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 |
|---|---|---|---|---|---|
| X | g.8731912C>A | CA412024439 | ANOS1 | c.125G>T (p.Gly42Val) c.123G>T (p.Arg41=) | |
| X | g.8731912C= | CA2414666242 | ANOS1 | c.125G= (p.Gly42=) c.123G= (p.Arg41=) | |
| X | g.8731912C>G | CA412024440 | ANOS1 | c.125G>C (p.Gly42Ala) c.123G>C (p.Arg41=) | |
| X | g.8731912C>T | CA10343862 | ANOS1 | c.125G>A (p.Gly42Glu) c.123G>A (p.Arg41=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731913C>A | CA412024441 | ANOS1 | c.124G>T (p.Gly42Trp) c.122G>T (p.Arg41Leu) | gnomAD v4 |
| X | g.8731913C= | CA2414666243 | ANOS1 | c.124G= (p.Gly42=) c.122G= (p.Arg41=) | |
| X | g.8731913C>G | CA412024442 | ANOS1 | c.124G>C (p.Gly42Arg) c.122G>C (p.Arg41Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8731913C>T | CA412024443 | ANOS1 | c.124G>A (p.Gly42Arg) c.122G>A (p.Arg41Gln) | gnomAD v4 |
| X | g.8731914G>A | CA412024444 | ANOS1 | c.123C>T (p.Ala41=) c.121C>T (p.Arg41Trp) | gnomAD v4 |
| X | g.8731914G>C | CA412024445 | ANOS1 | c.123C>G (p.Ala41=) c.121C>G (p.Arg41Gly) | |
| X | g.8731914G>T | CA515172477 | ANOS1 | c.123C>A (p.Ala41=) c.121C>A (p.Arg41=) | gnomAD v4 |
| X | g.8731915G>A | CA412024447 | ANOS1 | c.122C>T (p.Ala41Val) c.120C>T (p.Cys40=) | gnomAD v4 |
| X | g.8731915G>C | CA412024448 | ANOS1 | c.122C>G (p.Ala41Gly) c.120C>G (p.Cys40Trp) | |
| X | g.8731915G>T | CA412024446 | ANOS1 | c.122C>A (p.Ala41Asp) c.120C>A (p.Cys40Ter) | |
| X | g.8731916C>A | CA412024449 | ANOS1 | c.121G>T (p.Ala41Ser) c.119G>T (p.Cys40Phe) | gnomAD v4 |
| X | g.8731916C>G | CA412024450 | ANOS1 | c.121G>C (p.Ala41Pro) c.119G>C (p.Cys40Ser) | |
| X | g.8731916C>T | CA412024451 | ANOS1 | c.121G>A (p.Ala41Thr) c.119G>A (p.Cys40Tyr) | gnomAD v4 |
| X | g.8731917A>C | CA412024452 | ANOS1 | c.120T>G (p.Ser40=) c.118T>G (p.Cys40Gly) | |
| X | g.8731917A>G | CA412024453 | ANOS1 | c.120T>C (p.Ser40=) c.118T>C (p.Cys40Arg) | gnomAD v4 |
| X | g.8731917A>T | CA412024454 | ANOS1 | c.120T>A (p.Ser40=) c.118T>A (p.Cys40Ser) | |
| X | g.8731918G>A | CA10343863 | ANOS1 | c.119C>T (p.Ser40Phe) c.117C>T (p.Val39=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731918G>C | CA412024455 | ANOS1 | c.119C>G (p.Ser40Cys) c.117C>G (p.Val39=) | |
| X | g.8731918G= | CA2414666244 | ANOS1 | c.119C= (p.Ser40=) c.117C= (p.Val39=) | |
| X | g.8731918G>T | CA412024456 | ANOS1 | c.119C>A (p.Ser40Tyr) c.117C>A (p.Val39=) | |
| X | g.8731919A= | CA2414666245 | ANOS1 | c.118T= (p.Ser40=) c.116T= (p.Val39=) | |
| X | g.8731919A>C | CA412024457 | ANOS1 | c.118T>G (p.Ser40Ala) c.116T>G (p.Val39Gly) | |
| X | g.8731919A>G | CA412024458 | ANOS1 | c.118T>C (p.Ser40Pro) c.116T>C (p.Val39Ala) | dbSNP |
| X | g.8731919A>T | CA412024459 | ANOS1 | c.118T>A (p.Ser40Thr) c.116T>A (p.Val39Asp) | gnomAD v4 |
| X | g.8731920C>A | CA412024461 | ANOS1 | c.117G>T (p.Leu39=) c.115G>T (p.Val39Phe) | gnomAD v4 |
| X | g.8731920C>G | CA412024462 | ANOS1 | c.117G>C (p.Leu39=) c.115G>C (p.Val39Leu) | |
| X | g.8731920C>T | CA412024460 | ANOS1 | c.117G>A (p.Leu39=) c.115G>A (p.Val39Ile) | gnomAD v4 |
| X | g.8731921A= | CA2414666246 | ANOS1 | c.116T= (p.Leu39=) c.114T= (p.Ala38=) | |
| X | g.8731921A>C | CA412024463 | ANOS1 | c.116T>G (p.Leu39Arg) c.114T>G (p.Ala38=) | |
| X | g.8731921A>G | CA412024464 | ANOS1 | c.116T>C (p.Leu39Pro) c.114T>C (p.Ala38=) | dbSNP gnomAD v4 |
| X | g.8731921A>T | CA412024465 | ANOS1 | c.116T>A (p.Leu39Gln) c.114T>A (p.Ala38=) | gnomAD v4 |
| X | g.8731922G>A | CA412024466 | ANOS1 | c.115C>T (p.Leu39=) c.113C>T (p.Ala38Val) | gnomAD v4 |
| X | g.8731922G>C | CA412024467 | ANOS1 | c.115C>G (p.Leu39Val) c.113C>G (p.Ala38Gly) | |
| X | g.8731922G>T | CA412024468 | ANOS1 | c.115C>A (p.Leu39Met) c.113C>A (p.Ala38Asp) | |
| X | g.8731923C>A | CA412024471 | ANOS1 | c.114G>T (p.Ser38=) c.112G>T (p.Ala38Ser) | gnomAD v4 |
| X | g.8731923C>G | CA412024469 | ANOS1 | c.114G>C (p.Ser38=) c.112G>C (p.Ala38Pro) | gnomAD v4 |
| X | g.8731923C>T | CA412024470 | ANOS1 | c.114G>A (p.Ser38=) c.112G>A (p.Ala38Thr) | gnomAD v4 |
| X | g.8731924G>A | CA412024472 | ANOS1 | c.113C>T (p.Ser38Leu) c.111C>T (p.Val37=) | ClinVar dbSNP gnomAD v4 |
| X | g.8731924G>C | CA412024473 | ANOS1 | c.113C>G (p.Ser38Trp) c.111C>G (p.Val37=) | |
| X | g.8731924G= | CA2414666247 | ANOS1 | c.113C= (p.Ser38=) c.111C= (p.Val37=) | |
| X | g.8731924G>T | CA412024474 | ANOS1 | c.113C>A (p.Ser38Ter) c.111C>A (p.Val37=) | gnomAD v4 |
| X | g.8731925_8731934dup | CA2819624155 | ANOS1 | c.104_113dup (p.Leu39GlyfsTer?) c.102_111dup (p.Ala38TrpfsTer?) | |
| X | g.8731925A>C | CA412024475 | ANOS1 | c.112T>G (p.Ser38Ala) c.110T>G (p.Val37Gly) | |
| X | g.8731925A>G | CA412024476 | ANOS1 | c.112T>C (p.Ser38Pro) c.110T>C (p.Val37Ala) | gnomAD v4 |
| X | g.8731925A>T | CA412024477 | ANOS1 | c.112T>A (p.Ser38Thr) c.110T>A (p.Val37Asp) | |
| X | g.8731926C>A | CA412024479 | ANOS1 | c.111G>T (p.Glu37Asp) c.109G>T (p.Val37Phe) | |
| X | g.8731926C= | CA2414666248 | ANOS1 | c.111G= (p.Glu37=) c.109G= (p.Val37=) | |
| X | g.8731926C>G | CA412024480 | ANOS1 | c.111G>C (p.Glu37Asp) c.109G>C (p.Val37Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8731926C>T | CA412024478 | ANOS1 | c.111G>A (p.Glu37=) c.109G>A (p.Val37Ile) | |
| X | g.8731927T>A | CA412024481 | ANOS1 | c.110A>T (p.Glu37Val) c.108A>T (p.Arg36=) | gnomAD v4 |
| X | g.8731927T>C | CA412024483 | ANOS1 | c.110A>G (p.Glu37Gly) c.108A>G (p.Arg36=) | |
| X | g.8731927T>G | CA412024482 | ANOS1 | c.110A>C (p.Glu37Ala) c.108A>C (p.Arg36=) | |
| X | g.8731928C>A | CA412024484 | ANOS1 | c.109G>T (p.Glu37Ter) c.107G>T (p.Arg36Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.8731928C= | CA2414666249 | ANOS1 | c.109G= (p.Glu37=) c.107G= (p.Arg36=) | |
| X | g.8731928C>G | CA412024486 | ANOS1 | c.109G>C (p.Glu37Gln) c.107G>C (p.Arg36Pro) | gnomAD v4 |
| X | g.8731928C>T | CA412024485 | ANOS1 | c.109G>A (p.Glu37Lys) c.107G>A (p.Arg36Gln) | gnomAD v4 |
| X | g.8731928_8731929delinsCG | CA2414666250 | ANOS1 | c.108_109delinsCG (p.Asp36=) c.106_107delinsCG (p.Arg36=) | |
| X | g.8731929del | CA2414666251 | ANOS1 | c.108del (p.Asp36GlufsTer19) c.106del (p.Arg36GlufsTer18) | dbSNP |
| X | g.8731929G>A | CA412024487 | ANOS1 | c.108C>T (p.Asp36=) c.106C>T (p.Arg36Ter) | dbSNP gnomAD v4 |
| X | g.8731929G>C | CA10343864 | ANOS1 | c.108C>G (p.Asp36Glu) c.106C>G (p.Arg36Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.8731929G= | CA2414666252 | ANOS1 | c.108C= (p.Asp36=) c.106C= (p.Arg36=) | |
| X | g.8731929G>T | CA412024488 | ANOS1 | c.108C>A (p.Asp36Glu) c.106C>A (p.Arg36=) | gnomAD v4 |
| X | g.8731930T>A | CA412024489 | ANOS1 | c.107A>T (p.Asp36Val) c.105A>T (p.Gly35=) | |
| X | g.8731930T>C | CA412024490 | ANOS1 | c.107A>G (p.Asp36Gly) c.105A>G (p.Gly35=) | gnomAD v4 |
| X | g.8731930T>G | CA412024491 | ANOS1 | c.107A>C (p.Asp36Ala) c.105A>C (p.Gly35=) | |
| X | g.8731931C>A | CA412024492 | ANOS1 | c.106G>T (p.Asp36Tyr) c.104G>T (p.Gly35Val) | |
| X | g.8731931C>G | CA412024493 | ANOS1 | c.106G>C (p.Asp36His) c.104G>C (p.Gly35Ala) | |
| X | g.8731931C>T | CA412024494 | ANOS1 | c.106G>A (p.Asp36Asn) c.104G>A (p.Gly35Glu) | gnomAD v4 |
| X | g.8731933_8731961del | CA2819624156 | ANOS1 | c.78_106del (p.Pro27ArgfsTer?) c.77_104del | |
| X | g.8731932C>A | CA412024495 | ANOS1 | c.105G>T (p.Leu35=) c.103G>T (p.Gly35Ter) | gnomAD v4 |
| X | g.8731932C>G | CA412024496 | ANOS1 | c.105G>C (p.Leu35=) c.103G>C (p.Gly35Arg) | |
| X | g.8731932C>T | CA412024497 | ANOS1 | c.105G>A (p.Leu35=) c.103G>A (p.Gly35Arg) | |
| X | g.8731936_8731946dup | CA2573055419 | ANOS1 | c.95_105dup (p.Asp36ArgfsTer23) c.93_103dup | ClinVar dbSNP |
| X | g.8731933A>C | CA412024498 | ANOS1 | c.104T>G (p.Leu35Arg) c.102T>G (p.Ala34=) | |
| X | g.8731933A>G | CA412024500 | ANOS1 | c.104T>C (p.Leu35Pro) c.102T>C (p.Ala34=) | |
| X | g.8731933A>T | CA412024499 | ANOS1 | c.104T>A (p.Leu35Gln) c.102T>A (p.Ala34=) | |
| X | g.8731934_8731935insACTCGTCCAAG | CA2695231216 | ANOS1 | c.104_105insTGGACGAGTCT (p.Asp36GlyfsTer23) c.102_103insTGGACGAGTCT (p.Gly35TrpfsTer23) | |
| X | g.8731934G>A | CA412024501 | ANOS1 | c.103C>T (p.Leu35=) c.101C>T (p.Ala34Val) | gnomAD v4 |
| X | g.8731934G>C | CA412024502 | ANOS1 | c.103C>G (p.Leu35Val) c.101C>G (p.Ala34Gly) | |
| X | g.8731934G>T | CA412024503 | ANOS1 | c.103C>A (p.Leu35Met) c.101C>A (p.Ala34Asp) | gnomAD v4 |
| X | g.8731940_8731968del | CA2693054540 | ANOS1 | c.75_103del (p.Pro27ArgfsTer?) c.74_101del | gnomAD v4 |
| X | g.8731935C>A | CA412024504 | ANOS1 | c.102G>T (p.Arg34=) c.100G>T (p.Ala34Ser) | |
| X | g.8731935C= | CA2414666253 | ANOS1 | c.102G= (p.Arg34=) c.100G= (p.Ala34=) | |
| X | g.8731935C>G | CA412024505 | ANOS1 | c.102G>C (p.Arg34=) c.100G>C (p.Ala34Pro) | dbSNP |
| X | g.8731935C>T | CA412024506 | ANOS1 | c.102G>A (p.Arg34=) c.100G>A (p.Ala34Thr) | gnomAD v4 |
| X | g.8731936C>A | CA412024507 | ANOS1 | c.101G>T (p.Arg34Leu) c.99G>T (p.Ala33=) | gnomAD v4 |
| X | g.8731936C= | CA2414666254 | ANOS1 | c.101G= (p.Arg34=) c.99G= (p.Ala33=) | |
| X | g.8731936C>G | CA412024508 | ANOS1 | c.101G>C (p.Arg34Pro) c.99G>C (p.Ala33=) | |
| X | g.8731936C>T | CA412024509 | ANOS1 | c.101G>A (p.Arg34Gln) c.99G>A (p.Ala33=) | |
| X | g.8731937_8731938del | CA2695231217 | ANOS1 | c.100_101del (p.Arg34AlafsTer?) c.98_99del (p.Ala33GlyfsTer?) | |
| X | g.8731937G>A | CA412024512 | ANOS1 | c.100C>T (p.Arg34Trp) c.98C>T (p.Ala33Val) | gnomAD v4 |
| X | g.8731937G>C | CA412024511 | ANOS1 | c.100C>G (p.Arg34Gly) c.98C>G (p.Ala33Gly) | |
| X | g.8731937G>T | CA412024510 | ANOS1 | c.100C>A (p.Arg34=) c.98C>A (p.Ala33Glu) | gnomAD v4 |
| X | g.8731944_8731954dup | CA658799578 | ANOS1 | c.90_100dup (p.Arg34LeufsTer25) c.89_98dup | ClinVar dbSNP |
| X | g.8731944_8731954del | CA2695231218 | ANOS1 | c.90_100del (p.Ala32GlyfsTer?) c.89_98del | |
| X | g.8731938C>A | CA412024513 | ANOS1 | c.99G>T (p.Arg33=) c.97G>T (p.Ala33Ser) | gnomAD v4 |
| X | g.8731938C= | CA2414666255 | ANOS1 | c.99G= (p.Arg33=) c.97G= (p.Ala33=) | |
| X | g.8731938C>G | CA412024514 | ANOS1 | c.99G>C (p.Arg33=) c.97G>C (p.Ala33Pro) | |
| X | g.8731938C>T | CA412024515 | ANOS1 | c.99G>A (p.Arg33=) c.97G>A (p.Ala33Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8731939C>A | CA412024516 | ANOS1 | c.98G>T (p.Arg33Leu) c.96G>T (p.Ala32=) | gnomAD v4 |
| X | g.8731939C= | CA2414666256 | ANOS1 | c.98G= (p.Arg33=) c.96G= (p.Ala32=) | |
| X | g.8731939C>G | CA10343865 | ANOS1 | c.98G>C (p.Arg33Pro) c.96G>C (p.Ala32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731939C>T | CA412024517 | ANOS1 | c.98G>A (p.Arg33Gln) c.96G>A (p.Ala32=) | gnomAD v4 |
| X | g.8731940G>A | CA412024518 | ANOS1 | c.97C>T (p.Arg33Trp) c.95C>T (p.Ala32Val) | gnomAD v4 |
| X | g.8731940G>C | CA412024519 | ANOS1 | c.97C>G (p.Arg33Gly) c.95C>G (p.Ala32Gly) | |
| X | g.8731940G>T | CA412024520 | ANOS1 | c.97C>A (p.Arg33=) c.95C>A (p.Ala32Glu) | |
| X | g.8731941C>A | CA412024521 | ANOS1 | c.96G>T (p.Ala32=) c.94G>T (p.Ala32Ser) | gnomAD v4 |
| X | g.8731941C>G | CA412024522 | ANOS1 | c.96G>C (p.Ala32=) c.94G>C (p.Ala32Pro) | |
| X | g.8731941C>T | CA412024523 | ANOS1 | c.96G>A (p.Ala32=) c.94G>A (p.Ala32Thr) | gnomAD v4 |
| X | g.8731942G>A | CA412024526 | ANOS1 | c.95C>T (p.Ala32Val) c.93C>T (p.Cys31=) | gnomAD v4 |
| X | g.8731942G>C | CA412024524 | ANOS1 | c.95C>G (p.Ala32Gly) c.93C>G (p.Cys31Trp) | |
| X | g.8731942G>T | CA412024525 | ANOS1 | c.95C>A (p.Ala32Glu) c.93C>A (p.Cys31Ter) | |
| X | g.8731943C>A | CA412024527 | ANOS1 | c.94G>T (p.Ala32Ser) c.92G>T (p.Cys31Phe) | gnomAD v4 |
| X | g.8731943C>G | CA412024528 | ANOS1 | c.94G>C (p.Ala32Pro) c.92G>C (p.Cys31Ser) | |
| X | g.8731943C>T | CA412024529 | ANOS1 | c.94G>A (p.Ala32Thr) c.92G>A (p.Cys31Tyr) | gnomAD v4 |
| X | g.8731944A= | CA2414666257 | ANOS1 | c.93T= (p.Ala31=) c.91T= (p.Cys31=) | |
| X | g.8731944A>C | CA412024530 | ANOS1 | c.93T>G (p.Ala31=) c.91T>G (p.Cys31Gly) | gnomAD v4 |
| X | g.8731944A>G | CA412024531 | ANOS1 | c.93T>C (p.Ala31=) c.91T>C (p.Cys31Arg) | gnomAD v4 |
| X | g.8731944A>T | CA412024532 | ANOS1 | c.93T>A (p.Ala31=) c.91T>A (p.Cys31Ser) | dbSNP |
| X | g.8731945G>A | CA10343866 | ANOS1 | c.92C>T (p.Ala31Val) c.91-1C>T (n.91-1C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731945G>C | CA412024533 | ANOS1 | c.92C>G (p.Ala31Gly) c.91-1C>G (n.91-1C>G) | |
| X | g.8731945G= | CA2414666258 | ANOS1 | c.92C= (p.Ala31=) c.91-1C= (n.91-1C=) | |
| X | g.8731945G>T | CA412024534 | ANOS1 | c.92C>A (p.Ala31Asp) c.91-1C>A (n.91-1C>A) | gnomAD v4 |
| X | g.8731953_8731978dup | CA2499226896 | ANOS1 | c.67_92dup (p.Ala32TrpfsTer32) c.66_91-1dup | ClinVar dbSNP |
| X | g.8731953_8731978del | CA2693054541 | ANOS1 | c.67_92del (p.Leu23CysfsTer?) c.66_91-1del | gnomAD v4 |
| X | g.8731946C>A | CA412024535 | ANOS1 | c.91G>T (p.Ala31Ser) c.90G>T (p.Leu30=) | gnomAD v4 |
| X | g.8731946C>G | CA412024536 | ANOS1 | c.91G>C (p.Ala31Pro) c.90G>C (p.Leu30=) | |
| X | g.8731946C>T | CA412024537 | ANOS1 | c.91G>A (p.Ala31Thr) c.90G>A (p.Leu30=) | gnomAD v4 |
| X | g.8731947A= | CA2414666259 | ANOS1 | c.90T= (p.Ala30=) c.89T= (p.Leu30=) | |
| X | g.8731947A>C | CA412024538 | ANOS1 | c.90T>G (p.Ala30=) c.89T>G (p.Leu30Arg) | |
| X | g.8731947A>G | CA412024539 | ANOS1 | c.90T>C (p.Ala30=) c.89T>C (p.Leu30Pro) | |
| X | g.8731947A>T | CA10343867 | ANOS1 | c.90T>A (p.Ala30=) c.89T>A (p.Leu30Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731948G>A | CA412024540 | ANOS1 | c.89C>T (p.Ala30Val) c.88C>T (p.Leu30=) | gnomAD v3 gnomAD v4 |
| X | g.8731948G>C | CA412024541 | ANOS1 | c.89C>G (p.Ala30Gly) c.88C>G (p.Leu30Val) | |
| X | g.8731948G>T | CA412024542 | ANOS1 | c.89C>A (p.Ala30Asp) c.88C>A (p.Leu30Met) | gnomAD v4 |
| X | g.8731949C>A | CA412024543 | ANOS1 | c.88G>T (p.Ala30Ser) c.87G>T (p.Arg29=) | |
| X | g.8731949C>G | CA412024544 | ANOS1 | c.88G>C (p.Ala30Pro) c.87G>C (p.Arg29=) | |
| X | g.8731949C>T | CA412024545 | ANOS1 | c.88G>A (p.Ala30Thr) c.87G>A (p.Arg29=) | gnomAD v4 |
| X | g.8731950C>A | CA412024548 | ANOS1 | c.87G>T (p.Ala29=) c.86G>T (p.Arg29Leu) | gnomAD v4 |
| X | g.8731950C= | CA2414666260 | ANOS1 | c.87G= (p.Ala29=) c.86G= (p.Arg29=) | |
| X | g.8731950C>G | CA412024546 | ANOS1 | c.87G>C (p.Ala29=) c.86G>C (p.Arg29Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8731950C>T | CA412024547 | ANOS1 | c.87G>A (p.Ala29=) c.86G>A (p.Arg29Gln) | gnomAD v4 |
| X | g.8731951G>A | CA412024549 | ANOS1 | c.86C>T (p.Ala29Val) c.85C>T (p.Arg29Trp) | gnomAD v4 |
| X | g.8731951G>C | CA412024550 | ANOS1 | c.86C>G (p.Ala29Gly) c.85C>G (p.Arg29Gly) | |
| X | g.8731951G>T | CA412024551 | ANOS1 | c.86C>A (p.Ala29Glu) c.85C>A (p.Arg29=) | |
| X | g.8731952C>A | CA412024552 | ANOS1 | c.85G>T (p.Ala29Ser) c.84G>T (p.Ala28=) | gnomAD v4 |
| X | g.8731952C= | CA2414666261 | ANOS1 | c.85G= (p.Ala29=) c.84G= (p.Ala28=) | |
| X | g.8731952C>G | CA412024553 | ANOS1 | c.85G>C (p.Ala29Pro) c.84G>C (p.Ala28=) | |
| X | g.8731952C>T | CA412024554 | ANOS1 | c.85G>A (p.Ala29Thr) c.84G>A (p.Ala28=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731953G>A | CA412024555 | ANOS1 | c.84C>T (p.Gly28=) c.83C>T (p.Ala28Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8731953G>C | CA412024557 | ANOS1 | c.84C>G (p.Gly28=) c.83C>G (p.Ala28Gly) | |
| X | g.8731953G= | CA2414666262 | ANOS1 | c.84C= (p.Gly28=) c.83C= (p.Ala28=) | |
| X | g.8731953G>T | CA412024556 | ANOS1 | c.84C>A (p.Gly28=) c.83C>A (p.Ala28Glu) | |
| X | g.8731954C>A | CA412024558 | ANOS1 | c.83G>T (p.Gly28Val) c.82G>T (p.Ala28Ser) | |
| X | g.8731954C= | CA2414666263 | ANOS1 | c.83G= (p.Gly28=) c.82G= (p.Ala28=) | |
| X | g.8731954C>G | CA412024559 | ANOS1 | c.83G>C (p.Gly28Ala) c.82G>C (p.Ala28Pro) | |
| X | g.8731954C>T | CA10343868 | ANOS1 | c.83G>A (p.Gly28Asp) c.82G>A (p.Ala28Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731955C>A | CA412024560 | ANOS1 | c.82G>T (p.Gly28Cys) c.81G>T (p.Pro27=) | gnomAD v4 |
| X | g.8731955C= | CA2414666264 | ANOS1 | c.82G= (p.Gly28=) c.81G= (p.Pro27=) | |
| X | g.8731955C>G | CA412024561 | ANOS1 | c.82G>C (p.Gly28Arg) c.81G>C (p.Pro27=) | dbSNP gnomAD v4 |
| X | g.8731955C>T | CA412024562 | ANOS1 | c.82G>A (p.Gly28Ser) c.81G>A (p.Pro27=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8731956G>A | CA412024563 | ANOS1 | c.81C>T (p.Pro27=) c.80C>T (p.Pro27Leu) | dbSNP gnomAD v4 |
| X | g.8731956G>C | CA412024564 | ANOS1 | c.81C>G (p.Pro27=) c.80C>G (p.Pro27Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8731956G= | CA2414666265 | ANOS1 | c.81C= (p.Pro27=) c.80C= (p.Pro27=) | |
| X | g.8731956G>T | CA326499253 | ANOS1 | c.81C>A (p.Pro27=) c.80C>A (p.Pro27Gln) | dbSNP |
| X | g.8731959del | CA2693054542 | ANOS1 | c.81del (p.Gly28AlafsTer27) c.80del (p.Pro27ArgfsTer27) | gnomAD v4 |
| X | g.8731957G>A | CA412024565 | ANOS1 | c.80C>T (p.Pro27Leu) c.79C>T (p.Pro27Ser) | gnomAD v4 |
| X | g.8731957G>C | CA412024566 | ANOS1 | c.80C>G (p.Pro27Arg) c.79C>G (p.Pro27Ala) | |
| X | g.8731957G>T | CA412024567 | ANOS1 | c.80C>A (p.Pro27His) c.79C>A (p.Pro27Thr) | |
| X | g.8731958G>A | CA412024568 | ANOS1 | c.79C>T (p.Pro27Ser) c.78C>T (p.Ala26=) | gnomAD v4 |
| X | g.8731958G>C | CA326499254 | ANOS1 | c.79C>G (p.Pro27Ala) c.78C>G (p.Ala26=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731958G= | CA2414666266 | ANOS1 | c.79C= (p.Pro27=) c.78C= (p.Ala26=) | |
| X | g.8731958G>T | CA412024569 | ANOS1 | c.79C>A (p.Pro27Thr) c.78C>A (p.Ala26=) | gnomAD v4 |
| X | g.8731959G>A | CA412024570 | ANOS1 | c.78C>T (p.Gly26=) c.77C>T (p.Ala26Val) | gnomAD v4 |
| X | g.8731959G>C | CA412024571 | ANOS1 | c.78C>G (p.Gly26=) c.77C>G (p.Ala26Gly) | |
| X | g.8731959G>T | CA412024572 | ANOS1 | c.78C>A (p.Gly26=) c.77C>A (p.Ala26Asp) | |
| X | g.8731960C>A | CA412024573 | ANOS1 | c.77G>T (p.Gly26Val) c.76G>T (p.Ala26Ser) | gnomAD v4 |
| X | g.8731960C= | CA2414666267 | ANOS1 | c.77G= (p.Gly26=) c.76G= (p.Ala26=) | |
| X | g.8731960C>G | CA412024574 | ANOS1 | c.77G>C (p.Gly26Ala) c.76G>C (p.Ala26Pro) | gnomAD v4 |
| X | g.8731960C>T | CA412024575 | ANOS1 | c.77G>A (p.Gly26Asp) c.76G>A (p.Ala26Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.8731961C>A | CA412024576 | ANOS1 | c.76G>T (p.Gly26Cys) c.75G>T (p.Pro25=) | gnomAD v4 |
| X | g.8731961C= | CA2414666269 | ANOS1 | c.76G= (p.Gly26=) c.75G= (p.Pro25=) | |
| X | g.8731961C>G | CA10343869 | ANOS1 | c.76G>C (p.Gly26Arg) c.75G>C (p.Pro25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731961C>T | CA412024577 | ANOS1 | c.76G>A (p.Gly26Ser) c.75G>A (p.Pro25=) | gnomAD v4 |
| X | g.8731961_8731982delinsCGGCCGCCAGGCAGCCGCTGGA | CA2414666268 | ANOS1 | c.55_76delinsTCCAGCGGCTGCCTGGCGGCCG (p.Ser19=) c.55_75delinsTCCAGCGGCTGCCTGGCGGCCG | |
| X | g.8731962G>A | CA412024578 | ANOS1 | c.75C>T (p.Ala25=) c.74C>T (p.Pro25Leu) | gnomAD v4 |
| X | g.8731962G>C | CA412024579 | ANOS1 | c.75C>G (p.Ala25=) c.74C>G (p.Pro25Arg) | dbSNP gnomAD v4 |
| X | g.8731962G= | CA2414666270 | ANOS1 | c.75C= (p.Ala25=) c.74C= (p.Pro25=) | |
| X | g.8731962G>T | CA412024580 | ANOS1 | c.75C>A (p.Ala25=) c.74C>A (p.Pro25Gln) | gnomAD v4 |
| X | g.8731971_8731991dup | CA2693054543 | ANOS1 | c.55_75dup (p.Ala25_Gly26insSerSerGlyCysLeuAlaAla) c.55_74dup | gnomAD v4 |
| X | g.8731971_8731991del | CA10343870 | ANOS1 | c.55_75del (p.Ser19_Ala25del) c.55_74del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731963G>A | CA412024583 | ANOS1 | c.74C>T (p.Ala25Val) c.73C>T (p.Pro25Ser) | gnomAD v4 |
| X | g.8731963G>C | CA412024581 | ANOS1 | c.74C>G (p.Ala25Gly) c.73C>G (p.Pro25Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731963G= | CA2414666271 | ANOS1 | c.74C= (p.Ala25=) c.73C= (p.Pro25=) | |
| X | g.8731963G>T | CA412024582 | ANOS1 | c.74C>A (p.Ala25Asp) c.73C>A (p.Pro25Thr) | |
| X | g.8731963_8731964delinsGC | CA2414666272 | ANOS1 | c.73_74delinsGC (p.Ala25=) c.72_73delinsGC (p.Arg24=) | |
| X | g.8731964C>A | CA412024584 | ANOS1 | c.73G>T (p.Ala25Ser) c.72G>T (p.Arg24=) | gnomAD v4 |
| X | g.8731964C= | CA2414666274 | ANOS1 | c.73G= (p.Ala25=) c.72G= (p.Arg24=) | |
| X | g.8731964C>G | CA412024585 | ANOS1 | c.73G>C (p.Ala25Pro) c.72G>C (p.Arg24=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8731964C>T | CA412024586 | ANOS1 | c.73G>A (p.Ala25Thr) c.72G>A (p.Arg24=) | gnomAD v4 |
| X | g.8731965del | CA2414666273 | ANOS1 | c.73del (p.Ala25ProfsTer30) c.72del (p.Pro25ArgfsTer29) | dbSNP |
| X | g.8731965C>A | CA412024587 | ANOS1 | c.72G>T (p.Ala24=) c.71G>T (p.Arg24Leu) | |
| X | g.8731965C= | CA2414666275 | ANOS1 | c.72G= (p.Ala24=) c.71G= (p.Arg24=) | |
| X | g.8731965C>G | CA412024588 | ANOS1 | c.72G>C (p.Ala24=) c.71G>C (p.Arg24Pro) | |
| X | g.8731965C>T | CA10343871 | ANOS1 | c.72G>A (p.Ala24=) c.71G>A (p.Arg24Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731966G>A | CA412024589 | ANOS1 | c.71C>T (p.Ala24Val) c.70C>T (p.Arg24Trp) | gnomAD v4 |
| X | g.8731966G>C | CA412024590 | ANOS1 | c.71C>G (p.Ala24Gly) c.70C>G (p.Arg24Gly) | |
| X | g.8731966G>T | CA412024591 | ANOS1 | c.71C>A (p.Ala24Glu) c.70C>A (p.Arg24=) | |
| X | g.8731967C>A | CA412024592 | ANOS1 | c.70G>T (p.Ala24Ser) c.69G>T (p.Trp23Cys) | |
| X | g.8731967C= | CA2414666276 | ANOS1 | c.70G= (p.Ala24=) c.69G= (p.Trp23=) | |
| X | g.8731967C>G | CA412024593 | ANOS1 | c.70G>C (p.Ala24Pro) c.69G>C (p.Trp23Cys) | |
| X | g.8731967C>T | CA412024594 | ANOS1 | c.70G>A (p.Ala24Thr) c.69G>A (p.Trp23Ter) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8731968del | CA2693054544 | ANOS1 | c.70del (p.Ala24ArgfsTer?) c.69del (p.Trp23CysfsTer?) | gnomAD v4 |
| X | g.8731968C>A | CA412024597 | ANOS1 | c.69G>T (p.Leu23=) c.68G>T (p.Trp23Leu) | gnomAD v4 |
| X | g.8731968C>G | CA412024596 | ANOS1 | c.69G>C (p.Leu23=) c.68G>C (p.Trp23Ser) | gnomAD v4 |
| X | g.8731968C>T | CA412024595 | ANOS1 | c.69G>A (p.Leu23=) c.68G>A (p.Trp23Ter) | gnomAD v4 |
| X | g.8731969A>C | CA412024598 | ANOS1 | c.68T>G (p.Leu23Arg) c.67T>G (p.Trp23Gly) | |
| X | g.8731969A>G | CA412024600 | ANOS1 | c.68T>C (p.Leu23Pro) c.67T>C (p.Trp23Arg) | gnomAD v4 |
| X | g.8731969A>T | CA412024599 | ANOS1 | c.68T>A (p.Leu23Gln) c.67T>A (p.Trp23Arg) | |
| X | g.8731970G>A | CA515172507 | ANOS1 | c.67C>T (p.Leu23=) c.66C>T (p.Ala22=) | |
| X | g.8731970G>C | CA412024601 | ANOS1 | c.67C>G (p.Leu23Val) c.66C>G (p.Ala22=) | |
| X | g.8731970G>T | CA412024602 | ANOS1 | c.67C>A (p.Leu23Met) c.66C>A (p.Ala22=) | |
| X | g.8731971_8731984del | CA2695231219 | ANOS1 | c.54_67del (p.Ser19GlyfsTer?) c.54_66del | |
| X | g.8731971G>A | CA326499255 | ANOS1 | c.66C>T (p.Cys22=) c.65C>T (p.Ala22Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8731971G>C | CA412024604 | ANOS1 | c.66C>G (p.Cys22Trp) c.65C>G (p.Ala22Gly) | |
| X | g.8731971G= | CA2414666277 | ANOS1 | c.66C= (p.Cys22=) c.65C= (p.Ala22=) | |
| X | g.8731971G>T | CA412024603 | ANOS1 | c.66C>A (p.Cys22Ter) c.65C>A (p.Ala22Asp) | |
| X | g.8731972C>A | CA412024605 | ANOS1 | c.65G>T (p.Cys22Phe) c.64G>T (p.Ala22Ser) | gnomAD v4 |
| X | g.8731972C>G | CA412024607 | ANOS1 | c.65G>C (p.Cys22Ser) c.64G>C (p.Ala22Pro) | |
| X | g.8731972C>T | CA412024606 | ANOS1 | c.65G>A (p.Cys22Tyr) c.64G>A (p.Ala22Thr) | gnomAD v4 |
| X | g.8731973A>C | CA412024608 | ANOS1 | c.64T>G (p.Cys22Gly) c.64-1T>G (n.64-1T>G) | |
| X | g.8731973A>G | CA412024609 | ANOS1 | c.64T>C (p.Cys22Arg) c.64-1T>C (n.64-1T>C) | gnomAD v4 |
| X | g.8731973A>T | CA412024610 | ANOS1 | c.64T>A (p.Cys22Ser) c.64-1T>A (n.64-1T>A) | |
| X | g.8731974G>A | CA412024611 | ANOS1 | c.63C>T (p.Gly21=) | gnomAD v4 |
| X | g.8731974G>C | CA412024612 | ANOS1 | c.63C>G (p.Gly21=) | |
| X | g.8731974G>T | CA412024613 | ANOS1 | c.63C>A (p.Gly21=) | gnomAD v4 |
| X | g.8731975C>A | CA412024614 | ANOS1 | c.62G>T (p.Gly21Val) | gnomAD v4 |
| X | g.8731975C= | CA2414666278 | ANOS1 | c.62G= (p.Gly21=) | |
| X | g.8731975C>G | CA412024615 | ANOS1 | c.62G>C (p.Gly21Ala) | |
| X | g.8731975C>T | CA326499256 | ANOS1 | c.62G>A (p.Gly21Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8731976C>A | CA412024618 | ANOS1 | c.61G>T (p.Gly21Cys) | gnomAD v4 |
| X | g.8731976C= | CA2414666279 | ANOS1 | c.61G= (p.Gly21=) | |
| X | g.8731976C>G | CA412024617 | ANOS1 | c.61G>C (p.Gly21Arg) | |
| X | g.8731976C>T | CA412024616 | ANOS1 | c.61G>A (p.Gly21Ser) | dbSNP gnomAD v4 |
| X | g.8731977G>A | CA515172508 | ANOS1 | c.60C>T (p.Ser20=) | gnomAD v4 |
| X | g.8731977G>C | CA412024619 | ANOS1 | c.60C>G (p.Ser20Arg) | |
| X | g.8731977G>T | CA412024620 | ANOS1 | c.60C>A (p.Ser20Arg) | gnomAD v4 |
| X | g.8731978C>A | CA412024621 | ANOS1 | c.59G>T (p.Ser20Ile) | gnomAD v4 |
| X | g.8731978C>G | CA412024622 | ANOS1 | c.59G>C (p.Ser20Thr) | |
| X | g.8731978C>T | CA412024623 | ANOS1 | c.59G>A (p.Ser20Asn) | |
| X | g.8731979T>A | CA412024624 | ANOS1 | c.58A>T (p.Ser20Cys) | |
| X | g.8731979T>C | CA412024625 | ANOS1 | c.58A>G (p.Ser20Gly) | gnomAD v4 |
| X | g.8731979T>G | CA412024626 | ANOS1 | c.58A>C (p.Ser20Arg) | |
| X | g.8731980G>A | CA515172510 | ANOS1 | c.57C>T (p.Ser19=) | gnomAD v4 |
| X | g.8731980G>C | CA515172511 | ANOS1 | c.57C>G (p.Ser19=) | gnomAD v4 |
| X | g.8731980G>T | CA515172509 | ANOS1 | c.57C>A (p.Ser19=) | gnomAD v4 |
| X | g.8731981G>A | CA412024627 | ANOS1 | c.56C>T (p.Ser19Phe) | dbSNP gnomAD v4 |
| X | g.8731981G>C | CA412024628 | ANOS1 | c.56C>G (p.Ser19Cys) | |
| X | g.8731981G= | CA2414666280 | ANOS1 | c.56C= (p.Ser19=) | |
| X | g.8731981G>T | CA412024629 | ANOS1 | c.56C>A (p.Ser19Tyr) | gnomAD v4 |
| X | g.8731982A>C | CA412024631 | ANOS1 | c.55T>G (p.Ser19Ala) | |
| X | g.8731982A>G | CA412024632 | ANOS1 | c.55T>C (p.Ser19Pro) | gnomAD v4 |
| X | g.8731982A>T | CA412024630 | ANOS1 | c.55T>A (p.Ser19Thr) | |
| X | g.8731983G>A | CA515172514 | ANOS1 | c.54C>T (p.Ala18=) | gnomAD v4 |
| X | g.8731983G>C | CA515172513 | ANOS1 | c.54C>G (p.Ala18=) | |
| X | g.8731983G>T | CA515172512 | ANOS1 | c.54C>A (p.Ala18=) | gnomAD v4 |
| X | g.8731984G>A | CA412024633 | ANOS1 | c.53C>T (p.Ala18Val) | gnomAD v4 |
| X | g.8731984G>C | CA412024634 | ANOS1 | c.53C>G (p.Ala18Gly) | dbSNP |
| X | g.8731984G= | CA2414666281 | ANOS1 | c.53C= (p.Ala18=) | |
| X | g.8731984G>T | CA412024635 | ANOS1 | c.53C>A (p.Ala18Asp) | gnomAD v4 |
| X | g.8731985C>A | CA412024636 | ANOS1 | c.52G>T (p.Ala18Ser) | gnomAD v4 |
| X | g.8731985C>G | CA412024637 | ANOS1 | c.52G>C (p.Ala18Pro) | gnomAD v4 |
| X | g.8731985C>T | CA412024638 | ANOS1 | c.52G>A (p.Ala18Thr) | gnomAD v4 |
| X | g.8731986C>A | CA10343872 | ANOS1 | c.51G>T (p.Ala17=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.8731986C= | CA2414666282 | ANOS1 | c.51G= (p.Ala17=) | |
| X | g.8731986C>G | CA515172516 | ANOS1 | c.51G>C (p.Ala17=) | |
| X | g.8731986C>T | CA515172515 | ANOS1 | c.51G>A (p.Ala17=) | gnomAD v4 |
| X | g.8731987G>A | CA412024639 | ANOS1 | c.50C>T (p.Ala17Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8731987G>C | CA412024640 | ANOS1 | c.50C>G (p.Ala17Gly) | gnomAD v4 |
| X | g.8731987G= | CA2414666283 | ANOS1 | c.50C= (p.Ala17=) | |
| X | g.8731987G>T | CA412024641 | ANOS1 | c.50C>A (p.Ala17Glu) | gnomAD v4 |
| X | g.8731988C>A | CA412024642 | ANOS1 | c.49G>T (p.Ala17Ser) | gnomAD v4 |
| X | g.8731988C>G | CA412024643 | ANOS1 | c.49G>C (p.Ala17Pro) | |
| X | g.8731988C>T | CA412024644 | ANOS1 | c.49G>A (p.Ala17Thr) | gnomAD v4 |
| X | g.8731989C>A | CA515172517 | ANOS1 | c.48G>T (p.Leu16=) | gnomAD v4 |
| X | g.8731989C>G | CA515172518 | ANOS1 | c.48G>C (p.Leu16=) | |
| X | g.8731989C>T | CA515172519 | ANOS1 | c.48G>A (p.Leu16=) | gnomAD v4 |
| X | g.8731990A>C | CA412024645 | ANOS1 | c.47T>G (p.Leu16Arg) | |
| X | g.8731990A>G | CA412024647 | ANOS1 | c.47T>C (p.Leu16Pro) | gnomAD v4 |
| X | g.8731990A>T | CA412024646 | ANOS1 | c.47T>A (p.Leu16Gln) | gnomAD v4 |
| X | g.8731991G>A | CA515172520 | ANOS1 | c.46C>T (p.Leu16=) | gnomAD v4 |
| X | g.8731991G>C | CA412024648 | ANOS1 | c.46C>G (p.Leu16Val) | |
| X | g.8731991G>T | CA412024649 | ANOS1 | c.46C>A (p.Leu16Met) | gnomAD v4 |
| X | g.8731992C>A | CA412024650 | ANOS1 | c.45G>T (p.Trp15Cys) | gnomAD v4 |
| X | g.8731992C>G | CA412024651 | ANOS1 | c.45G>C (p.Trp15Cys) | gnomAD v4 |
| X | g.8731992C>T | CA412024652 | ANOS1 | c.45G>A (p.Trp15Ter) | gnomAD v4 |
| X | g.8731993C>A | CA412024653 | ANOS1 | c.44G>T (p.Trp15Leu) | |
| X | g.8731993C= | CA2414666284 | ANOS1 | c.44G= (p.Trp15=) | |
| X | g.8731993C>G | CA412024654 | ANOS1 | c.44G>C (p.Trp15Ser) | |
| X | g.8731993C>T | CA412024655 | ANOS1 | c.44G>A (p.Trp15Ter) | dbSNP gnomAD v4 |
| X | g.8731994A>C | CA412024656 | ANOS1 | c.43T>G (p.Trp15Gly) | |
| X | g.8731994A>G | CA412024657 | ANOS1 | c.43T>C (p.Trp15Arg) | gnomAD v4 |
| X | g.8731994A>T | CA412024658 | ANOS1 | c.43T>A (p.Trp15Arg) | gnomAD v4 |
| X | g.8731995G>A | CA515172521 | ANOS1 | c.42C>T (p.Leu14=) | gnomAD v4 |
| X | g.8731995G>C | CA515172522 | ANOS1 | c.42C>G (p.Leu14=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8731995G= | CA2414666285 | ANOS1 | c.42C= (p.Leu14=) | |
| X | g.8731995G>T | CA515172523 | ANOS1 | c.42C>A (p.Leu14=) | gnomAD v4 |
| X | g.8731996A>C | CA412024661 | ANOS1 | c.41T>G (p.Leu14Arg) | |
| X | g.8731996A>G | CA412024660 | ANOS1 | c.41T>C (p.Leu14Pro) | gnomAD v4 |
| X | g.8731996A>T | CA412024659 | ANOS1 | c.41T>A (p.Leu14His) | |
| X | g.8731997G>A | CA326499257 | ANOS1 | c.40C>T (p.Leu14Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8731997G>C | CA412024663 | ANOS1 | c.40C>G (p.Leu14Val) | |
| X | g.8731997G= | CA2414666286 | ANOS1 | c.40C= (p.Leu14=) | |
| X | g.8731997G>T | CA412024662 | ANOS1 | c.40C>A (p.Leu14Ile) | dbSNP gnomAD v4 |
| X | g.8731998G>A | CA515172524 | ANOS1 | c.39C>T (p.Cys13=) | gnomAD v4 |
| X | g.8731998G>C | CA412024664 | ANOS1 | c.39C>G (p.Cys13Trp) | gnomAD v4 |
| X | g.8731998G>T | CA412024665 | ANOS1 | c.39C>A (p.Cys13Ter) | gnomAD v4 |
| X | g.8731999C>A | CA412024666 | ANOS1 | c.38G>T (p.Cys13Phe) | gnomAD v4 |
| X | g.8731999C>G | CA412024667 | ANOS1 | c.38G>C (p.Cys13Ser) | |
| X | g.8731999C>T | CA412024668 | ANOS1 | c.38G>A (p.Cys13Tyr) | gnomAD v4 |
| X | g.8732000A>C | CA412024669 | ANOS1 | c.37T>G (p.Cys13Gly) | |
| X | g.8732000A>G | CA412024670 | ANOS1 | c.37T>C (p.Cys13Arg) | gnomAD v4 |
| X | g.8732000A>T | CA412024671 | ANOS1 | c.37T>A (p.Cys13Ser) | |
| X | g.8732001G>A | CA515172526 | ANOS1 | c.36C>T (p.Leu12=) | |
| X | g.8732001G>C | CA515172527 | ANOS1 | c.36C>G (p.Leu12=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8732001G= | CA2414666287 | ANOS1 | c.36C= (p.Leu12=) | |
| X | g.8732001G>T | CA515172525 | ANOS1 | c.36C>A (p.Leu12=) | gnomAD v4 |
| X | g.8732002A>C | CA412024672 | ANOS1 | c.35T>G (p.Leu12Arg) | |
| X | g.8732002A>G | CA412024673 | ANOS1 | c.35T>C (p.Leu12Pro) | gnomAD v4 |
| X | g.8732002A>T | CA412024674 | ANOS1 | c.35T>A (p.Leu12His) | gnomAD v4 COSMIC |
| X | g.8732003G>A | CA412024677 | ANOS1 | c.34C>T (p.Leu12Phe) | gnomAD v4 |
| X | g.8732003G>C | CA412024676 | ANOS1 | c.34C>G (p.Leu12Val) | |
| X | g.8732003G= | CA2414666288 | ANOS1 | c.34C= (p.Leu12=) | |
| X | g.8732003G>T | CA412024675 | ANOS1 | c.34C>A (p.Leu12Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8732005del | CA2693054545 | ANOS1 | c.34del (p.Leu12SerfsTer?) | gnomAD v4 |
| X | g.8732003_8732004insT | CA16609285 | ANOS1 | c.33_34insA (p.Leu12ThrfsTer?) | ClinVar dbSNP |
| X | g.8732004G>A | CA515172528 | ANOS1 | c.33C>T (p.Thr11=) | gnomAD v4 |
| X | g.8732004G>C | CA515172530 | ANOS1 | c.33C>G (p.Thr11=) | |
| X | g.8732004G>T | CA515172529 | ANOS1 | c.33C>A (p.Thr11=) | gnomAD v4 |
| X | g.8732005G>A | CA412024678 | ANOS1 | c.32C>T (p.Thr11Ile) | gnomAD v4 |
| X | g.8732005G>C | CA412024679 | ANOS1 | c.32C>G (p.Thr11Ser) | |
| X | g.8732005G= | CA2414666289 | ANOS1 | c.32C= (p.Thr11=) | |
| X | g.8732005G>T | CA412024680 | ANOS1 | c.32C>A (p.Thr11Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8732006T>A | CA412024681 | ANOS1 | c.31A>T (p.Thr11Ser) | gnomAD v4 |
| X | g.8732006T>C | CA412024682 | ANOS1 | c.31A>G (p.Thr11Ala) | gnomAD v4 |
| X | g.8732006T>G | CA412024683 | ANOS1 | c.31A>C (p.Thr11Pro) | |
| X | g.8732007C>A | CA515172531 | ANOS1 | c.30G>T (p.Leu10=) | gnomAD v4 |
| X | g.8732007C>G | CA515172532 | ANOS1 | c.30G>C (p.Leu10=) | |
| X | g.8732007C>T | CA515172533 | ANOS1 | c.30G>A (p.Leu10=) | gnomAD v4 |
| X | g.8732008A= | CA2414666290 | ANOS1 | c.29T= (p.Leu10=) | |
| X | g.8732008A>C | CA412024684 | ANOS1 | c.29T>G (p.Leu10Arg) | gnomAD v4 |
| X | g.8732008A>G | CA412024685 | ANOS1 | c.29T>C (p.Leu10Pro) | dbSNP gnomAD v4 |
| X | g.8732008A>T | CA412024686 | ANOS1 | c.29T>A (p.Leu10Gln) | |
| X | g.8732009G>A | CA515172534 | ANOS1 | c.28C>T (p.Leu10=) | gnomAD v4 |
| X | g.8732009G>C | CA412024687 | ANOS1 | c.28C>G (p.Leu10Val) | |
| X | g.8732009G>T | CA412024688 | ANOS1 | c.28C>A (p.Leu10Met) | gnomAD v4 |
| X | g.8732009_8732018delinsGGACCGCGCC | CA2414666291 | ANOS1 | c.19_28delinsGGCGCGGTCC (p.Gly7=) | |
| X | g.8732010G>A | CA515172535 | ANOS1 | c.27C>T (p.Val9=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8732010G>C | CA515172537 | ANOS1 | c.27C>G (p.Val9=) | |
| X | g.8732010G= | CA2414666293 | ANOS1 | c.27C= (p.Val9=) | |
| X | g.8732010G>T | CA515172536 | ANOS1 | c.27C>A (p.Val9=) | gnomAD v4 |
| X | g.8732011_8732019del | CA2414666292 | ANOS1 | c.19_27del (p.Gly7_Val9del) | dbSNP |
| X | g.8732011del | CA2819624157 | ANOS1 | c.26del (p.Val9AlafsTer2) | |
| X | g.8732011A>C | CA412024691 | ANOS1 | c.26T>G (p.Val9Gly) | |
| X | g.8732011A>G | CA412024690 | ANOS1 | c.26T>C (p.Val9Ala) | gnomAD v4 |
| X | g.8732011A>T | CA412024689 | ANOS1 | c.26T>A (p.Val9Asp) | |
| X | g.8732012C>A | CA412024692 | ANOS1 | c.25G>T (p.Val9Phe) | gnomAD v4 |
| X | g.8732012C= | CA2414666295 | ANOS1 | c.25G= (p.Val9=) | |
| X | g.8732012C>G | CA412024693 | ANOS1 | c.25G>C (p.Val9Leu) | |
| X | g.8732012C>T | CA412024694 | ANOS1 | c.25G>A (p.Val9Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.8732012_8732014delinsCCG | CA2414666294 | ANOS1 | c.23_25delinsCGG (p.Ala8=) | |
| X | g.8732022_8732102del | CA2819624158 | ANOS1 | c.-56_25del |