Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.77901081C>ACA388451927EDNRB,EDNRB-AS1c.928G>T (p.Ala310Ser)
c.406G>T (p.Ala136Ser)
c.1198G>T (p.Ala400Ser)
n.1695-6611C>A
 COSMIC
13g.77901081C=CA2103860871EDNRB,EDNRB-AS1c.928G= (p.Ala310=)
c.406G= (p.Ala136=)
c.1198G= (p.Ala400=)
n.1695-6611C=
13g.77901081C>GCA388451928EDNRB,EDNRB-AS1c.928G>C (p.Ala310Pro)
c.406G>C (p.Ala136Pro)
c.1198G>C (p.Ala400Pro)
n.1695-6611C>G
13g.77901081C>TCA253048128EDNRB,EDNRB-AS1c.928G>A (p.Ala310Thr)
c.406G>A (p.Ala136Thr)
c.1198G>A (p.Ala400Thr)
n.1695-6611C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.77901082A=CA2103860876EDNRB,EDNRB-AS1c.927T= (p.Ile309=)
c.405T= (p.Ile135=)
c.1197T= (p.Ile399=)
n.1695-6610A=
13g.77901082A>CCA388451929EDNRB,EDNRB-AS1c.927T>G (p.Ile309Met)
c.405T>G (p.Ile135Met)
c.1197T>G (p.Ile399Met)
n.1695-6610A>C
 dbSNP
13g.77901082A>GCA484395425EDNRB,EDNRB-AS1c.927T>C (p.Ile309=)
c.405T>C (p.Ile135=)
c.1197T>C (p.Ile399=)
n.1695-6610A>G
13g.77901082A>TCA484395426EDNRB,EDNRB-AS1c.927T>A (p.Ile309=)
c.405T>A (p.Ile135=)
c.1197T>A (p.Ile399=)
n.1695-6610A>T
13g.77901083A>CCA388451930EDNRB,EDNRB-AS1c.926T>G (p.Ile309Ser)
c.404T>G (p.Ile135Ser)
c.1196T>G (p.Ile399Ser)
n.1695-6609A>C
13g.77901083A>GCA388451931EDNRB,EDNRB-AS1c.926T>C (p.Ile309Thr)
c.404T>C (p.Ile135Thr)
c.1196T>C (p.Ile399Thr)
n.1695-6609A>G
13g.77901083A>TCA388451932EDNRB,EDNRB-AS1c.926T>A (p.Ile309Asn)
c.404T>A (p.Ile135Asn)
c.1196T>A (p.Ile399Asn)
n.1695-6609A>T
13g.77901084T>ACA388451933EDNRB,EDNRB-AS1c.925A>T (p.Ile309Phe)
c.403A>T (p.Ile135Phe)
c.1195A>T (p.Ile399Phe)
n.1695-6608T>A
13g.77901084T>CCA388451934EDNRB,EDNRB-AS1c.925A>G (p.Ile309Val)
c.403A>G (p.Ile135Val)
c.1195A>G (p.Ile399Val)
n.1695-6608T>C
13g.77901084T>GCA388451935EDNRB,EDNRB-AS1c.925A>C (p.Ile309Leu)
c.403A>C (p.Ile135Leu)
c.1195A>C (p.Ile399Leu)
n.1695-6608T>G
13g.77901085C>ACA388451936EDNRB,EDNRB-AS1c.924G>T (p.Gln308His)
c.402G>T (p.Gln134His)
c.1194G>T (p.Gln398His)
n.1695-6607C>A
 ClinVar dbSNP gnomAD v4
13g.77901085C=CA2103860883EDNRB,EDNRB-AS1c.924G= (p.Gln308=)
c.402G= (p.Gln134=)
c.1194G= (p.Gln398=)
n.1695-6607C=
13g.77901085C>GCA388451937EDNRB,EDNRB-AS1c.924G>C (p.Gln308His)
c.402G>C (p.Gln134His)
c.1194G>C (p.Gln398His)
n.1695-6607C>G
 dbSNP
13g.77901085C>TCA484395427EDNRB,EDNRB-AS1c.924G>A (p.Gln308=)
c.402G>A (p.Gln134=)
c.1194G>A (p.Gln398=)
n.1695-6607C>T
13g.77901086T>ACA388451940EDNRB,EDNRB-AS1c.923A>T (p.Gln308Leu)
c.401A>T (p.Gln134Leu)
c.1193A>T (p.Gln398Leu)
n.1695-6606T>A
13g.77901086T>CCA388451939EDNRB,EDNRB-AS1c.923A>G (p.Gln308Arg)
c.401A>G (p.Gln134Arg)
c.1193A>G (p.Gln398Arg)
n.1695-6606T>C
13g.77901086T>GCA388451938EDNRB,EDNRB-AS1c.923A>C (p.Gln308Pro)
c.401A>C (p.Gln134Pro)
c.1193A>C (p.Gln398Pro)
n.1695-6606T>G
13g.77901087G>ACA388451941EDNRB,EDNRB-AS1c.922C>T (p.Gln308Ter)
c.400C>T (p.Gln134Ter)
c.1192C>T (p.Gln398Ter)
n.1695-6605G>A
13g.77901087G>CCA388451942EDNRB,EDNRB-AS1c.922C>G (p.Gln308Glu)
c.400C>G (p.Gln134Glu)
c.1192C>G (p.Gln398Glu)
n.1695-6605G>C
13g.77901087G=CA2103860890EDNRB,EDNRB-AS1c.922C= (p.Gln308=)
c.400C= (p.Gln134=)
c.1192C= (p.Gln398=)
n.1695-6605G=
13g.77901087G>TCA7012219EDNRB,EDNRB-AS1c.922C>A (p.Gln308Lys)
c.400C>A (p.Gln134Lys)
c.1192C>A (p.Gln398Lys)
n.1695-6605G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.77901088C>ACA388451943EDNRB,EDNRB-AS1c.921G>T (p.Met307Ile)
c.399G>T (p.Met133Ile)
c.1191G>T (p.Met397Ile)
n.1695-6604C>A
13g.77901088C=CA2103860892EDNRB,EDNRB-AS1c.921G= (p.Met307=)
c.399G= (p.Met133=)
c.1191G= (p.Met397=)
n.1695-6604C=
13g.77901088C>GCA388451944EDNRB,EDNRB-AS1c.921G>C (p.Met307Ile)
c.399G>C (p.Met133Ile)
c.1191G>C (p.Met397Ile)
n.1695-6604C>G
 gnomAD v4
13g.77901088C>TCA388451945EDNRB,EDNRB-AS1c.921G>A (p.Met307Ile)
c.399G>A (p.Met133Ile)
c.1191G>A (p.Met397Ile)
n.1695-6604C>T
 dbSNP gnomAD v4
13g.77901089A>CCA388451946EDNRB,EDNRB-AS1c.920T>G (p.Met307Arg)
c.398T>G (p.Met133Arg)
c.1190T>G (p.Met397Arg)
n.1695-6603A>C
 gnomAD v4
13g.77901089A>GCA388451947EDNRB,EDNRB-AS1c.920T>C (p.Met307Thr)
c.398T>C (p.Met133Thr)
c.1190T>C (p.Met397Thr)
n.1695-6603A>G
 gnomAD v4
13g.77901089A>TCA388451948EDNRB,EDNRB-AS1c.920T>A (p.Met307Lys)
c.398T>A (p.Met133Lys)
c.1190T>A (p.Met397Lys)
n.1695-6603A>T
13g.77901090T>ACA388451949EDNRB,EDNRB-AS1c.919A>T (p.Met307Leu)
c.397A>T (p.Met133Leu)
c.1189A>T (p.Met397Leu)
n.1695-6602T>A
13g.77901090T>CCA388451950EDNRB,EDNRB-AS1c.919A>G (p.Met307Val)
c.397A>G (p.Met133Val)
c.1189A>G (p.Met397Val)
n.1695-6602T>C
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
13g.77901090T>GCA388451951EDNRB,EDNRB-AS1c.919A>C (p.Met307Leu)
c.397A>C (p.Met133Leu)
c.1189A>C (p.Met397Leu)
n.1695-6602T>G
13g.77901090T=CA2103860899EDNRB,EDNRB-AS1c.919A= (p.Met307=)
c.397A= (p.Met133=)
c.1189A= (p.Met397=)
n.1695-6602T=
13g.77901091G>ACA7012220EDNRB,EDNRB-AS1c.918C>T (p.Gly306=)
c.396C>T (p.Gly132=)
c.1188C>T (p.Gly396=)
n.1695-6601G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.77901091G>CCA484395429EDNRB,EDNRB-AS1c.918C>G (p.Gly306=)
c.396C>G (p.Gly132=)
c.1188C>G (p.Gly396=)
n.1695-6601G>C
13g.77901091G=CA2103860905EDNRB,EDNRB-AS1c.918C= (p.Gly306=)
c.396C= (p.Gly132=)
c.1188C= (p.Gly396=)
n.1695-6601G=
13g.77901091G>TCA484395428EDNRB,EDNRB-AS1c.918C>A (p.Gly306=)
c.396C>A (p.Gly132=)
c.1188C>A (p.Gly396=)
n.1695-6601G>T
13g.77901092C>ACA388451954EDNRB,EDNRB-AS1c.917G>T (p.Gly306Val)
c.395G>T (p.Gly132Val)
c.1187G>T (p.Gly396Val)
n.1695-6600C>A
 dbSNP
13g.77901092C>GCA388451952EDNRB,EDNRB-AS1c.917G>C (p.Gly306Ala)
c.395G>C (p.Gly132Ala)
c.1187G>C (p.Gly396Ala)
n.1695-6600C>G
13g.77901092C>TCA388451953EDNRB,EDNRB-AS1c.917G>A (p.Gly306Asp)
c.395G>A (p.Gly132Asp)
c.1187G>A (p.Gly396Asp)
n.1695-6600C>T
13g.77901093C>ACA388451955EDNRB,EDNRB-AS1c.916G>T (p.Gly306Cys)
c.394G>T (p.Gly132Cys)
c.1186G>T (p.Gly396Cys)
n.1695-6599C>A
13g.77901093C>GCA388451956EDNRB,EDNRB-AS1c.916G>C (p.Gly306Arg)
c.394G>C (p.Gly132Arg)
c.1186G>C (p.Gly396Arg)
n.1695-6599C>G
13g.77901093C>TCA388451957EDNRB,EDNRB-AS1c.916G>A (p.Gly306Ser)
c.394G>A (p.Gly132Ser)
c.1186G>A (p.Gly396Ser)
n.1695-6599C>T
13g.77901094A=CA2103860914EDNRB,EDNRB-AS1c.915T= (p.Ser305=)
c.393T= (p.Ser131=)
c.1185T= (p.Ser395=)
n.1695-6598A=
13g.77901094A>CCA388451958EDNRB,EDNRB-AS1c.915T>G (p.Ser305Arg)
c.393T>G (p.Ser131Arg)
c.1185T>G (p.Ser395Arg)
n.1695-6598A>C
13g.77901094A>GCA484395430EDNRB,EDNRB-AS1c.915T>C (p.Ser305=)
c.393T>C (p.Ser131=)
c.1185T>C (p.Ser395=)
n.1695-6598A>G
 dbSNP gnomAD v3 gnomAD v4
13g.77901094A>TCA388451959EDNRB,EDNRB-AS1c.915T>A (p.Ser305Arg)
c.393T>A (p.Ser131Arg)
c.1185T>A (p.Ser395Arg)
n.1695-6598A>T
13g.77901095C>ACA388451960EDNRB,EDNRB-AS1c.914G>T (p.Ser305Ile)
c.392G>T (p.Ser131Ile)
c.1184G>T (p.Ser395Ile)
n.1695-6597C>A
13g.77901095C=CA2018007874EDNRB,EDNRB-AS1c.914G= (p.Ser305=)
c.392G= (p.Ser131=)
c.1184G= (p.Ser395=)
n.1695-6597C=
13g.77901095C>GCA388451961EDNRB,EDNRB-AS1c.914G>C (p.Ser305Thr)
c.392G>C (p.Ser131Thr)
c.1184G>C (p.Ser395Thr)
n.1695-6597C>G
 gnomAD v4
13g.77901095C>TCA257563EDNRB,EDNRB-AS1c.914G>A (p.Ser305Asn)
c.392G>A (p.Ser131Asn)
c.1184G>A (p.Ser395Asn)
n.1695-6597C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.77901096T>ACA388451962EDNRB,EDNRB-AS1c.913A>T (p.Ser305Cys)
c.391A>T (p.Ser131Cys)
c.1183A>T (p.Ser395Cys)
n.1695-6596T>A
13g.77901096T>CCA388451963EDNRB,EDNRB-AS1c.913A>G (p.Ser305Gly)
c.391A>G (p.Ser131Gly)
c.1183A>G (p.Ser395Gly)
n.1695-6596T>C
13g.77901096T>GCA388451964EDNRB,EDNRB-AS1c.913A>C (p.Ser305Arg)
c.391A>C (p.Ser131Arg)
c.1183A>C (p.Ser395Arg)
n.1695-6596T>G
 COSMIC COSMIC
13g.77901099delCA2580087796EDNRB,EDNRB-AS1c.913del (p.Ser305ValfsTer7)
c.391del (p.Ser131ValfsTer7)
c.1183del (p.Ser395ValfsTer7)
n.1695-6593del
 ClinVar
13g.77901097T>ACA388451966EDNRB,EDNRB-AS1c.912A>T (p.Lys304Asn)
c.390A>T (p.Lys130Asn)
c.1182A>T (p.Lys394Asn)
n.1695-6595T>A
13g.77901097T>CCA7012221EDNRB,EDNRB-AS1c.912A>G (p.Lys304=)
c.390A>G (p.Lys130=)
c.1182A>G (p.Lys394=)
n.1695-6595T>C
 dbSNP ExAC gnomAD v2
13g.77901097T>GCA388451965EDNRB,EDNRB-AS1c.912A>C (p.Lys304Asn)
c.390A>C (p.Lys130Asn)
c.1182A>C (p.Lys394Asn)
n.1695-6595T>G
 dbSNP gnomAD v2 gnomAD v4
13g.77901097T=CA2103860931EDNRB,EDNRB-AS1c.912A= (p.Lys304=)
c.390A= (p.Lys130=)
c.1182A= (p.Lys394=)
n.1695-6595T=
13g.77901098T>ACA7012222EDNRB,EDNRB-AS1c.911A>T (p.Lys304Ile)
c.389A>T (p.Lys130Ile)
c.1181A>T (p.Lys394Ile)
n.1695-6594T>A
 dbSNP ExAC gnomAD v2
13g.77901098T>CCA388451968EDNRB,EDNRB-AS1c.911A>G (p.Lys304Arg)
c.389A>G (p.Lys130Arg)
c.1181A>G (p.Lys394Arg)
n.1695-6594T>C
13g.77901098T>GCA388451967EDNRB,EDNRB-AS1c.911A>C (p.Lys304Thr)
c.389A>C (p.Lys130Thr)
c.1181A>C (p.Lys394Thr)
n.1695-6594T>G
13g.77901098T=CA2103860937EDNRB,EDNRB-AS1c.911A= (p.Lys304=)
c.389A= (p.Lys130=)
c.1181A= (p.Lys394=)
n.1695-6594T=
13g.77901099T>ACA388451969EDNRB,EDNRB-AS1c.910A>T (p.Lys304Ter)
c.388A>T (p.Lys130Ter)
c.1180A>T (p.Lys394Ter)
n.1695-6593T>A
13g.77901099T>CCA388451971EDNRB,EDNRB-AS1c.910A>G (p.Lys304Glu)
c.388A>G (p.Lys130Glu)
c.1180A>G (p.Lys394Glu)
n.1695-6593T>C
13g.77901099T>GCA388451970EDNRB,EDNRB-AS1c.910A>C (p.Lys304Gln)
c.388A>C (p.Lys130Gln)
c.1180A>C (p.Lys394Gln)
n.1695-6593T>G
13g.77901100C>ACA388451972EDNRB,EDNRB-AS1c.909G>T (p.Lys303Asn)
c.387G>T (p.Lys129Asn)
c.1179G>T (p.Lys393Asn)
n.1695-6592C>A
13g.77901100C>GCA388451973EDNRB,EDNRB-AS1c.909G>C (p.Lys303Asn)
c.387G>C (p.Lys129Asn)
c.1179G>C (p.Lys393Asn)
n.1695-6592C>G
13g.77901100C>TCA484395431EDNRB,EDNRB-AS1c.909G>A (p.Lys303=)
c.387G>A (p.Lys129=)
c.1179G>A (p.Lys393=)
n.1695-6592C>T
13g.77901101T>ACA388451974EDNRB,EDNRB-AS1c.908A>T (p.Lys303Met)
c.386A>T (p.Lys129Met)
c.1178A>T (p.Lys393Met)
n.1695-6591T>A
13g.77901101T>CCA388451975EDNRB,EDNRB-AS1c.908A>G (p.Lys303Arg)
c.386A>G (p.Lys129Arg)
c.1178A>G (p.Lys393Arg)
n.1695-6591T>C
 dbSNP gnomAD v2 gnomAD v4
13g.77901101T>GCA388451976EDNRB,EDNRB-AS1c.908A>C (p.Lys303Thr)
c.386A>C (p.Lys129Thr)
c.1178A>C (p.Lys393Thr)
n.1695-6591T>G
13g.77901101T=CA2103860942EDNRB,EDNRB-AS1c.908A= (p.Lys303=)
c.386A= (p.Lys129=)
c.1178A= (p.Lys393=)
n.1695-6591T=
13g.77901102T>ACA388451977EDNRB,EDNRB-AS1c.907A>T (p.Lys303Ter)
c.385A>T (p.Lys129Ter)
c.1177A>T (p.Lys393Ter)
n.1695-6590T>A
13g.77901102T>CCA388451978EDNRB,EDNRB-AS1c.907A>G (p.Lys303Glu)
c.385A>G (p.Lys129Glu)
c.1177A>G (p.Lys393Glu)
n.1695-6590T>C
13g.77901102T>GCA388451979EDNRB,EDNRB-AS1c.907A>C (p.Lys303Gln)
c.385A>C (p.Lys129Gln)
c.1177A>C (p.Lys393Gln)
n.1695-6590T>G
13g.77901103T>ACA388451980EDNRB,EDNRB-AS1c.906A>T (p.Arg302Ser)
c.384A>T (p.Arg128Ser)
c.1176A>T (p.Arg392Ser)
n.1695-6589T>A
13g.77901103T>CCA484395432EDNRB,EDNRB-AS1c.906A>G (p.Arg302=)
c.384A>G (p.Arg128=)
c.1176A>G (p.Arg392=)
n.1695-6589T>C
13g.77901103T>GCA388451981EDNRB,EDNRB-AS1c.906A>C (p.Arg302Ser)
c.384A>C (p.Arg128Ser)
c.1176A>C (p.Arg392Ser)
n.1695-6589T>G
13g.77901104C>ACA388451982EDNRB,EDNRB-AS1c.905G>T (p.Arg302Ile)
c.383G>T (p.Arg128Ile)
c.1175G>T (p.Arg392Ile)
n.1695-6588C>A
13g.77901104C=CA2103860949EDNRB,EDNRB-AS1c.905G= (p.Arg302=)
c.383G= (p.Arg128=)
c.1175G= (p.Arg392=)
n.1695-6588C=
13g.77901104C>GCA388451983EDNRB,EDNRB-AS1c.905G>C (p.Arg302Thr)
c.383G>C (p.Arg128Thr)
c.1175G>C (p.Arg392Thr)
n.1695-6588C>G
 ClinVar
13g.77901104C>TCA388451984EDNRB,EDNRB-AS1c.905G>A (p.Arg302Lys)
c.383G>A (p.Arg128Lys)
c.1175G>A (p.Arg392Lys)
n.1695-6588C>T
 dbSNP gnomAD v3 gnomAD v4
13g.77901105T>ACA388451985EDNRB,EDNRB-AS1c.904A>T (p.Arg302Ter)
c.382A>T (p.Arg128Ter)
c.1174A>T (p.Arg392Ter)
n.1695-6587T>A
13g.77901105T>CCA388451986EDNRB,EDNRB-AS1c.904A>G (p.Arg302Gly)
c.382A>G (p.Arg128Gly)
c.1174A>G (p.Arg392Gly)
n.1695-6587T>C
13g.77901105T>GCA484395433EDNRB,EDNRB-AS1c.904A>C (p.Arg302=)
c.382A>C (p.Arg128=)
c.1174A>C (p.Arg392=)
n.1695-6587T>G
13g.77901106C>ACA388451987EDNRB,EDNRB-AS1c.903G>T (p.Leu301Phe)
c.381G>T (p.Leu127Phe)
c.1173G>T (p.Leu391Phe)
n.1695-6586C>A
13g.77901106C>GCA388451988EDNRB,EDNRB-AS1c.903G>C (p.Leu301Phe)
c.381G>C (p.Leu127Phe)
c.1173G>C (p.Leu391Phe)
n.1695-6586C>G
13g.77901106C>TCA484395434EDNRB,EDNRB-AS1c.903G>A (p.Leu301=)
c.381G>A (p.Leu127=)
c.1173G>A (p.Leu391=)
n.1695-6586C>T
13g.77901106_77901107delinsCACA2103860954EDNRB,EDNRB-AS1c.902_903delinsTG (p.Leu301=)
c.380_381delinsTG (p.Leu127=)
c.1172_1173delinsTG (p.Leu391=)
n.1695-6586_1695-6585delinsCA
13g.77901107A=CA2103860960EDNRB,EDNRB-AS1c.902T= (p.Leu301=)
c.380T= (p.Leu127=)
c.1172T= (p.Leu391=)
n.1695-6585A=
13g.77901107A>CCA388451989EDNRB,EDNRB-AS1c.902T>G (p.Leu301Trp)
c.380T>G (p.Leu127Trp)
c.1172T>G (p.Leu391Trp)
n.1695-6585A>C
13g.77901107A>GCA388451990EDNRB,EDNRB-AS1c.902T>C (p.Leu301Ser)
c.380T>C (p.Leu127Ser)
c.1172T>C (p.Leu391Ser)
n.1695-6585A>G
 dbSNP gnomAD v2 gnomAD v4
13g.77901107A>TCA253048129EDNRB,EDNRB-AS1c.902T>A (p.Leu301Ter)
c.380T>A (p.Leu127Ter)
c.1172T>A (p.Leu391Ter)
n.1695-6585A>T
 dbSNP
13g.77901108delCA7012223EDNRB,EDNRB-AS1c.902del (p.Leu301Ter)
c.380del (p.Leu127Ter)
c.1172del (p.Leu391Ter)
n.1695-6584del
 dbSNP ExAC gnomAD v3 gnomAD v4
13g.77901108A>CCA388451991EDNRB,EDNRB-AS1c.901T>G (p.Leu301Val)
c.379T>G (p.Leu127Val)
c.1171T>G (p.Leu391Val)
n.1695-6584A>C
13g.77901108A>GCA484395435EDNRB,EDNRB-AS1c.901T>C (p.Leu301=)
c.379T>C (p.Leu127=)
c.1171T>C (p.Leu391=)
n.1695-6584A>G
13g.77901108A>TCA388451992EDNRB,EDNRB-AS1c.901T>A (p.Leu301Met)
c.379T>A (p.Leu127Met)
c.1171T>A (p.Leu391Met)
n.1695-6584A>T
13g.77901109C>ACA388451993EDNRB,EDNRB-AS1c.900G>T (p.Met300Ile)
c.378G>T (p.Met126Ile)
c.1170G>T (p.Met390Ile)
n.1695-6583C>A
13g.77901109C>GCA388451994EDNRB,EDNRB-AS1c.900G>C (p.Met300Ile)
c.378G>C (p.Met126Ile)
c.1170G>C (p.Met390Ile)
n.1695-6583C>G
13g.77901109C>TCA388451995EDNRB,EDNRB-AS1c.900G>A (p.Met300Ile)
c.378G>A (p.Met126Ile)
c.1170G>A (p.Met390Ile)
n.1695-6583C>T
13g.77901110A>CCA388451996EDNRB,EDNRB-AS1c.899T>G (p.Met300Arg)
c.377T>G (p.Met126Arg)
c.1169T>G (p.Met390Arg)
n.1695-6582A>C
13g.77901110A>GCA388451997EDNRB,EDNRB-AS1c.899T>C (p.Met300Thr)
c.377T>C (p.Met126Thr)
c.1169T>C (p.Met390Thr)
n.1695-6582A>G
13g.77901110A>TCA388451998EDNRB,EDNRB-AS1c.899T>A (p.Met300Lys)
c.377T>A (p.Met126Lys)
c.1169T>A (p.Met390Lys)
n.1695-6582A>T
13g.77901111T>ACA388452001EDNRB,EDNRB-AS1c.898A>T (p.Met300Leu)
c.376A>T (p.Met126Leu)
c.1168A>T (p.Met390Leu)
n.1695-6581T>A
 dbSNP gnomAD v4
13g.77901111T>CCA388451999EDNRB,EDNRB-AS1c.898A>G (p.Met300Val)
c.376A>G (p.Met126Val)
c.1168A>G (p.Met390Val)
n.1695-6581T>C
 gnomAD v4
13g.77901111T>GCA388452000EDNRB,EDNRB-AS1c.898A>C (p.Met300Leu)
c.376A>C (p.Met126Leu)
c.1168A>C (p.Met390Leu)
n.1695-6581T>G
13g.77901111T=CA2103860963EDNRB,EDNRB-AS1c.898A= (p.Met300=)
c.376A= (p.Met126=)
c.1168A= (p.Met390=)
n.1695-6581T=
13g.77901112T>ACA388452002EDNRB,EDNRB-AS1c.897A>T (p.Glu299Asp)
c.375A>T (p.Glu125Asp)
c.1167A>T (p.Glu389Asp)
n.1695-6580T>A
13g.77901112T>CCA484395436EDNRB,EDNRB-AS1c.897A>G (p.Glu299=)
c.375A>G (p.Glu125=)
c.1167A>G (p.Glu389=)
n.1695-6580T>C
13g.77901112T>GCA388452003EDNRB,EDNRB-AS1c.897A>C (p.Glu299Asp)
c.375A>C (p.Glu125Asp)
c.1167A>C (p.Glu389Asp)
n.1695-6580T>G
13g.77901113T>ACA388452004EDNRB,EDNRB-AS1c.896A>T (p.Glu299Val)
c.374A>T (p.Glu125Val)
c.1166A>T (p.Glu389Val)
n.1695-6579T>A
13g.77901113T>CCA388452005EDNRB,EDNRB-AS1c.896A>G (p.Glu299Gly)
c.374A>G (p.Glu125Gly)
c.1166A>G (p.Glu389Gly)
n.1695-6579T>C
13g.77901113T>GCA388452006EDNRB,EDNRB-AS1c.896A>C (p.Glu299Ala)
c.374A>C (p.Glu125Ala)
c.1166A>C (p.Glu389Ala)
n.1695-6579T>G
13g.77901114C>ACA388452007EDNRB,EDNRB-AS1c.895G>T (p.Glu299Ter)
c.373G>T (p.Glu125Ter)
c.1165G>T (p.Glu389Ter)
n.1695-6578C>A
13g.77901114C=CA2103860970EDNRB,EDNRB-AS1c.895G= (p.Glu299=)
c.373G= (p.Glu125=)
c.1165G= (p.Glu389=)
n.1695-6578C=
13g.77901114C>GCA388452008EDNRB,EDNRB-AS1c.895G>C (p.Glu299Gln)
c.373G>C (p.Glu125Gln)
c.1165G>C (p.Glu389Gln)
n.1695-6578C>G
13g.77901114C>TCA388452009EDNRB,EDNRB-AS1c.895G>A (p.Glu299Lys)
c.373G>A (p.Glu125Lys)
c.1165G>A (p.Glu389Lys)
n.1695-6578C>T
 dbSNP
13g.77901115A>CCA388452010EDNRB,EDNRB-AS1c.894T>G (p.Cys298Trp)
c.372T>G (p.Cys124Trp)
c.1164T>G (p.Cys388Trp)
n.1695-6577A>C
13g.77901115A>GCA484395437EDNRB,EDNRB-AS1c.894T>C (p.Cys298=)
c.372T>C (p.Cys124=)
c.1164T>C (p.Cys388=)
n.1695-6577A>G
13g.77901115A>TCA388452011EDNRB,EDNRB-AS1c.894T>A (p.Cys298Ter)
c.372T>A (p.Cys124Ter)
c.1164T>A (p.Cys388Ter)
n.1695-6577A>T
13g.77901116C>ACA388452012EDNRB,EDNRB-AS1c.893G>T (p.Cys298Phe)
c.371G>T (p.Cys124Phe)
c.1163G>T (p.Cys388Phe)
n.1695-6576C>A
 COSMIC COSMIC COSMIC
13g.77901116C>GCA388452013EDNRB,EDNRB-AS1c.893G>C (p.Cys298Ser)
c.371G>C (p.Cys124Ser)
c.1163G>C (p.Cys388Ser)
n.1695-6576C>G
13g.77901116C>TCA388452014EDNRB,EDNRB-AS1c.893G>A (p.Cys298Tyr)
c.371G>A (p.Cys124Tyr)
c.1163G>A (p.Cys388Tyr)
n.1695-6576C>T
13g.77901117A>CCA388452017EDNRB,EDNRB-AS1c.892T>G (p.Cys298Gly)
c.370T>G (p.Cys124Gly)
c.1162T>G (p.Cys388Gly)
n.1695-6575A>C
13g.77901117A>GCA388452015EDNRB,EDNRB-AS1c.892T>C (p.Cys298Arg)
c.370T>C (p.Cys124Arg)
c.1162T>C (p.Cys388Arg)
n.1695-6575A>G
13g.77901117A>TCA388452016EDNRB,EDNRB-AS1c.892T>A (p.Cys298Ser)
c.370T>A (p.Cys124Ser)
c.1162T>A (p.Cys388Ser)
n.1695-6575A>T
13g.77901118G>ACA484395440EDNRB,EDNRB-AS1c.891C>T (p.Thr297=)
c.369C>T (p.Thr123=)
c.1161C>T (p.Thr387=)
n.1695-6574G>A
13g.77901118G>CCA484395439EDNRB,EDNRB-AS1c.891C>G (p.Thr297=)
c.369C>G (p.Thr123=)
c.1161C>G (p.Thr387=)
n.1695-6574G>C
 dbSNP gnomAD v3 gnomAD v4
13g.77901118G=CA2103860974EDNRB,EDNRB-AS1c.891C= (p.Thr297=)
c.369C= (p.Thr123=)
c.1161C= (p.Thr387=)
n.1695-6574G=
13g.77901118G>TCA484395438EDNRB,EDNRB-AS1c.891C>A (p.Thr297=)
c.369C>A (p.Thr123=)
c.1161C>A (p.Thr387=)
n.1695-6574G>T
 gnomAD v4
13g.77901119G>ACA388452018EDNRB,EDNRB-AS1c.890C>T (p.Thr297Ile)
c.368C>T (p.Thr123Ile)
c.1160C>T (p.Thr387Ile)
n.1695-6573G>A
 gnomAD v4
13g.77901119G>CCA388452019EDNRB,EDNRB-AS1c.890C>G (p.Thr297Ser)
c.368C>G (p.Thr123Ser)
c.1160C>G (p.Thr387Ser)
n.1695-6573G>C
13g.77901119G>TCA388452020EDNRB,EDNRB-AS1c.890C>A (p.Thr297Asn)
c.368C>A (p.Thr123Asn)
c.1160C>A (p.Thr387Asn)
n.1695-6573G>T
13g.77901120T>ACA388452021EDNRB,EDNRB-AS1c.889A>T (p.Thr297Ser)
c.367A>T (p.Thr123Ser)
c.1159A>T (p.Thr387Ser)
n.1695-6572T>A
13g.77901120T>CCA388452022EDNRB,EDNRB-AS1c.889A>G (p.Thr297Ala)
c.367A>G (p.Thr123Ala)
c.1159A>G (p.Thr387Ala)
n.1695-6572T>C
13g.77901120T>GCA388452023EDNRB,EDNRB-AS1c.889A>C (p.Thr297Pro)
c.367A>C (p.Thr123Pro)
c.1159A>C (p.Thr387Pro)
n.1695-6572T>G
13g.77901121C>ACA388452024EDNRB,EDNRB-AS1c.888G>T (p.Met296Ile)
c.366G>T (p.Met122Ile)
c.1158G>T (p.Met386Ile)
n.1695-6571C>A
13g.77901121C>GCA388452025EDNRB,EDNRB-AS1c.888G>C (p.Met296Ile)
c.366G>C (p.Met122Ile)
c.1158G>C (p.Met386Ile)
n.1695-6571C>G
13g.77901121C>TCA388452026EDNRB,EDNRB-AS1c.888G>A (p.Met296Ile)
c.366G>A (p.Met122Ile)
c.1158G>A (p.Met386Ile)
n.1695-6571C>T
13g.77901122A>CCA388452027EDNRB,EDNRB-AS1c.887T>G (p.Met296Arg)
c.365T>G (p.Met122Arg)
c.1157T>G (p.Met386Arg)
n.1695-6570A>C
13g.77901122A>GCA388452028EDNRB,EDNRB-AS1c.887T>C (p.Met296Thr)
c.365T>C (p.Met122Thr)
c.1157T>C (p.Met386Thr)
n.1695-6570A>G
 ClinVar
13g.77901122A>TCA388452029EDNRB,EDNRB-AS1c.887T>A (p.Met296Lys)
c.365T>A (p.Met122Lys)
c.1157T>A (p.Met386Lys)
n.1695-6570A>T
13g.77901123T>ACA7012224EDNRB,EDNRB-AS1c.886A>T (p.Met296Leu)
c.364A>T (p.Met122Leu)
c.1156A>T (p.Met386Leu)
n.1695-6569T>A
 dbSNP ExAC gnomAD v4
13g.77901123T>CCA388452031EDNRB,EDNRB-AS1c.886A>G (p.Met296Val)
c.364A>G (p.Met122Val)
c.1156A>G (p.Met386Val)
n.1695-6569T>C
 ClinVar gnomAD v4
13g.77901123T>GCA388452030EDNRB,EDNRB-AS1c.886A>C (p.Met296Leu)
c.364A>C (p.Met122Leu)
c.1156A>C (p.Met386Leu)
n.1695-6569T>G
13g.77901123T=CA2103860988EDNRB,EDNRB-AS1c.886A= (p.Met296=)
c.364A= (p.Met122=)
c.1156A= (p.Met386=)
n.1695-6569T=
13g.77901124T>ACA484395441EDNRB,EDNRB-AS1c.885A>T (p.Leu295=)
c.363A>T (p.Leu121=)
c.1155A>T (p.Leu385=)
n.1695-6568T>A
13g.77901124T>CCA484395442EDNRB,EDNRB-AS1c.885A>G (p.Leu295=)
c.363A>G (p.Leu121=)
c.1155A>G (p.Leu385=)
n.1695-6568T>C
13g.77901124T>GCA484395443EDNRB,EDNRB-AS1c.885A>C (p.Leu295=)
c.363A>C (p.Leu121=)
c.1155A>C (p.Leu385=)
n.1695-6568T>G
13g.77901125A>CCA388452032EDNRB,EDNRB-AS1c.884T>G (p.Leu295Arg)
c.362T>G (p.Leu121Arg)
c.1154T>G (p.Leu385Arg)
n.1695-6567A>C
13g.77901125A>GCA388452033EDNRB,EDNRB-AS1c.884T>C (p.Leu295Pro)
c.362T>C (p.Leu121Pro)
c.1154T>C (p.Leu385Pro)
n.1695-6567A>G
 COSMIC COSMIC COSMIC
13g.77901125A>TCA388452034EDNRB,EDNRB-AS1c.884T>A (p.Leu295Gln)
c.362T>A (p.Leu121Gln)
c.1154T>A (p.Leu385Gln)
n.1695-6567A>T
13g.77901126G>ACA7012225EDNRB,EDNRB-AS1c.883C>T (p.Leu295=)
c.361C>T (p.Leu121=)
c.1153C>T (p.Leu385=)
n.1695-6566G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.77901126G>CCA388452035EDNRB,EDNRB-AS1c.883C>G (p.Leu295Val)
c.361C>G (p.Leu121Val)
c.1153C>G (p.Leu385Val)
n.1695-6566G>C
13g.77901126G=CA2103861000EDNRB,EDNRB-AS1c.883C= (p.Leu295=)
c.361C= (p.Leu121=)
c.1153C= (p.Leu385=)
n.1695-6566G=
13g.77901126G>TCA388452036EDNRB,EDNRB-AS1c.883C>A (p.Leu295Ile)
c.361C>A (p.Leu121Ile)
c.1153C>A (p.Leu385Ile)
n.1695-6566G>T
13g.77901127T>ACA484395444EDNRB,EDNRB-AS1c.882A>T (p.Thr294=)
c.360A>T (p.Thr120=)
c.1152A>T (p.Thr384=)
n.1695-6565T>A
13g.77901127T>CCA484395445EDNRB,EDNRB-AS1c.882A>G (p.Thr294=)
c.360A>G (p.Thr120=)
c.1152A>G (p.Thr384=)
n.1695-6565T>C
 dbSNP gnomAD v2 gnomAD v4
13g.77901127T>GCA484395446EDNRB,EDNRB-AS1c.882A>C (p.Thr294=)
c.360A>C (p.Thr120=)
c.1152A>C (p.Thr384=)
n.1695-6565T>G
13g.77901127T=CA2103861020EDNRB,EDNRB-AS1c.882A= (p.Thr294=)
c.360A= (p.Thr120=)
c.1152A= (p.Thr384=)
n.1695-6565T=
13g.77901128G>ACA7012226EDNRB,EDNRB-AS1c.881C>T (p.Thr294Ile)
c.359C>T (p.Thr120Ile)
c.1151C>T (p.Thr384Ile)
n.1695-6564G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.77901128G>CCA388452037EDNRB,EDNRB-AS1c.881C>G (p.Thr294Arg)
c.359C>G (p.Thr120Arg)
c.1151C>G (p.Thr384Arg)
n.1695-6564G>C
13g.77901128G=CA2103861023EDNRB,EDNRB-AS1c.881C= (p.Thr294=)
c.359C= (p.Thr120=)
c.1151C= (p.Thr384=)
n.1695-6564G=
13g.77901128G>TCA388452038EDNRB,EDNRB-AS1c.881C>A (p.Thr294Lys)
c.359C>A (p.Thr120Lys)
c.1151C>A (p.Thr384Lys)
n.1695-6564G>T
13g.77901129T>ACA388452039EDNRB,EDNRB-AS1c.880A>T (p.Thr294Ser)
c.358A>T (p.Thr120Ser)
c.1150A>T (p.Thr384Ser)
n.1695-6563T>A
13g.77901129T>CCA388452040EDNRB,EDNRB-AS1c.880A>G (p.Thr294Ala)
c.358A>G (p.Thr120Ala)
c.1150A>G (p.Thr384Ala)
n.1695-6563T>C
 gnomAD v4
13g.77901129T>GCA388452041EDNRB,EDNRB-AS1c.880A>C (p.Thr294Pro)
c.358A>C (p.Thr120Pro)
c.1150A>C (p.Thr384Pro)
n.1695-6563T>G
13g.77901129T=CA2103861028EDNRB,EDNRB-AS1c.880A= (p.Thr294=)
c.358A= (p.Thr120=)
c.1150A= (p.Thr384=)
n.1695-6563T=
13g.77901130A=CA2103861035EDNRB,EDNRB-AS1c.879T= (p.Tyr293=)
c.357T= (p.Tyr119=)
c.1149T= (p.Tyr383=)
n.1695-6562A=
13g.77901130A>CCA388452043EDNRB,EDNRB-AS1c.879T>G (p.Tyr293Ter)
c.357T>G (p.Tyr119Ter)
c.1149T>G (p.Tyr383Ter)
n.1695-6562A>C
 COSMIC COSMIC COSMIC
13g.77901130A>GCA7012227EDNRB,EDNRB-AS1c.879T>C (p.Tyr293=)
c.357T>C (p.Tyr119=)
c.1149T>C (p.Tyr383=)
n.1695-6562A>G
 dbSNP ExAC gnomAD v2
13g.77901130A>TCA388452042EDNRB,EDNRB-AS1c.879T>A (p.Tyr293Ter)
c.357T>A (p.Tyr119Ter)
c.1149T>A (p.Tyr383Ter)
n.1695-6562A>T
 ClinVar
13g.77901130dupCA658653817EDNRB,EDNRB-AS1c.879dup (p.Thr294TyrfsTer6)
c.357dup (p.Thr120TyrfsTer6)
c.1149dup (p.Thr384TyrfsTer6)
n.1695-6562dup
 ClinVar dbSNP
13g.77901131T>ACA388452044EDNRB,EDNRB-AS1c.878A>T (p.Tyr293Phe)
c.356A>T (p.Tyr119Phe)
c.1148A>T (p.Tyr383Phe)
n.1695-6561T>A
13g.77901131T>CCA388452045EDNRB,EDNRB-AS1c.878A>G (p.Tyr293Cys)
c.356A>G (p.Tyr119Cys)
c.1148A>G (p.Tyr383Cys)
n.1695-6561T>C
13g.77901131T>GCA388452046EDNRB,EDNRB-AS1c.878A>C (p.Tyr293Ser)
c.356A>C (p.Tyr119Ser)
c.1148A>C (p.Tyr383Ser)
n.1695-6561T>G
13g.77901131dupCA16621647EDNRB,EDNRB-AS1c.878dup (p.Tyr293Ter)
c.356dup (p.Tyr119Ter)
c.1148dup (p.Tyr383Ter)
n.1695-6561dup
 ClinVar dbSNP
13g.77901131_77901132delinsTACA2103861040EDNRB,EDNRB-AS1c.877_878delinsTA (p.Tyr293=)
c.355_356delinsTA (p.Tyr119=)
c.1147_1148delinsTA (p.Tyr383=)
n.1695-6561_1695-6560delinsTA
13g.77901132A=CA2103861046EDNRB,EDNRB-AS1c.877T= (p.Tyr293=)
c.355T= (p.Tyr119=)
c.1147T= (p.Tyr383=)
n.1695-6560A=
13g.77901132A>CCA388452047EDNRB,EDNRB-AS1c.877T>G (p.Tyr293Asp)
c.355T>G (p.Tyr119Asp)
c.1147T>G (p.Tyr383Asp)
n.1695-6560A>C
13g.77901132A>GCA388452048EDNRB,EDNRB-AS1c.877T>C (p.Tyr293His)
c.355T>C (p.Tyr119His)
c.1147T>C (p.Tyr383His)
n.1695-6560A>G
 dbSNP gnomAD v2 gnomAD v4
13g.77901132A>TCA388452049EDNRB,EDNRB-AS1c.877T>A (p.Tyr293Asn)
c.355T>A (p.Tyr119Asn)
c.1147T>A (p.Tyr383Asn)
n.1695-6560A>T
13g.77901138dupCA645594802EDNRB,EDNRB-AS1c.877dup (p.Tyr293LeufsTer7)
c.355dup (p.Tyr119LeufsTer7)
c.1147dup (p.Tyr383LeufsTer7)
n.1695-6554dup
 ClinVar dbSNP COSMIC COSMIC COSMIC
13g.77901138delCA7012228EDNRB,EDNRB-AS1c.877del (p.Tyr293IlefsTer3)
c.355del (p.Tyr119IlefsTer3)
c.1147del (p.Tyr383IlefsTer3)
n.1695-6554del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
13g.77901133A=CA2103861052EDNRB,EDNRB-AS1c.876T= (p.Phe292=)
c.354T= (p.Phe118=)
c.1146T= (p.Phe382=)
n.1695-6559A=
13g.77901133A>CCA388452050EDNRB,EDNRB-AS1c.876T>G (p.Phe292Leu)
c.354T>G (p.Phe118Leu)
c.1146T>G (p.Phe382Leu)
n.1695-6559A>C
13g.77901133A>GCA7012229EDNRB,EDNRB-AS1c.876T>C (p.Phe292=)
c.354T>C (p.Phe118=)
c.1146T>C (p.Phe382=)
n.1695-6559A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.77901133A>TCA388452051EDNRB,EDNRB-AS1c.876T>A (p.Phe292Leu)
c.354T>A (p.Phe118Leu)
c.1146T>A (p.Phe382Leu)
n.1695-6559A>T
13g.77901134A>CCA388452052EDNRB,EDNRB-AS1c.875T>G (p.Phe292Cys)
c.353T>G (p.Phe118Cys)
c.1145T>G (p.Phe382Cys)
n.1695-6558A>C
13g.77901134A>GCA388452053EDNRB,EDNRB-AS1c.875T>C (p.Phe292Ser)
c.353T>C (p.Phe118Ser)
c.1145T>C (p.Phe382Ser)
n.1695-6558A>G
13g.77901134A>TCA388452054EDNRB,EDNRB-AS1c.875T>A (p.Phe292Tyr)
c.353T>A (p.Phe118Tyr)
c.1145T>A (p.Phe382Tyr)
n.1695-6558A>T
13g.77901135A>CCA388452056EDNRB,EDNRB-AS1c.874T>G (p.Phe292Val)
c.352T>G (p.Phe118Val)
c.1144T>G (p.Phe382Val)
n.1695-6557A>C
13g.77901135A>GCA388452057EDNRB,EDNRB-AS1c.874T>C (p.Phe292Leu)
c.352T>C (p.Phe118Leu)
c.1144T>C (p.Phe382Leu)
n.1695-6557A>G
 gnomAD v4 COSMIC COSMIC COSMIC
13g.77901135A>TCA388452055EDNRB,EDNRB-AS1c.874T>A (p.Phe292Ile)
c.352T>A (p.Phe118Ile)
c.1144T>A (p.Phe382Ile)
n.1695-6557A>T
13g.77901136A>CCA388452058EDNRB,EDNRB-AS1c.873T>G (p.Phe291Leu)
c.351T>G (p.Phe117Leu)
c.1143T>G (p.Phe381Leu)
n.1695-6556A>C
13g.77901136A>GCA484395447EDNRB,EDNRB-AS1c.873T>C (p.Phe291=)
c.351T>C (p.Phe117=)
c.1143T>C (p.Phe381=)
n.1695-6556A>G
13g.77901136A>TCA388452059EDNRB,EDNRB-AS1c.873T>A (p.Phe291Leu)
c.351T>A (p.Phe117Leu)
c.1143T>A (p.Phe381Leu)
n.1695-6556A>T
13g.77901137A>CCA388452060EDNRB,EDNRB-AS1c.872T>G (p.Phe291Cys)
c.350T>G (p.Phe117Cys)
c.1142T>G (p.Phe381Cys)
n.1695-6555A>C
13g.77901137A>GCA388452061EDNRB,EDNRB-AS1c.872T>C (p.Phe291Ser)
c.350T>C (p.Phe117Ser)
c.1142T>C (p.Phe381Ser)
n.1695-6555A>G
13g.77901137A>TCA388452062EDNRB,EDNRB-AS1c.872T>A (p.Phe291Tyr)
c.350T>A (p.Phe117Tyr)
c.1142T>A (p.Phe381Tyr)
n.1695-6555A>T
13g.77901138A=CA2103861060EDNRB,EDNRB-AS1c.871T= (p.Phe291=)
c.349T= (p.Phe117=)
c.1141T= (p.Phe381=)
n.1695-6554A=
13g.77901138A>CCA388452063EDNRB,EDNRB-AS1c.871T>G (p.Phe291Val)
c.349T>G (p.Phe117Val)
c.1141T>G (p.Phe381Val)
n.1695-6554A>C
13g.77901138A>GCA388452064EDNRB,EDNRB-AS1c.871T>C (p.Phe291Leu)
c.349T>C (p.Phe117Leu)
c.1141T>C (p.Phe381Leu)
n.1695-6554A>G
 dbSNP gnomAD v2 gnomAD v4
13g.77901138A>TCA388452065EDNRB,EDNRB-AS1c.871T>A (p.Phe291Ile)
c.349T>A (p.Phe117Ile)
c.1141T>A (p.Phe381Ile)
n.1695-6554A>T
13g.77901139T>ACA7012230EDNRB,EDNRB-AS1c.870A>T (p.Ala290=)
c.348A>T (p.Ala116=)
c.1140A>T (p.Ala380=)
n.1695-6553T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.77901139T>CCA484395449EDNRB,EDNRB-AS1c.870A>G (p.Ala290=)
c.348A>G (p.Ala116=)
c.1140A>G (p.Ala380=)
n.1695-6553T>C
13g.77901139T>GCA484395448EDNRB,EDNRB-AS1c.870A>C (p.Ala290=)
c.348A>C (p.Ala116=)
c.1140A>C (p.Ala380=)
n.1695-6553T>G
13g.77901139T=CA2103861066EDNRB,EDNRB-AS1c.870A= (p.Ala290=)
c.348A= (p.Ala116=)
c.1140A= (p.Ala380=)
n.1695-6553T=
13g.77901140G>ACA388452066EDNRB,EDNRB-AS1c.869C>T (p.Ala290Val)
c.347C>T (p.Ala116Val)
c.1139C>T (p.Ala380Val)
n.1695-6552G>A
13g.77901140G>CCA388452067EDNRB,EDNRB-AS1c.869C>G (p.Ala290Gly)
c.347C>G (p.Ala116Gly)
c.1139C>G (p.Ala380Gly)
n.1695-6552G>C
13g.77901140G>TCA388452068EDNRB,EDNRB-AS1c.869C>A (p.Ala290Glu)
c.347C>A (p.Ala116Glu)
c.1139C>A (p.Ala380Glu)
n.1695-6552G>T
13g.77901141C>ACA388452071EDNRB,EDNRB-AS1c.868G>T (p.Ala290Ser)
c.346G>T (p.Ala116Ser)
c.1138G>T (p.Ala380Ser)
n.1695-6551C>A
13g.77901141C>GCA388452069EDNRB,EDNRB-AS1c.868G>C (p.Ala290Pro)
c.346G>C (p.Ala116Pro)
c.1138G>C (p.Ala380Pro)
n.1695-6551C>G
13g.77901141C>TCA388452070EDNRB,EDNRB-AS1c.868G>A (p.Ala290Thr)
c.346G>A (p.Ala116Thr)
c.1138G>A (p.Ala380Thr)
n.1695-6551C>T
13g.77901142A>CCA484395450EDNRB,EDNRB-AS1c.867T>G (p.Thr289=)
c.345T>G (p.Thr115=)
c.1137T>G (p.Thr379=)
n.1695-6550A>C
13g.77901142A>GCA484395451EDNRB,EDNRB-AS1c.867T>C (p.Thr289=)
c.345T>C (p.Thr115=)
c.1137T>C (p.Thr379=)
n.1695-6550A>G
13g.77901142A>TCA484395452EDNRB,EDNRB-AS1c.867T>A (p.Thr289=)
c.345T>A (p.Thr115=)
c.1137T>A (p.Thr379=)
n.1695-6550A>T
13g.77901143G>ACA388452072EDNRB,EDNRB-AS1c.866C>T (p.Thr289Ile)
c.344C>T (p.Thr115Ile)
c.1136C>T (p.Thr379Ile)
n.1695-6549G>A
13g.77901143G>CCA388452073EDNRB,EDNRB-AS1c.866C>G (p.Thr289Ser)
c.344C>G (p.Thr115Ser)
c.1136C>G (p.Thr379Ser)
n.1695-6549G>C
13g.77901143G>TCA388452074EDNRB,EDNRB-AS1c.866C>A (p.Thr289Asn)
c.344C>A (p.Thr115Asn)
c.1136C>A (p.Thr379Asn)
n.1695-6549G>T
13g.77901144T>ACA388452075EDNRB,EDNRB-AS1c.865A>T (p.Thr289Ser)
c.343A>T (p.Thr115Ser)
c.1135A>T (p.Thr379Ser)
n.1695-6548T>A
13g.77901144T>CCA388452076EDNRB,EDNRB-AS1c.865A>G (p.Thr289Ala)
c.343A>G (p.Thr115Ala)
c.1135A>G (p.Thr379Ala)
n.1695-6548T>C
13g.77901144T>GCA388452077EDNRB,EDNRB-AS1c.865A>C (p.Thr289Pro)
c.343A>C (p.Thr115Pro)
c.1135A>C (p.Thr379Pro)
n.1695-6548T>G
13g.77901145G>ACA484395453EDNRB,EDNRB-AS1c.864C>T (p.Ile288=)
c.342C>T (p.Ile114=)
c.1134C>T (p.Ile378=)
n.1695-6547G>A
13g.77901145G>CCA388452078EDNRB,EDNRB-AS1c.864C>G (p.Ile288Met)
c.342C>G (p.Ile114Met)
c.1134C>G (p.Ile378Met)
n.1695-6547G>C
13g.77901145G=CA2103861073EDNRB,EDNRB-AS1c.864C= (p.Ile288=)
c.342C= (p.Ile114=)
c.1134C= (p.Ile378=)
n.1695-6547G=
13g.77901145G>TCA7012231EDNRB,EDNRB-AS1c.864C>A (p.Ile288=)
c.342C>A (p.Ile114=)
c.1134C>A (p.Ile378=)
n.1695-6547G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.77901146A>CCA388452079EDNRB,EDNRB-AS1c.863T>G (p.Ile288Ser)
c.341T>G (p.Ile114Ser)
c.1133T>G (p.Ile378Ser)
n.1695-6546A>C
13g.77901146A>GCA388452080EDNRB,EDNRB-AS1c.863T>C (p.Ile288Thr)
c.341T>C (p.Ile114Thr)
c.1133T>C (p.Ile378Thr)
n.1695-6546A>G
 COSMIC COSMIC COSMIC
13g.77901146A>TCA388452081EDNRB,EDNRB-AS1c.863T>A (p.Ile288Asn)
c.341T>A (p.Ile114Asn)
c.1133T>A (p.Ile378Asn)
n.1695-6546A>T
13g.77901147T>ACA388452083EDNRB,EDNRB-AS1c.862A>T (p.Ile288Phe)
c.340A>T (p.Ile114Phe)
c.1132A>T (p.Ile378Phe)
n.1695-6545T>A
13g.77901147T>CCA388452084EDNRB,EDNRB-AS1c.862A>G (p.Ile288Val)
c.340A>G (p.Ile114Val)
c.1132A>G (p.Ile378Val)
n.1695-6545T>C
 COSMIC COSMIC COSMIC
13g.77901147T>GCA388452082EDNRB,EDNRB-AS1c.862A>C (p.Ile288Leu)
c.340A>C (p.Ile114Leu)
c.1132A>C (p.Ile378Leu)
n.1695-6545T>G
13g.77901148G>ACA484395454EDNRB,EDNRB-AS1c.861C>T (p.Ala287=)
c.339C>T (p.Ala113=)
c.1131C>T (p.Ala377=)
n.1695-6544G>A
13g.77901148G>CCA484395455EDNRB,EDNRB-AS1c.861C>G (p.Ala287=)
c.339C>G (p.Ala113=)
c.1131C>G (p.Ala377=)
n.1695-6544G>C
13g.77901148G>TCA484395456EDNRB,EDNRB-AS1c.861C>A (p.Ala287=)
c.339C>A (p.Ala113=)
c.1131C>A (p.Ala377=)
n.1695-6544G>T
13g.77901149G>ACA388452086EDNRB,EDNRB-AS1c.860C>T (p.Ala287Val)
c.338C>T (p.Ala113Val)
c.1130C>T (p.Ala377Val)
n.1695-6543G>A
13g.77901149G>CCA388452085EDNRB,EDNRB-AS1c.860C>G (p.Ala287Gly)
c.338C>G (p.Ala113Gly)
c.1130C>G (p.Ala377Gly)
n.1695-6543G>C
13g.77901149G>TCA388452087EDNRB,EDNRB-AS1c.860C>A (p.Ala287Asp)
c.338C>A (p.Ala113Asp)
c.1130C>A (p.Ala377Asp)
n.1695-6543G>T
13g.77901150C>ACA388452088EDNRB,EDNRB-AS1c.859G>T (p.Ala287Ser)
c.337G>T (p.Ala113Ser)
c.1129G>T (p.Ala377Ser)
n.1695-6542C>A
13g.77901150C>GCA388452089EDNRB,EDNRB-AS1c.859G>C (p.Ala287Pro)
c.337G>C (p.Ala113Pro)
c.1129G>C (p.Ala377Pro)
n.1695-6542C>G
13g.77901150C>TCA388452090EDNRB,EDNRB-AS1c.859G>A (p.Ala287Thr)
c.337G>A (p.Ala113Thr)
c.1129G>A (p.Ala377Thr)
n.1695-6542C>T
13g.77901151C>ACA388452091EDNRB,EDNRB-AS1c.858G>T (p.Leu286Phe)
c.336G>T (p.Leu112Phe)
c.1128G>T (p.Leu376Phe)
n.1695-6541C>A
13g.77901151C>GCA388452092EDNRB,EDNRB-AS1c.858G>C (p.Leu286Phe)
c.336G>C (p.Leu112Phe)
c.1128G>C (p.Leu376Phe)
n.1695-6541C>G
13g.77901151C>TCA484395457EDNRB,EDNRB-AS1c.858G>A (p.Leu286=)
c.336G>A (p.Leu112=)
c.1128G>A (p.Leu376=)
n.1695-6541C>T
13g.77901152A>CCA388452093EDNRB,EDNRB-AS1c.857T>G (p.Leu286Trp)
c.335T>G (p.Leu112Trp)
c.1127T>G (p.Leu376Trp)
n.1695-6540A>C
13g.77901152A>GCA388452094EDNRB,EDNRB-AS1c.857T>C (p.Leu286Ser)
c.335T>C (p.Leu112Ser)
c.1127T>C (p.Leu376Ser)
n.1695-6540A>G
13g.77901152A>TCA388452095EDNRB,EDNRB-AS1c.857T>A (p.Leu286Ter)
c.335T>A (p.Leu112Ter)
c.1127T>A (p.Leu376Ter)
n.1695-6540A>T
13g.77901153A>CCA388452096EDNRB,EDNRB-AS1c.856T>G (p.Leu286Val)
c.334T>G (p.Leu112Val)
c.1126T>G (p.Leu376Val)
n.1695-6539A>C
13g.77901153A>GCA484395458EDNRB,EDNRB-AS1c.856T>C (p.Leu286=)
c.334T>C (p.Leu112=)
c.1126T>C (p.Leu376=)
n.1695-6539A>G
 gnomAD v4
13g.77901153A>TCA388452097EDNRB,EDNRB-AS1c.856T>A (p.Leu286Met)
c.334T>A (p.Leu112Met)
c.1126T>A (p.Leu376Met)
n.1695-6539A>T
13g.77901154T>ACA484395459EDNRB,EDNRB-AS1c.855A>T (p.Pro285=)
c.333A>T (p.Pro111=)
c.1125A>T (p.Pro375=)
n.1695-6538T>A
13g.77901154T>CCA484395460EDNRB,EDNRB-AS1c.855A>G (p.Pro285=)
c.333A>G (p.Pro111=)
c.1125A>G (p.Pro375=)
n.1695-6538T>C
 gnomAD v4
13g.77901154T>GCA484395461EDNRB,EDNRB-AS1c.855A>C (p.Pro285=)
c.333A>C (p.Pro111=)
c.1125A>C (p.Pro375=)
n.1695-6538T>G
 dbSNP gnomAD v4
13g.77901154T=CA2103861078EDNRB,EDNRB-AS1c.855A= (p.Pro285=)
c.333A= (p.Pro111=)
c.1125A= (p.Pro375=)
n.1695-6538T=
13g.77901155G>ACA388452100EDNRB,EDNRB-AS1c.854C>T (p.Pro285Leu)
c.332C>T (p.Pro111Leu)
c.1124C>T (p.Pro375Leu)
n.1695-6537G>A
 gnomAD v4
13g.77901155G>CCA388452099EDNRB,EDNRB-AS1c.854C>G (p.Pro285Arg)
c.332C>G (p.Pro111Arg)
c.1124C>G (p.Pro375Arg)
n.1695-6537G>C
13g.77901155G>TCA388452098EDNRB,EDNRB-AS1c.854C>A (p.Pro285Gln)
c.332C>A (p.Pro111Gln)
c.1124C>A (p.Pro375Gln)
n.1695-6537G>T
 gnomAD v4
13g.77901156G>ACA388452101EDNRB,EDNRB-AS1c.853C>T (p.Pro285Ser)
c.331C>T (p.Pro111Ser)
c.1123C>T (p.Pro375Ser)
n.1695-6536G>A
 ClinVar dbSNP
13g.77901156G>CCA388452102EDNRB,EDNRB-AS1c.853C>G (p.Pro285Ala)
c.331C>G (p.Pro111Ala)
c.1123C>G (p.Pro375Ala)
n.1695-6536G>C
13g.77901156G>TCA388452103EDNRB,EDNRB-AS1c.853C>A (p.Pro285Thr)
c.331C>A (p.Pro111Thr)
c.1123C>A (p.Pro375Thr)
n.1695-6536G>T
 gnomAD v4
13g.77901157C>ACA388452104EDNRB,EDNRB-AS1c.852G>T (p.Leu284Phe)
c.330G>T (p.Leu110Phe)
c.1122G>T (p.Leu374Phe)
n.1695-6535C>A
13g.77901157C>GCA388452105EDNRB,EDNRB-AS1c.852G>C (p.Leu284Phe)
c.330G>C (p.Leu110Phe)
c.1122G>C (p.Leu374Phe)
n.1695-6535C>G
13g.77901157C>TCA484395462EDNRB,EDNRB-AS1c.852G>A (p.Leu284=)
c.330G>A (p.Leu110=)
c.1122G>A (p.Leu374=)
n.1695-6535C>T
13g.77901158A>CCA388452106EDNRB,EDNRB-AS1c.851T>G (p.Leu284Trp)
c.329T>G (p.Leu110Trp)
c.1121T>G (p.Leu374Trp)
n.1695-6534A>C
13g.77901158A>GCA388452107EDNRB,EDNRB-AS1c.851T>C (p.Leu284Ser)
c.329T>C (p.Leu110Ser)
c.1121T>C (p.Leu374Ser)
n.1695-6534A>G
13g.77901158A>TCA388452108EDNRB,EDNRB-AS1c.851T>A (p.Leu284Ter)
c.329T>A (p.Leu110Ter)
c.1121T>A (p.Leu374Ter)
n.1695-6534A>T
13g.77901159A>CCA388452109EDNRB,EDNRB-AS1c.850T>G (p.Leu284Val)
c.328T>G (p.Leu110Val)
c.1120T>G (p.Leu374Val)
n.1695-6533A>C
13g.77901159A>GCA484395463EDNRB,EDNRB-AS1c.850T>C (p.Leu284=)
c.328T>C (p.Leu110=)
c.1120T>C (p.Leu374=)
n.1695-6533A>G
13g.77901159A>TCA388452110EDNRB,EDNRB-AS1c.850T>A (p.Leu284Met)
c.328T>A (p.Leu110Met)
c.1120T>A (p.Leu374Met)
n.1695-6533A>T
13g.77901160G>ACA484395464EDNRB,EDNRB-AS1c.849C>T (p.Cys283=)
c.327C>T (p.Cys109=)
c.1119C>T (p.Cys373=)
n.1695-6532G>A
 gnomAD v4
13g.77901160G>CCA388452111EDNRB,EDNRB-AS1c.849C>G (p.Cys283Trp)
c.327C>G (p.Cys109Trp)
c.1119C>G (p.Cys373Trp)
n.1695-6532G>C
13g.77901160G>TCA388452112EDNRB,EDNRB-AS1c.849C>A (p.Cys283Ter)
c.327C>A (p.Cys109Ter)
c.1119C>A (p.Cys373Ter)
n.1695-6532G>T
13g.77901161C>ACA388452114EDNRB,EDNRB-AS1c.848G>T (p.Cys283Phe)
c.326G>T (p.Cys109Phe)
c.1118G>T (p.Cys373Phe)
n.1695-6531C>A
 gnomAD v4
13g.77901161C>GCA388452115EDNRB,EDNRB-AS1c.848G>C (p.Cys283Ser)
c.326G>C (p.Cys109Ser)
c.1118G>C (p.Cys373Ser)
n.1695-6531C>G
13g.77901161C>TCA388452113EDNRB,EDNRB-AS1c.848G>A (p.Cys283Tyr)
c.326G>A (p.Cys109Tyr)
c.1118G>A (p.Cys373Tyr)
n.1695-6531C>T
13g.77901162A>CCA388452116EDNRB,EDNRB-AS1c.847T>G (p.Cys283Gly)
c.325T>G (p.Cys109Gly)
c.1117T>G (p.Cys373Gly)
n.1695-6530A>C
13g.77901162A>GCA388452117EDNRB,EDNRB-AS1c.847T>C (p.Cys283Arg)
c.325T>C (p.Cys109Arg)
c.1117T>C (p.Cys373Arg)
n.1695-6530A>G
13g.77901162A>TCA388452118EDNRB,EDNRB-AS1c.847T>A (p.Cys283Ser)
c.325T>A (p.Cys109Ser)
c.1117T>A (p.Cys373Ser)
n.1695-6530A>T
13g.77901163G>ACA484395465EDNRB,EDNRB-AS1c.846C>T (p.Phe282=)
c.324C>T (p.Phe108=)
c.1116C>T (p.Phe372=)
n.1695-6529G>A
 gnomAD v4
13g.77901163G>CCA388452119EDNRB,EDNRB-AS1c.846C>G (p.Phe282Leu)
c.324C>G (p.Phe108Leu)
c.1116C>G (p.Phe372Leu)
n.1695-6529G>C
13g.77901163G>TCA388452120EDNRB,EDNRB-AS1c.846C>A (p.Phe282Leu)
c.324C>A (p.Phe108Leu)
c.1116C>A (p.Phe372Leu)
n.1695-6529G>T
 COSMIC COSMIC COSMIC
13g.77901164A>CCA388452121EDNRB,EDNRB-AS1c.845T>G (p.Phe282Cys)
c.323T>G (p.Phe108Cys)
c.1115T>G (p.Phe372Cys)
n.1695-6528A>C
13g.77901164A>GCA388452122EDNRB,EDNRB-AS1c.845T>C (p.Phe282Ser)
c.323T>C (p.Phe108Ser)
c.1115T>C (p.Phe372Ser)
n.1695-6528A>G
13g.77901164A>TCA388452123EDNRB,EDNRB-AS1c.845T>A (p.Phe282Tyr)
c.323T>A (p.Phe108Tyr)
c.1115T>A (p.Phe372Tyr)
n.1695-6528A>T
 dbSNP
13g.77901165A>CCA388452124EDNRB,EDNRB-AS1c.844T>G (p.Phe282Val)
c.322T>G (p.Phe108Val)
c.1114T>G (p.Phe372Val)
n.1695-6527A>C
13g.77901165A>GCA388452125EDNRB,EDNRB-AS1c.844T>C (p.Phe282Leu)
c.322T>C (p.Phe108Leu)
c.1114T>C (p.Phe372Leu)
n.1695-6527A>G
 gnomAD v4
13g.77901165A>TCA388452126EDNRB,EDNRB-AS1c.844T>A (p.Phe282Ile)
c.322T>A (p.Phe108Ile)
c.1114T>A (p.Phe372Ile)
n.1695-6527A>T
13g.77901166A>CCA388452127EDNRB,EDNRB-AS1c.843T>G (p.Tyr281Ter)
c.321T>G (p.Tyr107Ter)
c.1113T>G (p.Tyr371Ter)
n.1695-6526A>C
13g.77901166A>GCA484395466EDNRB,EDNRB-AS1c.843T>C (p.Tyr281=)
c.321T>C (p.Tyr107=)
c.1113T>C (p.Tyr371=)
n.1695-6526A>G
13g.77901166A>TCA388452128EDNRB,EDNRB-AS1c.843T>A (p.Tyr281Ter)
c.321T>A (p.Tyr107Ter)
c.1113T>A (p.Tyr371Ter)
n.1695-6526A>T
13g.77901167T>ACA388452131EDNRB,EDNRB-AS1c.842A>T (p.Tyr281Phe)
c.320A>T (p.Tyr107Phe)
c.1112A>T (p.Tyr371Phe)
n.1695-6525T>A
13g.77901167T>CCA388452130EDNRB,EDNRB-AS1c.842A>G (p.Tyr281Cys)
c.320A>G (p.Tyr107Cys)
c.1112A>G (p.Tyr371Cys)
n.1695-6525T>C
 ClinVar dbSNP
13g.77901167T>GCA388452129EDNRB,EDNRB-AS1c.842A>C (p.Tyr281Ser)
c.320A>C (p.Tyr107Ser)
c.1112A>C (p.Tyr371Ser)
n.1695-6525T>G
13g.77901167T=CA2103861083EDNRB,EDNRB-AS1c.842A= (p.Tyr281=)
c.320A= (p.Tyr107=)
c.1112A= (p.Tyr371=)
n.1695-6525T=
13g.77901168A=CA2103861091EDNRB,EDNRB-AS1c.841T= (p.Tyr281=)
c.319T= (p.Tyr107=)
c.1111T= (p.Tyr371=)
n.1695-6524A=
13g.77901168A>CCA388452132EDNRB,EDNRB-AS1c.841T>G (p.Tyr281Asp)
c.319T>G (p.Tyr107Asp)
c.1111T>G (p.Tyr371Asp)
n.1695-6524A>C
13g.77901168A>GCA253048130EDNRB,EDNRB-AS1c.841T>C (p.Tyr281His)
c.319T>C (p.Tyr107His)
c.1111T>C (p.Tyr371His)
n.1695-6524A>G
 dbSNP
13g.77901168A>TCA388452133EDNRB,EDNRB-AS1c.841T>A (p.Tyr281Asn)
c.319T>A (p.Tyr107Asn)
c.1111T>A (p.Tyr371Asn)
n.1695-6524A>T
13g.77901169G>ACA484395467EDNRB,EDNRB-AS1c.840C>T (p.Phe280=)
c.318C>T (p.Phe106=)
c.1110C>T (p.Phe370=)
n.1695-6523G>A
13g.77901169G>CCA388452134EDNRB,EDNRB-AS1c.840C>G (p.Phe280Leu)
c.318C>G (p.Phe106Leu)
c.1110C>G (p.Phe370Leu)
n.1695-6523G>C
13g.77901169G>TCA388452135EDNRB,EDNRB-AS1c.840C>A (p.Phe280Leu)
c.318C>A (p.Phe106Leu)
c.1110C>A (p.Phe370Leu)
n.1695-6523G>T
 dbSNP
13g.77901170A>CCA388452136EDNRB,EDNRB-AS1c.839T>G (p.Phe280Cys)
c.317T>G (p.Phe106Cys)
c.1109T>G (p.Phe370Cys)
n.1695-6522A>C
13g.77901170A>GCA388452137EDNRB,EDNRB-AS1c.839T>C (p.Phe280Ser)
c.317T>C (p.Phe106Ser)
c.1109T>C (p.Phe370Ser)
n.1695-6522A>G
13g.77901170A>TCA388452138EDNRB,EDNRB-AS1c.839T>A (p.Phe280Tyr)
c.317T>A (p.Phe106Tyr)
c.1109T>A (p.Phe370Tyr)
n.1695-6522A>T
13g.77901171A>CCA388452139EDNRB,EDNRB-AS1c.838T>G (p.Phe280Val)
c.316T>G (p.Phe106Val)
c.1108T>G (p.Phe370Val)
n.1695-6521A>C
13g.77901171A>GCA388452140EDNRB,EDNRB-AS1c.838T>C (p.Phe280Leu)
c.316T>C (p.Phe106Leu)
c.1108T>C (p.Phe370Leu)
n.1695-6521A>G
13g.77901171A>TCA388452141EDNRB,EDNRB-AS1c.838T>A (p.Phe280Ile)
c.316T>A (p.Phe106Ile)
c.1108T>A (p.Phe370Ile)
n.1695-6521A>T
13g.77901172A>CCA388452142EDNRB,EDNRB-AS1c.837T>G (p.Ser279Arg)
c.315T>G (p.Ser105Arg)
c.1107T>G (p.Ser369Arg)
n.1695-6520A>C
13g.77901172A>GCA484395468EDNRB,EDNRB-AS1c.837T>C (p.Ser279=)
c.315T>C (p.Ser105=)
c.1107T>C (p.Ser369=)
n.1695-6520A>G
13g.77901172A>TCA388452143EDNRB,EDNRB-AS1c.837T>A (p.Ser279Arg)
c.315T>A (p.Ser105Arg)
c.1107T>A (p.Ser369Arg)
n.1695-6520A>T
13g.77901173C>ACA388452145EDNRB,EDNRB-AS1c.836G>T (p.Ser279Ile)
c.314G>T (p.Ser105Ile)
c.1106G>T (p.Ser369Ile)
n.1695-6519C>A
 dbSNP gnomAD v4
13g.77901173C=CA2103861100EDNRB,EDNRB-AS1c.836G= (p.Ser279=)
c.314G= (p.Ser105=)
c.1106G= (p.Ser369=)
n.1695-6519C=
13g.77901173C>GCA7012232EDNRB,EDNRB-AS1c.836G>C (p.Ser279Thr)
c.314G>C (p.Ser105Thr)
c.1106G>C (p.Ser369Thr)
n.1695-6519C>G
 dbSNP ExAC gnomAD v2
13g.77901173C>TCA388452144EDNRB,EDNRB-AS1c.836G>A (p.Ser279Asn)
c.314G>A (p.Ser105Asn)
c.1106G>A (p.Ser369Asn)
n.1695-6519C>T
 dbSNP gnomAD v2
13g.77901174T>ACA388452146EDNRB,EDNRB-AS1c.835A>T (p.Ser279Cys)
c.313A>T (p.Ser105Cys)
c.1105A>T (p.Ser369Cys)
n.1695-6518T>A
13g.77901174T>CCA388452147EDNRB,EDNRB-AS1c.835A>G (p.Ser279Gly)
c.313A>G (p.Ser105Gly)
c.1105A>G (p.Ser369Gly)
n.1695-6518T>C
 gnomAD v4
13g.77901174T>GCA388452148EDNRB,EDNRB-AS1c.835A>C (p.Ser279Arg)
c.313A>C (p.Ser105Arg)
c.1105A>C (p.Ser369Arg)
n.1695-6518T>G
13g.77901175G>ACA484395470EDNRB,EDNRB-AS1c.834C>T (p.Phe278=)
c.312C>T (p.Phe104=)
c.1104C>T (p.Phe368=)
n.1695-6517G>A
13g.77901175G>CCA388452149EDNRB,EDNRB-AS1c.834C>G (p.Phe278Leu)
c.312C>G (p.Phe104Leu)
c.1104C>G (p.Phe368Leu)
n.1695-6517G>C
13g.77901175G>TCA388452150EDNRB,EDNRB-AS1c.834C>A (p.Phe278Leu)
c.312C>A (p.Phe104Leu)
c.1104C>A (p.Phe368Leu)
n.1695-6517G>T
13g.77901176A=CA2103861113EDNRB,EDNRB-AS1c.833T= (p.Phe278=)
c.311T= (p.Phe104=)
c.1103T= (p.Phe368=)
n.1695-6516A=
13g.77901176A>CCA388452153EDNRB,EDNRB-AS1c.833T>G (p.Phe278Cys)
c.311T>G (p.Phe104Cys)
c.1103T>G (p.Phe368Cys)
n.1695-6516A>C
 dbSNP
13g.77901176A>GCA388452152EDNRB,EDNRB-AS1c.833T>C (p.Phe278Ser)
c.311T>C (p.Phe104Ser)
c.1103T>C (p.Phe368Ser)
n.1695-6516A>G
13g.77901176A>TCA388452151EDNRB,EDNRB-AS1c.833T>A (p.Phe278Tyr)
c.311T>A (p.Phe104Tyr)
c.1103T>A (p.Phe368Tyr)
n.1695-6516A>T
13g.77901177A=CA2103861123EDNRB,EDNRB-AS1c.832T= (p.Phe278=)
c.310T= (p.Phe104=)
c.1102T= (p.Phe368=)
n.1695-6515A=
13g.77901177A>CCA388452154EDNRB,EDNRB-AS1c.832T>G (p.Phe278Val)
c.310T>G (p.Phe104Val)
c.1102T>G (p.Phe368Val)
n.1695-6515A>C
 dbSNP
13g.77901177A>GCA253048131EDNRB,EDNRB-AS1c.832T>C (p.Phe278Leu)
c.310T>C (p.Phe104Leu)
c.1102T>C (p.Phe368Leu)
n.1695-6515A>G
 dbSNP
13g.77901177A>TCA388452155EDNRB,EDNRB-AS1c.832T>A (p.Phe278Ile)
c.310T>A (p.Phe104Ile)
c.1102T>A (p.Phe368Ile)
n.1695-6515A>T
 dbSNP
13g.77901178T>ACA484395471EDNRB,EDNRB-AS1c.831A>T (p.Leu277=)
c.309A>T (p.Leu103=)
c.1101A>T (p.Leu367=)
n.1695-6514T>A
13g.77901178T>CCA7012233EDNRB,EDNRB-AS1c.831A>G (p.Leu277=)
c.309A>G (p.Leu103=)
c.1101A>G (p.Leu367=)
n.1695-6514T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.77901178T>GCA253048132EDNRB,EDNRB-AS1c.831A>C (p.Leu277=)
c.309A>C (p.Leu103=)
c.1101A>C (p.Leu367=)
n.1695-6514T>G
 dbSNP gnomAD v4
13g.77901178T=CA2018007873EDNRB,EDNRB-AS1c.831A= (p.Leu277=)
c.309A= (p.Leu103=)
c.1101A= (p.Leu367=)
n.1695-6514T=
13g.77901178_77901179delinsCCCA501212EDNRB,EDNRB-AS1c.830_831delinsGG (p.Leu277Arg)
c.308_309delinsGG (p.Leu103Arg)
c.1100_1101delinsGG (p.Leu367Arg)
n.1695-6514_1695-6513delinsCC
13g.77901179A=CA2103861143EDNRB,EDNRB-AS1c.830T= (p.Leu277=)
c.308T= (p.Leu103=)
c.1100T= (p.Leu367=)
n.1695-6513A=
13g.77901179A>CCA388452156EDNRB,EDNRB-AS1c.830T>G (p.Leu277Arg)
c.308T>G (p.Leu103Arg)
c.1100T>G (p.Leu367Arg)
n.1695-6513A>C
 ClinVar dbSNP
13g.77901179A>GCA388452157EDNRB,EDNRB-AS1c.830T>C (p.Leu277Pro)
c.308T>C (p.Leu103Pro)
c.1100T>C (p.Leu367Pro)
n.1695-6513A>G
13g.77901179A>TCA388452158EDNRB,EDNRB-AS1c.830T>A (p.Leu277Gln)
c.308T>A (p.Leu103Gln)
c.1100T>A (p.Leu367Gln)
n.1695-6513A>T
13g.77901180G>ACA253048133EDNRB,EDNRB-AS1c.829C>T (p.Leu277=)
c.307C>T (p.Leu103=)
c.1099C>T (p.Leu367=)
n.1695-6512G>A
 dbSNP gnomAD v4
13g.77901180G>CCA388452160EDNRB,EDNRB-AS1c.829C>G (p.Leu277Val)
c.307C>G (p.Leu103Val)
c.1099C>G (p.Leu367Val)
n.1695-6512G>C
13g.77901180G=CA2103861153EDNRB,EDNRB-AS1c.829C= (p.Leu277=)
c.307C= (p.Leu103=)
c.1099C= (p.Leu367=)
n.1695-6512G=
13g.77901180G>TCA388452159EDNRB,EDNRB-AS1c.829C>A (p.Leu277Ile)
c.307C>A (p.Leu103Ile)
c.1099C>A (p.Leu367Ile)
n.1695-6512G>T
13g.77901181C>ACA126743EDNRB,EDNRB-AS1c.828G>T (p.Trp276Cys)
c.306G>T (p.Trp102Cys)
c.1098G>T (p.Trp366Cys)
n.1695-6511C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.77901181C=CA2103861160EDNRB,EDNRB-AS1c.828G= (p.Trp276=)
c.306G= (p.Trp102=)
c.1098G= (p.Trp366=)
n.1695-6511C=
13g.77901181C>GCA388452161EDNRB,EDNRB-AS1c.828G>C (p.Trp276Cys)
c.306G>C (p.Trp102Cys)
c.1098G>C (p.Trp366Cys)
n.1695-6511C>G
13g.77901181C>TCA388452162EDNRB,EDNRB-AS1c.828G>A (p.Trp276Ter)
c.306G>A (p.Trp102Ter)
c.1098G>A (p.Trp366Ter)
n.1695-6511C>T
 gnomAD v4

Number of alleles fetched