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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.12296036G>A | CA134218085 | EDN1 | c.608G>A (p.Arg203His) c.605G>A (p.Arg202His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) | gnomAD v4 |
| 6 | g.12296037T>A | CA448427977 | EDN1 | c.609T>A (p.Arg203=) c.606T>A (p.Arg202=) | dbSNP gnomAD v2 |
| 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.12296038del | CA2770023940 | EDN1 | c.610del (p.Tyr204MetfsTer2) c.607del (p.Tyr203MetfsTer2) | |
| 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) | 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) |