NM_194248.3(OTOF):c.2736G>C (p.Leu912=)
|
rs4335905
|
0.56927
|
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)
|
rs13031859
|
0.35740
|
NM_194248.3(OTOF):c.372A>G (p.Thr124=)
|
rs11687696
|
0.23539
|
NM_194248.3(OTOF):c.945G>A (p.Lys315=)
|
rs41288779
|
0.07420
|
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=)
|
rs45442103
|
0.04640
|
NM_194248.3(OTOF):c.4677G>A (p.Val1559=)
|
rs2272071
|
0.03875
|
NM_194248.3(OTOF):c.2022C>T (p.Asp674=)
|
rs13004993
|
0.03023
|
NM_194248.3(OTOF):c.158C>T (p.Ala53Val)
|
rs1879761
|
0.02762
|
NM_194248.3(OTOF):c.1926C>T (p.Asn642=)
|
rs72853741
|
0.02727
|
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=)
|
rs80356573
|
0.01570
|
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys)
|
rs80356569
|
0.01549
|
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)
|
rs80356578
|
0.01544
|
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro)
|
rs80356574
|
0.01529
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=)
|
rs61747275
|
0.01514
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln)
|
rs56054534
|
0.00860
|
NM_194248.3(OTOF):c.2025G>A (p.Glu675=)
|
rs61746988
|
0.00801
|
NM_194248.3(OTOF):c.1723G>A (p.Val575Met)
|
rs55676840
|
0.00781
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
0.00096
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu)
|
rs181805996
|
0.00011
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
NM_194248.3(OTOF):c.4227+1G>T
|
rs397515601
|
0.00009
|
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln)
|
rs80356601
|
0.00009
|
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)
|
rs780320724
|
0.00006
|
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)
|
rs80358269
|
0.00005
|
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)
|
rs80356595
|
0.00005
|
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)
|
rs80356593
|
0.00004
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00004
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
|
rs111033405
|
0.00002
|
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp)
|
rs368790049
|
0.00002
|
NM_001110219.3(GJB6):c.14C>T (p.Thr5Met)
|
rs104894414
|
0.00001
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
0.00001
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter)
|
rs1648206560
|
0.00001
|
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)
|
rs80358277
|
0.00001
|
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter)
|
rs397515582
|
0.00001
|
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr)
|
rs80356586
|
0.00001
|
NM_194248.3(OTOF):c.2991+1G>A
|
rs80356594
|
0.00001
|
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter)
|
rs199848801
|
0.00001
|
NM_194248.3(OTOF):c.4157C>T (p.Thr1386Ile)
|
rs397515600
|
0.00001
|
NM_194248.3(OTOF):c.4819C>T (p.Arg1607Trp)
|
rs397515603
|
0.00001
|
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys)
|
rs397515605
|
0.00001
|
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln)
|
rs397515608
|
0.00001
|
NM_194248.3(OTOF):c.5712+1G>A
|
rs80356604
|
0.00001
|
NC_000013.11:g.20365207_20496559del
|
|
|
NC_012920.1:m.1494C>T
|
rs267606619
|
|
NC_012920.1:m.1555A>G
|
rs267606617
|
|
NC_012920.1:m.7443A>G
|
rs397507452
|
|
NC_012920.1:m.7444G>A
|
rs199474822
|
|
NC_012920.1:m.7445A>G
|
rs199474818
|
|
NC_012920.1:m.7445A>T
|
rs199474818
|
|
NC_012920.1:m.7462C>T
|
rs1569484151
|
|
NC_012920.1:m.7471dup
|
rs111033319
|
|
NC_012920.1:m.7505T>C
|
rs724159989
|
|
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn)
|
rs180177151
|
|
NM_002764.4(PRPS1):c.244G>C (p.Ala82Pro)
|
|
|
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr)
|
rs180177152
|
|
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr)
|
rs180177153
|
|
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg)
|
rs180177154
|
|
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser)
|
rs104894413
|
|
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys)
|
rs104894407
|
|
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn)
|
rs1064797088
|
|
NM_004004.6(GJB2):c.164C>A (p.Thr55Asn)
|
rs1064797089
|
|
NM_004004.6(GJB2):c.172C>G (p.Pro58Ala)
|
rs1064797090
|
|
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
|
rs104894402
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004004.6(GJB2):c.487A>C (p.Met163Leu)
|
rs80338949
|
|
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn)
|
rs28931595
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
|
rs80338941
|
|
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)
|
rs104894406
|
|
NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=)
|
rs80358270
|
|
NM_004700.4(KCNQ4):c.211del (p.Gln71fs)
|
rs80358272
|
|
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs)
|
rs80358271
|
|
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)
|
rs28937588
|
|
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys)
|
rs28937588
|
|
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg)
|
rs137853969
|
|
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
|
rs74315205
|
|
NM_194248.1:c.1912-2C>T
|
|
|
NM_194248.1:c.2295_2297delG
|
|
|
NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG
|
|
|
NM_194248.1:c.5860_5862delATC
|
|
|
NM_194248.1:c.766-2T>A
|
|
|
NM_194248.3(OTOF):c.1103_1104delinsC (p.Gly368fs)
|
rs397515579
|
|
NM_194248.3(OTOF):c.1180dup (p.Glu394fs)
|
rs397515580
|
|
NM_194248.3(OTOF):c.1236del (p.Glu413fs)
|
rs397515581
|
|
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln)
|
rs80356585
|
|
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs)
|
rs1443739332
|
|
NM_194248.3(OTOF):c.1601del (p.Pro534fs)
|
rs397515583
|
|
NM_194248.3(OTOF):c.1607G>A (p.Trp536Ter)
|
rs397515584
|
|
NM_194248.3(OTOF):c.1609del (p.Trp536_Val537insTer)
|
rs397515585
|
|
NM_194248.3(OTOF):c.1651del (p.Glu551fs)
|
rs80356587
|
|
NM_194248.3(OTOF):c.1718T>G (p.Leu573Arg)
|
rs397515586
|
|
NM_194248.3(OTOF):c.1740del (p.Ser581fs)
|
rs397515587
|
|
NM_194248.3(OTOF):c.1780G>A (p.Glu594Lys)
|
rs397515588
|
|
NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu)
|
rs397515589
|
|
NM_194248.3(OTOF):c.1886dup (p.Pro630fs)
|
rs80356588
|
|
NM_194248.3(OTOF):c.1966del (p.Arg656fs)
|
rs397515590
|
|
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)
|
rs80356590
|
|
NM_194248.3(OTOF):c.2214+1G>T
|
rs80356589
|
|
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter)
|
rs397515591
|
|
NM_194248.3(OTOF):c.2316C>A (p.Cys772Ter)
|
rs397515592
|
|
NM_194248.3(OTOF):c.2348del (p.Gly783fs)
|
rs80356591
|
|
NM_194248.3(OTOF):c.2580C>G (p.Val860=)
|
rs2272069
|
|
NM_194248.3(OTOF):c.2649C>A (p.Cys883Ter)
|
rs397515593
|
|
NM_194248.3(OTOF):c.2684_2685del (p.Gly895fs)
|
rs397515594
|
|
NM_194248.3(OTOF):c.2732_2735dup (p.Tyr913fs)
|
rs397515595
|
|
NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu)
|
rs201329629
|
|
NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA (p.Ala969fs)
|
rs397515596
|
|
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs)
|
rs397515597
|
|
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro)
|
rs80356596
|
|
NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro)
|
rs397515598
|
|
NM_194248.3(OTOF):c.3269C>A (p.Ala1090Glu)
|
rs370609551
|
|
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro)
|
rs397515599
|
|
NM_194248.3(OTOF):c.3571-2A>C
|
rs80356597
|
|
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter)
|
rs80356598
|
|
NM_194248.3(OTOF):c.4351G>T (p.Gly1451Ter)
|
rs397515602
|
|
NM_194248.3(OTOF):c.4467dup (p.Ile1490fs)
|
rs797044816
|
|
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)
|
rs147321712
|
|
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter)
|
rs80356600
|
|
NM_194248.3(OTOF):c.4500+2T>G
|
rs80356599
|
|
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter)
|
rs143939430
|
|
NM_194248.3(OTOF):c.4873G>A (p.Val1625Met)
|
rs80356579
|
|
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser)
|
rs17005371
|
|
NM_194248.3(OTOF):c.4960+1G>C
|
rs80356602
|
|
NM_194248.3(OTOF):c.5011dup (p.Trp1671fs)
|
rs397515604
|
|
NM_194248.3(OTOF):c.5384T>G (p.Phe1795Cys)
|
rs397515606
|
|
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del)
|
rs397515607
|
|
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala)
|
rs28937591
|
|
NM_194248.3(OTOF):c.5663G>A (p.Gly1888Asp)
|
rs80356583
|
|
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)
|
rs397515609
|
|
NM_194248.3(OTOF):c.5960C>G (p.Pro1987Arg)
|
rs80356606
|
|
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter)
|
rs397515610
|
|
NM_194248.3(OTOF):c.765G>C (p.Gln255His)
|
rs397515611
|
|
NM_194248.3(OTOF):c.766-2A>G
|
rs80356584
|
|
Single allele
|
|
|
c.667_684del(664_681del)
|
|
|
del(GJB6-D13S1830)
|
|
|
m.7445A>C
|
rs199474818
|
|
m.7510T>C
|
rs199474820
|
|
m.7511T>C
|
rs199474821
|
|
m.961T>G
|
rs3888511
|
|
m.961_962delTinsC(n)
|
|
|