Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.43252858A=CA2173102652TGM5c.763T= (p.Trp255=)
n.232T=
c.517T= (p.Trp173=)
c.760T= (p.Trp254=)
c.514T= (p.Trp172=)
c.766T= (p.Trp256=)
n.937T=
15g.43252858A>CCA392099409TGM5c.763T>G (p.Trp255Gly)
n.232T>G
c.517T>G (p.Trp173Gly)
c.760T>G (p.Trp254Gly)
c.514T>G (p.Trp172Gly)
c.766T>G (p.Trp256Gly)
n.937T>G
15g.43252858A>GCA170978TGM5c.763T>C (p.Trp255Arg)
n.232T>C
c.517T>C (p.Trp173Arg)
c.760T>C (p.Trp254Arg)
c.514T>C (p.Trp172Arg)
c.766T>C (p.Trp256Arg)
n.937T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252858A>TCA392099406TGM5c.763T>A (p.Trp255Arg)
n.232T>A
c.517T>A (p.Trp173Arg)
c.760T>A (p.Trp254Arg)
c.514T>A (p.Trp172Arg)
c.766T>A (p.Trp256Arg)
n.937T>A
15g.43252859C>ACA392099413TGM5c.762G>T (p.Glu254Asp)
n.231G>T
c.516G>T (p.Glu172Asp)
c.759G>T (p.Glu253Asp)
c.513G>T (p.Glu171Asp)
c.765G>T (p.Glu255Asp)
n.936G>T
15g.43252859C=CA2173102653TGM5c.762G= (p.Glu254=)
n.231G=
c.516G= (p.Glu172=)
c.759G= (p.Glu253=)
c.513G= (p.Glu171=)
c.765G= (p.Glu255=)
n.936G=
15g.43252859C>GCA392099415TGM5c.762G>C (p.Glu254Asp)
n.231G>C
c.516G>C (p.Glu172Asp)
c.759G>C (p.Glu253Asp)
c.513G>C (p.Glu171Asp)
c.765G>C (p.Glu255Asp)
n.936G>C
15g.43252859C>TCA7521215TGM5c.762G>A (p.Glu254=)
n.231G>A
c.516G>A (p.Glu172=)
c.759G>A (p.Glu253=)
c.513G>A (p.Glu171=)
c.765G>A (p.Glu255=)
n.936G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252860T>ACA392099421TGM5c.761A>T (p.Glu254Val)
n.230A>T
c.515A>T (p.Glu172Val)
c.758A>T (p.Glu253Val)
c.512A>T (p.Glu171Val)
c.764A>T (p.Glu255Val)
n.935A>T
15g.43252860T>CCA392099424TGM5c.761A>G (p.Glu254Gly)
n.230A>G
c.515A>G (p.Glu172Gly)
c.758A>G (p.Glu253Gly)
c.512A>G (p.Glu171Gly)
c.764A>G (p.Glu255Gly)
n.935A>G
15g.43252860T>GCA392099427TGM5c.761A>C (p.Glu254Ala)
n.230A>C
c.515A>C (p.Glu172Ala)
c.758A>C (p.Glu253Ala)
c.512A>C (p.Glu171Ala)
c.764A>C (p.Glu255Ala)
n.935A>C
15g.43252861C>ACA392099432TGM5c.760G>T (p.Glu254Ter)
n.229G>T
c.514G>T (p.Glu172Ter)
c.757G>T (p.Glu253Ter)
c.511G>T (p.Glu171Ter)
c.763G>T (p.Glu255Ter)
n.934G>T
15g.43252861C=CA2173102654TGM5c.760G= (p.Glu254=)
n.229G=
c.514G= (p.Glu172=)
c.757G= (p.Glu253=)
c.511G= (p.Glu171=)
c.763G= (p.Glu255=)
n.934G=
15g.43252861C>GCA392099434TGM5c.760G>C (p.Glu254Gln)
n.229G>C
c.514G>C (p.Glu172Gln)
c.757G>C (p.Glu253Gln)
c.511G>C (p.Glu171Gln)
c.763G>C (p.Glu255Gln)
n.934G>C
15g.43252861C>TCA269975339TGM5c.760G>A (p.Glu254Lys)
n.229G>A
c.514G>A (p.Glu172Lys)
c.757G>A (p.Glu253Lys)
c.511G>A (p.Glu171Lys)
c.763G>A (p.Glu255Lys)
n.934G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252862C>ACA490131488TGM5c.759G>T (p.Ala253=)
n.228G>T
c.513G>T (p.Ala171=)
c.756G>T (p.Ala252=)
c.510G>T (p.Ala170=)
c.762G>T (p.Ala254=)
n.933G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252862C=CA2173102655TGM5c.759G= (p.Ala253=)
n.228G=
c.513G= (p.Ala171=)
c.756G= (p.Ala252=)
c.510G= (p.Ala170=)
c.762G= (p.Ala254=)
n.933G=
15g.43252862C>GCA490131490TGM5c.759G>C (p.Ala253=)
n.228G>C
c.513G>C (p.Ala171=)
c.756G>C (p.Ala252=)
c.510G>C (p.Ala170=)
c.762G>C (p.Ala254=)
n.933G>C
15g.43252862C>TCA7521216TGM5c.759G>A (p.Ala253=)
n.228G>A
c.513G>A (p.Ala171=)
c.756G>A (p.Ala252=)
c.510G>A (p.Ala170=)
c.762G>A (p.Ala254=)
n.933G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252863G>ACA7521217TGM5c.758C>T (p.Ala253Val)
n.227C>T
c.512C>T (p.Ala171Val)
c.755C>T (p.Ala252Val)
c.509C>T (p.Ala170Val)
c.761C>T (p.Ala254Val)
n.932C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252863G>CCA392099445TGM5c.758C>G (p.Ala253Gly)
n.227C>G
c.512C>G (p.Ala171Gly)
c.755C>G (p.Ala252Gly)
c.509C>G (p.Ala170Gly)
c.761C>G (p.Ala254Gly)
n.932C>G
15g.43252863G=CA2173102656TGM5c.758C= (p.Ala253=)
n.227C=
c.512C= (p.Ala171=)
c.755C= (p.Ala252=)
c.509C= (p.Ala170=)
c.761C= (p.Ala254=)
n.932C=
15g.43252863G>TCA7521218TGM5c.758C>A (p.Ala253Glu)
n.227C>A
c.512C>A (p.Ala171Glu)
c.755C>A (p.Ala252Glu)
c.509C>A (p.Ala170Glu)
c.761C>A (p.Ala254Glu)
n.932C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252864C>ACA392099458TGM5c.757G>T (p.Ala253Ser)
n.226G>T
c.511G>T (p.Ala171Ser)
c.754G>T (p.Ala252Ser)
c.508G>T (p.Ala170Ser)
c.760G>T (p.Ala254Ser)
n.931G>T
15g.43252864C>GCA392099455TGM5c.757G>C (p.Ala253Pro)
n.226G>C
c.511G>C (p.Ala171Pro)
c.754G>C (p.Ala252Pro)
c.508G>C (p.Ala170Pro)
c.760G>C (p.Ala254Pro)
n.931G>C
15g.43252864C>TCA392099453TGM5c.757G>A (p.Ala253Thr)
n.226G>A
c.511G>A (p.Ala171Thr)
c.754G>A (p.Ala252Thr)
c.508G>A (p.Ala170Thr)
c.760G>A (p.Ala254Thr)
n.931G>A
15g.43252865A>CCA490131494TGM5c.756T>G (p.Pro252=)
n.225T>G
c.510T>G (p.Pro170=)
c.753T>G (p.Pro251=)
c.507T>G (p.Pro169=)
c.759T>G (p.Pro253=)
n.930T>G
15g.43252865A>GCA490131495TGM5c.756T>C (p.Pro252=)
n.225T>C
c.510T>C (p.Pro170=)
c.753T>C (p.Pro251=)
c.507T>C (p.Pro169=)
c.759T>C (p.Pro253=)
n.930T>C
15g.43252865A>TCA490131496TGM5c.756T>A (p.Pro252=)
n.225T>A
c.510T>A (p.Pro170=)
c.753T>A (p.Pro251=)
c.507T>A (p.Pro169=)
c.759T>A (p.Pro253=)
n.930T>A
15g.43252865_43252866delinsAGCA2173102657TGM5c.755_756delinsCT (p.Pro252=)
n.224_225delinsCT
c.509_510delinsCT (p.Pro170=)
c.752_753delinsCT (p.Pro251=)
c.506_507delinsCT (p.Pro169=)
c.758_759delinsCT (p.Pro253=)
n.929_930delinsCT
15g.43252866G>ACA392099462TGM5c.755C>T (p.Pro252Leu)
n.224C>T
c.509C>T (p.Pro170Leu)
c.752C>T (p.Pro251Leu)
c.506C>T (p.Pro169Leu)
c.758C>T (p.Pro253Leu)
n.929C>T
15g.43252866G>CCA392099465TGM5c.755C>G (p.Pro252Arg)
n.224C>G
c.509C>G (p.Pro170Arg)
c.752C>G (p.Pro251Arg)
c.506C>G (p.Pro169Arg)
c.758C>G (p.Pro253Arg)
n.929C>G
15g.43252866G>TCA392099467TGM5c.755C>A (p.Pro252His)
n.224C>A
c.509C>A (p.Pro170His)
c.752C>A (p.Pro251His)
c.506C>A (p.Pro169His)
c.758C>A (p.Pro253His)
n.929C>A
15g.43252868delCA618003368TGM5c.755del (p.Pro252LeufsTer11)
n.224del
c.509del (p.Pro170LeufsTer11)
c.752del (p.Pro251LeufsTer11)
c.506del (p.Pro169LeufsTer11)
c.758del (p.Pro253LeufsTer11)
n.929del
 dbSNP gnomAD v2
15g.43252867G>ACA7521219TGM5c.754C>T (p.Pro252Ser)
n.223C>T
c.508C>T (p.Pro170Ser)
c.751C>T (p.Pro251Ser)
c.505C>T (p.Pro169Ser)
c.757C>T (p.Pro253Ser)
n.928C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252867G>CCA392099472TGM5c.754C>G (p.Pro252Ala)
n.223C>G
c.508C>G (p.Pro170Ala)
c.751C>G (p.Pro251Ala)
c.505C>G (p.Pro169Ala)
c.757C>G (p.Pro253Ala)
n.928C>G
15g.43252867G=CA2173102658TGM5c.754C= (p.Pro252=)
n.223C=
c.508C= (p.Pro170=)
c.751C= (p.Pro251=)
c.505C= (p.Pro169=)
c.757C= (p.Pro253=)
n.928C=
15g.43252867G>TCA392099475TGM5c.754C>A (p.Pro252Thr)
n.223C>A
c.508C>A (p.Pro170Thr)
c.751C>A (p.Pro251Thr)
c.505C>A (p.Pro169Thr)
c.757C>A (p.Pro253Thr)
n.928C>A
15g.43252868G>ACA7521220TGM5c.753C>T (p.Asn251=)
n.222C>T
c.507C>T (p.Asn169=)
c.750C>T (p.Asn250=)
c.504C>T (p.Asn168=)
c.756C>T (p.Asn252=)
n.927C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252868G>CCA392099483TGM5c.753C>G (p.Asn251Lys)
n.222C>G
c.507C>G (p.Asn169Lys)
c.750C>G (p.Asn250Lys)
c.504C>G (p.Asn168Lys)
c.756C>G (p.Asn252Lys)
n.927C>G
15g.43252868G=CA2173102659TGM5c.753C= (p.Asn251=)
n.222C=
c.507C= (p.Asn169=)
c.750C= (p.Asn250=)
c.504C= (p.Asn168=)
c.756C= (p.Asn252=)
n.927C=
15g.43252868G>TCA392099485TGM5c.753C>A (p.Asn251Lys)
n.222C>A
c.507C>A (p.Asn169Lys)
c.750C>A (p.Asn250Lys)
c.504C>A (p.Asn168Lys)
c.756C>A (p.Asn252Lys)
n.927C>A
15g.43252868_43252869delinsGTCA2173102660TGM5c.752_753delinsAC (p.Asn251=)
n.221_222delinsAC
c.506_507delinsAC (p.Asn169=)
c.749_750delinsAC (p.Asn250=)
c.503_504delinsAC (p.Asn168=)
c.755_756delinsAC (p.Asn252=)
n.926_927delinsAC
15g.43252869T>ACA392099492TGM5c.752A>T (p.Asn251Ile)
n.221A>T
c.506A>T (p.Asn169Ile)
c.749A>T (p.Asn250Ile)
c.503A>T (p.Asn168Ile)
c.755A>T (p.Asn252Ile)
n.926A>T
15g.43252869T>CCA392099495TGM5c.752A>G (p.Asn251Ser)
n.221A>G
c.506A>G (p.Asn169Ser)
c.749A>G (p.Asn250Ser)
c.503A>G (p.Asn168Ser)
c.755A>G (p.Asn252Ser)
n.926A>G
15g.43252869T>GCA392099498TGM5c.752A>C (p.Asn251Thr)
n.221A>C
c.506A>C (p.Asn169Thr)
c.749A>C (p.Asn250Thr)
c.503A>C (p.Asn168Thr)
c.755A>C (p.Asn252Thr)
n.926A>C
 dbSNP
15g.43252869T=CA2173102661TGM5c.752A= (p.Asn251=)
n.221A=
c.506A= (p.Asn169=)
c.749A= (p.Asn250=)
c.503A= (p.Asn168=)
c.755A= (p.Asn252=)
n.926A=
15g.43252870delCA7521221TGM5c.752del (p.Asn251ThrfsTer12)
n.221del
c.506del (p.Asn169ThrfsTer12)
c.749del (p.Asn250ThrfsTer12)
c.503del (p.Asn168ThrfsTer12)
c.755del (p.Asn252ThrfsTer12)
n.926del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252870T>ACA392099507TGM5c.751A>T (p.Asn251Tyr)
n.220A>T
c.505A>T (p.Asn169Tyr)
c.748A>T (p.Asn250Tyr)
c.502A>T (p.Asn168Tyr)
c.754A>T (p.Asn252Tyr)
n.925A>T
15g.43252870T>CCA392099511TGM5c.751A>G (p.Asn251Asp)
n.220A>G
c.505A>G (p.Asn169Asp)
c.748A>G (p.Asn250Asp)
c.502A>G (p.Asn168Asp)
c.754A>G (p.Asn252Asp)
n.925A>G
15g.43252870T>GCA392099504TGM5c.751A>C (p.Asn251His)
n.220A>C
c.505A>C (p.Asn169His)
c.748A>C (p.Asn250His)
c.502A>C (p.Asn168His)
c.754A>C (p.Asn252His)
n.925A>C
15g.43252871G>ACA490131505TGM5c.750C>T (p.Ala250=)
n.219C>T
c.504C>T (p.Ala168=)
c.747C>T (p.Ala249=)
c.501C>T (p.Ala167=)
c.753C>T (p.Ala251=)
n.924C>T
15g.43252871G>CCA490131506TGM5c.750C>G (p.Ala250=)
n.219C>G
c.504C>G (p.Ala168=)
c.747C>G (p.Ala249=)
c.501C>G (p.Ala167=)
c.753C>G (p.Ala251=)
n.924C>G
15g.43252871G>TCA490131507TGM5c.750C>A (p.Ala250=)
n.219C>A
c.504C>A (p.Ala168=)
c.747C>A (p.Ala249=)
c.501C>A (p.Ala167=)
c.753C>A (p.Ala251=)
n.924C>A
 gnomAD v3 gnomAD v4
15g.43252872G>ACA392099516TGM5c.749C>T (p.Ala250Val)
n.218C>T
c.503C>T (p.Ala168Val)
c.746C>T (p.Ala249Val)
c.500C>T (p.Ala167Val)
c.752C>T (p.Ala251Val)
n.923C>T
 gnomAD v4
15g.43252872G>CCA392099523TGM5c.749C>G (p.Ala250Gly)
n.218C>G
c.503C>G (p.Ala168Gly)
c.746C>G (p.Ala249Gly)
c.500C>G (p.Ala167Gly)
c.752C>G (p.Ala251Gly)
n.923C>G
15g.43252872G>TCA392099519TGM5c.749C>A (p.Ala250Asp)
n.218C>A
c.503C>A (p.Ala168Asp)
c.746C>A (p.Ala249Asp)
c.500C>A (p.Ala167Asp)
c.752C>A (p.Ala251Asp)
n.923C>A
15g.43252873C>ACA269975389TGM5c.748G>T (p.Ala250Ser)
n.217G>T
c.502G>T (p.Ala168Ser)
c.745G>T (p.Ala249Ser)
c.499G>T (p.Ala167Ser)
c.751G>T (p.Ala251Ser)
n.922G>T
 dbSNP gnomAD v3 gnomAD v4
15g.43252873C=CA2173102662TGM5c.748G= (p.Ala250=)
n.217G=
c.502G= (p.Ala168=)
c.745G= (p.Ala249=)
c.499G= (p.Ala167=)
c.751G= (p.Ala251=)
n.922G=
15g.43252873C>GCA392099531TGM5c.748G>C (p.Ala250Pro)
n.217G>C
c.502G>C (p.Ala168Pro)
c.745G>C (p.Ala249Pro)
c.499G>C (p.Ala167Pro)
c.751G>C (p.Ala251Pro)
n.922G>C
15g.43252873C>TCA7521222TGM5c.748G>A (p.Ala250Thr)
n.217G>A
c.502G>A (p.Ala168Thr)
c.745G>A (p.Ala249Thr)
c.499G>A (p.Ala167Thr)
c.751G>A (p.Ala251Thr)
n.922G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252874G>ACA269975392TGM5c.747C>T (p.Gly249=)
n.216C>T
c.501C>T (p.Gly167=)
c.744C>T (p.Gly248=)
c.498C>T (p.Gly166=)
c.750C>T (p.Gly250=)
n.921C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.43252874G>CCA490131511TGM5c.747C>G (p.Gly249=)
n.216C>G
c.501C>G (p.Gly167=)
c.744C>G (p.Gly248=)
c.498C>G (p.Gly166=)
c.750C>G (p.Gly250=)
n.921C>G
 dbSNP gnomAD v2 gnomAD v4
15g.43252874G=CA2173102663TGM5c.747C= (p.Gly249=)
n.216C=
c.501C= (p.Gly167=)
c.744C= (p.Gly248=)
c.498C= (p.Gly166=)
c.750C= (p.Gly250=)
n.921C=
15g.43252874G>TCA490131512TGM5c.747C>A (p.Gly249=)
n.216C>A
c.501C>A (p.Gly167=)
c.744C>A (p.Gly248=)
c.498C>A (p.Gly166=)
c.750C>A (p.Gly250=)
n.921C>A
15g.43252875C>ACA392099538TGM5c.746G>T (p.Gly249Val)
n.215G>T
c.500G>T (p.Gly167Val)
c.743G>T (p.Gly248Val)
c.497G>T (p.Gly166Val)
c.749G>T (p.Gly250Val)
n.920G>T
15g.43252875C>GCA392099542TGM5c.746G>C (p.Gly249Ala)
n.215G>C
c.500G>C (p.Gly167Ala)
c.743G>C (p.Gly248Ala)
c.497G>C (p.Gly166Ala)
c.749G>C (p.Gly250Ala)
n.920G>C
15g.43252875C>TCA392099547TGM5c.746G>A (p.Gly249Asp)
n.215G>A
c.500G>A (p.Gly167Asp)
c.743G>A (p.Gly248Asp)
c.497G>A (p.Gly166Asp)
c.749G>A (p.Gly250Asp)
n.920G>A
15g.43252876C>ACA392099550TGM5c.745G>T (p.Gly249Cys)
n.214G>T
c.499G>T (p.Gly167Cys)
c.742G>T (p.Gly248Cys)
c.496G>T (p.Gly166Cys)
c.748G>T (p.Gly250Cys)
n.919G>T
15g.43252876C=CA2173102664TGM5c.745G= (p.Gly249=)
n.214G=
c.499G= (p.Gly167=)
c.742G= (p.Gly248=)
c.496G= (p.Gly166=)
c.748G= (p.Gly250=)
n.919G=
15g.43252876C>GCA269975399TGM5c.745G>C (p.Gly249Arg)
n.214G>C
c.499G>C (p.Gly167Arg)
c.742G>C (p.Gly248Arg)
c.496G>C (p.Gly166Arg)
c.748G>C (p.Gly250Arg)
n.919G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252876C>TCA392099555TGM5c.745G>A (p.Gly249Ser)
n.214G>A
c.499G>A (p.Gly167Ser)
c.742G>A (p.Gly248Ser)
c.496G>A (p.Gly166Ser)
c.748G>A (p.Gly250Ser)
n.919G>A
 dbSNP gnomAD v3 gnomAD v4
15g.43252877G>ACA7521223TGM5c.744C>T (p.Asp248=)
n.213C>T
c.498C>T (p.Asp166=)
c.741C>T (p.Asp247=)
c.495C>T (p.Asp165=)
c.747C>T (p.Asp249=)
n.918C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252877G>CCA392099560TGM5c.744C>G (p.Asp248Glu)
n.213C>G
c.498C>G (p.Asp166Glu)
c.741C>G (p.Asp247Glu)
c.495C>G (p.Asp165Glu)
c.747C>G (p.Asp249Glu)
n.918C>G
 gnomAD v4
15g.43252877G=CA2173102665TGM5c.744C= (p.Asp248=)
n.213C=
c.498C= (p.Asp166=)
c.741C= (p.Asp247=)
c.495C= (p.Asp165=)
c.747C= (p.Asp249=)
n.918C=
15g.43252877G>TCA392099562TGM5c.744C>A (p.Asp248Glu)
n.213C>A
c.498C>A (p.Asp166Glu)
c.741C>A (p.Asp247Glu)
c.495C>A (p.Asp165Glu)
c.747C>A (p.Asp249Glu)
n.918C>A
15g.43252878T>ACA392099571TGM5c.743A>T (p.Asp248Val)
n.212A>T
c.497A>T (p.Asp166Val)
c.740A>T (p.Asp247Val)
c.494A>T (p.Asp165Val)
c.746A>T (p.Asp249Val)
n.917A>T
15g.43252878T>CCA392099566TGM5c.743A>G (p.Asp248Gly)
n.212A>G
c.497A>G (p.Asp166Gly)
c.740A>G (p.Asp247Gly)
c.494A>G (p.Asp165Gly)
c.746A>G (p.Asp249Gly)
n.917A>G
 gnomAD v4
15g.43252878T>GCA392099568TGM5c.743A>C (p.Asp248Ala)
n.212A>C
c.497A>C (p.Asp166Ala)
c.740A>C (p.Asp247Ala)
c.494A>C (p.Asp165Ala)
c.746A>C (p.Asp249Ala)
n.917A>C
15g.43252879C>ACA392099576TGM5c.742G>T (p.Asp248Tyr)
n.211G>T
c.496G>T (p.Asp166Tyr)
c.739G>T (p.Asp247Tyr)
c.493G>T (p.Asp165Tyr)
c.745G>T (p.Asp249Tyr)
n.916G>T
15g.43252879C>GCA392099578TGM5c.742G>C (p.Asp248His)
n.211G>C
c.496G>C (p.Asp166His)
c.739G>C (p.Asp247His)
c.493G>C (p.Asp165His)
c.745G>C (p.Asp249His)
n.916G>C
15g.43252879C>TCA392099582TGM5c.742G>A (p.Asp248Asn)
n.211G>A
c.496G>A (p.Asp166Asn)
c.739G>A (p.Asp247Asn)
c.493G>A (p.Asp165Asn)
c.745G>A (p.Asp249Asn)
n.916G>A
15g.43252880T>ACA490131516TGM5c.741A>T (p.Thr247=)
n.210A>T
c.495A>T (p.Thr165=)
c.738A>T (p.Thr246=)
c.492A>T (p.Thr164=)
c.744A>T (p.Thr248=)
n.915A>T
15g.43252880T>CCA490131517TGM5c.741A>G (p.Thr247=)
n.210A>G
c.495A>G (p.Thr165=)
c.738A>G (p.Thr246=)
c.492A>G (p.Thr164=)
c.744A>G (p.Thr248=)
n.915A>G
 COSMIC
15g.43252880T>GCA490131518TGM5c.741A>C (p.Thr247=)
n.210A>C
c.495A>C (p.Thr165=)
c.738A>C (p.Thr246=)
c.492A>C (p.Thr164=)
c.744A>C (p.Thr248=)
n.915A>C
15g.43252881G>ACA392099586TGM5c.740C>T (p.Thr247Ile)
n.209C>T
c.494C>T (p.Thr165Ile)
c.737C>T (p.Thr246Ile)
c.491C>T (p.Thr164Ile)
c.743C>T (p.Thr248Ile)
n.914C>T
 dbSNP gnomAD v4
15g.43252881G>CCA392099591TGM5c.740C>G (p.Thr247Arg)
n.209C>G
c.494C>G (p.Thr165Arg)
c.737C>G (p.Thr246Arg)
c.491C>G (p.Thr164Arg)
c.743C>G (p.Thr248Arg)
n.914C>G
 gnomAD v4
15g.43252881G=CA2173102666TGM5c.740C= (p.Thr247=)
n.209C=
c.494C= (p.Thr165=)
c.737C= (p.Thr246=)
c.491C= (p.Thr164=)
c.743C= (p.Thr248=)
n.914C=
15g.43252881G>TCA392099593TGM5c.740C>A (p.Thr247Lys)
n.209C>A
c.494C>A (p.Thr165Lys)
c.737C>A (p.Thr246Lys)
c.491C>A (p.Thr164Lys)
c.743C>A (p.Thr248Lys)
n.914C>A
15g.43252882T>ACA392099596TGM5c.739A>T (p.Thr247Ser)
n.208A>T
c.493A>T (p.Thr165Ser)
c.736A>T (p.Thr246Ser)
c.490A>T (p.Thr164Ser)
c.742A>T (p.Thr248Ser)
n.913A>T
15g.43252882T>CCA392099600TGM5c.739A>G (p.Thr247Ala)
n.208A>G
c.493A>G (p.Thr165Ala)
c.736A>G (p.Thr246Ala)
c.490A>G (p.Thr164Ala)
c.742A>G (p.Thr248Ala)
n.913A>G
15g.43252882T>GCA392099603TGM5c.739A>C (p.Thr247Pro)
n.208A>C
c.493A>C (p.Thr165Pro)
c.736A>C (p.Thr246Pro)
c.490A>C (p.Thr164Pro)
c.742A>C (p.Thr248Pro)
n.913A>C
15g.43252883G>ACA490131522TGM5c.738C>T (p.Tyr246=)
n.207C>T
c.492C>T (p.Tyr164=)
c.735C>T (p.Tyr245=)
c.489C>T (p.Tyr163=)
c.741C>T (p.Tyr247=)
n.912C>T
15g.43252883G>CCA392099605TGM5c.738C>G (p.Tyr246Ter)
n.207C>G
c.492C>G (p.Tyr164Ter)
c.735C>G (p.Tyr245Ter)
c.489C>G (p.Tyr163Ter)
c.741C>G (p.Tyr247Ter)
n.912C>G
15g.43252883G>TCA392099608TGM5c.738C>A (p.Tyr246Ter)
n.207C>A
c.492C>A (p.Tyr164Ter)
c.735C>A (p.Tyr245Ter)
c.489C>A (p.Tyr163Ter)
c.741C>A (p.Tyr247Ter)
n.912C>A
15g.43252884T>ACA392099619TGM5c.737A>T (p.Tyr246Phe)
n.206A>T
c.491A>T (p.Tyr164Phe)
c.734A>T (p.Tyr245Phe)
c.488A>T (p.Tyr163Phe)
c.740A>T (p.Tyr247Phe)
n.911A>T
15g.43252884T>CCA392099615TGM5c.737A>G (p.Tyr246Cys)
n.206A>G
c.491A>G (p.Tyr164Cys)
c.734A>G (p.Tyr245Cys)
c.488A>G (p.Tyr163Cys)
c.740A>G (p.Tyr247Cys)
n.911A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252884T>GCA392099611TGM5c.737A>C (p.Tyr246Ser)
n.206A>C
c.491A>C (p.Tyr164Ser)
c.734A>C (p.Tyr245Ser)
c.488A>C (p.Tyr163Ser)
c.740A>C (p.Tyr247Ser)
n.911A>C
15g.43252884T=CA2173102667TGM5c.737A= (p.Tyr246=)
n.206A=
c.491A= (p.Tyr164=)
c.734A= (p.Tyr245=)
c.488A= (p.Tyr163=)
c.740A= (p.Tyr247=)
n.911A=
15g.43252885A>CCA392099622TGM5c.736T>G (p.Tyr246Asp)
n.205T>G
c.490T>G (p.Tyr164Asp)
c.733T>G (p.Tyr245Asp)
c.487T>G (p.Tyr163Asp)
c.739T>G (p.Tyr247Asp)
n.910T>G
15g.43252885A>GCA392099624TGM5c.736T>C (p.Tyr246His)
n.205T>C
c.490T>C (p.Tyr164His)
c.733T>C (p.Tyr245His)
c.487T>C (p.Tyr163His)
c.739T>C (p.Tyr247His)
n.910T>C
 COSMIC
15g.43252885A>TCA392099627TGM5c.736T>A (p.Tyr246Asn)
n.205T>A
c.490T>A (p.Tyr164Asn)
c.733T>A (p.Tyr245Asn)
c.487T>A (p.Tyr163Asn)
c.739T>A (p.Tyr247Asn)
n.910T>A
15g.43252886dupCA2575701576TGM5c.736dup (p.Tyr246LeufsTer?)
n.205dup
c.490dup (p.Tyr164LeufsTer?)
c.733dup (p.Tyr245LeufsTer?)
c.487dup (p.Tyr163LeufsTer?)
c.739dup (p.Tyr247LeufsTer?)
n.910dup
15g.43252886A=CA2173102668TGM5c.735T= (p.Asn245=)
n.204T=
c.489T= (p.Asn163=)
c.732T= (p.Asn244=)
c.486T= (p.Asn162=)
c.738T= (p.Asn246=)
n.909T=
15g.43252886A>CCA392099629TGM5c.735T>G (p.Asn245Lys)
n.204T>G
c.489T>G (p.Asn163Lys)
c.732T>G (p.Asn244Lys)
c.486T>G (p.Asn162Lys)
c.738T>G (p.Asn246Lys)
n.909T>G
 dbSNP gnomAD v2 gnomAD v4
15g.43252886A>GCA490131526TGM5c.735T>C (p.Asn245=)
n.204T>C
c.489T>C (p.Asn163=)
c.732T>C (p.Asn244=)
c.486T>C (p.Asn162=)
c.738T>C (p.Asn246=)
n.909T>C
15g.43252886A>TCA392099632TGM5c.735T>A (p.Asn245Lys)
n.204T>A
c.489T>A (p.Asn163Lys)
c.732T>A (p.Asn244Lys)
c.486T>A (p.Asn162Lys)
c.738T>A (p.Asn246Lys)
n.909T>A
 dbSNP gnomAD v2 gnomAD v4
15g.43252887T>ACA392099635TGM5c.734A>T (p.Asn245Ile)
n.203A>T
c.488A>T (p.Asn163Ile)
c.731A>T (p.Asn244Ile)
c.485A>T (p.Asn162Ile)
c.737A>T (p.Asn246Ile)
n.908A>T
15g.43252887T>CCA392099638TGM5c.734A>G (p.Asn245Ser)
n.203A>G
c.488A>G (p.Asn163Ser)
c.731A>G (p.Asn244Ser)
c.485A>G (p.Asn162Ser)
c.737A>G (p.Asn246Ser)
n.908A>G
 gnomAD v4
15g.43252887T>GCA392099640TGM5c.734A>C (p.Asn245Thr)
n.203A>C
c.488A>C (p.Asn163Thr)
c.731A>C (p.Asn244Thr)
c.485A>C (p.Asn162Thr)
c.737A>C (p.Asn246Thr)
n.908A>C
15g.43252888T>ACA392099643TGM5c.733A>T (p.Asn245Tyr)
n.202A>T
c.487A>T (p.Asn163Tyr)
c.730A>T (p.Asn244Tyr)
c.484A>T (p.Asn162Tyr)
c.736A>T (p.Asn246Tyr)
n.907A>T
15g.43252888T>CCA392099646TGM5c.733A>G (p.Asn245Asp)
n.202A>G
c.487A>G (p.Asn163Asp)
c.730A>G (p.Asn244Asp)
c.484A>G (p.Asn162Asp)
c.736A>G (p.Asn246Asp)
n.907A>G
15g.43252888T>GCA392099649TGM5c.733A>C (p.Asn245His)
n.202A>C
c.487A>C (p.Asn163His)
c.730A>C (p.Asn244His)
c.484A>C (p.Asn162His)
c.736A>C (p.Asn246His)
n.907A>C
15g.43252889C>ACA7521224TGM5c.732G>T (p.Glu244Asp)
n.201G>T
c.486G>T (p.Glu162Asp)
c.729G>T (p.Glu243Asp)
c.483G>T (p.Glu161Asp)
c.735G>T (p.Glu245Asp)
n.906G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252889C=CA2173102669TGM5c.732G= (p.Glu244=)
n.201G=
c.486G= (p.Glu162=)
c.729G= (p.Glu243=)
c.483G= (p.Glu161=)
c.735G= (p.Glu245=)
n.906G=
15g.43252889C>GCA392099653TGM5c.732G>C (p.Glu244Asp)
n.201G>C
c.486G>C (p.Glu162Asp)
c.729G>C (p.Glu243Asp)
c.483G>C (p.Glu161Asp)
c.735G>C (p.Glu245Asp)
n.906G>C
15g.43252889C>TCA490131529TGM5c.732G>A (p.Glu244=)
n.201G>A
c.486G>A (p.Glu162=)
c.729G>A (p.Glu243=)
c.483G>A (p.Glu161=)
c.735G>A (p.Glu245=)
n.906G>A
15g.43252890T>ACA392099668TGM5c.731A>T (p.Glu244Val)
n.200A>T
c.485A>T (p.Glu162Val)
c.728A>T (p.Glu243Val)
c.482A>T (p.Glu161Val)
c.734A>T (p.Glu245Val)
n.905A>T
15g.43252890T>CCA392099660TGM5c.731A>G (p.Glu244Gly)
n.200A>G
c.485A>G (p.Glu162Gly)
c.728A>G (p.Glu243Gly)
c.482A>G (p.Glu161Gly)
c.734A>G (p.Glu245Gly)
n.905A>G
15g.43252890T>GCA392099666TGM5c.731A>C (p.Glu244Ala)
n.200A>C
c.485A>C (p.Glu162Ala)
c.728A>C (p.Glu243Ala)
c.482A>C (p.Glu161Ala)
c.734A>C (p.Glu245Ala)
n.905A>C
15g.43252891C>ACA392099671TGM5c.730G>T (p.Glu244Ter)
n.199G>T
c.484G>T (p.Glu162Ter)
c.727G>T (p.Glu243Ter)
c.481G>T (p.Glu161Ter)
c.733G>T (p.Glu245Ter)
n.904G>T
15g.43252891C>GCA392099673TGM5c.730G>C (p.Glu244Gln)
n.199G>C
c.484G>C (p.Glu162Gln)
c.727G>C (p.Glu243Gln)
c.481G>C (p.Glu161Gln)
c.733G>C (p.Glu245Gln)
n.904G>C
15g.43252891C>TCA392099677TGM5c.730G>A (p.Glu244Lys)
n.199G>A
c.484G>A (p.Glu162Lys)
c.727G>A (p.Glu243Lys)
c.481G>A (p.Glu161Lys)
c.733G>A (p.Glu245Lys)
n.904G>A
15g.43252892A>CCA392099683TGM5c.729T>G (p.Ser243Arg)
n.198T>G
c.483T>G (p.Ser161Arg)
c.726T>G (p.Ser242Arg)
c.480T>G (p.Ser160Arg)
c.732T>G (p.Ser244Arg)
n.903T>G
15g.43252892A>GCA490131533TGM5c.729T>C (p.Ser243=)
n.198T>C
c.483T>C (p.Ser161=)
c.726T>C (p.Ser242=)
c.480T>C (p.Ser160=)
c.732T>C (p.Ser244=)
n.903T>C
15g.43252892A>TCA392099685TGM5c.729T>A (p.Ser243Arg)
n.198T>A
c.483T>A (p.Ser161Arg)
c.726T>A (p.Ser242Arg)
c.480T>A (p.Ser160Arg)
c.732T>A (p.Ser244Arg)
n.903T>A
15g.43252893C>ACA392099691TGM5c.728G>T (p.Ser243Ile)
n.197G>T
c.482G>T (p.Ser161Ile)
c.725G>T (p.Ser242Ile)
c.479G>T (p.Ser160Ile)
c.731G>T (p.Ser244Ile)
n.902G>T
15g.43252893C=CA2173102670TGM5c.728G= (p.Ser243=)
n.197G=
c.482G= (p.Ser161=)
c.725G= (p.Ser242=)
c.479G= (p.Ser160=)
c.731G= (p.Ser244=)
n.902G=
15g.43252893C>GCA7521225TGM5c.728G>C (p.Ser243Thr)
n.197G>C
c.482G>C (p.Ser161Thr)
c.725G>C (p.Ser242Thr)
c.479G>C (p.Ser160Thr)
c.731G>C (p.Ser244Thr)
n.902G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252893C>TCA392099696TGM5c.728G>A (p.Ser243Asn)
n.197G>A
c.482G>A (p.Ser161Asn)
c.725G>A (p.Ser242Asn)
c.479G>A (p.Ser160Asn)
c.731G>A (p.Ser244Asn)
n.902G>A
 gnomAD v4
15g.43252894T>ACA392099702TGM5c.727A>T (p.Ser243Cys)
n.196A>T
c.481A>T (p.Ser161Cys)
c.724A>T (p.Ser242Cys)
c.478A>T (p.Ser160Cys)
c.730A>T (p.Ser244Cys)
n.901A>T
15g.43252894T>CCA392099705TGM5c.727A>G (p.Ser243Gly)
n.196A>G
c.481A>G (p.Ser161Gly)
c.724A>G (p.Ser242Gly)
c.478A>G (p.Ser160Gly)
c.730A>G (p.Ser244Gly)
n.901A>G
15g.43252894T>GCA392099708TGM5c.727A>C (p.Ser243Arg)
n.196A>C
c.481A>C (p.Ser161Arg)
c.724A>C (p.Ser242Arg)
c.478A>C (p.Ser160Arg)
c.730A>C (p.Ser244Arg)
n.901A>C
15g.43252895C>ACA392099717TGM5c.726G>T (p.Trp242Cys)
n.195G>T
c.480G>T (p.Trp160Cys)
c.723G>T (p.Trp241Cys)
c.477G>T (p.Trp159Cys)
c.729G>T (p.Trp243Cys)
n.900G>T
15g.43252895C>GCA392099715TGM5c.726G>C (p.Trp242Cys)
n.195G>C
c.480G>C (p.Trp160Cys)
c.723G>C (p.Trp241Cys)
c.477G>C (p.Trp159Cys)
c.729G>C (p.Trp243Cys)
n.900G>C
15g.43252895C>TCA392099711TGM5c.726G>A (p.Trp242Ter)
n.195G>A
c.480G>A (p.Trp160Ter)
c.723G>A (p.Trp241Ter)
c.477G>A (p.Trp159Ter)
c.729G>A (p.Trp243Ter)
n.900G>A
 COSMIC
15g.43252896C>ACA392099721TGM5c.725G>T (p.Trp242Leu)
n.194G>T
c.479G>T (p.Trp160Leu)
c.722G>T (p.Trp241Leu)
c.476G>T (p.Trp159Leu)
c.728G>T (p.Trp243Leu)
n.899G>T
15g.43252896C>GCA392099728TGM5c.725G>C (p.Trp242Ser)
n.194G>C
c.479G>C (p.Trp160Ser)
c.722G>C (p.Trp241Ser)
c.476G>C (p.Trp159Ser)
c.728G>C (p.Trp243Ser)
n.899G>C
15g.43252896C>TCA392099725TGM5c.725G>A (p.Trp242Ter)
n.194G>A
c.479G>A (p.Trp160Ter)
c.722G>A (p.Trp241Ter)
c.476G>A (p.Trp159Ter)
c.728G>A (p.Trp243Ter)
n.899G>A
 gnomAD v4
15g.43252897A>CCA392099732TGM5c.724T>G (p.Trp242Gly)
n.193T>G
c.478T>G (p.Trp160Gly)
c.721T>G (p.Trp241Gly)
c.475T>G (p.Trp159Gly)
c.727T>G (p.Trp243Gly)
n.898T>G
15g.43252897A>GCA392099738TGM5c.724T>C (p.Trp242Arg)
n.193T>C
c.478T>C (p.Trp160Arg)
c.721T>C (p.Trp241Arg)
c.475T>C (p.Trp159Arg)
c.727T>C (p.Trp243Arg)
n.898T>C
 gnomAD v4
15g.43252897A>TCA392099735TGM5c.724T>A (p.Trp242Arg)
n.193T>A
c.478T>A (p.Trp160Arg)
c.721T>A (p.Trp241Arg)
c.475T>A (p.Trp159Arg)
c.727T>A (p.Trp243Arg)
n.898T>A
15g.43252898G>ACA490131536TGM5c.723C>T (p.Asn241=)
n.192C>T
c.477C>T (p.Asn159=)
c.720C>T (p.Asn240=)
c.474C>T (p.Asn158=)
c.726C>T (p.Asn242=)
n.897C>T
 gnomAD v4
15g.43252898G>CCA7521226TGM5c.723C>G (p.Asn241Lys)
n.192C>G
c.477C>G (p.Asn159Lys)
c.720C>G (p.Asn240Lys)
c.474C>G (p.Asn158Lys)
c.726C>G (p.Asn242Lys)
n.897C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252898G=CA2173102671TGM5c.723C= (p.Asn241=)
n.192C=
c.477C= (p.Asn159=)
c.720C= (p.Asn240=)
c.474C= (p.Asn158=)
c.726C= (p.Asn242=)
n.897C=
15g.43252898G>TCA392099743TGM5c.723C>A (p.Asn241Lys)
n.192C>A
c.477C>A (p.Asn159Lys)
c.720C>A (p.Asn240Lys)
c.474C>A (p.Asn158Lys)
c.726C>A (p.Asn242Lys)
n.897C>A
 gnomAD v4
15g.43252899T>ACA392099757TGM5c.722A>T (p.Asn241Ile)
n.191A>T
c.476A>T (p.Asn159Ile)
c.719A>T (p.Asn240Ile)
c.473A>T (p.Asn158Ile)
c.725A>T (p.Asn242Ile)
n.896A>T
15g.43252899T>CCA392099760TGM5c.722A>G (p.Asn241Ser)
n.191A>G
c.476A>G (p.Asn159Ser)
c.719A>G (p.Asn240Ser)
c.473A>G (p.Asn158Ser)
c.725A>G (p.Asn242Ser)
n.896A>G
15g.43252899T>GCA392099763TGM5c.722A>C (p.Asn241Thr)
n.191A>C
c.476A>C (p.Asn159Thr)
c.719A>C (p.Asn240Thr)
c.473A>C (p.Asn158Thr)
c.725A>C (p.Asn242Thr)
n.896A>C
15g.43252900T>ACA269975418TGM5c.721A>T (p.Asn241Tyr)
n.190A>T
c.475A>T (p.Asn159Tyr)
c.718A>T (p.Asn240Tyr)
c.472A>T (p.Asn158Tyr)
c.724A>T (p.Asn242Tyr)
n.895A>T
 dbSNP
15g.43252900T>CCA392099772TGM5c.721A>G (p.Asn241Asp)
n.190A>G
c.475A>G (p.Asn159Asp)
c.718A>G (p.Asn240Asp)
c.472A>G (p.Asn158Asp)
c.724A>G (p.Asn242Asp)
n.895A>G
15g.43252900T>GCA392099774TGM5c.721A>C (p.Asn241His)
n.190A>C
c.475A>C (p.Asn159His)
c.718A>C (p.Asn240His)
c.472A>C (p.Asn158His)
c.724A>C (p.Asn242His)
n.895A>C
15g.43252900T=CA2173102672TGM5c.721A= (p.Asn241=)
n.190A=
c.475A= (p.Asn159=)
c.718A= (p.Asn240=)
c.472A= (p.Asn158=)
c.724A= (p.Asn242=)
n.895A=
15g.43252901T>ACA490131537TGM5c.720A>T (p.Gly240=)
n.189A>T
c.474A>T (p.Gly158=)
c.717A>T (p.Gly239=)
c.471A>T (p.Gly157=)
c.723A>T (p.Gly241=)
n.894A>T
15g.43252901T>CCA490131538TGM5c.720A>G (p.Gly240=)
n.189A>G
c.474A>G (p.Gly158=)
c.717A>G (p.Gly239=)
c.471A>G (p.Gly157=)
c.723A>G (p.Gly241=)
n.894A>G
15g.43252901T>GCA490131539TGM5c.720A>C (p.Gly240=)
n.189A>C
c.474A>C (p.Gly158=)
c.717A>C (p.Gly239=)
c.471A>C (p.Gly157=)
c.723A>C (p.Gly241=)
n.894A>C
15g.43252902C>ACA392099780TGM5c.719G>T (p.Gly240Val)
n.188G>T
c.473G>T (p.Gly158Val)
c.716G>T (p.Gly239Val)
c.470G>T (p.Gly157Val)
c.722G>T (p.Gly241Val)
n.893G>T
15g.43252902C=CA2173102673TGM5c.719G= (p.Gly240=)
n.188G=
c.473G= (p.Gly158=)
c.716G= (p.Gly239=)
c.470G= (p.Gly157=)
c.722G= (p.Gly241=)
n.893G=
15g.43252902C>GCA392099783TGM5c.719G>C (p.Gly240Ala)
n.188G>C
c.473G>C (p.Gly158Ala)
c.716G>C (p.Gly239Ala)
c.470G>C (p.Gly157Ala)
c.722G>C (p.Gly241Ala)
n.893G>C
 gnomAD v4
15g.43252902C>TCA392099786TGM5c.719G>A (p.Gly240Glu)
n.188G>A
c.473G>A (p.Gly158Glu)
c.716G>A (p.Gly239Glu)
c.470G>A (p.Gly157Glu)
c.722G>A (p.Gly241Glu)
n.893G>A
 dbSNP COSMIC
15g.43252903C>ACA392099801TGM5c.718G>T (p.Gly240Ter)
n.187G>T
c.472G>T (p.Gly158Ter)
c.715G>T (p.Gly239Ter)
c.469G>T (p.Gly157Ter)
c.721G>T (p.Gly241Ter)
n.892G>T
 COSMIC
15g.43252903C>GCA392099798TGM5c.718G>C (p.Gly240Arg)
n.187G>C
c.472G>C (p.Gly158Arg)
c.715G>C (p.Gly239Arg)
c.469G>C (p.Gly157Arg)
c.721G>C (p.Gly241Arg)
n.892G>C
15g.43252903C>TCA392099795TGM5c.718G>A (p.Gly240Arg)
n.187G>A
c.472G>A (p.Gly158Arg)
c.715G>A (p.Gly239Arg)
c.469G>A (p.Gly157Arg)
c.721G>A (p.Gly241Arg)
n.892G>A
15g.43252904A=CA2173102674TGM5c.717T= (p.Asn239=)
n.186T=
c.471T= (p.Asn157=)
c.714T= (p.Asn238=)
c.468T= (p.Asn156=)
c.720T= (p.Asn240=)
n.891T=
15g.43252904A>CCA392099812TGM5c.717T>G (p.Asn239Lys)
n.186T>G
c.471T>G (p.Asn157Lys)
c.714T>G (p.Asn238Lys)
c.468T>G (p.Asn156Lys)
c.720T>G (p.Asn240Lys)
n.891T>G
15g.43252904A>GCA490131542TGM5c.717T>C (p.Asn239=)
n.186T>C
c.471T>C (p.Asn157=)
c.714T>C (p.Asn238=)
c.468T>C (p.Asn156=)
c.720T>C (p.Asn240=)
n.891T>C
 dbSNP gnomAD v2 gnomAD v4
15g.43252904A>TCA392099815TGM5c.717T>A (p.Asn239Lys)
n.186T>A
c.471T>A (p.Asn157Lys)
c.714T>A (p.Asn238Lys)
c.468T>A (p.Asn156Lys)
c.720T>A (p.Asn240Lys)
n.891T>A
15g.43252905T>ACA392099819TGM5c.716A>T (p.Asn239Ile)
n.185A>T
c.470A>T (p.Asn157Ile)
c.713A>T (p.Asn238Ile)
c.467A>T (p.Asn156Ile)
c.719A>T (p.Asn240Ile)
n.890A>T
 gnomAD v4
15g.43252905T>CCA7521227TGM5c.716A>G (p.Asn239Ser)
n.185A>G
c.470A>G (p.Asn157Ser)
c.713A>G (p.Asn238Ser)
c.467A>G (p.Asn156Ser)
c.719A>G (p.Asn240Ser)
n.890A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252905T>GCA392099824TGM5c.716A>C (p.Asn239Thr)
n.185A>C
c.470A>C (p.Asn157Thr)
c.713A>C (p.Asn238Thr)
c.467A>C (p.Asn156Thr)
c.719A>C (p.Asn240Thr)
n.890A>C
15g.43252905T=CA2173102675TGM5c.716A= (p.Asn239=)
n.185A=
c.470A= (p.Asn157=)
c.713A= (p.Asn238=)
c.467A= (p.Asn156=)
c.719A= (p.Asn240=)
n.890A=
15g.43252906T>ACA392099827TGM5c.715A>T (p.Asn239Tyr)
n.184A>T
c.469A>T (p.Asn157Tyr)
c.712A>T (p.Asn238Tyr)
c.466A>T (p.Asn156Tyr)
c.718A>T (p.Asn240Tyr)
n.889A>T
 dbSNP gnomAD v3 gnomAD v4
15g.43252906T>CCA392099831TGM5c.715A>G (p.Asn239Asp)
n.184A>G
c.469A>G (p.Asn157Asp)
c.712A>G (p.Asn238Asp)
c.466A>G (p.Asn156Asp)
c.718A>G (p.Asn240Asp)
n.889A>G
15g.43252906T>GCA392099833TGM5c.715A>C (p.Asn239His)
n.184A>C
c.469A>C (p.Asn157His)
c.712A>C (p.Asn238His)
c.466A>C (p.Asn156His)
c.718A>C (p.Asn240His)
n.889A>C
15g.43252906T=CA2173102676TGM5c.715A= (p.Asn239=)
n.184A=
c.469A= (p.Asn157=)
c.712A= (p.Asn238=)
c.466A= (p.Asn156=)
c.718A= (p.Asn240=)
n.889A=
15g.43252907G>ACA490131545TGM5c.714C>T (p.Leu238=)
n.183C>T
c.468C>T (p.Leu156=)
c.711C>T (p.Leu237=)
c.465C>T (p.Leu155=)
c.717C>T (p.Leu239=)
n.888C>T
15g.43252907G>CCA490131546TGM5c.714C>G (p.Leu238=)
n.183C>G
c.468C>G (p.Leu156=)
c.711C>G (p.Leu237=)
c.465C>G (p.Leu155=)
c.717C>G (p.Leu239=)
n.888C>G
15g.43252907G>TCA490131547TGM5c.714C>A (p.Leu238=)
n.183C>A
c.468C>A (p.Leu156=)
c.711C>A (p.Leu237=)
c.465C>A (p.Leu155=)
c.717C>A (p.Leu239=)
n.888C>A
15g.43252908A>CCA392099837TGM5c.713T>G (p.Leu238Arg)
n.182T>G
c.467T>G (p.Leu156Arg)
c.710T>G (p.Leu237Arg)
c.464T>G (p.Leu155Arg)
c.716T>G (p.Leu239Arg)
n.887T>G
15g.43252908A>GCA392099840TGM5c.713T>C (p.Leu238Pro)
n.182T>C
c.467T>C (p.Leu156Pro)
c.710T>C (p.Leu237Pro)
c.464T>C (p.Leu155Pro)
c.716T>C (p.Leu239Pro)
n.887T>C
 gnomAD v4
15g.43252908A>TCA392099842TGM5c.713T>A (p.Leu238His)
n.182T>A
c.467T>A (p.Leu156His)
c.710T>A (p.Leu237His)
c.464T>A (p.Leu155His)
c.716T>A (p.Leu239His)
n.887T>A
15g.43252909G>ACA392099854TGM5c.712C>T (p.Leu238Phe)
n.181C>T
c.466C>T (p.Leu156Phe)
c.709C>T (p.Leu237Phe)
c.463C>T (p.Leu155Phe)
c.715C>T (p.Leu239Phe)
n.886C>T
15g.43252909G>CCA7521228TGM5c.712C>G (p.Leu238Val)
n.181C>G
c.466C>G (p.Leu156Val)
c.709C>G (p.Leu237Val)
c.463C>G (p.Leu155Val)
c.715C>G (p.Leu239Val)
n.886C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252909G=CA2173102677TGM5c.712C= (p.Leu238=)
n.181C=
c.466C= (p.Leu156=)
c.709C= (p.Leu237=)
c.463C= (p.Leu155=)
c.715C= (p.Leu239=)
n.886C=
15g.43252909G>TCA392099849TGM5c.712C>A (p.Leu238Ile)
n.181C>A
c.466C>A (p.Leu156Ile)
c.709C>A (p.Leu237Ile)
c.463C>A (p.Leu155Ile)
c.715C>A (p.Leu239Ile)
n.886C>A
15g.43252910C>ACA490131551TGM5c.711G>T (p.Val237=)
n.180G>T
c.465G>T (p.Val155=)
c.708G>T (p.Val236=)
c.462G>T (p.Val154=)
c.714G>T (p.Val238=)
n.885G>T
 gnomAD v4
15g.43252910C>GCA490131552TGM5c.711G>C (p.Val237=)
n.180G>C
c.465G>C (p.Val155=)
c.708G>C (p.Val236=)
c.462G>C (p.Val154=)
c.714G>C (p.Val238=)
n.885G>C
15g.43252910C>TCA490131553TGM5c.711G>A (p.Val237=)
n.180G>A
c.465G>A (p.Val155=)
c.708G>A (p.Val236=)
c.462G>A (p.Val154=)
c.714G>A (p.Val238=)
n.885G>A
15g.43252910_43252911delinsCACA2173102678TGM5c.710_711delinsTG (p.Val237=)
n.179_180delinsTG
c.464_465delinsTG (p.Val155=)
c.707_708delinsTG (p.Val236=)
c.461_462delinsTG (p.Val154=)
c.713_714delinsTG (p.Val238=)
n.884_885delinsTG
15g.43252911delCA7521229TGM5c.710del (p.Val237GlyfsTer26)
n.179del
c.464del (p.Val155GlyfsTer26)
c.707del (p.Val236GlyfsTer26)
c.461del (p.Val154GlyfsTer26)
c.713del (p.Val238GlyfsTer26)
n.884del
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252911A=CA2173102679TGM5c.710T= (p.Val237=)
n.179T=
c.464T= (p.Val155=)
c.707T= (p.Val236=)
c.461T= (p.Val154=)
c.713T= (p.Val238=)
n.884T=
15g.43252911A>CCA392099859TGM5c.710T>G (p.Val237Gly)
n.179T>G
c.464T>G (p.Val155Gly)
c.707T>G (p.Val236Gly)
c.461T>G (p.Val154Gly)
c.713T>G (p.Val238Gly)
n.884T>G
 dbSNP
15g.43252911A>GCA392099863TGM5c.710T>C (p.Val237Ala)
n.179T>C
c.464T>C (p.Val155Ala)
c.707T>C (p.Val236Ala)
c.461T>C (p.Val154Ala)
c.713T>C (p.Val238Ala)
n.884T>C
15g.43252911A>TCA392099865TGM5c.710T>A (p.Val237Glu)
n.179T>A
c.464T>A (p.Val155Glu)
c.707T>A (p.Val236Glu)
c.461T>A (p.Val154Glu)
c.713T>A (p.Val238Glu)
n.884T>A
15g.43252912C>ACA392099874TGM5c.709G>T (p.Val237Leu)
n.178G>T
c.463G>T (p.Val155Leu)
c.706G>T (p.Val236Leu)
c.460G>T (p.Val154Leu)
c.712G>T (p.Val238Leu)
n.883G>T
 gnomAD v4
15g.43252912C>GCA392099878TGM5c.709G>C (p.Val237Leu)
n.178G>C
c.463G>C (p.Val155Leu)
c.706G>C (p.Val236Leu)
c.460G>C (p.Val154Leu)
c.712G>C (p.Val238Leu)
n.883G>C
15g.43252912C>TCA392099880TGM5c.709G>A (p.Val237Met)
n.178G>A
c.463G>A (p.Val155Met)
c.706G>A (p.Val236Met)
c.460G>A (p.Val154Met)
c.712G>A (p.Val238Met)
n.883G>A
15g.43252912_43252921dupCA7521230TGM5c.700_709dup (p.Val237GlyfsTer2)
n.169_178dup
c.454_463dup (p.Val155GlyfsTer2)
c.697_706dup (p.Val236GlyfsTer2)
c.451_460dup (p.Val154GlyfsTer2)
c.703_712dup (p.Val238GlyfsTer2)
n.874_883dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252913C>ACA490131556TGM5c.708G>T (p.Gly236=)
n.177G>T
c.462G>T (p.Gly154=)
c.705G>T (p.Gly235=)
c.459G>T (p.Gly153=)
c.711G>T (p.Gly237=)
n.882G>T
 gnomAD v4
15g.43252913C>GCA490131558TGM5c.708G>C (p.Gly236=)
n.177G>C
c.462G>C (p.Gly154=)
c.705G>C (p.Gly235=)
c.459G>C (p.Gly153=)
c.711G>C (p.Gly237=)
n.882G>C
15g.43252913C>TCA490131557TGM5c.708G>A (p.Gly236=)
n.177G>A
c.462G>A (p.Gly154=)
c.705G>A (p.Gly235=)
c.459G>A (p.Gly153=)
c.711G>A (p.Gly237=)
n.882G>A
 gnomAD v4
15g.43252914C>ACA392099884TGM5c.707G>T (p.Gly236Val)
n.176G>T
c.461G>T (p.Gly154Val)
c.704G>T (p.Gly235Val)
c.458G>T (p.Gly153Val)
c.710G>T (p.Gly237Val)
n.881G>T
15g.43252914C=CA2173102680TGM5c.707G= (p.Gly236=)
n.176G=
c.461G= (p.Gly154=)
c.704G= (p.Gly235=)
c.458G= (p.Gly153=)
c.710G= (p.Gly237=)
n.881G=
15g.43252914C>GCA269975459TGM5c.707G>C (p.Gly236Ala)
n.176G>C
c.461G>C (p.Gly154Ala)
c.704G>C (p.Gly235Ala)
c.458G>C (p.Gly153Ala)
c.710G>C (p.Gly237Ala)
n.881G>C
 dbSNP gnomAD v2 gnomAD v4
15g.43252914C>TCA392099888TGM5c.707G>A (p.Gly236Glu)
n.176G>A
c.461G>A (p.Gly154Glu)
c.704G>A (p.Gly235Glu)
c.458G>A (p.Gly153Glu)
c.710G>A (p.Gly237Glu)
n.881G>A
15g.43252915C>ACA392099893TGM5c.706G>T (p.Gly236Trp)
n.175G>T
c.460G>T (p.Gly154Trp)
c.703G>T (p.Gly235Trp)
c.457G>T (p.Gly153Trp)
c.709G>T (p.Gly237Trp)
n.880G>T
15g.43252915C>GCA392099896TGM5c.706G>C (p.Gly236Arg)
n.175G>C
c.460G>C (p.Gly154Arg)
c.703G>C (p.Gly235Arg)
c.457G>C (p.Gly153Arg)
c.709G>C (p.Gly237Arg)
n.880G>C
15g.43252915C>TCA392099899TGM5c.706G>A (p.Gly236Arg)
n.175G>A
c.460G>A (p.Gly154Arg)
c.703G>A (p.Gly235Arg)
c.457G>A (p.Gly153Arg)
c.709G>A (p.Gly237Arg)
n.880G>A
15g.43252916A>CCA392099903TGM5c.705T>G (p.Asn235Lys)
n.174T>G
c.459T>G (p.Asn153Lys)
c.702T>G (p.Asn234Lys)
c.456T>G (p.Asn152Lys)
c.708T>G (p.Asn236Lys)
n.879T>G
15g.43252916A>GCA490131559TGM5c.705T>C (p.Asn235=)
n.174T>C
c.459T>C (p.Asn153=)
c.702T>C (p.Asn234=)
c.456T>C (p.Asn152=)
c.708T>C (p.Asn236=)
n.879T>C
15g.43252916A>TCA392099904TGM5c.705T>A (p.Asn235Lys)
n.174T>A
c.459T>A (p.Asn153Lys)
c.702T>A (p.Asn234Lys)
c.456T>A (p.Asn152Lys)
c.708T>A (p.Asn236Lys)
n.879T>A
15g.43252917T>ACA392099910TGM5c.704A>T (p.Asn235Ile)
n.173A>T
c.458A>T (p.Asn153Ile)
c.701A>T (p.Asn234Ile)
c.455A>T (p.Asn152Ile)
c.707A>T (p.Asn236Ile)
n.878A>T
15g.43252917T>CCA392099912TGM5c.704A>G (p.Asn235Ser)
n.173A>G
c.458A>G (p.Asn153Ser)
c.701A>G (p.Asn234Ser)
c.455A>G (p.Asn152Ser)
c.707A>G (p.Asn236Ser)
n.878A>G
 dbSNP gnomAD v3 gnomAD v4
15g.43252917T>GCA392099915TGM5c.704A>C (p.Asn235Thr)
n.173A>C
c.458A>C (p.Asn153Thr)
c.701A>C (p.Asn234Thr)
c.455A>C (p.Asn152Thr)
c.707A>C (p.Asn236Thr)
n.878A>C
15g.43252917T=CA2173102681TGM5c.704A= (p.Asn235=)
n.173A=
c.458A= (p.Asn153=)
c.701A= (p.Asn234=)
c.455A= (p.Asn152=)
c.707A= (p.Asn236=)
n.878A=
15g.43252918T>ACA392099919TGM5c.703A>T (p.Asn235Tyr)
n.172A>T
c.457A>T (p.Asn153Tyr)
c.700A>T (p.Asn234Tyr)
c.454A>T (p.Asn152Tyr)
c.706A>T (p.Asn236Tyr)
n.877A>T
15g.43252918T>CCA392099921TGM5c.703A>G (p.Asn235Asp)
n.172A>G
c.457A>G (p.Asn153Asp)
c.700A>G (p.Asn234Asp)
c.454A>G (p.Asn152Asp)
c.706A>G (p.Asn236Asp)
n.877A>G
15g.43252918T>GCA392099924TGM5c.703A>C (p.Asn235His)
n.172A>C
c.457A>C (p.Asn153His)
c.700A>C (p.Asn234His)
c.454A>C (p.Asn152His)
c.706A>C (p.Asn236His)
n.877A>C
15g.43252919A>CCA392099930TGM5c.702T>G (p.Asp234Glu)
n.171T>G
c.456T>G (p.Asp152Glu)
c.699T>G (p.Asp233Glu)
c.453T>G (p.Asp151Glu)
c.705T>G (p.Asp235Glu)
n.876T>G
15g.43252919A>GCA490131561TGM5c.702T>C (p.Asp234=)
n.171T>C
c.456T>C (p.Asp152=)
c.699T>C (p.Asp233=)
c.453T>C (p.Asp151=)
c.705T>C (p.Asp235=)
n.876T>C
 gnomAD v4
15g.43252919A>TCA392099934TGM5c.702T>A (p.Asp234Glu)
n.171T>A
c.456T>A (p.Asp152Glu)
c.699T>A (p.Asp233Glu)
c.453T>A (p.Asp151Glu)
c.705T>A (p.Asp235Glu)
n.876T>A
15g.43252920T>ACA392099939TGM5c.701A>T (p.Asp234Val)
n.170A>T
c.455A>T (p.Asp152Val)
c.698A>T (p.Asp233Val)
c.452A>T (p.Asp151Val)
c.704A>T (p.Asp235Val)
n.875A>T
15g.43252920T>CCA392099944TGM5c.701A>G (p.Asp234Gly)
n.170A>G
c.455A>G (p.Asp152Gly)
c.698A>G (p.Asp233Gly)
c.452A>G (p.Asp151Gly)
c.704A>G (p.Asp235Gly)
n.875A>G
15g.43252920T>GCA7521231TGM5c.701A>C (p.Asp234Ala)
n.170A>C
c.455A>C (p.Asp152Ala)
c.698A>C (p.Asp233Ala)
c.452A>C (p.Asp151Ala)
c.704A>C (p.Asp235Ala)
n.875A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252920T=CA2173102682TGM5c.701A= (p.Asp234=)
n.170A=
c.455A= (p.Asp152=)
c.698A= (p.Asp233=)
c.452A= (p.Asp151=)
c.704A= (p.Asp235=)
n.875A=
15g.43252921C>ACA392099980TGM5c.700G>T (p.Asp234Tyr)
n.169G>T
c.454G>T (p.Asp152Tyr)
c.697G>T (p.Asp233Tyr)
c.451G>T (p.Asp151Tyr)
c.703G>T (p.Asp235Tyr)
n.874G>T
15g.43252921C>GCA392099971TGM5c.700G>C (p.Asp234His)
n.169G>C
c.454G>C (p.Asp152His)
c.697G>C (p.Asp233His)
c.451G>C (p.Asp151His)
c.703G>C (p.Asp235His)
n.874G>C
 gnomAD v4
15g.43252921C>TCA392099967TGM5c.700G>A (p.Asp234Asn)
n.169G>A
c.454G>A (p.Asp152Asn)
c.697G>A (p.Asp233Asn)
c.451G>A (p.Asp151Asn)
c.703G>A (p.Asp235Asn)
n.874G>A
 COSMIC
15g.43252922A>CCA392099981TGM5c.699T>G (p.Asp233Glu)
n.168T>G
c.453T>G (p.Asp151Glu)
c.696T>G (p.Asp232Glu)
c.450T>G (p.Asp150Glu)
c.702T>G (p.Asp234Glu)
n.873T>G
15g.43252922A>GCA490131563TGM5c.699T>C (p.Asp233=)
n.168T>C
c.453T>C (p.Asp151=)
c.696T>C (p.Asp232=)
c.450T>C (p.Asp150=)
c.702T>C (p.Asp234=)
n.873T>C
 gnomAD v4
15g.43252922A>TCA392099984TGM5c.699T>A (p.Asp233Glu)
n.168T>A
c.453T>A (p.Asp151Glu)
c.696T>A (p.Asp232Glu)
c.450T>A (p.Asp150Glu)
c.702T>A (p.Asp234Glu)
n.873T>A
15g.43252923T>ACA392099986TGM5c.698A>T (p.Asp233Val)
n.167A>T
c.452A>T (p.Asp151Val)
c.695A>T (p.Asp232Val)
c.449A>T (p.Asp150Val)
c.701A>T (p.Asp234Val)
n.872A>T
15g.43252923T>CCA392099990TGM5c.698A>G (p.Asp233Gly)
n.167A>G
c.452A>G (p.Asp151Gly)
c.695A>G (p.Asp232Gly)
c.449A>G (p.Asp150Gly)
c.701A>G (p.Asp234Gly)
n.872A>G
15g.43252923T>GCA392099993TGM5c.698A>C (p.Asp233Ala)
n.167A>C
c.452A>C (p.Asp151Ala)
c.695A>C (p.Asp232Ala)
c.449A>C (p.Asp150Ala)
c.701A>C (p.Asp234Ala)
n.872A>C
15g.43252924C>ACA392099997TGM5c.697G>T (p.Asp233Tyr)
n.166G>T
c.451G>T (p.Asp151Tyr)
c.694G>T (p.Asp232Tyr)
c.448G>T (p.Asp150Tyr)
c.700G>T (p.Asp234Tyr)
n.871G>T
15g.43252924C>GCA392100003TGM5c.697G>C (p.Asp233His)
n.166G>C
c.451G>C (p.Asp151His)
c.694G>C (p.Asp232His)
c.448G>C (p.Asp150His)
c.700G>C (p.Asp234His)
n.871G>C
15g.43252924C>TCA392100005TGM5c.697G>A (p.Asp233Asn)
n.166G>A
c.451G>A (p.Asp151Asn)
c.694G>A (p.Asp232Asn)
c.448G>A (p.Asp150Asn)
c.700G>A (p.Asp234Asn)
n.871G>A
15g.43252925A>CCA392100010TGM5c.696T>G (p.Asn232Lys)
n.165T>G
c.450T>G (p.Asn150Lys)
c.693T>G (p.Asn231Lys)
c.447T>G (p.Asn149Lys)
c.699T>G (p.Asn233Lys)
n.870T>G
 gnomAD v4
15g.43252925A>GCA490131566TGM5c.696T>C (p.Asn232=)
n.165T>C
c.450T>C (p.Asn150=)
c.693T>C (p.Asn231=)
c.447T>C (p.Asn149=)
c.699T>C (p.Asn233=)
n.870T>C
15g.43252925A>TCA392100011TGM5c.696T>A (p.Asn232Lys)
n.165T>A
c.450T>A (p.Asn150Lys)
c.693T>A (p.Asn231Lys)
c.447T>A (p.Asn149Lys)
c.699T>A (p.Asn233Lys)
n.870T>A
15g.43252926T>ACA392100014TGM5c.695A>T (p.Asn232Ile)
n.164A>T
c.449A>T (p.Asn150Ile)
c.692A>T (p.Asn231Ile)
c.446A>T (p.Asn149Ile)
c.698A>T (p.Asn233Ile)
n.869A>T
15g.43252926T>CCA392100031TGM5c.695A>G (p.Asn232Ser)
n.164A>G
c.449A>G (p.Asn150Ser)
c.692A>G (p.Asn231Ser)
c.446A>G (p.Asn149Ser)
c.698A>G (p.Asn233Ser)
n.869A>G
 dbSNP gnomAD v4
15g.43252926T>GCA392100034TGM5c.695A>C (p.Asn232Thr)
n.164A>C
c.449A>C (p.Asn150Thr)
c.692A>C (p.Asn231Thr)
c.446A>C (p.Asn149Thr)
c.698A>C (p.Asn233Thr)
n.869A>C
15g.43252926T=CA2173102683TGM5c.695A= (p.Asn232=)
n.164A=
c.449A= (p.Asn150=)
c.692A= (p.Asn231=)
c.446A= (p.Asn149=)
c.698A= (p.Asn233=)
n.869A=
15g.43252927T>ACA392100037TGM5c.694A>T (p.Asn232Tyr)
n.163A>T
c.448A>T (p.Asn150Tyr)
c.691A>T (p.Asn231Tyr)
c.445A>T (p.Asn149Tyr)
c.697A>T (p.Asn233Tyr)
n.868A>T
15g.43252927T>CCA392100040TGM5c.694A>G (p.Asn232Asp)
n.163A>G
c.448A>G (p.Asn150Asp)
c.691A>G (p.Asn231Asp)
c.445A>G (p.Asn149Asp)
c.697A>G (p.Asn233Asp)
n.868A>G
15g.43252927T>GCA392100043TGM5c.694A>C (p.Asn232His)
n.163A>C
c.448A>C (p.Asn150His)
c.691A>C (p.Asn231His)
c.445A>C (p.Asn149His)
c.697A>C (p.Asn233His)
n.868A>C
15g.43252928G>ACA490131568TGM5c.693C>T (p.Ser231=)
n.162C>T
c.447C>T (p.Ser149=)
c.690C>T (p.Ser230=)
c.444C>T (p.Ser148=)
c.696C>T (p.Ser232=)
n.867C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252928G>CCA392100049TGM5c.693C>G (p.Ser231Arg)
n.162C>G
c.447C>G (p.Ser149Arg)
c.690C>G (p.Ser230Arg)
c.444C>G (p.Ser148Arg)
c.696C>G (p.Ser232Arg)
n.867C>G
15g.43252928G=CA2173102684TGM5c.693C= (p.Ser231=)
n.162C=
c.447C= (p.Ser149=)
c.690C= (p.Ser230=)
c.444C= (p.Ser148=)
c.696C= (p.Ser232=)
n.867C=
15g.43252928G>TCA392100051TGM5c.693C>A (p.Ser231Arg)
n.162C>A
c.447C>A (p.Ser149Arg)
c.690C>A (p.Ser230Arg)
c.444C>A (p.Ser148Arg)
c.696C>A (p.Ser232Arg)
n.867C>A
 gnomAD v4
15g.43252929C>ACA392100057TGM5c.692G>T (p.Ser231Ile)
n.161G>T
c.446G>T (p.Ser149Ile)
c.689G>T (p.Ser230Ile)
c.443G>T (p.Ser148Ile)
c.695G>T (p.Ser232Ile)
n.866G>T
15g.43252929C=CA2173102685TGM5c.692G= (p.Ser231=)
n.161G=
c.446G= (p.Ser149=)
c.689G= (p.Ser230=)
c.443G= (p.Ser148=)
c.695G= (p.Ser232=)
n.866G=
15g.43252929C>GCA392100061TGM5c.692G>C (p.Ser231Thr)
n.161G>C
c.446G>C (p.Ser149Thr)
c.689G>C (p.Ser230Thr)
c.443G>C (p.Ser148Thr)
c.695G>C (p.Ser232Thr)
n.866G>C
 dbSNP gnomAD v2
15g.43252929C>TCA7521232TGM5c.692G>A (p.Ser231Asn)
n.161G>A
c.446G>A (p.Ser149Asn)
c.689G>A (p.Ser230Asn)
c.443G>A (p.Ser148Asn)
c.695G>A (p.Ser232Asn)
n.866G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252930T>ACA392100071TGM5c.691A>T (p.Ser231Cys)
n.160A>T
c.445A>T (p.Ser149Cys)
c.688A>T (p.Ser230Cys)
c.442A>T (p.Ser148Cys)
c.694A>T (p.Ser232Cys)
n.865A>T
15g.43252930T>CCA392100075TGM5c.691A>G (p.Ser231Gly)
n.160A>G
c.445A>G (p.Ser149Gly)
c.688A>G (p.Ser230Gly)
c.442A>G (p.Ser148Gly)
c.694A>G (p.Ser232Gly)
n.865A>G
15g.43252930T>GCA392100079TGM5c.691A>C (p.Ser231Arg)
n.160A>C
c.445A>C (p.Ser149Arg)
c.688A>C (p.Ser230Arg)
c.442A>C (p.Ser148Arg)
c.694A>C (p.Ser232Arg)
n.865A>C
15g.43252931G>ACA490131570TGM5c.690C>T (p.Asn230=)
n.159C>T
c.444C>T (p.Asn148=)
c.687C>T (p.Asn229=)
c.441C>T (p.Asn147=)
c.693C>T (p.Asn231=)
n.864C>T
 dbSNP gnomAD v2 gnomAD v4
15g.43252931G>CCA392100083TGM5c.690C>G (p.Asn230Lys)
n.159C>G
c.444C>G (p.Asn148Lys)
c.687C>G (p.Asn229Lys)
c.441C>G (p.Asn147Lys)
c.693C>G (p.Asn231Lys)
n.864C>G
15g.43252931G=CA2173102686TGM5c.690C= (p.Asn230=)
n.159C=
c.444C= (p.Asn148=)
c.687C= (p.Asn229=)
c.441C= (p.Asn147=)
c.693C= (p.Asn231=)
n.864C=
15g.43252931G>TCA392100087TGM5c.690C>A (p.Asn230Lys)
n.159C>A
c.444C>A (p.Asn148Lys)
c.687C>A (p.Asn229Lys)
c.441C>A (p.Asn147Lys)
c.693C>A (p.Asn231Lys)
n.864C>A
 gnomAD v4
15g.43252932T>ACA392100092TGM5c.689A>T (p.Asn230Ile)
n.158A>T
c.443A>T (p.Asn148Ile)
c.686A>T (p.Asn229Ile)
c.440A>T (p.Asn147Ile)
c.692A>T (p.Asn231Ile)
n.863A>T
15g.43252932T>CCA392100095TGM5c.689A>G (p.Asn230Ser)
n.158A>G
c.443A>G (p.Asn148Ser)
c.686A>G (p.Asn229Ser)
c.440A>G (p.Asn147Ser)
c.692A>G (p.Asn231Ser)
n.863A>G
15g.43252932T>GCA392100099TGM5c.689A>C (p.Asn230Thr)
n.158A>C
c.443A>C (p.Asn148Thr)
c.686A>C (p.Asn229Thr)
c.440A>C (p.Asn147Thr)
c.692A>C (p.Asn231Thr)
n.863A>C
15g.43252933T>ACA392100105TGM5c.688A>T (p.Asn230Tyr)
n.157A>T
c.442A>T (p.Asn148Tyr)
c.685A>T (p.Asn229Tyr)
c.439A>T (p.Asn147Tyr)
c.691A>T (p.Asn231Tyr)
n.862A>T
15g.43252933T>CCA392100104TGM5c.688A>G (p.Asn230Asp)
n.157A>G
c.442A>G (p.Asn148Asp)
c.685A>G (p.Asn229Asp)
c.439A>G (p.Asn147Asp)
c.691A>G (p.Asn231Asp)
n.862A>G
15g.43252933T>GCA392100103TGM5c.688A>C (p.Asn230His)
n.157A>C
c.442A>C (p.Asn148His)
c.685A>C (p.Asn229His)
c.439A>C (p.Asn147His)
c.691A>C (p.Asn231His)
n.862A>C
15g.43252936_43252940delCA2628101010TGM5c.685-1_688del
n.154-1_157del
c.439-1_442del
c.682-1_685del
c.436-1_439del
c.688-1_691del
n.859-1_862del
 gnomAD v4
15g.43252934G>ACA490131573TGM5c.687C>T (p.Ile229=)
n.156C>T
c.441C>T (p.Ile147=)
c.684C>T (p.Ile228=)
c.438C>T (p.Ile146=)
c.690C>T (p.Ile230=)
n.861C>T
15g.43252934G>CCA392100108TGM5c.687C>G (p.Ile229Met)
n.156C>G
c.441C>G (p.Ile147Met)
c.684C>G (p.Ile228Met)
c.438C>G (p.Ile146Met)
c.690C>G (p.Ile230Met)
n.861C>G
15g.43252934G>TCA490131574TGM5c.687C>A (p.Ile229=)
n.156C>A
c.441C>A (p.Ile147=)
c.684C>A (p.Ile228=)
c.438C>A (p.Ile146=)
c.690C>A (p.Ile230=)
n.861C>A
15g.43252935A>CCA392100115TGM5c.686T>G (p.Ile229Ser)
n.155T>G
c.440T>G (p.Ile147Ser)
c.683T>G (p.Ile228Ser)
c.437T>G (p.Ile146Ser)
c.689T>G (p.Ile230Ser)
n.860T>G
15g.43252935A>GCA392100119TGM5c.686T>C (p.Ile229Thr)
n.155T>C
c.440T>C (p.Ile147Thr)
c.683T>C (p.Ile228Thr)
c.437T>C (p.Ile146Thr)
c.689T>C (p.Ile230Thr)
n.860T>C
15g.43252935A>TCA392100123TGM5c.686T>A (p.Ile229Asn)
n.155T>A
c.440T>A (p.Ile147Asn)
c.683T>A (p.Ile228Asn)
c.437T>A (p.Ile146Asn)
c.689T>A (p.Ile230Asn)
n.860T>A
15g.43252936T>ACA392100128TGM5c.685A>T (p.Ile229Phe)
n.154A>T
c.439A>T (p.Ile147Phe)
c.682A>T (p.Ile228Phe)
c.436A>T (p.Ile146Phe)
c.688A>T (p.Ile230Phe)
n.859A>T
15g.43252936T>CCA392100133TGM5c.685A>G (p.Ile229Val)
n.154A>G
c.439A>G (p.Ile147Val)
c.682A>G (p.Ile228Val)
c.436A>G (p.Ile146Val)
c.688A>G (p.Ile230Val)
n.859A>G
 gnomAD v4
15g.43252936T>GCA392100137TGM5c.685A>C (p.Ile229Leu)
n.154A>C
c.439A>C (p.Ile147Leu)
c.682A>C (p.Ile228Leu)
c.436A>C (p.Ile146Leu)
c.688A>C (p.Ile230Leu)
n.859A>C
15g.43252937C>ACA392100144TGM5c.685-1G>T (n.685-1G>T)
n.154-1G>T
c.439-1G>T (n.439-1G>T)
c.682-1G>T (n.682-1G>T)
c.436-1G>T (n.436-1G>T)
c.688-1G>T (n.688-1G>T)
n.859-1G>T
 dbSNP gnomAD v2 gnomAD v4
15g.43252937C=CA2173102687TGM5c.685-1G= (n.685-1G=)
n.154-1G=
c.439-1G= (n.439-1G=)
c.682-1G= (n.682-1G=)
c.436-1G= (n.436-1G=)
c.688-1G= (n.688-1G=)
n.859-1G=
15g.43252937C>GCA392100147TGM5c.685-1G>C (n.685-1G>C)
n.154-1G>C
c.439-1G>C (n.439-1G>C)
c.682-1G>C (n.682-1G>C)
c.436-1G>C (n.436-1G>C)
c.688-1G>C (n.688-1G>C)
n.859-1G>C
 gnomAD v4
15g.43252937C>TCA392100149TGM5c.685-1G>A (n.685-1G>A)
n.154-1G>A
c.439-1G>A (n.439-1G>A)
c.682-1G>A (n.682-1G>A)
c.436-1G>A (n.436-1G>A)
c.688-1G>A (n.688-1G>A)
n.859-1G>A
15g.43252938T>ACA392100163TGM5c.685-2A>T (n.685-2A>T)
n.154-2A>T
c.439-2A>T (n.439-2A>T)
c.682-2A>T (n.682-2A>T)
c.436-2A>T (n.436-2A>T)
c.688-2A>T (n.688-2A>T)
n.859-2A>T
15g.43252938T>CCA392100166TGM5c.685-2A>G (n.685-2A>G)
n.154-2A>G
c.439-2A>G (n.439-2A>G)
c.682-2A>G (n.682-2A>G)
c.436-2A>G (n.436-2A>G)
c.688-2A>G (n.688-2A>G)
n.859-2A>G
15g.43252938T>GCA392100170TGM5c.685-2A>C (n.685-2A>C)
n.154-2A>C
c.439-2A>C (n.439-2A>C)
c.682-2A>C (n.682-2A>C)
c.436-2A>C (n.436-2A>C)
c.688-2A>C (n.688-2A>C)
n.859-2A>C
15g.43252939G>ACA2628101011TGM5c.685-3C>T (n.685-3C>T)
n.154-3C>T
c.439-3C>T (n.439-3C>T)
c.682-3C>T (n.682-3C>T)
c.436-3C>T (n.436-3C>T)
c.688-3C>T (n.688-3C>T)
n.859-3C>T
 gnomAD v4
15g.43252939G>CCA2173102689TGM5c.685-3C>G (n.685-3C>G)
n.154-3C>G
c.439-3C>G (n.439-3C>G)
c.682-3C>G (n.682-3C>G)
c.436-3C>G (n.436-3C>G)
c.688-3C>G (n.688-3C>G)
n.859-3C>G
 dbSNP
15g.43252939G=CA2173102688TGM5c.685-3C= (n.685-3C=)
n.154-3C=
c.439-3C= (n.439-3C=)
c.682-3C= (n.682-3C=)
c.436-3C= (n.436-3C=)
c.688-3C= (n.688-3C=)
n.859-3C=
15g.43252941A>TCA2628101012TGM5c.685-5T>A (n.685-5T>A)
n.154-5T>A
c.439-5T>A (n.439-5T>A)
c.682-5T>A (n.682-5T>A)
c.436-5T>A (n.436-5T>A)
c.688-5T>A (n.688-5T>A)
n.859-5T>A
 gnomAD v4
15g.43252942G>ACA7521233TGM5c.685-6C>T (n.685-6C>T)
n.154-6C>T
c.439-6C>T (n.439-6C>T)
c.682-6C>T (n.682-6C>T)
c.436-6C>T (n.436-6C>T)
c.688-6C>T (n.688-6C>T)
n.859-6C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252942G=CA2173102690TGM5c.685-6C= (n.685-6C=)
n.154-6C=
c.439-6C= (n.439-6C=)
c.682-6C= (n.682-6C=)
c.436-6C= (n.436-6C=)
c.688-6C= (n.688-6C=)
n.859-6C=
15g.43252944G>ACA7521234TGM5c.685-8C>T (n.685-8C>T)
n.154-8C>T
c.439-8C>T (n.439-8C>T)
c.682-8C>T (n.682-8C>T)
c.436-8C>T (n.436-8C>T)
c.688-8C>T (n.688-8C>T)
n.859-8C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252944G>CCA7521235TGM5c.685-8C>G (n.685-8C>G)
n.154-8C>G
c.439-8C>G (n.439-8C>G)
c.682-8C>G (n.682-8C>G)
c.436-8C>G (n.436-8C>G)
c.688-8C>G (n.688-8C>G)
n.859-8C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252944G=CA2173102691TGM5c.685-8C= (n.685-8C=)
n.154-8C=
c.439-8C= (n.439-8C=)
c.682-8C= (n.682-8C=)
c.436-8C= (n.436-8C=)
c.688-8C= (n.688-8C=)
n.859-8C=
15g.43252944G>TCA2575701577TGM5c.685-8C>A (n.685-8C>A)
n.154-8C>A
c.439-8C>A (n.439-8C>A)
c.682-8C>A (n.682-8C>A)
c.436-8C>A (n.436-8C>A)
c.688-8C>A (n.688-8C>A)
n.859-8C>A
 gnomAD v4
15g.43252946delCA618003369TGM5c.685-9del (n.685-9del)
n.154-9del
c.439-9del (n.439-9del)
c.682-9del (n.682-9del)
c.436-9del (n.436-9del)
c.688-9del (n.688-9del)
n.859-9del
 gnomAD v2 gnomAD v4
15g.43252946A=CA2173102692TGM5c.685-10T= (n.685-10T=)
n.154-10T=
c.439-10T= (n.439-10T=)
c.682-10T= (n.682-10T=)
c.436-10T= (n.436-10T=)
c.688-10T= (n.688-10T=)
n.859-10T=
15g.43252946A>CCA618003370TGM5c.685-10T>G (n.685-10T>G)
n.154-10T>G
c.439-10T>G (n.439-10T>G)
c.682-10T>G (n.682-10T>G)
c.436-10T>G (n.436-10T>G)
c.688-10T>G (n.688-10T>G)
n.859-10T>G
 dbSNP gnomAD v2 gnomAD v4
15g.43252947G>ACA2628101013TGM5c.685-11C>T (n.685-11C>T)
n.154-11C>T
c.439-11C>T (n.439-11C>T)
c.682-11C>T (n.682-11C>T)
c.436-11C>T (n.436-11C>T)
c.688-11C>T (n.688-11C>T)
n.859-11C>T
 gnomAD v4
15g.43252947G>TCA2628101014TGM5c.685-11C>A (n.685-11C>A)
n.154-11C>A
c.439-11C>A (n.439-11C>A)
c.682-11C>A (n.682-11C>A)
c.436-11C>A (n.436-11C>A)
c.688-11C>A (n.688-11C>A)
n.859-11C>A
 gnomAD v4
15g.43252949C>TCA2575701578TGM5c.685-13G>A (n.685-13G>A)
n.154-13G>A
c.439-13G>A (n.439-13G>A)
c.682-13G>A (n.682-13G>A)
c.436-13G>A (n.436-13G>A)
c.688-13G>A (n.688-13G>A)
n.859-13G>A
15g.43252950A=CA2173102693TGM5c.685-14T= (n.685-14T=)
n.154-14T=
c.439-14T= (n.439-14T=)
c.682-14T= (n.682-14T=)
c.436-14T= (n.436-14T=)
c.688-14T= (n.688-14T=)
n.859-14T=
15g.43252950A>GCA618003371TGM5c.685-14T>C (n.685-14T>C)
n.154-14T>C
c.439-14T>C (n.439-14T>C)
c.682-14T>C (n.682-14T>C)
c.436-14T>C (n.436-14T>C)
c.688-14T>C (n.688-14T>C)
n.859-14T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.43252951T>CCA712969065TGM5c.685-15A>G (n.685-15A>G)
n.154-15A>G
c.439-15A>G (n.439-15A>G)
c.682-15A>G (n.682-15A>G)
c.436-15A>G (n.436-15A>G)
c.688-15A>G (n.688-15A>G)
n.859-15A>G
 dbSNP
15g.43252951T=CA2173102694TGM5c.685-15A= (n.685-15A=)
n.154-15A=
c.439-15A= (n.439-15A=)
c.682-15A= (n.682-15A=)
c.436-15A= (n.436-15A=)
c.688-15A= (n.688-15A=)
n.859-15A=
15g.43252952A=CA2173102695TGM5c.685-16T= (n.685-16T=)
n.154-16T=
c.439-16T= (n.439-16T=)
c.682-16T= (n.682-16T=)
c.436-16T= (n.436-16T=)
c.688-16T= (n.688-16T=)
n.859-16T=
15g.43252952A>CCA969182888TGM5c.685-16T>G (n.685-16T>G)
n.154-16T>G
c.439-16T>G (n.439-16T>G)
c.682-16T>G (n.682-16T>G)
c.436-16T>G (n.436-16T>G)
c.688-16T>G (n.688-16T>G)
n.859-16T>G
 dbSNP gnomAD v3 gnomAD v4
15g.43252953T>CCA7521236TGM5c.685-17A>G (n.685-17A>G)
n.154-17A>G
c.439-17A>G (n.439-17A>G)
c.682-17A>G (n.682-17A>G)
c.436-17A>G (n.436-17A>G)
c.688-17A>G (n.688-17A>G)
n.859-17A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.43252953T>GCA618003372TGM5c.685-17A>C (n.685-17A>C)
n.154-17A>C
c.439-17A>C (n.439-17A>C)
c.682-17A>C (n.682-17A>C)
c.436-17A>C (n.436-17A>C)
c.688-17A>C (n.688-17A>C)
n.859-17A>C
 dbSNP gnomAD v2 gnomAD v4
15g.43252953T=CA2173102696TGM5c.685-17A= (n.685-17A=)
n.154-17A=
c.439-17A= (n.439-17A=)
c.682-17A= (n.682-17A=)
c.436-17A= (n.436-17A=)
c.688-17A= (n.688-17A=)
n.859-17A=
15g.43252954A>GCA655910543TGM5c.685-18T>C (n.685-18T>C)
n.154-18T>C
c.439-18T>C (n.439-18T>C)
c.682-18T>C (n.682-18T>C)
c.436-18T>C (n.436-18T>C)
c.688-18T>C (n.688-18T>C)
n.859-18T>C
 gnomAD v4 COSMIC
15g.43252955G>ACA2575701579TGM5c.685-19C>T (n.685-19C>T)
n.154-19C>T
c.439-19C>T (n.439-19C>T)
c.682-19C>T (n.682-19C>T)
c.436-19C>T (n.436-19C>T)
c.688-19C>T (n.688-19C>T)
n.859-19C>T
 gnomAD v4
15g.43252955G=CA2173102697TGM5c.685-19C= (n.685-19C=)
n.154-19C=
c.439-19C= (n.439-19C=)
c.682-19C= (n.682-19C=)
c.436-19C= (n.436-19C=)
c.688-19C= (n.688-19C=)
n.859-19C=
15g.43252955G>TCA7521237TGM5c.685-19C>A (n.685-19C>A)
n.154-19C>A
c.439-19C>A (n.439-19C>A)
c.682-19C>A (n.682-19C>A)
c.436-19C>A (n.436-19C>A)
c.688-19C>A (n.688-19C>A)
n.859-19C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.43252956A=CA2173102698TGM5c.685-20T= (n.685-20T=)
n.154-20T=
c.439-20T= (n.439-20T=)
c.682-20T= (n.682-20T=)
c.436-20T= (n.436-20T=)
c.688-20T= (n.688-20T=)
n.859-20T=
15g.43252956_43252957insATTTTTTTATTTATTTTTTCA7521238TGM5c.685-21_685-20insAAAAAATAAATAAAAAAAT (n.685-21_685-20insAAAAAATAAATAAAAAAAT)
n.154-21_154-20insAAAAAATAAATAAAAAAAT
c.439-21_439-20insAAAAAATAAATAAAAAAAT (n.439-21_439-20insAAAAAATAAATAAAAAAAT)
c.682-21_682-20insAAAAAATAAATAAAAAAAT (n.682-21_682-20insAAAAAATAAATAAAAAAAT)
c.436-21_436-20insAAAAAATAAATAAAAAAAT (n.436-21_436-20insAAAAAATAAATAAAAAAAT)
c.688-21_688-20insAAAAAATAAATAAAAAAAT (n.688-21_688-20insAAAAAATAAATAAAAAAAT)
n.859-21_859-20insAAAAAATAAATAAAAAAAT
 dbSNP ExAC
15g.43252957G>TCA2628101015TGM5c.685-21C>A (n.685-21C>A)
n.154-21C>A
c.439-21C>A (n.439-21C>A)
c.682-21C>A (n.682-21C>A)
c.436-21C>A (n.436-21C>A)
c.688-21C>A (n.688-21C>A)
n.859-21C>A
 gnomAD v4

Number of alleles fetched