NM_000260.4(MYO7A):c.783T>C (p.Gly261=)
|
rs762667
|
0.50077
|
NM_022124.6(CDH23):c.7055-16A>G
|
rs4747193
|
0.34615
|
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=)
|
rs7921598
|
0.23801
|
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)
|
rs10825269
|
0.22253
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
NM_022124.6(CDH23):c.1449+130T>C
|
rs2305209
|
0.14152
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)
|
rs111033465
|
0.03680
|
NM_022124.6(CDH23):c.429+18T>C
|
rs141451003
|
0.02288
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839
|
0.01879
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01274
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01149
|
NM_022124.6(CDH23):c.4846-19G>C
|
rs80261750
|
0.00835
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
0.00631
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00505
|
NM_001384140.1(PCDH15):c.3983+12T>C
|
rs149867749
|
0.00471
|
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)
|
rs143240262
|
0.00366
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
NM_001384140.1(PCDH15):c.4672-1640A>G
|
rs145178582
|
0.00232
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_000260.4(MYO7A):c.2283-20C>T
|
rs371838579
|
0.00068
|
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
|
rs148718874
|
0.00066
|
NM_000260.4(MYO7A):c.3750+5G>A
|
rs111033391
|
0.00065
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00063
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)
|
rs142512524
|
0.00051
|
NM_022124.6(CDH23):c.832+8A>G
|
rs56129333
|
0.00048
|
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)
|
rs372509310
|
0.00043
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00042
|
NM_001384140.1(PCDH15):c.4368-1519A>G
|
rs532994771
|
0.00040
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00038
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
|
rs202245413
|
0.00036
|
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn)
|
rs150509146
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00034
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00033
|
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)
|
rs200697103
|
0.00032
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_173477.5(USH1G):c.310A>G (p.Met104Val)
|
rs149529031
|
0.00031
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00027
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00026
|
NM_001384140.1(PCDH15):c.3502-6G>A
|
rs749897896
|
0.00026
|
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)
|
rs201877610
|
0.00026
|
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met)
|
rs565657378
|
0.00026
|
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)
|
rs200177873
|
0.00025
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu)
|
rs145232643
|
0.00024
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala)
|
rs150069992
|
0.00024
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00023
|
NM_022124.6(CDH23):c.1981G>A (p.Val661Met)
|
rs369157174
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493
|
0.00019
|
NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala)
|
rs199834829
|
0.00019
|
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys)
|
rs755817193
|
0.00019
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029
|
0.00019
|
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)
|
rs373276722
|
0.00016
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00014
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)
|
rs199754104
|
0.00014
|
NM_173477.5(USH1G):c.-2C>T
|
rs758940726
|
0.00014
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val)
|
rs199537178
|
0.00013
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00013
|
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)
|
rs564555435
|
0.00013
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494
|
0.00013
|
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg)
|
rs200304238
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met)
|
rs370912192
|
0.00011
|
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)
|
rs142652588
|
0.00011
|
NM_000260.4(MYO7A):c.1343+6G>A
|
rs201886336
|
0.00010
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)
|
rs368705036
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00009
|
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys)
|
rs782276809
|
0.00008
|
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His)
|
rs373080197
|
0.00008
|
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=)
|
rs372311564
|
0.00008
|
NM_001384140.1(PCDH15):c.2000C>T (p.Thr667Met)
|
rs143090687
|
0.00008
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00008
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
NM_022124.6(CDH23):c.415G>A (p.Val139Ile)
|
rs771868822
|
0.00008
|
NM_022124.6(CDH23):c.8057T>C (p.Val2686Ala)
|
rs371567666
|
0.00008
|
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met)
|
rs369776863
|
0.00008
|
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)
|
rs375253473
|
0.00007
|
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys)
|
rs376169396
|
0.00007
|
NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=)
|
rs372336857
|
0.00007
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00007
|
NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met)
|
rs773283153
|
0.00007
|
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
|
rs370549448
|
0.00007
|
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)
|
rs374964318
|
0.00007
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp)
|
rs397517333
|
0.00007
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)
|
rs368848049
|
0.00007
|
NM_022124.6(CDH23):c.9381-123C>A
|
rs775172553
|
0.00007
|
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser)
|
rs377510653
|
0.00007
|
NM_000260.4(MYO7A):c.*208C>G
|
rs886048684
|
0.00006
|
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn)
|
rs544639673
|
0.00006
|
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)
|
rs781537330
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys)
|
rs780609120
|
0.00006
|
NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His)
|
rs761867896
|
0.00006
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=)
|
rs368308772
|
0.00006
|
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys)
|
rs200798008
|
0.00006
|
NM_022124.6(CDH23):c.1699G>A (p.Val567Met)
|
rs377148854
|
0.00006
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp)
|
rs781339262
|
0.00006
|
NM_022124.6(CDH23):c.6050-15G>A
|
rs373838930
|
0.00006
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)
|
rs201579860
|
0.00006
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
NM_033056.4(PCDH15):c.5380A>C (p.Thr1794Pro)
|
rs748917362
|
0.00006
|
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)
|
rs371626423
|
0.00006
|
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)
|
rs953533173
|
0.00005
|
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr)
|
rs377326213
|
0.00005
|
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp)
|
rs554073390
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met)
|
rs367937228
|
0.00005
|
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln)
|
rs562377533
|
0.00005
|
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His)
|
rs369442293
|
0.00005
|
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg)
|
rs41281306
|
0.00005
|
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)
|
rs397517317
|
0.00005
|
NM_022124.6(CDH23):c.2804G>A (p.Arg935His)
|
rs748194042
|
0.00005
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00005
|
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
|
rs780987516
|
0.00005
|
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)
|
rs376614796
|
0.00005
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00005
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00005
|
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)
|
rs771858198
|
0.00005
|
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp)
|
rs745335831
|
0.00005
|
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg)
|
rs745583797
|
0.00005
|
NM_153676.4(USH1C):c.2112A>G (p.Pro704=)
|
rs199532754
|
0.00005
|
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
|
rs121965085
|
0.00004
|
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu)
|
rs782757893
|
0.00004
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His)
|
rs199607235
|
0.00004
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu)
|
rs530520654
|
0.00004
|
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)
|
rs111033215
|
0.00004
|
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln)
|
rs765083332
|
0.00004
|
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His)
|
rs746610406
|
0.00004
|
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)
|
rs397517329
|
0.00004
|
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His)
|
rs746971522
|
0.00004
|
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys)
|
rs755800639
|
0.00004
|
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met)
|
rs749501038
|
0.00004
|
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln)
|
rs763303827
|
0.00004
|
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer)
|
rs751539473
|
0.00004
|
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly)
|
rs558224212
|
0.00004
|
NM_153676.4(USH1C):c.1793G>A (p.Arg598His)
|
rs767863235
|
0.00004
|
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln)
|
rs372497947
|
0.00004
|
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp)
|
rs200428926
|
0.00004
|
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr)
|
rs372227474
|
0.00004
|
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg)
|
rs572300575
|
0.00003
|
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln)
|
rs1052032
|
0.00003
|
NM_000260.4(MYO7A):c.2717G>A (p.Arg906His)
|
rs868977760
|
0.00003
|
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)
|
rs727504710
|
0.00003
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter)
|
rs750647872
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=)
|
rs376743356
|
0.00003
|
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu)
|
rs757896867
|
0.00003
|
NM_000260.4(MYO7A):c.6439-2A>G
|
rs397516330
|
0.00003
|
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp)
|
rs780168150
|
0.00003
|
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)
|
rs397515411
|
0.00003
|
NM_006383.4(CIB2):c.300_309del (p.Glu100fs)
|
rs765741202
|
0.00003
|
NM_022124.6(CDH23):c.227G>A (p.Arg76His)
|
rs373802615
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)
|
rs748462315
|
0.00003
|
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)
|
rs202204597
|
0.00003
|
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr)
|
rs185819621
|
0.00003
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00003
|
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile)
|
rs763947401
|
0.00003
|
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)
|
rs370922401
|
0.00003
|
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln)
|
rs547034667
|
0.00003
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr)
|
rs780514498
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys)
|
rs778711089
|
0.00003
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
NM_033056.4(PCDH15):c.4599_4600dup (p.Ser1534fs)
|
rs1436725375
|
0.00003
|
NM_033056.4(PCDH15):c.4699_4715dup (p.Leu1573fs)
|
rs763882874
|
0.00003
|
NM_173477.5(USH1G):c.1057G>A (p.Asp353Asn)
|
rs775952116
|
0.00003
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587
|
0.00002
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292
|
0.00002
|
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)
|
rs781989117
|
0.00002
|
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro)
|
rs751034678
|
0.00002
|
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp)
|
rs376796087
|
0.00002
|
NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter)
|
rs1334199217
|
0.00002
|
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)
|
rs111033233
|
0.00002
|
NM_000260.4(MYO7A):c.3718C>T (p.Arg1240Trp)
|
rs371374104
|
0.00002
|
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)
|
rs782787126
|
0.00002
|
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr)
|
rs375066152
|
0.00002
|
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys)
|
rs111534474
|
0.00002
|
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met)
|
rs746667217
|
0.00002
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080
|
0.00002
|
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)
|
rs747656448
|
0.00002
|
NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His)
|
rs548728030
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_006383.4(CIB2):c.352A>G (p.Asn118Asp)
|
rs146274871
|
0.00002
|
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)
|
rs1295355040
|
0.00002
|
NM_022124.6(CDH23):c.446C>T (p.Thr149Met)
|
rs370947344
|
0.00002
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
0.00002
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00002
|
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)
|
rs750880909
|
0.00002
|
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met)
|
rs775436759
|
0.00002
|
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu)
|
rs746961144
|
0.00002
|
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe)
|
rs763721044
|
0.00002
|
NM_022124.6(CDH23):c.9199-4G>A
|
rs369900526
|
0.00002
|
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
|
rs763119683
|
0.00002
|
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val)
|
rs760992741
|
0.00002
|
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr)
|
rs769984840
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn)
|
rs199537187
|
0.00002
|
NM_173477.5(USH1G):c.859A>G (p.Thr287Ala)
|
rs199782834
|
0.00002
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521
|
0.00001
|
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)
|
rs1555067667
|
0.00001
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
NM_000260.4(MYO7A):c.1563del (p.Asp521fs)
|
rs1064794012
|
0.00001
|
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg)
|
rs968552859
|
0.00001
|
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)
|
rs111033180
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.2187+2_2187+8del
|
rs1416744060
|
0.00001
|
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp)
|
rs782174733
|
0.00001
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914
|
0.00001
|
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro)
|
rs1241891051
|
0.00001
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097
|
0.00001
|
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)
|
rs781988557
|
0.00001
|
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)
|
rs782281371
|
0.00001
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
NM_000260.4(MYO7A):c.3289C>T (p.Gln1097Ter)
|
rs548381313
|
0.00001
|
NM_000260.4(MYO7A):c.3504-1G>C
|
rs1555090171
|
0.00001
|
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter)
|
rs782694195
|
0.00001
|
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)
|
rs1555090442
|
0.00001
|
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala)
|
rs758332732
|
0.00001
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
0.00001
|
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser)
|
rs769771981
|
0.00001
|
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)
|
rs766641715
|
0.00001
|
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)
|
rs111033174
|
0.00001
|
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter)
|
rs111033182
|
0.00001
|
NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu)
|
rs746296177
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)
|
rs878864531
|
0.00001
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg)
|
rs373886432
|
0.00001
|
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp)
|
rs1010166278
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000260.4(MYO7A):c.604del (p.Ala202fs)
|
rs781815916
|
0.00001
|
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
|
rs111033198
|
0.00001
|
NM_000260.4(MYO7A):c.6230G>A (p.Trp2077Ter)
|
rs776930594
|
0.00001
|
NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr)
|
rs1555062954
|
0.00001
|
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)
|
rs111033283
|
0.00001
|
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)
|
rs1383147250
|
0.00001
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
0.00001
|
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)
|
rs111033285
|
0.00001
|
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)
|
rs267606932
|
0.00001
|
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter)
|
rs1264383341
|
0.00001
|
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter)
|
rs1057517443
|
0.00001
|
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)
|
rs138983888
|
0.00001
|
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)
|
rs727504301
|
0.00001
|
NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn)
|
rs1189952332
|
0.00001
|
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
|
rs2547872482
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.3232+1G>A
|
rs1476947005
|
0.00001
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
0.00001
|
NM_001384140.1(PCDH15):c.3806+2T>C
|
rs756692340
|
0.00001
|
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys)
|
rs765215862
|
0.00001
|
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter)
|
rs770416107
|
0.00001
|
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter)
|
rs1554814611
|
0.00001
|
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)
|
rs1384677442
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp)
|
rs770510708
|
0.00001
|
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu)
|
rs767345324
|
0.00001
|
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln)
|
rs376414013
|
0.00001
|
NM_022124.6(CDH23):c.1874G>A (p.Arg625His)
|
rs200907423
|
0.00001
|
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)
|
rs764332602
|
0.00001
|
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)
|
rs755812129
|
0.00001
|
NM_022124.6(CDH23):c.2289+1G>A
|
rs769433759
|
0.00001
|
NM_022124.6(CDH23):c.2398-1G>T
|
rs751788879
|
0.00001
|
NM_022124.6(CDH23):c.2591G>T (p.Gly864Val)
|
rs1317670560
|
0.00001
|
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)
|
rs560251790
|
0.00001
|
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe)
|
rs2132740122
|
0.00001
|
NM_022124.6(CDH23):c.2870G>A (p.Arg957His)
|
rs748047907
|
0.00001
|
NM_022124.6(CDH23):c.2954-2A>G
|
rs1865810132
|
0.00001
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala)
|
rs759990271
|
0.00001
|
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
|
rs764025875
|
0.00001
|
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val)
|
rs1299758893
|
0.00001
|
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)
|
rs555432123
|
0.00001
|
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)
|
rs756459547
|
0.00001
|
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
|
rs762226905
|
0.00001
|
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr)
|
rs1198525214
|
0.00001
|
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)
|
rs1278603247
|
0.00001
|
NM_022124.6(CDH23):c.6712+1G>A
|
rs1554874900
|
0.00001
|
NM_022124.6(CDH23):c.6829+3A>G
|
rs780258798
|
0.00001
|
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly)
|
rs758727384
|
0.00001
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354
|
0.00001
|
NM_022124.6(CDH23):c.7274_7275del (p.Thr2425fs)
|
rs1841497902
|
0.00001
|
NM_022124.6(CDH23):c.8383C>T (p.Arg2795Ter)
|
rs768834772
|
0.00001
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00001
|
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr)
|
rs753997469
|
0.00001
|
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs)
|
rs767621707
|
0.00001
|
NM_033056.4(PCDH15):c.4533_4554dup (p.Glu1519delinsLysIleHisIleSerIleTer)
|
rs746017823
|
0.00001
|
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
|
rs747516133
|
0.00001
|
NM_153676.4(USH1C):c.104+1G>A
|
rs1287021691
|
0.00001
|
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser)
|
rs775363189
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153676.4(USH1C):c.2270G>A (p.Arg757His)
|
rs753703742
|
0.00001
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085
|
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.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
NM_173477.5(USH1G):c.164+5G>A
|
rs1337840598
|
0.00001
|
NC_000010.11:g.71682535dup
|
rs753886326
|
|
NC_000010.11:g.71806223_71806224delinsTT
|
rs876657422
|
|
NC_000011.10:g.77198597_77198604delinsCA
|
rs111033259
|
|
NM_000260.4(MYO7A):c.1005_1012delinsTGCCAACAGCCCCTTGCTGCCTCCCCTGATGCTGTGCCCC (p.Arg336fs)
|
|
|
NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter)
|
rs782639389
|
|
NM_000260.4(MYO7A):c.1080+1G>C
|
|
|
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys)
|
rs868979094
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
NM_000260.4(MYO7A):c.1200+1G>A
|
rs397516283
|
|
NM_000260.4(MYO7A):c.132+6T>C
|
rs781852295
|
|
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln)
|
rs1269622956
|
|
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val)
|
rs1555069238
|
|
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)
|
rs782077721
|
|
NM_000260.4(MYO7A):c.1690+3A>G
|
rs1555070313
|
|
NM_000260.4(MYO7A):c.178dup (p.His60fs)
|
|
|
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT
|
rs1954226902
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr)
|
rs1954474030
|
|
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp)
|
rs878853236
|
|
NM_000260.4(MYO7A):c.2094+2T>C
|
|
|
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys)
|
rs2135473615
|
|
NM_000260.4(MYO7A):c.2569C>T (p.Gln857Ter)
|
rs1555082994
|
|
NM_000260.4(MYO7A):c.285+1G>T
|
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=)
|
rs111033233
|
|
NM_000260.4(MYO7A):c.2926_2938del (p.Glu976fs)
|
|
|
NM_000260.4(MYO7A):c.3109-2A>G
|
rs781977497
|
|
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)
|
rs116892396
|
|
NM_000260.4(MYO7A):c.3286-2A>C
|
|
|
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter)
|
rs782468194
|
|
NM_000260.4(MYO7A):c.338_348dup (p.Glu117fs)
|
rs1064793208
|
|
NM_000260.4(MYO7A):c.3503+12_3503+33del
|
rs111033223
|
|
NM_000260.4(MYO7A):c.3503+2T>C
|
rs2497276257
|
|
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)
|
rs1253943370
|
|
NM_000260.4(MYO7A):c.3599del (p.Gly1200fs)
|
|
|
NM_000260.4(MYO7A):c.3656del (p.Gly1219fs)
|
|
|
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter)
|
rs1057517857
|
|
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs)
|
rs397516304
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
NM_000260.4(MYO7A):c.3829del (p.Ala1277fs)
|
rs2135562294
|
|
NM_000260.4(MYO7A):c.3880_3881del (p.Lys1294fs)
|
|
|
NM_000260.4(MYO7A):c.3924+1G>C
|
rs1226046110
|
|
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val)
|
rs2135575353
|
|
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)
|
rs373169422
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del)
|
rs1437625274
|
|
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)
|
rs1555096223
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter)
|
rs1952434877
|
|
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)
|
rs1555100273
|
|
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn)
|
rs766461538
|
|
NM_000260.4(MYO7A):c.5127del (p.Lys1710fs)
|
|
|
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu)
|
rs1478464275
|
|
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs)
|
rs111033276
|
|
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)
|
rs111033477
|
|
NM_000260.4(MYO7A):c.5248del (p.Glu1750fs)
|
|
|
NM_000260.4(MYO7A):c.5260C>T (p.Gln1754Ter)
|
rs2497664685
|
|
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter)
|
rs778009227
|
|
NM_000260.4(MYO7A):c.5785C>T (p.Gln1929Ter)
|
rs1957512851
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
NM_000260.4(MYO7A):c.5856+1G>A
|
|
|
NM_000260.4(MYO7A):c.5915G>A (p.Trp1972Ter)
|
rs1266443165
|
|
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)
|
rs397516326
|
|
NM_000260.4(MYO7A):c.6079_6081del (p.His2027del)
|
rs1957839812
|
|
NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter)
|
rs1957844295
|
|
NM_000260.4(MYO7A):c.6228_6232del (p.Asp2076fs)
|
rs2135785861
|
|
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp)
|
rs759614902
|
|
NM_000260.4(MYO7A):c.721C>G (p.Arg241Gly)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.75_76del (p.Ala26fs)
|
|
|
NM_000260.4(MYO7A):c.846dup (p.Met283fs)
|
rs1952586315
|
|
NM_000260.4(MYO7A):c.947G>A (p.Trp316Ter)
|
|
|
NM_000260.4(MYO7A):c.979_985dup (p.Gly329fs)
|
|
|
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706
|
|
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)
|
rs759187261
|
|
NM_001384140.1(PCDH15):c.1306-2A>G
|
rs2539511295
|
|
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)
|
rs2133817680
|
|
NM_001384140.1(PCDH15):c.1699A>G (p.Ile567Val)
|
|
|
NM_001384140.1(PCDH15):c.16_20del (p.Tyr6fs)
|
|
|
NM_001384140.1(PCDH15):c.1737C>A (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs)
|
rs2136049616
|
|
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val)
|
rs1040514625
|
|
NM_001384140.1(PCDH15):c.2029_2044del (p.Asp677fs)
|
rs765906921
|
|
NM_001384140.1(PCDH15):c.2042C>G (p.Thr681Ser)
|
|
|
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
|
rs771169423
|
|
NM_001384140.1(PCDH15):c.2220+2T>C
|
|
|
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu)
|
rs375282189
|
|
NM_001384140.1(PCDH15):c.2347del (p.Asp783fs)
|
rs2135322143
|
|
NM_001384140.1(PCDH15):c.2414dup (p.Leu805fs)
|
|
|
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter)
|
rs201328768
|
|
NM_001384140.1(PCDH15):c.2818_2821dup (p.Lys941fs)
|
|
|
NM_001384140.1(PCDH15):c.2868+5G>A
|
rs757993503
|
|
NM_001384140.1(PCDH15):c.299del (p.Gly100fs)
|
rs1554940316
|
|
NM_001384140.1(PCDH15):c.3037G>T (p.Glu1013Ter)
|
rs2495078256
|
|
NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg)
|
rs2086006894
|
|
NM_001384140.1(PCDH15):c.3270T>G (p.Tyr1090Ter)
|
rs1405076980
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)
|
rs1057517264
|
|
NM_001384140.1(PCDH15):c.3688A>T (p.Lys1230Ter)
|
rs2079479378
|
|
NM_001384140.1(PCDH15):c.3717+1G>A
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.4039G>A (p.Glu1347Lys)
|
rs1358647851
|
|
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp)
|
rs752371584
|
|
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)
|
rs2134714165
|
|
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
NM_001384140.1(PCDH15):c.4367+1G>A
|
rs1057516613
|
|
NM_001384140.1(PCDH15):c.4671+1420del
|
rs778088114
|
|
NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup
|
rs373720521
|
|
NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs)
|
rs570460962
|
|
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer)
|
rs770322907
|
|
NM_001384140.1(PCDH15):c.561dup (p.Glu188fs)
|
rs2134175729
|
|
NM_001384140.1(PCDH15):c.706-3_717del
|
rs769348776
|
|
NM_001384140.1(PCDH15):c.880G>T (p.Glu294Ter)
|
|
|
NM_005709.4(USH1C):c.1211-5_1232delinsCGG
|
|
|
NM_005709.4(USH1C):c.1216C>T (p.Gln406Ter)
|
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_006383.4(CIB2):c.401G>T (p.Arg134Leu)
|
rs199819065
|
|
NM_022124.6(CDH23):c.1087del (p.Val363fs)
|
rs747955135
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
|
rs2493815701
|
|
NM_022124.6(CDH23):c.1270G>A (p.Val424Met)
|
rs2305207
|
|
NM_022124.6(CDH23):c.1395C>A (p.Tyr465Ter)
|
|
|
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile)
|
rs771847607
|
|
NM_022124.6(CDH23):c.145+1G>T
|
rs1850169561
|
|
NM_022124.6(CDH23):c.193del (p.Leu65fs)
|
rs796051861
|
|
NM_022124.6(CDH23):c.2323del (p.His775fs)
|
|
|
NM_022124.6(CDH23):c.2419del (p.Leu807fs)
|
|
|
NM_022124.6(CDH23):c.2476del (p.Leu826fs)
|
rs1865609793
|
|
NM_022124.6(CDH23):c.2587+1G>T
|
|
|
NM_022124.6(CDH23):c.2730C>G (p.Tyr910Ter)
|
|
|
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met)
|
rs183220886
|
|
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2864G>A (p.Arg955His)
|
rs758293939
|
|
NM_022124.6(CDH23):c.289-1G>C
|
|
|
NM_022124.6(CDH23):c.3247_3248del (p.Thr1083fs)
|
|
|
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)
|
rs371962929
|
|
NM_022124.6(CDH23):c.337-2A>G
|
|
|
NM_022124.6(CDH23):c.3619del (p.Val1207fs)
|
|
|
NM_022124.6(CDH23):c.4102_4103delinsTATCTTGAA (p.Thr1368fs)
|
|
|
NM_022124.6(CDH23):c.4105-1G>A
|
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
NM_022124.6(CDH23):c.4594_4597del (p.Gly1532fs)
|
|
|
NM_022124.6(CDH23):c.4617+5G>C
|
rs772189237
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys)
|
rs759876454
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5256dup (p.Glu1753Ter)
|
|
|
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter)
|
rs397517337
|
|
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs)
|
rs2132929769
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022124.6(CDH23):c.5434G>T (p.Glu1812Ter)
|
|
|
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)
|
rs1060499789
|
|
NM_022124.6(CDH23):c.5985C>A (p.Tyr1995Ter)
|
|
|
NM_022124.6(CDH23):c.6254-12_6258del
|
|
|
NM_022124.6(CDH23):c.6254-2A>C
|
|
|
NM_022124.6(CDH23):c.6393del (p.Ile2132fs)
|
rs754876029
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
|
NM_022124.6(CDH23):c.6973A>T (p.Lys2325Ter)
|
|
|
NM_022124.6(CDH23):c.7033C>T (p.Gln2345Ter)
|
|
|
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)
|
rs747544364
|
|
NM_022124.6(CDH23):c.7225del
|
|
|
NM_022124.6(CDH23):c.7557T>G (p.Tyr2519Ter)
|
rs2132977459
|
|
NM_022124.6(CDH23):c.7730_7734del (p.Phe2577fs)
|
|
|
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser)
|
rs373294595
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)
|
rs878853337
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)
|
rs377535432
|
|
NM_022124.6(CDH23):c.8191C>T (p.Gln2731Ter)
|
|
|
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)
|
rs372996083
|
|
NM_022124.6(CDH23):c.8287_8290del (p.Ile2763fs)
|
|
|
NM_022124.6(CDH23):c.8308+1G>A
|
rs757675676
|
|
NM_022124.6(CDH23):c.833-1G>A
|
|
|
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
|
rs1483001216
|
|
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His)
|
rs534575559
|
|
NM_022124.6(CDH23):c.918C>G (p.Tyr306Ter)
|
|
|
NM_022124.6(CDH23):c.9198+2T>A
|
rs1841921374
|
|
NM_022124.6(CDH23):c.9207dup (p.Ile3070fs)
|
|
|
NM_022124.6(CDH23):c.9254del (p.Leu3085fs)
|
rs773926246
|
|
NM_022124.6(CDH23):c.9280_9286del
|
rs2133002929
|
|
NM_022124.6(CDH23):c.9381-2A>G
|
rs1841971198
|
|
NM_022124.6(CDH23):c.9481G>C (p.Asp3161His)
|
|
|
NM_022124.6(CDH23):c.9511-2A>C
|
|
|
NM_022124.6(CDH23):c.9634-1G>A
|
|
|
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)
|
rs1382062973
|
|
NM_033056.4(PCDH15):c.4368-2A>T
|
rs989521806
|
|
NM_033056.4(PCDH15):c.4368-7_4374del
|
|
|
NM_033056.4(PCDH15):c.4403_4407dup (p.Asn1470fs)
|
|
|
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs)
|
rs749884609
|
|
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs)
|
rs749884609
|
|
NM_033056.4(PCDH15):c.4411_4412del (p.Val1472fs)
|
|
|
NM_033056.4(PCDH15):c.4411_4412dup (p.Val1472fs)
|
rs2132512042
|
|
NM_033056.4(PCDH15):c.4467_4497dup (p.Gly1500delinsTyrTer)
|
|
|
NM_033056.4(PCDH15):c.4523_4526dup (p.Ala1510fs)
|
rs1554820966
|
|
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs)
|
rs1233449433
|
|
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)
|
rs1233449433
|
|
NM_033056.4(PCDH15):c.4566_4569dup (p.Ala1524fs)
|
rs2132508767
|
|
NM_033056.4(PCDH15):c.4596_4600dup (p.Ser1534delinsThrTer)
|
rs2132508266
|
|
NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile)
|
rs780662896
|
|
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)
|
rs730880357
|
|
NM_033056.4(PCDH15):c.4741C>T (p.Pro1581Ser)
|
|
|
NM_033056.4(PCDH15):c.4865_4871dup (p.Leu1625fs)
|
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)
|
rs557936064
|
|
NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del)
|
rs978342737
|
|
NM_033056.4(PCDH15):c.5481C>A (p.Cys1827Ter)
|
rs1588927571
|
|
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs)
|
rs1554819761
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr)
|
rs886047060
|
|
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
|
rs568470164
|
|
NM_153676.4(USH1C):c.-60T>G
|
rs371444878
|
|
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer)
|
rs1554960390
|
|
NM_153676.4(USH1C):c.1144G>T (p.Glu382Ter)
|
|
|
NM_153676.4(USH1C):c.135C>T (p.Asp45=)
|
rs140319839
|
|
NM_153676.4(USH1C):c.2217dup (p.Tyr740fs)
|
|
|
NM_153676.4(USH1C):c.2371G>T (p.Glu791Ter)
|
|
|
NM_153676.4(USH1C):c.2381-7_2381del
|
rs2496984080
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.2490+1del
|
rs1366154374
|
|
NM_153676.4(USH1C):c.348_373del (p.His116fs)
|
rs2133917820
|
|
NM_153676.4(USH1C):c.388-1G>A
|
rs1364331716
|
|
NM_153676.4(USH1C):c.491_492del (p.Val164fs)
|
rs1850741468
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+1G>T
|
rs138138689
|
|
NM_153676.4(USH1C):c.496_496+4del
|
rs1381315419
|
|
NM_153676.4(USH1C):c.579+1G>C
|
rs1283092935
|
|
NM_153676.4(USH1C):c.580-2A>T
|
rs1850678559
|
|
NM_153676.4(USH1C):c.711del (p.Phe237fs)
|
rs1427085382
|
|
NM_153676.4(USH1C):c.876+2_876+19del
|
|
|
NM_153676.4(USH1C):c.878_882delinsA (p.Gly293fs)
|
|
|
NM_153676.4(USH1C):c.912_934dup (p.Leu312fs)
|
|
|
NM_173477.5(USH1G):c.1004dup (p.Leu336fs)
|
rs1359109336
|
|
NM_173477.5(USH1G):c.1150_1156del (p.Asp384fs)
|
|
|
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter)
|
rs928656346
|
|
NM_173477.5(USH1G):c.275G>A (p.Trp92Ter)
|
rs2544431739
|
|
NM_173477.5(USH1G):c.370C>T (p.Gln124Ter)
|
|
|
NM_173477.5(USH1G):c.387dup (p.Lys130fs)
|
rs2144755152
|
|
NM_173477.5(USH1G):c.445G>T (p.Glu149Ter)
|
|
|
NM_173477.5(USH1G):c.623dup (p.Thr209fs)
|
|
|
NM_173477.5(USH1G):c.723_726dup (p.Ser243fs)
|
|
|
NM_173477.5(USH1G):c.742del (p.Gln248fs)
|
|
|