Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.124500323_124500330del | CA2695211086 | NR5A1 | c.630_637del (p.Tyr211ProfsTer12) c.40-58_40-51del (n.40-58_40-51del) c.369_376del (p.Tyr124ProfsTer12) | |
9 | g.124500325_124500331del | CA2695211087 | NR5A1 | c.630_636del (p.Tyr211ThrfsTer?) c.40-58_40-52del (n.40-58_40-52del) c.369_375del (p.Tyr124ThrfsTer?) | |
9 | g.124500326C>A | CA374886490 | NR5A1 | c.634G>T (p.Gly212Cys) c.40-54G>T (n.40-54G>T) c.373G>T (p.Gly125Cys) | gnomAD v4 |
9 | g.124500326C= | CA1878468654 | NR5A1 | c.634G= (p.Gly212=) c.40-54G= (n.40-54G=) c.373G= (p.Gly125=) | |
9 | g.124500326C>G | CA374886492 | NR5A1 | c.634G>C (p.Gly212Arg) c.40-54G>C (n.40-54G>C) c.373G>C (p.Gly125Arg) | |
9 | g.124500326C>T | CA128718 | NR5A1 | c.634G>A (p.Gly212Ser) c.40-54G>A (n.40-54G>A) c.373G>A (p.Gly125Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124500327G>A | CA5235428 | NR5A1 | c.633C>T (p.Tyr211=) c.40-55C>T (n.40-55C>T) c.372C>T (p.Tyr124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124500327G>C | CA374886495 | NR5A1 | c.633C>G (p.Tyr211Ter) c.40-55C>G (n.40-55C>G) c.372C>G (p.Tyr124Ter) | |
9 | g.124500327G= | CA1878468663 | NR5A1 | c.633C= (p.Tyr211=) c.40-55C= (n.40-55C=) c.372C= (p.Tyr124=) | |
9 | g.124500327G>T | CA374886497 | NR5A1 | c.633C>A (p.Tyr211Ter) c.40-55C>A (n.40-55C>A) c.372C>A (p.Tyr124Ter) | gnomAD v4 |
9 | g.124500327_124500331delinsTTACT | CA2695211088 | NR5A1 | c.629_633delinsAGTAA (p.Pro210GlnfsTer2) c.40-59_40-55delinsAGTAA (n.40-59_40-55delinsAGTAA) c.368_372delinsAGTAA (p.Pro123GlnfsTer2) | |
9 | g.124500328T>A | CA374886500 | NR5A1 | c.632A>T (p.Tyr211Phe) c.40-56A>T (n.40-56A>T) c.371A>T (p.Tyr124Phe) | |
9 | g.124500328T>C | CA5235429 | NR5A1 | c.632A>G (p.Tyr211Cys) c.40-56A>G (n.40-56A>G) c.371A>G (p.Tyr124Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124500328T>G | CA374886505 | NR5A1 | c.632A>C (p.Tyr211Ser) c.40-56A>C (n.40-56A>C) c.371A>C (p.Tyr124Ser) | |
9 | g.124500328T= | CA1878468667 | NR5A1 | c.632A= (p.Tyr211=) c.40-56A= (n.40-56A=) c.371A= (p.Tyr124=) | |
9 | g.124500329A>C | CA374886508 | NR5A1 | c.631T>G (p.Tyr211Asp) c.40-57T>G (n.40-57T>G) c.370T>G (p.Tyr124Asp) | |
9 | g.124500329A>G | CA374886512 | NR5A1 | c.631T>C (p.Tyr211His) c.40-57T>C (n.40-57T>C) c.370T>C (p.Tyr124His) | |
9 | g.124500329A>T | CA374886510 | NR5A1 | c.631T>A (p.Tyr211Asn) c.40-57T>A (n.40-57T>A) c.370T>A (p.Tyr124Asn) | |
9 | g.124500330del | CA2695211089 | NR5A1 | c.630del (p.Tyr211ThrfsTer?) c.40-58del (n.40-58del) c.369del (p.Tyr124ThrfsTer?) | |
9 | g.124500330C>A | CA5235431 | NR5A1 | c.630G>T (p.Pro210=) c.40-58G>T (n.40-58G>T) c.369G>T (p.Pro123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124500330C= | CA1878468675 | NR5A1 | c.630G= (p.Pro210=) c.40-58G= (n.40-58G=) c.369G= (p.Pro123=) | |
9 | g.124500330C>G | CA467208319 | NR5A1 | c.630G>C (p.Pro210=) c.40-58G>C (n.40-58G>C) c.369G>C (p.Pro123=) | |
9 | g.124500330C>T | CA5235430 | NR5A1 | c.630G>A (p.Pro210=) c.40-58G>A (n.40-58G>A) c.369G>A (p.Pro123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.124500331G>A | CA199728830 | NR5A1 | c.629C>T (p.Pro210Leu) c.40-59C>T (n.40-59C>T) c.368C>T (p.Pro123Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.124500331G>C | CA374886518 | NR5A1 | c.629C>G (p.Pro210Arg) c.40-59C>G (n.40-59C>G) c.368C>G (p.Pro123Arg) | |
9 | g.124500331G= | CA1878468678 | NR5A1 | c.629C= (p.Pro210=) c.40-59C= (n.40-59C=) c.368C= (p.Pro123=) | |
9 | g.124500331G>T | CA374886520 | NR5A1 | c.629C>A (p.Pro210Gln) c.40-59C>A (n.40-59C>A) c.368C>A (p.Pro123Gln) | |
9 | g.124500332G>A | CA374886522 | NR5A1 | c.628C>T (p.Pro210Ser) c.40-60C>T (n.40-60C>T) c.367C>T (p.Pro123Ser) | gnomAD v4 |
9 | g.124500332G>C | CA374886523 | NR5A1 | c.628C>G (p.Pro210Ala) c.40-60C>G (n.40-60C>G) c.367C>G (p.Pro123Ala) | |
9 | g.124500332G= | CA1878468681 | NR5A1 | c.628C= (p.Pro210=) c.40-60C= (n.40-60C=) c.367C= (p.Pro123=) | |
9 | g.124500332G>T | CA374886526 | NR5A1 | c.628C>A (p.Pro210Thr) c.40-60C>A (n.40-60C>A) c.367C>A (p.Pro123Thr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.124500333C>A | CA467208325 | NR5A1 | c.627G>T (p.Leu209=) c.40-61G>T (n.40-61G>T) c.366G>T (p.Leu122=) | gnomAD v4 |
9 | g.124500333C= | CA1878468683 | NR5A1 | c.627G= (p.Leu209=) c.40-61G= (n.40-61G=) c.366G= (p.Leu122=) | |
9 | g.124500333C>G | CA467208327 | NR5A1 | c.627G>C (p.Leu209=) c.40-61G>C (n.40-61G>C) c.366G>C (p.Leu122=) | |
9 | g.124500333C>T | CA467208326 | NR5A1 | c.627G>A (p.Leu209=) c.40-61G>A (n.40-61G>A) c.366G>A (p.Leu122=) | dbSNP gnomAD v2 |
9 | g.124500334A= | CA1878468686 | NR5A1 | c.626T= (p.Leu209=) c.40-62T= (n.40-62T=) c.365T= (p.Leu122=) | |
9 | g.124500334A>C | CA374886529 | NR5A1 | c.626T>G (p.Leu209Arg) c.40-62T>G (n.40-62T>G) c.365T>G (p.Leu122Arg) | |
9 | g.124500334A>G | CA374886530 | NR5A1 | c.626T>C (p.Leu209Pro) c.40-62T>C (n.40-62T>C) c.365T>C (p.Leu122Pro) | |
9 | g.124500334A>T | CA374886532 | NR5A1 | c.626T>A (p.Leu209Gln) c.40-62T>A (n.40-62T>A) c.365T>A (p.Leu122Gln) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.124500335G>A | CA467208329 | NR5A1 | c.625C>T (p.Leu209=) c.40-63C>T (n.40-63C>T) c.364C>T (p.Leu122=) | |
9 | g.124500335G>C | CA374886533 | NR5A1 | c.625C>G (p.Leu209Val) c.40-63C>G (n.40-63C>G) c.364C>G (p.Leu122Val) | |
9 | g.124500335G>T | CA374886536 | NR5A1 | c.625C>A (p.Leu209Met) c.40-63C>A (n.40-63C>A) c.364C>A (p.Leu122Met) | gnomAD v4 |
9 | g.124500336C>A | CA467208332 | NR5A1 | c.624G>T (p.Gly208=) c.40-64G>T (n.40-64G>T) c.363G>T (p.Gly121=) | gnomAD v4 |
9 | g.124500336C>G | CA467208333 | NR5A1 | c.624G>C (p.Gly208=) c.40-64G>C (n.40-64G>C) c.363G>C (p.Gly121=) | |
9 | g.124500336C>T | CA467208334 | NR5A1 | c.624G>A (p.Gly208=) c.40-64G>A (n.40-64G>A) c.363G>A (p.Gly121=) | |
9 | g.124500338del | CA2691611071 | NR5A1 | c.624del (p.Leu209CysfsTer?) c.40-64del (n.40-64del) c.363del (p.Leu122CysfsTer?) | gnomAD v4 |
9 | g.124500337C>A | CA374886539 | NR5A1 | c.623G>T (p.Gly208Val) c.40-65G>T (n.40-65G>T) c.362G>T (p.Gly121Val) | gnomAD v4 |
9 | g.124500337C= | CA1878468690 | NR5A1 | c.623G= (p.Gly208=) c.40-65G= (n.40-65G=) c.362G= (p.Gly121=) | |
9 | g.124500337C>G | CA374886540 | NR5A1 | c.623G>C (p.Gly208Ala) c.40-65G>C (n.40-65G>C) c.362G>C (p.Gly121Ala) | |
9 | g.124500337C>T | CA374886541 | NR5A1 | c.623G>A (p.Gly208Glu) c.40-65G>A (n.40-65G>A) c.362G>A (p.Gly121Glu) | dbSNP gnomAD v2 gnomAD v4 |