| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124500590dup | CA590936671 | NR5A1 | c.374dup (p.Met126AspfsTer23) c.40-314dup (n.40-314dup) c.113dup (p.Met39AspfsTer23) | gnomAD v2 |
| 9 | g.124500590del | CA2691611115 | NR5A1 | c.374del (p.Pro125ArgfsTer?) c.40-314del (n.40-314del) c.113del (p.Pro38ArgfsTer?) | gnomAD v4 |
| 9 | g.124500589G>A | CA374888339 | NR5A1 | c.371C>T (p.Pro124Leu) c.40-317C>T (n.40-317C>T) c.110C>T (p.Pro37Leu) | gnomAD v4 |
| 9 | g.124500589G>C | CA374888336 | NR5A1 | c.371C>G (p.Pro124Arg) c.40-317C>G (n.40-317C>G) c.110C>G (p.Pro37Arg) | |
| 9 | g.124500589G= | CA1878469499 | NR5A1 | c.371C= (p.Pro124=) c.40-317C= (n.40-317C=) c.110C= (p.Pro37=) | |
| 9 | g.124500589G>T | CA374888333 | NR5A1 | c.371C>A (p.Pro124His) c.40-317C>A (n.40-317C>A) c.110C>A (p.Pro37His) | dbSNP gnomAD v4 |
| 9 | g.124500590G>A | CA374888342 | NR5A1 | c.370C>T (p.Pro124Ser) c.40-318C>T (n.40-318C>T) c.109C>T (p.Pro37Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500590G>C | CA5235497 | NR5A1 | c.370C>G (p.Pro124Ala) c.40-318C>G (n.40-318C>G) c.109C>G (p.Pro37Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500590G= | CA1878469505 | NR5A1 | c.370C= (p.Pro124=) c.40-318C= (n.40-318C=) c.109C= (p.Pro37=) | |
| 9 | g.124500590G>T | CA374888347 | NR5A1 | c.370C>A (p.Pro124Thr) c.40-318C>A (n.40-318C>A) c.109C>A (p.Pro37Thr) | |
| 9 | g.124500591C>A | CA467208191 | NR5A1 | c.369G>T (p.Gly123=) c.40-319G>T (n.40-319G>T) c.108G>T (p.Gly36=) | dbSNP gnomAD v2 COSMIC |
| 9 | g.124500591C= | CA1878469508 | NR5A1 | c.369G= (p.Gly123=) c.40-319G= (n.40-319G=) c.108G= (p.Gly36=) | |
| 9 | g.124500591C>G | CA467208193 | NR5A1 | c.369G>C (p.Gly123=) c.40-319G>C (n.40-319G>C) c.108G>C (p.Gly36=) | dbSNP |
| 9 | g.124500591C>T | CA467208192 | NR5A1 | c.369G>A (p.Gly123=) c.40-319G>A (n.40-319G>A) c.108G>A (p.Gly36=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500593del | CA2695211097 | NR5A1 | c.369del (p.Pro125ArgfsTer?) c.40-319del (n.40-319del) c.108del (p.Pro38ArgfsTer?) | |
| 9 | g.124500593_124500600del | CA2695211096 | NR5A1 | c.362_369del (p.Glu121AlafsTer25) c.40-326_40-319del (n.40-326_40-319del) c.101_108del (p.Glu34AlafsTer25) | |
| 9 | g.124500592C>A | CA374888351 | NR5A1 | c.368G>T (p.Gly123Val) c.40-320G>T (n.40-320G>T) c.107G>T (p.Gly36Val) | |
| 9 | g.124500592C= | CA1878469514 | NR5A1 | c.368G= (p.Gly123=) c.40-320G= (n.40-320G=) c.107G= (p.Gly36=) | |
| 9 | g.124500592C>G | CA034488 | NR5A1 | c.368G>C (p.Gly123Ala) c.40-320G>C (n.40-320G>C) c.107G>C (p.Gly36Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500592C>T | CA374888355 | NR5A1 | c.368G>A (p.Gly123Glu) c.40-320G>A (n.40-320G>A) c.107G>A (p.Gly36Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500593C>A | CA374888358 | NR5A1 | c.367G>T (p.Gly123Trp) c.40-321G>T (n.40-321G>T) c.106G>T (p.Gly36Trp) | |
| 9 | g.124500593C>G | CA374888363 | NR5A1 | c.367G>C (p.Gly123Arg) c.40-321G>C (n.40-321G>C) c.106G>C (p.Gly36Arg) | |
| 9 | g.124500593C>T | CA374888360 | NR5A1 | c.367G>A (p.Gly123Arg) c.40-321G>A (n.40-321G>A) c.106G>A (p.Gly36Arg) | |
| 9 | g.124500594T>A | CA467208195 | NR5A1 | c.366A>T (p.Thr122=) c.40-322A>T (n.40-322A>T) c.105A>T (p.Thr35=) | |
| 9 | g.124500594T>C | CA467208196 | NR5A1 | c.366A>G (p.Thr122=) c.40-322A>G (n.40-322A>G) c.105A>G (p.Thr35=) | dbSNP |
| 9 | g.124500594T>G | CA467208197 | NR5A1 | c.366A>C (p.Thr122=) c.40-322A>C (n.40-322A>C) c.105A>C (p.Thr35=) | |
| 9 | g.124500594T= | CA1878469515 | NR5A1 | c.366A= (p.Thr122=) c.40-322A= (n.40-322A=) c.105A= (p.Thr35=) | |
| 9 | g.124500595G>A | CA374888368 | NR5A1 | c.365C>T (p.Thr122Ile) c.40-323C>T (n.40-323C>T) c.104C>T (p.Thr35Ile) | |
| 9 | g.124500595G>C | CA374888369 | NR5A1 | c.365C>G (p.Thr122Arg) c.40-323C>G (n.40-323C>G) c.104C>G (p.Thr35Arg) | |
| 9 | g.124500595G= | CA1878469517 | NR5A1 | c.365C= (p.Thr122=) c.40-323C= (n.40-323C=) c.104C= (p.Thr35=) | |
| 9 | g.124500595G>T | CA199729181 | NR5A1 | c.365C>A (p.Thr122Lys) c.40-323C>A (n.40-323C>A) c.104C>A (p.Thr35Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500596T>A | CA374888374 | NR5A1 | c.364A>T (p.Thr122Ser) c.40-324A>T (n.40-324A>T) c.103A>T (p.Thr35Ser) | |
| 9 | g.124500596T>C | CA374888376 | NR5A1 | c.364A>G (p.Thr122Ala) c.40-324A>G (n.40-324A>G) c.103A>G (p.Thr35Ala) | gnomAD v4 |
| 9 | g.124500596T>G | CA374888378 | NR5A1 | c.364A>C (p.Thr122Pro) c.40-324A>C (n.40-324A>C) c.103A>C (p.Thr35Pro) | |
| 9 | g.124500597C>A | CA374888383 | NR5A1 | c.363G>T (p.Glu121Asp) c.40-325G>T (n.40-325G>T) c.102G>T (p.Glu34Asp) | |
| 9 | g.124500597C= | CA1878469522 | NR5A1 | c.363G= (p.Glu121=) c.40-325G= (n.40-325G=) c.102G= (p.Glu34=) | |
| 9 | g.124500597C>G | CA374888388 | NR5A1 | c.363G>C (p.Glu121Asp) c.40-325G>C (n.40-325G>C) c.102G>C (p.Glu34Asp) | dbSNP |
| 9 | g.124500597C>T | CA5235498 | NR5A1 | c.363G>A (p.Glu121=) c.40-325G>A (n.40-325G>A) c.102G>A (p.Glu34=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500598T>A | CA374888394 | NR5A1 | c.362A>T (p.Glu121Val) c.40-326A>T (n.40-326A>T) c.101A>T (p.Glu34Val) | |
| 9 | g.124500598T>C | CA374888397 | NR5A1 | c.362A>G (p.Glu121Gly) c.40-326A>G (n.40-326A>G) c.101A>G (p.Glu34Gly) | |
| 9 | g.124500598T>G | CA374888400 | NR5A1 | c.362A>C (p.Glu121Ala) c.40-326A>C (n.40-326A>C) c.101A>C (p.Glu34Ala) | |
| 9 | g.124500599C>A | CA374888402 | NR5A1 | c.361G>T (p.Glu121Ter) c.40-327G>T (n.40-327G>T) c.100G>T (p.Glu34Ter) | |
| 9 | g.124500599C>G | CA374888408 | NR5A1 | c.361G>C (p.Glu121Gln) c.40-327G>C (n.40-327G>C) c.100G>C (p.Glu34Gln) | |
| 9 | g.124500599C>T | CA374888404 | NR5A1 | c.361G>A (p.Glu121Lys) c.40-327G>A (n.40-327G>A) c.100G>A (p.Glu34Lys) | gnomAD v4 |
| 9 | g.124500600C>A | CA467208199 | NR5A1 | c.360G>T (p.Leu120=) c.40-328G>T (n.40-328G>T) c.99G>T (p.Leu33=) | |
| 9 | g.124500600C= | CA1878469525 | NR5A1 | c.360G= (p.Leu120=) c.40-328G= (n.40-328G=) c.99G= (p.Leu33=) | |
| 9 | g.124500600C>G | CA467208200 | NR5A1 | c.360G>C (p.Leu120=) c.40-328G>C (n.40-328G>C) c.99G>C (p.Leu33=) | |
| 9 | g.124500600C>T | CA5235499 | NR5A1 | c.360G>A (p.Leu120=) c.40-328G>A (n.40-328G>A) c.99G>A (p.Leu33=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500601A>C | CA374888419 | NR5A1 | c.359T>G (p.Leu120Arg) c.40-329T>G (n.40-329T>G) c.98T>G (p.Leu33Arg) | |
| 9 | g.124500601A>G | CA374888420 | NR5A1 | c.359T>C (p.Leu120Pro) c.40-329T>C (n.40-329T>C) c.98T>C (p.Leu33Pro) |