>G (p.Lys908=)
c.*1043A>G (n.*1043A>G)
c.*711A>G (n.*711A>G)
c.*3247A>G (n.*3247A>G)
c.*666A>G (n.*666A>G)
c.2328A>G (p.Lys776=)
c.162A>G (p.Lys54=)
c.575A>G
n.2867A>G
c.2694A>G (p.Lys898=)
c.1971A>G (p.Lys657=)
c.522A>G (p.Lys174=)
 gnomAD v4
2g.165344716A>TCA349014842SCN2Ac.2724A>T (p.Lys908Asn)
c.*1043A>T (n.*1043A>T)
c.*711A>T (n.*711A>T)
c.*3247A>T (n.*3247A>T)
c.*666A>T (n.*666A>T)
c.2328A>T (p.Lys776Asn)
c.162A>T (p.Lys54Asn)
c.575A>T
n.2867A>T
c.2694A>T (p.Lys898Asn)
c.1971A>T (p.Lys657Asn)
c.522A>T (p.Lys174Asn)
2g.165344717G>ACA349014846SCN2Ac.2725G>A (p.Glu909Lys)
c.*1044G>A (n.*1044G>A)
c.*712G>A (n.*712G>A)
c.*3248G>A (n.*3248G>A)
c.*667G>A (n.*667G>A)
c.2329G>A (p.Glu777Lys)
c.163G>A (p.Glu55Lys)
c.576G>A
n.2868G>A
c.2695G>A (p.Glu899Lys)
c.1972G>A (p.Glu658Lys)
c.523G>A (p.Glu175Lys)
 ClinVar dbSNP COSMIC COSMIC
2g.165344717G>CCA349014844SCN2Ac.2725G>C (p.Glu909Gln)
c.*1044G>C (n.*1044G>C)
c.*712G>C (n.*712G>C)
c.*3248G>C (n.*3248G>C)
c.*667G>C (n.*667G>C)
c.2329G>C (p.Glu777Gln)
c.163G>C (p.Glu55Gln)
c.576G>C
n.2868G>C
c.2695G>C (p.Glu899Gln)
c.1972G>C (p.Glu658Gln)
c.523G>C (p.Glu175Gln)
2g.165344717G=CA1304545502SCN2Ac.2725G= (p.Glu909=)
c.*1044G= (n.*1044G=)
c.*712G= (n.*712G=)
c.*3248G= (n.*3248G=)
c.*667G= (n.*667G=)
c.2329G= (p.Glu777=)
c.163G= (p.Glu55=)
c.576G=
n.2868G=
c.2695G= (p.Glu899=)
c.1972G= (p.Glu658=)
c.523G= (p.Glu175=)
2g.165344717G>TCA349014843SCN2Ac.2725G>T (p.Glu909Ter)
c.*1044G>T (n.*1044G>T)
c.*712G>T (n.*712G>T)
c.*3248G>T (n.*3248G>T)
c.*667G>T (n.*667G>T)
c.2329G>T (p.Glu777Ter)
c.163G>T (p.Glu55Ter)
c.576G>T
n.2868G>T
c.2695G>T (p.Glu899Ter)
c.1972G>T (p.Glu658Ter)
c.523G>T (p.Glu175Ter)
 dbSNP
2g.165344718A>CCA349014862SCN2Ac.2726A>C (p.Glu909Ala)
c.*1045A>C (n.*1045A>C)
c.*713A>C (n.*713A>C)
c.*3249A>C (n.*3249A>C)
c.*668A>C (n.*668A>C)
c.2330A>C (p.Glu777Ala)
c.164A>C (p.Glu55Ala)
c.577A>C
n.2869A>C
c.2696A>C (p.Glu899Ala)
c.1973A>C (p.Glu658Ala)
c.524A>C (p.Glu175Ala)
2g.165344718A>GCA349014850SCN2Ac.2726A>G (p.Glu909Gly)
c.*1045A>G (n.*1045A>G)
c.*713A>G (n.*713A>G)
c.*3249A>G (n.*3249A>G)
c.*668A>G (n.*668A>G)
c.2330A>G (p.Glu777Gly)
c.164A>G (p.Glu55Gly)
c.577A>G
n.2869A>G
c.2696A>G (p.Glu899Gly)
c.1973A>G (p.Glu658Gly)
c.524A>G (p.Glu175Gly)
2g.165344718A>TCA349014860SCN2Ac.2726A>T (p.Glu909Val)
c.*1045A>T (n.*1045A>T)
c.*713A>T (n.*713A>T)
c.*3249A>T (n.*3249A>T)
c.*668A>T (n.*668A>T)
c.2330A>T (p.Glu777Val)
c.164A>T (p.Glu55Val)
c.577A>T
n.2869A>T
c.2696A>T (p.Glu899Val)
c.1973A>T (p.Glu658Val)
c.524A>T (p.Glu175Val)
2g.165344719A=CA1304545503SCN2Ac.2727A= (p.Glu909=)
c.*1046A= (n.*1046A=)
c.*714A= (n.*714A=)
c.*3250A= (n.*3250A=)
c.*669A= (n.*669A=)
c.2331A= (p.Glu777=)
c.165A= (p.Glu55=)
c.578A=
n.2870A=
c.2697A= (p.Glu899=)
c.1974A= (p.Glu658=)
c.525A= (p.Glu175=)
2g.165344719A>CCA349014865SCN2Ac.2727A>C (p.Glu909Asp)
c.*1046A>C (n.*1046A>C)
c.*714A>C (n.*714A>C)
c.*3250A>C (n.*3250A>C)
c.*669A>C (n.*669A>C)
c.2331A>C (p.Glu777Asp)
c.165A>C (p.Glu55Asp)
c.578A>C
n.2870A>C
c.2697A>C (p.Glu899Asp)
c.1974A>C (p.Glu658Asp)
c.525A>C (p.Glu175Asp)
2g.165344719A>GCA1940015SCN2Ac.2727A>G (p.Glu909=)
c.*1046A>G (n.*1046A>G)
c.*714A>G (n.*714A>G)
c.*3250A>G (n.*3250A>G)
c.*669A>G (n.*669A>G)
c.2331A>G (p.Glu777=)
c.165A>G (p.Glu55=)
c.578A>G
n.2870A>G
c.2697A>G (p.Glu899=)
c.1974A>G (p.Glu658=)
c.525A>G (p.Glu175=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.165344719A>TCA349014870SCN2Ac.2727A>T (p.Glu909Asp)
c.*1046A>T (n.*1046A>T)
c.*714A>T (n.*714A>T)
c.*3250A>T (n.*3250A>T)
c.*669A>T (n.*669A>T)
c.2331A>T (p.Glu777Asp)
c.165A>T (p.Glu55Asp)
c.578A>T
n.2870A>T
c.2697A>T (p.Glu899Asp)
c.1974A>T (p.Glu658Asp)
c.525A>T (p.Glu175Asp)
2g.165344720T>ACA349014882SCN2Ac.2728T>A (p.Cys910Ser)
c.*1047T>A (n.*1047T>A)
c.*715T>A (n.*715T>A)
c.*3251T>A (n.*3251T>A)
c.*670T>A (n.*670T>A)
c.2332T>A (p.Cys778Ser)
c.166T>A (p.Cys56Ser)
c.579T>A
n.2871T>A
c.2698T>A (p.Cys900Ser)
c.1975T>A (p.Cys659Ser)
c.526T>A (p.Cys176Ser)
2g.165344720T>CCA349014897SCN2Ac.2728T>C (p.Cys910Arg)
c.*1047T>C (n.*1047T>C)
c.*715T>C (n.*715T>C)
c.*3251T>C (n.*3251T>C)
c.*670T>C (n.*670T>C)
c.2332T>C (p.Cys778Arg)
c.166T>C (p.Cys56Arg)
c.579T>C
n.2871T>C
c.2698T>C (p.Cys900Arg)
c.1975T>C (p.Cys659Arg)
c.526T>C (p.Cys176Arg)
 gnomAD v4
2g.165344720T>GCA349014924SCN2Ac.2728T>G (p.Cys910Gly)
c.*1047T>G (n.*1047T>G)
c.*715T>G (n.*715T>G)
c.*3251T>G (n.*3251T>G)
c.*670T>G (n.*670T>G)
c.2332T>G (p.Cys778Gly)
c.166T>G (p.Cys56Gly)
c.579T>G
n.2871T>G
c.2698T>G (p.Cys900Gly)
c.1975T>G (p.Cys659Gly)
c.526T>G (p.Cys176Gly)
2g.165344726_165344727insTTGTGTCTCA1304545504SCN2Ac.2734_2735insTTGTGTCT (p.Cys912PhefsTer25)
c.*1053_*1054insTTGTGTCT (n.*1053_*1054insTTGTGTCT)
c.*721_*722insTTGTGTCT (n.*721_*722insTTGTGTCT)
c.*3257_*3258insTTGTGTCT (n.*3257_*3258insTTGTGTCT)
c.*676_*677insTTGTGTCT (n.*676_*677insTTGTGTCT)
c.2338_2339insTTGTGTCT (p.Cys780PhefsTer25)
c.172_173insTTGTGTCT (p.Cys58PhefsTer25)
c.585_586insTTGTGTCT
n.2877_2878insTTGTGTCT
c.2704_2705insTTGTGTCT (p.Cys902PhefsTer25)
c.1981_1982insTTGTGTCT (p.Cys661PhefsTer25)
c.532_533insTTGTGTCT (p.Cys178PhefsTer25)
 dbSNP

Number of alleles fetched