| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142876241del | CA2695201530 | CYP11B1,GML | c.954+1del n.988del c.1167+1del c.181+35016del (n.181+35016del) c.1032+1del c.771+1del c.214+35016del (n.214+35016del) | ClinVar |
| 8 | g.142876241C>A | CA4905243 | CYP11B1,GML | c.954G>T (p.Thr318=) n.987G>T c.1167G>T (p.Thr389=) c.181+35016C>A (n.181+35016C>A) c.1032G>T (p.Thr344=) c.771G>T (p.Thr257=) c.214+35016C>A (n.214+35016C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.142876241C= | CA1825496910 | CYP11B1,GML | c.954G= (p.Thr318=) n.987G= c.1167G= (p.Thr389=) c.181+35016C= (n.181+35016C=) c.1032G= (p.Thr344=) c.771G= (p.Thr257=) c.214+35016C= (n.214+35016C=) | |
| 8 | g.142876241C>G | CA463327588 | CYP11B1,GML | c.954G>C (p.Thr318=) n.987G>C c.1167G>C (p.Thr389=) c.181+35016C>G (n.181+35016C>G) c.1032G>C (p.Thr344=) c.771G>C (p.Thr257=) c.214+35016C>G (n.214+35016C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142876241C>T | CA463327589 | CYP11B1,GML | c.954G>A (p.Thr318=) n.987G>A c.1167G>A (p.Thr389=) c.181+35016C>T (n.181+35016C>T) c.1032G>A (p.Thr344=) c.771G>A (p.Thr257=) c.214+35016C>T (n.214+35016C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.142876242G>A | CA339876 | CYP11B1,GML | c.953C>T (p.Thr318Met) n.986C>T c.1166C>T (p.Thr389Met) c.181+35017G>A (n.181+35017G>A) c.1031C>T (p.Thr344Met) c.770C>T (p.Thr257Met) c.214+35017G>A (n.214+35017G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.142876242G>C | CA372395017 | CYP11B1,GML | c.953C>G (p.Thr318Arg) n.986C>G c.1166C>G (p.Thr389Arg) c.181+35017G>C (n.181+35017G>C) c.1031C>G (p.Thr344Arg) c.770C>G (p.Thr257Arg) c.214+35017G>C (n.214+35017G>C) | ClinVar dbSNP gnomAD v4 |
| 8 | g.142876242G= | CA1825496911 | CYP11B1,GML | c.953C= (p.Thr318=) n.986C= c.1166C= (p.Thr389=) c.181+35017G= (n.181+35017G=) c.1031C= (p.Thr344=) c.770C= (p.Thr257=) c.214+35017G= (n.214+35017G=) | |
| 8 | g.142876242G>T | CA372395018 | CYP11B1,GML | c.953C>A (p.Thr318Lys) n.986C>A c.1166C>A (p.Thr389Lys) c.181+35017G>T (n.181+35017G>T) c.1031C>A (p.Thr344Lys) c.770C>A (p.Thr257Lys) c.214+35017G>T (n.214+35017G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142876243T>A | CA372395026 | CYP11B1,GML | c.952A>T (p.Thr318Ser) n.985A>T c.1165A>T (p.Thr389Ser) c.181+35018T>A (n.181+35018T>A) c.1030A>T (p.Thr344Ser) c.769A>T (p.Thr257Ser) c.214+35018T>A (n.214+35018T>A) | |
| 8 | g.142876243T>C | CA372395025 | CYP11B1,GML | c.952A>G (p.Thr318Ala) n.985A>G c.1165A>G (p.Thr389Ala) c.181+35018T>C (n.181+35018T>C) c.1030A>G (p.Thr344Ala) c.769A>G (p.Thr257Ala) c.214+35018T>C (n.214+35018T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.142876243T>G | CA372395022 | CYP11B1,GML | c.952A>C (p.Thr318Pro) n.985A>C c.1165A>C (p.Thr389Pro) c.181+35018T>G (n.181+35018T>G) c.1030A>C (p.Thr344Pro) c.769A>C (p.Thr257Pro) c.214+35018T>G (n.214+35018T>G) | dbSNP |
| 8 | g.142876243T= | CA1825496912 | CYP11B1,GML | c.952A= (p.Thr318=) n.985A= c.1165A= (p.Thr389=) c.181+35018T= (n.181+35018T=) c.1030A= (p.Thr344=) c.769A= (p.Thr257=) c.214+35018T= (n.214+35018T=) | |
| 8 | g.142876244G>A | CA463327590 | CYP11B1,GML | c.951C>T (p.Asp317=) n.984C>T c.1164C>T (p.Asp388=) c.181+35019G>A (n.181+35019G>A) c.1029C>T (p.Asp343=) c.768C>T (p.Asp256=) c.214+35019G>A (n.214+35019G>A) | COSMIC |
| 8 | g.142876244G>C | CA372395028 | CYP11B1,GML | c.951C>G (p.Asp317Glu) n.984C>G c.1164C>G (p.Asp388Glu) c.181+35019G>C (n.181+35019G>C) c.1029C>G (p.Asp343Glu) c.768C>G (p.Asp256Glu) c.214+35019G>C (n.214+35019G>C) | gnomAD v4 |
| 8 | g.142876244G>T | CA372395027 | CYP11B1,GML | c.951C>A (p.Asp317Glu) n.984C>A c.1164C>A (p.Asp388Glu) c.181+35019G>T (n.181+35019G>T) c.1029C>A (p.Asp343Glu) c.768C>A (p.Asp256Glu) c.214+35019G>T (n.214+35019G>T) | gnomAD v4 |
| 8 | g.142876245T>A | CA372395032 | CYP11B1,GML | c.950A>T (p.Asp317Val) n.983A>T c.1163A>T (p.Asp388Val) c.181+35020T>A (n.181+35020T>A) c.1028A>T (p.Asp343Val) c.767A>T (p.Asp256Val) c.214+35020T>A (n.214+35020T>A) | |
| 8 | g.142876245T>C | CA372395029 | CYP11B1,GML | c.950A>G (p.Asp317Gly) n.983A>G c.1163A>G (p.Asp388Gly) c.181+35020T>C (n.181+35020T>C) c.1028A>G (p.Asp343Gly) c.767A>G (p.Asp256Gly) c.214+35020T>C (n.214+35020T>C) | |
| 8 | g.142876245T>G | CA372395030 | CYP11B1,GML | c.950A>C (p.Asp317Ala) n.983A>C c.1163A>C (p.Asp388Ala) c.181+35020T>G (n.181+35020T>G) c.1028A>C (p.Asp343Ala) c.767A>C (p.Asp256Ala) c.214+35020T>G (n.214+35020T>G) | |
| 8 | g.142876246C>A | CA372395034 | CYP11B1,GML | c.949G>T (p.Asp317Tyr) n.982G>T c.1162G>T (p.Asp388Tyr) c.181+35021C>A (n.181+35021C>A) c.1027G>T (p.Asp343Tyr) c.766G>T (p.Asp256Tyr) c.214+35021C>A (n.214+35021C>A) | |
| 8 | g.142876246C>G | CA372395036 | CYP11B1,GML | c.949G>C (p.Asp317His) n.982G>C c.1162G>C (p.Asp388His) c.181+35021C>G (n.181+35021C>G) c.1027G>C (p.Asp343His) c.766G>C (p.Asp256His) c.214+35021C>G (n.214+35021C>G) | COSMIC |
| 8 | g.142876246C>T | CA372395038 | CYP11B1,GML | c.949G>A (p.Asp317Asn) n.982G>A c.1162G>A (p.Asp388Asn) c.181+35021C>T (n.181+35021C>T) c.1027G>A (p.Asp343Asn) c.766G>A (p.Asp256Asn) c.214+35021C>T (n.214+35021C>T) | |
| 8 | g.142876247C>A | CA463327591 | CYP11B1,GML | c.948G>T (p.Val316=) n.981G>T c.1161G>T (p.Val387=) c.181+35022C>A (n.181+35022C>A) c.1026G>T (p.Val342=) c.765G>T (p.Val255=) c.214+35022C>A (n.214+35022C>A) | |
| 8 | g.142876247C= | CA1825496913 | CYP11B1,GML | c.948G= (p.Val316=) n.981G= c.1161G= (p.Val387=) c.181+35022C= (n.181+35022C=) c.1026G= (p.Val342=) c.765G= (p.Val255=) c.214+35022C= (n.214+35022C=) | |
| 8 | g.142876247C>G | CA4905244 | CYP11B1,GML | c.948G>C (p.Val316=) n.981G>C c.1161G>C (p.Val387=) c.181+35022C>G (n.181+35022C>G) c.1026G>C (p.Val342=) c.765G>C (p.Val255=) c.214+35022C>G (n.214+35022C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.142876247C>T | CA463327592 | CYP11B1,GML | c.948G>A (p.Val316=) n.981G>A c.1161G>A (p.Val387=) c.181+35022C>T (n.181+35022C>T) c.1026G>A (p.Val342=) c.765G>A (p.Val255=) c.214+35022C>T (n.214+35022C>T) | |
| 8 | g.142876248A>C | CA372395041 | CYP11B1,GML | c.947T>G (p.Val316Gly) n.980T>G c.1160T>G (p.Val387Gly) c.181+35023A>C (n.181+35023A>C) c.1025T>G (p.Val342Gly) c.764T>G (p.Val255Gly) c.214+35023A>C (n.214+35023A>C) | |
| 8 | g.142876248A>G | CA372395043 | CYP11B1,GML | c.947T>C (p.Val316Ala) n.980T>C c.1160T>C (p.Val387Ala) c.181+35023A>G (n.181+35023A>G) c.1025T>C (p.Val342Ala) c.764T>C (p.Val255Ala) c.214+35023A>G (n.214+35023A>G) | |
| 8 | g.142876248A>T | CA372395045 | CYP11B1,GML | c.947T>A (p.Val316Glu) n.980T>A c.1160T>A (p.Val387Glu) c.181+35023A>T (n.181+35023A>T) c.1025T>A (p.Val342Glu) c.764T>A (p.Val255Glu) c.214+35023A>T (n.214+35023A>T) | |
| 8 | g.142876248dup | CA2580078650 | CYP11B1,GML | c.947dup (p.Asp317GlyfsTer13) n.980dup c.1160dup (p.Asp388GlyfsTer13) c.181+35023dup (n.181+35023dup) c.1025dup (p.Asp343GlyfsTer13) c.764dup (p.Asp256GlyfsTer13) c.214+35023dup (n.214+35023dup) | ClinVar |
| 8 | g.142876249C>A | CA372395048 | CYP11B1,GML | c.946G>T (p.Val316Leu) n.979G>T c.1159G>T (p.Val387Leu) c.181+35024C>A (n.181+35024C>A) c.1024G>T (p.Val342Leu) c.763G>T (p.Val255Leu) c.214+35024C>A (n.214+35024C>A) | |
| 8 | g.142876249C= | CA1825496914 | CYP11B1,GML | c.946G= (p.Val316=) n.979G= c.1159G= (p.Val387=) c.181+35024C= (n.181+35024C=) c.1024G= (p.Val342=) c.763G= (p.Val255=) c.214+35024C= (n.214+35024C=) | |
| 8 | g.142876249C>G | CA372395050 | CYP11B1,GML | c.946G>C (p.Val316Leu) n.979G>C c.1159G>C (p.Val387Leu) c.181+35024C>G (n.181+35024C>G) c.1024G>C (p.Val342Leu) c.763G>C (p.Val255Leu) c.214+35024C>G (n.214+35024C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.142876249C>T | CA4905245 | CYP11B1,GML | c.946G>A (p.Val316Met) n.979G>A c.1159G>A (p.Val387Met) c.181+35024C>T (n.181+35024C>T) c.1024G>A (p.Val342Met) c.763G>A (p.Val255Met) c.214+35024C>T (n.214+35024C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142876250G>A | CA4905246 | CYP11B1,GML | c.945C>T (p.Ser315=) n.978C>T c.1158C>T (p.Ser386=) c.181+35025G>A (n.181+35025G>A) c.1023C>T (p.Ser341=) c.762C>T (p.Ser254=) c.214+35025G>A (n.214+35025G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.142876250G>C | CA372395052 | CYP11B1,GML | c.945C>G (p.Ser315Arg) n.978C>G c.1158C>G (p.Ser386Arg) c.181+35025G>C (n.181+35025G>C) c.1023C>G (p.Ser341Arg) c.762C>G (p.Ser254Arg) c.214+35025G>C (n.214+35025G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.142876250G= | CA1825496915 | CYP11B1,GML | c.945C= (p.Ser315=) n.978C= c.1158C= (p.Ser386=) c.181+35025G= (n.181+35025G=) c.1023C= (p.Ser341=) c.762C= (p.Ser254=) c.214+35025G= (n.214+35025G=) | |
| 8 | g.142876250G>T | CA372395053 | CYP11B1,GML | c.945C>A (p.Ser315Arg) n.978C>A c.1158C>A (p.Ser386Arg) c.181+35025G>T (n.181+35025G>T) c.1023C>A (p.Ser341Arg) c.762C>A (p.Ser254Arg) c.214+35025G>T (n.214+35025G>T) | dbSNP gnomAD v2 |
| 8 | g.142876251C>A | CA372395059 | CYP11B1,GML | c.944G>T (p.Ser315Ile) n.977G>T c.1157G>T (p.Ser386Ile) c.181+35026C>A (n.181+35026C>A) c.1022G>T (p.Ser341Ile) c.761G>T (p.Ser254Ile) c.214+35026C>A (n.214+35026C>A) | |
| 8 | g.142876251C>G | CA372395060 | CYP11B1,GML | c.944G>C (p.Ser315Thr) n.977G>C c.1157G>C (p.Ser386Thr) c.181+35026C>G (n.181+35026C>G) c.1022G>C (p.Ser341Thr) c.761G>C (p.Ser254Thr) c.214+35026C>G (n.214+35026C>G) | |
| 8 | g.142876251C>T | CA372395061 | CYP11B1,GML | c.944G>A (p.Ser315Asn) n.977G>A c.1157G>A (p.Ser386Asn) c.181+35026C>T (n.181+35026C>T) c.1022G>A (p.Ser341Asn) c.761G>A (p.Ser254Asn) c.214+35026C>T (n.214+35026C>T) | |
| 8 | g.142876252T>A | CA372395062 | CYP11B1,GML | c.943A>T (p.Ser315Cys) n.976A>T c.1156A>T (p.Ser386Cys) c.181+35027T>A (n.181+35027T>A) c.1021A>T (p.Ser341Cys) c.760A>T (p.Ser254Cys) c.214+35027T>A (n.214+35027T>A) | |
| 8 | g.142876252T>C | CA372395064 | CYP11B1,GML | c.943A>G (p.Ser315Gly) n.976A>G c.1156A>G (p.Ser386Gly) c.181+35027T>C (n.181+35027T>C) c.1021A>G (p.Ser341Gly) c.760A>G (p.Ser254Gly) c.214+35027T>C (n.214+35027T>C) | |
| 8 | g.142876252T>G | CA372395065 | CYP11B1,GML | c.943A>C (p.Ser315Arg) n.976A>C c.1156A>C (p.Ser386Arg) c.181+35027T>G (n.181+35027T>G) c.1021A>C (p.Ser341Arg) c.760A>C (p.Ser254Arg) c.214+35027T>G (n.214+35027T>G) | |
| 8 | g.142876253C>A | CA463327593 | CYP11B1,GML | c.942G>T (p.Gly314=) n.975G>T c.1155G>T (p.Gly385=) c.181+35028C>A (n.181+35028C>A) c.1020G>T (p.Gly340=) c.759G>T (p.Gly253=) c.214+35028C>A (n.214+35028C>A) | |
| 8 | g.142876253C= | CA1825496916 | CYP11B1,GML | c.942G= (p.Gly314=) n.975G= c.1155G= (p.Gly385=) c.181+35028C= (n.181+35028C=) c.1020G= (p.Gly340=) c.759G= (p.Gly253=) c.214+35028C= (n.214+35028C=) | |
| 8 | g.142876253C>G | CA463327594 | CYP11B1,GML | c.942G>C (p.Gly314=) n.975G>C c.1155G>C (p.Gly385=) c.181+35028C>G (n.181+35028C>G) c.1020G>C (p.Gly340=) c.759G>C (p.Gly253=) c.214+35028C>G (n.214+35028C>G) | |
| 8 | g.142876253C>T | CA463327595 | CYP11B1,GML | c.942G>A (p.Gly314=) n.975G>A c.1155G>A (p.Gly385=) c.181+35028C>T (n.181+35028C>T) c.1020G>A (p.Gly340=) c.759G>A (p.Gly253=) c.214+35028C>T (n.214+35028C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.142876254C>A | CA372395066 | CYP11B1,GML | c.941G>T (p.Gly314Val) n.974G>T c.1154G>T (p.Gly385Val) c.181+35029C>A (n.181+35029C>A) c.1019G>T (p.Gly340Val) c.758G>T (p.Gly253Val) c.214+35029C>A (n.214+35029C>A) | |
| 8 | g.142876254C>G | CA372395067 | CYP11B1,GML | c.941G>C (p.Gly314Ala) n.974G>C c.1154G>C (p.Gly385Ala) c.181+35029C>G (n.181+35029C>G) c.1019G>C (p.Gly340Ala) c.758G>C (p.Gly253Ala) c.214+35029C>G (n.214+35029C>G) |