NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His)
|
rs117612144
|
0.00347
|
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)
|
rs200451098
|
0.00013
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)
|
rs372466080
|
0.00011
|
NM_016239.4(MYO15A):c.5964+3G>C
|
rs530975087
|
0.00009
|
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)
|
rs376351191
|
0.00007
|
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)
|
rs766187994
|
0.00006
|
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)
|
rs749136456
|
0.00006
|
NM_016239.4(MYO15A):c.8714-1G>A
|
rs377015931
|
0.00006
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_016239.4(MYO15A):c.6046+1G>A
|
rs201978571
|
0.00005
|
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)
|
rs1270302810
|
0.00004
|
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp)
|
rs759663463
|
0.00004
|
NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val)
|
rs191710555
|
0.00003
|
NM_016239.4(MYO15A):c.3756+1G>T
|
rs748108031
|
0.00003
|
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)
|
rs748868741
|
0.00002
|
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys)
|
rs878854411
|
0.00002
|
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)
|
rs201067821
|
0.00002
|
NM_016239.4(MYO15A):c.9572G>A (p.Arg3191His)
|
rs373520843
|
0.00002
|
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter)
|
rs1233145763
|
0.00001
|
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter)
|
rs781546107
|
0.00001
|
NM_016239.4(MYO15A):c.3866+1G>A
|
rs374742590
|
0.00001
|
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg)
|
rs753790346
|
0.00001
|
NM_016239.4(MYO15A):c.4322G>T (p.Gly1441Val)
|
rs772995303
|
0.00001
|
NM_016239.4(MYO15A):c.5141A>T (p.Lys1714Met)
|
rs529797013
|
0.00001
|
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter)
|
rs765468034
|
0.00001
|
NM_016239.4(MYO15A):c.6956+9C>G
|
rs1482709090
|
0.00001
|
NM_016239.4(MYO15A):c.7396-1G>A
|
rs760461823
|
0.00001
|
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs)
|
rs1221876133
|
0.00001
|
NM_016239.4(MYO15A):c.8340+5G>A
|
rs752773977
|
0.00001
|
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=)
|
rs878853228
|
0.00001
|
NM_016239.4(MYO15A):c.8375T>C (p.Val2792Ala)
|
rs983107737
|
0.00001
|
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter)
|
rs768257384
|
0.00001
|
NM_016239.4(MYO15A):c.8968-1G>T
|
rs746051220
|
0.00001
|
NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter)
|
rs1330631412
|
0.00001
|
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter)
|
rs759523751
|
0.00001
|
NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC
|
|
|
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs)
|
rs750130520
|
|
NM_016239.3(MYO15A):c.[373_374delCG];[8183G>A]
|
|
|
NM_016239.4(MYO15A):c.10177C>T (p.Gln3393Ter)
|
rs2142429182
|
|
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del)
|
rs760069953
|
|
NM_016239.4(MYO15A):c.10252TTC[2] (p.Phe3420del)
|
rs1174503300
|
|
NM_016239.4(MYO15A):c.10350+2T>G
|
rs760148486
|
|
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs)
|
rs2142436425
|
|
NM_016239.4(MYO15A):c.10425C>A (p.Tyr3475Ter)
|
|
|
NM_016239.4(MYO15A):c.10538_10544del (p.Leu3513fs)
|
rs2142451116
|
|
NM_016239.4(MYO15A):c.10572dup (p.Ser3525fs)
|
rs1057519607
|
|
NM_016239.4(MYO15A):c.10585del (p.Leu3529fs)
|
rs2047052213
|
|
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)
|
rs769260536
|
|
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs)
|
rs1567620939
|
|
NM_016239.4(MYO15A):c.1178_1179del (p.Tyr393fs)
|
|
|
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs)
|
rs772536599
|
|
NM_016239.4(MYO15A):c.1201del (p.Tyr401fs)
|
rs2142244823
|
|
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter)
|
rs1597752877
|
|
NM_016239.4(MYO15A):c.1657del (p.Arg553fs)
|
|
|
NM_016239.4(MYO15A):c.1661del (p.Gly554fs)
|
rs1245338270
|
|
NM_016239.4(MYO15A):c.201_202del (p.Gln68fs)
|
rs2142236482
|
|
NM_016239.4(MYO15A):c.212del (p.Lys71fs)
|
rs2142236554
|
|
NM_016239.4(MYO15A):c.2266_2272dup (p.Pro758fs)
|
rs2142253567
|
|
NM_016239.4(MYO15A):c.2958del (p.Arg987fs)
|
rs2142258855
|
|
NM_016239.4(MYO15A):c.3123del (p.Lys1042fs)
|
rs769230097
|
|
NM_016239.4(MYO15A):c.3141del (p.Lys1048fs)
|
rs1317243760
|
|
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer)
|
rs794729637
|
|
NM_016239.4(MYO15A):c.3313G>T (p.Glu1105Ter)
|
rs121908971
|
|
NM_016239.4(MYO15A):c.3336del (p.Arg1113fs)
|
rs769884586
|
|
NM_016239.4(MYO15A):c.343del (p.Arg115fs)
|
|
|
NM_016239.4(MYO15A):c.3474G>A (p.Trp1158Ter)
|
|
|
NM_016239.4(MYO15A):c.3685C>T (p.Gln1229Ter)
|
rs121908968
|
|
NM_016239.4(MYO15A):c.3693-2A>G
|
rs2142274411
|
|
NM_016239.4(MYO15A):c.3700C>T (p.Gln1234Ter)
|
rs2142274433
|
|
NM_016239.4(MYO15A):c.373_374del (p.Arg125fs)
|
rs878853239
|
|
NM_016239.4(MYO15A):c.3829C>T (p.Gln1277Ter)
|
rs2142280018
|
|
NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu)
|
rs878854410
|
|
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys)
|
rs1060499798
|
|
NM_016239.4(MYO15A):c.439G>T (p.Glu147Ter)
|
|
|
NM_016239.4(MYO15A):c.4441T>C (p.Ser1481Pro)
|
rs758896141
|
|
NM_016239.4(MYO15A):c.4519C>T (p.Arg1507Ter)
|
rs549138385
|
|
NM_016239.4(MYO15A):c.4522G>T (p.Glu1508Ter)
|
rs1567638693
|
|
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter)
|
rs779077039
|
|
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter)
|
rs1209665716
|
|
NM_016239.4(MYO15A):c.4571dup (p.Lys1525fs)
|
rs2046256329
|
|
NM_016239.4(MYO15A):c.4596+1G>A
|
|
|
NM_016239.4(MYO15A):c.4596+2_4596+3del
|
rs2142315894
|
|
NM_016239.4(MYO15A):c.4609G>T (p.Glu1537Ter)
|
rs1555543432
|
|
NM_016239.4(MYO15A):c.4660G>A (p.Ala1554Thr)
|
|
|
NM_016239.4(MYO15A):c.477G>A (p.Trp159Ter)
|
rs1567618790
|
|
NM_016239.4(MYO15A):c.4780G>C (p.Asp1594His)
|
rs878854412
|
|
NM_016239.4(MYO15A):c.4879G>T (p.Glu1627Ter)
|
rs1597787868
|
|
NM_016239.4(MYO15A):c.488C>A (p.Ser163Ter)
|
rs773729617
|
|
NM_016239.4(MYO15A):c.5001del (p.Gln1669fs)
|
rs2142326062
|
|
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter)
|
rs1567641234
|
|
NM_016239.4(MYO15A):c.5134-1G>A
|
rs2142330705
|
|
NM_016239.4(MYO15A):c.5193_5194insACAG (p.Val1732fs)
|
rs2142330998
|
|
NM_016239.4(MYO15A):c.5335del (p.Leu1779fs)
|
rs878854413
|
|
NM_016239.4(MYO15A):c.5492G>T (p.Gly1831Val)
|
rs121908972
|
|
NM_016239.4(MYO15A):c.5531+1G>A
|
rs727503309
|
|
NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter)
|
rs2046392476
|
|
NM_016239.4(MYO15A):c.5722_5725del (p.Thr1908fs)
|
rs2142341338
|
|
NM_016239.4(MYO15A):c.5809C>G (p.Arg1937Gly)
|
rs749465098
|
|
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys)
|
rs749465098
|
|
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter)
|
rs2142343642
|
|
NM_016239.4(MYO15A):c.5964+3G>A
|
rs530975087
|
|
NM_016239.4(MYO15A):c.596C>G (p.Ser199Ter)
|
rs2142240125
|
|
NM_016239.4(MYO15A):c.605C>A (p.Pro202His)
|
rs1229200252
|
|
NM_016239.4(MYO15A):c.6146C>A (p.Pro2049His)
|
rs878854414
|
|
NM_016239.4(MYO15A):c.6177+1G>T
|
rs751142446
|
|
NM_016239.4(MYO15A):c.6178-2A>G
|
rs878854415
|
|
NM_016239.4(MYO15A):c.6194del (p.Met2065fs)
|
|
|
NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter)
|
rs571594379
|
|
NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr)
|
rs121908966
|
|
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)
|
rs121908965
|
|
NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met)
|
rs377385081
|
|
NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg)
|
rs1567648703
|
|
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter)
|
rs779445819
|
|
NM_016239.4(MYO15A):c.6599C>A (p.Ser2200Ter)
|
|
|
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter)
|
rs1567649945
|
|
NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter)
|
|
|
NM_016239.4(MYO15A):c.6898A>T (p.Lys2300Ter)
|
rs2142363296
|
|
NM_016239.4(MYO15A):c.6944del (p.Gly2315fs)
|
rs1057519604
|
|
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)
|
rs780170125
|
|
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr)
|
rs878853227
|
|
NM_016239.4(MYO15A):c.742C>G (p.Arg248Gly)
|
rs878854409
|
|
NM_016239.4(MYO15A):c.7523del (p.Pro2508fs)
|
rs2142369409
|
|
NM_016239.4(MYO15A):c.7550C>G (p.Thr2517Ser)
|
rs201119351
|
|
NM_016239.4(MYO15A):c.7654+1G>A
|
rs1338603862
|
|
NM_016239.4(MYO15A):c.7698_7699del (p.Glu2567fs)
|
rs2142370409
|
|
NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC
|
|
|
NM_016239.4(MYO15A):c.7801A>T (p.Lys2601Ter)
|
rs121908967
|
|
NM_016239.4(MYO15A):c.8130dup (p.Asp2711Ter)
|
rs2142377997
|
|
NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His)
|
rs121908969
|
|
NM_016239.4(MYO15A):c.8152del (p.Leu2718fs)
|
rs2142379446
|
|
NM_016239.4(MYO15A):c.8324G>T (p.Arg2775Leu)
|
rs773476384
|
|
NM_016239.4(MYO15A):c.8362C>T (p.Gln2788Ter)
|
rs2142381989
|
|
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn)
|
rs878853238
|
|
NM_016239.4(MYO15A):c.8524G>T (p.Glu2842Ter)
|
rs766250454
|
|
NM_016239.4(MYO15A):c.8583del (p.Phe2861fs)
|
rs2142384617
|
|
NM_016239.4(MYO15A):c.8713+3_8713+6del
|
rs2142386632
|
|
NM_016239.4(MYO15A):c.8730C>A (p.Cys2910Ter)
|
rs776201118
|
|
NM_016239.4(MYO15A):c.8746GTG[1] (p.Val2917del)
|
rs2142387013
|
|
NM_016239.4(MYO15A):c.8828dup (p.Ser2945fs)
|
rs751628774
|
|
NM_016239.4(MYO15A):c.8831del (p.Pro2944fs)
|
|
|
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs)
|
rs2046704290
|
|
NM_016239.4(MYO15A):c.8968-1G>C
|
rs746051220
|
|
NM_016239.4(MYO15A):c.8976dup (p.Val2993fs)
|
rs2142391112
|
|
NM_016239.4(MYO15A):c.900del (p.Pro301fs)
|
rs2142242418
|
|
NM_016239.4(MYO15A):c.9083+6T>A
|
rs1555547112
|
|
NM_016239.4(MYO15A):c.9229+2T>C
|
rs1057519606
|
|
NM_016239.4(MYO15A):c.9358C>T (p.Gln3120Ter)
|
rs774255124
|
|
NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys)
|
|
|
NM_016239.4(MYO15A):c.9518-2A>G
|
|
|
NM_016239.4(MYO15A):c.9534C>A (p.Cys3178Ter)
|
rs2142402323
|
|
NM_016239.4(MYO15A):c.9690+1G>A
|
rs2142404134
|
|
NM_016239.4(MYO15A):c.9787+1G>A
|
rs769937488
|
|
NM_016239.4(MYO15A):c.9941del (p.Tyr3314fs)
|
rs2142413310
|
|
NM_016239.4(MYO15A):c.9942_9943delinsTGTGTG (p.Asn3315delinsValTer)
|
rs2142413318
|
|
NM_016239.4(MYO15A):c.9958_9961del (p.Asp3320fs)
|
rs1567664131
|
|
NM_016239.4(MYO15A):c.[1185dup];[4879G>T]
|
|
|
NM_016239.4(MYO15A):c.[6580C>T];[7124_7127del]
|
|
|