Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17553099_17553101delinsACT | CA1955197583 | OTOG | c.329-20_329-18delinsACT (n.329-20_329-18delinsACT) c.293-20_293-18delinsACT (n.293-20_293-18delinsACT) c.110-20_110-18delinsACT (n.110-20_110-18delinsACT) n.199-20_199-18delinsACT | |
11 | g.17553102_17553103del | CA674246234 | OTOG | c.329-17_329-16del (n.329-17_329-16del) c.293-17_293-16del (n.293-17_293-16del) c.110-17_110-16del (n.110-17_110-16del) n.199-17_199-16del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553101T>A | CA218489721 | OTOG | c.329-18T>A (n.329-18T>A) c.293-18T>A (n.293-18T>A) c.110-18T>A (n.110-18T>A) n.199-18T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553101T>C | CA2612679282 | OTOG | c.329-18T>C (n.329-18T>C) c.293-18T>C (n.293-18T>C) c.110-18T>C (n.110-18T>C) n.199-18T>C | gnomAD v4 |
11 | g.17553101T= | CA1955197585 | OTOG | c.329-18T= (n.329-18T=) c.293-18T= (n.293-18T=) c.110-18T= (n.110-18T=) n.199-18T= | |
11 | g.17553102C>G | CA2612679284 | OTOG | c.329-17C>G (n.329-17C>G) c.293-17C>G (n.293-17C>G) c.110-17C>G (n.110-17C>G) n.199-17C>G | gnomAD v4 |
11 | g.17553106_17553107del | CA2612679285 | OTOG | c.329-13_329-12del (n.329-13_329-12del) c.293-13_293-12del (n.293-13_293-12del) c.110-13_110-12del (n.110-13_110-12del) n.199-13_199-12del | gnomAD v4 |
11 | g.17553104G>A | CA2612679286 | OTOG | c.329-15G>A (n.329-15G>A) c.293-15G>A (n.293-15G>A) c.110-15G>A (n.110-15G>A) n.199-15G>A | gnomAD v4 |
11 | g.17553104G>C | CA674246239 | OTOG | c.329-15G>C (n.329-15G>C) c.293-15G>C (n.293-15G>C) c.110-15G>C (n.110-15G>C) n.199-15G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553104G= | CA1955197586 | OTOG | c.329-15G= (n.329-15G=) c.293-15G= (n.293-15G=) c.110-15G= (n.110-15G=) n.199-15G= | |
11 | g.17553105T>A | CA1955197588 | OTOG | c.329-14T>A (n.329-14T>A) c.293-14T>A (n.293-14T>A) c.110-14T>A (n.110-14T>A) n.199-14T>A | dbSNP |
11 | g.17553105T= | CA1955197587 | OTOG | c.329-14T= (n.329-14T=) c.293-14T= (n.293-14T=) c.110-14T= (n.110-14T=) n.199-14T= | |
11 | g.17553106G>T | CA2612679289 | OTOG | c.329-13G>T (n.329-13G>T) c.293-13G>T (n.293-13G>T) c.110-13G>T (n.110-13G>T) n.199-13G>T | gnomAD v4 |
11 | g.17553109T>C | CA218489723 | OTOG | c.329-10T>C (n.329-10T>C) c.293-10T>C (n.293-10T>C) c.110-10T>C (n.110-10T>C) n.199-10T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553109T= | CA1955197589 | OTOG | c.329-10T= (n.329-10T=) c.293-10T= (n.293-10T=) c.110-10T= (n.110-10T=) n.199-10T= | |
11 | g.17553112del | CA2612679291 | OTOG | c.329-7del (n.329-7del) c.293-7del (n.293-7del) c.110-7del (n.110-7del) n.199-7del | gnomAD v4 |
11 | g.17553111C= | CA1955197590 | OTOG | c.329-8C= (n.329-8C=) c.293-8C= (n.293-8C=) c.110-8C= (n.110-8C=) n.199-8C= | |
11 | g.17553111C>G | CA218489725 | OTOG | c.329-8C>G (n.329-8C>G) c.293-8C>G (n.293-8C>G) c.110-8C>G (n.110-8C>G) n.199-8C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553112C>T | CA2612679293 | OTOG | c.329-7C>T (n.329-7C>T) c.293-7C>T (n.293-7C>T) c.110-7C>T (n.110-7C>T) n.199-7C>T | gnomAD v4 |
11 | g.17553113A= | CA1955197591 | OTOG | c.329-6A= (n.329-6A=) c.293-6A= (n.293-6A=) c.110-6A= (n.110-6A=) n.199-6A= | |
11 | g.17553113A>C | CA2612679294 | OTOG | c.329-6A>C (n.329-6A>C) c.293-6A>C (n.293-6A>C) c.110-6A>C (n.110-6A>C) n.199-6A>C | gnomAD v4 |
11 | g.17553113A>G | CA1955197592 | OTOG | c.329-6A>G (n.329-6A>G) c.293-6A>G (n.293-6A>G) c.110-6A>G (n.110-6A>G) n.199-6A>G | dbSNP |
11 | g.17553114T>C | CA2612679296 | OTOG | c.329-5T>C (n.329-5T>C) c.293-5T>C (n.293-5T>C) c.110-5T>C (n.110-5T>C) n.199-5T>C | gnomAD v4 |
11 | g.17553114T>G | CA2612679298 | OTOG | c.329-5T>G (n.329-5T>G) c.293-5T>G (n.293-5T>G) c.110-5T>G (n.110-5T>G) n.199-5T>G | gnomAD v4 |
11 | g.17553115G>A | CA2574770013 | OTOG | c.329-4G>A (n.329-4G>A) c.293-4G>A (n.293-4G>A) c.110-4G>A (n.110-4G>A) n.199-4G>A | |
11 | g.17553116C>A | CA597671862 | OTOG | c.329-3C>A (n.329-3C>A) c.293-3C>A (n.293-3C>A) c.110-3C>A (n.110-3C>A) n.199-3C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553116C= | CA1955197593 | OTOG | c.329-3C= (n.329-3C=) c.293-3C= (n.293-3C=) c.110-3C= (n.110-3C=) n.199-3C= | |
11 | g.17553116C>T | CA2612679300 | OTOG | c.329-3C>T (n.329-3C>T) c.293-3C>T (n.293-3C>T) c.110-3C>T (n.110-3C>T) n.199-3C>T | gnomAD v4 |
11 | g.17553117A>C | CA379810335 | OTOG | c.329-2A>C (n.329-2A>C) c.293-2A>C (n.293-2A>C) c.110-2A>C (n.110-2A>C) n.199-2A>C | |
11 | g.17553117A>G | CA379810339 | OTOG | c.329-2A>G (n.329-2A>G) c.293-2A>G (n.293-2A>G) c.110-2A>G (n.110-2A>G) n.199-2A>G | |
11 | g.17553117A>T | CA379810341 | OTOG | c.329-2A>T (n.329-2A>T) c.293-2A>T (n.293-2A>T) c.110-2A>T (n.110-2A>T) n.199-2A>T | |
11 | g.17553118G>A | CA379810344 | OTOG | c.329-1G>A (n.329-1G>A) c.293-1G>A (n.293-1G>A) c.110-1G>A (n.110-1G>A) n.199-1G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553118G>C | CA379810347 | OTOG | c.329-1G>C (n.329-1G>C) c.293-1G>C (n.293-1G>C) c.110-1G>C (n.110-1G>C) n.199-1G>C | |
11 | g.17553118G= | CA1955197594 | OTOG | c.329-1G= (n.329-1G=) c.293-1G= (n.293-1G=) c.110-1G= (n.110-1G=) n.199-1G= | |
11 | g.17553118G>T | CA379810352 | OTOG | c.329-1G>T (n.329-1G>T) c.293-1G>T (n.293-1G>T) c.110-1G>T (n.110-1G>T) n.199-1G>T | |
11 | g.17553119A>C | CA379810362 | OTOG | c.329A>C (p.Tyr110Ser) c.293A>C (p.Tyr98Ser) c.110A>C (p.Tyr37Ser) n.199A>C | |
11 | g.17553119A>G | CA379810356 | OTOG | c.329A>G (p.Tyr110Cys) c.293A>G (p.Tyr98Cys) c.110A>G (p.Tyr37Cys) n.199A>G | |
11 | g.17553119A>T | CA379810360 | OTOG | c.329A>T (p.Tyr110Phe) c.293A>T (p.Tyr98Phe) c.110A>T (p.Tyr37Phe) n.199A>T | |
11 | g.17553120C>A | CA379810380 | OTOG | c.330C>A (p.Tyr110Ter) c.294C>A (p.Tyr98Ter) c.111C>A (p.Tyr37Ter) n.200C>A | |
11 | g.17553120C= | CA1955197595 | OTOG | c.330C= (p.Tyr110=) c.294C= (p.Tyr98=) c.111C= (p.Tyr37=) n.200C= | |
11 | g.17553120C>G | CA218489735 | OTOG | c.330C>G (p.Tyr110Ter) c.294C>G (p.Tyr98Ter) c.111C>G (p.Tyr37Ter) n.200C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553120C>T | CA473305553 | OTOG | c.330C>T (p.Tyr110=) c.294C>T (p.Tyr98=) c.111C>T (p.Tyr37=) n.200C>T | |
11 | g.17553121T>A | CA379810391 | OTOG | c.331T>A (p.Leu111Met) c.295T>A (p.Leu99Met) c.112T>A (p.Leu38Met) n.201T>A | |
11 | g.17553121T>C | CA473305557 | OTOG | c.331T>C (p.Leu111=) c.295T>C (p.Leu99=) c.112T>C (p.Leu38=) n.201T>C | |
11 | g.17553121T>G | CA379810393 | OTOG | c.331T>G (p.Leu111Val) c.295T>G (p.Leu99Val) c.112T>G (p.Leu38Val) n.201T>G | |
11 | g.17553122T>A | CA379810397 | OTOG | c.332T>A (p.Leu111Ter) c.296T>A (p.Leu99Ter) c.113T>A (p.Leu38Ter) n.202T>A | |
11 | g.17553122T>C | CA379810400 | OTOG | c.332T>C (p.Leu111Ser) c.296T>C (p.Leu99Ser) c.113T>C (p.Leu38Ser) n.202T>C | |
11 | g.17553122T>G | CA379810403 | OTOG | c.332T>G (p.Leu111Trp) c.296T>G (p.Leu99Trp) c.113T>G (p.Leu38Trp) n.202T>G | gnomAD v4 |
11 | g.17553123G>A | CA473305559 | OTOG | c.333G>A (p.Leu111=) c.297G>A (p.Leu99=) c.114G>A (p.Leu38=) n.203G>A | |
11 | g.17553123G>C | CA379810407 | OTOG | c.333G>C (p.Leu111Phe) c.297G>C (p.Leu99Phe) c.114G>C (p.Leu38Phe) n.203G>C | |
11 | g.17553123G= | CA1955197596 | OTOG | c.333G= (p.Leu111=) c.297G= (p.Leu99=) c.114G= (p.Leu38=) n.203G= | |
11 | g.17553123G>T | CA379810409 | OTOG | c.333G>T (p.Leu111Phe) c.297G>T (p.Leu99Phe) c.114G>T (p.Leu38Phe) n.203G>T | dbSNP gnomAD v4 |
11 | g.17553124T>A | CA379810412 | OTOG | c.334T>A (p.Phe112Ile) c.298T>A (p.Phe100Ile) c.115T>A (p.Phe39Ile) n.204T>A | |
11 | g.17553124T>C | CA379810415 | OTOG | c.334T>C (p.Phe112Leu) c.298T>C (p.Phe100Leu) c.115T>C (p.Phe39Leu) n.204T>C | |
11 | g.17553124T>G | CA379810418 | OTOG | c.334T>G (p.Phe112Val) c.298T>G (p.Phe100Val) c.115T>G (p.Phe39Val) n.204T>G | |
11 | g.17553125T>A | CA379810419 | OTOG | c.335T>A (p.Phe112Tyr) c.299T>A (p.Phe100Tyr) c.116T>A (p.Phe39Tyr) n.205T>A | |
11 | g.17553125T>C | CA379810425 | OTOG | c.335T>C (p.Phe112Ser) c.299T>C (p.Phe100Ser) c.116T>C (p.Phe39Ser) n.205T>C | |
11 | g.17553125T>G | CA379810422 | OTOG | c.335T>G (p.Phe112Cys) c.299T>G (p.Phe100Cys) c.116T>G (p.Phe39Cys) n.205T>G | |
11 | g.17553126C>A | CA379810428 | OTOG | c.336C>A (p.Phe112Leu) c.300C>A (p.Phe100Leu) c.117C>A (p.Phe39Leu) n.206C>A | |
11 | g.17553126C>G | CA379810431 | OTOG | c.336C>G (p.Phe112Leu) c.300C>G (p.Phe100Leu) c.117C>G (p.Phe39Leu) n.206C>G | |
11 | g.17553126C>T | CA473305563 | OTOG | c.336C>T (p.Phe112=) c.300C>T (p.Phe100=) c.117C>T (p.Phe39=) n.206C>T | |
11 | g.17553127T>A | CA379810433 | OTOG | c.337T>A (p.Ser113Thr) c.301T>A (p.Ser101Thr) c.118T>A (p.Ser40Thr) n.207T>A | |
11 | g.17553127T>C | CA379810434 | OTOG | c.337T>C (p.Ser113Pro) c.301T>C (p.Ser101Pro) c.118T>C (p.Ser40Pro) n.207T>C | |
11 | g.17553127T>G | CA379810435 | OTOG | c.337T>G (p.Ser113Ala) c.301T>G (p.Ser101Ala) c.118T>G (p.Ser40Ala) n.207T>G | |
11 | g.17553128C>A | CA379810437 | OTOG | c.338C>A (p.Ser113Tyr) c.302C>A (p.Ser101Tyr) c.119C>A (p.Ser40Tyr) n.208C>A | |
11 | g.17553128C= | CA1955197597 | OTOG | c.338C= (p.Ser113=) c.302C= (p.Ser101=) c.119C= (p.Ser40=) n.208C= | |
11 | g.17553128C>G | CA379810438 | OTOG | c.338C>G (p.Ser113Cys) c.302C>G (p.Ser101Cys) c.119C>G (p.Ser40Cys) n.208C>G | dbSNP |
11 | g.17553128C>T | CA379810440 | OTOG | c.338C>T (p.Ser113Phe) c.302C>T (p.Ser101Phe) c.119C>T (p.Ser40Phe) n.208C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553129C>A | CA473305565 | OTOG | c.339C>A (p.Ser113=) c.303C>A (p.Ser101=) c.120C>A (p.Ser40=) n.209C>A | |
11 | g.17553129C>G | CA473305567 | OTOG | c.339C>G (p.Ser113=) c.303C>G (p.Ser101=) c.120C>G (p.Ser40=) n.209C>G | |
11 | g.17553129C>T | CA473305569 | OTOG | c.339C>T (p.Ser113=) c.303C>T (p.Ser101=) c.120C>T (p.Ser40=) n.209C>T | |
11 | g.17553130T>A | CA379810443 | OTOG | c.340T>A (p.Cys114Ser) c.304T>A (p.Cys102Ser) c.121T>A (p.Cys41Ser) n.210T>A | |
11 | g.17553130T>C | CA379810446 | OTOG | c.340T>C (p.Cys114Arg) c.304T>C (p.Cys102Arg) c.121T>C (p.Cys41Arg) n.210T>C | |
11 | g.17553130T>G | CA379810448 | OTOG | c.340T>G (p.Cys114Gly) c.304T>G (p.Cys102Gly) c.121T>G (p.Cys41Gly) n.210T>G | |
11 | g.17553131G>A | CA379810455 | OTOG | c.341G>A (p.Cys114Tyr) c.305G>A (p.Cys102Tyr) c.122G>A (p.Cys41Tyr) n.211G>A | |
11 | g.17553131G>C | CA379810453 | OTOG | c.341G>C (p.Cys114Ser) c.305G>C (p.Cys102Ser) c.122G>C (p.Cys41Ser) n.211G>C | |
11 | g.17553131G>T | CA379810451 | OTOG | c.341G>T (p.Cys114Phe) c.305G>T (p.Cys102Phe) c.122G>T (p.Cys41Phe) n.211G>T | |
11 | g.17553132C>A | CA379810458 | OTOG | c.342C>A (p.Cys114Ter) c.306C>A (p.Cys102Ter) c.123C>A (p.Cys41Ter) n.212C>A | gnomAD v4 |
11 | g.17553132C>G | CA379810461 | OTOG | c.342C>G (p.Cys114Trp) c.306C>G (p.Cys102Trp) c.123C>G (p.Cys41Trp) n.212C>G | |
11 | g.17553132C>T | CA473516680 | OTOG | c.342C>T (p.Cys114=) c.306C>T (p.Cys102=) c.123C>T (p.Cys41=) n.212C>T | |
11 | g.17553133T>A | CA379810465 | OTOG | c.343T>A (p.Phe115Ile) c.307T>A (p.Phe103Ile) c.124T>A (p.Phe42Ile) n.213T>A | |
11 | g.17553133T>C | CA379810468 | OTOG | c.343T>C (p.Phe115Leu) c.307T>C (p.Phe103Leu) c.124T>C (p.Phe42Leu) n.213T>C | |
11 | g.17553133T>G | CA379810472 | OTOG | c.343T>G (p.Phe115Val) c.307T>G (p.Phe103Val) c.124T>G (p.Phe42Val) n.213T>G | |
11 | g.17553134T>A | CA379810475 | OTOG | c.344T>A (p.Phe115Tyr) c.308T>A (p.Phe103Tyr) c.125T>A (p.Phe42Tyr) n.214T>A | |
11 | g.17553134T>C | CA379810478 | OTOG | c.344T>C (p.Phe115Ser) c.308T>C (p.Phe103Ser) c.125T>C (p.Phe42Ser) n.214T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553134T>G | CA379810481 | OTOG | c.344T>G (p.Phe115Cys) c.308T>G (p.Phe103Cys) c.125T>G (p.Phe42Cys) n.214T>G | |
11 | g.17553134T= | CA1955197598 | OTOG | c.344T= (p.Phe115=) c.308T= (p.Phe103=) c.125T= (p.Phe42=) n.214T= | |
11 | g.17553135C>A | CA379810484 | OTOG | c.345C>A (p.Phe115Leu) c.309C>A (p.Phe103Leu) c.126C>A (p.Phe42Leu) n.215C>A | |
11 | g.17553135C>G | CA379810488 | OTOG | c.345C>G (p.Phe115Leu) c.309C>G (p.Phe103Leu) c.126C>G (p.Phe42Leu) n.215C>G | |
11 | g.17553135C>T | CA473516681 | OTOG | c.345C>T (p.Phe115=) c.309C>T (p.Phe103=) c.126C>T (p.Phe42=) n.215C>T | |
11 | g.17553136A= | CA1955197599 | OTOG | c.346A= (p.Asn116=) c.310A= (p.Asn104=) c.127A= (p.Asn43=) n.216A= | |
11 | g.17553136A>C | CA379810492 | OTOG | c.346A>C (p.Asn116His) c.310A>C (p.Asn104His) c.127A>C (p.Asn43His) n.216A>C | |
11 | g.17553136A>G | CA5905335 | OTOG | c.346A>G (p.Asn116Asp) c.310A>G (p.Asn104Asp) c.127A>G (p.Asn43Asp) n.216A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553136A>T | CA379810496 | OTOG | c.346A>T (p.Asn116Tyr) c.310A>T (p.Asn104Tyr) c.127A>T (p.Asn43Tyr) n.216A>T | |
11 | g.17553137A= | CA1955197600 | OTOG | c.347A= (p.Asn116=) c.311A= (p.Asn104=) c.128A= (p.Asn43=) n.217A= | |
11 | g.17553137A>C | CA379810503 | OTOG | c.347A>C (p.Asn116Thr) c.311A>C (p.Asn104Thr) c.128A>C (p.Asn43Thr) n.217A>C | |
11 | g.17553137A>G | CA5905336 | OTOG | c.347A>G (p.Asn116Ser) c.311A>G (p.Asn104Ser) c.128A>G (p.Asn43Ser) n.217A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553137A>T | CA379810500 | OTOG | c.347A>T (p.Asn116Ile) c.311A>T (p.Asn104Ile) c.128A>T (p.Asn43Ile) n.217A>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553138T>A | CA379810512 | OTOG | c.348T>A (p.Asn116Lys) c.312T>A (p.Asn104Lys) c.129T>A (p.Asn43Lys) n.218T>A | |
11 | g.17553138T>C | CA5905337 | OTOG | c.348T>C (p.Asn116=) c.312T>C (p.Asn104=) c.129T>C (p.Asn43=) n.218T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17553138T>G | CA379810517 | OTOG | c.348T>G (p.Asn116Lys) c.312T>G (p.Asn104Lys) c.129T>G (p.Asn43Lys) n.218T>G | |
11 | g.17553138T= | CA1955197601 | OTOG | c.348T= (p.Asn116=) c.312T= (p.Asn104=) c.129T= (p.Asn43=) n.218T= | |
11 | g.17553139G>A | CA379810521 | OTOG | c.349G>A (p.Gly117Arg) c.313G>A (p.Gly105Arg) c.130G>A (p.Gly44Arg) n.219G>A | |
11 | g.17553139G>C | CA379810523 | OTOG | c.349G>C (p.Gly117Arg) c.313G>C (p.Gly105Arg) c.130G>C (p.Gly44Arg) n.219G>C | |
11 | g.17553139G>T | CA379810531 | OTOG | c.349G>T (p.Gly117Ter) c.313G>T (p.Gly105Ter) c.130G>T (p.Gly44Ter) n.219G>T | |
11 | g.17553140G>A | CA379810536 | OTOG | c.350G>A (p.Gly117Glu) c.314G>A (p.Gly105Glu) c.131G>A (p.Gly44Glu) n.220G>A | |
11 | g.17553140G>C | CA379810538 | OTOG | c.350G>C (p.Gly117Ala) c.314G>C (p.Gly105Ala) c.131G>C (p.Gly44Ala) n.220G>C | |
11 | g.17553140G= | CA1955197602 | OTOG | c.350G= (p.Gly117=) c.314G= (p.Gly105=) c.131G= (p.Gly44=) n.220G= | |
11 | g.17553140G>T | CA218489764 | OTOG | c.350G>T (p.Gly117Val) c.314G>T (p.Gly105Val) c.131G>T (p.Gly44Val) n.220G>T | dbSNP |
11 | g.17553141A>C | CA473516685 | OTOG | c.351A>C (p.Gly117=) c.315A>C (p.Gly105=) c.132A>C (p.Gly44=) n.221A>C | |
11 | g.17553141A>G | CA473516686 | OTOG | c.351A>G (p.Gly117=) c.315A>G (p.Gly105=) c.132A>G (p.Gly44=) n.221A>G | |
11 | g.17553141A>T | CA473516687 | OTOG | c.351A>T (p.Gly117=) c.315A>T (p.Gly105=) c.132A>T (p.Gly44=) n.221A>T | |
11 | g.17553142G>A | CA379810543 | OTOG | c.352G>A (p.Gly118Ser) c.316G>A (p.Gly106Ser) c.133G>A (p.Gly45Ser) n.222G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553142G>C | CA379810546 | OTOG | c.352G>C (p.Gly118Arg) c.316G>C (p.Gly106Arg) c.133G>C (p.Gly45Arg) n.222G>C | |
11 | g.17553142G= | CA1955197603 | OTOG | c.352G= (p.Gly118=) c.316G= (p.Gly106=) c.133G= (p.Gly45=) n.222G= | |
11 | g.17553142G>T | CA379810548 | OTOG | c.352G>T (p.Gly118Cys) c.316G>T (p.Gly106Cys) c.133G>T (p.Gly45Cys) n.222G>T | gnomAD v4 |
11 | g.17553143G>A | CA218489772 | OTOG | c.353G>A (p.Gly118Asp) c.317G>A (p.Gly106Asp) c.134G>A (p.Gly45Asp) n.223G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553143G>C | CA379810552 | OTOG | c.353G>C (p.Gly118Ala) c.317G>C (p.Gly106Ala) c.134G>C (p.Gly45Ala) n.223G>C | gnomAD v4 |
11 | g.17553143G= | CA1955197604 | OTOG | c.353G= (p.Gly118=) c.317G= (p.Gly106=) c.134G= (p.Gly45=) n.223G= | |
11 | g.17553143G>T | CA379810553 | OTOG | c.353G>T (p.Gly118Val) c.317G>T (p.Gly106Val) c.134G>T (p.Gly45Val) n.223G>T | gnomAD v4 |
11 | g.17553144C>A | CA473516689 | OTOG | c.354C>A (p.Gly118=) c.318C>A (p.Gly106=) c.135C>A (p.Gly45=) n.224C>A | |
11 | g.17553144C= | CA1955197605 | OTOG | c.354C= (p.Gly118=) c.318C= (p.Gly106=) c.135C= (p.Gly45=) n.224C= | |
11 | g.17553144C>G | CA473516690 | OTOG | c.354C>G (p.Gly118=) c.318C>G (p.Gly106=) c.135C>G (p.Gly45=) n.224C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553144C>T | CA473516691 | OTOG | c.354C>T (p.Gly118=) c.318C>T (p.Gly106=) c.135C>T (p.Gly45=) n.224C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553145G>A | CA218489773 | OTOG | c.355G>A (p.Glu119Lys) c.319G>A (p.Glu107Lys) c.136G>A (p.Glu46Lys) n.225G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553145G>C | CA379810556 | OTOG | c.355G>C (p.Glu119Gln) c.319G>C (p.Glu107Gln) c.136G>C (p.Glu46Gln) n.225G>C | |
11 | g.17553145G= | CA1955197606 | OTOG | c.355G= (p.Glu119=) c.319G= (p.Glu107=) c.136G= (p.Glu46=) n.225G= | |
11 | g.17553145G>T | CA379810554 | OTOG | c.355G>T (p.Glu119Ter) c.319G>T (p.Glu107Ter) c.136G>T (p.Glu46Ter) n.225G>T | COSMIC COSMIC |
11 | g.17553146A>C | CA379810560 | OTOG | c.356A>C (p.Glu119Ala) c.320A>C (p.Glu107Ala) c.137A>C (p.Glu46Ala) n.226A>C | |
11 | g.17553146A>G | CA379810562 | OTOG | c.356A>G (p.Glu119Gly) c.320A>G (p.Glu107Gly) c.137A>G (p.Glu46Gly) n.226A>G | |
11 | g.17553146A>T | CA379810564 | OTOG | c.356A>T (p.Glu119Val) c.320A>T (p.Glu107Val) c.137A>T (p.Glu46Val) n.226A>T | |
11 | g.17553147G>A | CA218489774 | OTOG | c.357G>A (p.Glu119=) c.321G>A (p.Glu107=) c.138G>A (p.Glu46=) n.227G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553147G>C | CA379810568 | OTOG | c.357G>C (p.Glu119Asp) c.321G>C (p.Glu107Asp) c.138G>C (p.Glu46Asp) n.227G>C | |
11 | g.17553147G= | CA1955197607 | OTOG | c.357G= (p.Glu119=) c.321G= (p.Glu107=) c.138G= (p.Glu46=) n.227G= | |
11 | g.17553147G>T | CA379810569 | OTOG | c.357G>T (p.Glu119Asp) c.321G>T (p.Glu107Asp) c.138G>T (p.Glu46Asp) n.227G>T | gnomAD v4 COSMIC COSMIC |
11 | g.17553148T>A | CA379810572 | OTOG | c.358T>A (p.Cys120Ser) c.322T>A (p.Cys108Ser) c.139T>A (p.Cys47Ser) n.228T>A | |
11 | g.17553148T>C | CA379810573 | OTOG | c.358T>C (p.Cys120Arg) c.322T>C (p.Cys108Arg) c.139T>C (p.Cys47Arg) n.228T>C | gnomAD v4 |
11 | g.17553148T>G | CA379810575 | OTOG | c.358T>G (p.Cys120Gly) c.322T>G (p.Cys108Gly) c.139T>G (p.Cys47Gly) n.228T>G | |
11 | g.17553149G>A | CA379810579 | OTOG | c.359G>A (p.Cys120Tyr) c.323G>A (p.Cys108Tyr) c.140G>A (p.Cys47Tyr) n.229G>A | |
11 | g.17553149G>C | CA379810582 | OTOG | c.359G>C (p.Cys120Ser) c.323G>C (p.Cys108Ser) c.140G>C (p.Cys47Ser) n.229G>C | |
11 | g.17553149G>T | CA379810585 | OTOG | c.359G>T (p.Cys120Phe) c.323G>T (p.Cys108Phe) c.140G>T (p.Cys47Phe) n.229G>T | |
11 | g.17553150T>A | CA379810589 | OTOG | c.360T>A (p.Cys120Ter) c.324T>A (p.Cys108Ter) c.141T>A (p.Cys47Ter) n.230T>A | |
11 | g.17553150T>C | CA473516692 | OTOG | c.360T>C (p.Cys120=) c.324T>C (p.Cys108=) c.141T>C (p.Cys47=) n.230T>C | |
11 | g.17553150T>G | CA379810590 | OTOG | c.360T>G (p.Cys120Trp) c.324T>G (p.Cys108Trp) c.141T>G (p.Cys47Trp) n.230T>G | |
11 | g.17553151G>A | CA379810596 | OTOG | c.361G>A (p.Val121Met) c.325G>A (p.Val109Met) c.142G>A (p.Val48Met) n.231G>A | |
11 | g.17553151G>C | CA379810602 | OTOG | c.361G>C (p.Val121Leu) c.325G>C (p.Val109Leu) c.142G>C (p.Val48Leu) n.231G>C | |
11 | g.17553151G>T | CA379810593 | OTOG | c.361G>T (p.Val121Leu) c.325G>T (p.Val109Leu) c.142G>T (p.Val48Leu) n.231G>T | |
11 | g.17553152T>A | CA379810606 | OTOG | c.362T>A (p.Val121Glu) c.326T>A (p.Val109Glu) c.143T>A (p.Val48Glu) n.232T>A | |
11 | g.17553152T>C | CA379810608 | OTOG | c.362T>C (p.Val121Ala) c.326T>C (p.Val109Ala) c.143T>C (p.Val48Ala) n.232T>C | |
11 | g.17553152T>G | CA379810610 | OTOG | c.362T>G (p.Val121Gly) c.326T>G (p.Val109Gly) c.143T>G (p.Val48Gly) n.232T>G | |
11 | g.17553153G>A | CA218489775 | OTOG | c.363G>A (p.Val121=) c.327G>A (p.Val109=) c.144G>A (p.Val48=) n.233G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553153G>C | CA473516693 | OTOG | c.363G>C (p.Val121=) c.327G>C (p.Val109=) c.144G>C (p.Val48=) n.233G>C | |
11 | g.17553153G= | CA1955197608 | OTOG | c.363G= (p.Val121=) c.327G= (p.Val109=) c.144G= (p.Val48=) n.233G= | |
11 | g.17553153G>T | CA473516694 | OTOG | c.363G>T (p.Val121=) c.327G>T (p.Val109=) c.144G>T (p.Val48=) n.233G>T | |
11 | g.17553154C>A | CA379810614 | OTOG | c.364C>A (p.His122Asn) c.328C>A (p.His110Asn) c.145C>A (p.His49Asn) n.234C>A | |
11 | g.17553154C= | CA1955197609 | OTOG | c.364C= (p.His122=) c.328C= (p.His110=) c.145C= (p.His49=) n.234C= | |
11 | g.17553154C>G | CA379810616 | OTOG | c.364C>G (p.His122Asp) c.328C>G (p.His110Asp) c.145C>G (p.His49Asp) n.234C>G | |
11 | g.17553154C>T | CA379810619 | OTOG | c.364C>T (p.His122Tyr) c.328C>T (p.His110Tyr) c.145C>T (p.His49Tyr) n.234C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553155A= | CA1955197610 | OTOG | c.365A= (p.His122=) c.329A= (p.His110=) c.146A= (p.His49=) n.235A= | |
11 | g.17553155A>C | CA379810621 | OTOG | c.365A>C (p.His122Pro) c.329A>C (p.His110Pro) c.146A>C (p.His49Pro) n.235A>C | |
11 | g.17553155A>G | CA5905338 | OTOG | c.365A>G (p.His122Arg) c.329A>G (p.His110Arg) c.146A>G (p.His49Arg) n.235A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17553155A>T | CA379810625 | OTOG | c.365A>T (p.His122Leu) c.329A>T (p.His110Leu) c.146A>T (p.His49Leu) n.235A>T | |
11 | g.17553156C>A | CA379810628 | OTOG | c.366C>A (p.His122Gln) c.330C>A (p.His110Gln) c.147C>A (p.His49Gln) n.236C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553156C= | CA1955197611 | OTOG | c.366C= (p.His122=) c.330C= (p.His110=) c.147C= (p.His49=) n.236C= | |
11 | g.17553156C>G | CA379810630 | OTOG | c.366C>G (p.His122Gln) c.330C>G (p.His110Gln) c.147C>G (p.His49Gln) n.236C>G | |
11 | g.17553156C>T | CA473516695 | OTOG | c.366C>T (p.His122=) c.330C>T (p.His110=) c.147C>T (p.His49=) n.236C>T | |
11 | g.17553157C>A | CA379810640 | OTOG | c.367C>A (p.Pro123Thr) c.331C>A (p.Pro111Thr) c.148C>A (p.Pro50Thr) n.237C>A | |
11 | g.17553157C= | CA1955197612 | OTOG | c.367C= (p.Pro123=) c.331C= (p.Pro111=) c.148C= (p.Pro50=) n.237C= | |
11 | g.17553157C>G | CA379810638 | OTOG | c.367C>G (p.Pro123Ala) c.331C>G (p.Pro111Ala) c.148C>G (p.Pro50Ala) n.237C>G | |
11 | g.17553157C>T | CA218489789 | OTOG | c.367C>T (p.Pro123Ser) c.331C>T (p.Pro111Ser) c.148C>T (p.Pro50Ser) n.237C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553158C>A | CA379810643 | OTOG | c.368C>A (p.Pro123Gln) c.332C>A (p.Pro111Gln) c.149C>A (p.Pro50Gln) n.238C>A | |
11 | g.17553158C>G | CA379810647 | OTOG | c.368C>G (p.Pro123Arg) c.332C>G (p.Pro111Arg) c.149C>G (p.Pro50Arg) n.238C>G | |
11 | g.17553158C>T | CA379810654 | OTOG | c.368C>T (p.Pro123Leu) c.332C>T (p.Pro111Leu) c.149C>T (p.Pro50Leu) n.238C>T | gnomAD v4 |
11 | g.17553159A>C | CA473516696 | OTOG | c.369A>C (p.Pro123=) c.333A>C (p.Pro111=) c.150A>C (p.Pro50=) n.239A>C | |
11 | g.17553159A>G | CA473516697 | OTOG | c.369A>G (p.Pro123=) c.333A>G (p.Pro111=) c.150A>G (p.Pro50=) n.239A>G | |
11 | g.17553159A>T | CA473516698 | OTOG | c.369A>T (p.Pro123=) c.333A>T (p.Pro111=) c.150A>T (p.Pro50=) n.239A>T | |
11 | g.17553160G>A | CA379810655 | OTOG | c.370G>A (p.Ala124Thr) c.334G>A (p.Ala112Thr) c.151G>A (p.Ala51Thr) n.240G>A | |
11 | g.17553160G>C | CA379810656 | OTOG | c.370G>C (p.Ala124Pro) c.334G>C (p.Ala112Pro) c.151G>C (p.Ala51Pro) n.240G>C | gnomAD v4 |
11 | g.17553160G= | CA1955197613 | OTOG | c.370G= (p.Ala124=) c.334G= (p.Ala112=) c.151G= (p.Ala51=) n.240G= | |
11 | g.17553160G>T | CA379810658 | OTOG | c.370G>T (p.Ala124Ser) c.334G>T (p.Ala112Ser) c.151G>T (p.Ala51Ser) n.240G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553161C>A | CA379810662 | OTOG | c.371C>A (p.Ala124Asp) c.335C>A (p.Ala112Asp) c.152C>A (p.Ala51Asp) n.241C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553161C= | CA1955197614 | OTOG | c.371C= (p.Ala124=) c.335C= (p.Ala112=) c.152C= (p.Ala51=) n.241C= | |
11 | g.17553161C>G | CA10576852 | OTOG | c.371C>G (p.Ala124Gly) c.335C>G (p.Ala112Gly) c.152C>G (p.Ala51Gly) n.241C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553161C>T | CA218489804 | OTOG | c.371C>T (p.Ala124Val) c.335C>T (p.Ala112Val) c.152C>T (p.Ala51Val) n.241C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553162C>A | CA473516699 | OTOG | c.372C>A (p.Ala124=) c.336C>A (p.Ala112=) c.153C>A (p.Ala51=) n.242C>A | |
11 | g.17553162C= | CA1955197615 | OTOG | c.372C= (p.Ala124=) c.336C= (p.Ala112=) c.153C= (p.Ala51=) n.242C= | |
11 | g.17553162C>G | CA218489810 | OTOG | c.372C>G (p.Ala124=) c.336C>G (p.Ala112=) c.153C>G (p.Ala51=) n.242C>G | dbSNP gnomAD v4 |
11 | g.17553162C>T | CA473516700 | OTOG | c.372C>T (p.Ala124=) c.336C>T (p.Ala112=) c.153C>T (p.Ala51=) n.242C>T | gnomAD v4 |
11 | g.17553163T>A | CA379810671 | OTOG | c.373T>A (p.Phe125Ile) c.337T>A (p.Phe113Ile) c.154T>A (p.Phe52Ile) n.243T>A | |
11 | g.17553163T>C | CA379810683 | OTOG | c.373T>C (p.Phe125Leu) c.337T>C (p.Phe113Leu) c.154T>C (p.Phe52Leu) n.243T>C | |
11 | g.17553163T>G | CA379810691 | OTOG | c.373T>G (p.Phe125Val) c.337T>G (p.Phe113Val) c.154T>G (p.Phe52Val) n.243T>G | |
11 | g.17553164T>A | CA379810698 | OTOG | c.374T>A (p.Phe125Tyr) c.338T>A (p.Phe113Tyr) c.155T>A (p.Phe52Tyr) n.244T>A | |
11 | g.17553164T>C | CA379810702 | OTOG | c.374T>C (p.Phe125Ser) c.338T>C (p.Phe113Ser) c.155T>C (p.Phe52Ser) n.244T>C | |
11 | g.17553164T>G | CA218489821 | OTOG | c.374T>G (p.Phe125Cys) c.338T>G (p.Phe113Cys) c.155T>G (p.Phe52Cys) n.244T>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553164T= | CA1955197616 | OTOG | c.374T= (p.Phe125=) c.338T= (p.Phe113=) c.155T= (p.Phe52=) n.244T= | |
11 | g.17553165C>A | CA379810707 | OTOG | c.375C>A (p.Phe125Leu) c.339C>A (p.Phe113Leu) c.156C>A (p.Phe52Leu) n.245C>A | |
11 | g.17553165C>G | CA379810705 | OTOG | c.375C>G (p.Phe125Leu) c.339C>G (p.Phe113Leu) c.156C>G (p.Phe52Leu) n.245C>G | |
11 | g.17553165C>T | CA473516701 | OTOG | c.375C>T (p.Phe125=) c.339C>T (p.Phe113=) c.156C>T (p.Phe52=) n.245C>T | gnomAD v4 |
11 | g.17553166T>A | CA379810712 | OTOG | c.376T>A (p.Cys126Ser) c.340T>A (p.Cys114Ser) c.157T>A (p.Cys53Ser) n.246T>A | |
11 | g.17553166T>C | CA379810714 | OTOG | c.376T>C (p.Cys126Arg) c.340T>C (p.Cys114Arg) c.157T>C (p.Cys53Arg) n.246T>C | gnomAD v4 |
11 | g.17553166T>G | CA379810718 | OTOG | c.376T>G (p.Cys126Gly) c.340T>G (p.Cys114Gly) c.157T>G (p.Cys53Gly) n.246T>G | dbSNP gnomAD v4 |
11 | g.17553166T= | CA1955197617 | OTOG | c.376T= (p.Cys126=) c.340T= (p.Cys114=) c.157T= (p.Cys53=) n.246T= | |
11 | g.17553167G>A | CA379810720 | OTOG | c.377G>A (p.Cys126Tyr) c.341G>A (p.Cys114Tyr) c.158G>A (p.Cys53Tyr) n.247G>A | |
11 | g.17553167G>C | CA379810723 | OTOG | c.377G>C (p.Cys126Ser) c.341G>C (p.Cys114Ser) c.158G>C (p.Cys53Ser) n.247G>C | |
11 | g.17553167G>T | CA379810724 | OTOG | c.377G>T (p.Cys126Phe) c.341G>T (p.Cys114Phe) c.158G>T (p.Cys53Phe) n.247G>T | |
11 | g.17553168T>A | CA379810725 | OTOG | c.378T>A (p.Cys126Ter) c.342T>A (p.Cys114Ter) c.159T>A (p.Cys53Ter) n.248T>A | |
11 | g.17553168T>C | CA473516702 | OTOG | c.378T>C (p.Cys126=) c.342T>C (p.Cys114=) c.159T>C (p.Cys53=) n.248T>C | |
11 | g.17553168T>G | CA379810726 | OTOG | c.378T>G (p.Cys126Trp) c.342T>G (p.Cys114Trp) c.159T>G (p.Cys53Trp) n.248T>G | |
11 | g.17553169G>A | CA379810728 | OTOG | c.379G>A (p.Asp127Asn) c.343G>A (p.Asp115Asn) c.160G>A (p.Asp54Asn) n.249G>A | |
11 | g.17553169G>C | CA379810730 | OTOG | c.379G>C (p.Asp127His) c.343G>C (p.Asp115His) c.160G>C (p.Asp54His) n.249G>C | |
11 | g.17553169G>T | CA379810733 | OTOG | c.379G>T (p.Asp127Tyr) c.343G>T (p.Asp115Tyr) c.160G>T (p.Asp54Tyr) n.249G>T | |
11 | g.17553170A>C | CA379810740 | OTOG | c.380A>C (p.Asp127Ala) c.344A>C (p.Asp115Ala) c.161A>C (p.Asp54Ala) n.250A>C | gnomAD v4 |
11 | g.17553170A>G | CA379810735 | OTOG | c.380A>G (p.Asp127Gly) c.344A>G (p.Asp115Gly) c.161A>G (p.Asp54Gly) n.250A>G | |
11 | g.17553170A>T | CA379810737 | OTOG | c.380A>T (p.Asp127Val) c.344A>T (p.Asp115Val) c.161A>T (p.Asp54Val) n.250A>T | |
11 | g.17553171C>A | CA379810743 | OTOG | c.381C>A (p.Asp127Glu) c.345C>A (p.Asp115Glu) c.162C>A (p.Asp54Glu) n.251C>A | |
11 | g.17553171C>G | CA379810745 | OTOG | c.381C>G (p.Asp127Glu) c.345C>G (p.Asp115Glu) c.162C>G (p.Asp54Glu) n.251C>G | |
11 | g.17553171C>T | CA473516703 | OTOG | c.381C>T (p.Asp127=) c.345C>T (p.Asp115=) c.162C>T (p.Asp54=) n.251C>T | |
11 | g.17553172T>A | CA379810749 | OTOG | c.382T>A (p.Cys128Ser) c.346T>A (p.Cys116Ser) c.163T>A (p.Cys55Ser) n.252T>A | |
11 | g.17553172T>C | CA379810751 | OTOG | c.382T>C (p.Cys128Arg) c.346T>C (p.Cys116Arg) c.163T>C (p.Cys55Arg) n.252T>C | |
11 | g.17553172T>G | CA379810756 | OTOG | c.382T>G (p.Cys128Gly) c.346T>G (p.Cys116Gly) c.163T>G (p.Cys55Gly) n.252T>G | gnomAD v4 |
11 | g.17553173G>A | CA379810759 | OTOG | c.383G>A (p.Cys128Tyr) c.347G>A (p.Cys116Tyr) c.164G>A (p.Cys55Tyr) n.253G>A | |
11 | g.17553173G>C | CA379810761 | OTOG | c.383G>C (p.Cys128Ser) c.347G>C (p.Cys116Ser) c.164G>C (p.Cys55Ser) n.253G>C | |
11 | g.17553173G>T | CA379810764 | OTOG | c.383G>T (p.Cys128Phe) c.347G>T (p.Cys116Phe) c.164G>T (p.Cys55Phe) n.253G>T | |
11 | g.17553174C>A | CA379810768 | OTOG | c.384C>A (p.Cys128Ter) c.348C>A (p.Cys116Ter) c.165C>A (p.Cys55Ter) n.254C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553174C= | CA1955197618 | OTOG | c.384C= (p.Cys128=) c.348C= (p.Cys116=) c.165C= (p.Cys55=) n.254C= | |
11 | g.17553174C>G | CA379810771 | OTOG | c.384C>G (p.Cys128Trp) c.348C>G (p.Cys116Trp) c.165C>G (p.Cys55Trp) n.254C>G | |
11 | g.17553174C>T | CA473516704 | OTOG | c.384C>T (p.Cys128=) c.348C>T (p.Cys116=) c.165C>T (p.Cys55=) n.254C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553175A>C | CA473516705 | OTOG | c.385A>C (p.Arg129=) c.349A>C (p.Arg117=) c.166A>C (p.Arg56=) n.255A>C | |
11 | g.17553175A>G | CA379810775 | OTOG | c.385A>G (p.Arg129Gly) c.349A>G (p.Arg117Gly) c.166A>G (p.Arg56Gly) n.255A>G | |
11 | g.17553175A>T | CA379810778 | OTOG | c.385A>T (p.Arg129Ter) c.349A>T (p.Arg117Ter) c.166A>T (p.Arg56Ter) n.255A>T | |
11 | g.17553176G>A | CA379810785 | OTOG | c.386G>A (p.Arg129Lys) c.350G>A (p.Arg117Lys) c.167G>A (p.Arg56Lys) n.256G>A | |
11 | g.17553176G>C | CA379810786 | OTOG | c.386G>C (p.Arg129Thr) c.350G>C (p.Arg117Thr) c.167G>C (p.Arg56Thr) n.256G>C | |
11 | g.17553176G>T | CA379810782 | OTOG | c.386G>T (p.Arg129Ile) c.350G>T (p.Arg117Ile) c.167G>T (p.Arg56Ile) n.256G>T | |
11 | g.17553177A>C | CA379810787 | OTOG | c.387A>C (p.Arg129Ser) c.351A>C (p.Arg117Ser) c.168A>C (p.Arg56Ser) n.257A>C | |
11 | g.17553177A>G | CA473516706 | OTOG | c.387A>G (p.Arg129=) c.351A>G (p.Arg117=) c.168A>G (p.Arg56=) n.257A>G | |
11 | g.17553177A>T | CA379810788 | OTOG | c.387A>T (p.Arg129Ser) c.351A>T (p.Arg117Ser) c.168A>T (p.Arg56Ser) n.257A>T | |
11 | g.17553178C>A | CA379810790 | OTOG | c.388C>A (p.Arg130Ser) c.352C>A (p.Arg118Ser) c.169C>A (p.Arg57Ser) n.258C>A | gnomAD v4 |
11 | g.17553178C= | CA1955197619 | OTOG | c.388C= (p.Arg130=) c.352C= (p.Arg118=) c.169C= (p.Arg57=) n.258C= | |
11 | g.17553178C>G | CA379810791 | OTOG | c.388C>G (p.Arg130Gly) c.352C>G (p.Arg118Gly) c.169C>G (p.Arg57Gly) n.258C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553178C>T | CA5905339 | OTOG | c.388C>T (p.Arg130Cys) c.352C>T (p.Arg118Cys) c.169C>T (p.Arg57Cys) n.258C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553179G>A | CA218489825 | OTOG | c.389G>A (p.Arg130His) c.353G>A (p.Arg118His) c.170G>A (p.Arg57His) n.259G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553179G>C | CA379810801 | OTOG | c.389G>C (p.Arg130Pro) c.353G>C (p.Arg118Pro) c.170G>C (p.Arg57Pro) n.259G>C | |
11 | g.17553179G= | CA1955197620 | OTOG | c.389G= (p.Arg130=) c.353G= (p.Arg118=) c.170G= (p.Arg57=) n.259G= | |
11 | g.17553179G>T | CA379810804 | OTOG | c.389G>T (p.Arg130Leu) c.353G>T (p.Arg118Leu) c.170G>T (p.Arg57Leu) n.259G>T | gnomAD v4 |
11 | g.17553180C>A | CA473516707 | OTOG | c.390C>A (p.Arg130=) c.354C>A (p.Arg118=) c.171C>A (p.Arg57=) n.260C>A | |
11 | g.17553180C>G | CA473516708 | OTOG | c.390C>G (p.Arg130=) c.354C>G (p.Arg118=) c.171C>G (p.Arg57=) n.260C>G | gnomAD v4 |
11 | g.17553180C>T | CA473516709 | OTOG | c.390C>T (p.Arg130=) c.354C>T (p.Arg118=) c.171C>T (p.Arg57=) n.260C>T | gnomAD v4 |
11 | g.17553181T>A | CA379810810 | OTOG | c.391T>A (p.Phe131Ile) c.355T>A (p.Phe119Ile) c.172T>A (p.Phe58Ile) n.261T>A | |
11 | g.17553181T>C | CA379810812 | OTOG | c.391T>C (p.Phe131Leu) c.355T>C (p.Phe119Leu) c.172T>C (p.Phe58Leu) n.261T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553181T>G | CA379810815 | OTOG | c.391T>G (p.Phe131Val) c.355T>G (p.Phe119Val) c.172T>G (p.Phe58Val) n.261T>G | |
11 | g.17553181T= | CA1955197621 | OTOG | c.391T= (p.Phe131=) c.355T= (p.Phe119=) c.172T= (p.Phe58=) n.261T= | |
11 | g.17553182T>A | CA379810820 | OTOG | c.392T>A (p.Phe131Tyr) c.356T>A (p.Phe119Tyr) c.173T>A (p.Phe58Tyr) n.262T>A | |
11 | g.17553182T>C | CA379810821 | OTOG | c.392T>C (p.Phe131Ser) c.356T>C (p.Phe119Ser) c.173T>C (p.Phe58Ser) n.262T>C | gnomAD v4 |
11 | g.17553182T>G | CA379810825 | OTOG | c.392T>G (p.Phe131Cys) c.356T>G (p.Phe119Cys) c.173T>G (p.Phe58Cys) n.262T>G | |
11 | g.17553183C>A | CA379810830 | OTOG | c.393C>A (p.Phe131Leu) c.357C>A (p.Phe119Leu) c.174C>A (p.Phe58Leu) n.263C>A | |
11 | g.17553183C>G | CA379810831 | OTOG | c.393C>G (p.Phe131Leu) c.357C>G (p.Phe119Leu) c.174C>G (p.Phe58Leu) n.263C>G | |
11 | g.17553183C>T | CA473516710 | OTOG | c.393C>T (p.Phe131=) c.357C>T (p.Phe119=) c.174C>T (p.Phe58=) n.263C>T | COSMIC |
11 | g.17553184A= | CA1955197622 | OTOG | c.394A= (p.Asn132=) c.358A= (p.Asn120=) c.175A= (p.Asn59=) n.264A= | |
11 | g.17553184A>C | CA379810847 | OTOG | c.394A>C (p.Asn132His) c.358A>C (p.Asn120His) c.175A>C (p.Asn59His) n.264A>C | |
11 | g.17553184A>G | CA5905340 | OTOG | c.394A>G (p.Asn132Asp) c.358A>G (p.Asn120Asp) c.175A>G (p.Asn59Asp) n.264A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17553184A>T | CA379810853 | OTOG | c.394A>T (p.Asn132Tyr) c.358A>T (p.Asn120Tyr) c.175A>T (p.Asn59Tyr) n.264A>T | |
11 | g.17553185A>C | CA379810859 | OTOG | c.395A>C (p.Asn132Thr) c.359A>C (p.Asn120Thr) c.176A>C (p.Asn59Thr) n.265A>C | |
11 | g.17553185A>G | CA379810863 | OTOG | c.395A>G (p.Asn132Ser) c.359A>G (p.Asn120Ser) c.176A>G (p.Asn59Ser) n.265A>G | |
11 | g.17553185A>T | CA379810866 | OTOG | c.395A>T (p.Asn132Ile) c.359A>T (p.Asn120Ile) c.176A>T (p.Asn59Ile) n.265A>T | |
11 | g.17553186T>A | CA379810867 | OTOG | c.396T>A (p.Asn132Lys) c.360T>A (p.Asn120Lys) c.177T>A (p.Asn59Lys) n.266T>A | |
11 | g.17553186T>C | CA473516711 | OTOG | c.396T>C (p.Asn132=) c.360T>C (p.Asn120=) c.177T>C (p.Asn59=) n.266T>C | |
11 | g.17553186T>G | CA379810875 | OTOG | c.396T>G (p.Asn132Lys) c.360T>G (p.Asn120Lys) c.177T>G (p.Asn59Lys) n.266T>G | |
11 | g.17553187G>A | CA379810877 | OTOG | c.397G>A (p.Ala133Thr) c.361G>A (p.Ala121Thr) c.178G>A (p.Ala60Thr) n.267G>A | |
11 | g.17553187G>C | CA379810880 | OTOG | c.397G>C (p.Ala133Pro) c.361G>C (p.Ala121Pro) c.178G>C (p.Ala60Pro) n.267G>C | |
11 | g.17553187G>T | CA379810882 | OTOG | c.397G>T (p.Ala133Ser) c.361G>T (p.Ala121Ser) c.178G>T (p.Ala60Ser) n.267G>T | |
11 | g.17553188C>A | CA379810886 | OTOG | c.398C>A (p.Ala133Asp) c.362C>A (p.Ala121Asp) c.179C>A (p.Ala60Asp) n.268C>A | |
11 | g.17553188C= | CA1955197623 | OTOG | c.398C= (p.Ala133=) c.362C= (p.Ala121=) c.179C= (p.Ala60=) n.268C= | |
11 | g.17553188C>G | CA379810888 | OTOG | c.398C>G (p.Ala133Gly) c.362C>G (p.Ala121Gly) c.179C>G (p.Ala60Gly) n.268C>G | |
11 | g.17553188C>T | CA379810892 | OTOG | c.398C>T (p.Ala133Val) c.362C>T (p.Ala121Val) c.179C>T (p.Ala60Val) n.268C>T | dbSNP gnomAD v2 |
11 | g.17553189C>A | CA473516712 | OTOG | c.399C>A (p.Ala133=) c.363C>A (p.Ala121=) c.180C>A (p.Ala60=) n.269C>A | |
11 | g.17553189C>G | CA473516714 | OTOG | c.399C>G (p.Ala133=) c.363C>G (p.Ala121=) c.180C>G (p.Ala60=) n.269C>G | |
11 | g.17553189C>T | CA473516713 | OTOG | c.399C>T (p.Ala133=) c.363C>T (p.Ala121=) c.180C>T (p.Ala60=) n.269C>T | |
11 | g.17553190A= | CA1955197624 | OTOG | c.400A= (p.Thr134=) c.364A= (p.Thr122=) c.181A= (p.Thr61=) n.270A= | |
11 | g.17553190A>C | CA379810911 | OTOG | c.400A>C (p.Thr134Pro) c.364A>C (p.Thr122Pro) c.181A>C (p.Thr61Pro) n.270A>C | |
11 | g.17553190A>G | CA218489850 | OTOG | c.400A>G (p.Thr134Ala) c.364A>G (p.Thr122Ala) c.181A>G (p.Thr61Ala) n.270A>G | dbSNP |
11 | g.17553190A>T | CA379810907 | OTOG | c.400A>T (p.Thr134Ser) c.364A>T (p.Thr122Ser) c.181A>T (p.Thr61Ser) n.270A>T | |
11 | g.17553191C>A | CA379810915 | OTOG | c.401C>A (p.Thr134Asn) c.365C>A (p.Thr122Asn) c.182C>A (p.Thr61Asn) n.271C>A | |
11 | g.17553191C= | CA1955197625 | OTOG | c.401C= (p.Thr134=) c.365C= (p.Thr122=) c.182C= (p.Thr61=) n.271C= | |
11 | g.17553191C>G | CA379810913 | OTOG | c.401C>G (p.Thr134Ser) c.365C>G (p.Thr122Ser) c.182C>G (p.Thr61Ser) n.271C>G | |
11 | g.17553191C>T | CA379810918 | OTOG | c.401C>T (p.Thr134Ile) c.365C>T (p.Thr122Ile) c.182C>T (p.Thr61Ile) n.271C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553192T>A | CA473516715 | OTOG | c.402T>A (p.Thr134=) c.366T>A (p.Thr122=) c.183T>A (p.Thr61=) n.272T>A | |
11 | g.17553192T>C | CA473516716 | OTOG | c.402T>C (p.Thr134=) c.366T>C (p.Thr122=) c.183T>C (p.Thr61=) n.272T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553192T>G | CA473516717 | OTOG | c.402T>G (p.Thr134=) c.366T>G (p.Thr122=) c.183T>G (p.Thr61=) n.272T>G | |
11 | g.17553192T= | CA1955197626 | OTOG | c.402T= (p.Thr134=) c.366T= (p.Thr122=) c.183T= (p.Thr61=) n.272T= | |
11 | g.17553193G>A | CA379810922 | OTOG | c.403G>A (p.Gly135Arg) c.367G>A (p.Gly123Arg) c.184G>A (p.Gly62Arg) n.273G>A | |
11 | g.17553193G>C | CA379810924 | OTOG | c.403G>C (p.Gly135Arg) c.367G>C (p.Gly123Arg) c.184G>C (p.Gly62Arg) n.273G>C | |
11 | g.17553193G>T | CA379810926 | OTOG | c.403G>T (p.Gly135Ter) c.367G>T (p.Gly123Ter) c.184G>T (p.Gly62Ter) n.273G>T | gnomAD v4 |
11 | g.17553194G>A | CA5905341 | OTOG | c.404G>A (p.Gly135Glu) c.368G>A (p.Gly123Glu) c.185G>A (p.Gly62Glu) n.274G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553194G>C | CA379810932 | OTOG | c.404G>C (p.Gly135Ala) c.368G>C (p.Gly123Ala) c.185G>C (p.Gly62Ala) n.274G>C | |
11 | g.17553194G= | CA1955197627 | OTOG | c.404G= (p.Gly135=) c.368G= (p.Gly123=) c.185G= (p.Gly62=) n.274G= | |
11 | g.17553194G>T | CA379810934 | OTOG | c.404G>T (p.Gly135Val) c.368G>T (p.Gly123Val) c.185G>T (p.Gly62Val) n.274G>T | |
11 | g.17553195A= | CA1955197628 | OTOG | c.405A= (p.Gly135=) c.369A= (p.Gly123=) c.186A= (p.Gly62=) n.275A= | |
11 | g.17553195A>C | CA473516718 | OTOG | c.405A>C (p.Gly135=) c.369A>C (p.Gly123=) c.186A>C (p.Gly62=) n.275A>C | |
11 | g.17553195A>G | CA473516719 | OTOG | c.405A>G (p.Gly135=) c.369A>G (p.Gly123=) c.186A>G (p.Gly62=) n.275A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553195A>T | CA473516720 | OTOG | c.405A>T (p.Gly135=) c.369A>T (p.Gly123=) c.186A>T (p.Gly62=) n.275A>T | |
11 | g.17553196C>A | CA379810939 | OTOG | c.406C>A (p.Pro136Thr) c.370C>A (p.Pro124Thr) c.187C>A (p.Pro63Thr) n.276C>A | dbSNP gnomAD v2 |
11 | g.17553196C= | CA1955197629 | OTOG | c.406C= (p.Pro136=) c.370C= (p.Pro124=) c.187C= (p.Pro63=) n.276C= | |
11 | g.17553196C>G | CA379810942 | OTOG | c.406C>G (p.Pro136Ala) c.370C>G (p.Pro124Ala) c.187C>G (p.Pro63Ala) n.276C>G | |
11 | g.17553196C>T | CA379810944 | OTOG | c.406C>T (p.Pro136Ser) c.370C>T (p.Pro124Ser) c.187C>T (p.Pro63Ser) n.276C>T | gnomAD v4 |
11 | g.17553197del | CA2612679357 | OTOG | c.407del (p.Pro136ArgfsTer?) c.371del (p.Pro124ArgfsTer?) c.188del (p.Pro63ArgfsTer?) n.277del | gnomAD v4 |
11 | g.17553197C>A | CA379810945 | OTOG | c.407C>A (p.Pro136Gln) c.371C>A (p.Pro124Gln) c.188C>A (p.Pro63Gln) n.277C>A | |
11 | g.17553197C= | CA1955197630 | OTOG | c.407C= (p.Pro136=) c.371C= (p.Pro124=) c.188C= (p.Pro63=) n.277C= | |
11 | g.17553197C>G | CA379810947 | OTOG | c.407C>G (p.Pro136Arg) c.371C>G (p.Pro124Arg) c.188C>G (p.Pro63Arg) n.277C>G | |
11 | g.17553197C>T | CA5905342 | OTOG | c.407C>T (p.Pro136Leu) c.371C>T (p.Pro124Leu) c.188C>T (p.Pro63Leu) n.277C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553198G>A | CA5905343 | OTOG | c.408G>A (p.Pro136=) c.372G>A (p.Pro124=) c.189G>A (p.Pro63=) n.278G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553198G>C | CA473516722 | OTOG | c.408G>C (p.Pro136=) c.372G>C (p.Pro124=) c.189G>C (p.Pro63=) n.278G>C | |
11 | g.17553198G= | CA1955197631 | OTOG | c.408G= (p.Pro136=) c.372G= (p.Pro124=) c.189G= (p.Pro63=) n.278G= | |
11 | g.17553198G>T | CA473516721 | OTOG | c.408G>T (p.Pro136=) c.372G>T (p.Pro124=) c.189G>T (p.Pro63=) n.278G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553199C>A | CA379810954 | OTOG | c.409C>A (p.Arg137Ser) c.373C>A (p.Arg125Ser) c.190C>A (p.Arg64Ser) n.279C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17553199C= | CA1955197632 | OTOG | c.409C= (p.Arg137=) c.373C= (p.Arg125=) c.190C= (p.Arg64=) n.279C= | |
11 | g.17553199C>G | CA379810951 | OTOG | c.409C>G (p.Arg137Gly) c.373C>G (p.Arg125Gly) c.190C>G (p.Arg64Gly) n.279C>G | |
11 | g.17553199C>T | CA218489864 | OTOG | c.409C>T (p.Arg137Cys) c.373C>T (p.Arg125Cys) c.190C>T (p.Arg64Cys) n.279C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17553200G>A | CA379810956 | OTOG | c.410G>A (p.Arg137His) c.374G>A (p.Arg125His) c.191G>A (p.Arg64His) n.280G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17553200G>C | CA379810958 | OTOG | c.410G>C (p.Arg137Pro) c.374G>C (p.Arg125Pro) c.191G>C (p.Arg64Pro) n.280G>C | |
11 | g.17553200G= | CA1955197633 | OTOG | c.410G= (p.Arg137=) c.374G= (p.Arg125=) c.191G= (p.Arg64=) n.280G= | |
11 | g.17553200G>T | CA379810960 | OTOG | c.410G>T (p.Arg137Leu) c.374G>T (p.Arg125Leu) c.191G>T (p.Arg64Leu) n.280G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17553200dup | CA2612679363 | OTOG | c.410dup (p.Cys138LeufsTer10) c.374dup (p.Cys126LeufsTer10) c.191dup (p.Cys65LeufsTer10) n.280dup | gnomAD v4 |
11 | g.17553201C>A | CA473516723 | OTOG | c.411C>A (p.Arg137=) c.375C>A (p.Arg125=) c.192C>A (p.Arg64=) n.281C>A | |
11 | g.17553201C>G | CA473516724 | OTOG | c.411C>G (p.Arg137=) c.375C>G (p.Arg125=) c.192C>G (p.Arg64=) n.281C>G | |
11 | g.17553201C>T | CA473516725 | OTOG | c.411C>T (p.Arg137=) c.375C>T (p.Arg125=) c.192C>T (p.Arg64=) n.281C>T |