NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu)
|
rs141972928
|
0.00038
|
NM_194248.3(OTOF):c.4023+1G>A
|
rs186810296
|
0.00031
|
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter)
|
rs111033383
|
0.00012
|
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)
|
rs80356595
|
0.00005
|
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)
|
rs80356593
|
0.00004
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00004
|
NM_194248.3(OTOF):c.4799+1G>A
|
rs200147906
|
0.00003
|
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln)
|
rs201326023
|
0.00003
|
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)
|
rs781688103
|
0.00002
|
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr)
|
rs80356586
|
0.00001
|
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser)
|
rs397515435
|
0.00001
|
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter)
|
rs199848801
|
0.00001
|
NM_194248.3(OTOF):c.4882C>A (p.Pro1628Thr)
|
rs760176622
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
0.00001
|
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp)
|
rs530821443
|
0.00001
|
NM_194248.1:c.1912-2C>T
|
|
|
NM_194248.1:c.2295_2297delG
|
|
|
NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG
|
|
|
NM_194248.1:c.5860_5862delATC
|
|
|
NM_194248.1:c.766-2T>A
|
|
|
NM_194248.2(OTOF):c.[4227+1G>T];[5193-1G>A]
|
|
|
NM_194248.3(OTOF):c.1111G>C (p.Gly371Arg)
|
rs879255246
|
|
NM_194248.3(OTOF):c.1236del (p.Glu413fs)
|
rs397515581
|
|
NM_194248.3(OTOF):c.1364_1366delinsTTGC (p.Tyr455fs)
|
rs2148060432
|
|
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter)
|
rs1403112959
|
|
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs)
|
rs1443739332
|
|
NM_194248.3(OTOF):c.1651del (p.Glu551fs)
|
rs80356587
|
|
NM_194248.3(OTOF):c.1801G>T (p.Glu601Ter)
|
rs1558489384
|
|
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp)
|
rs1558488902
|
|
NM_194248.3(OTOF):c.1946_1965del (p.Arg649fs)
|
rs1553353527
|
|
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
|
|
|
NM_194248.3(OTOF):c.1962dup (p.Pro655fs)
|
rs751564248
|
|
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)
|
rs80356590
|
|
NM_194248.3(OTOF):c.2215-1G>C
|
|
|
NM_194248.3(OTOF):c.2348del (p.Gly783fs)
|
rs80356591
|
|
NM_194248.3(OTOF):c.2406+4A>G
|
rs2148051765
|
|
NM_194248.3(OTOF):c.2407-2del
|
|
|
NM_194248.3(OTOF):c.2443del (p.Gln815fs)
|
rs1558485249
|
|
NM_194248.3(OTOF):c.2866+1G>A
|
rs2148047884
|
|
NM_194248.3(OTOF):c.2867-5_2881del
|
rs1240121049
|
|
NM_194248.3(OTOF):c.2985C>A (p.Cys995Ter)
|
rs2148047301
|
|
NM_194248.3(OTOF):c.2989G>T (p.Glu997Ter)
|
rs1558482554
|
|
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro)
|
rs80356596
|
|
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter)
|
rs2148046428
|
|
NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter)
|
|
|
NM_194248.3(OTOF):c.3592dup (p.Leu1198fs)
|
|
|
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter)
|
rs1060499805
|
|
NM_194248.3(OTOF):c.4110_4120dup (p.Lys1374fs)
|
|
|
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter)
|
rs80356598
|
|
NM_194248.3(OTOF):c.4362+1G>C
|
rs1274464930
|
|
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)
|
rs147321712
|
|
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter)
|
rs80356600
|
|
NM_194248.3(OTOF):c.4885del (p.His1629fs)
|
rs2148026336
|
|
NM_194248.3(OTOF):c.4960+1G>C
|
rs80356602
|
|
NM_194248.3(OTOF):c.5193-1G>A
|
rs111033373
|
|
NM_194248.3(OTOF):c.5209ATC[1] (p.Ile1738del)
|
rs2148021052
|
|
NM_194248.3(OTOF):c.5466C>G (p.Tyr1822Ter)
|
rs753580324
|
|
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala)
|
rs28937591
|
|
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val)
|
rs1558464965
|
|
NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter)
|
rs953404925
|
|
NM_194248.3(OTOF):c.5833del (p.Ile1945fs)
|
|
|
NM_194248.3(OTOF):c.766-2A>G
|
rs80356584
|
|
NM_194248.3(OTOF):c.897+5G>A
|
rs1553356452
|
|
NM_194323.3(OTOF):c.3659C>G (p.Pro1220Arg)
|
rs121908598
|
|
NM_194323.3(OTOF):c.3691T>C (p.Ter1231Arg)
|
rs1157997148
|
|