UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.64624400del | CA2687454847 | CYP7B1 | c.259+4del (n.259+4del) c.325+4del (n.325+4del) | gnomAD v4 |
| 8 | g.64624400T>A | CA2687454848 | CYP7B1 | c.259+3A>T (n.259+3A>T) c.325+3A>T (n.325+3A>T) | gnomAD v4 |
| 8 | g.64624400T>C | CA2687454849 | CYP7B1 | c.259+3A>G (n.259+3A>G) c.325+3A>G (n.325+3A>G) | gnomAD v4 |
| 8 | g.64624401A= | CA1789667991 | CYP7B1 | c.259+2T= (n.259+2T=) c.325+2T= (n.325+2T=) | |
| 8 | g.64624401A>C | CA371338140 | CYP7B1 | c.259+2T>G (n.259+2T>G) c.325+2T>G (n.325+2T>G) | |
| 8 | g.64624401A>G | CA4764264 | CYP7B1 | c.259+2T>C (n.259+2T>C) c.325+2T>C (n.325+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64624401A>T | CA371338144 | CYP7B1 | c.259+2T>A (n.259+2T>A) c.325+2T>A (n.325+2T>A) | |
| 8 | g.64624402C>A | CA371338146 | CYP7B1 | c.259+1G>T (n.259+1G>T) c.325+1G>T (n.325+1G>T) | |
| 8 | g.64624402C>G | CA371338149 | CYP7B1 | c.259+1G>C (n.259+1G>C) c.325+1G>C (n.325+1G>C) | gnomAD v4 |
| 8 | g.64624402C>T | CA371338150 | CYP7B1 | c.259+1G>A (n.259+1G>A) c.325+1G>A (n.325+1G>A) | gnomAD v2 COSMIC |
| 8 | g.64624403del | CA2537046316 | CYP7B1 | c.259+1del c.325+1del | |
| 8 | g.64624403C>A | CA371338157 | CYP7B1 | c.259G>T (p.Gly87Ter) c.325G>T (p.Gly109Ter) | |
| 8 | g.64624403C>G | CA371338155 | CYP7B1 | c.259G>C (p.Gly87Arg) c.325G>C (p.Gly109Arg) | |
| 8 | g.64624403C>T | CA371338154 | CYP7B1 | c.259G>A (p.Gly87Arg) c.325G>A (p.Gly109Arg) | |
| 8 | g.64624404A>C | CA461120734 | CYP7B1 | c.258T>G (p.Gly86=) c.324T>G (p.Gly108=) | |
| 8 | g.64624404A>G | CA461120736 | CYP7B1 | c.258T>C (p.Gly86=) c.324T>C (p.Gly108=) | |
| 8 | g.64624404A>T | CA461120737 | CYP7B1 | c.258T>A (p.Gly86=) c.324T>A (p.Gly108=) | |
| 8 | g.64624405C>A | CA371338163 | CYP7B1 | c.257G>T (p.Gly86Val) c.323G>T (p.Gly108Val) | |
| 8 | g.64624405C>G | CA371338161 | CYP7B1 | c.257G>C (p.Gly86Ala) c.323G>C (p.Gly108Ala) | |
| 8 | g.64624405C>T | CA371338165 | CYP7B1 | c.257G>A (p.Gly86Asp) c.323G>A (p.Gly108Asp) | |
| 8 | g.64624405_64624406del | CA915640149 | CYP7B1 | c.256_257del (p.Gly86TrpfsTer21) c.322_323del (p.Gly108TrpfsTer21) | gnomAD v2 |
| 8 | g.64624406C>A | CA371338169 | CYP7B1 | c.256G>T (p.Gly86Cys) c.322G>T (p.Gly108Cys) | gnomAD v4 |
| 8 | g.64624406C= | CA1789667992 | CYP7B1 | c.256G= (p.Gly86=) c.322G= (p.Gly108=) | |
| 8 | g.64624406C>G | CA371338171 | CYP7B1 | c.256G>C (p.Gly86Arg) c.322G>C (p.Gly108Arg) | |
| 8 | g.64624406C>T | CA371338174 | CYP7B1 | c.256G>A (p.Gly86Ser) c.322G>A (p.Gly108Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64624406_64624409delinsCAAG | CA1789667993 | CYP7B1 | c.253_256delinsCTTG (p.Leu85=) c.319_322delinsCTTG (p.Leu107=) | |
| 8 | g.64624407A>C | CA461120751 | CYP7B1 | c.255T>G (p.Leu85=) c.321T>G (p.Leu107=) | |
| 8 | g.64624407A>G | CA461120749 | CYP7B1 | c.255T>C (p.Leu85=) c.321T>C (p.Leu107=) | |
| 8 | g.64624407A>T | CA461120747 | CYP7B1 | c.255T>A (p.Leu85=) c.321T>A (p.Leu107=) | |
| 8 | g.64624412_64624414del | CA582409093 | CYP7B1 | c.253_255del (p.Leu85del) c.319_321del (p.Leu107del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624408A>C | CA371338176 | CYP7B1 | c.254T>G (p.Leu85Arg) c.320T>G (p.Leu107Arg) | |
| 8 | g.64624408A>G | CA371338179 | CYP7B1 | c.254T>C (p.Leu85Pro) c.320T>C (p.Leu107Pro) | gnomAD v4 COSMIC |
| 8 | g.64624408A>T | CA371338181 | CYP7B1 | c.254T>A (p.Leu85His) c.320T>A (p.Leu107His) | |
| 8 | g.64624409G>A | CA371338188 | CYP7B1 | c.253C>T (p.Leu85Phe) c.319C>T (p.Leu107Phe) | gnomAD v4 |
| 8 | g.64624409G>C | CA371338186 | CYP7B1 | c.253C>G (p.Leu85Val) c.319C>G (p.Leu107Val) | |
| 8 | g.64624409G>T | CA371338184 | CYP7B1 | c.253C>A (p.Leu85Ile) c.319C>A (p.Leu107Ile) | |
| 8 | g.64624410A>C | CA461120760 | CYP7B1 | c.252T>G (p.Leu84=) c.318T>G (p.Leu106=) | |
| 8 | g.64624410A>G | CA461120762 | CYP7B1 | c.252T>C (p.Leu84=) c.318T>C (p.Leu106=) | |
| 8 | g.64624410A>T | CA461120764 | CYP7B1 | c.252T>A (p.Leu84=) c.318T>A (p.Leu106=) | |
| 8 | g.64624411A= | CA1789667994 | CYP7B1 | c.251T= (p.Leu84=) c.317T= (p.Leu106=) | |
| 8 | g.64624411A>C | CA178391930 | CYP7B1 | c.251T>G (p.Leu84Arg) c.317T>G (p.Leu106Arg) | ClinVar dbSNP |
| 8 | g.64624411A>G | CA371338191 | CYP7B1 | c.251T>C (p.Leu84Pro) c.317T>C (p.Leu106Pro) | |
| 8 | g.64624411A>T | CA371338194 | CYP7B1 | c.251T>A (p.Leu84His) c.317T>A (p.Leu106His) | |
| 8 | g.64624411_64624412delinsAG | CA1789667995 | CYP7B1 | c.250_251delinsCT (p.Leu84=) c.316_317delinsCT (p.Leu106=) | |
| 8 | g.64624412del | CA582409094 | CYP7B1 | c.250del (p.Leu84PhefsTer7) c.316del (p.Leu106PhefsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64624412G>A | CA4764265 | CYP7B1 | c.250C>T (p.Leu84Phe) c.316C>T (p.Leu106Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624412G>C | CA371338201 | CYP7B1 | c.250C>G (p.Leu84Val) c.316C>G (p.Leu106Val) | |
| 8 | g.64624412G= | CA1789667996 | CYP7B1 | c.250C= (p.Leu84=) c.316C= (p.Leu106=) | |
| 8 | g.64624412G>T | CA371338203 | CYP7B1 | c.250C>A (p.Leu84Ile) c.316C>A (p.Leu106Ile) | COSMIC |
| 8 | g.64624413A>C | CA461120774 | CYP7B1 | c.249T>G (p.Val83=) c.315T>G (p.Val105=) | |
| 8 | g.64624413A>G | CA461120777 | CYP7B1 | c.249T>C (p.Val83=) c.315T>C (p.Val105=) | |
| 8 | g.64624413A>T | CA461120776 | CYP7B1 | c.249T>A (p.Val83=) c.315T>A (p.Val105=) | |
| 8 | g.64624414A= | CA1789667997 | CYP7B1 | c.248T= (p.Val83=) c.314T= (p.Val105=) | |
| 8 | g.64624414A>C | CA4764266 | CYP7B1 | c.248T>G (p.Val83Gly) c.314T>G (p.Val105Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64624414A>G | CA4764267 | CYP7B1 | c.248T>C (p.Val83Ala) c.314T>C (p.Val105Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64624414A>T | CA371338207 | CYP7B1 | c.248T>A (p.Val83Asp) c.314T>A (p.Val105Asp) | |
| 8 | g.64624415C>A | CA371338212 | CYP7B1 | c.247G>T (p.Val83Phe) c.313G>T (p.Val105Phe) | |
| 8 | g.64624415C>G | CA371338215 | CYP7B1 | c.247G>C (p.Val83Leu) c.313G>C (p.Val105Leu) | |
| 8 | g.64624415C>T | CA371338218 | CYP7B1 | c.247G>A (p.Val83Ile) c.313G>A (p.Val105Ile) | |
| 8 | g.64624416T>A | CA461120786 | CYP7B1 | c.246A>T (p.Thr82=) c.312A>T (p.Thr104=) | dbSNP |
| 8 | g.64624416T>C | CA461120788 | CYP7B1 | c.246A>G (p.Thr82=) c.312A>G (p.Thr104=) | ClinVar |
| 8 | g.64624416T>G | CA461120790 | CYP7B1 | c.246A>C (p.Thr82=) c.312A>C (p.Thr104=) | gnomAD v4 |
| 8 | g.64624417G>A | CA371338221 | CYP7B1 | c.245C>T (p.Thr82Ile) c.311C>T (p.Thr104Ile) | |
| 8 | g.64624417G>C | CA371338223 | CYP7B1 | c.245C>G (p.Thr82Arg) c.311C>G (p.Thr104Arg) | gnomAD v4 |
| 8 | g.64624417G>T | CA371338226 | CYP7B1 | c.245C>A (p.Thr82Lys) c.311C>A (p.Thr104Lys) | |
| 8 | g.64624418T>A | CA371338229 | CYP7B1 | c.244A>T (p.Thr82Ser) c.310A>T (p.Thr104Ser) | |
| 8 | g.64624418T>C | CA371338231 | CYP7B1 | c.244A>G (p.Thr82Ala) c.310A>G (p.Thr104Ala) | |
| 8 | g.64624418T>G | CA371338234 | CYP7B1 | c.244A>C (p.Thr82Pro) c.310A>C (p.Thr104Pro) | |
| 8 | g.64624419G>A | CA461120797 | CYP7B1 | c.243C>T (p.Phe81=) c.309C>T (p.Phe103=) | |
| 8 | g.64624419G>C | CA371338238 | CYP7B1 | c.243C>G (p.Phe81Leu) c.309C>G (p.Phe103Leu) | |
| 8 | g.64624419G>T | CA371338241 | CYP7B1 | c.243C>A (p.Phe81Leu) c.309C>A (p.Phe103Leu) | COSMIC |
| 8 | g.64624420A= | CA1789667998 | CYP7B1 | c.242T= (p.Phe81=) c.308T= (p.Phe103=) | |
| 8 | g.64624420A>C | CA371338244 | CYP7B1 | c.242T>G (p.Phe81Cys) c.308T>G (p.Phe103Cys) | |
| 8 | g.64624420A>G | CA371338249 | CYP7B1 | c.242T>C (p.Phe81Ser) c.308T>C (p.Phe103Ser) | dbSNP |
| 8 | g.64624420A>T | CA178391935 | CYP7B1 | c.242T>A (p.Phe81Tyr) c.308T>A (p.Phe103Tyr) | dbSNP |
| 8 | g.64624421_64624422del | CA2687454850 | CYP7B1 | c.241_242del (p.Phe81HisfsTer26) c.307_308del (p.Phe103HisfsTer26) | gnomAD v4 |
| 8 | g.64624421A= | CA1789667999 | CYP7B1 | c.241T= (p.Phe81=) c.307T= (p.Phe103=) | |
| 8 | g.64624421A>C | CA371338252 | CYP7B1 | c.241T>G (p.Phe81Val) c.307T>G (p.Phe103Val) | |
| 8 | g.64624421A>G | CA371338254 | CYP7B1 | c.241T>C (p.Phe81Leu) c.307T>C (p.Phe103Leu) | |
| 8 | g.64624421A>T | CA371338257 | CYP7B1 | c.241T>A (p.Phe81Ile) c.307T>A (p.Phe103Ile) | dbSNP |
| 8 | g.64624422A= | CA1789668000 | CYP7B1 | c.240T= (p.Thr80=) c.306T= (p.Thr102=) | |
| 8 | g.64624422A>C | CA461120807 | CYP7B1 | c.240T>G (p.Thr80=) c.306T>G (p.Thr102=) | |
| 8 | g.64624422A>G | CA461120808 | CYP7B1 | c.240T>C (p.Thr80=) c.306T>C (p.Thr102=) | |
| 8 | g.64624422A>T | CA461120810 | CYP7B1 | c.240T>A (p.Thr80=) c.306T>A (p.Thr102=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64624423G>A | CA371338260 | CYP7B1 | c.239C>T (p.Thr80Ile) c.305C>T (p.Thr102Ile) | |
| 8 | g.64624423G>C | CA371338261 | CYP7B1 | c.239C>G (p.Thr80Ser) c.305C>G (p.Thr102Ser) | |
| 8 | g.64624423G= | CA1789668001 | CYP7B1 | c.239C= (p.Thr80=) c.305C= (p.Thr102=) | |
| 8 | g.64624423G>T | CA371338264 | CYP7B1 | c.239C>A (p.Thr80Asn) c.305C>A (p.Thr102Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64624424T>A | CA371338266 | CYP7B1 | c.238A>T (p.Thr80Ser) c.304A>T (p.Thr102Ser) | |
| 8 | g.64624424T>C | CA371338269 | CYP7B1 | c.238A>G (p.Thr80Ala) c.304A>G (p.Thr102Ala) | |
| 8 | g.64624424T>G | CA371338270 | CYP7B1 | c.238A>C (p.Thr80Pro) c.304A>C (p.Thr102Pro) | |
| 8 | g.64624425del | CA2687454851 | CYP7B1 | c.237del (p.Asp79GlufsTer12) c.303del (p.Asp101GlufsTer12) | gnomAD v4 |
| 8 | g.64624425G>A | CA4764268 | CYP7B1 | c.237C>T (p.Asp79=) c.303C>T (p.Asp101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624425G>C | CA371338273 | CYP7B1 | c.237C>G (p.Asp79Glu) c.303C>G (p.Asp101Glu) | |
| 8 | g.64624425G= | CA1789668002 | CYP7B1 | c.237C= (p.Asp79=) c.303C= (p.Asp101=) | |
| 8 | g.64624425G>T | CA371338276 | CYP7B1 | c.237C>A (p.Asp79Glu) c.303C>A (p.Asp101Glu) | |
| 8 | g.64624426T>A | CA371338284 | CYP7B1 | c.236A>T (p.Asp79Val) c.302A>T (p.Asp101Val) | |
| 8 | g.64624426T>C | CA371338280 | CYP7B1 | c.236A>G (p.Asp79Gly) c.302A>G (p.Asp101Gly) | |
| 8 | g.64624426T>G | CA4764269 | CYP7B1 | c.236A>C (p.Asp79Ala) c.302A>C (p.Asp101Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624426T= | CA1789668003 | CYP7B1 | c.236A= (p.Asp79=) c.302A= (p.Asp101=) | |
| 8 | g.64624427C>A | CA371338289 | CYP7B1 | c.235G>T (p.Asp79Tyr) c.301G>T (p.Asp101Tyr) | |
| 8 | g.64624427C>G | CA371338291 | CYP7B1 | c.235G>C (p.Asp79His) c.301G>C (p.Asp101His) | |
| 8 | g.64624427C>T | CA371338293 | CYP7B1 | c.235G>A (p.Asp79Asn) c.301G>A (p.Asp101Asn) | gnomAD v4 |
| 8 | g.64624427_64624428insTTCAACTGTGAAAGTTCAAAAGCA | CA2687454852 | CYP7B1 | c.234_235insTGCTTTTGAACTTTCACAGTTGAA c.300_301insTGCTTTTGAACTTTCACAGTTGAA | gnomAD v4 |
| 8 | g.64624428A>C | CA461120831 | CYP7B1 | c.234T>G (p.Gly78=) c.300T>G (p.Gly100=) | |
| 8 | g.64624428A>G | CA461120828 | CYP7B1 | c.234T>C (p.Gly78=) c.300T>C (p.Gly100=) | |
| 8 | g.64624428A>T | CA461120829 | CYP7B1 | c.234T>A (p.Gly78=) c.300T>A (p.Gly100=) | |
| 8 | g.64624429C>A | CA371338297 | CYP7B1 | c.233G>T (p.Gly78Val) c.299G>T (p.Gly100Val) | |
| 8 | g.64624429C>G | CA371338299 | CYP7B1 | c.233G>C (p.Gly78Ala) c.299G>C (p.Gly100Ala) | COSMIC |
| 8 | g.64624429C>T | CA371338301 | CYP7B1 | c.233G>A (p.Gly78Asp) c.299G>A (p.Gly100Asp) | |
| 8 | g.64624430C>A | CA371338304 | CYP7B1 | c.232G>T (p.Gly78Cys) c.298G>T (p.Gly100Cys) | |
| 8 | g.64624430C= | CA1789668004 | CYP7B1 | c.232G= (p.Gly78=) c.298G= (p.Gly100=) | |
| 8 | g.64624430C>G | CA371338307 | CYP7B1 | c.232G>C (p.Gly78Arg) c.298G>C (p.Gly100Arg) | |
| 8 | g.64624430C>T | CA371338309 | CYP7B1 | c.232G>A (p.Gly78Ser) c.298G>A (p.Gly100Ser) | dbSNP gnomAD v4 |
| 8 | g.64624431A>C | CA371338312 | CYP7B1 | c.231T>G (p.His77Gln) c.297T>G (p.His99Gln) | |
| 8 | g.64624431A>G | CA461120838 | CYP7B1 | c.231T>C (p.His77=) c.297T>C (p.His99=) | |
| 8 | g.64624431A>T | CA371338315 | CYP7B1 | c.231T>A (p.His77Gln) c.297T>A (p.His99Gln) | |
| 8 | g.64624432del | CA2687454853 | CYP7B1 | c.230del (p.His77LeufsTer14) c.296del (p.His99LeufsTer14) | gnomAD v4 |
| 8 | g.64624432T>A | CA371338325 | CYP7B1 | c.230A>T (p.His77Leu) c.296A>T (p.His99Leu) | dbSNP |
| 8 | g.64624432T>C | CA371338328 | CYP7B1 | c.230A>G (p.His77Arg) c.296A>G (p.His99Arg) | |
| 8 | g.64624432T>G | CA371338321 | CYP7B1 | c.230A>C (p.His77Pro) c.296A>C (p.His99Pro) | |
| 8 | g.64624433G>A | CA4764270 | CYP7B1 | c.229C>T (p.His77Tyr) c.295C>T (p.His99Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64624433G>C | CA371338330 | CYP7B1 | c.229C>G (p.His77Asp) c.295C>G (p.His99Asp) | |
| 8 | g.64624433G= | CA1789668005 | CYP7B1 | c.229C= (p.His77=) c.295C= (p.His99=) | |
| 8 | g.64624433G>T | CA371338334 | CYP7B1 | c.229C>A (p.His77Asn) c.295C>A (p.His99Asn) | dbSNP |
| 8 | g.64624434T>A | CA371338338 | CYP7B1 | c.228A>T (p.Gln76His) c.294A>T (p.Gln98His) | |
| 8 | g.64624434T>C | CA461120842 | CYP7B1 | c.228A>G (p.Gln76=) c.294A>G (p.Gln98=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64624434T>G | CA371338341 | CYP7B1 | c.228A>C (p.Gln76His) c.294A>C (p.Gln98His) | COSMIC |
| 8 | g.64624434T= | CA1789668006 | CYP7B1 | c.228A= (p.Gln76=) c.294A= (p.Gln98=) | |
| 8 | g.64624435T>A | CA371338342 | CYP7B1 | c.227A>T (p.Gln76Leu) c.293A>T (p.Gln98Leu) | |
| 8 | g.64624435T>C | CA371338344 | CYP7B1 | c.227A>G (p.Gln76Arg) c.293A>G (p.Gln98Arg) | |
| 8 | g.64624435T>G | CA371338347 | CYP7B1 | c.227A>C (p.Gln76Pro) c.293A>C (p.Gln98Pro) | |
| 8 | g.64624436G>A | CA371338350 | CYP7B1 | c.226C>T (p.Gln76Ter) c.292C>T (p.Gln98Ter) | gnomAD v4 |
| 8 | g.64624436G>C | CA371338353 | CYP7B1 | c.226C>G (p.Gln76Glu) c.292C>G (p.Gln98Glu) | |
| 8 | g.64624436G>T | CA371338356 | CYP7B1 | c.226C>A (p.Gln76Lys) c.292C>A (p.Gln98Lys) | |
| 8 | g.64624437C>A | CA371338360 | CYP7B1 | c.225G>T (p.Lys75Asn) c.291G>T (p.Lys97Asn) | |
| 8 | g.64624437C= | CA1789668007 | CYP7B1 | c.225G= (p.Lys75=) c.291G= (p.Lys97=) | |
| 8 | g.64624437C>G | CA371338362 | CYP7B1 | c.225G>C (p.Lys75Asn) c.291G>C (p.Lys97Asn) | |
| 8 | g.64624437C>T | CA461120849 | CYP7B1 | c.225G>A (p.Lys75=) c.291G>A (p.Lys97=) | dbSNP |
| 8 | g.64624438T>A | CA371338373 | CYP7B1 | c.224A>T (p.Lys75Met) c.290A>T (p.Lys97Met) | |
| 8 | g.64624438T>C | CA371338370 | CYP7B1 | c.224A>G (p.Lys75Arg) c.290A>G (p.Lys97Arg) | |
| 8 | g.64624438T>G | CA371338367 | CYP7B1 | c.224A>C (p.Lys75Thr) c.290A>C (p.Lys97Thr) | |
| 8 | g.64624441del | CA2687454854 | CYP7B1 | c.224del (p.Lys75SerfsTer16) c.290del (p.Lys97SerfsTer16) | gnomAD v4 |
| 8 | g.64624439T>A | CA4764271 | CYP7B1 | c.223A>T (p.Lys75Ter) c.289A>T (p.Lys97Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624439T>C | CA371338380 | CYP7B1 | c.223A>G (p.Lys75Glu) c.289A>G (p.Lys97Glu) | |
| 8 | g.64624439T>G | CA371338382 | CYP7B1 | c.223A>C (p.Lys75Gln) c.289A>C (p.Lys97Gln) | |
| 8 | g.64624439T= | CA1789668008 | CYP7B1 | c.223A= (p.Lys75=) c.289A= (p.Lys97=) | |
| 8 | g.64624440T>A | CA371338384 | CYP7B1 | c.222A>T (p.Gln74His) c.288A>T (p.Gln96His) | |
| 8 | g.64624440T>C | CA461120855 | CYP7B1 | c.222A>G (p.Gln74=) c.288A>G (p.Gln96=) | |
| 8 | g.64624440T>G | CA371338386 | CYP7B1 | c.222A>C (p.Gln74His) c.288A>C (p.Gln96His) | |
| 8 | g.64624441T>A | CA371338389 | CYP7B1 | c.221A>T (p.Gln74Leu) c.287A>T (p.Gln96Leu) | |
| 8 | g.64624441T>C | CA371338393 | CYP7B1 | c.221A>G (p.Gln74Arg) c.287A>G (p.Gln96Arg) | |
| 8 | g.64624441T>G | CA371338395 | CYP7B1 | c.221A>C (p.Gln74Pro) c.287A>C (p.Gln96Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64624441T= | CA1789668009 | CYP7B1 | c.221A= (p.Gln74=) c.287A= (p.Gln96=) | |
| 8 | g.64624442G>A | CA371338399 | CYP7B1 | c.220C>T (p.Gln74Ter) c.286C>T (p.Gln96Ter) | |
| 8 | g.64624442G>C | CA371338402 | CYP7B1 | c.220C>G (p.Gln74Glu) c.286C>G (p.Gln96Glu) | |
| 8 | g.64624442G>T | CA371338406 | CYP7B1 | c.220C>A (p.Gln74Lys) c.286C>A (p.Gln96Lys) | |
| 8 | g.64624443A>C | CA461120860 | CYP7B1 | c.219T>G (p.Leu73=) c.285T>G (p.Leu95=) | |
| 8 | g.64624443A>G | CA461120862 | CYP7B1 | c.219T>C (p.Leu73=) c.285T>C (p.Leu95=) | |
| 8 | g.64624443A>T | CA461120864 | CYP7B1 | c.219T>A (p.Leu73=) c.285T>A (p.Leu95=) | |
| 8 | g.64624444A>C | CA371338409 | CYP7B1 | c.218T>G (p.Leu73Arg) c.284T>G (p.Leu95Arg) | COSMIC |
| 8 | g.64624444A>G | CA371338411 | CYP7B1 | c.218T>C (p.Leu73Pro) c.284T>C (p.Leu95Pro) | |
| 8 | g.64624444A>T | CA371338414 | CYP7B1 | c.218T>A (p.Leu73His) c.284T>A (p.Leu95His) | |
| 8 | g.64624445G>A | CA371338421 | CYP7B1 | c.217C>T (p.Leu73Phe) c.283C>T (p.Leu95Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64624445G>C | CA371338423 | CYP7B1 | c.217C>G (p.Leu73Val) c.283C>G (p.Leu95Val) | gnomAD v4 |
| 8 | g.64624445G= | CA1789668010 | CYP7B1 | c.217C= (p.Leu73=) c.283C= (p.Leu95=) | |
| 8 | g.64624445G>T | CA371338419 | CYP7B1 | c.217C>A (p.Leu73Ile) c.283C>A (p.Leu95Ile) | |
| 8 | g.64624446T>A | CA461120870 | CYP7B1 | c.216A>T (p.Thr72=) c.282A>T (p.Thr94=) | |
| 8 | g.64624446T>C | CA4764272 | CYP7B1 | c.216A>G (p.Thr72=) c.282A>G (p.Thr94=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64624446T>G | CA461120877 | CYP7B1 | c.216A>C (p.Thr72=) c.282A>C (p.Thr94=) | dbSNP gnomAD v4 |
| 8 | g.64624446T= | CA1789668011 | CYP7B1 | c.216A= (p.Thr72=) c.282A= (p.Thr94=) | |
| 8 | g.64624447G>A | CA371338429 | CYP7B1 | c.215C>T (p.Thr72Ile) c.281C>T (p.Thr94Ile) | |
| 8 | g.64624447G>C | CA371338431 | CYP7B1 | c.215C>G (p.Thr72Arg) c.281C>G (p.Thr94Arg) | |
| 8 | g.64624447G>T | CA371338435 | CYP7B1 | c.215C>A (p.Thr72Lys) c.281C>A (p.Thr94Lys) | |
| 8 | g.64624448T>A | CA371338439 | CYP7B1 | c.214A>T (p.Thr72Ser) c.280A>T (p.Thr94Ser) | gnomAD v4 |
| 8 | g.64624448T>C | CA371338440 | CYP7B1 | c.214A>G (p.Thr72Ala) c.280A>G (p.Thr94Ala) | |
| 8 | g.64624448T>G | CA371338443 | CYP7B1 | c.214A>C (p.Thr72Pro) c.280A>C (p.Thr94Pro) | |
| 8 | g.64624449T>A | CA371338446 | CYP7B1 | c.213A>T (p.Lys71Asn) c.279A>T (p.Lys93Asn) | |
| 8 | g.64624449T>C | CA461120888 | CYP7B1 | c.213A>G (p.Lys71=) c.279A>G (p.Lys93=) | |
| 8 | g.64624449T>G | CA371338449 | CYP7B1 | c.213A>C (p.Lys71Asn) c.279A>C (p.Lys93Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624449T= | CA1789668012 | CYP7B1 | c.213A= (p.Lys71=) c.279A= (p.Lys93=) | |
| 8 | g.64624450T>A | CA371338453 | CYP7B1 | c.212A>T (p.Lys71Ile) c.278A>T (p.Lys93Ile) | |
| 8 | g.64624450T>C | CA371338457 | CYP7B1 | c.212A>G (p.Lys71Arg) c.278A>G (p.Lys93Arg) | |
| 8 | g.64624450T>G | CA371338460 | CYP7B1 | c.212A>C (p.Lys71Thr) c.278A>C (p.Lys93Thr) | |
| 8 | g.64624451T>A | CA371338469 | CYP7B1 | c.211A>T (p.Lys71Ter) c.277A>T (p.Lys93Ter) | |
| 8 | g.64624451T>C | CA371338471 | CYP7B1 | c.211A>G (p.Lys71Glu) c.277A>G (p.Lys93Glu) | |
| 8 | g.64624451T>G | CA371338465 | CYP7B1 | c.211A>C (p.Lys71Gln) c.277A>C (p.Lys93Gln) | |
| 8 | g.64624452C>A | CA371338474 | CYP7B1 | c.210G>T (p.Met70Ile) c.276G>T (p.Met92Ile) | |
| 8 | g.64624452C>G | CA371338477 | CYP7B1 | c.210G>C (p.Met70Ile) c.276G>C (p.Met92Ile) | |
| 8 | g.64624452C>T | CA371338481 | CYP7B1 | c.210G>A (p.Met70Ile) c.276G>A (p.Met92Ile) | |
| 8 | g.64624453A= | CA1789668013 | CYP7B1 | c.209T= (p.Met70=) c.275T= (p.Met92=) | |
| 8 | g.64624453A>C | CA371338483 | CYP7B1 | c.209T>G (p.Met70Arg) c.275T>G (p.Met92Arg) | |
| 8 | g.64624453A>G | CA371338485 | CYP7B1 | c.209T>C (p.Met70Thr) c.275T>C (p.Met92Thr) | |
| 8 | g.64624453A>T | CA10625737 | CYP7B1 | c.209T>A (p.Met70Lys) c.275T>A (p.Met92Lys) | ClinVar dbSNP |
| 8 | g.64624454T>A | CA371338492 | CYP7B1 | c.208A>T (p.Met70Leu) c.274A>T (p.Met92Leu) | |
| 8 | g.64624454T>C | CA371338503 | CYP7B1 | c.208A>G (p.Met70Val) c.274A>G (p.Met92Val) | gnomAD v4 |
| 8 | g.64624454T>G | CA371338495 | CYP7B1 | c.208A>C (p.Met70Leu) c.274A>C (p.Met92Leu) | |
| 8 | g.64624455G>A | CA461120909 | CYP7B1 | c.207C>T (p.Phe69=) c.273C>T (p.Phe91=) | dbSNP |
| 8 | g.64624455G>C | CA371338506 | CYP7B1 | c.207C>G (p.Phe69Leu) c.273C>G (p.Phe91Leu) | |
| 8 | g.64624455G= | CA1789668014 | CYP7B1 | c.207C= (p.Phe69=) c.273C= (p.Phe91=) | |
| 8 | g.64624455G>T | CA371338509 | CYP7B1 | c.207C>A (p.Phe69Leu) c.273C>A (p.Phe91Leu) | |
| 8 | g.64624456A>C | CA371338514 | CYP7B1 | c.206T>G (p.Phe69Cys) c.272T>G (p.Phe91Cys) | |
| 8 | g.64624456A>G | CA371338517 | CYP7B1 | c.206T>C (p.Phe69Ser) c.272T>C (p.Phe91Ser) | |
| 8 | g.64624456A>T | CA371338521 | CYP7B1 | c.206T>A (p.Phe69Tyr) c.272T>A (p.Phe91Tyr) | |
| 8 | g.64624457A>C | CA371338528 | CYP7B1 | c.205T>G (p.Phe69Val) c.271T>G (p.Phe91Val) | |
| 8 | g.64624457A>G | CA371338531 | CYP7B1 | c.205T>C (p.Phe69Leu) c.271T>C (p.Phe91Leu) | |
| 8 | g.64624457A>T | CA371338526 | CYP7B1 | c.205T>A (p.Phe69Ile) c.271T>A (p.Phe91Ile) | gnomAD v4 |
| 8 | g.64624458C>A | CA4764273 | CYP7B1 | c.204G>T (p.Arg68Ser) c.270G>T (p.Arg90Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64624458C= | CA1789668015 | CYP7B1 | c.204G= (p.Arg68=) c.270G= (p.Arg90=) | |
| 8 | g.64624458C>G | CA371338537 | CYP7B1 | c.204G>C (p.Arg68Ser) c.270G>C (p.Arg90Ser) | ClinVar dbSNP |
| 8 | g.64624458C>T | CA350038 | CYP7B1 | c.204G>A (p.Arg68=) c.270G>A (p.Arg90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624459C>A | CA371338540 | CYP7B1 | c.203G>T (p.Arg68Met) c.269G>T (p.Arg90Met) | dbSNP COSMIC |
| 8 | g.64624459C= | CA1789668016 | CYP7B1 | c.203G= (p.Arg68=) c.269G= (p.Arg90=) | |
| 8 | g.64624459C>G | CA371338542 | CYP7B1 | c.203G>C (p.Arg68Thr) c.269G>C (p.Arg90Thr) | |
| 8 | g.64624459C>T | CA371338545 | CYP7B1 | c.203G>A (p.Arg68Lys) c.269G>A (p.Arg90Lys) | |
| 8 | g.64624460T>A | CA371338548 | CYP7B1 | c.202A>T (p.Arg68Trp) c.268A>T (p.Arg90Trp) | |
| 8 | g.64624460T>C | CA371338551 | CYP7B1 | c.202A>G (p.Arg68Gly) c.268A>G (p.Arg90Gly) | dbSNP |
| 8 | g.64624460T>G | CA461120923 | CYP7B1 | c.202A>C (p.Arg68=) c.268A>C (p.Arg90=) | |
| 8 | g.64624460T= | CA1789668017 | CYP7B1 | c.202A= (p.Arg68=) c.268A= (p.Arg90=) | |
| 8 | g.64624461T>A | CA371338554 | CYP7B1 | c.201A>T (p.Leu67Phe) c.267A>T (p.Leu89Phe) | |
| 8 | g.64624461T>C | CA461120932 | CYP7B1 | c.201A>G (p.Leu67=) c.267A>G (p.Leu89=) | gnomAD v4 |
| 8 | g.64624461T>G | CA371338557 | CYP7B1 | c.201A>C (p.Leu67Phe) c.267A>C (p.Leu89Phe) | |
| 8 | g.64624462A>C | CA371338564 | CYP7B1 | c.200T>G (p.Leu67Ter) c.266T>G (p.Leu89Ter) | gnomAD v4 |
| 8 | g.64624462A>G | CA371338561 | CYP7B1 | c.200T>C (p.Leu67Ser) c.266T>C (p.Leu89Ser) | |
| 8 | g.64624462A>T | CA371338562 | CYP7B1 | c.200T>A (p.Leu67Ter) c.266T>A (p.Leu89Ter) | |
| 8 | g.64624463dup | CA2695209519 | CYP7B1 | c.200dup (p.Leu67PhefsTer13) c.266dup (p.Leu89PhefsTer13) | |
| 8 | g.64624463A>C | CA371338569 | CYP7B1 | c.199T>G (p.Leu67Val) c.265T>G (p.Leu89Val) | |
| 8 | g.64624463A>G | CA461120940 | CYP7B1 | c.199T>C (p.Leu67=) c.265T>C (p.Leu89=) | gnomAD v4 |
| 8 | g.64624463A>T | CA371338571 | CYP7B1 | c.199T>A (p.Leu67Ile) c.265T>A (p.Leu89Ile) | |
| 8 | g.64624464G>A | CA461120943 | CYP7B1 | c.198C>T (p.Pro66=) c.264C>T (p.Pro88=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.64624464G>C | CA461120944 | CYP7B1 | c.198C>G (p.Pro66=) c.264C>G (p.Pro88=) | |
| 8 | g.64624464G= | CA1789668018 | CYP7B1 | c.198C= (p.Pro66=) c.264C= (p.Pro88=) | |
| 8 | g.64624464G>T | CA461120946 | CYP7B1 | c.198C>A (p.Pro66=) c.264C>A (p.Pro88=) | |
| 8 | g.64624465G>A | CA371338575 | CYP7B1 | c.197C>T (p.Pro66Leu) c.263C>T (p.Pro88Leu) | COSMIC |
| 8 | g.64624465G>C | CA10582589 | CYP7B1 | c.197C>G (p.Pro66Arg) c.263C>G (p.Pro88Arg) | ClinVar dbSNP |
| 8 | g.64624465G= | CA1789668019 | CYP7B1 | c.197C= (p.Pro66=) c.263C= (p.Pro88=) | |
| 8 | g.64624465G>T | CA371338581 | CYP7B1 | c.197C>A (p.Pro66His) c.263C>A (p.Pro88His) | |
| 8 | g.64624466G>A | CA371338590 | CYP7B1 | c.196C>T (p.Pro66Ser) c.262C>T (p.Pro88Ser) | |
| 8 | g.64624466G>C | CA371338584 | CYP7B1 | c.196C>G (p.Pro66Ala) c.262C>G (p.Pro88Ala) | |
| 8 | g.64624466G>T | CA371338587 | CYP7B1 | c.196C>A (p.Pro66Thr) c.262C>A (p.Pro88Thr) | |
| 8 | g.64624467G>A | CA461120955 | CYP7B1 | c.195C>T (p.Asp65=) c.261C>T (p.Asp87=) | |
| 8 | g.64624467G>C | CA371338593 | CYP7B1 | c.195C>G (p.Asp65Glu) c.261C>G (p.Asp87Glu) | |
| 8 | g.64624467G>T | CA371338597 | CYP7B1 | c.195C>A (p.Asp65Glu) c.261C>A (p.Asp87Glu) | |
| 8 | g.64624468T>A | CA371338601 | CYP7B1 | c.194A>T (p.Asp65Val) c.260A>T (p.Asp87Val) | |
| 8 | g.64624468T>C | CA371338604 | CYP7B1 | c.194A>G (p.Asp65Gly) c.260A>G (p.Asp87Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64624468T>G | CA371338606 | CYP7B1 | c.194A>C (p.Asp65Ala) c.260A>C (p.Asp87Ala) | |
| 8 | g.64624468T= | CA1789668020 | CYP7B1 | c.194A= (p.Asp65=) c.260A= (p.Asp87=) | |
| 8 | g.64624469C>A | CA371338610 | CYP7B1 | c.193G>T (p.Asp65Tyr) c.259G>T (p.Asp87Tyr) | |
| 8 | g.64624469C= | CA1789668021 | CYP7B1 | c.193G= (p.Asp65=) c.259G= (p.Asp87=) | |
| 8 | g.64624469C>G | CA371338613 | CYP7B1 | c.193G>C (p.Asp65His) c.259G>C (p.Asp87His) | |
| 8 | g.64624469C>T | CA371338616 | CYP7B1 | c.193G>A (p.Asp65Asn) c.259G>A (p.Asp87Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624470T>A | CA371338620 | CYP7B1 | c.192A>T (p.Lys64Asn) c.258A>T (p.Lys86Asn) | |
| 8 | g.64624470T>C | CA461120974 | CYP7B1 | c.192A>G (p.Lys64=) c.258A>G (p.Lys86=) | ClinVar |
| 8 | g.64624470T>G | CA371338623 | CYP7B1 | c.192A>C (p.Lys64Asn) c.258A>C (p.Lys86Asn) | |
| 8 | g.64624471T>A | CA371338628 | CYP7B1 | c.191A>T (p.Lys64Ile) c.257A>T (p.Lys86Ile) | |
| 8 | g.64624471T>C | CA371338630 | CYP7B1 | c.191A>G (p.Lys64Arg) c.257A>G (p.Lys86Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64624471T>G | CA371338633 | CYP7B1 | c.191A>C (p.Lys64Thr) c.257A>C (p.Lys86Thr) | |
| 8 | g.64624472T>A | CA371338637 | CYP7B1 | c.190A>T (p.Lys64Ter) c.256A>T (p.Lys86Ter) | |
| 8 | g.64624472T>C | CA371338641 | CYP7B1 | c.190A>G (p.Lys64Glu) c.256A>G (p.Lys86Glu) | |
| 8 | g.64624472T>G | CA371338640 | CYP7B1 | c.190A>C (p.Lys64Gln) c.256A>C (p.Lys86Gln) | |
| 8 | g.64624473T>A | CA461120983 | CYP7B1 | c.189A>T (p.Arg63=) c.255A>T (p.Arg85=) | |
| 8 | g.64624473T>C | CA461120985 | CYP7B1 | c.189A>G (p.Arg63=) c.255A>G (p.Arg85=) | ClinVar |
| 8 | g.64624473T>G | CA461120986 | CYP7B1 | c.189A>C (p.Arg63=) c.255A>C (p.Arg85=) | |
| 8 | g.64624474C>A | CA371338646 | CYP7B1 | c.188G>T (p.Arg63Leu) c.254G>T (p.Arg85Leu) | |
| 8 | g.64624474C= | CA1789668022 | CYP7B1 | c.188G= (p.Arg63=) c.254G= (p.Arg85=) | |
| 8 | g.64624474C>G | CA371338650 | CYP7B1 | c.188G>C (p.Arg63Pro) c.254G>C (p.Arg85Pro) | gnomAD v4 |
| 8 | g.64624474C>T | CA4764274 | CYP7B1 | c.188G>A (p.Arg63Gln) c.254G>A (p.Arg85Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.64624475G>A | CA4764275 | CYP7B1 | c.187C>T (p.Arg63Ter) c.253C>T (p.Arg85Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.64624475G>C | CA371338659 | CYP7B1 | c.187C>G (p.Arg63Gly) c.253C>G (p.Arg85Gly) | |
| 8 | g.64624475G= | CA1789668023 | CYP7B1 | c.187C= (p.Arg63=) c.253C= (p.Arg85=) | |
| 8 | g.64624475G>T | CA461120992 | CYP7B1 | c.187C>A (p.Arg63=) c.253C>A (p.Arg85=) | |
| 8 | g.64624476T>A | CA371338664 | CYP7B1 | c.186A>T (p.Leu62Phe) c.252A>T (p.Leu84Phe) | |
| 8 | g.64624476T>C | CA461120999 | CYP7B1 | c.186A>G (p.Leu62=) c.252A>G (p.Leu84=) | |
| 8 | g.64624476T>G | CA178391948 | CYP7B1 | c.186A>C (p.Leu62Phe) c.252A>C (p.Leu84Phe) | dbSNP gnomAD v4 |
| 8 | g.64624476T= | CA1789668024 | CYP7B1 | c.186A= (p.Leu62=) c.252A= (p.Leu84=) | |
| 8 | g.64624477A>C | CA371338671 | CYP7B1 | c.185T>G (p.Leu62Ter) c.251T>G (p.Leu84Ter) | |
| 8 | g.64624477A>G | CA371338675 | CYP7B1 | c.185T>C (p.Leu62Ser) c.251T>C (p.Leu84Ser) | |
| 8 | g.64624477A>T | CA371338677 | CYP7B1 | c.185T>A (p.Leu62Ter) c.251T>A (p.Leu84Ter) | |
| 8 | g.64624478A>C | CA371338681 | CYP7B1 | c.184T>G (p.Leu62Val) c.250T>G (p.Leu84Val) | gnomAD v4 |
| 8 | g.64624478A>G | CA461121003 | CYP7B1 | c.184T>C (p.Leu62=) c.250T>C (p.Leu84=) | |
| 8 | g.64624478A>T | CA371338684 | CYP7B1 | c.184T>A (p.Leu62Ile) c.250T>A (p.Leu84Ile) | |
| 8 | g.64624479G>A | CA4764276 | CYP7B1 | c.183C>T (p.Asn61=) c.249C>T (p.Asn83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64624479G>C | CA371338690 | CYP7B1 | c.183C>G (p.Asn61Lys) c.249C>G (p.Asn83Lys) | |
| 8 | g.64624479G= | CA1789668025 | CYP7B1 | c.183C= (p.Asn61=) c.249C= (p.Asn83=) | |
| 8 | g.64624479G>T | CA371338688 | CYP7B1 | c.183C>A (p.Asn61Lys) c.249C>A (p.Asn83Lys) | |
| 8 | g.64624480T>A | CA371338695 | CYP7B1 | c.182A>T (p.Asn61Ile) c.248A>T (p.Asn83Ile) | |
| 8 | g.64624480T>C | CA371338698 | CYP7B1 | c.182A>G (p.Asn61Ser) c.248A>G (p.Asn83Ser) | gnomAD v4 |
| 8 | g.64624480T>G | CA371338699 | CYP7B1 | c.182A>C (p.Asn61Thr) c.248A>C (p.Asn83Thr) | |
| 8 | g.64624481T>A | CA371338702 | CYP7B1 | c.181A>T (p.Asn61Tyr) c.247A>T (p.Asn83Tyr) | |
| 8 | g.64624481T>C | CA371338703 | CYP7B1 | c.181A>G (p.Asn61Asp) c.247A>G (p.Asn83Asp) | |
| 8 | g.64624481T>G | CA371338707 | CYP7B1 | c.181A>C (p.Asn61His) c.247A>C (p.Asn83His) | |
| 8 | g.64624482C>A | CA461121015 | CYP7B1 | c.180G>T (p.Leu60=) c.246G>T (p.Leu82=) | COSMIC |
| 8 | g.64624482C>G | CA461121019 | CYP7B1 | c.180G>C (p.Leu60=) c.246G>C (p.Leu82=) | |
| 8 | g.64624482C>T | CA461121017 | CYP7B1 | c.180G>A (p.Leu60=) c.246G>A (p.Leu82=) | |
| 8 | g.64624483A>C | CA371338712 | CYP7B1 | c.179T>G (p.Leu60Arg) c.245T>G (p.Leu82Arg) | |
| 8 | g.64624483A>G | CA371338716 | CYP7B1 | c.179T>C (p.Leu60Pro) c.245T>C (p.Leu82Pro) | |
| 8 | g.64624483A>T | CA371338721 | CYP7B1 | c.179T>A (p.Leu60Gln) c.245T>A (p.Leu82Gln) | gnomAD v4 |
| 8 | g.64624484G>A | CA461121022 | CYP7B1 | c.178C>T (p.Leu60=) c.244C>T (p.Leu82=) | |
| 8 | g.64624484G>C | CA371338724 | CYP7B1 | c.178C>G (p.Leu60Val) c.244C>G (p.Leu82Val) | |
| 8 | g.64624484G= | CA1789668026 | CYP7B1 | c.178C= (p.Leu60=) c.244C= (p.Leu82=) | |
| 8 | g.64624484G>T | CA371338728 | CYP7B1 | c.178C>A (p.Leu60Met) c.244C>A (p.Leu82Met) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64624485del | CA2739268837 | CYP7B1 | c.178del (p.Leu60Ter) c.244del (p.Leu82Ter) | ClinVar |
| 8 | g.64624485G>A | CA461121025 | CYP7B1 | c.177C>T (p.Val59=) c.243C>T (p.Val81=) | ClinVar |
| 8 | g.64624485G>C | CA461121026 | CYP7B1 | c.177C>G (p.Val59=) c.243C>G (p.Val81=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64624485G= | CA1789668027 | CYP7B1 | c.177C= (p.Val59=) c.243C= (p.Val81=) | |
| 8 | g.64624485G>T | CA4764277 | CYP7B1 | c.177C>A (p.Val59=) c.243C>A (p.Val81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624486A= | CA1789668028 | CYP7B1 | c.176T= (p.Val59=) c.242T= (p.Val81=) | |
| 8 | g.64624486A>C | CA371338734 | CYP7B1 | c.176T>G (p.Val59Gly) c.242T>G (p.Val81Gly) | |
| 8 | g.64624486A>G | CA4764278 | CYP7B1 | c.176T>C (p.Val59Ala) c.242T>C (p.Val81Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624486A>T | CA371338738 | CYP7B1 | c.176T>A (p.Val59Asp) c.242T>A (p.Val81Asp) | |
| 8 | g.64624487C>A | CA371338744 | CYP7B1 | c.175G>T (p.Val59Phe) c.241G>T (p.Val81Phe) | |
| 8 | g.64624487C>G | CA371338752 | CYP7B1 | c.175G>C (p.Val59Leu) c.241G>C (p.Val81Leu) | |
| 8 | g.64624487C>T | CA371338747 | CYP7B1 | c.175G>A (p.Val59Ile) c.241G>A (p.Val81Ile) | |
| 8 | g.64624488C>A | CA461121036 | CYP7B1 | c.174G>T (p.Val58=) c.240G>T (p.Val80=) | |
| 8 | g.64624488C= | CA1789668029 | CYP7B1 | c.174G= (p.Val58=) c.240G= (p.Val80=) | |
| 8 | g.64624488C>G | CA461121038 | CYP7B1 | c.174G>C (p.Val58=) c.240G>C (p.Val80=) | |
| 8 | g.64624488C>T | CA461121042 | CYP7B1 | c.174G>A (p.Val58=) c.240G>A (p.Val80=) | COSMIC |
| 8 | g.64624489A>C | CA371338756 | CYP7B1 | c.173T>G (p.Val58Gly) c.239T>G (p.Val80Gly) | |
| 8 | g.64624489A>G | CA371338760 | CYP7B1 | c.173T>C (p.Val58Ala) c.239T>C (p.Val80Ala) | |
| 8 | g.64624489A>T | CA371338764 | CYP7B1 | c.173T>A (p.Val58Glu) c.239T>A (p.Val80Glu) | |
| 8 | g.64624489dup | CA582409116 | CYP7B1 | c.173dup (p.Val59GlyfsTer21) c.239dup (p.Val81GlyfsTer21) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64624490_64624495dup | CA582409115 | CYP7B1 | c.168_173dup (p.Val58_Val59insGlyVal) c.234_239dup (p.Val80_Val81insGlyVal) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64624490C>A | CA371338768 | CYP7B1 | c.172G>T (p.Val58Leu) c.238G>T (p.Val80Leu) | |
| 8 | g.64624490C= | CA1789668030 | CYP7B1 | c.172G= (p.Val58=) c.238G= (p.Val80=) | |
| 8 | g.64624490C>G | CA371338771 | CYP7B1 | c.172G>C (p.Val58Leu) c.238G>C (p.Val80Leu) | |
| 8 | g.64624490C>T | CA371338773 | CYP7B1 | c.172G>A (p.Val58Met) c.238G>A (p.Val80Met) | dbSNP |
| 8 | g.64624491T>A | CA4764279 | CYP7B1 | c.171A>T (p.Gly57=) c.237A>T (p.Gly79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624491T>C | CA461121052 | CYP7B1 | c.171A>G (p.Gly57=) c.237A>G (p.Gly79=) | |
| 8 | g.64624491T>G | CA461121054 | CYP7B1 | c.171A>C (p.Gly57=) c.237A>C (p.Gly79=) | |
| 8 | g.64624491T= | CA1789668031 | CYP7B1 | c.171A= (p.Gly57=) c.237A= (p.Gly79=) | |
| 8 | g.64624491_64624492insTT | CA2687454855 | CYP7B1 | c.171_172insAA (p.Val58LysfsTer4) c.237_238insAA (p.Val80LysfsTer4) | gnomAD v4 |
| 8 | g.64624492C>A | CA371338780 | CYP7B1 | c.170G>T (p.Gly57Val) c.236G>T (p.Gly79Val) | |
| 8 | g.64624492C= | CA1789668032 | CYP7B1 | c.170G= (p.Gly57=) c.236G= (p.Gly79=) | |
| 8 | g.64624492C>G | CA371338782 | CYP7B1 | c.170G>C (p.Gly57Ala) c.236G>C (p.Gly79Ala) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64624492C>T | CA371338785 | CYP7B1 | c.170G>A (p.Gly57Glu) c.236G>A (p.Gly79Glu) | dbSNP |
| 8 | g.64624493C>A | CA371338793 | CYP7B1 | c.169G>T (p.Gly57Ter) c.235G>T (p.Gly79Ter) | ClinVar |
| 8 | g.64624493C= | CA1789668033 | CYP7B1 | c.169G= (p.Gly57=) c.235G= (p.Gly79=) | |
| 8 | g.64624493C>G | CA371338790 | CYP7B1 | c.169G>C (p.Gly57Arg) c.235G>C (p.Gly79Arg) | |
| 8 | g.64624493C>T | CA210941 | CYP7B1 | c.169G>A (p.Gly57Arg) c.235G>A (p.Gly79Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64624494A>C | CA461121063 | CYP7B1 | c.168T>G (p.Leu56=) c.234T>G (p.Leu78=) | |
| 8 | g.64624494A>G | CA461121064 | CYP7B1 | c.168T>C (p.Leu56=) c.234T>C (p.Leu78=) | gnomAD v4 |
| 8 | g.64624494A>T | CA461121066 | CYP7B1 | c.168T>A (p.Leu56=) c.234T>A (p.Leu78=) | |
| 8 | g.64624495A= | CA1789668034 | CYP7B1 | c.167T= (p.Leu56=) c.233T= (p.Leu78=) | |
| 8 | g.64624495A>C | CA371338798 | CYP7B1 | c.167T>G (p.Leu56Arg) c.233T>G (p.Leu78Arg) | |
| 8 | g.64624495A>G | CA371338801 | CYP7B1 | c.167T>C (p.Leu56Pro) c.233T>C (p.Leu78Pro) | ClinVar dbSNP |
| 8 | g.64624495A>T | CA371338805 | CYP7B1 | c.167T>A (p.Leu56His) c.233T>A (p.Leu78His) | |
| 8 | g.64624496G>A | CA371338807 | CYP7B1 | c.166C>T (p.Leu56Phe) c.232C>T (p.Leu78Phe) | |
| 8 | g.64624496G>C | CA371338811 | CYP7B1 | c.166C>G (p.Leu56Val) c.232C>G (p.Leu78Val) | |
| 8 | g.64624496G>T | CA371338814 | CYP7B1 | c.166C>A (p.Leu56Ile) c.232C>A (p.Leu78Ile) | |
| 8 | g.64624497A>C | CA371338818 | CYP7B1 | c.165T>G (p.Tyr55Ter) c.231T>G (p.Tyr77Ter) | |
| 8 | g.64624497A>G | CA461121077 | CYP7B1 | c.165T>C (p.Tyr55=) c.231T>C (p.Tyr77=) | gnomAD v4 |
| 8 | g.64624497A>T | CA371338821 | CYP7B1 | c.165T>A (p.Tyr55Ter) c.231T>A (p.Tyr77Ter) | |
| 8 | g.64624498T>A | CA371338825 | CYP7B1 | c.164A>T (p.Tyr55Phe) c.230A>T (p.Tyr77Phe) | gnomAD v4 |
| 8 | g.64624498T>C | CA371338827 | CYP7B1 | c.164A>G (p.Tyr55Cys) c.230A>G (p.Tyr77Cys) | |
| 8 | g.64624498T>G | CA371338831 | CYP7B1 | c.164A>C (p.Tyr55Ser) c.230A>C (p.Tyr77Ser) | |
| 8 | g.64624499A>C | CA371338839 | CYP7B1 | c.163T>G (p.Tyr55Asp) c.229T>G (p.Tyr77Asp) | |
| 8 | g.64624499A>G | CA371338841 | CYP7B1 | c.163T>C (p.Tyr55His) c.229T>C (p.Tyr77His) | COSMIC |
| 8 | g.64624499A>T | CA371338835 | CYP7B1 | c.163T>A (p.Tyr55Asn) c.229T>A (p.Tyr77Asn) | |
| 8 | g.64624500A>C | CA461121084 | CYP7B1 | c.162T>G (p.Pro54=) c.228T>G (p.Pro76=) | |
| 8 | g.64624500A>G | CA461121086 | CYP7B1 | c.162T>C (p.Pro54=) c.228T>C (p.Pro76=) | |
| 8 | g.64624500A>T | CA461121087 | CYP7B1 | c.162T>A (p.Pro54=) c.228T>A (p.Pro76=) |