NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
NM_001134831.2(AHI1):c.2623+1G>A
|
rs751823180
|
0.00006
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val)
|
rs863225147
|
0.00004
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)
|
rs372659908
|
0.00003
|
NM_001134831.2(AHI1):c.1312dup (p.Asp438fs)
|
rs748438350
|
0.00002
|
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs)
|
rs1445681647
|
0.00002
|
NM_001134831.2(AHI1):c.276del (p.Ser93fs)
|
rs765985758
|
0.00002
|
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)
|
rs761732432
|
0.00002
|
NM_001134831.2(AHI1):c.3364C>T (p.Arg1122Ter)
|
rs1487081231
|
0.00002
|
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs)
|
rs759593846
|
0.00002
|
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)
|
rs863225138
|
0.00002
|
NM_001134831.2(AHI1):c.1152-2A>G
|
rs753085250
|
0.00001
|
NM_001134831.2(AHI1):c.1235dup (p.Leu413fs)
|
rs772289223
|
0.00001
|
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter)
|
rs863225143
|
0.00001
|
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His)
|
rs387907003
|
0.00001
|
NM_001134831.2(AHI1):c.1497_1498del (p.Tyr499_Tyr500delinsTer)
|
rs905262279
|
0.00001
|
NM_001134831.2(AHI1):c.1626+1G>A
|
rs863225137
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
0.00001
|
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val)
|
rs541041911
|
0.00001
|
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)
|
rs1785745572
|
0.00001
|
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)
|
rs756276537
|
0.00001
|
NM_001134831.2(AHI1):c.2172del (p.Trp725fs)
|
rs755407014
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)
|
rs863225135
|
0.00001
|
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp)
|
rs368788993
|
0.00001
|
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)
|
rs774628957
|
0.00001
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)
|
rs863225142
|
0.00001
|
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter)
|
rs201391050
|
0.00001
|
NC_000006.11:g.(?_135679250)_(135754414_?)del
|
|
|
NC_000006.11:g.(?_135749747)_(135784464_?)del
|
|
|
NC_000006.11:g.(?_135749761)_(135784450_?)del
|
|
|
NC_000006.11:g.(?_135751000)_(135754414_?)del
|
|
|
NC_000006.11:g.(?_135769428)_(135769613_?)del
|
|
|
NC_000006.12:g.(?_135358112)_(135358207_?)del
|
|
|
NC_000006.12:g.(?_135429882)_(135433256_?)del
|
|
|
NC_000006.12:g.135358181_135358190del
|
|
|
NM_001134831.2(AHI1):c.101del (p.Lys34fs)
|
|
|
NM_001134831.2(AHI1):c.102del (p.Lys36fs)
|
|
|
NM_001134831.2(AHI1):c.1034T>A (p.Leu345Ter)
|
|
|
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)
|
rs2128081591
|
|
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)
|
rs121434348
|
|
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.1057_1064del (p.Thr352_Asp353insTer)
|
|
|
NM_001134831.2(AHI1):c.1064_1065del (p.Leu355fs)
|
|
|
NM_001134831.2(AHI1):c.1069del (p.Ser357fs)
|
|
|
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly)
|
rs863225133
|
|
NM_001134831.2(AHI1):c.1119del (p.Glu373fs)
|
|
|
NM_001134831.2(AHI1):c.1151+1del
|
|
|
NM_001134831.2(AHI1):c.1152-1G>A
|
|
|
NM_001134831.2(AHI1):c.1166C>G (p.Ser389Ter)
|
rs761388040
|
|
NM_001134831.2(AHI1):c.1171del (p.Tyr391fs)
|
|
|
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)
|
rs794729195
|
|
NM_001134831.2(AHI1):c.1230del (p.Phe410fs)
|
|
|
NM_001134831.2(AHI1):c.1242del (p.Lys414fs)
|
rs1165489547
|
|
NM_001134831.2(AHI1):c.1255G>T (p.Glu419Ter)
|
|
|
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)
|
rs121434349
|
|
NM_001134831.2(AHI1):c.1326del (p.Val443fs)
|
rs1788834778
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.1355del (p.Phe452fs)
|
rs1554208431
|
|
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer)
|
rs2128071123
|
|
NM_001134831.2(AHI1):c.1420del (p.Ile474fs)
|
rs1369440486
|
|
NM_001134831.2(AHI1):c.1500C>G (p.Tyr500Ter)
|
|
|
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)
|
rs371637724
|
|
NM_001134831.2(AHI1):c.1526T>A (p.Leu509Ter)
|
|
|
NM_001134831.2(AHI1):c.1553G>A (p.Trp518Ter)
|
|
|
NM_001134831.2(AHI1):c.1574_1588del (p.His525_Thr529del)
|
|
|
NM_001134831.2(AHI1):c.1580C>T (p.Pro527Leu)
|
|
|
NM_001134831.2(AHI1):c.1583C>A (p.Ser528Ter)
|
rs2128058828
|
|
NM_001134831.2(AHI1):c.1614del (p.Val539fs)
|
rs863225141
|
|
NM_001134831.2(AHI1):c.1623del (p.Cys542fs)
|
|
|
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC
|
rs863225148
|
|
NM_001134831.2(AHI1):c.1660C>T (p.Gln554Ter)
|
|
|
NM_001134831.2(AHI1):c.166_167del (p.Met56fs)
|
rs2128100863
|
|
NM_001134831.2(AHI1):c.1677dup (p.Pro560fs)
|
rs1554350503
|
|
NM_001134831.2(AHI1):c.1777C>T (p.Gln593Ter)
|
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter)
|
rs781198326
|
|
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs)
|
rs1163874095
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
NM_001134831.2(AHI1):c.1889del (p.Ser630fs)
|
rs1786487832
|
|
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs)
|
rs863225132
|
|
NM_001134831.2(AHI1):c.1900dup (p.Tyr634fs)
|
rs2128046176
|
|
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter)
|
rs764412921
|
|
NM_001134831.2(AHI1):c.195_202del (p.Asp65fs)
|
|
|
NM_001134831.2(AHI1):c.1983del (p.Trp662fs)
|
rs1459452503
|
|
NM_001134831.2(AHI1):c.2010del (p.Thr671fs)
|
|
|
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile)
|
rs772989270
|
|
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn)
|
rs863225145
|
|
NM_001134831.2(AHI1):c.2036+1G>T
|
rs776093293
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
NM_001134831.2(AHI1):c.2042G>A (p.Trp681Ter)
|
|
|
NM_001134831.2(AHI1):c.2057_2060del (p.Asn686fs)
|
|
|
NM_001134831.2(AHI1):c.2072del (p.Phe691fs)
|
|
|
NM_001134831.2(AHI1):c.2081T>G (p.Leu694Ter)
|
|
|
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs)
|
rs863225136
|
|
NM_001134831.2(AHI1):c.2106G>A (p.Thr702=)
|
rs1276908141
|
|
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly)
|
rs863225134
|
|
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)
|
rs863225144
|
|
NM_001134831.2(AHI1):c.2186_2190del (p.Met729fs)
|
|
|
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs)
|
rs863225140
|
|
NM_001134831.2(AHI1):c.2233del (p.Ser745fs)
|
rs1784890440
|
|
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter)
|
rs766069291
|
|
NM_001134831.2(AHI1):c.2250_2251del (p.Cys751fs)
|
rs1784887448
|
|
NM_001134831.2(AHI1):c.2266+1G>A
|
|
|
NM_001134831.2(AHI1):c.2282C>G (p.Ser761Ter)
|
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
|
|
|
NM_001134831.2(AHI1):c.2295del (p.Gly766_Val767insTer)
|
|
|
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu)
|
rs863225139
|
|
NM_001134831.2(AHI1):c.2315_2318del (p.Asn772fs)
|
rs1784617227
|
|
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs)
|
rs387906270
|
|
NM_001134831.2(AHI1):c.2369_2372del (p.Asn790fs)
|
rs1562753388
|
|
NM_001134831.2(AHI1):c.2383_2386del (p.Glu795fs)
|
|
|
NM_001134831.2(AHI1):c.2388dup (p.Glu797Ter)
|
|
|
NM_001134831.2(AHI1):c.2492+1G>A
|
rs187245292
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
NM_001134831.2(AHI1):c.2495del (p.Ile831_Leu832insTer)
|
rs1410559569
|
|
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs)
|
rs587783014
|
|
NM_001134831.2(AHI1):c.2623+1G>T
|
rs751823180
|
|
NM_001134831.2(AHI1):c.2623+2T>A
|
rs2128009190
|
|
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
NM_001134831.2(AHI1):c.2684ATC[1] (p.His896del)
|
|
|
NM_001134831.2(AHI1):c.2703_2707dup (p.Ala903fs)
|
|
|
NM_001134831.2(AHI1):c.2742del (p.Leu915fs)
|
rs1583179845
|
|
NM_001134831.2(AHI1):c.2748T>G (p.Tyr916Ter)
|
|
|
NM_001134831.2(AHI1):c.2773C>T (p.Gln925Ter)
|
|
|
NM_001134831.2(AHI1):c.2884C>T (p.Gln962Ter)
|
|
|
NM_001134831.2(AHI1):c.2912_2919dup (p.Thr974fs)
|
rs1781571282
|
|
NM_001134831.2(AHI1):c.2929C>T (p.Gln977Ter)
|
|
|
NM_001134831.2(AHI1):c.2970dup (p.Arg991fs)
|
rs1780545912
|
|
NM_001134831.2(AHI1):c.3055_3056del (p.Ser1019fs)
|
|
|
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)
|
rs1463748841
|
|
NM_001134831.2(AHI1):c.3065dup (p.Thr1023fs)
|
|
|
NM_001134831.2(AHI1):c.307_308insTAAATTGAGGA (p.Asn103delinsIleAsnTer)
|
|
|
NM_001134831.2(AHI1):c.3088C>T (p.Gln1030Ter)
|
|
|
NM_001134831.2(AHI1):c.308del (p.Asn103fs)
|
|
|
NM_001134831.2(AHI1):c.3138_3141dup (p.His1048Ter)
|
|
|
NM_001134831.2(AHI1):c.313_314del (p.Gln105fs)
|
|
|
NM_001134831.2(AHI1):c.3171_3174del (p.Ala1058fs)
|
|
|
NM_001134831.2(AHI1):c.3180T>A (p.Tyr1060Ter)
|
|
|
NM_001134831.2(AHI1):c.3200C>G (p.Ser1067Ter)
|
rs2128384779
|
|
NM_001134831.2(AHI1):c.3229_3235dup (p.Arg1079fs)
|
rs1787150198
|
|
NM_001134831.2(AHI1):c.3245del (p.Phe1082fs)
|
|
|
NM_001134831.2(AHI1):c.3289C>T (p.Gln1097Ter)
|
|
|
NM_001134831.2(AHI1):c.329dup (p.Asn110fs)
|
|
|
NM_001134831.2(AHI1):c.3303dup (p.Pro1102fs)
|
rs2128384496
|
|
NM_001134831.2(AHI1):c.3313del (p.His1105fs)
|
|
|
NM_001134831.2(AHI1):c.3365dup (p.Ser1123fs)
|
|
|
NM_001134831.2(AHI1):c.3421C>T (p.Gln1141Ter)
|
|
|
NM_001134831.2(AHI1):c.3431C>G (p.Ser1144Ter)
|
|
|
NM_001134831.2(AHI1):c.3438_3439insC (p.Lys1147fs)
|
|
|
NM_001134831.2(AHI1):c.344_384dup (p.Val129delinsLeuValTer)
|
|
|
NM_001134831.2(AHI1):c.3474del (p.Glu1158fs)
|
|
|
NM_001134831.2(AHI1):c.3501del (p.Glu1168fs)
|
|
|
NM_001134831.2(AHI1):c.392dup (p.Thr132fs)
|
|
|
NM_001134831.2(AHI1):c.404del (p.Gln135fs)
|
|
|
NM_001134831.2(AHI1):c.430del (p.Glu144fs)
|
rs2128098409
|
|
NM_001134831.2(AHI1):c.478A>T (p.Lys160Ter)
|
rs1257185309
|
|
NM_001134831.2(AHI1):c.523G>T (p.Glu175Ter)
|
|
|
NM_001134831.2(AHI1):c.630_633del (p.Lys210fs)
|
rs776569081
|
|
NM_001134831.2(AHI1):c.703dup (p.Arg235fs)
|
rs1336317768
|
|
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs)
|
rs780910490
|
|
NM_001134831.2(AHI1):c.836del (p.Asp279fs)
|
rs1554214237
|
|
NM_001134831.2(AHI1):c.856G>T (p.Glu286Ter)
|
|
|
NM_001134831.2(AHI1):c.894del (p.Lys298fs)
|
|
|
NM_001134831.2(AHI1):c.900del (p.Lys300fs)
|
rs2128092639
|
|
NM_001134831.2(AHI1):c.910del (p.Thr304fs)
|
rs753874898
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|
NM_001134831.2(AHI1):c.914_917del (p.Lys305fs)
|
|
|
NM_001134831.2(AHI1):c.917dup (p.Lys307fs)
|
|
|
NM_001134831.2(AHI1):c.96del (p.Lys32fs)
|
|
|
NM_001134831.2(AHI1):c.96dup (p.Leu33fs)
|
rs747322175
|
|