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 |
|---|---|---|---|---|---|
| 9 | g.124500323_124500330del | CA2695211086 | NR5A1 | c.630_637del (p.Tyr211ProfsTer12) c.40-58_40-51del (n.40-58_40-51del) c.369_376del (p.Tyr124ProfsTer12) | |
| 9 | g.124500325_124500331del | CA2695211087 | NR5A1 | c.630_636del (p.Tyr211ThrfsTer?) c.40-58_40-52del (n.40-58_40-52del) c.369_375del (p.Tyr124ThrfsTer?) | |
| 9 | g.124500327_124500331delinsTTACT | CA2695211088 | NR5A1 | c.629_633delinsAGTAA (p.Pro210GlnfsTer2) c.40-59_40-55delinsAGTAA (n.40-59_40-55delinsAGTAA) c.368_372delinsAGTAA (p.Pro123GlnfsTer2) | |
| 9 | g.124500330del | CA2695211089 | NR5A1 | c.630del (p.Tyr211ThrfsTer?) c.40-58del (n.40-58del) c.369del (p.Tyr124ThrfsTer?) | |
| 9 | g.124500330C>A | CA5235431 | NR5A1 | c.630G>T (p.Pro210=) c.40-58G>T (n.40-58G>T) c.369G>T (p.Pro123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500330C= | CA1878468675 | NR5A1 | c.630G= (p.Pro210=) c.40-58G= (n.40-58G=) c.369G= (p.Pro123=) | |
| 9 | g.124500330C>G | CA467208319 | NR5A1 | c.630G>C (p.Pro210=) c.40-58G>C (n.40-58G>C) c.369G>C (p.Pro123=) | |
| 9 | g.124500330C>T | CA5235430 | NR5A1 | c.630G>A (p.Pro210=) c.40-58G>A (n.40-58G>A) c.369G>A (p.Pro123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500331G>A | CA199728830 | NR5A1 | c.629C>T (p.Pro210Leu) c.40-59C>T (n.40-59C>T) c.368C>T (p.Pro123Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500331G>C | CA374886518 | NR5A1 | c.629C>G (p.Pro210Arg) c.40-59C>G (n.40-59C>G) c.368C>G (p.Pro123Arg) | |
| 9 | g.124500331G= | CA1878468678 | NR5A1 | c.629C= (p.Pro210=) c.40-59C= (n.40-59C=) c.368C= (p.Pro123=) | |
| 9 | g.124500331G>T | CA374886520 | NR5A1 | c.629C>A (p.Pro210Gln) c.40-59C>A (n.40-59C>A) c.368C>A (p.Pro123Gln) | |
| 9 | g.124500332G>A | CA374886522 | NR5A1 | c.628C>T (p.Pro210Ser) c.40-60C>T (n.40-60C>T) c.367C>T (p.Pro123Ser) | gnomAD v4 |
| 9 | g.124500332G>C | CA374886523 | NR5A1 | c.628C>G (p.Pro210Ala) c.40-60C>G (n.40-60C>G) c.367C>G (p.Pro123Ala) | |
| 9 | g.124500332G= | CA1878468681 | NR5A1 | c.628C= (p.Pro210=) c.40-60C= (n.40-60C=) c.367C= (p.Pro123=) | |
| 9 | g.124500332G>T | CA374886526 | NR5A1 | c.628C>A (p.Pro210Thr) c.40-60C>A (n.40-60C>A) c.367C>A (p.Pro123Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500333C>A | CA467208325 | NR5A1 | c.627G>T (p.Leu209=) c.40-61G>T (n.40-61G>T) c.366G>T (p.Leu122=) | gnomAD v4 |
| 9 | g.124500333C= | CA1878468683 | NR5A1 | c.627G= (p.Leu209=) c.40-61G= (n.40-61G=) c.366G= (p.Leu122=) | |
| 9 | g.124500333C>G | CA467208327 | NR5A1 | c.627G>C (p.Leu209=) c.40-61G>C (n.40-61G>C) c.366G>C (p.Leu122=) | |
| 9 | g.124500333C>T | CA467208326 | NR5A1 | c.627G>A (p.Leu209=) c.40-61G>A (n.40-61G>A) c.366G>A (p.Leu122=) | dbSNP gnomAD v2 |
| 9 | g.124500334A= | CA1878468686 | NR5A1 | c.626T= (p.Leu209=) c.40-62T= (n.40-62T=) c.365T= (p.Leu122=) | |
| 9 | g.124500334A>C | CA374886529 | NR5A1 | c.626T>G (p.Leu209Arg) c.40-62T>G (n.40-62T>G) c.365T>G (p.Leu122Arg) | |
| 9 | g.124500334A>G | CA374886530 | NR5A1 | c.626T>C (p.Leu209Pro) c.40-62T>C (n.40-62T>C) c.365T>C (p.Leu122Pro) | |
| 9 | g.124500334A>T | CA374886532 | NR5A1 | c.626T>A (p.Leu209Gln) c.40-62T>A (n.40-62T>A) c.365T>A (p.Leu122Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500335G>A | CA467208329 | NR5A1 | c.625C>T (p.Leu209=) c.40-63C>T (n.40-63C>T) c.364C>T (p.Leu122=) | |
| 9 | g.124500335G>C | CA374886533 | NR5A1 | c.625C>G (p.Leu209Val) c.40-63C>G (n.40-63C>G) c.364C>G (p.Leu122Val) | |
| 9 | g.124500335G>T | CA374886536 | NR5A1 | c.625C>A (p.Leu209Met) c.40-63C>A (n.40-63C>A) c.364C>A (p.Leu122Met) | gnomAD v4 |
| 9 | g.124500336C>A | CA467208332 | NR5A1 | c.624G>T (p.Gly208=) c.40-64G>T (n.40-64G>T) c.363G>T (p.Gly121=) | gnomAD v4 |
| 9 | g.124500336C>G | CA467208333 | NR5A1 | c.624G>C (p.Gly208=) c.40-64G>C (n.40-64G>C) c.363G>C (p.Gly121=) | |
| 9 | g.124500336C>T | CA467208334 | NR5A1 | c.624G>A (p.Gly208=) c.40-64G>A (n.40-64G>A) c.363G>A (p.Gly121=) | |
| 9 | g.124500338del | CA2691611071 | NR5A1 | c.624del (p.Leu209CysfsTer?) c.40-64del (n.40-64del) c.363del (p.Leu122CysfsTer?) | gnomAD v4 |
| 9 | g.124500337C>A | CA374886539 | NR5A1 | c.623G>T (p.Gly208Val) c.40-65G>T (n.40-65G>T) c.362G>T (p.Gly121Val) | gnomAD v4 |
| 9 | g.124500337C= | CA1878468690 | NR5A1 | c.623G= (p.Gly208=) c.40-65G= (n.40-65G=) c.362G= (p.Gly121=) | |
| 9 | g.124500337C>G | CA374886540 | NR5A1 | c.623G>C (p.Gly208Ala) c.40-65G>C (n.40-65G>C) c.362G>C (p.Gly121Ala) | |
| 9 | g.124500337C>T | CA374886541 | NR5A1 | c.623G>A (p.Gly208Glu) c.40-65G>A (n.40-65G>A) c.362G>A (p.Gly121Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500338C>A | CA374886548 | NR5A1 | c.622G>T (p.Gly208Trp) c.40-66G>T (n.40-66G>T) c.361G>T (p.Gly121Trp) | |
| 9 | g.124500338C>G | CA374886545 | NR5A1 | c.622G>C (p.Gly208Arg) c.40-66G>C (n.40-66G>C) c.361G>C (p.Gly121Arg) | |
| 9 | g.124500338C>T | CA374886544 | NR5A1 | c.622G>A (p.Gly208Arg) c.40-66G>A (n.40-66G>A) c.361G>A (p.Gly121Arg) | |
| 9 | g.124500339A= | CA1878468695 | NR5A1 | c.621T= (p.Pro207=) c.40-67T= (n.40-67T=) c.360T= (p.Pro120=) | |
| 9 | g.124500339A>C | CA467208337 | NR5A1 | c.621T>G (p.Pro207=) c.40-67T>G (n.40-67T>G) c.360T>G (p.Pro120=) | dbSNP |
| 9 | g.124500339A>G | CA467208339 | NR5A1 | c.621T>C (p.Pro207=) c.40-67T>C (n.40-67T>C) c.360T>C (p.Pro120=) | |
| 9 | g.124500339A>T | CA467208341 | NR5A1 | c.621T>A (p.Pro207=) c.40-67T>A (n.40-67T>A) c.360T>A (p.Pro120=) | |
| 9 | g.124500340G>A | CA374886550 | NR5A1 | c.620C>T (p.Pro207Leu) c.40-68C>T (n.40-68C>T) c.359C>T (p.Pro120Leu) | |
| 9 | g.124500340G>C | CA374886551 | NR5A1 | c.620C>G (p.Pro207Arg) c.40-68C>G (n.40-68C>G) c.359C>G (p.Pro120Arg) | |
| 9 | g.124500340G>T | CA374886553 | NR5A1 | c.620C>A (p.Pro207His) c.40-68C>A (n.40-68C>A) c.359C>A (p.Pro120His) | gnomAD v4 |
| 9 | g.124500341G>A | CA374886556 | NR5A1 | c.619C>T (p.Pro207Ser) c.40-69C>T (n.40-69C>T) c.358C>T (p.Pro120Ser) | dbSNP |
| 9 | g.124500341G>C | CA374886563 | NR5A1 | c.619C>G (p.Pro207Ala) c.40-69C>G (n.40-69C>G) c.358C>G (p.Pro120Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500341G= | CA1878468700 | NR5A1 | c.619C= (p.Pro207=) c.40-69C= (n.40-69C=) c.358C= (p.Pro120=) | |
| 9 | g.124500341G>T | CA374886566 | NR5A1 | c.619C>A (p.Pro207Thr) c.40-69C>A (n.40-69C>A) c.358C>A (p.Pro120Thr) | gnomAD v4 |
| 9 | g.124500342C>A | CA374886568 | NR5A1 | c.618G>T (p.Gln206His) c.40-70G>T (n.40-70G>T) c.357G>T (p.Gln119His) | gnomAD v4 |
| 9 | g.124500342C>G | CA374886570 | NR5A1 | c.618G>C (p.Gln206His) c.40-70G>C (n.40-70G>C) c.357G>C (p.Gln119His) | |
| 9 | g.124500342C>T | CA467208346 | NR5A1 | c.618G>A (p.Gln206=) c.40-70G>A (n.40-70G>A) c.357G>A (p.Gln119=) | gnomAD v4 |
| 9 | g.124500343T>A | CA374886573 | NR5A1 | c.617A>T (p.Gln206Leu) c.40-71A>T (n.40-71A>T) c.356A>T (p.Gln119Leu) | |
| 9 | g.124500343T>C | CA374886575 | NR5A1 | c.617A>G (p.Gln206Arg) c.40-71A>G (n.40-71A>G) c.356A>G (p.Gln119Arg) | gnomAD v4 |
| 9 | g.124500343T>G | CA374886577 | NR5A1 | c.617A>C (p.Gln206Pro) c.40-71A>C (n.40-71A>C) c.356A>C (p.Gln119Pro) | |
| 9 | g.124500344G>A | CA374886579 | NR5A1 | c.616C>T (p.Gln206Ter) c.40-72C>T (n.40-72C>T) c.355C>T (p.Gln119Ter) | gnomAD v4 |
| 9 | g.124500344G>C | CA5235432 | NR5A1 | c.616C>G (p.Gln206Glu) c.40-72C>G (n.40-72C>G) c.355C>G (p.Gln119Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500344G= | CA1878468706 | NR5A1 | c.616C= (p.Gln206=) c.40-72C= (n.40-72C=) c.355C= (p.Gln119=) | |
| 9 | g.124500344G>T | CA374886582 | NR5A1 | c.616C>A (p.Gln206Lys) c.40-72C>A (n.40-72C>A) c.355C>A (p.Gln119Lys) | ClinVar |
| 9 | g.124500345T>A | CA467208348 | NR5A1 | c.615A>T (p.Pro205=) c.40-73A>T (n.40-73A>T) c.354A>T (p.Pro118=) | |
| 9 | g.124500345T>C | CA467208349 | NR5A1 | c.615A>G (p.Pro205=) c.40-73A>G (n.40-73A>G) c.354A>G (p.Pro118=) | |
| 9 | g.124500345T>G | CA467208350 | NR5A1 | c.615A>C (p.Pro205=) c.40-73A>C (n.40-73A>C) c.354A>C (p.Pro118=) | |
| 9 | g.124500345T= | CA1878468711 | NR5A1 | c.615A= (p.Pro205=) c.40-73A= (n.40-73A=) c.354A= (p.Pro118=) | |
| 9 | g.124500345_124500346insC | CA2695211091 | NR5A1 | c.614_615insG (p.Gln206ThrfsTer20) c.40-74_40-73insG (n.40-74_40-73insG) c.353_354insG (p.Gln119ThrfsTer20) | |
| 9 | g.124500346G>A | CA199728839 | NR5A1 | c.614C>T (p.Pro205Leu) c.40-74C>T (n.40-74C>T) c.353C>T (p.Pro118Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500346G>C | CA374886587 | NR5A1 | c.614C>G (p.Pro205Arg) c.40-74C>G (n.40-74C>G) c.353C>G (p.Pro118Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500346G= | CA1878468716 | NR5A1 | c.614C= (p.Pro205=) c.40-74C= (n.40-74C=) c.353C= (p.Pro118=) | |
| 9 | g.124500346G>T | CA374886585 | NR5A1 | c.614C>A (p.Pro205Gln) c.40-74C>A (n.40-74C>A) c.353C>A (p.Pro118Gln) | gnomAD v4 |
| 9 | g.124500351dup | CA590936670 | NR5A1 | c.614dup (p.Gln206ThrfsTer20) c.40-74dup (n.40-74dup) c.353dup (p.Gln119ThrfsTer20) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500351del | CA2691611077 | NR5A1 | c.614del (p.Pro205HisfsTer?) c.40-74del (n.40-74del) c.353del (p.Pro118HisfsTer?) | gnomAD v4 |
| 9 | g.124500350_124500351del | CA2695211090 | NR5A1 | c.613_614del (p.Pro205ThrfsTer20) c.40-75_40-74del (n.40-75_40-74del) c.352_353del (p.Pro118ThrfsTer20) | |
| 9 | g.124500347G>A | CA374886588 | NR5A1 | c.613C>T (p.Pro205Ser) c.40-75C>T (n.40-75C>T) c.352C>T (p.Pro118Ser) | dbSNP gnomAD v2 |
| 9 | g.124500347G>C | CA5235433 | NR5A1 | c.613C>G (p.Pro205Ala) c.40-75C>G (n.40-75C>G) c.352C>G (p.Pro118Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500347G= | CA1878468720 | NR5A1 | c.613C= (p.Pro205=) c.40-75C= (n.40-75C=) c.352C= (p.Pro118=) | |
| 9 | g.124500347G>T | CA374886589 | NR5A1 | c.613C>A (p.Pro205Thr) c.40-75C>A (n.40-75C>A) c.352C>A (p.Pro118Thr) | gnomAD v4 |
| 9 | g.124500348G>A | CA5235435 | NR5A1 | c.612C>T (p.Pro204=) c.40-76C>T (n.40-76C>T) c.351C>T (p.Pro117=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500348G>C | CA467208353 | NR5A1 | c.612C>G (p.Pro204=) c.40-76C>G (n.40-76C>G) c.351C>G (p.Pro117=) | |
| 9 | g.124500348G= | CA1878468723 | NR5A1 | c.612C= (p.Pro204=) c.40-76C= (n.40-76C=) c.351C= (p.Pro117=) | |
| 9 | g.124500348G>T | CA5235434 | NR5A1 | c.612C>A (p.Pro204=) c.40-76C>A (n.40-76C>A) c.351C>A (p.Pro117=) | dbSNP ExAC gnomAD v2 |
| 9 | g.124500349G>A | CA374886593 | NR5A1 | c.611C>T (p.Pro204Leu) c.40-77C>T (n.40-77C>T) c.350C>T (p.Pro117Leu) | dbSNP |
| 9 | g.124500349G>C | CA374886595 | NR5A1 | c.611C>G (p.Pro204Arg) c.40-77C>G (n.40-77C>G) c.350C>G (p.Pro117Arg) | gnomAD v4 |
| 9 | g.124500349G= | CA1878468731 | NR5A1 | c.611C= (p.Pro204=) c.40-77C= (n.40-77C=) c.350C= (p.Pro117=) | |
| 9 | g.124500349G>T | CA374886596 | NR5A1 | c.611C>A (p.Pro204His) c.40-77C>A (n.40-77C>A) c.350C>A (p.Pro117His) | gnomAD v4 |
| 9 | g.124500350G>A | CA374886598 | NR5A1 | c.610C>T (p.Pro204Ser) c.40-78C>T (n.40-78C>T) c.349C>T (p.Pro117Ser) | gnomAD v4 |
| 9 | g.124500350G>C | CA374886599 | NR5A1 | c.610C>G (p.Pro204Ala) c.40-78C>G (n.40-78C>G) c.349C>G (p.Pro117Ala) | |
| 9 | g.124500350G>T | CA374886601 | NR5A1 | c.610C>A (p.Pro204Thr) c.40-78C>A (n.40-78C>A) c.349C>A (p.Pro117Thr) | gnomAD v4 |
| 9 | g.124500351G>A | CA467208357 | NR5A1 | c.609C>T (p.Ser203=) c.40-79C>T (n.40-79C>T) c.348C>T (p.Ser116=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500351G>C | CA374886603 | NR5A1 | c.609C>G (p.Ser203Arg) c.40-79C>G (n.40-79C>G) c.348C>G (p.Ser116Arg) | |
| 9 | g.124500351G= | CA1878468735 | NR5A1 | c.609C= (p.Ser203=) c.40-79C= (n.40-79C=) c.348C= (p.Ser116=) | |
| 9 | g.124500351G>T | CA374886604 | NR5A1 | c.609C>A (p.Ser203Arg) c.40-79C>A (n.40-79C>A) c.348C>A (p.Ser116Arg) | gnomAD v4 |
| 9 | g.124500352C>A | CA5235436 | NR5A1 | c.608G>T (p.Ser203Ile) c.40-80G>T (n.40-80G>T) c.347G>T (p.Ser116Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500352C= | CA1878468738 | NR5A1 | c.608G= (p.Ser203=) c.40-80G= (n.40-80G=) c.347G= (p.Ser116=) | |
| 9 | g.124500352C>G | CA374886608 | NR5A1 | c.608G>C (p.Ser203Thr) c.40-80G>C (n.40-80G>C) c.347G>C (p.Ser116Thr) | gnomAD v4 |
| 9 | g.124500352C>T | CA374886610 | NR5A1 | c.608G>A (p.Ser203Asn) c.40-80G>A (n.40-80G>A) c.347G>A (p.Ser116Asn) | gnomAD v4 |
| 9 | g.124500353T>A | CA374886613 | NR5A1 | c.607A>T (p.Ser203Cys) c.40-81A>T (n.40-81A>T) c.346A>T (p.Ser116Cys) | |
| 9 | g.124500353T>C | CA374886615 | NR5A1 | c.607A>G (p.Ser203Gly) c.40-81A>G (n.40-81A>G) c.346A>G (p.Ser116Gly) | |
| 9 | g.124500353T>G | CA374886617 | NR5A1 | c.607A>C (p.Ser203Arg) c.40-81A>C (n.40-81A>C) c.346A>C (p.Ser116Arg) | |
| 9 | g.124500354G>A | CA467208361 | NR5A1 | c.606C>T (p.Ala202=) c.40-82C>T (n.40-82C>T) c.345C>T (p.Ala115=) | gnomAD v4 |
| 9 | g.124500354G>C | CA467208360 | NR5A1 | c.606C>G (p.Ala202=) c.40-82C>G (n.40-82C>G) c.345C>G (p.Ala115=) | |
| 9 | g.124500354G>T | CA467208359 | NR5A1 | c.606C>A (p.Ala202=) c.40-82C>A (n.40-82C>A) c.345C>A (p.Ala115=) | gnomAD v4 |
| 9 | g.124500355G>A | CA199728855 | NR5A1 | c.605C>T (p.Ala202Val) c.40-83C>T (n.40-83C>T) c.344C>T (p.Ala115Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500355G>C | CA374886621 | NR5A1 | c.605C>G (p.Ala202Gly) c.40-83C>G (n.40-83C>G) c.344C>G (p.Ala115Gly) | |
| 9 | g.124500355G= | CA1878468744 | NR5A1 | c.605C= (p.Ala202=) c.40-83C= (n.40-83C=) c.344C= (p.Ala115=) | |
| 9 | g.124500355G>T | CA374886624 | NR5A1 | c.605C>A (p.Ala202Asp) c.40-83C>A (n.40-83C>A) c.344C>A (p.Ala115Asp) | gnomAD v4 |
| 9 | g.124500356C>A | CA374886626 | NR5A1 | c.604G>T (p.Ala202Ser) c.40-84G>T (n.40-84G>T) c.343G>T (p.Ala115Ser) | gnomAD v4 |
| 9 | g.124500356C= | CA1878468747 | NR5A1 | c.604G= (p.Ala202=) c.40-84G= (n.40-84G=) c.343G= (p.Ala115=) | |
| 9 | g.124500356C>G | CA374886629 | NR5A1 | c.604G>C (p.Ala202Pro) c.40-84G>C (n.40-84G>C) c.343G>C (p.Ala115Pro) | |
| 9 | g.124500356C>T | CA374886630 | NR5A1 | c.604G>A (p.Ala202Thr) c.40-84G>A (n.40-84G>A) c.343G>A (p.Ala115Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500357A= | CA1878468749 | NR5A1 | c.603T= (p.Tyr201=) c.40-85T= (n.40-85T=) c.342T= (p.Tyr114=) | |
| 9 | g.124500357A>C | CA374886631 | NR5A1 | c.603T>G (p.Tyr201Ter) c.40-85T>G (n.40-85T>G) c.342T>G (p.Tyr114Ter) | |
| 9 | g.124500357A>G | CA467208363 | NR5A1 | c.603T>C (p.Tyr201=) c.40-85T>C (n.40-85T>C) c.342T>C (p.Tyr114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500357A>T | CA374886632 | NR5A1 | c.603T>A (p.Tyr201Ter) c.40-85T>A (n.40-85T>A) c.342T>A (p.Tyr114Ter) | |
| 9 | g.124500358T>A | CA374886633 | NR5A1 | c.602A>T (p.Tyr201Phe) c.40-86A>T (n.40-86A>T) c.341A>T (p.Tyr114Phe) | |
| 9 | g.124500358T>C | CA374886635 | NR5A1 | c.602A>G (p.Tyr201Cys) c.40-86A>G (n.40-86A>G) c.341A>G (p.Tyr114Cys) | gnomAD v4 |
| 9 | g.124500358T>G | CA374886634 | NR5A1 | c.602A>C (p.Tyr201Ser) c.40-86A>C (n.40-86A>C) c.341A>C (p.Tyr114Ser) | |
| 9 | g.124500359A>C | CA374886636 | NR5A1 | c.601T>G (p.Tyr201Asp) c.40-87T>G (n.40-87T>G) c.340T>G (p.Tyr114Asp) | |
| 9 | g.124500359A>G | CA374886637 | NR5A1 | c.601T>C (p.Tyr201His) c.40-87T>C (n.40-87T>C) c.340T>C (p.Tyr114His) | gnomAD v4 |
| 9 | g.124500359A>T | CA374886638 | NR5A1 | c.601T>A (p.Tyr201Asn) c.40-87T>A (n.40-87T>A) c.340T>A (p.Tyr114Asn) | |
| 9 | g.124500360del | CA2740095597 | NR5A1 | c.601del (p.Tyr201MetfsTer?) c.40-87del (n.40-87del) c.340del (p.Tyr114MetfsTer?) | ClinVar |
| 9 | g.124500360A>C | CA467208365 | NR5A1 | c.600T>G (p.Pro200=) c.40-88T>G (n.40-88T>G) c.339T>G (p.Pro113=) | gnomAD v4 |
| 9 | g.124500360A>G | CA467208367 | NR5A1 | c.600T>C (p.Pro200=) c.40-88T>C (n.40-88T>C) c.339T>C (p.Pro113=) | |
| 9 | g.124500360A>T | CA467208366 | NR5A1 | c.600T>A (p.Pro200=) c.40-88T>A (n.40-88T>A) c.339T>A (p.Pro113=) | gnomAD v4 |
| 9 | g.124500361G>A | CA374886639 | NR5A1 | c.599C>T (p.Pro200Leu) c.40-89C>T (n.40-89C>T) c.338C>T (p.Pro113Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500361G>C | CA374886640 | NR5A1 | c.599C>G (p.Pro200Arg) c.40-89C>G (n.40-89C>G) c.338C>G (p.Pro113Arg) | |
| 9 | g.124500361G= | CA1878468751 | NR5A1 | c.599C= (p.Pro200=) c.40-89C= (n.40-89C=) c.338C= (p.Pro113=) | |
| 9 | g.124500361G>T | CA374886641 | NR5A1 | c.599C>A (p.Pro200His) c.40-89C>A (n.40-89C>A) c.338C>A (p.Pro113His) | |
| 9 | g.124500362G>A | CA5235437 | NR5A1 | c.598C>T (p.Pro200Ser) c.40-90C>T (n.40-90C>T) c.337C>T (p.Pro113Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500362G>C | CA374886642 | NR5A1 | c.598C>G (p.Pro200Ala) c.40-90C>G (n.40-90C>G) c.337C>G (p.Pro113Ala) | gnomAD v4 |
| 9 | g.124500362G= | CA1878468756 | NR5A1 | c.598C= (p.Pro200=) c.40-90C= (n.40-90C=) c.337C= (p.Pro113=) | |
| 9 | g.124500362G>T | CA5235438 | NR5A1 | c.598C>A (p.Pro200Thr) c.40-90C>A (n.40-90C>A) c.337C>A (p.Pro113Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500363C>A | CA374886643 | NR5A1 | c.597G>T (p.Glu199Asp) c.40-91G>T (n.40-91G>T) c.336G>T (p.Glu112Asp) | |
| 9 | g.124500363C>G | CA374886644 | NR5A1 | c.597G>C (p.Glu199Asp) c.40-91G>C (n.40-91G>C) c.336G>C (p.Glu112Asp) | |
| 9 | g.124500363C>T | CA467208371 | NR5A1 | c.597G>A (p.Glu199=) c.40-91G>A (n.40-91G>A) c.336G>A (p.Glu112=) | gnomAD v4 |
| 9 | g.124500364T>A | CA374886645 | NR5A1 | c.596A>T (p.Glu199Val) c.40-92A>T (n.40-92A>T) c.335A>T (p.Glu112Val) | |
| 9 | g.124500364T>C | CA374886646 | NR5A1 | c.596A>G (p.Glu199Gly) c.40-92A>G (n.40-92A>G) c.335A>G (p.Glu112Gly) | |
| 9 | g.124500364T>G | CA374886647 | NR5A1 | c.596A>C (p.Glu199Ala) c.40-92A>C (n.40-92A>C) c.335A>C (p.Glu112Ala) | |
| 9 | g.124500365C>A | CA374886650 | NR5A1 | c.595G>T (p.Glu199Ter) c.40-93G>T (n.40-93G>T) c.334G>T (p.Glu112Ter) | |
| 9 | g.124500365C>G | CA374886648 | NR5A1 | c.595G>C (p.Glu199Gln) c.40-93G>C (n.40-93G>C) c.334G>C (p.Glu112Gln) | gnomAD v4 |
| 9 | g.124500365C>T | CA374886649 | NR5A1 | c.595G>A (p.Glu199Lys) c.40-93G>A (n.40-93G>A) c.334G>A (p.Glu112Lys) | gnomAD v4 |
| 9 | g.124500366C>A | CA467208372 | NR5A1 | c.594G>T (p.Pro198=) c.40-94G>T (n.40-94G>T) c.333G>T (p.Pro111=) | gnomAD v4 |
| 9 | g.124500366C= | CA1878468760 | NR5A1 | c.594G= (p.Pro198=) c.40-94G= (n.40-94G=) c.333G= (p.Pro111=) | |
| 9 | g.124500366C>G | CA467208373 | NR5A1 | c.594G>C (p.Pro198=) c.40-94G>C (n.40-94G>C) c.333G>C (p.Pro111=) | |
| 9 | g.124500366C>T | CA5235439 | NR5A1 | c.594G>A (p.Pro198=) c.40-94G>A (n.40-94G>A) c.333G>A (p.Pro111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500367G>A | CA5235440 | NR5A1 | c.593C>T (p.Pro198Leu) c.40-95C>T (n.40-95C>T) c.332C>T (p.Pro111Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500367G>C | CA374886651 | NR5A1 | c.593C>G (p.Pro198Arg) c.40-95C>G (n.40-95C>G) c.332C>G (p.Pro111Arg) | |
| 9 | g.124500367G= | CA1878468764 | NR5A1 | c.593C= (p.Pro198=) c.40-95C= (n.40-95C=) c.332C= (p.Pro111=) | |
| 9 | g.124500367G>T | CA374886652 | NR5A1 | c.593C>A (p.Pro198Gln) c.40-95C>A (n.40-95C>A) c.332C>A (p.Pro111Gln) | gnomAD v4 |
| 9 | g.124500368G>A | CA374886653 | NR5A1 | c.592C>T (p.Pro198Ser) c.40-96C>T (n.40-96C>T) c.331C>T (p.Pro111Ser) | gnomAD v4 |
| 9 | g.124500368G>C | CA374886654 | NR5A1 | c.592C>G (p.Pro198Ala) c.40-96C>G (n.40-96C>G) c.331C>G (p.Pro111Ala) | |
| 9 | g.124500368G= | CA1878468768 | NR5A1 | c.592C= (p.Pro198=) c.40-96C= (n.40-96C=) c.331C= (p.Pro111=) | |
| 9 | g.124500368G>T | CA374886655 | NR5A1 | c.592C>A (p.Pro198Thr) c.40-96C>A (n.40-96C>A) c.331C>A (p.Pro111Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500369G>A | CA467208376 | NR5A1 | c.591C>T (p.Tyr197=) c.40-97C>T (n.40-97C>T) c.330C>T (p.Tyr110=) | gnomAD v4 |
| 9 | g.124500369G>C | CA374886656 | NR5A1 | c.591C>G (p.Tyr197Ter) c.40-97C>G (n.40-97C>G) c.330C>G (p.Tyr110Ter) | ClinVar |
| 9 | g.124500369G>T | CA374886657 | NR5A1 | c.591C>A (p.Tyr197Ter) c.40-97C>A (n.40-97C>A) c.330C>A (p.Tyr110Ter) | gnomAD v4 |
| 9 | g.124500370T>A | CA374886658 | NR5A1 | c.590A>T (p.Tyr197Phe) c.40-98A>T (n.40-98A>T) c.329A>T (p.Tyr110Phe) | |
| 9 | g.124500370T>C | CA374886659 | NR5A1 | c.590A>G (p.Tyr197Cys) c.40-98A>G (n.40-98A>G) c.329A>G (p.Tyr110Cys) | gnomAD v4 |
| 9 | g.124500370T>G | CA374886660 | NR5A1 | c.590A>C (p.Tyr197Ser) c.40-98A>C (n.40-98A>C) c.329A>C (p.Tyr110Ser) | |
| 9 | g.124500371A>C | CA374886661 | NR5A1 | c.589T>G (p.Tyr197Asp) c.40-99T>G (n.40-99T>G) c.328T>G (p.Tyr110Asp) | |
| 9 | g.124500371A>G | CA374886663 | NR5A1 | c.589T>C (p.Tyr197His) c.40-99T>C (n.40-99T>C) c.328T>C (p.Tyr110His) | |
| 9 | g.124500371A>T | CA374886662 | NR5A1 | c.589T>A (p.Tyr197Asn) c.40-99T>A (n.40-99T>A) c.328T>A (p.Tyr110Asn) | |
| 9 | g.124500372C>A | CA374886664 | NR5A1 | c.588G>T (p.Glu196Asp) c.40-100G>T (n.40-100G>T) c.327G>T (p.Glu109Asp) | |
| 9 | g.124500372C>G | CA374886665 | NR5A1 | c.588G>C (p.Glu196Asp) c.40-100G>C (n.40-100G>C) c.327G>C (p.Glu109Asp) | |
| 9 | g.124500372C>T | CA467208380 | NR5A1 | c.588G>A (p.Glu196=) c.40-100G>A (n.40-100G>A) c.327G>A (p.Glu109=) | |
| 9 | g.124500373T>A | CA374886667 | NR5A1 | c.587A>T (p.Glu196Val) c.40-101A>T (n.40-101A>T) c.326A>T (p.Glu109Val) | |
| 9 | g.124500373T>C | CA374886669 | NR5A1 | c.587A>G (p.Glu196Gly) c.40-101A>G (n.40-101A>G) c.326A>G (p.Glu109Gly) | |
| 9 | g.124500373T>G | CA374886671 | NR5A1 | c.587A>C (p.Glu196Ala) c.40-101A>C (n.40-101A>C) c.326A>C (p.Glu109Ala) | |
| 9 | g.124500374C>A | CA374886674 | NR5A1 | c.586G>T (p.Glu196Ter) c.40-102G>T (n.40-102G>T) c.325G>T (p.Glu109Ter) | gnomAD v4 |
| 9 | g.124500374C= | CA1878468770 | NR5A1 | c.586G= (p.Glu196=) c.40-102G= (n.40-102G=) c.325G= (p.Glu109=) | |
| 9 | g.124500374C>G | CA374886676 | NR5A1 | c.586G>C (p.Glu196Gln) c.40-102G>C (n.40-102G>C) c.325G>C (p.Glu109Gln) | |
| 9 | g.124500374C>T | CA374886678 | NR5A1 | c.586G>A (p.Glu196Lys) c.40-102G>A (n.40-102G>A) c.325G>A (p.Glu109Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500375A>C | CA467208383 | NR5A1 | c.585T>G (p.Ser195=) c.40-103T>G (n.40-103T>G) c.324T>G (p.Ser108=) | |
| 9 | g.124500375A>G | CA467208381 | NR5A1 | c.585T>C (p.Ser195=) c.40-103T>C (n.40-103T>C) c.324T>C (p.Ser108=) | |
| 9 | g.124500375A>T | CA467208382 | NR5A1 | c.585T>A (p.Ser195=) c.40-103T>A (n.40-103T>A) c.324T>A (p.Ser108=) | |
| 9 | g.124500376G>A | CA374886680 | NR5A1 | c.584C>T (p.Ser195Phe) c.40-104C>T (n.40-104C>T) c.323C>T (p.Ser108Phe) | |
| 9 | g.124500376G>C | CA374886682 | NR5A1 | c.584C>G (p.Ser195Cys) c.40-104C>G (n.40-104C>G) c.323C>G (p.Ser108Cys) | |
| 9 | g.124500376G>T | CA374886684 | NR5A1 | c.584C>A (p.Ser195Tyr) c.40-104C>A (n.40-104C>A) c.323C>A (p.Ser108Tyr) | |
| 9 | g.124500377A>C | CA374886691 | NR5A1 | c.583T>G (p.Ser195Ala) c.40-105T>G (n.40-105T>G) c.322T>G (p.Ser108Ala) | |
| 9 | g.124500377A>G | CA374886689 | NR5A1 | c.583T>C (p.Ser195Pro) c.40-105T>C (n.40-105T>C) c.322T>C (p.Ser108Pro) | |
| 9 | g.124500377A>T | CA374886686 | NR5A1 | c.583T>A (p.Ser195Thr) c.40-105T>A (n.40-105T>A) c.322T>A (p.Ser108Thr) | |
| 9 | g.124500378C>A | CA199728874 | NR5A1 | c.582G>T (p.Lys194Asn) c.40-106G>T (n.40-106G>T) c.321G>T (p.Lys107Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500378C= | CA1878468773 | NR5A1 | c.582G= (p.Lys194=) c.40-106G= (n.40-106G=) c.321G= (p.Lys107=) | |
| 9 | g.124500378C>G | CA374886694 | NR5A1 | c.582G>C (p.Lys194Asn) c.40-106G>C (n.40-106G>C) c.321G>C (p.Lys107Asn) | |
| 9 | g.124500378C>T | CA467208385 | NR5A1 | c.582G>A (p.Lys194=) c.40-106G>A (n.40-106G>A) c.321G>A (p.Lys107=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500379T>A | CA374886698 | NR5A1 | c.581A>T (p.Lys194Met) c.40-107A>T (n.40-107A>T) c.320A>T (p.Lys107Met) | |
| 9 | g.124500379T>C | CA374886700 | NR5A1 | c.581A>G (p.Lys194Arg) c.40-107A>G (n.40-107A>G) c.320A>G (p.Lys107Arg) | gnomAD v4 |
| 9 | g.124500379T>G | CA374886702 | NR5A1 | c.581A>C (p.Lys194Thr) c.40-107A>C (n.40-107A>C) c.320A>C (p.Lys107Thr) | |
| 9 | g.124500380T>A | CA374886704 | NR5A1 | c.580A>T (p.Lys194Ter) c.40-108A>T (n.40-108A>T) c.319A>T (p.Lys107Ter) | |
| 9 | g.124500380T>C | CA374886706 | NR5A1 | c.580A>G (p.Lys194Glu) c.40-108A>G (n.40-108A>G) c.319A>G (p.Lys107Glu) | |
| 9 | g.124500380T>G | CA374886708 | NR5A1 | c.580A>C (p.Lys194Gln) c.40-108A>C (n.40-108A>C) c.319A>C (p.Lys107Gln) | |
| 9 | g.124500381G>A | CA467208388 | NR5A1 | c.579C>T (p.Ile193=) c.40-109C>T (n.40-109C>T) c.318C>T (p.Ile106=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500381G>C | CA374886711 | NR5A1 | c.579C>G (p.Ile193Met) c.40-109C>G (n.40-109C>G) c.318C>G (p.Ile106Met) | |
| 9 | g.124500381G= | CA1878468776 | NR5A1 | c.579C= (p.Ile193=) c.40-109C= (n.40-109C=) c.318C= (p.Ile106=) | |
| 9 | g.124500381G>T | CA467208389 | NR5A1 | c.579C>A (p.Ile193=) c.40-109C>A (n.40-109C>A) c.318C>A (p.Ile106=) | |
| 9 | g.124500382A>C | CA374886714 | NR5A1 | c.578T>G (p.Ile193Ser) c.40-110T>G (n.40-110T>G) c.317T>G (p.Ile106Ser) | |
| 9 | g.124500382A>G | CA374886716 | NR5A1 | c.578T>C (p.Ile193Thr) c.40-110T>C (n.40-110T>C) c.317T>C (p.Ile106Thr) | |
| 9 | g.124500382A>T | CA374886718 | NR5A1 | c.578T>A (p.Ile193Asn) c.40-110T>A (n.40-110T>A) c.317T>A (p.Ile106Asn) | ClinVar dbSNP gnomAD v4 |
| 9 | g.124500383T>A | CA374886723 | NR5A1 | c.577A>T (p.Ile193Phe) c.40-111A>T (n.40-111A>T) c.316A>T (p.Ile106Phe) | |
| 9 | g.124500383T>C | CA374886726 | NR5A1 | c.577A>G (p.Ile193Val) c.40-111A>G (n.40-111A>G) c.316A>G (p.Ile106Val) | |
| 9 | g.124500383T>G | CA374886721 | NR5A1 | c.577A>C (p.Ile193Leu) c.40-111A>C (n.40-111A>C) c.316A>C (p.Ile106Leu) | |
| 9 | g.124500384G>A | CA467208392 | NR5A1 | c.576C>T (p.Ala192=) c.40-112C>T (n.40-112C>T) c.315C>T (p.Ala105=) | gnomAD v4 |
| 9 | g.124500384G>C | CA467208394 | NR5A1 | c.576C>G (p.Ala192=) c.40-112C>G (n.40-112C>G) c.315C>G (p.Ala105=) | |
| 9 | g.124500384G>T | CA467208396 | NR5A1 | c.576C>A (p.Ala192=) c.40-112C>A (n.40-112C>A) c.315C>A (p.Ala105=) | |
| 9 | g.124500385G>A | CA374886730 | NR5A1 | c.575C>T (p.Ala192Val) c.40-113C>T (n.40-113C>T) c.314C>T (p.Ala105Val) | gnomAD v4 |
| 9 | g.124500385G>C | CA374886728 | NR5A1 | c.575C>G (p.Ala192Gly) c.40-113C>G (n.40-113C>G) c.314C>G (p.Ala105Gly) | |
| 9 | g.124500385G>T | CA374886731 | NR5A1 | c.575C>A (p.Ala192Asp) c.40-113C>A (n.40-113C>A) c.314C>A (p.Ala105Asp) | |
| 9 | g.124500386C>A | CA374886734 | NR5A1 | c.574G>T (p.Ala192Ser) c.40-114G>T (n.40-114G>T) c.313G>T (p.Ala105Ser) | gnomAD v4 |
| 9 | g.124500386C= | CA1878468780 | NR5A1 | c.574G= (p.Ala192=) c.40-114G= (n.40-114G=) c.313G= (p.Ala105=) | |
| 9 | g.124500386C>G | CA374886736 | NR5A1 | c.574G>C (p.Ala192Pro) c.40-114G>C (n.40-114G>C) c.313G>C (p.Ala105Pro) | |
| 9 | g.124500386C>T | CA374886737 | NR5A1 | c.574G>A (p.Ala192Thr) c.40-114G>A (n.40-114G>A) c.313G>A (p.Ala105Thr) | dbSNP gnomAD v4 |
| 9 | g.124500387A>C | CA467208397 | NR5A1 | c.573T>G (p.Arg191=) c.40-115T>G (n.40-115T>G) c.312T>G (p.Arg104=) | |
| 9 | g.124500387A>G | CA467208398 | NR5A1 | c.573T>C (p.Arg191=) c.40-115T>C (n.40-115T>C) c.312T>C (p.Arg104=) | gnomAD v4 |
| 9 | g.124500387A>T | CA467208399 | NR5A1 | c.573T>A (p.Arg191=) c.40-115T>A (n.40-115T>A) c.312T>A (p.Arg104=) | |
| 9 | g.124500388del | CA2499219608 | NR5A1 | c.572del (p.Arg191LeufsTer?) c.40-116del (n.40-116del) c.311del (p.Arg104LeufsTer?) | ClinVar dbSNP |
| 9 | g.124500388C>A | CA374886738 | NR5A1 | c.572G>T (p.Arg191Leu) c.40-116G>T (n.40-116G>T) c.311G>T (p.Arg104Leu) | |
| 9 | g.124500388C= | CA1878468786 | NR5A1 | c.572G= (p.Arg191=) c.40-116G= (n.40-116G=) c.311G= (p.Arg104=) | |
| 9 | g.124500388C>G | CA374886739 | NR5A1 | c.572G>C (p.Arg191Pro) c.40-116G>C (n.40-116G>C) c.311G>C (p.Arg104Pro) | |
| 9 | g.124500388C>T | CA374886740 | NR5A1 | c.572G>A (p.Arg191His) c.40-116G>A (n.40-116G>A) c.311G>A (p.Arg104His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500389G>A | CA374886741 | NR5A1 | c.571C>T (p.Arg191Cys) c.40-117C>T (n.40-117C>T) c.310C>T (p.Arg104Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500389G>C | CA374886742 | NR5A1 | c.571C>G (p.Arg191Gly) c.40-117C>G (n.40-117C>G) c.310C>G (p.Arg104Gly) | |
| 9 | g.124500389G= | CA1878468791 | NR5A1 | c.571C= (p.Arg191=) c.40-117C= (n.40-117C=) c.310C= (p.Arg104=) | |
| 9 | g.124500389G>T | CA374886744 | NR5A1 | c.571C>A (p.Arg191Ser) c.40-117C>A (n.40-117C>A) c.310C>A (p.Arg104Ser) | gnomAD v4 COSMIC |
| 9 | g.124500390G>A | CA467208402 | NR5A1 | c.570C>T (p.Gly190=) c.40-118C>T (n.40-118C>T) c.309C>T (p.Gly103=) | gnomAD v4 |
| 9 | g.124500390G>C | CA467208404 | NR5A1 | c.570C>G (p.Gly190=) c.40-118C>G (n.40-118C>G) c.309C>G (p.Gly103=) | |
| 9 | g.124500390G>T | CA467208405 | NR5A1 | c.570C>A (p.Gly190=) c.40-118C>A (n.40-118C>A) c.309C>A (p.Gly103=) | gnomAD v4 |
| 9 | g.124500391C>A | CA374886747 | NR5A1 | c.569G>T (p.Gly190Val) c.40-119G>T (n.40-119G>T) c.308G>T (p.Gly103Val) | gnomAD v4 |
| 9 | g.124500391C>G | CA374886749 | NR5A1 | c.569G>C (p.Gly190Ala) c.40-119G>C (n.40-119G>C) c.308G>C (p.Gly103Ala) | |
| 9 | g.124500391C>T | CA374886753 | NR5A1 | c.569G>A (p.Gly190Asp) c.40-119G>A (n.40-119G>A) c.308G>A (p.Gly103Asp) | gnomAD v4 |
| 9 | g.124500392C>A | CA374886760 | NR5A1 | c.568G>T (p.Gly190Cys) c.40-120G>T (n.40-120G>T) c.307G>T (p.Gly103Cys) | |
| 9 | g.124500392C>G | CA374886756 | NR5A1 | c.568G>C (p.Gly190Arg) c.40-120G>C (n.40-120G>C) c.307G>C (p.Gly103Arg) | |
| 9 | g.124500392C>T | CA374886757 | NR5A1 | c.568G>A (p.Gly190Ser) c.40-120G>A (n.40-120G>A) c.307G>A (p.Gly103Ser) | |
| 9 | g.124500393A>C | CA467208406 | NR5A1 | c.567T>G (p.Pro189=) c.40-121T>G (n.40-121T>G) c.306T>G (p.Pro102=) | |
| 9 | g.124500393A>G | CA467208408 | NR5A1 | c.567T>C (p.Pro189=) c.40-121T>C (n.40-121T>C) c.306T>C (p.Pro102=) | |
| 9 | g.124500393A>T | CA467208409 | NR5A1 | c.567T>A (p.Pro189=) c.40-121T>A (n.40-121T>A) c.306T>A (p.Pro102=) | |
| 9 | g.124500394G>A | CA374886762 | NR5A1 | c.566C>T (p.Pro189Leu) c.40-122C>T (n.40-122C>T) c.305C>T (p.Pro102Leu) | |
| 9 | g.124500394G>C | CA374886763 | NR5A1 | c.566C>G (p.Pro189Arg) c.40-122C>G (n.40-122C>G) c.305C>G (p.Pro102Arg) | gnomAD v4 |
| 9 | g.124500394G>T | CA374886765 | NR5A1 | c.566C>A (p.Pro189His) c.40-122C>A (n.40-122C>A) c.305C>A (p.Pro102His) | |
| 9 | g.124500395G>A | CA374886769 | NR5A1 | c.565C>T (p.Pro189Ser) c.40-123C>T (n.40-123C>T) c.304C>T (p.Pro102Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500395G>C | CA374886771 | NR5A1 | c.565C>G (p.Pro189Ala) c.40-123C>G (n.40-123C>G) c.304C>G (p.Pro102Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500395G= | CA1878468796 | NR5A1 | c.565C= (p.Pro189=) c.40-123C= (n.40-123C=) c.304C= (p.Pro102=) | |
| 9 | g.124500395G>T | CA374886773 | NR5A1 | c.565C>A (p.Pro189Thr) c.40-123C>A (n.40-123C>A) c.304C>A (p.Pro102Thr) | ClinVar dbSNP |
| 9 | g.124500396A>C | CA374886776 | NR5A1 | c.564T>G (p.Phe188Leu) c.40-124T>G (n.40-124T>G) c.303T>G (p.Phe101Leu) | |
| 9 | g.124500396A>G | CA467208411 | NR5A1 | c.564T>C (p.Phe188=) c.40-124T>C (n.40-124T>C) c.303T>C (p.Phe101=) | |
| 9 | g.124500396A>T | CA374886778 | NR5A1 | c.564T>A (p.Phe188Leu) c.40-124T>A (n.40-124T>A) c.303T>A (p.Phe101Leu) | |
| 9 | g.124500397A>C | CA374886781 | NR5A1 | c.563T>G (p.Phe188Cys) c.40-125T>G (n.40-125T>G) c.302T>G (p.Phe101Cys) | |
| 9 | g.124500397A>G | CA374886783 | NR5A1 | c.563T>C (p.Phe188Ser) c.40-125T>C (n.40-125T>C) c.302T>C (p.Phe101Ser) | |
| 9 | g.124500397A>T | CA374886785 | NR5A1 | c.563T>A (p.Phe188Tyr) c.40-125T>A (n.40-125T>A) c.302T>A (p.Phe101Tyr) | |
| 9 | g.124500398A>C | CA374886793 | NR5A1 | c.562T>G (p.Phe188Val) c.40-126T>G (n.40-126T>G) c.301T>G (p.Phe101Val) | |
| 9 | g.124500398A>G | CA374886790 | NR5A1 | c.562T>C (p.Phe188Leu) c.40-126T>C (n.40-126T>C) c.301T>C (p.Phe101Leu) | |
| 9 | g.124500398A>T | CA374886788 | NR5A1 | c.562T>A (p.Phe188Ile) c.40-126T>A (n.40-126T>A) c.301T>A (p.Phe101Ile) | |
| 9 | g.124500399G>A | CA467208414 | NR5A1 | c.561C>T (p.Ala187=) c.40-127C>T (n.40-127C>T) c.300C>T (p.Ala100=) | |
| 9 | g.124500399G>C | CA467208415 | NR5A1 | c.561C>G (p.Ala187=) c.40-127C>G (n.40-127C>G) c.300C>G (p.Ala100=) | gnomAD v4 |
| 9 | g.124500399G>T | CA467208416 | NR5A1 | c.561C>A (p.Ala187=) c.40-127C>A (n.40-127C>A) c.300C>A (p.Ala100=) | gnomAD v4 |
| 9 | g.124500400G>A | CA374886796 | NR5A1 | c.560C>T (p.Ala187Val) c.40-128C>T (n.40-128C>T) c.299C>T (p.Ala100Val) | gnomAD v4 |
| 9 | g.124500400G>C | CA374886798 | NR5A1 | c.560C>G (p.Ala187Gly) c.40-128C>G (n.40-128C>G) c.299C>G (p.Ala100Gly) | gnomAD v4 |
| 9 | g.124500400G>T | CA374886801 | NR5A1 | c.560C>A (p.Ala187Asp) c.40-128C>A (n.40-128C>A) c.299C>A (p.Ala100Asp) | |
| 9 | g.124500401del | CA2499219609 | NR5A1 | c.559del (p.Ala187ProfsTer?) c.40-129del (n.40-129del) c.298del (p.Ala100ProfsTer?) | ClinVar dbSNP |
| 9 | g.124500401C>A | CA374886804 | NR5A1 | c.559G>T (p.Ala187Ser) c.40-129G>T (n.40-129G>T) c.298G>T (p.Ala100Ser) | gnomAD v4 |
| 9 | g.124500401C>G | CA374886806 | NR5A1 | c.559G>C (p.Ala187Pro) c.40-129G>C (n.40-129G>C) c.298G>C (p.Ala100Pro) | |
| 9 | g.124500401C>T | CA374886808 | NR5A1 | c.559G>A (p.Ala187Thr) c.40-129G>A (n.40-129G>A) c.298G>A (p.Ala100Thr) | gnomAD v4 |
| 9 | g.124500402A>C | CA467208418 | NR5A1 | c.558T>G (p.Pro186=) c.40-130T>G (n.40-130T>G) c.297T>G (p.Pro99=) | |
| 9 | g.124500402A>G | CA467208420 | NR5A1 | c.558T>C (p.Pro186=) c.40-130T>C (n.40-130T>C) c.297T>C (p.Pro99=) | |
| 9 | g.124500402A>T | CA467208419 | NR5A1 | c.558T>A (p.Pro186=) c.40-130T>A (n.40-130T>A) c.297T>A (p.Pro99=) | gnomAD v4 |
| 9 | g.124500403G>A | CA374886815 | NR5A1 | c.557C>T (p.Pro186Leu) c.40-131C>T (n.40-131C>T) c.296C>T (p.Pro99Leu) | dbSNP gnomAD v2 |
| 9 | g.124500403G>C | CA374886811 | NR5A1 | c.557C>G (p.Pro186Arg) c.40-131C>G (n.40-131C>G) c.296C>G (p.Pro99Arg) | |
| 9 | g.124500403G= | CA1878468799 | NR5A1 | c.557C= (p.Pro186=) c.40-131C= (n.40-131C=) c.296C= (p.Pro99=) | |
| 9 | g.124500403G>T | CA374886814 | NR5A1 | c.557C>A (p.Pro186His) c.40-131C>A (n.40-131C>A) c.296C>A (p.Pro99His) | dbSNP gnomAD v4 |
| 9 | g.124500404G>A | CA374886816 | NR5A1 | c.556C>T (p.Pro186Ser) c.40-132C>T (n.40-132C>T) c.295C>T (p.Pro99Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500404G>C | CA374886819 | NR5A1 | c.556C>G (p.Pro186Ala) c.40-132C>G (n.40-132C>G) c.295C>G (p.Pro99Ala) | |
| 9 | g.124500404G= | CA1878468802 | NR5A1 | c.556C= (p.Pro186=) c.40-132C= (n.40-132C=) c.295C= (p.Pro99=) | |
| 9 | g.124500404G>T | CA374886821 | NR5A1 | c.556C>A (p.Pro186Thr) c.40-132C>A (n.40-132C>A) c.295C>A (p.Pro99Thr) | gnomAD v4 |
| 9 | g.124500405G>A | CA467208422 | NR5A1 | c.555C>T (p.Tyr185=) c.40-133C>T (n.40-133C>T) c.294C>T (p.Tyr98=) | |
| 9 | g.124500405G>C | CA374886824 | NR5A1 | c.555C>G (p.Tyr185Ter) c.40-133C>G (n.40-133C>G) c.294C>G (p.Tyr98Ter) | |
| 9 | g.124500405G>T | CA374886826 | NR5A1 | c.555C>A (p.Tyr185Ter) c.40-133C>A (n.40-133C>A) c.294C>A (p.Tyr98Ter) | |
| 9 | g.124500406T>A | CA374886829 | NR5A1 | c.554A>T (p.Tyr185Phe) c.40-134A>T (n.40-134A>T) c.293A>T (p.Tyr98Phe) | |
| 9 | g.124500406T>C | CA374886834 | NR5A1 | c.554A>G (p.Tyr185Cys) c.40-134A>G (n.40-134A>G) c.293A>G (p.Tyr98Cys) | |
| 9 | g.124500406T>G | CA374886831 | NR5A1 | c.554A>C (p.Tyr185Ser) c.40-134A>C (n.40-134A>C) c.293A>C (p.Tyr98Ser) | |
| 9 | g.124500407A= | CA1878468811 | NR5A1 | c.553T= (p.Tyr185=) c.40-135T= (n.40-135T=) c.292T= (p.Tyr98=) | |
| 9 | g.124500407A>C | CA374886837 | NR5A1 | c.553T>G (p.Tyr185Asp) c.40-135T>G (n.40-135T>G) c.292T>G (p.Tyr98Asp) | |
| 9 | g.124500407A>G | CA199728878 | NR5A1 | c.553T>C (p.Tyr185His) c.40-135T>C (n.40-135T>C) c.292T>C (p.Tyr98His) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500407A>T | CA374886840 | NR5A1 | c.553T>A (p.Tyr185Asn) c.40-135T>A (n.40-135T>A) c.292T>A (p.Tyr98Asn) | |
| 9 | g.124500408del | CA2785906235 | NR5A1 | c.552del (p.Tyr185ThrfsTer?) c.40-136del (n.40-136del) c.291del (p.Tyr98ThrfsTer?) | |
| 9 | g.124500408G>A | CA467208424 | NR5A1 | c.552C>T (p.Leu184=) c.40-136C>T (n.40-136C>T) c.291C>T (p.Leu97=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500408G>C | CA467208425 | NR5A1 | c.552C>G (p.Leu184=) c.40-136C>G (n.40-136C>G) c.291C>G (p.Leu97=) | dbSNP gnomAD v4 |
| 9 | g.124500408G= | CA1878468818 | NR5A1 | c.552C= (p.Leu184=) c.40-136C= (n.40-136C=) c.291C= (p.Leu97=) | |
| 9 | g.124500408G>T | CA467208426 | NR5A1 | c.552C>A (p.Leu184=) c.40-136C>A (n.40-136C>A) c.291C>A (p.Leu97=) | |
| 9 | g.124500409A= | CA1878468842 | NR5A1 | c.551T= (p.Leu184=) c.40-137T= (n.40-137T=) c.290T= (p.Leu97=) | |
| 9 | g.124500409A>C | CA374886843 | NR5A1 | c.551T>G (p.Leu184Arg) c.40-137T>G (n.40-137T>G) c.290T>G (p.Leu97Arg) | |
| 9 | g.124500409A>G | CA374886845 | NR5A1 | c.551T>C (p.Leu184Pro) c.40-137T>C (n.40-137T>C) c.290T>C (p.Leu97Pro) | |
| 9 | g.124500409A>T | CA374886847 | NR5A1 | c.551T>A (p.Leu184His) c.40-137T>A (n.40-137T>A) c.290T>A (p.Leu97His) | dbSNP |
| 9 | g.124500410G>A | CA374886850 | NR5A1 | c.550C>T (p.Leu184Phe) c.40-138C>T (n.40-138C>T) c.289C>T (p.Leu97Phe) | |
| 9 | g.124500410G>C | CA374886852 | NR5A1 | c.550C>G (p.Leu184Val) c.40-138C>G (n.40-138C>G) c.289C>G (p.Leu97Val) | |
| 9 | g.124500410G>T | CA374886854 | NR5A1 | c.550C>A (p.Leu184Ile) c.40-138C>A (n.40-138C>A) c.289C>A (p.Leu97Ile) | gnomAD v4 |
| 9 | g.124500411G>A | CA467208428 | NR5A1 | c.549C>T (p.Tyr183=) c.40-139C>T (n.40-139C>T) c.288C>T (p.Tyr96=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500411G>C | CA374886856 | NR5A1 | c.549C>G (p.Tyr183Ter) c.40-139C>G (n.40-139C>G) c.288C>G (p.Tyr96Ter) | |
| 9 | g.124500411G= | CA1878468846 | NR5A1 | c.549C= (p.Tyr183=) c.40-139C= (n.40-139C=) c.288C= (p.Tyr96=) | |
| 9 | g.124500411G>T | CA374886858 | NR5A1 | c.549C>A (p.Tyr183Ter) c.40-139C>A (n.40-139C>A) c.288C>A (p.Tyr96Ter) | |
| 9 | g.124500412T>A | CA374886863 | NR5A1 | c.548A>T (p.Tyr183Phe) c.40-140A>T (n.40-140A>T) c.287A>T (p.Tyr96Phe) | |
| 9 | g.124500412T>C | CA374886865 | NR5A1 | c.548A>G (p.Tyr183Cys) c.40-140A>G (n.40-140A>G) c.287A>G (p.Tyr96Cys) | |
| 9 | g.124500412T>G | CA374886861 | NR5A1 | c.548A>C (p.Tyr183Ser) c.40-140A>C (n.40-140A>C) c.287A>C (p.Tyr96Ser) | |
| 9 | g.124500413A>C | CA374886874 | NR5A1 | c.547T>G (p.Tyr183Asp) c.40-141T>G (n.40-141T>G) c.286T>G (p.Tyr96Asp) | |
| 9 | g.124500413A>G | CA374886869 | NR5A1 | c.547T>C (p.Tyr183His) c.40-141T>C (n.40-141T>C) c.286T>C (p.Tyr96His) | gnomAD v4 |
| 9 | g.124500413A>T | CA374886871 | NR5A1 | c.547T>A (p.Tyr183Asn) c.40-141T>A (n.40-141T>A) c.286T>A (p.Tyr96Asn) | |
| 9 | g.124500414G>A | CA467208430 | NR5A1 | c.546C>T (p.Gly182=) c.40-142C>T (n.40-142C>T) c.285C>T (p.Gly95=) | |
| 9 | g.124500414G>C | CA467208431 | NR5A1 | c.546C>G (p.Gly182=) c.40-142C>G (n.40-142C>G) c.285C>G (p.Gly95=) | |
| 9 | g.124500414G>T | CA467208432 | NR5A1 | c.546C>A (p.Gly182=) c.40-142C>A (n.40-142C>A) c.285C>A (p.Gly95=) | gnomAD v4 |
| 9 | g.124500415C>A | CA374886876 | NR5A1 | c.545G>T (p.Gly182Val) c.40-143G>T (n.40-143G>T) c.284G>T (p.Gly95Val) | dbSNP |
| 9 | g.124500415C= | CA1878468854 | NR5A1 | c.545G= (p.Gly182=) c.40-143G= (n.40-143G=) c.284G= (p.Gly95=) | |
| 9 | g.124500415C>G | CA374886878 | NR5A1 | c.545G>C (p.Gly182Ala) c.40-143G>C (n.40-143G>C) c.284G>C (p.Gly95Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500415C>T | CA374886880 | NR5A1 | c.545G>A (p.Gly182Asp) c.40-143G>A (n.40-143G>A) c.284G>A (p.Gly95Asp) | |
| 9 | g.124500416C>A | CA374886887 | NR5A1 | c.544G>T (p.Gly182Cys) c.40-144G>T (n.40-144G>T) c.283G>T (p.Gly95Cys) | |
| 9 | g.124500416C= | CA1878468855 | NR5A1 | c.544G= (p.Gly182=) c.40-144G= (n.40-144G=) c.283G= (p.Gly95=) | |
| 9 | g.124500416C>G | CA374886885 | NR5A1 | c.544G>C (p.Gly182Arg) c.40-144G>C (n.40-144G>C) c.283G>C (p.Gly95Arg) | |
| 9 | g.124500416C>T | CA199728884 | NR5A1 | c.544G>A (p.Gly182Ser) c.40-144G>A (n.40-144G>A) c.283G>A (p.Gly95Ser) | dbSNP gnomAD v4 |
| 9 | g.124500417A= | CA1878468858 | NR5A1 | c.543T= (p.Ala181=) c.40-145T= (n.40-145T=) c.282T= (p.Ala94=) | |
| 9 | g.124500417A>C | CA467208434 | NR5A1 | c.543T>G (p.Ala181=) c.40-145T>G (n.40-145T>G) c.282T>G (p.Ala94=) | |
| 9 | g.124500417A>G | CA467208435 | NR5A1 | c.543T>C (p.Ala181=) c.40-145T>C (n.40-145T>C) c.282T>C (p.Ala94=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500417A>T | CA467208436 | NR5A1 | c.543T>A (p.Ala181=) c.40-145T>A (n.40-145T>A) c.282T>A (p.Ala94=) | |
| 9 | g.124500418G>A | CA5235441 | NR5A1 | c.542C>T (p.Ala181Val) c.40-146C>T (n.40-146C>T) c.281C>T (p.Ala94Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500418G>C | CA374886890 | NR5A1 | c.542C>G (p.Ala181Gly) c.40-146C>G (n.40-146C>G) c.281C>G (p.Ala94Gly) | |
| 9 | g.124500418G= | CA1878468862 | NR5A1 | c.542C= (p.Ala181=) c.40-146C= (n.40-146C=) c.281C= (p.Ala94=) | |
| 9 | g.124500418G>T | CA374886892 | NR5A1 | c.542C>A (p.Ala181Asp) c.40-146C>A (n.40-146C>A) c.281C>A (p.Ala94Asp) | |
| 9 | g.124500419C>A | CA374886894 | NR5A1 | c.541G>T (p.Ala181Ser) c.40-147G>T (n.40-147G>T) c.280G>T (p.Ala94Ser) | |
| 9 | g.124500419C>G | CA374886896 | NR5A1 | c.541G>C (p.Ala181Pro) c.40-147G>C (n.40-147G>C) c.280G>C (p.Ala94Pro) | |
| 9 | g.124500419C>T | CA374886898 | NR5A1 | c.541G>A (p.Ala181Thr) c.40-147G>A (n.40-147G>A) c.280G>A (p.Ala94Thr) | |
| 9 | g.124500420C>A | CA467208439 | NR5A1 | c.540G>T (p.Leu180=) c.40-148G>T (n.40-148G>T) c.279G>T (p.Leu93=) | |
| 9 | g.124500420C>G | CA467208440 | NR5A1 | c.540G>C (p.Leu180=) c.40-148G>C (n.40-148G>C) c.279G>C (p.Leu93=) | |
| 9 | g.124500420C>T | CA467208441 | NR5A1 | c.540G>A (p.Leu180=) c.40-148G>A (n.40-148G>A) c.279G>A (p.Leu93=) | |
| 9 | g.124500421A>C | CA374886899 | NR5A1 | c.539T>G (p.Leu180Arg) c.40-149T>G (n.40-149T>G) c.278T>G (p.Leu93Arg) | |
| 9 | g.124500421A>G | CA374886902 | NR5A1 | c.539T>C (p.Leu180Pro) c.40-149T>C (n.40-149T>C) c.278T>C (p.Leu93Pro) | |
| 9 | g.124500421A>T | CA374886900 | NR5A1 | c.539T>A (p.Leu180Gln) c.40-149T>A (n.40-149T>A) c.278T>A (p.Leu93Gln) | |
| 9 | g.124500422G>A | CA467208443 | NR5A1 | c.538C>T (p.Leu180=) c.40-150C>T (n.40-150C>T) c.277C>T (p.Leu93=) | |
| 9 | g.124500422G>C | CA374886904 | NR5A1 | c.538C>G (p.Leu180Val) c.40-150C>G (n.40-150C>G) c.277C>G (p.Leu93Val) | |
| 9 | g.124500422G>T | CA374886905 | NR5A1 | c.538C>A (p.Leu180Met) c.40-150C>A (n.40-150C>A) c.277C>A (p.Leu93Met) | |
| 9 | g.124500423T>A | CA467208446 | NR5A1 | c.537A>T (p.Pro179=) c.40-151A>T (n.40-151A>T) c.276A>T (p.Pro92=) | |
| 9 | g.124500423T>C | CA467208445 | NR5A1 | c.537A>G (p.Pro179=) c.40-151A>G (n.40-151A>G) c.276A>G (p.Pro92=) | |
| 9 | g.124500423T>G | CA467208444 | NR5A1 | c.537A>C (p.Pro179=) c.40-151A>C (n.40-151A>C) c.276A>C (p.Pro92=) | |
| 9 | g.124500423_124500505delinsTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCA | CA1878468864 | NR5A1 | c.455_537delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA (p.Leu152=) c.40-233_40-151delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA (n.40-233_40-151delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA) c.194_276delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA (p.Leu65=) | |
| 9 | g.124500424G>A | CA374886907 | NR5A1 | c.536C>T (p.Pro179Leu) c.40-152C>T (n.40-152C>T) c.275C>T (p.Pro92Leu) | dbSNP |
| 9 | g.124500424G>C | CA374886909 | NR5A1 | c.536C>G (p.Pro179Arg) c.40-152C>G (n.40-152C>G) c.275C>G (p.Pro92Arg) | |
| 9 | g.124500424G= | CA1878468872 | NR5A1 | c.536C= (p.Pro179=) c.40-152C= (n.40-152C=) c.275C= (p.Pro92=) | |
| 9 | g.124500424G>T | CA374886911 | NR5A1 | c.536C>A (p.Pro179Gln) c.40-152C>A (n.40-152C>A) c.275C>A (p.Pro92Gln) | |
| 9 | g.124500425del | CA2695211092 | NR5A1 | c.536del (p.Pro179HisfsTer?) c.40-152del (n.40-152del) c.275del (p.Pro92HisfsTer?) | |
| 9 | g.124500429_124500510del | CA915947130 | NR5A1 | c.455_536del (p.Leu152HisfsTer?) c.40-233_40-152del (n.40-233_40-152del) c.194_275del (p.Leu65HisfsTer?) | ClinVar dbSNP |
| 9 | g.124500425G>A | CA374886912 | NR5A1 | c.535C>T (p.Pro179Ser) c.40-153C>T (n.40-153C>T) c.274C>T (p.Pro92Ser) | gnomAD v4 |
| 9 | g.124500425G>C | CA374886914 | NR5A1 | c.535C>G (p.Pro179Ala) c.40-153C>G (n.40-153C>G) c.274C>G (p.Pro92Ala) | |
| 9 | g.124500425G>T | CA374886916 | NR5A1 | c.535C>A (p.Pro179Thr) c.40-153C>A (n.40-153C>A) c.274C>A (p.Pro92Thr) | |
| 9 | g.124500426C>A | CA467208449 | NR5A1 | c.534G>T (p.Gly178=) c.40-154G>T (n.40-154G>T) c.273G>T (p.Gly91=) | gnomAD v4 |
| 9 | g.124500426C>G | CA467208450 | NR5A1 | c.534G>C (p.Gly178=) c.40-154G>C (n.40-154G>C) c.273G>C (p.Gly91=) | |
| 9 | g.124500426C>T | CA467208451 | NR5A1 | c.534G>A (p.Gly178=) c.40-154G>A (n.40-154G>A) c.273G>A (p.Gly91=) | |
| 9 | g.124500426_124500438delinsTAGCCAGCCAGTGGCCC | CA2695211093 | NR5A1 | c.522_534delinsGGGCCACTGGCTGGCTA (p.Ala176HisfsTer22) c.40-166_40-154delinsGGGCCACTGGCTGGCTA (n.40-166_40-154delinsGGGCCACTGGCTGGCTA) c.261_273delinsGGGCCACTGGCTGGCTA (p.Ala89HisfsTer22) | |
| 9 | g.124500427C>A | CA374886918 | NR5A1 | c.533G>T (p.Gly178Val) c.40-155G>T (n.40-155G>T) c.533G>T c.272G>T (p.Gly91Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500427C= | CA1878468876 | NR5A1 | c.533G= (p.Gly178=) c.40-155G= (n.40-155G=) c.533G= c.272G= (p.Gly91=) | |
| 9 | g.124500427C>G | CA374886921 | NR5A1 | c.533G>C (p.Gly178Ala) c.40-155G>C (n.40-155G>C) c.533G>C c.272G>C (p.Gly91Ala) | |
| 9 | g.124500427C>T | CA374886923 | NR5A1 | c.533G>A (p.Gly178Glu) c.40-155G>A (n.40-155G>A) c.533G>A c.272G>A (p.Gly91Glu) | |
| 9 | g.124500428C>A | CA374886927 | NR5A1 | c.532G>T (p.Gly178Trp) c.40-156G>T (n.40-156G>T) c.532G>T c.271G>T (p.Gly91Trp) | |
| 9 | g.124500428C= | CA1878468882 | NR5A1 | c.532G= (p.Gly178=) c.40-156G= (n.40-156G=) c.532G= c.271G= (p.Gly91=) | |
| 9 | g.124500428C>G | CA374886929 | NR5A1 | c.532G>C (p.Gly178Arg) c.40-156G>C (n.40-156G>C) c.532G>C c.271G>C (p.Gly91Arg) | |
| 9 | g.124500428C>T | CA5235442 | NR5A1 | c.532G>A (p.Gly178Arg) c.40-156G>A (n.40-156G>A) c.532G>A c.271G>A (p.Gly91Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500429G>A | CA5235443 | NR5A1 | c.531C>T (p.His177=) c.40-157C>T (n.40-157C>T) c.270C>T (p.His90=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500429G>C | CA374886933 | NR5A1 | c.531C>G (p.His177Gln) c.40-157C>G (n.40-157C>G) c.270C>G (p.His90Gln) | |
| 9 | g.124500429G= | CA1878468886 | NR5A1 | c.531C= (p.His177=) c.40-157C= (n.40-157C=) c.270C= (p.His90=) | |
| 9 | g.124500429G>T | CA374886935 | NR5A1 | c.531C>A (p.His177Gln) c.40-157C>A (n.40-157C>A) c.270C>A (p.His90Gln) | gnomAD v4 |
| 9 | g.124500430T>A | CA374886937 | NR5A1 | c.530A>T (p.His177Leu) c.40-158A>T (n.40-158A>T) c.269A>T (p.His90Leu) | |
| 9 | g.124500430T>C | CA374886940 | NR5A1 | c.530A>G (p.His177Arg) c.40-158A>G (n.40-158A>G) c.269A>G (p.His90Arg) | |
| 9 | g.124500430T>G | CA374886943 | NR5A1 | c.530A>C (p.His177Pro) c.40-158A>C (n.40-158A>C) c.269A>C (p.His90Pro) |