| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.8731933_8731961del | CA2819624156 | ANOS1 | c.78_106del (p.Pro27ArgfsTer?) c.77_104del | |
| X | g.8731940_8731968del | CA2693054540 | ANOS1 | c.75_103del (p.Pro27ArgfsTer?) c.74_101del | 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.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.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 | |
| 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 |
| X | g.8732017C>A | CA10343873 | ANOS1 | c.20G>T (p.Gly7Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.8732017C= | CA2414666298 | ANOS1 | c.20G= (p.Gly7=) | |
| X | g.8732017C>G | CA412024701 | ANOS1 | c.20G>C (p.Gly7Ala) | |
| X | g.8732017C>T | CA412024702 | ANOS1 | c.20G>A (p.Gly7Asp) | gnomAD v4 |
| X | g.8732026_8732034dup | CA2579546931 | ANOS1 | c.12_20dup (p.Gly7_Ala8insValProGly) | gnomAD v4 |
| X | g.8732026_8732034del | CA2579546930 | ANOS1 | c.12_20del (p.Val5_Gly7del) | |
| X | g.8732018C>A | CA412024705 | ANOS1 | c.19G>T (p.Gly7Cys) | gnomAD v4 |
| X | g.8732018C= | CA2414666299 | ANOS1 | c.19G= (p.Gly7=) | |
| X | g.8732018C>G | CA412024704 | ANOS1 | c.19G>C (p.Gly7Arg) | |
| X | g.8732018C>T | CA412024703 | ANOS1 | c.19G>A (p.Gly7Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8732019G>A | CA515172546 | ANOS1 | c.18C>T (p.Pro6=) | gnomAD v4 |
| X | g.8732019G>C | CA515172544 | ANOS1 | c.18C>G (p.Pro6=) | |
| X | g.8732019G>T | CA515172545 | ANOS1 | c.18C>A (p.Pro6=) | gnomAD v4 |
| X | g.8732021del | CA2693054546 | ANOS1 | c.18del (p.Gly7AlafsTer4) | gnomAD v4 |
| X | g.8732020G>A | CA412024706 | ANOS1 | c.17C>T (p.Pro6Leu) | gnomAD v4 |
| X | g.8732020G>C | CA412024707 | ANOS1 | c.17C>G (p.Pro6Arg) | |
| X | g.8732020G>T | CA412024708 | ANOS1 | c.17C>A (p.Pro6His) | gnomAD v4 |
| X | g.8732021G>A | CA412024709 | ANOS1 | c.16C>T (p.Pro6Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8732021G>C | CA412024710 | ANOS1 | c.16C>G (p.Pro6Ala) | gnomAD v4 |
| X | g.8732021G= | CA2414666300 | ANOS1 | c.16C= (p.Pro6=) | |
| X | g.8732021G>T | CA412024711 | ANOS1 | c.16C>A (p.Pro6Thr) | gnomAD v4 |
| X | g.8732022C>A | CA10343874 | ANOS1 | c.15G>T (p.Val5=) | dbSNP ExAC gnomAD v4 |
| X | g.8732022C= | CA2414666301 | ANOS1 | c.15G= (p.Val5=) | |
| X | g.8732022C>G | CA515172547 | ANOS1 | c.15G>C (p.Val5=) | |
| X | g.8732022C>T | CA515172548 | ANOS1 | c.15G>A (p.Val5=) | gnomAD v4 |
| X | g.8732023A= | CA2414666303 | ANOS1 | c.14T= (p.Val5=) | |
| X | g.8732023A>C | CA412024712 | ANOS1 | c.14T>G (p.Val5Gly) | |
| X | g.8732023A>G | CA412024713 | ANOS1 | c.14T>C (p.Val5Ala) | gnomAD v4 |
| X | g.8732023A>T | CA412024714 | ANOS1 | c.14T>A (p.Val5Glu) | dbSNP |
| X | g.8732023_8732024delinsAC | CA2414666302 | ANOS1 | c.13_14delinsGT (p.Val5=) | |
| X | g.8732024C>A | CA412024715 | ANOS1 | c.13G>T (p.Val5Leu) | gnomAD v4 |
| X | g.8732024C= | CA2414666304 | ANOS1 | c.13G= (p.Val5=) | |
| X | g.8732024C>G | CA412024716 | ANOS1 | c.13G>C (p.Val5Leu) | |
| X | g.8732024C>T | CA326499258 | ANOS1 | c.13G>A (p.Val5Met) | dbSNP gnomAD v4 |
| X | g.8732027del | CA640857318 | ANOS1 | c.13del (p.Val5CysfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8732025_8732074del | CA2819624159 | ANOS1 | c.-37_13del | |
| X | g.8732025C>A | CA515172549 | ANOS1 | c.12G>T (p.Gly4=) | gnomAD v4 |
| X | g.8732025C= | CA2414666305 | ANOS1 | c.12G= (p.Gly4=) | |
| X | g.8732025C>G | CA515172550 | ANOS1 | c.12G>C (p.Gly4=) | |
| X | g.8732025C>T | CA515172551 | ANOS1 | c.12G>A (p.Gly4=) | dbSNP gnomAD v4 |
| X | g.8732026C>A | CA412024718 | ANOS1 | c.11G>T (p.Gly4Val) | gnomAD v4 |
| X | g.8732026C= | CA2414666306 | ANOS1 | c.11G= (p.Gly4=) | |
| X | g.8732026C>G | CA412024719 | ANOS1 | c.11G>C (p.Gly4Ala) | |
| X | g.8732026C>T | CA412024717 | ANOS1 | c.11G>A (p.Gly4Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8732027C>A | CA412024721 | ANOS1 | c.10G>T (p.Gly4Trp) | gnomAD v4 |
| X | g.8732027C>G | CA412024720 | ANOS1 | c.10G>C (p.Gly4Arg) | gnomAD v4 |
| X | g.8732027C>T | CA412024722 | ANOS1 | c.10G>A (p.Gly4Arg) | gnomAD v4 |
| X | g.8732028G>A | CA515172552 | ANOS1 | c.9C>T (p.Pro3=) | gnomAD v4 |
| X | g.8732028G>C | CA515172553 | ANOS1 | c.9C>G (p.Pro3=) | gnomAD v4 |
| X | g.8732028G>T | CA515172554 | ANOS1 | c.9C>A (p.Pro3=) | gnomAD v4 |
| X | g.8732030del | CA2693054548 | ANOS1 | c.9del (p.Val5CysfsTer6) | gnomAD v4 |
| X | g.8732029_8732030del | CA2693054547 | ANOS1 | c.8_9del (p.Pro3ArgfsTer?) | gnomAD v4 |
| X | g.8732029G>A | CA412024723 | ANOS1 | c.8C>T (p.Pro3Leu) | gnomAD v4 |
| X | g.8732029G>C | CA412024724 | ANOS1 | c.8C>G (p.Pro3Arg) | |
| X | g.8732029G>T | CA412024725 | ANOS1 | c.8C>A (p.Pro3His) | |
| X | g.8732030G>A | CA412024726 | ANOS1 | c.7C>T (p.Pro3Ser) | gnomAD v4 |
| X | g.8732030G>C | CA412024727 | ANOS1 | c.7C>G (p.Pro3Ala) | |
| X | g.8732030G= | CA2414666307 | ANOS1 | c.7C= (p.Pro3=) | |
| X | g.8732030G>T | CA412024728 | ANOS1 | c.7C>A (p.Pro3Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8732031C>A | CA515172555 | ANOS1 | c.6G>T (p.Val2=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8732031C= | CA2414666308 | ANOS1 | c.6G= (p.Val2=) | |
| X | g.8732031C>G | CA515172556 | ANOS1 | c.6G>C (p.Val2=) | |
| X | g.8732031C>T | CA515172557 | ANOS1 | c.6G>A (p.Val2=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8732032A>C | CA412024729 | ANOS1 | c.5T>G (p.Val2Gly) | |
| X | g.8732032A>G | CA412024730 | ANOS1 | c.5T>C (p.Val2Ala) | |
| X | g.8732032A>T | CA412024731 | ANOS1 | c.5T>A (p.Val2Glu) | gnomAD v4 |
| X | g.8732033C>A | CA412024732 | ANOS1 | c.4G>T (p.Val2Leu) | gnomAD v4 |
| X | g.8732033C>G | CA412024733 | ANOS1 | c.4G>C (p.Val2Leu) | |
| X | g.8732033C>T | CA412024734 | ANOS1 | c.4G>A (p.Val2Met) | gnomAD v4 |
| X | g.8732034C>A | CA412024737 | ANOS1 | c.3G>T (p.Met1Ile) | gnomAD v4 |
| X | g.8732034C= | CA2414666309 | ANOS1 | c.3G= (p.Met1=) | |
| X | g.8732034C>G | CA412024736 | ANOS1 | c.3G>C (p.Met1Ile) | |
| X | g.8732034C>T | CA412024735 | ANOS1 | c.3G>A (p.Met1Ile) | ClinVar dbSNP |
| X | g.8732035A>C | CA412024738 | ANOS1 | c.2T>G (p.Met1Arg) | |
| X | g.8732035A>G | CA412024739 | ANOS1 | c.2T>C (p.Met1Thr) | gnomAD v4 |
| X | g.8732035A>T | CA412024740 | ANOS1 | c.2T>A (p.Met1Lys) | |
| X | g.8732036T>A | CA412024741 | ANOS1 | c.1A>T (p.Met1Leu) | ClinVar dbSNP |
| X | g.8732036T>C | CA270002 | ANOS1 | c.1A>G (p.Met1Val) | ClinVar dbSNP gnomAD v4 |
| X | g.8732036T>G | CA412024742 | ANOS1 | c.1A>C (p.Met1Leu) | |
| X | g.8732036T= | CA2414666310 | ANOS1 | c.1A= (p.Met1=) | |
| X | g.8732037G>A | CA2579546932 | ANOS1 | c.-1C>T (n.-1C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8732038G>A | CA326499259 | ANOS1 | c.-2C>T (n.-2C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8732038G= | CA2414666311 | ANOS1 | c.-2C= (n.-2C=) | |
| X | g.8732038G>T | CA2693054549 | ANOS1 | c.-2C>A (n.-2C>A) | gnomAD v4 |
| X | g.8732039C>A | CA640857319 | ANOS1 | c.-3G>T (n.-3G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8732039C= | CA2414666312 | ANOS1 | c.-3G= (n.-3G=) | |
| X | g.8732039C>T | CA2414666313 | ANOS1 | c.-3G>A (n.-3G>A) | dbSNP gnomAD v4 |
| X | g.8732040T>C | CA2693054550 | ANOS1 | c.-4A>G (n.-4A>G) | gnomAD v4 |
| X | g.8732041G>A | CA2693054551 | ANOS1 | c.-5C>T (n.-5C>T) | gnomAD v4 |
| X | g.8732041G>T | CA2693054552 | ANOS1 | c.-5C>A (n.-5C>A) | gnomAD v4 |
| X | g.8732042C>A | CA2693054553 | ANOS1 | c.-6G>T (n.-6G>T) | gnomAD v4 |
| X | g.8732042C= | CA2414666314 | ANOS1 | c.-6G= (n.-6G=) | |
| X | g.8732042C>T | CA2693054554 | ANOS1 | c.-6G>A (n.-6G>A) | gnomAD v4 |
| X | g.8732043G>A | CA640857320 | ANOS1 | c.-7C>T (n.-7C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8732043G>C | CA2693054555 | ANOS1 | c.-7C>G (n.-7C>G) | gnomAD v4 |
| X | g.8732043G= | CA2414666317 | ANOS1 | c.-7C= (n.-7C=) | |
| X | g.8732043G>T | CA2693054556 | ANOS1 | c.-7C>A (n.-7C>A) | gnomAD v4 |
| X | g.8732043_8732049delinsGGGTCGA | CA2414666316 | ANOS1 | c.-13_-7delinsTCGACCC (n.-13_-7delinsTCGACCC) | |
| X | g.8732043_8732054dup | CA2414666315 | ANOS1 | c.-18_-7dup (n.-18_-7dup) | dbSNP |
| X | g.8732044G>A | CA2693054557 | ANOS1 | c.-8C>T (n.-8C>T) | gnomAD v4 |
| X | g.8732044G>T | CA2693054558 | ANOS1 | c.-8C>A (n.-8C>A) | gnomAD v4 |
| X | g.8732046_8732051dup | CA879237146 | ANOS1 | c.-13_-8dup (n.-13_-8dup) | dbSNP gnomAD v4 |
| X | g.8732046_8732051del | CA879237148 | ANOS1 | c.-13_-8del (n.-13_-8del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8732045G>A | CA640857321 | ANOS1 | c.-9C>T (n.-9C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8732045G= | CA2414666318 | ANOS1 | c.-9C= (n.-9C=) | |
| X | g.8732046T>C | CA2414666319 | ANOS1 | c.-10A>G (n.-10A>G) | dbSNP gnomAD v4 |
| X | g.8732046T>G | CA879237150 | ANOS1 | c.-10A>C (n.-10A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8732046T= | CA2414666320 | ANOS1 | c.-10A= (n.-10A=) | |
| X | g.8732046_8732052delinsTCGAGGG | CA2414666321 | ANOS1 | c.-16_-10delinsCCCTCGA (n.-16_-10delinsCCCTCGA) | |
| X | g.8732047C>A | CA2693054560 | ANOS1 | c.-11G>T (n.-11G>T) | gnomAD v4 |
| X | g.8732047C>T | CA2819624160 | ANOS1 | c.-11G>A (n.-11G>A) | |
| X | g.8732061_8732066dup | CA640857323 | ANOS1 | c.-16_-11dup (n.-16_-11dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8732061_8732066del | CA640857322 | ANOS1 | c.-16_-11del (n.-16_-11del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.8732055_8732066del | CA2693054559 | ANOS1 | c.-22_-11del (n.-22_-11del) | gnomAD v4 |
| X | g.8732048G>A | CA640857324 | ANOS1 | c.-12C>T (n.-12C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.8732048G= | CA2414666322 | ANOS1 | c.-12C= (n.-12C=) | |
| X | g.8732048G>T | CA2693054561 | ANOS1 | c.-12C>A (n.-12C>A) | gnomAD v4 |
| X | g.8732049del | CA2542140517 | ANOS1 | c.-13del (n.-13del) | |
| X | g.8732049A>G | CA2819624161 | ANOS1 | c.-13T>C (n.-13T>C) | |
| X | g.8732050G>A | CA2693054562 | ANOS1 | c.-14C>T (n.-14C>T) | gnomAD v4 |
| X | g.8732050G>C | CA879237161 | ANOS1 | c.-14C>G (n.-14C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.8732050G= | CA2414666323 | ANOS1 | c.-14C= (n.-14C=) | |
| X | g.8732050G>T | CA2693054563 | ANOS1 | c.-14C>A (n.-14C>A) | gnomAD v4 |
| X | g.8732051G>A | CA2693054564 | ANOS1 | c.-15C>T (n.-15C>T) | gnomAD v4 |
| X | g.8732051G>T | CA2693054565 | ANOS1 | c.-15C>A (n.-15C>A) | gnomAD v4 |
| X | g.8732053_8732057del | CA2522847286 | ANOS1 | c.-19_-15del (n.-19_-15del) |