| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17642100C= | CA1955240398 | OTOG | c.8332-27C= (n.8332-27C=) c.8296-27C= (n.8296-27C=) | |
| 11 | g.17642100C>G | CA935548973 | OTOG | c.8332-27C>G (n.8332-27C>G) c.8296-27C>G (n.8296-27C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642100C>T | CA674260998 | OTOG | c.8332-27C>T (n.8332-27C>T) c.8296-27C>T (n.8296-27C>T) | dbSNP gnomAD v4 |
| 11 | g.17642101C= | CA1955240399 | OTOG | c.8332-26C= (n.8332-26C=) c.8296-26C= (n.8296-26C=) | |
| 11 | g.17642101C>T | CA2612690619 | OTOG | c.8332-26C>T (n.8332-26C>T) c.8296-26C>T (n.8296-26C>T) | gnomAD v4 |
| 11 | g.17642101_17642102insA | CA1955240400 | OTOG | c.8332-26_8332-25insA (n.8332-26_8332-25insA) c.8296-26_8296-25insA (n.8296-26_8296-25insA) | dbSNP |
| 11 | g.17642102C>A | CA2612690622 | OTOG | c.8332-25C>A (n.8332-25C>A) c.8296-25C>A (n.8296-25C>A) | gnomAD v4 |
| 11 | g.17642102C>T | CA2612690623 | OTOG | c.8332-25C>T (n.8332-25C>T) c.8296-25C>T (n.8296-25C>T) | gnomAD v4 |
| 11 | g.17642103A= | CA1955240401 | OTOG | c.8332-24A= (n.8332-24A=) c.8296-24A= (n.8296-24A=) | |
| 11 | g.17642103A>C | CA597905171 | OTOG | c.8332-24A>C (n.8332-24A>C) c.8296-24A>C (n.8296-24A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642103A>G | CA597905172 | OTOG | c.8332-24A>G (n.8332-24A>G) c.8296-24A>G (n.8296-24A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642104T>C | CA2612690624 | OTOG | c.8332-23T>C (n.8332-23T>C) c.8296-23T>C (n.8296-23T>C) | gnomAD v4 |
| 11 | g.17642107C>A | CA2612690625 | OTOG | c.8332-20C>A (n.8332-20C>A) c.8296-20C>A (n.8296-20C>A) | gnomAD v4 |
| 11 | g.17642107C= | CA1955240402 | OTOG | c.8332-20C= (n.8332-20C=) c.8296-20C= (n.8296-20C=) | |
| 11 | g.17642107C>T | CA218456803 | OTOG | c.8332-20C>T (n.8332-20C>T) c.8296-20C>T (n.8296-20C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642108C>A | CA597905173 | OTOG | c.8332-19C>A (n.8332-19C>A) c.8296-19C>A (n.8296-19C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642108C= | CA1955240403 | OTOG | c.8332-19C= (n.8332-19C=) c.8296-19C= (n.8296-19C=) | |
| 11 | g.17642109T>A | CA597905174 | OTOG | c.8332-18T>A (n.8332-18T>A) c.8296-18T>A (n.8296-18T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642109T>C | CA2723099011 | OTOG | c.8332-18T>C (n.8332-18T>C) c.8296-18T>C (n.8296-18T>C) | dbSNP |
| 11 | g.17642109T>G | CA674261019 | OTOG | c.8332-18T>G (n.8332-18T>G) c.8296-18T>G (n.8296-18T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642109T= | CA1955240404 | OTOG | c.8332-18T= (n.8332-18T=) c.8296-18T= (n.8296-18T=) | |
| 11 | g.17642110A= | CA1955240405 | OTOG | c.8332-17A= (n.8332-17A=) c.8296-17A= (n.8296-17A=) | |
| 11 | g.17642110A>G | CA5906267 | OTOG | c.8332-17A>G (n.8332-17A>G) c.8296-17A>G (n.8296-17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642111C>T | CA2612690628 | OTOG | c.8332-16C>T (n.8332-16C>T) c.8296-16C>T (n.8296-16C>T) | gnomAD v4 |
| 11 | g.17642111_17642112delinsCT | CA1955240406 | OTOG | c.8332-16_8332-15delinsCT (n.8332-16_8332-15delinsCT) c.8296-16_8296-15delinsCT (n.8296-16_8296-15delinsCT) | |
| 11 | g.17642112T>A | CA2790598663 | OTOG | c.8332-15T>A (n.8332-15T>A) c.8296-15T>A (n.8296-15T>A) | |
| 11 | g.17642112T>C | CA597905175 | OTOG | c.8332-15T>C (n.8332-15T>C) c.8296-15T>C (n.8296-15T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642112T= | CA1955240407 | OTOG | c.8332-15T= (n.8332-15T=) c.8296-15T= (n.8296-15T=) | |
| 11 | g.17642113del | CA674261027 | OTOG | c.8332-14del (n.8332-14del) c.8296-14del (n.8296-14del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642114C= | CA1955240408 | OTOG | c.8332-13C= (n.8332-13C=) c.8296-13C= (n.8296-13C=) | |
| 11 | g.17642114C>T | CA597905176 | OTOG | c.8332-13C>T (n.8332-13C>T) c.8296-13C>T (n.8296-13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642116G>A | CA2612690632 | OTOG | c.8332-11G>A (n.8332-11G>A) c.8296-11G>A (n.8296-11G>A) | gnomAD v4 |
| 11 | g.17642117T>C | CA2612690634 | OTOG | c.8332-10T>C (n.8332-10T>C) c.8296-10T>C (n.8296-10T>C) | gnomAD v4 |
| 11 | g.17642118G= | CA1955240409 | OTOG | c.8332-9G= (n.8332-9G=) c.8296-9G= (n.8296-9G=) | |
| 11 | g.17642118G>T | CA597905177 | OTOG | c.8332-9G>T (n.8332-9G>T) c.8296-9G>T (n.8296-9G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642118_17642119delinsTT | CA2573146181 | OTOG | c.8332-9_8332-8delinsTT (n.8332-9_8332-8delinsTT) c.8296-9_8296-8delinsTT (n.8296-9_8296-8delinsTT) | ClinVar dbSNP |
| 11 | g.17642119C>A | CA597905178 | OTOG | c.8332-8C>A (n.8332-8C>A) c.8296-8C>A (n.8296-8C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642119C= | CA1955240410 | OTOG | c.8332-8C= (n.8332-8C=) c.8296-8C= (n.8296-8C=) | |
| 11 | g.17642119C>T | CA597905179 | OTOG | c.8332-8C>T (n.8332-8C>T) c.8296-8C>T (n.8296-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642120C= | CA1955240411 | OTOG | c.8332-7C= (n.8332-7C=) c.8296-7C= (n.8296-7C=) | |
| 11 | g.17642120C>T | CA1955240412 | OTOG | c.8332-7C>T (n.8332-7C>T) c.8296-7C>T (n.8296-7C>T) | dbSNP |
| 11 | g.17642121C>A | CA2612690644 | OTOG | c.8332-6C>A (n.8332-6C>A) c.8296-6C>A (n.8296-6C>A) | gnomAD v4 |
| 11 | g.17642121C>T | CA2612690645 | OTOG | c.8332-6C>T (n.8332-6C>T) c.8296-6C>T (n.8296-6C>T) | gnomAD v4 |
| 11 | g.17642122T>C | CA2612690647 | OTOG | c.8332-5T>C (n.8332-5T>C) c.8296-5T>C (n.8296-5T>C) | gnomAD v4 |
| 11 | g.17642123C>G | CA2612690648 | OTOG | c.8332-4C>G (n.8332-4C>G) c.8296-4C>G (n.8296-4C>G) | gnomAD v4 |
| 11 | g.17642124C= | CA1955240413 | OTOG | c.8332-3C= (n.8332-3C=) c.8296-3C= (n.8296-3C=) | |
| 11 | g.17642124C>T | CA597905180 | OTOG | c.8332-3C>T (n.8332-3C>T) c.8296-3C>T (n.8296-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642125A>C | CA379786252 | OTOG | c.8332-2A>C (n.8332-2A>C) c.8296-2A>C (n.8296-2A>C) | |
| 11 | g.17642125A>G | CA379786256 | OTOG | c.8332-2A>G (n.8332-2A>G) c.8296-2A>G (n.8296-2A>G) | |
| 11 | g.17642125A>T | CA379786255 | OTOG | c.8332-2A>T (n.8332-2A>T) c.8296-2A>T (n.8296-2A>T) | |
| 11 | g.17642126G>A | CA218456809 | OTOG | c.8332-1G>A (n.8332-1G>A) c.8296-1G>A (n.8296-1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642126G>C | CA379786259 | OTOG | c.8332-1G>C (n.8332-1G>C) c.8296-1G>C (n.8296-1G>C) | |
| 11 | g.17642126G= | CA1955240414 | OTOG | c.8332-1G= (n.8332-1G=) c.8296-1G= (n.8296-1G=) | |
| 11 | g.17642126G>T | CA379786260 | OTOG | c.8332-1G>T (n.8332-1G>T) c.8296-1G>T (n.8296-1G>T) | |
| 11 | g.17642127C>A | CA379786262 | OTOG | c.8332C>A (p.Pro2778Thr) c.8296C>A (p.Pro2766Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642127C= | CA1955240415 | OTOG | c.8332C= (p.Pro2778=) c.8296C= (p.Pro2766=) | |
| 11 | g.17642127C>G | CA379786275 | OTOG | c.8332C>G (p.Pro2778Ala) c.8296C>G (p.Pro2766Ala) | |
| 11 | g.17642127C>T | CA379786276 | OTOG | c.8332C>T (p.Pro2778Ser) c.8296C>T (p.Pro2766Ser) | gnomAD v4 |
| 11 | g.17642128C>A | CA379786277 | OTOG | c.8333C>A (p.Pro2778His) c.8297C>A (p.Pro2766His) | gnomAD v4 |
| 11 | g.17642128C>G | CA379786278 | OTOG | c.8333C>G (p.Pro2778Arg) c.8297C>G (p.Pro2766Arg) | |
| 11 | g.17642128C>T | CA379786283 | OTOG | c.8333C>T (p.Pro2778Leu) c.8297C>T (p.Pro2766Leu) | gnomAD v4 |
| 11 | g.17642129C>A | CA5906269 | OTOG | c.8334C>A (p.Pro2778=) c.8298C>A (p.Pro2766=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642129C= | CA1955240416 | OTOG | c.8334C= (p.Pro2778=) c.8298C= (p.Pro2766=) | |
| 11 | g.17642129C>G | CA473299995 | OTOG | c.8334C>G (p.Pro2778=) c.8298C>G (p.Pro2766=) | |
| 11 | g.17642129C>T | CA5906268 | OTOG | c.8334C>T (p.Pro2778=) c.8298C>T (p.Pro2766=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642130G>A | CA218456816 | OTOG | c.8335G>A (p.Gly2779Arg) c.8299G>A (p.Gly2767Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642130G>C | CA379786312 | OTOG | c.8335G>C (p.Gly2779Arg) c.8299G>C (p.Gly2767Arg) | gnomAD v4 |
| 11 | g.17642130G= | CA1955240417 | OTOG | c.8335G= (p.Gly2779=) c.8299G= (p.Gly2767=) | |
| 11 | g.17642130G>T | CA379786320 | OTOG | c.8335G>T (p.Gly2779Trp) c.8299G>T (p.Gly2767Trp) | |
| 11 | g.17642133del | CA2612690676 | OTOG | c.8338del (p.Ala2780HisfsTer26) c.8302del (p.Ala2768HisfsTer26) | gnomAD v4 |
| 11 | g.17642131G>A | CA379786321 | OTOG | c.8336G>A (p.Gly2779Glu) c.8300G>A (p.Gly2767Glu) | gnomAD v4 |
| 11 | g.17642131G>C | CA379786322 | OTOG | c.8336G>C (p.Gly2779Ala) c.8300G>C (p.Gly2767Ala) | |
| 11 | g.17642131G>T | CA379786325 | OTOG | c.8336G>T (p.Gly2779Val) c.8300G>T (p.Gly2767Val) | gnomAD v4 |
| 11 | g.17642132G>A | CA473300004 | OTOG | c.8337G>A (p.Gly2779=) c.8301G>A (p.Gly2767=) | gnomAD v4 |
| 11 | g.17642132G>C | CA473300001 | OTOG | c.8337G>C (p.Gly2779=) c.8301G>C (p.Gly2767=) | |
| 11 | g.17642132G>T | CA473300003 | OTOG | c.8337G>T (p.Gly2779=) c.8301G>T (p.Gly2767=) | |
| 11 | g.17642133G>A | CA379786327 | OTOG | c.8338G>A (p.Ala2780Thr) c.8302G>A (p.Ala2768Thr) | gnomAD v4 |
| 11 | g.17642133G>C | CA379786328 | OTOG | c.8338G>C (p.Ala2780Pro) c.8302G>C (p.Ala2768Pro) | |
| 11 | g.17642133G>T | CA379786329 | OTOG | c.8338G>T (p.Ala2780Ser) c.8302G>T (p.Ala2768Ser) | |
| 11 | g.17642134C>A | CA379786331 | OTOG | c.8339C>A (p.Ala2780Glu) c.8303C>A (p.Ala2768Glu) | gnomAD v4 |
| 11 | g.17642134C>G | CA379786333 | OTOG | c.8339C>G (p.Ala2780Gly) c.8303C>G (p.Ala2768Gly) | |
| 11 | g.17642134C>T | CA379786338 | OTOG | c.8339C>T (p.Ala2780Val) c.8303C>T (p.Ala2768Val) | gnomAD v4 |
| 11 | g.17642135A>C | CA473300010 | OTOG | c.8340A>C (p.Ala2780=) c.8304A>C (p.Ala2768=) | |
| 11 | g.17642135A>G | CA473300012 | OTOG | c.8340A>G (p.Ala2780=) c.8304A>G (p.Ala2768=) | |
| 11 | g.17642135A>T | CA473300013 | OTOG | c.8340A>T (p.Ala2780=) c.8304A>T (p.Ala2768=) | |
| 11 | g.17642136T>A | CA379786343 | OTOG | c.8341T>A (p.Ser2781Thr) c.8305T>A (p.Ser2769Thr) | |
| 11 | g.17642136T>C | CA379786339 | OTOG | c.8341T>C (p.Ser2781Pro) c.8305T>C (p.Ser2769Pro) | gnomAD v4 |
| 11 | g.17642136T>G | CA379786340 | OTOG | c.8341T>G (p.Ser2781Ala) c.8305T>G (p.Ser2769Ala) | |
| 11 | g.17642137C>A | CA379786369 | OTOG | c.8342C>A (p.Ser2781Tyr) c.8306C>A (p.Ser2769Tyr) | |
| 11 | g.17642137C= | CA1955240418 | OTOG | c.8342C= (p.Ser2781=) c.8306C= (p.Ser2769=) | |
| 11 | g.17642137C>G | CA379786373 | OTOG | c.8342C>G (p.Ser2781Cys) c.8306C>G (p.Ser2769Cys) | |
| 11 | g.17642137C>T | CA379786392 | OTOG | c.8342C>T (p.Ser2781Phe) c.8306C>T (p.Ser2769Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.17642138C>A | CA473300019 | OTOG | c.8343C>A (p.Ser2781=) c.8307C>A (p.Ser2769=) | gnomAD v4 |
| 11 | g.17642138C>G | CA473300022 | OTOG | c.8343C>G (p.Ser2781=) c.8307C>G (p.Ser2769=) | |
| 11 | g.17642138C>T | CA473300024 | OTOG | c.8343C>T (p.Ser2781=) c.8307C>T (p.Ser2769=) | |
| 11 | g.17642139T>A | CA379786396 | OTOG | c.8344T>A (p.Trp2782Arg) c.8308T>A (p.Trp2770Arg) | |
| 11 | g.17642139T>C | CA379786398 | OTOG | c.8344T>C (p.Trp2782Arg) c.8308T>C (p.Trp2770Arg) | gnomAD v4 |
| 11 | g.17642139T>G | CA379786404 | OTOG | c.8344T>G (p.Trp2782Gly) c.8308T>G (p.Trp2770Gly) | |
| 11 | g.17642140G>A | CA379786411 | OTOG | c.8345G>A (p.Trp2782Ter) c.8309G>A (p.Trp2770Ter) | |
| 11 | g.17642140G>C | CA379786415 | OTOG | c.8345G>C (p.Trp2782Ser) c.8309G>C (p.Trp2770Ser) | |
| 11 | g.17642140G>T | CA379786419 | OTOG | c.8345G>T (p.Trp2782Leu) c.8309G>T (p.Trp2770Leu) | COSMIC COSMIC |
| 11 | g.17642141G>A | CA379786421 | OTOG | c.8346G>A (p.Trp2782Ter) c.8310G>A (p.Trp2770Ter) | |
| 11 | g.17642141G>C | CA379786422 | OTOG | c.8346G>C (p.Trp2782Cys) c.8310G>C (p.Trp2770Cys) | gnomAD v4 |
| 11 | g.17642141G>T | CA379786426 | OTOG | c.8346G>T (p.Trp2782Cys) c.8310G>T (p.Trp2770Cys) | |
| 11 | g.17642142A>C | CA379786430 | OTOG | c.8347A>C (p.Ile2783Leu) c.8311A>C (p.Ile2771Leu) | |
| 11 | g.17642142A>G | CA379786433 | OTOG | c.8347A>G (p.Ile2783Val) c.8311A>G (p.Ile2771Val) | |
| 11 | g.17642142A>T | CA379786429 | OTOG | c.8347A>T (p.Ile2783Phe) c.8311A>T (p.Ile2771Phe) | |
| 11 | g.17642143T>A | CA379786438 | OTOG | c.8348T>A (p.Ile2783Asn) c.8312T>A (p.Ile2771Asn) | |
| 11 | g.17642143T>C | CA379786439 | OTOG | c.8348T>C (p.Ile2783Thr) c.8312T>C (p.Ile2771Thr) | |
| 11 | g.17642143T>G | CA379786440 | OTOG | c.8348T>G (p.Ile2783Ser) c.8312T>G (p.Ile2771Ser) | |
| 11 | g.17642144C>A | CA473300040 | OTOG | c.8349C>A (p.Ile2783=) c.8313C>A (p.Ile2771=) | |
| 11 | g.17642144C= | CA1955240419 | OTOG | c.8349C= (p.Ile2783=) c.8313C= (p.Ile2771=) | |
| 11 | g.17642144C>G | CA379786444 | OTOG | c.8349C>G (p.Ile2783Met) c.8313C>G (p.Ile2771Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642144C>T | CA473300042 | OTOG | c.8349C>T (p.Ile2783=) c.8313C>T (p.Ile2771=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642145G>A | CA5906270 | OTOG | c.8350G>A (p.Ala2784Thr) c.8314G>A (p.Ala2772Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642145G>C | CA379786450 | OTOG | c.8350G>C (p.Ala2784Pro) c.8314G>C (p.Ala2772Pro) | |
| 11 | g.17642145G= | CA1955240420 | OTOG | c.8350G= (p.Ala2784=) c.8314G= (p.Ala2772=) | |
| 11 | g.17642145G>T | CA218456820 | OTOG | c.8350G>T (p.Ala2784Ser) c.8314G>T (p.Ala2772Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642146C>A | CA379786454 | OTOG | c.8351C>A (p.Ala2784Glu) c.8315C>A (p.Ala2772Glu) | gnomAD v4 |
| 11 | g.17642146C>G | CA379786456 | OTOG | c.8351C>G (p.Ala2784Gly) c.8315C>G (p.Ala2772Gly) | |
| 11 | g.17642146C>T | CA379786459 | OTOG | c.8351C>T (p.Ala2784Val) c.8315C>T (p.Ala2772Val) | |
| 11 | g.17642147A= | CA1955240421 | OTOG | c.8352A= (p.Ala2784=) c.8316A= (p.Ala2772=) | |
| 11 | g.17642147A>C | CA473300048 | OTOG | c.8352A>C (p.Ala2784=) c.8316A>C (p.Ala2772=) | |
| 11 | g.17642147A>G | CA473300051 | OTOG | c.8352A>G (p.Ala2784=) c.8316A>G (p.Ala2772=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642147A>T | CA473300052 | OTOG | c.8352A>T (p.Ala2784=) c.8316A>T (p.Ala2772=) | |
| 11 | g.17642148G>A | CA379786465 | OTOG | c.8353G>A (p.Asp2785Asn) c.8317G>A (p.Asp2773Asn) | |
| 11 | g.17642148G>C | CA379786467 | OTOG | c.8353G>C (p.Asp2785His) c.8317G>C (p.Asp2773His) | |
| 11 | g.17642148G>T | CA379786470 | OTOG | c.8353G>T (p.Asp2785Tyr) c.8317G>T (p.Asp2773Tyr) | |
| 11 | g.17642149A= | CA1955240422 | OTOG | c.8354A= (p.Asp2785=) c.8318A= (p.Asp2773=) | |
| 11 | g.17642149A>C | CA379786478 | OTOG | c.8354A>C (p.Asp2785Ala) c.8318A>C (p.Asp2773Ala) | dbSNP |
| 11 | g.17642149A>G | CA379786477 | OTOG | c.8354A>G (p.Asp2785Gly) c.8318A>G (p.Asp2773Gly) | gnomAD v4 |
| 11 | g.17642149A>T | CA379786474 | OTOG | c.8354A>T (p.Asp2785Val) c.8318A>T (p.Asp2773Val) | |
| 11 | g.17642150C>A | CA379786480 | OTOG | c.8355C>A (p.Asp2785Glu) c.8319C>A (p.Asp2773Glu) | |
| 11 | g.17642150C>G | CA379786485 | OTOG | c.8355C>G (p.Asp2785Glu) c.8319C>G (p.Asp2773Glu) | |
| 11 | g.17642150C>T | CA473300065 | OTOG | c.8355C>T (p.Asp2785=) c.8319C>T (p.Asp2773=) | |
| 11 | g.17642151T>A | CA379786488 | OTOG | c.8356T>A (p.Cys2786Ser) c.8320T>A (p.Cys2774Ser) | |
| 11 | g.17642151T>C | CA379786512 | OTOG | c.8356T>C (p.Cys2786Arg) c.8320T>C (p.Cys2774Arg) | gnomAD v4 |
| 11 | g.17642151T>G | CA379786515 | OTOG | c.8356T>G (p.Cys2786Gly) c.8320T>G (p.Cys2774Gly) | |
| 11 | g.17642152G>A | CA379786519 | OTOG | c.8357G>A (p.Cys2786Tyr) c.8321G>A (p.Cys2774Tyr) | gnomAD v4 |
| 11 | g.17642152G>C | CA379786523 | OTOG | c.8357G>C (p.Cys2786Ser) c.8321G>C (p.Cys2774Ser) | |
| 11 | g.17642152G>T | CA379786524 | OTOG | c.8357G>T (p.Cys2786Phe) c.8321G>T (p.Cys2774Phe) | |
| 11 | g.17642153C>A | CA379786525 | OTOG | c.8358C>A (p.Cys2786Ter) c.8322C>A (p.Cys2774Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642153C= | CA1955240423 | OTOG | c.8358C= (p.Cys2786=) c.8322C= (p.Cys2774=) | |
| 11 | g.17642153C>G | CA379786527 | OTOG | c.8358C>G (p.Cys2786Trp) c.8322C>G (p.Cys2774Trp) | |
| 11 | g.17642153C>T | CA5906271 | OTOG | c.8358C>T (p.Cys2786=) c.8322C>T (p.Cys2774=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642154G>A | CA5906273 | OTOG | c.8359G>A (p.Ala2787Thr) c.8323G>A (p.Ala2775Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17642154G>C | CA5906272 | OTOG | c.8359G>C (p.Ala2787Pro) c.8323G>C (p.Ala2775Pro) | dbSNP ExAC |
| 11 | g.17642154G= | CA1955240424 | OTOG | c.8359G= (p.Ala2787=) c.8323G= (p.Ala2775=) | |
| 11 | g.17642154G>T | CA379786561 | OTOG | c.8359G>T (p.Ala2787Ser) c.8323G>T (p.Ala2775Ser) | dbSNP gnomAD v4 |
| 11 | g.17642155C>A | CA379786573 | OTOG | c.8360C>A (p.Ala2787Asp) c.8324C>A (p.Ala2775Asp) | |
| 11 | g.17642155C= | CA1955240425 | OTOG | c.8360C= (p.Ala2787=) c.8324C= (p.Ala2775=) | |
| 11 | g.17642155C>G | CA5906274 | OTOG | c.8360C>G (p.Ala2787Gly) c.8324C>G (p.Ala2775Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17642155C>T | CA379786565 | OTOG | c.8360C>T (p.Ala2787Val) c.8324C>T (p.Ala2775Val) | gnomAD v4 |
| 11 | g.17642156C>A | CA473300082 | OTOG | c.8361C>A (p.Ala2787=) c.8325C>A (p.Ala2775=) | |
| 11 | g.17642156C= | CA1955240426 | OTOG | c.8361C= (p.Ala2787=) c.8325C= (p.Ala2775=) | |
| 11 | g.17642156C>G | CA473300083 | OTOG | c.8361C>G (p.Ala2787=) c.8325C>G (p.Ala2775=) | |
| 11 | g.17642156C>T | CA473300084 | OTOG | c.8361C>T (p.Ala2787=) c.8325C>T (p.Ala2775=) | dbSNP gnomAD v4 |
| 11 | g.17642157C>A | CA379786580 | OTOG | c.8362C>A (p.Arg2788Ser) c.8326C>A (p.Arg2776Ser) | COSMIC |
| 11 | g.17642157C= | CA1955240427 | OTOG | c.8362C= (p.Arg2788=) c.8326C= (p.Arg2776=) | |
| 11 | g.17642157C>G | CA379786581 | OTOG | c.8362C>G (p.Arg2788Gly) c.8326C>G (p.Arg2776Gly) | |
| 11 | g.17642157C>T | CA218456831 | OTOG | c.8362C>T (p.Arg2788Cys) c.8326C>T (p.Arg2776Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642158G>A | CA5906275 | OTOG | c.8363G>A (p.Arg2788His) c.8327G>A (p.Arg2776His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642158G>C | CA379786586 | OTOG | c.8363G>C (p.Arg2788Pro) c.8327G>C (p.Arg2776Pro) | |
| 11 | g.17642158G= | CA1955240428 | OTOG | c.8363G= (p.Arg2788=) c.8327G= (p.Arg2776=) | |
| 11 | g.17642158G>T | CA379786593 | OTOG | c.8363G>T (p.Arg2788Leu) c.8327G>T (p.Arg2776Leu) | gnomAD v4 |
| 11 | g.17642159C>A | CA473300093 | OTOG | c.8364C>A (p.Arg2788=) c.8328C>A (p.Arg2776=) | |
| 11 | g.17642159C>G | CA473300095 | OTOG | c.8364C>G (p.Arg2788=) c.8328C>G (p.Arg2776=) | |
| 11 | g.17642159C>T | CA473300096 | OTOG | c.8364C>T (p.Arg2788=) c.8328C>T (p.Arg2776=) | gnomAD v4 |
| 11 | g.17642160C>A | CA379786609 | OTOG | c.8365C>A (p.His2789Asn) c.8329C>A (p.His2777Asn) | |
| 11 | g.17642160C= | CA1955240429 | OTOG | c.8365C= (p.His2789=) c.8329C= (p.His2777=) | |
| 11 | g.17642160C>G | CA379786598 | OTOG | c.8365C>G (p.His2789Asp) c.8329C>G (p.His2777Asp) | |
| 11 | g.17642160C>T | CA218456836 | OTOG | c.8365C>T (p.His2789Tyr) c.8329C>T (p.His2777Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642161A>C | CA379786613 | OTOG | c.8366A>C (p.His2789Pro) c.8330A>C (p.His2777Pro) | |
| 11 | g.17642161A>G | CA379786619 | OTOG | c.8366A>G (p.His2789Arg) c.8330A>G (p.His2777Arg) | |
| 11 | g.17642161A>T | CA379786628 | OTOG | c.8366A>T (p.His2789Leu) c.8330A>T (p.His2777Leu) | |
| 11 | g.17642162C>A | CA379786631 | OTOG | c.8367C>A (p.His2789Gln) c.8331C>A (p.His2777Gln) | |
| 11 | g.17642162C= | CA1955240430 | OTOG | c.8367C= (p.His2789=) c.8331C= (p.His2777=) | |
| 11 | g.17642162C>G | CA379786632 | OTOG | c.8367C>G (p.His2789Gln) c.8331C>G (p.His2777Gln) | |
| 11 | g.17642162C>T | CA473300103 | OTOG | c.8367C>T (p.His2789=) c.8331C>T (p.His2777=) | dbSNP gnomAD v4 |
| 11 | g.17642163C>A | CA379786635 | OTOG | c.8368C>A (p.His2790Asn) c.8332C>A (p.His2778Asn) | |
| 11 | g.17642163C= | CA1955240431 | OTOG | c.8368C= (p.His2790=) c.8332C= (p.His2778=) | |
| 11 | g.17642163C>G | CA379786639 | OTOG | c.8368C>G (p.His2790Asp) c.8332C>G (p.His2778Asp) | |
| 11 | g.17642163C>T | CA379786636 | OTOG | c.8368C>T (p.His2790Tyr) c.8332C>T (p.His2778Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642164A>C | CA379786640 | OTOG | c.8369A>C (p.His2790Pro) c.8333A>C (p.His2778Pro) | |
| 11 | g.17642164A>G | CA379786641 | OTOG | c.8369A>G (p.His2790Arg) c.8333A>G (p.His2778Arg) | |
| 11 | g.17642164A>T | CA379786642 | OTOG | c.8369A>T (p.His2790Leu) c.8333A>T (p.His2778Leu) | |
| 11 | g.17642165C>A | CA379786646 | OTOG | c.8370C>A (p.His2790Gln) c.8334C>A (p.His2778Gln) | gnomAD v4 |
| 11 | g.17642165C>G | CA379786649 | OTOG | c.8370C>G (p.His2790Gln) c.8334C>G (p.His2778Gln) | gnomAD v4 |
| 11 | g.17642165C>T | CA473300111 | OTOG | c.8370C>T (p.His2790=) c.8334C>T (p.His2778=) | |
| 11 | g.17642166T>A | CA379786658 | OTOG | c.8371T>A (p.Cys2791Ser) c.8335T>A (p.Cys2779Ser) | |
| 11 | g.17642166T>C | CA379786674 | OTOG | c.8371T>C (p.Cys2791Arg) c.8335T>C (p.Cys2779Arg) | |
| 11 | g.17642166T>G | CA379786679 | OTOG | c.8371T>G (p.Cys2791Gly) c.8335T>G (p.Cys2779Gly) | |
| 11 | g.17642167G>A | CA379786683 | OTOG | c.8372G>A (p.Cys2791Tyr) c.8336G>A (p.Cys2779Tyr) | |
| 11 | g.17642167G>C | CA379786689 | OTOG | c.8372G>C (p.Cys2791Ser) c.8336G>C (p.Cys2779Ser) | |
| 11 | g.17642167G= | CA1955240432 | OTOG | c.8372G= (p.Cys2791=) c.8336G= (p.Cys2779=) | |
| 11 | g.17642167G>T | CA218456838 | OTOG | c.8372G>T (p.Cys2791Phe) c.8336G>T (p.Cys2779Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642168C>A | CA379786699 | OTOG | c.8373C>A (p.Cys2791Ter) c.8337C>A (p.Cys2779Ter) | |
| 11 | g.17642168C>G | CA379786702 | OTOG | c.8373C>G (p.Cys2791Trp) c.8337C>G (p.Cys2779Trp) | |
| 11 | g.17642168C>T | CA473300121 | OTOG | c.8373C>T (p.Cys2791=) c.8337C>T (p.Cys2779=) | |
| 11 | g.17642169A= | CA1955240433 | OTOG | c.8374A= (p.Ser2792=) c.8338A= (p.Ser2780=) | |
| 11 | g.17642169A>C | CA379786708 | OTOG | c.8374A>C (p.Ser2792Arg) c.8338A>C (p.Ser2780Arg) | dbSNP |
| 11 | g.17642169A>G | CA379786712 | OTOG | c.8374A>G (p.Ser2792Gly) c.8338A>G (p.Ser2780Gly) | |
| 11 | g.17642169A>T | CA379786716 | OTOG | c.8374A>T (p.Ser2792Cys) c.8338A>T (p.Ser2780Cys) | |
| 11 | g.17642170G>A | CA379786722 | OTOG | c.8375G>A (p.Ser2792Asn) c.8339G>A (p.Ser2780Asn) | gnomAD v4 |
| 11 | g.17642170G>C | CA379786723 | OTOG | c.8375G>C (p.Ser2792Thr) c.8339G>C (p.Ser2780Thr) | |
| 11 | g.17642170G>T | CA379786725 | OTOG | c.8375G>T (p.Ser2792Ile) c.8339G>T (p.Ser2780Ile) | |
| 11 | g.17642171C>A | CA379786729 | OTOG | c.8376C>A (p.Ser2792Arg) c.8340C>A (p.Ser2780Arg) | |
| 11 | g.17642171C>G | CA379786731 | OTOG | c.8376C>G (p.Ser2792Arg) c.8340C>G (p.Ser2780Arg) | |
| 11 | g.17642171C>T | CA473300131 | OTOG | c.8376C>T (p.Ser2792=) c.8340C>T (p.Ser2780=) | |
| 11 | g.17642172A>C | CA379786736 | OTOG | c.8377A>C (p.Ser2793Arg) c.8341A>C (p.Ser2781Arg) | |
| 11 | g.17642172A>G | CA379786742 | OTOG | c.8377A>G (p.Ser2793Gly) c.8341A>G (p.Ser2781Gly) | |
| 11 | g.17642172A>T | CA379786739 | OTOG | c.8377A>T (p.Ser2793Cys) c.8341A>T (p.Ser2781Cys) | |
| 11 | g.17642173G>A | CA379786746 | OTOG | c.8378G>A (p.Ser2793Asn) c.8342G>A (p.Ser2781Asn) | |
| 11 | g.17642173G>C | CA5906276 | OTOG | c.8378G>C (p.Ser2793Thr) c.8342G>C (p.Ser2781Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642173G= | CA1955240434 | OTOG | c.8378G= (p.Ser2793=) c.8342G= (p.Ser2781=) | |
| 11 | g.17642173G>T | CA379786748 | OTOG | c.8378G>T (p.Ser2793Ile) c.8342G>T (p.Ser2781Ile) | |
| 11 | g.17642174C>A | CA379786753 | OTOG | c.8379C>A (p.Ser2793Arg) c.8343C>A (p.Ser2781Arg) | |
| 11 | g.17642174C>G | CA379786763 | OTOG | c.8379C>G (p.Ser2793Arg) c.8343C>G (p.Ser2781Arg) | |
| 11 | g.17642174C>T | CA473300138 | OTOG | c.8379C>T (p.Ser2793=) c.8343C>T (p.Ser2781=) | |
| 11 | g.17642175A>C | CA379786769 | OTOG | c.8380A>C (p.Thr2794Pro) c.8344A>C (p.Thr2782Pro) | |
| 11 | g.17642175A>G | CA379786772 | OTOG | c.8380A>G (p.Thr2794Ala) c.8344A>G (p.Thr2782Ala) | |
| 11 | g.17642175A>T | CA379786771 | OTOG | c.8380A>T (p.Thr2794Ser) c.8344A>T (p.Thr2782Ser) | |
| 11 | g.17642176C>A | CA218456841 | OTOG | c.8381C>A (p.Thr2794Lys) c.8345C>A (p.Thr2782Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642176C= | CA1955240435 | OTOG | c.8381C= (p.Thr2794=) c.8345C= (p.Thr2782=) | |
| 11 | g.17642176C>G | CA379786792 | OTOG | c.8381C>G (p.Thr2794Arg) c.8345C>G (p.Thr2782Arg) | |
| 11 | g.17642176C>T | CA5906277 | OTOG | c.8381C>T (p.Thr2794Met) c.8345C>T (p.Thr2782Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642177G>A | CA5906278 | OTOG | c.8382G>A (p.Thr2794=) c.8346G>A (p.Thr2782=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642177G>C | CA473300144 | OTOG | c.8382G>C (p.Thr2794=) c.8346G>C (p.Thr2782=) | dbSNP gnomAD v4 |
| 11 | g.17642177G= | CA1955240436 | OTOG | c.8382G= (p.Thr2794=) c.8346G= (p.Thr2782=) | |
| 11 | g.17642177G>T | CA473300143 | OTOG | c.8382G>T (p.Thr2794=) c.8346G>T (p.Thr2782=) | gnomAD v4 |
| 11 | g.17642178C>A | CA379786824 | OTOG | c.8383C>A (p.Pro2795Thr) c.8347C>A (p.Pro2783Thr) | dbSNP gnomAD v4 |
| 11 | g.17642178C= | CA1955240437 | OTOG | c.8383C= (p.Pro2795=) c.8347C= (p.Pro2783=) | |
| 11 | g.17642178C>G | CA379786830 | OTOG | c.8383C>G (p.Pro2795Ala) c.8347C>G (p.Pro2783Ala) | |
| 11 | g.17642178C>T | CA379786836 | OTOG | c.8383C>T (p.Pro2795Ser) c.8347C>T (p.Pro2783Ser) | |
| 11 | g.17642179C>A | CA5906279 | OTOG | c.8384C>A (p.Pro2795His) c.8348C>A (p.Pro2783His) | dbSNP ExAC gnomAD v2 |
| 11 | g.17642179C= | CA1955240438 | OTOG | c.8384C= (p.Pro2795=) c.8348C= (p.Pro2783=) | |
| 11 | g.17642179C>G | CA379786842 | OTOG | c.8384C>G (p.Pro2795Arg) c.8348C>G (p.Pro2783Arg) | |
| 11 | g.17642179C>T | CA379786843 | OTOG | c.8384C>T (p.Pro2795Leu) c.8348C>T (p.Pro2783Leu) | dbSNP |
| 11 | g.17642180C>A | CA473300149 | OTOG | c.8385C>A (p.Pro2795=) c.8349C>A (p.Pro2783=) | |
| 11 | g.17642180C= | CA1955240439 | OTOG | c.8385C= (p.Pro2795=) c.8349C= (p.Pro2783=) | |
| 11 | g.17642180C>G | CA473300151 | OTOG | c.8385C>G (p.Pro2795=) c.8349C>G (p.Pro2783=) | |
| 11 | g.17642180C>T | CA473300150 | OTOG | c.8385C>T (p.Pro2795=) c.8349C>T (p.Pro2783=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642181C>A | CA379786847 | OTOG | c.8386C>A (p.Leu2796Met) c.8350C>A (p.Leu2784Met) | |
| 11 | g.17642181C>G | CA379786851 | OTOG | c.8386C>G (p.Leu2796Val) c.8350C>G (p.Leu2784Val) | |
| 11 | g.17642181C>T | CA473300153 | OTOG | c.8386C>T (p.Leu2796=) c.8350C>T (p.Leu2784=) | |
| 11 | g.17642182T>A | CA379786855 | OTOG | c.8387T>A (p.Leu2796Gln) c.8351T>A (p.Leu2784Gln) | |
| 11 | g.17642182T>C | CA379786860 | OTOG | c.8387T>C (p.Leu2796Pro) c.8351T>C (p.Leu2784Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642182T>G | CA379786856 | OTOG | c.8387T>G (p.Leu2796Arg) c.8351T>G (p.Leu2784Arg) | |
| 11 | g.17642182T= | CA1955240440 | OTOG | c.8387T= (p.Leu2796=) c.8351T= (p.Leu2784=) | |
| 11 | g.17642183G>A | CA473300156 | OTOG | c.8388G>A (p.Leu2796=) c.8352G>A (p.Leu2784=) | dbSNP gnomAD v4 |
| 11 | g.17642183G>C | CA473300158 | OTOG | c.8388G>C (p.Leu2796=) c.8352G>C (p.Leu2784=) | dbSNP |
| 11 | g.17642183G= | CA1955240441 | OTOG | c.8388G= (p.Leu2796=) c.8352G= (p.Leu2784=) | |
| 11 | g.17642183G>T | CA473300159 | OTOG | c.8388G>T (p.Leu2796=) c.8352G>T (p.Leu2784=) | |
| 11 | g.17642184G>A | CA379786869 | OTOG | c.8389G>A (p.Gly2797Ser) c.8353G>A (p.Gly2785Ser) | |
| 11 | g.17642184G>C | CA379786871 | OTOG | c.8389G>C (p.Gly2797Arg) c.8353G>C (p.Gly2785Arg) | |
| 11 | g.17642184G= | CA1955240442 | OTOG | c.8389G= (p.Gly2797=) c.8353G= (p.Gly2785=) | |
| 11 | g.17642184G>T | CA379786875 | OTOG | c.8389G>T (p.Gly2797Cys) c.8353G>T (p.Gly2785Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642185G>A | CA218456850 | OTOG | c.8390G>A (p.Gly2797Asp) c.8354G>A (p.Gly2785Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642185G>C | CA379786902 | OTOG | c.8390G>C (p.Gly2797Ala) c.8354G>C (p.Gly2785Ala) | |
| 11 | g.17642185G= | CA1955240443 | OTOG | c.8390G= (p.Gly2797=) c.8354G= (p.Gly2785=) | |
| 11 | g.17642185G>T | CA379786906 | OTOG | c.8390G>T (p.Gly2797Val) c.8354G>T (p.Gly2785Val) | gnomAD v4 |
| 11 | g.17642186T>A | CA473300161 | OTOG | c.8391T>A (p.Gly2797=) c.8355T>A (p.Gly2785=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642186T>C | CA473300162 | OTOG | c.8391T>C (p.Gly2797=) c.8355T>C (p.Gly2785=) | dbSNP |
| 11 | g.17642186T>G | CA473300163 | OTOG | c.8391T>G (p.Gly2797=) c.8355T>G (p.Gly2785=) | |
| 11 | g.17642186T= | CA1955240444 | OTOG | c.8391T= (p.Gly2797=) c.8355T= (p.Gly2785=) | |
| 11 | g.17642187G>A | CA379786907 | OTOG | c.8392G>A (p.Ala2798Thr) c.8356G>A (p.Ala2786Thr) | |
| 11 | g.17642187G>C | CA379786910 | OTOG | c.8392G>C (p.Ala2798Pro) c.8356G>C (p.Ala2786Pro) | gnomAD v4 |
| 11 | g.17642187G>T | CA379786914 | OTOG | c.8392G>T (p.Ala2798Ser) c.8356G>T (p.Ala2786Ser) | gnomAD v4 |
| 11 | g.17642188C>A | CA379786936 | OTOG | c.8393C>A (p.Ala2798Asp) c.8357C>A (p.Ala2786Asp) | |
| 11 | g.17642188C>G | CA379786946 | OTOG | c.8393C>G (p.Ala2798Gly) c.8357C>G (p.Ala2786Gly) | gnomAD v4 |
| 11 | g.17642188C>T | CA379786948 | OTOG | c.8393C>T (p.Ala2798Val) c.8357C>T (p.Ala2786Val) | gnomAD v4 |
| 11 | g.17642189C>A | CA473300168 | OTOG | c.8394C>A (p.Ala2798=) c.8358C>A (p.Ala2786=) | |
| 11 | g.17642189C= | CA1955240445 | OTOG | c.8394C= (p.Ala2798=) c.8358C= (p.Ala2786=) | |
| 11 | g.17642189C>G | CA473300169 | OTOG | c.8394C>G (p.Ala2798=) c.8358C>G (p.Ala2786=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17642189C>T | CA5906280 | OTOG | c.8394C>T (p.Ala2798=) c.8358C>T (p.Ala2786=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642190G>A | CA379786963 | OTOG | c.8395G>A (p.Val2799Met) c.8359G>A (p.Val2787Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642190G>C | CA379786959 | OTOG | c.8395G>C (p.Val2799Leu) c.8359G>C (p.Val2787Leu) | |
| 11 | g.17642190G= | CA1955240446 | OTOG | c.8395G= (p.Val2799=) c.8359G= (p.Val2787=) | |
| 11 | g.17642190G>T | CA379786961 | OTOG | c.8395G>T (p.Val2799Leu) c.8359G>T (p.Val2787Leu) | |
| 11 | g.17642191T>A | CA379786968 | OTOG | c.8396T>A (p.Val2799Glu) c.8360T>A (p.Val2787Glu) | |
| 11 | g.17642191T>C | CA379786973 | OTOG | c.8396T>C (p.Val2799Ala) c.8360T>C (p.Val2787Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642191T>G | CA379786980 | OTOG | c.8396T>G (p.Val2799Gly) c.8360T>G (p.Val2787Gly) | |
| 11 | g.17642191T= | CA1955240447 | OTOG | c.8396T= (p.Val2799=) c.8360T= (p.Val2787=) | |
| 11 | g.17642192del | CA2741153419 | OTOG | c.8397del (p.Leu2800TrpfsTer6) c.8361del (p.Leu2788TrpfsTer6) | |
| 11 | g.17642192G>A | CA473300171 | OTOG | c.8397G>A (p.Val2799=) c.8361G>A (p.Val2787=) | |
| 11 | g.17642192G>C | CA473300172 | OTOG | c.8397G>C (p.Val2799=) c.8361G>C (p.Val2787=) | |
| 11 | g.17642192G>T | CA473300174 | OTOG | c.8397G>T (p.Val2799=) c.8361G>T (p.Val2787=) | |
| 11 | g.17642193C>A | CA218456855 | OTOG | c.8398C>A (p.Leu2800Met) c.8362C>A (p.Leu2788Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642193C= | CA1955240448 | OTOG | c.8398C= (p.Leu2800=) c.8362C= (p.Leu2788=) | |
| 11 | g.17642193C>G | CA379786988 | OTOG | c.8398C>G (p.Leu2800Val) c.8362C>G (p.Leu2788Val) | |
| 11 | g.17642193C>T | CA473300175 | OTOG | c.8398C>T (p.Leu2800=) c.8362C>T (p.Leu2788=) | |
| 11 | g.17642194T>A | CA379786994 | OTOG | c.8399T>A (p.Leu2800Gln) c.8363T>A (p.Leu2788Gln) | |
| 11 | g.17642194T>C | CA379786998 | OTOG | c.8399T>C (p.Leu2800Pro) c.8363T>C (p.Leu2788Pro) | |
| 11 | g.17642194T>G | CA379786999 | OTOG | c.8399T>G (p.Leu2800Arg) c.8363T>G (p.Leu2788Arg) | |
| 11 | g.17642195G>A | CA473300177 | OTOG | c.8400G>A (p.Leu2800=) c.8364G>A (p.Leu2788=) | |
| 11 | g.17642195G>C | CA5906281 | OTOG | c.8400G>C (p.Leu2800=) c.8364G>C (p.Leu2788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642195G= | CA1955240449 | OTOG | c.8400G= (p.Leu2800=) c.8364G= (p.Leu2788=) | |
| 11 | g.17642195G>T | CA473300178 | OTOG | c.8400G>T (p.Leu2800=) c.8364G>T (p.Leu2788=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17642196G>A | CA218456859 | OTOG | c.8401G>A (p.Val2801Ile) c.8365G>A (p.Val2789Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642196G>C | CA379787009 | OTOG | c.8401G>C (p.Val2801Leu) c.8365G>C (p.Val2789Leu) | gnomAD v4 |
| 11 | g.17642196G= | CA1955240450 | OTOG | c.8401G= (p.Val2801=) c.8365G= (p.Val2789=) | |
| 11 | g.17642196G>T | CA218456860 | OTOG | c.8401G>T (p.Val2801Phe) c.8365G>T (p.Val2789Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642197T>A | CA379787028 | OTOG | c.8402T>A (p.Val2801Asp) c.8366T>A (p.Val2789Asp) | |
| 11 | g.17642197T>C | CA379787032 | OTOG | c.8402T>C (p.Val2801Ala) c.8366T>C (p.Val2789Ala) | |
| 11 | g.17642197T>G | CA379787030 | OTOG | c.8402T>G (p.Val2801Gly) c.8366T>G (p.Val2789Gly) | gnomAD v4 |
| 11 | g.17642198C>A | CA473300182 | OTOG | c.8403C>A (p.Val2801=) c.8367C>A (p.Val2789=) | gnomAD v4 |
| 11 | g.17642198C>G | CA473300183 | OTOG | c.8403C>G (p.Val2801=) c.8367C>G (p.Val2789=) | |
| 11 | g.17642198C>T | CA473300184 | OTOG | c.8403C>T (p.Val2801=) c.8367C>T (p.Val2789=) | |
| 11 | g.17642199C>A | CA379787041 | OTOG | c.8404C>A (p.Arg2802Ser) c.8368C>A (p.Arg2790Ser) | gnomAD v4 |
| 11 | g.17642199C= | CA1955240451 | OTOG | c.8404C= (p.Arg2802=) c.8368C= (p.Arg2790=) | |
| 11 | g.17642199C>G | CA379787053 | OTOG | c.8404C>G (p.Arg2802Gly) c.8368C>G (p.Arg2790Gly) | dbSNP gnomAD v4 |
| 11 | g.17642199C>T | CA218456861 | OTOG | c.8404C>T (p.Arg2802Cys) c.8368C>T (p.Arg2790Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642200G>A | CA5906282 | OTOG | c.8405G>A (p.Arg2802His) c.8369G>A (p.Arg2790His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17642200G>C | CA379787070 | OTOG | c.8405G>C (p.Arg2802Pro) c.8369G>C (p.Arg2790Pro) | |
| 11 | g.17642200G= | CA1955240452 | OTOG | c.8405G= (p.Arg2802=) c.8369G= (p.Arg2790=) | |
| 11 | g.17642200G>T | CA379787074 | OTOG | c.8405G>T (p.Arg2802Leu) c.8369G>T (p.Arg2790Leu) |