| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.8731904G>A | CA412024418 | ANOS1 | c.133C>T (p.Gln45Ter) c.131C>T (p.Pro44Leu) | gnomAD v4 |
| X | g.8731904G>C | CA412024417 | ANOS1 | c.133C>G (p.Gln45Glu) c.131C>G (p.Pro44Arg) | |
| X | g.8731904G>T | CA412024416 | ANOS1 | c.133C>A (p.Gln45Lys) c.131C>A (p.Pro44Gln) | |
| X | g.8731905del | CA2695231215 | ANOS1 | c.133del (p.Gln45SerfsTer10) c.131del (p.Pro44GlnfsTer10) | |
| X | g.8731905G>A | CA412024420 | ANOS1 | c.132C>T (p.Val44=) c.130C>T (p.Pro44Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8731905G>C | CA412024419 | ANOS1 | c.132C>G (p.Val44=) c.130C>G (p.Pro44Ala) | |
| X | g.8731905G= | CA2414666238 | ANOS1 | c.132C= (p.Val44=) c.130C= (p.Pro44=) | |
| X | g.8731905G>T | CA412024421 | ANOS1 | c.132C>A (p.Val44=) c.130C>A (p.Pro44Thr) | gnomAD v4 |
| X | g.8731906A>C | CA412024422 | ANOS1 | c.131T>G (p.Val44Gly) c.129T>G (p.Arg43=) | gnomAD v4 |
| X | g.8731906A>G | CA412024423 | ANOS1 | c.131T>C (p.Val44Ala) c.129T>C (p.Arg43=) | gnomAD v4 |
| X | g.8731906A>T | CA412024424 | ANOS1 | c.131T>A (p.Val44Asp) c.129T>A (p.Arg43=) | |
| X | g.8731907C>A | CA412024425 | ANOS1 | c.130G>T (p.Val44Phe) c.128G>T (p.Arg43Leu) | |
| X | g.8731907C= | CA2414666239 | ANOS1 | c.130G= (p.Val44=) c.128G= (p.Arg43=) | |
| X | g.8731907C>G | CA412024426 | ANOS1 | c.130G>C (p.Val44Leu) c.128G>C (p.Arg43Pro) | |
| X | g.8731907C>T | CA412024427 | ANOS1 | c.130G>A (p.Val44Ile) c.128G>A (p.Arg43His) | ClinVar dbSNP gnomAD v4 |
| X | g.8731908G>A | CA412024428 | ANOS1 | c.129C>T (p.Ser43=) c.127C>T (p.Arg43Cys) | gnomAD v4 |
| X | g.8731908G>C | CA412024429 | ANOS1 | c.129C>G (p.Ser43Arg) c.127C>G (p.Arg43Gly) | gnomAD v4 |
| X | g.8731908G>T | CA412024430 | ANOS1 | c.129C>A (p.Ser43Arg) c.127C>A (p.Arg43Ser) | gnomAD v4 |
| X | g.8731909C>A | CA412024431 | ANOS1 | c.128G>T (p.Ser43Ile) c.126G>T (p.Glu42Asp) | |
| X | g.8731909C= | CA2414666240 | ANOS1 | c.128G= (p.Ser43=) c.126G= (p.Glu42=) | |
| X | g.8731909C>G | CA412024432 | ANOS1 | c.128G>C (p.Ser43Thr) c.126G>C (p.Glu42Asp) | gnomAD v4 |
| X | g.8731909C>T | CA412024433 | ANOS1 | c.128G>A (p.Ser43Asn) c.126G>A (p.Glu42=) | dbSNP |
| X | g.8731910T>A | CA412024436 | ANOS1 | c.127A>T (p.Ser43Cys) c.125A>T (p.Glu42Val) | |
| X | g.8731910T>C | CA412024434 | ANOS1 | c.127A>G (p.Ser43Gly) c.125A>G (p.Glu42Gly) | dbSNP |
| X | g.8731910T>G | CA412024435 | ANOS1 | c.127A>C (p.Ser43Arg) c.125A>C (p.Glu42Ala) | |
| X | g.8731911C>A | CA412024437 | ANOS1 | c.126G>T (p.Gly42=) c.124G>T (p.Glu42Ter) | |
| X | g.8731911C= | CA2414666241 | ANOS1 | c.126G= (p.Gly42=) c.124G= (p.Glu42=) | |
| X | g.8731911C>G | CA412024438 | ANOS1 | c.126G>C (p.Gly42=) c.124G>C (p.Glu42Gln) | |
| X | g.8731911C>T | CA10343861 | ANOS1 | c.126G>A (p.Gly42=) c.124G>A (p.Glu42Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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 |