Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.43178088T>ACA371116888HGSNATc.866T>A (p.Met289Lys)
c.107T>A (p.Met36Lys)
c.821-4057T>A (n.821-4057T>A)
c.2T>A (p.Met1Lys)
8g.43178088T>CCA371116890HGSNATc.866T>C (p.Met289Thr)
c.107T>C (p.Met36Thr)
c.821-4057T>C (n.821-4057T>C)
c.2T>C (p.Met1Thr)
 gnomAD v4
8g.43178088T>GCA371116891HGSNATc.866T>G (p.Met289Arg)
c.107T>G (p.Met36Arg)
c.821-4057T>G (n.821-4057T>G)
c.2T>G (p.Met1Arg)
8g.43178089G>ACA371116895HGSNATc.867G>A (p.Met289Ile)
c.108G>A (p.Met36Ile)
c.821-4056G>A (n.821-4056G>A)
c.3G>A (p.Met1Ile)
8g.43178089G>CCA371116896HGSNATc.867G>C (p.Met289Ile)
c.108G>C (p.Met36Ile)
c.821-4056G>C (n.821-4056G>C)
c.3G>C (p.Met1Ile)
8g.43178089G>TCA371116893HGSNATc.867G>T (p.Met289Ile)
c.108G>T (p.Met36Ile)
c.821-4056G>T (n.821-4056G>T)
c.3G>T (p.Met1Ile)
8g.43178090G>ACA371116898HGSNATc.868G>A (p.Gly290Arg)
c.109G>A (p.Gly37Arg)
c.821-4055G>A (n.821-4055G>A)
c.4G>A (p.Gly2Arg)
8g.43178090G>CCA371116900HGSNATc.868G>C (p.Gly290Arg)
c.109G>C (p.Gly37Arg)
c.821-4055G>C (n.821-4055G>C)
c.4G>C (p.Gly2Arg)
8g.43178090G>TCA371116902HGSNATc.868G>T (p.Gly290Ter)
c.109G>T (p.Gly37Ter)
c.821-4055G>T (n.821-4055G>T)
c.4G>T (p.Gly2Ter)
8g.43178091G>ACA371116903HGSNATc.869G>A (p.Gly290Glu)
c.110G>A (p.Gly37Glu)
c.821-4054G>A (n.821-4054G>A)
c.5G>A (p.Gly2Glu)
8g.43178091G>CCA371116904HGSNATc.869G>C (p.Gly290Ala)
c.110G>C (p.Gly37Ala)
c.821-4054G>C (n.821-4054G>C)
c.5G>C (p.Gly2Ala)
8g.43178091G>TCA371116906HGSNATc.869G>T (p.Gly290Val)
c.110G>T (p.Gly37Val)
c.821-4054G>T (n.821-4054G>T)
c.5G>T (p.Gly2Val)
8g.43178092A>CCA460572634HGSNATc.870A>C (p.Gly290=)
c.111A>C (p.Gly37=)
c.821-4053A>C (n.821-4053A>C)
c.6A>C (p.Gly2=)
8g.43178092A>GCA460572638HGSNATc.870A>G (p.Gly290=)
c.111A>G (p.Gly37=)
c.821-4053A>G (n.821-4053A>G)
c.6A>G (p.Gly2=)
8g.43178092A>TCA460572636HGSNATc.870A>T (p.Gly290=)
c.111A>T (p.Gly37=)
c.821-4053A>T (n.821-4053A>T)
c.6A>T (p.Gly2=)
8g.43178093T>ACA4736676HGSNATc.871T>A (p.Ser291Thr)
c.112T>A (p.Ser38Thr)
c.821-4052T>A (n.821-4052T>A)
c.7T>A (p.Ser3Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.43178093T>CCA371116908HGSNATc.871T>C (p.Ser291Pro)
c.112T>C (p.Ser38Pro)
c.821-4052T>C (n.821-4052T>C)
c.7T>C (p.Ser3Pro)
8g.43178093T>GCA371116910HGSNATc.871T>G (p.Ser291Ala)
c.112T>G (p.Ser38Ala)
c.821-4052T>G (n.821-4052T>G)
c.7T>G (p.Ser3Ala)
8g.43178093T=CA1779771382HGSNATc.871T= (p.Ser291=)
c.112T= (p.Ser38=)
c.821-4052T= (n.821-4052T=)
c.7T= (p.Ser3=)
8g.43178094C>ACA371116911HGSNATc.872C>A (p.Ser291Tyr)
c.113C>A (p.Ser38Tyr)
c.821-4051C>A (n.821-4051C>A)
c.8C>A (p.Ser3Tyr)
8g.43178094C>GCA371116912HGSNATc.872C>G (p.Ser291Cys)
c.113C>G (p.Ser38Cys)
c.821-4051C>G (n.821-4051C>G)
c.8C>G (p.Ser3Cys)
8g.43178094C>TCA371116914HGSNATc.872C>T (p.Ser291Phe)
c.113C>T (p.Ser38Phe)
c.821-4051C>T (n.821-4051C>T)
c.8C>T (p.Ser3Phe)
8g.43178095T>ACA460572655HGSNATc.873T>A (p.Ser291=)
c.114T>A (p.Ser38=)
c.821-4050T>A (n.821-4050T>A)
c.9T>A (p.Ser3=)
8g.43178095T>CCA460572658HGSNATc.873T>C (p.Ser291=)
c.114T>C (p.Ser38=)
c.821-4050T>C (n.821-4050T>C)
c.9T>C (p.Ser3=)
 dbSNP
8g.43178095T>GCA460572661HGSNATc.873T>G (p.Ser291=)
c.114T>G (p.Ser38=)
c.821-4050T>G (n.821-4050T>G)
c.9T>G (p.Ser3=)
8g.43178095T=CA1779771383HGSNATc.873T= (p.Ser291=)
c.114T= (p.Ser38=)
c.821-4050T= (n.821-4050T=)
c.9T= (p.Ser3=)
8g.43178096T>ACA371116918HGSNATc.874T>A (p.Ser292Thr)
c.115T>A (p.Ser39Thr)
c.821-4049T>A (n.821-4049T>A)
c.10T>A (p.Ser4Thr)
8g.43178096T>CCA371116919HGSNATc.874T>C (p.Ser292Pro)
c.115T>C (p.Ser39Pro)
c.821-4049T>C (n.821-4049T>C)
c.10T>C (p.Ser4Pro)
8g.43178096T>GCA371116916HGSNATc.874T>G (p.Ser292Ala)
c.115T>G (p.Ser39Ala)
c.821-4049T>G (n.821-4049T>G)
c.10T>G (p.Ser4Ala)
8g.43178097C>ACA371116921HGSNATc.875C>A (p.Ser292Tyr)
c.116C>A (p.Ser39Tyr)
c.821-4048C>A (n.821-4048C>A)
c.11C>A (p.Ser4Tyr)
8g.43178097C=CA1779771384HGSNATc.875C= (p.Ser292=)
c.116C= (p.Ser39=)
c.821-4048C= (n.821-4048C=)
c.11C= (p.Ser4=)
8g.43178097C>GCA371116923HGSNATc.875C>G (p.Ser292Cys)
c.116C>G (p.Ser39Cys)
c.821-4048C>G (n.821-4048C>G)
c.11C>G (p.Ser4Cys)
8g.43178097C>TCA176068184HGSNATc.875C>T (p.Ser292Phe)
c.116C>T (p.Ser39Phe)
c.821-4048C>T (n.821-4048C>T)
c.11C>T (p.Ser4Phe)
 dbSNP COSMIC
8g.43178098C>ACA460572676HGSNATc.876C>A (p.Ser292=)
c.117C>A (p.Ser39=)
c.821-4047C>A (n.821-4047C>A)
c.12C>A (p.Ser4=)
8g.43178098C>GCA460572678HGSNATc.876C>G (p.Ser292=)
c.117C>G (p.Ser39=)
c.821-4047C>G (n.821-4047C>G)
c.12C>G (p.Ser4=)
8g.43178098C>TCA460572680HGSNATc.876C>T (p.Ser292=)
c.117C>T (p.Ser39=)
c.821-4047C>T (n.821-4047C>T)
c.12C>T (p.Ser4=)
8g.43178099A=CA1779771385HGSNATc.877A= (p.Ile293=)
c.118A= (p.Ile40=)
c.821-4046A= (n.821-4046A=)
c.13A= (p.Ile5=)
8g.43178099A>CCA371116925HGSNATc.877A>C (p.Ile293Leu)
c.118A>C (p.Ile40Leu)
c.821-4046A>C (n.821-4046A>C)
c.13A>C (p.Ile5Leu)
8g.43178099A>GCA4736677HGSNATc.877A>G (p.Ile293Val)
c.118A>G (p.Ile40Val)
c.821-4046A>G (n.821-4046A>G)
c.13A>G (p.Ile5Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43178099A>TCA371116927HGSNATc.877A>T (p.Ile293Phe)
c.118A>T (p.Ile40Phe)
c.821-4046A>T (n.821-4046A>T)
c.13A>T (p.Ile5Phe)
8g.43178100T>ACA371116929HGSNATc.878T>A (p.Ile293Asn)
c.119T>A (p.Ile40Asn)
c.821-4045T>A (n.821-4045T>A)
c.14T>A (p.Ile5Asn)
8g.43178100T>CCA371116932HGSNATc.878T>C (p.Ile293Thr)
c.119T>C (p.Ile40Thr)
c.821-4045T>C (n.821-4045T>C)
c.14T>C (p.Ile5Thr)
 gnomAD v4
8g.43178100T>GCA371116930HGSNATc.878T>G (p.Ile293Ser)
c.119T>G (p.Ile40Ser)
c.821-4045T>G (n.821-4045T>G)
c.14T>G (p.Ile5Ser)
8g.43178101T>ACA460572711HGSNATc.879T>A (p.Ile293=)
c.120T>A (p.Ile40=)
c.821-4044T>A (n.821-4044T>A)
c.15T>A (p.Ile5=)
8g.43178101T>CCA460572715HGSNATc.879T>C (p.Ile293=)
c.120T>C (p.Ile40=)
c.821-4044T>C (n.821-4044T>C)
c.15T>C (p.Ile5=)
8g.43178101T>GCA371116934HGSNATc.879T>G (p.Ile293Met)
c.120T>G (p.Ile40Met)
c.821-4044T>G (n.821-4044T>G)
c.15T>G (p.Ile5Met)
8g.43178102T>ACA371116936HGSNATc.880T>A (p.Phe294Ile)
c.121T>A (p.Phe41Ile)
c.821-4043T>A (n.821-4043T>A)
c.16T>A (p.Phe6Ile)
8g.43178102T>CCA371116937HGSNATc.880T>C (p.Phe294Leu)
c.121T>C (p.Phe41Leu)
c.821-4043T>C (n.821-4043T>C)
c.16T>C (p.Phe6Leu)
8g.43178102T>GCA371116939HGSNATc.880T>G (p.Phe294Val)
c.121T>G (p.Phe41Val)
c.821-4043T>G (n.821-4043T>G)
c.16T>G (p.Phe6Val)
8g.43178103T>ACA371116944HGSNATc.881T>A (p.Phe294Tyr)
c.122T>A (p.Phe41Tyr)
c.821-4042T>A (n.821-4042T>A)
c.17T>A (p.Phe6Tyr)
8g.43178103T>CCA371116943HGSNATc.881T>C (p.Phe294Ser)
c.122T>C (p.Phe41Ser)
c.821-4042T>C (n.821-4042T>C)
c.17T>C (p.Phe6Ser)
8g.43178103T>GCA371116941HGSNATc.881T>G (p.Phe294Cys)
c.122T>G (p.Phe41Cys)
c.821-4042T>G (n.821-4042T>G)
c.17T>G (p.Phe6Cys)
8g.43178104T>ACA371116946HGSNATc.882T>A (p.Phe294Leu)
c.123T>A (p.Phe41Leu)
c.821-4041T>A (n.821-4041T>A)
c.18T>A (p.Phe6Leu)
8g.43178104T>CCA460572737HGSNATc.882T>C (p.Phe294=)
c.123T>C (p.Phe41=)
c.821-4041T>C (n.821-4041T>C)
c.18T>C (p.Phe6=)
8g.43178104T>GCA371116948HGSNATc.882T>G (p.Phe294Leu)
c.123T>G (p.Phe41Leu)
c.821-4041T>G (n.821-4041T>G)
c.18T>G (p.Phe6Leu)
8g.43178105C>ACA371116950HGSNATc.883C>A (p.Leu295Ile)
c.124C>A (p.Leu42Ile)
c.821-4040C>A (n.821-4040C>A)
c.19C>A (p.Leu7Ile)
8g.43178105C=CA1779771386HGSNATc.883C= (p.Leu295=)
c.124C= (p.Leu42=)
c.821-4040C= (n.821-4040C=)
c.19C= (p.Leu7=)
8g.43178105C>GCA371116951HGSNATc.883C>G (p.Leu295Val)
c.124C>G (p.Leu42Val)
c.821-4040C>G (n.821-4040C>G)
c.19C>G (p.Leu7Val)
 dbSNP gnomAD v2
8g.43178105C>TCA460572748HGSNATc.883C>T (p.Leu295=)
c.124C>T (p.Leu42=)
c.821-4040C>T (n.821-4040C>T)
c.19C>T (p.Leu7=)
8g.43178106T>ACA371116952HGSNATc.884T>A (p.Leu295Gln)
c.125T>A (p.Leu42Gln)
c.821-4039T>A (n.821-4039T>A)
c.20T>A (p.Leu7Gln)
 gnomAD v4
8g.43178106T>CCA371116953HGSNATc.884T>C (p.Leu295Pro)
c.125T>C (p.Leu42Pro)
c.821-4039T>C (n.821-4039T>C)
c.20T>C (p.Leu7Pro)
8g.43178106T>GCA371116955HGSNATc.884T>G (p.Leu295Arg)
c.125T>G (p.Leu42Arg)
c.821-4039T>G (n.821-4039T>G)
c.20T>G (p.Leu7Arg)
8g.43178107A=CA1779771387HGSNATc.885A= (p.Leu295=)
c.126A= (p.Leu42=)
c.821-4038A= (n.821-4038A=)
c.21A= (p.Leu7=)
8g.43178107A>CCA460572764HGSNATc.885A>C (p.Leu295=)
c.126A>C (p.Leu42=)
c.821-4038A>C (n.821-4038A>C)
c.21A>C (p.Leu7=)
8g.43178107A>GCA4736678HGSNATc.885A>G (p.Leu295=)
c.126A>G (p.Leu42=)
c.821-4038A>G (n.821-4038A>G)
c.21A>G (p.Leu7=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43178107A>TCA460572767HGSNATc.885A>T (p.Leu295=)
c.126A>T (p.Leu42=)
c.821-4038A>T (n.821-4038A>T)
c.21A>T (p.Leu7=)
8g.43178108delCA2687154552HGSNATc.886del (p.Ser296ArgfsTer2)
c.127del (p.Ser43ArgfsTer2)
c.821-4037del (n.821-4037del)
c.22del (p.Ser8ArgfsTer2)
 gnomAD v4
8g.43178108T>ACA371116958HGSNATc.886T>A (p.Ser296Thr)
c.127T>A (p.Ser43Thr)
c.821-4037T>A (n.821-4037T>A)
c.22T>A (p.Ser8Thr)
8g.43178108T>CCA371116959HGSNATc.886T>C (p.Ser296Pro)
c.127T>C (p.Ser43Pro)
c.821-4037T>C (n.821-4037T>C)
c.22T>C (p.Ser8Pro)
8g.43178108T>GCA371116960HGSNATc.886T>G (p.Ser296Ala)
c.127T>G (p.Ser43Ala)
c.821-4037T>G (n.821-4037T>G)
c.22T>G (p.Ser8Ala)
8g.43178109C>ACA371116962HGSNATc.887C>A (p.Ser296Ter)
c.128C>A (p.Ser43Ter)
c.821-4036C>A (n.821-4036C>A)
c.23C>A (p.Ser8Ter)
 ClinVar dbSNP
8g.43178109C=CA1779771388HGSNATc.887C= (p.Ser296=)
c.128C= (p.Ser43=)
c.821-4036C= (n.821-4036C=)
c.23C= (p.Ser8=)
8g.43178109C>GCA371116964HGSNATc.887C>G (p.Ser296Trp)
c.128C>G (p.Ser43Trp)
c.821-4036C>G (n.821-4036C>G)
c.23C>G (p.Ser8Trp)
8g.43178109C>TCA4736679HGSNATc.887C>T (p.Ser296Leu)
c.128C>T (p.Ser43Leu)
c.821-4036C>T (n.821-4036C>T)
c.23C>T (p.Ser8Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43178110G>ACA4736680HGSNATc.888G>A (p.Ser296=)
c.129G>A (p.Ser43=)
c.821-4035G>A (n.821-4035G>A)
c.24G>A (p.Ser8=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43178110G>CCA460572793HGSNATc.888G>C (p.Ser296=)
c.129G>C (p.Ser43=)
c.821-4035G>C (n.821-4035G>C)
c.24G>C (p.Ser8=)
 ClinVar
8g.43178110G=CA1779771389HGSNATc.888G= (p.Ser296=)
c.129G= (p.Ser43=)
c.821-4035G= (n.821-4035G=)
c.24G= (p.Ser8=)
8g.43178110G>TCA460572800HGSNATc.888G>T (p.Ser296=)
c.129G>T (p.Ser43=)
c.821-4035G>T (n.821-4035G>T)
c.24G>T (p.Ser8=)
8g.43178111A>CCA371116967HGSNATc.889A>C (p.Met297Leu)
c.130A>C (p.Met44Leu)
c.821-4034A>C (n.821-4034A>C)
c.25A>C (p.Met9Leu)
8g.43178111A>GCA371116969HGSNATc.889A>G (p.Met297Val)
c.130A>G (p.Met44Val)
c.821-4034A>G (n.821-4034A>G)
c.25A>G (p.Met9Val)
8g.43178111A>TCA371116970HGSNATc.889A>T (p.Met297Leu)
c.130A>T (p.Met44Leu)
c.821-4034A>T (n.821-4034A>T)
c.25A>T (p.Met9Leu)
8g.43178112T>ACA371116972HGSNATc.890T>A (p.Met297Lys)
c.131T>A (p.Met44Lys)
c.821-4033T>A (n.821-4033T>A)
c.26T>A (p.Met9Lys)
8g.43178112T>CCA371116974HGSNATc.890T>C (p.Met297Thr)
c.131T>C (p.Met44Thr)
c.821-4033T>C (n.821-4033T>C)
c.26T>C (p.Met9Thr)
 dbSNP gnomAD v3 gnomAD v4
8g.43178112T>GCA371116975HGSNATc.890T>G (p.Met297Arg)
c.131T>G (p.Met44Arg)
c.821-4033T>G (n.821-4033T>G)
c.26T>G (p.Met9Arg)
8g.43178112T=CA1779771390HGSNATc.890T= (p.Met297=)
c.131T= (p.Met44=)
c.821-4033T= (n.821-4033T=)
c.26T= (p.Met9=)
8g.43178113G>ACA371116977HGSNATc.891G>A (p.Met297Ile)
c.132G>A (p.Met44Ile)
c.821-4032G>A (n.821-4032G>A)
c.27G>A (p.Met9Ile)
8g.43178113G>CCA371116978HGSNATc.891G>C (p.Met297Ile)
c.132G>C (p.Met44Ile)
c.821-4032G>C (n.821-4032G>C)
c.27G>C (p.Met9Ile)
8g.43178113G>TCA371116980HGSNATc.891G>T (p.Met297Ile)
c.132G>T (p.Met44Ile)
c.821-4032G>T (n.821-4032G>T)
c.27G>T (p.Met9Ile)
 gnomAD v4
8g.43178114A>CCA371116981HGSNATc.892A>C (p.Thr298Pro)
c.133A>C (p.Thr45Pro)
c.821-4031A>C (n.821-4031A>C)
c.28A>C (p.Thr10Pro)
8g.43178114A>GCA371116983HGSNATc.892A>G (p.Thr298Ala)
c.133A>G (p.Thr45Ala)
c.821-4031A>G (n.821-4031A>G)
c.28A>G (p.Thr10Ala)
8g.43178114A>TCA371116985HGSNATc.892A>T (p.Thr298Ser)
c.133A>T (p.Thr45Ser)
c.821-4031A>T (n.821-4031A>T)
c.28A>T (p.Thr10Ser)
 gnomAD v4
8g.43178115C>ACA371116988HGSNATc.893C>A (p.Thr298Asn)
c.134C>A (p.Thr45Asn)
c.821-4030C>A (n.821-4030C>A)
c.29C>A (p.Thr10Asn)
8g.43178115C>GCA371116990HGSNATc.893C>G (p.Thr298Ser)
c.134C>G (p.Thr45Ser)
c.821-4030C>G (n.821-4030C>G)
c.29C>G (p.Thr10Ser)
8g.43178115C>TCA371116986HGSNATc.893C>T (p.Thr298Ile)
c.134C>T (p.Thr45Ile)
c.821-4030C>T (n.821-4030C>T)
c.29C>T (p.Thr10Ile)
8g.43178116T>ACA460572861HGSNATc.894T>A (p.Thr298=)
c.135T>A (p.Thr45=)
c.821-4029T>A (n.821-4029T>A)
c.30T>A (p.Thr10=)
8g.43178116T>CCA460572864HGSNATc.894T>C (p.Thr298=)
c.135T>C (p.Thr45=)
c.821-4029T>C (n.821-4029T>C)
c.30T>C (p.Thr10=)
8g.43178116T>GCA460572873HGSNATc.894T>G (p.Thr298=)
c.135T>G (p.Thr45=)
c.821-4029T>G (n.821-4029T>G)
c.30T>G (p.Thr10=)
8g.43178117T>ACA371116992HGSNATc.895T>A (p.Ser299Thr)
c.136T>A (p.Ser46Thr)
c.821-4028T>A (n.821-4028T>A)
c.31T>A (p.Ser11Thr)
8g.43178117T>CCA371116993HGSNATc.895T>C (p.Ser299Pro)
c.136T>C (p.Ser46Pro)
c.821-4028T>C (n.821-4028T>C)
c.31T>C (p.Ser11Pro)
8g.43178117T>GCA371116995HGSNATc.895T>G (p.Ser299Ala)
c.136T>G (p.Ser46Ala)
c.821-4028T>G (n.821-4028T>G)
c.31T>G (p.Ser11Ala)
8g.43178118C>ACA371116997HGSNATc.896C>A (p.Ser299Tyr)
c.137C>A (p.Ser46Tyr)
c.821-4027C>A (n.821-4027C>A)
c.32C>A (p.Ser11Tyr)
8g.43178118C>GCA371116998HGSNATc.896C>G (p.Ser299Cys)
c.137C>G (p.Ser46Cys)
c.821-4027C>G (n.821-4027C>G)
c.32C>G (p.Ser11Cys)
8g.43178118C>TCA371117000HGSNATc.896C>T (p.Ser299Phe)
c.137C>T (p.Ser46Phe)
c.821-4027C>T (n.821-4027C>T)
c.32C>T (p.Ser11Phe)
8g.43178119T>ACA460572894HGSNATc.897T>A (p.Ser299=)
c.138T>A (p.Ser46=)
c.1T>A
c.821-4026T>A (n.821-4026T>A)
c.33T>A (p.Ser11=)
8g.43178119T>CCA460572912HGSNATc.897T>C (p.Ser299=)
c.138T>C (p.Ser46=)
c.1T>C
c.821-4026T>C (n.821-4026T>C)
c.33T>C (p.Ser11=)
8g.43178119T>GCA460572916HGSNATc.897T>G (p.Ser299=)
c.138T>G (p.Ser46=)
c.1T>G
c.821-4026T>G (n.821-4026T>G)
c.33T>G (p.Ser11=)
8g.43178120A=CA1779771391HGSNATc.898A= (p.Ile300=)
c.139A= (p.Ile47=)
c.2A=
c.821-4025A= (n.821-4025A=)
c.34A= (p.Ile12=)
8g.43178120A>CCA371117001HGSNATc.898A>C (p.Ile300Leu)
c.139A>C (p.Ile47Leu)
c.2A>C
c.821-4025A>C (n.821-4025A>C)
c.34A>C (p.Ile12Leu)
8g.43178120A>GCA4736681HGSNATc.898A>G (p.Ile300Val)
c.139A>G (p.Ile47Val)
c.2A>G
c.821-4025A>G (n.821-4025A>G)
c.34A>G (p.Ile12Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.43178120A>TCA371117004HGSNATc.898A>T (p.Ile300Leu)
c.139A>T (p.Ile47Leu)
c.2A>T
c.821-4025A>T (n.821-4025A>T)
c.34A>T (p.Ile12Leu)
8g.43178121T>ACA371117005HGSNATc.899T>A (p.Ile300Lys)
c.140T>A (p.Ile47Lys)
c.3T>A
c.821-4024T>A (n.821-4024T>A)
c.35T>A (p.Ile12Lys)
8g.43178121T>CCA371117007HGSNATc.899T>C (p.Ile300Thr)
c.140T>C (p.Ile47Thr)
c.3T>C
c.821-4024T>C (n.821-4024T>C)
c.35T>C (p.Ile12Thr)
8g.43178121T>GCA371117008HGSNATc.899T>G (p.Ile300Arg)
c.140T>G (p.Ile47Arg)
c.3T>G
c.821-4024T>G (n.821-4024T>G)
c.35T>G (p.Ile12Arg)
8g.43178122A>CCA460572932HGSNATc.900A>C (p.Ile300=)
c.141A>C (p.Ile47=)
c.4A>C
c.821-4023A>C (n.821-4023A>C)
c.36A>C (p.Ile12=)
8g.43178122A>GCA371117010HGSNATc.900A>G (p.Ile300Met)
c.141A>G (p.Ile47Met)
c.4A>G
c.821-4023A>G (n.821-4023A>G)
c.36A>G (p.Ile12Met)
 ClinVar
8g.43178122A>TCA460572929HGSNATc.900A>T (p.Ile300=)
c.141A>T (p.Ile47=)
c.4A>T
c.821-4023A>T (n.821-4023A>T)
c.36A>T (p.Ile12=)
8g.43178123C>ACA371117014HGSNATc.901C>A (p.Leu301Met)
c.142C>A (p.Leu48Met)
c.5C>A
c.821-4022C>A (n.821-4022C>A)
c.37C>A (p.Leu13Met)
8g.43178123C=CA1779771392HGSNATc.901C= (p.Leu301=)
c.142C= (p.Leu48=)
c.5C=
c.821-4022C= (n.821-4022C=)
c.37C= (p.Leu13=)
8g.43178123C>GCA371117012HGSNATc.901C>G (p.Leu301Val)
c.142C>G (p.Leu48Val)
c.5C>G
c.821-4022C>G (n.821-4022C>G)
c.37C>G (p.Leu13Val)
8g.43178123C>TCA460572938HGSNATc.901C>T (p.Leu301=)
c.142C>T (p.Leu48=)
c.5C>T
c.821-4022C>T (n.821-4022C>T)
c.37C>T (p.Leu13=)
8g.43178123_43178124insCTGCA581929196HGSNATc.901_902insCTG (p.Leu301delinsProVal)
c.142_143insCTG (p.Leu48delinsProVal)
c.5_6insCTG
c.821-4022_821-4021insCTG (n.821-4022_821-4021insCTG)
c.37_38insCTG (p.Leu13delinsProVal)
 dbSNP gnomAD v2 gnomAD v4
8g.43178124T>ACA371117015HGSNATc.902T>A (p.Leu301Gln)
c.143T>A (p.Leu48Gln)
c.6T>A
c.821-4021T>A (n.821-4021T>A)
c.38T>A (p.Leu13Gln)
8g.43178124T>CCA371117017HGSNATc.902T>C (p.Leu301Pro)
c.143T>C (p.Leu48Pro)
c.6T>C
c.821-4021T>C (n.821-4021T>C)
c.38T>C (p.Leu13Pro)
8g.43178124T>GCA371117019HGSNATc.902T>G (p.Leu301Arg)
c.143T>G (p.Leu48Arg)
c.6T>G
c.821-4021T>G (n.821-4021T>G)
c.38T>G (p.Leu13Arg)
 dbSNP
8g.43178124T=CA1779771393HGSNATc.902T= (p.Leu301=)
c.143T= (p.Leu48=)
c.6T=
c.821-4021T= (n.821-4021T=)
c.38T= (p.Leu13=)
8g.43178125G>ACA460572945HGSNATc.903G>A (p.Leu301=)
c.144G>A (p.Leu48=)
c.7G>A
c.821-4020G>A (n.821-4020G>A)
c.39G>A (p.Leu13=)
 gnomAD v4
8g.43178125G>CCA460572947HGSNATc.903G>C (p.Leu301=)
c.144G>C (p.Leu48=)
c.7G>C
c.821-4020G>C (n.821-4020G>C)
c.39G>C (p.Leu13=)
8g.43178125G=CA1779771394HGSNATc.903G= (p.Leu301=)
c.144G= (p.Leu48=)
c.7G=
c.821-4020G= (n.821-4020G=)
c.39G= (p.Leu13=)
8g.43178125G>TCA460572951HGSNATc.903G>T (p.Leu301=)
c.144G>T (p.Leu48=)
c.7G>T
c.821-4020G>T (n.821-4020G>T)
c.39G>T (p.Leu13=)
 dbSNP
8g.43178126C>ACA371117020HGSNATc.904C>A (p.Gln302Lys)
c.145C>A (p.Gln49Lys)
c.8C>A
c.821-4019C>A (n.821-4019C>A)
c.40C>A (p.Gln14Lys)
 gnomAD v4
8g.43178126C>GCA371117022HGSNATc.904C>G (p.Gln302Glu)
c.145C>G (p.Gln49Glu)
c.8C>G
c.821-4019C>G (n.821-4019C>G)
c.40C>G (p.Gln14Glu)
8g.43178126C>TCA371117023HGSNATc.904C>T (p.Gln302Ter)
c.145C>T (p.Gln49Ter)
c.8C>T
c.821-4019C>T (n.821-4019C>T)
c.40C>T (p.Gln14Ter)
 gnomAD v4
8g.43178127A>CCA371117025HGSNATc.905A>C (p.Gln302Pro)
c.146A>C (p.Gln49Pro)
c.9A>C
c.821-4018A>C (n.821-4018A>C)
c.41A>C (p.Gln14Pro)
8g.43178127A>GCA371117027HGSNATc.905A>G (p.Gln302Arg)
c.146A>G (p.Gln49Arg)
c.9A>G
c.821-4018A>G (n.821-4018A>G)
c.41A>G (p.Gln14Arg)
8g.43178127A>TCA371117028HGSNATc.905A>T (p.Gln302Leu)
c.146A>T (p.Gln49Leu)
c.9A>T
c.821-4018A>T (n.821-4018A>T)
c.41A>T (p.Gln14Leu)
8g.43178128A=CA1779771395HGSNATc.906A= (p.Gln302=)
c.147A= (p.Gln49=)
c.10A=
c.821-4017A= (n.821-4017A=)
c.42A= (p.Gln14=)
8g.43178128A>CCA371117030HGSNATc.906A>C (p.Gln302His)
c.147A>C (p.Gln49His)
c.10A>C
c.821-4017A>C (n.821-4017A>C)
c.42A>C (p.Gln14His)
8g.43178128A>GCA460572969HGSNATc.906A>G (p.Gln302=)
c.147A>G (p.Gln49=)
c.10A>G
c.821-4017A>G (n.821-4017A>G)
c.42A>G (p.Gln14=)
 gnomAD v4
8g.43178128A>TCA10625514HGSNATc.906A>T (p.Gln302His)
c.147A>T (p.Gln49His)
c.10A>T
c.821-4017A>T (n.821-4017A>T)
c.42A>T (p.Gln14His)
 ClinVar dbSNP
8g.43178129C>ACA460572976HGSNATc.907C>A (p.Arg303=)
c.148C>A (p.Arg50=)
c.11C>A
c.821-4016C>A (n.821-4016C>A)
c.43C>A (p.Arg15=)
8g.43178129C=CA1779771396HGSNATc.907C= (p.Arg303=)
c.148C= (p.Arg50=)
c.11C=
c.821-4016C= (n.821-4016C=)
c.43C= (p.Arg15=)
8g.43178129C>GCA371117032HGSNATc.907C>G (p.Arg303Gly)
c.148C>G (p.Arg50Gly)
c.11C>G
c.821-4016C>G (n.821-4016C>G)
c.43C>G (p.Arg15Gly)
8g.43178129C>TCA4736682HGSNATc.907C>T (p.Arg303Trp)
c.148C>T (p.Arg50Trp)
c.11C>T
c.821-4016C>T (n.821-4016C>T)
c.43C>T (p.Arg15Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43178130G>ACA4736683HGSNATc.908G>A (p.Arg303Gln)
c.149G>A (p.Arg50Gln)
c.12G>A
c.821-4015G>A (n.821-4015G>A)
c.44G>A (p.Arg15Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43178130G>CCA371117035HGSNATc.908G>C (p.Arg303Pro)
c.149G>C (p.Arg50Pro)
c.12G>C
c.821-4015G>C (n.821-4015G>C)
c.44G>C (p.Arg15Pro)
 dbSNP
8g.43178130G=CA1779771397HGSNATc.908G= (p.Arg303=)
c.149G= (p.Arg50=)
c.12G=
c.821-4015G= (n.821-4015G=)
c.44G= (p.Arg15=)
8g.43178130G>TCA371117034HGSNATc.908G>T (p.Arg303Leu)
c.149G>T (p.Arg50Leu)
c.12G>T
c.821-4015G>T (n.821-4015G>T)
c.44G>T (p.Arg15Leu)
8g.43178131G>ACA4736684HGSNATc.909G>A (p.Arg303=)
c.150G>A (p.Arg50=)
c.13G>A
c.821-4014G>A (n.821-4014G>A)
c.45G>A (p.Arg15=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43178131G>CCA460572989HGSNATc.909G>C (p.Arg303=)
c.150G>C (p.Arg50=)
c.13G>C
c.821-4014G>C (n.821-4014G>C)
c.45G>C (p.Arg15=)
8g.43178131G=CA1779771398HGSNATc.909G= (p.Arg303=)
c.150G= (p.Arg50=)
c.13G=
c.821-4014G= (n.821-4014G=)
c.45G= (p.Arg15=)
8g.43178131G>TCA460572993HGSNATc.909G>T (p.Arg303=)
c.150G>T (p.Arg50=)
c.13G>T
c.821-4014G>T (n.821-4014G>T)
c.45G>T (p.Arg15=)
8g.43178132G>ACA371117039HGSNATc.910G>A (p.Gly304Arg)
c.151G>A (p.Gly51Arg)
c.14G>A
c.821-4013G>A (n.821-4013G>A)
c.46G>A (p.Gly16Arg)
 dbSNP
8g.43178132G>CCA371117037HGSNATc.910G>C (p.Gly304Arg)
c.151G>C (p.Gly51Arg)
c.14G>C
c.821-4013G>C (n.821-4013G>C)
c.46G>C (p.Gly16Arg)
8g.43178132G=CA1779771399HGSNATc.910G= (p.Gly304=)
c.151G= (p.Gly51=)
c.14G=
c.821-4013G= (n.821-4013G=)
c.46G= (p.Gly16=)
8g.43178132G>TCA371117041HGSNATc.910G>T (p.Gly304Trp)
c.151G>T (p.Gly51Trp)
c.14G>T
c.821-4013G>T (n.821-4013G>T)
c.46G>T (p.Gly16Trp)
 gnomAD v4
8g.43178133G>ACA371117042HGSNATc.911G>A (p.Gly304Glu)
c.152G>A (p.Gly51Glu)
c.15G>A
c.821-4012G>A (n.821-4012G>A)
c.47G>A (p.Gly16Glu)
8g.43178133G>CCA371117044HGSNATc.911G>C (p.Gly304Ala)
c.152G>C (p.Gly51Ala)
c.15G>C
c.821-4012G>C (n.821-4012G>C)
c.47G>C (p.Gly16Ala)
8g.43178133G>TCA371117046HGSNATc.911G>T (p.Gly304Val)
c.152G>T (p.Gly51Val)
c.15G>T
c.821-4012G>T (n.821-4012G>T)
c.47G>T (p.Gly16Val)
8g.43178134G>ACA4736685HGSNATc.912G>A (p.Gly304=)
c.153G>A (p.Gly51=)
c.16G>A
c.821-4011G>A (n.821-4011G>A)
c.48G>A (p.Gly16=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.43178134G>CCA460573008HGSNATc.912G>C (p.Gly304=)
c.153G>C (p.Gly51=)
c.16G>C
c.821-4011G>C (n.821-4011G>C)
c.48G>C (p.Gly16=)
8g.43178134G=CA1779771400HGSNATc.912G= (p.Gly304=)
c.153G= (p.Gly51=)
c.16G=
c.821-4011G= (n.821-4011G=)
c.48G= (p.Gly16=)
8g.43178134G>TCA4736686HGSNATc.912G>T (p.Gly304=)
c.153G>T (p.Gly51=)
c.16G>T
c.821-4011G>T (n.821-4011G>T)
c.48G>T (p.Gly16=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43178135T>ACA371117048HGSNATc.913T>A (p.Cys305Ser)
c.154T>A (p.Cys52Ser)
c.17T>A
c.821-4010T>A (n.821-4010T>A)
c.49T>A (p.Cys17Ser)
8g.43178135T>CCA371117050HGSNATc.913T>C (p.Cys305Arg)
c.154T>C (p.Cys52Arg)
c.17T>C
c.821-4010T>C (n.821-4010T>C)
c.49T>C (p.Cys17Arg)
 dbSNP gnomAD v2
8g.43178135T>GCA371117052HGSNATc.913T>G (p.Cys305Gly)
c.154T>G (p.Cys52Gly)
c.17T>G
c.821-4010T>G (n.821-4010T>G)
c.49T>G (p.Cys17Gly)
8g.43178135T=CA1779771401HGSNATc.913T= (p.Cys305=)
c.154T= (p.Cys52=)
c.17T=
c.821-4010T= (n.821-4010T=)
c.49T= (p.Cys17=)
8g.43178136G>ACA371117054HGSNATc.914G>A (p.Cys305Tyr)
c.155G>A (p.Cys52Tyr)
c.18G>A
c.821-4009G>A (n.821-4009G>A)
c.50G>A (p.Cys17Tyr)
 gnomAD v4
8g.43178136G>CCA371117055HGSNATc.914G>C (p.Cys305Ser)
c.155G>C (p.Cys52Ser)
c.18G>C
c.821-4009G>C (n.821-4009G>C)
c.50G>C (p.Cys17Ser)
8g.43178136G>TCA371117057HGSNATc.914G>T (p.Cys305Phe)
c.155G>T (p.Cys52Phe)
c.18G>T
c.821-4009G>T (n.821-4009G>T)
c.50G>T (p.Cys17Phe)
8g.43178137T>ACA371117058HGSNATc.915T>A (p.Cys305Ter)
c.156T>A (p.Cys52Ter)
c.19T>A
c.821-4008T>A (n.821-4008T>A)
c.51T>A (p.Cys17Ter)
8g.43178137T>CCA460573024HGSNATc.915T>C (p.Cys305=)
c.156T>C (p.Cys52=)
c.19T>C
c.821-4008T>C (n.821-4008T>C)
c.51T>C (p.Cys17=)
 dbSNP gnomAD v4
8g.43178137T>GCA371117059HGSNATc.915T>G (p.Cys305Trp)
c.156T>G (p.Cys52Trp)
c.19T>G
c.821-4008T>G (n.821-4008T>G)
c.51T>G (p.Cys17Trp)
8g.43178137T=CA1779771402HGSNATc.915T= (p.Cys305=)
c.156T= (p.Cys52=)
c.19T=
c.821-4008T= (n.821-4008T=)
c.51T= (p.Cys17=)
8g.43178138T>ACA371117065HGSNATc.916T>A (p.Ser306Thr)
c.157T>A (p.Ser53Thr)
c.20T>A
c.821-4007T>A (n.821-4007T>A)
c.52T>A (p.Ser18Thr)
8g.43178138T>CCA371117061HGSNATc.916T>C (p.Ser306Pro)
c.157T>C (p.Ser53Pro)
c.20T>C
c.821-4007T>C (n.821-4007T>C)
c.52T>C (p.Ser18Pro)
8g.43178138T>GCA371117063HGSNATc.916T>G (p.Ser306Ala)
c.157T>G (p.Ser53Ala)
c.20T>G
c.821-4007T>G (n.821-4007T>G)
c.52T>G (p.Ser18Ala)
8g.43178139C>ACA371117067HGSNATc.917C>A (p.Ser306Ter)
c.158C>A (p.Ser53Ter)
c.21C>A
c.821-4006C>A (n.821-4006C>A)
c.53C>A (p.Ser18Ter)
 gnomAD v4
8g.43178139C=CA1779771403HGSNATc.917C= (p.Ser306=)
c.158C= (p.Ser53=)
c.21C=
c.821-4006C= (n.821-4006C=)
c.53C= (p.Ser18=)
8g.43178139C>GCA371117069HGSNATc.917C>G (p.Ser306Ter)
c.158C>G (p.Ser53Ter)
c.21C>G
c.821-4006C>G (n.821-4006C>G)
c.53C>G (p.Ser18Ter)
 dbSNP gnomAD v2 gnomAD v4
8g.43178139C>TCA371117070HGSNATc.917C>T (p.Ser306Leu)
c.158C>T (p.Ser53Leu)
c.21C>T
c.821-4006C>T (n.821-4006C>T)
c.53C>T (p.Ser18Leu)
8g.43178140A=CA1779771404HGSNATc.918A= (p.Ser306=)
c.159A= (p.Ser53=)
c.22A=
c.821-4005A= (n.821-4005A=)
c.54A= (p.Ser18=)
8g.43178140A>CCA460573042HGSNATc.918A>C (p.Ser306=)
c.159A>C (p.Ser53=)
c.22A>C
c.821-4005A>C (n.821-4005A>C)
c.54A>C (p.Ser18=)
8g.43178140A>GCA460573044HGSNATc.918A>G (p.Ser306=)
c.159A>G (p.Ser53=)
c.22A>G
c.821-4005A>G (n.821-4005A>G)
c.54A>G (p.Ser18=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.43178140A>TCA460573048HGSNATc.918A>T (p.Ser306=)
c.159A>T (p.Ser53=)
c.22A>T
c.821-4005A>T (n.821-4005A>T)
c.54A>T (p.Ser18=)
8g.43178141A=CA1779771405HGSNATc.919A= (p.Lys307=)
c.160A= (p.Lys54=)
c.23A=
c.821-4004A= (n.821-4004A=)
c.55A= (p.Lys19=)
8g.43178141A>CCA371117072HGSNATc.919A>C (p.Lys307Gln)
c.160A>C (p.Lys54Gln)
c.23A>C
c.821-4004A>C (n.821-4004A>C)
c.55A>C (p.Lys19Gln)
8g.43178141A>GCA371117074HGSNATc.919A>G (p.Lys307Glu)
c.160A>G (p.Lys54Glu)
c.23A>G
c.821-4004A>G (n.821-4004A>G)
c.55A>G (p.Lys19Glu)
 dbSNP gnomAD v4
8g.43178141A>TCA371117075HGSNATc.919A>T (p.Lys307Ter)
c.160A>T (p.Lys54Ter)
c.23A>T
c.821-4004A>T (n.821-4004A>T)
c.55A>T (p.Lys19Ter)
8g.43178142A>CCA371117078HGSNATc.920A>C (p.Lys307Thr)
c.161A>C (p.Lys54Thr)
c.24A>C
c.821-4003A>C (n.821-4003A>C)
c.56A>C (p.Lys19Thr)
8g.43178142A>GCA371117079HGSNATc.920A>G (p.Lys307Arg)
c.161A>G (p.Lys54Arg)
c.24A>G
c.821-4003A>G (n.821-4003A>G)
c.56A>G (p.Lys19Arg)
8g.43178142A>TCA371117081HGSNATc.920A>T (p.Lys307Ile)
c.161A>T (p.Lys54Ile)
c.24A>T
c.821-4003A>T (n.821-4003A>T)
c.56A>T (p.Lys19Ile)
8g.43178143A>CCA371117083HGSNATc.921A>C (p.Lys307Asn)
c.162A>C (p.Lys54Asn)
c.25A>C
c.821-4002A>C (n.821-4002A>C)
c.57A>C (p.Lys19Asn)
8g.43178143A>GCA460573061HGSNATc.921A>G (p.Lys307=)
c.162A>G (p.Lys54=)
c.25A>G
c.821-4002A>G (n.821-4002A>G)
c.57A>G (p.Lys19=)
8g.43178143A>TCA371117084HGSNATc.921A>T (p.Lys307Asn)
c.162A>T (p.Lys54Asn)
c.25A>T
c.821-4002A>T (n.821-4002A>T)
c.57A>T (p.Lys19Asn)
8g.43178146_43178151delCA2687154553HGSNATc.924_929del (p.Phe308_Arg309del)
c.165_170del (p.Phe55_Arg56del)
c.28_33del
c.821-3999_821-3994del (n.821-3999_821-3994del)
c.60_65del (p.Phe20_Arg21del)
 gnomAD v4
8g.43178144T>ACA371117089HGSNATc.922T>A (p.Phe308Ile)
c.163T>A (p.Phe55Ile)
c.26T>A
c.821-4001T>A (n.821-4001T>A)
c.58T>A (p.Phe20Ile)
8g.43178144T>CCA371117087HGSNATc.922T>C (p.Phe308Leu)
c.163T>C (p.Phe55Leu)
c.26T>C
c.821-4001T>C (n.821-4001T>C)
c.58T>C (p.Phe20Leu)
 gnomAD v4
8g.43178144T>GCA371117086HGSNATc.922T>G (p.Phe308Val)
c.163T>G (p.Phe55Val)
c.26T>G
c.821-4001T>G (n.821-4001T>G)
c.58T>G (p.Phe20Val)
8g.43178145T>ACA4736687HGSNATc.923T>A (p.Phe308Tyr)
c.164T>A (p.Phe55Tyr)
c.27T>A
c.821-4000T>A (n.821-4000T>A)
c.59T>A (p.Phe20Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.43178145T>CCA371117091HGSNATc.923T>C (p.Phe308Ser)
c.164T>C (p.Phe55Ser)
c.27T>C
c.821-4000T>C (n.821-4000T>C)
c.59T>C (p.Phe20Ser)
8g.43178145T>GCA371117092HGSNATc.923T>G (p.Phe308Cys)
c.164T>G (p.Phe55Cys)
c.27T>G
c.821-4000T>G (n.821-4000T>G)
c.59T>G (p.Phe20Cys)
8g.43178145T=CA1779771406HGSNATc.923T= (p.Phe308=)
c.164T= (p.Phe55=)
c.27T=
c.821-4000T= (n.821-4000T=)
c.59T= (p.Phe20=)
8g.43178146C>ACA371117094HGSNATc.924C>A (p.Phe308Leu)
c.165C>A (p.Phe55Leu)
c.28C>A
c.821-3999C>A (n.821-3999C>A)
c.60C>A (p.Phe20Leu)
8g.43178146C>GCA371117096HGSNATc.924C>G (p.Phe308Leu)
c.165C>G (p.Phe55Leu)
c.28C>G
c.821-3999C>G (n.821-3999C>G)
c.60C>G (p.Phe20Leu)
8g.43178146C>TCA460573076HGSNATc.924C>T (p.Phe308=)
c.165C>T (p.Phe55=)
c.28C>T
c.821-3999C>T (n.821-3999C>T)
c.60C>T (p.Phe20=)
8g.43178147A=CA1779771407HGSNATc.925A= (p.Arg309=)
c.166A= (p.Arg56=)
c.29A=
c.821-3998A= (n.821-3998A=)
c.61A= (p.Arg21=)
8g.43178147A>CCA460573079HGSNATc.925A>C (p.Arg309=)
c.166A>C (p.Arg56=)
c.29A>C
c.821-3998A>C (n.821-3998A>C)
c.61A>C (p.Arg21=)
8g.43178147A>GCA371117098HGSNATc.925A>G (p.Arg309Gly)
c.166A>G (p.Arg56Gly)
c.29A>G
c.821-3998A>G (n.821-3998A>G)
c.61A>G (p.Arg21Gly)
8g.43178147A>TCA371117099HGSNATc.925A>T (p.Arg309Ter)
c.166A>T (p.Arg56Ter)
c.29A>T
c.821-3998A>T (n.821-3998A>T)
c.61A>T (p.Arg21Ter)
 ClinVar dbSNP gnomAD v4
8g.43178148G>ACA371117101HGSNATc.926G>A (p.Arg309Lys)
c.167G>A (p.Arg56Lys)
c.30G>A
c.821-3997G>A (n.821-3997G>A)
c.62G>A (p.Arg21Lys)
8g.43178148G>CCA371117105HGSNATc.926G>C (p.Arg309Thr)
c.167G>C (p.Arg56Thr)
c.30G>C
c.821-3997G>C (n.821-3997G>C)
c.62G>C (p.Arg21Thr)
 gnomAD v4
8g.43178148G>TCA371117103HGSNATc.926G>T (p.Arg309Ile)
c.167G>T (p.Arg56Ile)
c.30G>T
c.821-3997G>T (n.821-3997G>T)
c.62G>T (p.Arg21Ile)
8g.43178149A>CCA371117107HGSNATc.927A>C (p.Arg309Ser)
c.168A>C (p.Arg56Ser)
c.31A>C
c.821-3996A>C (n.821-3996A>C)
c.63A>C (p.Arg21Ser)
8g.43178149A>GCA460573092HGSNATc.927A>G (p.Arg309=)
c.168A>G (p.Arg56=)
c.31A>G
c.821-3996A>G (n.821-3996A>G)
c.63A>G (p.Arg21=)
8g.43178149A>TCA371117108HGSNATc.927A>T (p.Arg309Ser)
c.168A>T (p.Arg56Ser)
c.31A>T
c.821-3996A>T (n.821-3996A>T)
c.63A>T (p.Arg21Ser)
8g.43178150T>ACA371117110HGSNATc.928T>A (p.Leu310Met)
c.169T>A (p.Leu57Met)
c.32T>A
c.821-3995T>A (n.821-3995T>A)
c.64T>A (p.Leu22Met)
8g.43178150T>CCA460573097HGSNATc.928T>C (p.Leu310=)
c.169T>C (p.Leu57=)
c.32T>C
c.821-3995T>C (n.821-3995T>C)
c.64T>C (p.Leu22=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43178150T>GCA371117113HGSNATc.928T>G (p.Leu310Val)
c.169T>G (p.Leu57Val)
c.32T>G
c.821-3995T>G (n.821-3995T>G)
c.64T>G (p.Leu22Val)
8g.43178150T=CA1779771408HGSNATc.928T= (p.Leu310=)
c.169T= (p.Leu57=)
c.32T=
c.821-3995T= (n.821-3995T=)
c.64T= (p.Leu22=)
8g.43178151T>ACA371117114HGSNATc.929T>A (p.Leu310Ter)
c.170T>A (p.Leu57Ter)
c.33T>A
c.821-3994T>A (n.821-3994T>A)
c.65T>A (p.Leu22Ter)
8g.43178151T>CCA371117119HGSNATc.929T>C (p.Leu310Ser)
c.170T>C (p.Leu57Ser)
c.33T>C
c.821-3994T>C (n.821-3994T>C)
c.65T>C (p.Leu22Ser)
 dbSNP
8g.43178151T>GCA371117117HGSNATc.929T>G (p.Leu310Trp)
c.170T>G (p.Leu57Trp)
c.33T>G
c.821-3994T>G (n.821-3994T>G)
c.65T>G (p.Leu22Trp)
8g.43178151T=CA1779771409HGSNATc.929T= (p.Leu310=)
c.170T= (p.Leu57=)
c.33T=
c.821-3994T= (n.821-3994T=)
c.65T= (p.Leu22=)
8g.43178152G>ACA460573110HGSNATc.930G>A (p.Leu310=)
c.171G>A (p.Leu57=)
c.34G>A
c.821-3993G>A (n.821-3993G>A)
c.66G>A (p.Leu22=)
8g.43178152G>CCA371117121HGSNATc.930G>C (p.Leu310Phe)
c.171G>C (p.Leu57Phe)
c.34G>C
c.821-3993G>C (n.821-3993G>C)
c.66G>C (p.Leu22Phe)
8g.43178152G>TCA371117122HGSNATc.930G>T (p.Leu310Phe)
c.171G>T (p.Leu57Phe)
c.34G>T
c.821-3993G>T (n.821-3993G>T)
c.66G>T (p.Leu22Phe)
8g.43178153C>ACA371117125HGSNATc.931C>A (p.Leu311Met)
c.172C>A (p.Leu58Met)
c.35C>A
c.821-3992C>A (n.821-3992C>A)
c.67C>A (p.Leu23Met)
8g.43178153C>GCA371117127HGSNATc.931C>G (p.Leu311Val)
c.172C>G (p.Leu58Val)
c.35C>G
c.821-3992C>G (n.821-3992C>G)
c.67C>G (p.Leu23Val)
8g.43178153C>TCA460573115HGSNATc.931C>T (p.Leu311=)
c.172C>T (p.Leu58=)
c.35C>T
c.821-3992C>T (n.821-3992C>T)
c.67C>T (p.Leu23=)
8g.43178154delCA2580078322HGSNATc.932del (p.Leu311ArgfsTer11)
c.173del (p.Leu58ArgfsTer11)
c.36del
c.821-3991del (n.821-3991del)
c.68del (p.Leu23ArgfsTer11)
 ClinVar
8g.43178154T>ACA371117130HGSNATc.932T>A (p.Leu311Gln)
c.173T>A (p.Leu58Gln)
c.36T>A
c.821-3991T>A (n.821-3991T>A)
c.68T>A (p.Leu23Gln)
8g.43178154T>CCA371117132HGSNATc.932T>C (p.Leu311Pro)
c.173T>C (p.Leu58Pro)
c.36T>C
c.821-3991T>C (n.821-3991T>C)
c.68T>C (p.Leu23Pro)
8g.43178154T>GCA371117134HGSNATc.932T>G (p.Leu311Arg)
c.173T>G (p.Leu58Arg)
c.36T>G
c.821-3991T>G (n.821-3991T>G)
c.68T>G (p.Leu23Arg)
8g.43178155G>ACA460573123HGSNATc.933G>A (p.Leu311=)
c.174G>A (p.Leu58=)
c.37G>A
c.821-3990G>A (n.821-3990G>A)
c.69G>A (p.Leu23=)
 gnomAD v4
8g.43178155G>CCA460573126HGSNATc.933G>C (p.Leu311=)
c.174G>C (p.Leu58=)
c.37G>C
c.821-3990G>C (n.821-3990G>C)
c.69G>C (p.Leu23=)
8g.43178155G=CA1779771410HGSNATc.933G= (p.Leu311=)
c.174G= (p.Leu58=)
c.37G=
c.821-3990G= (n.821-3990G=)
c.69G= (p.Leu23=)
8g.43178155G>TCA460573128HGSNATc.933G>T (p.Leu311=)
c.174G>T (p.Leu58=)
c.37G>T
c.821-3990G>T (n.821-3990G>T)
c.69G>T (p.Leu23=)
 ClinVar dbSNP gnomAD v4
8g.43178156G>ACA371117137HGSNATc.934G>A (p.Gly312Arg)
c.175G>A (p.Gly59Arg)
c.38G>A
c.821-3989G>A (n.821-3989G>A)
c.70G>A (p.Gly24Arg)
8g.43178156G>CCA371117139HGSNATc.934G>C (p.Gly312Arg)
c.175G>C (p.Gly59Arg)
c.38G>C
c.821-3989G>C (n.821-3989G>C)
c.70G>C (p.Gly24Arg)
8g.43178156G>TCA371117141HGSNATc.934G>T (p.Gly312Trp)
c.175G>T (p.Gly59Trp)
c.38G>T
c.821-3989G>T (n.821-3989G>T)
c.70G>T (p.Gly24Trp)
8g.43178157G>ACA371117148HGSNATc.935G>A (p.Gly312Glu)
c.176G>A (p.Gly59Glu)
c.39G>A
c.821-3988G>A (n.821-3988G>A)
c.71G>A (p.Gly24Glu)
8g.43178157G>CCA371117147HGSNATc.935G>C (p.Gly312Ala)
c.176G>C (p.Gly59Ala)
c.39G>C
c.821-3988G>C (n.821-3988G>C)
c.71G>C (p.Gly24Ala)
8g.43178157G>TCA371117144HGSNATc.935G>T (p.Gly312Val)
c.176G>T (p.Gly59Val)
c.39G>T
c.821-3988G>T (n.821-3988G>T)
c.71G>T (p.Gly24Val)
8g.43178158G>ACA460573146HGSNATc.936G>A (p.Gly312=)
c.177G>A (p.Gly59=)
c.40G>A
c.821-3987G>A (n.821-3987G>A)
c.72G>A (p.Gly24=)
8g.43178158G>CCA460573147HGSNATc.936G>C (p.Gly312=)
c.177G>C (p.Gly59=)
c.40G>C
c.821-3987G>C (n.821-3987G>C)
c.72G>C (p.Gly24=)
8g.43178158G=CA1779771411HGSNATc.936G= (p.Gly312=)
c.177G= (p.Gly59=)
c.40G=
c.821-3987G= (n.821-3987G=)
c.72G= (p.Gly24=)
8g.43178158G>TCA460573150HGSNATc.936G>T (p.Gly312=)
c.177G>T (p.Gly59=)
c.40G>T
c.821-3987G>T (n.821-3987G>T)
c.72G>T (p.Gly24=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.43178159A>CCA371117151HGSNATc.937A>C (p.Lys313Gln)
c.178A>C (p.Lys60Gln)
c.41A>C
c.821-3986A>C (n.821-3986A>C)
c.73A>C (p.Lys25Gln)
8g.43178159A>GCA371117155HGSNATc.937A>G (p.Lys313Glu)
c.178A>G (p.Lys60Glu)
c.41A>G
c.821-3986A>G (n.821-3986A>G)
c.73A>G (p.Lys25Glu)
8g.43178159A>TCA371117153HGSNATc.937A>T (p.Lys313Ter)
c.178A>T (p.Lys60Ter)
c.41A>T
c.821-3986A>T (n.821-3986A>T)
c.73A>T (p.Lys25Ter)
8g.43178160A>CCA371117157HGSNATc.938A>C (p.Lys313Thr)
c.179A>C (p.Lys60Thr)
c.42A>C
c.821-3985A>C (n.821-3985A>C)
c.74A>C (p.Lys25Thr)
8g.43178160A>GCA371117159HGSNATc.938A>G (p.Lys313Arg)
c.179A>G (p.Lys60Arg)
c.42A>G
c.821-3985A>G (n.821-3985A>G)
c.74A>G (p.Lys25Arg)
 gnomAD v4 COSMIC
8g.43178160A>TCA371117160HGSNATc.938A>T (p.Lys313Met)
c.179A>T (p.Lys60Met)
c.42A>T
c.821-3985A>T (n.821-3985A>T)
c.74A>T (p.Lys25Met)
8g.43178161G>ACA460573165HGSNATc.939G>A (p.Lys313=)
c.180G>A (p.Lys60=)
c.43G>A
c.821-3984G>A (n.821-3984G>A)
c.75G>A (p.Lys25=)
8g.43178161G>CCA371117164HGSNATc.939G>C (p.Lys313Asn)
c.180G>C (p.Lys60Asn)
c.43G>C
c.821-3984G>C (n.821-3984G>C)
c.75G>C (p.Lys25Asn)
8g.43178161G>TCA371117165HGSNATc.939G>T (p.Lys313Asn)
c.180G>T (p.Lys60Asn)
c.43G>T
c.821-3984G>T (n.821-3984G>T)
c.75G>T (p.Lys25Asn)
8g.43178162A=CA1779771412HGSNATc.940A= (p.Ile314=)
c.181A= (p.Ile61=)
c.44A=
c.821-3983A= (n.821-3983A=)
c.76A= (p.Ile26=)
8g.43178162A>CCA371117167HGSNATc.940A>C (p.Ile314Leu)
c.181A>C (p.Ile61Leu)
c.44A>C
c.821-3983A>C (n.821-3983A>C)
c.76A>C (p.Ile26Leu)
8g.43178162A>GCA371117168HGSNATc.940A>G (p.Ile314Val)
c.181A>G (p.Ile61Val)
c.44A>G
c.821-3983A>G (n.821-3983A>G)
c.76A>G (p.Ile26Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43178162A>TCA371117171HGSNATc.940A>T (p.Ile314Phe)
c.181A>T (p.Ile61Phe)
c.44A>T
c.821-3983A>T (n.821-3983A>T)
c.76A>T (p.Ile26Phe)
8g.43178163T>ACA371117174HGSNATc.941T>A (p.Ile314Asn)
c.182T>A (p.Ile61Asn)
c.45T>A
c.821-3982T>A (n.821-3982T>A)
c.77T>A (p.Ile26Asn)
8g.43178163T>CCA371117177HGSNATc.941T>C (p.Ile314Thr)
c.182T>C (p.Ile61Thr)
c.45T>C
c.821-3982T>C (n.821-3982T>C)
c.77T>C (p.Ile26Thr)
 gnomAD v4
8g.43178163T>GCA371117179HGSNATc.941T>G (p.Ile314Ser)
c.182T>G (p.Ile61Ser)
c.45T>G
c.821-3982T>G (n.821-3982T>G)
c.77T>G (p.Ile26Ser)
8g.43178163_43178164insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGGCA2550981713HGSNATc.941_942insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG (p.Ala315ProfsTer2)
c.182_183insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG (p.Ala62ProfsTer2)
c.45_46insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG
c.821-3982_821-3981insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG (n.821-3982_821-3981insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG)
c.77_78insCCCATAATAAATACAAACCTAAAAAGAATCTAGTTATTAATAGG (p.Ala27ProfsTer2)
8g.43178164T>ACA460573189HGSNATc.942T>A (p.Ile314=)
c.183T>A (p.Ile61=)
c.46T>A
c.821-3981T>A (n.821-3981T>A)
c.78T>A (p.Ile26=)
8g.43178164T>CCA460573185HGSNATc.942T>C (p.Ile314=)
c.183T>C (p.Ile61=)
c.46T>C
c.821-3981T>C (n.821-3981T>C)
c.78T>C (p.Ile26=)
8g.43178164T>GCA371117181HGSNATc.942T>G (p.Ile314Met)
c.183T>G (p.Ile61Met)
c.46T>G
c.821-3981T>G (n.821-3981T>G)
c.78T>G (p.Ile26Met)
8g.43178165G>ACA371117184HGSNATc.943G>A (p.Ala315Thr)
c.184G>A (p.Ala62Thr)
c.47G>A
c.821-3980G>A (n.821-3980G>A)
c.79G>A (p.Ala27Thr)
8g.43178165G>CCA371117188HGSNATc.943G>C (p.Ala315Pro)
c.184G>C (p.Ala62Pro)
c.47G>C
c.821-3980G>C (n.821-3980G>C)
c.79G>C (p.Ala27Pro)
8g.43178165G>TCA371117186HGSNATc.943G>T (p.Ala315Ser)
c.184G>T (p.Ala62Ser)
c.47G>T
c.821-3980G>T (n.821-3980G>T)
c.79G>T (p.Ala27Ser)
 gnomAD v4
8g.43178166C>ACA371117190HGSNATc.944C>A (p.Ala315Glu)
c.185C>A (p.Ala62Glu)
c.48C>A
c.821-3979C>A (n.821-3979C>A)
c.80C>A (p.Ala27Glu)
8g.43178166C>GCA371117193HGSNATc.944C>G (p.Ala315Gly)
c.185C>G (p.Ala62Gly)
c.48C>G
c.821-3979C>G (n.821-3979C>G)
c.80C>G (p.Ala27Gly)
8g.43178166C>TCA371117196HGSNATc.944C>T (p.Ala315Val)
c.185C>T (p.Ala62Val)
c.48C>T
c.821-3979C>T (n.821-3979C>T)
c.80C>T (p.Ala27Val)
8g.43178167A=CA1779771413HGSNATc.945A= (p.Ala315=)
c.186A= (p.Ala62=)
c.49A=
c.821-3978A= (n.821-3978A=)
c.81A= (p.Ala27=)
8g.43178167A>CCA460573204HGSNATc.945A>C (p.Ala315=)
c.186A>C (p.Ala62=)
c.49A>C
c.821-3978A>C (n.821-3978A>C)
c.81A>C (p.Ala27=)
8g.43178167A>GCA4736688HGSNATc.945A>G (p.Ala315=)
c.186A>G (p.Ala62=)
c.49A>G
c.821-3978A>G (n.821-3978A>G)
c.81A>G (p.Ala27=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43178167A>TCA460573209HGSNATc.945A>T (p.Ala315=)
c.186A>T (p.Ala62=)
c.49A>T
c.821-3978A>T (n.821-3978A>T)
c.81A>T (p.Ala27=)
 ClinVar
8g.43178167_43178168delinsTCCA2580078324HGSNATc.945_946delinsTC (p.Trp316Arg)
c.186_187delinsTC (p.Trp63Arg)
c.49_50delinsTC
c.821-3978_821-3977delinsTC (n.821-3978_821-3977delinsTC)
c.81_82delinsTC (p.Trp28Arg)
 ClinVar
8g.43178168T>ACA4736689HGSNATc.946T>A (p.Trp316Arg)
c.187T>A (p.Trp63Arg)
c.50T>A
c.821-3977T>A (n.821-3977T>A)
c.82T>A (p.Trp28Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.43178168T>CCA371117201HGSNATc.946T>C (p.Trp316Arg)
c.187T>C (p.Trp63Arg)
c.50T>C
c.821-3977T>C (n.821-3977T>C)
c.82T>C (p.Trp28Arg)
 COSMIC
8g.43178168T>GCA371117203HGSNATc.946T>G (p.Trp316Gly)
c.187T>G (p.Trp63Gly)
c.50T>G
c.821-3977T>G (n.821-3977T>G)
c.82T>G (p.Trp28Gly)
8g.43178168T=CA1779771414HGSNATc.946T= (p.Trp316=)
c.187T= (p.Trp63=)
c.50T=
c.821-3977T= (n.821-3977T=)
c.82T= (p.Trp28=)
8g.43178169G>ACA371117205HGSNATc.947G>A (p.Trp316Ter)
c.188G>A (p.Trp63Ter)
c.51G>A
c.821-3976G>A (n.821-3976G>A)
c.83G>A (p.Trp28Ter)
 ClinVar dbSNP gnomAD v4
8g.43178169G>CCA371117208HGSNATc.947G>C (p.Trp316Ser)
c.188G>C (p.Trp63Ser)
c.51G>C
c.821-3976G>C (n.821-3976G>C)
c.83G>C (p.Trp28Ser)
8g.43178169G=CA1779771415HGSNATc.947G= (p.Trp316=)
c.188G= (p.Trp63=)
c.51G=
c.821-3976G= (n.821-3976G=)
c.83G= (p.Trp28=)
8g.43178169G>TCA371117209HGSNATc.947G>T (p.Trp316Leu)
c.188G>T (p.Trp63Leu)
c.51G>T
c.821-3976G>T (n.821-3976G>T)
c.83G>T (p.Trp28Leu)
8g.43178170G>ACA371117214HGSNATc.948G>A (p.Trp316Ter)
c.189G>A (p.Trp63Ter)
c.52G>A
c.821-3975G>A (n.821-3975G>A)
c.84G>A (p.Trp28Ter)
8g.43178170G>CCA371117226HGSNATc.948G>C (p.Trp316Cys)
c.189G>C (p.Trp63Cys)
c.52G>C
c.821-3975G>C (n.821-3975G>C)
c.84G>C (p.Trp28Cys)
8g.43178170G>TCA371117211HGSNATc.948G>T (p.Trp316Cys)
c.189G>T (p.Trp63Cys)
c.52G>T
c.821-3975G>T (n.821-3975G>T)
c.84G>T (p.Trp28Cys)
8g.43178171A>CCA460573230HGSNATc.949A>C (p.Arg317=)
c.190A>C (p.Arg64=)
c.53A>C
c.821-3974A>C (n.821-3974A>C)
c.85A>C (p.Arg29=)
8g.43178171A>GCA371117227HGSNATc.949A>G (p.Arg317Gly)
c.190A>G (p.Arg64Gly)
c.53A>G
c.821-3974A>G (n.821-3974A>G)
c.85A>G (p.Arg29Gly)
8g.43178171A>TCA371117229HGSNATc.949A>T (p.Arg317Trp)
c.190A>T (p.Arg64Trp)
c.53A>T
c.821-3974A>T (n.821-3974A>T)
c.85A>T (p.Arg29Trp)
8g.43178172G>ACA371117231HGSNATc.950G>A (p.Arg317Lys)
c.191G>A (p.Arg64Lys)
c.54G>A
c.821-3973G>A (n.821-3973G>A)
c.86G>A (p.Arg29Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.43178172G>CCA371117234HGSNATc.950G>C (p.Arg317Thr)
c.191G>C (p.Arg64Thr)
c.54G>C
c.821-3973G>C (n.821-3973G>C)
c.86G>C (p.Arg29Thr)
8g.43178172G=CA1779771416HGSNATc.950G= (p.Arg317=)
c.191G= (p.Arg64=)
c.54G=
c.821-3973G= (n.821-3973G=)
c.86G= (p.Arg29=)
8g.43178172G>TCA371117236HGSNATc.950G>T (p.Arg317Met)
c.191G>T (p.Arg64Met)
c.54G>T
c.821-3973G>T (n.821-3973G>T)
c.86G>T (p.Arg29Met)
8g.43178173G>ACA460573242HGSNATc.951G>A (p.Arg317=)
c.192G>A (p.Arg64=)
c.55G>A
c.821-3972G>A (n.821-3972G>A)
c.87G>A (p.Arg29=)
 ClinVar dbSNP
8g.43178173G>CCA371117238HGSNATc.951G>C (p.Arg317Ser)
c.192G>C (p.Arg64Ser)
c.55G>C
c.821-3972G>C (n.821-3972G>C)
c.87G>C (p.Arg29Ser)
 ClinVar dbSNP
8g.43178173G>TCA371117240HGSNATc.951G>T (p.Arg317Ser)
c.192G>T (p.Arg64Ser)
c.55G>T
c.821-3972G>T (n.821-3972G>T)
c.87G>T (p.Arg29Ser)
8g.43178174A>CCA371117242HGSNATc.952A>C (p.Ser318Arg)
c.193A>C (p.Ser65Arg)
c.56A>C
c.821-3971A>C (n.821-3971A>C)
c.88A>C (p.Ser30Arg)
 ClinVar
8g.43178174A>GCA371117245HGSNATc.952A>G (p.Ser318Gly)
c.193A>G (p.Ser65Gly)
c.56A>G
c.821-3971A>G (n.821-3971A>G)
c.88A>G (p.Ser30Gly)
 gnomAD v4
8g.43178174A>TCA371117246HGSNATc.952A>T (p.Ser318Cys)
c.193A>T (p.Ser65Cys)
c.56A>T
c.821-3971A>T (n.821-3971A>T)
c.88A>T (p.Ser30Cys)
8g.43178175G>ACA176068210HGSNATc.953G>A (p.Ser318Asn)
c.194G>A (p.Ser65Asn)
c.57G>A
c.821-3970G>A (n.821-3970G>A)
c.89G>A (p.Ser30Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.43178175G>CCA371117249HGSNATc.953G>C (p.Ser318Thr)
c.194G>C (p.Ser65Thr)
c.57G>C
c.821-3970G>C (n.821-3970G>C)
c.89G>C (p.Ser30Thr)
8g.43178175G=CA1779771417HGSNATc.953G= (p.Ser318=)
c.194G= (p.Ser65=)
c.57G=
c.821-3970G= (n.821-3970G=)
c.89G= (p.Ser30=)
8g.43178175G>TCA371117250HGSNATc.953G>T (p.Ser318Ile)
c.194G>T (p.Ser65Ile)
c.57G>T
c.821-3970G>T (n.821-3970G>T)
c.89G>T (p.Ser30Ile)
 COSMIC
8g.43178176T>ACA371117256HGSNATc.954T>A (p.Ser318Arg)
c.195T>A (p.Ser65Arg)
c.58T>A
c.821-3969T>A (n.821-3969T>A)
c.90T>A (p.Ser30Arg)
8g.43178176T>CCA460573264HGSNATc.954T>C (p.Ser318=)
c.195T>C (p.Ser65=)
c.58T>C
c.821-3969T>C (n.821-3969T>C)
c.90T>C (p.Ser30=)
8g.43178176T>GCA371117253HGSNATc.954T>G (p.Ser318Arg)
c.195T>G (p.Ser65Arg)
c.58T>G
c.821-3969T>G (n.821-3969T>G)
c.90T>G (p.Ser30Arg)
8g.43178177T>ACA371117259HGSNATc.955T>A (p.Phe319Ile)
c.196T>A (p.Phe66Ile)
c.59T>A
c.821-3968T>A (n.821-3968T>A)
c.91T>A (p.Phe31Ile)
8g.43178177T>CCA371117260HGSNATc.955T>C (p.Phe319Leu)
c.196T>C (p.Phe66Leu)
c.59T>C
c.821-3968T>C (n.821-3968T>C)
c.91T>C (p.Phe31Leu)
8g.43178177T>GCA371117262HGSNATc.955T>G (p.Phe319Val)
c.196T>G (p.Phe66Val)
c.59T>G
c.821-3968T>G (n.821-3968T>G)
c.91T>G (p.Phe31Val)
8g.43178178T>ACA371117264HGSNATc.956T>A (p.Phe319Tyr)
c.197T>A (p.Phe66Tyr)
c.60T>A
c.821-3967T>A (n.821-3967T>A)
c.92T>A (p.Phe31Tyr)
 dbSNP gnomAD v4
8g.43178178T>CCA371117266HGSNATc.956T>C (p.Phe319Ser)
c.197T>C (p.Phe66Ser)
c.60T>C
c.821-3967T>C (n.821-3967T>C)
c.92T>C (p.Phe31Ser)
8g.43178178T>GCA371117267HGSNATc.956T>G (p.Phe319Cys)
c.197T>G (p.Phe66Cys)
c.60T>G
c.821-3967T>G (n.821-3967T>G)
c.92T>G (p.Phe31Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43178178T=CA1779771418HGSNATc.956T= (p.Phe319=)
c.197T= (p.Phe66=)
c.60T=
c.821-3967T= (n.821-3967T=)
c.92T= (p.Phe31=)
8g.43178179C>ACA371117269HGSNATc.957C>A (p.Phe319Leu)
c.198C>A (p.Phe66Leu)
c.61C>A
c.821-3966C>A (n.821-3966C>A)
c.93C>A (p.Phe31Leu)
8g.43178179C>GCA371117271HGSNATc.957C>G (p.Phe319Leu)
c.198C>G (p.Phe66Leu)
c.61C>G
c.821-3966C>G (n.821-3966C>G)
c.93C>G (p.Phe31Leu)
8g.43178179C>TCA460573280HGSNATc.957C>T (p.Phe319=)
c.198C>T (p.Phe66=)
c.61C>T
c.821-3966C>T (n.821-3966C>T)
c.93C>T (p.Phe31=)
 gnomAD v4
8g.43178180C>ACA371117273HGSNATc.958C>A (p.Leu320Met)
c.199C>A (p.Leu67Met)
c.62C>A
c.821-3965C>A (n.821-3965C>A)
c.94C>A (p.Leu32Met)
8g.43178180C>GCA371117274HGSNATc.958C>G (p.Leu320Val)
c.199C>G (p.Leu67Val)
c.62C>G
c.821-3965C>G (n.821-3965C>G)
c.94C>G (p.Leu32Val)
8g.43178180C>TCA460573283HGSNATc.958C>T (p.Leu320=)
c.199C>T (p.Leu67=)
c.62C>T
c.821-3965C>T (n.821-3965C>T)
c.94C>T (p.Leu32=)
8g.43178181delCA2580078325HGSNATc.959del (p.Leu320ArgfsTer2)
c.200del (p.Leu67ArgfsTer2)
c.63del
c.821-3964del (n.821-3964del)
c.95del (p.Leu32ArgfsTer2)
 ClinVar
8g.43178181T>ACA371117275HGSNATc.959T>A (p.Leu320Gln)
c.200T>A (p.Leu67Gln)
c.63T>A
c.821-3964T>A (n.821-3964T>A)
c.95T>A (p.Leu32Gln)
8g.43178181T>CCA371117277HGSNATc.959T>C (p.Leu320Pro)
c.200T>C (p.Leu67Pro)
c.63T>C
c.821-3964T>C (n.821-3964T>C)
c.95T>C (p.Leu32Pro)
8g.43178181T>GCA371117279HGSNATc.959T>G (p.Leu320Arg)
c.200T>G (p.Leu67Arg)
c.63T>G
c.821-3964T>G (n.821-3964T>G)
c.95T>G (p.Leu32Arg)
8g.43178182G>ACA460573294HGSNATc.960G>A (p.Leu320=)
c.201G>A (p.Leu67=)
c.64G>A
c.821-3963G>A (n.821-3963G>A)
c.96G>A (p.Leu32=)
8g.43178182G>CCA460573296HGSNATc.960G>C (p.Leu320=)
c.201G>C (p.Leu67=)
c.64G>C
c.821-3963G>C (n.821-3963G>C)
c.96G>C (p.Leu32=)
8g.43178182G>TCA460573298HGSNATc.960G>T (p.Leu320=)
c.201G>T (p.Leu67=)
c.64G>T
c.821-3963G>T (n.821-3963G>T)
c.96G>T (p.Leu32=)
8g.43178183T>ACA371117282HGSNATc.961T>A (p.Leu321Ile)
c.202T>A (p.Leu68Ile)
c.65T>A
c.821-3962T>A (n.821-3962T>A)
c.97T>A (p.Leu33Ile)
8g.43178183T>CCA176068211HGSNATc.961T>C (p.Leu321=)
c.202T>C (p.Leu68=)
c.65T>C
c.821-3962T>C (n.821-3962T>C)
c.97T>C (p.Leu33=)
 dbSNP
8g.43178183T>GCA371117280HGSNATc.961T>G (p.Leu321Val)
c.202T>G (p.Leu68Val)
c.65T>G
c.821-3962T>G (n.821-3962T>G)
c.97T>G (p.Leu33Val)
8g.43178183T=CA1779771419HGSNATc.961T= (p.Leu321=)
c.202T= (p.Leu68=)
c.65T=
c.821-3962T= (n.821-3962T=)
c.97T= (p.Leu33=)
8g.43178184T>ACA371117284HGSNATc.962T>A (p.Leu321Ter)
c.203T>A (p.Leu68Ter)
c.66T>A
c.821-3961T>A (n.821-3961T>A)
c.98T>A (p.Leu33Ter)
8g.43178184T>CCA371117287HGSNATc.962T>C (p.Leu321Ser)
c.203T>C (p.Leu68Ser)
c.66T>C
c.821-3961T>C (n.821-3961T>C)
c.98T>C (p.Leu33Ser)
8g.43178184T>GCA114865HGSNATc.962T>G (p.Leu321Ter)
c.203T>G (p.Leu68Ter)
c.66T>G
c.821-3961T>G (n.821-3961T>G)
c.98T>G (p.Leu33Ter)
 ClinVar dbSNP
8g.43178184T=CA1779771420HGSNATc.962T= (p.Leu321=)
c.203T= (p.Leu68=)
c.66T=
c.821-3961T= (n.821-3961T=)
c.98T= (p.Leu33=)
8g.43178185A>CCA371117289HGSNATc.963A>C (p.Leu321Phe)
c.204A>C (p.Leu68Phe)
c.67A>C
c.821-3960A>C (n.821-3960A>C)
c.99A>C (p.Leu33Phe)
8g.43178185A>GCA460573313HGSNATc.963A>G (p.Leu321=)
c.204A>G (p.Leu68=)
c.67A>G
c.821-3960A>G (n.821-3960A>G)
c.99A>G (p.Leu33=)
 gnomAD v4
8g.43178185A>TCA371117290HGSNATc.963A>T (p.Leu321Phe)
c.204A>T (p.Leu68Phe)
c.67A>T
c.821-3960A>T (n.821-3960A>T)
c.99A>T (p.Leu33Phe)
8g.43178186A>CCA371117294HGSNATc.964A>C (p.Ile322Leu)
c.205A>C (p.Ile69Leu)
c.68A>C
c.821-3959A>C (n.821-3959A>C)
c.100A>C (p.Ile34Leu)
8g.43178186A>GCA371117298HGSNATc.964A>G (p.Ile322Val)
c.205A>G (p.Ile69Val)
c.68A>G
c.821-3959A>G (n.821-3959A>G)
c.100A>G (p.Ile34Val)
8g.43178186A>TCA371117296HGSNATc.964A>T (p.Ile322Phe)
c.205A>T (p.Ile69Phe)
c.68A>T
c.821-3959A>T (n.821-3959A>T)
c.100A>T (p.Ile34Phe)
8g.43178187T>ACA371117300HGSNATc.965T>A (p.Ile322Asn)
c.206T>A (p.Ile69Asn)
c.69T>A
c.821-3958T>A (n.821-3958T>A)
c.101T>A (p.Ile34Asn)
8g.43178187T>CCA371117302HGSNATc.965T>C (p.Ile322Thr)
c.206T>C (p.Ile69Thr)
c.69T>C
c.821-3958T>C (n.821-3958T>C)
c.101T>C (p.Ile34Thr)
8g.43178187T>GCA371117305HGSNATc.965T>G (p.Ile322Ser)
c.206T>G (p.Ile69Ser)
c.69T>G
c.821-3958T>G (n.821-3958T>G)
c.101T>G (p.Ile34Ser)
8g.43178188C>ACA460573331HGSNATc.966C>A (p.Ile322=)
c.207C>A (p.Ile69=)
c.70C>A
c.821-3957C>A (n.821-3957C>A)
c.102C>A (p.Ile34=)
8g.43178188C>GCA371117306HGSNATc.966C>G (p.Ile322Met)
c.207C>G (p.Ile69Met)
c.70C>G
c.821-3957C>G (n.821-3957C>G)
c.102C>G (p.Ile34Met)
8g.43178188C>TCA460573335HGSNATc.966C>T (p.Ile322=)
c.207C>T (p.Ile69=)
c.70C>T
c.821-3957C>T (n.821-3957C>T)
c.102C>T (p.Ile34=)
 COSMIC

Number of alleles fetched