Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.12296036G>ACA134218085EDN1c.608G>A (p.Arg203His)
c.605G>A (p.Arg202His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.12296036G>CCA362857375EDN1c.608G>C (p.Arg203Pro)
c.605G>C (p.Arg202Pro)
6g.12296036G=CA1610830977EDN1c.608G= (p.Arg203=)
c.605G= (p.Arg202=)
6g.12296036G>TCA362857376EDN1c.608G>T (p.Arg203Leu)
c.605G>T (p.Arg202Leu)
gnomAD v4
6g.12296037T>ACA448427977EDN1c.609T>A (p.Arg203=)
c.606T>A (p.Arg202=)
dbSNP gnomAD v2
6g.12296037T>CCA448427978EDN1c.609T>C (p.Arg203=)
c.606T>C (p.Arg202=)
6g.12296037T>GCA448427979EDN1c.609T>G (p.Arg203=)
c.606T>G (p.Arg202=)
6g.12296037T=CA1610830979EDN1c.609T= (p.Arg203=)
c.606T= (p.Arg202=)
6g.12296038T>ACA362857377EDN1c.610T>A (p.Tyr204Asn)
c.607T>A (p.Tyr203Asn)
6g.12296038T>CCA362857378EDN1c.610T>C (p.Tyr204His)
c.607T>C (p.Tyr203His)
6g.12296038T>GCA362857379EDN1c.610T>G (p.Tyr204Asp)
c.607T>G (p.Tyr203Asp)
6g.12296038T=CA1610830984EDN1c.610T= (p.Tyr204=)
c.607T= (p.Tyr203=)
6g.12296039A=CA1610830989EDN1c.611A= (p.Tyr204=)
c.608A= (p.Tyr203=)
6g.12296039A>CCA362857380EDN1c.611A>C (p.Tyr204Ser)
c.608A>C (p.Tyr203Ser)
6g.12296039A>GCA362857381EDN1c.611A>G (p.Tyr204Cys)
c.608A>G (p.Tyr203Cys)
dbSNP gnomAD v2 gnomAD v4
6g.12296039A>TCA362857382EDN1c.611A>T (p.Tyr204Phe)
c.608A>T (p.Tyr203Phe)
6g.12296039dupCA1610830988EDN1c.611dup (p.Tyr204Ter)
c.608dup (p.Tyr203Ter)
dbSNP
6g.12296040T>ACA362857384EDN1c.612T>A (p.Tyr204Ter)
c.609T>A (p.Tyr203Ter)
dbSNP gnomAD v4
6g.12296040T>CCA3638776EDN1c.612T>C (p.Tyr204=)
c.609T>C (p.Tyr203=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.12296040T>GCA362857383EDN1c.612T>G (p.Tyr204Ter)
c.609T>G (p.Tyr203Ter)
6g.12296040T=CA1610830992EDN1c.612T= (p.Tyr204=)
c.609T= (p.Tyr203=)
6g.12296041G>ACA362857385EDN1c.613G>A (p.Val205Met)
c.610G>A (p.Val204Met)
6g.12296041G>CCA362857386EDN1c.613G>C (p.Val205Leu)
c.610G>C (p.Val204Leu)
6g.12296041G>TCA362857387EDN1c.613G>T (p.Val205Leu)
c.610G>T (p.Val204Leu)
6g.12296042T>ACA362857388EDN1c.614T>A (p.Val205Glu)
c.611T>A (p.Val204Glu)
dbSNP
6g.12296042T>CCA362857389EDN1c.614T>C (p.Val205Ala)
c.611T>C (p.Val204Ala)
dbSNP
6g.12296042T>GCA362857390EDN1c.614T>G (p.Val205Gly)
c.611T>G (p.Val204Gly)
6g.12296042T=CA1610830996EDN1c.614T= (p.Val205=)
c.611T= (p.Val204=)
6g.12296043G>ACA448427980EDN1c.615G>A (p.Val205=)
c.612G>A (p.Val204=)
6g.12296043G>CCA448427981EDN1c.615G>C (p.Val205=)
c.612G>C (p.Val204=)
6g.12296043G>TCA448427982EDN1c.615G>T (p.Val205=)
c.612G>T (p.Val204=)
6g.12296044A>CCA362857391EDN1c.616A>C (p.Thr206Pro)
c.613A>C (p.Thr205Pro)
6g.12296044A>GCA362857393EDN1c.616A>G (p.Thr206Ala)
c.613A>G (p.Thr205Ala)
gnomAD v4
6g.12296044A>TCA362857392EDN1c.616A>T (p.Thr206Ser)
c.613A>T (p.Thr205Ser)
6g.12296045C>ACA362857394EDN1c.617C>A (p.Thr206Asn)
c.614C>A (p.Thr205Asn)
6g.12296045C>GCA362857395EDN1c.617C>G (p.Thr206Ser)
c.614C>G (p.Thr205Ser)
ClinVar
6g.12296045C>TCA362857396EDN1c.617C>T (p.Thr206Ile)
c.614C>T (p.Thr205Ile)
6g.12296046C>ACA448427985EDN1c.618C>A (p.Thr206=)
c.615C>A (p.Thr205=)
gnomAD v4
6g.12296046C>GCA448427983EDN1c.618C>G (p.Thr206=)
c.615C>G (p.Thr205=)
6g.12296046C>TCA448427984EDN1c.618C>T (p.Thr206=)
c.615C>T (p.Thr205=)
6g.12296048_12296053dupCA2578531343EDN1c.620_625dup (p.Asn208_Arg209insHisAsn)
c.617_622dup (p.Asn207_Arg208insHisAsn)
6g.12296046_12296056delinsCCACAACCGAGCA1610830999EDN1c.618_628delinsCCACAACCGAG (p.Thr206=)
c.615_625delinsCCACAACCGAG (p.Thr205=)
6g.12296047C>ACA362857399EDN1c.619C>A (p.His207Asn)
c.616C>A (p.His206Asn)
6g.12296047C=CA1610831003EDN1c.619C= (p.His207=)
c.616C= (p.His206=)
6g.12296047C>GCA362857397EDN1c.619C>G (p.His207Asp)
c.616C>G (p.His206Asp)
dbSNP gnomAD v3 gnomAD v4
6g.12296047C>TCA362857398EDN1c.619C>T (p.His207Tyr)
c.616C>T (p.His206Tyr)
6g.12296051_12296060delCA3638777EDN1c.623_632del (p.Asn208IlefsTer10)
c.620_629del (p.Asn207IlefsTer10)
dbSNP ExAC gnomAD v2
6g.12296048A>CCA362857400EDN1c.620A>C (p.His207Pro)
c.617A>C (p.His206Pro)
6g.12296048A>GCA362857401EDN1c.620A>G (p.His207Arg)
c.617A>G (p.His206Arg)
6g.12296048A>TCA362857402EDN1c.620A>T (p.His207Leu)
c.617A>T (p.His206Leu)

Number of alleles fetched