Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.43193741G>ACA4736865HGSNATc.1378-16G>A (n.1378-16G>A)
n.311-16G>A
c.529-16G>A (n.529-16G>A)
c.482-16G>A
c.1186-16G>A (n.1186-16G>A)
c.514-16G>A (n.514-16G>A)
 dbSNP ExAC
8g.43193741G=CA1779760557HGSNATc.1378-16G= (n.1378-16G=)
n.311-16G=
c.529-16G= (n.529-16G=)
c.482-16G=
c.1186-16G= (n.1186-16G=)
c.514-16G= (n.514-16G=)
8g.43193742C>ACA2687151987HGSNATc.1378-15C>A (n.1378-15C>A)
n.311-15C>A
c.529-15C>A (n.529-15C>A)
c.482-15C>A
c.1186-15C>A (n.1186-15C>A)
c.514-15C>A (n.514-15C>A)
 gnomAD v4
8g.43193742C>TCA2687151986HGSNATc.1378-15C>T (n.1378-15C>T)
n.311-15C>T
c.529-15C>T (n.529-15C>T)
c.482-15C>T
c.1186-15C>T (n.1186-15C>T)
c.514-15C>T (n.514-15C>T)
 gnomAD v4
8g.43193744T>GCA2573143120HGSNATc.1378-13T>G (n.1378-13T>G)
n.311-13T>G
c.529-13T>G (n.529-13T>G)
c.482-13T>G
c.1186-13T>G (n.1186-13T>G)
c.514-13T>G (n.514-13T>G)
 ClinVar dbSNP gnomAD v4
8g.43193745C>ACA2687151988HGSNATc.1378-12C>A (n.1378-12C>A)
n.311-12C>A
c.529-12C>A (n.529-12C>A)
c.482-12C>A
c.1186-12C>A (n.1186-12C>A)
c.514-12C>A (n.514-12C>A)
 gnomAD v4
8g.43193745C>TCA2687151989HGSNATc.1378-12C>T (n.1378-12C>T)
n.311-12C>T
c.529-12C>T (n.529-12C>T)
c.482-12C>T
c.1186-12C>T (n.1186-12C>T)
c.514-12C>T (n.514-12C>T)
 gnomAD v4
8g.43193746T>CCA581638265HGSNATc.1378-11T>C (n.1378-11T>C)
n.311-11T>C
c.529-11T>C (n.529-11T>C)
c.482-11T>C
c.1186-11T>C (n.1186-11T>C)
c.514-11T>C (n.514-11T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.43193746T=CA1779760558HGSNATc.1378-11T= (n.1378-11T=)
n.311-11T=
c.529-11T= (n.529-11T=)
c.482-11T=
c.1186-11T= (n.1186-11T=)
c.514-11T= (n.514-11T=)
8g.43193747G>ACA2579159359HGSNATc.1378-10G>A (n.1378-10G>A)
n.311-10G>A
c.529-10G>A (n.529-10G>A)
c.482-10G>A
c.1186-10G>A (n.1186-10G>A)
c.514-10G>A (n.514-10G>A)
8g.43193750delCA2687151990HGSNATc.1378-7del (n.1378-7del)
n.311-7del
c.529-7del (n.529-7del)
c.482-7del
c.1186-7del (n.1186-7del)
c.514-7del (n.514-7del)
 gnomAD v4
8g.43193750T>ACA176074473HGSNATc.1378-7T>A (n.1378-7T>A)
n.311-7T>A
c.529-7T>A (n.529-7T>A)
c.482-7T>A
c.1186-7T>A (n.1186-7T>A)
c.514-7T>A (n.514-7T>A)
 dbSNP
8g.43193750T=CA1779760559HGSNATc.1378-7T= (n.1378-7T=)
n.311-7T=
c.529-7T= (n.529-7T=)
c.482-7T=
c.1186-7T= (n.1186-7T=)
c.514-7T= (n.514-7T=)
8g.43193754A>TCA2579159360HGSNATc.1378-3A>T (n.1378-3A>T)
n.311-3A>T
c.529-3A>T (n.529-3A>T)
c.482-3A>T
c.1186-3A>T (n.1186-3A>T)
c.514-3A>T (n.514-3A>T)
8g.43193755A>CCA371119802HGSNATc.1378-2A>C (n.1378-2A>C)
n.311-2A>C
c.529-2A>C (n.529-2A>C)
c.482-2A>C
c.1186-2A>C (n.1186-2A>C)
c.514-2A>C (n.514-2A>C)
8g.43193755A>GCA371119803HGSNATc.1378-2A>G (n.1378-2A>G)
n.311-2A>G
c.529-2A>G (n.529-2A>G)
c.482-2A>G
c.1186-2A>G (n.1186-2A>G)
c.514-2A>G (n.514-2A>G)
 ClinVar dbSNP
8g.43193755A>TCA371119804HGSNATc.1378-2A>T (n.1378-2A>T)
n.311-2A>T
c.529-2A>T (n.529-2A>T)
c.482-2A>T
c.1186-2A>T (n.1186-2A>T)
c.514-2A>T (n.514-2A>T)
8g.43193756G>ACA371119805HGSNATc.1378-1G>A (n.1378-1G>A)
n.311-1G>A
c.529-1G>A (n.529-1G>A)
c.482-1G>A
c.1186-1G>A (n.1186-1G>A)
c.514-1G>A (n.514-1G>A)
 ClinVar dbSNP gnomAD v4
8g.43193756G>CCA371119806HGSNATc.1378-1G>C (n.1378-1G>C)
n.311-1G>C
c.529-1G>C (n.529-1G>C)
c.482-1G>C
c.1186-1G>C (n.1186-1G>C)
c.514-1G>C (n.514-1G>C)
8g.43193756G=CA1779760560HGSNATc.1378-1G= (n.1378-1G=)
n.311-1G=
c.529-1G= (n.529-1G=)
c.482-1G=
c.1186-1G= (n.1186-1G=)
c.514-1G= (n.514-1G=)
8g.43193756G>TCA371119807HGSNATc.1378-1G>T (n.1378-1G>T)
n.311-1G>T
c.529-1G>T (n.529-1G>T)
c.482-1G>T
c.1186-1G>T (n.1186-1G>T)
c.514-1G>T (n.514-1G>T)
8g.43193757G>ACA371119808HGSNATc.1378G>A (p.Val460Ile)
n.311G>A
c.529G>A (p.Val177Ile)
c.482G>A
c.1186G>A (p.Val396Ile)
c.514G>A (p.Val172Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.43193757G>CCA371119809HGSNATc.1378G>C (p.Val460Leu)
n.311G>C
c.529G>C (p.Val177Leu)
c.482G>C
c.1186G>C (p.Val396Leu)
c.514G>C (p.Val172Leu)
 dbSNP
8g.43193757G=CA1779760561HGSNATc.1378G= (p.Val460=)
n.311G=
c.529G= (p.Val177=)
c.482G=
c.1186G= (p.Val396=)
c.514G= (p.Val172=)
8g.43193757G>TCA371119810HGSNATc.1378G>T (p.Val460Leu)
n.311G>T
c.529G>T (p.Val177Leu)
c.482G>T
c.1186G>T (p.Val396Leu)
c.514G>T (p.Val172Leu)
 gnomAD v4
8g.43193758T>ACA371119813HGSNATc.1379T>A (p.Val460Glu)
n.312T>A
c.530T>A (p.Val177Glu)
c.483T>A
c.1187T>A (p.Val396Glu)
c.515T>A (p.Val172Glu)
8g.43193758T>CCA371119812HGSNATc.1379T>C (p.Val460Ala)
n.312T>C
c.530T>C (p.Val177Ala)
c.483T>C
c.1187T>C (p.Val396Ala)
c.515T>C (p.Val172Ala)
8g.43193758T>GCA371119811HGSNATc.1379T>G (p.Val460Gly)
n.312T>G
c.530T>G (p.Val177Gly)
c.483T>G
c.1187T>G (p.Val396Gly)
c.515T>G (p.Val172Gly)
8g.43193759A=CA1779760562HGSNATc.1380A= (p.Val460=)
n.313A=
c.531A= (p.Val177=)
c.484A=
c.1188A= (p.Val396=)
c.516A= (p.Val172=)
8g.43193759A>CCA460579046HGSNATc.1380A>C (p.Val460=)
n.313A>C
c.531A>C (p.Val177=)
c.484A>C
c.1188A>C (p.Val396=)
c.516A>C (p.Val172=)
8g.43193759A>GCA460579048HGSNATc.1380A>G (p.Val460=)
n.313A>G
c.531A>G (p.Val177=)
c.484A>G
c.1188A>G (p.Val396=)
c.516A>G (p.Val172=)
 dbSNP gnomAD v4
8g.43193759A>TCA4736866HGSNATc.1380A>T (p.Val460=)
n.313A>T
c.531A>T (p.Val177=)
c.484A>T
c.1188A>T (p.Val396=)
c.516A>T (p.Val172=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43193760C>ACA371119814HGSNATc.1381C>A (p.Leu461Ile)
n.314C>A
c.532C>A (p.Leu178Ile)
c.485C>A
c.1189C>A (p.Leu397Ile)
c.517C>A (p.Leu173Ile)
8g.43193760C>GCA371119815HGSNATc.1381C>G (p.Leu461Val)
n.314C>G
c.532C>G (p.Leu178Val)
c.485C>G
c.1189C>G (p.Leu397Val)
c.517C>G (p.Leu173Val)
8g.43193760C>TCA371119816HGSNATc.1381C>T (p.Leu461Phe)
n.314C>T
c.532C>T (p.Leu178Phe)
c.485C>T
c.1189C>T (p.Leu397Phe)
c.517C>T (p.Leu173Phe)
8g.43193760_43193761delinsCTCA1779760563HGSNATc.1381_1382delinsCT (p.Leu461=)
n.314_315delinsCT
c.532_533delinsCT (p.Leu178=)
c.485_486delinsCT
c.1189_1190delinsCT (p.Leu397=)
c.517_518delinsCT (p.Leu173=)
8g.43193761T>ACA371119817HGSNATc.1382T>A (p.Leu461His)
n.315T>A
c.533T>A (p.Leu178His)
c.486T>A
c.1190T>A (p.Leu397His)
c.518T>A (p.Leu173His)
8g.43193761T>CCA371119818HGSNATc.1382T>C (p.Leu461Pro)
n.315T>C
c.533T>C (p.Leu178Pro)
c.486T>C
c.1190T>C (p.Leu397Pro)
c.518T>C (p.Leu173Pro)
 COSMIC COSMIC
8g.43193761T>GCA371119819HGSNATc.1382T>G (p.Leu461Arg)
n.315T>G
c.533T>G (p.Leu178Arg)
c.486T>G
c.1190T>G (p.Leu397Arg)
c.518T>G (p.Leu173Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.43193761T=CA1779760564HGSNATc.1382T= (p.Leu461=)
n.315T=
c.533T= (p.Leu178=)
c.486T=
c.1190T= (p.Leu397=)
c.518T= (p.Leu173=)
8g.43193763delCA581638268HGSNATc.1384del (p.Tyr462ThrfsTer20)
n.317del
c.535del (p.Tyr179ThrfsTer20)
c.488del
c.1192del (p.Tyr398ThrfsTer20)
c.520del (p.Tyr174ThrfsTer20)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43193762T>ACA460579059HGSNATc.1383T>A (p.Leu461=)
n.316T>A
c.534T>A (p.Leu178=)
c.487T>A
c.1191T>A (p.Leu397=)
c.519T>A (p.Leu173=)
8g.43193762T>CCA460579060HGSNATc.1383T>C (p.Leu461=)
n.316T>C
c.534T>C (p.Leu178=)
c.487T>C
c.1191T>C (p.Leu397=)
c.519T>C (p.Leu173=)
8g.43193762T>GCA460579063HGSNATc.1383T>G (p.Leu461=)
n.316T>G
c.534T>G (p.Leu178=)
c.487T>G
c.1191T>G (p.Leu397=)
c.519T>G (p.Leu173=)
8g.43193762_43193767delinsTTACCACA1779760565HGSNATc.1383_1388delinsTTACCA (p.Leu461=)
n.316_321delinsTTACCA
c.534_539delinsTTACCA (p.Leu178=)
c.487_492delinsTTACCA
c.1191_1196delinsTTACCA (p.Leu397=)
c.519_524delinsTTACCA (p.Leu173=)
8g.43193763T>ACA371119820HGSNATc.1384T>A (p.Tyr462Asn)
n.317T>A
c.535T>A (p.Tyr179Asn)
c.488T>A
c.1192T>A (p.Tyr398Asn)
c.520T>A (p.Tyr174Asn)
8g.43193763T>CCA371119821HGSNATc.1384T>C (p.Tyr462His)
n.317T>C
c.535T>C (p.Tyr179His)
c.488T>C
c.1192T>C (p.Tyr398His)
c.520T>C (p.Tyr174His)
8g.43193763T>GCA371119822HGSNATc.1384T>G (p.Tyr462Asp)
n.317T>G
c.535T>G (p.Tyr179Asp)
c.488T>G
c.1192T>G (p.Tyr398Asp)
c.520T>G (p.Tyr174Asp)
8g.43193763_43193767delCA851970692HGSNATc.1384_1388del (p.Tyr462HisfsTer6)
n.317_321del
c.535_539del (p.Tyr179HisfsTer6)
c.488_492del
c.1192_1196del (p.Tyr398HisfsTer6)
c.520_524del (p.Tyr174HisfsTer6)
 dbSNP
8g.43193764A>CCA371119823HGSNATc.1385A>C (p.Tyr462Ser)
n.318A>C
c.536A>C (p.Tyr179Ser)
c.489A>C
c.1193A>C (p.Tyr398Ser)
c.521A>C (p.Tyr174Ser)
8g.43193764A>GCA371119824HGSNATc.1385A>G (p.Tyr462Cys)
n.318A>G
c.536A>G (p.Tyr179Cys)
c.489A>G
c.1193A>G (p.Tyr398Cys)
c.521A>G (p.Tyr174Cys)
8g.43193764A>TCA371119825HGSNATc.1385A>T (p.Tyr462Phe)
n.318A>T
c.536A>T (p.Tyr179Phe)
c.489A>T
c.1193A>T (p.Tyr398Phe)
c.521A>T (p.Tyr174Phe)
8g.43193764_43193766delinsACCCA1779760566HGSNATc.1385_1387delinsACC (p.Tyr462=)
n.318_320delinsACC
c.536_538delinsACC (p.Tyr179=)
c.489_491delinsACC
c.1193_1195delinsACC (p.Tyr398=)
c.521_523delinsACC (p.Tyr174=)
8g.43193765C>ACA371119827HGSNATc.1386C>A (p.Tyr462Ter)
n.319C>A
c.537C>A (p.Tyr179Ter)
c.490C>A
c.1194C>A (p.Tyr398Ter)
c.522C>A (p.Tyr174Ter)
8g.43193765C=CA1779760567HGSNATc.1386C= (p.Tyr462=)
n.319C=
c.537C= (p.Tyr179=)
c.490C=
c.1194C= (p.Tyr398=)
c.522C= (p.Tyr174=)
8g.43193765C>GCA371119826HGSNATc.1386C>G (p.Tyr462Ter)
n.319C>G
c.537C>G (p.Tyr179Ter)
c.490C>G
c.1194C>G (p.Tyr398Ter)
c.522C>G (p.Tyr174Ter)
 dbSNP
8g.43193765C>TCA460579071HGSNATc.1386C>T (p.Tyr462=)
n.319C>T
c.537C>T (p.Tyr179=)
c.490C>T
c.1194C>T (p.Tyr398=)
c.522C>T (p.Tyr174=)
 COSMIC COSMIC
8g.43193765_43193766delCA581638272HGSNATc.1386_1387del (p.Tyr462Ter)
n.319_320del
c.537_538del (p.Tyr179Ter)
c.490_491del
c.1194_1195del (p.Tyr398Ter)
c.522_523del (p.Tyr174Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43193766C>ACA371119828HGSNATc.1387C>A (p.His463Asn)
n.320C>A
c.538C>A (p.His180Asn)
c.491C>A
c.1195C>A (p.His399Asn)
c.523C>A (p.His175Asn)
8g.43193766C=CA1779760568HGSNATc.1387C= (p.His463=)
n.320C=
c.538C= (p.His180=)
c.491C=
c.1195C= (p.His399=)
c.523C= (p.His175=)
8g.43193766C>GCA371119829HGSNATc.1387C>G (p.His463Asp)
n.320C>G
c.538C>G (p.His180Asp)
c.491C>G
c.1195C>G (p.His399Asp)
c.523C>G (p.His175Asp)
8g.43193766C>TCA4736867HGSNATc.1387C>T (p.His463Tyr)
n.320C>T
c.538C>T (p.His180Tyr)
c.491C>T
c.1195C>T (p.His399Tyr)
c.523C>T (p.His175Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.43193767A>CCA371119830HGSNATc.1388A>C (p.His463Pro)
n.321A>C
c.539A>C (p.His180Pro)
c.492A>C
c.1196A>C (p.His399Pro)
c.524A>C (p.His175Pro)
8g.43193767A>GCA371119831HGSNATc.1388A>G (p.His463Arg)
n.321A>G
c.539A>G (p.His180Arg)
c.492A>G
c.1196A>G (p.His399Arg)
c.524A>G (p.His175Arg)
 gnomAD v4
8g.43193767A>TCA371119832HGSNATc.1388A>T (p.His463Leu)
n.321A>T
c.539A>T (p.His180Leu)
c.492A>T
c.1196A>T (p.His399Leu)
c.524A>T (p.His175Leu)
8g.43193768C>ACA371119833HGSNATc.1389C>A (p.His463Gln)
n.322C>A
c.540C>A (p.His180Gln)
c.493C>A
c.1197C>A (p.His399Gln)
c.525C>A (p.His175Gln)
 dbSNP
8g.43193768C=CA1779760569HGSNATc.1389C= (p.His463=)
n.322C=
c.540C= (p.His180=)
c.493C=
c.1197C= (p.His399=)
c.525C= (p.His175=)
8g.43193768C>GCA371119834HGSNATc.1389C>G (p.His463Gln)
n.322C>G
c.540C>G (p.His180Gln)
c.493C>G
c.1197C>G (p.His399Gln)
c.525C>G (p.His175Gln)
8g.43193768C>TCA460579084HGSNATc.1389C>T (p.His463=)
n.322C>T
c.540C>T (p.His180=)
c.493C>T
c.1197C>T (p.His399=)
c.525C>T (p.His175=)
8g.43193769A>CCA371119835HGSNATc.1390A>C (p.Thr464Pro)
n.323A>C
c.541A>C (p.Thr181Pro)
c.494A>C
c.1198A>C (p.Thr400Pro)
c.526A>C (p.Thr176Pro)
8g.43193769A>GCA371119837HGSNATc.1390A>G (p.Thr464Ala)
n.323A>G
c.541A>G (p.Thr181Ala)
c.494A>G
c.1198A>G (p.Thr400Ala)
c.526A>G (p.Thr176Ala)
8g.43193769A>TCA371119836HGSNATc.1390A>T (p.Thr464Ser)
n.323A>T
c.541A>T (p.Thr181Ser)
c.494A>T
c.1198A>T (p.Thr400Ser)
c.526A>T (p.Thr176Ser)
8g.43193769_43193771delinsACCCA1779760570HGSNATc.1390_1392delinsACC (p.Thr464=)
n.323_325delinsACC
c.541_543delinsACC (p.Thr181=)
c.494_496delinsACC
c.1198_1200delinsACC (p.Thr400=)
c.526_528delinsACC (p.Thr176=)
8g.43193770C>ACA371119838HGSNATc.1391C>A (p.Thr464Asn)
n.324C>A
c.542C>A (p.Thr181Asn)
c.495C>A
c.1199C>A (p.Thr400Asn)
c.527C>A (p.Thr176Asn)
8g.43193770C>GCA371119839HGSNATc.1391C>G (p.Thr464Ser)
n.324C>G
c.542C>G (p.Thr181Ser)
c.495C>G
c.1199C>G (p.Thr400Ser)
c.527C>G (p.Thr176Ser)
8g.43193770C>TCA371119840HGSNATc.1391C>T (p.Thr464Ile)
n.324C>T
c.542C>T (p.Thr181Ile)
c.495C>T
c.1199C>T (p.Thr400Ile)
c.527C>T (p.Thr176Ile)
8g.43193770_43193771delCA581638274HGSNATc.1391_1392del (p.Thr464ArgfsTer5)
n.324_325del
c.542_543del (p.Thr181ArgfsTer5)
c.495_496del
c.1199_1200del (p.Thr400ArgfsTer5)
c.527_528del (p.Thr176ArgfsTer5)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43193771C>ACA460579097HGSNATc.1392C>A (p.Thr464=)
n.325C>A
c.543C>A (p.Thr181=)
c.496C>A
c.1200C>A (p.Thr400=)
c.528C>A (p.Thr176=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
8g.43193771C=CA1779760571HGSNATc.1392C= (p.Thr464=)
n.325C=
c.543C= (p.Thr181=)
c.496C=
c.1200C= (p.Thr400=)
c.528C= (p.Thr176=)
8g.43193771C>GCA460579094HGSNATc.1392C>G (p.Thr464=)
n.325C>G
c.543C>G (p.Thr181=)
c.496C>G
c.1200C>G (p.Thr400=)
c.528C>G (p.Thr176=)
 ClinVar dbSNP gnomAD v4
8g.43193771C>TCA4736868HGSNATc.1392C>T (p.Thr464=)
n.325C>T
c.543C>T (p.Thr181=)
c.496C>T
c.1200C>T (p.Thr400=)
c.528C>T (p.Thr176=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43193772G>ACA4736869HGSNATc.1393G>A (p.Glu465Lys)
n.326G>A
c.544G>A (p.Glu182Lys)
c.497G>A
c.1201G>A (p.Glu401Lys)
c.529G>A (p.Glu177Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.43193772G>CCA371119842HGSNATc.1393G>C (p.Glu465Gln)
n.326G>C
c.544G>C (p.Glu182Gln)
c.497G>C
c.1201G>C (p.Glu401Gln)
c.529G>C (p.Glu177Gln)
8g.43193772G=CA1779760572HGSNATc.1393G= (p.Glu465=)
n.326G=
c.544G= (p.Glu182=)
c.497G=
c.1201G= (p.Glu401=)
c.529G= (p.Glu177=)
8g.43193772G>TCA371119841HGSNATc.1393G>T (p.Glu465Ter)
n.326G>T
c.544G>T (p.Glu182Ter)
c.497G>T
c.1201G>T (p.Glu401Ter)
c.529G>T (p.Glu177Ter)
 gnomAD v4
8g.43193773A>CCA371119843HGSNATc.1394A>C (p.Glu465Ala)
n.327A>C
c.545A>C (p.Glu182Ala)
c.498A>C
c.1202A>C (p.Glu401Ala)
c.530A>C (p.Glu177Ala)
8g.43193773A>GCA371119844HGSNATc.1394A>G (p.Glu465Gly)
n.327A>G
c.545A>G (p.Glu182Gly)
c.498A>G
c.1202A>G (p.Glu401Gly)
c.530A>G (p.Glu177Gly)
8g.43193773A>TCA371119845HGSNATc.1394A>T (p.Glu465Val)
n.327A>T
c.545A>T (p.Glu182Val)
c.498A>T
c.1202A>T (p.Glu401Val)
c.530A>T (p.Glu177Val)
8g.43193774G>ACA460579106HGSNATc.1395G>A (p.Glu465=)
n.328G>A
c.546G>A (p.Glu182=)
c.499G>A
c.1203G>A (p.Glu401=)
c.531G>A (p.Glu177=)
8g.43193774G>CCA371119846HGSNATc.1395G>C (p.Glu465Asp)
n.328G>C
c.546G>C (p.Glu182Asp)
c.499G>C
c.1203G>C (p.Glu401Asp)
c.531G>C (p.Glu177Asp)
8g.43193774G>TCA371119847HGSNATc.1395G>T (p.Glu465Asp)
n.328G>T
c.546G>T (p.Glu182Asp)
c.499G>T
c.1203G>T (p.Glu401Asp)
c.531G>T (p.Glu177Asp)
8g.43193775G>ACA371119848HGSNATc.1396G>A (p.Val466Met)
n.329G>A
c.547G>A (p.Val183Met)
c.500G>A
c.1204G>A (p.Val402Met)
c.532G>A (p.Val178Met)
 ClinVar dbSNP
8g.43193775G>CCA371119849HGSNATc.1396G>C (p.Val466Leu)
n.329G>C
c.547G>C (p.Val183Leu)
c.500G>C
c.1204G>C (p.Val402Leu)
c.532G>C (p.Val178Leu)
 gnomAD v4
8g.43193775G=CA1779760573HGSNATc.1396G= (p.Val466=)
n.329G=
c.547G= (p.Val183=)
c.500G=
c.1204G= (p.Val402=)
c.532G= (p.Val178=)
8g.43193775G>TCA371119850HGSNATc.1396G>T (p.Val466Leu)
n.329G>T
c.547G>T (p.Val183Leu)
c.500G>T
c.1204G>T (p.Val402Leu)
c.532G>T (p.Val178Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.43193776T>ACA371119851HGSNATc.1397T>A (p.Val466Glu)
n.330T>A
c.548T>A (p.Val183Glu)
c.501T>A
c.1205T>A (p.Val402Glu)
c.533T>A (p.Val178Glu)
8g.43193776T>CCA371119852HGSNATc.1397T>C (p.Val466Ala)
n.330T>C
c.548T>C (p.Val183Ala)
c.501T>C
c.1205T>C (p.Val402Ala)
c.533T>C (p.Val178Ala)
8g.43193776T>GCA371119853HGSNATc.1397T>G (p.Val466Gly)
n.330T>G
c.548T>G (p.Val183Gly)
c.501T>G
c.1205T>G (p.Val402Gly)
c.533T>G (p.Val178Gly)
8g.43193777G>ACA460579120HGSNATc.1398G>A (p.Val466=)
n.331G>A
c.549G>A (p.Val183=)
c.502G>A
c.1206G>A (p.Val402=)
c.534G>A (p.Val178=)
 dbSNP gnomAD v2
8g.43193777G>CCA460579117HGSNATc.1398G>C (p.Val466=)
n.331G>C
c.549G>C (p.Val183=)
c.502G>C
c.1206G>C (p.Val402=)
c.534G>C (p.Val178=)
8g.43193777G=CA1779760574HGSNATc.1398G= (p.Val466=)
n.331G=
c.549G= (p.Val183=)
c.502G=
c.1206G= (p.Val402=)
c.534G= (p.Val178=)
8g.43193777G>TCA460579119HGSNATc.1398G>T (p.Val466=)
n.331G>T
c.549G>T (p.Val183=)
c.502G>T
c.1206G>T (p.Val402=)
c.534G>T (p.Val178=)
8g.43193778G>ACA371119856HGSNATc.1399G>A (p.Ala467Thr)
n.332G>A
c.550G>A (p.Ala184Thr)
c.503G>A
c.1207G>A (p.Ala403Thr)
c.535G>A (p.Ala179Thr)
8g.43193778G>CCA371119854HGSNATc.1399G>C (p.Ala467Pro)
n.332G>C
c.550G>C (p.Ala184Pro)
c.503G>C
c.1207G>C (p.Ala403Pro)
c.535G>C (p.Ala179Pro)
8g.43193778G>TCA371119855HGSNATc.1399G>T (p.Ala467Ser)
n.332G>T
c.550G>T (p.Ala184Ser)
c.503G>T
c.1207G>T (p.Ala403Ser)
c.535G>T (p.Ala179Ser)
8g.43193779C>ACA371119857HGSNATc.1400C>A (p.Ala467Asp)
n.333C>A
c.551C>A (p.Ala184Asp)
c.504C>A
c.1208C>A (p.Ala403Asp)
c.536C>A (p.Ala179Asp)
8g.43193779C=CA1779760575HGSNATc.1400C= (p.Ala467=)
n.333C=
c.551C= (p.Ala184=)
c.504C=
c.1208C= (p.Ala403=)
c.536C= (p.Ala179=)
8g.43193779C>GCA371119859HGSNATc.1400C>G (p.Ala467Gly)
n.333C>G
c.551C>G (p.Ala184Gly)
c.504C>G
c.1208C>G (p.Ala403Gly)
c.536C>G (p.Ala179Gly)
8g.43193779C>TCA371119858HGSNATc.1400C>T (p.Ala467Val)
n.333C>T
c.551C>T (p.Ala184Val)
c.504C>T
c.1208C>T (p.Ala403Val)
c.536C>T (p.Ala179Val)
 dbSNP
8g.43193780delCA2740095032HGSNATc.1401del (p.Tyr468MetfsTer14)
n.334del
c.552del (p.Tyr185MetfsTer14)
c.505del
c.1209del (p.Tyr404MetfsTer14)
c.537del (p.Tyr180MetfsTer14)
 ClinVar
8g.43193780C>ACA460579121HGSNATc.1401C>A (p.Ala467=)
n.334C>A
c.552C>A (p.Ala184=)
c.505C>A
c.1209C>A (p.Ala403=)
c.537C>A (p.Ala179=)
8g.43193780C=CA1779760576HGSNATc.1401C= (p.Ala467=)
n.334C=
c.552C= (p.Ala184=)
c.505C=
c.1209C= (p.Ala403=)
c.537C= (p.Ala179=)
8g.43193780C>GCA460579122HGSNATc.1401C>G (p.Ala467=)
n.334C>G
c.552C>G (p.Ala184=)
c.505C>G
c.1209C>G (p.Ala403=)
c.537C>G (p.Ala179=)
 ClinVar
8g.43193780C>TCA460579123HGSNATc.1401C>T (p.Ala467=)
n.334C>T
c.552C>T (p.Ala184=)
c.505C>T
c.1209C>T (p.Ala403=)
c.537C>T (p.Ala179=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.43193781T>ACA371119860HGSNATc.1402T>A (p.Tyr468Asn)
n.335T>A
c.553T>A (p.Tyr185Asn)
c.506T>A
c.1210T>A (p.Tyr404Asn)
c.538T>A (p.Tyr180Asn)
8g.43193781T>CCA371119862HGSNATc.1402T>C (p.Tyr468His)
n.335T>C
c.553T>C (p.Tyr185His)
c.506T>C
c.1210T>C (p.Tyr404His)
c.538T>C (p.Tyr180His)
8g.43193781T>GCA371119861HGSNATc.1402T>G (p.Tyr468Asp)
n.335T>G
c.553T>G (p.Tyr185Asp)
c.506T>G
c.1210T>G (p.Tyr404Asp)
c.538T>G (p.Tyr180Asp)
8g.43193782A=CA1779760577HGSNATc.1403A= (p.Tyr468=)
n.336A=
c.554A= (p.Tyr185=)
c.507A=
c.1211A= (p.Tyr404=)
c.539A= (p.Tyr180=)
8g.43193782A>CCA371119863HGSNATc.1403A>C (p.Tyr468Ser)
n.336A>C
c.554A>C (p.Tyr185Ser)
c.507A>C
c.1211A>C (p.Tyr404Ser)
c.539A>C (p.Tyr180Ser)
8g.43193782A>GCA4736870HGSNATc.1403A>G (p.Tyr468Cys)
n.336A>G
c.554A>G (p.Tyr185Cys)
c.507A>G
c.1211A>G (p.Tyr404Cys)
c.539A>G (p.Tyr180Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43193782A>TCA371119864HGSNATc.1403A>T (p.Tyr468Phe)
n.336A>T
c.554A>T (p.Tyr185Phe)
c.507A>T
c.1211A>T (p.Tyr404Phe)
c.539A>T (p.Tyr180Phe)
 dbSNP
8g.43193783T>ACA371119865HGSNATc.1404T>A (p.Tyr468Ter)
n.337T>A
c.555T>A (p.Tyr185Ter)
c.508T>A
c.1212T>A (p.Tyr404Ter)
c.540T>A (p.Tyr180Ter)
8g.43193783T>CCA460579124HGSNATc.1404T>C (p.Tyr468=)
n.337T>C
c.555T>C (p.Tyr185=)
c.508T>C
c.1212T>C (p.Tyr404=)
c.540T>C (p.Tyr180=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.43193783T>GCA371119866HGSNATc.1404T>G (p.Tyr468Ter)
n.337T>G
c.555T>G (p.Tyr185Ter)
c.508T>G
c.1212T>G (p.Tyr404Ter)
c.540T>G (p.Tyr180Ter)
8g.43193783T=CA1779760578HGSNATc.1404T= (p.Tyr468=)
n.337T=
c.555T= (p.Tyr185=)
c.508T=
c.1212T= (p.Tyr404=)
c.540T= (p.Tyr180=)
8g.43193784G>ACA371119867HGSNATc.1405G>A (p.Asp469Asn)
n.338G>A
c.556G>A (p.Asp186Asn)
c.509G>A
c.1213G>A (p.Asp405Asn)
c.541G>A (p.Asp181Asn)
8g.43193784G>CCA371119868HGSNATc.1405G>C (p.Asp469His)
n.338G>C
c.556G>C (p.Asp186His)
c.509G>C
c.1213G>C (p.Asp405His)
c.541G>C (p.Asp181His)
8g.43193784G>TCA371119869HGSNATc.1405G>T (p.Asp469Tyr)
n.338G>T
c.556G>T (p.Asp186Tyr)
c.509G>T
c.1213G>T (p.Asp405Tyr)
c.541G>T (p.Asp181Tyr)
8g.43193785A>CCA371119870HGSNATc.1406A>C (p.Asp469Ala)
n.339A>C
c.557A>C (p.Asp186Ala)
c.510A>C
c.1214A>C (p.Asp405Ala)
c.542A>C (p.Asp181Ala)
8g.43193785A>GCA371119871HGSNATc.1406A>G (p.Asp469Gly)
n.339A>G
c.557A>G (p.Asp186Gly)
c.510A>G
c.1214A>G (p.Asp405Gly)
c.542A>G (p.Asp181Gly)
8g.43193785A>TCA371119872HGSNATc.1406A>T (p.Asp469Val)
n.339A>T
c.557A>T (p.Asp186Val)
c.510A>T
c.1214A>T (p.Asp405Val)
c.542A>T (p.Asp181Val)
8g.43193786C>ACA371119873HGSNATc.1407C>A (p.Asp469Glu)
n.340C>A
c.558C>A (p.Asp186Glu)
c.511C>A
c.1215C>A (p.Asp405Glu)
c.543C>A (p.Asp181Glu)
 gnomAD v4
8g.43193786C=CA1779760579HGSNATc.1407C= (p.Asp469=)
n.340C=
c.558C= (p.Asp186=)
c.511C=
c.1215C= (p.Asp405=)
c.543C= (p.Asp181=)
8g.43193786C>GCA371119874HGSNATc.1407C>G (p.Asp469Glu)
n.340C>G
c.558C>G (p.Asp186Glu)
c.511C>G
c.1215C>G (p.Asp405Glu)
c.543C>G (p.Asp181Glu)
8g.43193786C>TCA460579125HGSNATc.1407C>T (p.Asp469=)
n.340C>T
c.558C>T (p.Asp186=)
c.511C>T
c.1215C>T (p.Asp405=)
c.543C>T (p.Asp181=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43193787C>ACA371119875HGSNATc.1408C>A (p.Pro470Thr)
n.341C>A
c.559C>A (p.Pro187Thr)
c.512C>A
c.1216C>A (p.Pro406Thr)
c.544C>A (p.Pro182Thr)
8g.43193787C>GCA371119877HGSNATc.1408C>G (p.Pro470Ala)
n.341C>G
c.559C>G (p.Pro187Ala)
c.512C>G
c.1216C>G (p.Pro406Ala)
c.544C>G (p.Pro182Ala)
8g.43193787C>TCA371119876HGSNATc.1408C>T (p.Pro470Ser)
n.341C>T
c.559C>T (p.Pro187Ser)
c.512C>T
c.1216C>T (p.Pro406Ser)
c.544C>T (p.Pro182Ser)
8g.43193788C>ACA371119878HGSNATc.1409C>A (p.Pro470His)
n.342C>A
c.560C>A (p.Pro187His)
c.513C>A
c.1217C>A (p.Pro406His)
c.545C>A (p.Pro182His)
8g.43193788C>GCA371119879HGSNATc.1409C>G (p.Pro470Arg)
n.342C>G
c.560C>G (p.Pro187Arg)
c.513C>G
c.1217C>G (p.Pro406Arg)
c.545C>G (p.Pro182Arg)
8g.43193788C>TCA371119880HGSNATc.1409C>T (p.Pro470Leu)
n.342C>T
c.560C>T (p.Pro187Leu)
c.513C>T
c.1217C>T (p.Pro406Leu)
c.545C>T (p.Pro182Leu)
8g.43193789C>ACA460579184HGSNATc.1410C>A (p.Pro470=)
n.343C>A
c.561C>A (p.Pro187=)
c.514C>A
c.1218C>A (p.Pro406=)
c.546C>A (p.Pro182=)
8g.43193789C=CA1779760580HGSNATc.1410C= (p.Pro470=)
n.343C=
c.561C= (p.Pro187=)
c.514C=
c.1218C= (p.Pro406=)
c.546C= (p.Pro182=)
8g.43193789C>GCA460579186HGSNATc.1410C>G (p.Pro470=)
n.343C>G
c.561C>G (p.Pro187=)
c.514C>G
c.1218C>G (p.Pro406=)
c.546C>G (p.Pro182=)
8g.43193789C>TCA4736871HGSNATc.1410C>T (p.Pro470=)
n.343C>T
c.561C>T (p.Pro187=)
c.514C>T
c.1218C>T (p.Pro406=)
c.546C>T (p.Pro182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43193790G>ACA4736872HGSNATc.1411G>A (p.Glu471Lys)
n.344G>A
c.562G>A (p.Glu188Lys)
c.515G>A
c.1219G>A (p.Glu407Lys)
c.547G>A (p.Glu183Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43193790G>CCA371119881HGSNATc.1411G>C (p.Glu471Gln)
n.344G>C
c.562G>C (p.Glu188Gln)
c.515G>C
c.1219G>C (p.Glu407Gln)
c.547G>C (p.Glu183Gln)
 ClinVar dbSNP
8g.43193790G=CA1779760581HGSNATc.1411G= (p.Glu471=)
n.344G=
c.562G= (p.Glu188=)
c.515G=
c.1219G= (p.Glu407=)
c.547G= (p.Glu183=)
8g.43193790G>TCA371119882HGSNATc.1411G>T (p.Glu471Ter)
n.344G>T
c.562G>T (p.Glu188Ter)
c.515G>T
c.1219G>T (p.Glu407Ter)
c.547G>T (p.Glu183Ter)
 ClinVar dbSNP
8g.43193791A>CCA371119883HGSNATc.1412A>C (p.Glu471Ala)
n.345A>C
c.563A>C (p.Glu188Ala)
c.516A>C
c.1220A>C (p.Glu407Ala)
c.548A>C (p.Glu183Ala)
8g.43193791A>GCA371119884HGSNATc.1412A>G (p.Glu471Gly)
n.345A>G
c.563A>G (p.Glu188Gly)
c.516A>G
c.1220A>G (p.Glu407Gly)
c.548A>G (p.Glu183Gly)
8g.43193791A>TCA371119885HGSNATc.1412A>T (p.Glu471Val)
n.345A>T
c.563A>T (p.Glu188Val)
c.516A>T
c.1220A>T (p.Glu407Val)
c.548A>T (p.Glu183Val)
8g.43193792G>ACA460579196HGSNATc.1413G>A (p.Glu471=)
n.346G>A
c.564G>A (p.Glu188=)
c.517G>A
c.1221G>A (p.Glu407=)
c.549G>A (p.Glu183=)
8g.43193792G>CCA371119886HGSNATc.1413G>C (p.Glu471Asp)
n.346G>C
c.564G>C (p.Glu188Asp)
c.517G>C
c.1221G>C (p.Glu407Asp)
c.549G>C (p.Glu183Asp)
8g.43193792G=CA1779760582HGSNATc.1413G= (p.Glu471=)
n.346G=
c.564G= (p.Glu188=)
c.517G=
c.1221G= (p.Glu407=)
c.549G= (p.Glu183=)
8g.43193792G>TCA371119887HGSNATc.1413G>T (p.Glu471Asp)
n.346G>T
c.564G>T (p.Glu188Asp)
c.517G>T
c.1221G>T (p.Glu407Asp)
c.549G>T (p.Glu183Asp)
 dbSNP
8g.43193793G>ACA371119888HGSNATc.1414G>A (p.Gly472Ser)
n.347G>A
c.565G>A (p.Gly189Ser)
c.518G>A
c.1222G>A (p.Gly408Ser)
c.550G>A (p.Gly184Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43193793G>CCA371119889HGSNATc.1414G>C (p.Gly472Arg)
n.347G>C
c.565G>C (p.Gly189Arg)
c.518G>C
c.1222G>C (p.Gly408Arg)
c.550G>C (p.Gly184Arg)
8g.43193793G=CA1779760583HGSNATc.1414G= (p.Gly472=)
n.347G=
c.565G= (p.Gly189=)
c.518G=
c.1222G= (p.Gly408=)
c.550G= (p.Gly184=)
8g.43193793G>TCA371119890HGSNATc.1414G>T (p.Gly472Cys)
n.347G>T
c.565G>T (p.Gly189Cys)
c.518G>T
c.1222G>T (p.Gly408Cys)
c.550G>T (p.Gly184Cys)
8g.43193794G>ACA371119891HGSNATc.1415G>A (p.Gly472Asp)
n.348G>A
c.566G>A (p.Gly189Asp)
c.519G>A
c.1223G>A (p.Gly408Asp)
c.551G>A (p.Gly184Asp)
 dbSNP COSMIC COSMIC
8g.43193794G>CCA371119892HGSNATc.1415G>C (p.Gly472Ala)
n.348G>C
c.566G>C (p.Gly189Ala)
c.519G>C
c.1223G>C (p.Gly408Ala)
c.551G>C (p.Gly184Ala)
8g.43193794G=CA1779760584HGSNATc.1415G= (p.Gly472=)
n.348G=
c.566G= (p.Gly189=)
c.519G=
c.1223G= (p.Gly408=)
c.551G= (p.Gly184=)
8g.43193794G>TCA371119893HGSNATc.1415G>T (p.Gly472Val)
n.348G>T
c.566G>T (p.Gly189Val)
c.519G>T
c.1223G>T (p.Gly408Val)
c.551G>T (p.Gly184Val)
 gnomAD v4
8g.43193795C>ACA460579206HGSNATc.1416C>A (p.Gly472=)
n.349C>A
c.567C>A (p.Gly189=)
c.520C>A
c.1224C>A (p.Gly408=)
c.552C>A (p.Gly184=)
 gnomAD v4
8g.43193795C=CA1779760585HGSNATc.1416C= (p.Gly472=)
n.349C=
c.567C= (p.Gly189=)
c.520C=
c.1224C= (p.Gly408=)
c.552C= (p.Gly184=)
8g.43193795C>GCA460579207HGSNATc.1416C>G (p.Gly472=)
n.349C>G
c.567C>G (p.Gly189=)
c.520C>G
c.1224C>G (p.Gly408=)
c.552C>G (p.Gly184=)
8g.43193795C>TCA460579208HGSNATc.1416C>T (p.Gly472=)
n.349C>T
c.567C>T (p.Gly189=)
c.520C>T
c.1224C>T (p.Gly408=)
c.552C>T (p.Gly184=)
 ClinVar dbSNP gnomAD v4
8g.43193796A>CCA371119894HGSNATc.1417A>C (p.Ile473Leu)
n.350A>C
c.568A>C (p.Ile190Leu)
c.521A>C
c.1225A>C (p.Ile409Leu)
c.553A>C (p.Ile185Leu)
8g.43193796A>GCA371119895HGSNATc.1417A>G (p.Ile473Val)
n.350A>G
c.568A>G (p.Ile190Val)
c.521A>G
c.1225A>G (p.Ile409Val)
c.553A>G (p.Ile185Val)
8g.43193796A>TCA371119896HGSNATc.1417A>T (p.Ile473Phe)
n.350A>T
c.568A>T (p.Ile190Phe)
c.521A>T
c.1225A>T (p.Ile409Phe)
c.553A>T (p.Ile185Phe)
8g.43193797T>ACA371119897HGSNATc.1418T>A (p.Ile473Asn)
n.351T>A
c.569T>A (p.Ile190Asn)
c.522T>A
c.1226T>A (p.Ile409Asn)
c.554T>A (p.Ile185Asn)
8g.43193797T>CCA371119898HGSNATc.1418T>C (p.Ile473Thr)
n.351T>C
c.569T>C (p.Ile190Thr)
c.522T>C
c.1226T>C (p.Ile409Thr)
c.554T>C (p.Ile185Thr)
8g.43193797T>GCA371119899HGSNATc.1418T>G (p.Ile473Ser)
n.351T>G
c.569T>G (p.Ile190Ser)
c.522T>G
c.1226T>G (p.Ile409Ser)
c.554T>G (p.Ile185Ser)
8g.43193798C>ACA460579216HGSNATc.1419C>A (p.Ile473=)
n.352C>A
c.570C>A (p.Ile190=)
c.523C>A
c.1227C>A (p.Ile409=)
c.555C>A (p.Ile185=)
8g.43193798C>GCA371119900HGSNATc.1419C>G (p.Ile473Met)
n.352C>G
c.570C>G (p.Ile190Met)
c.523C>G
c.1227C>G (p.Ile409Met)
c.555C>G (p.Ile185Met)
8g.43193798C>TCA460579219HGSNATc.1419C>T (p.Ile473=)
n.352C>T
c.570C>T (p.Ile190=)
c.523C>T
c.1227C>T (p.Ile409=)
c.555C>T (p.Ile185=)
 ClinVar gnomAD v4
8g.43193799C>ACA371119901HGSNATc.1420C>A (p.Leu474Met)
n.353C>A
c.571C>A (p.Leu191Met)
c.524C>A
c.1228C>A (p.Leu410Met)
c.556C>A (p.Leu186Met)
 COSMIC COSMIC
8g.43193799C=CA1779760586HGSNATc.1420C= (p.Leu474=)
n.353C=
c.571C= (p.Leu191=)
c.524C=
c.1228C= (p.Leu410=)
c.556C= (p.Leu186=)
8g.43193799C>GCA371119902HGSNATc.1420C>G (p.Leu474Val)
n.353C>G
c.571C>G (p.Leu191Val)
c.524C>G
c.1228C>G (p.Leu410Val)
c.556C>G (p.Leu186Val)
 ClinVar dbSNP gnomAD v4
8g.43193799C>TCA460579224HGSNATc.1420C>T (p.Leu474=)
n.353C>T
c.571C>T (p.Leu191=)
c.524C>T
c.1228C>T (p.Leu410=)
c.556C>T (p.Leu186=)
 dbSNP
8g.43193800T>ACA371119903HGSNATc.1421T>A (p.Leu474Gln)
n.354T>A
c.572T>A (p.Leu191Gln)
c.525T>A
c.1229T>A (p.Leu410Gln)
c.557T>A (p.Leu186Gln)
8g.43193800T>CCA371119904HGSNATc.1421T>C (p.Leu474Pro)
n.354T>C
c.572T>C (p.Leu191Pro)
c.525T>C
c.1229T>C (p.Leu410Pro)
c.557T>C (p.Leu186Pro)
8g.43193800T>GCA371119905HGSNATc.1421T>G (p.Leu474Arg)
n.354T>G
c.572T>G (p.Leu191Arg)
c.525T>G
c.1229T>G (p.Leu410Arg)
c.557T>G (p.Leu186Arg)
 gnomAD v4
8g.43193801G>ACA460579230HGSNATc.1422G>A (p.Leu474=)
n.355G>A
c.573G>A (p.Leu191=)
c.526G>A
c.1230G>A (p.Leu410=)
c.558G>A (p.Leu186=)
8g.43193801G>CCA460579233HGSNATc.1422G>C (p.Leu474=)
n.355G>C
c.573G>C (p.Leu191=)
c.526G>C
c.1230G>C (p.Leu410=)
c.558G>C (p.Leu186=)
8g.43193801G>TCA460579235HGSNATc.1422G>T (p.Leu474=)
n.355G>T
c.573G>T (p.Leu191=)
c.526G>T
c.1230G>T (p.Leu410=)
c.558G>T (p.Leu186=)
8g.43193802G>ACA371119906HGSNATc.1423G>A (p.Gly475Ser)
n.356G>A
c.574G>A (p.Gly192Ser)
c.527G>A
c.1231G>A (p.Gly411Ser)
c.559G>A (p.Gly187Ser)
8g.43193802G>CCA371119907HGSNATc.1423G>C (p.Gly475Arg)
n.356G>C
c.574G>C (p.Gly192Arg)
c.527G>C
c.1231G>C (p.Gly411Arg)
c.559G>C (p.Gly187Arg)
 COSMIC COSMIC
8g.43193802G>TCA371119908HGSNATc.1423G>T (p.Gly475Cys)
n.356G>T
c.574G>T (p.Gly192Cys)
c.527G>T
c.1231G>T (p.Gly411Cys)
c.559G>T (p.Gly187Cys)
8g.43193803G>ACA371119909HGSNATc.1424G>A (p.Gly475Asp)
n.357G>A
c.575G>A (p.Gly192Asp)
c.528G>A
c.1232G>A (p.Gly411Asp)
c.560G>A (p.Gly187Asp)
8g.43193803G>CCA371119910HGSNATc.1424G>C (p.Gly475Ala)
n.357G>C
c.575G>C (p.Gly192Ala)
c.528G>C
c.1232G>C (p.Gly411Ala)
c.560G>C (p.Gly187Ala)
8g.43193803G>TCA371119911HGSNATc.1424G>T (p.Gly475Val)
n.357G>T
c.575G>T (p.Gly192Val)
c.528G>T
c.1232G>T (p.Gly411Val)
c.560G>T (p.Gly187Val)
8g.43193804C>ACA460579244HGSNATc.1425C>A (p.Gly475=)
n.358C>A
c.576C>A (p.Gly192=)
c.529C>A
c.1233C>A (p.Gly411=)
c.561C>A (p.Gly187=)
8g.43193804C>GCA460579246HGSNATc.1425C>G (p.Gly475=)
n.358C>G
c.576C>G (p.Gly192=)
c.529C>G
c.1233C>G (p.Gly411=)
c.561C>G (p.Gly187=)
8g.43193804C>TCA460579248HGSNATc.1425C>T (p.Gly475=)
n.358C>T
c.576C>T (p.Gly192=)
c.529C>T
c.1233C>T (p.Gly411=)
c.561C>T (p.Gly187=)
 COSMIC COSMIC
8g.43193805A=CA1779760587HGSNATc.1426A= (p.Thr476=)
n.359A=
c.577A= (p.Thr193=)
c.530A=
c.1234A= (p.Thr412=)
c.562A= (p.Thr188=)
8g.43193805A>CCA371119912HGSNATc.1426A>C (p.Thr476Pro)
n.359A>C
c.577A>C (p.Thr193Pro)
c.530A>C
c.1234A>C (p.Thr412Pro)
c.562A>C (p.Thr188Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.43193805A>GCA371119913HGSNATc.1426A>G (p.Thr476Ala)
n.359A>G
c.577A>G (p.Thr193Ala)
c.530A>G
c.1234A>G (p.Thr412Ala)
c.562A>G (p.Thr188Ala)
8g.43193805A>TCA371119914HGSNATc.1426A>T (p.Thr476Ser)
n.359A>T
c.577A>T (p.Thr193Ser)
c.530A>T
c.1234A>T (p.Thr412Ser)
c.562A>T (p.Thr188Ser)
8g.43193806C>ACA371119917HGSNATc.1427C>A (p.Thr476Asn)
n.360C>A
c.578C>A (p.Thr193Asn)
c.531C>A
c.1235C>A (p.Thr412Asn)
c.563C>A (p.Thr188Asn)
8g.43193806C>GCA371119916HGSNATc.1427C>G (p.Thr476Ser)
n.360C>G
c.578C>G (p.Thr193Ser)
c.531C>G
c.1235C>G (p.Thr412Ser)
c.563C>G (p.Thr188Ser)
8g.43193806C>TCA371119915HGSNATc.1427C>T (p.Thr476Ile)
n.360C>T
c.578C>T (p.Thr193Ile)
c.531C>T
c.1235C>T (p.Thr412Ile)
c.563C>T (p.Thr188Ile)
8g.43193807C>ACA460579254HGSNATc.1428C>A (p.Thr476=)
n.361C>A
c.579C>A (p.Thr193=)
c.532C>A
c.1236C>A (p.Thr412=)
c.564C>A (p.Thr188=)
8g.43193807C>GCA460579257HGSNATc.1428C>G (p.Thr476=)
n.361C>G
c.579C>G (p.Thr193=)
c.532C>G
c.1236C>G (p.Thr412=)
c.564C>G (p.Thr188=)
8g.43193807C>TCA460579259HGSNATc.1428C>T (p.Thr476=)
n.361C>T
c.579C>T (p.Thr193=)
c.532C>T
c.1236C>T (p.Thr412=)
c.564C>T (p.Thr188=)
8g.43193808A=CA1779760588HGSNATc.1429A= (p.Ile477=)
n.362A=
c.580A= (p.Ile194=)
c.533A=
c.1237A= (p.Ile413=)
c.565A= (p.Ile189=)
8g.43193808A>CCA371119919HGSNATc.1429A>C (p.Ile477Leu)
n.362A>C
c.580A>C (p.Ile194Leu)
c.533A>C
c.1237A>C (p.Ile413Leu)
c.565A>C (p.Ile189Leu)
8g.43193808A>GCA371119918HGSNATc.1429A>G (p.Ile477Val)
n.362A>G
c.580A>G (p.Ile194Val)
c.533A>G
c.1237A>G (p.Ile413Val)
c.565A>G (p.Ile189Val)
 dbSNP gnomAD v4
8g.43193808A>TCA371119920HGSNATc.1429A>T (p.Ile477Phe)
n.362A>T
c.580A>T (p.Ile194Phe)
c.533A>T
c.1237A>T (p.Ile413Phe)
c.565A>T (p.Ile189Phe)
8g.43193809T>ACA371119921HGSNATc.1430T>A (p.Ile477Asn)
n.363T>A
c.581T>A (p.Ile194Asn)
c.534T>A
c.1238T>A (p.Ile413Asn)
c.566T>A (p.Ile189Asn)
8g.43193809T>CCA371119922HGSNATc.1430T>C (p.Ile477Thr)
n.363T>C
c.581T>C (p.Ile194Thr)
c.534T>C
c.1238T>C (p.Ile413Thr)
c.566T>C (p.Ile189Thr)
8g.43193809T>GCA371119923HGSNATc.1430T>G (p.Ile477Ser)
n.363T>G
c.581T>G (p.Ile194Ser)
c.534T>G
c.1238T>G (p.Ile413Ser)
c.566T>G (p.Ile189Ser)
8g.43193810C>ACA460579263HGSNATc.1431C>A (p.Ile477=)
n.364C>A
c.582C>A (p.Ile194=)
c.535C>A
c.1239C>A (p.Ile413=)
c.567C>A (p.Ile189=)
8g.43193810C=CA1779760589HGSNATc.1431C= (p.Ile477=)
n.364C=
c.582C= (p.Ile194=)
c.535C=
c.1239C= (p.Ile413=)
c.567C= (p.Ile189=)
8g.43193810C>GCA4736873HGSNATc.1431C>G (p.Ile477Met)
n.364C>G
c.582C>G (p.Ile194Met)
c.535C>G
c.1239C>G (p.Ile413Met)
c.567C>G (p.Ile189Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43193810C>TCA460579266HGSNATc.1431C>T (p.Ile477=)
n.364C>T
c.582C>T (p.Ile194=)
c.535C>T
c.1239C>T (p.Ile413=)
c.567C>T (p.Ile189=)
 ClinVar
8g.43193811A>CCA371119924HGSNATc.1432A>C (p.Asn478His)
n.365A>C
c.583A>C (p.Asn195His)
c.536A>C
c.1240A>C (p.Asn414His)
c.568A>C (p.Asn190His)
8g.43193811A>GCA371119925HGSNATc.1432A>G (p.Asn478Asp)
n.365A>G
c.583A>G (p.Asn195Asp)
c.536A>G
c.1240A>G (p.Asn414Asp)
c.568A>G (p.Asn190Asp)
8g.43193811A>TCA371119926HGSNATc.1432A>T (p.Asn478Tyr)
n.365A>T
c.583A>T (p.Asn195Tyr)
c.536A>T
c.1240A>T (p.Asn414Tyr)
c.568A>T (p.Asn190Tyr)
8g.43193812A=CA1779760590HGSNATc.1433A= (p.Asn478=)
n.366A=
c.584A= (p.Asn195=)
c.537A=
c.1241A= (p.Asn414=)
c.569A= (p.Asn190=)
8g.43193812A>CCA4736874HGSNATc.1433A>C (p.Asn478Thr)
n.366A>C
c.584A>C (p.Asn195Thr)
c.537A>C
c.1241A>C (p.Asn414Thr)
c.569A>C (p.Asn190Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43193812A>GCA4736875HGSNATc.1433A>G (p.Asn478Ser)
n.366A>G
c.584A>G (p.Asn195Ser)
c.537A>G
c.1241A>G (p.Asn414Ser)
c.569A>G (p.Asn190Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43193812A>TCA371119927HGSNATc.1433A>T (p.Asn478Ile)
n.366A>T
c.584A>T (p.Asn195Ile)
c.537A>T
c.1241A>T (p.Asn414Ile)
c.569A>T (p.Asn190Ile)
8g.43193813C>ACA371119928HGSNATc.1434C>A (p.Asn478Lys)
n.367C>A
c.585C>A (p.Asn195Lys)
c.538C>A
c.1242C>A (p.Asn414Lys)
c.570C>A (p.Asn190Lys)
 COSMIC COSMIC
8g.43193813C>GCA371119929HGSNATc.1434C>G (p.Asn478Lys)
n.367C>G
c.585C>G (p.Asn195Lys)
c.538C>G
c.1242C>G (p.Asn414Lys)
c.570C>G (p.Asn190Lys)
8g.43193813C>TCA460579273HGSNATc.1434C>T (p.Asn478=)
n.367C>T
c.585C>T (p.Asn195=)
c.538C>T
c.1242C>T (p.Asn414=)
c.570C>T (p.Asn190=)
8g.43193814T>ACA371119932HGSNATc.1435T>A (p.Ser479Thr)
n.368T>A
c.586T>A (p.Ser196Thr)
c.539T>A
c.1243T>A (p.Ser415Thr)
c.571T>A (p.Ser191Thr)
8g.43193814T>CCA371119931HGSNATc.1435T>C (p.Ser479Pro)
n.368T>C
c.586T>C (p.Ser196Pro)
c.539T>C
c.1243T>C (p.Ser415Pro)
c.571T>C (p.Ser191Pro)
8g.43193814T>GCA371119930HGSNATc.1435T>G (p.Ser479Ala)
n.368T>G
c.586T>G (p.Ser196Ala)
c.539T>G
c.1243T>G (p.Ser415Ala)
c.571T>G (p.Ser191Ala)
8g.43193814T=CA1779760591HGSNATc.1435T= (p.Ser479=)
n.368T=
c.586T= (p.Ser196=)
c.539T=
c.1243T= (p.Ser415=)
c.571T= (p.Ser191=)
8g.43193815C>ACA371119933HGSNATc.1436C>A (p.Ser479Tyr)
n.369C>A
c.587C>A (p.Ser196Tyr)
c.540C>A
c.1244C>A (p.Ser415Tyr)
c.572C>A (p.Ser191Tyr)
8g.43193815C>GCA371119934HGSNATc.1436C>G (p.Ser479Cys)
n.369C>G
c.587C>G (p.Ser196Cys)
c.540C>G
c.1244C>G (p.Ser415Cys)
c.572C>G (p.Ser191Cys)
8g.43193815C>TCA371119935HGSNATc.1436C>T (p.Ser479Phe)
n.369C>T
c.587C>T (p.Ser196Phe)
c.540C>T
c.1244C>T (p.Ser415Phe)
c.572C>T (p.Ser191Phe)
8g.43193816dupCA4736876HGSNATc.1437dup (p.Ile480HisfsTer?)
n.370dup
c.588dup (p.Ile197HisfsTer?)
c.541dup
c.1245dup (p.Ile416HisfsTer?)
c.573dup (p.Ile192HisfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43193816C>ACA460579282HGSNATc.1437C>A (p.Ser479=)
n.370C>A
c.588C>A (p.Ser196=)
c.541C>A
c.1245C>A (p.Ser415=)
c.573C>A (p.Ser191=)
8g.43193816C=CA1779760592HGSNATc.1437C= (p.Ser479=)
n.370C=
c.588C= (p.Ser196=)
c.541C=
c.1245C= (p.Ser415=)
c.573C= (p.Ser191=)
8g.43193816C>GCA460579279HGSNATc.1437C>G (p.Ser479=)
n.370C>G
c.588C>G (p.Ser196=)
c.541C>G
c.1245C>G (p.Ser415=)
c.573C>G (p.Ser191=)
8g.43193816C>TCA460579280HGSNATc.1437C>T (p.Ser479=)
n.370C>T
c.588C>T (p.Ser196=)
c.541C>T
c.1245C>T (p.Ser415=)
c.573C>T (p.Ser191=)
 dbSNP gnomAD v4
8g.43193817A=CA1779760593HGSNATc.1438A= (p.Ile480=)
n.371A=
c.589A= (p.Ile197=)
c.542A=
c.1246A= (p.Ile416=)
c.574A= (p.Ile192=)
8g.43193817A>CCA371119936HGSNATc.1438A>C (p.Ile480Leu)
n.371A>C
c.589A>C (p.Ile197Leu)
c.542A>C
c.1246A>C (p.Ile416Leu)
c.574A>C (p.Ile192Leu)
8g.43193817A>GCA4736877HGSNATc.1438A>G (p.Ile480Val)
n.371A>G
c.589A>G (p.Ile197Val)
c.542A>G
c.1246A>G (p.Ile416Val)
c.574A>G (p.Ile192Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.43193817A>TCA371119937HGSNATc.1438A>T (p.Ile480Phe)
n.371A>T
c.589A>T (p.Ile197Phe)
c.542A>T
c.1246A>T (p.Ile416Phe)
c.574A>T (p.Ile192Phe)
8g.43193818T>ACA371119938HGSNATc.1439T>A (p.Ile480Asn)
n.372T>A
c.590T>A (p.Ile197Asn)
c.543T>A
c.1247T>A (p.Ile416Asn)
c.575T>A (p.Ile192Asn)
8g.43193818T>CCA371119939HGSNATc.1439T>C (p.Ile480Thr)
n.372T>C
c.590T>C (p.Ile197Thr)
c.543T>C
c.1247T>C (p.Ile416Thr)
c.575T>C (p.Ile192Thr)
8g.43193818T>GCA371119940HGSNATc.1439T>G (p.Ile480Ser)
n.372T>G
c.590T>G (p.Ile197Ser)
c.543T>G
c.1247T>G (p.Ile416Ser)
c.575T>G (p.Ile192Ser)
8g.43193819C>ACA460579288HGSNATc.1440C>A (p.Ile480=)
n.373C>A
c.591C>A (p.Ile197=)
c.544C>A
c.1248C>A (p.Ile416=)
c.576C>A (p.Ile192=)
8g.43193819C=CA1779760594HGSNATc.1440C= (p.Ile480=)
n.373C=
c.591C= (p.Ile197=)
c.544C=
c.1248C= (p.Ile416=)
c.576C= (p.Ile192=)
8g.43193819C>GCA371119941HGSNATc.1440C>G (p.Ile480Met)
n.373C>G
c.591C>G (p.Ile197Met)
c.544C>G
c.1248C>G (p.Ile416Met)
c.576C>G (p.Ile192Met)
8g.43193819C>TCA4736878HGSNATc.1440C>T (p.Ile480=)
n.373C>T
c.591C>T (p.Ile197=)
c.544C>T
c.1248C>T (p.Ile416=)
c.576C>T (p.Ile192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43193820G>ACA176074504HGSNATc.1441G>A (p.Val481Met)
n.374G>A
c.592G>A (p.Val198Met)
c.545G>A
c.1249G>A (p.Val417Met)
c.577G>A (p.Val193Met)
 dbSNP gnomAD v2 gnomAD v4
8g.43193820G>CCA371119942HGSNATc.1441G>C (p.Val481Leu)
n.374G>C
c.592G>C (p.Val198Leu)
c.545G>C
c.1249G>C (p.Val417Leu)
c.577G>C (p.Val193Leu)
8g.43193820G=CA1779760595HGSNATc.1441G= (p.Val481=)
n.374G=
c.592G= (p.Val198=)
c.545G=
c.1249G= (p.Val417=)
c.577G= (p.Val193=)
8g.43193820G>TCA4736879HGSNATc.1441G>T (p.Val481Leu)
n.374G>T
c.592G>T (p.Val198Leu)
c.545G>T
c.1249G>T (p.Val417Leu)
c.577G>T (p.Val193Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43193821T>ACA4736880HGSNATc.1442T>A (p.Val481Glu)
n.375T>A
c.593T>A (p.Val198Glu)
c.546T>A
c.1250T>A (p.Val417Glu)
c.578T>A (p.Val193Glu)
 dbSNP ExAC
8g.43193821T>CCA371119943HGSNATc.1442T>C (p.Val481Ala)
n.375T>C
c.593T>C (p.Val198Ala)
c.546T>C
c.1250T>C (p.Val417Ala)
c.578T>C (p.Val193Ala)
8g.43193821T>GCA371119944HGSNATc.1442T>G (p.Val481Gly)
n.375T>G
c.593T>G (p.Val198Gly)
c.546T>G
c.1250T>G (p.Val417Gly)
c.578T>G (p.Val193Gly)
8g.43193821T=CA1779760596HGSNATc.1442T= (p.Val481=)
n.375T=
c.593T= (p.Val198=)
c.546T=
c.1250T= (p.Val417=)
c.578T= (p.Val193=)
8g.43193822G>ACA460579302HGSNATc.1443G>A (p.Val481=)
n.376G>A
c.594G>A (p.Val198=)
c.547G>A
c.1251G>A (p.Val417=)
c.579G>A (p.Val193=)
8g.43193822G>CCA460579304HGSNATc.1443G>C (p.Val481=)
n.376G>C
c.594G>C (p.Val198=)
c.547G>C
c.1251G>C (p.Val417=)
c.579G>C (p.Val193=)
 gnomAD v4
8g.43193822G>TCA460579307HGSNATc.1443G>T (p.Val481=)
n.376G>T
c.594G>T (p.Val198=)
c.547G>T
c.1251G>T (p.Val417=)
c.579G>T (p.Val193=)
8g.43193823A>CCA371119945HGSNATc.1444A>C (p.Met482Leu)
n.377A>C
c.595A>C (p.Met199Leu)
c.548A>C
c.1252A>C (p.Met418Leu)
c.580A>C (p.Met194Leu)
8g.43193823A>GCA371119946HGSNATc.1444A>G (p.Met482Val)
n.377A>G
c.595A>G (p.Met199Val)
c.548A>G
c.1252A>G (p.Met418Val)
c.580A>G (p.Met194Val)
8g.43193823A>TCA371119947HGSNATc.1444A>T (p.Met482Leu)
n.377A>T
c.595A>T (p.Met199Leu)
c.548A>T
c.1252A>T (p.Met418Leu)
c.580A>T (p.Met194Leu)
8g.43193824T>ACA114867HGSNATc.1445T>A (p.Met482Lys)
n.378T>A
c.596T>A (p.Met199Lys)
c.549T>A
c.1253T>A (p.Met418Lys)
c.581T>A (p.Met194Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43193824T>CCA371119948HGSNATc.1445T>C (p.Met482Thr)
n.378T>C
c.596T>C (p.Met199Thr)
c.549T>C
c.1253T>C (p.Met418Thr)
c.581T>C (p.Met194Thr)
8g.43193824T>GCA371119949HGSNATc.1445T>G (p.Met482Arg)
n.378T>G
c.596T>G (p.Met199Arg)
c.549T>G
c.1253T>G (p.Met418Arg)
c.581T>G (p.Met194Arg)
8g.43193824T=CA1779760597HGSNATc.1445T= (p.Met482=)
n.378T=
c.596T= (p.Met199=)
c.549T=
c.1253T= (p.Met418=)
c.581T= (p.Met194=)
8g.43193825G>ACA371119950HGSNATc.1446G>A (p.Met482Ile)
n.379G>A
c.597G>A (p.Met199Ile)
c.550G>A
c.1254G>A (p.Met418Ile)
c.582G>A (p.Met194Ile)
8g.43193825G>CCA371119951HGSNATc.1446G>C (p.Met482Ile)
n.379G>C
c.597G>C (p.Met199Ile)
c.550G>C
c.1254G>C (p.Met418Ile)
c.582G>C (p.Met194Ile)
8g.43193825G>TCA371119952HGSNATc.1446G>T (p.Met482Ile)
n.379G>T
c.597G>T (p.Met199Ile)
c.550G>T
c.1254G>T (p.Met418Ile)
c.582G>T (p.Met194Ile)
8g.43193826G>ACA371119954HGSNATc.1447G>A (p.Ala483Thr)
n.380G>A
c.598G>A (p.Ala200Thr)
c.551G>A
c.1255G>A (p.Ala419Thr)
c.583G>A (p.Ala195Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.43193826G>CCA371119955HGSNATc.1447G>C (p.Ala483Pro)
n.380G>C
c.598G>C (p.Ala200Pro)
c.551G>C
c.1255G>C (p.Ala419Pro)
c.583G>C (p.Ala195Pro)
8g.43193826G=CA1779760599HGSNATc.1447G= (p.Ala483=)
n.380G=
c.598G= (p.Ala200=)
c.551G=
c.1255G= (p.Ala419=)
c.583G= (p.Ala195=)
8g.43193826G>TCA371119953HGSNATc.1447G>T (p.Ala483Ser)
n.380G>T
c.598G>T (p.Ala200Ser)
c.551G>T
c.1255G>T (p.Ala419Ser)
c.583G>T (p.Ala195Ser)
8g.43193826_43193827delinsGCCA1779760598HGSNATc.1447_1448delinsGC (p.Ala483=)
n.380_381delinsGC
c.598_599delinsGC (p.Ala200=)
c.551_552delinsGC
c.1255_1256delinsGC (p.Ala419=)
c.583_584delinsGC (p.Ala195=)
8g.43193827C>ACA371119956HGSNATc.1448C>A (p.Ala483Asp)
n.381C>A
c.599C>A (p.Ala200Asp)
c.552C>A
c.1256C>A (p.Ala419Asp)
c.584C>A (p.Ala195Asp)
8g.43193827C>GCA371119957HGSNATc.1448C>G (p.Ala483Gly)
n.381C>G
c.599C>G (p.Ala200Gly)
c.552C>G
c.1256C>G (p.Ala419Gly)
c.584C>G (p.Ala195Gly)
8g.43193827C>TCA371119958HGSNATc.1448C>T (p.Ala483Val)
n.381C>T
c.599C>T (p.Ala200Val)
c.552C>T
c.1256C>T (p.Ala419Val)
c.584C>T (p.Ala195Val)
 gnomAD v4
8g.43193828delCA4736881HGSNATc.1449del (p.Leu485Ter)
n.382del
c.600del (p.Leu202Ter)
c.553del
c.1257del (p.Leu421Ter)
c.585del (p.Leu197Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.43193828C>ACA460579324HGSNATc.1449C>A (p.Ala483=)
n.382C>A
c.600C>A (p.Ala200=)
c.553C>A
c.1257C>A (p.Ala419=)
c.585C>A (p.Ala195=)
8g.43193828C>GCA460579325HGSNATc.1449C>G (p.Ala483=)
n.382C>G
c.600C>G (p.Ala200=)
c.553C>G
c.1257C>G (p.Ala419=)
c.585C>G (p.Ala195=)
8g.43193828C>TCA460579327HGSNATc.1449C>T (p.Ala483=)
n.382C>T
c.600C>T (p.Ala200=)
c.553C>T
c.1257C>T (p.Ala419=)
c.585C>T (p.Ala195=)
8g.43193829T>ACA371119961HGSNATc.1450T>A (p.Phe484Ile)
n.383T>A
c.601T>A (p.Phe201Ile)
c.554T>A
c.1258T>A (p.Phe420Ile)
c.586T>A (p.Phe196Ile)
8g.43193829T>CCA371119960HGSNATc.1450T>C (p.Phe484Leu)
n.383T>C
c.601T>C (p.Phe201Leu)
c.554T>C
c.1258T>C (p.Phe420Leu)
c.586T>C (p.Phe196Leu)
8g.43193829T>GCA371119959HGSNATc.1450T>G (p.Phe484Val)
n.383T>G
c.601T>G (p.Phe201Val)
c.554T>G
c.1258T>G (p.Phe420Val)
c.586T>G (p.Phe196Val)
8g.43193830T>ACA371119962HGSNATc.1451T>A (p.Phe484Tyr)
n.384T>A
c.602T>A (p.Phe201Tyr)
c.555T>A
c.1259T>A (p.Phe420Tyr)
c.587T>A (p.Phe196Tyr)
8g.43193830T>CCA371119963HGSNATc.1451T>C (p.Phe484Ser)
n.384T>C
c.602T>C (p.Phe201Ser)
c.555T>C
c.1259T>C (p.Phe420Ser)
c.587T>C (p.Phe196Ser)
8g.43193830T>GCA371119964HGSNATc.1451T>G (p.Phe484Cys)
n.384T>G
c.602T>G (p.Phe201Cys)
c.555T>G
c.1259T>G (p.Phe420Cys)
c.587T>G (p.Phe196Cys)
8g.43193831T>ACA371119965HGSNATc.1452T>A (p.Phe484Leu)
n.385T>A
c.603T>A (p.Phe201Leu)
c.556T>A
c.1260T>A (p.Phe420Leu)
c.588T>A (p.Phe196Leu)
8g.43193831T>CCA460579336HGSNATc.1452T>C (p.Phe484=)
n.385T>C
c.603T>C (p.Phe201=)
c.556T>C
c.1260T>C (p.Phe420=)
c.588T>C (p.Phe196=)
 ClinVar dbSNP
8g.43193831T>GCA371119966HGSNATc.1452T>G (p.Phe484Leu)
n.385T>G
c.603T>G (p.Phe201Leu)
c.556T>G
c.1260T>G (p.Phe420Leu)
c.588T>G (p.Phe196Leu)
8g.43193832T>ACA371119967HGSNATc.1453T>A (p.Leu485Ile)
n.386T>A
c.604T>A (p.Leu202Ile)
c.557T>A
c.1261T>A (p.Leu421Ile)
c.589T>A (p.Leu197Ile)
8g.43193832T>CCA460579341HGSNATc.1453T>C (p.Leu485=)
n.386T>C
c.604T>C (p.Leu202=)
c.557T>C
c.1261T>C (p.Leu421=)
c.589T>C (p.Leu197=)
 ClinVar
8g.43193832T>GCA371119968HGSNATc.1453T>G (p.Leu485Val)
n.386T>G
c.604T>G (p.Leu202Val)
c.557T>G
c.1261T>G (p.Leu421Val)
c.589T>G (p.Leu197Val)
 dbSNP
8g.43193832T=CA1779760600HGSNATc.1453T= (p.Leu485=)
n.386T=
c.604T= (p.Leu202=)
c.557T=
c.1261T= (p.Leu421=)
c.589T= (p.Leu197=)
8g.43193833T>ACA371119970HGSNATc.1454T>A (p.Leu485Ter)
n.387T>A
c.605T>A (p.Leu202Ter)
c.558T>A
c.1262T>A (p.Leu421Ter)
c.590T>A (p.Leu197Ter)
8g.43193833T>CCA371119971HGSNATc.1454T>C (p.Leu485Ser)
n.387T>C
c.605T>C (p.Leu202Ser)
c.558T>C
c.1262T>C (p.Leu421Ser)
c.590T>C (p.Leu197Ser)
8g.43193833T>GCA371119969HGSNATc.1454T>G (p.Leu485Ter)
n.387T>G
c.605T>G (p.Leu202Ter)
c.558T>G
c.1262T>G (p.Leu421Ter)
c.590T>G (p.Leu197Ter)
8g.43193834A=CA1779760601HGSNATc.1455A= (p.Leu485=)
n.388A=
c.606A= (p.Leu202=)
c.559A=
c.1263A= (p.Leu421=)
c.591A= (p.Leu197=)
8g.43193834A>CCA371119972HGSNATc.1455A>C (p.Leu485Phe)
n.388A>C
c.606A>C (p.Leu202Phe)
c.559A>C
c.1263A>C (p.Leu421Phe)
c.591A>C (p.Leu197Phe)
8g.43193834A>GCA460579348HGSNATc.1455A>G (p.Leu485=)
n.388A>G
c.606A>G (p.Leu202=)
c.559A>G
c.1263A>G (p.Leu421=)
c.591A>G (p.Leu197=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.43193834A>TCA371119973HGSNATc.1455A>T (p.Leu485Phe)
n.388A>T
c.606A>T (p.Leu202Phe)
c.559A>T
c.1263A>T (p.Leu421Phe)
c.591A>T (p.Leu197Phe)
8g.43193834dupCA2580614355HGSNATc.1455dup (p.Gly486ArgfsTer?)
n.388dup
c.606dup (p.Gly203ArgfsTer?)
c.559dup
c.1263dup (p.Gly422ArgfsTer?)
c.591dup (p.Gly198ArgfsTer?)
 ClinVar
8g.43193835G>ACA4736882HGSNATc.1456G>A (p.Gly486Arg)
n.389G>A
c.607G>A (p.Gly203Arg)
c.560G>A
c.1264G>A (p.Gly422Arg)
c.592G>A (p.Gly198Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43193835G>CCA371119975HGSNATc.1456G>C (p.Gly486Arg)
n.389G>C
c.607G>C (p.Gly203Arg)
c.560G>C
c.1264G>C (p.Gly422Arg)
c.592G>C (p.Gly198Arg)
8g.43193835G=CA1779760602HGSNATc.1456G= (p.Gly486=)
n.389G=
c.607G= (p.Gly203=)
c.560G=
c.1264G= (p.Gly422=)
c.592G= (p.Gly198=)
8g.43193835G>TCA371119974HGSNATc.1456G>T (p.Gly486Ter)
n.389G>T
c.607G>T (p.Gly203Ter)
c.560G>T
c.1264G>T (p.Gly422Ter)
c.592G>T (p.Gly198Ter)
8g.43193836G>ACA371119976HGSNATc.1457G>A (p.Gly486Glu)
n.390G>A
c.608G>A (p.Gly203Glu)
c.561G>A
c.1265G>A (p.Gly422Glu)
c.593G>A (p.Gly198Glu)
8g.43193836G>CCA371119978HGSNATc.1457G>C (p.Gly486Ala)
n.390G>C
c.608G>C (p.Gly203Ala)
c.561G>C
c.1265G>C (p.Gly422Ala)
c.593G>C (p.Gly198Ala)
 gnomAD v4
8g.43193836G=CA1779760603HGSNATc.1457G= (p.Gly486=)
n.390G=
c.608G= (p.Gly203=)
c.561G=
c.1265G= (p.Gly422=)
c.593G= (p.Gly198=)
8g.43193836G>TCA371119977HGSNATc.1457G>T (p.Gly486Val)
n.390G>T
c.608G>T (p.Gly203Val)
c.561G>T
c.1265G>T (p.Gly422Val)
c.593G>T (p.Gly198Val)
 ClinVar dbSNP
8g.43193837A=CA1779760604HGSNATc.1458A= (p.Gly486=)
n.391A=
c.609A= (p.Gly203=)
c.562A=
c.1266A= (p.Gly422=)
c.594A= (p.Gly198=)
8g.43193837A>CCA460579359HGSNATc.1458A>C (p.Gly486=)
n.391A>C
c.609A>C (p.Gly203=)
c.562A>C
c.1266A>C (p.Gly422=)
c.594A>C (p.Gly198=)
8g.43193837A>GCA4736883HGSNATc.1458A>G (p.Gly486=)
n.391A>G
c.609A>G (p.Gly203=)
c.562A>G
c.1266A>G (p.Gly422=)
c.594A>G (p.Gly198=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.43193837A>TCA460579362HGSNATc.1458A>T (p.Gly486=)
n.391A>T
c.609A>T (p.Gly203=)
c.562A>T
c.1266A>T (p.Gly422=)
c.594A>T (p.Gly198=)
8g.43193838G>ACA371119979HGSNATc.1459G>A (p.Val487Ile)
n.392G>A
c.610G>A (p.Val204Ile)
c.563G>A
c.1267G>A (p.Val423Ile)
c.595G>A (p.Val199Ile)
 gnomAD v4
8g.43193838G>CCA371119980HGSNATc.1459G>C (p.Val487Leu)
n.392G>C
c.610G>C (p.Val204Leu)
c.563G>C
c.1267G>C (p.Val423Leu)
c.595G>C (p.Val199Leu)
8g.43193838G>TCA371119981HGSNATc.1459G>T (p.Val487Phe)
n.392G>T
c.610G>T (p.Val204Phe)
c.563G>T
c.1267G>T (p.Val423Phe)
c.595G>T (p.Val199Phe)
8g.43193839T>ACA371119982HGSNATc.1460T>A (p.Val487Asp)
n.393T>A
c.611T>A (p.Val204Asp)
c.564T>A
c.1268T>A (p.Val423Asp)
c.596T>A (p.Val199Asp)
8g.43193839T>CCA371119983HGSNATc.1460T>C (p.Val487Ala)
n.393T>C
c.611T>C (p.Val204Ala)
c.564T>C
c.1268T>C (p.Val423Ala)
c.596T>C (p.Val199Ala)
8g.43193839T>GCA371119984HGSNATc.1460T>G (p.Val487Gly)
n.393T>G
c.611T>G (p.Val204Gly)
c.564T>G
c.1268T>G (p.Val423Gly)
c.596T>G (p.Val199Gly)
8g.43193840T>ACA460579371HGSNATc.1461T>A (p.Val487=)
n.394T>A
c.612T>A (p.Val204=)
c.565T>A
c.1269T>A (p.Val423=)
c.597T>A (p.Val199=)
8g.43193840T>CCA460579372HGSNATc.1461T>C (p.Val487=)
n.394T>C
c.612T>C (p.Val204=)
c.565T>C
c.1269T>C (p.Val423=)
c.597T>C (p.Val199=)
8g.43193840T>GCA460579369HGSNATc.1461T>G (p.Val487=)
n.394T>G
c.612T>G (p.Val204=)
c.565T>G
c.1269T>G (p.Val423=)
c.597T>G (p.Val199=)
8g.43193841C>ACA371119985HGSNATc.1462C>A (p.Gln488Lys)
n.395C>A
c.613C>A (p.Gln205Lys)
c.566C>A
c.1270C>A (p.Gln424Lys)
c.598C>A (p.Gln200Lys)
8g.43193841C>GCA371119986HGSNATc.1462C>G (p.Gln488Glu)
n.395C>G
c.613C>G (p.Gln205Glu)
c.566C>G
c.1270C>G (p.Gln424Glu)
c.598C>G (p.Gln200Glu)
8g.43193841C>TCA371119987HGSNATc.1462C>T (p.Gln488Ter)
n.395C>T
c.613C>T (p.Gln205Ter)
c.566C>T
c.1270C>T (p.Gln424Ter)
c.598C>T (p.Gln200Ter)
 gnomAD v4

Number of alleles fetched