NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter)
|
rs111033383
|
0.00012
|
NM_194248.3(OTOF):c.4227+1G>T
|
rs397515601
|
0.00009
|
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)
|
rs80356595
|
0.00005
|
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)
|
rs202086317
|
0.00004
|
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)
|
rs80356593
|
0.00004
|
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp)
|
rs368155547
|
0.00004
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00004
|
NM_194248.3(OTOF):c.76C>T (p.Arg26Ter)
|
rs145208539
|
0.00003
|
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln)
|
rs201326023
|
0.00003
|
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
|
rs111033405
|
0.00002
|
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)
|
rs781688103
|
0.00002
|
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter)
|
rs397515582
|
0.00001
|
NM_194248.3(OTOF):c.2521G>A (p.Glu841Lys)
|
rs772729658
|
0.00001
|
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter)
|
rs199848801
|
0.00001
|
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)
|
rs111033349
|
0.00001
|
NC_000002.11:g.(?_26706310)_(26707521_?)del
|
|
|
NM_194248.3(OTOF):c.1037C>A (p.Ser346Ter)
|
|
|
NM_194248.3(OTOF):c.1039C>T (p.Gln347Ter)
|
|
|
NM_194248.3(OTOF):c.1045+1G>C
|
|
|
NM_194248.3(OTOF):c.1045+1G>T
|
|
|
NM_194248.3(OTOF):c.1051C>T (p.Gln351Ter)
|
rs1558492758
|
|
NM_194248.3(OTOF):c.1067G>A (p.Trp356Ter)
|
|
|
NM_194248.3(OTOF):c.1068G>A (p.Trp356Ter)
|
|
|
NM_194248.3(OTOF):c.1172del (p.Lys391fs)
|
rs483353050
|
|
NM_194248.3(OTOF):c.1236del (p.Glu413fs)
|
rs397515581
|
|
NM_194248.3(OTOF):c.1272C>G (p.Tyr424Ter)
|
|
|
NM_194248.3(OTOF):c.1365C>A (p.Tyr455Ter)
|
|
|
NM_194248.3(OTOF):c.1406_1410del (p.Val469fs)
|
|
|
NM_194248.3(OTOF):c.1422T>A (p.Tyr474Ter)
|
rs1403112959
|
|
NM_194248.3(OTOF):c.1433G>A (p.Trp478Ter)
|
|
|
NM_194248.3(OTOF):c.1468_1469del (p.Pro490fs)
|
|
|
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg)
|
rs80356585
|
|
NM_194248.3(OTOF):c.1469del (p.Pro490fs)
|
rs779119416
|
|
NM_194248.3(OTOF):c.1498C>T (p.Arg500Ter)
|
|
|
NM_194248.3(OTOF):c.153_159dup (p.Ser54fs)
|
rs759366568
|
|
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs)
|
rs1443739332
|
|
NM_194248.3(OTOF):c.1601del (p.Pro534fs)
|
rs397515583
|
|
NM_194248.3(OTOF):c.1632_1641dup (p.Leu548Ter)
|
|
|
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter)
|
rs200864338
|
|
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
|
|
|
NM_194248.3(OTOF):c.1966del (p.Arg656fs)
|
rs397515590
|
|
NM_194248.3(OTOF):c.1966dup (p.Arg656fs)
|
rs397515590
|
|
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)
|
rs80356590
|
|
NM_194248.3(OTOF):c.2171del (p.Arg724fs)
|
|
|
NM_194248.3(OTOF):c.2215-1G>A
|
rs1558486388
|
|
NM_194248.3(OTOF):c.2215-1G>C
|
|
|
NM_194248.3(OTOF):c.226A>T (p.Lys76Ter)
|
|
|
NM_194248.3(OTOF):c.2348del (p.Gly783fs)
|
rs80356591
|
|
NM_194248.3(OTOF):c.2521G>T (p.Glu841Ter)
|
|
|
NM_194248.3(OTOF):c.2556del (p.Ile851_Trp852insTer)
|
|
|
NM_194248.3(OTOF):c.2711G>A (p.Trp904Ter)
|
|
|
NM_194248.3(OTOF):c.2843del (p.Pro948fs)
|
|
|
NM_194248.3(OTOF):c.2941_2947del (p.Ser981fs)
|
|
|
NM_194248.3(OTOF):c.2956del (p.Arg986fs)
|
|
|
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs)
|
rs397515597
|
|
NM_194248.3(OTOF):c.3049G>T (p.Glu1017Ter)
|
rs2148046428
|
|
NM_194248.3(OTOF):c.3070G>T (p.Glu1024Ter)
|
|
|
NM_194248.3(OTOF):c.3159del (p.Lys1054fs)
|
|
|
NM_194248.3(OTOF):c.3178del (p.Ala1060fs)
|
rs727504639
|
|
NM_194248.3(OTOF):c.3192C>G (p.Tyr1064Ter)
|
|
|
NM_194248.3(OTOF):c.3239del (p.Arg1080fs)
|
|
|
NM_194248.3(OTOF):c.3258_3268dup (p.Ala1090fs)
|
|
|
NM_194248.3(OTOF):c.3286C>T (p.Gln1096Ter)
|
|
|
NM_194248.3(OTOF):c.3289-1G>C
|
|
|
NM_194248.3(OTOF):c.32C>A (p.Ser11Ter)
|
rs200972155
|
|
NM_194248.3(OTOF):c.3321del (p.Ile1108fs)
|
|
|
NM_194248.3(OTOF):c.3321dup (p.Ile1108fs)
|
|
|
NM_194248.3(OTOF):c.3346C>T (p.Arg1116Ter)
|
|
|
NM_194248.3(OTOF):c.3399C>A (p.Tyr1133Ter)
|
|
|
NM_194248.3(OTOF):c.3409-1G>C
|
|
|
NM_194248.3(OTOF):c.3409-2A>C
|
rs201613240
|
|
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro)
|
rs397515599
|
|
NM_194248.3(OTOF):c.3480_3486del (p.Ile1160fs)
|
|
|
NM_194248.3(OTOF):c.3481G>T (p.Glu1161Ter)
|
|
|
NM_194248.3(OTOF):c.3549_3550insAA (p.Leu1184fs)
|
|
|
NM_194248.3(OTOF):c.354T>A (p.Tyr118Ter)
|
|
|
NM_194248.3(OTOF):c.3679C>T (p.Arg1227Ter)
|
|
|
NM_194248.3(OTOF):c.383G>A (p.Trp128Ter)
|
|
|
NM_194248.3(OTOF):c.3982dup (p.Trp1328fs)
|
|
|
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter)
|
rs1060499805
|
|
NM_194248.3(OTOF):c.4036C>T (p.Gln1346Ter)
|
|
|
NM_194248.3(OTOF):c.418C>T (p.Gln140Ter)
|
|
|
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter)
|
rs80356598
|
|
NM_194248.3(OTOF):c.4289_4292dup (p.Arg1433fs)
|
|
|
NM_194248.3(OTOF):c.4301dup (p.Lys1435fs)
|
|
|
NM_194248.3(OTOF):c.4385_4386del (p.Val1462fs)
|
|
|
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)
|
rs147321712
|
|
NM_194248.3(OTOF):c.4495del (p.Val1499fs)
|
|
|
NM_194248.3(OTOF):c.4596del (p.Asn1531_Tyr1532insTer)
|
|
|
NM_194248.3(OTOF):c.46del (p.Arg16fs)
|
|
|
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
|
|
|
NM_194248.3(OTOF):c.4759A>T (p.Lys1587Ter)
|
|
|
NM_194248.3(OTOF):c.4776C>A (p.Cys1592Ter)
|
|
|
NM_194248.3(OTOF):c.4799+1G>C
|
|
|
NM_194248.3(OTOF):c.4799+1G>T
|
|
|
NM_194248.3(OTOF):c.4799+2T>C
|
|
|
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter)
|
rs143939430
|
|
NM_194248.3(OTOF):c.4877_4880del (p.Asp1626fs)
|
|
|
NM_194248.3(OTOF):c.490G>T (p.Gly164Ter)
|
|
|
NM_194248.3(OTOF):c.493G>T (p.Glu165Ter)
|
|
|
NM_194248.3(OTOF):c.4959del (p.Asn1653fs)
|
|
|
NM_194248.3(OTOF):c.4961-1G>A
|
rs2148024902
|
|
NM_194248.3(OTOF):c.5013G>A (p.Trp1671Ter)
|
|
|
NM_194248.3(OTOF):c.5193-1G>C
|
|
|
NM_194248.3(OTOF):c.5196C>A (p.Tyr1732Ter)
|
rs138681366
|
|
NM_194248.3(OTOF):c.5206del (p.Val1736fs)
|
|
|
NM_194248.3(OTOF):c.5308C>T (p.Gln1770Ter)
|
|
|
NM_194248.3(OTOF):c.5379C>G (p.Tyr1793Ter)
|
rs1558466620
|
|
NM_194248.3(OTOF):c.5431A>T (p.Lys1811Ter)
|
rs1487432642
|
|
NM_194248.3(OTOF):c.5520del (p.Asp1841fs)
|
|
|
NM_194248.3(OTOF):c.5531del (p.Leu1844fs)
|
rs1164047840
|
|
NM_194248.3(OTOF):c.5661del (p.Gly1888fs)
|
|
|
NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)
|
|
|
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)
|
rs397515609
|
|
NM_194248.3(OTOF):c.5814-1_5833del
|
|
|
NM_194248.3(OTOF):c.5868C>A (p.Tyr1956Ter)
|
|
|
NM_194248.3(OTOF):c.5892G>A (p.Trp1964Ter)
|
|
|
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter)
|
rs397515610
|
|
NM_194248.3(OTOF):c.711-1G>T
|
|
|
NM_194248.3(OTOF):c.727A>T (p.Lys243Ter)
|
|
|
NM_194248.3(OTOF):c.766-2A>G
|
rs80356584
|
|
NM_194248.3(OTOF):c.799dup (p.Val267fs)
|
|
|
NM_194248.3(OTOF):c.828C>A (p.Cys276Ter)
|
rs111033447
|
|
NM_194248.3(OTOF):c.993_1003del (p.Thr332fs)
|
|
|
NM_194323.3(OTOF):c.3624del (p.Leu1209fs)
|
rs727505359
|
|