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.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.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.124500476C>A | CA374887542 | NR5A1 | c.484G>T (p.Gly162Cys) c.40-204G>T (n.40-204G>T) c.223G>T (p.Gly75Cys) | |
| 9 | g.124500476C>G | CA374887539 | NR5A1 | c.484G>C (p.Gly162Arg) c.40-204G>C (n.40-204G>C) c.223G>C (p.Gly75Arg) | |
| 9 | g.124500476C>T | CA374887535 | NR5A1 | c.484G>A (p.Gly162Ser) c.40-204G>A (n.40-204G>A) c.223G>A (p.Gly75Ser) | gnomAD v4 |
| 9 | g.124500477C>A | CA467208082 | NR5A1 | c.483G>T (p.Leu161=) c.40-205G>T (n.40-205G>T) c.222G>T (p.Leu74=) | |
| 9 | g.124500477C= | CA1878469034 | NR5A1 | c.483G= (p.Leu161=) c.40-205G= (n.40-205G=) c.222G= (p.Leu74=) | |
| 9 | g.124500477C>G | CA467208083 | NR5A1 | c.483G>C (p.Leu161=) c.40-205G>C (n.40-205G>C) c.222G>C (p.Leu74=) | |
| 9 | g.124500477C>T | CA5235457 | NR5A1 | c.483G>A (p.Leu161=) c.40-205G>A (n.40-205G>A) c.222G>A (p.Leu74=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500478A>C | CA374887549 | NR5A1 | c.482T>G (p.Leu161Arg) c.40-206T>G (n.40-206T>G) c.221T>G (p.Leu74Arg) | gnomAD v4 |
| 9 | g.124500478A>G | CA374887556 | NR5A1 | c.482T>C (p.Leu161Pro) c.40-206T>C (n.40-206T>C) c.221T>C (p.Leu74Pro) | |
| 9 | g.124500478A>T | CA374887559 | NR5A1 | c.482T>A (p.Leu161Gln) c.40-206T>A (n.40-206T>A) c.221T>A (p.Leu74Gln) | |
| 9 | g.124500479G>A | CA467208084 | NR5A1 | c.481C>T (p.Leu161=) c.40-207C>T (n.40-207C>T) c.220C>T (p.Leu74=) | |
| 9 | g.124500479G>C | CA374887565 | NR5A1 | c.481C>G (p.Leu161Val) c.40-207C>G (n.40-207C>G) c.220C>G (p.Leu74Val) | |
| 9 | g.124500479G>T | CA374887568 | NR5A1 | c.481C>A (p.Leu161Met) c.40-207C>A (n.40-207C>A) c.220C>A (p.Leu74Met) | gnomAD v4 |
| 9 | g.124500480T>A | CA467208085 | NR5A1 | c.480A>T (p.Pro160=) c.40-208A>T (n.40-208A>T) c.219A>T (p.Pro73=) | |
| 9 | g.124500480T>C | CA467208087 | NR5A1 | c.480A>G (p.Pro160=) c.40-208A>G (n.40-208A>G) c.219A>G (p.Pro73=) | |
| 9 | g.124500480T>G | CA467208086 | NR5A1 | c.480A>C (p.Pro160=) c.40-208A>C (n.40-208A>C) c.219A>C (p.Pro73=) | |
| 9 | g.124500481G>A | CA374887580 | NR5A1 | c.479C>T (p.Pro160Leu) c.40-209C>T (n.40-209C>T) c.218C>T (p.Pro73Leu) | |
| 9 | g.124500481G>C | CA374887599 | NR5A1 | c.479C>G (p.Pro160Arg) c.40-209C>G (n.40-209C>G) c.218C>G (p.Pro73Arg) | |
| 9 | g.124500481G>T | CA374887582 | NR5A1 | c.479C>A (p.Pro160Gln) c.40-209C>A (n.40-209C>A) c.218C>A (p.Pro73Gln) | |
| 9 | g.124500482G>A | CA374887603 | NR5A1 | c.478C>T (p.Pro160Ser) c.40-210C>T (n.40-210C>T) c.217C>T (p.Pro73Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500482G>C | CA374887605 | NR5A1 | c.478C>G (p.Pro160Ala) c.40-210C>G (n.40-210C>G) c.217C>G (p.Pro73Ala) | |
| 9 | g.124500482G= | CA1878469037 | NR5A1 | c.478C= (p.Pro160=) c.40-210C= (n.40-210C=) c.217C= (p.Pro73=) | |
| 9 | g.124500482G>T | CA374887608 | NR5A1 | c.478C>A (p.Pro160Thr) c.40-210C>A (n.40-210C>A) c.217C>A (p.Pro73Thr) | |
| 9 | g.124500483C>A | CA467208088 | NR5A1 | c.477G>T (p.Gly159=) c.40-211G>T (n.40-211G>T) c.216G>T (p.Gly72=) | |
| 9 | g.124500483C= | CA1878469039 | NR5A1 | c.477G= (p.Gly159=) c.40-211G= (n.40-211G=) c.216G= (p.Gly72=) | |
| 9 | g.124500483C>G | CA467208089 | NR5A1 | c.477G>C (p.Gly159=) c.40-211G>C (n.40-211G>C) c.216G>C (p.Gly72=) | |
| 9 | g.124500483C>T | CA467208090 | NR5A1 | c.477G>A (p.Gly159=) c.40-211G>A (n.40-211G>A) c.216G>A (p.Gly72=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500484C>A | CA374887612 | NR5A1 | c.476G>T (p.Gly159Val) c.40-212G>T (n.40-212G>T) c.215G>T (p.Gly72Val) | |
| 9 | g.124500484C= | CA1878469043 | NR5A1 | c.476G= (p.Gly159=) c.40-212G= (n.40-212G=) c.215G= (p.Gly72=) | |
| 9 | g.124500484C>G | CA374887613 | NR5A1 | c.476G>C (p.Gly159Ala) c.40-212G>C (n.40-212G>C) c.215G>C (p.Gly72Ala) | |
| 9 | g.124500484C>T | CA199728981 | NR5A1 | c.476G>A (p.Gly159Glu) c.40-212G>A (n.40-212G>A) c.215G>A (p.Gly72Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500485C>A | CA374887614 | NR5A1 | c.475G>T (p.Gly159Trp) c.40-213G>T (n.40-213G>T) c.214G>T (p.Gly72Trp) | gnomAD v4 |
| 9 | g.124500485C= | CA1878469048 | NR5A1 | c.475G= (p.Gly159=) c.40-213G= (n.40-213G=) c.214G= (p.Gly72=) | |
| 9 | g.124500485C>G | CA374887615 | NR5A1 | c.475G>C (p.Gly159Arg) c.40-213G>C (n.40-213G>C) c.214G>C (p.Gly72Arg) | |
| 9 | g.124500485C>T | CA5235458 | NR5A1 | c.475G>A (p.Gly159Arg) c.40-213G>A (n.40-213G>A) c.214G>A (p.Gly72Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500486A= | CA1878469052 | NR5A1 | c.474T= (p.Ala158=) c.40-214T= (n.40-214T=) c.213T= (p.Ala71=) | |
| 9 | g.124500486A>C | CA467208091 | NR5A1 | c.474T>G (p.Ala158=) c.40-214T>G (n.40-214T>G) c.213T>G (p.Ala71=) | dbSNP |
| 9 | g.124500486A>G | CA467208092 | NR5A1 | c.474T>C (p.Ala158=) c.40-214T>C (n.40-214T>C) c.213T>C (p.Ala71=) | |
| 9 | g.124500486A>T | CA467208093 | NR5A1 | c.474T>A (p.Ala158=) c.40-214T>A (n.40-214T>A) c.213T>A (p.Ala71=) | |
| 9 | g.124500487G>A | CA374887622 | NR5A1 | c.473C>T (p.Ala158Val) c.40-215C>T (n.40-215C>T) c.212C>T (p.Ala71Val) | |
| 9 | g.124500487G>C | CA374887627 | NR5A1 | c.473C>G (p.Ala158Gly) c.40-215C>G (n.40-215C>G) c.212C>G (p.Ala71Gly) | |
| 9 | g.124500487G>T | CA374887631 | NR5A1 | c.473C>A (p.Ala158Asp) c.40-215C>A (n.40-215C>A) c.212C>A (p.Ala71Asp) | |
| 9 | g.124500488C>A | CA374887634 | NR5A1 | c.472G>T (p.Ala158Ser) c.40-216G>T (n.40-216G>T) c.211G>T (p.Ala71Ser) | gnomAD v4 |
| 9 | g.124500488C= | CA1878469056 | NR5A1 | c.472G= (p.Ala158=) c.40-216G= (n.40-216G=) c.211G= (p.Ala71=) | |
| 9 | g.124500488C>G | CA374887648 | NR5A1 | c.472G>C (p.Ala158Pro) c.40-216G>C (n.40-216G>C) c.211G>C (p.Ala71Pro) | |
| 9 | g.124500488C>T | CA374887642 | NR5A1 | c.472G>A (p.Ala158Thr) c.40-216G>A (n.40-216G>A) c.211G>A (p.Ala71Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.124500489A>C | CA467208094 | NR5A1 | c.471T>G (p.Pro157=) c.40-217T>G (n.40-217T>G) c.210T>G (p.Pro70=) | |
| 9 | g.124500489A>G | CA467208095 | NR5A1 | c.471T>C (p.Pro157=) c.40-217T>C (n.40-217T>C) c.210T>C (p.Pro70=) | |
| 9 | g.124500489A>T | CA467208096 | NR5A1 | c.471T>A (p.Pro157=) c.40-217T>A (n.40-217T>A) c.210T>A (p.Pro70=) | |
| 9 | g.124500490G>A | CA374887652 | NR5A1 | c.470C>T (p.Pro157Leu) c.40-218C>T (n.40-218C>T) c.209C>T (p.Pro70Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500490G>C | CA374887655 | NR5A1 | c.470C>G (p.Pro157Arg) c.40-218C>G (n.40-218C>G) c.209C>G (p.Pro70Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500490G= | CA1878469060 | NR5A1 | c.470C= (p.Pro157=) c.40-218C= (n.40-218C=) c.209C= (p.Pro70=) | |
| 9 | g.124500490G>T | CA374887660 | NR5A1 | c.470C>A (p.Pro157His) c.40-218C>A (n.40-218C>A) c.209C>A (p.Pro70His) | gnomAD v4 |
| 9 | g.124500491G>A | CA374887665 | NR5A1 | c.469C>T (p.Pro157Ser) c.40-219C>T (n.40-219C>T) c.208C>T (p.Pro70Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500491G>C | CA374887668 | NR5A1 | c.469C>G (p.Pro157Ala) c.40-219C>G (n.40-219C>G) c.208C>G (p.Pro70Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500491G= | CA1878469068 | NR5A1 | c.469C= (p.Pro157=) c.40-219C= (n.40-219C=) c.208C= (p.Pro70=) | |
| 9 | g.124500491G>T | CA374887672 | NR5A1 | c.469C>A (p.Pro157Thr) c.40-219C>A (n.40-219C>A) c.208C>A (p.Pro70Thr) | |
| 9 | g.124500491_124500500delinsGTGGACCGGC | CA1878469071 | NR5A1 | c.460_469delinsGCCGGTCCAC (p.Ala154=) c.40-228_40-219delinsGCCGGTCCAC (n.40-228_40-219delinsGCCGGTCCAC) c.199_208delinsGCCGGTCCAC (p.Ala67=) | |
| 9 | g.124500492T>A | CA467208097 | NR5A1 | c.468A>T (p.Pro156=) c.40-220A>T (n.40-220A>T) c.207A>T (p.Pro69=) | |
| 9 | g.124500492T>C | CA467208098 | NR5A1 | c.468A>G (p.Pro156=) c.40-220A>G (n.40-220A>G) c.207A>G (p.Pro69=) | |
| 9 | g.124500492T>G | CA467208099 | NR5A1 | c.468A>C (p.Pro156=) c.40-220A>C (n.40-220A>C) c.207A>C (p.Pro69=) | |
| 9 | g.124500492_124500500del | CA590936669 | NR5A1 | c.460_468del (p.Ala154_Pro156del) c.40-228_40-220del (n.40-228_40-220del) c.199_207del (p.Ala67_Pro69del) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500493G>A | CA374887677 | NR5A1 | c.467C>T (p.Pro156Leu) c.40-221C>T (n.40-221C>T) c.206C>T (p.Pro69Leu) | gnomAD v4 |
| 9 | g.124500493G>C | CA374887679 | NR5A1 | c.467C>G (p.Pro156Arg) c.40-221C>G (n.40-221C>G) c.206C>G (p.Pro69Arg) | |
| 9 | g.124500493G>T | CA374887686 | NR5A1 | c.467C>A (p.Pro156Gln) c.40-221C>A (n.40-221C>A) c.206C>A (p.Pro69Gln) | |
| 9 | g.124500494G>A | CA5235459 | NR5A1 | c.466C>T (p.Pro156Ser) c.40-222C>T (n.40-222C>T) c.205C>T (p.Pro69Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500494G>C | CA374887692 | NR5A1 | c.466C>G (p.Pro156Ala) c.40-222C>G (n.40-222C>G) c.205C>G (p.Pro69Ala) | |
| 9 | g.124500494G= | CA1878469084 | NR5A1 | c.466C= (p.Pro156=) c.40-222C= (n.40-222C=) c.205C= (p.Pro69=) | |
| 9 | g.124500494G>T | CA374887696 | NR5A1 | c.466C>A (p.Pro156Thr) c.40-222C>A (n.40-222C>A) c.205C>A (p.Pro69Thr) | |
| 9 | g.124500495A>C | CA467208100 | NR5A1 | c.465T>G (p.Gly155=) c.40-223T>G (n.40-223T>G) c.204T>G (p.Gly68=) | |
| 9 | g.124500495A>G | CA467208101 | NR5A1 | c.465T>C (p.Gly155=) c.40-223T>C (n.40-223T>C) c.204T>C (p.Gly68=) | gnomAD v4 |
| 9 | g.124500495A>T | CA467208102 | NR5A1 | c.465T>A (p.Gly155=) c.40-223T>A (n.40-223T>A) c.204T>A (p.Gly68=) | |
| 9 | g.124500496C>A | CA374887705 | NR5A1 | c.464G>T (p.Gly155Val) c.40-224G>T (n.40-224G>T) c.203G>T (p.Gly68Val) | |
| 9 | g.124500496C= | CA1878469089 | NR5A1 | c.464G= (p.Gly155=) c.40-224G= (n.40-224G=) c.203G= (p.Gly68=) | |
| 9 | g.124500496C>G | CA374887698 | NR5A1 | c.464G>C (p.Gly155Ala) c.40-224G>C (n.40-224G>C) c.203G>C (p.Gly68Ala) | |
| 9 | g.124500496C>T | CA374887701 | NR5A1 | c.464G>A (p.Gly155Asp) c.40-224G>A (n.40-224G>A) c.203G>A (p.Gly68Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500497C>A | CA5235460 | NR5A1 | c.463G>T (p.Gly155Cys) c.40-225G>T (n.40-225G>T) c.202G>T (p.Gly68Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.124500497C= | CA1878469094 | NR5A1 | c.463G= (p.Gly155=) c.40-225G= (n.40-225G=) c.202G= (p.Gly68=) | |
| 9 | g.124500497C>G | CA374887714 | NR5A1 | c.463G>C (p.Gly155Arg) c.40-225G>C (n.40-225G>C) c.202G>C (p.Gly68Arg) | |
| 9 | g.124500497C>T | CA5235461 | NR5A1 | c.463G>A (p.Gly155Ser) c.40-225G>A (n.40-225G>A) c.202G>A (p.Gly68Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500498G>A | CA5235462 | NR5A1 | c.462C>T (p.Ala154=) c.40-226C>T (n.40-226C>T) c.201C>T (p.Ala67=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500498G>C | CA467208103 | NR5A1 | c.462C>G (p.Ala154=) c.40-226C>G (n.40-226C>G) c.201C>G (p.Ala67=) | gnomAD v4 COSMIC |
| 9 | g.124500498G= | CA1878469101 | NR5A1 | c.462C= (p.Ala154=) c.40-226C= (n.40-226C=) c.201C= (p.Ala67=) | |
| 9 | g.124500498G>T | CA467208104 | NR5A1 | c.462C>A (p.Ala154=) c.40-226C>A (n.40-226C>A) c.201C>A (p.Ala67=) | |
| 9 | g.124500499G>A | CA374887715 | NR5A1 | c.461C>T (p.Ala154Val) c.40-227C>T (n.40-227C>T) c.200C>T (p.Ala67Val) | gnomAD v4 |
| 9 | g.124500499G>C | CA374887718 | NR5A1 | c.461C>G (p.Ala154Gly) c.40-227C>G (n.40-227C>G) c.200C>G (p.Ala67Gly) | |
| 9 | g.124500499G>T | CA374887720 | NR5A1 | c.461C>A (p.Ala154Asp) c.40-227C>A (n.40-227C>A) c.200C>A (p.Ala67Asp) | |
| 9 | g.124500500C>A | CA374887723 | NR5A1 | c.460G>T (p.Ala154Ser) c.40-228G>T (n.40-228G>T) c.199G>T (p.Ala67Ser) | dbSNP |
| 9 | g.124500500C= | CA1878469105 | NR5A1 | c.460G= (p.Ala154=) c.40-228G= (n.40-228G=) c.199G= (p.Ala67=) | |
| 9 | g.124500500C>G | CA374887728 | NR5A1 | c.460G>C (p.Ala154Pro) c.40-228G>C (n.40-228G>C) c.199G>C (p.Ala67Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500500C>T | CA5235463 | NR5A1 | c.460G>A (p.Ala154Thr) c.40-228G>A (n.40-228G>A) c.199G>A (p.Ala67Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500501G>A | CA5235464 | NR5A1 | c.459C>T (p.Ala153=) c.40-229C>T (n.40-229C>T) c.198C>T (p.Ala66=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500501G>C | CA467208105 | NR5A1 | c.459C>G (p.Ala153=) c.40-229C>G (n.40-229C>G) c.198C>G (p.Ala66=) | dbSNP gnomAD v4 |
| 9 | g.124500501G= | CA1878469113 | NR5A1 | c.459C= (p.Ala153=) c.40-229C= (n.40-229C=) c.198C= (p.Ala66=) | |
| 9 | g.124500501G>T | CA467208106 | NR5A1 | c.459C>A (p.Ala153=) c.40-229C>A (n.40-229C>A) c.198C>A (p.Ala66=) | gnomAD v4 |
| 9 | g.124500502G>A | CA374887745 | NR5A1 | c.458C>T (p.Ala153Val) c.40-230C>T (n.40-230C>T) c.197C>T (p.Ala66Val) | gnomAD v4 |
| 9 | g.124500502G>C | CA374887743 | NR5A1 | c.458C>G (p.Ala153Gly) c.40-230C>G (n.40-230C>G) c.197C>G (p.Ala66Gly) | |
| 9 | g.124500502G= | CA1878469120 | NR5A1 | c.458C= (p.Ala153=) c.40-230C= (n.40-230C=) c.197C= (p.Ala66=) | |
| 9 | g.124500502G>T | CA374887741 | NR5A1 | c.458C>A (p.Ala153Asp) c.40-230C>A (n.40-230C>A) c.197C>A (p.Ala66Asp) | dbSNP |
| 9 | g.124500503C>A | CA374887747 | NR5A1 | c.457G>T (p.Ala153Ser) c.40-231G>T (n.40-231G>T) c.196G>T (p.Ala66Ser) | gnomAD v4 |
| 9 | g.124500503C>G | CA374887753 | NR5A1 | c.457G>C (p.Ala153Pro) c.40-231G>C (n.40-231G>C) c.196G>C (p.Ala66Pro) | |
| 9 | g.124500503C>T | CA374887749 | NR5A1 | c.457G>A (p.Ala153Thr) c.40-231G>A (n.40-231G>A) c.196G>A (p.Ala66Thr) | gnomAD v4 |
| 9 | g.124500504C>A | CA467208107 | NR5A1 | c.456G>T (p.Leu152=) c.40-232G>T (n.40-232G>T) c.195G>T (p.Leu65=) | gnomAD v4 |
| 9 | g.124500504C>G | CA467208108 | NR5A1 | c.456G>C (p.Leu152=) c.40-232G>C (n.40-232G>C) c.195G>C (p.Leu65=) | gnomAD v4 |
| 9 | g.124500504C>T | CA467208109 | NR5A1 | c.456G>A (p.Leu152=) c.40-232G>A (n.40-232G>A) c.195G>A (p.Leu65=) | |
| 9 | g.124500505A= | CA1878469127 | NR5A1 | c.455T= (p.Leu152=) c.40-233T= (n.40-233T=) c.194T= (p.Leu65=) | |
| 9 | g.124500505A>C | CA374887754 | NR5A1 | c.455T>G (p.Leu152Arg) c.40-233T>G (n.40-233T>G) c.194T>G (p.Leu65Arg) | |
| 9 | g.124500505A>G | CA374887756 | NR5A1 | c.455T>C (p.Leu152Pro) c.40-233T>C (n.40-233T>C) c.194T>C (p.Leu65Pro) | dbSNP |
| 9 | g.124500505A>T | CA374887755 | NR5A1 | c.455T>A (p.Leu152Gln) c.40-233T>A (n.40-233T>A) c.194T>A (p.Leu65Gln) | |
| 9 | g.124500506G>A | CA467208110 | NR5A1 | c.454C>T (p.Leu152=) c.40-234C>T (n.40-234C>T) c.193C>T (p.Leu65=) | |
| 9 | g.124500506G>C | CA374887758 | NR5A1 | c.454C>G (p.Leu152Val) c.40-234C>G (n.40-234C>G) c.193C>G (p.Leu65Val) | |
| 9 | g.124500506G>T | CA374887759 | NR5A1 | c.454C>A (p.Leu152Met) c.40-234C>A (n.40-234C>A) c.193C>A (p.Leu65Met) | |
| 9 | g.124500507G>A | CA467208113 | NR5A1 | c.453C>T (p.Gly151=) c.40-235C>T (n.40-235C>T) c.192C>T (p.Gly64=) | dbSNP |
| 9 | g.124500507G>C | CA467208112 | NR5A1 | c.453C>G (p.Gly151=) c.40-235C>G (n.40-235C>G) c.192C>G (p.Gly64=) | |
| 9 | g.124500507G= | CA1878469131 | NR5A1 | c.453C= (p.Gly151=) c.40-235C= (n.40-235C=) c.192C= (p.Gly64=) | |
| 9 | g.124500507G>T | CA467208111 | NR5A1 | c.453C>A (p.Gly151=) c.40-235C>A (n.40-235C>A) c.192C>A (p.Gly64=) | |
| 9 | g.124500508C>A | CA374887761 | NR5A1 | c.452G>T (p.Gly151Val) c.40-236G>T (n.40-236G>T) c.191G>T (p.Gly64Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500508C= | CA1878469136 | NR5A1 | c.452G= (p.Gly151=) c.40-236G= (n.40-236G=) c.191G= (p.Gly64=) | |
| 9 | g.124500508C>G | CA374887764 | NR5A1 | c.452G>C (p.Gly151Ala) c.40-236G>C (n.40-236G>C) c.191G>C (p.Gly64Ala) | |
| 9 | g.124500508C>T | CA374887766 | NR5A1 | c.452G>A (p.Gly151Asp) c.40-236G>A (n.40-236G>A) c.191G>A (p.Gly64Asp) | |
| 9 | g.124500509C>A | CA374887769 | NR5A1 | c.451G>T (p.Gly151Cys) c.40-237G>T (n.40-237G>T) c.190G>T (p.Gly64Cys) | COSMIC |
| 9 | g.124500509C= | CA1878469140 | NR5A1 | c.451G= (p.Gly151=) c.40-237G= (n.40-237G=) c.190G= (p.Gly64=) | |
| 9 | g.124500509C>G | CA374887773 | NR5A1 | c.451G>C (p.Gly151Arg) c.40-237G>C (n.40-237G>C) c.190G>C (p.Gly64Arg) | |
| 9 | g.124500509C>T | CA374887776 | NR5A1 | c.451G>A (p.Gly151Ser) c.40-237G>A (n.40-237G>A) c.190G>A (p.Gly64Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.124500510C>A | CA374887779 | NR5A1 | c.450G>T (p.Lys150Asn) c.40-238G>T (n.40-238G>T) c.189G>T (p.Lys63Asn) | |
| 9 | g.124500510C= | CA1878469144 | NR5A1 | c.450G= (p.Lys150=) c.40-238G= (n.40-238G=) c.189G= (p.Lys63=) | |
| 9 | g.124500510C>G | CA374887781 | NR5A1 | c.450G>C (p.Lys150Asn) c.40-238G>C (n.40-238G>C) c.189G>C (p.Lys63Asn) | |
| 9 | g.124500510C>T | CA467208114 | NR5A1 | c.450G>A (p.Lys150=) c.40-238G>A (n.40-238G>A) c.189G>A (p.Lys63=) | dbSNP |
| 9 | g.124500511T>A | CA374887784 | NR5A1 | c.449A>T (p.Lys150Met) c.40-239A>T (n.40-239A>T) c.188A>T (p.Lys63Met) | |
| 9 | g.124500511T>C | CA374887787 | NR5A1 | c.449A>G (p.Lys150Arg) c.40-239A>G (n.40-239A>G) c.188A>G (p.Lys63Arg) | dbSNP gnomAD v4 |
| 9 | g.124500511T>G | CA374887795 | NR5A1 | c.449A>C (p.Lys150Thr) c.40-239A>C (n.40-239A>C) c.188A>C (p.Lys63Thr) | |
| 9 | g.124500511T= | CA1878469147 | NR5A1 | c.449A= (p.Lys150=) c.40-239A= (n.40-239A=) c.188A= (p.Lys63=) | |
| 9 | g.124500512T>A | CA374887798 | NR5A1 | c.448A>T (p.Lys150Ter) c.40-240A>T (n.40-240A>T) c.187A>T (p.Lys63Ter) | |
| 9 | g.124500512T>C | CA374887800 | NR5A1 | c.448A>G (p.Lys150Glu) c.40-240A>G (n.40-240A>G) c.187A>G (p.Lys63Glu) | |
| 9 | g.124500512T>G | CA374887799 | NR5A1 | c.448A>C (p.Lys150Gln) c.40-240A>C (n.40-240A>C) c.187A>C (p.Lys63Gln) | |
| 9 | g.124500513G>A | CA467208115 | NR5A1 | c.447C>T (p.Pro149=) c.40-241C>T (n.40-241C>T) c.186C>T (p.Pro62=) | |
| 9 | g.124500513G>C | CA467208117 | NR5A1 | c.447C>G (p.Pro149=) c.40-241C>G (n.40-241C>G) c.186C>G (p.Pro62=) | |
| 9 | g.124500513G>T | CA467208116 | NR5A1 | c.447C>A (p.Pro149=) c.40-241C>A (n.40-241C>A) c.186C>A (p.Pro62=) | |
| 9 | g.124500514G>A | CA5235465 | NR5A1 | c.446C>T (p.Pro149Leu) c.40-242C>T (n.40-242C>T) c.185C>T (p.Pro62Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500514G>C | CA374887804 | NR5A1 | c.446C>G (p.Pro149Arg) c.40-242C>G (n.40-242C>G) c.185C>G (p.Pro62Arg) | |
| 9 | g.124500514G= | CA1878469150 | NR5A1 | c.446C= (p.Pro149=) c.40-242C= (n.40-242C=) c.185C= (p.Pro62=) | |
| 9 | g.124500514G>T | CA374887806 | NR5A1 | c.446C>A (p.Pro149His) c.40-242C>A (n.40-242C>A) c.185C>A (p.Pro62His) | |
| 9 | g.124500515G>A | CA5235466 | NR5A1 | c.445C>T (p.Pro149Ser) c.40-243C>T (n.40-243C>T) c.184C>T (p.Pro62Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500515G>C | CA374887809 | NR5A1 | c.445C>G (p.Pro149Ala) c.40-243C>G (n.40-243C>G) c.184C>G (p.Pro62Ala) | |
| 9 | g.124500515G= | CA1878469152 | NR5A1 | c.445C= (p.Pro149=) c.40-243C= (n.40-243C=) c.184C= (p.Pro62=) | |
| 9 | g.124500515G>T | CA374887811 | NR5A1 | c.445C>A (p.Pro149Thr) c.40-243C>A (n.40-243C>A) c.184C>A (p.Pro62Thr) | |
| 9 | g.124500516C>A | CA374887812 | NR5A1 | c.444G>T (p.Glu148Asp) c.40-244G>T (n.40-244G>T) c.183G>T (p.Glu61Asp) | |
| 9 | g.124500516C= | CA1878469158 | NR5A1 | c.444G= (p.Glu148=) c.40-244G= (n.40-244G=) c.183G= (p.Glu61=) | |
| 9 | g.124500516C>G | CA374887813 | NR5A1 | c.444G>C (p.Glu148Asp) c.40-244G>C (n.40-244G>C) c.183G>C (p.Glu61Asp) | |
| 9 | g.124500516C>T | CA5235467 | NR5A1 | c.444G>A (p.Glu148=) c.40-244G>A (n.40-244G>A) c.183G>A (p.Glu61=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500517T>A | CA374887823 | NR5A1 | c.443A>T (p.Glu148Val) c.40-245A>T (n.40-245A>T) c.182A>T (p.Glu61Val) | |
| 9 | g.124500517T>C | CA374887821 | NR5A1 | c.443A>G (p.Glu148Gly) c.40-245A>G (n.40-245A>G) c.182A>G (p.Glu61Gly) | |
| 9 | g.124500517T>G | CA374887819 | NR5A1 | c.443A>C (p.Glu148Ala) c.40-245A>C (n.40-245A>C) c.182A>C (p.Glu61Ala) | dbSNP gnomAD v2 |
| 9 | g.124500517T= | CA1878469163 | NR5A1 | c.443A= (p.Glu148=) c.40-245A= (n.40-245A=) c.182A= (p.Glu61=) | |
| 9 | g.124500518del | CA2695211094 | NR5A1 | c.442del (p.Glu148SerfsTer?) c.40-246del (n.40-246del) c.181del (p.Glu61SerfsTer?) | |
| 9 | g.124500518C>A | CA374887825 | NR5A1 | c.442G>T (p.Glu148Ter) c.40-246G>T (n.40-246G>T) c.181G>T (p.Glu61Ter) | |
| 9 | g.124500518C= | CA1878469168 | NR5A1 | c.442G= (p.Glu148=) c.40-246G= (n.40-246G=) c.181G= (p.Glu61=) | |
| 9 | g.124500518C>G | CA374887827 | NR5A1 | c.442G>C (p.Glu148Gln) c.40-246G>C (n.40-246G>C) c.181G>C (p.Glu61Gln) | |
| 9 | g.124500518C>T | CA374887830 | NR5A1 | c.442G>A (p.Glu148Lys) c.40-246G>A (n.40-246G>A) c.181G>A (p.Glu61Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500519A>C | CA467208118 | NR5A1 | c.441T>G (p.Pro147=) c.40-247T>G (n.40-247T>G) c.180T>G (p.Pro60=) | |
| 9 | g.124500519A>G | CA467208119 | NR5A1 | c.441T>C (p.Pro147=) c.40-247T>C (n.40-247T>C) c.180T>C (p.Pro60=) | gnomAD v4 |
| 9 | g.124500519A>T | CA467208120 | NR5A1 | c.441T>A (p.Pro147=) c.40-247T>A (n.40-247T>A) c.180T>A (p.Pro60=) | gnomAD v4 |
| 9 | g.124500520G>A | CA374887831 | NR5A1 | c.440C>T (p.Pro147Leu) c.40-248C>T (n.40-248C>T) c.179C>T (p.Pro60Leu) | |
| 9 | g.124500520G>C | CA374887832 | NR5A1 | c.440C>G (p.Pro147Arg) c.40-248C>G (n.40-248C>G) c.179C>G (p.Pro60Arg) | |
| 9 | g.124500520G>T | CA374887836 | NR5A1 | c.440C>A (p.Pro147His) c.40-248C>A (n.40-248C>A) c.179C>A (p.Pro60His) | |
| 9 | g.124500521G>A | CA374887839 | NR5A1 | c.439C>T (p.Pro147Ser) c.40-249C>T (n.40-249C>T) c.178C>T (p.Pro60Ser) | gnomAD v4 |
| 9 | g.124500521G>C | CA374887841 | NR5A1 | c.439C>G (p.Pro147Ala) c.40-249C>G (n.40-249C>G) c.178C>G (p.Pro60Ala) | |
| 9 | g.124500521G>T | CA374887842 | NR5A1 | c.439C>A (p.Pro147Thr) c.40-249C>A (n.40-249C>A) c.178C>A (p.Pro60Thr) | gnomAD v4 |
| 9 | g.124500522C>A | CA467208122 | NR5A1 | c.438G>T (p.Gly146=) c.40-250G>T (n.40-250G>T) c.177G>T (p.Gly59=) | gnomAD v4 |
| 9 | g.124500522C= | CA1878469174 | NR5A1 | c.438G= (p.Gly146=) c.40-250G= (n.40-250G=) c.177G= (p.Gly59=) | |
| 9 | g.124500522C>G | CA467208121 | NR5A1 | c.438G>C (p.Gly146=) c.40-250G>C (n.40-250G>C) c.177G>C (p.Gly59=) | |
| 9 | g.124500522C>T | CA5235468 | NR5A1 | c.438G>A (p.Gly146=) c.40-250G>A (n.40-250G>A) c.177G>A (p.Gly59=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500522_124500523delinsTG | CA2740095598 | NR5A1 | c.437_438delinsCA (p.Gly146Ala) c.40-251_40-250delinsCA (n.40-251_40-250delinsCA) c.176_177delinsCA (p.Gly59Ala) | ClinVar |
| 9 | g.124500523C>A | CA374887846 | NR5A1 | c.437G>T (p.Gly146Val) c.40-251G>T (n.40-251G>T) c.176G>T (p.Gly59Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500523C= | CA1878469186 | NR5A1 | c.437G= (p.Gly146=) c.40-251G= (n.40-251G=) c.176G= (p.Gly59=) | |
| 9 | g.124500523C>G | CA5235469 | NR5A1 | c.437G>C (p.Gly146Ala) c.40-251G>C (n.40-251G>C) c.176G>C (p.Gly59Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500523C>T | CA374887853 | NR5A1 | c.437G>A (p.Gly146Glu) c.40-251G>A (n.40-251G>A) c.176G>A (p.Gly59Glu) | gnomAD v4 |
| 9 | g.124500524C>A | CA374887856 | NR5A1 | c.436G>T (p.Gly146Trp) c.40-252G>T (n.40-252G>T) c.175G>T (p.Gly59Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500524C= | CA1878469196 | NR5A1 | c.436G= (p.Gly146=) c.40-252G= (n.40-252G=) c.175G= (p.Gly59=) | |
| 9 | g.124500524C>G | CA374887859 | NR5A1 | c.436G>C (p.Gly146Arg) c.40-252G>C (n.40-252G>C) c.175G>C (p.Gly59Arg) | |
| 9 | g.124500524C>T | CA374887857 | NR5A1 | c.436G>A (p.Gly146Arg) c.40-252G>A (n.40-252G>A) c.175G>A (p.Gly59Arg) | |
| 9 | g.124500525A= | CA1878469198 | NR5A1 | c.435T= (p.His145=) c.40-253T= (n.40-253T=) c.174T= (p.His58=) | |
| 9 | g.124500525A>C | CA374887860 | NR5A1 | c.435T>G (p.His145Gln) c.40-253T>G (n.40-253T>G) c.174T>G (p.His58Gln) | |
| 9 | g.124500525A>G | CA467208123 | NR5A1 | c.435T>C (p.His145=) c.40-253T>C (n.40-253T>C) c.174T>C (p.His58=) | dbSNP |
| 9 | g.124500525A>T | CA374887862 | NR5A1 | c.435T>A (p.His145Gln) c.40-253T>A (n.40-253T>A) c.174T>A (p.His58Gln) | |
| 9 | g.124500526T>A | CA374887865 | NR5A1 | c.434A>T (p.His145Leu) c.40-254A>T (n.40-254A>T) c.173A>T (p.His58Leu) | |
| 9 | g.124500526T>C | CA374887869 | NR5A1 | c.434A>G (p.His145Arg) c.40-254A>G (n.40-254A>G) c.173A>G (p.His58Arg) | |
| 9 | g.124500526T>G | CA374887871 | NR5A1 | c.434A>C (p.His145Pro) c.40-254A>C (n.40-254A>C) c.173A>C (p.His58Pro) | ClinVar |
| 9 | g.124500527G>A | CA374887874 | NR5A1 | c.433C>T (p.His145Tyr) c.40-255C>T (n.40-255C>T) c.172C>T (p.His58Tyr) | dbSNP |
| 9 | g.124500527G>C | CA374887877 | NR5A1 | c.433C>G (p.His145Asp) c.40-255C>G (n.40-255C>G) c.172C>G (p.His58Asp) | |
| 9 | g.124500527G= | CA1878469208 | NR5A1 | c.433C= (p.His145=) c.40-255C= (n.40-255C=) c.172C= (p.His58=) | |
| 9 | g.124500527G>T | CA374887879 | NR5A1 | c.433C>A (p.His145Asn) c.40-255C>A (n.40-255C>A) c.172C>A (p.His58Asn) | |
| 9 | g.124500528C>A | CA467208124 | NR5A1 | c.432G>T (p.Leu144=) c.40-256G>T (n.40-256G>T) c.171G>T (p.Leu57=) | dbSNP gnomAD v4 |
| 9 | g.124500528C= | CA1878469238 | NR5A1 | c.432G= (p.Leu144=) c.40-256G= (n.40-256G=) c.171G= (p.Leu57=) | |
| 9 | g.124500528C>G | CA467208125 | NR5A1 | c.432G>C (p.Leu144=) c.40-256G>C (n.40-256G>C) c.171G>C (p.Leu57=) | |
| 9 | g.124500528C>T | CA467208126 | NR5A1 | c.432G>A (p.Leu144=) c.40-256G>A (n.40-256G>A) c.171G>A (p.Leu57=) | |
| 9 | g.124500529A= | CA1878469241 | NR5A1 | c.431T= (p.Leu144=) c.40-257T= (n.40-257T=) c.170T= (p.Leu57=) | |
| 9 | g.124500529A>C | CA374887882 | NR5A1 | c.431T>G (p.Leu144Arg) c.40-257T>G (n.40-257T>G) c.170T>G (p.Leu57Arg) | |
| 9 | g.124500529A>G | CA374887884 | NR5A1 | c.431T>C (p.Leu144Pro) c.40-257T>C (n.40-257T>C) c.170T>C (p.Leu57Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500529A>T | CA374887887 | NR5A1 | c.431T>A (p.Leu144Gln) c.40-257T>A (n.40-257T>A) c.170T>A (p.Leu57Gln) | |
| 9 | g.124500530G>A | CA467208127 | NR5A1 | c.430C>T (p.Leu144=) c.40-258C>T (n.40-258C>T) c.169C>T (p.Leu57=) | gnomAD v4 |
| 9 | g.124500530G>C | CA374887894 | NR5A1 | c.430C>G (p.Leu144Val) c.40-258C>G (n.40-258C>G) c.169C>G (p.Leu57Val) | |
| 9 | g.124500530G>T | CA374887892 | NR5A1 | c.430C>A (p.Leu144Met) c.40-258C>A (n.40-258C>A) c.169C>A (p.Leu57Met) | |
| 9 | g.124500531G>A | CA467208128 | NR5A1 | c.429C>T (p.Ser143=) c.40-259C>T (n.40-259C>T) c.168C>T (p.Ser56=) | |
| 9 | g.124500531G>C | CA374887897 | NR5A1 | c.429C>G (p.Ser143Arg) c.40-259C>G (n.40-259C>G) c.168C>G (p.Ser56Arg) | gnomAD v4 |
| 9 | g.124500531G>T | CA374887899 | NR5A1 | c.429C>A (p.Ser143Arg) c.40-259C>A (n.40-259C>A) c.168C>A (p.Ser56Arg) | |
| 9 | g.124500532C>A | CA374887903 | NR5A1 | c.428G>T (p.Ser143Ile) c.40-260G>T (n.40-260G>T) c.167G>T (p.Ser56Ile) | |
| 9 | g.124500532C= | CA1878469244 | NR5A1 | c.428G= (p.Ser143=) c.40-260G= (n.40-260G=) c.167G= (p.Ser56=) | |
| 9 | g.124500532C>G | CA199729024 | NR5A1 | c.428G>C (p.Ser143Thr) c.40-260G>C (n.40-260G>C) c.167G>C (p.Ser56Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500532C>T | CA374887910 | NR5A1 | c.428G>A (p.Ser143Asn) c.40-260G>A (n.40-260G>A) c.167G>A (p.Ser56Asn) | gnomAD v4 |
| 9 | g.124500532_124500533insCA | CA2579449072 | NR5A1 | c.427_428insTG (p.Ser143MetfsTer?) c.40-261_40-260insTG (n.40-261_40-260insTG) c.166_167insTG (p.Ser56MetfsTer?) | |
| 9 | g.124500533T>A | CA374887913 | NR5A1 | c.427A>T (p.Ser143Cys) c.40-261A>T (n.40-261A>T) c.166A>T (p.Ser56Cys) | |
| 9 | g.124500533T>C | CA374887914 | NR5A1 | c.427A>G (p.Ser143Gly) c.40-261A>G (n.40-261A>G) c.166A>G (p.Ser56Gly) | |
| 9 | g.124500533T>G | CA374887919 | NR5A1 | c.427A>C (p.Ser143Arg) c.40-261A>C (n.40-261A>C) c.166A>C (p.Ser56Arg) | |
| 9 | g.124500533_124500536dup | CA2695211095 | NR5A1 | c.424_427dup (p.Ser143ThrfsTer7) c.40-264_40-261dup (n.40-264_40-261dup) c.163_166dup (p.Ser56ThrfsTer7) | |
| 9 | g.124500534G>A | CA467208129 | NR5A1 | c.426C>T (p.Pro142=) c.40-262C>T (n.40-262C>T) c.165C>T (p.Pro55=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500534G>C | CA467208130 | NR5A1 | c.426C>G (p.Pro142=) c.40-262C>G (n.40-262C>G) c.165C>G (p.Pro55=) | |
| 9 | g.124500534G= | CA1878469246 | NR5A1 | c.426C= (p.Pro142=) c.40-262C= (n.40-262C=) c.165C= (p.Pro55=) | |
| 9 | g.124500534G>T | CA467208131 | NR5A1 | c.426C>A (p.Pro142=) c.40-262C>A (n.40-262C>A) c.165C>A (p.Pro55=) | gnomAD v4 |
| 9 | g.124500536del | CA2579449073 | NR5A1 | c.426del (p.Ser143AlafsTer?) c.40-262del (n.40-262del) c.165del (p.Ser56AlafsTer?) | gnomAD v4 |
| 9 | g.124500535G>A | CA374887921 | NR5A1 | c.425C>T (p.Pro142Leu) c.40-263C>T (n.40-263C>T) c.164C>T (p.Pro55Leu) | COSMIC |
| 9 | g.124500535G>C | CA374887922 | NR5A1 | c.425C>G (p.Pro142Arg) c.40-263C>G (n.40-263C>G) c.164C>G (p.Pro55Arg) | |
| 9 | g.124500535G>T | CA374887925 | NR5A1 | c.425C>A (p.Pro142His) c.40-263C>A (n.40-263C>A) c.164C>A (p.Pro55His) | |
| 9 | g.124500536G>A | CA374887928 | NR5A1 | c.424C>T (p.Pro142Ser) c.40-264C>T (n.40-264C>T) c.163C>T (p.Pro55Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500536G>C | CA374887936 | NR5A1 | c.424C>G (p.Pro142Ala) c.40-264C>G (n.40-264C>G) c.163C>G (p.Pro55Ala) | |
| 9 | g.124500536G= | CA1878469252 | NR5A1 | c.424C= (p.Pro142=) c.40-264C= (n.40-264C=) c.163C= (p.Pro55=) | |
| 9 | g.124500536G>T | CA374887944 | NR5A1 | c.424C>A (p.Pro142Thr) c.40-264C>A (n.40-264C>A) c.163C>A (p.Pro55Thr) | |
| 9 | g.124500537_124500538del | CA2579449074 | NR5A1 | c.423_424del (p.Pro142GlnfsTer6) c.40-265_40-264del (n.40-265_40-264del) c.162_163del (p.Pro55GlnfsTer6) | |
| 9 | g.124500537A>C | CA467208132 | NR5A1 | c.423T>G (p.Pro141=) c.40-265T>G (n.40-265T>G) c.162T>G (p.Pro54=) | |
| 9 | g.124500537A>G | CA467208133 | NR5A1 | c.423T>C (p.Pro141=) c.40-265T>C (n.40-265T>C) c.162T>C (p.Pro54=) | gnomAD v4 |
| 9 | g.124500537A>T | CA467208134 | NR5A1 | c.423T>A (p.Pro141=) c.40-265T>A (n.40-265T>A) c.162T>A (p.Pro54=) | |
| 9 | g.124500538G>A | CA374887956 | NR5A1 | c.422C>T (p.Pro141Leu) c.40-266C>T (n.40-266C>T) c.161C>T (p.Pro54Leu) | gnomAD v4 |
| 9 | g.124500538G>C | CA374887948 | NR5A1 | c.422C>G (p.Pro141Arg) c.40-266C>G (n.40-266C>G) c.161C>G (p.Pro54Arg) | |
| 9 | g.124500538G>T | CA374887953 | NR5A1 | c.422C>A (p.Pro141His) c.40-266C>A (n.40-266C>A) c.161C>A (p.Pro54His) | |
| 9 | g.124500539G>A | CA5235470 | NR5A1 | c.421C>T (p.Pro141Ser) c.40-267C>T (n.40-267C>T) c.160C>T (p.Pro54Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500539G>C | CA374887961 | NR5A1 | c.421C>G (p.Pro141Ala) c.40-267C>G (n.40-267C>G) c.160C>G (p.Pro54Ala) | |
| 9 | g.124500539G= | CA1878469264 | NR5A1 | c.421C= (p.Pro141=) c.40-267C= (n.40-267C=) c.160C= (p.Pro54=) | |
| 9 | g.124500539G>T | CA374887964 | NR5A1 | c.421C>A (p.Pro141Thr) c.40-267C>A (n.40-267C>A) c.160C>A (p.Pro54Thr) | gnomAD v4 |
| 9 | g.124500540C>A | CA467208135 | NR5A1 | c.420G>T (p.Leu140=) c.40-268G>T (n.40-268G>T) c.159G>T (p.Leu53=) | gnomAD v4 |
| 9 | g.124500540C= | CA1878469273 | NR5A1 | c.420G= (p.Leu140=) c.40-268G= (n.40-268G=) c.159G= (p.Leu53=) | |
| 9 | g.124500540C>G | CA467208136 | NR5A1 | c.420G>C (p.Leu140=) c.40-268G>C (n.40-268G>C) c.159G>C (p.Leu53=) | |
| 9 | g.124500540C>T | CA5235471 | NR5A1 | c.420G>A (p.Leu140=) c.40-268G>A (n.40-268G>A) c.159G>A (p.Leu53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500541A>C | CA374887977 | NR5A1 | c.419T>G (p.Leu140Arg) c.40-269T>G (n.40-269T>G) c.158T>G (p.Leu53Arg) | |
| 9 | g.124500541A>G | CA374887980 | NR5A1 | c.419T>C (p.Leu140Pro) c.40-269T>C (n.40-269T>C) c.158T>C (p.Leu53Pro) | |
| 9 | g.124500541A>T | CA374887983 | NR5A1 | c.419T>A (p.Leu140Gln) c.40-269T>A (n.40-269T>A) c.158T>A (p.Leu53Gln) | |
| 9 | g.124500542G>A | CA467208137 | NR5A1 | c.418C>T (p.Leu140=) c.40-270C>T (n.40-270C>T) c.157C>T (p.Leu53=) | |
| 9 | g.124500542G>C | CA374887986 | NR5A1 | c.418C>G (p.Leu140Val) c.40-270C>G (n.40-270C>G) c.157C>G (p.Leu53Val) | |
| 9 | g.124500542G>T | CA374887990 | NR5A1 | c.418C>A (p.Leu140Met) c.40-270C>A (n.40-270C>A) c.157C>A (p.Leu53Met) | gnomAD v4 |
| 9 | g.124500543C>A | CA467208138 | NR5A1 | c.417G>T (p.Val139=) c.40-271G>T (n.40-271G>T) c.156G>T (p.Val52=) | |
| 9 | g.124500543C= | CA1878469282 | NR5A1 | c.417G= (p.Val139=) c.40-271G= (n.40-271G=) c.156G= (p.Val52=) | |
| 9 | g.124500543C>G | CA467208140 | NR5A1 | c.417G>C (p.Val139=) c.40-271G>C (n.40-271G>C) c.156G>C (p.Val52=) | |
| 9 | g.124500543C>T | CA467208139 | NR5A1 | c.417G>A (p.Val139=) c.40-271G>A (n.40-271G>A) c.156G>A (p.Val52=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500544A>C | CA374887994 | NR5A1 | c.416T>G (p.Val139Gly) c.40-272T>G (n.40-272T>G) c.155T>G (p.Val52Gly) | |
| 9 | g.124500544A>G | CA374887999 | NR5A1 | c.416T>C (p.Val139Ala) c.40-272T>C (n.40-272T>C) c.155T>C (p.Val52Ala) | gnomAD v4 |
| 9 | g.124500544A>T | CA374888000 | NR5A1 | c.416T>A (p.Val139Glu) c.40-272T>A (n.40-272T>A) c.155T>A (p.Val52Glu) | gnomAD v4 |
| 9 | g.124500545C>A | CA374888008 | NR5A1 | c.415G>T (p.Val139Leu) c.40-273G>T (n.40-273G>T) c.154G>T (p.Val52Leu) | |
| 9 | g.124500545C= | CA1878469289 | NR5A1 | c.415G= (p.Val139=) c.40-273G= (n.40-273G=) c.154G= (p.Val52=) | |
| 9 | g.124500545C>G | CA374888011 | NR5A1 | c.415G>C (p.Val139Leu) c.40-273G>C (n.40-273G>C) c.154G>C (p.Val52Leu) | gnomAD v4 |
| 9 | g.124500545C>T | CA374888005 | NR5A1 | c.415G>A (p.Val139Met) c.40-273G>A (n.40-273G>A) c.154G>A (p.Val52Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500546G>A | CA5235472 | NR5A1 | c.414C>T (p.Tyr138=) c.40-274C>T (n.40-274C>T) c.153C>T (p.Tyr51=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500546G>C | CA374888018 | NR5A1 | c.414C>G (p.Tyr138Ter) c.40-274C>G (n.40-274C>G) c.153C>G (p.Tyr51Ter) | |
| 9 | g.124500546G= | CA1878469297 | NR5A1 | c.414C= (p.Tyr138=) c.40-274C= (n.40-274C=) c.153C= (p.Tyr51=) | |
| 9 | g.124500546G>T | CA374888026 | NR5A1 | c.414C>A (p.Tyr138Ter) c.40-274C>A (n.40-274C>A) c.153C>A (p.Tyr51Ter) | |
| 9 | g.124500547T>A | CA374888029 | NR5A1 | c.413A>T (p.Tyr138Phe) c.40-275A>T (n.40-275A>T) c.152A>T (p.Tyr51Phe) | |
| 9 | g.124500547T>C | CA5235473 | NR5A1 | c.413A>G (p.Tyr138Cys) c.40-275A>G (n.40-275A>G) c.152A>G (p.Tyr51Cys) | dbSNP ExAC gnomAD v2 |
| 9 | g.124500547T>G | CA374888035 | NR5A1 | c.413A>C (p.Tyr138Ser) c.40-275A>C (n.40-275A>C) c.152A>C (p.Tyr51Ser) | |
| 9 | g.124500547T= | CA1878469301 | NR5A1 | c.413A= (p.Tyr138=) c.40-275A= (n.40-275A=) c.152A= (p.Tyr51=) | |
| 9 | g.124500548A>C | CA374888045 | NR5A1 | c.412T>G (p.Tyr138Asp) c.40-276T>G (n.40-276T>G) c.151T>G (p.Tyr51Asp) | gnomAD v4 |
| 9 | g.124500548A>G | CA374888039 | NR5A1 | c.412T>C (p.Tyr138His) c.40-276T>C (n.40-276T>C) c.151T>C (p.Tyr51His) | |
| 9 | g.124500548A>T | CA374888042 | NR5A1 | c.412T>A (p.Tyr138Asn) c.40-276T>A (n.40-276T>A) c.151T>A (p.Tyr51Asn) | |
| 9 | g.124500549G>A | CA467208142 | NR5A1 | c.411C>T (p.Asp137=) c.40-277C>T (n.40-277C>T) c.150C>T (p.Asp50=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500549G>C | CA374888054 | NR5A1 | c.411C>G (p.Asp137Glu) c.40-277C>G (n.40-277C>G) c.150C>G (p.Asp50Glu) | |
| 9 | g.124500549G= | CA1878469308 | NR5A1 | c.411C= (p.Asp137=) c.40-277C= (n.40-277C=) c.150C= (p.Asp50=) | |
| 9 | g.124500549G>T | CA374888057 | NR5A1 | c.411C>A (p.Asp137Glu) c.40-277C>A (n.40-277C>A) c.150C>A (p.Asp50Glu) | |
| 9 | g.124500550T>A | CA374888060 | NR5A1 | c.410A>T (p.Asp137Val) c.40-278A>T (n.40-278A>T) c.149A>T (p.Asp50Val) | |
| 9 | g.124500550T>C | CA374888063 | NR5A1 | c.410A>G (p.Asp137Gly) c.40-278A>G (n.40-278A>G) c.149A>G (p.Asp50Gly) | |
| 9 | g.124500550T>G | CA374888066 | NR5A1 | c.410A>C (p.Asp137Ala) c.40-278A>C (n.40-278A>C) c.149A>C (p.Asp50Ala) | |
| 9 | g.124500551C>A | CA374888068 | NR5A1 | c.409G>T (p.Asp137Tyr) c.40-279G>T (n.40-279G>T) c.148G>T (p.Asp50Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500551C= | CA1878469312 | NR5A1 | c.409G= (p.Asp137=) c.40-279G= (n.40-279G=) c.148G= (p.Asp50=) | |
| 9 | g.124500551C>G | CA374888073 | NR5A1 | c.409G>C (p.Asp137His) c.40-279G>C (n.40-279G>C) c.148G>C (p.Asp50His) | |
| 9 | g.124500551C>T | CA5235474 | NR5A1 | c.409G>A (p.Asp137Asn) c.40-279G>A (n.40-279G>A) c.148G>A (p.Asp50Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500552C>A | CA467208143 | NR5A1 | c.408G>T (p.Pro136=) c.40-280G>T (n.40-280G>T) c.147G>T (p.Pro49=) | |
| 9 | g.124500552C= | CA1878469318 | NR5A1 | c.408G= (p.Pro136=) c.40-280G= (n.40-280G=) c.147G= (p.Pro49=) | |
| 9 | g.124500552C>G | CA467208145 | NR5A1 | c.408G>C (p.Pro136=) c.40-280G>C (n.40-280G>C) c.147G>C (p.Pro49=) | |
| 9 | g.124500552C>T | CA5235475 | NR5A1 | c.408G>A (p.Pro136=) c.40-280G>A (n.40-280G>A) c.147G>A (p.Pro49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500553G>A | CA5235476 | NR5A1 | c.407C>T (p.Pro136Leu) c.40-281C>T (n.40-281C>T) c.146C>T (p.Pro49Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500553G>C | CA374888083 | NR5A1 | c.407C>G (p.Pro136Arg) c.40-281C>G (n.40-281C>G) c.146C>G (p.Pro49Arg) | gnomAD v4 |
| 9 | g.124500553G= | CA1878469327 | NR5A1 | c.407C= (p.Pro136=) c.40-281C= (n.40-281C=) c.146C= (p.Pro49=) | |
| 9 | g.124500553G>T | CA5235477 | NR5A1 | c.407C>A (p.Pro136Gln) c.40-281C>A (n.40-281C>A) c.146C>A (p.Pro49Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500554G>A | CA374888087 | NR5A1 | c.406C>T (p.Pro136Ser) c.40-282C>T (n.40-282C>T) c.145C>T (p.Pro49Ser) | |
| 9 | g.124500554G>C | CA374888090 | NR5A1 | c.406C>G (p.Pro136Ala) c.40-282C>G (n.40-282C>G) c.145C>G (p.Pro49Ala) | |
| 9 | g.124500554G>T | CA374888092 | NR5A1 | c.406C>A (p.Pro136Thr) c.40-282C>A (n.40-282C>A) c.145C>A (p.Pro49Thr) | gnomAD v4 |
| 9 | g.124500555T>A | CA467208146 | NR5A1 | c.405A>T (p.Ala135=) c.40-283A>T (n.40-283A>T) c.144A>T (p.Ala48=) | |
| 9 | g.124500555T>C | CA467208147 | NR5A1 | c.405A>G (p.Ala135=) c.40-283A>G (n.40-283A>G) c.144A>G (p.Ala48=) | |
| 9 | g.124500555T>G | CA467208148 | NR5A1 | c.405A>C (p.Ala135=) c.40-283A>C (n.40-283A>C) c.144A>C (p.Ala48=) | |
| 9 | g.124500556G>A | CA374888099 | NR5A1 | c.404C>T (p.Ala135Val) c.40-284C>T (n.40-284C>T) c.143C>T (p.Ala48Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500556G>C | CA374888101 | NR5A1 | c.404C>G (p.Ala135Gly) c.40-284C>G (n.40-284C>G) c.143C>G (p.Ala48Gly) | |
| 9 | g.124500556G= | CA1878469337 | NR5A1 | c.404C= (p.Ala135=) c.40-284C= (n.40-284C=) c.143C= (p.Ala48=) | |
| 9 | g.124500556G>T | CA374888104 | NR5A1 | c.404C>A (p.Ala135Glu) c.40-284C>A (n.40-284C>A) c.143C>A (p.Ala48Glu) | gnomAD v4 |
| 9 | g.124500557C>A | CA374888107 | NR5A1 | c.403G>T (p.Ala135Ser) c.40-285G>T (n.40-285G>T) c.142G>T (p.Ala48Ser) | |
| 9 | g.124500557C= | CA1878469341 | NR5A1 | c.403G= (p.Ala135=) c.40-285G= (n.40-285G=) c.142G= (p.Ala48=) | |
| 9 | g.124500557C>G | CA374888109 | NR5A1 | c.403G>C (p.Ala135Pro) c.40-285G>C (n.40-285G>C) c.142G>C (p.Ala48Pro) | |
| 9 | g.124500557C>T | CA5235478 | NR5A1 | c.403G>A (p.Ala135Thr) c.40-285G>A (n.40-285G>A) c.142G>A (p.Ala48Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500558G>A | CA5235479 | NR5A1 | c.402C>T (p.Pro134=) c.40-286C>T (n.40-286C>T) c.141C>T (p.Pro47=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500558G>C | CA467208152 | NR5A1 | c.402C>G (p.Pro134=) c.40-286C>G (n.40-286C>G) c.141C>G (p.Pro47=) | |
| 9 | g.124500558G= | CA1878469346 | NR5A1 | c.402C= (p.Pro134=) c.40-286C= (n.40-286C=) c.141C= (p.Pro47=) | |
| 9 | g.124500558G>T | CA467208153 | NR5A1 | c.402C>A (p.Pro134=) c.40-286C>A (n.40-286C>A) c.141C>A (p.Pro47=) | gnomAD v4 |
| 9 | g.124500559G>A | CA374888122 | NR5A1 | c.401C>T (p.Pro134Leu) c.40-287C>T (n.40-287C>T) c.140C>T (p.Pro47Leu) | dbSNP gnomAD v2 COSMIC |
| 9 | g.124500559G>C | CA374888119 | NR5A1 | c.401C>G (p.Pro134Arg) c.40-287C>G (n.40-287C>G) c.140C>G (p.Pro47Arg) | |
| 9 | g.124500559G= | CA1878469348 | NR5A1 | c.401C= (p.Pro134=) c.40-287C= (n.40-287C=) c.140C= (p.Pro47=) | |
| 9 | g.124500559G>T | CA374888125 | NR5A1 | c.401C>A (p.Pro134His) c.40-287C>A (n.40-287C>A) c.140C>A (p.Pro47His) | gnomAD v4 |
| 9 | g.124500560G>A | CA199729071 | NR5A1 | c.400C>T (p.Pro134Ser) c.40-288C>T (n.40-288C>T) c.139C>T (p.Pro47Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500560G>C | CA374888134 | NR5A1 | c.400C>G (p.Pro134Ala) c.40-288C>G (n.40-288C>G) c.139C>G (p.Pro47Ala) | |
| 9 | g.124500560G= | CA1878469349 | NR5A1 | c.400C= (p.Pro134=) c.40-288C= (n.40-288C=) c.139C= (p.Pro47=) | |
| 9 | g.124500560G>T | CA374888131 | NR5A1 | c.400C>A (p.Pro134Thr) c.40-288C>A (n.40-288C>A) c.139C>A (p.Pro47Thr) | |
| 9 | g.124500561A>C | CA467208156 | NR5A1 | c.399T>G (p.Pro133=) c.40-289T>G (n.40-289T>G) c.138T>G (p.Pro46=) | |
| 9 | g.124500561A>G | CA467208157 | NR5A1 | c.399T>C (p.Pro133=) c.40-289T>C (n.40-289T>C) c.138T>C (p.Pro46=) | |
| 9 | g.124500561A>T | CA467208158 | NR5A1 | c.399T>A (p.Pro133=) c.40-289T>A (n.40-289T>A) c.138T>A (p.Pro46=) | |
| 9 | g.124500561_124500562delinsAG | CA1878469350 | NR5A1 | c.398_399delinsCT (p.Pro133=) c.40-290_40-289delinsCT (n.40-290_40-289delinsCT) c.137_138delinsCT (p.Pro46=) | |
| 9 | g.124500562G>A | CA374888137 | NR5A1 | c.398C>T (p.Pro133Leu) c.40-290C>T (n.40-290C>T) c.137C>T (p.Pro46Leu) | gnomAD v4 |
| 9 | g.124500562G>C | CA374888143 | NR5A1 | c.398C>G (p.Pro133Arg) c.40-290C>G (n.40-290C>G) c.137C>G (p.Pro46Arg) | |
| 9 | g.124500562G>T | CA374888140 | NR5A1 | c.398C>A (p.Pro133His) c.40-290C>A (n.40-290C>A) c.137C>A (p.Pro46His) | |
| 9 | g.124500566dup | CA2785906236 | NR5A1 | c.398dup (p.Pro134SerfsTer15) c.40-290dup (n.40-290dup) c.137dup (p.Pro47SerfsTer15) | |
| 9 | g.124500566del | CA915947131 | NR5A1 | c.398del (p.Pro133LeufsTer?) c.40-290del (n.40-290del) c.137del (p.Pro46LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 9 | g.124500563G>A | CA374888146 | NR5A1 | c.397C>T (p.Pro133Ser) c.40-291C>T (n.40-291C>T) c.136C>T (p.Pro46Ser) | dbSNP gnomAD v4 |
| 9 | g.124500563G>C | CA374888148 | NR5A1 | c.397C>G (p.Pro133Ala) c.40-291C>G (n.40-291C>G) c.136C>G (p.Pro46Ala) | |
| 9 | g.124500563G= | CA1878469352 | NR5A1 | c.397C= (p.Pro133=) c.40-291C= (n.40-291C=) c.136C= (p.Pro46=) | |
| 9 | g.124500563G>T | CA374888150 | NR5A1 | c.397C>A (p.Pro133Thr) c.40-291C>A (n.40-291C>A) c.136C>A (p.Pro46Thr) | gnomAD v4 |
| 9 | g.124500564G>A | CA467208159 | NR5A1 | c.396C>T (p.Pro132=) c.40-292C>T (n.40-292C>T) c.135C>T (p.Pro45=) | dbSNP |
| 9 | g.124500564G>C | CA467208162 | NR5A1 | c.396C>G (p.Pro132=) c.40-292C>G (n.40-292C>G) c.135C>G (p.Pro45=) | |
| 9 | g.124500564G= | CA1878469353 | NR5A1 | c.396C= (p.Pro132=) c.40-292C= (n.40-292C=) c.135C= (p.Pro45=) | |
| 9 | g.124500564G>T | CA467208160 | NR5A1 | c.396C>A (p.Pro132=) c.40-292C>A (n.40-292C>A) c.135C>A (p.Pro45=) | |
| 9 | g.124500565G>A | CA374888155 | NR5A1 | c.395C>T (p.Pro132Leu) c.40-293C>T (n.40-293C>T) c.134C>T (p.Pro45Leu) | gnomAD v4 |
| 9 | g.124500565G>C | CA374888157 | NR5A1 | c.395C>G (p.Pro132Arg) c.40-293C>G (n.40-293C>G) c.134C>G (p.Pro45Arg) | |
| 9 | g.124500565G>T | CA374888159 | NR5A1 | c.395C>A (p.Pro132His) c.40-293C>A (n.40-293C>A) c.134C>A (p.Pro45His) | gnomAD v4 |
| 9 | g.124500566G>A | CA374888161 | NR5A1 | c.394C>T (p.Pro132Ser) c.40-294C>T (n.40-294C>T) c.133C>T (p.Pro45Ser) | gnomAD v4 |
| 9 | g.124500566G>C | CA374888162 | NR5A1 | c.394C>G (p.Pro132Ala) c.40-294C>G (n.40-294C>G) c.133C>G (p.Pro45Ala) | |
| 9 | g.124500566G= | CA1878469354 | NR5A1 | c.394C= (p.Pro132=) c.40-294C= (n.40-294C=) c.133C= (p.Pro45=) | |
| 9 | g.124500566G>T | CA5235480 | NR5A1 | c.394C>A (p.Pro132Thr) c.40-294C>A (n.40-294C>A) c.133C>A (p.Pro45Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500567C>A | CA5235482 | NR5A1 | c.393G>T (p.Pro131=) c.40-295G>T (n.40-295G>T) c.132G>T (p.Pro44=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500567C= | CA1878469357 | NR5A1 | c.393G= (p.Pro131=) c.40-295G= (n.40-295G=) c.132G= (p.Pro44=) | |
| 9 | g.124500567C>G | CA467208165 | NR5A1 | c.393G>C (p.Pro131=) c.40-295G>C (n.40-295G>C) c.132G>C (p.Pro44=) | |
| 9 | g.124500567C>T | CA5235481 | NR5A1 | c.393G>A (p.Pro131=) c.40-295G>A (n.40-295G>A) c.132G>A (p.Pro44=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500568G>A | CA128717 | NR5A1 | c.392C>T (p.Pro131Leu) c.40-296C>T (n.40-296C>T) c.131C>T (p.Pro44Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500568G>C | CA374888170 | NR5A1 | c.392C>G (p.Pro131Arg) c.40-296C>G (n.40-296C>G) c.131C>G (p.Pro44Arg) | |
| 9 | g.124500568G= | CA1878469361 | NR5A1 | c.392C= (p.Pro131=) c.40-296C= (n.40-296C=) c.131C= (p.Pro44=) | |
| 9 | g.124500568G>T | CA374888168 | NR5A1 | c.392C>A (p.Pro131Gln) c.40-296C>A (n.40-296C>A) c.131C>A (p.Pro44Gln) | |
| 9 | g.124500569G>A | CA374888174 | NR5A1 | c.391C>T (p.Pro131Ser) c.40-297C>T (n.40-297C>T) c.130C>T (p.Pro44Ser) | gnomAD v4 COSMIC |
| 9 | g.124500569G>C | CA374888177 | NR5A1 | c.391C>G (p.Pro131Ala) c.40-297C>G (n.40-297C>G) c.130C>G (p.Pro44Ala) | |
| 9 | g.124500569G>T | CA374888183 | NR5A1 | c.391C>A (p.Pro131Thr) c.40-297C>A (n.40-297C>A) c.130C>A (p.Pro44Thr) | gnomAD v4 |
| 9 | g.124500569_124500570delinsGC | CA1878469367 | NR5A1 | c.390_391delinsGC (p.Pro130=) c.40-298_40-297delinsGC (n.40-298_40-297delinsGC) c.129_130delinsGC (p.Pro43=) | |
| 9 | g.124500570del | CA122723 | NR5A1 | c.390del (p.Pro131ArgfsTer?) c.40-298del (n.40-298del) c.129del (p.Pro44ArgfsTer?) | ClinVar dbSNP |
| 9 | g.124500570C>A | CA5235484 | NR5A1 | c.390G>T (p.Pro130=) c.40-298G>T (n.40-298G>T) c.129G>T (p.Pro43=) | dbSNP ExAC gnomAD v4 |
| 9 | g.124500570C= | CA1878469386 | NR5A1 | c.390G= (p.Pro130=) c.40-298G= (n.40-298G=) c.129G= (p.Pro43=) | |
| 9 | g.124500570C>G | CA467208167 | NR5A1 | c.390G>C (p.Pro130=) c.40-298G>C (n.40-298G>C) c.129G>C (p.Pro43=) | gnomAD v4 |
| 9 | g.124500570C>T | CA5235483 | NR5A1 | c.390G>A (p.Pro130=) c.40-298G>A (n.40-298G>A) c.129G>A (p.Pro43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500571G>A | CA5235485 | NR5A1 | c.389C>T (p.Pro130Leu) c.40-299C>T (n.40-299C>T) c.128C>T (p.Pro43Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500571G>C | CA374888204 | NR5A1 | c.389C>G (p.Pro130Arg) c.40-299C>G (n.40-299C>G) c.128C>G (p.Pro43Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500571G= | CA1878469395 | NR5A1 | c.389C= (p.Pro130=) c.40-299C= (n.40-299C=) c.128C= (p.Pro43=) | |
| 9 | g.124500571G>T | CA374888207 | NR5A1 | c.389C>A (p.Pro130Gln) c.40-299C>A (n.40-299C>A) c.128C>A (p.Pro43Gln) | gnomAD v4 |
| 9 | g.124500575dup | CA2691611112 | NR5A1 | c.389dup (p.Pro131AlafsTer18) c.40-299dup (n.40-299dup) c.128dup (p.Pro44AlafsTer18) | gnomAD v4 |
| 9 | g.124500575del | CA2691611113 | NR5A1 | c.389del (p.Pro130ArgfsTer?) c.40-299del (n.40-299del) c.128del (p.Pro43ArgfsTer?) | gnomAD v4 |
| 9 | g.124500572G>A | CA374888211 | NR5A1 | c.388C>T (p.Pro130Ser) c.40-300C>T (n.40-300C>T) c.127C>T (p.Pro43Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500572G>C | CA374888212 | NR5A1 | c.388C>G (p.Pro130Ala) c.40-300C>G (n.40-300C>G) c.127C>G (p.Pro43Ala) | |
| 9 | g.124500572G= | CA1878469399 | NR5A1 | c.388C= (p.Pro130=) c.40-300C= (n.40-300C=) c.127C= (p.Pro43=) | |
| 9 | g.124500572G>T | CA374888214 | NR5A1 | c.388C>A (p.Pro130Thr) c.40-300C>A (n.40-300C>A) c.127C>A (p.Pro43Thr) | |
| 9 | g.124500573G>A | CA467208171 | NR5A1 | c.387C>T (p.Pro129=) c.40-301C>T (n.40-301C>T) c.126C>T (p.Pro42=) | gnomAD v4 |
| 9 | g.124500573G>C | CA5235486 | NR5A1 | c.387C>G (p.Pro129=) c.40-301C>G (n.40-301C>G) c.126C>G (p.Pro42=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500573G= | CA1878469404 | NR5A1 | c.387C= (p.Pro129=) c.40-301C= (n.40-301C=) c.126C= (p.Pro42=) | |
| 9 | g.124500573G>T | CA467208172 | NR5A1 | c.387C>A (p.Pro129=) c.40-301C>A (n.40-301C>A) c.126C>A (p.Pro42=) | |
| 9 | g.124500574G>A | CA034644 | NR5A1 | c.386C>T (p.Pro129Leu) c.40-302C>T (n.40-302C>T) c.125C>T (p.Pro42Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.[124500574G>A;124500592C>G] | CA034655 | NR5A1 | c.[368G>C;386C>T] (p.[Gly123Ala;Pro129Leu]) c.[40-320G>C;40-302C>T] (n.[40-320G>C;40-302C>T]) c.[107G>C;125C>T] (p.[Gly36Ala;Pro42Leu]) | ClinVar |
| 9 | g.124500574G>C | CA374888222 | NR5A1 | c.386C>G (p.Pro129Arg) c.40-302C>G (n.40-302C>G) c.125C>G (p.Pro42Arg) | |
| 9 | g.124500574G= | CA1878469434 | NR5A1 | c.386C= (p.Pro129=) c.40-302C= (n.40-302C=) c.125C= (p.Pro42=) | |
| 9 | g.124500574G>T | CA374888226 | NR5A1 | c.386C>A (p.Pro129His) c.40-302C>A (n.40-302C>A) c.125C>A (p.Pro42His) | |
| 9 | g.124500575G>A | CA374888230 | NR5A1 | c.385C>T (p.Pro129Ser) c.40-303C>T (n.40-303C>T) c.124C>T (p.Pro42Ser) | gnomAD v4 |
| 9 | g.124500575G>C | CA374888232 | NR5A1 | c.385C>G (p.Pro129Ala) c.40-303C>G (n.40-303C>G) c.124C>G (p.Pro42Ala) | |
| 9 | g.124500575G>T | CA374888236 | NR5A1 | c.385C>A (p.Pro129Thr) c.40-303C>A (n.40-303C>A) c.124C>A (p.Pro42Thr) | gnomAD v4 |
| 9 | g.124500576C>A | CA467208175 | NR5A1 | c.384G>T (p.Val128=) c.40-304G>T (n.40-304G>T) c.123G>T (p.Val41=) | |
| 9 | g.124500576C= | CA1878469442 | NR5A1 | c.384G= (p.Val128=) c.40-304G= (n.40-304G=) c.123G= (p.Val41=) | |
| 9 | g.124500576C>G | CA467208176 | NR5A1 | c.384G>C (p.Val128=) c.40-304G>C (n.40-304G>C) c.123G>C (p.Val41=) | dbSNP gnomAD v2 |
| 9 | g.124500576C>T | CA5235487 | NR5A1 | c.384G>A (p.Val128=) c.40-304G>A (n.40-304G>A) c.123G>A (p.Val41=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |