| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 9 | g.124500577A>C | CA374888242 | NR5A1 | c.383T>G (p.Val128Gly) c.40-305T>G (n.40-305T>G) c.122T>G (p.Val41Gly) | gnomAD v4 |
| 9 | g.124500577A>G | CA374888246 | NR5A1 | c.383T>C (p.Val128Ala) c.40-305T>C (n.40-305T>C) c.122T>C (p.Val41Ala) | |
| 9 | g.124500577A>T | CA374888248 | NR5A1 | c.383T>A (p.Val128Glu) c.40-305T>A (n.40-305T>A) c.122T>A (p.Val41Glu) | |
| 9 | g.124500578C>A | CA374888252 | NR5A1 | c.382G>T (p.Val128Leu) c.40-306G>T (n.40-306G>T) c.121G>T (p.Val41Leu) | |
| 9 | g.124500578C= | CA1878469446 | NR5A1 | c.382G= (p.Val128=) c.40-306G= (n.40-306G=) c.121G= (p.Val41=) | |
| 9 | g.124500578C>G | CA374888254 | NR5A1 | c.382G>C (p.Val128Leu) c.40-306G>C (n.40-306G>C) c.121G>C (p.Val41Leu) | |
| 9 | g.124500578C>T | CA5235488 | NR5A1 | c.382G>A (p.Val128Met) c.40-306G>A (n.40-306G>A) c.121G>A (p.Val41Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500582del | CA2691611114 | NR5A1 | c.382del (p.Val128CysfsTer?) c.40-306del (n.40-306del) c.121del (p.Val41CysfsTer?) | gnomAD v4 |
| 9 | g.124500579C>A | CA467208177 | NR5A1 | c.381G>T (p.Gly127=) c.40-307G>T (n.40-307G>T) c.120G>T (p.Gly40=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500579C= | CA1878469449 | NR5A1 | c.381G= (p.Gly127=) c.40-307G= (n.40-307G=) c.120G= (p.Gly40=) | |
| 9 | g.124500579C>G | CA467208178 | NR5A1 | c.381G>C (p.Gly127=) c.40-307G>C (n.40-307G>C) c.120G>C (p.Gly40=) | dbSNP gnomAD v2 |
| 9 | g.124500579C>T | CA5235489 | NR5A1 | c.381G>A (p.Gly127=) c.40-307G>A (n.40-307G>A) c.120G>A (p.Gly40=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500580C>A | CA374888272 | NR5A1 | c.380G>T (p.Gly127Val) c.40-308G>T (n.40-308G>T) c.119G>T (p.Gly40Val) | |
| 9 | g.124500580C= | CA1878469452 | NR5A1 | c.380G= (p.Gly127=) c.40-308G= (n.40-308G=) c.119G= (p.Gly40=) | |
| 9 | g.124500580C>G | CA374888260 | NR5A1 | c.380G>C (p.Gly127Ala) c.40-308G>C (n.40-308G>C) c.119G>C (p.Gly40Ala) | |
| 9 | g.124500580C>T | CA5235490 | NR5A1 | c.380G>A (p.Gly127Glu) c.40-308G>A (n.40-308G>A) c.119G>A (p.Gly40Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500581C>A | CA374888275 | NR5A1 | c.379G>T (p.Gly127Trp) c.40-309G>T (n.40-309G>T) c.118G>T (p.Gly40Trp) | |
| 9 | g.124500581C= | CA1878469457 | NR5A1 | c.379G= (p.Gly127=) c.40-309G= (n.40-309G=) c.118G= (p.Gly40=) | |
| 9 | g.124500581C>G | CA374888278 | NR5A1 | c.379G>C (p.Gly127Arg) c.40-309G>C (n.40-309G>C) c.118G>C (p.Gly40Arg) | |
| 9 | g.124500581C>T | CA374888281 | NR5A1 | c.379G>A (p.Gly127Arg) c.40-309G>A (n.40-309G>A) c.118G>A (p.Gly40Arg) | dbSNP |
| 9 | g.124500582C>A | CA374888286 | NR5A1 | c.378G>T (p.Met126Ile) c.40-310G>T (n.40-310G>T) c.117G>T (p.Met39Ile) | |
| 9 | g.124500582C= | CA1878469461 | NR5A1 | c.378G= (p.Met126=) c.40-310G= (n.40-310G=) c.117G= (p.Met39=) | |
| 9 | g.124500582C>G | CA374888288 | NR5A1 | c.378G>C (p.Met126Ile) c.40-310G>C (n.40-310G>C) c.117G>C (p.Met39Ile) | |
| 9 | g.124500582C>T | CA5235491 | NR5A1 | c.378G>A (p.Met126Ile) c.40-310G>A (n.40-310G>A) c.117G>A (p.Met39Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500583A= | CA1878469466 | NR5A1 | c.377T= (p.Met126=) c.40-311T= (n.40-311T=) c.116T= (p.Met39=) | |
| 9 | g.124500583A>C | CA374888294 | NR5A1 | c.377T>G (p.Met126Arg) c.40-311T>G (n.40-311T>G) c.116T>G (p.Met39Arg) | gnomAD v4 |
| 9 | g.124500583A>G | CA374888297 | NR5A1 | c.377T>C (p.Met126Thr) c.40-311T>C (n.40-311T>C) c.116T>C (p.Met39Thr) | gnomAD v4 |
| 9 | g.124500583A>T | CA5235492 | NR5A1 | c.377T>A (p.Met126Lys) c.40-311T>A (n.40-311T>A) c.116T>A (p.Met39Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500584T>A | CA374888303 | NR5A1 | c.376A>T (p.Met126Leu) c.40-312A>T (n.40-312A>T) c.115A>T (p.Met39Leu) | |
| 9 | g.124500584T>C | CA374888306 | NR5A1 | c.376A>G (p.Met126Val) c.40-312A>G (n.40-312A>G) c.115A>G (p.Met39Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500584T>G | CA374888309 | NR5A1 | c.376A>C (p.Met126Leu) c.40-312A>C (n.40-312A>C) c.115A>C (p.Met39Leu) | |
| 9 | g.124500584T= | CA1878469472 | NR5A1 | c.376A= (p.Met126=) c.40-312A= (n.40-312A=) c.115A= (p.Met39=) | |
| 9 | g.124500585C>A | CA467208185 | NR5A1 | c.375G>T (p.Pro125=) c.40-313G>T (n.40-313G>T) c.114G>T (p.Pro38=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500585C= | CA1878469475 | NR5A1 | c.375G= (p.Pro125=) c.40-313G= (n.40-313G=) c.114G= (p.Pro38=) | |
| 9 | g.124500585C>G | CA467208184 | NR5A1 | c.375G>C (p.Pro125=) c.40-313G>C (n.40-313G>C) c.114G>C (p.Pro38=) | |
| 9 | g.124500585C>T | CA5235493 | NR5A1 | c.375G>A (p.Pro125=) c.40-313G>A (n.40-313G>A) c.114G>A (p.Pro38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |