Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.12292413_12292433delinsGGCTCCGCCGGTCCAAGCGCTCA1610843871EDN1c.137_157delinsGGCTCCGCCGGTCCAAGCGCT (p.Arg46=)
c.134_154delinsGGCTCCGCCGGTCCAAGCGCT (p.Arg45=)
6g.12292419_12292438delCA3638636EDN1c.143_162del (p.Arg48LeufsTer7)
c.140_159del (p.Arg47LeufsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.12292424T>ACA362856304EDN1c.148T>A (p.Ser50Thr)
c.145T>A (p.Ser49Thr)
6g.12292424T>CCA362856305EDN1c.148T>C (p.Ser50Pro)
c.145T>C (p.Ser49Pro)
 dbSNP
6g.12292424T>GCA362856306EDN1c.148T>G (p.Ser50Ala)
c.145T>G (p.Ser49Ala)
6g.12292424T=CA1610843886EDN1c.148T= (p.Ser50=)
c.145T= (p.Ser49=)
6g.12292425C>ACA362856307EDN1c.149C>A (p.Ser50Tyr)
c.146C>A (p.Ser49Tyr)
6g.12292425C=CA1610843887EDN1c.149C= (p.Ser50=)
c.146C= (p.Ser49=)
6g.12292425C>GCA362856308EDN1c.149C>G (p.Ser50Cys)
c.146C>G (p.Ser49Cys)
6g.12292425C>TCA3638641EDN1c.149C>T (p.Ser50Phe)
c.146C>T (p.Ser49Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.12292426C>ACA448427692EDN1c.150C>A (p.Ser50=)
c.147C>A (p.Ser49=)
6g.12292426C>GCA448427693EDN1c.150C>G (p.Ser50=)
c.147C>G (p.Ser49=)
6g.12292426C>TCA448427694EDN1c.150C>T (p.Ser50=)
c.147C>T (p.Ser49=)
6g.12292427A>CCA362856311EDN1c.151A>C (p.Lys51Gln)
c.148A>C (p.Lys50Gln)
6g.12292427A>GCA362856309EDN1c.151A>G (p.Lys51Glu)
c.148A>G (p.Lys50Glu)
6g.12292427A>TCA362856310EDN1c.151A>T (p.Lys51Ter)
c.148A>T (p.Lys50Ter)
6g.12292428A>CCA362856312EDN1c.152A>C (p.Lys51Thr)
c.149A>C (p.Lys50Thr)
6g.12292428A>GCA362856313EDN1c.152A>G (p.Lys51Arg)
c.149A>G (p.Lys50Arg)
6g.12292428A>TCA362856314EDN1c.152A>T (p.Lys51Met)
c.149A>T (p.Lys50Met)
6g.12292429G>ACA448427695EDN1c.153G>A (p.Lys51=)
c.150G>A (p.Lys50=)
6g.12292429G>CCA362856315EDN1c.153G>C (p.Lys51Asn)
c.150G>C (p.Lys50Asn)
 gnomAD v4
6g.12292429G>TCA362856316EDN1c.153G>T (p.Lys51Asn)
c.150G>T (p.Lys50Asn)
6g.12292430C>ACA362856317EDN1c.154C>A (p.Arg52Ser)
c.151C>A (p.Arg51Ser)
 gnomAD v4
6g.12292430C>GCA362856319EDN1c.154C>G (p.Arg52Gly)
c.151C>G (p.Arg51Gly)
6g.12292430C>TCA362856318EDN1c.154C>T (p.Arg52Cys)
c.151C>T (p.Arg51Cys)
6g.12292431G>ACA362856320EDN1c.155G>A (p.Arg52His)
c.152G>A (p.Arg51His)
6g.12292431G>CCA362856321EDN1c.155G>C (p.Arg52Pro)
c.152G>C (p.Arg51Pro)
6g.12292431G>TCA362856322EDN1c.155G>T (p.Arg52Leu)
c.152G>T (p.Arg51Leu)
6g.12292432C>ACA448427697EDN1c.156C>A (p.Arg52=)
c.153C>A (p.Arg51=)
6g.12292432C>GCA448427698EDN1c.156C>G (p.Arg52=)
c.153C>G (p.Arg51=)
6g.12292432C>TCA448427696EDN1c.156C>T (p.Arg52=)
c.153C>T (p.Arg51=)
6g.12292433T>ACA362856323EDN1c.157T>A (p.Cys53Ser)
c.154T>A (p.Cys52Ser)
6g.12292433T>CCA362856324EDN1c.157T>C (p.Cys53Arg)
c.154T>C (p.Cys52Arg)
6g.12292433T>GCA362856325EDN1c.157T>G (p.Cys53Gly)
c.154T>G (p.Cys52Gly)
6g.12292434G>ACA362856326EDN1c.158G>A (p.Cys53Tyr)
c.155G>A (p.Cys52Tyr)
6g.12292434G>CCA362856327EDN1c.158G>C (p.Cys53Ser)
c.155G>C (p.Cys52Ser)
6g.12292434G>TCA362856328EDN1c.158G>T (p.Cys53Phe)
c.155G>T (p.Cys52Phe)
6g.12292435C>ACA362856329EDN1c.159C>A (p.Cys53Ter)
c.156C>A (p.Cys52Ter)
 dbSNP
6g.12292435C=CA1610843891EDN1c.159C= (p.Cys53=)
c.156C= (p.Cys52=)
6g.12292435C>GCA362856330EDN1c.159C>G (p.Cys53Trp)
c.156C>G (p.Cys52Trp)
6g.12292435C>TCA448427699EDN1c.159C>T (p.Cys53=)
c.156C>T (p.Cys52=)
6g.12292436T>ACA362856331EDN1c.160T>A (p.Ser54Thr)
c.157T>A (p.Ser53Thr)
6g.12292436T>CCA362856333EDN1c.160T>C (p.Ser54Pro)
c.157T>C (p.Ser53Pro)
 dbSNP gnomAD v2 gnomAD v4
6g.12292436T>GCA362856332EDN1c.160T>G (p.Ser54Ala)
c.157T>G (p.Ser53Ala)
6g.12292436T=CA1610843895EDN1c.160T= (p.Ser54=)
c.157T= (p.Ser53=)
6g.12292437C>ACA362856334EDN1c.161C>A (p.Ser54Tyr)
c.158C>A (p.Ser53Tyr)
6g.12292437C>GCA362856335EDN1c.161C>G (p.Ser54Cys)
c.158C>G (p.Ser53Cys)
6g.12292437C>TCA362856336EDN1c.161C>T (p.Ser54Phe)
c.158C>T (p.Ser53Phe)
6g.12292438C>ACA448427700EDN1c.162C>A (p.Ser54=)
c.159C>A (p.Ser53=)
6g.12292438C=CA1610843898EDN1c.162C= (p.Ser54=)
c.159C= (p.Ser53=)
6g.12292438C>GCA448427701EDN1c.162C>G (p.Ser54=)
c.159C>G (p.Ser53=)
6g.12292438C>TCA448427702EDN1c.162C>T (p.Ser54=)
c.159C>T (p.Ser53=)
 dbSNP gnomAD v2 gnomAD v4
6g.12292439T>ACA362856337EDN1c.163T>A (p.Cys55Ser)
c.160T>A (p.Cys54Ser)
6g.12292439T>CCA362856338EDN1c.163T>C (p.Cys55Arg)
c.160T>C (p.Cys54Arg)
6g.12292439T>GCA362856339EDN1c.163T>G (p.Cys55Gly)
c.160T>G (p.Cys54Gly)
6g.12292440G>ACA362856340EDN1c.164G>A (p.Cys55Tyr)
c.161G>A (p.Cys54Tyr)
6g.12292440G>CCA362856341EDN1c.164G>C (p.Cys55Ser)
c.161G>C (p.Cys54Ser)
6g.12292440G>TCA362856342EDN1c.164G>T (p.Cys55Phe)
c.161G>T (p.Cys54Phe)
6g.12292441C>ACA362856343EDN1c.165C>A (p.Cys55Ter)
c.162C>A (p.Cys54Ter)
6g.12292441C=CA1610843901EDN1c.165C= (p.Cys55=)
c.162C= (p.Cys54=)
6g.12292441C>GCA362856344EDN1c.165C>G (p.Cys55Trp)
c.162C>G (p.Cys54Trp)
6g.12292441C>TCA448427703EDN1c.165C>T (p.Cys55=)
c.162C>T (p.Cys54=)
 dbSNP
6g.12292442T>ACA362856347EDN1c.166T>A (p.Ser56Thr)
c.163T>A (p.Ser55Thr)
6g.12292442T>CCA362856346EDN1c.166T>C (p.Ser56Pro)
c.163T>C (p.Ser55Pro)
6g.12292442T>GCA362856345EDN1c.166T>G (p.Ser56Ala)
c.163T>G (p.Ser55Ala)
6g.12292443C>ACA362856348EDN1c.167C>A (p.Ser56Ter)
c.164C>A (p.Ser55Ter)
 dbSNP gnomAD v2
6g.12292443C=CA1610843905EDN1c.167C= (p.Ser56=)
c.164C= (p.Ser55=)
6g.12292443C>GCA134217362EDN1c.167C>G (p.Ser56Trp)
c.164C>G (p.Ser55Trp)
 dbSNP gnomAD v3 gnomAD v4
6g.12292443C>TCA362856349EDN1c.167C>T (p.Ser56Leu)
c.164C>T (p.Ser55Leu)
 gnomAD v4 COSMIC
6g.12292444G>ACA3638642EDN1c.168G>A (p.Ser56=)
c.165G>A (p.Ser55=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.12292444G>CCA448427704EDN1c.168G>C (p.Ser56=)
c.165G>C (p.Ser55=)
6g.12292444G=CA1610843907EDN1c.168G= (p.Ser56=)
c.165G= (p.Ser55=)
6g.12292444G>TCA448427705EDN1c.168G>T (p.Ser56=)
c.165G>T (p.Ser55=)
6g.12292445T>ACA362856350EDN1c.169T>A (p.Ser57Thr)
c.166T>A (p.Ser56Thr)
 gnomAD v4
6g.12292445T>CCA362856351EDN1c.169T>C (p.Ser57Pro)
c.166T>C (p.Ser56Pro)
6g.12292445T>GCA362856352EDN1c.169T>G (p.Ser57Ala)
c.166T>G (p.Ser56Ala)
6g.12292446C>ACA362856353EDN1c.170C>A (p.Ser57Tyr)
c.167C>A (p.Ser56Tyr)
6g.12292446C>GCA362856354EDN1c.170C>G (p.Ser57Cys)
c.167C>G (p.Ser56Cys)
6g.12292446C>TCA362856355EDN1c.170C>T (p.Ser57Phe)
c.167C>T (p.Ser56Phe)
 gnomAD v4
6g.12292447C>ACA448427706EDN1c.171C>A (p.Ser57=)
c.168C>A (p.Ser56=)
 gnomAD v4
6g.12292447C>GCA448427707EDN1c.171C>G (p.Ser57=)
c.168C>G (p.Ser56=)
6g.12292447C>TCA448427708EDN1c.171C>T (p.Ser57=)
c.168C>T (p.Ser56=)
 COSMIC
6g.12292448C>ACA3638643EDN1c.172C>A (p.Leu58Met)
c.169C>A (p.Leu57Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.12292448C=CA1610843910EDN1c.172C= (p.Leu58=)
c.169C= (p.Leu57=)
6g.12292448C>GCA362856356EDN1c.172C>G (p.Leu58Val)
c.169C>G (p.Leu57Val)
6g.12292448C>TCA448427709EDN1c.172C>T (p.Leu58=)
c.169C>T (p.Leu57=)
6g.12292449T>ACA362856359EDN1c.173T>A (p.Leu58Gln)
c.170T>A (p.Leu57Gln)
6g.12292449T>CCA362856358EDN1c.173T>C (p.Leu58Pro)
c.170T>C (p.Leu57Pro)
 gnomAD v4
6g.12292449T>GCA362856357EDN1c.173T>G (p.Leu58Arg)
c.170T>G (p.Leu57Arg)
6g.12292450G>ACA448427710EDN1c.174G>A (p.Leu58=)
c.171G>A (p.Leu57=)
6g.12292450G>CCA448427711EDN1c.174G>C (p.Leu58=)
c.171G>C (p.Leu57=)
6g.12292450G>TCA448427712EDN1c.174G>T (p.Leu58=)
c.171G>T (p.Leu57=)
6g.12292451A>CCA362856360EDN1c.175A>C (p.Met59Leu)
c.172A>C (p.Met58Leu)
6g.12292451A>GCA362856362EDN1c.175A>G (p.Met59Val)
c.172A>G (p.Met58Val)
 gnomAD v4
6g.12292451A>TCA362856361EDN1c.175A>T (p.Met59Leu)
c.172A>T (p.Met58Leu)
6g.12292452T>ACA362856363EDN1c.176T>A (p.Met59Lys)
c.173T>A (p.Met58Lys)
6g.12292452T>CCA362856365EDN1c.176T>C (p.Met59Thr)
c.173T>C (p.Met58Thr)
 gnomAD v4
6g.12292452T>GCA362856364EDN1c.176T>G (p.Met59Arg)
c.173T>G (p.Met58Arg)
6g.12292453G>ACA362856366EDN1c.177G>A (p.Met59Ile)
c.174G>A (p.Met58Ile)
 gnomAD v4
6g.12292453G>CCA362856368EDN1c.177G>C (p.Met59Ile)
c.174G>C (p.Met58Ile)
6g.12292453G>TCA362856367EDN1c.177G>T (p.Met59Ile)
c.174G>T (p.Met58Ile)
 gnomAD v4
6g.12292454G>ACA362856369EDN1c.178G>A (p.Asp60Asn)
c.175G>A (p.Asp59Asn)
6g.12292454G>CCA362856371EDN1c.178G>C (p.Asp60His)
c.175G>C (p.Asp59His)
6g.12292454G>TCA362856370EDN1c.178G>T (p.Asp60Tyr)
c.175G>T (p.Asp59Tyr)
6g.12292455A>CCA362856372EDN1c.179A>C (p.Asp60Ala)
c.176A>C (p.Asp59Ala)
6g.12292455A>GCA362856374EDN1c.179A>G (p.Asp60Gly)
c.176A>G (p.Asp59Gly)
6g.12292455A>TCA362856373EDN1c.179A>T (p.Asp60Val)
c.176A>T (p.Asp59Val)
6g.12292456T>ACA362856375EDN1c.180T>A (p.Asp60Glu)
c.177T>A (p.Asp59Glu)
6g.12292456T>CCA448427714EDN1c.180T>C (p.Asp60=)
c.177T>C (p.Asp59=)
 gnomAD v4
6g.12292456T>GCA362856376EDN1c.180T>G (p.Asp60Glu)
c.177T>G (p.Asp59Glu)
6g.12292457A>CCA362856377EDN1c.181A>C (p.Lys61Gln)
c.178A>C (p.Lys60Gln)
6g.12292457A>GCA362856379EDN1c.181A>G (p.Lys61Glu)
c.178A>G (p.Lys60Glu)
 gnomAD v4
6g.12292457A>TCA362856378EDN1c.181A>T (p.Lys61Ter)
c.178A>T (p.Lys60Ter)
6g.12292458_12292459dupCA2677349988EDN1c.182_183dup (p.Glu62LysfsTer?)
c.179_180dup (p.Glu61LysfsTer?)
 gnomAD v4
6g.12292458A>CCA362856380EDN1c.182A>C (p.Lys61Thr)
c.179A>C (p.Lys60Thr)
6g.12292458A>GCA362856382EDN1c.182A>G (p.Lys61Arg)
c.179A>G (p.Lys60Arg)
6g.12292458A>TCA362856381EDN1c.182A>T (p.Lys61Ile)
c.179A>T (p.Lys60Ile)
6g.12292459A>CCA362856383EDN1c.183A>C (p.Lys61Asn)
c.180A>C (p.Lys60Asn)
 gnomAD v4
6g.12292459A>GCA448427715EDN1c.183A>G (p.Lys61=)
c.180A>G (p.Lys60=)
6g.12292459A>TCA362856384EDN1c.183A>T (p.Lys61Asn)
c.180A>T (p.Lys60Asn)
6g.12292459_12292463delinsAGAGTCA1610843912EDN1c.183_187delinsAGAGT (p.Lys61=)
c.180_184delinsAGAGT (p.Lys60=)
6g.12292460G>ACA362856385EDN1c.184G>A (p.Glu62Lys)
c.181G>A (p.Glu61Lys)
6g.12292460G>CCA362856386EDN1c.184G>C (p.Glu62Gln)
c.181G>C (p.Glu61Gln)
 ClinVar dbSNP
6g.12292460G=CA1610843914EDN1c.184G= (p.Glu62=)
c.181G= (p.Glu61=)
6g.12292460G>TCA362856387EDN1c.184G>T (p.Glu62Ter)
c.181G>T (p.Glu61Ter)
6g.12292461_12292464delCA1610843913EDN1c.185_188del (p.Glu62ValfsTer?)
c.182_185del (p.Glu61ValfsTer?)
 dbSNP
6g.12292461A>CCA362856388EDN1c.185A>C (p.Glu62Ala)
c.182A>C (p.Glu61Ala)
6g.12292461A>GCA362856389EDN1c.185A>G (p.Glu62Gly)
c.182A>G (p.Glu61Gly)
6g.12292461A>TCA362856390EDN1c.185A>T (p.Glu62Val)
c.182A>T (p.Glu61Val)
 COSMIC
6g.12292462G>ACA134217366EDN1c.186G>A (p.Glu62=)
c.183G>A (p.Glu61=)
 dbSNP gnomAD v2 gnomAD v4
6g.12292462G>CCA362856391EDN1c.186G>C (p.Glu62Asp)
c.183G>C (p.Glu61Asp)
6g.12292462G=CA1610843916EDN1c.186G= (p.Glu62=)
c.183G= (p.Glu61=)
6g.12292462G>TCA362856392EDN1c.186G>T (p.Glu62Asp)
c.183G>T (p.Glu61Asp)
6g.12292463T>ACA362856395EDN1c.187T>A (p.Cys63Ser)
c.184T>A (p.Cys62Ser)
6g.12292463T>CCA362856394EDN1c.187T>C (p.Cys63Arg)
c.184T>C (p.Cys62Arg)
 dbSNP
6g.12292463T>GCA362856393EDN1c.187T>G (p.Cys63Gly)
c.184T>G (p.Cys62Gly)
6g.12292463T=CA1610843917EDN1c.187T= (p.Cys63=)
c.184T= (p.Cys62=)
6g.12292464G>ACA16618236EDN1c.188G>A (p.Cys63Tyr)
c.185G>A (p.Cys62Tyr)
 ClinVar dbSNP
6g.12292464G>CCA362856396EDN1c.188G>C (p.Cys63Ser)
c.185G>C (p.Cys62Ser)
6g.12292464G=CA1610843919EDN1c.188G= (p.Cys63=)
c.185G= (p.Cys62=)
6g.12292464G>TCA362856397EDN1c.188G>T (p.Cys63Phe)
c.185G>T (p.Cys62Phe)
6g.12292465T>ACA362856398EDN1c.189T>A (p.Cys63Ter)
c.186T>A (p.Cys62Ter)
6g.12292465T>CCA448427716EDN1c.189T>C (p.Cys63=)
c.186T>C (p.Cys62=)
6g.12292465T>GCA362856399EDN1c.189T>G (p.Cys63Trp)
c.186T>G (p.Cys62Trp)
6g.12292466G>ACA362856400EDN1c.190G>A (p.Val64Ile)
c.187G>A (p.Val63Ile)
 gnomAD v4
6g.12292466G>CCA362856401EDN1c.190G>C (p.Val64Leu)
c.187G>C (p.Val63Leu)
6g.12292466G>TCA362856402EDN1c.190G>T (p.Val64Phe)
c.187G>T (p.Val63Phe)
6g.12292467T>ACA150781EDN1c.191T>A (p.Val64Asp)
c.188T>A (p.Val63Asp)
 ClinVar dbSNP
6g.12292467T>CCA362856403EDN1c.191T>C (p.Val64Ala)
c.188T>C (p.Val63Ala)
6g.12292467T>GCA362856404EDN1c.191T>G (p.Val64Gly)
c.188T>G (p.Val63Gly)
6g.12292467T=CA1610843921EDN1c.191T= (p.Val64=)
c.188T= (p.Val63=)
6g.12292468C>ACA448427717EDN1c.192C>A (p.Val64=)
c.189C>A (p.Val63=)
6g.12292468C>GCA448427718EDN1c.192C>G (p.Val64=)
c.189C>G (p.Val63=)
6g.12292468C>TCA448427719EDN1c.192C>T (p.Val64=)
c.189C>T (p.Val63=)
6g.12292469T>ACA362856407EDN1c.193T>A (p.Tyr65Asn)
c.190T>A (p.Tyr64Asn)
6g.12292469T>CCA362856406EDN1c.193T>C (p.Tyr65His)
c.190T>C (p.Tyr64His)
6g.12292469T>GCA362856405EDN1c.193T>G (p.Tyr65Asp)
c.190T>G (p.Tyr64Asp)
6g.12292470A>CCA362856408EDN1c.194A>C (p.Tyr65Ser)
c.191A>C (p.Tyr64Ser)
6g.12292470A>GCA362856409EDN1c.194A>G (p.Tyr65Cys)
c.191A>G (p.Tyr64Cys)
 gnomAD v4 COSMIC
6g.12292470A>TCA362856410EDN1c.194A>T (p.Tyr65Phe)
c.191A>T (p.Tyr64Phe)
6g.12292471C>ACA362856411EDN1c.195C>A (p.Tyr65Ter)
c.192C>A (p.Tyr64Ter)
6g.12292471C=CA1610843925EDN1c.195C= (p.Tyr65=)
c.192C= (p.Tyr64=)
6g.12292471C>GCA362856412EDN1c.195C>G (p.Tyr65Ter)
c.192C>G (p.Tyr64Ter)
6g.12292471C>TCA3638644EDN1c.195C>T (p.Tyr65=)
c.192C>T (p.Tyr64=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.12292472T>ACA362856413EDN1c.196T>A (p.Phe66Ile)
c.193T>A (p.Phe65Ile)
6g.12292472T>CCA362856414EDN1c.196T>C (p.Phe66Leu)
c.193T>C (p.Phe65Leu)
6g.12292472T>GCA362856415EDN1c.196T>G (p.Phe66Val)
c.193T>G (p.Phe65Val)
6g.12292473T>ACA362856416EDN1c.197T>A (p.Phe66Tyr)
c.194T>A (p.Phe65Tyr)
6g.12292473T>CCA362856417EDN1c.197T>C (p.Phe66Ser)
c.194T>C (p.Phe65Ser)
6g.12292473T>GCA362856418EDN1c.197T>G (p.Phe66Cys)
c.194T>G (p.Phe65Cys)
6g.12292474C>ACA362856420EDN1c.198C>A (p.Phe66Leu)
c.195C>A (p.Phe65Leu)
6g.12292474C>GCA362856419EDN1c.198C>G (p.Phe66Leu)
c.195C>G (p.Phe65Leu)
6g.12292474C>TCA448427721EDN1c.198C>T (p.Phe66=)
c.195C>T (p.Phe65=)
 COSMIC
6g.12292475T>ACA362856421EDN1c.199T>A (p.Cys67Ser)
c.196T>A (p.Cys66Ser)
6g.12292475T>CCA362856422EDN1c.199T>C (p.Cys67Arg)
c.196T>C (p.Cys66Arg)
6g.12292475T>GCA362856423EDN1c.199T>G (p.Cys67Gly)
c.196T>G (p.Cys66Gly)
 gnomAD v4
6g.12292476G>ACA362856424EDN1c.200G>A (p.Cys67Tyr)
c.197G>A (p.Cys66Tyr)
6g.12292476G>CCA362856425EDN1c.200G>C (p.Cys67Ser)
c.197G>C (p.Cys66Ser)
6g.12292476G>TCA362856426EDN1c.200G>T (p.Cys67Phe)
c.197G>T (p.Cys66Phe)
6g.12292477C>ACA362856427EDN1c.201C>A (p.Cys67Ter)
c.198C>A (p.Cys66Ter)
6g.12292477C=CA1610843928EDN1c.201C= (p.Cys67=)
c.198C= (p.Cys66=)
6g.12292477C>GCA362856428EDN1c.201C>G (p.Cys67Trp)
c.198C>G (p.Cys66Trp)
6g.12292477C>TCA3638645EDN1c.201C>T (p.Cys67=)
c.198C>T (p.Cys66=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.12292478C>ACA362856429EDN1c.202C>A (p.His68Asn)
c.199C>A (p.His67Asn)
6g.12292478C>GCA362856430EDN1c.202C>G (p.His68Asp)
c.199C>G (p.His67Asp)
6g.12292478C>TCA362856431EDN1c.202C>T (p.His68Tyr)
c.199C>T (p.His67Tyr)
6g.12292479A>CCA362856433EDN1c.203A>C (p.His68Pro)
c.200A>C (p.His67Pro)
6g.12292479A>GCA362856434EDN1c.203A>G (p.His68Arg)
c.200A>G (p.His67Arg)
6g.12292479A>TCA362856432EDN1c.203A>T (p.His68Leu)
c.200A>T (p.His67Leu)
6g.12292480C>ACA362856436EDN1c.204C>A (p.His68Gln)
c.201C>A (p.His67Gln)
6g.12292480C=CA1610843936EDN1c.204C= (p.His68=)
c.201C= (p.His67=)
6g.12292480C>GCA362856435EDN1c.204C>G (p.His68Gln)
c.201C>G (p.His67Gln)
6g.12292480C>TCA448427722EDN1c.204C>T (p.His68=)
c.201C>T (p.His67=)
 dbSNP
6g.12292481C>ACA362856437EDN1c.205C>A (p.Leu69Met)
c.202C>A (p.Leu68Met)
6g.12292481C=CA1610843938EDN1c.205C= (p.Leu69=)
c.202C= (p.Leu68=)
6g.12292481C>GCA362856438EDN1c.205C>G (p.Leu69Val)
c.202C>G (p.Leu68Val)
6g.12292481C>TCA3638646EDN1c.205C>T (p.Leu69=)
c.202C>T (p.Leu68=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.12292482T>ACA362856439EDN1c.206T>A (p.Leu69Gln)
c.203T>A (p.Leu68Gln)
6g.12292482T>CCA362856440EDN1c.206T>C (p.Leu69Pro)
c.203T>C (p.Leu68Pro)
6g.12292482T>GCA362856441EDN1c.206T>G (p.Leu69Arg)
c.203T>G (p.Leu68Arg)
6g.12292483G>ACA448427725EDN1c.207G>A (p.Leu69=)
c.204G>A (p.Leu68=)
6g.12292483G>CCA448427726EDN1c.207G>C (p.Leu69=)
c.204G>C (p.Leu68=)
6g.12292483G>TCA448427727EDN1c.207G>T (p.Leu69=)
c.204G>T (p.Leu68=)
6g.12292484G>ACA362856442EDN1c.208G>A (p.Asp70Asn)
c.205G>A (p.Asp69Asn)
6g.12292484G>CCA362856443EDN1c.208G>C (p.Asp70His)
c.205G>C (p.Asp69His)
6g.12292484G>TCA362856444EDN1c.208G>T (p.Asp70Tyr)
c.205G>T (p.Asp69Tyr)
6g.12292485A>CCA362856445EDN1c.209A>C (p.Asp70Ala)
c.206A>C (p.Asp69Ala)
6g.12292485A>GCA362856446EDN1c.209A>G (p.Asp70Gly)
c.206A>G (p.Asp69Gly)
6g.12292485A>TCA362856447EDN1c.209A>T (p.Asp70Val)
c.206A>T (p.Asp69Val)
6g.12292486C>ACA362856449EDN1c.210C>A (p.Asp70Glu)
c.207C>A (p.Asp69Glu)
6g.12292486C>GCA362856448EDN1c.210C>G (p.Asp70Glu)
c.207C>G (p.Asp69Glu)
6g.12292486C>TCA448427728EDN1c.210C>T (p.Asp70=)
c.207C>T (p.Asp69=)
 gnomAD v4
6g.12292487A=CA1610843942EDN1c.211A= (p.Ile71=)
c.208A= (p.Ile70=)
6g.12292487A>CCA362856450EDN1c.211A>C (p.Ile71Leu)
c.208A>C (p.Ile70Leu)
6g.12292487A>GCA3638647EDN1c.211A>G (p.Ile71Val)
c.208A>G (p.Ile70Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.12292487A>TCA362856451EDN1c.211A>T (p.Ile71Phe)
c.208A>T (p.Ile70Phe)
6g.12292488T>ACA362856452EDN1c.212T>A (p.Ile71Asn)
c.209T>A (p.Ile70Asn)
6g.12292488T>CCA362856453EDN1c.212T>C (p.Ile71Thr)
c.209T>C (p.Ile70Thr)
6g.12292488T>GCA362856454EDN1c.212T>G (p.Ile71Ser)
c.209T>G (p.Ile70Ser)
6g.12292489C>ACA448427729EDN1c.213C>A (p.Ile71=)
c.210C>A (p.Ile70=)
 dbSNP
6g.12292489C=CA1610843944EDN1c.213C= (p.Ile71=)
c.210C= (p.Ile70=)
6g.12292489C>GCA362856455EDN1c.213C>G (p.Ile71Met)
c.210C>G (p.Ile70Met)
6g.12292489C>TCA448427730EDN1c.213C>T (p.Ile71=)
c.210C>T (p.Ile70=)
6g.12292490A>CCA362856456EDN1c.214A>C (p.Ile72Leu)
c.211A>C (p.Ile71Leu)
6g.12292490A>GCA362856457EDN1c.214A>G (p.Ile72Val)
c.211A>G (p.Ile71Val)
6g.12292490A>TCA362856458EDN1c.214A>T (p.Ile72Phe)
c.211A>T (p.Ile71Phe)
6g.12292491T>ACA362856459EDN1c.215T>A (p.Ile72Asn)
c.212T>A (p.Ile71Asn)
6g.12292491T>CCA362856460EDN1c.215T>C (p.Ile72Thr)
c.212T>C (p.Ile71Thr)
6g.12292491T>GCA362856461EDN1c.215T>G (p.Ile72Ser)
c.212T>G (p.Ile71Ser)
6g.12292492T>ACA448427731EDN1c.216T>A (p.Ile72=)
c.213T>A (p.Ile71=)
6g.12292492T>CCA448427732EDN1c.216T>C (p.Ile72=)
c.213T>C (p.Ile71=)
6g.12292492T>GCA362856462EDN1c.216T>G (p.Ile72Met)
c.213T>G (p.Ile71Met)
 gnomAD v4
6g.12292493T>ACA362856465EDN1c.217T>A (p.Trp73Arg)
c.214T>A (p.Trp72Arg)
6g.12292493T>CCA362856463EDN1c.217T>C (p.Trp73Arg)
c.214T>C (p.Trp72Arg)
6g.12292493T>GCA362856464EDN1c.217T>G (p.Trp73Gly)
c.214T>G (p.Trp72Gly)
6g.12292494G>ACA362856466EDN1c.218G>A (p.Trp73Ter)
c.215G>A (p.Trp72Ter)
6g.12292494G>CCA362856467EDN1c.218G>C (p.Trp73Ser)
c.215G>C (p.Trp72Ser)
6g.12292494G>TCA362856468EDN1c.218G>T (p.Trp73Leu)
c.215G>T (p.Trp72Leu)
6g.12292495G>ACA362856471EDN1c.219G>A (p.Trp73Ter)
c.216G>A (p.Trp72Ter)
6g.12292495G>CCA362856470EDN1c.219G>C (p.Trp73Cys)
c.216G>C (p.Trp72Cys)
6g.12292495G>TCA362856469EDN1c.219G>T (p.Trp73Cys)
c.216G>T (p.Trp72Cys)
6g.12292496G>ACA362856472EDN1c.220G>A (p.Val74Ile)
c.217G>A (p.Val73Ile)
6g.12292496G>CCA362856473EDN1c.220G>C (p.Val74Leu)
c.217G>C (p.Val73Leu)
6g.12292496G>TCA362856474EDN1c.220G>T (p.Val74Phe)
c.217G>T (p.Val73Phe)
6g.12292497T>ACA362856475EDN1c.221T>A (p.Val74Asp)
c.218T>A (p.Val73Asp)
6g.12292497T>CCA362856476EDN1c.221T>C (p.Val74Ala)
c.218T>C (p.Val73Ala)
6g.12292497T>GCA362856477EDN1c.221T>G (p.Val74Gly)
c.218T>G (p.Val73Gly)
6g.12292498C>ACA448427734EDN1c.222C>A (p.Val74=)
c.219C>A (p.Val73=)
6g.12292498C>GCA448427735EDN1c.222C>G (p.Val74=)
c.219C>G (p.Val73=)
6g.12292498C>TCA448427736EDN1c.222C>T (p.Val74=)
c.219C>T (p.Val73=)
 gnomAD v4
6g.12292499A=CA1610843949EDN1c.223A= (p.Asn75=)
c.220A= (p.Asn74=)
6g.12292499A>CCA362856478EDN1c.223A>C (p.Asn75His)
c.220A>C (p.Asn74His)
6g.12292499A>GCA362856479EDN1c.223A>G (p.Asn75Asp)
c.220A>G (p.Asn74Asp)
6g.12292499A>TCA134217373EDN1c.223A>T (p.Asn75Tyr)
c.220A>T (p.Asn74Tyr)
 dbSNP gnomAD v3 gnomAD v4
6g.12292500A=CA1610843951EDN1c.224A= (p.Asn75=)
c.221A= (p.Asn74=)
6g.12292500A>CCA362856480EDN1c.224A>C (p.Asn75Thr)
c.221A>C (p.Asn74Thr)
 gnomAD v4
6g.12292500A>GCA3638648EDN1c.224A>G (p.Asn75Ser)
c.221A>G (p.Asn74Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.12292500A>TCA362856481EDN1c.224A>T (p.Asn75Ile)
c.221A>T (p.Asn74Ile)
6g.12292501C>ACA362856482EDN1c.225C>A (p.Asn75Lys)
c.222C>A (p.Asn74Lys)
6g.12292501C=CA1610843954EDN1c.225C= (p.Asn75=)
c.222C= (p.Asn74=)
6g.12292501C>GCA3638649EDN1c.225C>G (p.Asn75Lys)
c.222C>G (p.Asn74Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.12292501C>TCA448427737EDN1c.225C>T (p.Asn75=)
c.222C>T (p.Asn74=)
6g.12292502A>CCA362856483EDN1c.226A>C (p.Thr76Pro)
c.223A>C (p.Thr75Pro)
6g.12292502A>GCA362856484EDN1c.226A>G (p.Thr76Ala)
c.223A>G (p.Thr75Ala)
6g.12292502A>TCA362856485EDN1c.226A>T (p.Thr76Ser)
c.223A>T (p.Thr75Ser)
6g.12292503C>ACA3638650EDN1c.227C>A (p.Thr76Asn)
c.224C>A (p.Thr75Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.12292503C=CA1610843958EDN1c.227C= (p.Thr76=)
c.224C= (p.Thr75=)
6g.12292503C>GCA362856486EDN1c.227C>G (p.Thr76Ser)
c.224C>G (p.Thr75Ser)
6g.12292503C>TCA362856487EDN1c.227C>T (p.Thr76Ile)
c.224C>T (p.Thr75Ile)
6g.12292504T>ACA448427738EDN1c.228T>A (p.Thr76=)
c.225T>A (p.Thr75=)
6g.12292504T>CCA448427739EDN1c.228T>C (p.Thr76=)
c.225T>C (p.Thr75=)
6g.12292504T>GCA448427740EDN1c.228T>G (p.Thr76=)
c.225T>G (p.Thr75=)
6g.12292505C>ACA362856490EDN1c.229C>A (p.Pro77Thr)
c.226C>A (p.Pro76Thr)
6g.12292505C>GCA362856489EDN1c.229C>G (p.Pro77Ala)
c.226C>G (p.Pro76Ala)
6g.12292505C>TCA362856488EDN1c.229C>T (p.Pro77Ser)
c.226C>T (p.Pro76Ser)
6g.12292506C>ACA150780EDN1c.230C>A (p.Pro77His)
c.227C>A (p.Pro76His)
 ClinVar dbSNP
6g.12292506C=CA1610843964EDN1c.230C= (p.Pro77=)
c.227C= (p.Pro76=)
6g.12292506C>GCA362856492EDN1c.230C>G (p.Pro77Arg)
c.227C>G (p.Pro76Arg)
6g.12292506C>TCA362856491EDN1c.230C>T (p.Pro77Leu)
c.227C>T (p.Pro76Leu)
6g.12292507C>ACA448427743EDN1c.231C>A (p.Pro77=)
c.228C>A (p.Pro76=)
 COSMIC
6g.12292507C=CA1610843972EDN1c.231C= (p.Pro77=)
c.228C= (p.Pro76=)
6g.12292507C>GCA448427742EDN1c.231C>G (p.Pro77=)
c.228C>G (p.Pro76=)
6g.12292507C>TCA3638651EDN1c.231C>T (p.Pro77=)
c.228C>T (p.Pro76=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.12292508delCA2770023741EDN1c.232del (p.Glu78SerfsTer?)
c.229del (p.Glu77SerfsTer?)
6g.12292508G>ACA362856495EDN1c.232G>A (p.Glu78Lys)
c.229G>A (p.Glu77Lys)
 gnomAD v4
6g.12292508G>CCA362856493EDN1c.232G>C (p.Glu78Gln)
c.229G>C (p.Glu77Gln)
 dbSNP gnomAD v2
6g.12292508G=CA1610843974EDN1c.232G= (p.Glu78=)
c.229G= (p.Glu77=)
6g.12292508G>TCA362856494EDN1c.232G>T (p.Glu78Ter)
c.229G>T (p.Glu77Ter)
6g.12292508_12292511delCA2677349989EDN1c.232_233+2del
c.229_230+2del
 gnomAD v4
6g.12292509A=CA1610843975EDN1c.233A= (p.Glu78=)
c.230A= (p.Glu77=)
6g.12292509A>CCA362856496EDN1c.233A>C (p.Glu78Ala)
c.230A>C (p.Glu77Ala)
6g.12292509A>GCA3638652EDN1c.233A>G (p.Glu78Gly)
c.230A>G (p.Glu77Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.12292509A>TCA362856497EDN1c.233A>T (p.Glu78Val)
c.230A>T (p.Glu77Val)
6g.12292510G>ACA362856498EDN1c.233+1G>A (n.233+1G>A)
c.230+1G>A (n.230+1G>A)
6g.12292510G>CCA362856499EDN1c.233+1G>C (n.233+1G>C)
c.230+1G>C (n.230+1G>C)
6g.12292510G>TCA362856500EDN1c.233+1G>T (n.233+1G>T)
c.230+1G>T (n.230+1G>T)
6g.12292511T>ACA362856501EDN1c.233+2T>A (n.233+2T>A)
c.230+2T>A (n.230+2T>A)
6g.12292511T>CCA362856502EDN1c.233+2T>C (n.233+2T>C)
c.230+2T>C (n.230+2T>C)
6g.12292511T>GCA362856503EDN1c.233+2T>G (n.233+2T>G)
c.230+2T>G (n.230+2T>G)
6g.12292514G>ACA565829451EDN1c.233+5G>A (n.233+5G>A)
c.230+5G>A (n.230+5G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.12292514G=CA1610843976EDN1c.233+5G= (n.233+5G=)
c.230+5G= (n.230+5G=)
6g.12292518C=CA1610843978EDN1c.233+9C= (n.233+9C=)
c.230+9C= (n.230+9C=)
6g.12292518C>GCA3638653EDN1c.233+9C>G (n.233+9C>G)
c.230+9C>G (n.230+9C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.12292519T>CCA1610843979EDN1c.233+10T>C (n.233+10T>C)
c.230+10T>C (n.230+10T>C)
 dbSNP gnomAD v4
6g.12292519T=CA1610843980EDN1c.233+10T= (n.233+10T=)
c.230+10T= (n.230+10T=)
6g.12292520A=CA1610843981EDN1c.233+11A= (n.233+11A=)
c.230+11A= (n.230+11A=)
6g.12292520A>GCA1610843982EDN1c.233+11A>G (n.233+11A>G)
c.230+11A>G (n.230+11A>G)
 dbSNP
6g.12292521G>CCA3638654EDN1c.233+12G>C (n.233+12G>C)
c.230+12G>C (n.230+12G>C)
 dbSNP ExAC gnomAD v2
6g.12292521G=CA1610843983EDN1c.233+12G= (n.233+12G=)
c.230+12G= (n.230+12G=)
6g.12292522A>GCA2677349990EDN1c.233+13A>G (n.233+13A>G)
c.230+13A>G (n.230+13A>G)
 gnomAD v4
6g.12292523G>ACA818253249EDN1c.233+14G>A (n.233+14G>A)
c.230+14G>A (n.230+14G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.12292523G>CCA565829452EDN1c.233+14G>C (n.233+14G>C)
c.230+14G>C (n.230+14G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.12292523G=CA1610843986EDN1c.233+14G= (n.233+14G=)
c.230+14G= (n.230+14G=)
6g.12292524G>ACA1610843988EDN1c.233+15G>A (n.233+15G>A)
c.230+15G>A (n.230+15G>A)
 dbSNP
6g.12292524G=CA1610843987EDN1c.233+15G= (n.233+15G=)
c.230+15G= (n.230+15G=)
6g.12292524G>TCA2677349991EDN1c.233+15G>T (n.233+15G>T)
c.230+15G>T (n.230+15G>T)
 gnomAD v4

Number of alleles fetched