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.64615896dup | CA582454253 | CYP7B1 | c.650dup (p.Leu217PhefsTer4) c.716dup (p.Leu239PhefsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.64615894A= | CA1789664368 | CYP7B1 | c.647T= (p.Phe216=) c.713T= (p.Phe238=) | |
| 8 | g.64615894A>C | CA371335281 | CYP7B1 | c.647T>G (p.Phe216Cys) c.713T>G (p.Phe238Cys) | |
| 8 | g.64615894A>G | CA210943 | CYP7B1 | c.647T>C (p.Phe216Ser) c.713T>C (p.Phe238Ser) | ClinVar dbSNP |
| 8 | g.64615894A>T | CA371335282 | CYP7B1 | c.647T>A (p.Phe216Tyr) c.713T>A (p.Phe238Tyr) | |
| 8 | g.64615895A>C | CA371335283 | CYP7B1 | c.646T>G (p.Phe216Val) c.712T>G (p.Phe238Val) | COSMIC |
| 8 | g.64615895A>G | CA371335284 | CYP7B1 | c.646T>C (p.Phe216Leu) c.712T>C (p.Phe238Leu) | |
| 8 | g.64615895A>T | CA371335285 | CYP7B1 | c.646T>A (p.Phe216Ile) c.712T>A (p.Phe238Ile) | |
| 8 | g.64615896A= | CA1789664369 | CYP7B1 | c.645T= (p.Asp215=) c.711T= (p.Asp237=) | |
| 8 | g.64615896A>C | CA371335287 | CYP7B1 | c.645T>G (p.Asp215Glu) c.711T>G (p.Asp237Glu) | |
| 8 | g.64615896A>G | CA4764176 | CYP7B1 | c.645T>C (p.Asp215=) c.711T>C (p.Asp237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64615896A>T | CA371335286 | CYP7B1 | c.645T>A (p.Asp215Glu) c.711T>A (p.Asp237Glu) | |
| 8 | g.64615897T>A | CA371335288 | CYP7B1 | c.644A>T (p.Asp215Val) c.710A>T (p.Asp237Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64615897T>C | CA371335290 | CYP7B1 | c.644A>G (p.Asp215Gly) c.710A>G (p.Asp237Gly) | |
| 8 | g.64615897T>G | CA371335289 | CYP7B1 | c.644A>C (p.Asp215Ala) c.710A>C (p.Asp237Ala) | |
| 8 | g.64615897T= | CA1789664370 | CYP7B1 | c.644A= (p.Asp215=) c.710A= (p.Asp237=) | |
| 8 | g.64615898C>A | CA371335291 | CYP7B1 | c.643G>T (p.Asp215Tyr) c.709G>T (p.Asp237Tyr) | dbSNP |
| 8 | g.64615898C>G | CA371335292 | CYP7B1 | c.643G>C (p.Asp215His) c.709G>C (p.Asp237His) | |
| 8 | g.64615898C>T | CA371335293 | CYP7B1 | c.643G>A (p.Asp215Asn) c.709G>A (p.Asp237Asn) | COSMIC |
| 8 | g.64615899A>C | CA371335294 | CYP7B1 | c.642T>G (p.Asp214Glu) c.708T>G (p.Asp236Glu) | |
| 8 | g.64615899A>G | CA461420239 | CYP7B1 | c.642T>C (p.Asp214=) c.708T>C (p.Asp236=) | ClinVar gnomAD v4 |
| 8 | g.64615899A>T | CA371335295 | CYP7B1 | c.642T>A (p.Asp214Glu) c.708T>A (p.Asp236Glu) | |
| 8 | g.64615900T>A | CA371335296 | CYP7B1 | c.641A>T (p.Asp214Val) c.707A>T (p.Asp236Val) | |
| 8 | g.64615900T>C | CA4764177 | CYP7B1 | c.641A>G (p.Asp214Gly) c.707A>G (p.Asp236Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64615900T>G | CA371335297 | CYP7B1 | c.641A>C (p.Asp214Ala) c.707A>C (p.Asp236Ala) | |
| 8 | g.64615900T= | CA1789664371 | CYP7B1 | c.641A= (p.Asp214=) c.707A= (p.Asp236=) | |
| 8 | g.64615900_64615901insTTACAATAGA | CA2780623312 | CYP7B1 | c.640_641insTCTATTGTAA (p.Asp214ValfsTer5) c.706_707insTCTATTGTAA (p.Asp236ValfsTer5) | |
| 8 | g.64615901C>A | CA371335298 | CYP7B1 | c.640G>T (p.Asp214Tyr) c.706G>T (p.Asp236Tyr) | COSMIC |
| 8 | g.64615901C>G | CA371335299 | CYP7B1 | c.640G>C (p.Asp214His) c.706G>C (p.Asp236His) | COSMIC |
| 8 | g.64615901C>T | CA371335300 | CYP7B1 | c.640G>A (p.Asp214Asn) c.706G>A (p.Asp236Asn) | |
| 8 | g.64615902T>A | CA371335302 | CYP7B1 | c.639A>T (p.Arg213Ser) c.705A>T (p.Arg235Ser) | |
| 8 | g.64615902T>C | CA461420240 | CYP7B1 | c.639A>G (p.Arg213=) c.705A>G (p.Arg235=) | |
| 8 | g.64615902T>G | CA371335301 | CYP7B1 | c.639A>C (p.Arg213Ser) c.705A>C (p.Arg235Ser) | |
| 8 | g.64615903C>A | CA371335303 | CYP7B1 | c.638G>T (p.Arg213Ile) c.704G>T (p.Arg235Ile) | gnomAD v4 |
| 8 | g.64615903C= | CA1789664372 | CYP7B1 | c.638G= (p.Arg213=) c.704G= (p.Arg235=) | |
| 8 | g.64615903C>G | CA371335304 | CYP7B1 | c.638G>C (p.Arg213Thr) c.704G>C (p.Arg235Thr) | ClinVar dbSNP |
| 8 | g.64615903C>T | CA371335305 | CYP7B1 | c.638G>A (p.Arg213Lys) c.704G>A (p.Arg235Lys) | |
| 8 | g.64615904T>A | CA371335306 | CYP7B1 | c.637A>T (p.Arg213Ter) c.703A>T (p.Arg235Ter) | |
| 8 | g.64615904T>C | CA371335307 | CYP7B1 | c.637A>G (p.Arg213Gly) c.703A>G (p.Arg235Gly) | |
| 8 | g.64615904T>G | CA461420241 | CYP7B1 | c.637A>C (p.Arg213=) c.703A>C (p.Arg235=) | |
| 8 | g.64615905T>A | CA461420242 | CYP7B1 | c.636A>T (p.Leu212=) c.702A>T (p.Leu234=) | |
| 8 | g.64615905T>C | CA461420243 | CYP7B1 | c.636A>G (p.Leu212=) c.702A>G (p.Leu234=) | gnomAD v4 |
| 8 | g.64615905T>G | CA461420244 | CYP7B1 | c.636A>C (p.Leu212=) c.702A>C (p.Leu234=) | gnomAD v4 COSMIC |
| 8 | g.64615905_64615910delinsTAGCTC | CA1789664373 | CYP7B1 | c.631_636delinsGAGCTA (p.Glu211=) c.697_702delinsGAGCTA (p.Glu233=) | |
| 8 | g.64615906A= | CA1789664374 | CYP7B1 | c.635T= (p.Leu212=) c.701T= (p.Leu234=) | |
| 8 | g.64615906A>C | CA371335308 | CYP7B1 | c.635T>G (p.Leu212Arg) c.701T>G (p.Leu234Arg) | |
| 8 | g.64615906A>G | CA4764178 | CYP7B1 | c.635T>C (p.Leu212Pro) c.701T>C (p.Leu234Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64615906A>T | CA371335309 | CYP7B1 | c.635T>A (p.Leu212Gln) c.701T>A (p.Leu234Gln) | |
| 8 | g.64615907_64615911del | CA1139660589 | CYP7B1 | c.631_635del (p.Glu211LysfsTer3) c.697_701del (p.Glu233LysfsTer3) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64615907G>A | CA461420245 | CYP7B1 | c.634C>T (p.Leu212=) c.700C>T (p.Leu234=) | |
| 8 | g.64615907G>C | CA371335310 | CYP7B1 | c.634C>G (p.Leu212Val) c.700C>G (p.Leu234Val) | |
| 8 | g.64615907G>T | CA371335311 | CYP7B1 | c.634C>A (p.Leu212Ile) c.700C>A (p.Leu234Ile) | |
| 8 | g.64615907_64615911delinsGCTCA | CA1789664375 | CYP7B1 | c.630_634delinsTGAGC (p.Ser210=) c.696_700delinsTGAGC (p.Ser232=) | |
| 8 | g.64615908C>A | CA371335312 | CYP7B1 | c.633G>T (p.Glu211Asp) c.699G>T (p.Glu233Asp) | |
| 8 | g.64615908C>G | CA371335313 | CYP7B1 | c.633G>C (p.Glu211Asp) c.699G>C (p.Glu233Asp) | |
| 8 | g.64615908C>T | CA461420246 | CYP7B1 | c.633G>A (p.Glu211=) c.699G>A (p.Glu233=) | |
| 8 | g.64615910_64615913del | CA854269842 | CYP7B1 | c.630_633del (p.Glu211Ter) c.696_699del (p.Glu233Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64615909T>A | CA371335315 | CYP7B1 | c.632A>T (p.Glu211Val) c.698A>T (p.Glu233Val) | |
| 8 | g.64615909T>C | CA371335316 | CYP7B1 | c.632A>G (p.Glu211Gly) c.698A>G (p.Glu233Gly) | |
| 8 | g.64615909T>G | CA371335314 | CYP7B1 | c.632A>C (p.Glu211Ala) c.698A>C (p.Glu233Ala) | |
| 8 | g.64615910C>A | CA371335317 | CYP7B1 | c.631G>T (p.Glu211Ter) c.697G>T (p.Glu233Ter) | dbSNP gnomAD v2 COSMIC |
| 8 | g.64615910C= | CA1789664376 | CYP7B1 | c.631G= (p.Glu211=) c.697G= (p.Glu233=) | |
| 8 | g.64615910C>G | CA371335318 | CYP7B1 | c.631G>C (p.Glu211Gln) c.697G>C (p.Glu233Gln) | |
| 8 | g.64615910C>T | CA371335319 | CYP7B1 | c.631G>A (p.Glu211Lys) c.697G>A (p.Glu233Lys) | |
| 8 | g.64615911A>C | CA371335320 | CYP7B1 | c.630T>G (p.Ser210Arg) c.696T>G (p.Ser232Arg) | |
| 8 | g.64615911A>G | CA461420248 | CYP7B1 | c.630T>C (p.Ser210=) c.696T>C (p.Ser232=) | |
| 8 | g.64615911A>T | CA371335321 | CYP7B1 | c.630T>A (p.Ser210Arg) c.696T>A (p.Ser232Arg) | |
| 8 | g.64615912C>A | CA371335322 | CYP7B1 | c.629G>T (p.Ser210Ile) c.695G>T (p.Ser232Ile) | |
| 8 | g.64615912C= | CA1789664377 | CYP7B1 | c.629G= (p.Ser210=) c.695G= (p.Ser232=) | |
| 8 | g.64615912C>G | CA371335323 | CYP7B1 | c.629G>C (p.Ser210Thr) c.695G>C (p.Ser232Thr) | |
| 8 | g.64615912C>T | CA10607093 | CYP7B1 | c.629G>A (p.Ser210Asn) c.695G>A (p.Ser232Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64615912_64615913insA | CA582454259 | CYP7B1 | c.628_629insT (p.Ser210MetfsTer2) c.694_695insT (p.Ser232MetfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64615913T>A | CA371335324 | CYP7B1 | c.628A>T (p.Ser210Cys) c.694A>T (p.Ser232Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64615913T>C | CA371335325 | CYP7B1 | c.628A>G (p.Ser210Gly) c.694A>G (p.Ser232Gly) | |
| 8 | g.64615913T>G | CA371335326 | CYP7B1 | c.628A>C (p.Ser210Arg) c.694A>C (p.Ser232Arg) | |
| 8 | g.64615913T= | CA1789664378 | CYP7B1 | c.628A= (p.Ser210=) c.694A= (p.Ser232=) | |
| 8 | g.64615914A>C | CA371335327 | CYP7B1 | c.627T>G (p.Ile209Met) c.693T>G (p.Ile231Met) | |
| 8 | g.64615914A>G | CA461420249 | CYP7B1 | c.627T>C (p.Ile209=) c.693T>C (p.Ile231=) | |
| 8 | g.64615914A>T | CA461420250 | CYP7B1 | c.627T>A (p.Ile209=) c.693T>A (p.Ile231=) | |
| 8 | g.64615915A>C | CA371335329 | CYP7B1 | c.626T>G (p.Ile209Ser) c.692T>G (p.Ile231Ser) | |
| 8 | g.64615915A>G | CA371335330 | CYP7B1 | c.626T>C (p.Ile209Thr) c.692T>C (p.Ile231Thr) | |
| 8 | g.64615915A>T | CA371335328 | CYP7B1 | c.626T>A (p.Ile209Asn) c.692T>A (p.Ile231Asn) | |
| 8 | g.64615916T>A | CA371335331 | CYP7B1 | c.625A>T (p.Ile209Phe) c.691A>T (p.Ile231Phe) | |
| 8 | g.64615916T>C | CA371335332 | CYP7B1 | c.625A>G (p.Ile209Val) c.691A>G (p.Ile231Val) | gnomAD v4 |
| 8 | g.64615916T>G | CA371335333 | CYP7B1 | c.625A>C (p.Ile209Leu) c.691A>C (p.Ile231Leu) | |
| 8 | g.64615917A>C | CA371335334 | CYP7B1 | c.624T>G (p.Phe208Leu) c.690T>G (p.Phe230Leu) | |
| 8 | g.64615917A>G | CA461420251 | CYP7B1 | c.624T>C (p.Phe208=) c.690T>C (p.Phe230=) | |
| 8 | g.64615917A>T | CA371335335 | CYP7B1 | c.624T>A (p.Phe208Leu) c.690T>A (p.Phe230Leu) | |
| 8 | g.64615919del | CA2687454664 | CYP7B1 | c.624del (p.Phe208LeufsTer5) c.690del (p.Phe230LeufsTer5) | gnomAD v4 |
| 8 | g.64615918A>C | CA371335338 | CYP7B1 | c.623T>G (p.Phe208Cys) c.689T>G (p.Phe230Cys) | |
| 8 | g.64615918A>G | CA371335336 | CYP7B1 | c.623T>C (p.Phe208Ser) c.689T>C (p.Phe230Ser) | |
| 8 | g.64615918A>T | CA371335337 | CYP7B1 | c.623T>A (p.Phe208Tyr) c.689T>A (p.Phe230Tyr) | gnomAD v4 |
| 8 | g.64615919A= | CA1789664379 | CYP7B1 | c.622T= (p.Phe208=) c.688T= (p.Phe230=) | |
| 8 | g.64615919A>C | CA371335339 | CYP7B1 | c.622T>G (p.Phe208Val) c.688T>G (p.Phe230Val) | |
| 8 | g.64615919A>G | CA371335340 | CYP7B1 | c.622T>C (p.Phe208Leu) c.688T>C (p.Phe230Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64615919A>T | CA371335341 | CYP7B1 | c.622T>A (p.Phe208Ile) c.688T>A (p.Phe230Ile) | |
| 8 | g.64615920T>A | CA371335342 | CYP7B1 | c.621A>T (p.Lys207Asn) c.687A>T (p.Lys229Asn) | |
| 8 | g.64615920T>C | CA461420252 | CYP7B1 | c.621A>G (p.Lys207=) c.687A>G (p.Lys229=) | |
| 8 | g.64615920T>G | CA371335343 | CYP7B1 | c.621A>C (p.Lys207Asn) c.687A>C (p.Lys229Asn) | |
| 8 | g.64615920_64615923delinsTTTG | CA1789664380 | CYP7B1 | c.618_621delinsCAAA (p.Asn206=) c.684_687delinsCAAA (p.Asn228=) | |
| 8 | g.64615921T>A | CA371335345 | CYP7B1 | c.620A>T (p.Lys207Ile) c.686A>T (p.Lys229Ile) | |
| 8 | g.64615921T>C | CA371335344 | CYP7B1 | c.620A>G (p.Lys207Arg) c.686A>G (p.Lys229Arg) | dbSNP |
| 8 | g.64615921T>G | CA371335346 | CYP7B1 | c.620A>C (p.Lys207Thr) c.686A>C (p.Lys229Thr) | gnomAD v4 COSMIC |
| 8 | g.64615921T= | CA1789664381 | CYP7B1 | c.620A= (p.Lys207=) c.686A= (p.Lys229=) | |
| 8 | g.64615928_64615930del | CA4764179 | CYP7B1 | c.618_620del (p.Asn206del) c.684_686del (p.Asn228del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64615922T>A | CA371335347 | CYP7B1 | c.619A>T (p.Lys207Ter) c.685A>T (p.Lys229Ter) | |
| 8 | g.64615922T>C | CA338576 | CYP7B1 | c.619A>G (p.Lys207Glu) c.685A>G (p.Lys229Glu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64615922T>G | CA371335348 | CYP7B1 | c.619A>C (p.Lys207Gln) c.685A>C (p.Lys229Gln) | |
| 8 | g.64615922T= | CA1789664382 | CYP7B1 | c.619A= (p.Lys207=) c.685A= (p.Lys229=) | |
| 8 | g.64615923G>A | CA461420253 | CYP7B1 | c.618C>T (p.Asn206=) c.684C>T (p.Asn228=) | ClinVar dbSNP |
| 8 | g.64615923G>C | CA371335349 | CYP7B1 | c.618C>G (p.Asn206Lys) c.684C>G (p.Asn228Lys) | gnomAD v4 |
| 8 | g.64615923G>T | CA371335350 | CYP7B1 | c.618C>A (p.Asn206Lys) c.684C>A (p.Asn228Lys) | |
| 8 | g.64615924T>A | CA371335351 | CYP7B1 | c.617A>T (p.Asn206Ile) c.683A>T (p.Asn228Ile) | |
| 8 | g.64615924T>C | CA371335352 | CYP7B1 | c.617A>G (p.Asn206Ser) c.683A>G (p.Asn228Ser) | gnomAD v4 |
| 8 | g.64615924T>G | CA371335353 | CYP7B1 | c.617A>C (p.Asn206Thr) c.683A>C (p.Asn228Thr) | |
| 8 | g.64615925T>A | CA371335354 | CYP7B1 | c.616A>T (p.Asn206Tyr) c.682A>T (p.Asn228Tyr) | |
| 8 | g.64615925T>C | CA371335355 | CYP7B1 | c.616A>G (p.Asn206Asp) c.682A>G (p.Asn228Asp) | |
| 8 | g.64615925T>G | CA371335356 | CYP7B1 | c.616A>C (p.Asn206His) c.682A>C (p.Asn228His) | |
| 8 | g.64615926G>A | CA461420254 | CYP7B1 | c.615C>T (p.Asn205=) c.681C>T (p.Asn227=) | |
| 8 | g.64615926G>C | CA371335357 | CYP7B1 | c.615C>G (p.Asn205Lys) c.681C>G (p.Asn227Lys) | |
| 8 | g.64615926G>T | CA371335358 | CYP7B1 | c.615C>A (p.Asn205Lys) c.681C>A (p.Asn227Lys) | |
| 8 | g.64615927T>A | CA371335359 | CYP7B1 | c.614A>T (p.Asn205Ile) c.680A>T (p.Asn227Ile) | |
| 8 | g.64615927T>C | CA178389637 | CYP7B1 | c.614A>G (p.Asn205Ser) c.680A>G (p.Asn227Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64615927T>G | CA371335360 | CYP7B1 | c.614A>C (p.Asn205Thr) c.680A>C (p.Asn227Thr) | |
| 8 | g.64615927T= | CA1789664383 | CYP7B1 | c.614A= (p.Asn205=) c.680A= (p.Asn227=) | |
| 8 | g.64615928T>A | CA371335361 | CYP7B1 | c.613A>T (p.Asn205Tyr) c.679A>T (p.Asn227Tyr) | |
| 8 | g.64615928T>C | CA371335362 | CYP7B1 | c.613A>G (p.Asn205Asp) c.679A>G (p.Asn227Asp) | gnomAD v4 |
| 8 | g.64615928T>G | CA178389639 | CYP7B1 | c.613A>C (p.Asn205His) c.679A>C (p.Asn227His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64615928T= | CA1789664384 | CYP7B1 | c.613A= (p.Asn205=) c.679A= (p.Asn227=) | |
| 8 | g.64615929G>A | CA461420255 | CYP7B1 | c.612C>T (p.Asp204=) c.678C>T (p.Asp226=) | gnomAD v4 |
| 8 | g.64615929G>C | CA371335363 | CYP7B1 | c.612C>G (p.Asp204Glu) c.678C>G (p.Asp226Glu) | |
| 8 | g.64615929G>T | CA371335364 | CYP7B1 | c.612C>A (p.Asp204Glu) c.678C>A (p.Asp226Glu) | COSMIC |
| 8 | g.64615930T>A | CA371335365 | CYP7B1 | c.611A>T (p.Asp204Val) c.677A>T (p.Asp226Val) | |
| 8 | g.64615930T>C | CA371335366 | CYP7B1 | c.611A>G (p.Asp204Gly) c.677A>G (p.Asp226Gly) | |
| 8 | g.64615930T>G | CA371335367 | CYP7B1 | c.611A>C (p.Asp204Ala) c.677A>C (p.Asp226Ala) | |
| 8 | g.64615930dup | CA2687454665 | CYP7B1 | c.611dup (p.Asp204GlufsTer7) c.677dup (p.Asp226GlufsTer7) | gnomAD v4 |
| 8 | g.64615931C>A | CA371335368 | CYP7B1 | c.610G>T (p.Asp204Tyr) c.676G>T (p.Asp226Tyr) | |
| 8 | g.64615931C>G | CA371335369 | CYP7B1 | c.610G>C (p.Asp204His) c.676G>C (p.Asp226His) | |
| 8 | g.64615931C>T | CA371335370 | CYP7B1 | c.610G>A (p.Asp204Asn) c.676G>A (p.Asp226Asn) | |
| 8 | g.64615932A>C | CA371335371 | CYP7B1 | c.609T>G (p.Cys203Trp) c.675T>G (p.Cys225Trp) | |
| 8 | g.64615932A>G | CA461420256 | CYP7B1 | c.609T>C (p.Cys203=) c.675T>C (p.Cys225=) | |
| 8 | g.64615932A>T | CA371335372 | CYP7B1 | c.609T>A (p.Cys203Ter) c.675T>A (p.Cys225Ter) | |
| 8 | g.64615933C>A | CA371335374 | CYP7B1 | c.608G>T (p.Cys203Phe) c.674G>T (p.Cys225Phe) | |
| 8 | g.64615933C= | CA1789664385 | CYP7B1 | c.608G= (p.Cys203=) c.674G= (p.Cys225=) | |
| 8 | g.64615933C>G | CA371335373 | CYP7B1 | c.608G>C (p.Cys203Ser) c.674G>C (p.Cys225Ser) | |
| 8 | g.64615933C>T | CA4764180 | CYP7B1 | c.608G>A (p.Cys203Tyr) c.674G>A (p.Cys225Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64615934A>C | CA371335375 | CYP7B1 | c.607T>G (p.Cys203Gly) c.673T>G (p.Cys225Gly) | |
| 8 | g.64615934A>G | CA371335376 | CYP7B1 | c.607T>C (p.Cys203Arg) c.673T>C (p.Cys225Arg) | |
| 8 | g.64615934A>T | CA371335377 | CYP7B1 | c.607T>A (p.Cys203Ser) c.673T>A (p.Cys225Ser) | |
| 8 | g.64615935A>C | CA461420257 | CYP7B1 | c.606T>G (p.Val202=) c.672T>G (p.Val224=) | |
| 8 | g.64615935A>G | CA461420259 | CYP7B1 | c.606T>C (p.Val202=) c.672T>C (p.Val224=) | |
| 8 | g.64615935A>T | CA461420258 | CYP7B1 | c.606T>A (p.Val202=) c.672T>A (p.Val224=) | |
| 8 | g.64615936A>C | CA371335378 | CYP7B1 | c.605T>G (p.Val202Gly) c.671T>G (p.Val224Gly) | |
| 8 | g.64615936A>G | CA371335379 | CYP7B1 | c.605T>C (p.Val202Ala) c.671T>C (p.Val224Ala) | |
| 8 | g.64615936A>T | CA371335380 | CYP7B1 | c.605T>A (p.Val202Asp) c.671T>A (p.Val224Asp) | |
| 8 | g.64615937C>A | CA371335381 | CYP7B1 | c.604G>T (p.Val202Phe) c.670G>T (p.Val224Phe) | gnomAD v4 |
| 8 | g.64615937C>G | CA371335382 | CYP7B1 | c.604G>C (p.Val202Leu) c.670G>C (p.Val224Leu) | |
| 8 | g.64615937C>T | CA371335383 | CYP7B1 | c.604G>A (p.Val202Ile) c.670G>A (p.Val224Ile) | |
| 8 | g.64615938A>C | CA371335384 | CYP7B1 | c.603T>G (p.Ile201Met) c.669T>G (p.Ile223Met) | |
| 8 | g.64615938A>G | CA461420260 | CYP7B1 | c.603T>C (p.Ile201=) c.669T>C (p.Ile223=) | |
| 8 | g.64615938A>T | CA461420261 | CYP7B1 | c.603T>A (p.Ile201=) c.669T>A (p.Ile223=) | |
| 8 | g.64615939A= | CA1789664386 | CYP7B1 | c.602T= (p.Ile201=) c.668T= (p.Ile223=) | |
| 8 | g.64615939A>C | CA371335385 | CYP7B1 | c.602T>G (p.Ile201Ser) c.668T>G (p.Ile223Ser) | dbSNP |
| 8 | g.64615939A>G | CA371335386 | CYP7B1 | c.602T>C (p.Ile201Thr) c.668T>C (p.Ile223Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64615939A>T | CA371335387 | CYP7B1 | c.602T>A (p.Ile201Asn) c.668T>A (p.Ile223Asn) | |
| 8 | g.64615940T>A | CA371335388 | CYP7B1 | c.601A>T (p.Ile201Phe) c.667A>T (p.Ile223Phe) | |
| 8 | g.64615940T>C | CA4764181 | CYP7B1 | c.601A>G (p.Ile201Val) c.667A>G (p.Ile223Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.64615940T>G | CA371335389 | CYP7B1 | c.601A>C (p.Ile201Leu) c.667A>C (p.Ile223Leu) | |
| 8 | g.64615940T= | CA1789664387 | CYP7B1 | c.601A= (p.Ile201=) c.667A= (p.Ile223=) | |
| 8 | g.64615941A>C | CA461420262 | CYP7B1 | c.600T>G (p.Val200=) c.666T>G (p.Val222=) | |
| 8 | g.64615941A>G | CA461420263 | CYP7B1 | c.600T>C (p.Val200=) c.666T>C (p.Val222=) | |
| 8 | g.64615941A>T | CA461420264 | CYP7B1 | c.600T>A (p.Val200=) c.666T>A (p.Val222=) | |
| 8 | g.64615942A>C | CA371335390 | CYP7B1 | c.599T>G (p.Val200Gly) c.665T>G (p.Val222Gly) | |
| 8 | g.64615942A>G | CA371335391 | CYP7B1 | c.599T>C (p.Val200Ala) c.665T>C (p.Val222Ala) | |
| 8 | g.64615942A>T | CA371335392 | CYP7B1 | c.599T>A (p.Val200Asp) c.665T>A (p.Val222Asp) | |
| 8 | g.64615943del | CA2687454666 | CYP7B1 | c.598del (p.Val200LeufsTer13) c.664del (p.Val222LeufsTer13) | gnomAD v4 |
| 8 | g.64615943C>A | CA371335393 | CYP7B1 | c.598G>T (p.Val200Phe) c.664G>T (p.Val222Phe) | |
| 8 | g.64615943C= | CA1789664388 | CYP7B1 | c.598G= (p.Val200=) c.664G= (p.Val222=) | |
| 8 | g.64615943C>G | CA371335394 | CYP7B1 | c.598G>C (p.Val200Leu) c.664G>C (p.Val222Leu) | |
| 8 | g.64615943C>T | CA4764182 | CYP7B1 | c.598G>A (p.Val200Ile) c.664G>A (p.Val222Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.64615944T>A | CA371335395 | CYP7B1 | c.597A>T (p.Lys199Asn) c.663A>T (p.Lys221Asn) | |
| 8 | g.64615944T>C | CA461420265 | CYP7B1 | c.597A>G (p.Lys199=) c.663A>G (p.Lys221=) | COSMIC |
| 8 | g.64615944T>G | CA371335396 | CYP7B1 | c.597A>C (p.Lys199Asn) c.663A>C (p.Lys221Asn) | dbSNP |
| 8 | g.64615944T= | CA1789664389 | CYP7B1 | c.597A= (p.Lys199=) c.663A= (p.Lys221=) | |
| 8 | g.64615945T>A | CA371335397 | CYP7B1 | c.596A>T (p.Lys199Ile) c.662A>T (p.Lys221Ile) | |
| 8 | g.64615945T>C | CA371335398 | CYP7B1 | c.596A>G (p.Lys199Arg) c.662A>G (p.Lys221Arg) | COSMIC |
| 8 | g.64615945T>G | CA371335399 | CYP7B1 | c.596A>C (p.Lys199Thr) c.662A>C (p.Lys221Thr) | |
| 8 | g.64615946T>A | CA371335401 | CYP7B1 | c.595A>T (p.Lys199Ter) c.661A>T (p.Lys221Ter) | |
| 8 | g.64615946T>C | CA371335402 | CYP7B1 | c.595A>G (p.Lys199Glu) c.661A>G (p.Lys221Glu) | gnomAD v4 |
| 8 | g.64615946T>G | CA371335400 | CYP7B1 | c.595A>C (p.Lys199Gln) c.661A>C (p.Lys221Gln) | |
| 8 | g.64615947T>A | CA461420266 | CYP7B1 | c.594A>T (p.Gly198=) c.660A>T (p.Gly220=) | |
| 8 | g.64615947T>C | CA461420267 | CYP7B1 | c.594A>G (p.Gly198=) c.660A>G (p.Gly220=) | |
| 8 | g.64615947T>G | CA461420268 | CYP7B1 | c.594A>C (p.Gly198=) c.660A>C (p.Gly220=) | |
| 8 | g.64615948C>A | CA371335405 | CYP7B1 | c.593G>T (p.Gly198Val) c.659G>T (p.Gly220Val) | |
| 8 | g.64615948C>G | CA371335403 | CYP7B1 | c.593G>C (p.Gly198Ala) c.659G>C (p.Gly220Ala) | |
| 8 | g.64615948C>T | CA371335404 | CYP7B1 | c.593G>A (p.Gly198Glu) c.659G>A (p.Gly220Glu) | COSMIC |
| 8 | g.64615949C>A | CA371335406 | CYP7B1 | c.592G>T (p.Gly198Ter) c.658G>T (p.Gly220Ter) | |
| 8 | g.64615949C= | CA1789664390 | CYP7B1 | c.592G= (p.Gly198=) c.658G= (p.Gly220=) | |
| 8 | g.64615949C>G | CA371335407 | CYP7B1 | c.592G>C (p.Gly198Arg) c.658G>C (p.Gly220Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64615949C>T | CA371335408 | CYP7B1 | c.592G>A (p.Gly198Arg) c.658G>A (p.Gly220Arg) | gnomAD v4 |
| 8 | g.64615950A= | CA1789664391 | CYP7B1 | c.591T= (p.Tyr197=) c.657T= (p.Tyr219=) | |
| 8 | g.64615950A>C | CA371335409 | CYP7B1 | c.591T>G (p.Tyr197Ter) c.657T>G (p.Tyr219Ter) | |
| 8 | g.64615950A>G | CA4764183 | CYP7B1 | c.591T>C (p.Tyr197=) c.657T>C (p.Tyr219=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64615950A>T | CA371335410 | CYP7B1 | c.591T>A (p.Tyr197Ter) c.657T>A (p.Tyr219Ter) | |
| 8 | g.64615955_64615956dup | CA645556229 | CYP7B1 | c.590_591dup (p.Gly198MetfsTer16) c.656_657dup (p.Gly220MetfsTer16) | COSMIC |
| 8 | g.64615951T>A | CA371335411 | CYP7B1 | c.590A>T (p.Tyr197Phe) c.656A>T (p.Tyr219Phe) | |
| 8 | g.64615951T>C | CA371335412 | CYP7B1 | c.590A>G (p.Tyr197Cys) c.656A>G (p.Tyr219Cys) | gnomAD v4 |
| 8 | g.64615951T>G | CA371335413 | CYP7B1 | c.590A>C (p.Tyr197Ser) c.656A>C (p.Tyr219Ser) | |
| 8 | g.64615952A>C | CA371335414 | CYP7B1 | c.589T>G (p.Tyr197Asp) c.655T>G (p.Tyr219Asp) | gnomAD v4 |
| 8 | g.64615952A>G | CA371335415 | CYP7B1 | c.589T>C (p.Tyr197His) c.655T>C (p.Tyr219His) | |
| 8 | g.64615952A>T | CA371335416 | CYP7B1 | c.589T>A (p.Tyr197Asn) c.655T>A (p.Tyr219Asn) | |
| 8 | g.64615953T>A | CA461420269 | CYP7B1 | c.588A>T (p.Ile196=) c.654A>T (p.Ile218=) | gnomAD v4 |
| 8 | g.64615953T>C | CA371335417 | CYP7B1 | c.588A>G (p.Ile196Met) c.654A>G (p.Ile218Met) | |
| 8 | g.64615953T>G | CA461420270 | CYP7B1 | c.588A>C (p.Ile196=) c.654A>C (p.Ile218=) | |
| 8 | g.64615954A= | CA1789664392 | CYP7B1 | c.587T= (p.Ile196=) c.653T= (p.Ile218=) | |
| 8 | g.64615954A>C | CA371335418 | CYP7B1 | c.587T>G (p.Ile196Arg) c.653T>G (p.Ile218Arg) | |
| 8 | g.64615954A>G | CA371335419 | CYP7B1 | c.587T>C (p.Ile196Thr) c.653T>C (p.Ile218Thr) | dbSNP gnomAD v4 |
| 8 | g.64615954A>T | CA371335420 | CYP7B1 | c.587T>A (p.Ile196Lys) c.653T>A (p.Ile218Lys) | |
| 8 | g.64615955T>A | CA371335421 | CYP7B1 | c.586A>T (p.Ile196Leu) c.652A>T (p.Ile218Leu) | |
| 8 | g.64615955T>C | CA371335422 | CYP7B1 | c.586A>G (p.Ile196Val) c.652A>G (p.Ile218Val) | gnomAD v4 |
| 8 | g.64615955T>G | CA371335423 | CYP7B1 | c.586A>C (p.Ile196Leu) c.652A>C (p.Ile218Leu) | |
| 8 | g.64615956A= | CA1789664393 | CYP7B1 | c.585T= (p.Thr195=) c.651T= (p.Thr217=) | |
| 8 | g.64615956A>C | CA461420271 | CYP7B1 | c.585T>G (p.Thr195=) c.651T>G (p.Thr217=) | |
| 8 | g.64615956A>G | CA461420272 | CYP7B1 | c.585T>C (p.Thr195=) c.651T>C (p.Thr217=) | |
| 8 | g.64615956A>T | CA4764184 | CYP7B1 | c.585T>A (p.Thr195=) c.651T>A (p.Thr217=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.64615957G>A | CA371335424 | CYP7B1 | c.584C>T (p.Thr195Ile) c.650C>T (p.Thr217Ile) | |
| 8 | g.64615957G>C | CA371335425 | CYP7B1 | c.584C>G (p.Thr195Ser) c.650C>G (p.Thr217Ser) | |
| 8 | g.64615957G>T | CA371335426 | CYP7B1 | c.584C>A (p.Thr195Asn) c.650C>A (p.Thr217Asn) | |
| 8 | g.64615958T>A | CA371335427 | CYP7B1 | c.583A>T (p.Thr195Ser) c.649A>T (p.Thr217Ser) | |
| 8 | g.64615958T>C | CA371335428 | CYP7B1 | c.583A>G (p.Thr195Ala) c.649A>G (p.Thr217Ala) | gnomAD v4 |
| 8 | g.64615958T>G | CA371335429 | CYP7B1 | c.583A>C (p.Thr195Pro) c.649A>C (p.Thr217Pro) | |
| 8 | g.64615959T>A | CA461420273 | CYP7B1 | c.582A>T (p.Thr194=) c.648A>T (p.Thr216=) | |
| 8 | g.64615959T>C | CA461420274 | CYP7B1 | c.582A>G (p.Thr194=) c.648A>G (p.Thr216=) | |
| 8 | g.64615959T>G | CA461420275 | CYP7B1 | c.582A>C (p.Thr194=) c.648A>C (p.Thr216=) | |
| 8 | g.64615960G>A | CA371335432 | CYP7B1 | c.581C>T (p.Thr194Ile) c.647C>T (p.Thr216Ile) | |
| 8 | g.64615960G>C | CA371335431 | CYP7B1 | c.581C>G (p.Thr194Arg) c.647C>G (p.Thr216Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64615960G= | CA1789664394 | CYP7B1 | c.581C= (p.Thr194=) c.647C= (p.Thr216=) | |
| 8 | g.64615960G>T | CA371335430 | CYP7B1 | c.581C>A (p.Thr194Lys) c.647C>A (p.Thr216Lys) | |
| 8 | g.64615961T>A | CA371335433 | CYP7B1 | c.580A>T (p.Thr194Ser) c.646A>T (p.Thr216Ser) | |
| 8 | g.64615961T>C | CA371335434 | CYP7B1 | c.580A>G (p.Thr194Ala) c.646A>G (p.Thr216Ala) | |
| 8 | g.64615961T>G | CA371335435 | CYP7B1 | c.580A>C (p.Thr194Pro) c.646A>C (p.Thr216Pro) | |
| 8 | g.64615962A>C | CA371335436 | CYP7B1 | c.579T>G (p.Phe193Leu) c.645T>G (p.Phe215Leu) | |
| 8 | g.64615962A>G | CA461420276 | CYP7B1 | c.579T>C (p.Phe193=) c.645T>C (p.Phe215=) | |
| 8 | g.64615962A>T | CA371335437 | CYP7B1 | c.579T>A (p.Phe193Leu) c.645T>A (p.Phe215Leu) | |
| 8 | g.64615963A>C | CA371335440 | CYP7B1 | c.578T>G (p.Phe193Cys) c.644T>G (p.Phe215Cys) | gnomAD v4 |
| 8 | g.64615963A>G | CA371335439 | CYP7B1 | c.578T>C (p.Phe193Ser) c.644T>C (p.Phe215Ser) | |
| 8 | g.64615963A>T | CA371335438 | CYP7B1 | c.578T>A (p.Phe193Tyr) c.644T>A (p.Phe215Tyr) | |
| 8 | g.64615964A= | CA1789664395 | CYP7B1 | c.577T= (p.Phe193=) c.643T= (p.Phe215=) | |
| 8 | g.64615964A>C | CA4764185 | CYP7B1 | c.577T>G (p.Phe193Val) c.643T>G (p.Phe215Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64615964A>G | CA178389659 | CYP7B1 | c.577T>C (p.Phe193Leu) c.643T>C (p.Phe215Leu) | dbSNP |
| 8 | g.64615964A>T | CA371335441 | CYP7B1 | c.577T>A (p.Phe193Ile) c.643T>A (p.Phe215Ile) | |
| 8 | g.64615965T>A | CA461420277 | CYP7B1 | c.576A>T (p.Thr192=) c.642A>T (p.Thr214=) | |
| 8 | g.64615965T>C | CA461420278 | CYP7B1 | c.576A>G (p.Thr192=) c.642A>G (p.Thr214=) | |
| 8 | g.64615965T>G | CA461420279 | CYP7B1 | c.576A>C (p.Thr192=) c.642A>C (p.Thr214=) | |
| 8 | g.64615966G>A | CA371335442 | CYP7B1 | c.575C>T (p.Thr192Ile) c.641C>T (p.Thr214Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64615966G>C | CA371335443 | CYP7B1 | c.575C>G (p.Thr192Arg) c.641C>G (p.Thr214Arg) | |
| 8 | g.64615966G= | CA1789664396 | CYP7B1 | c.575C= (p.Thr192=) c.641C= (p.Thr214=) | |
| 8 | g.64615966G>T | CA371335444 | CYP7B1 | c.575C>A (p.Thr192Lys) c.641C>A (p.Thr214Lys) | |
| 8 | g.64615967T>A | CA371335445 | CYP7B1 | c.574A>T (p.Thr192Ser) c.640A>T (p.Thr214Ser) | |
| 8 | g.64615967T>C | CA371335447 | CYP7B1 | c.574A>G (p.Thr192Ala) c.640A>G (p.Thr214Ala) | |
| 8 | g.64615967T>G | CA371335446 | CYP7B1 | c.574A>C (p.Thr192Pro) c.640A>C (p.Thr214Pro) | gnomAD v4 |
| 8 | g.64615968G>A | CA461420280 | CYP7B1 | c.573C>T (p.Ile191=) c.639C>T (p.Ile213=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64615968G>C | CA371335448 | CYP7B1 | c.573C>G (p.Ile191Met) c.639C>G (p.Ile213Met) | |
| 8 | g.64615968G= | CA1789664397 | CYP7B1 | c.573C= (p.Ile191=) c.639C= (p.Ile213=) | |
| 8 | g.64615968G>T | CA461420281 | CYP7B1 | c.573C>A (p.Ile191=) c.639C>A (p.Ile213=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64615969A= | CA1789664398 | CYP7B1 | c.572T= (p.Ile191=) c.638T= (p.Ile213=) | |
| 8 | g.64615969A>C | CA371335449 | CYP7B1 | c.572T>G (p.Ile191Ser) c.638T>G (p.Ile213Ser) | |
| 8 | g.64615969A>G | CA371335450 | CYP7B1 | c.572T>C (p.Ile191Thr) c.638T>C (p.Ile213Thr) | |
| 8 | g.64615969A>T | CA178389663 | CYP7B1 | c.572T>A (p.Ile191Asn) c.638T>A (p.Ile213Asn) | dbSNP gnomAD v4 |
| 8 | g.64615970T>A | CA371335451 | CYP7B1 | c.571A>T (p.Ile191Phe) c.637A>T (p.Ile213Phe) | |
| 8 | g.64615970T>C | CA371335452 | CYP7B1 | c.571A>G (p.Ile191Val) c.637A>G (p.Ile213Val) | |
| 8 | g.64615970T>G | CA371335453 | CYP7B1 | c.571A>C (p.Ile191Leu) c.637A>C (p.Ile213Leu) | |
| 8 | g.64615971C>A | CA371335454 | CYP7B1 | c.570G>T (p.Glu190Asp) c.636G>T (p.Glu212Asp) | |
| 8 | g.64615971C>G | CA371335455 | CYP7B1 | c.570G>C (p.Glu190Asp) c.636G>C (p.Glu212Asp) | |
| 8 | g.64615971C>T | CA461420282 | CYP7B1 | c.570G>A (p.Glu190=) c.636G>A (p.Glu212=) | gnomAD v4 |
| 8 | g.64615972T>A | CA371335456 | CYP7B1 | c.569A>T (p.Glu190Val) c.635A>T (p.Glu212Val) | |
| 8 | g.64615972T>C | CA371335457 | CYP7B1 | c.569A>G (p.Glu190Gly) c.635A>G (p.Glu212Gly) | |
| 8 | g.64615972T>G | CA371335458 | CYP7B1 | c.569A>C (p.Glu190Ala) c.635A>C (p.Glu212Ala) | |
| 8 | g.64615973C>A | CA371335460 | CYP7B1 | c.568G>T (p.Glu190Ter) c.634G>T (p.Glu212Ter) | |
| 8 | g.64615973C= | CA1789664399 | CYP7B1 | c.568G= (p.Glu190=) c.634G= (p.Glu212=) | |
| 8 | g.64615973C>G | CA371335461 | CYP7B1 | c.568G>C (p.Glu190Gln) c.634G>C (p.Glu212Gln) | |
| 8 | g.64615973C>T | CA371335459 | CYP7B1 | c.568G>A (p.Glu190Lys) c.634G>A (p.Glu212Lys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.64615974A>C | CA371335462 | CYP7B1 | c.567T>G (p.Phe189Leu) c.633T>G (p.Phe211Leu) | |
| 8 | g.64615974A>G | CA461420283 | CYP7B1 | c.567T>C (p.Phe189=) c.633T>C (p.Phe211=) | |
| 8 | g.64615974A>T | CA371335463 | CYP7B1 | c.567T>A (p.Phe189Leu) c.633T>A (p.Phe211Leu) | |
| 8 | g.64615975A= | CA1789664400 | CYP7B1 | c.566T= (p.Phe189=) c.632T= (p.Phe211=) | |
| 8 | g.64615975A>C | CA371335464 | CYP7B1 | c.566T>G (p.Phe189Cys) c.632T>G (p.Phe211Cys) | |
| 8 | g.64615975A>G | CA371335466 | CYP7B1 | c.566T>C (p.Phe189Ser) c.632T>C (p.Phe211Ser) | dbSNP gnomAD v4 |
| 8 | g.64615975A>T | CA371335465 | CYP7B1 | c.566T>A (p.Phe189Tyr) c.632T>A (p.Phe211Tyr) | |
| 8 | g.64615976A>C | CA371335467 | CYP7B1 | c.565T>G (p.Phe189Val) c.631T>G (p.Phe211Val) | |
| 8 | g.64615976A>G | CA371335468 | CYP7B1 | c.565T>C (p.Phe189Leu) c.631T>C (p.Phe211Leu) | |
| 8 | g.64615976A>T | CA371335469 | CYP7B1 | c.565T>A (p.Phe189Ile) c.631T>A (p.Phe211Ile) | |
| 8 | g.64615977T>A | CA461420284 | CYP7B1 | c.564A>T (p.Ile188=) c.630A>T (p.Ile210=) | |
| 8 | g.64615977T>C | CA371335470 | CYP7B1 | c.564A>G (p.Ile188Met) c.630A>G (p.Ile210Met) | |
| 8 | g.64615977T>G | CA461420285 | CYP7B1 | c.564A>C (p.Ile188=) c.630A>C (p.Ile210=) | |
| 8 | g.64615978A= | CA1789664401 | CYP7B1 | c.563T= (p.Ile188=) c.629T= (p.Ile210=) | |
| 8 | g.64615978A>C | CA371335471 | CYP7B1 | c.563T>G (p.Ile188Arg) c.629T>G (p.Ile210Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.64615978A>G | CA371335472 | CYP7B1 | c.563T>C (p.Ile188Thr) c.629T>C (p.Ile210Thr) | |
| 8 | g.64615978A>T | CA371335473 | CYP7B1 | c.563T>A (p.Ile188Lys) c.629T>A (p.Ile210Lys) | |
| 8 | g.64615979T>A | CA371335474 | CYP7B1 | c.562A>T (p.Ile188Leu) c.628A>T (p.Ile210Leu) | |
| 8 | g.64615979T>C | CA371335476 | CYP7B1 | c.562A>G (p.Ile188Val) c.628A>G (p.Ile210Val) | dbSNP gnomAD v4 |
| 8 | g.64615979T>G | CA371335475 | CYP7B1 | c.562A>C (p.Ile188Leu) c.628A>C (p.Ile210Leu) | |
| 8 | g.64615979T= | CA1789664402 | CYP7B1 | c.562A= (p.Ile188=) c.628A= (p.Ile210=) | |
| 8 | g.64615980T>A | CA461420286 | CYP7B1 | c.561A>T (p.Ile187=) c.627A>T (p.Ile209=) | |
| 8 | g.64615980T>C | CA371335477 | CYP7B1 | c.561A>G (p.Ile187Met) c.627A>G (p.Ile209Met) | |
| 8 | g.64615980T>G | CA461420287 | CYP7B1 | c.561A>C (p.Ile187=) c.627A>C (p.Ile209=) | |
| 8 | g.64615981A= | CA1789664403 | CYP7B1 | c.560T= (p.Ile187=) c.626T= (p.Ile209=) | |
| 8 | g.64615981A>C | CA371335478 | CYP7B1 | c.560T>G (p.Ile187Arg) c.626T>G (p.Ile209Arg) | gnomAD v4 |
| 8 | g.64615981A>G | CA371335479 | CYP7B1 | c.560T>C (p.Ile187Thr) c.626T>C (p.Ile209Thr) | dbSNP |
| 8 | g.64615981A>T | CA371335480 | CYP7B1 | c.560T>A (p.Ile187Lys) c.626T>A (p.Ile209Lys) | |
| 8 | g.64615982T>A | CA371335481 | CYP7B1 | c.559A>T (p.Ile187Leu) c.625A>T (p.Ile209Leu) | |
| 8 | g.64615982T>C | CA4764186 | CYP7B1 | c.559A>G (p.Ile187Val) c.625A>G (p.Ile209Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.64615982T>G | CA371335482 | CYP7B1 | c.559A>C (p.Ile187Leu) c.625A>C (p.Ile209Leu) | |
| 8 | g.64615982T= | CA1789664404 | CYP7B1 | c.559A= (p.Ile187=) c.625A= (p.Ile209=) | |
| 8 | g.64615983T>A | CA461420288 | CYP7B1 | c.558A>T (p.Ser186=) c.624A>T (p.Ser208=) | |
| 8 | g.64615983T>C | CA461420290 | CYP7B1 | c.558A>G (p.Ser186=) c.624A>G (p.Ser208=) | |
| 8 | g.64615983T>G | CA461420289 | CYP7B1 | c.558A>C (p.Ser186=) c.624A>C (p.Ser208=) | |
| 8 | g.64615984G>A | CA371335483 | CYP7B1 | c.557C>T (p.Ser186Leu) c.623C>T (p.Ser208Leu) | |
| 8 | g.64615984G>C | CA371335484 | CYP7B1 | c.557C>G (p.Ser186Ter) c.623C>G (p.Ser208Ter) | |
| 8 | g.64615984G>T | CA371335485 | CYP7B1 | c.557C>A (p.Ser186Ter) c.623C>A (p.Ser208Ter) | |
| 8 | g.64615985A>C | CA371335486 | CYP7B1 | c.556T>G (p.Ser186Ala) c.622T>G (p.Ser208Ala) | COSMIC |
| 8 | g.64615985A>G | CA371335487 | CYP7B1 | c.556T>C (p.Ser186Pro) c.622T>C (p.Ser208Pro) | |
| 8 | g.64615985A>T | CA371335488 | CYP7B1 | c.556T>A (p.Ser186Thr) c.622T>A (p.Ser208Thr) | |
| 8 | g.64615986G>A | CA461420291 | CYP7B1 | c.555C>T (p.Ser185=) c.621C>T (p.Ser207=) | ClinVar gnomAD v4 |
| 8 | g.64615986G>C | CA371335489 | CYP7B1 | c.555C>G (p.Ser185Arg) c.621C>G (p.Ser207Arg) | |
| 8 | g.64615986G>T | CA371335490 | CYP7B1 | c.555C>A (p.Ser185Arg) c.621C>A (p.Ser207Arg) | |
| 8 | g.64615987C>A | CA371335491 | CYP7B1 | c.554G>T (p.Ser185Ile) c.620G>T (p.Ser207Ile) | |
| 8 | g.64615987C= | CA1789664405 | CYP7B1 | c.554G= (p.Ser185=) c.620G= (p.Ser207=) | |
| 8 | g.64615987C>G | CA371335492 | CYP7B1 | c.554G>C (p.Ser185Thr) c.620G>C (p.Ser207Thr) | |
| 8 | g.64615987C>T | CA371335493 | CYP7B1 | c.554G>A (p.Ser185Asn) c.620G>A (p.Ser207Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64615988T>A | CA371335494 | CYP7B1 | c.553A>T (p.Ser185Cys) c.619A>T (p.Ser207Cys) | |
| 8 | g.64615988T>C | CA371335496 | CYP7B1 | c.553A>G (p.Ser185Gly) c.619A>G (p.Ser207Gly) | |
| 8 | g.64615988T>G | CA371335495 | CYP7B1 | c.553A>C (p.Ser185Arg) c.619A>C (p.Ser207Arg) | |
| 8 | g.64615989G>A | CA461420292 | CYP7B1 | c.552C>T (p.Cys184=) c.618C>T (p.Cys206=) | |
| 8 | g.64615989G>C | CA371335497 | CYP7B1 | c.552C>G (p.Cys184Trp) c.618C>G (p.Cys206Trp) | |
| 8 | g.64615989G>T | CA371335498 | CYP7B1 | c.552C>A (p.Cys184Ter) c.618C>A (p.Cys206Ter) | |
| 8 | g.64615990C>A | CA371335499 | CYP7B1 | c.551G>T (p.Cys184Phe) c.617G>T (p.Cys206Phe) | gnomAD v4 COSMIC |
| 8 | g.64615990C>G | CA371335500 | CYP7B1 | c.551G>C (p.Cys184Ser) c.617G>C (p.Cys206Ser) | |
| 8 | g.64615990C>T | CA371335501 | CYP7B1 | c.551G>A (p.Cys184Tyr) c.617G>A (p.Cys206Tyr) | |
| 8 | g.64615991A>C | CA371335502 | CYP7B1 | c.550T>G (p.Cys184Gly) c.616T>G (p.Cys206Gly) | |
| 8 | g.64615991A>G | CA371335503 | CYP7B1 | c.550T>C (p.Cys184Arg) c.616T>C (p.Cys206Arg) | gnomAD v4 |
| 8 | g.64615991A>T | CA371335504 | CYP7B1 | c.550T>A (p.Cys184Ser) c.616T>A (p.Cys206Ser) | |
| 8 | g.64615992G>A | CA461420293 | CYP7B1 | c.549C>T (p.Phe183=) c.615C>T (p.Phe205=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.64615992G>C | CA371335505 | CYP7B1 | c.549C>G (p.Phe183Leu) c.615C>G (p.Phe205Leu) | |
| 8 | g.64615992G= | CA1789664406 | CYP7B1 | c.549C= (p.Phe183=) c.615C= (p.Phe205=) | |
| 8 | g.64615992G>T | CA371335506 | CYP7B1 | c.549C>A (p.Phe183Leu) c.615C>A (p.Phe205Leu) | |
| 8 | g.64615993A>C | CA371335509 | CYP7B1 | c.548T>G (p.Phe183Cys) c.614T>G (p.Phe205Cys) | |
| 8 | g.64615993A>G | CA371335508 | CYP7B1 | c.548T>C (p.Phe183Ser) c.614T>C (p.Phe205Ser) | |
| 8 | g.64615993A>T | CA371335507 | CYP7B1 | c.548T>A (p.Phe183Tyr) c.614T>A (p.Phe205Tyr) | |
| 8 | g.64615994A>C | CA371335510 | CYP7B1 | c.547T>G (p.Phe183Val) c.613T>G (p.Phe205Val) | |
| 8 | g.64615994A>G | CA371335511 | CYP7B1 | c.547T>C (p.Phe183Leu) c.613T>C (p.Phe205Leu) | |
| 8 | g.64615994A>T | CA371335512 | CYP7B1 | c.547T>A (p.Phe183Ile) c.613T>A (p.Phe205Ile) |