NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys)
|
rs41303344
|
0.00668
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)
|
rs111033480
|
0.00142
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_022124.6(CDH23):c.2587+35C>T
|
rs186492861
|
0.00026
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035
|
0.00009
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)
|
rs757163581
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
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_206933.4(USH2A):c.9286G>A (p.Val3096Met)
|
rs147267500
|
0.00005
|
NM_000260.4(MYO7A):c.1A>G (p.Met1Val)
|
rs797044518
|
0.00004
|
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_000260.4(MYO7A):c.2905-1G>A
|
rs1171417339
|
0.00003
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile)
|
rs397517340
|
0.00003
|
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter)
|
rs749956288
|
0.00003
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)
|
rs777309662
|
0.00002
|
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu)
|
rs377581131
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys)
|
rs797044511
|
0.00001
|
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)
|
rs750358148
|
0.00001
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)
|
rs1383147250
|
0.00001
|
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)
|
rs759468416
|
0.00001
|
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)
|
rs556148352
|
0.00001
|
NM_032119.4(ADGRV1):c.13654-5C>T
|
rs367554300
|
0.00001
|
NM_032119.4(ADGRV1):c.9749-2del
|
rs1751549898
|
0.00001
|
NM_153676.4(USH1C):c.440A>G (p.His147Arg)
|
rs777591673
|
0.00001
|
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg)
|
rs1380661508
|
0.00001
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303
|
0.00001
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.14134-3169A>G
|
rs998302546
|
0.00001
|
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile)
|
rs770553471
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00001
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser)
|
rs748465849
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
|
|
|
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
|
|
|
NC_000001.10:g.(?_216011333)_(216040512_?)del
|
|
|
NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del
|
|
|
NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del
|
|
|
NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup
|
|
|
NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del
|
|
|
NC_000010.10:g.(73454017_73455174)_73468962del
|
|
|
NC_000010.11:g.(?_71645831)_(71646617_?)del
|
|
|
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs)
|
rs1555051390
|
|
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg)
|
rs797044492
|
|
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT
|
rs1954226902
|
|
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)
|
rs782063761
|
|
NM_000260.4(MYO7A):c.1929dup (p.Pro644fs)
|
|
|
NM_000260.4(MYO7A):c.1977del (p.Gly660fs)
|
rs1555078942
|
|
NM_000260.4(MYO7A):c.2093A>G (p.Gln698Arg)
|
|
|
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter)
|
rs116892396
|
|
NM_000260.4(MYO7A):c.3504-1G>A
|
|
|
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)
|
rs1555090294
|
|
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs)
|
rs397516304
|
|
NM_000260.4(MYO7A):c.4018G>C (p.Ala1340Pro)
|
|
|
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His)
|
rs2135577456
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)
|
rs397516332
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)
|
rs797044491
|
|
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
|
rs542296728
|
|
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs)
|
rs1591095476
|
|
NM_001384140.1(PCDH15):c.475-2204_594+1766del
|
|
|
NM_001384140.1(PCDH15):c.705+5G>A
|
|
|
NM_015404.4(WHRN):c.375del (p.Ala126fs)
|
rs751838091
|
|
NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)
|
|
|
NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)
|
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met)
|
rs377358096
|
|
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
|
rs876657754
|
|
NM_022124.6(CDH23):c.5067+1G>A
|
|
|
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs)
|
rs2132929769
|
|
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
|
rs762226905
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
|
NM_022124.6(CDH23):c.8064+1G>A
|
rs1474524543
|
|
NM_022124.6(CDH23):c.913del (p.Leu305fs)
|
rs1393567447
|
|
NM_022124.6(CDH23):c.9278+2T>A
|
|
|
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)
|
|
|
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)
|
rs1758488956
|
|
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)
|
|
|
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)
|
|
|
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His)
|
rs1554117973
|
|
NM_032119.4(ADGRV1):c.16196+1G>T
|
rs1326895760
|
|
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)
|
rs1764301206
|
|
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)
|
|
|
NM_032119.4(ADGRV1):c.2898+2T>C
|
|
|
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs)
|
rs1554081619
|
|
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)
|
|
|
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)
|
|
|
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter)
|
rs1554090072
|
|
NM_033056.4(PCDH15):c.5671G>A (p.Glu1891Lys)
|
|
|
NM_145200.5(CABP4):c.626G>T (p.Arg209Leu)
|
rs552701854
|
|
NM_153676.4(USH1C):c.104+2T>C
|
|
|
NM_153676.4(USH1C):c.748_759+5del
|
rs1355262412
|
|
NM_173477.5(USH1G):c.1382+2_1382+3del
|
|
|
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter)
|
rs1226851798
|
|
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
|
|
|
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)
|
rs544952984
|
|
NM_174878.3(CLRN1):c.434G>T (p.Gly145Val)
|
rs765085056
|
|
NM_197964.5(FMC1):c.104A>G (p.Tyr35Cys)
|
|
|
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
|
|
|
NM_206933.2(USH2A):c.1644+10004_1972-12164del
|
|
|
NM_206933.3(USH2A):c.12295-?_14133+?del
|
|
|
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)
|
rs1403618793
|
|
NM_206933.4(USH2A):c.10183-1375_10387+1389del
|
|
|
NM_206933.4(USH2A):c.11694del (p.Asn3899fs)
|
rs1553257502
|
|
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
|
|
|
NM_206933.4(USH2A):c.12309del (p.Phe4103fs)
|
rs1553252528
|
|
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter)
|
rs1362058696
|
|
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)
|
rs553956503
|
|
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs)
|
rs2102661317
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
NM_206933.4(USH2A):c.14969-2A>G
|
rs2102634730
|
|
NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr)
|
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.1888del (p.Ala630fs)
|
rs2102606427
|
|
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg)
|
|
|
NM_206933.4(USH2A):c.3158-6A>G
|
rs397518010
|
|
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)
|
|
|
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)
|
rs762167370
|
|
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs)
|
rs397518013
|
|
NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del)
|
rs1215540106
|
|
NM_206933.4(USH2A):c.4251+1del
|
rs2102460236
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
|
|
|
NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val)
|
|
|
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)
|
rs886039867
|
|
NM_206933.4(USH2A):c.5588dup (p.Met1863fs)
|
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)
|
rs869312182
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.698del (p.Asp233fs)
|
|
|
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
|
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
|
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
|
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
|
rs2037760415
|
|
NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro)
|
|
|
NM_206933.4(USH2A):c.9315del (p.Val3106fs)
|
|
|
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)
|
rs1662880811
|
|
Single allele
|
|
|