NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)
|
rs387906639
|
0.00009
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
|
rs121965085
|
0.00004
|
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
|
rs41298133
|
0.00004
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)
|
rs199566950
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_206933.4(USH2A):c.779T>G (p.Leu260Ter)
|
rs121912598
|
0.00002
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro)
|
rs141748845
|
0.00001
|
NM_001267727.2(ARSG):c.338G>A (p.Gly113Asp)
|
rs1244718647
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_022124.6(CDH23):c.7362+5G>A
|
rs727502931
|
0.00001
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085
|
0.00001
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)
|
rs111033267
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
MYO7A, IVS27AS, G-C, -1
|
|
|
NG_007083.1:g.371658_507674del
|
|
|
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile)
|
rs121965082
|
|
NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter)
|
rs121965083
|
|
NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter)
|
rs121965079
|
|
NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del)
|
rs1555062984
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
NM_000260.4(MYO7A):c.[3256del;3260T>C]
|
|
|
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs)
|
rs587776894
|
|
NM_001267727.2(ARSG):c.1024C>T (p.Arg342Trp)
|
|
|
NM_001267727.2(ARSG):c.1212+1G>A
|
|
|
NM_001267727.2(ARSG):c.1270C>T (p.Arg424Cys)
|
rs751663413
|
|
NM_001267727.2(ARSG):c.1326del (p.Ser443fs)
|
rs751461705
|
|
NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr)
|
rs1568445893
|
|
NM_001267727.2(ARSG):c.275T>C (p.Leu92Pro)
|
|
|
NM_001267727.2(ARSG):c.588C>A (p.Tyr196Ter)
|
|
|
NM_001267727.2(ARSG):c.705-3940_982+2952del
|
|
|
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs)
|
rs199469706
|
|
NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter)
|
rs137853004
|
|
NM_001384140.1(PCDH15):c.3718-2A>G
|
rs1307471318
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)
|
rs145415848
|
|
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)
|
rs137852840
|
|
NM_015404.4(WHRN):c.680dup (p.Tyr228fs)
|
rs1306987034
|
|
NM_015404.4(WHRN):c.737del (p.Pro246fs)
|
rs1589229634
|
|
NM_015404.4(WHRN):c.837+1G>A
|
rs2133130286
|
|
NM_022124.6(CDH23):c.193del (p.Leu65fs)
|
rs796051861
|
|
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)
|
rs796051860
|
|
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter)
|
rs121908350
|
|
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)
|
rs121908347
|
|
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)
|
rs121909763
|
|
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer)
|
rs796051865
|
|
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs)
|
rs796051866
|
|
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs)
|
rs796051867
|
|
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs)
|
rs796051863
|
|
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs)
|
rs796051864
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_153676.4(USH1C):c.2227-1G>A
|
rs778110397
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.36+1G>T
|
rs1403777293
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9]
|
rs55983148
|
|
NM_173477.5(USH1G):c.113G>A (p.Trp38Ter)
|
rs104894652
|
|
NM_173477.5(USH1G):c.143T>C (p.Leu48Pro)
|
rs104894651
|
|
NM_173477.5(USH1G):c.163_164+13del
|
|
|
NM_173477.5(USH1G):c.186_187del (p.Ile63fs)
|
rs730880268
|
|
NM_173477.5(USH1G):c.394dup (p.Val132fs)
|
rs587776546
|
|
NM_173477.5(USH1G):c.832_851del (p.Ser278fs)
|
rs397515345
|
|
NM_174878.3(CLRN1):c.188_210del (p.Tyr63fs)
|
rs1553776036
|
|
NM_174878.3(CLRN1):c.359T>A (p.Met120Lys)
|
rs121908141
|
|
NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)
|
rs121908142
|
|
NM_174878.3(CLRN1):c.459_461del (p.Ile153_Leu154delinsMet)
|
rs1085307049
|
|
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs)
|
rs587776538
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
NM_206933.4(USH2A):c.3129dup (p.Val1044fs)
|
rs786205115
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs)
|
rs786205116
|
|
m.12258C>A
|
rs118203888
|
|