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.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 |
| 9 | g.124500586G>A | CA5235495 | NR5A1 | c.374C>T (p.Pro125Leu) c.40-314C>T (n.40-314C>T) c.113C>T (p.Pro38Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500586G>C | CA374888315 | NR5A1 | c.374C>G (p.Pro125Arg) c.40-314C>G (n.40-314C>G) c.113C>G (p.Pro38Arg) | |
| 9 | g.124500586G= | CA1878469485 | NR5A1 | c.374C= (p.Pro125=) c.40-314C= (n.40-314C=) c.113C= (p.Pro38=) | |
| 9 | g.124500586G>T | CA5235494 | NR5A1 | c.374C>A (p.Pro125Gln) c.40-314C>A (n.40-314C>A) c.113C>A (p.Pro38Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500586_124500587delinsAA | CA645548668 | NR5A1 | c.373_374delinsTT (p.Pro125Leu) c.40-315_40-314delinsTT (n.40-315_40-314delinsTT) c.112_113delinsTT (p.Pro38Leu) | COSMIC |
| 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.124500587G>A | CA374888321 | NR5A1 | c.373C>T (p.Pro125Ser) c.40-315C>T (n.40-315C>T) c.112C>T (p.Pro38Ser) | dbSNP gnomAD v2 |
| 9 | g.124500587G>C | CA374888323 | NR5A1 | c.373C>G (p.Pro125Ala) c.40-315C>G (n.40-315C>G) c.112C>G (p.Pro38Ala) | |
| 9 | g.124500587G= | CA1878469492 | NR5A1 | c.373C= (p.Pro125=) c.40-315C= (n.40-315C=) c.112C= (p.Pro38=) | |
| 9 | g.124500587G>T | CA374888325 | NR5A1 | c.373C>A (p.Pro125Thr) c.40-315C>A (n.40-315C>A) c.112C>A (p.Pro38Thr) | |
| 9 | g.124500588G>A | CA467208190 | NR5A1 | c.372C>T (p.Pro124=) c.40-316C>T (n.40-316C>T) c.111C>T (p.Pro37=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500588G>C | CA5235496 | NR5A1 | c.372C>G (p.Pro124=) c.40-316C>G (n.40-316C>G) c.111C>G (p.Pro37=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500588G= | CA1878469495 | NR5A1 | c.372C= (p.Pro124=) c.40-316C= (n.40-316C=) c.111C= (p.Pro37=) | |
| 9 | g.124500588G>T | CA467208188 | NR5A1 | c.372C>A (p.Pro124=) c.40-316C>A (n.40-316C>A) c.111C>A (p.Pro37=) | |
| 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.124500598_124500599dup | CA2785906237 | NR5A1 | c.363_364dup (p.Thr122ArgfsTer?) c.40-325_40-324dup (n.40-325_40-324dup) c.102_103dup (p.Thr35ArgfsTer?) | |
| 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) | |
| 9 | g.124500601A>T | CA374888421 | NR5A1 | c.359T>A (p.Leu120Gln) c.40-329T>A (n.40-329T>A) c.98T>A (p.Leu33Gln) | |
| 9 | g.124500602G>A | CA467208202 | NR5A1 | c.358C>T (p.Leu120=) c.40-330C>T (n.40-330C>T) c.97C>T (p.Leu33=) | |
| 9 | g.124500602G>C | CA374888425 | NR5A1 | c.358C>G (p.Leu120Val) c.40-330C>G (n.40-330C>G) c.97C>G (p.Leu33Val) | |
| 9 | g.124500602G>T | CA374888430 | NR5A1 | c.358C>A (p.Leu120Met) c.40-330C>A (n.40-330C>A) c.97C>A (p.Leu33Met) | gnomAD v4 |
| 9 | g.124500603C>A | CA374888434 | NR5A1 | c.357G>T (p.Lys119Asn) c.40-331G>T (n.40-331G>T) c.96G>T (p.Lys32Asn) | |
| 9 | g.124500603C>G | CA374888444 | NR5A1 | c.357G>C (p.Lys119Asn) c.40-331G>C (n.40-331G>C) c.96G>C (p.Lys32Asn) | |
| 9 | g.124500603C>T | CA467208203 | NR5A1 | c.357G>A (p.Lys119=) c.40-331G>A (n.40-331G>A) c.96G>A (p.Lys32=) | |
| 9 | g.124500604T>A | CA374888449 | NR5A1 | c.356A>T (p.Lys119Met) c.40-332A>T (n.40-332A>T) c.95A>T (p.Lys32Met) | |
| 9 | g.124500604T>C | CA374888451 | NR5A1 | c.356A>G (p.Lys119Arg) c.40-332A>G (n.40-332A>G) c.95A>G (p.Lys32Arg) | |
| 9 | g.124500604T>G | CA374888452 | NR5A1 | c.356A>C (p.Lys119Thr) c.40-332A>C (n.40-332A>C) c.95A>C (p.Lys32Thr) | |
| 9 | g.124500605T>A | CA374888457 | NR5A1 | c.355A>T (p.Lys119Ter) c.40-333A>T (n.40-333A>T) c.94A>T (p.Lys32Ter) | |
| 9 | g.124500605T>C | CA374888464 | NR5A1 | c.355A>G (p.Lys119Glu) c.40-333A>G (n.40-333A>G) c.94A>G (p.Lys32Glu) | gnomAD v4 |
| 9 | g.124500605T>G | CA374888465 | NR5A1 | c.355A>C (p.Lys119Gln) c.40-333A>C (n.40-333A>C) c.94A>C (p.Lys32Gln) | |
| 9 | g.124500606G>A | CA467208205 | NR5A1 | c.354C>T (p.Phe118=) c.40-334C>T (n.40-334C>T) c.93C>T (p.Phe31=) | |
| 9 | g.124500606G>C | CA374888468 | NR5A1 | c.354C>G (p.Phe118Leu) c.40-334C>G (n.40-334C>G) c.93C>G (p.Phe31Leu) | |
| 9 | g.124500606G>T | CA374888470 | NR5A1 | c.354C>A (p.Phe118Leu) c.40-334C>A (n.40-334C>A) c.93C>A (p.Phe31Leu) | |
| 9 | g.124500607A>C | CA374888473 | NR5A1 | c.353T>G (p.Phe118Cys) c.40-335T>G (n.40-335T>G) c.92T>G (p.Phe31Cys) | |
| 9 | g.124500607A>G | CA374888476 | NR5A1 | c.353T>C (p.Phe118Ser) c.40-335T>C (n.40-335T>C) c.92T>C (p.Phe31Ser) | |
| 9 | g.124500607A>T | CA374888477 | NR5A1 | c.353T>A (p.Phe118Tyr) c.40-335T>A (n.40-335T>A) c.92T>A (p.Phe31Tyr) | |
| 9 | g.124500608A>C | CA374888483 | NR5A1 | c.352T>G (p.Phe118Val) c.40-336T>G (n.40-336T>G) c.91T>G (p.Phe31Val) | gnomAD v4 |
| 9 | g.124500608A>G | CA374888485 | NR5A1 | c.352T>C (p.Phe118Leu) c.40-336T>C (n.40-336T>C) c.91T>C (p.Phe31Leu) | |
| 9 | g.124500608A>T | CA374888493 | NR5A1 | c.352T>A (p.Phe118Ile) c.40-336T>A (n.40-336T>A) c.91T>A (p.Phe31Ile) | ClinVar |
| 9 | g.124500609G>A | CA467208206 | NR5A1 | c.351C>T (p.Gly117=) c.40-337C>T (n.40-337C>T) c.90C>T (p.Gly30=) | COSMIC |
| 9 | g.124500609G>C | CA467208208 | NR5A1 | c.351C>G (p.Gly117=) c.40-337C>G (n.40-337C>G) c.90C>G (p.Gly30=) | |
| 9 | g.124500609G= | CA1878469532 | NR5A1 | c.351C= (p.Gly117=) c.40-337C= (n.40-337C=) c.90C= (p.Gly30=) | |
| 9 | g.124500609G>T | CA467208209 | NR5A1 | c.351C>A (p.Gly117=) c.40-337C>A (n.40-337C>A) c.90C>A (p.Gly30=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500610C>A | CA374888496 | NR5A1 | c.350G>T (p.Gly117Val) c.40-338G>T (n.40-338G>T) c.89G>T (p.Gly30Val) | |
| 9 | g.124500610C>G | CA374888498 | NR5A1 | c.350G>C (p.Gly117Ala) c.40-338G>C (n.40-338G>C) c.89G>C (p.Gly30Ala) | |
| 9 | g.124500610C>T | CA374888503 | NR5A1 | c.350G>A (p.Gly117Asp) c.40-338G>A (n.40-338G>A) c.89G>A (p.Gly30Asp) | |
| 9 | g.124500611C>A | CA374888507 | NR5A1 | c.349G>T (p.Gly117Cys) c.39+337G>T (n.39+337G>T) c.88G>T (p.Gly30Cys) | |
| 9 | g.124500611C>G | CA374888508 | NR5A1 | c.349G>C (p.Gly117Arg) c.39+337G>C (n.39+337G>C) c.88G>C (p.Gly30Arg) | |
| 9 | g.124500611C>T | CA374888512 | NR5A1 | c.349G>A (p.Gly117Ser) c.39+337G>A (n.39+337G>A) c.88G>A (p.Gly30Ser) | gnomAD v4 |
| 9 | g.124500612A>C | CA374888515 | NR5A1 | c.348T>G (p.Asn116Lys) c.39+336T>G (n.39+336T>G) c.87T>G (p.Asn29Lys) | |
| 9 | g.124500612A>G | CA467208211 | NR5A1 | c.348T>C (p.Asn116=) c.39+336T>C (n.39+336T>C) c.87T>C (p.Asn29=) | |
| 9 | g.124500612A>T | CA374888517 | NR5A1 | c.348T>A (p.Asn116Lys) c.39+336T>A (n.39+336T>A) c.87T>A (p.Asn29Lys) | |
| 9 | g.124500613T>A | CA374888520 | NR5A1 | c.347A>T (p.Asn116Ile) c.39+335A>T (n.39+335A>T) c.86A>T (p.Asn29Ile) | |
| 9 | g.124500613T>C | CA374888526 | NR5A1 | c.347A>G (p.Asn116Ser) c.39+335A>G (n.39+335A>G) c.86A>G (p.Asn29Ser) | dbSNP gnomAD v4 |
| 9 | g.124500613T>G | CA374888523 | NR5A1 | c.347A>C (p.Asn116Thr) c.39+335A>C (n.39+335A>C) c.86A>C (p.Asn29Thr) | |
| 9 | g.124500613T= | CA1878469534 | NR5A1 | c.347A= (p.Asn116=) c.39+335A= (n.39+335A=) c.86A= (p.Asn29=) | |
| 9 | g.124500614T>A | CA374888533 | NR5A1 | c.346A>T (p.Asn116Tyr) c.39+334A>T (n.39+334A>T) c.85A>T (p.Asn29Tyr) | |
| 9 | g.124500614T>C | CA374888539 | NR5A1 | c.346A>G (p.Asn116Asp) c.39+334A>G (n.39+334A>G) c.85A>G (p.Asn29Asp) | |
| 9 | g.124500614T>G | CA374888535 | NR5A1 | c.346A>C (p.Asn116His) c.39+334A>C (n.39+334A>C) c.85A>C (p.Asn29His) | |
| 9 | g.124500615G>A | CA467208213 | NR5A1 | c.345C>T (p.Ala115=) c.39+333C>T (n.39+333C>T) c.84C>T (p.Ala28=) | |
| 9 | g.124500615G>C | CA467208214 | NR5A1 | c.345C>G (p.Ala115=) c.39+333C>G (n.39+333C>G) c.84C>G (p.Ala28=) | gnomAD v4 |
| 9 | g.124500615G>T | CA467208215 | NR5A1 | c.345C>A (p.Ala115=) c.39+333C>A (n.39+333C>A) c.84C>A (p.Ala28=) | |
| 9 | g.124500616G>A | CA374888542 | NR5A1 | c.344C>T (p.Ala115Val) c.39+332C>T (n.39+332C>T) c.83C>T (p.Ala28Val) | |
| 9 | g.124500616G>C | CA374888544 | NR5A1 | c.344C>G (p.Ala115Gly) c.39+332C>G (n.39+332C>G) c.83C>G (p.Ala28Gly) | |
| 9 | g.124500616G>T | CA374888546 | NR5A1 | c.344C>A (p.Ala115Asp) c.39+332C>A (n.39+332C>A) c.83C>A (p.Ala28Asp) | |
| 9 | g.124500617C>A | CA374888548 | NR5A1 | c.343G>T (p.Ala115Ser) c.39+331G>T (n.39+331G>T) c.82G>T (p.Ala28Ser) | |
| 9 | g.124500617C>G | CA374888550 | NR5A1 | c.343G>C (p.Ala115Pro) c.39+331G>C (n.39+331G>C) c.82G>C (p.Ala28Pro) | |
| 9 | g.124500617C>T | CA374888553 | NR5A1 | c.343G>A (p.Ala115Thr) c.39+331G>A (n.39+331G>A) c.82G>A (p.Ala28Thr) | ClinVar |
| 9 | g.124500618C>A | CA467208216 | NR5A1 | c.342G>T (p.Arg114=) c.39+330G>T (n.39+330G>T) c.81G>T (p.Arg27=) | |
| 9 | g.124500618C>G | CA467208218 | NR5A1 | c.342G>C (p.Arg114=) c.39+330G>C (n.39+330G>C) c.81G>C (p.Arg27=) | |
| 9 | g.124500618C>T | CA467208220 | NR5A1 | c.342G>A (p.Arg114=) c.39+330G>A (n.39+330G>A) c.81G>A (p.Arg27=) | |
| 9 | g.124500619C>A | CA374888555 | NR5A1 | c.341G>T (p.Arg114Leu) c.39+329G>T (n.39+329G>T) c.80G>T (p.Arg27Leu) | |
| 9 | g.124500619C= | CA1878469538 | NR5A1 | c.341G= (p.Arg114=) c.39+329G= (n.39+329G=) c.80G= (p.Arg27=) | |
| 9 | g.124500619C>G | CA374888558 | NR5A1 | c.341G>C (p.Arg114Pro) c.39+329G>C (n.39+329G>C) c.80G>C (p.Arg27Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500619C>T | CA5235500 | NR5A1 | c.341G>A (p.Arg114Gln) c.39+329G>A (n.39+329G>A) c.80G>A (p.Arg27Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500620G>A | CA5235501 | NR5A1 | c.340C>T (p.Arg114Trp) c.39+328C>T (n.39+328C>T) c.79C>T (p.Arg27Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500620G>C | CA374888565 | NR5A1 | c.340C>G (p.Arg114Gly) c.39+328C>G (n.39+328C>G) c.79C>G (p.Arg27Gly) | dbSNP |
| 9 | g.124500620G= | CA1878469542 | NR5A1 | c.340C= (p.Arg114=) c.39+328C= (n.39+328C=) c.79C= (p.Arg27=) | |
| 9 | g.124500620G>T | CA467208222 | NR5A1 | c.340C>A (p.Arg114=) c.39+328C>A (n.39+328C>A) c.79C>A (p.Arg27=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500621A= | CA1878469545 | NR5A1 | c.339T= (p.Ile113=) c.39+327T= (n.39+327T=) c.78T= (p.Ile26=) | |
| 9 | g.124500621A>C | CA374888568 | NR5A1 | c.339T>G (p.Ile113Met) c.39+327T>G (n.39+327T>G) c.78T>G (p.Ile26Met) | |
| 9 | g.124500621A>G | CA467208223 | NR5A1 | c.339T>C (p.Ile113=) c.39+327T>C (n.39+327T>C) c.78T>C (p.Ile26=) | |
| 9 | g.124500621A>T | CA467208224 | NR5A1 | c.339T>A (p.Ile113=) c.39+327T>A (n.39+327T>A) c.78T>A (p.Ile26=) | ClinVar dbSNP |
| 9 | g.124500622del | CA2695211098 | NR5A1 | c.339del (p.Arg114GlyfsTer?) c.39+327del (n.39+327del) c.78del (p.Arg27GlyfsTer?) | |
| 9 | g.124500622A>C | CA374888572 | NR5A1 | c.338T>G (p.Ile113Ser) c.39+326T>G (n.39+326T>G) c.77T>G (p.Ile26Ser) | |
| 9 | g.124500622A>G | CA374888574 | NR5A1 | c.338T>C (p.Ile113Thr) c.39+326T>C (n.39+326T>C) c.77T>C (p.Ile26Thr) | |
| 9 | g.124500622A>T | CA374888576 | NR5A1 | c.338T>A (p.Ile113Asn) c.39+326T>A (n.39+326T>A) c.77T>A (p.Ile26Asn) | |
| 9 | g.124500623T>A | CA374888581 | NR5A1 | c.337A>T (p.Ile113Phe) c.39+325A>T (n.39+325A>T) c.76A>T (p.Ile26Phe) | |
| 9 | g.124500623T>C | CA374888583 | NR5A1 | c.337A>G (p.Ile113Val) c.39+325A>G (n.39+325A>G) c.76A>G (p.Ile26Val) | |
| 9 | g.124500623T>G | CA374888586 | NR5A1 | c.337A>C (p.Ile113Leu) c.39+325A>C (n.39+325A>C) c.76A>C (p.Ile26Leu) | |
| 9 | g.124500624C>A | CA374888588 | NR5A1 | c.336G>T (p.Gln112His) c.39+324G>T (n.39+324G>T) c.75G>T (p.Gln25His) | dbSNP gnomAD v4 |
| 9 | g.124500624C= | CA1878469550 | NR5A1 | c.336G= (p.Gln112=) c.39+324G= (n.39+324G=) c.75G= (p.Gln25=) | |
| 9 | g.124500624C>G | CA374888591 | NR5A1 | c.336G>C (p.Gln112His) c.39+324G>C (n.39+324G>C) c.75G>C (p.Gln25His) | |
| 9 | g.124500624C>T | CA467208226 | NR5A1 | c.336G>A (p.Gln112=) c.39+324G>A (n.39+324G>A) c.75G>A (p.Gln25=) | gnomAD v3 gnomAD v4 |
| 9 | g.124500625T>A | CA374888595 | NR5A1 | c.335A>T (p.Gln112Leu) c.39+323A>T (n.39+323A>T) c.74A>T (p.Gln25Leu) | |
| 9 | g.124500625T>C | CA374888597 | NR5A1 | c.335A>G (p.Gln112Arg) c.39+323A>G (n.39+323A>G) c.74A>G (p.Gln25Arg) | |
| 9 | g.124500625T>G | CA374888600 | NR5A1 | c.335A>C (p.Gln112Pro) c.39+323A>C (n.39+323A>C) c.74A>C (p.Gln25Pro) | |
| 9 | g.124500626G>A | CA374888606 | NR5A1 | c.334C>T (p.Gln112Ter) c.39+322C>T (n.39+322C>T) c.73C>T (p.Gln25Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.124500626G>C | CA374888607 | NR5A1 | c.334C>G (p.Gln112Glu) c.39+322C>G (n.39+322C>G) c.73C>G (p.Gln25Glu) | |
| 9 | g.124500626G= | CA1878469554 | NR5A1 | c.334C= (p.Gln112=) c.39+322C= (n.39+322C=) c.73C= (p.Gln25=) | |
| 9 | g.124500626G>T | CA374888604 | NR5A1 | c.334C>A (p.Gln112Lys) c.39+322C>A (n.39+322C>A) c.73C>A (p.Gln25Lys) | |
| 9 | g.124500627T>A | CA467208228 | NR5A1 | c.333A>T (p.Ala111=) c.39+321A>T (n.39+321A>T) c.72A>T (p.Ala24=) | |
| 9 | g.124500627T>C | CA467208230 | NR5A1 | c.333A>G (p.Ala111=) c.39+321A>G (n.39+321A>G) c.72A>G (p.Ala24=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500627T>G | CA467208231 | NR5A1 | c.333A>C (p.Ala111=) c.39+321A>C (n.39+321A>C) c.72A>C (p.Ala24=) | |
| 9 | g.124500627T= | CA1878469558 | NR5A1 | c.333A= (p.Ala111=) c.39+321A= (n.39+321A=) c.72A= (p.Ala24=) | |
| 9 | g.124500628G>A | CA374888608 | NR5A1 | c.332C>T (p.Ala111Val) c.39+320C>T (n.39+320C>T) c.71C>T (p.Ala24Val) | |
| 9 | g.124500628G>C | CA374888609 | NR5A1 | c.332C>G (p.Ala111Gly) c.39+320C>G (n.39+320C>G) c.71C>G (p.Ala24Gly) | |
| 9 | g.124500628G>T | CA374888610 | NR5A1 | c.332C>A (p.Ala111Glu) c.39+320C>A (n.39+320C>A) c.71C>A (p.Ala24Glu) | |
| 9 | g.124500629C>A | CA374888613 | NR5A1 | c.331G>T (p.Ala111Ser) c.39+319G>T (n.39+319G>T) c.70G>T (p.Ala24Ser) | |
| 9 | g.124500629C>G | CA374888615 | NR5A1 | c.331G>C (p.Ala111Pro) c.39+319G>C (n.39+319G>C) c.70G>C (p.Ala24Pro) | |
| 9 | g.124500629C>T | CA374888617 | NR5A1 | c.331G>A (p.Ala111Thr) c.39+319G>A (n.39+319G>A) c.70G>A (p.Ala24Thr) | |
| 9 | g.124500629_124500632delinsCCTT | CA1878469561 | NR5A1 | c.328_331delinsAAGG (p.Lys110=) c.39+316_39+319delinsAAGG (n.39+316_39+319delinsAAGG) c.67_70delinsAAGG (p.Lys23=) | |
| 9 | g.124500630C>A | CA374888620 | NR5A1 | c.330G>T (p.Lys110Asn) c.39+318G>T (n.39+318G>T) c.69G>T (p.Lys23Asn) | |
| 9 | g.124500630C>G | CA374888622 | NR5A1 | c.330G>C (p.Lys110Asn) c.39+318G>C (n.39+318G>C) c.69G>C (p.Lys23Asn) | |
| 9 | g.124500630C>T | CA467208233 | NR5A1 | c.330G>A (p.Lys110=) c.39+318G>A (n.39+318G>A) c.69G>A (p.Lys23=) | gnomAD v4 |
| 9 | g.124500635_124500637del | CA5235502 | NR5A1 | c.328_330del (p.Lys110del) c.39+316_39+318del (n.39+316_39+318del) c.67_69del (p.Lys23del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500631T>A | CA374888627 | NR5A1 | c.329A>T (p.Lys110Met) c.39+317A>T (n.39+317A>T) c.68A>T (p.Lys23Met) | |
| 9 | g.124500631T>C | CA374888629 | NR5A1 | c.329A>G (p.Lys110Arg) c.39+317A>G (n.39+317A>G) c.68A>G (p.Lys23Arg) | |
| 9 | g.124500631T>G | CA374888631 | NR5A1 | c.329A>C (p.Lys110Thr) c.39+317A>C (n.39+317A>C) c.68A>C (p.Lys23Thr) | |
| 9 | g.124500632T>A | CA374888640 | NR5A1 | c.328A>T (p.Lys110Ter) c.39+316A>T (n.39+316A>T) c.67A>T (p.Lys23Ter) | |
| 9 | g.124500632T>C | CA374888635 | NR5A1 | c.328A>G (p.Lys110Glu) c.39+316A>G (n.39+316A>G) c.67A>G (p.Lys23Glu) | |
| 9 | g.124500632T>G | CA374888636 | NR5A1 | c.328A>C (p.Lys110Gln) c.39+316A>C (n.39+316A>C) c.67A>C (p.Lys23Gln) | |
| 9 | g.124500633C>A | CA374888644 | NR5A1 | c.327G>T (p.Lys109Asn) c.39+315G>T (n.39+315G>T) c.66G>T (p.Lys22Asn) | |
| 9 | g.124500633C>G | CA374888646 | NR5A1 | c.327G>C (p.Lys109Asn) c.39+315G>C (n.39+315G>C) c.66G>C (p.Lys22Asn) | |
| 9 | g.124500633C>T | CA467208235 | NR5A1 | c.327G>A (p.Lys109=) c.39+315G>A (n.39+315G>A) c.66G>A (p.Lys22=) | gnomAD v4 |
| 9 | g.124500634T>A | CA374888649 | NR5A1 | c.326A>T (p.Lys109Met) c.39+314A>T (n.39+314A>T) c.65A>T (p.Lys22Met) | |
| 9 | g.124500634T>C | CA374888650 | NR5A1 | c.326A>G (p.Lys109Arg) c.39+314A>G (n.39+314A>G) c.65A>G (p.Lys22Arg) | gnomAD v4 |
| 9 | g.124500634T>G | CA374888653 | NR5A1 | c.326A>C (p.Lys109Thr) c.39+314A>C (n.39+314A>C) c.65A>C (p.Lys22Thr) | |
| 9 | g.124500635T>A | CA374888657 | NR5A1 | c.325A>T (p.Lys109Ter) c.39+313A>T (n.39+313A>T) c.64A>T (p.Lys22Ter) | |
| 9 | g.124500635T>C | CA374888660 | NR5A1 | c.325A>G (p.Lys109Glu) c.39+313A>G (n.39+313A>G) c.64A>G (p.Lys22Glu) | |
| 9 | g.124500635T>G | CA374888661 | NR5A1 | c.325A>C (p.Lys109Gln) c.39+313A>C (n.39+313A>C) c.64A>C (p.Lys22Gln) | |
| 9 | g.124500636C>A | CA374888665 | NR5A1 | c.324G>T (p.Gln108His) c.39+312G>T (n.39+312G>T) c.63G>T (p.Gln21His) | |
| 9 | g.124500636C>G | CA374888667 | NR5A1 | c.324G>C (p.Gln108His) c.39+312G>C (n.39+312G>C) c.63G>C (p.Gln21His) | |
| 9 | g.124500636C>T | CA467208237 | NR5A1 | c.324G>A (p.Gln108=) c.39+312G>A (n.39+312G>A) c.63G>A (p.Gln21=) | |
| 9 | g.124500637T>A | CA374888670 | NR5A1 | c.323A>T (p.Gln108Leu) c.39+311A>T (n.39+311A>T) c.62A>T (p.Gln21Leu) | |
| 9 | g.124500637T>C | CA374888673 | NR5A1 | c.323A>G (p.Gln108Arg) c.39+311A>G (n.39+311A>G) c.62A>G (p.Gln21Arg) | |
| 9 | g.124500637T>G | CA374888675 | NR5A1 | c.323A>C (p.Gln108Pro) c.39+311A>C (n.39+311A>C) c.62A>C (p.Gln21Pro) | |
| 9 | g.124500638G>A | CA374888682 | NR5A1 | c.322C>T (p.Gln108Ter) c.39+310C>T (n.39+310C>T) c.61C>T (p.Gln21Ter) | |
| 9 | g.124500638G>C | CA374888685 | NR5A1 | c.322C>G (p.Gln108Glu) c.39+310C>G (n.39+310C>G) c.61C>G (p.Gln21Glu) | |
| 9 | g.124500638G>T | CA374888680 | NR5A1 | c.322C>A (p.Gln108Lys) c.39+310C>A (n.39+310C>A) c.61C>A (p.Gln21Lys) | |
| 9 | g.124500639C>A | CA374888688 | NR5A1 | c.321G>T (p.Gln107His) c.39+309G>T (n.39+309G>T) c.60G>T (p.Gln20His) | |
| 9 | g.124500639C>G | CA374888691 | NR5A1 | c.321G>C (p.Gln107His) c.39+309G>C (n.39+309G>C) c.60G>C (p.Gln20His) | |
| 9 | g.124500639C>T | CA467208238 | NR5A1 | c.321G>A (p.Gln107=) c.39+309G>A (n.39+309G>A) c.60G>A (p.Gln20=) | |
| 9 | g.124500640T>A | CA374888695 | NR5A1 | c.320A>T (p.Gln107Leu) c.39+308A>T (n.39+308A>T) c.59A>T (p.Gln20Leu) | |
| 9 | g.124500640T>C | CA374888698 | NR5A1 | c.320A>G (p.Gln107Arg) c.39+308A>G (n.39+308A>G) c.59A>G (p.Gln20Arg) | |
| 9 | g.124500640T>G | CA374888700 | NR5A1 | c.320A>C (p.Gln107Pro) c.39+308A>C (n.39+308A>C) c.59A>C (p.Gln20Pro) | |
| 9 | g.124500641G>A | CA374888703 | NR5A1 | c.319C>T (p.Gln107Ter) c.39+307C>T (n.39+307C>T) c.58C>T (p.Gln20Ter) | |
| 9 | g.124500641G>C | CA374888707 | NR5A1 | c.319C>G (p.Gln107Glu) c.39+307C>G (n.39+307C>G) c.58C>G (p.Gln20Glu) | |
| 9 | g.124500641G>T | CA374888709 | NR5A1 | c.319C>A (p.Gln107Lys) c.39+307C>A (n.39+307C>A) c.58C>A (p.Gln20Lys) | |
| 9 | g.124500642T>A | CA374888712 | NR5A1 | c.318A>T (p.Lys106Asn) c.39+306A>T (n.39+306A>T) c.57A>T (p.Lys19Asn) | |
| 9 | g.124500642T>C | CA467208241 | NR5A1 | c.318A>G (p.Lys106=) c.39+306A>G (n.39+306A>G) c.57A>G (p.Lys19=) | |
| 9 | g.124500642T>G | CA374888713 | NR5A1 | c.318A>C (p.Lys106Asn) c.39+306A>C (n.39+306A>C) c.57A>C (p.Lys19Asn) | |
| 9 | g.124500643T>A | CA374888715 | NR5A1 | c.317A>T (p.Lys106Ile) c.39+305A>T (n.39+305A>T) c.56A>T (p.Lys19Ile) | |
| 9 | g.124500643T>C | CA374888718 | NR5A1 | c.317A>G (p.Lys106Arg) c.39+305A>G (n.39+305A>G) c.56A>G (p.Lys19Arg) | |
| 9 | g.124500643T>G | CA374888719 | NR5A1 | c.317A>C (p.Lys106Thr) c.39+305A>C (n.39+305A>C) c.56A>C (p.Lys19Thr) | |
| 9 | g.124500643_124500648delinsGCCTTCTTCT | CA2695211099 | NR5A1 | c.312_317delinsAGAAGAAGGC (p.Leu105GlufsTer?) c.39+300_39+305delinsAGAAGAAGGC (n.39+300_39+305delinsAGAAGAAGGC) c.51_56delinsAGAAGAAGGC (p.Leu18GlufsTer?) | |
| 9 | g.124500644T>A | CA374888727 | NR5A1 | c.316A>T (p.Lys106Ter) c.39+304A>T (n.39+304A>T) c.55A>T (p.Lys19Ter) | |
| 9 | g.124500644T>C | CA374888724 | NR5A1 | c.316A>G (p.Lys106Glu) c.39+304A>G (n.39+304A>G) c.55A>G (p.Lys19Glu) | |
| 9 | g.124500644T>G | CA374888722 | NR5A1 | c.316A>C (p.Lys106Gln) c.39+304A>C (n.39+304A>C) c.55A>C (p.Lys19Gln) | gnomAD v4 |
| 9 | g.124500645C>A | CA467208243 | NR5A1 | c.315G>T (p.Leu105=) c.39+303G>T (n.39+303G>T) c.54G>T (p.Leu18=) | |
| 9 | g.124500645C= | CA1878469565 | NR5A1 | c.315G= (p.Leu105=) c.39+303G= (n.39+303G=) c.54G= (p.Leu18=) | |
| 9 | g.124500645C>G | CA5235503 | NR5A1 | c.315G>C (p.Leu105=) c.39+303G>C (n.39+303G>C) c.54G>C (p.Leu18=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500645C>T | CA5235504 | NR5A1 | c.315G>A (p.Leu105=) c.39+303G>A (n.39+303G>A) c.54G>A (p.Leu18=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500646A>C | CA374888732 | NR5A1 | c.314T>G (p.Leu105Arg) c.39+302T>G (n.39+302T>G) c.53T>G (p.Leu18Arg) | |
| 9 | g.124500646A>G | CA374888734 | NR5A1 | c.314T>C (p.Leu105Pro) c.39+302T>C (n.39+302T>C) c.53T>C (p.Leu18Pro) | |
| 9 | g.124500646A>T | CA374888735 | NR5A1 | c.314T>A (p.Leu105Gln) c.39+302T>A (n.39+302T>A) c.53T>A (p.Leu18Gln) | |
| 9 | g.124500647G>A | CA467208246 | NR5A1 | c.313C>T (p.Leu105=) c.39+301C>T (n.39+301C>T) c.52C>T (p.Leu18=) | |
| 9 | g.124500647G>C | CA374888737 | NR5A1 | c.313C>G (p.Leu105Val) c.39+301C>G (n.39+301C>G) c.52C>G (p.Leu18Val) | |
| 9 | g.124500647G>T | CA374888739 | NR5A1 | c.313C>A (p.Leu105Met) c.39+301C>A (n.39+301C>A) c.52C>A (p.Leu18Met) | |
| 9 | g.124500648G>A | CA5235505 | NR5A1 | c.312C>T (p.Ala104=) c.39+300C>T (n.39+300C>T) c.51C>T (p.Ala17=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500648G>C | CA467208248 | NR5A1 | c.312C>G (p.Ala104=) c.39+300C>G (n.39+300C>G) c.51C>G (p.Ala17=) | |
| 9 | g.124500648G= | CA1878469567 | NR5A1 | c.312C= (p.Ala104=) c.39+300C= (n.39+300C=) c.51C= (p.Ala17=) | |
| 9 | g.124500648G>T | CA467208249 | NR5A1 | c.312C>A (p.Ala104=) c.39+300C>A (n.39+300C>A) c.51C>A (p.Ala17=) | |
| 9 | g.124500649G>A | CA374888745 | NR5A1 | c.311C>T (p.Ala104Val) c.39+299C>T (n.39+299C>T) c.50C>T (p.Ala17Val) | |
| 9 | g.124500649G>C | CA374888747 | NR5A1 | c.311C>G (p.Ala104Gly) c.39+299C>G (n.39+299C>G) c.50C>G (p.Ala17Gly) | |
| 9 | g.124500649G>T | CA374888749 | NR5A1 | c.311C>A (p.Ala104Asp) c.39+299C>A (n.39+299C>A) c.50C>A (p.Ala17Asp) | gnomAD v4 |
| 9 | g.124500650C>A | CA374888750 | NR5A1 | c.310G>T (p.Ala104Ser) c.39+298G>T (n.39+298G>T) c.49G>T (p.Ala17Ser) | |
| 9 | g.124500650C>G | CA374888752 | NR5A1 | c.310G>C (p.Ala104Pro) c.39+298G>C (n.39+298G>C) c.49G>C (p.Ala17Pro) | |
| 9 | g.124500650C>T | CA374888753 | NR5A1 | c.310G>A (p.Ala104Thr) c.39+298G>A (n.39+298G>A) c.49G>A (p.Ala17Thr) | gnomAD v4 |
| 9 | g.124500654_124500659del | CA2695211100 | NR5A1 | c.305_310del (p.Asp102_Arg103del) c.39+293_39+298del (n.39+293_39+298del) c.44_49del (p.Asp15_Arg16del) | |
| 9 | g.124500651C>A | CA467208251 | NR5A1 | c.309G>T (p.Arg103=) c.39+297G>T (n.39+297G>T) c.48G>T (p.Arg16=) | |
| 9 | g.124500651C>G | CA467208252 | NR5A1 | c.309G>C (p.Arg103=) c.39+297G>C (n.39+297G>C) c.48G>C (p.Arg16=) | |
| 9 | g.124500651C>T | CA467208253 | NR5A1 | c.309G>A (p.Arg103=) c.39+297G>A (n.39+297G>A) c.48G>A (p.Arg16=) | |
| 9 | g.124500652C>A | CA374888757 | NR5A1 | c.308G>T (p.Arg103Leu) c.39+296G>T (n.39+296G>T) c.47G>T (p.Arg16Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500652C= | CA1878469569 | NR5A1 | c.308G= (p.Arg103=) c.39+296G= (n.39+296G=) c.47G= (p.Arg16=) | |
| 9 | g.124500652C>G | CA374888759 | NR5A1 | c.308G>C (p.Arg103Pro) c.39+296G>C (n.39+296G>C) c.47G>C (p.Arg16Pro) | gnomAD v4 |
| 9 | g.124500652C>T | CA374888755 | NR5A1 | c.308G>A (p.Arg103Gln) c.39+296G>A (n.39+296G>A) c.47G>A (p.Arg16Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500653G>A | CA199729205 | NR5A1 | c.307C>T (p.Arg103Trp) c.39+295C>T (n.39+295C>T) c.46C>T (p.Arg16Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500653G>C | CA374888762 | NR5A1 | c.307C>G (p.Arg103Gly) c.39+295C>G (n.39+295C>G) c.46C>G (p.Arg16Gly) | |
| 9 | g.124500653G= | CA1878469573 | NR5A1 | c.307C= (p.Arg103=) c.39+295C= (n.39+295C=) c.46C= (p.Arg16=) | |
| 9 | g.124500653G>T | CA467208257 | NR5A1 | c.307C>A (p.Arg103=) c.39+295C>A (n.39+295C>A) c.46C>A (p.Arg16=) | |
| 9 | g.124500654G>A | CA199729207 | NR5A1 | c.306C>T (p.Asp102=) c.39+294C>T (n.39+294C>T) c.45C>T (p.Asp15=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500654G>C | CA374888763 | NR5A1 | c.306C>G (p.Asp102Glu) c.39+294C>G (n.39+294C>G) c.45C>G (p.Asp15Glu) | |
| 9 | g.124500654G= | CA1878469577 | NR5A1 | c.306C= (p.Asp102=) c.39+294C= (n.39+294C=) c.45C= (p.Asp15=) | |
| 9 | g.124500654G>T | CA374888764 | NR5A1 | c.306C>A (p.Asp102Glu) c.39+294C>A (n.39+294C>A) c.45C>A (p.Asp15Glu) | |
| 9 | g.124500655T>A | CA374888765 | NR5A1 | c.305A>T (p.Asp102Val) c.39+293A>T (n.39+293A>T) c.44A>T (p.Asp15Val) | |
| 9 | g.124500655T>C | CA374888766 | NR5A1 | c.305A>G (p.Asp102Gly) c.39+293A>G (n.39+293A>G) c.44A>G (p.Asp15Gly) | |
| 9 | g.124500655T>G | CA374888767 | NR5A1 | c.305A>C (p.Asp102Ala) c.39+293A>C (n.39+293A>C) c.44A>C (p.Asp15Ala) | dbSNP |
| 9 | g.124500656C>A | CA374888769 | NR5A1 | c.304G>T (p.Asp102Tyr) c.39+292G>T (n.39+292G>T) c.43G>T (p.Asp15Tyr) | |
| 9 | g.124500656C>G | CA374888771 | NR5A1 | c.304G>C (p.Asp102His) c.39+292G>C (n.39+292G>C) c.43G>C (p.Asp15His) | |
| 9 | g.124500656C>T | CA374888772 | NR5A1 | c.304G>A (p.Asp102Asn) c.39+292G>A (n.39+292G>A) c.43G>A (p.Asp15Asn) | |
| 9 | g.124500658del | CA2739291256 | NR5A1 | c.304del (p.Asp102ThrfsTer4) c.39+292del (n.39+292del) c.43del (p.Asp15ThrfsTer4) | |
| 9 | g.124500658_124500674del | CA2695211101 | NR5A1 | c.288_304del (p.Met98GlyfsTer?) c.39+276_39+292del (n.39+276_39+292del) c.27_43del (p.Met11GlyfsTer?) | |
| 9 | g.124500657C>A | CA467208261 | NR5A1 | c.303G>T (p.Arg101=) c.39+291G>T (n.39+291G>T) c.42G>T (p.Arg14=) | |
| 9 | g.124500657C>G | CA467208262 | NR5A1 | c.303G>C (p.Arg101=) c.39+291G>C (n.39+291G>C) c.42G>C (p.Arg14=) | |
| 9 | g.124500657C>T | CA467208263 | NR5A1 | c.303G>A (p.Arg101=) c.39+291G>A (n.39+291G>A) c.42G>A (p.Arg14=) | |
| 9 | g.124500658C>A | CA374888775 | NR5A1 | c.302G>T (p.Arg101Leu) c.39+290G>T (n.39+290G>T) c.41G>T (p.Arg14Leu) | |
| 9 | g.124500658C= | CA1878469582 | NR5A1 | c.302G= (p.Arg101=) c.39+290G= (n.39+290G=) c.41G= (p.Arg14=) | |
| 9 | g.124500658C>G | CA374888782 | NR5A1 | c.302G>C (p.Arg101Pro) c.39+290G>C (n.39+290G>C) c.41G>C (p.Arg14Pro) | |
| 9 | g.124500658C>T | CA5235506 | NR5A1 | c.302G>A (p.Arg101Gln) c.39+290G>A (n.39+290G>A) c.41G>A (p.Arg14Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500659G>A | CA374888800 | NR5A1 | c.301C>T (p.Arg101Trp) c.39+289C>T (n.39+289C>T) c.40C>T (p.Arg14Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500659G>C | CA374888799 | NR5A1 | c.301C>G (p.Arg101Gly) c.39+289C>G (n.39+289C>G) c.40C>G (p.Arg14Gly) | |
| 9 | g.124500659G= | CA1878469585 | NR5A1 | c.301C= (p.Arg101=) c.39+289C= (n.39+289C=) c.40C= (p.Arg14=) | |
| 9 | g.124500659G>T | CA467208264 | NR5A1 | c.301C>A (p.Arg101=) c.39+289C>A (n.39+289C>A) c.40C>A (p.Arg14=) | |
| 9 | g.124500660C>A | CA374888801 | NR5A1 | c.300G>T (p.Lys100Asn) c.39+288G>T (n.39+288G>T) c.39G>T (p.Lys13Asn) | |
| 9 | g.124500660C>G | CA374888803 | NR5A1 | c.300G>C (p.Lys100Asn) c.39+288G>C (n.39+288G>C) c.39G>C (p.Lys13Asn) | |
| 9 | g.124500660C>T | CA467208265 | NR5A1 | c.300G>A (p.Lys100=) c.39+288G>A (n.39+288G>A) c.39G>A (p.Lys13=) | |
| 9 | g.124500661T>A | CA374888808 | NR5A1 | c.299A>T (p.Lys100Met) c.39+287A>T (n.39+287A>T) c.38A>T (p.Lys13Met) | |
| 9 | g.124500661T>C | CA374888810 | NR5A1 | c.299A>G (p.Lys100Arg) c.39+287A>G (n.39+287A>G) c.38A>G (p.Lys13Arg) | |
| 9 | g.124500661T>G | CA374888812 | NR5A1 | c.299A>C (p.Lys100Thr) c.39+287A>C (n.39+287A>C) c.38A>C (p.Lys13Thr) | |
| 9 | g.124500662T>A | CA374888813 | NR5A1 | c.298A>T (p.Lys100Ter) c.39+286A>T (n.39+286A>T) c.37A>T (p.Lys13Ter) | |
| 9 | g.124500662T>C | CA374888814 | NR5A1 | c.298A>G (p.Lys100Glu) c.39+286A>G (n.39+286A>G) c.37A>G (p.Lys13Glu) | |
| 9 | g.124500662T>G | CA374888815 | NR5A1 | c.298A>C (p.Lys100Gln) c.39+286A>C (n.39+286A>C) c.37A>C (p.Lys13Gln) | |
| 9 | g.124500663G>A | CA467208269 | NR5A1 | c.297C>T (p.Tyr99=) c.39+285C>T (n.39+285C>T) c.36C>T (p.Tyr12=) | |
| 9 | g.124500663G>C | CA374888817 | NR5A1 | c.297C>G (p.Tyr99Ter) c.39+285C>G (n.39+285C>G) c.36C>G (p.Tyr12Ter) | |
| 9 | g.124500663G>T | CA374888818 | NR5A1 | c.297C>A (p.Tyr99Ter) c.39+285C>A (n.39+285C>A) c.36C>A (p.Tyr12Ter) | |
| 9 | g.124500664T>A | CA374888819 | NR5A1 | c.296A>T (p.Tyr99Phe) c.39+284A>T (n.39+284A>T) c.35A>T (p.Tyr12Phe) | |
| 9 | g.124500664T>C | CA374888821 | NR5A1 | c.296A>G (p.Tyr99Cys) c.39+284A>G (n.39+284A>G) c.35A>G (p.Tyr12Cys) | |
| 9 | g.124500664T>G | CA374888822 | NR5A1 | c.296A>C (p.Tyr99Ser) c.39+284A>C (n.39+284A>C) c.35A>C (p.Tyr12Ser) | |
| 9 | g.124500665A>C | CA374888823 | NR5A1 | c.295T>G (p.Tyr99Asp) c.39+283T>G (n.39+283T>G) c.34T>G (p.Tyr12Asp) | |
| 9 | g.124500665A>G | CA374888826 | NR5A1 | c.295T>C (p.Tyr99His) c.39+283T>C (n.39+283T>C) c.34T>C (p.Tyr12His) | |
| 9 | g.124500665A>T | CA374888825 | NR5A1 | c.295T>A (p.Tyr99Asn) c.39+283T>A (n.39+283T>A) c.34T>A (p.Tyr12Asn) | |
| 9 | g.124500666C>A | CA374888829 | NR5A1 | c.294G>T (p.Met98Ile) c.39+282G>T (n.39+282G>T) c.33G>T (p.Met11Ile) | |
| 9 | g.124500666C>G | CA374888833 | NR5A1 | c.294G>C (p.Met98Ile) c.39+282G>C (n.39+282G>C) c.33G>C (p.Met11Ile) | |
| 9 | g.124500666C>T | CA374888831 | NR5A1 | c.294G>A (p.Met98Ile) c.39+282G>A (n.39+282G>A) c.33G>A (p.Met11Ile) | |
| 9 | g.124500667A= | CA1878469591 | NR5A1 | c.293T= (p.Met98=) c.39+281T= (n.39+281T=) c.32T= (p.Met11=) | |
| 9 | g.124500667A>C | CA374888836 | NR5A1 | c.293T>G (p.Met98Arg) c.39+281T>G (n.39+281T>G) c.32T>G (p.Met11Arg) | |
| 9 | g.124500667A>G | CA5235507 | NR5A1 | c.293T>C (p.Met98Thr) c.39+281T>C (n.39+281T>C) c.32T>C (p.Met11Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.124500667A>T | CA374888837 | NR5A1 | c.293T>A (p.Met98Lys) c.39+281T>A (n.39+281T>A) c.32T>A (p.Met11Lys) | |
| 9 | g.124500668T>A | CA374888842 | NR5A1 | c.292A>T (p.Met98Leu) c.39+280A>T (n.39+280A>T) c.31A>T (p.Met11Leu) | |
| 9 | g.124500668T>C | CA374888846 | NR5A1 | c.292A>G (p.Met98Val) c.39+280A>G (n.39+280A>G) c.31A>G (p.Met11Val) | |
| 9 | g.124500668T>G | CA374888844 | NR5A1 | c.292A>C (p.Met98Leu) c.39+280A>C (n.39+280A>C) c.31A>C (p.Met11Leu) | |
| 9 | g.124500669C>A | CA467208274 | NR5A1 | c.291G>T (p.Pro97=) c.39+279G>T (n.39+279G>T) c.30G>T (p.Pro10=) | dbSNP |
| 9 | g.124500669C= | CA1878469597 | NR5A1 | c.291G= (p.Pro97=) c.39+279G= (n.39+279G=) c.30G= (p.Pro10=) | |
| 9 | g.124500669C>G | CA199729218 | NR5A1 | c.291G>C (p.Pro97=) c.39+279G>C (n.39+279G>C) c.30G>C (p.Pro10=) | dbSNP |
| 9 | g.124500669C>T | CA5235508 | NR5A1 | c.291G>A (p.Pro97=) c.39+279G>A (n.39+279G>A) c.30G>A (p.Pro10=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.124500670G>A | CA374888855 | NR5A1 | c.290C>T (p.Pro97Leu) c.39+278C>T (n.39+278C>T) c.29C>T (p.Pro10Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500670G>C | CA374888851 | NR5A1 | c.290C>G (p.Pro97Arg) c.39+278C>G (n.39+278C>G) c.29C>G (p.Pro10Arg) | |
| 9 | g.124500670G= | CA1878469600 | NR5A1 | c.290C= (p.Pro97=) c.39+278C= (n.39+278C=) c.29C= (p.Pro10=) | |
| 9 | g.124500670G>T | CA374888853 | NR5A1 | c.290C>A (p.Pro97Gln) c.39+278C>A (n.39+278C>A) c.29C>A (p.Pro10Gln) | |
| 9 | g.124500671G>A | CA374888858 | NR5A1 | c.289C>T (p.Pro97Ser) c.39+277C>T (n.39+277C>T) c.28C>T (p.Pro10Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500671G>C | CA374888859 | NR5A1 | c.289C>G (p.Pro97Ala) c.39+277C>G (n.39+277C>G) c.28C>G (p.Pro10Ala) | |
| 9 | g.124500671G= | CA1878469603 | NR5A1 | c.289C= (p.Pro97=) c.39+277C= (n.39+277C=) c.28C= (p.Pro10=) | |
| 9 | g.124500671G>T | CA374888860 | NR5A1 | c.289C>A (p.Pro97Thr) c.39+277C>A (n.39+277C>A) c.28C>A (p.Pro10Thr) | |
| 9 | g.124500672C>A | CA467208277 | NR5A1 | c.288G>T (p.Gly96=) c.39+276G>T (n.39+276G>T) c.27G>T (p.Gly9=) | |
| 9 | g.124500672C= | CA1878469606 | NR5A1 | c.288G= (p.Gly96=) c.39+276G= (n.39+276G=) c.27G= (p.Gly9=) | |
| 9 | g.124500672C>G | CA467208278 | NR5A1 | c.288G>C (p.Gly96=) c.39+276G>C (n.39+276G>C) c.27G>C (p.Gly9=) | |
| 9 | g.124500672C>T | CA467208279 | NR5A1 | c.288G>A (p.Gly96=) c.39+276G>A (n.39+276G>A) c.27G>A (p.Gly9=) | dbSNP |
| 9 | g.124500673C>A | CA374888861 | NR5A1 | c.287G>T (p.Gly96Val) c.39+275G>T (n.39+275G>T) c.26G>T (p.Gly9Val) | |
| 9 | g.124500673C>G | CA374888863 | NR5A1 | c.287G>C (p.Gly96Ala) c.39+275G>C (n.39+275G>C) c.26G>C (p.Gly9Ala) | |
| 9 | g.124500673C>T | CA374888865 | NR5A1 | c.287G>A (p.Gly96Glu) c.39+275G>A (n.39+275G>A) c.26G>A (p.Gly9Glu) | |
| 9 | g.124500674C>A | CA374888868 | NR5A1 | c.286G>T (p.Gly96Trp) c.39+274G>T (n.39+274G>T) c.25G>T (p.Gly9Trp) | |
| 9 | g.124500674C>G | CA374888869 | NR5A1 | c.286G>C (p.Gly96Arg) c.39+274G>C (n.39+274G>C) c.25G>C (p.Gly9Arg) | |
| 9 | g.124500674C>T | CA374888870 | NR5A1 | c.286G>A (p.Gly96Arg) c.39+274G>A (n.39+274G>A) c.25G>A (p.Gly9Arg) | gnomAD v4 COSMIC |
| 9 | g.124500675A= | CA1878469609 | NR5A1 | c.285T= (p.Phe95=) c.39+273T= (n.39+273T=) c.24T= (p.Phe8=) | |
| 9 | g.124500675A>C | CA374888873 | NR5A1 | c.285T>G (p.Phe95Leu) c.39+273T>G (n.39+273T>G) c.24T>G (p.Phe8Leu) | |
| 9 | g.124500675A>G | CA467208283 | NR5A1 | c.285T>C (p.Phe95=) c.39+273T>C (n.39+273T>C) c.24T>C (p.Phe8=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.124500675A>T | CA374888875 | NR5A1 | c.285T>A (p.Phe95Leu) c.39+273T>A (n.39+273T>A) c.24T>A (p.Phe8Leu) | |
| 9 | g.124500676A>C | CA374888878 | NR5A1 | c.284T>G (p.Phe95Cys) c.39+272T>G (n.39+272T>G) c.23T>G (p.Phe8Cys) | |
| 9 | g.124500676A>G | CA374888884 | NR5A1 | c.284T>C (p.Phe95Ser) c.39+272T>C (n.39+272T>C) c.23T>C (p.Phe8Ser) | ClinVar dbSNP |
| 9 | g.124500676A>T | CA374888881 | NR5A1 | c.284T>A (p.Phe95Tyr) c.39+272T>A (n.39+272T>A) c.23T>A (p.Phe8Tyr) | |
| 9 | g.124500677A>C | CA374888888 | NR5A1 | c.283T>G (p.Phe95Val) c.39+271T>G (n.39+271T>G) c.22T>G (p.Phe8Val) | |
| 9 | g.124500677A>G | CA374888889 | NR5A1 | c.283T>C (p.Phe95Leu) c.39+271T>C (n.39+271T>C) c.22T>C (p.Phe8Leu) | |
| 9 | g.124500677A>T | CA374888891 | NR5A1 | c.283T>A (p.Phe95Ile) c.39+271T>A (n.39+271T>A) c.22T>A (p.Phe8Ile) |