| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.64604827G>A | CA210940 | CYP7B1 | c.1088C>T (p.Ser363Phe) n.362C>T c.1154C>T (p.Ser385Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.64604827G>C | CA371334296 | CYP7B1 | c.1088C>G (p.Ser363Cys) n.362C>G c.1154C>G (p.Ser385Cys) | |
| 8 | g.64604827G= | CA1789659735 | CYP7B1 | c.1088C= (p.Ser363=) n.362C= c.1154C= (p.Ser385=) | |
| 8 | g.64604827G>T | CA371334297 | CYP7B1 | c.1088C>A (p.Ser363Tyr) n.362C>A c.1154C>A (p.Ser385Tyr) | |
| 8 | g.64604828A>C | CA371334298 | CYP7B1 | c.1087T>G (p.Ser363Ala) n.361T>G c.1153T>G (p.Ser385Ala) | |
| 8 | g.64604828A>G | CA371334299 | CYP7B1 | c.1087T>C (p.Ser363Pro) n.361T>C c.1153T>C (p.Ser385Pro) | |
| 8 | g.64604828A>T | CA371334300 | CYP7B1 | c.1087T>A (p.Ser363Thr) n.361T>A c.1153T>A (p.Ser385Thr) | |
| 8 | g.64604829C>A | CA461118309 | CYP7B1 | c.1086G>T (p.Leu362=) n.360G>T c.1152G>T (p.Leu384=) | |
| 8 | g.64604829C= | CA1789659736 | CYP7B1 | c.1086G= (p.Leu362=) n.360G= c.1152G= (p.Leu384=) | |
| 8 | g.64604829C>G | CA461118310 | CYP7B1 | c.1086G>C (p.Leu362=) n.360G>C c.1152G>C (p.Leu384=) | gnomAD v4 |
| 8 | g.64604829C>T | CA4764050 | CYP7B1 | c.1086G>A (p.Leu362=) n.360G>A c.1152G>A (p.Leu384=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604830A= | CA1789659737 | CYP7B1 | c.1085T= (p.Leu362=) n.359T= c.1151T= (p.Leu384=) | |
| 8 | g.64604830A>C | CA371334301 | CYP7B1 | c.1085T>G (p.Leu362Arg) n.359T>G c.1151T>G (p.Leu384Arg) | |
| 8 | g.64604830A>G | CA371334302 | CYP7B1 | c.1085T>C (p.Leu362Pro) n.359T>C c.1151T>C (p.Leu384Pro) | ClinVar dbSNP |
| 8 | g.64604830A>T | CA371334303 | CYP7B1 | c.1085T>A (p.Leu362Gln) n.359T>A c.1151T>A (p.Leu384Gln) | gnomAD v4 |
| 8 | g.64604831G>A | CA461118311 | CYP7B1 | c.1084C>T (p.Leu362=) n.358C>T c.1150C>T (p.Leu384=) | gnomAD v4 |
| 8 | g.64604831G>C | CA371334304 | CYP7B1 | c.1084C>G (p.Leu362Val) n.358C>G c.1150C>G (p.Leu384Val) | |
| 8 | g.64604831G>T | CA371334305 | CYP7B1 | c.1084C>A (p.Leu362Met) n.358C>A c.1150C>A (p.Leu384Met) | |
| 8 | g.64604832T>A | CA461118314 | CYP7B1 | c.1083A>T (p.Arg361=) n.357A>T c.1149A>T (p.Arg383=) | |
| 8 | g.64604832T>C | CA461118315 | CYP7B1 | c.1083A>G (p.Arg361=) n.357A>G c.1149A>G (p.Arg383=) | gnomAD v4 |
| 8 | g.64604832T>G | CA461118312 | CYP7B1 | c.1083A>C (p.Arg361=) n.357A>C c.1149A>C (p.Arg383=) | |
| 8 | g.64604833C>A | CA371334307 | CYP7B1 | c.1082G>T (p.Arg361Leu) n.356G>T c.1148G>T (p.Arg383Leu) | gnomAD v4 |
| 8 | g.64604833C= | CA1789659738 | CYP7B1 | c.1082G= (p.Arg361=) n.356G= c.1148G= (p.Arg383=) | |
| 8 | g.64604833C>G | CA371334306 | CYP7B1 | c.1082G>C (p.Arg361Pro) n.356G>C c.1148G>C (p.Arg383Pro) | |
| 8 | g.64604833C>T | CA4764051 | CYP7B1 | c.1082G>A (p.Arg361Gln) n.356G>A c.1148G>A (p.Arg383Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.64604834G>A | CA4764052 | CYP7B1 | c.1081C>T (p.Arg361Ter) n.355C>T c.1147C>T (p.Arg383Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604834G>C | CA371334308 | CYP7B1 | c.1081C>G (p.Arg361Gly) n.355C>G c.1147C>G (p.Arg383Gly) | |
| 8 | g.64604834G= | CA1789659739 | CYP7B1 | c.1081C= (p.Arg361=) n.355C= c.1147C= (p.Arg383=) | |
| 8 | g.64604834G>T | CA4764053 | CYP7B1 | c.1081C>A (p.Arg361=) n.355C>A c.1147C>A (p.Arg383=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604835T>A | CA371334309 | CYP7B1 | c.1080A>T (p.Leu360Phe) n.354A>T c.1146A>T (p.Leu382Phe) | gnomAD v4 |
| 8 | g.64604835T>C | CA461118317 | CYP7B1 | c.1080A>G (p.Leu360=) n.354A>G c.1146A>G (p.Leu382=) | ClinVar dbSNP |
| 8 | g.64604835T>G | CA371334310 | CYP7B1 | c.1080A>C (p.Leu360Phe) n.354A>C c.1146A>C (p.Leu382Phe) | |
| 8 | g.64604835_64604836delinsTA | CA1789659740 | CYP7B1 | c.1079_1080delinsTA (p.Leu360=) n.353_354delinsTA c.1145_1146delinsTA (p.Leu382=) | |
| 8 | g.64604836A= | CA1789659741 | CYP7B1 | c.1079T= (p.Leu360=) n.353T= c.1145T= (p.Leu382=) | |
| 8 | g.64604836A>C | CA371334311 | CYP7B1 | c.1079T>G (p.Leu360Ter) n.353T>G c.1145T>G (p.Leu382Ter) | |
| 8 | g.64604836A>G | CA371334312 | CYP7B1 | c.1079T>C (p.Leu360Ser) n.353T>C c.1145T>C (p.Leu382Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604836A>T | CA371334313 | CYP7B1 | c.1079T>A (p.Leu360Ter) n.353T>A c.1145T>A (p.Leu382Ter) | |
| 8 | g.64604838del | CA4764054 | CYP7B1 | c.1079del (p.Leu360TyrfsTer17) n.353del c.1145del (p.Leu382TyrfsTer17) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64604837A>C | CA371334314 | CYP7B1 | c.1078T>G (p.Leu360Val) n.352T>G c.1144T>G (p.Leu382Val) | |
| 8 | g.64604837A>G | CA461118318 | CYP7B1 | c.1078T>C (p.Leu360=) n.352T>C c.1144T>C (p.Leu382=) | |
| 8 | g.64604837A>T | CA371334315 | CYP7B1 | c.1078T>A (p.Leu360Ile) n.352T>A c.1144T>A (p.Leu382Ile) | |
| 8 | g.64604838A= | CA1789659742 | CYP7B1 | c.1077T= (p.Ala359=) n.351T= c.1143T= (p.Ala381=) | |
| 8 | g.64604838A>C | CA4764055 | CYP7B1 | c.1077T>G (p.Ala359=) n.351T>G c.1143T>G (p.Ala381=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64604838A>G | CA461118319 | CYP7B1 | c.1077T>C (p.Ala359=) n.351T>C c.1143T>C (p.Ala381=) | gnomAD v4 |
| 8 | g.64604838A>T | CA461118320 | CYP7B1 | c.1077T>A (p.Ala359=) n.351T>A c.1143T>A (p.Ala381=) | |
| 8 | g.64604838_64604839delinsAG | CA1789659743 | CYP7B1 | c.1076_1077delinsCT (p.Ala359=) n.350_351delinsCT c.1142_1143delinsCT (p.Ala381=) | |
| 8 | g.64604839del | CA1789659744 | CYP7B1 | c.1076del (p.Ala359ValfsTer18) n.350del c.1142del (p.Ala381ValfsTer18) | dbSNP |
| 8 | g.64604839G>A | CA371334318 | CYP7B1 | c.1076C>T (p.Ala359Val) n.350C>T c.1142C>T (p.Ala381Val) | dbSNP |
| 8 | g.64604839G>C | CA371334317 | CYP7B1 | c.1076C>G (p.Ala359Gly) n.350C>G c.1142C>G (p.Ala381Gly) | gnomAD v4 |
| 8 | g.64604839G= | CA1789659745 | CYP7B1 | c.1076C= (p.Ala359=) n.350C= c.1142C= (p.Ala381=) |