| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.64604727A>C | CA371334081 | CYP7B1 | c.1188T>G (p.Phe396Leu) n.462T>G c.1254T>G (p.Phe418Leu) | |
| 8 | g.64604727A>G | CA461118220 | CYP7B1 | c.1188T>C (p.Phe396=) n.462T>C c.1254T>C (p.Phe418=) | ClinVar gnomAD v4 |
| 8 | g.64604727A>T | CA371334082 | CYP7B1 | c.1188T>A (p.Phe396Leu) n.462T>A c.1254T>A (p.Phe418Leu) | |
| 8 | g.64604728A>C | CA371334083 | CYP7B1 | c.1187T>G (p.Phe396Cys) n.461T>G c.1253T>G (p.Phe418Cys) | |
| 8 | g.64604728A>G | CA371334085 | CYP7B1 | c.1187T>C (p.Phe396Ser) n.461T>C c.1253T>C (p.Phe418Ser) | |
| 8 | g.64604728A>T | CA371334084 | CYP7B1 | c.1187T>A (p.Phe396Tyr) n.461T>A c.1253T>A (p.Phe418Tyr) | |
| 8 | g.64604729A>C | CA371334086 | CYP7B1 | c.1186T>G (p.Phe396Val) n.460T>G c.1252T>G (p.Phe418Val) | |
| 8 | g.64604729A>G | CA371334088 | CYP7B1 | c.1186T>C (p.Phe396Leu) n.460T>C c.1252T>C (p.Phe418Leu) | |
| 8 | g.64604729A>T | CA371334087 | CYP7B1 | c.1186T>A (p.Phe396Ile) n.460T>A c.1252T>A (p.Phe418Ile) | |
| 8 | g.64604730G>A | CA461118224 | CYP7B1 | c.1185C>T (p.Ile395=) n.459C>T c.1251C>T (p.Ile417=) | |
| 8 | g.64604730G>C | CA371334089 | CYP7B1 | c.1185C>G (p.Ile395Met) n.459C>G c.1251C>G (p.Ile417Met) | gnomAD v4 |
| 8 | g.64604730G>T | CA461118225 | CYP7B1 | c.1185C>A (p.Ile395=) n.459C>A c.1251C>A (p.Ile417=) | COSMIC |
| 8 | g.64604731A>C | CA371334090 | CYP7B1 | c.1184T>G (p.Ile395Ser) n.458T>G c.1250T>G (p.Ile417Ser) | gnomAD v4 |
| 8 | g.64604731A>G | CA371334091 | CYP7B1 | c.1184T>C (p.Ile395Thr) n.458T>C c.1250T>C (p.Ile417Thr) | |
| 8 | g.64604731A>T | CA371334092 | CYP7B1 | c.1184T>A (p.Ile395Asn) n.458T>A c.1250T>A (p.Ile417Asn) | gnomAD v4 |
| 8 | g.64604732T>A | CA371334093 | CYP7B1 | c.1183A>T (p.Ile395Phe) n.457A>T c.1249A>T (p.Ile417Phe) | |
| 8 | g.64604732T>C | CA371334094 | CYP7B1 | c.1183A>G (p.Ile395Val) n.457A>G c.1249A>G (p.Ile417Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604732T>G | CA371334095 | CYP7B1 | c.1183A>C (p.Ile395Leu) n.457A>C c.1249A>C (p.Ile417Leu) | |
| 8 | g.64604732T= | CA1789659693 | CYP7B1 | c.1183A= (p.Ile395=) n.457A= c.1249A= (p.Ile417=) | |
| 8 | g.64604733G>A | CA461118228 | CYP7B1 | c.1182C>T (p.Ala394=) n.456C>T c.1248C>T (p.Ala416=) | |
| 8 | g.64604733G>C | CA461118229 | CYP7B1 | c.1182C>G (p.Ala394=) n.456C>G c.1248C>G (p.Ala416=) | |
| 8 | g.64604733G>T | CA461118230 | CYP7B1 | c.1182C>A (p.Ala394=) n.456C>A c.1248C>A (p.Ala416=) | |
| 8 | g.64604734G>A | CA371334096 | CYP7B1 | c.1181C>T (p.Ala394Val) n.455C>T c.1247C>T (p.Ala416Val) | dbSNP |
| 8 | g.64604734G>C | CA371334097 | CYP7B1 | c.1181C>G (p.Ala394Gly) n.455C>G c.1247C>G (p.Ala416Gly) | |
| 8 | g.64604734G= | CA1789659694 | CYP7B1 | c.1181C= (p.Ala394=) n.455C= c.1247C= (p.Ala416=) | |
| 8 | g.64604734G>T | CA371334098 | CYP7B1 | c.1181C>A (p.Ala394Asp) n.455C>A c.1247C>A (p.Ala416Asp) | dbSNP |
| 8 | g.64604735C>A | CA371334099 | CYP7B1 | c.1180G>T (p.Ala394Ser) n.454G>T c.1246G>T (p.Ala416Ser) | |
| 8 | g.64604735C= | CA1789659695 | CYP7B1 | c.1180G= (p.Ala394=) n.454G= c.1246G= (p.Ala416=) | |
| 8 | g.64604735C>G | CA371334100 | CYP7B1 | c.1180G>C (p.Ala394Pro) n.454G>C c.1246G>C (p.Ala416Pro) | |
| 8 | g.64604735C>T | CA4764037 | CYP7B1 | c.1180G>A (p.Ala394Thr) n.454G>A c.1246G>A (p.Ala416Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604736T>A | CA461118231 | CYP7B1 | c.1179A>T (p.Val393=) n.453A>T c.1245A>T (p.Val415=) | |
| 8 | g.64604736T>C | CA461118232 | CYP7B1 | c.1179A>G (p.Val393=) n.453A>G c.1245A>G (p.Val415=) | |
| 8 | g.64604736T>G | CA461118233 | CYP7B1 | c.1179A>C (p.Val393=) n.453A>C c.1245A>C (p.Val415=) | |
| 8 | g.64604737A>C | CA371334101 | CYP7B1 | c.1178T>G (p.Val393Gly) n.452T>G c.1244T>G (p.Val415Gly) | |
| 8 | g.64604737A>G | CA371334103 | CYP7B1 | c.1178T>C (p.Val393Ala) n.452T>C c.1244T>C (p.Val415Ala) | |
| 8 | g.64604737A>T | CA371334102 | CYP7B1 | c.1178T>A (p.Val393Glu) n.452T>A c.1244T>A (p.Val415Glu) | |
| 8 | g.64604738C>A | CA371334104 | CYP7B1 | c.1177G>T (p.Val393Leu) n.451G>T c.1243G>T (p.Val415Leu) | |
| 8 | g.64604738C>G | CA371334105 | CYP7B1 | c.1177G>C (p.Val393Leu) n.451G>C c.1243G>C (p.Val415Leu) | |
| 8 | g.64604738C>T | CA371334106 | CYP7B1 | c.1177G>A (p.Val393Ile) n.451G>A c.1243G>A (p.Val415Ile) | |
| 8 | g.64604739C>A | CA371334107 | CYP7B1 | c.1176G>T (p.Leu392Phe) n.450G>T c.1242G>T (p.Leu414Phe) | |
| 8 | g.64604739C>G | CA371334108 | CYP7B1 | c.1176G>C (p.Leu392Phe) n.450G>C c.1242G>C (p.Leu414Phe) | |
| 8 | g.64604739C>T | CA461118236 | CYP7B1 | c.1176G>A (p.Leu392=) n.450G>A c.1242G>A (p.Leu414=) | |
| 8 | g.64604740A>C | CA371334109 | CYP7B1 | c.1175T>G (p.Leu392Trp) n.449T>G c.1241T>G (p.Leu414Trp) | |
| 8 | g.64604740A>G | CA371334110 | CYP7B1 | c.1175T>C (p.Leu392Ser) n.449T>C c.1241T>C (p.Leu414Ser) | |
| 8 | g.64604740A>T | CA371334111 | CYP7B1 | c.1175T>A (p.Leu392Ter) n.449T>A c.1241T>A (p.Leu414Ter) | |
| 8 | g.64604741A>C | CA371334112 | CYP7B1 | c.1174T>G (p.Leu392Val) n.448T>G c.1240T>G (p.Leu414Val) | |
| 8 | g.64604741A>G | CA461118238 | CYP7B1 | c.1174T>C (p.Leu392=) n.448T>C c.1240T>C (p.Leu414=) | |
| 8 | g.64604741A>T | CA371334113 | CYP7B1 | c.1174T>A (p.Leu392Met) n.448T>A c.1240T>A (p.Leu414Met) | |
| 8 | g.64604742_64604743insGTAG | CA2687453876 | CYP7B1 | c.1174_1175insACCT (p.Leu392TyrfsTer13) n.448_449insACCT c.1240_1241insACCT (p.Leu414TyrfsTer13) | gnomAD v4 |
| 8 | g.64604742G>A | CA461118239 | CYP7B1 | c.1173C>T (p.Asp391=) n.447C>T c.1239C>T (p.Asp413=) |