Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
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) | dbSNP |
6 | g.12296035C>T | CA3638775 | EDN1 | c.607C>T (p.Arg203Cys) c.604C>T (p.Arg202Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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) | |
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=) | |
6 | g.12296052C>G | CA362857412 | EDN1 | c.624C>G (p.Asn208Lys) c.621C>G (p.Asn207Lys) | |
6 | g.12296052C>T | CA448427987 | EDN1 | c.624C>T (p.Asn208=) c.621C>T (p.Asn207=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296053dup | CA2841588608 | EDN1 | c.625dup (p.Arg209ProfsTer?) c.622dup (p.Arg208ProfsTer?) | |
6 | g.12296053del | CA1610831008 | EDN1 | c.625del (p.Arg209GlufsTer12) c.622del (p.Arg208GlufsTer12) | dbSNP |
6 | g.12296053C>A | CA448427988 | EDN1 | c.625C>A (p.Arg209=) c.622C>A (p.Arg208=) | |
6 | g.12296053C= | CA1610831012 | EDN1 | c.625C= (p.Arg209=) c.622C= (p.Arg208=) | |
6 | g.12296053C>G | CA362857413 | EDN1 | c.625C>G (p.Arg209Gly) c.622C>G (p.Arg208Gly) | gnomAD v4 |
6 | g.12296053C>T | CA3638778 | EDN1 | c.625C>T (p.Arg209Ter) c.622C>T (p.Arg208Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296054G>A | CA3638779 | EDN1 | c.626G>A (p.Arg209Gln) c.623G>A (p.Arg208Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.12296054G>C | CA362857415 | EDN1 | c.626G>C (p.Arg209Pro) c.623G>C (p.Arg208Pro) | |
6 | g.12296054G= | CA1610831013 | EDN1 | c.626G= (p.Arg209=) c.623G= (p.Arg208=) | |
6 | g.12296054G>T | CA362857414 | EDN1 | c.626G>T (p.Arg209Leu) c.623G>T (p.Arg208Leu) | gnomAD v4 |
6 | g.12296055A>C | CA448427991 | EDN1 | c.627A>C (p.Arg209=) c.624A>C (p.Arg208=) | gnomAD v4 |
6 | g.12296055A>G | CA448427990 | EDN1 | c.627A>G (p.Arg209=) c.624A>G (p.Arg208=) | gnomAD v4 |
6 | g.12296055A>T | CA448427989 | EDN1 | c.627A>T (p.Arg209=) c.624A>T (p.Arg208=) | |
6 | g.12296056G>A | CA362857416 | EDN1 | c.628G>A (p.Ala210Thr) c.625G>A (p.Ala209Thr) | gnomAD v4 |
6 | g.12296056G>C | CA362857417 | EDN1 | c.628G>C (p.Ala210Pro) c.625G>C (p.Ala209Pro) | |
6 | g.12296056G>T | CA362857418 | EDN1 | c.628G>T (p.Ala210Ser) c.625G>T (p.Ala209Ser) | gnomAD v4 |
6 | g.12296057C>A | CA362857419 | EDN1 | c.629C>A (p.Ala210Glu) c.626C>A (p.Ala209Glu) | |
6 | g.12296057C= | CA1610831016 | EDN1 | c.629C= (p.Ala210=) c.626C= (p.Ala209=) | |
6 | g.12296057C>G | CA362857420 | EDN1 | c.629C>G (p.Ala210Gly) c.626C>G (p.Ala209Gly) | |
6 | g.12296057C>T | CA362857421 | EDN1 | c.629C>T (p.Ala210Val) c.626C>T (p.Ala209Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12296058A>C | CA448427992 | EDN1 | c.630A>C (p.Ala210=) c.627A>C (p.Ala209=) | |
6 | g.12296058A>G | CA448427993 | EDN1 | c.630A>G (p.Ala210=) c.627A>G (p.Ala209=) | |
6 | g.12296058A>T | CA448427994 | EDN1 | c.630A>T (p.Ala210=) c.627A>T (p.Ala209=) | |
6 | g.12296059C>A | CA362857422 | EDN1 | c.631C>A (p.His211Asn) c.628C>A (p.His210Asn) | |
6 | g.12296059C>G | CA362857423 | EDN1 | c.631C>G (p.His211Asp) c.628C>G (p.His210Asp) | |
6 | g.12296059C>T | CA362857424 | EDN1 | c.631C>T (p.His211Tyr) c.628C>T (p.His210Tyr) | |
6 | g.12296060A= | CA1610831018 | EDN1 | c.632A= (p.His211=) c.629A= (p.His210=) | |
6 | g.12296060A>C | CA362857426 | EDN1 | c.632A>C (p.His211Pro) c.629A>C (p.His210Pro) | |
6 | g.12296060A>G | CA3638780 | EDN1 | c.632A>G (p.His211Arg) c.629A>G (p.His210Arg) | dbSNP ExAC gnomAD v4 |
6 | g.12296060A>T | CA362857425 | EDN1 | c.632A>T (p.His211Leu) c.629A>T (p.His210Leu) | |
6 | g.12296061T>A | CA362857427 | EDN1 | c.633T>A (p.His211Gln) c.630T>A (p.His210Gln) | |
6 | g.12296061T>C | CA3638781 | EDN1 | c.633T>C (p.His211=) c.630T>C (p.His210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296061T>G | CA362857428 | EDN1 | c.633T>G (p.His211Gln) c.630T>G (p.His210Gln) | dbSNP |
6 | g.12296061T= | CA1610831021 | EDN1 | c.633T= (p.His211=) c.630T= (p.His210=) | |
6 | g.12296062T>A | CA362857429 | EDN1 | c.634T>A (p.Trp212Arg) c.631T>A (p.Trp211Arg) | |
6 | g.12296062T>C | CA3638782 | EDN1 | c.634T>C (p.Trp212Arg) c.631T>C (p.Trp211Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296062T>G | CA362857430 | EDN1 | c.634T>G (p.Trp212Gly) c.631T>G (p.Trp211Gly) | |
6 | g.12296062T= | CA1610831026 | EDN1 | c.634T= (p.Trp212=) c.631T= (p.Trp211=) | |
6 | g.12296063G>A | CA362857431 | EDN1 | c.635G>A (p.Trp212Ter) c.632G>A (p.Trp211Ter) | |
6 | g.12296063G>C | CA362857432 | EDN1 | c.635G>C (p.Trp212Ser) c.632G>C (p.Trp211Ser) | |
6 | g.12296063G>T | CA362857433 | EDN1 | c.635G>T (p.Trp212Leu) c.632G>T (p.Trp211Leu) | |
6 | g.12296064G>A | CA134218091 | EDN1 | c.636G>A (p.Trp212Ter) c.633G>A (p.Trp211Ter) | dbSNP gnomAD v4 |
6 | g.12296064G>C | CA3638783 | EDN1 | c.636G>C (p.Trp212Cys) c.633G>C (p.Trp211Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12296064G= | CA1610831029 | EDN1 | c.636G= (p.Trp212=) c.633G= (p.Trp211=) | |
6 | g.12296064G>T | CA362857434 | EDN1 | c.636G>T (p.Trp212Cys) c.633G>T (p.Trp211Cys) | |
6 | g.12296065T>A | CA3638784 | EDN1 | c.637T>A (p.Ter213Arg) c.634T>A (p.Ter212Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12296065T>C | CA362857435 | EDN1 | c.637T>C (p.Ter213Arg) c.634T>C (p.Ter212Arg) | |
6 | g.12296065T>G | CA362857436 | EDN1 | c.637T>G (p.Ter213Gly) c.634T>G (p.Ter212Gly) | |
6 | g.12296065T= | CA1610831035 | EDN1 | c.637T= (p.Ter213=) c.634T= (p.Ter212=) | |
6 | g.12296066G>A | CA448427995 | EDN1 | c.638G>A (p.Ter213=) c.635G>A (p.Ter212=) | |
6 | g.12296066G>C | CA362857437 | EDN1 | c.638G>C (p.Ter213Ser) c.635G>C (p.Ter212Ser) | |
6 | g.12296066G>T | CA362857438 | EDN1 | c.638G>T (p.Ter213Leu) c.635G>T (p.Ter212Leu) | |
6 | g.12296067A= | CA1610831038 | EDN1 | c.639A= (p.Ter213=) c.636A= (p.Ter212=) | |
6 | g.12296067A>C | CA362857439 | EDN1 | c.639A>C (p.Ter213Cys) c.636A>C (p.Ter212Cys) | |
6 | g.12296067A>G | CA362857440 | EDN1 | c.639A>G (p.Ter213Trp) c.636A>G (p.Ter212Trp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12296067A>T | CA362857441 | EDN1 | c.639A>T (p.Ter213Cys) c.636A>T (p.Ter212Cys) | |
6 | g.12296070_12296071insGCCCCGAAGGTCTGTC | CA2677350378 | EDN1 | c.*3_*4insGCCCCGAAGGTCTGTC (n.*3_*4insGCCCCGAAGGTCTGTC) | gnomAD v4 |
6 | g.12296071dup | CA650509208 | EDN1 | c.*4dup (n.*4dup) | COSMIC |
6 | g.12296072C>A | CA1610831041 | EDN1 | c.*5C>A (n.*5C>A) | dbSNP gnomAD v4 |
6 | g.12296072C= | CA1610831040 | EDN1 | c.*5C= (n.*5C=) | |
6 | g.12296072C>T | CA1610831042 | EDN1 | c.*5C>T (n.*5C>T) | dbSNP gnomAD v4 |
6 | g.12296076C>A | CA2841588609 | EDN1 | c.*9C>A (n.*9C>A) | |
6 | g.12296076C= | CA1610831045 | EDN1 | c.*9C= (n.*9C=) | |
6 | g.12296076C>T | CA3638785 | EDN1 | c.*9C>T (n.*9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296076_12296077delinsCG | CA1610831046 | EDN1 | c.*9_*10delinsCG (n.*9_*10delinsCG) | |
6 | g.12296077G>A | CA3638786 | EDN1 | c.*10G>A (n.*10G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296077G>C | CA2578531344 | EDN1 | c.*10G>C (n.*10G>C) | gnomAD v4 |
6 | g.12296077G= | CA1610831052 | EDN1 | c.*10G= (n.*10G=) | |
6 | g.12296080del | CA1610831048 | EDN1 | c.*13del (n.*13del) | dbSNP |
6 | g.12296078G>A | CA2578531345 | EDN1 | c.*11G>A (n.*11G>A) | gnomAD v4 |
6 | g.12296080G>A | CA3638787 | EDN1 | c.*13G>A (n.*13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12296080G= | CA1610831053 | EDN1 | c.*13G= (n.*13G=) | |
6 | g.12296081C>A | CA3638789 | EDN1 | c.*14C>A (n.*14C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12296081C= | CA1610831056 | EDN1 | c.*14C= (n.*14C=) | |
6 | g.12296081C>T | CA3638788 | EDN1 | c.*14C>T (n.*14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296082C>A | CA2578531346 | EDN1 | c.*15C>A (n.*15C>A) | |
6 | g.12296086C>A | CA3638790 | EDN1 | c.*19C>A (n.*19C>A) | dbSNP ExAC gnomAD v2 |
6 | g.12296086C= | CA1610831059 | EDN1 | c.*19C= (n.*19C=) | |
6 | g.12296086C>T | CA134218097 | EDN1 | c.*19C>T (n.*19C>T) | dbSNP |
6 | g.12296088G>A | CA3638791 | EDN1 | c.*21G>A (n.*21G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12296088G= | CA1610831063 | EDN1 | c.*21G= (n.*21G=) | |
6 | g.12296090A>T | CA2677350379 | EDN1 | c.*23A>T (n.*23A>T) | gnomAD v4 |
6 | g.12296092C>A | CA2677350380 | EDN1 | c.*25C>A (n.*25C>A) | gnomAD v4 |
6 | g.12296092C>T | CA2677350381 | EDN1 | c.*25C>T (n.*25C>T) | gnomAD v4 |
6 | g.12296093C>G | CA2677350382 | EDN1 | c.*26C>G (n.*26C>G) | gnomAD v4 |
6 | g.12296093C>T | CA2578531347 | EDN1 | c.*26C>T (n.*26C>T) | |
6 | g.12296095T>C | CA2677350383 | EDN1 | c.*28T>C (n.*28T>C) | gnomAD v4 |
6 | g.12296096A>G | CA2677350384 | EDN1 | c.*29A>G (n.*29A>G) | gnomAD v4 |
6 | g.12296097G>A | CA565609844 | EDN1 | c.*30G>A (n.*30G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12296097G= | CA1610831067 | EDN1 | c.*30G= (n.*30G=) | |
6 | g.12296098C>A | CA2677350385 | EDN1 | c.*31C>A (n.*31C>A) | gnomAD v4 |
6 | g.12296098C= | CA1610831068 | EDN1 | c.*31C= (n.*31C=) | |
6 | g.12296098C>T | CA565609847 | EDN1 | c.*31C>T (n.*31C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12296102C>A | CA2677350386 | EDN1 | c.*35C>A (n.*35C>A) | gnomAD v4 |
6 | g.12296102C= | CA1610831070 | EDN1 | c.*35C= (n.*35C=) | |
6 | g.12296102C>T | CA818232308 | EDN1 | c.*35C>T (n.*35C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12296103A>G | CA2770023945 | EDN1 | c.*36A>G (n.*36A>G) | |
6 | g.12296104C>A | CA1610831074 | EDN1 | c.*37C>A (n.*37C>A) | dbSNP gnomAD v4 |
6 | g.12296104C= | CA1610831072 | EDN1 | c.*37C= (n.*37C=) | |
6 | g.12296104C>T | CA3638792 | EDN1 | c.*37C>T (n.*37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296105G>A | CA3638793 | EDN1 | c.*38G>A (n.*38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296105G= | CA1610831076 | EDN1 | c.*38G= (n.*38G=) | |
6 | g.12296106G>A | CA2677350387 | EDN1 | c.*39G>A (n.*39G>A) | gnomAD v4 |
6 | g.12296106G>T | CA2578531348 | EDN1 | c.*39G>T (n.*39G>T) | gnomAD v4 |
6 | g.12296108G>A | CA3638794 | EDN1 | c.*41G>A (n.*41G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12296108G= | CA1610831078 | EDN1 | c.*41G= (n.*41G=) | |
6 | g.12296110G>A | CA3638795 | EDN1 | c.*43G>A (n.*43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296110G= | CA1610831080 | EDN1 | c.*43G= (n.*43G=) | |
6 | g.12296111C>A | CA2578531349 | EDN1 | c.*44C>A (n.*44C>A) | |
6 | g.12296111C= | CA1610831082 | EDN1 | c.*44C= (n.*44C=) | |
6 | g.12296111C>G | CA1610831083 | EDN1 | c.*44C>G (n.*44C>G) | dbSNP gnomAD v4 |
6 | g.12296113C>A | CA2677350389 | EDN1 | c.*46C>A (n.*46C>A) | gnomAD v4 |
6 | g.12296113C>T | CA2677350388 | EDN1 | c.*46C>T (n.*46C>T) | gnomAD v4 |
6 | g.12296114T>C | CA2711034667 | EDN1 | c.*47T>C (n.*47T>C) | dbSNP |
6 | g.12296115G>A | CA3638796 | EDN1 | c.*48G>A (n.*48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296115G= | CA1610831085 | EDN1 | c.*48G= (n.*48G=) | |
6 | g.12296116T>C | CA2677350390 | EDN1 | c.*49T>C (n.*49T>C) | gnomAD v4 |
6 | g.12296116T>G | CA565609858 | EDN1 | c.*49T>G (n.*49T>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12296116T= | CA1610831087 | EDN1 | c.*49T= (n.*49T=) | |
6 | g.12296117G>A | CA565609859 | EDN1 | c.*50G>A (n.*50G>A) | dbSNP gnomAD v2 |
6 | g.12296117G= | CA1610831091 | EDN1 | c.*50G= (n.*50G=) | |
6 | g.12296118G>A | CA2578531350 | EDN1 | c.*51G>A (n.*51G>A) | gnomAD v4 |
6 | g.12296120C>A | CA2578531351 | EDN1 | c.*53C>A (n.*53C>A) | gnomAD v4 |
6 | g.12296120C= | CA1610831095 | EDN1 | c.*53C= (n.*53C=) | |
6 | g.12296120C>G | CA2578531352 | EDN1 | c.*53C>G (n.*53C>G) | gnomAD v4 |
6 | g.12296120C>T | CA134218104 | EDN1 | c.*53C>T (n.*53C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296121G>A | CA134218105 | EDN1 | c.*54G>A (n.*54G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296121G>C | CA2841588610 | EDN1 | c.*54G>C (n.*54G>C) | |
6 | g.12296121G= | CA1610831097 | EDN1 | c.*54G= (n.*54G=) | |
6 | g.12296121G>T | CA2677350391 | EDN1 | c.*54G>T (n.*54G>T) | gnomAD v4 |
6 | g.12296123C>A | CA2677350392 | EDN1 | c.*56C>A (n.*56C>A) | gnomAD v4 |
6 | g.12296123C= | CA1610831100 | EDN1 | c.*56C= (n.*56C=) | |
6 | g.12296123C>T | CA1086047759 | EDN1 | c.*56C>T (n.*56C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12296124T>A | CA2578531353 | EDN1 | c.*57T>A (n.*57T>A) | gnomAD v4 |
6 | g.12296124T>G | CA2677350393 | EDN1 | c.*57T>G (n.*57T>G) | gnomAD v4 |
6 | g.12296125C>A | CA2578531354 | EDN1 | c.*58C>A (n.*58C>A) | gnomAD v4 |
6 | g.12296125C= | CA1610831102 | EDN1 | c.*58C= (n.*58C=) | |
6 | g.12296125C>G | CA134218107 | EDN1 | c.*58C>G (n.*58C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12296127G>A | CA1610831106 | EDN1 | c.*60G>A (n.*60G>A) | dbSNP gnomAD v4 |
6 | g.12296127G= | CA1610831104 | EDN1 | c.*60G= (n.*60G=) |