| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | dbSNP gnomAD v2 gnomAD v4 |
| 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) | dbSNP gnomAD v4 |
| 6 | g.12296040T>C | CA3638776 | EDN1 | c.612T>C (p.Tyr204=) c.609T>C (p.Tyr203=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296040T>G | CA362857383 | EDN1 | c.612T>G (p.Tyr204Ter) c.609T>G (p.Tyr203Ter) | |
| 6 | g.12296040T= | CA1610830992 | EDN1 | c.612T= (p.Tyr204=) c.609T= (p.Tyr203=) | |
| 6 | g.12296041G>A | CA362857385 | EDN1 | c.613G>A (p.Val205Met) c.610G>A (p.Val204Met) | |
| 6 | g.12296041G>C | CA362857386 | EDN1 | c.613G>C (p.Val205Leu) c.610G>C (p.Val204Leu) | |
| 6 | g.12296041G>T | CA362857387 | EDN1 | c.613G>T (p.Val205Leu) c.610G>T (p.Val204Leu) | |
| 6 | g.12296042T>A | CA362857388 | EDN1 | c.614T>A (p.Val205Glu) c.611T>A (p.Val204Glu) | dbSNP |
| 6 | g.12296042T>C | CA362857389 | EDN1 | c.614T>C (p.Val205Ala) c.611T>C (p.Val204Ala) | dbSNP |
| 6 | g.12296042T>G | CA362857390 | EDN1 | c.614T>G (p.Val205Gly) c.611T>G (p.Val204Gly) | |
| 6 | g.12296042T= | CA1610830996 | EDN1 | c.614T= (p.Val205=) c.611T= (p.Val204=) | |
| 6 | g.12296043G>A | CA448427980 | EDN1 | c.615G>A (p.Val205=) c.612G>A (p.Val204=) | |
| 6 | g.12296043G>C | CA448427981 | EDN1 | c.615G>C (p.Val205=) c.612G>C (p.Val204=) | |
| 6 | g.12296043G>T | CA448427982 | EDN1 | c.615G>T (p.Val205=) c.612G>T (p.Val204=) | |
| 6 | g.12296044A>C | CA362857391 | EDN1 | c.616A>C (p.Thr206Pro) c.613A>C (p.Thr205Pro) | |
| 6 | g.12296044A>G | CA362857393 | EDN1 | c.616A>G (p.Thr206Ala) c.613A>G (p.Thr205Ala) | gnomAD v4 |
| 6 | g.12296044A>T | CA362857392 | EDN1 | c.616A>T (p.Thr206Ser) c.613A>T (p.Thr205Ser) | |
| 6 | g.12296045C>A | CA362857394 | EDN1 | c.617C>A (p.Thr206Asn) c.614C>A (p.Thr205Asn) | |
| 6 | g.12296045C>G | CA362857395 | EDN1 | c.617C>G (p.Thr206Ser) c.614C>G (p.Thr205Ser) | ClinVar |
| 6 | g.12296045C>T | CA362857396 | EDN1 | c.617C>T (p.Thr206Ile) c.614C>T (p.Thr205Ile) | |
| 6 | g.12296046C>A | CA448427985 | EDN1 | c.618C>A (p.Thr206=) c.615C>A (p.Thr205=) | gnomAD v4 |
| 6 | g.12296046C>G | CA448427983 | EDN1 | c.618C>G (p.Thr206=) c.615C>G (p.Thr205=) | |
| 6 | g.12296046C>T | CA448427984 | EDN1 | c.618C>T (p.Thr206=) c.615C>T (p.Thr205=) | |
| 6 | g.12296048_12296053dup | CA2578531343 | EDN1 | c.620_625dup (p.Asn208_Arg209insHisAsn) c.617_622dup (p.Asn207_Arg208insHisAsn) | |
| 6 | g.12296046_12296056delinsCCACAACCGAG | CA1610830999 | EDN1 | c.618_628delinsCCACAACCGAG (p.Thr206=) c.615_625delinsCCACAACCGAG (p.Thr205=) | |
| 6 | g.12296047C>A | CA362857399 | EDN1 | c.619C>A (p.His207Asn) c.616C>A (p.His206Asn) | |
| 6 | g.12296047C= | CA1610831003 | EDN1 | c.619C= (p.His207=) c.616C= (p.His206=) | |
| 6 | g.12296047C>G | CA362857397 | EDN1 | c.619C>G (p.His207Asp) c.616C>G (p.His206Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12296047C>T | CA362857398 | EDN1 | c.619C>T (p.His207Tyr) c.616C>T (p.His206Tyr) | |
| 6 | g.12296051_12296060del | CA3638777 | EDN1 | c.623_632del (p.Asn208IlefsTer10) c.620_629del (p.Asn207IlefsTer10) | dbSNP ExAC gnomAD v2 |
| 6 | g.12296048A>C | CA362857400 | EDN1 | c.620A>C (p.His207Pro) c.617A>C (p.His206Pro) | |
| 6 | g.12296048A>G | CA362857401 | EDN1 | c.620A>G (p.His207Arg) c.617A>G (p.His206Arg) | |
| 6 | g.12296048A>T | CA362857402 | EDN1 | c.620A>T (p.His207Leu) c.617A>T (p.His206Leu) | |
| 6 | g.12296049C>A | CA362857403 | EDN1 | c.621C>A (p.His207Gln) c.618C>A (p.His206Gln) | |
| 6 | g.12296049C>G | CA362857404 | EDN1 | c.621C>G (p.His207Gln) c.618C>G (p.His206Gln) | gnomAD v4 |
| 6 | g.12296049C>T | CA448427986 | EDN1 | c.621C>T (p.His207=) c.618C>T (p.His206=) | |
| 6 | g.12296050A>C | CA362857405 | EDN1 | c.622A>C (p.Asn208His) c.619A>C (p.Asn207His) | |
| 6 | g.12296050A>G | CA362857406 | EDN1 | c.622A>G (p.Asn208Asp) c.619A>G (p.Asn207Asp) | |
| 6 | g.12296050A>T | CA362857407 | EDN1 | c.622A>T (p.Asn208Tyr) c.619A>T (p.Asn207Tyr) | |
| 6 | g.12296051A>C | CA362857408 | EDN1 | c.623A>C (p.Asn208Thr) c.620A>C (p.Asn207Thr) | |
| 6 | g.12296051A>G | CA362857409 | EDN1 | c.623A>G (p.Asn208Ser) c.620A>G (p.Asn207Ser) | |
| 6 | g.12296051A>T | CA362857410 | EDN1 | c.623A>T (p.Asn208Ile) c.620A>T (p.Asn207Ile) | |
| 6 | g.12296051_12296052delinsAC | CA1610831006 | EDN1 | c.623_624delinsAC (p.Asn208=) c.620_621delinsAC (p.Asn207=) | |
| 6 | g.12296052C>A | CA362857411 | EDN1 | c.624C>A (p.Asn208Lys) c.621C>A (p.Asn207Lys) | gnomAD v4 |
| 6 | g.12296052C= | CA1610831009 | EDN1 | c.624C= (p.Asn208=) c.621C= (p.Asn207=) |