Chr Mutation (hg38) CAid Gene Transcript Linkouts
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 v2 gnomAD v4
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)
gnomAD v4
6g.12296033A>TCA362857370EDN1c.605A>T (p.Glu202Val)
c.602A>T (p.Glu201Val)
6g.12296034G>ACA448427976EDN1c.606G>A (p.Glu202=)
c.603G>A (p.Glu201=)
dbSNP gnomAD v3 gnomAD v4
6g.12296034G>CCA362857371EDN1c.606G>C (p.Glu202Asp)
c.603G>C (p.Glu201Asp)
gnomAD v4
6g.12296034G=CA1610830969EDN1c.606G= (p.Glu202=)
c.603G= (p.Glu201=)
6g.12296034G>TCA362857372EDN1c.606G>T (p.Glu202Asp)
c.603G>T (p.Glu201Asp)
6g.12296035C>ACA362857373EDN1c.607C>A (p.Arg203Ser)
c.604C>A (p.Arg202Ser)
6g.12296035C=CA1610830974EDN1c.607C= (p.Arg203=)
c.604C= (p.Arg202=)
6g.12296035C>GCA362857374EDN1c.607C>G (p.Arg203Gly)
c.604C>G (p.Arg202Gly)
dbSNP
6g.12296035C>TCA3638775EDN1c.607C>T (p.Arg203Cys)
c.604C>T (p.Arg202Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)

Number of alleles fetched