Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.43192320G>ACA371119565HGSNATc.1267G>A (p.Gly423Arg)
n.200G>A
c.418G>A (p.Gly140Arg)
c.371G>A
c.1075G>A (p.Gly359Arg)
c.403G>A (p.Gly135Arg)
 gnomAD v4
8g.43192320G>CCA371119566HGSNATc.1267G>C (p.Gly423Arg)
n.200G>C
c.418G>C (p.Gly140Arg)
c.371G>C
c.1075G>C (p.Gly359Arg)
c.403G>C (p.Gly135Arg)
8g.43192320G=CA1779759941HGSNATc.1267G= (p.Gly423=)
n.200G=
c.418G= (p.Gly140=)
c.371G=
c.1075G= (p.Gly359=)
c.403G= (p.Gly135=)
8g.43192320G>TCA16618645HGSNATc.1267G>T (p.Gly423Trp)
n.200G>T
c.418G>T (p.Gly140Trp)
c.371G>T
c.1075G>T (p.Gly359Trp)
c.403G>T (p.Gly135Trp)
 ClinVar dbSNP gnomAD v4
8g.43192324dupCA1139660497HGSNATc.1271dup (p.Ile425HisfsTer?)
n.204dup
c.422dup (p.Ile142HisfsTer?)
c.375dup
c.1079dup (p.Ile361HisfsTer?)
c.407dup (p.Ile137HisfsTer?)
 ClinVar dbSNP gnomAD v4
8g.43192324delCA2687151700HGSNATc.1271del (p.Gly424AlafsTer?)
n.204del
c.422del (p.Gly141AlafsTer?)
c.375del
c.1079del (p.Gly360AlafsTer?)
c.407del (p.Gly136AlafsTer?)
 gnomAD v4
8g.43192321G>ACA371119568HGSNATc.1268G>A (p.Gly423Glu)
n.201G>A
c.419G>A (p.Gly140Glu)
c.372G>A
c.1076G>A (p.Gly359Glu)
c.404G>A (p.Gly135Glu)
8g.43192321G>CCA371119569HGSNATc.1268G>C (p.Gly423Ala)
n.201G>C
c.419G>C (p.Gly140Ala)
c.372G>C
c.1076G>C (p.Gly359Ala)
c.404G>C (p.Gly135Ala)
8g.43192321G>TCA371119567HGSNATc.1268G>T (p.Gly423Val)
n.201G>T
c.419G>T (p.Gly140Val)
c.372G>T
c.1076G>T (p.Gly359Val)
c.404G>T (p.Gly135Val)
8g.43192322G>ACA460578161HGSNATc.1269G>A (p.Gly423=)
n.202G>A
c.420G>A (p.Gly140=)
c.373G>A
c.1077G>A (p.Gly359=)
c.405G>A (p.Gly135=)
 ClinVar dbSNP gnomAD v4
8g.43192322G>CCA460578164HGSNATc.1269G>C (p.Gly423=)
n.202G>C
c.420G>C (p.Gly140=)
c.373G>C
c.1077G>C (p.Gly359=)
c.405G>C (p.Gly135=)
8g.43192322G>TCA460578166HGSNATc.1269G>T (p.Gly423=)
n.202G>T
c.420G>T (p.Gly140=)
c.373G>T
c.1077G>T (p.Gly359=)
c.405G>T (p.Gly135=)
8g.43192323G>ACA4736833HGSNATc.1270G>A (p.Gly424Ser)
n.203G>A
c.421G>A (p.Gly141Ser)
c.374G>A
c.1078G>A (p.Gly360Ser)
c.406G>A (p.Gly136Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43192323G>CCA371119570HGSNATc.1270G>C (p.Gly424Arg)
n.203G>C
c.421G>C (p.Gly141Arg)
c.374G>C
c.1078G>C (p.Gly360Arg)
c.406G>C (p.Gly136Arg)
8g.43192323G=CA1779759942HGSNATc.1270G= (p.Gly424=)
n.203G=
c.421G= (p.Gly141=)
c.374G=
c.1078G= (p.Gly360=)
c.406G= (p.Gly136=)
8g.43192323G>TCA371119571HGSNATc.1270G>T (p.Gly424Cys)
n.203G>T
c.421G>T (p.Gly141Cys)
c.374G>T
c.1078G>T (p.Gly360Cys)
c.406G>T (p.Gly136Cys)
8g.43192324G>ACA371119572HGSNATc.1271G>A (p.Gly424Asp)
n.204G>A
c.422G>A (p.Gly141Asp)
c.375G>A
c.1079G>A (p.Gly360Asp)
c.407G>A (p.Gly136Asp)
 ClinVar dbSNP gnomAD v4
8g.43192324G>CCA371119573HGSNATc.1271G>C (p.Gly424Ala)
n.204G>C
c.422G>C (p.Gly141Ala)
c.375G>C
c.1079G>C (p.Gly360Ala)
c.407G>C (p.Gly136Ala)
8g.43192324G>TCA371119574HGSNATc.1271G>T (p.Gly424Val)
n.204G>T
c.422G>T (p.Gly141Val)
c.375G>T
c.1079G>T (p.Gly360Val)
c.407G>T (p.Gly136Val)
8g.43192325C>ACA460578180HGSNATc.1272C>A (p.Gly424=)
n.205C>A
c.423C>A (p.Gly141=)
c.376C>A
c.1080C>A (p.Gly360=)
c.408C>A (p.Gly136=)
8g.43192325C=CA1779759943HGSNATc.1272C= (p.Gly424=)
n.205C=
c.423C= (p.Gly141=)
c.376C=
c.1080C= (p.Gly360=)
c.408C= (p.Gly136=)
8g.43192325C>GCA460578183HGSNATc.1272C>G (p.Gly424=)
n.205C>G
c.423C>G (p.Gly141=)
c.376C>G
c.1080C>G (p.Gly360=)
c.408C>G (p.Gly136=)
8g.43192325C>TCA4736834HGSNATc.1272C>T (p.Gly424=)
n.205C>T
c.423C>T (p.Gly141=)
c.376C>T
c.1080C>T (p.Gly360=)
c.408C>T (p.Gly136=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43192326A>CCA371119575HGSNATc.1273A>C (p.Ile425Leu)
n.206A>C
c.424A>C (p.Ile142Leu)
c.377A>C
c.1081A>C (p.Ile361Leu)
c.409A>C (p.Ile137Leu)
 gnomAD v4
8g.43192326A>GCA371119577HGSNATc.1273A>G (p.Ile425Val)
n.206A>G
c.424A>G (p.Ile142Val)
c.377A>G
c.1081A>G (p.Ile361Val)
c.409A>G (p.Ile137Val)
 gnomAD v4
8g.43192326A>TCA371119576HGSNATc.1273A>T (p.Ile425Phe)
n.206A>T
c.424A>T (p.Ile142Phe)
c.377A>T
c.1081A>T (p.Ile361Phe)
c.409A>T (p.Ile137Phe)
8g.43192327T>ACA371119578HGSNATc.1274T>A (p.Ile425Asn)
n.207T>A
c.425T>A (p.Ile142Asn)
c.378T>A
c.1082T>A (p.Ile361Asn)
c.410T>A (p.Ile137Asn)
8g.43192327T>CCA371119579HGSNATc.1274T>C (p.Ile425Thr)
n.207T>C
c.425T>C (p.Ile142Thr)
c.378T>C
c.1082T>C (p.Ile361Thr)
c.410T>C (p.Ile137Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.43192327T>GCA371119580HGSNATc.1274T>G (p.Ile425Ser)
n.207T>G
c.425T>G (p.Ile142Ser)
c.378T>G
c.1082T>G (p.Ile361Ser)
c.410T>G (p.Ile137Ser)
 gnomAD v4
8g.43192327T=CA1779759944HGSNATc.1274T= (p.Ile425=)
n.207T=
c.425T= (p.Ile142=)
c.378T=
c.1082T= (p.Ile361=)
c.410T= (p.Ile137=)
8g.43192328T>ACA460578200HGSNATc.1275T>A (p.Ile425=)
n.208T>A
c.426T>A (p.Ile142=)
c.379T>A
c.1083T>A (p.Ile361=)
c.411T>A (p.Ile137=)
8g.43192328T>CCA460578203HGSNATc.1275T>C (p.Ile425=)
n.208T>C
c.426T>C (p.Ile142=)
c.379T>C
c.1083T>C (p.Ile361=)
c.411T>C (p.Ile137=)
 ClinVar dbSNP
8g.43192328T>GCA371119581HGSNATc.1275T>G (p.Ile425Met)
n.208T>G
c.426T>G (p.Ile142Met)
c.379T>G
c.1083T>G (p.Ile361Met)
c.411T>G (p.Ile137Met)
8g.43192328T=CA1779759945HGSNATc.1275T= (p.Ile425=)
n.208T=
c.426T= (p.Ile142=)
c.379T=
c.1083T= (p.Ile361=)
c.411T= (p.Ile137=)
8g.43192329G>ACA371119582HGSNATc.1276G>A (p.Gly426Arg)
n.209G>A
c.427G>A (p.Gly143Arg)
c.380G>A
c.1084G>A (p.Gly362Arg)
c.412G>A (p.Gly138Arg)
 dbSNP gnomAD v2
8g.43192329G>CCA371119584HGSNATc.1276G>C (p.Gly426Arg)
n.209G>C
c.427G>C (p.Gly143Arg)
c.380G>C
c.1084G>C (p.Gly362Arg)
c.412G>C (p.Gly138Arg)
8g.43192329G=CA1779759946HGSNATc.1276G= (p.Gly426=)
n.209G=
c.427G= (p.Gly143=)
c.380G=
c.1084G= (p.Gly362=)
c.412G= (p.Gly138=)
8g.43192329G>TCA371119583HGSNATc.1276G>T (p.Gly426Ter)
n.209G>T
c.427G>T (p.Gly143Ter)
c.380G>T
c.1084G>T (p.Gly362Ter)
c.412G>T (p.Gly138Ter)
8g.43192330G>ACA371119585HGSNATc.1277G>A (p.Gly426Glu)
n.210G>A
c.428G>A (p.Gly143Glu)
c.381G>A
c.1085G>A (p.Gly362Glu)
c.413G>A (p.Gly138Glu)
8g.43192330G>CCA371119586HGSNATc.1277G>C (p.Gly426Ala)
n.210G>C
c.428G>C (p.Gly143Ala)
c.381G>C
c.1085G>C (p.Gly362Ala)
c.413G>C (p.Gly138Ala)
8g.43192330G>TCA371119587HGSNATc.1277G>T (p.Gly426Val)
n.210G>T
c.428G>T (p.Gly143Val)
c.381G>T
c.1085G>T (p.Gly362Val)
c.413G>T (p.Gly138Val)
8g.43192331A>CCA460578217HGSNATc.1278A>C (p.Gly426=)
n.211A>C
c.429A>C (p.Gly143=)
c.382A>C
c.1086A>C (p.Gly362=)
c.414A>C (p.Gly138=)
8g.43192331A>GCA460578220HGSNATc.1278A>G (p.Gly426=)
n.211A>G
c.429A>G (p.Gly143=)
c.382A>G
c.1086A>G (p.Gly362=)
c.414A>G (p.Gly138=)
8g.43192331A>TCA460578223HGSNATc.1278A>T (p.Gly426=)
n.211A>T
c.429A>T (p.Gly143=)
c.382A>T
c.1086A>T (p.Gly362=)
c.414A>T (p.Gly138=)
8g.43192332G>ACA371119588HGSNATc.1279G>A (p.Asp427Asn)
n.212G>A
c.430G>A (p.Asp144Asn)
c.383G>A
c.1087G>A (p.Asp363Asn)
c.415G>A (p.Asp139Asn)
8g.43192332G>CCA371119589HGSNATc.1279G>C (p.Asp427His)
n.212G>C
c.430G>C (p.Asp144His)
c.383G>C
c.1087G>C (p.Asp363His)
c.415G>C (p.Asp139His)
8g.43192332G>TCA371119590HGSNATc.1279G>T (p.Asp427Tyr)
n.212G>T
c.430G>T (p.Asp144Tyr)
c.383G>T
c.1087G>T (p.Asp363Tyr)
c.415G>T (p.Asp139Tyr)
8g.43192333A>CCA371119591HGSNATc.1280A>C (p.Asp427Ala)
n.213A>C
c.431A>C (p.Asp144Ala)
c.384A>C
c.1088A>C (p.Asp363Ala)
c.416A>C (p.Asp139Ala)
8g.43192333A>GCA371119592HGSNATc.1280A>G (p.Asp427Gly)
n.213A>G
c.431A>G (p.Asp144Gly)
c.384A>G
c.1088A>G (p.Asp363Gly)
c.416A>G (p.Asp139Gly)
8g.43192333A>TCA371119593HGSNATc.1280A>T (p.Asp427Val)
n.213A>T
c.431A>T (p.Asp144Val)
c.384A>T
c.1088A>T (p.Asp363Val)
c.416A>T (p.Asp139Val)
8g.43192334T>ACA371119594HGSNATc.1281T>A (p.Asp427Glu)
n.214T>A
c.432T>A (p.Asp144Glu)
c.385T>A
c.1089T>A (p.Asp363Glu)
c.417T>A (p.Asp139Glu)
8g.43192334T>CCA460578240HGSNATc.1281T>C (p.Asp427=)
n.214T>C
c.432T>C (p.Asp144=)
c.385T>C
c.1089T>C (p.Asp363=)
c.417T>C (p.Asp139=)
 ClinVar
8g.43192334T>GCA371119595HGSNATc.1281T>G (p.Asp427Glu)
n.214T>G
c.432T>G (p.Asp144Glu)
c.385T>G
c.1089T>G (p.Asp363Glu)
c.417T>G (p.Asp139Glu)
8g.43192335T>ACA371119596HGSNATc.1282T>A (p.Phe428Ile)
n.215T>A
c.433T>A (p.Phe145Ile)
c.386T>A
c.1090T>A (p.Phe364Ile)
c.418T>A (p.Phe140Ile)
 gnomAD v4
8g.43192335T>CCA371119597HGSNATc.1282T>C (p.Phe428Leu)
n.215T>C
c.433T>C (p.Phe145Leu)
c.386T>C
c.1090T>C (p.Phe364Leu)
c.418T>C (p.Phe140Leu)
8g.43192335T>GCA371119598HGSNATc.1282T>G (p.Phe428Val)
n.215T>G
c.433T>G (p.Phe145Val)
c.386T>G
c.1090T>G (p.Phe364Val)
c.418T>G (p.Phe140Val)
8g.43192336T>ACA371119600HGSNATc.1283T>A (p.Phe428Tyr)
n.216T>A
c.434T>A (p.Phe145Tyr)
c.387T>A
c.1091T>A (p.Phe364Tyr)
c.419T>A (p.Phe140Tyr)
8g.43192336T>CCA371119599HGSNATc.1283T>C (p.Phe428Ser)
n.216T>C
c.434T>C (p.Phe145Ser)
c.387T>C
c.1091T>C (p.Phe364Ser)
c.419T>C (p.Phe140Ser)
8g.43192336T>GCA4736835HGSNATc.1283T>G (p.Phe428Cys)
n.216T>G
c.434T>G (p.Phe145Cys)
c.387T>G
c.1091T>G (p.Phe364Cys)
c.419T>G (p.Phe140Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43192336T=CA1779759947HGSNATc.1283T= (p.Phe428=)
n.216T=
c.434T= (p.Phe145=)
c.387T=
c.1091T= (p.Phe364=)
c.419T= (p.Phe140=)
8g.43192337T>ACA371119601HGSNATc.1284T>A (p.Phe428Leu)
n.217T>A
c.435T>A (p.Phe145Leu)
c.388T>A
c.1092T>A (p.Phe364Leu)
c.420T>A (p.Phe140Leu)
8g.43192337T>CCA460578250HGSNATc.1284T>C (p.Phe428=)
n.217T>C
c.435T>C (p.Phe145=)
c.388T>C
c.1092T>C (p.Phe364=)
c.420T>C (p.Phe140=)
8g.43192337T>GCA371119602HGSNATc.1284T>G (p.Phe428Leu)
n.217T>G
c.435T>G (p.Phe145Leu)
c.388T>G
c.1092T>G (p.Phe364Leu)
c.420T>G (p.Phe140Leu)
8g.43192338G>ACA371119603HGSNATc.1285G>A (p.Gly429Ser)
n.218G>A
c.436G>A (p.Gly146Ser)
c.389G>A
c.1093G>A (p.Gly365Ser)
c.421G>A (p.Gly141Ser)
8g.43192338G>CCA371119604HGSNATc.1285G>C (p.Gly429Arg)
n.218G>C
c.436G>C (p.Gly146Arg)
c.389G>C
c.1093G>C (p.Gly365Arg)
c.421G>C (p.Gly141Arg)
8g.43192338G>TCA371119605HGSNATc.1285G>T (p.Gly429Cys)
n.218G>T
c.436G>T (p.Gly146Cys)
c.389G>T
c.1093G>T (p.Gly365Cys)
c.421G>T (p.Gly141Cys)
 gnomAD v4
8g.43192339G>ACA371119606HGSNATc.1286G>A (p.Gly429Asp)
n.219G>A
c.437G>A (p.Gly146Asp)
c.390G>A
c.1094G>A (p.Gly365Asp)
c.422G>A (p.Gly141Asp)
8g.43192339G>CCA371119607HGSNATc.1286G>C (p.Gly429Ala)
n.219G>C
c.437G>C (p.Gly146Ala)
c.390G>C
c.1094G>C (p.Gly365Ala)
c.422G>C (p.Gly141Ala)
8g.43192339G>TCA371119608HGSNATc.1286G>T (p.Gly429Val)
n.219G>T
c.437G>T (p.Gly146Val)
c.390G>T
c.1094G>T (p.Gly365Val)
c.422G>T (p.Gly141Val)
 ClinVar
8g.43192340C>ACA460578260HGSNATc.1287C>A (p.Gly429=)
n.220C>A
c.438C>A (p.Gly146=)
c.391C>A
c.1095C>A (p.Gly365=)
c.423C>A (p.Gly141=)
8g.43192340C>GCA460578262HGSNATc.1287C>G (p.Gly429=)
n.220C>G
c.438C>G (p.Gly146=)
c.391C>G
c.1095C>G (p.Gly365=)
c.423C>G (p.Gly141=)
8g.43192340C>TCA460578264HGSNATc.1287C>T (p.Gly429=)
n.220C>T
c.438C>T (p.Gly146=)
c.391C>T
c.1095C>T (p.Gly365=)
c.423C>T (p.Gly141=)
8g.43192341A=CA1779759948HGSNATc.1288A= (p.Lys430=)
n.221A=
c.439A= (p.Lys147=)
c.392A=
c.1096A= (p.Lys366=)
c.424A= (p.Lys142=)
8g.43192341A>CCA371119609HGSNATc.1288A>C (p.Lys430Gln)
n.221A>C
c.439A>C (p.Lys147Gln)
c.392A>C
c.1096A>C (p.Lys366Gln)
c.424A>C (p.Lys142Gln)
8g.43192341A>GCA371119610HGSNATc.1288A>G (p.Lys430Glu)
n.221A>G
c.439A>G (p.Lys147Glu)
c.392A>G
c.1096A>G (p.Lys366Glu)
c.424A>G (p.Lys142Glu)
 dbSNP gnomAD v4
8g.43192341A>TCA371119611HGSNATc.1288A>T (p.Lys430Ter)
n.221A>T
c.439A>T (p.Lys147Ter)
c.392A>T
c.1096A>T (p.Lys366Ter)
c.424A>T (p.Lys142Ter)
8g.43192342A=CA1779759949HGSNATc.1289A= (p.Lys430=)
n.222A=
c.440A= (p.Lys147=)
c.393A=
c.1097A= (p.Lys366=)
c.425A= (p.Lys142=)
8g.43192342A>CCA371119612HGSNATc.1289A>C (p.Lys430Thr)
n.222A>C
c.440A>C (p.Lys147Thr)
c.393A>C
c.1097A>C (p.Lys366Thr)
c.425A>C (p.Lys142Thr)
8g.43192342A>GCA371119613HGSNATc.1289A>G (p.Lys430Arg)
n.222A>G
c.440A>G (p.Lys147Arg)
c.393A>G
c.1097A>G (p.Lys366Arg)
c.425A>G (p.Lys142Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.43192342A>TCA371119614HGSNATc.1289A>T (p.Lys430Met)
n.222A>T
c.440A>T (p.Lys147Met)
c.393A>T
c.1097A>T (p.Lys366Met)
c.425A>T (p.Lys142Met)
8g.43192343G>ACA4736836HGSNATc.1290G>A (p.Lys430=)
n.223G>A
c.441G>A (p.Lys147=)
c.394G>A
c.1098G>A (p.Lys366=)
c.426G>A (p.Lys142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43192343G>CCA371119616HGSNATc.1290G>C (p.Lys430Asn)
n.223G>C
c.441G>C (p.Lys147Asn)
c.394G>C
c.1098G>C (p.Lys366Asn)
c.426G>C (p.Lys142Asn)
8g.43192343G=CA1779759950HGSNATc.1290G= (p.Lys430=)
n.223G=
c.441G= (p.Lys147=)
c.394G=
c.1098G= (p.Lys366=)
c.426G= (p.Lys142=)
8g.43192343G>TCA371119615HGSNATc.1290G>T (p.Lys430Asn)
n.223G>T
c.441G>T (p.Lys147Asn)
c.394G>T
c.1098G>T (p.Lys366Asn)
c.426G>T (p.Lys142Asn)
8g.43192344T>ACA371119617HGSNATc.1291T>A (p.Tyr431Asn)
n.224T>A
c.442T>A (p.Tyr148Asn)
c.395T>A
c.1099T>A (p.Tyr367Asn)
c.427T>A (p.Tyr143Asn)
8g.43192344T>CCA371119618HGSNATc.1291T>C (p.Tyr431His)
n.224T>C
c.442T>C (p.Tyr148His)
c.395T>C
c.1099T>C (p.Tyr367His)
c.427T>C (p.Tyr143His)
 ClinVar
8g.43192344T>GCA371119619HGSNATc.1291T>G (p.Tyr431Asp)
n.224T>G
c.442T>G (p.Tyr148Asp)
c.395T>G
c.1099T>G (p.Tyr367Asp)
c.427T>G (p.Tyr143Asp)
8g.43192345A>CCA371119620HGSNATc.1292A>C (p.Tyr431Ser)
n.225A>C
c.443A>C (p.Tyr148Ser)
c.396A>C
c.1100A>C (p.Tyr367Ser)
c.428A>C (p.Tyr143Ser)
8g.43192345A>GCA371119621HGSNATc.1292A>G (p.Tyr431Cys)
n.225A>G
c.443A>G (p.Tyr148Cys)
c.396A>G
c.1100A>G (p.Tyr367Cys)
c.428A>G (p.Tyr143Cys)
8g.43192345A>TCA371119622HGSNATc.1292A>T (p.Tyr431Phe)
n.225A>T
c.443A>T (p.Tyr148Phe)
c.396A>T
c.1100A>T (p.Tyr367Phe)
c.428A>T (p.Tyr143Phe)
8g.43192346T>ACA371119624HGSNATc.1293T>A (p.Tyr431Ter)
n.226T>A
c.444T>A (p.Tyr148Ter)
c.397T>A
c.1101T>A (p.Tyr367Ter)
c.429T>A (p.Tyr143Ter)
 COSMIC COSMIC
8g.43192346T>CCA460578282HGSNATc.1293T>C (p.Tyr431=)
n.226T>C
c.444T>C (p.Tyr148=)
c.397T>C
c.1101T>C (p.Tyr367=)
c.429T>C (p.Tyr143=)
 dbSNP gnomAD v4
8g.43192346T>GCA371119623HGSNATc.1293T>G (p.Tyr431Ter)
n.226T>G
c.444T>G (p.Tyr148Ter)
c.397T>G
c.1101T>G (p.Tyr367Ter)
c.429T>G (p.Tyr143Ter)
8g.43192346T=CA1779759951HGSNATc.1293T= (p.Tyr431=)
n.226T=
c.444T= (p.Tyr148=)
c.397T=
c.1101T= (p.Tyr367=)
c.429T= (p.Tyr143=)
8g.43192347C>ACA371119625HGSNATc.1294C>A (p.Pro432Thr)
n.227C>A
c.445C>A (p.Pro149Thr)
c.398C>A
c.1102C>A (p.Pro368Thr)
c.430C>A (p.Pro144Thr)
 dbSNP
8g.43192347C=CA1779759952HGSNATc.1294C= (p.Pro432=)
n.227C=
c.445C= (p.Pro149=)
c.398C=
c.1102C= (p.Pro368=)
c.430C= (p.Pro144=)
8g.43192347C>GCA371119626HGSNATc.1294C>G (p.Pro432Ala)
n.227C>G
c.445C>G (p.Pro149Ala)
c.398C>G
c.1102C>G (p.Pro368Ala)
c.430C>G (p.Pro144Ala)
8g.43192347C>TCA371119627HGSNATc.1294C>T (p.Pro432Ser)
n.227C>T
c.445C>T (p.Pro149Ser)
c.398C>T
c.1102C>T (p.Pro368Ser)
c.430C>T (p.Pro144Ser)
8g.43192348C>ACA371119628HGSNATc.1295C>A (p.Pro432Gln)
n.228C>A
c.446C>A (p.Pro149Gln)
c.399C>A
c.1103C>A (p.Pro368Gln)
c.431C>A (p.Pro144Gln)
 gnomAD v4
8g.43192348C>GCA371119629HGSNATc.1295C>G (p.Pro432Arg)
n.228C>G
c.446C>G (p.Pro149Arg)
c.399C>G
c.1103C>G (p.Pro368Arg)
c.431C>G (p.Pro144Arg)
8g.43192348C>TCA371119630HGSNATc.1295C>T (p.Pro432Leu)
n.228C>T
c.446C>T (p.Pro149Leu)
c.399C>T
c.1103C>T (p.Pro368Leu)
c.431C>T (p.Pro144Leu)
8g.43192349A=CA1779759953HGSNATc.1296A= (p.Pro432=)
n.229A=
c.447A= (p.Pro149=)
c.400A=
c.1104A= (p.Pro368=)
c.432A= (p.Pro144=)
8g.43192349A>CCA460578288HGSNATc.1296A>C (p.Pro432=)
n.229A>C
c.447A>C (p.Pro149=)
c.400A>C
c.1104A>C (p.Pro368=)
c.432A>C (p.Pro144=)
8g.43192349A>GCA176073947HGSNATc.1296A>G (p.Pro432=)
n.229A>G
c.447A>G (p.Pro149=)
c.400A>G
c.1104A>G (p.Pro368=)
c.432A>G (p.Pro144=)
 dbSNP gnomAD v4
8g.43192349A>TCA460578291HGSNATc.1296A>T (p.Pro432=)
n.229A>T
c.447A>T (p.Pro149=)
c.400A>T
c.1104A>T (p.Pro368=)
c.432A>T (p.Pro144=)
8g.43192350A=CA1779759954HGSNATc.1297A= (p.Asn433=)
n.230A=
c.448A= (p.Asn150=)
c.401A=
c.1105A= (p.Asn369=)
c.433A= (p.Asn145=)
8g.43192350A>CCA371119631HGSNATc.1297A>C (p.Asn433His)
n.230A>C
c.448A>C (p.Asn150His)
c.401A>C
c.1105A>C (p.Asn369His)
c.433A>C (p.Asn145His)
8g.43192350A>GCA4736837HGSNATc.1297A>G (p.Asn433Asp)
n.230A>G
c.448A>G (p.Asn150Asp)
c.401A>G
c.1105A>G (p.Asn369Asp)
c.433A>G (p.Asn145Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43192350A>TCA371119632HGSNATc.1297A>T (p.Asn433Tyr)
n.230A>T
c.448A>T (p.Asn150Tyr)
c.401A>T
c.1105A>T (p.Asn369Tyr)
c.433A>T (p.Asn145Tyr)
8g.43192351A>CCA371119633HGSNATc.1298A>C (p.Asn433Thr)
n.231A>C
c.449A>C (p.Asn150Thr)
c.402A>C
c.1106A>C (p.Asn369Thr)
c.434A>C (p.Asn145Thr)
 COSMIC COSMIC
8g.43192351A>GCA371119634HGSNATc.1298A>G (p.Asn433Ser)
n.231A>G
c.449A>G (p.Asn150Ser)
c.402A>G
c.1106A>G (p.Asn369Ser)
c.434A>G (p.Asn145Ser)
8g.43192351A>TCA371119635HGSNATc.1298A>T (p.Asn433Ile)
n.231A>T
c.449A>T (p.Asn150Ile)
c.402A>T
c.1106A>T (p.Asn369Ile)
c.434A>T (p.Asn145Ile)
8g.43192352T>ACA371119636HGSNATc.1299T>A (p.Asn433Lys)
n.232T>A
c.450T>A (p.Asn150Lys)
c.403T>A
c.1107T>A (p.Asn369Lys)
c.435T>A (p.Asn145Lys)
8g.43192352T>CCA460578302HGSNATc.1299T>C (p.Asn433=)
n.232T>C
c.450T>C (p.Asn150=)
c.403T>C
c.1107T>C (p.Asn369=)
c.435T>C (p.Asn145=)
 ClinVar dbSNP gnomAD v4
8g.43192352T>GCA371119637HGSNATc.1299T>G (p.Asn433Lys)
n.232T>G
c.450T>G (p.Asn150Lys)
c.403T>G
c.1107T>G (p.Asn369Lys)
c.435T>G (p.Asn145Lys)
8g.43192353T>ACA371119638HGSNATc.1300T>A (p.Cys434Ser)
n.233T>A
c.451T>A (p.Cys151Ser)
c.404T>A
c.1108T>A (p.Cys370Ser)
c.436T>A (p.Cys146Ser)
8g.43192353T>CCA371119639HGSNATc.1300T>C (p.Cys434Arg)
n.233T>C
c.451T>C (p.Cys151Arg)
c.404T>C
c.1108T>C (p.Cys370Arg)
c.436T>C (p.Cys146Arg)
8g.43192353T>GCA371119640HGSNATc.1300T>G (p.Cys434Gly)
n.233T>G
c.451T>G (p.Cys151Gly)
c.404T>G
c.1108T>G (p.Cys370Gly)
c.436T>G (p.Cys146Gly)
8g.43192354G>ACA4736838HGSNATc.1301G>A (p.Cys434Tyr)
n.234G>A
c.452G>A (p.Cys151Tyr)
c.405G>A
c.1109G>A (p.Cys370Tyr)
c.437G>A (p.Cys146Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.43192354G>CCA371119641HGSNATc.1301G>C (p.Cys434Ser)
n.234G>C
c.452G>C (p.Cys151Ser)
c.405G>C
c.1109G>C (p.Cys370Ser)
c.437G>C (p.Cys146Ser)
8g.43192354G=CA1779759955HGSNATc.1301G= (p.Cys434=)
n.234G=
c.452G= (p.Cys151=)
c.405G=
c.1109G= (p.Cys370=)
c.437G= (p.Cys146=)
8g.43192354G>TCA371119642HGSNATc.1301G>T (p.Cys434Phe)
n.234G>T
c.452G>T (p.Cys151Phe)
c.405G>T
c.1109G>T (p.Cys370Phe)
c.437G>T (p.Cys146Phe)
8g.43192355C>ACA371119644HGSNATc.1302C>A (p.Cys434Ter)
n.235C>A
c.453C>A (p.Cys151Ter)
c.406C>A
c.1110C>A (p.Cys370Ter)
c.438C>A (p.Cys146Ter)
8g.43192355C=CA1779759956HGSNATc.1302C= (p.Cys434=)
n.235C=
c.453C= (p.Cys151=)
c.406C=
c.1110C= (p.Cys370=)
c.438C= (p.Cys146=)
8g.43192355C>GCA371119643HGSNATc.1302C>G (p.Cys434Trp)
n.235C>G
c.453C>G (p.Cys151Trp)
c.406C>G
c.1110C>G (p.Cys370Trp)
c.438C>G (p.Cys146Trp)
8g.43192355C>TCA4736839HGSNATc.1302C>T (p.Cys434=)
n.235C>T
c.453C>T (p.Cys151=)
c.406C>T
c.1110C>T (p.Cys370=)
c.438C>T (p.Cys146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43192356A>CCA371119645HGSNATc.1303A>C (p.Thr435Pro)
n.236A>C
c.454A>C (p.Thr152Pro)
c.407A>C
c.1111A>C (p.Thr371Pro)
c.439A>C (p.Thr147Pro)
8g.43192356A>GCA371119646HGSNATc.1303A>G (p.Thr435Ala)
n.236A>G
c.454A>G (p.Thr152Ala)
c.407A>G
c.1111A>G (p.Thr371Ala)
c.439A>G (p.Thr147Ala)
 gnomAD v4
8g.43192356A>TCA371119647HGSNATc.1303A>T (p.Thr435Ser)
n.236A>T
c.454A>T (p.Thr152Ser)
c.407A>T
c.1111A>T (p.Thr371Ser)
c.439A>T (p.Thr147Ser)
8g.43192357C>ACA371119648HGSNATc.1304C>A (p.Thr435Asn)
n.237C>A
c.455C>A (p.Thr152Asn)
c.408C>A
c.1112C>A (p.Thr371Asn)
c.440C>A (p.Thr147Asn)
8g.43192357C>GCA371119649HGSNATc.1304C>G (p.Thr435Ser)
n.237C>G
c.455C>G (p.Thr152Ser)
c.408C>G
c.1112C>G (p.Thr371Ser)
c.440C>G (p.Thr147Ser)
 gnomAD v4
8g.43192357C>TCA371119650HGSNATc.1304C>T (p.Thr435Ile)
n.237C>T
c.455C>T (p.Thr152Ile)
c.408C>T
c.1112C>T (p.Thr371Ile)
c.440C>T (p.Thr147Ile)
8g.43192358T>ACA460578320HGSNATc.1305T>A (p.Thr435=)
n.238T>A
c.456T>A (p.Thr152=)
c.409T>A
c.1113T>A (p.Thr371=)
c.441T>A (p.Thr147=)
8g.43192358T>CCA460578322HGSNATc.1305T>C (p.Thr435=)
n.238T>C
c.456T>C (p.Thr152=)
c.409T>C
c.1113T>C (p.Thr371=)
c.441T>C (p.Thr147=)
8g.43192358T>GCA460578324HGSNATc.1305T>G (p.Thr435=)
n.238T>G
c.456T>G (p.Thr152=)
c.409T>G
c.1113T>G (p.Thr371=)
c.441T>G (p.Thr147=)
8g.43192359G>ACA371119653HGSNATc.1306G>A (p.Gly436Arg)
n.239G>A
c.457G>A (p.Gly153Arg)
c.410G>A
c.1114G>A (p.Gly372Arg)
c.442G>A (p.Gly148Arg)
8g.43192359G>CCA371119652HGSNATc.1306G>C (p.Gly436Arg)
n.239G>C
c.457G>C (p.Gly153Arg)
c.410G>C
c.1114G>C (p.Gly372Arg)
c.442G>C (p.Gly148Arg)
8g.43192359G=CA1779759957HGSNATc.1306G= (p.Gly436=)
n.239G=
c.457G= (p.Gly153=)
c.410G=
c.1114G= (p.Gly372=)
c.442G= (p.Gly148=)
8g.43192359G>TCA371119651HGSNATc.1306G>T (p.Gly436Ter)
n.239G>T
c.457G>T (p.Gly153Ter)
c.410G>T
c.1114G>T (p.Gly372Ter)
c.442G>T (p.Gly148Ter)
 dbSNP
8g.43192360G>ACA371119654HGSNATc.1307G>A (p.Gly436Glu)
n.240G>A
c.458G>A (p.Gly153Glu)
c.411G>A
c.1115G>A (p.Gly372Glu)
c.443G>A (p.Gly148Glu)
8g.43192360G>CCA371119655HGSNATc.1307G>C (p.Gly436Ala)
n.240G>C
c.458G>C (p.Gly153Ala)
c.411G>C
c.1115G>C (p.Gly372Ala)
c.443G>C (p.Gly148Ala)
8g.43192360G>TCA371119656HGSNATc.1307G>T (p.Gly436Val)
n.240G>T
c.458G>T (p.Gly153Val)
c.411G>T
c.1115G>T (p.Gly372Val)
c.443G>T (p.Gly148Val)
8g.43192361A>CCA460578337HGSNATc.1308A>C (p.Gly436=)
n.241A>C
c.459A>C (p.Gly153=)
c.412A>C
c.1116A>C (p.Gly372=)
c.444A>C (p.Gly148=)
8g.43192361A>GCA460578333HGSNATc.1308A>G (p.Gly436=)
n.241A>G
c.459A>G (p.Gly153=)
c.412A>G
c.1116A>G (p.Gly372=)
c.444A>G (p.Gly148=)
8g.43192361A>TCA460578335HGSNATc.1308A>T (p.Gly436=)
n.241A>T
c.459A>T (p.Gly153=)
c.412A>T
c.1116A>T (p.Gly372=)
c.444A>T (p.Gly148=)
8g.43192362G>ACA371119657HGSNATc.1309G>A (p.Gly437Arg)
n.242G>A
c.460G>A (p.Gly154Arg)
c.413G>A
c.1117G>A (p.Gly373Arg)
c.445G>A (p.Gly149Arg)
8g.43192362G>CCA371119658HGSNATc.1309G>C (p.Gly437Arg)
n.242G>C
c.460G>C (p.Gly154Arg)
c.413G>C
c.1117G>C (p.Gly373Arg)
c.445G>C (p.Gly149Arg)
8g.43192362G>TCA371119659HGSNATc.1309G>T (p.Gly437Ter)
n.242G>T
c.460G>T (p.Gly154Ter)
c.413G>T
c.1117G>T (p.Gly373Ter)
c.445G>T (p.Gly149Ter)
8g.43192363G>ACA371119662HGSNATc.1310G>A (p.Gly437Glu)
n.243G>A
c.461G>A (p.Gly154Glu)
c.414G>A
c.1118G>A (p.Gly373Glu)
c.446G>A (p.Gly149Glu)
8g.43192363G>CCA371119660HGSNATc.1310G>C (p.Gly437Ala)
n.243G>C
c.461G>C (p.Gly154Ala)
c.414G>C
c.1118G>C (p.Gly373Ala)
c.446G>C (p.Gly149Ala)
8g.43192363G>TCA371119661HGSNATc.1310G>T (p.Gly437Val)
n.243G>T
c.461G>T (p.Gly154Val)
c.414G>T
c.1118G>T (p.Gly373Val)
c.446G>T (p.Gly149Val)
8g.43192364A>CCA460578345HGSNATc.1311A>C (p.Gly437=)
n.244A>C
c.462A>C (p.Gly154=)
c.415A>C
c.1119A>C (p.Gly373=)
c.447A>C (p.Gly149=)
8g.43192364A>GCA460578348HGSNATc.1311A>G (p.Gly437=)
n.244A>G
c.462A>G (p.Gly154=)
c.415A>G
c.1119A>G (p.Gly373=)
c.447A>G (p.Gly149=)
8g.43192364A>TCA460578350HGSNATc.1311A>T (p.Gly437=)
n.244A>T
c.462A>T (p.Gly154=)
c.415A>T
c.1119A>T (p.Gly373=)
c.447A>T (p.Gly149=)
8g.43192365G>ACA4736840HGSNATc.1312G>A (p.Ala438Thr)
n.245G>A
c.463G>A (p.Ala155Thr)
c.416G>A
c.1120G>A (p.Ala374Thr)
c.448G>A (p.Ala150Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43192365G>CCA371119663HGSNATc.1312G>C (p.Ala438Pro)
n.245G>C
c.463G>C (p.Ala155Pro)
c.416G>C
c.1120G>C (p.Ala374Pro)
c.448G>C (p.Ala150Pro)
8g.43192365G=CA1779759958HGSNATc.1312G= (p.Ala438=)
n.245G=
c.463G= (p.Ala155=)
c.416G=
c.1120G= (p.Ala374=)
c.448G= (p.Ala150=)
8g.43192365G>TCA371119664HGSNATc.1312G>T (p.Ala438Ser)
n.245G>T
c.463G>T (p.Ala155Ser)
c.416G>T
c.1120G>T (p.Ala374Ser)
c.448G>T (p.Ala150Ser)
 gnomAD v4
8g.43192366C>ACA371119665HGSNATc.1313C>A (p.Ala438Asp)
n.246C>A
c.464C>A (p.Ala155Asp)
c.417C>A
c.1121C>A (p.Ala374Asp)
c.449C>A (p.Ala150Asp)
8g.43192366C=CA1779759959HGSNATc.1313C= (p.Ala438=)
n.246C=
c.464C= (p.Ala155=)
c.417C=
c.1121C= (p.Ala374=)
c.449C= (p.Ala150=)
8g.43192366C>GCA371119666HGSNATc.1313C>G (p.Ala438Gly)
n.246C>G
c.464C>G (p.Ala155Gly)
c.417C>G
c.1121C>G (p.Ala374Gly)
c.449C>G (p.Ala150Gly)
 dbSNP gnomAD v4
8g.43192366C>TCA176073957HGSNATc.1313C>T (p.Ala438Val)
n.246C>T
c.464C>T (p.Ala155Val)
c.417C>T
c.1121C>T (p.Ala374Val)
c.449C>T (p.Ala150Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43192367T>ACA460578359HGSNATc.1314T>A (p.Ala438=)
n.247T>A
c.465T>A (p.Ala155=)
c.418T>A
c.1122T>A (p.Ala374=)
c.450T>A (p.Ala150=)
8g.43192367T>CCA4736841HGSNATc.1314T>C (p.Ala438=)
n.247T>C
c.465T>C (p.Ala155=)
c.418T>C
c.1122T>C (p.Ala374=)
c.450T>C (p.Ala150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43192367T>GCA460578362HGSNATc.1314T>G (p.Ala438=)
n.247T>G
c.465T>G (p.Ala155=)
c.418T>G
c.1122T>G (p.Ala374=)
c.450T>G (p.Ala150=)
8g.43192367T=CA1779759960HGSNATc.1314T= (p.Ala438=)
n.247T=
c.465T= (p.Ala155=)
c.418T=
c.1122T= (p.Ala374=)
c.450T= (p.Ala150=)
8g.43192368G>ACA371119667HGSNATc.1315G>A (p.Ala439Thr)
n.248G>A
c.466G>A (p.Ala156Thr)
c.419G>A
c.1123G>A (p.Ala375Thr)
c.451G>A (p.Ala151Thr)
 gnomAD v4
8g.43192368G>CCA371119668HGSNATc.1315G>C (p.Ala439Pro)
n.248G>C
c.466G>C (p.Ala156Pro)
c.419G>C
c.1123G>C (p.Ala375Pro)
c.451G>C (p.Ala151Pro)
8g.43192368G=CA1779759961HGSNATc.1315G= (p.Ala439=)
n.248G=
c.466G= (p.Ala156=)
c.419G=
c.1123G= (p.Ala375=)
c.451G= (p.Ala151=)
8g.43192368G>TCA371119669HGSNATc.1315G>T (p.Ala439Ser)
n.248G>T
c.466G>T (p.Ala156Ser)
c.419G>T
c.1123G>T (p.Ala375Ser)
c.451G>T (p.Ala151Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.43192369C>ACA371119670HGSNATc.1316C>A (p.Ala439Glu)
n.249C>A
c.467C>A (p.Ala156Glu)
c.420C>A
c.1124C>A (p.Ala375Glu)
c.452C>A (p.Ala151Glu)
8g.43192369C=CA1779759962HGSNATc.1316C= (p.Ala439=)
n.249C=
c.467C= (p.Ala156=)
c.420C=
c.1124C= (p.Ala375=)
c.452C= (p.Ala151=)
8g.43192369C>GCA371119671HGSNATc.1316C>G (p.Ala439Gly)
n.249C>G
c.467C>G (p.Ala156Gly)
c.420C>G
c.1124C>G (p.Ala375Gly)
c.452C>G (p.Ala151Gly)
 ClinVar dbSNP
8g.43192369C>TCA371119672HGSNATc.1316C>T (p.Ala439Val)
n.249C>T
c.467C>T (p.Ala156Val)
c.420C>T
c.1124C>T (p.Ala375Val)
c.452C>T (p.Ala151Val)
8g.43192370A>CCA460578371HGSNATc.1317A>C (p.Ala439=)
n.250A>C
c.468A>C (p.Ala156=)
c.421A>C
c.1125A>C (p.Ala375=)
c.453A>C (p.Ala151=)
8g.43192370A>GCA460578372HGSNATc.1317A>G (p.Ala439=)
n.250A>G
c.468A>G (p.Ala156=)
c.421A>G
c.1125A>G (p.Ala375=)
c.453A>G (p.Ala151=)
 dbSNP
8g.43192370A>TCA460578375HGSNATc.1317A>T (p.Ala439=)
n.250A>T
c.468A>T (p.Ala156=)
c.421A>T
c.1125A>T (p.Ala375=)
c.453A>T (p.Ala151=)
8g.43192371G>ACA371119673HGSNATc.1318G>A (p.Gly440Ser)
n.251G>A
c.469G>A (p.Gly157Ser)
c.422G>A
c.1126G>A (p.Gly376Ser)
c.454G>A (p.Gly152Ser)
 gnomAD v4
8g.43192371G>CCA371119675HGSNATc.1318G>C (p.Gly440Arg)
n.251G>C
c.469G>C (p.Gly157Arg)
c.422G>C
c.1126G>C (p.Gly376Arg)
c.454G>C (p.Gly152Arg)
8g.43192371G>TCA371119674HGSNATc.1318G>T (p.Gly440Cys)
n.251G>T
c.469G>T (p.Gly157Cys)
c.422G>T
c.1126G>T (p.Gly376Cys)
c.454G>T (p.Gly152Cys)
8g.43192372G>ACA371119676HGSNATc.1319G>A (p.Gly440Asp)
n.252G>A
c.470G>A (p.Gly157Asp)
c.423G>A
c.1127G>A (p.Gly376Asp)
c.455G>A (p.Gly152Asp)
 dbSNP gnomAD v2
8g.43192372G>CCA371119677HGSNATc.1319G>C (p.Gly440Ala)
n.252G>C
c.470G>C (p.Gly157Ala)
c.423G>C
c.1127G>C (p.Gly376Ala)
c.455G>C (p.Gly152Ala)
8g.43192372G=CA1779759963HGSNATc.1319G= (p.Gly440=)
n.252G=
c.470G= (p.Gly157=)
c.423G=
c.1127G= (p.Gly376=)
c.455G= (p.Gly152=)
8g.43192372G>TCA371119678HGSNATc.1319G>T (p.Gly440Val)
n.252G>T
c.470G>T (p.Gly157Val)
c.423G>T
c.1127G>T (p.Gly376Val)
c.455G>T (p.Gly152Val)
8g.43192373C>ACA460578386HGSNATc.1320C>A (p.Gly440=)
n.253C>A
c.471C>A (p.Gly157=)
c.424C>A
c.1128C>A (p.Gly376=)
c.456C>A (p.Gly152=)
8g.43192373C>GCA460578388HGSNATc.1320C>G (p.Gly440=)
n.253C>G
c.471C>G (p.Gly157=)
c.424C>G
c.1128C>G (p.Gly376=)
c.456C>G (p.Gly152=)
 gnomAD v4
8g.43192373C>TCA460578390HGSNATc.1320C>T (p.Gly440=)
n.253C>T
c.471C>T (p.Gly157=)
c.424C>T
c.1128C>T (p.Gly376=)
c.456C>T (p.Gly152=)
8g.43192374T>ACA371119679HGSNATc.1321T>A (p.Tyr441Asn)
n.254T>A
c.472T>A (p.Tyr158Asn)
c.425T>A
c.1129T>A (p.Tyr377Asn)
c.457T>A (p.Tyr153Asn)
8g.43192374T>CCA371119680HGSNATc.1321T>C (p.Tyr441His)
n.254T>C
c.472T>C (p.Tyr158His)
c.425T>C
c.1129T>C (p.Tyr377His)
c.457T>C (p.Tyr153His)
8g.43192374T>GCA371119681HGSNATc.1321T>G (p.Tyr441Asp)
n.254T>G
c.472T>G (p.Tyr158Asp)
c.425T>G
c.1129T>G (p.Tyr377Asp)
c.457T>G (p.Tyr153Asp)
8g.43192375A=CA1779759964HGSNATc.1322A= (p.Tyr441=)
n.255A=
c.473A= (p.Tyr158=)
c.426A=
c.1130A= (p.Tyr377=)
c.458A= (p.Tyr153=)
8g.43192375A>CCA371119684HGSNATc.1322A>C (p.Tyr441Ser)
n.255A>C
c.473A>C (p.Tyr158Ser)
c.426A>C
c.1130A>C (p.Tyr377Ser)
c.458A>C (p.Tyr153Ser)
8g.43192375A>GCA371119682HGSNATc.1322A>G (p.Tyr441Cys)
n.255A>G
c.473A>G (p.Tyr158Cys)
c.426A>G
c.1130A>G (p.Tyr377Cys)
c.458A>G (p.Tyr153Cys)
 dbSNP gnomAD v4
8g.43192375A>TCA371119683HGSNATc.1322A>T (p.Tyr441Phe)
n.255A>T
c.473A>T (p.Tyr158Phe)
c.426A>T
c.1130A>T (p.Tyr377Phe)
c.458A>T (p.Tyr153Phe)
8g.43192376C>ACA371119685HGSNATc.1323C>A (p.Tyr441Ter)
n.256C>A
c.474C>A (p.Tyr158Ter)
c.427C>A
c.1131C>A (p.Tyr377Ter)
c.459C>A (p.Tyr153Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.43192376C=CA1779759965HGSNATc.1323C= (p.Tyr441=)
n.256C=
c.474C= (p.Tyr158=)
c.427C=
c.1131C= (p.Tyr377=)
c.459C= (p.Tyr153=)
8g.43192376C>GCA371119686HGSNATc.1323C>G (p.Tyr441Ter)
n.256C>G
c.474C>G (p.Tyr158Ter)
c.427C>G
c.1131C>G (p.Tyr377Ter)
c.459C>G (p.Tyr153Ter)
8g.43192376C>TCA460578399HGSNATc.1323C>T (p.Tyr441=)
n.256C>T
c.474C>T (p.Tyr158=)
c.427C>T
c.1131C>T (p.Tyr377=)
c.459C>T (p.Tyr153=)
8g.43192377A=CA1779759966HGSNATc.1324A= (p.Ile442=)
n.257A=
c.475A= (p.Ile159=)
c.428A=
c.1132A= (p.Ile378=)
c.460A= (p.Ile154=)
8g.43192377A>CCA371119687HGSNATc.1324A>C (p.Ile442Leu)
n.257A>C
c.475A>C (p.Ile159Leu)
c.428A>C
c.1132A>C (p.Ile378Leu)
c.460A>C (p.Ile154Leu)
8g.43192377A>GCA4736842HGSNATc.1324A>G (p.Ile442Val)
n.257A>G
c.475A>G (p.Ile159Val)
c.428A>G
c.1132A>G (p.Ile378Val)
c.460A>G (p.Ile154Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.43192377A>TCA371119688HGSNATc.1324A>T (p.Ile442Phe)
n.257A>T
c.475A>T (p.Ile159Phe)
c.428A>T
c.1132A>T (p.Ile378Phe)
c.460A>T (p.Ile154Phe)
8g.43192378T>ACA371119689HGSNATc.1325T>A (p.Ile442Asn)
n.258T>A
c.476T>A (p.Ile159Asn)
c.429T>A
c.1133T>A (p.Ile378Asn)
c.461T>A (p.Ile154Asn)
8g.43192378T>CCA371119691HGSNATc.1325T>C (p.Ile442Thr)
n.258T>C
c.476T>C (p.Ile159Thr)
c.429T>C
c.1133T>C (p.Ile378Thr)
c.461T>C (p.Ile154Thr)
8g.43192378T>GCA371119690HGSNATc.1325T>G (p.Ile442Ser)
n.258T>G
c.476T>G (p.Ile159Ser)
c.429T>G
c.1133T>G (p.Ile378Ser)
c.461T>G (p.Ile154Ser)
8g.43192379C>ACA460578408HGSNATc.1326C>A (p.Ile442=)
n.259C>A
c.477C>A (p.Ile159=)
c.430C>A
c.1134C>A (p.Ile378=)
c.462C>A (p.Ile154=)
8g.43192379C=CA1779759967HGSNATc.1326C= (p.Ile442=)
n.259C=
c.477C= (p.Ile159=)
c.430C=
c.1134C= (p.Ile378=)
c.462C= (p.Ile154=)
8g.43192379C>GCA371119692HGSNATc.1326C>G (p.Ile442Met)
n.259C>G
c.477C>G (p.Ile159Met)
c.430C>G
c.1134C>G (p.Ile378Met)
c.462C>G (p.Ile154Met)
 gnomAD v4
8g.43192379C>TCA4736843HGSNATc.1326C>T (p.Ile442=)
n.259C>T
c.477C>T (p.Ile159=)
c.430C>T
c.1134C>T (p.Ile378=)
c.462C>T (p.Ile154=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.43192380G>ACA4736844HGSNATc.1327G>A (p.Asp443Asn)
n.260G>A
c.478G>A (p.Asp160Asn)
c.431G>A
c.1135G>A (p.Asp379Asn)
c.463G>A (p.Asp155Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43192380G>CCA371119693HGSNATc.1327G>C (p.Asp443His)
n.260G>C
c.478G>C (p.Asp160His)
c.431G>C
c.1135G>C (p.Asp379His)
c.463G>C (p.Asp155His)
8g.43192380G=CA1779759968HGSNATc.1327G= (p.Asp443=)
n.260G=
c.478G= (p.Asp160=)
c.431G=
c.1135G= (p.Asp379=)
c.463G= (p.Asp155=)
8g.43192380G>TCA371119694HGSNATc.1327G>T (p.Asp443Tyr)
n.260G>T
c.478G>T (p.Asp160Tyr)
c.431G>T
c.1135G>T (p.Asp379Tyr)
c.463G>T (p.Asp155Tyr)
 gnomAD v4
8g.43192381A>CCA371119695HGSNATc.1328A>C (p.Asp443Ala)
n.261A>C
c.479A>C (p.Asp160Ala)
c.432A>C
c.1136A>C (p.Asp379Ala)
c.464A>C (p.Asp155Ala)
 gnomAD v4
8g.43192381A>GCA371119696HGSNATc.1328A>G (p.Asp443Gly)
n.261A>G
c.479A>G (p.Asp160Gly)
c.432A>G
c.1136A>G (p.Asp379Gly)
c.464A>G (p.Asp155Gly)
8g.43192381A>TCA371119697HGSNATc.1328A>T (p.Asp443Val)
n.261A>T
c.479A>T (p.Asp160Val)
c.432A>T
c.1136A>T (p.Asp379Val)
c.464A>T (p.Asp155Val)
8g.43192381_43192384delinsACCGCA1779759969HGSNATc.1328_1331delinsACCG (p.Asp443=)
n.261_264delinsACCG
c.479_482delinsACCG (p.Asp160=)
c.432_435delinsACCG
c.1136_1139delinsACCG (p.Asp379=)
c.464_467delinsACCG (p.Asp155=)
8g.43192382C>ACA371119698HGSNATc.1329C>A (p.Asp443Glu)
n.262C>A
c.480C>A (p.Asp160Glu)
c.433C>A
c.1137C>A (p.Asp379Glu)
c.465C>A (p.Asp155Glu)
8g.43192382C>GCA371119699HGSNATc.1329C>G (p.Asp443Glu)
n.262C>G
c.480C>G (p.Asp160Glu)
c.433C>G
c.1137C>G (p.Asp379Glu)
c.465C>G (p.Asp155Glu)
 gnomAD v4
8g.43192382C>TCA460578425HGSNATc.1329C>T (p.Asp443=)
n.262C>T
c.480C>T (p.Asp160=)
c.433C>T
c.1137C>T (p.Asp379=)
c.465C>T (p.Asp155=)
8g.43192384_43192386delCA1779759970HGSNATc.1331_1333del (p.Arg444del)
n.264_266del
c.482_484del (p.Arg161del)
c.435_437del
c.1139_1141del (p.Arg380del)
c.467_469del (p.Arg156del)
 ClinVar dbSNP
8g.43192383C>ACA371119700HGSNATc.1330C>A (p.Arg444Ser)
n.263C>A
c.481C>A (p.Arg161Ser)
c.434C>A
c.1138C>A (p.Arg380Ser)
c.466C>A (p.Arg156Ser)
8g.43192383C=CA1779759971HGSNATc.1330C= (p.Arg444=)
n.263C=
c.481C= (p.Arg161=)
c.434C=
c.1138C= (p.Arg380=)
c.466C= (p.Arg156=)
8g.43192383C>GCA4736845HGSNATc.1330C>G (p.Arg444Gly)
n.263C>G
c.481C>G (p.Arg161Gly)
c.434C>G
c.1138C>G (p.Arg380Gly)
c.466C>G (p.Arg156Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43192383C>TCA371119701HGSNATc.1330C>T (p.Arg444Cys)
n.263C>T
c.481C>T (p.Arg161Cys)
c.434C>T
c.1138C>T (p.Arg380Cys)
c.466C>T (p.Arg156Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.43192384G>ACA4736846HGSNATc.1331G>A (p.Arg444His)
n.264G>A
c.482G>A (p.Arg161His)
c.435G>A
c.1139G>A (p.Arg380His)
c.467G>A (p.Arg156His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.43192384G>CCA371119703HGSNATc.1331G>C (p.Arg444Pro)
n.264G>C
c.482G>C (p.Arg161Pro)
c.435G>C
c.1139G>C (p.Arg380Pro)
c.467G>C (p.Arg156Pro)
8g.43192384G=CA1779759972HGSNATc.1331G= (p.Arg444=)
n.264G=
c.482G= (p.Arg161=)
c.435G=
c.1139G= (p.Arg380=)
c.467G= (p.Arg156=)
8g.43192384G>TCA371119702HGSNATc.1331G>T (p.Arg444Leu)
n.264G>T
c.482G>T (p.Arg161Leu)
c.435G>T
c.1139G>T (p.Arg380Leu)
c.467G>T (p.Arg156Leu)
 gnomAD v4
8g.43192385C>ACA460578433HGSNATc.1332C>A (p.Arg444=)
n.265C>A
c.483C>A (p.Arg161=)
c.436C>A
c.1140C>A (p.Arg380=)
c.468C>A (p.Arg156=)
8g.43192385C>GCA460578435HGSNATc.1332C>G (p.Arg444=)
n.265C>G
c.483C>G (p.Arg161=)
c.436C>G
c.1140C>G (p.Arg380=)
c.468C>G (p.Arg156=)
8g.43192385C>TCA460578437HGSNATc.1332C>T (p.Arg444=)
n.265C>T
c.483C>T (p.Arg161=)
c.436C>T
c.1140C>T (p.Arg380=)
c.468C>T (p.Arg156=)
8g.43192386C>ACA371119704HGSNATc.1333C>A (p.Leu445Met)
n.266C>A
c.484C>A (p.Leu162Met)
c.437C>A
c.1141C>A (p.Leu381Met)
c.469C>A (p.Leu157Met)
8g.43192386C>GCA371119705HGSNATc.1333C>G (p.Leu445Val)
n.266C>G
c.484C>G (p.Leu162Val)
c.437C>G
c.1141C>G (p.Leu381Val)
c.469C>G (p.Leu157Val)
8g.43192386C>TCA460578442HGSNATc.1333C>T (p.Leu445=)
n.266C>T
c.484C>T (p.Leu162=)
c.437C>T
c.1141C>T (p.Leu381=)
c.469C>T (p.Leu157=)
 gnomAD v4
8g.43192387T>ACA371119706HGSNATc.1334T>A (p.Leu445Gln)
n.267T>A
c.485T>A (p.Leu162Gln)
c.438T>A
c.1142T>A (p.Leu381Gln)
c.470T>A (p.Leu157Gln)
8g.43192387T>CCA371119707HGSNATc.1334T>C (p.Leu445Pro)
n.267T>C
c.485T>C (p.Leu162Pro)
c.438T>C
c.1142T>C (p.Leu381Pro)
c.470T>C (p.Leu157Pro)
8g.43192387T>GCA371119708HGSNATc.1334T>G (p.Leu445Arg)
n.267T>G
c.485T>G (p.Leu162Arg)
c.438T>G
c.1142T>G (p.Leu381Arg)
c.470T>G (p.Leu157Arg)
8g.43192388G>ACA460578453HGSNATc.1335G>A (p.Leu445=)
n.268G>A
c.486G>A (p.Leu162=)
c.439G>A
c.1143G>A (p.Leu381=)
c.471G>A (p.Leu157=)
 gnomAD v4
8g.43192388G>CCA460578449HGSNATc.1335G>C (p.Leu445=)
n.268G>C
c.486G>C (p.Leu162=)
c.439G>C
c.1143G>C (p.Leu381=)
c.471G>C (p.Leu157=)
8g.43192388G>TCA460578451HGSNATc.1335G>T (p.Leu445=)
n.268G>T
c.486G>T (p.Leu162=)
c.439G>T
c.1143G>T (p.Leu381=)
c.471G>T (p.Leu157=)
8g.43192389C>ACA176073971HGSNATc.1336C>A (p.Leu446Met)
n.269C>A
c.487C>A (p.Leu163Met)
c.440C>A
c.1144C>A (p.Leu382Met)
c.472C>A (p.Leu158Met)
 dbSNP
8g.43192389C=CA1779759973HGSNATc.1336C= (p.Leu446=)
n.269C=
c.487C= (p.Leu163=)
c.440C=
c.1144C= (p.Leu382=)
c.472C= (p.Leu158=)
8g.43192389C>GCA371119709HGSNATc.1336C>G (p.Leu446Val)
n.269C>G
c.487C>G (p.Leu163Val)
c.440C>G
c.1144C>G (p.Leu382Val)
c.472C>G (p.Leu158Val)
8g.43192389C>TCA460578457HGSNATc.1336C>T (p.Leu446=)
n.269C>T
c.487C>T (p.Leu163=)
c.440C>T
c.1144C>T (p.Leu382=)
c.472C>T (p.Leu158=)
 dbSNP gnomAD v4
8g.43192390T>ACA371119710HGSNATc.1337T>A (p.Leu446Gln)
n.270T>A
c.488T>A (p.Leu163Gln)
c.441T>A
c.1145T>A (p.Leu382Gln)
c.473T>A (p.Leu158Gln)
 ClinVar dbSNP
8g.43192390T>CCA371119711HGSNATc.1337T>C (p.Leu446Pro)
n.270T>C
c.488T>C (p.Leu163Pro)
c.441T>C
c.1145T>C (p.Leu382Pro)
c.473T>C (p.Leu158Pro)
8g.43192390T>GCA371119712HGSNATc.1337T>G (p.Leu446Arg)
n.270T>G
c.488T>G (p.Leu163Arg)
c.441T>G
c.1145T>G (p.Leu382Arg)
c.473T>G (p.Leu158Arg)
8g.43192390T=CA1779759974HGSNATc.1337T= (p.Leu446=)
n.270T=
c.488T= (p.Leu163=)
c.441T=
c.1145T= (p.Leu382=)
c.473T= (p.Leu158=)
8g.43192391G>ACA460578465HGSNATc.1338G>A (p.Leu446=)
n.271G>A
c.489G>A (p.Leu163=)
c.442G>A
c.1146G>A (p.Leu382=)
c.474G>A (p.Leu158=)
8g.43192391G>CCA460578467HGSNATc.1338G>C (p.Leu446=)
n.271G>C
c.489G>C (p.Leu163=)
c.442G>C
c.1146G>C (p.Leu382=)
c.474G>C (p.Leu158=)
 ClinVar dbSNP gnomAD v4
8g.43192391G>TCA460578469HGSNATc.1338G>T (p.Leu446=)
n.271G>T
c.489G>T (p.Leu163=)
c.442G>T
c.1146G>T (p.Leu382=)
c.474G>T (p.Leu158=)
8g.43192392C>ACA371119713HGSNATc.1339C>A (p.Leu447Met)
n.272C>A
c.490C>A (p.Leu164Met)
c.443C>A
c.1147C>A (p.Leu383Met)
c.475C>A (p.Leu159Met)
8g.43192392C>GCA371119714HGSNATc.1339C>G (p.Leu447Val)
n.272C>G
c.490C>G (p.Leu164Val)
c.443C>G
c.1147C>G (p.Leu383Val)
c.475C>G (p.Leu159Val)
8g.43192392C>TCA460578475HGSNATc.1339C>T (p.Leu447=)
n.272C>T
c.490C>T (p.Leu164=)
c.443C>T
c.1147C>T (p.Leu383=)
c.475C>T (p.Leu159=)
8g.43192393T>ACA371119715HGSNATc.1340T>A (p.Leu447Gln)
n.273T>A
c.491T>A (p.Leu164Gln)
c.444T>A
c.1148T>A (p.Leu383Gln)
c.476T>A (p.Leu159Gln)
8g.43192393T>CCA371119716HGSNATc.1340T>C (p.Leu447Pro)
n.273T>C
c.491T>C (p.Leu164Pro)
c.444T>C
c.1148T>C (p.Leu383Pro)
c.476T>C (p.Leu159Pro)
8g.43192393T>GCA371119717HGSNATc.1340T>G (p.Leu447Arg)
n.273T>G
c.491T>G (p.Leu164Arg)
c.444T>G
c.1148T>G (p.Leu383Arg)
c.476T>G (p.Leu159Arg)
8g.43192394G>ACA460578482HGSNATc.1341G>A (p.Leu447=)
n.274G>A
c.492G>A (p.Leu164=)
c.445G>A
c.1149G>A (p.Leu383=)
c.477G>A (p.Leu159=)
 gnomAD v4
8g.43192394G>CCA460578484HGSNATc.1341G>C (p.Leu447=)
n.274G>C
c.492G>C (p.Leu164=)
c.445G>C
c.1149G>C (p.Leu383=)
c.477G>C (p.Leu159=)
8g.43192394G>TCA460578485HGSNATc.1341G>T (p.Leu447=)
n.274G>T
c.492G>T (p.Leu164=)
c.445G>T
c.1149G>T (p.Leu383=)
c.477G>T (p.Leu159=)
8g.43192395G>ACA371119718HGSNATc.1342G>A (p.Gly448Arg)
n.275G>A
c.493G>A (p.Gly165Arg)
c.446G>A
c.1150G>A (p.Gly384Arg)
c.478G>A (p.Gly160Arg)
8g.43192395G>CCA371119720HGSNATc.1342G>C (p.Gly448Arg)
n.275G>C
c.493G>C (p.Gly165Arg)
c.446G>C
c.1150G>C (p.Gly384Arg)
c.478G>C (p.Gly160Arg)
8g.43192395G>TCA371119719HGSNATc.1342G>T (p.Gly448Ter)
n.275G>T
c.493G>T (p.Gly165Ter)
c.446G>T
c.1150G>T (p.Gly384Ter)
c.478G>T (p.Gly160Ter)
8g.43192396G>ACA371119721HGSNATc.1343G>A (p.Gly448Glu)
n.276G>A
c.494G>A (p.Gly165Glu)
c.447G>A
c.1151G>A (p.Gly384Glu)
c.479G>A (p.Gly160Glu)
8g.43192396G>CCA176073975HGSNATc.1343G>C (p.Gly448Ala)
n.276G>C
c.494G>C (p.Gly165Ala)
c.447G>C
c.1151G>C (p.Gly384Ala)
c.479G>C (p.Gly160Ala)
 dbSNP
8g.43192396G=CA1779759975HGSNATc.1343G= (p.Gly448=)
n.276G=
c.494G= (p.Gly165=)
c.447G=
c.1151G= (p.Gly384=)
c.479G= (p.Gly160=)
8g.43192396G>TCA371119722HGSNATc.1343G>T (p.Gly448Val)
n.276G>T
c.494G>T (p.Gly165Val)
c.447G>T
c.1151G>T (p.Gly384Val)
c.479G>T (p.Gly160Val)
8g.43192397A=CA1779759976HGSNATc.1344A= (p.Gly448=)
n.277A=
c.495A= (p.Gly165=)
c.448A=
c.1152A= (p.Gly384=)
c.480A= (p.Gly160=)
8g.43192397A>CCA460578493HGSNATc.1344A>C (p.Gly448=)
n.277A>C
c.495A>C (p.Gly165=)
c.448A>C
c.1152A>C (p.Gly384=)
c.480A>C (p.Gly160=)
8g.43192397A>GCA460578495HGSNATc.1344A>G (p.Gly448=)
n.277A>G
c.495A>G (p.Gly165=)
c.448A>G
c.1152A>G (p.Gly384=)
c.480A>G (p.Gly160=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.43192397A>TCA460578497HGSNATc.1344A>T (p.Gly448=)
n.277A>T
c.495A>T (p.Gly165=)
c.448A>T
c.1152A>T (p.Gly384=)
c.480A>T (p.Gly160=)
8g.43192398G>ACA371119723HGSNATc.1345G>A (p.Asp449Asn)
n.278G>A
c.496G>A (p.Asp166Asn)
c.449G>A
c.1153G>A (p.Asp385Asn)
c.481G>A (p.Asp161Asn)
8g.43192398G>CCA371119724HGSNATc.1345G>C (p.Asp449His)
n.278G>C
c.496G>C (p.Asp166His)
c.449G>C
c.1153G>C (p.Asp385His)
c.481G>C (p.Asp161His)
8g.43192398G>TCA371119725HGSNATc.1345G>T (p.Asp449Tyr)
n.278G>T
c.496G>T (p.Asp166Tyr)
c.449G>T
c.1153G>T (p.Asp385Tyr)
c.481G>T (p.Asp161Tyr)
8g.43192398dupCA114862HGSNATc.1345dup (p.Asp449GlyfsTer21)
n.278dup
c.496dup (p.Asp166GlyfsTer21)
c.449dup
c.1153dup (p.Asp385GlyfsTer21)
c.481dup (p.Asp161GlyfsTer21)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43192399A>CCA371119726HGSNATc.1346A>C (p.Asp449Ala)
n.279A>C
c.497A>C (p.Asp166Ala)
c.450A>C
c.1154A>C (p.Asp385Ala)
c.482A>C (p.Asp161Ala)
8g.43192399A>GCA371119727HGSNATc.1346A>G (p.Asp449Gly)
n.279A>G
c.497A>G (p.Asp166Gly)
c.450A>G
c.1154A>G (p.Asp385Gly)
c.482A>G (p.Asp161Gly)
 gnomAD v4
8g.43192399A>TCA371119728HGSNATc.1346A>T (p.Asp449Val)
n.279A>T
c.497A>T (p.Asp166Val)
c.450A>T
c.1154A>T (p.Asp385Val)
c.482A>T (p.Asp161Val)
8g.43192400C>ACA371119730HGSNATc.1347C>A (p.Asp449Glu)
n.280C>A
c.498C>A (p.Asp166Glu)
c.451C>A
c.1155C>A (p.Asp385Glu)
c.483C>A (p.Asp161Glu)
8g.43192400C=CA1779759977HGSNATc.1347C= (p.Asp449=)
n.280C=
c.498C= (p.Asp166=)
c.451C=
c.1155C= (p.Asp385=)
c.483C= (p.Asp161=)
8g.43192400C>GCA371119729HGSNATc.1347C>G (p.Asp449Glu)
n.280C>G
c.498C>G (p.Asp166Glu)
c.451C>G
c.1155C>G (p.Asp385Glu)
c.483C>G (p.Asp161Glu)
 gnomAD v4
8g.43192400C>TCA4736847HGSNATc.1347C>T (p.Asp449=)
n.280C>T
c.498C>T (p.Asp166=)
c.451C>T
c.1155C>T (p.Asp385=)
c.483C>T (p.Asp161=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43192400_43192401delinsCGCA1779759978HGSNATc.1347_1348delinsCG (p.Asp449=)
n.280_281delinsCG
c.498_499delinsCG (p.Asp166=)
c.451_452delinsCG
c.1155_1156delinsCG (p.Asp385=)
c.483_484delinsCG (p.Asp161=)
8g.43192401delCA4736848HGSNATc.1348del (p.Asp450IlefsTer?)
n.281del
c.499del (p.Asp167IlefsTer?)
c.452del
c.1156del (p.Asp386IlefsTer?)
c.484del (p.Asp162IlefsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43192401G>ACA176073993HGSNATc.1348G>A (p.Asp450Asn)
n.281G>A
c.499G>A (p.Asp167Asn)
c.452G>A
c.1156G>A (p.Asp386Asn)
c.484G>A (p.Asp162Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.43192401G>CCA371119731HGSNATc.1348G>C (p.Asp450His)
n.281G>C
c.499G>C (p.Asp167His)
c.452G>C
c.1156G>C (p.Asp386His)
c.484G>C (p.Asp162His)
8g.43192401G=CA1779759979HGSNATc.1348G= (p.Asp450=)
n.281G=
c.499G= (p.Asp167=)
c.452G=
c.1156G= (p.Asp386=)
c.484G= (p.Asp162=)
8g.43192401G>TCA371119732HGSNATc.1348G>T (p.Asp450Tyr)
n.281G>T
c.499G>T (p.Asp167Tyr)
c.452G>T
c.1156G>T (p.Asp386Tyr)
c.484G>T (p.Asp162Tyr)
 dbSNP
8g.43192402A>CCA371119733HGSNATc.1349A>C (p.Asp450Ala)
n.282A>C
c.500A>C (p.Asp167Ala)
c.453A>C
c.1157A>C (p.Asp386Ala)
c.485A>C (p.Asp162Ala)
8g.43192402A>GCA371119734HGSNATc.1349A>G (p.Asp450Gly)
n.282A>G
c.500A>G (p.Asp167Gly)
c.453A>G
c.1157A>G (p.Asp386Gly)
c.485A>G (p.Asp162Gly)
8g.43192402A>TCA371119735HGSNATc.1349A>T (p.Asp450Val)
n.282A>T
c.500A>T (p.Asp167Val)
c.453A>T
c.1157A>T (p.Asp386Val)
c.485A>T (p.Asp162Val)
8g.43192403T>ACA371119736HGSNATc.1350T>A (p.Asp450Glu)
n.283T>A
c.501T>A (p.Asp167Glu)
c.454T>A
c.1158T>A (p.Asp386Glu)
c.486T>A (p.Asp162Glu)
8g.43192403T>CCA460578524HGSNATc.1350T>C (p.Asp450=)
n.283T>C
c.501T>C (p.Asp167=)
c.454T>C
c.1158T>C (p.Asp386=)
c.486T>C (p.Asp162=)
8g.43192403T>GCA371119737HGSNATc.1350T>G (p.Asp450Glu)
n.283T>G
c.501T>G (p.Asp167Glu)
c.454T>G
c.1158T>G (p.Asp386Glu)
c.486T>G (p.Asp162Glu)
8g.43192404C>ACA371119738HGSNATc.1351C>A (p.His451Asn)
n.284C>A
c.502C>A (p.His168Asn)
c.455C>A
c.1159C>A (p.His387Asn)
c.487C>A (p.His163Asn)
8g.43192404C>GCA371119739HGSNATc.1351C>G (p.His451Asp)
n.284C>G
c.502C>G (p.His168Asp)
c.455C>G
c.1159C>G (p.His387Asp)
c.487C>G (p.His163Asp)
8g.43192404C>TCA371119740HGSNATc.1351C>T (p.His451Tyr)
n.284C>T
c.502C>T (p.His168Tyr)
c.455C>T
c.1159C>T (p.His387Tyr)
c.487C>T (p.His163Tyr)
8g.43192405A>CCA371119743HGSNATc.1352A>C (p.His451Pro)
n.285A>C
c.503A>C (p.His168Pro)
c.456A>C
c.1160A>C (p.His387Pro)
c.488A>C (p.His163Pro)
8g.43192405A>GCA371119741HGSNATc.1352A>G (p.His451Arg)
n.285A>G
c.503A>G (p.His168Arg)
c.456A>G
c.1160A>G (p.His387Arg)
c.488A>G (p.His163Arg)
8g.43192405A>TCA371119742HGSNATc.1352A>T (p.His451Leu)
n.285A>T
c.503A>T (p.His168Leu)
c.456A>T
c.1160A>T (p.His387Leu)
c.488A>T (p.His163Leu)
8g.43192406C>ACA371119744HGSNATc.1353C>A (p.His451Gln)
n.286C>A
c.504C>A (p.His168Gln)
c.457C>A
c.1161C>A (p.His387Gln)
c.489C>A (p.His163Gln)
8g.43192406C>GCA371119745HGSNATc.1353C>G (p.His451Gln)
n.286C>G
c.504C>G (p.His168Gln)
c.457C>G
c.1161C>G (p.His387Gln)
c.489C>G (p.His163Gln)
8g.43192406C>TCA460578533HGSNATc.1353C>T (p.His451=)
n.286C>T
c.504C>T (p.His168=)
c.457C>T
c.1161C>T (p.His387=)
c.489C>T (p.His163=)
 ClinVar gnomAD v4
8g.43192407C>ACA371119746HGSNATc.1354C>A (p.Leu452Ile)
n.287C>A
c.505C>A (p.Leu169Ile)
c.458C>A
c.1162C>A (p.Leu388Ile)
c.490C>A (p.Leu164Ile)
8g.43192407C=CA1779759980HGSNATc.1354C= (p.Leu452=)
n.287C=
c.505C= (p.Leu169=)
c.458C=
c.1162C= (p.Leu388=)
c.490C= (p.Leu164=)
8g.43192407C>GCA371119747HGSNATc.1354C>G (p.Leu452Val)
n.287C>G
c.505C>G (p.Leu169Val)
c.458C>G
c.1162C>G (p.Leu388Val)
c.490C>G (p.Leu164Val)
 dbSNP
8g.43192407C>TCA371119748HGSNATc.1354C>T (p.Leu452Phe)
n.287C>T
c.505C>T (p.Leu169Phe)
c.458C>T
c.1162C>T (p.Leu388Phe)
c.490C>T (p.Leu164Phe)
8g.43192408T>ACA371119749HGSNATc.1355T>A (p.Leu452His)
n.288T>A
c.506T>A (p.Leu169His)
c.459T>A
c.1163T>A (p.Leu388His)
c.491T>A (p.Leu164His)
8g.43192408T>CCA371119750HGSNATc.1355T>C (p.Leu452Pro)
n.288T>C
c.506T>C (p.Leu169Pro)
c.459T>C
c.1163T>C (p.Leu388Pro)
c.491T>C (p.Leu164Pro)
8g.43192408T>GCA371119751HGSNATc.1355T>G (p.Leu452Arg)
n.288T>G
c.506T>G (p.Leu169Arg)
c.459T>G
c.1163T>G (p.Leu388Arg)
c.491T>G (p.Leu164Arg)
 gnomAD v4
8g.43192409T>ACA460578541HGSNATc.1356T>A (p.Leu452=)
n.289T>A
c.507T>A (p.Leu169=)
c.460T>A
c.1164T>A (p.Leu388=)
c.492T>A (p.Leu164=)
8g.43192409T>CCA460578543HGSNATc.1356T>C (p.Leu452=)
n.289T>C
c.507T>C (p.Leu169=)
c.460T>C
c.1164T>C (p.Leu388=)
c.492T>C (p.Leu164=)
8g.43192409T>GCA460578545HGSNATc.1356T>G (p.Leu452=)
n.289T>G
c.507T>G (p.Leu169=)
c.460T>G
c.1164T>G (p.Leu388=)
c.492T>G (p.Leu164=)
8g.43192409_43192411delCA2580078505HGSNATc.1356_1358del (p.Tyr453del)
n.289_291del
c.507_509del (p.Tyr170del)
c.460_462del
c.1164_1166del (p.Tyr389del)
c.492_494del (p.Tyr165del)
 ClinVar
8g.43192410T>ACA371119752HGSNATc.1357T>A (p.Tyr453Asn)
n.290T>A
c.508T>A (p.Tyr170Asn)
c.461T>A
c.1165T>A (p.Tyr389Asn)
c.493T>A (p.Tyr165Asn)
8g.43192410T>CCA371119753HGSNATc.1357T>C (p.Tyr453His)
n.290T>C
c.508T>C (p.Tyr170His)
c.461T>C
c.1165T>C (p.Tyr389His)
c.493T>C (p.Tyr165His)
8g.43192410T>GCA371119754HGSNATc.1357T>G (p.Tyr453Asp)
n.290T>G
c.508T>G (p.Tyr170Asp)
c.461T>G
c.1165T>G (p.Tyr389Asp)
c.493T>G (p.Tyr165Asp)
8g.43192411A>CCA371119757HGSNATc.1358A>C (p.Tyr453Ser)
n.291A>C
c.509A>C (p.Tyr170Ser)
c.462A>C
c.1166A>C (p.Tyr389Ser)
c.494A>C (p.Tyr165Ser)
8g.43192411A>GCA371119756HGSNATc.1358A>G (p.Tyr453Cys)
n.291A>G
c.509A>G (p.Tyr170Cys)
c.462A>G
c.1166A>G (p.Tyr389Cys)
c.494A>G (p.Tyr165Cys)
 ClinVar
8g.43192411A>TCA371119755HGSNATc.1358A>T (p.Tyr453Phe)
n.291A>T
c.509A>T (p.Tyr170Phe)
c.462A>T
c.1166A>T (p.Tyr389Phe)
c.494A>T (p.Tyr165Phe)
8g.43192411_43192414delCA2580078506HGSNATc.1358_1361del (p.Tyr453CysfsTer28)
n.291_294del
c.509_512del (p.Tyr170CysfsTer28)
c.462_465del
c.1166_1169del (p.Tyr389CysfsTer28)
c.494_497del (p.Tyr165CysfsTer28)
 ClinVar
8g.43192412C>ACA371119758HGSNATc.1359C>A (p.Tyr453Ter)
n.292C>A
c.510C>A (p.Tyr170Ter)
c.463C>A
c.1167C>A (p.Tyr389Ter)
c.495C>A (p.Tyr165Ter)
8g.43192412C=CA1779759981HGSNATc.1359C= (p.Tyr453=)
n.292C=
c.510C= (p.Tyr170=)
c.463C=
c.1167C= (p.Tyr389=)
c.495C= (p.Tyr165=)
8g.43192412C>GCA371119759HGSNATc.1359C>G (p.Tyr453Ter)
n.292C>G
c.510C>G (p.Tyr170Ter)
c.463C>G
c.1167C>G (p.Tyr389Ter)
c.495C>G (p.Tyr165Ter)
8g.43192412C>TCA176073996HGSNATc.1359C>T (p.Tyr453=)
n.292C>T
c.510C>T (p.Tyr170=)
c.463C>T
c.1167C>T (p.Tyr389=)
c.495C>T (p.Tyr165=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.43192413C>ACA371119760HGSNATc.1360C>A (p.Gln454Lys)
n.293C>A
c.511C>A (p.Gln171Lys)
c.464C>A
c.1168C>A (p.Gln390Lys)
c.496C>A (p.Gln166Lys)
8g.43192413C=CA1779759982HGSNATc.1360C= (p.Gln454=)
n.293C=
c.511C= (p.Gln171=)
c.464C=
c.1168C= (p.Gln390=)
c.496C= (p.Gln166=)
8g.43192413C>GCA371119761HGSNATc.1360C>G (p.Gln454Glu)
n.293C>G
c.511C>G (p.Gln171Glu)
c.464C>G
c.1168C>G (p.Gln390Glu)
c.496C>G (p.Gln166Glu)
8g.43192413C>TCA16043726HGSNATc.1360C>T (p.Gln454Ter)
n.293C>T
c.511C>T (p.Gln171Ter)
c.464C>T
c.1168C>T (p.Gln390Ter)
c.496C>T (p.Gln166Ter)
 ClinVar dbSNP gnomAD v4
8g.43192414delCA2687151793HGSNATc.1361del (p.Gln454ArgfsTer28)
n.294del
c.512del (p.Gln171ArgfsTer28)
c.465del
c.1169del (p.Gln390ArgfsTer28)
c.497del (p.Gln166ArgfsTer28)
 gnomAD v4
8g.43192414A=CA1779759983HGSNATc.1361A= (p.Gln454=)
n.294A=
c.512A= (p.Gln171=)
c.465A=
c.1169A= (p.Gln390=)
c.497A= (p.Gln166=)
8g.43192414A>CCA371119762HGSNATc.1361A>C (p.Gln454Pro)
n.294A>C
c.512A>C (p.Gln171Pro)
c.465A>C
c.1169A>C (p.Gln390Pro)
c.497A>C (p.Gln166Pro)
8g.43192414A>GCA371119763HGSNATc.1361A>G (p.Gln454Arg)
n.294A>G
c.512A>G (p.Gln171Arg)
c.465A>G
c.1169A>G (p.Gln390Arg)
c.497A>G (p.Gln166Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43192414A>TCA371119764HGSNATc.1361A>T (p.Gln454Leu)
n.294A>T
c.512A>T (p.Gln171Leu)
c.465A>T
c.1169A>T (p.Gln390Leu)
c.497A>T (p.Gln166Leu)
 gnomAD v4
8g.43192415G>ACA460578565HGSNATc.1362G>A (p.Gln454=)
n.295G>A
c.513G>A (p.Gln171=)
c.466G>A
c.1170G>A (p.Gln390=)
c.498G>A (p.Gln166=)
8g.43192415G>CCA371119765HGSNATc.1362G>C (p.Gln454His)
n.295G>C
c.513G>C (p.Gln171His)
c.466G>C
c.1170G>C (p.Gln390His)
c.498G>C (p.Gln166His)
8g.43192415G>TCA371119766HGSNATc.1362G>T (p.Gln454His)
n.295G>T
c.513G>T (p.Gln171His)
c.466G>T
c.1170G>T (p.Gln390His)
c.498G>T (p.Gln166His)
8g.43192416C>ACA371119767HGSNATc.1363C>A (p.His455Asn)
n.296C>A
c.514C>A (p.His172Asn)
c.467C>A
c.1171C>A (p.His391Asn)
c.499C>A (p.His167Asn)
8g.43192416C=CA1779759984HGSNATc.1363C= (p.His455=)
n.296C=
c.514C= (p.His172=)
c.467C=
c.1171C= (p.His391=)
c.499C= (p.His167=)
8g.43192416C>GCA371119768HGSNATc.1363C>G (p.His455Asp)
n.296C>G
c.514C>G (p.His172Asp)
c.467C>G
c.1171C>G (p.His391Asp)
c.499C>G (p.His167Asp)
8g.43192416C>TCA371119769HGSNATc.1363C>T (p.His455Tyr)
n.296C>T
c.514C>T (p.His172Tyr)
c.467C>T
c.1171C>T (p.His391Tyr)
c.499C>T (p.His167Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.43192417A>CCA371119772HGSNATc.1364A>C (p.His455Pro)
n.297A>C
c.515A>C (p.His172Pro)
c.468A>C
c.1172A>C (p.His391Pro)
c.500A>C (p.His167Pro)
8g.43192417A>GCA371119770HGSNATc.1364A>G (p.His455Arg)
n.297A>G
c.515A>G (p.His172Arg)
c.468A>G
c.1172A>G (p.His391Arg)
c.500A>G (p.His167Arg)
8g.43192417A>TCA371119771HGSNATc.1364A>T (p.His455Leu)
n.297A>T
c.515A>T (p.His172Leu)
c.468A>T
c.1172A>T (p.His391Leu)
c.500A>T (p.His167Leu)
8g.43192418C>ACA371119773HGSNATc.1365C>A (p.His455Gln)
n.298C>A
c.516C>A (p.His172Gln)
c.469C>A
c.1173C>A (p.His391Gln)
c.501C>A (p.His167Gln)
8g.43192418C>GCA371119774HGSNATc.1365C>G (p.His455Gln)
n.298C>G
c.516C>G (p.His172Gln)
c.469C>G
c.1173C>G (p.His391Gln)
c.501C>G (p.His167Gln)
8g.43192418C>TCA460578576HGSNATc.1365C>T (p.His455=)
n.298C>T
c.516C>T (p.His172=)
c.469C>T
c.1173C>T (p.His391=)
c.501C>T (p.His167=)
8g.43192419C>ACA371119775HGSNATc.1366C>A (p.Pro456Thr)
n.299C>A
c.517C>A (p.Pro173Thr)
c.470C>A
c.1174C>A (p.Pro392Thr)
c.502C>A (p.Pro168Thr)
8g.43192419C>GCA371119776HGSNATc.1366C>G (p.Pro456Ala)
n.299C>G
c.517C>G (p.Pro173Ala)
c.470C>G
c.1174C>G (p.Pro392Ala)
c.502C>G (p.Pro168Ala)
8g.43192419C>TCA371119777HGSNATc.1366C>T (p.Pro456Ser)
n.299C>T
c.517C>T (p.Pro173Ser)
c.470C>T
c.1174C>T (p.Pro392Ser)
c.502C>T (p.Pro168Ser)
8g.43192420C>ACA371119778HGSNATc.1367C>A (p.Pro456Gln)
n.300C>A
c.518C>A (p.Pro173Gln)
c.471C>A
c.1175C>A (p.Pro392Gln)
c.503C>A (p.Pro168Gln)
8g.43192420C>GCA371119779HGSNATc.1367C>G (p.Pro456Arg)
n.300C>G
c.518C>G (p.Pro173Arg)
c.471C>G
c.1175C>G (p.Pro392Arg)
c.503C>G (p.Pro168Arg)
8g.43192420C>TCA371119780HGSNATc.1367C>T (p.Pro456Leu)
n.300C>T
c.518C>T (p.Pro173Leu)
c.471C>T
c.1175C>T (p.Pro392Leu)
c.503C>T (p.Pro168Leu)
8g.43192421_43192422insACCAAACACACCCAACACACA2779901289HGSNATc.1368_1369insACCAAACACACCCAACACA (p.Ser457ThrfsTer19)
n.301_302insACCAAACACACCCAACACA
c.519_520insACCAAACACACCCAACACA (p.Ser174ThrfsTer19)
c.472_473insACCAAACACACCCAACACA
c.1176_1177insACCAAACACACCCAACACA (p.Ser393ThrfsTer19)
c.504_505insACCAAACACACCCAACACA (p.Ser169ThrfsTer19)

Number of alleles fetched