| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 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 |
| 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 |
| 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) | |
| 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 |
| 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) | |
| 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=) | |
| 6 | g.12296034G>C | CA362857371 | EDN1 | c.606G>C (p.Glu202Asp) c.603G>C (p.Glu201Asp) | |
| 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) | |
| 6 | g.12296035C>A | CA362857373 | EDN1 | c.607C>A (p.Arg203Ser) c.604C>A (p.Arg202Ser) | |
| 6 | g.12296035C= | CA1610830974 | EDN1 | c.607C= (p.Arg203=) c.604C= (p.Arg202=) | |
| 6 | g.12296035C>G | CA362857374 | EDN1 | c.607C>G (p.Arg203Gly) c.604C>G (p.Arg202Gly) | |
| 6 | g.12296035C>T | CA3638775 | EDN1 | c.607C>T (p.Arg203Cys) c.604C>T (p.Arg202Cys) | dbSNP ExAC gnomAD |
| 6 | g.12296036G>A | CA134218085 | EDN1 | c.608G>A (p.Arg203His) c.605G>A (p.Arg202His) | dbSNP gnomAD |
| 6 | g.12296036G>C | CA362857375 | EDN1 | c.608G>C (p.Arg203Pro) c.605G>C (p.Arg202Pro) | |
| 6 | g.12296036G= | CA1610830977 | EDN1 | c.608G= (p.Arg203=) c.605G= (p.Arg202=) | |
| 6 | g.12296036G>T | CA362857376 | EDN1 | c.608G>T (p.Arg203Leu) c.605G>T (p.Arg202Leu) | |
| 6 | g.12296037T>A | CA448427977 | EDN1 | c.609T>A (p.Arg203=) c.606T>A (p.Arg202=) | gnomAD |
| 6 | g.12296037T>C | CA448427978 | EDN1 | c.609T>C (p.Arg203=) c.606T>C (p.Arg202=) | |
| 6 | g.12296037T>G | CA448427979 | EDN1 | c.609T>G (p.Arg203=) c.606T>G (p.Arg202=) | |
| 6 | g.12296037T= | CA1610830979 | EDN1 | c.609T= (p.Arg203=) c.606T= (p.Arg202=) | |
| 6 | g.12296038T>A | CA362857377 | EDN1 | c.610T>A (p.Tyr204Asn) c.607T>A (p.Tyr203Asn) | |
| 6 | g.12296038T>C | CA362857378 | EDN1 | c.610T>C (p.Tyr204His) c.607T>C (p.Tyr203His) | |
| 6 | g.12296038T>G | CA362857379 | EDN1 | c.610T>G (p.Tyr204Asp) c.607T>G (p.Tyr203Asp) | |
| 6 | g.12296038T= | CA1610830984 | EDN1 | c.610T= (p.Tyr204=) c.607T= (p.Tyr203=) | |
| 6 | g.12296039A= | CA1610830989 | EDN1 | c.611A= (p.Tyr204=) c.608A= (p.Tyr203=) | |
| 6 | g.12296039A>C | CA362857380 | EDN1 | c.611A>C (p.Tyr204Ser) c.608A>C (p.Tyr203Ser) | |
| 6 | g.12296039A>G | CA362857381 | EDN1 | c.611A>G (p.Tyr204Cys) c.608A>G (p.Tyr203Cys) | gnomAD |
| 6 | g.12296039A>T | CA362857382 | EDN1 | c.611A>T (p.Tyr204Phe) c.608A>T (p.Tyr203Phe) | |
| 6 | g.12296039dup | CA1610830988 | EDN1 | c.611dup (p.Tyr204Ter) c.608dup (p.Tyr203Ter) | dbSNP |
| 6 | g.12296040T>A | CA362857384 | EDN1 | c.612T>A (p.Tyr204Ter) c.609T>A (p.Tyr203Ter) | |
| 6 | g.12296040T>C | CA3638776 | EDN1 | c.612T>C (p.Tyr204=) c.609T>C (p.Tyr203=) | dbSNP ExAC gnomAD |