Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.8731770del | CA2819624151 | ANOS1 | c.207+63del (n.207+63del) c.204+63del (n.204+63del) | |
X | g.8731769C>A | CA2693054481 | ANOS1 | c.207+61G>T (n.207+61G>T) c.204+61G>T (n.204+61G>T) | gnomAD v4 |
X | g.8731769C>T | CA2693054482 | ANOS1 | c.207+61G>A (n.207+61G>A) c.204+61G>A (n.204+61G>A) | gnomAD v4 |
X | g.8731770C>A | CA2693054483 | ANOS1 | c.207+60G>T (n.207+60G>T) c.204+60G>T (n.204+60G>T) | gnomAD v4 |
X | g.8731770C>G | CA2693054484 | ANOS1 | c.207+60G>C (n.207+60G>C) c.204+60G>C (n.204+60G>C) | gnomAD v4 |
X | g.8731770C>T | CA2693054485 | ANOS1 | c.207+60G>A (n.207+60G>A) c.204+60G>A (n.204+60G>A) | gnomAD v4 |
X | g.8731771G>A | CA2693054486 | ANOS1 | c.207+59C>T (n.207+59C>T) c.204+59C>T (n.204+59C>T) | gnomAD v4 |
X | g.8731771G>C | CA2693054487 | ANOS1 | c.207+59C>G (n.207+59C>G) c.204+59C>G (n.204+59C>G) | gnomAD v4 |
X | g.8731771G>T | CA2693054488 | ANOS1 | c.207+59C>A (n.207+59C>A) c.204+59C>A (n.204+59C>A) | gnomAD v4 |
X | g.8731772G>A | CA326499248 | ANOS1 | c.207+58C>T (n.207+58C>T) c.204+58C>T (n.204+58C>T) | dbSNP gnomAD v4 |
X | g.8731772G= | CA2414666179 | ANOS1 | c.207+58C= (n.207+58C=) c.204+58C= (n.204+58C=) | |
X | g.8731774G>A | CA2693054489 | ANOS1 | c.207+56C>T (n.207+56C>T) c.204+56C>T (n.204+56C>T) | gnomAD v4 |
X | g.8731775C>A | CA2693054490 | ANOS1 | c.207+55G>T (n.207+55G>T) c.204+55G>T (n.204+55G>T) | gnomAD v4 |
X | g.8731775C>T | CA2693054491 | ANOS1 | c.207+55G>A (n.207+55G>A) c.204+55G>A (n.204+55G>A) | gnomAD v4 |
X | g.8731776G>A | CA2693054492 | ANOS1 | c.207+54C>T (n.207+54C>T) c.204+54C>T (n.204+54C>T) | gnomAD v4 |
X | g.8731777C>A | CA2693054493 | ANOS1 | c.207+53G>T (n.207+53G>T) c.204+53G>T (n.204+53G>T) | gnomAD v4 |
X | g.8731777C= | CA2414666180 | ANOS1 | c.207+53G= (n.207+53G=) c.204+53G= (n.204+53G=) | |
X | g.8731777C>T | CA879236477 | ANOS1 | c.207+53G>A (n.207+53G>A) c.204+53G>A (n.204+53G>A) | dbSNP gnomAD v4 |
X | g.8731778C>A | CA2693054494 | ANOS1 | c.207+52G>T (n.207+52G>T) c.204+52G>T (n.204+52G>T) | gnomAD v4 |
X | g.8731778C= | CA2414666181 | ANOS1 | c.207+52G= (n.207+52G=) c.204+52G= (n.204+52G=) | |
X | g.8731778C>T | CA640857311 | ANOS1 | c.207+52G>A (n.207+52G>A) c.204+52G>A (n.204+52G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731779C>A | CA2693054495 | ANOS1 | c.207+51G>T (n.207+51G>T) c.204+51G>T (n.204+51G>T) | gnomAD v4 |
X | g.8731779C= | CA2414666182 | ANOS1 | c.207+51G= (n.207+51G=) c.204+51G= (n.204+51G=) | |
X | g.8731779C>T | CA2414666183 | ANOS1 | c.207+51G>A (n.207+51G>A) c.204+51G>A (n.204+51G>A) | dbSNP |
X | g.8731780A>C | CA2819624152 | ANOS1 | c.207+50T>G (n.207+50T>G) c.204+50T>G (n.204+50T>G) | |
X | g.8731781C>T | CA2579546925 | ANOS1 | c.207+49G>A (n.207+49G>A) c.204+49G>A (n.204+49G>A) | gnomAD v4 |
X | g.8731782G>A | CA2693054496 | ANOS1 | c.207+48C>T (n.207+48C>T) c.204+48C>T (n.204+48C>T) | gnomAD v4 |
X | g.8731783C>A | CA2693054497 | ANOS1 | c.207+47G>T (n.207+47G>T) c.204+47G>T (n.204+47G>T) | gnomAD v4 |
X | g.8731783C>T | CA2693054498 | ANOS1 | c.207+47G>A (n.207+47G>A) c.204+47G>A (n.204+47G>A) | gnomAD v4 |
X | g.8731784C>A | CA2693054500 | ANOS1 | c.207+46G>T (n.207+46G>T) c.204+46G>T (n.204+46G>T) | gnomAD v4 |
X | g.8731784C>T | CA2693054499 | ANOS1 | c.207+46G>A (n.207+46G>A) c.204+46G>A (n.204+46G>A) | gnomAD v4 |
X | g.8731785G>A | CA2693054501 | ANOS1 | c.207+45C>T (n.207+45C>T) c.204+45C>T (n.204+45C>T) | gnomAD v4 |
X | g.8731786C>A | CA640857312 | ANOS1 | c.207+44G>T (n.207+44G>T) c.204+44G>T (n.204+44G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731786C= | CA2414666184 | ANOS1 | c.207+44G= (n.207+44G=) c.204+44G= (n.204+44G=) | |
X | g.8731786C>T | CA2693054502 | ANOS1 | c.207+44G>A (n.207+44G>A) c.204+44G>A (n.204+44G>A) | gnomAD v4 |
X | g.8731787G>T | CA2693054503 | ANOS1 | c.207+43C>A (n.207+43C>A) c.204+43C>A (n.204+43C>A) | gnomAD v4 |
X | g.8731788G>A | CA2693054504 | ANOS1 | c.207+42C>T (n.207+42C>T) c.204+42C>T (n.204+42C>T) | gnomAD v4 |
X | g.8731789C>A | CA2693054505 | ANOS1 | c.207+41G>T (n.207+41G>T) c.204+41G>T (n.204+41G>T) | gnomAD v4 |
X | g.8731789C>T | CA2693054506 | ANOS1 | c.207+41G>A (n.207+41G>A) c.204+41G>A (n.204+41G>A) | gnomAD v4 |
X | g.8731790C>A | CA2693054507 | ANOS1 | c.207+40G>T (n.207+40G>T) c.204+40G>T (n.204+40G>T) | gnomAD v4 |
X | g.8731790C= | CA2414666185 | ANOS1 | c.207+40G= (n.207+40G=) c.204+40G= (n.204+40G=) | |
X | g.8731790C>T | CA879236480 | ANOS1 | c.207+40G>A (n.207+40G>A) c.204+40G>A (n.204+40G>A) | dbSNP gnomAD v4 |
X | g.8731791G>A | CA2693054508 | ANOS1 | c.207+39C>T (n.207+39C>T) c.204+39C>T (n.204+39C>T) | gnomAD v4 |
X | g.8731791G>T | CA2693054509 | ANOS1 | c.207+39C>A (n.207+39C>A) c.204+39C>A (n.204+39C>A) | gnomAD v4 |
X | g.8731791_8731792delinsGC | CA2414666186 | ANOS1 | c.207+38_207+39delinsGC (n.207+38_207+39delinsGC) c.204+38_204+39delinsGC (n.204+38_204+39delinsGC) | |
X | g.8731792del | CA10343851 | ANOS1 | c.207+38del (n.207+38del) c.204+38del (n.204+38del) | dbSNP ExAC gnomAD v2 |
X | g.8731792C>A | CA879236485 | ANOS1 | c.207+38G>T (n.207+38G>T) c.204+38G>T (n.204+38G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.8731792C= | CA2414666187 | ANOS1 | c.207+38G= (n.207+38G=) c.204+38G= (n.204+38G=) | |
X | g.8731792C>T | CA2819624153 | ANOS1 | c.207+38G>A (n.207+38G>A) c.204+38G>A (n.204+38G>A) | |
X | g.8731793A>G | CA2571607035 | ANOS1 | c.207+37T>C (n.207+37T>C) c.204+37T>C (n.204+37T>C) | gnomAD v4 |
X | g.8731794G>A | CA10343852 | ANOS1 | c.207+36C>T (n.207+36C>T) c.204+36C>T (n.204+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.8731794G= | CA2414666188 | ANOS1 | c.207+36C= (n.207+36C=) c.204+36C= (n.204+36C=) | |
X | g.8731795C>A | CA2693054511 | ANOS1 | c.207+35G>T (n.207+35G>T) c.204+35G>T (n.204+35G>T) | gnomAD v4 |
X | g.8731795C>T | CA2693054510 | ANOS1 | c.207+35G>A (n.207+35G>A) c.204+35G>A (n.204+35G>A) | gnomAD v4 |
X | g.8731798dup | CA2838847154 | ANOS1 | c.207+35dup (n.207+35dup) c.204+35dup (n.204+35dup) | |
X | g.8731796C>A | CA2693054512 | ANOS1 | c.207+34G>T (n.207+34G>T) c.204+34G>T (n.204+34G>T) | gnomAD v4 |
X | g.8731796C= | CA2414666189 | ANOS1 | c.207+34G= (n.207+34G=) c.204+34G= (n.204+34G=) | |
X | g.8731796C>G | CA2414666190 | ANOS1 | c.207+34G>C (n.207+34G>C) c.204+34G>C (n.204+34G>C) | dbSNP |
X | g.8731796C>T | CA326499249 | ANOS1 | c.207+34G>A (n.207+34G>A) c.204+34G>A (n.204+34G>A) | dbSNP |
X | g.8731797C>A | CA2693054513 | ANOS1 | c.207+33G>T (n.207+33G>T) c.204+33G>T (n.204+33G>T) | gnomAD v4 |
X | g.8731798C>A | CA2693054514 | ANOS1 | c.207+32G>T (n.207+32G>T) c.204+32G>T (n.204+32G>T) | gnomAD v4 |
X | g.8731799A>G | CA2693054515 | ANOS1 | c.207+31T>C (n.207+31T>C) c.204+31T>C (n.204+31T>C) | gnomAD v4 |
X | g.8731800G>A | CA10343853 | ANOS1 | c.207+30C>T (n.207+30C>T) c.204+30C>T (n.204+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731800G= | CA2414666191 | ANOS1 | c.207+30C= (n.207+30C=) c.204+30C= (n.204+30C=) | |
X | g.8731801A= | CA2414666192 | ANOS1 | c.207+29T= (n.207+29T=) c.204+29T= (n.204+29T=) | |
X | g.8731801A>G | CA2414666193 | ANOS1 | c.207+29T>C (n.207+29T>C) c.204+29T>C (n.204+29T>C) | dbSNP gnomAD v4 |
X | g.8731802A= | CA2414666194 | ANOS1 | c.207+28T= (n.207+28T=) c.204+28T= (n.204+28T=) | |
X | g.8731802A>G | CA640857313 | ANOS1 | c.207+28T>C (n.207+28T>C) c.204+28T>C (n.204+28T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731803A>G | CA2514474505 | ANOS1 | c.207+27T>C (n.207+27T>C) c.204+27T>C (n.204+27T>C) | gnomAD v4 |
X | g.8731804G>T | CA2693054516 | ANOS1 | c.207+26C>A (n.207+26C>A) c.204+26C>A (n.204+26C>A) | gnomAD v4 |
X | g.8731806A>C | CA2819624154 | ANOS1 | c.207+24T>G (n.207+24T>G) c.204+24T>G (n.204+24T>G) | |
X | g.8731806A>G | CA2693054517 | ANOS1 | c.207+24T>C (n.207+24T>C) c.204+24T>C (n.204+24T>C) | gnomAD v4 |
X | g.8731807C>A | CA640857314 | ANOS1 | c.207+23G>T (n.207+23G>T) c.204+23G>T (n.204+23G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8731807C= | CA2414666195 | ANOS1 | c.207+23G= (n.207+23G=) c.204+23G= (n.204+23G=) | |
X | g.8731807C>T | CA2693054518 | ANOS1 | c.207+23G>A (n.207+23G>A) c.204+23G>A (n.204+23G>A) | gnomAD v4 |
X | g.8731808C>G | CA1130929405 | ANOS1 | c.207+22G>C (n.207+22G>C) c.204+22G>C (n.204+22G>C) | gnomAD v3 gnomAD v4 |
X | g.8731808C>T | CA2693054519 | ANOS1 | c.207+22G>A (n.207+22G>A) c.204+22G>A (n.204+22G>A) | gnomAD v4 |
X | g.8731809C>A | CA2693054520 | ANOS1 | c.207+21G>T (n.207+21G>T) c.204+21G>T (n.204+21G>T) | gnomAD v4 |
X | g.8731809C>T | CA2693054521 | ANOS1 | c.207+21G>A (n.207+21G>A) c.204+21G>A (n.204+21G>A) | gnomAD v4 |
X | g.8731810G>A | CA2579546926 | ANOS1 | c.207+20C>T (n.207+20C>T) c.204+20C>T (n.204+20C>T) | gnomAD v4 |
X | g.8731810G= | CA2414666196 | ANOS1 | c.207+20C= (n.207+20C=) c.204+20C= (n.204+20C=) | |
X | g.8731810G>T | CA640857315 | ANOS1 | c.207+20C>A (n.207+20C>A) c.204+20C>A (n.204+20C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8731811G>A | CA2579546927 | ANOS1 | c.207+19C>T (n.207+19C>T) c.204+19C>T (n.204+19C>T) | gnomAD v4 |
X | g.8731812G>A | CA326499250 | ANOS1 | c.207+18C>T (n.207+18C>T) c.204+18C>T (n.204+18C>T) | dbSNP gnomAD v4 |
X | g.8731812G= | CA2414666197 | ANOS1 | c.207+18C= (n.207+18C=) c.204+18C= (n.204+18C=) | |
X | g.8731813C>A | CA10343855 | ANOS1 | c.207+17G>T (n.207+17G>T) c.204+17G>T (n.204+17G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731813C= | CA2414666198 | ANOS1 | c.207+17G= (n.207+17G=) c.204+17G= (n.204+17G=) | |
X | g.8731813C>T | CA10343854 | ANOS1 | c.207+17G>A (n.207+17G>A) c.204+17G>A (n.204+17G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.8731813_8731814delinsCG | CA2414666199 | ANOS1 | c.207+16_207+17delinsCG (n.207+16_207+17delinsCG) c.204+16_204+17delinsCG (n.204+16_204+17delinsCG) | |
X | g.8731814G>A | CA2693054523 | ANOS1 | c.207+16C>T (n.207+16C>T) c.204+16C>T (n.204+16C>T) | gnomAD v4 |
X | g.8731814G= | CA2414666200 | ANOS1 | c.207+16C= (n.207+16C=) c.204+16C= (n.204+16C=) | |
X | g.8731814G>T | CA2414666201 | ANOS1 | c.207+16C>A (n.207+16C>A) c.204+16C>A (n.204+16C>A) | dbSNP gnomAD v4 |
X | g.8731818dup | CA2693054522 | ANOS1 | c.207+16dup (n.207+16dup) c.204+16dup (n.204+16dup) | gnomAD v4 |
X | g.8731818del | CA879236515 | ANOS1 | c.207+16del (n.207+16del) c.204+16del (n.204+16del) | dbSNP gnomAD v4 |
X | g.8731815G>A | CA2693054524 | ANOS1 | c.207+15C>T (n.207+15C>T) c.204+15C>T (n.204+15C>T) | gnomAD v4 |
X | g.8731815G>C | CA2579546928 | ANOS1 | c.207+15C>G (n.207+15C>G) c.204+15C>G (n.204+15C>G) | |
X | g.8731815G>T | CA2693054525 | ANOS1 | c.207+15C>A (n.207+15C>A) c.204+15C>A (n.204+15C>A) | gnomAD v4 |
X | g.8731816G>A | CA2579546929 | ANOS1 | c.207+14C>T (n.207+14C>T) c.204+14C>T (n.204+14C>T) | gnomAD v4 |
X | g.8731817G>A | CA2414666203 | ANOS1 | c.207+13C>T (n.207+13C>T) c.204+13C>T (n.204+13C>T) | dbSNP gnomAD v4 |
X | g.8731817G= | CA2414666202 | ANOS1 | c.207+13C= (n.207+13C=) c.204+13C= (n.204+13C=) | |
X | g.8731818G>A | CA2693054526 | ANOS1 | c.207+12C>T (n.207+12C>T) c.204+12C>T (n.204+12C>T) | gnomAD v4 |
X | g.8731818G>T | CA2693054527 | ANOS1 | c.207+12C>A (n.207+12C>A) c.204+12C>A (n.204+12C>A) | gnomAD v4 |
X | g.8731819C>A | CA2693054528 | ANOS1 | c.207+11G>T (n.207+11G>T) c.204+11G>T (n.204+11G>T) | gnomAD v4 |
X | g.8731819C>T | CA2693054529 | ANOS1 | c.207+11G>A (n.207+11G>A) c.204+11G>A (n.204+11G>A) | gnomAD v4 |
X | g.8731820C>A | CA2693054530 | ANOS1 | c.207+10G>T (n.207+10G>T) c.204+10G>T (n.204+10G>T) | gnomAD v4 |
X | g.8731820C>G | CA2693054531 | ANOS1 | c.207+10G>C (n.207+10G>C) c.204+10G>C (n.204+10G>C) | gnomAD v4 |
X | g.8731821T>C | CA2693054532 | ANOS1 | c.207+9A>G (n.207+9A>G) c.204+9A>G (n.204+9A>G) | gnomAD v4 |
X | g.8731822C= | CA2414666204 | ANOS1 | c.207+8G= (n.207+8G=) c.204+8G= (n.204+8G=) | |
X | g.8731822C>T | CA10343856 | ANOS1 | c.207+8G>A (n.207+8G>A) c.204+8G>A (n.204+8G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.8731825del | CA2693054533 | ANOS1 | c.207+8del (n.207+8del) c.204+8del (n.204+8del) | gnomAD v4 |
X | g.8731823C>A | CA2414666207 | ANOS1 | c.207+7G>T (n.207+7G>T) c.204+7G>T (n.204+7G>T) | dbSNP |
X | g.8731823C= | CA2414666206 | ANOS1 | c.207+7G= (n.207+7G=) c.204+7G= (n.204+7G=) | |
X | g.8731823C>G | CA2414666205 | ANOS1 | c.207+7G>C (n.207+7G>C) c.204+7G>C (n.204+7G>C) | dbSNP |
X | g.8731823C>T | CA2693054534 | ANOS1 | c.207+7G>A (n.207+7G>A) c.204+7G>A (n.204+7G>A) | gnomAD v4 |
X | g.8731824C>A | CA1130929413 | ANOS1 | c.207+6G>T (n.207+6G>T) c.204+6G>T (n.204+6G>T) | gnomAD v3 gnomAD v4 |
X | g.8731824C>G | CA2693054535 | ANOS1 | c.207+6G>C (n.207+6G>C) c.204+6G>C (n.204+6G>C) | gnomAD v4 |
X | g.8731825C>A | CA2693054536 | ANOS1 | c.207+5G>T (n.207+5G>T) c.204+5G>T (n.204+5G>T) | gnomAD v4 |
X | g.8731825C>G | CA2693054537 | ANOS1 | c.207+5G>C (n.207+5G>C) c.204+5G>C (n.204+5G>C) | gnomAD v4 |
X | g.8731825C>T | CA2693054538 | ANOS1 | c.207+5G>A (n.207+5G>A) c.204+5G>A (n.204+5G>A) | gnomAD v4 |
X | g.8731826G>A | CA2414666209 | ANOS1 | c.207+4C>T (n.207+4C>T) c.204+4C>T (n.204+4C>T) | dbSNP gnomAD v4 |
X | g.8731826G= | CA2414666208 | ANOS1 | c.207+4C= (n.207+4C=) c.204+4C= (n.204+4C=) | |
X | g.8731826G>T | CA879236521 | ANOS1 | c.207+4C>A (n.207+4C>A) c.204+4C>A (n.204+4C>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.8731828A>C | CA412024237 | ANOS1 | c.207+2T>G (n.207+2T>G) c.204+2T>G (n.204+2T>G) | |
X | g.8731828A>G | CA412024236 | ANOS1 | c.207+2T>C (n.207+2T>C) c.204+2T>C (n.204+2T>C) | |
X | g.8731828A>T | CA412024238 | ANOS1 | c.207+2T>A (n.207+2T>A) c.204+2T>A (n.204+2T>A) | |
X | g.8731829C>A | CA412024239 | ANOS1 | c.207+1G>T (n.207+1G>T) c.204+1G>T (n.204+1G>T) | gnomAD v4 |
X | g.8731829C>G | CA412024240 | ANOS1 | c.207+1G>C (n.207+1G>C) c.204+1G>C (n.204+1G>C) | |
X | g.8731829C>T | CA412024241 | ANOS1 | c.207+1G>A (n.207+1G>A) c.204+1G>A (n.204+1G>A) | |
X | g.8731830C>A | CA412024242 | ANOS1 | c.207G>T (p.Gln69His) c.204G>T (p.Gln68His) | |
X | g.8731830C>G | CA412024243 | ANOS1 | c.207G>C (p.Gln69His) c.204G>C (p.Gln68His) | ClinVar |
X | g.8731830C>T | CA515172419 | ANOS1 | c.207G>A (p.Gln69=) c.204G>A (p.Gln68=) | |
X | g.8731831T>A | CA412024244 | ANOS1 | c.206A>T (p.Gln69Leu) c.203A>T (p.Gln68Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.8731831T>C | CA412024245 | ANOS1 | c.206A>G (p.Gln69Arg) c.203A>G (p.Gln68Arg) | gnomAD v4 |
X | g.8731831T>G | CA412024246 | ANOS1 | c.206A>C (p.Gln69Pro) c.203A>C (p.Gln68Pro) | |
X | g.8731831T= | CA2414666210 | ANOS1 | c.206A= (p.Gln69=) c.203A= (p.Gln68=) | |
X | g.8731832G>A | CA412024247 | ANOS1 | c.205C>T (p.Gln69Ter) c.202C>T (p.Gln68Ter) | |
X | g.8731832G>C | CA412024248 | ANOS1 | c.205C>G (p.Gln69Glu) c.202C>G (p.Gln68Glu) | |
X | g.8731832G>T | CA412024249 | ANOS1 | c.205C>A (p.Gln69Lys) c.202C>A (p.Gln68Lys) | gnomAD v4 |
X | g.8731833del | CA2693054539 | ANOS1 | c.205del (p.Gln69ArgfsTer28) c.202del (p.Gln68ArgfsTer28) | gnomAD v4 |
X | g.8731833G>A | CA515172423 | ANOS1 | c.204C>T (p.Phe68=) c.201C>T (p.Phe67=) | |
X | g.8731833G>C | CA412024250 | ANOS1 | c.204C>G (p.Phe68Leu) c.201C>G (p.Phe67Leu) | |
X | g.8731833G>T | CA412024251 | ANOS1 | c.204C>A (p.Phe68Leu) c.201C>A (p.Phe67Leu) | |
X | g.8731834A>C | CA412024252 | ANOS1 | c.203T>G (p.Phe68Cys) c.200T>G (p.Phe67Cys) | |
X | g.8731834A>G | CA412024254 | ANOS1 | c.203T>C (p.Phe68Ser) c.200T>C (p.Phe67Ser) | |
X | g.8731834A>T | CA412024253 | ANOS1 | c.203T>A (p.Phe68Tyr) c.200T>A (p.Phe67Tyr) | |
X | g.8731835del | CA2573159630 | ANOS1 | c.203del (p.Phe68SerfsTer29) c.200del (p.Phe67SerfsTer29) | ClinVar dbSNP |
X | g.8731835A>C | CA412024255 | ANOS1 | c.202T>G (p.Phe68Val) c.199T>G (p.Phe67Val) | |
X | g.8731835A>G | CA412024256 | ANOS1 | c.202T>C (p.Phe68Leu) c.199T>C (p.Phe67Leu) | |
X | g.8731835A>T | CA412024257 | ANOS1 | c.202T>A (p.Phe68Ile) c.199T>A (p.Phe67Ile) | |
X | g.8731836G>A | CA515172426 | ANOS1 | c.201C>T (p.His67=) c.198C>T (p.His66=) | gnomAD v4 |
X | g.8731836G>C | CA412024258 | ANOS1 | c.201C>G (p.His67Gln) c.198C>G (p.His66Gln) | dbSNP |
X | g.8731836G= | CA2414666211 | ANOS1 | c.201C= (p.His67=) c.198C= (p.His66=) | |
X | g.8731836G>T | CA412024259 | ANOS1 | c.201C>A (p.His67Gln) c.198C>A (p.His66Gln) | |
X | g.8731837T>A | CA412024260 | ANOS1 | c.200A>T (p.His67Leu) c.197A>T (p.His66Leu) | |
X | g.8731837T>C | CA412024261 | ANOS1 | c.200A>G (p.His67Arg) c.197A>G (p.His66Arg) | |
X | g.8731837T>G | CA412024262 | ANOS1 | c.200A>C (p.His67Pro) c.197A>C (p.His66Pro) | |
X | g.8731838G>A | CA412024263 | ANOS1 | c.199C>T (p.His67Tyr) c.196C>T (p.His66Tyr) | |
X | g.8731838G>C | CA412024264 | ANOS1 | c.199C>G (p.His67Asp) c.196C>G (p.His66Asp) | |
X | g.8731838G>T | CA412024265 | ANOS1 | c.199C>A (p.His67Asn) c.196C>A (p.His66Asn) | gnomAD v4 |
X | g.8731839C>A | CA412024267 | ANOS1 | c.198G>T (p.Gln66His) c.195G>T (p.Gln65His) | gnomAD v4 |
X | g.8731839C>G | CA412024266 | ANOS1 | c.198G>C (p.Gln66His) c.195G>C (p.Gln65His) | |
X | g.8731839C>T | CA515172427 | ANOS1 | c.198G>A (p.Gln66=) c.195G>A (p.Gln65=) | gnomAD v4 |
X | g.8731840del | CA2739268071 | ANOS1 | c.197del (p.Gln66ArgfsTer?) c.194del (p.Gln65ArgfsTer?) | ClinVar |
X | g.8731840T>A | CA412024268 | ANOS1 | c.197A>T (p.Gln66Leu) c.194A>T (p.Gln65Leu) | |
X | g.8731840T>C | CA412024269 | ANOS1 | c.197A>G (p.Gln66Arg) c.194A>G (p.Gln65Arg) | gnomAD v4 |
X | g.8731840T>G | CA412024270 | ANOS1 | c.197A>C (p.Gln66Pro) c.194A>C (p.Gln65Pro) | |
X | g.8731841G>A | CA412024271 | ANOS1 | c.196C>T (p.Gln66Ter) c.193C>T (p.Gln65Ter) | gnomAD v4 |
X | g.8731841G>C | CA412024272 | ANOS1 | c.196C>G (p.Gln66Glu) c.193C>G (p.Gln65Glu) | |
X | g.8731841G>T | CA412024273 | ANOS1 | c.196C>A (p.Gln66Lys) c.193C>A (p.Gln65Lys) | gnomAD v4 |
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 |