Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17632129C>A | CA473310105 | OTOG | c.7011C>A (p.Thr2337=) c.6975C>A (p.Thr2325=) c.4029C>A (p.Thr1343=) | |
11 | g.17632129C= | CA1955235505 | OTOG | c.7011C= (p.Thr2337=) c.6975C= (p.Thr2325=) c.4029C= (p.Thr1343=) | |
11 | g.17632129C>G | CA473310106 | OTOG | c.7011C>G (p.Thr2337=) c.6975C>G (p.Thr2325=) c.4029C>G (p.Thr1343=) | |
11 | g.17632129C>T | CA218496193 | OTOG | c.7011C>T (p.Thr2337=) c.6975C>T (p.Thr2325=) c.4029C>T (p.Thr1343=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632130A>C | CA379810466 | OTOG | c.7012A>C (p.Lys2338Gln) c.6976A>C (p.Lys2326Gln) c.4030A>C (p.Lys1344Gln) | |
11 | g.17632130A>G | CA379810469 | OTOG | c.7012A>G (p.Lys2338Glu) c.6976A>G (p.Lys2326Glu) c.4030A>G (p.Lys1344Glu) | |
11 | g.17632130A>T | CA379810471 | OTOG | c.7012A>T (p.Lys2338Ter) c.6976A>T (p.Lys2326Ter) c.4030A>T (p.Lys1344Ter) | |
11 | g.17632131A>C | CA379810473 | OTOG | c.7013A>C (p.Lys2338Thr) c.6977A>C (p.Lys2326Thr) c.4031A>C (p.Lys1344Thr) | |
11 | g.17632131A>G | CA379810474 | OTOG | c.7013A>G (p.Lys2338Arg) c.6977A>G (p.Lys2326Arg) c.4031A>G (p.Lys1344Arg) | |
11 | g.17632131A>T | CA379810477 | OTOG | c.7013A>T (p.Lys2338Met) c.6977A>T (p.Lys2326Met) c.4031A>T (p.Lys1344Met) | |
11 | g.17632132G>A | CA473310107 | OTOG | c.7014G>A (p.Lys2338=) c.6978G>A (p.Lys2326=) c.4032G>A (p.Lys1344=) | |
11 | g.17632132G>C | CA379810479 | OTOG | c.7014G>C (p.Lys2338Asn) c.6978G>C (p.Lys2326Asn) c.4032G>C (p.Lys1344Asn) | |
11 | g.17632132G>T | CA379810482 | OTOG | c.7014G>T (p.Lys2338Asn) c.6978G>T (p.Lys2326Asn) c.4032G>T (p.Lys1344Asn) | |
11 | g.17632133T>A | CA379810487 | OTOG | c.7015T>A (p.Tyr2339Asn) c.6979T>A (p.Tyr2327Asn) c.4033T>A (p.Tyr1345Asn) | |
11 | g.17632133T>C | CA379810486 | OTOG | c.7015T>C (p.Tyr2339His) c.6979T>C (p.Tyr2327His) c.4033T>C (p.Tyr1345His) | |
11 | g.17632133T>G | CA379810485 | OTOG | c.7015T>G (p.Tyr2339Asp) c.6979T>G (p.Tyr2327Asp) c.4033T>G (p.Tyr1345Asp) | |
11 | g.17632134A>C | CA379810490 | OTOG | c.7016A>C (p.Tyr2339Ser) c.6980A>C (p.Tyr2327Ser) c.4034A>C (p.Tyr1345Ser) | |
11 | g.17632134A>G | CA379810497 | OTOG | c.7016A>G (p.Tyr2339Cys) c.6980A>G (p.Tyr2327Cys) c.4034A>G (p.Tyr1345Cys) | |
11 | g.17632134A>T | CA379810498 | OTOG | c.7016A>T (p.Tyr2339Phe) c.6980A>T (p.Tyr2327Phe) c.4034A>T (p.Tyr1345Phe) | |
11 | g.17632135C>A | CA379810501 | OTOG | c.7017C>A (p.Tyr2339Ter) c.6981C>A (p.Tyr2327Ter) c.4035C>A (p.Tyr1345Ter) | |
11 | g.17632135C= | CA1955235506 | OTOG | c.7017C= (p.Tyr2339=) c.6981C= (p.Tyr2327=) c.4035C= (p.Tyr1345=) | |
11 | g.17632135C>G | CA379810502 | OTOG | c.7017C>G (p.Tyr2339Ter) c.6981C>G (p.Tyr2327Ter) c.4035C>G (p.Tyr1345Ter) | |
11 | g.17632135C>T | CA5906080 | OTOG | c.7017C>T (p.Tyr2339=) c.6981C>T (p.Tyr2327=) c.4035C>T (p.Tyr1345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632136G>A | CA379810505 | OTOG | c.7018G>A (p.Val2340Met) c.6982G>A (p.Val2328Met) c.4036G>A (p.Val1346Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632136G>C | CA379810506 | OTOG | c.7018G>C (p.Val2340Leu) c.6982G>C (p.Val2328Leu) c.4036G>C (p.Val1346Leu) | |
11 | g.17632136G= | CA1955235507 | OTOG | c.7018G= (p.Val2340=) c.6982G= (p.Val2328=) c.4036G= (p.Val1346=) | |
11 | g.17632136G>T | CA379810508 | OTOG | c.7018G>T (p.Val2340Leu) c.6982G>T (p.Val2328Leu) c.4036G>T (p.Val1346Leu) | dbSNP gnomAD v4 |
11 | g.17632137T>A | CA379810509 | OTOG | c.7019T>A (p.Val2340Glu) c.6983T>A (p.Val2328Glu) c.4037T>A (p.Val1346Glu) | |
11 | g.17632137T>C | CA379810510 | OTOG | c.7019T>C (p.Val2340Ala) c.6983T>C (p.Val2328Ala) c.4037T>C (p.Val1346Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632137T>G | CA379810513 | OTOG | c.7019T>G (p.Val2340Gly) c.6983T>G (p.Val2328Gly) c.4037T>G (p.Val1346Gly) | |
11 | g.17632137T= | CA1955235508 | OTOG | c.7019T= (p.Val2340=) c.6983T= (p.Val2328=) c.4037T= (p.Val1346=) | |
11 | g.17632138G>A | CA473310108 | OTOG | c.7020G>A (p.Val2340=) c.6984G>A (p.Val2328=) c.4038G>A (p.Val1346=) | gnomAD v4 |
11 | g.17632138G>C | CA473310109 | OTOG | c.7020G>C (p.Val2340=) c.6984G>C (p.Val2328=) c.4038G>C (p.Val1346=) | |
11 | g.17632138G>T | CA473310110 | OTOG | c.7020G>T (p.Val2340=) c.6984G>T (p.Val2328=) c.4038G>T (p.Val1346=) | |
11 | g.17632139C>A | CA379810516 | OTOG | c.7021C>A (p.Gln2341Lys) c.6985C>A (p.Gln2329Lys) c.4039C>A (p.Gln1347Lys) | |
11 | g.17632139C= | CA1955235509 | OTOG | c.7021C= (p.Gln2341=) c.6985C= (p.Gln2329=) c.4039C= (p.Gln1347=) | |
11 | g.17632139C>G | CA379810518 | OTOG | c.7021C>G (p.Gln2341Glu) c.6985C>G (p.Gln2329Glu) c.4039C>G (p.Gln1347Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17632139C>T | CA379810514 | OTOG | c.7021C>T (p.Gln2341Ter) c.6985C>T (p.Gln2329Ter) c.4039C>T (p.Gln1347Ter) | |
11 | g.17632140A= | CA1955235510 | OTOG | c.7022A= (p.Gln2341=) c.6986A= (p.Gln2329=) c.4040A= (p.Gln1347=) | |
11 | g.17632140A>C | CA379810519 | OTOG | c.7022A>C (p.Gln2341Pro) c.6986A>C (p.Gln2329Pro) c.4040A>C (p.Gln1347Pro) | |
11 | g.17632140A>G | CA379810522 | OTOG | c.7022A>G (p.Gln2341Arg) c.6986A>G (p.Gln2329Arg) c.4040A>G (p.Gln1347Arg) | dbSNP |
11 | g.17632140A>T | CA379810524 | OTOG | c.7022A>T (p.Gln2341Leu) c.6986A>T (p.Gln2329Leu) c.4040A>T (p.Gln1347Leu) | |
11 | g.17632141G>A | CA473310111 | OTOG | c.7023G>A (p.Gln2341=) c.6987G>A (p.Gln2329=) c.4041G>A (p.Gln1347=) | |
11 | g.17632141G>C | CA379810526 | OTOG | c.7023G>C (p.Gln2341His) c.6987G>C (p.Gln2329His) c.4041G>C (p.Gln1347His) | |
11 | g.17632141G>T | CA379810527 | OTOG | c.7023G>T (p.Gln2341His) c.6987G>T (p.Gln2329His) c.4041G>T (p.Gln1347His) | |
11 | g.17632143_17632150del | CA2612688553 | OTOG | c.7025_7032del (p.Gln2342ArgfsTer23) c.6989_6996del (p.Gln2330ArgfsTer23) c.4043_4050del (p.Gln1348ArgfsTer23) | gnomAD v4 |
11 | g.17632142C>A | CA379810530 | OTOG | c.7024C>A (p.Gln2342Lys) c.6988C>A (p.Gln2330Lys) c.4042C>A (p.Gln1348Lys) | |
11 | g.17632142C>G | CA379810528 | OTOG | c.7024C>G (p.Gln2342Glu) c.6988C>G (p.Gln2330Glu) c.4042C>G (p.Gln1348Glu) | |
11 | g.17632142C>T | CA379810529 | OTOG | c.7024C>T (p.Gln2342Ter) c.6988C>T (p.Gln2330Ter) c.4042C>T (p.Gln1348Ter) | |
11 | g.17632143A>C | CA379810532 | OTOG | c.7025A>C (p.Gln2342Pro) c.6989A>C (p.Gln2330Pro) c.4043A>C (p.Gln1348Pro) | |
11 | g.17632143A>G | CA379810533 | OTOG | c.7025A>G (p.Gln2342Arg) c.6989A>G (p.Gln2330Arg) c.4043A>G (p.Gln1348Arg) | gnomAD v4 |
11 | g.17632143A>T | CA379810535 | OTOG | c.7025A>T (p.Gln2342Leu) c.6989A>T (p.Gln2330Leu) c.4043A>T (p.Gln1348Leu) | |
11 | g.17632144G>A | CA473310112 | OTOG | c.7026G>A (p.Gln2342=) c.6990G>A (p.Gln2330=) c.4044G>A (p.Gln1348=) | |
11 | g.17632144G>C | CA379810539 | OTOG | c.7026G>C (p.Gln2342His) c.6990G>C (p.Gln2330His) c.4044G>C (p.Gln1348His) | gnomAD v4 |
11 | g.17632144G>T | CA379810541 | OTOG | c.7026G>T (p.Gln2342His) c.6990G>T (p.Gln2330His) c.4044G>T (p.Gln1348His) | gnomAD v4 |
11 | g.17632145C>A | CA218496223 | OTOG | c.7027C>A (p.Pro2343Thr) c.6991C>A (p.Pro2331Thr) c.4045C>A (p.Pro1349Thr) | dbSNP gnomAD v4 |
11 | g.17632145C= | CA1955235511 | OTOG | c.7027C= (p.Pro2343=) c.6991C= (p.Pro2331=) c.4045C= (p.Pro1349=) | |
11 | g.17632145C>G | CA379810545 | OTOG | c.7027C>G (p.Pro2343Ala) c.6991C>G (p.Pro2331Ala) c.4045C>G (p.Pro1349Ala) | |
11 | g.17632145C>T | CA379810542 | OTOG | c.7027C>T (p.Pro2343Ser) c.6991C>T (p.Pro2331Ser) c.4045C>T (p.Pro1349Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632146C>A | CA379810549 | OTOG | c.7028C>A (p.Pro2343His) c.6992C>A (p.Pro2331His) c.4046C>A (p.Pro1349His) | |
11 | g.17632146C>G | CA379810555 | OTOG | c.7028C>G (p.Pro2343Arg) c.6992C>G (p.Pro2331Arg) c.4046C>G (p.Pro1349Arg) | |
11 | g.17632146C>T | CA379810551 | OTOG | c.7028C>T (p.Pro2343Leu) c.6992C>T (p.Pro2331Leu) c.4046C>T (p.Pro1349Leu) | |
11 | g.17632147C>A | CA473310115 | OTOG | c.7029C>A (p.Pro2343=) c.6993C>A (p.Pro2331=) c.4047C>A (p.Pro1349=) | |
11 | g.17632147C= | CA1955235512 | OTOG | c.7029C= (p.Pro2343=) c.6993C= (p.Pro2331=) c.4047C= (p.Pro1349=) | |
11 | g.17632147C>G | CA473310114 | OTOG | c.7029C>G (p.Pro2343=) c.6993C>G (p.Pro2331=) c.4047C>G (p.Pro1349=) | |
11 | g.17632147C>T | CA473310113 | OTOG | c.7029C>T (p.Pro2343=) c.6993C>T (p.Pro2331=) c.4047C>T (p.Pro1349=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632148T>A | CA379810557 | OTOG | c.7030T>A (p.Cys2344Ser) c.6994T>A (p.Cys2332Ser) c.4048T>A (p.Cys1350Ser) | |
11 | g.17632148T>C | CA379810559 | OTOG | c.7030T>C (p.Cys2344Arg) c.6994T>C (p.Cys2332Arg) c.4048T>C (p.Cys1350Arg) | |
11 | g.17632148T>G | CA379810558 | OTOG | c.7030T>G (p.Cys2344Gly) c.6994T>G (p.Cys2332Gly) c.4048T>G (p.Cys1350Gly) | |
11 | g.17632149del | CA2612688554 | OTOG | c.7031del (p.Cys2344SerfsTer4) c.6995del (p.Cys2332SerfsTer4) c.4049del (p.Cys1350SerfsTer4) | gnomAD v4 |
11 | g.17632149G>A | CA379810561 | OTOG | c.7031G>A (p.Cys2344Tyr) c.6995G>A (p.Cys2332Tyr) c.4049G>A (p.Cys1350Tyr) | |
11 | g.17632149G>C | CA379810563 | OTOG | c.7031G>C (p.Cys2344Ser) c.6995G>C (p.Cys2332Ser) c.4049G>C (p.Cys1350Ser) | |
11 | g.17632149G>T | CA379810565 | OTOG | c.7031G>T (p.Cys2344Phe) c.6995G>T (p.Cys2332Phe) c.4049G>T (p.Cys1350Phe) | |
11 | g.17632150C>A | CA379810566 | OTOG | c.7032C>A (p.Cys2344Ter) c.6996C>A (p.Cys2332Ter) c.4050C>A (p.Cys1350Ter) | gnomAD v4 |
11 | g.17632150C= | CA1955235513 | OTOG | c.7032C= (p.Cys2344=) c.6996C= (p.Cys2332=) c.4050C= (p.Cys1350=) | |
11 | g.17632150C>G | CA379810567 | OTOG | c.7032C>G (p.Cys2344Trp) c.6996C>G (p.Cys2332Trp) c.4050C>G (p.Cys1350Trp) | |
11 | g.17632150C>T | CA5906081 | OTOG | c.7032C>T (p.Cys2344=) c.6996C>T (p.Cys2332=) c.4050C>T (p.Cys1350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632151G>A | CA5906082 | OTOG | c.7033G>A (p.Val2345Met) c.6997G>A (p.Val2333Met) c.4051G>A (p.Val1351Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632151G>C | CA379810570 | OTOG | c.7033G>C (p.Val2345Leu) c.6997G>C (p.Val2333Leu) c.4051G>C (p.Val1351Leu) | |
11 | g.17632151G= | CA1955235514 | OTOG | c.7033G= (p.Val2345=) c.6997G= (p.Val2333=) c.4051G= (p.Val1351=) | |
11 | g.17632151G>T | CA379810571 | OTOG | c.7033G>T (p.Val2345Leu) c.6997G>T (p.Val2333Leu) c.4051G>T (p.Val1351Leu) | |
11 | g.17632152T>A | CA379810577 | OTOG | c.7034T>A (p.Val2345Glu) c.6998T>A (p.Val2333Glu) c.4052T>A (p.Val1351Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632152T>C | CA379810576 | OTOG | c.7034T>C (p.Val2345Ala) c.6998T>C (p.Val2333Ala) c.4052T>C (p.Val1351Ala) | |
11 | g.17632152T>G | CA379810574 | OTOG | c.7034T>G (p.Val2345Gly) c.6998T>G (p.Val2333Gly) c.4052T>G (p.Val1351Gly) | |
11 | g.17632152T= | CA1955235515 | OTOG | c.7034T= (p.Val2345=) c.6998T= (p.Val2333=) c.4052T= (p.Val1351=) | |
11 | g.17632153G>A | CA473310116 | OTOG | c.7035G>A (p.Val2345=) c.6999G>A (p.Val2333=) c.4053G>A (p.Val1351=) | |
11 | g.17632153G>C | CA473310118 | OTOG | c.7035G>C (p.Val2345=) c.6999G>C (p.Val2333=) c.4053G>C (p.Val1351=) | |
11 | g.17632153G>T | CA473310117 | OTOG | c.7035G>T (p.Val2345=) c.6999G>T (p.Val2333=) c.4053G>T (p.Val1351=) | |
11 | g.17632154G>A | CA379810580 | OTOG | c.7036G>A (p.Ala2346Thr) c.7000G>A (p.Ala2334Thr) c.4054G>A (p.Ala1352Thr) | |
11 | g.17632154G>C | CA379810581 | OTOG | c.7036G>C (p.Ala2346Pro) c.7000G>C (p.Ala2334Pro) c.4054G>C (p.Ala1352Pro) | |
11 | g.17632154G= | CA1955235516 | OTOG | c.7036G= (p.Ala2346=) c.7000G= (p.Ala2334=) c.4054G= (p.Ala1352=) | |
11 | g.17632154G>T | CA379810584 | OTOG | c.7036G>T (p.Ala2346Ser) c.7000G>T (p.Ala2334Ser) c.4054G>T (p.Ala1352Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17632155C>A | CA379810586 | OTOG | c.7037C>A (p.Ala2346Asp) c.7001C>A (p.Ala2334Asp) c.4055C>A (p.Ala1352Asp) | gnomAD v4 |
11 | g.17632155C= | CA1955235517 | OTOG | c.7037C= (p.Ala2346=) c.7001C= (p.Ala2334=) c.4055C= (p.Ala1352=) | |
11 | g.17632155C>G | CA379810588 | OTOG | c.7037C>G (p.Ala2346Gly) c.7001C>G (p.Ala2334Gly) c.4055C>G (p.Ala1352Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17632155C>T | CA379810592 | OTOG | c.7037C>T (p.Ala2346Val) c.7001C>T (p.Ala2334Val) c.4055C>T (p.Ala1352Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17632156C>A | CA473310119 | OTOG | c.7038C>A (p.Ala2346=) c.7002C>A (p.Ala2334=) c.4056C>A (p.Ala1352=) | |
11 | g.17632156C= | CA1955235518 | OTOG | c.7038C= (p.Ala2346=) c.7002C= (p.Ala2334=) c.4056C= (p.Ala1352=) | |
11 | g.17632156C>G | CA473310120 | OTOG | c.7038C>G (p.Ala2346=) c.7002C>G (p.Ala2334=) c.4056C>G (p.Ala1352=) | |
11 | g.17632156C>T | CA473310121 | OTOG | c.7038C>T (p.Ala2346=) c.7002C>T (p.Ala2334=) c.4056C>T (p.Ala1352=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632157C>A | CA379810595 | OTOG | c.7039C>A (p.Leu2347Met) c.7003C>A (p.Leu2335Met) c.4057C>A (p.Leu1353Met) | |
11 | g.17632157C>G | CA379810597 | OTOG | c.7039C>G (p.Leu2347Val) c.7003C>G (p.Leu2335Val) c.4057C>G (p.Leu1353Val) | |
11 | g.17632157C>T | CA473310122 | OTOG | c.7039C>T (p.Leu2347=) c.7003C>T (p.Leu2335=) c.4057C>T (p.Leu1353=) | gnomAD v4 |
11 | g.17632160_17632163del | CA2574771032 | OTOG | c.7042_7045del (p.Thr2348CysfsTer?) c.7006_7009del (p.Thr2336CysfsTer?) c.4060_4063del (p.Thr1354CysfsTer?) | gnomAD v4 |
11 | g.17632158T>A | CA379810603 | OTOG | c.7040T>A (p.Leu2347Gln) c.7004T>A (p.Leu2335Gln) c.4058T>A (p.Leu1353Gln) | |
11 | g.17632158T>C | CA379810604 | OTOG | c.7040T>C (p.Leu2347Pro) c.7004T>C (p.Leu2335Pro) c.4058T>C (p.Leu1353Pro) | |
11 | g.17632158T>G | CA379810607 | OTOG | c.7040T>G (p.Leu2347Arg) c.7004T>G (p.Leu2335Arg) c.4058T>G (p.Leu1353Arg) | |
11 | g.17632159G>A | CA473310123 | OTOG | c.7041G>A (p.Leu2347=) c.7005G>A (p.Leu2335=) c.4059G>A (p.Leu1353=) | |
11 | g.17632159G>C | CA473310124 | OTOG | c.7041G>C (p.Leu2347=) c.7005G>C (p.Leu2335=) c.4059G>C (p.Leu1353=) | |
11 | g.17632159G>T | CA473310125 | OTOG | c.7041G>T (p.Leu2347=) c.7005G>T (p.Leu2335=) c.4059G>T (p.Leu1353=) | |
11 | g.17632160A>C | CA379810612 | OTOG | c.7042A>C (p.Thr2348Pro) c.7006A>C (p.Thr2336Pro) c.4060A>C (p.Thr1354Pro) | |
11 | g.17632160A>G | CA379810613 | OTOG | c.7042A>G (p.Thr2348Ala) c.7006A>G (p.Thr2336Ala) c.4060A>G (p.Thr1354Ala) | |
11 | g.17632160A>T | CA379810609 | OTOG | c.7042A>T (p.Thr2348Ser) c.7006A>T (p.Thr2336Ser) c.4060A>T (p.Thr1354Ser) | |
11 | g.17632161C>A | CA379810617 | OTOG | c.7043C>A (p.Thr2348Asn) c.7007C>A (p.Thr2336Asn) c.4061C>A (p.Thr1354Asn) | |
11 | g.17632161C= | CA1955235519 | OTOG | c.7043C= (p.Thr2348=) c.7007C= (p.Thr2336=) c.4061C= (p.Thr1354=) | |
11 | g.17632161C>G | CA379810618 | OTOG | c.7043C>G (p.Thr2348Ser) c.7007C>G (p.Thr2336Ser) c.4061C>G (p.Thr1354Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632161C>T | CA379810620 | OTOG | c.7043C>T (p.Thr2348Ile) c.7007C>T (p.Thr2336Ile) c.4061C>T (p.Thr1354Ile) | gnomAD v4 |
11 | g.17632162T>A | CA473310126 | OTOG | c.7044T>A (p.Thr2348=) c.7008T>A (p.Thr2336=) c.4062T>A (p.Thr1354=) | |
11 | g.17632162T>C | CA473310127 | OTOG | c.7044T>C (p.Thr2348=) c.7008T>C (p.Thr2336=) c.4062T>C (p.Thr1354=) | |
11 | g.17632162T>G | CA473310128 | OTOG | c.7044T>G (p.Thr2348=) c.7008T>G (p.Thr2336=) c.4062T>G (p.Thr1354=) | |
11 | g.17632163G>A | CA379810623 | OTOG | c.7045G>A (p.Val2349Met) c.7009G>A (p.Val2337Met) c.4063G>A (p.Val1355Met) | |
11 | g.17632163G>C | CA5906083 | OTOG | c.7045G>C (p.Val2349Leu) c.7009G>C (p.Val2337Leu) c.4063G>C (p.Val1355Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632163G= | CA1955235520 | OTOG | c.7045G= (p.Val2349=) c.7009G= (p.Val2337=) c.4063G= (p.Val1355=) | |
11 | g.17632163G>T | CA379810626 | OTOG | c.7045G>T (p.Val2349Leu) c.7009G>T (p.Val2337Leu) c.4063G>T (p.Val1355Leu) | |
11 | g.17632164T>A | CA379810629 | OTOG | c.7046T>A (p.Val2349Glu) c.7010T>A (p.Val2337Glu) c.4064T>A (p.Val1355Glu) | |
11 | g.17632164T>C | CA379810631 | OTOG | c.7046T>C (p.Val2349Ala) c.7010T>C (p.Val2337Ala) c.4064T>C (p.Val1355Ala) | gnomAD v4 |
11 | g.17632164T>G | CA379810634 | OTOG | c.7046T>G (p.Val2349Gly) c.7010T>G (p.Val2337Gly) c.4064T>G (p.Val1355Gly) | |
11 | g.17632165G>A | CA473310129 | OTOG | c.7047G>A (p.Val2349=) c.7011G>A (p.Val2337=) c.4065G>A (p.Val1355=) | |
11 | g.17632165G>C | CA473310130 | OTOG | c.7047G>C (p.Val2349=) c.7011G>C (p.Val2337=) c.4065G>C (p.Val1355=) | |
11 | g.17632165G>T | CA473310131 | OTOG | c.7047G>T (p.Val2349=) c.7011G>T (p.Val2337=) c.4065G>T (p.Val1355=) | gnomAD v4 |
11 | g.17632166T>A | CA379810635 | OTOG | c.7048T>A (p.Tyr2350Asn) c.7012T>A (p.Tyr2338Asn) c.4066T>A (p.Tyr1356Asn) | |
11 | g.17632166T>C | CA379810637 | OTOG | c.7048T>C (p.Tyr2350His) c.7012T>C (p.Tyr2338His) c.4066T>C (p.Tyr1356His) | |
11 | g.17632166T>G | CA379810639 | OTOG | c.7048T>G (p.Tyr2350Asp) c.7012T>G (p.Tyr2338Asp) c.4066T>G (p.Tyr1356Asp) | |
11 | g.17632167A>C | CA379810645 | OTOG | c.7049A>C (p.Tyr2350Ser) c.7013A>C (p.Tyr2338Ser) c.4067A>C (p.Tyr1356Ser) | |
11 | g.17632167A>G | CA379810641 | OTOG | c.7049A>G (p.Tyr2350Cys) c.7013A>G (p.Tyr2338Cys) c.4067A>G (p.Tyr1356Cys) | |
11 | g.17632167A>T | CA379810642 | OTOG | c.7049A>T (p.Tyr2350Phe) c.7013A>T (p.Tyr2338Phe) c.4067A>T (p.Tyr1356Phe) | |
11 | g.17632168C>A | CA379810646 | OTOG | c.7050C>A (p.Tyr2350Ter) c.7014C>A (p.Tyr2338Ter) c.4068C>A (p.Tyr1356Ter) | |
11 | g.17632168C= | CA1955235521 | OTOG | c.7050C= (p.Tyr2350=) c.7014C= (p.Tyr2338=) c.4068C= (p.Tyr1356=) | |
11 | g.17632168C>G | CA379810648 | OTOG | c.7050C>G (p.Tyr2350Ter) c.7014C>G (p.Tyr2338Ter) c.4068C>G (p.Tyr1356Ter) | gnomAD v4 |
11 | g.17632168C>T | CA218496244 | OTOG | c.7050C>T (p.Tyr2350=) c.7014C>T (p.Tyr2338=) c.4068C>T (p.Tyr1356=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632169G>A | CA5906085 | OTOG | c.7051G>A (p.Val2351Met) c.7015G>A (p.Val2339Met) c.4069G>A (p.Val1357Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17632169G>C | CA5906084 | OTOG | c.7051G>C (p.Val2351Leu) c.7015G>C (p.Val2339Leu) c.4069G>C (p.Val1357Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632169G= | CA1955235522 | OTOG | c.7051G= (p.Val2351=) c.7015G= (p.Val2339=) c.4069G= (p.Val1357=) | |
11 | g.17632169G>T | CA379810651 | OTOG | c.7051G>T (p.Val2351Leu) c.7015G>T (p.Val2339Leu) c.4069G>T (p.Val1357Leu) | |
11 | g.17632170T>A | CA379810653 | OTOG | c.7052T>A (p.Val2351Glu) c.7016T>A (p.Val2339Glu) c.4070T>A (p.Val1357Glu) | |
11 | g.17632170T>C | CA379810657 | OTOG | c.7052T>C (p.Val2351Ala) c.7016T>C (p.Val2339Ala) c.4070T>C (p.Val1357Ala) | gnomAD v4 |
11 | g.17632170T>G | CA379810659 | OTOG | c.7052T>G (p.Val2351Gly) c.7016T>G (p.Val2339Gly) c.4070T>G (p.Val1357Gly) | |
11 | g.17632171G>A | CA473310132 | OTOG | c.7053G>A (p.Val2351=) c.7017G>A (p.Val2339=) c.4071G>A (p.Val1357=) | |
11 | g.17632171G>C | CA473310133 | OTOG | c.7053G>C (p.Val2351=) c.7017G>C (p.Val2339=) c.4071G>C (p.Val1357=) | |
11 | g.17632171G>T | CA473310134 | OTOG | c.7053G>T (p.Val2351=) c.7017G>T (p.Val2339=) c.4071G>T (p.Val1357=) | |
11 | g.17632172G>A | CA379810660 | OTOG | c.7054G>A (p.Ala2352Thr) c.7018G>A (p.Ala2340Thr) c.4072G>A (p.Ala1358Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632172G>C | CA379810661 | OTOG | c.7054G>C (p.Ala2352Pro) c.7018G>C (p.Ala2340Pro) c.4072G>C (p.Ala1358Pro) | |
11 | g.17632172G= | CA1955235523 | OTOG | c.7054G= (p.Ala2352=) c.7018G= (p.Ala2340=) c.4072G= (p.Ala1358=) | |
11 | g.17632172G>T | CA379810663 | OTOG | c.7054G>T (p.Ala2352Ser) c.7018G>T (p.Ala2340Ser) c.4072G>T (p.Ala1358Ser) | |
11 | g.17632173C>A | CA379810666 | OTOG | c.7055C>A (p.Ala2352Asp) c.7019C>A (p.Ala2340Asp) c.4073C>A (p.Ala1358Asp) | |
11 | g.17632173C>G | CA379810668 | OTOG | c.7055C>G (p.Ala2352Gly) c.7019C>G (p.Ala2340Gly) c.4073C>G (p.Ala1358Gly) | |
11 | g.17632173C>T | CA379810664 | OTOG | c.7055C>T (p.Ala2352Val) c.7019C>T (p.Ala2340Val) c.4073C>T (p.Ala1358Val) | |
11 | g.17632174C>A | CA473310137 | OTOG | c.7056C>A (p.Ala2352=) c.7020C>A (p.Ala2340=) c.4074C>A (p.Ala1358=) | |
11 | g.17632174C>G | CA473310135 | OTOG | c.7056C>G (p.Ala2352=) c.7020C>G (p.Ala2340=) c.4074C>G (p.Ala1358=) | |
11 | g.17632174C>T | CA473310136 | OTOG | c.7056C>T (p.Ala2352=) c.7020C>T (p.Ala2340=) c.4074C>T (p.Ala1358=) | |
11 | g.17632175A>C | CA379810676 | OTOG | c.7057A>C (p.Met2353Leu) c.7021A>C (p.Met2341Leu) c.4075A>C (p.Met1359Leu) | |
11 | g.17632175A>G | CA379810670 | OTOG | c.7057A>G (p.Met2353Val) c.7021A>G (p.Met2341Val) c.4075A>G (p.Met1359Val) | gnomAD v4 |
11 | g.17632175A>T | CA379810672 | OTOG | c.7057A>T (p.Met2353Leu) c.7021A>T (p.Met2341Leu) c.4075A>T (p.Met1359Leu) | |
11 | g.17632176T>A | CA379810677 | OTOG | c.7058T>A (p.Met2353Lys) c.7022T>A (p.Met2341Lys) c.4076T>A (p.Met1359Lys) | dbSNP |
11 | g.17632176T>C | CA218496264 | OTOG | c.7058T>C (p.Met2353Thr) c.7022T>C (p.Met2341Thr) c.4076T>C (p.Met1359Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632176T>G | CA379810679 | OTOG | c.7058T>G (p.Met2353Arg) c.7022T>G (p.Met2341Arg) c.4076T>G (p.Met1359Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17632176T= | CA1955235524 | OTOG | c.7058T= (p.Met2353=) c.7022T= (p.Met2341=) c.4076T= (p.Met1359=) | |
11 | g.17632177G>A | CA379810681 | OTOG | c.7059G>A (p.Met2353Ile) c.7023G>A (p.Met2341Ile) c.4077G>A (p.Met1359Ile) | gnomAD v4 |
11 | g.17632177G>C | CA379810682 | OTOG | c.7059G>C (p.Met2353Ile) c.7023G>C (p.Met2341Ile) c.4077G>C (p.Met1359Ile) | |
11 | g.17632177G>T | CA379810685 | OTOG | c.7059G>T (p.Met2353Ile) c.7023G>T (p.Met2341Ile) c.4077G>T (p.Met1359Ile) | |
11 | g.17632178T>A | CA379810687 | OTOG | c.7060T>A (p.Cys2354Ser) c.7024T>A (p.Cys2342Ser) c.4078T>A (p.Cys1360Ser) | |
11 | g.17632178T>C | CA379810689 | OTOG | c.7060T>C (p.Cys2354Arg) c.7024T>C (p.Cys2342Arg) c.4078T>C (p.Cys1360Arg) | |
11 | g.17632178T>G | CA5906086 | OTOG | c.7060T>G (p.Cys2354Gly) c.7024T>G (p.Cys2342Gly) c.4078T>G (p.Cys1360Gly) | dbSNP ExAC |
11 | g.17632178T= | CA1955235525 | OTOG | c.7060T= (p.Cys2354=) c.7024T= (p.Cys2342=) c.4078T= (p.Cys1360=) | |
11 | g.17632179G>A | CA379810695 | OTOG | c.7061G>A (p.Cys2354Tyr) c.7025G>A (p.Cys2342Tyr) c.4079G>A (p.Cys1360Tyr) | |
11 | g.17632179G>C | CA379810694 | OTOG | c.7061G>C (p.Cys2354Ser) c.7025G>C (p.Cys2342Ser) c.4079G>C (p.Cys1360Ser) | |
11 | g.17632179G>T | CA379810692 | OTOG | c.7061G>T (p.Cys2354Phe) c.7025G>T (p.Cys2342Phe) c.4079G>T (p.Cys1360Phe) | |
11 | g.17632180C>A | CA379810697 | OTOG | c.7062C>A (p.Cys2354Ter) c.7026C>A (p.Cys2342Ter) c.4080C>A (p.Cys1360Ter) | |
11 | g.17632180C>G | CA379810699 | OTOG | c.7062C>G (p.Cys2354Trp) c.7026C>G (p.Cys2342Trp) c.4080C>G (p.Cys1360Trp) | |
11 | g.17632180C>T | CA473310138 | OTOG | c.7062C>T (p.Cys2354=) c.7026C>T (p.Cys2342=) c.4080C>T (p.Cys1360=) | |
11 | g.17632181C>A | CA379810701 | OTOG | c.7063C>A (p.His2355Asn) c.7027C>A (p.His2343Asn) c.4081C>A (p.His1361Asn) | |
11 | g.17632181C= | CA1955235526 | OTOG | c.7063C= (p.His2355=) c.7027C= (p.His2343=) c.4081C= (p.His1361=) | |
11 | g.17632181C>G | CA379810704 | OTOG | c.7063C>G (p.His2355Asp) c.7027C>G (p.His2343Asp) c.4081C>G (p.His1361Asp) | |
11 | g.17632181C>T | CA379810708 | OTOG | c.7063C>T (p.His2355Tyr) c.7027C>T (p.His2343Tyr) c.4081C>T (p.His1361Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632182A>C | CA379810710 | OTOG | c.7064A>C (p.His2355Pro) c.7028A>C (p.His2343Pro) c.4082A>C (p.His1361Pro) | |
11 | g.17632182A>G | CA379810713 | OTOG | c.7064A>G (p.His2355Arg) c.7028A>G (p.His2343Arg) c.4082A>G (p.His1361Arg) | gnomAD v4 |
11 | g.17632182A>T | CA379810715 | OTOG | c.7064A>T (p.His2355Leu) c.7028A>T (p.His2343Leu) c.4082A>T (p.His1361Leu) | |
11 | g.17632183C>A | CA379810717 | OTOG | c.7065C>A (p.His2355Gln) c.7029C>A (p.His2343Gln) c.4083C>A (p.His1361Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632183C= | CA1955235527 | OTOG | c.7065C= (p.His2355=) c.7029C= (p.His2343=) c.4083C= (p.His1361=) | |
11 | g.17632183C>G | CA379810719 | OTOG | c.7065C>G (p.His2355Gln) c.7029C>G (p.His2343Gln) c.4083C>G (p.His1361Gln) | |
11 | g.17632183C>T | CA473310139 | OTOG | c.7065C>T (p.His2355=) c.7029C>T (p.His2343=) c.4083C>T (p.His1361=) | |
11 | g.17632184A>C | CA379810722 | OTOG | c.7066A>C (p.Lys2356Gln) c.7030A>C (p.Lys2344Gln) c.4084A>C (p.Lys1362Gln) | |
11 | g.17632184A>G | CA379810727 | OTOG | c.7066A>G (p.Lys2356Glu) c.7030A>G (p.Lys2344Glu) c.4084A>G (p.Lys1362Glu) | |
11 | g.17632184A>T | CA379810729 | OTOG | c.7066A>T (p.Lys2356Ter) c.7030A>T (p.Lys2344Ter) c.4084A>T (p.Lys1362Ter) | |
11 | g.17632185A= | CA1955235528 | OTOG | c.7067A= (p.Lys2356=) c.7031A= (p.Lys2344=) c.4085A= (p.Lys1362=) | |
11 | g.17632185A>C | CA379810734 | OTOG | c.7067A>C (p.Lys2356Thr) c.7031A>C (p.Lys2344Thr) c.4085A>C (p.Lys1362Thr) | |
11 | g.17632185A>G | CA5906087 | OTOG | c.7067A>G (p.Lys2356Arg) c.7031A>G (p.Lys2344Arg) c.4085A>G (p.Lys1362Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17632185A>T | CA379810731 | OTOG | c.7067A>T (p.Lys2356Ile) c.7031A>T (p.Lys2344Ile) c.4085A>T (p.Lys1362Ile) | |
11 | g.17632186A>C | CA379810739 | OTOG | c.7068A>C (p.Lys2356Asn) c.7032A>C (p.Lys2344Asn) c.4086A>C (p.Lys1362Asn) | |
11 | g.17632186A>G | CA473310140 | OTOG | c.7068A>G (p.Lys2356=) c.7032A>G (p.Lys2344=) c.4086A>G (p.Lys1362=) | |
11 | g.17632186A>T | CA379810742 | OTOG | c.7068A>T (p.Lys2356Asn) c.7032A>T (p.Lys2344Asn) c.4086A>T (p.Lys1362Asn) | |
11 | g.17632187T>A | CA379810746 | OTOG | c.7069T>A (p.Phe2357Ile) c.7033T>A (p.Phe2345Ile) c.4087T>A (p.Phe1363Ile) | |
11 | g.17632187T>C | CA379810748 | OTOG | c.7069T>C (p.Phe2357Leu) c.7033T>C (p.Phe2345Leu) c.4087T>C (p.Phe1363Leu) | |
11 | g.17632187T>G | CA379810750 | OTOG | c.7069T>G (p.Phe2357Val) c.7033T>G (p.Phe2345Val) c.4087T>G (p.Phe1363Val) | |
11 | g.17632188T>A | CA379810753 | OTOG | c.7070T>A (p.Phe2357Tyr) c.7034T>A (p.Phe2345Tyr) c.4088T>A (p.Phe1363Tyr) | |
11 | g.17632188T>C | CA379810754 | OTOG | c.7070T>C (p.Phe2357Ser) c.7034T>C (p.Phe2345Ser) c.4088T>C (p.Phe1363Ser) | gnomAD v4 |
11 | g.17632188T>G | CA379810757 | OTOG | c.7070T>G (p.Phe2357Cys) c.7034T>G (p.Phe2345Cys) c.4088T>G (p.Phe1363Cys) | gnomAD v4 |
11 | g.17632189T>A | CA379810758 | OTOG | c.7071T>A (p.Phe2357Leu) c.7035T>A (p.Phe2345Leu) c.4089T>A (p.Phe1363Leu) | |
11 | g.17632189T>C | CA473310141 | OTOG | c.7071T>C (p.Phe2357=) c.7035T>C (p.Phe2345=) c.4089T>C (p.Phe1363=) | gnomAD v4 |
11 | g.17632189T>G | CA379810760 | OTOG | c.7071T>G (p.Phe2357Leu) c.7035T>G (p.Phe2345Leu) c.4089T>G (p.Phe1363Leu) | |
11 | g.17632190C>A | CA379810763 | OTOG | c.7072C>A (p.His2358Asn) c.7036C>A (p.His2346Asn) c.4090C>A (p.His1364Asn) | |
11 | g.17632190C= | CA1955235529 | OTOG | c.7072C= (p.His2358=) c.7036C= (p.His2346=) c.4090C= (p.His1364=) | |
11 | g.17632190C>G | CA379810765 | OTOG | c.7072C>G (p.His2358Asp) c.7036C>G (p.His2346Asp) c.4090C>G (p.His1364Asp) | |
11 | g.17632190C>T | CA379810767 | OTOG | c.7072C>T (p.His2358Tyr) c.7036C>T (p.His2346Tyr) c.4090C>T (p.His1364Tyr) | dbSNP |
11 | g.17632191A= | CA1955235530 | OTOG | c.7073A= (p.His2358=) c.7037A= (p.His2346=) c.4091A= (p.His1364=) | |
11 | g.17632191A>C | CA379810774 | OTOG | c.7073A>C (p.His2358Pro) c.7037A>C (p.His2346Pro) c.4091A>C (p.His1364Pro) | |
11 | g.17632191A>G | CA379810773 | OTOG | c.7073A>G (p.His2358Arg) c.7037A>G (p.His2346Arg) c.4091A>G (p.His1364Arg) | dbSNP gnomAD v4 |
11 | g.17632191A>T | CA379810770 | OTOG | c.7073A>T (p.His2358Leu) c.7037A>T (p.His2346Leu) c.4091A>T (p.His1364Leu) | |
11 | g.17632192T>A | CA379810776 | OTOG | c.7074T>A (p.His2358Gln) c.7038T>A (p.His2346Gln) c.4092T>A (p.His1364Gln) | |
11 | g.17632192T>C | CA473310142 | OTOG | c.7074T>C (p.His2358=) c.7038T>C (p.His2346=) c.4092T>C (p.His1364=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632192T>G | CA379810779 | OTOG | c.7074T>G (p.His2358Gln) c.7038T>G (p.His2346Gln) c.4092T>G (p.His1364Gln) | |
11 | g.17632192T= | CA1955235531 | OTOG | c.7074T= (p.His2358=) c.7038T= (p.His2346=) c.4092T= (p.His1364=) | |
11 | g.17632193G>A | CA379810781 | OTOG | c.7075G>A (p.Val2359Met) c.7039G>A (p.Val2347Met) c.4093G>A (p.Val1365Met) | gnomAD v4 |
11 | g.17632193G>C | CA379810784 | OTOG | c.7075G>C (p.Val2359Leu) c.7039G>C (p.Val2347Leu) c.4093G>C (p.Val1365Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632193G= | CA1955235532 | OTOG | c.7075G= (p.Val2359=) c.7039G= (p.Val2347=) c.4093G= (p.Val1365=) | |
11 | g.17632193G>T | CA379810793 | OTOG | c.7075G>T (p.Val2359Leu) c.7039G>T (p.Val2347Leu) c.4093G>T (p.Val1365Leu) | |
11 | g.17632194T>A | CA379810794 | OTOG | c.7076T>A (p.Val2359Glu) c.7040T>A (p.Val2347Glu) c.4094T>A (p.Val1365Glu) | gnomAD v4 |
11 | g.17632194T>C | CA379810795 | OTOG | c.7076T>C (p.Val2359Ala) c.7040T>C (p.Val2347Ala) c.4094T>C (p.Val1365Ala) | |
11 | g.17632194T>G | CA379810796 | OTOG | c.7076T>G (p.Val2359Gly) c.7040T>G (p.Val2347Gly) c.4094T>G (p.Val1365Gly) | |
11 | g.17632195G>A | CA473310143 | OTOG | c.7077G>A (p.Val2359=) c.7041G>A (p.Val2347=) c.4095G>A (p.Val1365=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632195G>C | CA473310144 | OTOG | c.7077G>C (p.Val2359=) c.7041G>C (p.Val2347=) c.4095G>C (p.Val1365=) | gnomAD v4 |
11 | g.17632195G= | CA1955235533 | OTOG | c.7077G= (p.Val2359=) c.7041G= (p.Val2347=) c.4095G= (p.Val1365=) | |
11 | g.17632195G>T | CA473310145 | OTOG | c.7077G>T (p.Val2359=) c.7041G>T (p.Val2347=) c.4095G>T (p.Val1365=) | |
11 | g.17632196T>A | CA379810797 | OTOG | c.7078T>A (p.Cys2360Ser) c.7042T>A (p.Cys2348Ser) c.4096T>A (p.Cys1366Ser) | |
11 | g.17632196T>C | CA379810799 | OTOG | c.7078T>C (p.Cys2360Arg) c.7042T>C (p.Cys2348Arg) c.4096T>C (p.Cys1366Arg) | |
11 | g.17632196T>G | CA379810802 | OTOG | c.7078T>G (p.Cys2360Gly) c.7042T>G (p.Cys2348Gly) c.4096T>G (p.Cys1366Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17632196T= | CA1955235534 | OTOG | c.7078T= (p.Cys2360=) c.7042T= (p.Cys2348=) c.4096T= (p.Cys1366=) | |
11 | g.17632197G>A | CA379810805 | OTOG | c.7079G>A (p.Cys2360Tyr) c.7043G>A (p.Cys2348Tyr) c.4097G>A (p.Cys1366Tyr) | dbSNP |
11 | g.17632197G>C | CA379810807 | OTOG | c.7079G>C (p.Cys2360Ser) c.7043G>C (p.Cys2348Ser) c.4097G>C (p.Cys1366Ser) | |
11 | g.17632197G= | CA1955235535 | OTOG | c.7079G= (p.Cys2360=) c.7043G= (p.Cys2348=) c.4097G= (p.Cys1366=) | |
11 | g.17632197G>T | CA379810809 | OTOG | c.7079G>T (p.Cys2360Phe) c.7043G>T (p.Cys2348Phe) c.4097G>T (p.Cys1366Phe) | |
11 | g.17632197_17632198del | CA935548405 | OTOG | c.7079_7080del (p.Cys2360TyrfsTer7) c.7043_7044del (p.Cys2348TyrfsTer7) c.4097_4098del (p.Cys1366TyrfsTer7) | gnomAD v3 gnomAD v4 |
11 | g.17632198C>A | CA379810813 | OTOG | c.7080C>A (p.Cys2360Ter) c.7044C>A (p.Cys2348Ter) c.4098C>A (p.Cys1366Ter) | |
11 | g.17632198C>G | CA379810811 | OTOG | c.7080C>G (p.Cys2360Trp) c.7044C>G (p.Cys2348Trp) c.4098C>G (p.Cys1366Trp) | |
11 | g.17632198C>T | CA473310146 | OTOG | c.7080C>T (p.Cys2360=) c.7044C>T (p.Cys2348=) c.4098C>T (p.Cys1366=) | gnomAD v4 |
11 | g.17632199A= | CA1955235536 | OTOG | c.7081A= (p.Ile2361=) c.7045A= (p.Ile2349=) c.4099A= (p.Ile1367=) | |
11 | g.17632199A>C | CA379810817 | OTOG | c.7081A>C (p.Ile2361Leu) c.7045A>C (p.Ile2349Leu) c.4099A>C (p.Ile1367Leu) | |
11 | g.17632199A>G | CA5906088 | OTOG | c.7081A>G (p.Ile2361Val) c.7045A>G (p.Ile2349Val) c.4099A>G (p.Ile1367Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632199A>T | CA379810818 | OTOG | c.7081A>T (p.Ile2361Phe) c.7045A>T (p.Ile2349Phe) c.4099A>T (p.Ile1367Phe) | |
11 | g.17632199_17632200insGATC | CA935548412 | OTOG | c.7081_7082insGATC (p.Ile2361ArgfsTer8) c.7045_7046insGATC (p.Ile2349ArgfsTer8) c.4099_4100insGATC (p.Ile1367ArgfsTer8) | gnomAD v3 gnomAD v4 |
11 | g.17632199_17632200insAGAAGTGTTTAAGAATGGAAGCACCATAAAACAGGGATTTTGTCTGTT | CA2790598415 | OTOG | c.7081_7082insAGAAGTGTTTAAGAATGGAAGCACCATAAAACAGGGATTTTGTCTGTT (p.Ile2361LysfsTer10) c.7045_7046insAGAAGTGTTTAAGAATGGAAGCACCATAAAACAGGGATTTTGTCTGTT (p.Ile2349LysfsTer10) c.4099_4100insAGAAGTGTTTAAGAATGGAAGCACCATAAAACAGGGATTTTGTCTGTT (p.Ile1367LysfsTer10) | |
11 | g.17632200T>A | CA379810822 | OTOG | c.7082T>A (p.Ile2361Asn) c.7046T>A (p.Ile2349Asn) c.4100T>A (p.Ile1367Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632200T>C | CA379810826 | OTOG | c.7082T>C (p.Ile2361Thr) c.7046T>C (p.Ile2349Thr) c.4100T>C (p.Ile1367Thr) | |
11 | g.17632200T>G | CA379810824 | OTOG | c.7082T>G (p.Ile2361Ser) c.7046T>G (p.Ile2349Ser) c.4100T>G (p.Ile1367Ser) | |
11 | g.17632200T= | CA1955235537 | OTOG | c.7082T= (p.Ile2361=) c.7046T= (p.Ile2349=) c.4100T= (p.Ile1367=) | |
11 | g.17632201C>A | CA473310147 | OTOG | c.7083C>A (p.Ile2361=) c.7047C>A (p.Ile2349=) c.4101C>A (p.Ile1367=) | |
11 | g.17632201C= | CA1955235538 | OTOG | c.7083C= (p.Ile2361=) c.7047C= (p.Ile2349=) c.4101C= (p.Ile1367=) | |
11 | g.17632201C>G | CA379810829 | OTOG | c.7083C>G (p.Ile2361Met) c.7047C>G (p.Ile2349Met) c.4101C>G (p.Ile1367Met) | |
11 | g.17632201C>T | CA5906089 | OTOG | c.7083C>T (p.Ile2361=) c.7047C>T (p.Ile2349=) c.4101C>T (p.Ile1367=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632202G>A | CA5906090 | OTOG | c.7084G>A (p.Glu2362Lys) c.7048G>A (p.Glu2350Lys) c.4102G>A (p.Glu1368Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632202G>C | CA379810833 | OTOG | c.7084G>C (p.Glu2362Gln) c.7048G>C (p.Glu2350Gln) c.4102G>C (p.Glu1368Gln) | gnomAD v4 COSMIC |
11 | g.17632202G= | CA1955235539 | OTOG | c.7084G= (p.Glu2362=) c.7048G= (p.Glu2350=) c.4102G= (p.Glu1368=) | |
11 | g.17632202G>T | CA379810834 | OTOG | c.7084G>T (p.Glu2362Ter) c.7048G>T (p.Glu2350Ter) c.4102G>T (p.Glu1368Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17632203del | CA935548429 | OTOG | c.7085del (p.Glu2362GlyfsTer22) c.7049del (p.Glu2350GlyfsTer22) c.4103del (p.Glu1368GlyfsTer22) | gnomAD v3 gnomAD v4 |
11 | g.17632203A>C | CA379810835 | OTOG | c.7085A>C (p.Glu2362Ala) c.7049A>C (p.Glu2350Ala) c.4103A>C (p.Glu1368Ala) | |
11 | g.17632203A>G | CA379810836 | OTOG | c.7085A>G (p.Glu2362Gly) c.7049A>G (p.Glu2350Gly) c.4103A>G (p.Glu1368Gly) | |
11 | g.17632203A>T | CA379810837 | OTOG | c.7085A>T (p.Glu2362Val) c.7049A>T (p.Glu2350Val) c.4103A>T (p.Glu1368Val) | |
11 | g.17632204G>A | CA473310149 | OTOG | c.7086G>A (p.Glu2362=) c.7050G>A (p.Glu2350=) c.4104G>A (p.Glu1368=) | |
11 | g.17632204G>C | CA379810838 | OTOG | c.7086G>C (p.Glu2362Asp) c.7050G>C (p.Glu2350Asp) c.4104G>C (p.Glu1368Asp) | |
11 | g.17632204G>T | CA379810839 | OTOG | c.7086G>T (p.Glu2362Asp) c.7050G>T (p.Glu2350Asp) c.4104G>T (p.Glu1368Asp) | |
11 | g.17632205T>A | CA379810841 | OTOG | c.7087T>A (p.Trp2363Arg) c.7051T>A (p.Trp2351Arg) c.4105T>A (p.Trp1369Arg) | |
11 | g.17632205T>C | CA379810843 | OTOG | c.7087T>C (p.Trp2363Arg) c.7051T>C (p.Trp2351Arg) c.4105T>C (p.Trp1369Arg) | |
11 | g.17632205T>G | CA379810844 | OTOG | c.7087T>G (p.Trp2363Gly) c.7051T>G (p.Trp2351Gly) c.4105T>G (p.Trp1369Gly) | |
11 | g.17632206G>A | CA379810848 | OTOG | c.7088G>A (p.Trp2363Ter) c.7052G>A (p.Trp2351Ter) c.4106G>A (p.Trp1369Ter) | |
11 | g.17632206G>C | CA379810846 | OTOG | c.7088G>C (p.Trp2363Ser) c.7052G>C (p.Trp2351Ser) c.4106G>C (p.Trp1369Ser) | |
11 | g.17632206G>T | CA379810845 | OTOG | c.7088G>T (p.Trp2363Leu) c.7052G>T (p.Trp2351Leu) c.4106G>T (p.Trp1369Leu) | |
11 | g.17632207G>A | CA379810849 | OTOG | c.7089G>A (p.Trp2363Ter) c.7053G>A (p.Trp2351Ter) c.4107G>A (p.Trp1369Ter) | |
11 | g.17632207G>C | CA379810850 | OTOG | c.7089G>C (p.Trp2363Cys) c.7053G>C (p.Trp2351Cys) c.4107G>C (p.Trp1369Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.17632207G= | CA1955235540 | OTOG | c.7089G= (p.Trp2363=) c.7053G= (p.Trp2351=) c.4107G= (p.Trp1369=) | |
11 | g.17632207G>T | CA379810852 | OTOG | c.7089G>T (p.Trp2363Cys) c.7053G>T (p.Trp2351Cys) c.4107G>T (p.Trp1369Cys) | gnomAD v4 |
11 | g.17632208C>A | CA473310151 | OTOG | c.7090C>A (p.Arg2364=) c.7054C>A (p.Arg2352=) c.4108C>A (p.Arg1370=) | |
11 | g.17632208C= | CA1955235541 | OTOG | c.7090C= (p.Arg2364=) c.7054C= (p.Arg2352=) c.4108C= (p.Arg1370=) | |
11 | g.17632208C>G | CA379810854 | OTOG | c.7090C>G (p.Arg2364Gly) c.7054C>G (p.Arg2352Gly) c.4108C>G (p.Arg1370Gly) | |
11 | g.17632208C>T | CA5906091 | OTOG | c.7090C>T (p.Arg2364Trp) c.7054C>T (p.Arg2352Trp) c.4108C>T (p.Arg1370Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632208_17632213del | CA935548436 | OTOG | c.7090_7095del (p.Arg2364_Arg2365del) c.7054_7059del (p.Arg2352_Arg2353del) c.4108_4113del (p.Arg1370_Arg1371del) | gnomAD v3 gnomAD v4 |
11 | g.17632209G>A | CA379810856 | OTOG | c.7091G>A (p.Arg2364Gln) c.7055G>A (p.Arg2352Gln) c.4109G>A (p.Arg1370Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632209G>C | CA379810858 | OTOG | c.7091G>C (p.Arg2364Pro) c.7055G>C (p.Arg2352Pro) c.4109G>C (p.Arg1370Pro) | |
11 | g.17632209G= | CA1955235542 | OTOG | c.7091G= (p.Arg2364=) c.7055G= (p.Arg2352=) c.4109G= (p.Arg1370=) | |
11 | g.17632209G>T | CA379810860 | OTOG | c.7091G>T (p.Arg2364Leu) c.7055G>T (p.Arg2352Leu) c.4109G>T (p.Arg1370Leu) | |
11 | g.17632210G>A | CA473310152 | OTOG | c.7092G>A (p.Arg2364=) c.7056G>A (p.Arg2352=) c.4110G>A (p.Arg1370=) | ClinVar dbSNP gnomAD v4 |
11 | g.17632210G>C | CA473310153 | OTOG | c.7092G>C (p.Arg2364=) c.7056G>C (p.Arg2352=) c.4110G>C (p.Arg1370=) | |
11 | g.17632210G= | CA1955235543 | OTOG | c.7092G= (p.Arg2364=) c.7056G= (p.Arg2352=) c.4110G= (p.Arg1370=) | |
11 | g.17632210G>T | CA473310154 | OTOG | c.7092G>T (p.Arg2364=) c.7056G>T (p.Arg2352=) c.4110G>T (p.Arg1370=) | gnomAD v4 |
11 | g.17632211C>A | CA379810862 | OTOG | c.7093C>A (p.Arg2365Ser) c.7057C>A (p.Arg2353Ser) c.4111C>A (p.Arg1371Ser) | |
11 | g.17632211C= | CA1955235544 | OTOG | c.7093C= (p.Arg2365=) c.7057C= (p.Arg2353=) c.4111C= (p.Arg1371=) | |
11 | g.17632211C>G | CA379810864 | OTOG | c.7093C>G (p.Arg2365Gly) c.7057C>G (p.Arg2353Gly) c.4111C>G (p.Arg1371Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632211C>T | CA218496313 | OTOG | c.7093C>T (p.Arg2365Cys) c.7057C>T (p.Arg2353Cys) c.4111C>T (p.Arg1371Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632212G>A | CA379810870 | OTOG | c.7094G>A (p.Arg2365His) c.7058G>A (p.Arg2353His) c.4112G>A (p.Arg1371His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17632212G>C | CA379810869 | OTOG | c.7094G>C (p.Arg2365Pro) c.7058G>C (p.Arg2353Pro) c.4112G>C (p.Arg1371Pro) | |
11 | g.17632212G= | CA1955235545 | OTOG | c.7094G= (p.Arg2365=) c.7058G= (p.Arg2353=) c.4112G= (p.Arg1371=) | |
11 | g.17632212G>T | CA5906092 | OTOG | c.7094G>T (p.Arg2365Leu) c.7058G>T (p.Arg2353Leu) c.4112G>T (p.Arg1371Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.17632213C>A | CA473310155 | OTOG | c.7095C>A (p.Arg2365=) c.7059C>A (p.Arg2353=) c.4113C>A (p.Arg1371=) | |
11 | g.17632213C= | CA1955235546 | OTOG | c.7095C= (p.Arg2365=) c.7059C= (p.Arg2353=) c.4113C= (p.Arg1371=) | |
11 | g.17632213C>G | CA473310156 | OTOG | c.7095C>G (p.Arg2365=) c.7059C>G (p.Arg2353=) c.4113C>G (p.Arg1371=) | |
11 | g.17632213C>T | CA5906093 | OTOG | c.7095C>T (p.Arg2365=) c.7059C>T (p.Arg2353=) c.4113C>T (p.Arg1371=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17632214T>A | CA379810872 | OTOG | c.7096T>A (p.Ser2366Thr) c.7060T>A (p.Ser2354Thr) c.4114T>A (p.Ser1372Thr) | |
11 | g.17632214T>C | CA379810874 | OTOG | c.7096T>C (p.Ser2366Pro) c.7060T>C (p.Ser2354Pro) c.4114T>C (p.Ser1372Pro) | |
11 | g.17632214T>G | CA379810876 | OTOG | c.7096T>G (p.Ser2366Ala) c.7060T>G (p.Ser2354Ala) c.4114T>G (p.Ser1372Ala) | |
11 | g.17632215C>A | CA379810878 | OTOG | c.7097C>A (p.Ser2366Tyr) c.7061C>A (p.Ser2354Tyr) c.4115C>A (p.Ser1372Tyr) | |
11 | g.17632215C= | CA1955235547 | OTOG | c.7097C= (p.Ser2366=) c.7061C= (p.Ser2354=) c.4115C= (p.Ser1372=) | |
11 | g.17632215C>G | CA379810881 | OTOG | c.7097C>G (p.Ser2366Cys) c.7061C>G (p.Ser2354Cys) c.4115C>G (p.Ser1372Cys) | gnomAD v4 |
11 | g.17632215C>T | CA379810884 | OTOG | c.7097C>T (p.Ser2366Phe) c.7061C>T (p.Ser2354Phe) c.4115C>T (p.Ser1372Phe) | |
11 | g.17632216T>A | CA473310157 | OTOG | c.7098T>A (p.Ser2366=) c.7062T>A (p.Ser2354=) c.4116T>A (p.Ser1372=) | |
11 | g.17632216T>C | CA5906094 | OTOG | c.7098T>C (p.Ser2366=) c.7062T>C (p.Ser2354=) c.4116T>C (p.Ser1372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632216T>G | CA473310158 | OTOG | c.7098T>G (p.Ser2366=) c.7062T>G (p.Ser2354=) c.4116T>G (p.Ser1372=) | |
11 | g.17632216T= | CA1955235548 | OTOG | c.7098T= (p.Ser2366=) c.7062T= (p.Ser2354=) c.4116T= (p.Ser1372=) | |
11 | g.17632216dup | CA674252959 | OTOG | c.7098dup (p.Asp2367Ter) c.7062dup (p.Asp2355Ter) c.4116dup (p.Asp1373Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17632216_17632223del | CA2567807523 | OTOG | c.7098_7105del (p.Asp2367ProfsTer18) c.7062_7069del (p.Asp2355ProfsTer18) c.4116_4123del (p.Asp1373ProfsTer18) | |
11 | g.17632217G>A | CA379810887 | OTOG | c.7099G>A (p.Asp2367Asn) c.7063G>A (p.Asp2355Asn) c.4117G>A (p.Asp1373Asn) | |
11 | g.17632217G>C | CA379810889 | OTOG | c.7099G>C (p.Asp2367His) c.7063G>C (p.Asp2355His) c.4117G>C (p.Asp1373His) | |
11 | g.17632217G>T | CA379810891 | OTOG | c.7099G>T (p.Asp2367Tyr) c.7063G>T (p.Asp2355Tyr) c.4117G>T (p.Asp1373Tyr) | gnomAD v4 |
11 | g.17632218A>C | CA379810895 | OTOG | c.7100A>C (p.Asp2367Ala) c.7064A>C (p.Asp2355Ala) c.4118A>C (p.Asp1373Ala) | |
11 | g.17632218A>G | CA379810894 | OTOG | c.7100A>G (p.Asp2367Gly) c.7064A>G (p.Asp2355Gly) c.4118A>G (p.Asp1373Gly) | |
11 | g.17632218A>T | CA379810893 | OTOG | c.7100A>T (p.Asp2367Val) c.7064A>T (p.Asp2355Val) c.4118A>T (p.Asp1373Val) | |
11 | g.17632219C>A | CA379810896 | OTOG | c.7101C>A (p.Asp2367Glu) c.7065C>A (p.Asp2355Glu) c.4119C>A (p.Asp1373Glu) | |
11 | g.17632219C>G | CA379810897 | OTOG | c.7101C>G (p.Asp2367Glu) c.7065C>G (p.Asp2355Glu) c.4119C>G (p.Asp1373Glu) | |
11 | g.17632219C>T | CA473310159 | OTOG | c.7101C>T (p.Asp2367=) c.7065C>T (p.Asp2355=) c.4119C>T (p.Asp1373=) | |
11 | g.17632220T>A | CA379810898 | OTOG | c.7102T>A (p.Tyr2368Asn) c.7066T>A (p.Tyr2356Asn) c.4120T>A (p.Tyr1374Asn) | |
11 | g.17632220T>C | CA218496335 | OTOG | c.7102T>C (p.Tyr2368His) c.7066T>C (p.Tyr2356His) c.4120T>C (p.Tyr1374His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17632220T>G | CA379810900 | OTOG | c.7102T>G (p.Tyr2368Asp) c.7066T>G (p.Tyr2356Asp) c.4120T>G (p.Tyr1374Asp) | |
11 | g.17632220T= | CA1955235549 | OTOG | c.7102T= (p.Tyr2368=) c.7066T= (p.Tyr2356=) c.4120T= (p.Tyr1374=) | |
11 | g.17632221A= | CA1955235550 | OTOG | c.7103A= (p.Tyr2368=) c.7067A= (p.Tyr2356=) c.4121A= (p.Tyr1374=) | |
11 | g.17632221A>C | CA218496336 | OTOG | c.7103A>C (p.Tyr2368Ser) c.7067A>C (p.Tyr2356Ser) c.4121A>C (p.Tyr1374Ser) | dbSNP |
11 | g.17632221A>G | CA379810901 | OTOG | c.7103A>G (p.Tyr2368Cys) c.7067A>G (p.Tyr2356Cys) c.4121A>G (p.Tyr1374Cys) | |
11 | g.17632221A>T | CA379810902 | OTOG | c.7103A>T (p.Tyr2368Phe) c.7067A>T (p.Tyr2356Phe) c.4121A>T (p.Tyr1374Phe) | |
11 | g.17632222C>A | CA379810904 | OTOG | c.7104C>A (p.Tyr2368Ter) c.7068C>A (p.Tyr2356Ter) c.4122C>A (p.Tyr1374Ter) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632222C= | CA1955235551 | OTOG | c.7104C= (p.Tyr2368=) c.7068C= (p.Tyr2356=) c.4122C= (p.Tyr1374=) | |
11 | g.17632222C>G | CA379810905 | OTOG | c.7104C>G (p.Tyr2368Ter) c.7068C>G (p.Tyr2356Ter) c.4122C>G (p.Tyr1374Ter) | |
11 | g.17632222C>T | CA473310160 | OTOG | c.7104C>T (p.Tyr2368=) c.7068C>T (p.Tyr2356=) c.4122C>T (p.Tyr1374=) | |
11 | g.17632223T>A | CA379810906 | OTOG | c.7105T>A (p.Cys2369Ser) c.7069T>A (p.Cys2357Ser) c.4123T>A (p.Cys1375Ser) | |
11 | g.17632223T>C | CA379810908 | OTOG | c.7105T>C (p.Cys2369Arg) c.7069T>C (p.Cys2357Arg) c.4123T>C (p.Cys1375Arg) | |
11 | g.17632223T>G | CA379810909 | OTOG | c.7105T>G (p.Cys2369Gly) c.7069T>G (p.Cys2357Gly) c.4123T>G (p.Cys1375Gly) | |
11 | g.17632224G>A | CA379810916 | OTOG | c.7106G>A (p.Cys2369Tyr) c.7070G>A (p.Cys2357Tyr) c.4124G>A (p.Cys1375Tyr) | |
11 | g.17632224G>C | CA379810917 | OTOG | c.7106G>C (p.Cys2369Ser) c.7070G>C (p.Cys2357Ser) c.4124G>C (p.Cys1375Ser) | |
11 | g.17632224G>T | CA379810914 | OTOG | c.7106G>T (p.Cys2369Phe) c.7070G>T (p.Cys2357Phe) c.4124G>T (p.Cys1375Phe) | gnomAD v4 |
11 | g.17632225C>A | CA379810921 | OTOG | c.7107C>A (p.Cys2369Ter) c.7071C>A (p.Cys2357Ter) c.4125C>A (p.Cys1375Ter) | |
11 | g.17632225C= | CA1955235552 | OTOG | c.7107C= (p.Cys2369=) c.7071C= (p.Cys2357=) c.4125C= (p.Cys1375=) | |
11 | g.17632225C>G | CA379810919 | OTOG | c.7107C>G (p.Cys2369Trp) c.7071C>G (p.Cys2357Trp) c.4125C>G (p.Cys1375Trp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17632225C>T | CA473310161 | OTOG | c.7107C>T (p.Cys2369=) c.7071C>T (p.Cys2357=) c.4125C>T (p.Cys1375=) | |
11 | g.17632226C>A | CA379810923 | OTOG | c.7108C>A (p.Pro2370Thr) c.7072C>A (p.Pro2358Thr) c.4126C>A (p.Pro1376Thr) | dbSNP COSMIC |
11 | g.17632226C= | CA1955235553 | OTOG | c.7108C= (p.Pro2370=) c.7072C= (p.Pro2358=) c.4126C= (p.Pro1376=) | |
11 | g.17632226C>G | CA379810925 | OTOG | c.7108C>G (p.Pro2370Ala) c.7072C>G (p.Pro2358Ala) c.4126C>G (p.Pro1376Ala) | ClinVar dbSNP |
11 | g.17632226C>T | CA379810927 | OTOG | c.7108C>T (p.Pro2370Ser) c.7072C>T (p.Pro2358Ser) c.4126C>T (p.Pro1376Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17632227G>A | CA379810929 | OTOG | c.7108+1G>A (n.7108+1G>A) c.7072+1G>A (n.7072+1G>A) c.4126+1G>A (n.4126+1G>A) | gnomAD v4 COSMIC |
11 | g.17632227G>C | CA379810931 | OTOG | c.7108+1G>C (n.7108+1G>C) c.7072+1G>C (n.7072+1G>C) c.4126+1G>C (n.4126+1G>C) | |
11 | g.17632227G>T | CA379810933 | OTOG | c.7108+1G>T (n.7108+1G>T) c.7072+1G>T (n.7072+1G>T) c.4126+1G>T (n.4126+1G>T) | gnomAD v4 |
11 | g.17632228T>A | CA379810936 | OTOG | c.7108+2T>A (n.7108+2T>A) c.7072+2T>A (n.7072+2T>A) c.4126+2T>A (n.4126+2T>A) | |
11 | g.17632228T>C | CA379810938 | OTOG | c.7108+2T>C (n.7108+2T>C) c.7072+2T>C (n.7072+2T>C) c.4126+2T>C (n.4126+2T>C) | |
11 | g.17632228T>G | CA379810941 | OTOG | c.7108+2T>G (n.7108+2T>G) c.7072+2T>G (n.7072+2T>G) c.4126+2T>G (n.4126+2T>G) | gnomAD v4 |
11 | g.17632228_17632229insATCATTAAAAAAT | CA2508883620 | OTOG | c.7108+2_7108+3insATCATTAAAAAAT (n.7108+2_7108+3insATCATTAAAAAAT) c.7072+2_7072+3insATCATTAAAAAAT (n.7072+2_7072+3insATCATTAAAAAAT) c.4126+2_4126+3insATCATTAAAAAAT (n.4126+2_4126+3insATCATTAAAAAAT) | |
11 | g.17632229G>C | CA2574771033 | OTOG | c.7108+3G>C (n.7108+3G>C) c.7072+3G>C (n.7072+3G>C) c.4126+3G>C (n.4126+3G>C) | gnomAD v4 |
11 | g.17632229G>T | CA2612688555 | OTOG | c.7108+3G>T (n.7108+3G>T) c.7072+3G>T (n.7072+3G>T) c.4126+3G>T (n.4126+3G>T) | gnomAD v4 |