Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.12296022G>ACA448427968EDN1c.594G>A (p.Lys198=)
c.591G>A (p.Lys197=)
6g.12296022G>CCA362857349EDN1c.594G>C (p.Lys198Asn)
c.591G>C (p.Lys197Asn)
6g.12296022G=CA1610830931EDN1c.594G= (p.Lys198=)
c.591G= (p.Lys197=)
6g.12296022G>TCA126756EDN1c.594G>T (p.Lys198Asn)
c.591G>T (p.Lys197Asn)
ClinVar dbSNP ExAC gnomAD
6g.12296023C>ACA362857350EDN1c.595C>A (p.Pro199Thr)
c.592C>A (p.Pro198Thr)
6g.12296023C=CA1610830938EDN1c.595C= (p.Pro199=)
c.592C= (p.Pro198=)
6g.12296023C>GCA362857351EDN1c.595C>G (p.Pro199Ala)
c.592C>G (p.Pro198Ala)
6g.12296023C>TCA3638771EDN1c.595C>T (p.Pro199Ser)
c.592C>T (p.Pro198Ser)
dbSNP ExAC gnomAD
6g.12296024C>ACA362857352EDN1c.596C>A (p.Pro199His)
c.593C>A (p.Pro198His)
6g.12296024C=CA1610830942EDN1c.596C= (p.Pro199=)
c.593C= (p.Pro198=)
6g.12296024C>GCA362857353EDN1c.596C>G (p.Pro199Arg)
c.593C>G (p.Pro198Arg)
6g.12296024C>TCA3638772EDN1c.596C>T (p.Pro199Leu)
c.593C>T (p.Pro198Leu)
dbSNP ExAC gnomAD COSMIC
6g.12296025C>ACA448427969EDN1c.597C>A (p.Pro199=)
c.594C>A (p.Pro198=)
6g.12296025C=CA1610830946EDN1c.597C= (p.Pro199=)
c.594C= (p.Pro198=)
6g.12296025C>GCA448427970EDN1c.597C>G (p.Pro199=)
c.594C>G (p.Pro198=)
6g.12296025C>TCA3638773EDN1c.597C>T (p.Pro199=)
c.594C>T (p.Pro198=)
dbSNP ExAC gnomAD
6g.12296026T>ACA362857354EDN1c.598T>A (p.Ser200Thr)
c.595T>A (p.Ser199Thr)
6g.12296026T>CCA362857355EDN1c.598T>C (p.Ser200Pro)
c.595T>C (p.Ser199Pro)
6g.12296026T>GCA362857356EDN1c.598T>G (p.Ser200Ala)
c.595T>G (p.Ser199Ala)
6g.12296026T=CA1610830948EDN1c.598T= (p.Ser200=)
c.595T= (p.Ser199=)
6g.12296027C>ACA362857359EDN1c.599C>A (p.Ser200Tyr)
c.596C>A (p.Ser199Tyr)
6g.12296027C>GCA362857358EDN1c.599C>G (p.Ser200Cys)
c.596C>G (p.Ser199Cys)
6g.12296027C>TCA362857357EDN1c.599C>T (p.Ser200Phe)
c.596C>T (p.Ser199Phe)
6g.12296028C>ACA448427971EDN1c.600C>A (p.Ser200=)
c.597C>A (p.Ser199=)
6g.12296028C=CA1610830951EDN1c.600C= (p.Ser200=)
c.597C= (p.Ser199=)
6g.12296028C>GCA448427973EDN1c.600C>G (p.Ser200=)
c.597C>G (p.Ser199=)
6g.12296028C>TCA448427972EDN1c.600C>T (p.Ser200=)
c.597C>T (p.Ser199=)
6g.12296029A=CA1610830957EDN1c.601A= (p.Arg201=)
c.598A= (p.Arg200=)
6g.12296029A>CCA448427974EDN1c.601A>C (p.Arg201=)
c.598A>C (p.Arg200=)
6g.12296029A>GCA3638774EDN1c.601A>G (p.Arg201Gly)
c.598A>G (p.Arg200Gly)
dbSNP ExAC gnomAD
6g.12296029A>TCA362857360EDN1c.601A>T (p.Arg201Ter)
c.598A>T (p.Arg200Ter)
6g.12296029dupCA565609779EDN1c.601dup (p.Arg201LysfsTer?)
c.598dup (p.Arg200LysfsTer?)
dbSNP gnomAD
6g.12296030G>ACA362857361EDN1c.602G>A (p.Arg201Lys)
c.599G>A (p.Arg200Lys)
6g.12296030G>CCA362857362EDN1c.602G>C (p.Arg201Thr)
c.599G>C (p.Arg200Thr)
6g.12296030G=CA1610830962EDN1c.602G= (p.Arg201=)
c.599G= (p.Arg200=)
6g.12296030G>TCA362857363EDN1c.602G>T (p.Arg201Ile)
c.599G>T (p.Arg200Ile)
6g.12296031A>CCA362857364EDN1c.603A>C (p.Arg201Ser)
c.600A>C (p.Arg200Ser)
6g.12296031A>GCA448427975EDN1c.603A>G (p.Arg201=)
c.600A>G (p.Arg200=)
6g.12296031A>TCA362857365EDN1c.603A>T (p.Arg201Ser)
c.600A>T (p.Arg200Ser)
6g.12296032G>ACA134218082EDN1c.604G>A (p.Glu202Lys)
c.601G>A (p.Glu201Lys)
dbSNP gnomAD
6g.12296032G>CCA362857366EDN1c.604G>C (p.Glu202Gln)
c.601G>C (p.Glu201Gln)
6g.12296032G=CA1610830965EDN1c.604G= (p.Glu202=)
c.601G= (p.Glu201=)
6g.12296032G>TCA362857367EDN1c.604G>T (p.Glu202Ter)
c.601G>T (p.Glu201Ter)
6g.12296033A>CCA362857368EDN1c.605A>C (p.Glu202Ala)
c.602A>C (p.Glu201Ala)
6g.12296033A>GCA362857369EDN1c.605A>G (p.Glu202Gly)
c.602A>G (p.Glu201Gly)
6g.12296033A>TCA362857370EDN1c.605A>T (p.Glu202Val)
c.602A>T (p.Glu201Val)
6g.12296034G>ACA448427976EDN1c.606G>A (p.Glu202=)
c.603G>A (p.Glu201=)
6g.12296034G>CCA362857371EDN1c.606G>C (p.Glu202Asp)
c.603G>C (p.Glu201Asp)
6g.12296034G=CA1610830969EDN1c.606G= (p.Glu202=)
c.603G= (p.Glu201=)
6g.12296034G>TCA362857372EDN1c.606G>T (p.Glu202Asp)
c.603G>T (p.Glu201Asp)

Number of alleles fetched