Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.8731842G>A | CA515172428 | ANOS1 | c.195C>T (p.Phe65=) c.192C>T (p.Phe64=) | gnomAD v4 |
X | g.8731842G>C | CA412024274 | ANOS1 | c.195C>G (p.Phe65Leu) c.192C>G (p.Phe64Leu) | |
X | g.8731842G>T | CA412024275 | ANOS1 | c.195C>A (p.Phe65Leu) c.192C>A (p.Phe64Leu) | gnomAD v4 |
X | g.8731843A>C | CA412024276 | ANOS1 | c.194T>G (p.Phe65Cys) c.191T>G (p.Phe64Cys) | |
X | g.8731843A>G | CA412024277 | ANOS1 | c.194T>C (p.Phe65Ser) c.191T>C (p.Phe64Ser) | gnomAD v4 |
X | g.8731843A>T | CA412024278 | ANOS1 | c.194T>A (p.Phe65Tyr) c.191T>A (p.Phe64Tyr) | |
X | g.8731844A>C | CA412024279 | ANOS1 | c.193T>G (p.Phe65Val) c.190T>G (p.Phe64Val) | |
X | g.8731844A>G | CA412024280 | ANOS1 | c.193T>C (p.Phe65Leu) c.190T>C (p.Phe64Leu) | gnomAD v4 |
X | g.8731844A>T | CA412024281 | ANOS1 | c.193T>A (p.Phe65Ile) c.190T>A (p.Phe64Ile) | |
X | g.8731845G>A | CA515172429 | ANOS1 | c.192C>T (p.Phe64=) c.189C>T (p.Phe63=) | |
X | g.8731845G>C | CA412024282 | ANOS1 | c.192C>G (p.Phe64Leu) c.189C>G (p.Phe63Leu) | |
X | g.8731845G>T | CA412024283 | ANOS1 | c.192C>A (p.Phe64Leu) c.189C>A (p.Phe63Leu) | gnomAD v4 |
X | g.8731846A>C | CA412024284 | ANOS1 | c.191T>G (p.Phe64Cys) c.188T>G (p.Phe63Cys) | |
X | g.8731846A>G | CA412024285 | ANOS1 | c.191T>C (p.Phe64Ser) c.188T>C (p.Phe63Ser) | |
X | g.8731846A>T | CA412024286 | ANOS1 | c.191T>A (p.Phe64Tyr) c.188T>A (p.Phe63Tyr) | |
X | g.8731847A>C | CA412024287 | ANOS1 | c.190T>G (p.Phe64Val) c.187T>G (p.Phe63Val) | |
X | g.8731847A>G | CA412024288 | ANOS1 | c.190T>C (p.Phe64Leu) c.187T>C (p.Phe63Leu) | gnomAD v4 |
X | g.8731847A>T | CA412024289 | ANOS1 | c.190T>A (p.Phe64Ile) c.187T>A (p.Phe63Ile) | |
X | g.8731848G>A | CA515172430 | ANOS1 | c.189C>T (p.Ala63=) c.186C>T (p.Ala62=) | |
X | g.8731848G>C | CA515172431 | ANOS1 | c.189C>G (p.Ala63=) c.186C>G (p.Ala62=) | |
X | g.8731848G>T | CA515172432 | ANOS1 | c.189C>A (p.Ala63=) c.186C>A (p.Ala62=) | |
X | g.8731849G>A | CA412024290 | ANOS1 | c.188C>T (p.Ala63Val) c.185C>T (p.Ala62Val) | |
X | g.8731849G>C | CA412024291 | ANOS1 | c.188C>G (p.Ala63Gly) c.185C>G (p.Ala62Gly) | |
X | g.8731849G>T | CA412024292 | ANOS1 | c.188C>A (p.Ala63Asp) c.185C>A (p.Ala62Asp) | |
X | g.8731850C>A | CA412024293 | ANOS1 | c.187G>T (p.Ala63Ser) c.184G>T (p.Ala62Ser) | gnomAD v4 |
X | g.8731850C>G | CA412024294 | ANOS1 | c.187G>C (p.Ala63Pro) c.184G>C (p.Ala62Pro) | |
X | g.8731850C>T | CA412024295 | ANOS1 | c.187G>A (p.Ala63Thr) c.184G>A (p.Ala62Thr) | |
X | g.8731851G>A | CA515172433 | ANOS1 | c.186C>T (p.Ser62=) c.183C>T (p.Ser61=) | dbSNP |
X | g.8731851G>C | CA515172434 | ANOS1 | c.186C>G (p.Ser62=) c.183C>G (p.Ser61=) | |
X | g.8731851G= | CA2414666212 | ANOS1 | c.186C= (p.Ser62=) c.183C= (p.Ser61=) | |
X | g.8731851G>T | CA515172436 | ANOS1 | c.186C>A (p.Ser62=) c.183C>A (p.Ser61=) | |
X | g.8731852G>A | CA412024298 | ANOS1 | c.185C>T (p.Ser62Phe) c.182C>T (p.Ser61Phe) | |
X | g.8731852G>C | CA412024297 | ANOS1 | c.185C>G (p.Ser62Cys) c.182C>G (p.Ser61Cys) | gnomAD v4 |
X | g.8731852G>T | CA412024296 | ANOS1 | c.185C>A (p.Ser62Tyr) c.182C>A (p.Ser61Tyr) | gnomAD v4 |
X | g.8731853A>C | CA412024299 | ANOS1 | c.184T>G (p.Ser62Ala) c.181T>G (p.Ser61Ala) | |
X | g.8731853A>G | CA412024301 | ANOS1 | c.184T>C (p.Ser62Pro) c.181T>C (p.Ser61Pro) | gnomAD v4 |
X | g.8731853A>T | CA412024300 | ANOS1 | c.184T>A (p.Ser62Thr) c.181T>A (p.Ser61Thr) | |
X | g.8731854G>A | CA515172438 | ANOS1 | c.183C>T (p.Ile61=) c.180C>T (p.Ile60=) | gnomAD v4 |
X | g.8731854G>C | CA412024302 | ANOS1 | c.183C>G (p.Ile61Met) c.180C>G (p.Ile60Met) | |
X | g.8731854G= | CA2414666213 | ANOS1 | c.183C= (p.Ile61=) c.180C= (p.Ile60=) | |
X | g.8731854G>T | CA515172440 | ANOS1 | c.183C>A (p.Ile61=) c.180C>A (p.Ile60=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731855A>C | CA412024303 | ANOS1 | c.182T>G (p.Ile61Ser) c.179T>G (p.Ile60Ser) | |
X | g.8731855A>G | CA412024304 | ANOS1 | c.182T>C (p.Ile61Thr) c.179T>C (p.Ile60Thr) | |
X | g.8731855A>T | CA412024305 | ANOS1 | c.182T>A (p.Ile61Asn) c.179T>A (p.Ile60Asn) | |
X | g.8731856T>A | CA412024306 | ANOS1 | c.181A>T (p.Ile61Phe) c.178A>T (p.Ile60Phe) | |
X | g.8731856T>C | CA412024307 | ANOS1 | c.181A>G (p.Ile61Val) c.178A>G (p.Ile60Val) | |
X | g.8731856T>G | CA412024308 | ANOS1 | c.181A>C (p.Ile61Leu) c.178A>C (p.Ile60Leu) | |
X | g.8731859_8731869del | CA2573159631 | ANOS1 | c.171_181del (p.Gln57HisfsTer25) c.168_178del (p.Gln56HisfsTer25) | ClinVar dbSNP |
X | g.8731857G>A | CA515172441 | ANOS1 | c.180C>T (p.Arg60=) c.177C>T (p.Arg59=) | dbSNP gnomAD v4 |
X | g.8731857G>C | CA515172443 | ANOS1 | c.180C>G (p.Arg60=) c.177C>G (p.Arg59=) | |
X | g.8731857G= | CA2414666214 | ANOS1 | c.180C= (p.Arg60=) c.177C= (p.Arg59=) | |
X | g.8731857G>T | CA515172444 | ANOS1 | c.180C>A (p.Arg60=) c.177C>A (p.Arg59=) | |
X | g.8731858C>A | CA412024309 | ANOS1 | c.179G>T (p.Arg60Leu) c.176G>T (p.Arg59Leu) | gnomAD v4 |
X | g.8731858C= | CA2414666215 | ANOS1 | c.179G= (p.Arg60=) c.176G= (p.Arg59=) | |
X | g.8731858C>G | CA412024310 | ANOS1 | c.179G>C (p.Arg60Pro) c.176G>C (p.Arg59Pro) | dbSNP |
X | g.8731858C>T | CA412024311 | ANOS1 | c.179G>A (p.Arg60His) c.176G>A (p.Arg59His) | gnomAD v4 |
X | g.8731859G>A | CA412024312 | ANOS1 | c.178C>T (p.Arg60Cys) c.175C>T (p.Arg59Cys) | gnomAD v4 COSMIC |
X | g.8731859G>C | CA412024313 | ANOS1 | c.178C>G (p.Arg60Gly) c.175C>G (p.Arg59Gly) | gnomAD v4 |
X | g.8731859G>T | CA412024314 | ANOS1 | c.178C>A (p.Arg60Ser) c.175C>A (p.Arg59Ser) | gnomAD v4 |
X | g.8731860A>C | CA515172445 | ANOS1 | c.177T>G (p.Thr59=) c.174T>G (p.Thr58=) | |
X | g.8731860A>G | CA515172446 | ANOS1 | c.177T>C (p.Thr59=) c.174T>C (p.Thr58=) | gnomAD v4 |
X | g.8731860A>T | CA515172447 | ANOS1 | c.177T>A (p.Thr59=) c.174T>A (p.Thr58=) | |
X | g.8731861G>A | CA412024315 | ANOS1 | c.176C>T (p.Thr59Ile) c.173C>T (p.Thr58Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.8731861G>C | CA412024317 | ANOS1 | c.176C>G (p.Thr59Ser) c.173C>G (p.Thr58Ser) | |
X | g.8731861G= | CA2414666216 | ANOS1 | c.176C= (p.Thr59=) c.173C= (p.Thr58=) | |
X | g.8731861G>T | CA412024316 | ANOS1 | c.176C>A (p.Thr59Asn) c.173C>A (p.Thr58Asn) | |
X | g.8731862T>A | CA412024318 | ANOS1 | c.175A>T (p.Thr59Ser) c.172A>T (p.Thr58Ser) | gnomAD v4 |
X | g.8731862T>C | CA412024319 | ANOS1 | c.175A>G (p.Thr59Ala) c.172A>G (p.Thr58Ala) | |
X | g.8731862T>G | CA412024320 | ANOS1 | c.175A>C (p.Thr59Pro) c.172A>C (p.Thr58Pro) | |
X | g.8731862T= | CA2414666217 | ANOS1 | c.175A= (p.Thr59=) c.172A= (p.Thr58=) | |
X | g.8731863G>A | CA515172448 | ANOS1 | c.174C>T (p.Ile58=) c.171C>T (p.Ile57=) | |
X | g.8731863G>C | CA412024321 | ANOS1 | c.174C>G (p.Ile58Met) c.171C>G (p.Ile57Met) | |
X | g.8731863G>T | CA515172449 | ANOS1 | c.174C>A (p.Ile58=) c.171C>A (p.Ile57=) | |
X | g.8731863_8731866dup | CA1139667218 | ANOS1 | c.171_174dup (p.Thr59AspfsTer28) c.168_171dup (p.Thr58AspfsTer28) | ClinVar dbSNP |
X | g.8731864A>C | CA412024322 | ANOS1 | c.173T>G (p.Ile58Ser) c.170T>G (p.Ile57Ser) | |
X | g.8731864A>G | CA412024323 | ANOS1 | c.173T>C (p.Ile58Thr) c.170T>C (p.Ile57Thr) | |
X | g.8731864A>T | CA412024324 | ANOS1 | c.173T>A (p.Ile58Asn) c.170T>A (p.Ile57Asn) | |
X | g.8731865T>A | CA412024325 | ANOS1 | c.172A>T (p.Ile58Phe) c.169A>T (p.Ile57Phe) | |
X | g.8731865T>C | CA412024326 | ANOS1 | c.172A>G (p.Ile58Val) c.169A>G (p.Ile57Val) | gnomAD v4 |
X | g.8731865T>G | CA412024327 | ANOS1 | c.172A>C (p.Ile58Leu) c.169A>C (p.Ile57Leu) | |
X | g.8731866C>A | CA412024329 | ANOS1 | c.171G>T (p.Gln57His) c.168G>T (p.Gln56His) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8731866C= | CA2414666218 | ANOS1 | c.171G= (p.Gln57=) c.168G= (p.Gln56=) | |
X | g.8731866C>G | CA412024328 | ANOS1 | c.171G>C (p.Gln57His) c.168G>C (p.Gln56His) | gnomAD v4 |
X | g.8731866C>T | CA515172450 | ANOS1 | c.171G>A (p.Gln57=) c.168G>A (p.Gln56=) | |
X | g.8731867T>A | CA412024330 | ANOS1 | c.170A>T (p.Gln57Leu) c.167A>T (p.Gln56Leu) | |
X | g.8731867T>C | CA10343857 | ANOS1 | c.170A>G (p.Gln57Arg) c.167A>G (p.Gln56Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731867T>G | CA412024331 | ANOS1 | c.170A>C (p.Gln57Pro) c.167A>C (p.Gln56Pro) | |
X | g.8731867T= | CA2414666219 | ANOS1 | c.170A= (p.Gln57=) c.167A= (p.Gln56=) | |
X | g.8731868G>A | CA326499251 | ANOS1 | c.169C>T (p.Gln57Ter) c.166C>T (p.Gln56Ter) | dbSNP gnomAD v4 |
X | g.8731868G>C | CA412024332 | ANOS1 | c.169C>G (p.Gln57Glu) c.166C>G (p.Gln56Glu) | gnomAD v4 |
X | g.8731868G= | CA2414666220 | ANOS1 | c.169C= (p.Gln57=) c.166C= (p.Gln56=) | |
X | g.8731868G>T | CA412024333 | ANOS1 | c.169C>A (p.Gln57Lys) c.166C>A (p.Gln56Lys) | gnomAD v4 |
X | g.8731869C>A | CA515172451 | ANOS1 | c.168G>T (p.Leu56=) c.165G>T (p.Leu55=) | gnomAD v4 |
X | g.8731869C>G | CA515172452 | ANOS1 | c.168G>C (p.Leu56=) c.165G>C (p.Leu55=) | |
X | g.8731869C>T | CA515172453 | ANOS1 | c.168G>A (p.Leu56=) c.165G>A (p.Leu55=) | gnomAD v4 |
X | g.8731870A>C | CA412024334 | ANOS1 | c.167T>G (p.Leu56Arg) c.164T>G (p.Leu55Arg) | |
X | g.8731870A>G | CA412024335 | ANOS1 | c.167T>C (p.Leu56Pro) c.164T>C (p.Leu55Pro) | |
X | g.8731870A>T | CA412024336 | ANOS1 | c.167T>A (p.Leu56Gln) c.164T>A (p.Leu55Gln) | |
X | g.8731871G>A | CA515172454 | ANOS1 | c.166C>T (p.Leu56=) c.163C>T (p.Leu55=) | dbSNP |
X | g.8731871G>C | CA412024337 | ANOS1 | c.166C>G (p.Leu56Val) c.163C>G (p.Leu55Val) | gnomAD v4 |
X | g.8731871G= | CA2414666221 | ANOS1 | c.166C= (p.Leu56=) c.163C= (p.Leu55=) | |
X | g.8731871G>T | CA412024338 | ANOS1 | c.166C>A (p.Leu56Met) c.163C>A (p.Leu55Met) | gnomAD v4 |
X | g.8731872G>A | CA515172455 | ANOS1 | c.165C>T (p.Ser55=) c.162C>T (p.Ser54=) | |
X | g.8731872G>C | CA412024339 | ANOS1 | c.165C>G (p.Ser55Arg) c.162C>G (p.Ser54Arg) | |
X | g.8731872G= | CA2414666222 | ANOS1 | c.165C= (p.Ser55=) c.162C= (p.Ser54=) | |
X | g.8731872G>T | CA412024340 | ANOS1 | c.165C>A (p.Ser55Arg) c.162C>A (p.Ser54Arg) | dbSNP gnomAD v3 gnomAD v4 |
X | g.8731873C>A | CA412024342 | ANOS1 | c.164G>T (p.Ser55Ile) c.161G>T (p.Ser54Ile) | gnomAD v4 |
X | g.8731873C= | CA2414666223 | ANOS1 | c.164G= (p.Ser55=) c.161G= (p.Ser54=) | |
X | g.8731873C>G | CA412024341 | ANOS1 | c.164G>C (p.Ser55Thr) c.161G>C (p.Ser54Thr) | |
X | g.8731873C>T | CA10343858 | ANOS1 | c.164G>A (p.Ser55Asn) c.161G>A (p.Ser54Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731874T>A | CA412024343 | ANOS1 | c.163A>T (p.Ser55Cys) c.160A>T (p.Ser54Cys) | |
X | g.8731874T>C | CA412024344 | ANOS1 | c.163A>G (p.Ser55Gly) c.160A>G (p.Ser54Gly) | |
X | g.8731874T>G | CA412024345 | ANOS1 | c.163A>C (p.Ser55Arg) c.160A>C (p.Ser54Arg) | dbSNP |
X | g.8731874T= | CA2414666224 | ANOS1 | c.163A= (p.Ser55=) c.160A= (p.Ser54=) | |
X | g.8731875C>A | CA515172458 | ANOS1 | c.162G>T (p.Leu54=) c.159G>T (p.Leu53=) | gnomAD v4 |
X | g.8731875C>G | CA515172459 | ANOS1 | c.162G>C (p.Leu54=) c.159G>C (p.Leu53=) | |
X | g.8731875C>T | CA515172457 | ANOS1 | c.162G>A (p.Leu54=) c.159G>A (p.Leu53=) | |
X | g.8731875_8731876del | CA2738287826 | ANOS1 | c.161_162del (p.Leu54GlnfsTer?) c.158_159del (p.Leu53GlnfsTer?) | dbSNP |
X | g.8731876A= | CA2414666225 | ANOS1 | c.161T= (p.Leu54=) c.158T= (p.Leu53=) | |
X | g.8731876A>C | CA412024346 | ANOS1 | c.161T>G (p.Leu54Arg) c.158T>G (p.Leu53Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8731876A>G | CA412024347 | ANOS1 | c.161T>C (p.Leu54Pro) c.158T>C (p.Leu53Pro) | gnomAD v4 |
X | g.8731876A>T | CA412024348 | ANOS1 | c.161T>A (p.Leu54Gln) c.158T>A (p.Leu53Gln) | gnomAD v4 |
X | g.8731877G>A | CA515172460 | ANOS1 | c.160C>T (p.Leu54=) c.157C>T (p.Leu53=) | |
X | g.8731877G>C | CA412024349 | ANOS1 | c.160C>G (p.Leu54Val) c.157C>G (p.Leu53Val) | |
X | g.8731877G>T | CA412024350 | ANOS1 | c.160C>A (p.Leu54Met) c.157C>A (p.Leu53Met) | |
X | g.8731878G>A | CA515172461 | ANOS1 | c.159C>T (p.Cys53=) c.156C>T (p.Cys52=) | gnomAD v4 |
X | g.8731878G>C | CA412024351 | ANOS1 | c.159C>G (p.Cys53Trp) c.156C>G (p.Cys52Trp) | |
X | g.8731878G>T | CA412024352 | ANOS1 | c.159C>A (p.Cys53Ter) c.156C>A (p.Cys52Ter) | gnomAD v4 |
X | g.8731879C>A | CA412024353 | ANOS1 | c.158G>T (p.Cys53Phe) c.155G>T (p.Cys52Phe) | gnomAD v4 |
X | g.8731879C= | CA2414666226 | ANOS1 | c.158G= (p.Cys53=) c.155G= (p.Cys52=) | |
X | g.8731879C>G | CA412024354 | ANOS1 | c.158G>C (p.Cys53Ser) c.155G>C (p.Cys52Ser) | |
X | g.8731879C>T | CA412024355 | ANOS1 | c.158G>A (p.Cys53Tyr) c.155G>A (p.Cys52Tyr) | ClinVar dbSNP gnomAD v4 |
X | g.8731880A>C | CA412024357 | ANOS1 | c.157T>G (p.Cys53Gly) c.154T>G (p.Cys52Gly) | |
X | g.8731880A>G | CA412024358 | ANOS1 | c.157T>C (p.Cys53Arg) c.154T>C (p.Cys52Arg) | |
X | g.8731880A>T | CA412024356 | ANOS1 | c.157T>A (p.Cys53Ser) c.154T>A (p.Cys52Ser) | |
X | g.8731880_8731883dup | CA2695231214 | ANOS1 | c.154_157dup (p.Cys53Ter) c.151_154dup (p.Cys52Ter) | |
X | g.8731881C>A | CA412024360 | ANOS1 | c.156G>T (p.Arg52Ser) c.153G>T (p.Arg51Ser) | |
X | g.8731881C= | CA2414666227 | ANOS1 | c.156G= (p.Arg52=) c.153G= (p.Arg51=) | |
X | g.8731881C>G | CA412024359 | ANOS1 | c.156G>C (p.Arg52Ser) c.153G>C (p.Arg51Ser) | |
X | g.8731881C>T | CA515172462 | ANOS1 | c.156G>A (p.Arg52=) c.153G>A (p.Arg51=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731882C>A | CA412024361 | ANOS1 | c.155G>T (p.Arg52Met) c.152G>T (p.Arg51Met) | |
X | g.8731882C>G | CA412024362 | ANOS1 | c.155G>C (p.Arg52Thr) c.152G>C (p.Arg51Thr) | |
X | g.8731882C>T | CA412024363 | ANOS1 | c.155G>A (p.Arg52Lys) c.152G>A (p.Arg51Lys) | gnomAD v4 |
X | g.8731883T>A | CA412024364 | ANOS1 | c.154A>T (p.Arg52Trp) c.151A>T (p.Arg51Trp) | |
X | g.8731883T>C | CA412024365 | ANOS1 | c.154A>G (p.Arg52Gly) c.151A>G (p.Arg51Gly) | gnomAD v4 |
X | g.8731883T>G | CA515172464 | ANOS1 | c.154A>C (p.Arg52=) c.151A>C (p.Arg51=) | |
X | g.8731884G>A | CA515172465 | ANOS1 | c.153C>T (p.Ser51=) c.150C>T (p.Ser50=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.8731884G>C | CA515172466 | ANOS1 | c.153C>G (p.Ser51=) c.150C>G (p.Ser50=) | |
X | g.8731884G= | CA2414666228 | ANOS1 | c.153C= (p.Ser51=) c.150C= (p.Ser50=) | |
X | g.8731884G>T | CA515172467 | ANOS1 | c.153C>A (p.Ser51=) c.150C>A (p.Ser50=) | gnomAD v4 |
X | g.8731885G>A | CA412024366 | ANOS1 | c.152C>T (p.Ser51Phe) c.149C>T (p.Ser50Phe) | |
X | g.8731885G>C | CA412024367 | ANOS1 | c.152C>G (p.Ser51Cys) c.149C>G (p.Ser50Cys) | |
X | g.8731885G>T | CA412024368 | ANOS1 | c.152C>A (p.Ser51Tyr) c.149C>A (p.Ser50Tyr) | |
X | g.8731886A>C | CA412024369 | ANOS1 | c.151T>G (p.Ser51Ala) c.148T>G (p.Ser50Ala) | gnomAD v4 |
X | g.8731886A>G | CA412024370 | ANOS1 | c.151T>C (p.Ser51Pro) c.148T>C (p.Ser50Pro) | |
X | g.8731886A>T | CA412024371 | ANOS1 | c.151T>A (p.Ser51Thr) c.148T>A (p.Ser50Thr) | |
X | g.8731887G>A | CA515172468 | ANOS1 | c.150C>T (p.Ala50=) c.147C>T (p.Ala49=) | |
X | g.8731887G>C | CA10343859 | ANOS1 | c.150C>G (p.Ala50=) c.147C>G (p.Ala49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731887G= | CA2414666229 | ANOS1 | c.150C= (p.Ala50=) c.147C= (p.Ala49=) | |
X | g.8731887G>T | CA515172469 | ANOS1 | c.150C>A (p.Ala50=) c.147C>A (p.Ala49=) | gnomAD v4 |
X | g.8731888G>A | CA412024374 | ANOS1 | c.149C>T (p.Ala50Val) c.146C>T (p.Ala49Val) | |
X | g.8731888G>C | CA412024373 | ANOS1 | c.149C>G (p.Ala50Gly) c.146C>G (p.Ala49Gly) | |
X | g.8731888G>T | CA412024372 | ANOS1 | c.149C>A (p.Ala50Asp) c.146C>A (p.Ala49Asp) | |
X | g.8731889C>A | CA412024375 | ANOS1 | c.148G>T (p.Ala50Ser) c.145G>T (p.Ala49Ser) | dbSNP gnomAD v4 |
X | g.8731889C= | CA2414666230 | ANOS1 | c.148G= (p.Ala50=) c.145G= (p.Ala49=) | |
X | g.8731889C>G | CA412024376 | ANOS1 | c.148G>C (p.Ala50Pro) c.145G>C (p.Ala49Pro) | |
X | g.8731889C>T | CA412024377 | ANOS1 | c.148G>A (p.Ala50Thr) c.145G>A (p.Ala49Thr) | gnomAD v4 |
X | g.8731890G>A | CA515172470 | ANOS1 | c.147C>T (p.Cys49=) c.144C>T (p.Cys48=) | gnomAD v4 |
X | g.8731890G>C | CA412024378 | ANOS1 | c.147C>G (p.Cys49Trp) c.144C>G (p.Cys48Trp) | |
X | g.8731890G>T | CA412024379 | ANOS1 | c.147C>A (p.Cys49Ter) c.144C>A (p.Cys48Ter) | |
X | g.8731891C>A | CA412024380 | ANOS1 | c.146G>T (p.Cys49Phe) c.143G>T (p.Cys48Phe) | |
X | g.8731891C>G | CA412024381 | ANOS1 | c.146G>C (p.Cys49Ser) c.143G>C (p.Cys48Ser) | |
X | g.8731891C>T | CA412024382 | ANOS1 | c.146G>A (p.Cys49Tyr) c.143G>A (p.Cys48Tyr) | |
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=) | |
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 |
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) |