| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.8732005del | CA2693054545 | ANOS1 | c.34del (p.Leu12SerfsTer?) | gnomAD v4 |
| 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.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.8732013C>A | CA515172538 | ANOS1 | c.24G>T (p.Ala8=) | dbSNP gnomAD v4 |
| X | g.8732013C>G | CA515172539 | ANOS1 | c.24G>C (p.Ala8=) | |
| X | g.8732013C>T | CA515172540 | ANOS1 | c.24G>A (p.Ala8=) | gnomAD v4 |
| X | g.8732016_8732017del | CA913190994 | ANOS1 | c.23_24del (p.Ala8GlyfsTer?) | ClinVar dbSNP |
| X | g.8732014G>A | CA412024695 | ANOS1 | c.23C>T (p.Ala8Val) | gnomAD v4 |
| X | g.8732014G>C | CA412024696 | ANOS1 | c.23C>G (p.Ala8Gly) | |
| X | g.8732014G= | CA2414666296 | ANOS1 | c.23C= (p.Ala8=) | |
| X | g.8732014G>T | CA412024697 | ANOS1 | c.23C>A (p.Ala8Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8732015C>A | CA412024698 | ANOS1 | c.22G>T (p.Ala8Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8732015C= | CA2414666297 | ANOS1 | c.22G= (p.Ala8=) | |
| X | g.8732015C>G | CA412024699 | ANOS1 | c.22G>C (p.Ala8Pro) | gnomAD v4 |
| X | g.8732015C>T | CA412024700 | ANOS1 | c.22G>A (p.Ala8Thr) | dbSNP gnomAD v4 |
| X | g.8732016G>A | CA515172541 | ANOS1 | c.21C>T (p.Gly7=) | gnomAD v4 |
| X | g.8732016G>C | CA515172542 | ANOS1 | c.21C>G (p.Gly7=) | |
| X | g.8732016G>T | CA515172543 | ANOS1 | c.21C>A (p.Gly7=) | gnomAD v4 |