NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00944
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00393
|
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr)
|
rs56165709
|
0.00336
|
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
|
rs138480801
|
0.00230
|
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)
|
rs202085918
|
0.00195
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00108
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys)
|
rs189255177
|
0.00105
|
NM_001379180.1(ESRRB):c.*1546C>T
|
rs201448899
|
0.00087
|
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln)
|
rs727503449
|
0.00085
|
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn)
|
rs189910531
|
0.00084
|
NM_001292063.2(OTOG):c.385G>A (p.Val129Met)
|
rs552304627
|
0.00083
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu)
|
rs200313246
|
0.00067
|
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
|
rs752672077
|
0.00067
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00065
|
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val)
|
rs199740747
|
0.00063
|
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys)
|
rs201618718
|
0.00063
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00060
|
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met)
|
rs111759871
|
0.00058
|
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)
|
rs140220538
|
0.00057
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00050
|
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys)
|
rs140154015
|
0.00049
|
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly)
|
rs545257884
|
0.00048
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly)
|
rs199904558
|
0.00045
|
NM_021116.4(ADCY1):c.2161A>G (p.Thr721Ala)
|
rs74535389
|
0.00043
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00042
|
NM_001378609.3(OTOGL):c.1395-3T>C
|
rs374833540
|
0.00039
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00037
|
NM_000245.4(MET):c.901A>G (p.Thr301Ala)
|
rs201687037
|
0.00036
|
NM_016239.4(MYO15A):c.4153T>G (p.Ser1385Ala)
|
rs201246214
|
0.00036
|
NM_016239.4(MYO15A):c.4976G>A (p.Arg1659Gln)
|
rs141473928
|
0.00035
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00034
|
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly)
|
rs149843729
|
0.00034
|
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu)
|
rs186644871
|
0.00031
|
NM_001292063.2(OTOG):c.5480C>T (p.Ser1827Phe)
|
rs557079751
|
0.00031
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg)
|
rs142596580
|
0.00029
|
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg)
|
rs200392453
|
0.00028
|
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro)
|
rs563003848
|
0.00026
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00025
|
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile)
|
rs377156351
|
0.00024
|
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys)
|
rs373848470
|
0.00023
|
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val)
|
rs200249886
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_170682.4(P2RX2):c.381+2T>C
|
rs200978001
|
0.00022
|
NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu)
|
rs373698416
|
0.00021
|
NM_144991.3(TSPEAR):c.1856+19C>T
|
rs182590005
|
0.00020
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00019
|
NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser)
|
rs201693690
|
0.00019
|
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
|
rs111033199
|
0.00018
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_022124.6(CDH23):c.68-3C>T
|
rs142456469
|
0.00018
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_018429.3(BDP1):c.2804G>T (p.Arg935Ile)
|
rs200898204
|
0.00017
|
NM_174916.3(UBR1):c.947G>A (p.Arg316His)
|
rs147396426
|
0.00017
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_000245.4(MET):c.1771C>T (p.Arg591Trp)
|
rs45602940
|
0.00015
|
NM_000245.4(MET):c.40C>T (p.Leu14Phe)
|
rs763344951
|
0.00015
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00015
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00015
|
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys)
|
rs147106166
|
0.00015
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu)
|
rs958951917
|
0.00013
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_000245.4(MET):c.289C>G (p.Pro97Ala)
|
rs199736573
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
NM_001292063.2(OTOG):c.7057C>T (p.Arg2353Cys)
|
rs184461956
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_018006.5(TRMU):c.835G>A (p.Val279Met)
|
rs387907022
|
0.00011
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00010
|
NM_003672.4(CDC14A):c.1251-5C>T
|
rs375381230
|
0.00010
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
NM_000245.4(MET):c.2378G>A (p.Arg793His)
|
rs199643166
|
0.00009
|
NM_000245.4(MET):c.3236A>G (p.His1079Arg)
|
rs758292223
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_000245.4(MET):c.2543T>C (p.Val848Ala)
|
rs587782205
|
0.00008
|
NM_000245.4(MET):c.280G>C (p.Asp94His)
|
rs899151863
|
0.00008
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)
|
rs111033302
|
0.00008
|
NM_001199799.2(ILDR1):c.1312C>T (p.Pro438Ser)
|
rs554966703
|
0.00008
|
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)
|
rs374698153
|
0.00008
|
NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys)
|
rs746724027
|
0.00008
|
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00007
|
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu)
|
rs397517455
|
0.00007
|
NM_002160.4(TNC):c.2239C>T (p.Arg747Trp)
|
rs776411890
|
0.00007
|
NM_002160.4(TNC):c.2960C>T (p.Thr987Met)
|
rs778506429
|
0.00007
|
NM_004447.6(EPS8):c.871G>T (p.Ala291Ser)
|
rs202097537
|
0.00007
|
NM_144672.4(OTOA):c.268-677G>A
|
rs931046043
|
0.00007
|
NM_000245.4(MET):c.22G>A (p.Ala8Thr)
|
rs758564871
|
0.00006
|
NM_000245.4(MET):c.4075G>A (p.Val1359Ile)
|
rs752669237
|
0.00006
|
NM_000245.4(MET):c.818C>A (p.Thr273Asn)
|
rs368144654
|
0.00006
|
NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val)
|
rs761164010
|
0.00006
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
NM_001379180.1(ESRRB):c.*1604G>A
|
rs371116651
|
0.00006
|
NM_003672.4(CDC14A):c.1745G>A (p.Arg582His)
|
rs148639495
|
0.00006
|
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln)
|
rs769596933
|
0.00006
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
NM_138691.3(TMC1):c.339G>A (p.Met113Ile)
|
rs397517840
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_000245.4(MET):c.1019A>G (p.Asp340Gly)
|
rs200690492
|
0.00005
|
NM_000245.4(MET):c.105G>C (p.Met35Ile)
|
rs376244358
|
0.00005
|
NM_000245.4(MET):c.1063G>A (p.Glu355Lys)
|
rs561295443
|
0.00005
|
NM_000245.4(MET):c.1988C>T (p.Ser663Leu)
|
rs376459715
|
0.00005
|
NM_000245.4(MET):c.2674G>A (p.Val892Ile)
|
rs761243391
|
0.00005
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
0.00005
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00005
|
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)
|
rs1421964916
|
0.00005
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
0.00005
|
NM_001039141.3(TRIOBP):c.1195C>G (p.Arg399Gly)
|
rs750078356
|
0.00005
|
NM_001292063.2(OTOG):c.7090G>A (p.Asp2364Asn)
|
rs534951317
|
0.00005
|
NM_002700.3(POU4F3):c.295C>T (p.His99Tyr)
|
rs756195567
|
0.00005
|
NM_022124.6(CDH23):c.5113G>A (p.Gly1705Ser)
|
rs373164088
|
0.00005
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00005
|
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe)
|
rs150834957
|
0.00005
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00005
|
NM_000245.4(MET):c.1132G>A (p.Val378Ile)
|
rs749738523
|
0.00004
|
NM_000245.4(MET):c.142G>A (p.Ala48Thr)
|
rs374050750
|
0.00004
|
NM_000245.4(MET):c.1984A>G (p.Ile662Val)
|
rs765244598
|
0.00004
|
NM_000245.4(MET):c.2113A>G (p.Ser705Gly)
|
rs781110968
|
0.00004
|
NM_000245.4(MET):c.2342A>C (p.Glu781Ala)
|
rs771231484
|
0.00004
|
NM_000245.4(MET):c.2825C>T (p.Ser942Leu)
|
rs375576430
|
0.00004
|
NM_000245.4(MET):c.2909G>A (p.Arg970His)
|
rs45607832
|
0.00004
|
NM_000245.4(MET):c.3118T>C (p.Ser1040Pro)
|
rs771328219
|
0.00004
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
NM_004004.6(GJB2):c.37G>A (p.Val13Met)
|
rs768130937
|
0.00004
|
NM_024678.6(NARS2):c.844G>A (p.Ala282Thr)
|
rs146900529
|
0.00004
|
NM_153676.4(USH1C):c.760-1G>T
|
rs1187887456
|
0.00004
|
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)
|
rs80356593
|
0.00004
|
NM_000245.4(MET):c.1408T>A (p.Ser470Thr)
|
rs1484724510
|
0.00003
|
NM_000245.4(MET):c.1510G>T (p.Val504Phe)
|
rs587780735
|
0.00003
|
NM_000245.4(MET):c.1810C>G (p.Leu604Val)
|
rs201861645
|
0.00003
|
NM_000245.4(MET):c.2325G>T (p.Met775Ile)
|
rs748086754
|
0.00003
|
NM_000245.4(MET):c.2755G>A (p.Val919Ile)
|
rs759522148
|
0.00003
|
NM_000245.4(MET):c.3221G>A (p.Ser1074Asn)
|
rs752641437
|
0.00003
|
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala)
|
rs201037977
|
0.00003
|
NM_000245.4(MET):c.341A>T (p.Asp114Val)
|
rs773659883
|
0.00003
|
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)
|
rs369312680
|
0.00003
|
NM_000245.4(MET):c.4016C>T (p.Ala1339Val)
|
rs1453842331
|
0.00003
|
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)
|
rs768188910
|
0.00003
|
NM_000245.4(MET):c.762A>C (p.Glu254Asp)
|
rs760278126
|
0.00003
|
NM_000245.4(MET):c.788C>T (p.Thr263Met)
|
rs764052874
|
0.00003
|
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)
|
rs747636919
|
0.00003
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
|
rs121908363
|
0.00003
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter)
|
rs979094623
|
0.00003
|
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)
|
rs886044666
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_005422.4(TECTA):c.5515G>A (p.Gly1839Ser)
|
rs376271495
|
0.00003
|
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys)
|
rs200528166
|
0.00003
|
NM_015205.3(ATP11A):c.80A>G (p.Tyr27Cys)
|
rs200309535
|
0.00003
|
NM_031475.3(ESPN):c.1426A>C (p.Lys476Gln)
|
rs552715518
|
0.00003
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
NM_000245.4(MET):c.1081G>T (p.Ala361Ser)
|
rs786202310
|
0.00002
|
NM_000245.4(MET):c.1234C>T (p.Arg412Cys)
|
rs367628460
|
0.00002
|
NM_000245.4(MET):c.13G>A (p.Ala5Thr)
|
rs765444467
|
0.00002
|
NM_000245.4(MET):c.1532C>T (p.Thr511Met)
|
rs371124109
|
0.00002
|
NM_000245.4(MET):c.1636G>A (p.Val546Met)
|
rs774462373
|
0.00002
|
NM_000245.4(MET):c.2377C>T (p.Arg793Cys)
|
rs45440991
|
0.00002
|
NM_000245.4(MET):c.2455G>A (p.Ala819Thr)
|
rs786203672
|
0.00002
|
NM_000245.4(MET):c.2723A>G (p.Asn908Ser)
|
rs1478309975
|
0.00002
|
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys)
|
rs45628136
|
0.00002
|
NM_000245.4(MET):c.3880G>A (p.Val1294Ile)
|
rs1263785859
|
0.00002
|
NM_000245.4(MET):c.4011A>G (p.Ile1337Met)
|
rs376418811
|
0.00002
|
NM_000245.4(MET):c.743A>T (p.Lys248Met)
|
rs769181927
|
0.00002
|
NM_000245.4(MET):c.799G>A (p.Glu267Lys)
|
rs755954919
|
0.00002
|
NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln)
|
rs782410686
|
0.00002
|
NM_000441.2(SLC26A4):c.1149+3A>G
|
rs111033314
|
0.00002
|
NM_000441.2(SLC26A4):c.1341+1G>C
|
rs376653349
|
0.00002
|
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)
|
rs747076316
|
0.00002
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
NM_000441.2(SLC26A4):c.165-1G>A
|
rs759792660
|
0.00002
|
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
NM_000441.2(SLC26A4):c.1707+5G>A
|
rs192366176
|
0.00002
|
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)
|
rs368119540
|
0.00002
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00002
|
NM_001145809.2(MYH14):c.491G>C (p.Gly164Ala)
|
rs774773452
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001304438.2(TMEM132E):c.2730C>G (p.Ile910Met)
|
rs763524517
|
0.00002
|
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val)
|
rs774172292
|
0.00002
|
NM_001384140.1(PCDH15):c.2751+2T>C
|
rs754543131
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004526.4(MCM2):c.1447C>T (p.Pro483Ser)
|
rs767616299
|
0.00002
|
NM_004700.4(KCNQ4):c.1565C>T (p.Thr522Met)
|
rs748693577
|
0.00002
|
NM_012478.4(WBP2):c.466C>G (p.Pro156Ala)
|
rs773715692
|
0.00002
|
NM_018006.5(TRMU):c.1102-3C>G
|
rs753039116
|
0.00002
|
NM_018006.5(TRMU):c.249-2A>G
|
rs768299416
|
0.00002
|
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
|
rs764622793
|
0.00002
|
NM_018006.5(TRMU):c.96_97del (p.Phe35fs)
|
rs762738569
|
0.00002
|
NM_018006.5(TRMU):c.994C>T (p.Arg332Ter)
|
rs759790041
|
0.00002
|
NM_022124.6(CDH23):c.7706G>A (p.Arg2569Gln)
|
rs769627991
|
0.00002
|
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
|
rs763119683
|
0.00002
|
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg)
|
rs1318691269
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_000245.4(MET):c.1250G>A (p.Arg417Gln)
|
rs2116780504
|
0.00001
|
NM_000245.4(MET):c.1406G>A (p.Arg469Gln)
|
rs752842662
|
0.00001
|
NM_000245.4(MET):c.143C>G (p.Ala48Gly)
|
rs80256822
|
0.00001
|
NM_000245.4(MET):c.1450C>T (p.His484Tyr)
|
rs771272439
|
0.00001
|
NM_000245.4(MET):c.1451A>G (p.His484Arg)
|
rs781545528
|
0.00001
|
NM_000245.4(MET):c.146A>G (p.Glu49Gly)
|
rs370499060
|
0.00001
|
NM_000245.4(MET):c.1472T>C (p.Ile491Thr)
|
rs561588772
|
0.00001
|
NM_000245.4(MET):c.1477G>C (p.Glu493Gln)
|
rs965319455
|
0.00001
|
NM_000245.4(MET):c.1484C>G (p.Thr495Arg)
|
rs45585831
|
0.00001
|
NM_000245.4(MET):c.1610A>G (p.Gln537Arg)
|
rs2116835879
|
0.00001
|
NM_000245.4(MET):c.1627G>A (p.Asp543Asn)
|
rs763991073
|
0.00001
|
NM_000245.4(MET):c.1772G>A (p.Arg591Gln)
|
rs775965879
|
0.00001
|
NM_000245.4(MET):c.1786T>A (p.Phe596Ile)
|
rs879254332
|
0.00001
|
NM_000245.4(MET):c.1858A>G (p.Asn620Asp)
|
rs372116735
|
0.00001
|
NM_000245.4(MET):c.200C>A (p.Thr67Asn)
|
rs200023903
|
0.00001
|
NM_000245.4(MET):c.2128T>C (p.Tyr710His)
|
rs1794273981
|
0.00001
|
NM_000245.4(MET):c.215T>C (p.Val72Ala)
|
rs973796037
|
0.00001
|
NM_000245.4(MET):c.2278A>G (p.Ile760Val)
|
rs786202191
|
0.00001
|
NM_000245.4(MET):c.230A>C (p.Asp77Ala)
|
rs761221409
|
0.00001
|
NM_000245.4(MET):c.2333A>C (p.Asn778Thr)
|
rs1205392044
|
0.00001
|
NM_000245.4(MET):c.2362G>A (p.Val788Met)
|
rs1489302008
|
0.00001
|
NM_000245.4(MET):c.2432T>A (p.Leu811Gln)
|
rs1554396554
|
0.00001
|
NM_000245.4(MET):c.2440C>A (p.Pro814Thr)
|
rs1052270861
|
0.00001
|
NM_000245.4(MET):c.2471A>G (p.Asp824Gly)
|
rs1446482547
|
0.00001
|
NM_000245.4(MET):c.2528C>G (p.Pro843Arg)
|
rs762228405
|
0.00001
|
NM_000245.4(MET):c.2547G>C (p.Met849Ile)
|
rs747989932
|
0.00001
|
NM_000245.4(MET):c.2677T>A (p.Leu893Ile)
|
rs376104371
|
0.00001
|
NM_000245.4(MET):c.2698C>G (p.Leu900Val)
|
rs1398243931
|
0.00001
|
NM_000245.4(MET):c.2710A>T (p.Asn904Tyr)
|
rs1313347428
|
0.00001
|
NM_000245.4(MET):c.2795C>T (p.Thr932Ile)
|
rs758486777
|
0.00001
|
NM_000245.4(MET):c.2802G>C (p.Leu934Phe)
|
rs1361155132
|
0.00001
|
NM_000245.4(MET):c.3107C>T (p.Thr1036Ile)
|
rs758440368
|
0.00001
|
NM_000245.4(MET):c.3151G>C (p.Val1051Leu)
|
rs775997318
|
0.00001
|
NM_000245.4(MET):c.3208G>A (p.Val1070Met)
|
rs760285693
|
0.00001
|
NM_000245.4(MET):c.3377C>A (p.Thr1126Asn)
|
rs367634278
|
0.00001
|
NM_000245.4(MET):c.3422C>T (p.Ser1141Leu)
|
rs375395179
|
0.00001
|
NM_000245.4(MET):c.3443G>A (p.Arg1148Gln)
|
rs761808213
|
0.00001
|
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln)
|
rs369838973
|
0.00001
|
NM_000245.4(MET):c.356C>T (p.Ala119Val)
|
rs904162290
|
0.00001
|
NM_000245.4(MET):c.3586G>A (p.Ala1196Thr)
|
rs970206545
|
0.00001
|
NM_000245.4(MET):c.38T>C (p.Val13Ala)
|
rs748776466
|
0.00001
|
NM_000245.4(MET):c.3973G>A (p.Glu1325Lys)
|
rs587778444
|
0.00001
|
NM_000245.4(MET):c.3983C>T (p.Pro1328Leu)
|
rs755043272
|
0.00001
|
NM_000245.4(MET):c.3997C>G (p.Leu1333Val)
|
rs758738756
|
0.00001
|
NM_000245.4(MET):c.4060G>A (p.Ala1354Thr)
|
rs761522694
|
0.00001
|
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr)
|
rs758486336
|
0.00001
|
NM_000245.4(MET):c.4154C>A (p.Ser1385Tyr)
|
rs764303128
|
0.00001
|
NM_000245.4(MET):c.62G>A (p.Arg21Lys)
|
rs964356368
|
0.00001
|
NM_000245.4(MET):c.65G>T (p.Ser22Ile)
|
rs587780739
|
0.00001
|
NM_000245.4(MET):c.689C>T (p.Thr230Met)
|
rs587780740
|
0.00001
|
NM_000245.4(MET):c.704T>C (p.Ile235Thr)
|
rs1060503530
|
0.00001
|
NM_000245.4(MET):c.716C>T (p.Pro239Leu)
|
rs45551737
|
0.00001
|
NM_000245.4(MET):c.808G>C (p.Asp270His)
|
rs1060503542
|
0.00001
|
NM_000245.4(MET):c.821T>C (p.Phe274Ser)
|
rs758569834
|
0.00001
|
NM_000245.4(MET):c.839G>C (p.Arg280Thr)
|
rs770528254
|
0.00001
|
NM_000245.4(MET):c.840G>T (p.Arg280Ser)
|
rs1207381066
|
0.00001
|
NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His)
|
rs1241956038
|
0.00001
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
NM_000441.2(SLC26A4):c.1150-1G>A
|
rs1791525285
|
0.00001
|
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)
|
rs201562855
|
0.00001
|
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)
|
rs147952620
|
0.00001
|
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)
|
rs1293971731
|
0.00001
|
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)
|
rs142498437
|
0.00001
|
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)
|
rs397516416
|
0.00001
|
NM_000441.2(SLC26A4):c.1614+1G>A
|
rs111033312
|
0.00001
|
NM_000441.2(SLC26A4):c.1615-2A>G
|
rs758823761
|
0.00001
|
NM_000441.2(SLC26A4):c.164+2T>C
|
rs397516420
|
0.00001
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
NM_000441.2(SLC26A4):c.1708-1G>A
|
rs759414956
|
0.00001
|
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)
|
rs111033200
|
0.00001
|
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
|
rs760352870
|
0.00001
|
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)
|
rs397516424
|
0.00001
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
NM_000441.2(SLC26A4):c.1984dup (p.Cys662fs)
|
rs1271700356
|
0.00001
|
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn)
|
rs777641484
|
0.00001
|
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)
|
rs749013429
|
0.00001
|
NM_000441.2(SLC26A4):c.2034+1G>T
|
rs759683649
|
0.00001
|
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)
|
rs1060499808
|
0.00001
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)
|
rs1045933779
|
0.00001
|
NM_000441.2(SLC26A4):c.2319+1G>A
|
rs542079779
|
0.00001
|
NM_000441.2(SLC26A4):c.2320-2A>G
|
rs1275029034
|
0.00001
|
NM_000441.2(SLC26A4):c.349del (p.Leu117fs)
|
rs1275009555
|
0.00001
|
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)
|
rs760413427
|
0.00001
|
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)
|
rs1205712508
|
0.00001
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00001
|
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)
|
rs539699299
|
0.00001
|
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
NM_000601.6(HGF):c.6G>T (p.Trp2Cys)
|
rs745851853
|
0.00001
|
NM_001039213.4(CEACAM16):c.245C>T (p.Thr82Met)
|
rs776527204
|
0.00001
|
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
|
rs774844858
|
0.00001
|
NM_001145809.2(MYH14):c.2839C>T (p.Arg947Cys)
|
rs757658628
|
0.00001
|
NM_001195263.2(PDZD7):c.1750-2A>G
|
rs747536638
|
0.00001
|
NM_001292063.2(OTOG):c.1148A>G (p.Tyr383Cys)
|
rs1007369140
|
0.00001
|
NM_001292063.2(OTOG):c.5696C>A (p.Ser1899Tyr)
|
rs894980888
|
0.00001
|
NM_001292063.2(OTOG):c.6334G>A (p.Asp2112Asn)
|
rs1314382019
|
0.00001
|
NM_001292063.2(OTOG):c.7121G>A (p.Cys2374Tyr)
|
rs1017790030
|
0.00001
|
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His)
|
rs867315415
|
0.00001
|
NM_001378609.3(OTOGL):c.3931C>T (p.His1311Tyr)
|
rs1230531336
|
0.00001
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
0.00001
|
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter)
|
rs1264383341
|
0.00001
|
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)
|
rs727504301
|
0.00001
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter)
|
rs2092876200
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)
|
rs754391973
|
0.00001
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
0.00001
|
NM_001384140.1(PCDH15):c.3373+1G>A
|
rs2085799827
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.3806+2T>C
|
rs756692340
|
0.00001
|
NM_001384140.1(PCDH15):c.3807-2A>G
|
rs1328440878
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter)
|
rs779165268
|
0.00001
|
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile)
|
rs756490783
|
0.00001
|
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)
|
rs1384677442
|
0.00001
|
NM_001384140.1(PCDH15):c.571del (p.Ile191fs)
|
rs1480320128
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile)
|
rs866017859
|
0.00001
|
NM_001384474.1(LOXHD1):c.5656T>A (p.Ser1886Thr)
|
rs1433984656
|
0.00001
|
NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp)
|
rs1650496598
|
0.00001
|
NM_002160.4(TNC):c.1580G>C (p.Cys527Ser)
|
rs746843738
|
0.00001
|
NM_002473.6(MYH9):c.4564G>A (p.Glu1522Lys)
|
rs2016637668
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004526.4(MCM2):c.1231G>A (p.Glu411Lys)
|
rs373695678
|
0.00001
|
NM_004839.4(HOMER2):c.130A>G (p.Ser44Gly)
|
rs1308445013
|
0.00001
|
NM_005422.4(TECTA):c.4494C>A (p.Phe1498Leu)
|
rs374996667
|
0.00001
|
NM_005709.4(USH1C):c.1211-3_1232del
|
rs1246699436
|
0.00001
|
NM_016239.4(MYO15A):c.2452C>A (p.Arg818Ser)
|
rs1424289379
|
0.00001
|
NM_016239.4(MYO15A):c.5962G>A (p.Glu1988Lys)
|
rs749019041
|
0.00001
|
NM_016239.4(MYO15A):c.8812G>A (p.Gly2938Arg)
|
rs780884451
|
0.00001
|
NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp)
|
rs776415168
|
0.00001
|
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter)
|
rs1174791046
|
0.00001
|
NM_018006.5(TRMU):c.4C>T (p.Gln2Ter)
|
rs1464059546
|
0.00001
|
NM_018006.5(TRMU):c.692_705dup (p.Tyr236fs)
|
rs755646665
|
0.00001
|
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter)
|
rs367683258
|
0.00001
|
NM_018006.5(TRMU):c.803del (p.Ala268fs)
|
rs745338284
|
0.00001
|
NM_018006.5(TRMU):c.83-2A>G
|
rs747853875
|
0.00001
|
NM_022124.6(CDH23):c.1847A>G (p.Glu616Gly)
|
rs763577236
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022772.4(EPS8L2):c.206C>T (p.Thr69Met)
|
rs1481107650
|
0.00001
|
NM_022772.4(EPS8L2):c.779A>G (p.Asn260Ser)
|
rs940188070
|
0.00001
|
NM_025257.3(SLC44A4):c.997C>T (p.Arg333Trp)
|
rs751632783
|
0.00001
|
NM_033109.5(PNPT1):c.2106G>C (p.Met702Ile)
|
rs148804101
|
0.00001
|
NM_080680.3(COL11A2):c.1510C>T (p.Pro504Ser)
|
rs765609390
|
0.00001
|
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
|
rs121908073
|
0.00001
|
NM_144672.4(OTOA):c.1049T>C (p.Leu350Pro)
|
rs1429567593
|
0.00001
|
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp)
|
rs28941781
|
0.00001
|
NM_153676.4(USH1C):c.1030G>T (p.Glu344Ter)
|
rs1278026061
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.2281-2A>G
|
rs921755529
|
0.00001
|
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
|
rs758555088
|
0.00001
|
NM_153676.4(USH1C):c.249-1G>A
|
rs1850962546
|
0.00001
|
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)
|
rs1317951509
|
0.00001
|
NM_153676.4(USH1C):c.375del (p.Ser125fs)
|
rs756032457
|
0.00001
|
NM_153676.4(USH1C):c.387+1G>A
|
rs1850950786
|
0.00001
|
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)
|
rs377145777
|
0.00001
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085
|
0.00001
|
NM_153676.4(USH1C):c.586C>T (p.Arg196Ter)
|
rs1290295453
|
0.00001
|
NM_153676.4(USH1C):c.658C>T (p.Arg220Ter)
|
rs766327614
|
0.00001
|
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter)
|
rs1223763703
|
0.00001
|
NM_153676.4(USH1C):c.877-1G>A
|
rs771279169
|
0.00001
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn)
|
rs774929350
|
0.00001
|
NM_198999.3(SLC26A5):c.92G>C (p.Arg31Thr)
|
rs1346488074
|
0.00001
|
GRCh37/hg19 15q15.3(chr15:43890409-43939642)
|
|
|
GRCh37/hg19 15q15.3(chr15:43891364-43939659)
|
|
|
NM_000245.4(MET):c.1008C>G (p.Ser336Arg)
|
rs1584878137
|
|
NM_000245.4(MET):c.1046G>A (p.Ser349Asn)
|
rs1584878246
|
|
NM_000245.4(MET):c.1056T>G (p.Asp352Glu)
|
rs2116604421
|
|
NM_000245.4(MET):c.105G>T (p.Met35Ile)
|
rs376244358
|
|
NM_000245.4(MET):c.1063G>C (p.Glu355Gln)
|
rs561295443
|
|
NM_000245.4(MET):c.1090G>A (p.Ala364Thr)
|
rs200016433
|
|
NM_000245.4(MET):c.1114G>A (p.Asp372Asn)
|
rs773200558
|
|
NM_000245.4(MET):c.1136A>G (p.Asn379Ser)
|
rs1320718414
|
|
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)
|
rs886061943
|
|
NM_000245.4(MET):c.1268C>A (p.Ala423Asp)
|
rs2116781001
|
|
NM_000245.4(MET):c.1312C>G (p.Leu438Val)
|
rs587780733
|
|
NM_000245.4(MET):c.1330A>G (p.Thr444Ala)
|
rs2116782829
|
|
NM_000245.4(MET):c.1347C>A (p.Asp449Glu)
|
rs2116783251
|
|
NM_000245.4(MET):c.135C>G (p.Asn45Lys)
|
rs1562883006
|
|
NM_000245.4(MET):c.1363C>A (p.Leu455Ile)
|
rs780077898
|
|
NM_000245.4(MET):c.1388T>C (p.Met463Thr)
|
rs1584914382
|
|
NM_000245.4(MET):c.1421C>A (p.Thr474Asn)
|
rs1554390902
|
|
NM_000245.4(MET):c.1427A>T (p.His476Leu)
|
rs2485637914
|
|
NM_000245.4(MET):c.1430T>A (p.Val477Glu)
|
rs1197127761
|
|
NM_000245.4(MET):c.1459T>A (p.Ser487Thr)
|
rs1584922045
|
|
NM_000245.4(MET):c.146A>C (p.Glu49Ala)
|
rs370499060
|
|
NM_000245.4(MET):c.1568T>C (p.Phe523Ser)
|
rs1793420216
|
|
NM_000245.4(MET):c.1597C>A (p.Pro533Thr)
|
rs1793422040
|
|
NM_000245.4(MET):c.16G>T (p.Val6Leu)
|
rs1395233386
|
|
NM_000245.4(MET):c.1789G>C (p.Asp597His)
|
rs769073123
|
|
NM_000245.4(MET):c.1789G>T (p.Asp597Tyr)
|
rs769073123
|
|
NM_000245.4(MET):c.1801A>G (p.Thr601Ala)
|
rs1216005099
|
|
NM_000245.4(MET):c.181C>G (p.His61Asp)
|
rs368942722
|
|
NM_000245.4(MET):c.184A>G (p.Ile62Val)
|
rs2485506452
|
|
NM_000245.4(MET):c.1867A>C (p.Lys623Gln)
|
rs2116919707
|
|
NM_000245.4(MET):c.1898A>T (p.His633Leu)
|
rs45586239
|
|
NM_000245.4(MET):c.191T>C (p.Leu64Pro)
|
rs1791466202
|
|
NM_000245.4(MET):c.194G>T (p.Gly65Val)
|
rs1381554784
|
|
NM_000245.4(MET):c.2015G>A (p.Gly672Asp)
|
rs2116923826
|
|
NM_000245.4(MET):c.2101A>C (p.Ser701Arg)
|
rs2116925486
|
|
NM_000245.4(MET):c.2131A>T (p.Thr711Ser)
|
rs2485719794
|
|
NM_000245.4(MET):c.229G>A (p.Asp77Asn)
|
rs372320153
|
|
NM_000245.4(MET):c.2363T>A (p.Val788Glu)
|
rs786204142
|
|
NM_000245.4(MET):c.2375A>C (p.His792Pro)
|
rs980467681
|
|
NM_000245.4(MET):c.2389G>A (p.Glu797Lys)
|
rs1307693651
|
|
NM_000245.4(MET):c.2396_2404del (p.Ile799_Cys801del)
|
rs2485740585
|
|
NM_000245.4(MET):c.2488T>C (p.Tyr830His)
|
rs1794468017
|
|
NM_000245.4(MET):c.2510A>G (p.His837Arg)
|
rs1041349799
|
|
NM_000245.4(MET):c.2528C>T (p.Pro843Leu)
|
rs762228405
|
|
NM_000245.4(MET):c.2555T>C (p.Met852Thr)
|
rs369758288
|
|
NM_000245.4(MET):c.2588A>G (p.Asn863Ser)
|
rs1794766796
|
|
NM_000245.4(MET):c.2608G>A (p.Val870Ile)
|
rs2485766727
|
|
NM_000245.4(MET):c.2662C>G (p.His888Asp)
|
rs115574135
|
|
NM_000245.4(MET):c.278C>G (p.Pro93Arg)
|
rs1306740707
|
|
NM_000245.4(MET):c.2821A>G (p.Ile941Val)
|
rs751909630
|
|
NM_000245.4(MET):c.2960G>A (p.Arg987Gln)
|
rs910937816
|
|
NM_000245.4(MET):c.2983A>G (p.Met995Val)
|
rs1794849768
|
|
NM_000245.4(MET):c.298G>C (p.Asp100His)
|
rs1554378400
|
|
NM_000245.4(MET):c.3035T>C (p.Phe1012Ser)
|
rs1794945602
|
|
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu)
|
rs45612435
|
|
NM_000245.4(MET):c.3109A>G (p.Ser1037Gly)
|
rs1794948966
|
|
NM_000245.4(MET):c.3212T>C (p.Ile1071Thr)
|
rs2117031830
|
|
NM_000245.4(MET):c.3296A>G (p.Asp1099Gly)
|
rs780431412
|
|
NM_000245.4(MET):c.3304G>A (p.Gly1102Ser)
|
rs2117040123
|
|
NM_000245.4(MET):c.3307A>G (p.Lys1103Glu)
|
rs1347737002
|
|
NM_000245.4(MET):c.3352A>G (p.Ile1118Val)
|
rs755234697
|
|
NM_000245.4(MET):c.348C>G (p.Ile116Met)
|
rs2116586543
|
|
NM_000245.4(MET):c.3493C>T (p.Leu1165Phe)
|
rs2117047923
|
|
NM_000245.4(MET):c.3520C>T (p.His1174Tyr)
|
rs1795074297
|
|
NM_000245.4(MET):c.3545T>C (p.Ile1182Thr)
|
rs1795171887
|
|
NM_000245.4(MET):c.3656A>G (p.Lys1219Arg)
|
rs2117065573
|
|
NM_000245.4(MET):c.3682G>T (p.Asp1228Tyr)
|
rs121913671
|
|
NM_000245.4(MET):c.3748A>T (p.Met1250Leu)
|
rs2117066995
|
|
NM_000245.4(MET):c.3781A>T (p.Thr1261Ser)
|
rs45595632
|
|
NM_000245.4(MET):c.37G>T (p.Val13Leu)
|
rs781777052
|
|
NM_000245.4(MET):c.3943G>A (p.Val1315Ile)
|
rs2117110480
|
|
NM_000245.4(MET):c.4015G>C (p.Ala1339Pro)
|
rs1795658722
|
|
NM_000245.4(MET):c.401G>A (p.Gly134Asp)
|
rs2116587889
|
|
NM_000245.4(MET):c.4055T>A (p.Val1352Glu)
|
rs2117112186
|
|
NM_000245.4(MET):c.4066T>C (p.Tyr1356His)
|
rs2117112406
|
|
NM_000245.4(MET):c.4078A>G (p.Lys1360Glu)
|
rs1795661591
|
|
NM_000245.4(MET):c.4115A>C (p.Glu1372Ala)
|
rs1584978594
|
|
NM_000245.4(MET):c.4141A>G (p.Thr1381Ala)
|
rs1292389793
|
|
NM_000245.4(MET):c.4145G>C (p.Arg1382Pro)
|
rs752694306
|
|
NM_000245.4(MET):c.539T>A (p.Leu180Gln)
|
rs2485510409
|
|
NM_000245.4(MET):c.541G>A (p.Gly181Arg)
|
rs779040487
|
|
NM_000245.4(MET):c.611C>T (p.Ser204Phe)
|
rs2485511135
|
|
NM_000245.4(MET):c.640A>G (p.Ile214Val)
|
rs786203065
|
|
NM_000245.4(MET):c.654G>T (p.Arg218Ser)
|
rs35284565
|
|
NM_000245.4(MET):c.683T>C (p.Phe228Ser)
|
rs2116595259
|
|
NM_000245.4(MET):c.721T>C (p.Phe241Leu)
|
rs746216803
|
|
NM_000245.4(MET):c.768C>A (p.Asn256Lys)
|
rs1221580502
|
|
NM_000245.4(MET):c.803C>A (p.Thr268Asn)
|
rs757427533
|
|
NM_000245.4(MET):c.803C>G (p.Thr268Ser)
|
rs757427533
|
|
NM_000245.4(MET):c.916A>C (p.Lys306Gln)
|
rs1032682239
|
|
NM_000245.4(MET):c.925A>C (p.Thr309Pro)
|
rs35601148
|
|
NM_000245.4(MET):c.949C>A (p.Leu317Ile)
|
rs750531377
|
|
NM_000245.4(MET):c.982C>A (p.Gln328Lys)
|
rs2116602510
|
|
NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr)
|
rs1954489249
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2573G>A (p.Arg858His)
|
rs782428224
|
|
NM_000260.4(MYO7A):c.3226G>A (p.Glu1076Lys)
|
rs1955328510
|
|
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile)
|
rs1555090314
|
|
NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs)
|
rs1955999847
|
|
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro)
|
rs1385324903
|
|
NM_000441.1(SLC26A4):c.1342-2_1343dup
|
rs111033407
|
|
NM_000441.2(SLC26A4):c.1001+1G>T
|
rs80338849
|
|
NM_000441.2(SLC26A4):c.1001+4A>G
|
rs1262298247
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1002-2A>G
|
rs2535317559
|
|
NM_000441.2(SLC26A4):c.1002-4C>G
|
rs2129315781
|
|
NM_000441.2(SLC26A4):c.1002del
|
rs2535317564
|
|
NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val)
|
rs111033212
|
|
NM_000441.2(SLC26A4):c.1022dup (p.Pro342fs)
|
rs2535317617
|
|
NM_000441.2(SLC26A4):c.1097_1098del (p.Ser366fs)
|
rs2535317832
|
|
NM_000441.2(SLC26A4):c.1149+1G>A
|
rs2535317969
|
|
NM_000441.2(SLC26A4):c.1150-1G>T
|
rs1791525285
|
|
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val)
|
rs777333979
|
|
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs)
|
rs1554358720
|
|
NM_000441.2(SLC26A4):c.1172G>A (p.Ser391Asn)
|
rs1791526110
|
|
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del)
|
rs777008062
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)
|
rs397516414
|
|
NM_000441.2(SLC26A4):c.1216_1218delinsC (p.Ala406fs)
|
rs2535319425
|
|
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)
|
rs111033305
|
|
NM_000441.2(SLC26A4):c.1226G>T (p.Arg409Leu)
|
rs111033305
|
|
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe)
|
rs111033527
|
|
NM_000441.2(SLC26A4):c.1261C>T (p.Gln421Ter)
|
rs781731620
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1263+1G>A
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1263+1G>T
|
rs1057517000
|
|
NM_000441.2(SLC26A4):c.1264-12T>A
|
rs2129316889
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
NM_000441.2(SLC26A4):c.1264G>A (p.Val422Ile)
|
rs2535326455
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs)
|
rs1584292992
|
|
NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter)
|
rs1562835480
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
NM_000441.2(SLC26A4):c.1341+1del
|
rs397516417
|
|
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter)
|
rs747076316
|
|
NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs)
|
rs1791686622
|
|
NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile)
|
rs1482605370
|
|
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)
|
rs1554359670
|
|
NM_000441.2(SLC26A4):c.1377del (p.Met461fs)
|
rs2535327391
|
|
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)
|
rs201636911
|
|
NM_000441.2(SLC26A4):c.1437+2T>G
|
rs397516418
|
|
NM_000441.2(SLC26A4):c.1449del (p.Phe484fs)
|
rs2535329349
|
|
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs)
|
rs1584331188
|
|
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
|
rs786204601
|
|
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)
|
rs727505088
|
|
NM_000441.2(SLC26A4):c.1536_1537del (p.Arg512fs)
|
rs1435734312
|
|
NM_000441.2(SLC26A4):c.1544+1G>T
|
rs876657722
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
NM_000441.2(SLC26A4):c.1549del (p.Ser517fs)
|
rs2535332449
|
|
NM_000441.2(SLC26A4):c.1553G>A (p.Trp518Ter)
|
rs2535332468
|
|
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)
|
rs727503428
|
|
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu)
|
rs765197819
|
|
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)
|
rs1554360358
|
|
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile)
|
rs1057516243
|
|
NM_000441.2(SLC26A4):c.1614+1G>T
|
rs111033312
|
|
NM_000441.2(SLC26A4):c.1614+1del
|
rs2535332621
|
|
NM_000441.2(SLC26A4):c.1615-1G>T
|
rs2535335265
|
|
NM_000441.2(SLC26A4):c.1615A>G (p.Ile539Val)
|
rs968273154
|
|
NM_000441.2(SLC26A4):c.1629del (p.Gly544fs)
|
rs1354286313
|
|
NM_000441.2(SLC26A4):c.164+1G>T
|
rs1021962985
|
|
NM_000441.2(SLC26A4):c.164+1del
|
rs786204504
|
|
NM_000441.2(SLC26A4):c.164+2T>G
|
rs397516420
|
|
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)
|
rs1554360678
|
|
NM_000441.2(SLC26A4):c.1673del (p.Asn558fs)
|
rs2535335393
|
|
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)
|
rs746427774
|
|
NM_000441.2(SLC26A4):c.1707+2T>C
|
rs1554360707
|
|
NM_000441.2(SLC26A4):c.1707+4_1707+7del
|
rs770273286
|
|
NM_000441.2(SLC26A4):c.1708-1G>T
|
rs759414956
|
|
NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr)
|
rs2535336810
|
|
NM_000441.2(SLC26A4):c.1765C>T (p.Gln589Ter)
|
rs1473339827
|
|
NM_000441.2(SLC26A4):c.1803+2T>C
|
rs768454870
|
|
NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)
|
rs2535338130
|
|
NM_000441.2(SLC26A4):c.1905_1906del (p.Glu635fs)
|
rs763203596
|
|
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)
|
rs2129318281
|
|
NM_000441.2(SLC26A4):c.2026del (p.Leu676fs)
|
rs2129318299
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
NM_000441.2(SLC26A4):c.2035-2A>C
|
rs748722289
|
|
NM_000441.2(SLC26A4):c.2035-2A>G
|
rs748722289
|
|
NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro)
|
rs749712560
|
|
NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)
|
rs2535341650
|
|
NM_000441.2(SLC26A4):c.2089+1G>T
|
rs727503430
|
|
NM_000441.2(SLC26A4):c.2113C>T (p.Gln705Ter)
|
rs2535349697
|
|
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)
|
rs142656144
|
|
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)
|
rs786204523
|
|
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)
|
rs397516427
|
|
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)
|
rs1417146153
|
|
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs)
|
rs1792142540
|
|
NM_000441.2(SLC26A4):c.2215dup (p.Gln739fs)
|
rs2535350020
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)
|
rs1388888912
|
|
NM_000441.2(SLC26A4):c.2248C>T (p.Gln750Ter)
|
rs2535353077
|
|
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser)
|
rs1554352676
|
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)
|
rs1057516658
|
|
NM_000441.2(SLC26A4):c.25G>T (p.Glu9Ter)
|
rs758648839
|
|
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)
|
rs370588279
|
|
NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg)
|
rs2129309202
|
|
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)
|
rs1057516953
|
|
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu)
|
rs2129309208
|
|
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)
|
rs111033241
|
|
NM_000441.2(SLC26A4):c.304+2T>C
|
rs746238617
|
|
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)
|
rs1219724284
|
|
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)
|
rs1409565648
|
|
NM_000441.2(SLC26A4):c.338del (p.Val113fs)
|
rs2535293656
|
|
NM_000441.2(SLC26A4):c.346G>A (p.Gly116Ser)
|
rs2535293661
|
|
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)
|
rs786204730
|
|
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)
|
rs984967571
|
|
NM_000441.2(SLC26A4):c.387del (p.Phe130fs)
|
rs2129311265
|
|
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)
|
rs111033199
|
|
NM_000441.2(SLC26A4):c.412_415+21delinsTGACA
|
rs2535293821
|
|
NM_000441.2(SLC26A4):c.414del (p.Gly139fs)
|
rs1562822698
|
|
NM_000441.2(SLC26A4):c.416-1G>A
|
rs1057516988
|
|
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.508_509del (p.Val170fs)
|
rs2535296384
|
|
NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)
|
rs2535296401
|
|
NM_000441.2(SLC26A4):c.574del (p.Ala191_Leu192insTer)
|
rs2535296566
|
|
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)
|
rs780123768
|
|
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)
|
rs111033380
|
|
NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)
|
rs2535296624
|
|
NM_000441.2(SLC26A4):c.600+2T>A
|
rs1057516881
|
|
NM_000441.2(SLC26A4):c.601-2A>T
|
rs1406937547
|
|
NM_000441.2(SLC26A4):c.642del (p.Leu215fs)
|
rs2535297456
|
|
NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser)
|
rs2535297502
|
|
NM_000441.2(SLC26A4):c.679G>C (p.Ala227Pro)
|
rs2535297516
|
|
NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)
|
rs767477168
|
|
NM_000441.2(SLC26A4):c.735_739delinsTGTTTCA (p.Lys245fs)
|
rs2535297597
|
|
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)
|
rs918684449
|
|
NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs)
|
rs750365180
|
|
NM_000441.2(SLC26A4):c.783dup (p.Gln262fs)
|
rs1395993186
|
|
NM_000441.2(SLC26A4):c.839del (p.Val280fs)
|
rs2535310165
|
|
NM_000441.2(SLC26A4):c.890del (p.Pro297fs)
|
rs786204600
|
|
NM_000441.2(SLC26A4):c.918+1G>T
|
rs111033245
|
|
NM_000441.2(SLC26A4):c.927dup (p.Ala310fs)
|
rs2535310608
|
|
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter)
|
rs1554357231
|
|
NM_001001331.4(ATP2B2):c.2501G>A (p.Gly834Asp)
|
rs2470175441
|
|
NM_001004051.4(GPRASP2):c.1295G>A (p.Gly432Glu)
|
rs1190810703
|
|
NM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly)
|
rs752019502
|
|
NM_001039141.3(TRIOBP):c.4483G>T (p.Glu1495Ter)
|
rs1924587856
|
|
NM_001039213.4(CEACAM16):c.-8G>A
|
rs1355072516
|
|
NM_001127453.2(GSDME):c.212-1G>A
|
rs1790597003
|
|
NM_001145026.2(PTPRQ):c.2621C>A (p.Ser874Ter)
|
rs948217913
|
|
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg)
|
rs1590053918
|
|
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter)
|
rs1554834161
|
|
NM_001195263.2(PDZD7):c.2353A>C (p.Ser785Arg)
|
rs1852358426
|
|
NM_001292063.2(OTOG):c.2542A>T (p.Ile848Phe)
|
rs1852532958
|
|
NM_001292063.2(OTOG):c.3289G>A (p.Gly1097Ser)
|
rs1215206522
|
|
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)
|
rs753906203
|
|
NM_001292063.2(OTOG):c.6197A>G (p.His2066Arg)
|
rs770170338
|
|
NM_001292063.2(OTOG):c.7480+6T>C
|
rs1854206287
|
|
NM_001304438.2(TMEM132E):c.1228A>G (p.Met410Val)
|
rs1907257569
|
|
NM_001375524.1(TRRAP):c.11291C>T (p.Ala3764Val)
|
rs1212619468
|
|
NM_001375524.1(TRRAP):c.4804A>G (p.Lys1602Glu)
|
rs2484851360
|
|
NM_001375524.1(TRRAP):c.5974A>C (p.Met1992Leu)
|
rs1421693784
|
|
NM_001375524.1(TRRAP):c.8750T>C (p.Met2917Thr)
|
rs2484967867
|
|
NM_001378457.1(DMXL2):c.4475A>G (p.Lys1492Arg)
|
rs2043364797
|
|
NM_001378457.1(DMXL2):c.8527-15_8527-11dup
|
rs2039518483
|
|
NM_001378609.3(OTOGL):c.3626A>G (p.Tyr1209Cys)
|
rs1886838397
|
|
NM_001379180.1(ESRRB):c.*1451C>G
|
rs1485778712
|
|
NM_001384140.1(PCDH15):c.1013dup (p.His339fs)
|
rs2539931430
|
|
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706
|
|
NM_001384140.1(PCDH15):c.1201C>T (p.Gln401Ter)
|
rs2049552830
|
|
NM_001384140.1(PCDH15):c.127_130del (p.Ile43fs)
|
rs2548744790
|
|
NM_001384140.1(PCDH15):c.1299del (p.Ile433fs)
|
rs2539679682
|
|
NM_001384140.1(PCDH15):c.1306-1G>T
|
rs1299990309
|
|
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
|
rs1193650682
|
|
NM_001384140.1(PCDH15):c.1430dup (p.Tyr477Ter)
|
rs2539507686
|
|
NM_001384140.1(PCDH15):c.1431C>A (p.Tyr477Ter)
|
rs2048375787
|
|
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter)
|
rs1168400018
|
|
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter)
|
rs2133801342
|
|
NM_001384140.1(PCDH15):c.1475dup (p.Val493fs)
|
rs1591019480
|
|
NM_001384140.1(PCDH15):c.158-1G>A
|
rs876657418
|
|
NM_001384140.1(PCDH15):c.1591-2A>C
|
rs2539029705
|
|
NM_001384140.1(PCDH15):c.1630dup (p.Ile544fs)
|
rs2539028575
|
|
NM_001384140.1(PCDH15):c.1717_1729del (p.Met573fs)
|
rs2539026716
|
|
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
|
rs2539026741
|
|
NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1738_1739del (p.Ala580fs)
|
rs2539026307
|
|
NM_001384140.1(PCDH15):c.1738del (p.Ala580fs)
|
rs2539026370
|
|
NM_001384140.1(PCDH15):c.1778_1784dup (p.Asn596fs)
|
rs2539025331
|
|
NM_001384140.1(PCDH15):c.1784+1G>T
|
rs761865629
|
|
NM_001384140.1(PCDH15):c.17dup (p.Tyr6Ter)
|
rs2549545673
|
|
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs)
|
rs1057517261
|
|
NM_001384140.1(PCDH15):c.1841del (p.Pro614fs)
|
rs2540455720
|
|
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
|
rs1564497773
|
|
NM_001384140.1(PCDH15):c.1917+1G>A
|
rs772911878
|
|
NM_001384140.1(PCDH15):c.1956del (p.Ile652fs)
|
rs2540011642
|
|
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)
|
rs2136049616
|
|
NM_001384140.1(PCDH15):c.1997+1G>C
|
rs763797356
|
|
NM_001384140.1(PCDH15):c.1998-2A>G
|
rs397517452
|
|
NM_001384140.1(PCDH15):c.2029_2044del (p.Asp677fs)
|
rs765906921
|
|
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer)
|
rs765906921
|
|
NM_001384140.1(PCDH15):c.2092-2A>G
|
rs2539768999
|
|
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
|
rs771169423
|
|
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
|
rs2539767594
|
|
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter)
|
rs2094144044
|
|
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)
|
rs2135322143
|
|
NM_001384140.1(PCDH15):c.2356G>T (p.Glu786Ter)
|
rs2539204706
|
|
NM_001384140.1(PCDH15):c.2388dup (p.His797fs)
|
rs2539203973
|
|
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs)
|
rs757027638
|
|
NM_001384140.1(PCDH15):c.2544del (p.Gly849fs)
|
rs2539169490
|
|
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)
|
rs1589950125
|
|
NM_001384140.1(PCDH15):c.2662C>T (p.Gln888Ter)
|
rs2135282980
|
|
NM_001384140.1(PCDH15):c.268del (p.Val90fs)
|
rs2547872368
|
|
NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)
|
rs2539165971
|
|
NM_001384140.1(PCDH15):c.2782A>T (p.Lys928Ter)
|
rs2538939518
|
|
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter)
|
rs2091805733
|
|
NM_001384140.1(PCDH15):c.2825_2828dup (p.Pro944fs)
|
rs2538938645
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs)
|
rs2134302083
|
|
NM_001384140.1(PCDH15):c.2922C>G (p.Tyr974Ter)
|
rs2088359285
|
|
NM_001384140.1(PCDH15):c.3009+1G>C
|
rs2495134983
|
|
NM_001384140.1(PCDH15):c.3009+1G>T
|
rs2495134983
|
|
NM_001384140.1(PCDH15):c.3010-1G>C
|
rs2134277047
|
|
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
|
rs2495078256
|
|
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)
|
rs1554882652
|
|
NM_001384140.1(PCDH15):c.3122+1G>A
|
rs982893820
|
|
NM_001384140.1(PCDH15):c.3123-1G>C
|
rs1554873550
|
|
NM_001384140.1(PCDH15):c.3179del (p.Ala1060fs)
|
rs2494644051
|
|
NM_001384140.1(PCDH15):c.3300_3319dup (p.Val1107fs)
|
rs2494602199
|
|
NM_001384140.1(PCDH15):c.3373+2T>C
|
rs2494600372
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs)
|
rs746865307
|
|
NM_001384140.1(PCDH15):c.3499A>T (p.Lys1167Ter)
|
rs2493949477
|
|
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264
|
|
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
|
rs2493336379
|
|
NM_001384140.1(PCDH15):c.3612del (p.Thr1206fs)
|
rs2493336259
|
|
NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter)
|
rs1589156388
|
|
NM_001384140.1(PCDH15):c.366del (p.Asn122fs)
|
rs1589072933
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3717+1G>C
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3717+1G>T
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.371_372delinsT (p.Lys124fs)
|
rs2547833210
|
|
NM_001384140.1(PCDH15):c.3751del (p.Ile1251fs)
|
rs2493176302
|
|
NM_001384140.1(PCDH15):c.3781dup (p.Glu1261fs)
|
rs2493175361
|
|
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs)
|
rs1554833249
|
|
NM_001384140.1(PCDH15):c.3946C>T (p.Gln1316Ter)
|
rs2492841988
|
|
NM_001384140.1(PCDH15):c.3981dup (p.Lys1328Ter)
|
rs2492840553
|
|
NM_001384140.1(PCDH15):c.3982dup (p.Phe1329fs)
|
rs2492840455
|
|
NM_001384140.1(PCDH15):c.3984-2A>C
|
rs1554824185
|
|
NM_001384140.1(PCDH15):c.3989del (p.Leu1330fs)
|
rs2492660425
|
|
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
|
rs137853003
|
|
NM_001384140.1(PCDH15):c.4094dup (p.Arg1366fs)
|
rs2492656496
|
|
NM_001384140.1(PCDH15):c.4126del (p.Ala1376fs)
|
rs2492655340
|
|
NM_001384140.1(PCDH15):c.4201C>T (p.Gln1401Ter)
|
rs2077002696
|
|
NM_001384140.1(PCDH15):c.4223_4226dup (p.Cys1409Ter)
|
rs2492555524
|
|
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter)
|
rs1057516472
|
|
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs)
|
rs1554822897
|
|
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)
|
rs2134714165
|
|
NM_001384140.1(PCDH15):c.42del (p.Ile15fs)
|
rs2549545421
|
|
NM_001384140.1(PCDH15):c.4349_4352dup (p.Gly1452fs)
|
rs2132576827
|
|
NM_001384140.1(PCDH15):c.4367+2251G>A
|
rs868176515
|
|
NM_001384140.1(PCDH15):c.4367+2T>C
|
rs1554822703
|
|
NM_001384140.1(PCDH15):c.4367+2dup
|
rs2492546306
|
|
NM_001384140.1(PCDH15):c.457dup (p.Tyr153fs)
|
rs2547832439
|
|
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter)
|
rs1943288780
|
|
NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer)
|
rs2135421905
|
|
NM_001384140.1(PCDH15):c.715C>T (p.Gln239Ter)
|
rs2541283849
|
|
NM_001384140.1(PCDH15):c.810dup (p.Val271fs)
|
rs2541280518
|
|
NM_001384140.1(PCDH15):c.876+2T>C
|
rs2541277989
|
|
NM_001384140.1(PCDH15):c.91+1G>A
|
rs1565887701
|
|
NM_001384140.1(PCDH15):c.915dup (p.Ala306fs)
|
rs1591348421
|
|
NM_001384474.1(LOXHD1):c.1843C>T (p.Arg615Trp)
|
rs112463030
|
|
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys)
|
rs1568060200
|
|
NM_001854.4(COL11A1):c.2897G>T (p.Gly966Val)
|
rs1180994816
|
|
NM_002160.4(TNC):c.2795G>C (p.Gly932Ala)
|
rs766474182
|
|
NM_002160.4(TNC):c.4079G>A (p.Trp1360Ter)
|
rs2540047490
|
|
NM_002160.4(TNC):c.4490G>C (p.Gly1497Ala)
|
rs2539964485
|
|
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr)
|
rs762745890
|
|
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)
|
rs80338826
|
|
NM_002700.3(POU4F3):c.604G>A (p.Gly202Arg)
|
rs1760429516
|
|
NM_004004.6(GJB2):c.-16C>T
|
rs759745271
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
|
NM_004086.3(COCH):c.329A>G (p.Gln110Arg)
|
rs1281507766
|
|
NM_004526.4(MCM2):c.277G>A (p.Glu93Lys)
|
rs199660068
|
|
NM_004999.4(MYO6):c.817-1G>A
|
rs1057523846
|
|
NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp)
|
rs760355948
|
|
NM_005219.5(DIAPH1):c.154T>C (p.Phe52Leu)
|
rs2099897674
|
|
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys)
|
rs1554201531
|
|
NM_005422.4(TECTA):c.1316T>C (p.Phe439Ser)
|
rs1484775139
|
|
NM_005422.4(TECTA):c.1472G>T (p.Arg491Leu)
|
rs760011660
|
|
NM_005422.4(TECTA):c.2848G>A (p.Glu950Lys)
|
rs1374232396
|
|
NM_005422.4(TECTA):c.761T>C (p.Ile254Thr)
|
rs1946467660
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_005909.5(MAP1B):c.2995C>T (p.Arg999Ter)
|
rs2478574299
|
|
NM_005909.5(MAP1B):c.5563G>C (p.Gly1855Arg)
|
rs2478583495
|
|
NM_005909.5(MAP1B):c.996G>C (p.Glu332Asp)
|
rs2478567029
|
|
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)
|
rs104894478
|
|
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu)
|
rs201282601
|
|
NM_006016.6(CD164):c.574C>T (p.Arg192Ter)
|
rs876661402
|
|
NM_015404.4(WHRN):c.1018G>A (p.Asp340Asn)
|
rs937343366
|
|
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)
|
rs150586098
|
|
NM_016239.4(MYO15A):c.4235T>A (p.Phe1412Tyr)
|
rs1597779977
|
|
NM_016239.4(MYO15A):c.823G>A (p.Gly275Ser)
|
rs183969516
|
|
NM_018006.5(TRMU):c.1019-1G>A
|
rs773484808
|
|
NM_018006.5(TRMU):c.1019-2_1023del
|
rs2518215957
|
|
NM_018006.5(TRMU):c.1028_1029del (p.Val343fs)
|
rs2147116755
|
|
NM_018006.5(TRMU):c.1041_1044dup (p.Asp349fs)
|
rs755535065
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.1085_1101+7del
|
rs2518216660
|
|
NM_018006.5(TRMU):c.1101+1G>A
|
rs771177317
|
|
NM_018006.5(TRMU):c.1102-22_1130del
|
rs2518223057
|
|
NM_018006.5(TRMU):c.1103_1109del
|
rs2518223366
|
|
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu)
|
rs774047684
|
|
NM_018006.5(TRMU):c.177_178del (p.Arg59fs)
|
rs2518131963
|
|
NM_018006.5(TRMU):c.229T>C (p.Tyr77His)
|
rs118203990
|
|
NM_018006.5(TRMU):c.231T>A (p.Tyr77Ter)
|
rs914793719
|
|
NM_018006.5(TRMU):c.248+1G>T
|
rs2518132615
|
|
NM_018006.5(TRMU):c.249-2A>C
|
rs768299416
|
|
NM_018006.5(TRMU):c.260_263del (p.Asn87fs)
|
rs749895492
|
|
NM_018006.5(TRMU):c.31_32del (p.Leu11fs)
|
rs2518120850
|
|
NM_018006.5(TRMU):c.333del (p.His112fs)
|
rs756600903
|
|
NM_018006.5(TRMU):c.333dup (p.His112fs)
|
rs756600903
|
|
NM_018006.5(TRMU):c.355+1G>C
|
rs1407825579
|
|
NM_018006.5(TRMU):c.355+1G>T
|
rs1407825579
|
|
NM_018006.5(TRMU):c.356-2_356-1del
|
rs2147053913
|
|
NM_018006.5(TRMU):c.356-2del
|
rs1351144189
|
|
NM_018006.5(TRMU):c.380dup (p.His127fs)
|
rs2518162094
|
|
NM_018006.5(TRMU):c.397del (p.Leu133fs)
|
rs2518162180
|
|
NM_018006.5(TRMU):c.416_417del (p.Val138_Phe139insTer)
|
rs2078261207
|
|
NM_018006.5(TRMU):c.428_459dup (p.Arg154fs)
|
rs2147054656
|
|
NM_018006.5(TRMU):c.458del (p.Asn153fs)
|
rs2518162686
|
|
NM_018006.5(TRMU):c.478+1G>A
|
rs1569072157
|
|
NM_018006.5(TRMU):c.479-1G>A
|
rs2078376803
|
|
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del)
|
rs762710723
|
|
NM_018006.5(TRMU):c.544C>T (p.Gln182Ter)
|
rs1436976326
|
|
NM_018006.5(TRMU):c.575dup (p.Leu195fs)
|
rs2518179155
|
|
NM_018006.5(TRMU):c.581del (p.Gly194fs)
|
rs763926467
|
|
NM_018006.5(TRMU):c.581dup (p.Leu195fs)
|
rs763926467
|
|
NM_018006.5(TRMU):c.591del (p.Glu198fs)
|
rs751250875
|
|
NM_018006.5(TRMU):c.5_27dup (p.Ala10fs)
|
rs774631375
|
|
NM_018006.5(TRMU):c.645_649del (p.Lys216fs)
|
rs2518179911
|
|
NM_018006.5(TRMU):c.652-2A>G
|
rs1336164502
|
|
NM_018006.5(TRMU):c.660dup (p.Met221fs)
|
rs2518190654
|
|
NM_018006.5(TRMU):c.679_686del (p.Lys226_Arg227insTer)
|
rs1484132200
|
|
NM_018006.5(TRMU):c.703C>T (p.Gln235Ter)
|
rs1800386420
|
|
NM_018006.5(TRMU):c.706-2A>G
|
rs1215799527
|
|
NM_018006.5(TRMU):c.737_738insT (p.Ile247fs)
|
rs2518191972
|
|
NM_018006.5(TRMU):c.772+2T>G
|
rs2147096093
|
|
NM_018006.5(TRMU):c.777G>A (p.Trp259Ter)
|
rs2518201351
|
|
NM_018006.5(TRMU):c.824_825del (p.Glu275fs)
|
rs1191230933
|
|
NM_018006.5(TRMU):c.824_825dup (p.Pro276fs)
|
rs1191230933
|
|
NM_018006.5(TRMU):c.830G>A (p.Trp277Ter)
|
rs2078511375
|
|
NM_018006.5(TRMU):c.867_868del (p.Phe290fs)
|
rs2518202100
|
|
NM_018006.5(TRMU):c.872_873del (p.Val291fs)
|
rs2518202141
|
|
NM_018006.5(TRMU):c.873+2T>G
|
rs2518202192
|
|
NM_018006.5(TRMU):c.874-1G>C
|
rs2518210728
|
|
NM_018006.5(TRMU):c.874-2A>G
|
rs2518210719
|
|
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter)
|
rs769668643
|
|
NM_018006.5(TRMU):c.880del (p.Arg294fs)
|
rs1490906786
|
|
NM_018006.5(TRMU):c.882del (p.Thr295fs)
|
rs1225948299
|
|
NM_018006.5(TRMU):c.903C>A (p.Tyr301Ter)
|
rs779868712
|
|
NM_018006.5(TRMU):c.925del (p.Arg309fs)
|
rs2518211256
|
|
NM_018006.5(TRMU):c.954dup (p.Ala319fs)
|
rs863224242
|
|
NM_018006.5(TRMU):c.994del (p.Arg332fs)
|
rs2518212002
|
|
NM_022124.6(CDH23):c.371A>G (p.Asp124Gly)
|
rs751192273
|
|
NM_022124.6(CDH23):c.4747G>T (p.Gly1583Cys)
|
rs775013186
|
|
NM_024334.3(TMEM43):c.605A>T (p.Asn202Ile)
|
rs958959766
|
|
NM_031475.3(ESPN):c.2539AAG[1] (p.Lys848del)
|
rs1569771486
|
|
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)
|
rs730880357
|
|
NM_033056.4(PCDH15):c.5339C>A (p.Pro1780His)
|
rs1564533607
|
|
NM_033109.5(PNPT1):c.1176+439G>A
|
rs773685426
|
|
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del)
|
rs1572796197
|
|
NM_033109.5(PNPT1):c.2067C>T (p.Ile689=)
|
rs2529476670
|
|
NM_033109.5(PNPT1):c.298-2A>T
|
rs1478363532
|
|
NM_033109.5(PNPT1):c.393T>G (p.Ser131Arg)
|
rs556778073
|
|
NM_033109.5(PNPT1):c.918del (p.Val307fs)
|
rs1696930196
|
|
NM_133261.3(GIPC3):c.592G>T (p.Asp198Tyr)
|
rs1320335674
|
|
NM_144672.4(OTOA):c.1912C>T (p.Gln638Ter)
|
rs1898923522
|
|
NM_144672.4(OTOA):c.2352del (p.Thr785fs)
|
rs1212308982
|
|
NM_144991.3(TSPEAR):c.304-5450G>T
|
rs143105755
|
|
NM_153676.4(USH1C):c.1000C>T (p.Gln334Ter)
|
rs935876011
|
|
NM_153676.4(USH1C):c.1018C>T (p.Gln340Ter)
|
rs776644722
|
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944
|
|
NM_153676.4(USH1C):c.1039del (p.Gln347fs)
|
rs2497144443
|
|
NM_153676.4(USH1C):c.104+5G>C
|
rs2133927984
|
|
NM_153676.4(USH1C):c.1086-1G>T
|
rs2497139905
|
|
NM_153676.4(USH1C):c.1094_1101dup (p.Glu368fs)
|
rs2497139677
|
|
NM_153676.4(USH1C):c.1096del (p.Glu366fs)
|
rs1565047971
|
|
NM_153676.4(USH1C):c.110_113del (p.Met37fs)
|
rs2497228517
|
|
NM_153676.4(USH1C):c.1121G>A (p.Trp374Ter)
|
rs2497139451
|
|
NM_153676.4(USH1C):c.1134G>A (p.Trp378Ter)
|
rs1591999307
|
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
|
NM_153676.4(USH1C):c.1146dup (p.Gln383fs)
|
rs1554960388
|
|
NM_153676.4(USH1C):c.1910C>G (p.Thr637Ser)
|
rs754365594
|
|
NM_153676.4(USH1C):c.2185-1G>A
|
rs746871920
|
|
NM_153676.4(USH1C):c.2381-7_2381del
|
rs2496984080
|
|
NM_153676.4(USH1C):c.238del (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.2401G>T (p.Glu801Ter)
|
rs371257969
|
|
NM_153676.4(USH1C):c.2420del (p.Gly807fs)
|
rs748171099
|
|
NM_153676.4(USH1C):c.2490+1del
|
rs1366154374
|
|
NM_153676.4(USH1C):c.2520C>A (p.Cys840Ter)
|
rs761957144
|
|
NM_153676.4(USH1C):c.2535T>A (p.Tyr845Ter)
|
rs1488373963
|
|
NM_153676.4(USH1C):c.2546+1G>A
|
rs1554953350
|
|
NM_153676.4(USH1C):c.286G>T (p.Glu96Ter)
|
rs769420899
|
|
NM_153676.4(USH1C):c.348_373del (p.His116fs)
|
rs2133917820
|
|
NM_153676.4(USH1C):c.356_365del (p.Lys119fs)
|
rs2497222958
|
|
NM_153676.4(USH1C):c.36+1G>A
|
rs1403777293
|
|
NM_153676.4(USH1C):c.37-1G>C
|
rs2497242255
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+1G>T
|
rs138138689
|
|
NM_153676.4(USH1C):c.497_498delAC (p.Ile167fs)
|
rs1850715505
|
|
NM_153676.4(USH1C):c.541del (p.Thr181fs)
|
rs2497187090
|
|
NM_153676.4(USH1C):c.579+1G>A
|
rs1283092935
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_153676.4(USH1C):c.674+1G>A
|
rs775496999
|
|
NM_153676.4(USH1C):c.674+2T>G
|
rs1298596518
|
|
NM_153676.4(USH1C):c.70del (p.Asp24fs)
|
rs2497241574
|
|
NM_153676.4(USH1C):c.711del (p.Phe237fs)
|
rs1427085382
|
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412
|
|
NM_153676.4(USH1C):c.769C>T (p.Gln257Ter)
|
rs2497163229
|
|
NM_153676.4(USH1C):c.877-2A>G
|
rs2497156629
|
|
NM_153676.4(USH1C):c.917_938delinsCTTGCC (p.Glu306fs)
|
rs2497155607
|
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NM_153700.2(STRC):c.274C>T (p.Arg92Trp)
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rs1484849703
|
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NM_174916.3(UBR1):c.1539+2T>G
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rs2033511910
|
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NM_174916.3(UBR1):c.2075T>C (p.Ile692Thr)
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rs1235759223
|
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NM_174916.3(UBR1):c.2261G>A (p.Arg754His)
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rs1567131023
|
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NM_178335.3(CCDC50):c.199C>G (p.Leu67Val)
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rs1459433782
|
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NM_194248.3(OTOF):c.3013C>G (p.Pro1005Ala)
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rs1665210196
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