Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.8731892A= | CA2414666231 | ANOS1 | c.145T= (p.Cys49=) c.142T= (p.Cys48=) | |
X | g.8731892A>C | CA412024383 | ANOS1 | c.145T>G (p.Cys49Gly) c.142T>G (p.Cys48Gly) | |
X | g.8731892A>G | CA16609284 | ANOS1 | c.145T>C (p.Cys49Arg) c.142T>C (p.Cys48Arg) | ClinVar dbSNP |
X | g.8731892A>T | CA412024384 | ANOS1 | c.145T>A (p.Cys49Ser) c.142T>A (p.Cys48Ser) | |
X | g.8731893G>A | CA412024385 | ANOS1 | c.144C>T (p.Arg48=) c.142-1C>T (n.142-1C>T) | |
X | g.8731893G>C | CA412024386 | ANOS1 | c.144C>G (p.Arg48=) c.142-1C>G (n.142-1C>G) | |
X | g.8731893G= | CA2414666232 | ANOS1 | c.144C= (p.Arg48=) c.142-1C= (n.142-1C=) | |
X | g.8731893G>T | CA412024387 | ANOS1 | c.144C>A (p.Arg48=) c.142-1C>A (n.142-1C>A) | dbSNP |
X | g.8731894C>A | CA412024389 | ANOS1 | c.143G>T (p.Arg48Leu) c.141G>T (p.Ser47=) | |
X | g.8731894C= | CA2414666233 | ANOS1 | c.143G= (p.Arg48=) c.141G= (p.Ser47=) | |
X | g.8731894C>G | CA412024390 | ANOS1 | c.143G>C (p.Arg48Pro) c.141G>C (p.Ser47=) | |
X | g.8731894C>T | CA412024388 | ANOS1 | c.143G>A (p.Arg48His) c.141G>A (p.Ser47=) | dbSNP gnomAD v4 |
X | g.8731895G>A | CA412024391 | ANOS1 | c.142C>T (p.Arg48Cys) c.140C>T (p.Ser47Leu) | gnomAD v4 COSMIC |
X | g.8731895G>C | CA412024392 | ANOS1 | c.142C>G (p.Arg48Gly) c.140C>G (p.Ser47Trp) | |
X | g.8731895G>T | CA412024393 | ANOS1 | c.142C>A (p.Arg48Ser) c.140C>A (p.Ser47Ter) | gnomAD v4 |
X | g.8731896A>C | CA412024394 | ANOS1 | c.141T>G (p.Ala47=) c.139T>G (p.Ser47Ala) | |
X | g.8731896A>G | CA412024395 | ANOS1 | c.141T>C (p.Ala47=) c.139T>C (p.Ser47Pro) | |
X | g.8731896A>T | CA412024396 | ANOS1 | c.141T>A (p.Ala47=) c.139T>A (p.Ser47Thr) | |
X | g.8731897G>A | CA412024397 | ANOS1 | c.140C>T (p.Ala47Val) c.138C>T (p.Arg46=) | gnomAD v4 |
X | g.8731897G>C | CA412024398 | ANOS1 | c.140C>G (p.Ala47Gly) c.138C>G (p.Arg46=) | |
X | g.8731897G>T | CA412024399 | ANOS1 | c.140C>A (p.Ala47Asp) c.138C>A (p.Arg46=) | gnomAD v4 |
X | g.8731898C>A | CA412024400 | ANOS1 | c.139G>T (p.Ala47Ser) c.137G>T (p.Arg46Leu) | ClinVar |
X | g.8731898C= | CA2414666234 | ANOS1 | c.139G= (p.Ala47=) c.137G= (p.Arg46=) | |
X | g.8731898C>G | CA412024401 | ANOS1 | c.139G>C (p.Ala47Pro) c.137G>C (p.Arg46Pro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8731898C>T | CA412024402 | ANOS1 | c.139G>A (p.Ala47Thr) c.137G>A (p.Arg46His) | gnomAD v4 |
X | g.8731899G>A | CA10343860 | ANOS1 | c.138C>T (p.Arg46=) c.136C>T (p.Arg46Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731899G>C | CA412024403 | ANOS1 | c.138C>G (p.Arg46=) c.136C>G (p.Arg46Gly) | |
X | g.8731899G= | CA2414666235 | ANOS1 | c.138C= (p.Arg46=) c.136C= (p.Arg46=) | |
X | g.8731899G>T | CA412024404 | ANOS1 | c.138C>A (p.Arg46=) c.136C>A (p.Arg46Ser) | gnomAD v4 |
X | g.8731900C>A | CA412024405 | ANOS1 | c.137G>T (p.Arg46Leu) c.135G>T (p.Ala45=) | |
X | g.8731900C>G | CA412024406 | ANOS1 | c.137G>C (p.Arg46Pro) c.135G>C (p.Ala45=) | |
X | g.8731900C>T | CA412024407 | ANOS1 | c.137G>A (p.Arg46His) c.135G>A (p.Ala45=) | |
X | g.8731901G>A | CA412024408 | ANOS1 | c.136C>T (p.Arg46Cys) c.134C>T (p.Ala45Val) | gnomAD v4 |
X | g.8731901G>C | CA412024409 | ANOS1 | c.136C>G (p.Arg46Gly) c.134C>G (p.Ala45Gly) | |
X | g.8731901G= | CA2414666236 | ANOS1 | c.136C= (p.Arg46=) c.134C= (p.Ala45=) | |
X | g.8731901G>T | CA326499252 | ANOS1 | c.136C>A (p.Arg46Ser) c.134C>A (p.Ala45Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731902C>A | CA412024410 | ANOS1 | c.135G>T (p.Gln45His) c.133G>T (p.Ala45Ser) | |
X | g.8731902C= | CA2414666237 | ANOS1 | c.135G= (p.Gln45=) c.133G= (p.Ala45=) | |
X | g.8731902C>G | CA412024411 | ANOS1 | c.135G>C (p.Gln45His) c.133G>C (p.Ala45Pro) | dbSNP gnomAD v4 |
X | g.8731902C>T | CA412024412 | ANOS1 | c.135G>A (p.Gln45=) c.133G>A (p.Ala45Thr) | |
X | g.8731903T>A | CA412024413 | ANOS1 | c.134A>T (p.Gln45Leu) c.132A>T (p.Pro44=) | |
X | g.8731903T>C | CA412024414 | ANOS1 | c.134A>G (p.Gln45Arg) c.132A>G (p.Pro44=) | gnomAD v4 |
X | g.8731903T>G | CA412024415 | ANOS1 | c.134A>C (p.Gln45Pro) c.132A>C (p.Pro44=) | |
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=) |