| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.12292304G>A | CA3638605 | EDN1 | c.65-37G>A (n.65-37G>A) c.65-40G>A (n.65-40G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292304G= | CA1610843636 | EDN1 | c.65-37G= (n.65-37G=) c.65-40G= (n.65-40G=) | |
| 6 | g.12292304G>T | CA1610843639 | EDN1 | c.65-37G>T (n.65-37G>T) c.65-40G>T (n.65-40G>T) | dbSNP |
| 6 | g.12292306G>A | CA3638606 | EDN1 | c.65-35G>A (n.65-35G>A) c.65-38G>A (n.65-38G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292306G= | CA1610843643 | EDN1 | c.65-35G= (n.65-35G=) c.65-38G= (n.65-38G=) | |
| 6 | g.12292308C>A | CA2511776352 | EDN1 | c.65-33C>A (n.65-33C>A) c.65-36C>A (n.65-36C>A) | |
| 6 | g.12292309A= | CA1610843649 | EDN1 | c.65-32A= (n.65-32A=) c.65-35A= (n.65-35A=) | |
| 6 | g.12292309A>G | CA3638607 | EDN1 | c.65-32A>G (n.65-32A>G) c.65-35A>G (n.65-35A>G) | dbSNP ExAC gnomAD v2 |
| 6 | g.12292309A>T | CA1610843650 | EDN1 | c.65-32A>T (n.65-32A>T) c.65-35A>T (n.65-35A>T) | dbSNP gnomAD v4 |
| 6 | g.12292310T>A | CA1086090804 | EDN1 | c.65-31T>A (n.65-31T>A) c.65-34T>A (n.65-34T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12292310T>C | CA2677349981 | EDN1 | c.65-31T>C (n.65-31T>C) c.65-34T>C (n.65-34T>C) | gnomAD v4 |
| 6 | g.12292310T= | CA1610843651 | EDN1 | c.65-31T= (n.65-31T=) c.65-34T= (n.65-34T=) | |
| 6 | g.12292311C= | CA1610843652 | EDN1 | c.65-30C= (n.65-30C=) c.65-33C= (n.65-33C=) | |
| 6 | g.12292311C>T | CA565829447 | EDN1 | c.65-30C>T (n.65-30C>T) c.65-33C>T (n.65-33C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292312C>A | CA1610843657 | EDN1 | c.65-29C>A (n.65-29C>A) c.65-32C>A (n.65-32C>A) | dbSNP |
| 6 | g.12292312C= | CA1610843655 | EDN1 | c.65-29C= (n.65-29C=) c.65-32C= (n.65-32C=) | |
| 6 | g.12292312C>T | CA565829448 | EDN1 | c.65-29C>T (n.65-29C>T) c.65-32C>T (n.65-32C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292313C= | CA1610843661 | EDN1 | c.65-28C= (n.65-28C=) c.65-31C= (n.65-31C=) | |
| 6 | g.12292313C>G | CA1610843663 | EDN1 | c.65-28C>G (n.65-28C>G) c.65-31C>G (n.65-31C>G) | dbSNP gnomAD v4 |
| 6 | g.12292314C>A | CA3638608 | EDN1 | c.65-27C>A (n.65-27C>A) c.65-30C>A (n.65-30C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292314C= | CA1610843666 | EDN1 | c.65-27C= (n.65-27C=) c.65-30C= (n.65-30C=) | |
| 6 | g.12292314C>T | CA2677349982 | EDN1 | c.65-27C>T (n.65-27C>T) c.65-30C>T (n.65-30C>T) | gnomAD v4 |
| 6 | g.12292315C= | CA1610843667 | EDN1 | c.65-26C= (n.65-26C=) c.65-29C= (n.65-29C=) | |
| 6 | g.12292315C>T | CA565829449 | EDN1 | c.65-26C>T (n.65-26C>T) c.65-29C>T (n.65-29C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292316dup | CA1610843669 | EDN1 | c.65-25dup (n.65-25dup) c.65-28dup (n.65-28dup) | dbSNP |
| 6 | g.12292317C>T | CA2677349983 | EDN1 | c.65-24C>T (n.65-24C>T) c.65-27C>T (n.65-27C>T) | gnomAD v4 |
| 6 | g.12292321C= | CA1610843670 | EDN1 | c.65-20C= (n.65-20C=) c.65-23C= (n.65-23C=) | |
| 6 | g.12292321C>G | CA3638609 | EDN1 | c.65-20C>G (n.65-20C>G) c.65-23C>G (n.65-23C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292323T>C | CA3638610 | EDN1 | c.65-18T>C (n.65-18T>C) c.65-21T>C (n.65-21T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292323T= | CA1610843672 | EDN1 | c.65-18T= (n.65-18T=) c.65-21T= (n.65-21T=) | |
| 6 | g.12292326T>C | CA2677349984 | EDN1 | c.65-15T>C (n.65-15T>C) c.65-18T>C (n.65-18T>C) | gnomAD v4 |
| 6 | g.12292330T>C | CA1610843679 | EDN1 | c.65-11T>C (n.65-11T>C) c.65-14T>C (n.65-14T>C) | dbSNP |
| 6 | g.12292330T= | CA1610843676 | EDN1 | c.65-11T= (n.65-11T=) c.65-14T= (n.65-14T=) | |
| 6 | g.12292331C>T | CA2677349985 | EDN1 | c.65-10C>T (n.65-10C>T) c.65-13C>T (n.65-13C>T) | gnomAD v4 |
| 6 | g.12292332_12292335delinsTCTC | CA1610843680 | EDN1 | c.65-9_65-6delinsTCTC (n.65-9_65-6delinsTCTC) c.65-12_65-9delinsTCTC (n.65-12_65-9delinsTCTC) | |
| 6 | g.12292333C>G | CA2711046485 | EDN1 | c.65-8C>G (n.65-8C>G) c.65-11C>G (n.65-11C>G) | dbSNP |
| 6 | g.12292334_12292336del | CA1086090810 | EDN1 | c.65-7_65-5del (n.65-7_65-5del) c.65-10_65-8del (n.65-10_65-8del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12292336C= | CA1610843682 | EDN1 | c.65-5C= (n.65-5C=) c.65-8C= (n.65-8C=) | |
| 6 | g.12292336C>G | CA2770023738 | EDN1 | c.65-5C>G (n.65-5C>G) c.65-8C>G (n.65-8C>G) | |
| 6 | g.12292336C>T | CA1610843683 | EDN1 | c.65-5C>T (n.65-5C>T) c.65-8C>T (n.65-8C>T) | dbSNP |
| 6 | g.12292337C= | CA1610843686 | EDN1 | c.65-4C= (n.65-4C=) c.65-7C= (n.65-7C=) | |
| 6 | g.12292337C>G | CA1086090819 | EDN1 | c.65-4C>G (n.65-4C>G) c.65-7C>G (n.65-7C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12292337C>T | CA3638611 | EDN1 | c.65-4C>T (n.65-4C>T) c.65-7C>T (n.65-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292338C= | CA1610843689 | EDN1 | c.65-3C= (n.65-3C=) c.65-6C= (n.65-6C=) | |
| 6 | g.12292338C>T | CA565829450 | EDN1 | c.65-3C>T (n.65-3C>T) c.65-6C>T (n.65-6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292339A>C | CA362856144 | EDN1 | c.65-2A>C (n.65-2A>C) c.65-5A>C (n.65-5A>C) | |
| 6 | g.12292339A>G | CA362856143 | EDN1 | c.65-2A>G (n.65-2A>G) c.65-5A>G (n.65-5A>G) | |
| 6 | g.12292339A>T | CA362856142 | EDN1 | c.65-2A>T (n.65-2A>T) c.65-5A>T (n.65-5A>T) | gnomAD v4 |
| 6 | g.12292340G>A | CA362856145 | EDN1 | c.65-1G>A (n.65-1G>A) c.65-4G>A (n.65-4G>A) | |
| 6 | g.12292340G>C | CA362856147 | EDN1 | c.65-1G>C (n.65-1G>C) c.65-4G>C (n.65-4G>C) | |
| 6 | g.12292340G>T | CA362856146 | EDN1 | c.65-1G>T (n.65-1G>T) c.65-4G>T (n.65-4G>T) | |
| 6 | g.12292341C>A | CA3638612 | EDN1 | c.65C>A (p.Ala22Glu) c.65-3C>A (n.65-3C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292341C= | CA1610843691 | EDN1 | c.65C= (p.Ala22=) c.65-3C= (n.65-3C=) | |
| 6 | g.12292341C>G | CA362856149 | EDN1 | c.65C>G (p.Ala22Gly) c.65-3C>G (n.65-3C>G) | |
| 6 | g.12292341C>T | CA362856148 | EDN1 | c.65C>T (p.Ala22Val) c.65-3C>T (n.65-3C>T) | |
| 6 | g.12292342A>C | CA448427634 | EDN1 | c.66A>C (p.Ala22=) c.65-2A>C (n.65-2A>C) | |
| 6 | g.12292342A>G | CA448427633 | EDN1 | c.66A>G (p.Ala22=) c.65-2A>G (n.65-2A>G) | |
| 6 | g.12292342A>T | CA448427632 | EDN1 | c.66A>T (p.Ala22=) c.65-2A>T (n.65-2A>T) | |
| 6 | g.12292343G>A | CA134217328 | EDN1 | c.67G>A (p.Val23Ile) c.65-1G>A (n.65-1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292343G>C | CA362856150 | EDN1 | c.67G>C (p.Val23Leu) c.65-1G>C (n.65-1G>C) | |
| 6 | g.12292343G= | CA1610843695 | EDN1 | c.67G= (p.Val23=) c.65-1G= (n.65-1G=) | |
| 6 | g.12292343G>T | CA362856151 | EDN1 | c.67G>T (p.Val23Phe) c.65-1G>T (n.65-1G>T) | |
| 6 | g.12292344T>A | CA362856152 | EDN1 | c.68T>A (p.Val23Asp) c.65T>A (p.Val22Asp) | |
| 6 | g.12292344T>C | CA362856153 | EDN1 | c.68T>C (p.Val23Ala) c.65T>C (p.Val22Ala) | gnomAD v4 |
| 6 | g.12292344T>G | CA362856154 | EDN1 | c.68T>G (p.Val23Gly) c.65T>G (p.Val22Gly) | |
| 6 | g.12292345C>A | CA448427635 | EDN1 | c.69C>A (p.Val23=) c.66C>A (p.Val22=) | |
| 6 | g.12292345C>G | CA448427636 | EDN1 | c.69C>G (p.Val23=) c.66C>G (p.Val22=) | |
| 6 | g.12292345C>T | CA448427637 | EDN1 | c.69C>T (p.Val23=) c.66C>T (p.Val22=) | gnomAD v4 |
| 6 | g.12292346T>A | CA362856155 | EDN1 | c.70T>A (p.Leu24Ile) c.67T>A (p.Leu23Ile) | |
| 6 | g.12292346T>C | CA448427638 | EDN1 | c.70T>C (p.Leu24=) c.67T>C (p.Leu23=) | |
| 6 | g.12292346T>G | CA362856156 | EDN1 | c.70T>G (p.Leu24Val) c.67T>G (p.Leu23Val) | |
| 6 | g.12292347T>A | CA362856157 | EDN1 | c.71T>A (p.Leu24Ter) c.68T>A (p.Leu23Ter) | |
| 6 | g.12292347T>C | CA362856158 | EDN1 | c.71T>C (p.Leu24Ser) c.68T>C (p.Leu23Ser) | |
| 6 | g.12292347T>G | CA362856159 | EDN1 | c.71T>G (p.Leu24Ter) c.68T>G (p.Leu23Ter) | |
| 6 | g.12292348A>C | CA362856160 | EDN1 | c.72A>C (p.Leu24Phe) c.69A>C (p.Leu23Phe) | |
| 6 | g.12292348A>G | CA448427639 | EDN1 | c.72A>G (p.Leu24=) c.69A>G (p.Leu23=) | |
| 6 | g.12292348A>T | CA362856161 | EDN1 | c.72A>T (p.Leu24Phe) c.69A>T (p.Leu23Phe) | |
| 6 | g.12292348_12292349delinsAG | CA1610843697 | EDN1 | c.72_73delinsAG (p.Leu24=) c.69_70delinsAG (p.Leu23=) | |
| 6 | g.12292349G>A | CA362856162 | EDN1 | c.73G>A (p.Gly25Ser) c.70G>A (p.Gly24Ser) | |
| 6 | g.12292349G>C | CA362856164 | EDN1 | c.73G>C (p.Gly25Arg) c.70G>C (p.Gly24Arg) | |
| 6 | g.12292349G>T | CA362856163 | EDN1 | c.73G>T (p.Gly25Cys) c.70G>T (p.Gly24Cys) | |
| 6 | g.12292350del | CA134217330 | EDN1 | c.74del (p.Gly25AlafsTer?) c.71del (p.Gly24AlafsTer?) | dbSNP |
| 6 | g.12292350G>A | CA362856165 | EDN1 | c.74G>A (p.Gly25Asp) c.71G>A (p.Gly24Asp) | |
| 6 | g.12292350G>C | CA362856166 | EDN1 | c.74G>C (p.Gly25Ala) c.71G>C (p.Gly24Ala) | |
| 6 | g.12292350G= | CA1610843702 | EDN1 | c.74G= (p.Gly25=) c.71G= (p.Gly24=) | |
| 6 | g.12292350G>T | CA362856167 | EDN1 | c.74G>T (p.Gly25Val) c.71G>T (p.Gly24Val) | dbSNP |
| 6 | g.12292351C>A | CA448427640 | EDN1 | c.75C>A (p.Gly25=) c.72C>A (p.Gly24=) | |
| 6 | g.12292351C= | CA1610843705 | EDN1 | c.75C= (p.Gly25=) c.72C= (p.Gly24=) | |
| 6 | g.12292351C>G | CA448427641 | EDN1 | c.75C>G (p.Gly25=) c.72C>G (p.Gly24=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292351C>T | CA448427642 | EDN1 | c.75C>T (p.Gly25=) c.72C>T (p.Gly24=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292352G>A | CA362856168 | EDN1 | c.76G>A (p.Ala26Thr) c.73G>A (p.Ala25Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292352G>C | CA362856169 | EDN1 | c.76G>C (p.Ala26Pro) c.73G>C (p.Ala25Pro) | gnomAD v4 |
| 6 | g.12292352G= | CA1610843709 | EDN1 | c.76G= (p.Ala26=) c.73G= (p.Ala25=) | |
| 6 | g.12292352G>T | CA362856170 | EDN1 | c.76G>T (p.Ala26Ser) c.73G>T (p.Ala25Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292353C>A | CA362856171 | EDN1 | c.77C>A (p.Ala26Asp) c.74C>A (p.Ala25Asp) | |
| 6 | g.12292353C>G | CA362856172 | EDN1 | c.77C>G (p.Ala26Gly) c.74C>G (p.Ala25Gly) | |
| 6 | g.12292353C>T | CA362856173 | EDN1 | c.77C>T (p.Ala26Val) c.74C>T (p.Ala25Val) | |
| 6 | g.12292354T>A | CA448427643 | EDN1 | c.78T>A (p.Ala26=) c.75T>A (p.Ala25=) | |
| 6 | g.12292354T>C | CA448427644 | EDN1 | c.78T>C (p.Ala26=) c.75T>C (p.Ala25=) | |
| 6 | g.12292354T>G | CA3638613 | EDN1 | c.78T>G (p.Ala26=) c.75T>G (p.Ala25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292354T= | CA1610843715 | EDN1 | c.78T= (p.Ala26=) c.75T= (p.Ala25=) | |
| 6 | g.12292355G>A | CA3638614 | EDN1 | c.79G>A (p.Glu27Lys) c.76G>A (p.Glu26Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292355G>C | CA362856174 | EDN1 | c.79G>C (p.Glu27Gln) c.76G>C (p.Glu26Gln) | |
| 6 | g.12292355G= | CA1610843718 | EDN1 | c.79G= (p.Glu27=) c.76G= (p.Glu26=) | |
| 6 | g.12292355G>T | CA362856175 | EDN1 | c.79G>T (p.Glu27Ter) c.76G>T (p.Glu26Ter) | |
| 6 | g.12292356A>C | CA362856176 | EDN1 | c.80A>C (p.Glu27Ala) c.77A>C (p.Glu26Ala) | |
| 6 | g.12292356A>G | CA362856177 | EDN1 | c.80A>G (p.Glu27Gly) c.77A>G (p.Glu26Gly) | |
| 6 | g.12292356A>T | CA362856178 | EDN1 | c.80A>T (p.Glu27Val) c.77A>T (p.Glu26Val) | |
| 6 | g.12292357G>A | CA448427645 | EDN1 | c.81G>A (p.Glu27=) c.78G>A (p.Glu26=) | |
| 6 | g.12292357G>C | CA362856179 | EDN1 | c.81G>C (p.Glu27Asp) c.78G>C (p.Glu26Asp) | dbSNP gnomAD v4 |
| 6 | g.12292357G= | CA1610843730 | EDN1 | c.81G= (p.Glu27=) c.78G= (p.Glu26=) | |
| 6 | g.12292357G>T | CA362856180 | EDN1 | c.81G>T (p.Glu27Asp) c.78G>T (p.Glu26Asp) | |
| 6 | g.12292358C>A | CA3638615 | EDN1 | c.82C>A (p.Leu28Ile) c.79C>A (p.Leu27Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292358C= | CA1610843733 | EDN1 | c.82C= (p.Leu28=) c.79C= (p.Leu27=) | |
| 6 | g.12292358C>G | CA362856181 | EDN1 | c.82C>G (p.Leu28Val) c.79C>G (p.Leu27Val) | |
| 6 | g.12292358C>T | CA362856182 | EDN1 | c.82C>T (p.Leu28Phe) c.79C>T (p.Leu27Phe) | |
| 6 | g.12292359T>A | CA362856183 | EDN1 | c.83T>A (p.Leu28His) c.80T>A (p.Leu27His) | |
| 6 | g.12292359T>C | CA362856184 | EDN1 | c.83T>C (p.Leu28Pro) c.80T>C (p.Leu27Pro) | |
| 6 | g.12292359T>G | CA362856185 | EDN1 | c.83T>G (p.Leu28Arg) c.80T>G (p.Leu27Arg) | gnomAD v4 |
| 6 | g.12292360C>A | CA448427648 | EDN1 | c.84C>A (p.Leu28=) c.81C>A (p.Leu27=) | |
| 6 | g.12292360C>G | CA448427647 | EDN1 | c.84C>G (p.Leu28=) c.81C>G (p.Leu27=) | |
| 6 | g.12292360C>T | CA448427646 | EDN1 | c.84C>T (p.Leu28=) c.81C>T (p.Leu27=) | |
| 6 | g.12292361A= | CA1610843735 | EDN1 | c.85A= (p.Ser29=) c.82A= (p.Ser28=) | |
| 6 | g.12292361A>C | CA362856188 | EDN1 | c.85A>C (p.Ser29Arg) c.82A>C (p.Ser28Arg) | dbSNP gnomAD v4 |
| 6 | g.12292361A>G | CA362856186 | EDN1 | c.85A>G (p.Ser29Gly) c.82A>G (p.Ser28Gly) | |
| 6 | g.12292361A>T | CA362856187 | EDN1 | c.85A>T (p.Ser29Cys) c.82A>T (p.Ser28Cys) | |
| 6 | g.12292362G>A | CA362856189 | EDN1 | c.86G>A (p.Ser29Asn) c.83G>A (p.Ser28Asn) | dbSNP |
| 6 | g.12292362G>C | CA362856190 | EDN1 | c.86G>C (p.Ser29Thr) c.83G>C (p.Ser28Thr) | |
| 6 | g.12292362G= | CA1610843738 | EDN1 | c.86G= (p.Ser29=) c.83G= (p.Ser28=) | |
| 6 | g.12292362G>T | CA362856191 | EDN1 | c.86G>T (p.Ser29Ile) c.83G>T (p.Ser28Ile) | |
| 6 | g.12292363C>A | CA362856192 | EDN1 | c.87C>A (p.Ser29Arg) c.84C>A (p.Ser28Arg) | |
| 6 | g.12292363C= | CA1610843741 | EDN1 | c.87C= (p.Ser29=) c.84C= (p.Ser28=) | |
| 6 | g.12292363C>G | CA3638616 | EDN1 | c.87C>G (p.Ser29Arg) c.84C>G (p.Ser28Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292363C>T | CA3638617 | EDN1 | c.87C>T (p.Ser29=) c.84C>T (p.Ser28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292364G>A | CA362856193 | EDN1 | c.88G>A (p.Ala30Thr) c.85G>A (p.Ala29Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292364G>C | CA362856194 | EDN1 | c.88G>C (p.Ala30Pro) c.85G>C (p.Ala29Pro) | |
| 6 | g.12292364G= | CA1610843746 | EDN1 | c.88G= (p.Ala30=) c.85G= (p.Ala29=) | |
| 6 | g.12292364G>T | CA362856195 | EDN1 | c.88G>T (p.Ala30Ser) c.85G>T (p.Ala29Ser) | |
| 6 | g.12292365C>A | CA3638618 | EDN1 | c.89C>A (p.Ala30Glu) c.86C>A (p.Ala29Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292365C= | CA1610843750 | EDN1 | c.89C= (p.Ala30=) c.86C= (p.Ala29=) | |
| 6 | g.12292365C>G | CA362856196 | EDN1 | c.89C>G (p.Ala30Gly) c.86C>G (p.Ala29Gly) | |
| 6 | g.12292365C>T | CA134217336 | EDN1 | c.89C>T (p.Ala30Val) c.86C>T (p.Ala29Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292366G>A | CA3638619 | EDN1 | c.90G>A (p.Ala30=) c.87G>A (p.Ala29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292366G>C | CA448427649 | EDN1 | c.90G>C (p.Ala30=) c.87G>C (p.Ala29=) | |
| 6 | g.12292366G= | CA1610843756 | EDN1 | c.90G= (p.Ala30=) c.87G= (p.Ala29=) | |
| 6 | g.12292366G>T | CA3638620 | EDN1 | c.90G>T (p.Ala30=) c.87G>T (p.Ala29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292367dup | CA2578531287 | EDN1 | c.91dup (p.Val31GlyfsTer3) c.88dup (p.Val30GlyfsTer3) | |
| 6 | g.12292367G>A | CA362856197 | EDN1 | c.91G>A (p.Val31Met) c.88G>A (p.Val30Met) | |
| 6 | g.12292367G>C | CA362856198 | EDN1 | c.91G>C (p.Val31Leu) c.88G>C (p.Val30Leu) | |
| 6 | g.12292367G>T | CA362856199 | EDN1 | c.91G>T (p.Val31Leu) c.88G>T (p.Val30Leu) | |
| 6 | g.12292368T>A | CA362856200 | EDN1 | c.92T>A (p.Val31Glu) c.89T>A (p.Val30Glu) | |
| 6 | g.12292368T>C | CA362856201 | EDN1 | c.92T>C (p.Val31Ala) c.89T>C (p.Val30Ala) | dbSNP |
| 6 | g.12292368T>G | CA362856202 | EDN1 | c.92T>G (p.Val31Gly) c.89T>G (p.Val30Gly) | |
| 6 | g.12292369G>A | CA448427650 | EDN1 | c.93G>A (p.Val31=) c.90G>A (p.Val30=) | gnomAD v4 |
| 6 | g.12292369G>C | CA448427651 | EDN1 | c.93G>C (p.Val31=) c.90G>C (p.Val30=) | |
| 6 | g.12292369G>T | CA448427652 | EDN1 | c.93G>T (p.Val31=) c.90G>T (p.Val30=) | |
| 6 | g.12292370G>A | CA3638621 | EDN1 | c.94G>A (p.Gly32Ser) c.91G>A (p.Gly31Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292370G>C | CA362856204 | EDN1 | c.94G>C (p.Gly32Arg) c.91G>C (p.Gly31Arg) | |
| 6 | g.12292370G= | CA1610843765 | EDN1 | c.94G= (p.Gly32=) c.91G= (p.Gly31=) | |
| 6 | g.12292370G>T | CA362856203 | EDN1 | c.94G>T (p.Gly32Cys) c.91G>T (p.Gly31Cys) | |
| 6 | g.12292372_12292383del | CA2582343059 | EDN1 | c.96_107del (p.Glu33_Gly36del) c.93_104del (p.Glu32_Gly35del) | |
| 6 | g.12292371G>A | CA362856205 | EDN1 | c.95G>A (p.Gly32Asp) c.92G>A (p.Gly31Asp) | |
| 6 | g.12292371G>C | CA362856206 | EDN1 | c.95G>C (p.Gly32Ala) c.92G>C (p.Gly31Ala) | |
| 6 | g.12292371G>T | CA362856207 | EDN1 | c.95G>T (p.Gly32Val) c.92G>T (p.Gly31Val) | |
| 6 | g.12292372T>A | CA448427653 | EDN1 | c.96T>A (p.Gly32=) c.93T>A (p.Gly31=) | |
| 6 | g.12292372T>C | CA448427654 | EDN1 | c.96T>C (p.Gly32=) c.93T>C (p.Gly31=) | |
| 6 | g.12292372T>G | CA448427655 | EDN1 | c.96T>G (p.Gly32=) c.93T>G (p.Gly31=) | |
| 6 | g.12292373G>A | CA362856208 | EDN1 | c.97G>A (p.Glu33Lys) c.94G>A (p.Glu32Lys) | |
| 6 | g.12292373G>C | CA362856209 | EDN1 | c.97G>C (p.Glu33Gln) c.94G>C (p.Glu32Gln) | |
| 6 | g.12292373G>T | CA362856210 | EDN1 | c.97G>T (p.Glu33Ter) c.94G>T (p.Glu32Ter) | |
| 6 | g.12292374A= | CA1610843770 | EDN1 | c.98A= (p.Glu33=) c.95A= (p.Glu32=) | |
| 6 | g.12292374A>C | CA362856213 | EDN1 | c.98A>C (p.Glu33Ala) c.95A>C (p.Glu32Ala) | |
| 6 | g.12292374A>G | CA362856211 | EDN1 | c.98A>G (p.Glu33Gly) c.95A>G (p.Glu32Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12292374A>T | CA362856212 | EDN1 | c.98A>T (p.Glu33Val) c.95A>T (p.Glu32Val) | |
| 6 | g.12292375G>A | CA448427656 | EDN1 | c.99G>A (p.Glu33=) c.96G>A (p.Glu32=) | |
| 6 | g.12292375G>C | CA362856214 | EDN1 | c.99G>C (p.Glu33Asp) c.96G>C (p.Glu32Asp) | |
| 6 | g.12292375G>T | CA362856215 | EDN1 | c.99G>T (p.Glu33Asp) c.96G>T (p.Glu32Asp) | |
| 6 | g.12292376A>C | CA362856216 | EDN1 | c.100A>C (p.Asn34His) c.97A>C (p.Asn33His) | |
| 6 | g.12292376A>G | CA362856217 | EDN1 | c.100A>G (p.Asn34Asp) c.97A>G (p.Asn33Asp) | dbSNP |
| 6 | g.12292376A>T | CA362856218 | EDN1 | c.100A>T (p.Asn34Tyr) c.97A>T (p.Asn33Tyr) | |
| 6 | g.12292377A>C | CA362856219 | EDN1 | c.101A>C (p.Asn34Thr) c.98A>C (p.Asn33Thr) | |
| 6 | g.12292377A>G | CA362856220 | EDN1 | c.101A>G (p.Asn34Ser) c.98A>G (p.Asn33Ser) | |
| 6 | g.12292377A>T | CA362856221 | EDN1 | c.101A>T (p.Asn34Ile) c.98A>T (p.Asn33Ile) | |
| 6 | g.12292378C>A | CA362856222 | EDN1 | c.102C>A (p.Asn34Lys) c.99C>A (p.Asn33Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292378C= | CA1610843779 | EDN1 | c.102C= (p.Asn34=) c.99C= (p.Asn33=) | |
| 6 | g.12292378C>G | CA362856223 | EDN1 | c.102C>G (p.Asn34Lys) c.99C>G (p.Asn33Lys) | |
| 6 | g.12292378C>T | CA448427657 | EDN1 | c.102C>T (p.Asn34=) c.99C>T (p.Asn33=) | gnomAD v4 |
| 6 | g.12292378dup | CA2677349986 | EDN1 | c.102dup (p.Gly35ArgfsTer27) c.99dup (p.Gly34ArgfsTer27) | gnomAD v4 |
| 6 | g.12292379G>A | CA3638622 | EDN1 | c.103G>A (p.Gly35Ser) c.100G>A (p.Gly34Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292379G>C | CA3638623 | EDN1 | c.103G>C (p.Gly35Arg) c.100G>C (p.Gly34Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292379G= | CA1610843782 | EDN1 | c.103G= (p.Gly35=) c.100G= (p.Gly34=) | |
| 6 | g.12292379G>T | CA362856224 | EDN1 | c.103G>T (p.Gly35Cys) c.100G>T (p.Gly34Cys) | |
| 6 | g.12292380G>A | CA362856225 | EDN1 | c.104G>A (p.Gly35Asp) c.101G>A (p.Gly34Asp) | gnomAD v4 |
| 6 | g.12292380G>C | CA362856227 | EDN1 | c.104G>C (p.Gly35Ala) c.101G>C (p.Gly34Ala) | |
| 6 | g.12292380G>T | CA362856226 | EDN1 | c.104G>T (p.Gly35Val) c.101G>T (p.Gly34Val) | |
| 6 | g.12292381C>A | CA448427658 | EDN1 | c.105C>A (p.Gly35=) c.102C>A (p.Gly34=) | |
| 6 | g.12292381C= | CA1610843785 | EDN1 | c.105C= (p.Gly35=) c.102C= (p.Gly34=) | |
| 6 | g.12292381C>G | CA448427659 | EDN1 | c.105C>G (p.Gly35=) c.102C>G (p.Gly34=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292381C>T | CA448427660 | EDN1 | c.105C>T (p.Gly35=) c.102C>T (p.Gly34=) | dbSNP gnomAD v4 |
| 6 | g.12292382G>A | CA3638624 | EDN1 | c.106G>A (p.Gly36Arg) c.103G>A (p.Gly35Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292382G>C | CA3638625 | EDN1 | c.106G>C (p.Gly36Arg) c.103G>C (p.Gly35Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292382G= | CA1610843793 | EDN1 | c.106G= (p.Gly36=) c.103G= (p.Gly35=) | |
| 6 | g.12292382G>T | CA362856228 | EDN1 | c.106G>T (p.Gly36Trp) c.103G>T (p.Gly35Trp) | gnomAD v4 |
| 6 | g.12292385dup | CA1610843791 | EDN1 | c.109dup (p.Glu37GlyfsTer25) c.106dup (p.Glu36GlyfsTer25) | dbSNP |
| 6 | g.12292383G>A | CA362856229 | EDN1 | c.107G>A (p.Gly36Glu) c.104G>A (p.Gly35Glu) | |
| 6 | g.12292383G>C | CA362856230 | EDN1 | c.107G>C (p.Gly36Ala) c.104G>C (p.Gly35Ala) | |
| 6 | g.12292383G>T | CA362856231 | EDN1 | c.107G>T (p.Gly36Val) c.104G>T (p.Gly35Val) | |
| 6 | g.12292384G>A | CA448427663 | EDN1 | c.108G>A (p.Gly36=) c.105G>A (p.Gly35=) | dbSNP |
| 6 | g.12292384G>C | CA448427661 | EDN1 | c.108G>C (p.Gly36=) c.105G>C (p.Gly35=) | |
| 6 | g.12292384G= | CA1610843800 | EDN1 | c.108G= (p.Gly36=) c.105G= (p.Gly35=) | |
| 6 | g.12292384G>T | CA448427662 | EDN1 | c.108G>T (p.Gly36=) c.105G>T (p.Gly35=) | |
| 6 | g.12292385G>A | CA362856234 | EDN1 | c.109G>A (p.Glu37Lys) c.106G>A (p.Glu36Lys) | |
| 6 | g.12292385G>C | CA362856232 | EDN1 | c.109G>C (p.Glu37Gln) c.106G>C (p.Glu36Gln) | |
| 6 | g.12292385G>T | CA362856233 | EDN1 | c.109G>T (p.Glu37Ter) c.106G>T (p.Glu36Ter) | |
| 6 | g.12292386A= | CA1610843803 | EDN1 | c.110A= (p.Glu37=) c.107A= (p.Glu36=) | |
| 6 | g.12292386A>C | CA362856235 | EDN1 | c.110A>C (p.Glu37Ala) c.107A>C (p.Glu36Ala) | |
| 6 | g.12292386A>G | CA3638626 | EDN1 | c.110A>G (p.Glu37Gly) c.107A>G (p.Glu36Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292386A>T | CA362856236 | EDN1 | c.110A>T (p.Glu37Val) c.107A>T (p.Glu36Val) | |
| 6 | g.12292387G>A | CA448427664 | EDN1 | c.111G>A (p.Glu37=) c.108G>A (p.Glu36=) | |
| 6 | g.12292387G>C | CA362856237 | EDN1 | c.111G>C (p.Glu37Asp) c.108G>C (p.Glu36Asp) | |
| 6 | g.12292387G>T | CA362856238 | EDN1 | c.111G>T (p.Glu37Asp) c.108G>T (p.Glu36Asp) | |
| 6 | g.12292388A= | CA1610843806 | EDN1 | c.112A= (p.Lys38=) c.109A= (p.Lys37=) | |
| 6 | g.12292388A>C | CA362856239 | EDN1 | c.112A>C (p.Lys38Gln) c.109A>C (p.Lys37Gln) | |
| 6 | g.12292388A>G | CA3638627 | EDN1 | c.112A>G (p.Lys38Glu) c.109A>G (p.Lys37Glu) | dbSNP ExAC gnomAD v2 |
| 6 | g.12292388A>T | CA362856240 | EDN1 | c.112A>T (p.Lys38Ter) c.109A>T (p.Lys37Ter) | |
| 6 | g.12292389A>C | CA362856241 | EDN1 | c.113A>C (p.Lys38Thr) c.110A>C (p.Lys37Thr) | |
| 6 | g.12292389A>G | CA362856242 | EDN1 | c.113A>G (p.Lys38Arg) c.110A>G (p.Lys37Arg) | |
| 6 | g.12292389A>T | CA362856243 | EDN1 | c.113A>T (p.Lys38Ile) c.110A>T (p.Lys37Ile) | gnomAD v4 |
| 6 | g.12292390A= | CA1610843810 | EDN1 | c.114A= (p.Lys38=) c.111A= (p.Lys37=) | |
| 6 | g.12292390A>C | CA362856244 | EDN1 | c.114A>C (p.Lys38Asn) c.111A>C (p.Lys37Asn) | dbSNP |
| 6 | g.12292390A>G | CA448427665 | EDN1 | c.114A>G (p.Lys38=) c.111A>G (p.Lys37=) | |
| 6 | g.12292390A>T | CA362856245 | EDN1 | c.114A>T (p.Lys38Asn) c.111A>T (p.Lys37Asn) | |
| 6 | g.12292391C>A | CA3638628 | EDN1 | c.115C>A (p.Pro39Thr) c.112C>A (p.Pro38Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292391C= | CA1610843816 | EDN1 | c.115C= (p.Pro39=) c.112C= (p.Pro38=) | |
| 6 | g.12292391C>G | CA362856246 | EDN1 | c.115C>G (p.Pro39Ala) c.112C>G (p.Pro38Ala) | |
| 6 | g.12292391C>T | CA362856247 | EDN1 | c.115C>T (p.Pro39Ser) c.112C>T (p.Pro38Ser) | |
| 6 | g.12292392C>A | CA362856248 | EDN1 | c.116C>A (p.Pro39His) c.113C>A (p.Pro38His) | |
| 6 | g.12292392C>G | CA362856249 | EDN1 | c.116C>G (p.Pro39Arg) c.113C>G (p.Pro38Arg) | |
| 6 | g.12292392C>T | CA362856250 | EDN1 | c.116C>T (p.Pro39Leu) c.113C>T (p.Pro38Leu) | |
| 6 | g.12292393C>A | CA448427666 | EDN1 | c.117C>A (p.Pro39=) c.114C>A (p.Pro38=) | |
| 6 | g.12292393C>G | CA448427667 | EDN1 | c.117C>G (p.Pro39=) c.114C>G (p.Pro38=) | |
| 6 | g.12292393C>T | CA448427668 | EDN1 | c.117C>T (p.Pro39=) c.114C>T (p.Pro38=) | |
| 6 | g.12292394A= | CA1610843823 | EDN1 | c.118A= (p.Thr40=) c.115A= (p.Thr39=) | |
| 6 | g.12292394A>C | CA362856251 | EDN1 | c.118A>C (p.Thr40Pro) c.115A>C (p.Thr39Pro) | |
| 6 | g.12292394A>G | CA362856253 | EDN1 | c.118A>G (p.Thr40Ala) c.115A>G (p.Thr39Ala) | dbSNP gnomAD v4 |
| 6 | g.12292394A>T | CA362856252 | EDN1 | c.118A>T (p.Thr40Ser) c.115A>T (p.Thr39Ser) | |
| 6 | g.12292394_12292395insAC | CA2770023739 | EDN1 | c.118_119insAC (p.Thr40AsnfsTer20) c.115_116insAC (p.Thr39AsnfsTer20) | |
| 6 | g.12292395C>A | CA3638630 | EDN1 | c.119C>A (p.Thr40Asn) c.116C>A (p.Thr39Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292395C= | CA1610843824 | EDN1 | c.119C= (p.Thr40=) c.116C= (p.Thr39=) | |
| 6 | g.12292395C>G | CA3638631 | EDN1 | c.119C>G (p.Thr40Ser) c.116C>G (p.Thr39Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292395C>T | CA3638629 | EDN1 | c.119C>T (p.Thr40Ile) c.116C>T (p.Thr39Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292396T>A | CA448427669 | EDN1 | c.120T>A (p.Thr40=) c.117T>A (p.Thr39=) | |
| 6 | g.12292396T>C | CA448427670 | EDN1 | c.120T>C (p.Thr40=) c.117T>C (p.Thr39=) | |
| 6 | g.12292396T>G | CA448427671 | EDN1 | c.120T>G (p.Thr40=) c.117T>G (p.Thr39=) | |
| 6 | g.12292397C>A | CA362856254 | EDN1 | c.121C>A (p.Pro41Thr) c.118C>A (p.Pro40Thr) | |
| 6 | g.12292397C= | CA1610843829 | EDN1 | c.121C= (p.Pro41=) c.118C= (p.Pro40=) | |
| 6 | g.12292397C>G | CA362856255 | EDN1 | c.121C>G (p.Pro41Ala) c.118C>G (p.Pro40Ala) | |
| 6 | g.12292397C>T | CA134217349 | EDN1 | c.121C>T (p.Pro41Ser) c.118C>T (p.Pro40Ser) | dbSNP |
| 6 | g.12292398C>A | CA362856256 | EDN1 | c.122C>A (p.Pro41His) c.119C>A (p.Pro40His) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292398C= | CA1610843833 | EDN1 | c.122C= (p.Pro41=) c.119C= (p.Pro40=) | |
| 6 | g.12292398C>G | CA362856257 | EDN1 | c.122C>G (p.Pro41Arg) c.119C>G (p.Pro40Arg) | |
| 6 | g.12292398C>T | CA362856258 | EDN1 | c.122C>T (p.Pro41Leu) c.119C>T (p.Pro40Leu) | |
| 6 | g.12292399C>A | CA448427672 | EDN1 | c.123C>A (p.Pro41=) c.120C>A (p.Pro40=) | |
| 6 | g.12292399C= | CA1610843834 | EDN1 | c.123C= (p.Pro41=) c.120C= (p.Pro40=) | |
| 6 | g.12292399C>G | CA448427673 | EDN1 | c.123C>G (p.Pro41=) c.120C>G (p.Pro40=) | dbSNP gnomAD v4 |
| 6 | g.12292399C>T | CA134217351 | EDN1 | c.123C>T (p.Pro41=) c.120C>T (p.Pro40=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12292400A= | CA1610843836 | EDN1 | c.124A= (p.Ser42=) c.121A= (p.Ser41=) | |
| 6 | g.12292400A>C | CA134217353 | EDN1 | c.124A>C (p.Ser42Arg) c.121A>C (p.Ser41Arg) | dbSNP |
| 6 | g.12292400A>G | CA362856259 | EDN1 | c.124A>G (p.Ser42Gly) c.121A>G (p.Ser41Gly) | COSMIC |
| 6 | g.12292400A>T | CA3638632 | EDN1 | c.124A>T (p.Ser42Cys) c.121A>T (p.Ser41Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292401G>A | CA362856262 | EDN1 | c.125G>A (p.Ser42Asn) c.122G>A (p.Ser41Asn) | |
| 6 | g.12292401G>C | CA362856261 | EDN1 | c.125G>C (p.Ser42Thr) c.122G>C (p.Ser41Thr) | |
| 6 | g.12292401G>T | CA362856260 | EDN1 | c.125G>T (p.Ser42Ile) c.122G>T (p.Ser41Ile) | COSMIC |
| 6 | g.12292402T>A | CA362856263 | EDN1 | c.126T>A (p.Ser42Arg) c.123T>A (p.Ser41Arg) | dbSNP |
| 6 | g.12292402T>C | CA448427674 | EDN1 | c.126T>C (p.Ser42=) c.123T>C (p.Ser41=) | |
| 6 | g.12292402T>G | CA362856264 | EDN1 | c.126T>G (p.Ser42Arg) c.123T>G (p.Ser41Arg) | gnomAD v4 |
| 6 | g.12292402T= | CA1610843839 | EDN1 | c.126T= (p.Ser42=) c.123T= (p.Ser41=) | |
| 6 | g.12292403C>A | CA362856265 | EDN1 | c.127C>A (p.Pro43Thr) c.124C>A (p.Pro42Thr) | |
| 6 | g.12292403C>G | CA362856266 | EDN1 | c.127C>G (p.Pro43Ala) c.124C>G (p.Pro42Ala) | |
| 6 | g.12292403C>T | CA362856267 | EDN1 | c.127C>T (p.Pro43Ser) c.124C>T (p.Pro42Ser) | |
| 6 | g.12292403_12292404insACACCCAACA | CA2770023740 | EDN1 | c.127_128insACACCCAACA (p.Pro43HisfsTer22) c.124_125insACACCCAACA (p.Pro42HisfsTer22) | |
| 6 | g.12292404C>A | CA362856268 | EDN1 | c.128C>A (p.Pro43Gln) c.125C>A (p.Pro42Gln) | |
| 6 | g.12292404C= | CA1610843840 | EDN1 | c.128C= (p.Pro43=) c.125C= (p.Pro42=) | |
| 6 | g.12292404C>G | CA362856269 | EDN1 | c.128C>G (p.Pro43Arg) c.125C>G (p.Pro42Arg) | |
| 6 | g.12292404C>T | CA362856270 | EDN1 | c.128C>T (p.Pro43Leu) c.125C>T (p.Pro42Leu) | dbSNP |