| 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.124500474G>A | CA5235454 | NR5A1 | c.486C>T (p.Gly162=) c.40-202C>T (n.40-202C>T) c.225C>T (p.Gly75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500474G>C | CA5235455 | NR5A1 | c.486C>G (p.Gly162=) c.40-202C>G (n.40-202C>G) c.225C>G (p.Gly75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500474G= | CA1878469022 | NR5A1 | c.486C= (p.Gly162=) c.40-202C= (n.40-202C=) c.225C= (p.Gly75=) | |
| 9 | g.124500474G>T | CA5235456 | NR5A1 | c.486C>A (p.Gly162=) c.40-202C>A (n.40-202C>A) c.225C>A (p.Gly75=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500475C>A | CA374887521 | NR5A1 | c.485G>T (p.Gly162Val) c.40-203G>T (n.40-203G>T) c.224G>T (p.Gly75Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500475C= | CA1878469030 | NR5A1 | c.485G= (p.Gly162=) c.40-203G= (n.40-203G=) c.224G= (p.Gly75=) | |
| 9 | g.124500475C>G | CA374887526 | NR5A1 | c.485G>C (p.Gly162Ala) c.40-203G>C (n.40-203G>C) c.224G>C (p.Gly75Ala) | |
| 9 | g.124500475C>T | CA374887529 | NR5A1 | c.485G>A (p.Gly162Asp) c.40-203G>A (n.40-203G>A) c.224G>A (p.Gly75Asp) | gnomAD v4 |
| 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) |