Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.12296022G>A | CA448427968 | EDN1 | c.594G>A (p.Lys198=) c.591G>A (p.Lys197=) | |
6 | g.12296022G>C | CA362857349 | EDN1 | c.594G>C (p.Lys198Asn) c.591G>C (p.Lys197Asn) | |
6 | g.12296022G= | CA1610830931 | EDN1 | c.594G= (p.Lys198=) c.591G= (p.Lys197=) | |
6 | g.12296022G>T | CA126756 | EDN1 | c.594G>T (p.Lys198Asn) c.591G>T (p.Lys197Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296023C>A | CA362857350 | EDN1 | c.595C>A (p.Pro199Thr) c.592C>A (p.Pro198Thr) | gnomAD v4 |
6 | g.12296023C= | CA1610830938 | EDN1 | c.595C= (p.Pro199=) c.592C= (p.Pro198=) | |
6 | g.12296023C>G | CA362857351 | EDN1 | c.595C>G (p.Pro199Ala) c.592C>G (p.Pro198Ala) | |
6 | g.12296023C>T | CA3638771 | EDN1 | c.595C>T (p.Pro199Ser) c.592C>T (p.Pro198Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296024C>A | CA362857352 | EDN1 | c.596C>A (p.Pro199His) c.593C>A (p.Pro198His) | |
6 | g.12296024C= | CA1610830942 | EDN1 | c.596C= (p.Pro199=) c.593C= (p.Pro198=) | |
6 | g.12296024C>G | CA362857353 | EDN1 | c.596C>G (p.Pro199Arg) c.593C>G (p.Pro198Arg) | |
6 | g.12296024C>T | CA3638772 | EDN1 | c.596C>T (p.Pro199Leu) c.593C>T (p.Pro198Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.12296025C>A | CA448427969 | EDN1 | c.597C>A (p.Pro199=) c.594C>A (p.Pro198=) | |
6 | g.12296025C= | CA1610830946 | EDN1 | c.597C= (p.Pro199=) c.594C= (p.Pro198=) | |
6 | g.12296025C>G | CA448427970 | EDN1 | c.597C>G (p.Pro199=) c.594C>G (p.Pro198=) | |
6 | g.12296025C>T | CA3638773 | EDN1 | c.597C>T (p.Pro199=) c.594C>T (p.Pro198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12296026T>A | CA362857354 | EDN1 | c.598T>A (p.Ser200Thr) c.595T>A (p.Ser199Thr) | |
6 | g.12296026T>C | CA362857355 | EDN1 | c.598T>C (p.Ser200Pro) c.595T>C (p.Ser199Pro) | dbSNP |
6 | g.12296026T>G | CA362857356 | EDN1 | c.598T>G (p.Ser200Ala) c.595T>G (p.Ser199Ala) | |
6 | g.12296026T= | CA1610830948 | EDN1 | c.598T= (p.Ser200=) c.595T= (p.Ser199=) | |
6 | g.12296027C>A | CA362857359 | EDN1 | c.599C>A (p.Ser200Tyr) c.596C>A (p.Ser199Tyr) | |
6 | g.12296027C>G | CA362857358 | EDN1 | c.599C>G (p.Ser200Cys) c.596C>G (p.Ser199Cys) | |
6 | g.12296027C>T | CA362857357 | EDN1 | c.599C>T (p.Ser200Phe) c.596C>T (p.Ser199Phe) | |
6 | g.12296028C>A | CA448427971 | EDN1 | c.600C>A (p.Ser200=) c.597C>A (p.Ser199=) | |
6 | g.12296028C= | CA1610830951 | EDN1 | c.600C= (p.Ser200=) c.597C= (p.Ser199=) | |
6 | g.12296028C>G | CA448427973 | EDN1 | c.600C>G (p.Ser200=) c.597C>G (p.Ser199=) | |
6 | g.12296028C>T | CA448427972 | EDN1 | c.600C>T (p.Ser200=) c.597C>T (p.Ser199=) | gnomAD v4 |
6 | g.12296029A= | CA1610830957 | EDN1 | c.601A= (p.Arg201=) c.598A= (p.Arg200=) | |
6 | g.12296029A>C | CA448427974 | EDN1 | c.601A>C (p.Arg201=) c.598A>C (p.Arg200=) | |
6 | g.12296029A>G | CA3638774 | EDN1 | c.601A>G (p.Arg201Gly) c.598A>G (p.Arg200Gly) | dbSNP ExAC gnomAD v2 |
6 | g.12296029A>T | CA362857360 | EDN1 | c.601A>T (p.Arg201Ter) c.598A>T (p.Arg200Ter) | |
6 | g.12296029dup | CA565609779 | EDN1 | c.601dup (p.Arg201LysfsTer?) c.598dup (p.Arg200LysfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12296030G>A | CA362857361 | EDN1 | c.602G>A (p.Arg201Lys) c.599G>A (p.Arg200Lys) | |
6 | g.12296030G>C | CA362857362 | EDN1 | c.602G>C (p.Arg201Thr) c.599G>C (p.Arg200Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12296030G= | CA1610830962 | EDN1 | c.602G= (p.Arg201=) c.599G= (p.Arg200=) | |
6 | g.12296030G>T | CA362857363 | EDN1 | c.602G>T (p.Arg201Ile) c.599G>T (p.Arg200Ile) | |
6 | g.12296031A>C | CA362857364 | EDN1 | c.603A>C (p.Arg201Ser) c.600A>C (p.Arg200Ser) | |
6 | g.12296031A>G | CA448427975 | EDN1 | c.603A>G (p.Arg201=) c.600A>G (p.Arg200=) | |
6 | g.12296031A>T | CA362857365 | EDN1 | c.603A>T (p.Arg201Ser) c.600A>T (p.Arg200Ser) | |
6 | g.12296032G>A | CA134218082 | EDN1 | c.604G>A (p.Glu202Lys) c.601G>A (p.Glu201Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12296032G>C | CA362857366 | EDN1 | c.604G>C (p.Glu202Gln) c.601G>C (p.Glu201Gln) | |
6 | g.12296032G= | CA1610830965 | EDN1 | c.604G= (p.Glu202=) c.601G= (p.Glu201=) | |
6 | g.12296032G>T | CA362857367 | EDN1 | c.604G>T (p.Glu202Ter) c.601G>T (p.Glu201Ter) | |
6 | g.12296033A>C | CA362857368 | EDN1 | c.605A>C (p.Glu202Ala) c.602A>C (p.Glu201Ala) | |
6 | g.12296033A>G | CA362857369 | EDN1 | c.605A>G (p.Glu202Gly) c.602A>G (p.Glu201Gly) | gnomAD v4 |
6 | g.12296033A>T | CA362857370 | EDN1 | c.605A>T (p.Glu202Val) c.602A>T (p.Glu201Val) | |
6 | g.12296034G>A | CA448427976 | EDN1 | c.606G>A (p.Glu202=) c.603G>A (p.Glu201=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12296034G>C | CA362857371 | EDN1 | c.606G>C (p.Glu202Asp) c.603G>C (p.Glu201Asp) | gnomAD v4 |
6 | g.12296034G= | CA1610830969 | EDN1 | c.606G= (p.Glu202=) c.603G= (p.Glu201=) | |
6 | g.12296034G>T | CA362857372 | EDN1 | c.606G>T (p.Glu202Asp) c.603G>T (p.Glu201Asp) |