NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu)
|
rs373946181
|
0.00016
|
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)
|
rs201943194
|
0.00008
|
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter)
|
rs368260932
|
0.00008
|
NM_001277115.2(DNAH11):c.9560_9563dup (p.Ala3189fs)
|
rs747442861
|
0.00007
|
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg)
|
rs117830543
|
0.00006
|
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)
|
rs200693106
|
0.00006
|
NM_001277115.2(DNAH11):c.3426-1G>A
|
rs774855011
|
0.00005
|
NM_001277115.2(DNAH11):c.10036C>T (p.Arg3346Ter)
|
rs773851007
|
0.00004
|
NM_001277115.2(DNAH11):c.13288G>A (p.Gly4430Arg)
|
rs1275074212
|
0.00004
|
NM_001277115.2(DNAH11):c.3765+1G>A
|
rs766759197
|
0.00004
|
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter)
|
rs72657316
|
0.00004
|
NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter)
|
rs121908855
|
0.00003
|
NM_001277115.2(DNAH11):c.4438C>T (p.Arg1480Ter)
|
rs72657321
|
0.00003
|
NM_001277115.2(DNAH11):c.5368G>T (p.Glu1790Ter)
|
rs1164659091
|
0.00003
|
NM_001277115.2(DNAH11):c.6527C>T (p.Ala2176Val)
|
rs770279400
|
0.00003
|
NM_001277115.2(DNAH11):c.983-1G>T
|
rs777285019
|
0.00003
|
NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg)
|
rs764509824
|
0.00002
|
NM_001277115.2(DNAH11):c.12697C>T (p.Gln4233Ter)
|
rs72658823
|
0.00002
|
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter)
|
rs767595964
|
0.00002
|
NM_001277115.2(DNAH11):c.10324C>T (p.Gln3442Ter)
|
rs72657393
|
0.00001
|
NM_001277115.2(DNAH11):c.10691+2T>C
|
rs886039341
|
0.00001
|
NM_001277115.2(DNAH11):c.10789C>T (p.Gln3597Ter)
|
rs1060503063
|
0.00001
|
NM_001277115.2(DNAH11):c.11521C>T (p.Arg3841Ter)
|
rs988794959
|
0.00001
|
NM_001277115.2(DNAH11):c.11533C>T (p.Arg3845Ter)
|
rs1309805676
|
0.00001
|
NM_001277115.2(DNAH11):c.13171C>T (p.Gln4391Ter)
|
rs761855200
|
0.00001
|
NM_001277115.2(DNAH11):c.13183C>T (p.Arg4395Ter)
|
rs757784023
|
0.00001
|
NM_001277115.2(DNAH11):c.2406G>A (p.Trp802Ter)
|
rs1310930757
|
0.00001
|
NM_001277115.2(DNAH11):c.2569C>T (p.Arg857Ter)
|
rs72655998
|
0.00001
|
NM_001277115.2(DNAH11):c.2671A>G (p.Asn891Asp)
|
rs1354416117
|
0.00001
|
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter)
|
rs374107286
|
0.00001
|
NM_001277115.2(DNAH11):c.4621C>T (p.Arg1541Ter)
|
rs757013900
|
0.00001
|
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys)
|
rs727502967
|
0.00001
|
NM_001277115.2(DNAH11):c.5047G>T (p.Glu1683Ter)
|
rs767308949
|
0.00001
|
NM_001277115.2(DNAH11):c.5218C>T (p.Gln1740Ter)
|
rs958055112
|
0.00001
|
NM_001277115.2(DNAH11):c.5593C>T (p.Arg1865Ter)
|
rs767101212
|
0.00001
|
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu)
|
rs1190944498
|
0.00001
|
NM_001277115.2(DNAH11):c.5778+1G>A
|
rs72657333
|
0.00001
|
NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter)
|
rs373844629
|
0.00001
|
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter)
|
rs778698443
|
0.00001
|
NM_001277115.2(DNAH11):c.6983+1G>A
|
rs771953930
|
0.00001
|
NM_001277115.2(DNAH11):c.7266+1G>A
|
rs72657354
|
0.00001
|
NM_001277115.2(DNAH11):c.8076_8077del (p.Met2693fs)
|
rs1785931346
|
0.00001
|
NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter)
|
rs797045085
|
0.00001
|
NC_000007.13:g.(?_21784036)_(21790002_?)del
|
|
|
NC_000007.14:g.(?_21655812)_(21656001_?)del
|
|
|
NC_000007.14:g.(?_21681526)_(21745083_?)dup
|
|
|
NC_000007.14:g.(?_21683764)_(21683964_?)del
|
|
|
NC_000007.14:g.(?_21698055)_(21765609_?)del
|
|
|
NC_000007.14:g.(?_21735620)_(21750384_?)del
|
|
|
NC_000007.14:g.(?_21892405)_(21895019_?)del
|
|
|
NC_000007.14:g.21894887del
|
rs2128049034
|
|
NM_001277115.2(DNAH11):c.-159_346delinsGGCGCCCCG (p.Met1fs)
|
|
|
NM_001277115.2(DNAH11):c.10026+1G>A
|
|
|
NM_001277115.2(DNAH11):c.10048A>T (p.Arg3350Ter)
|
rs1554282583
|
|
NM_001277115.2(DNAH11):c.10054dup (p.Thr3352fs)
|
|
|
NM_001277115.2(DNAH11):c.10073del (p.Ala3358fs)
|
|
|
NM_001277115.2(DNAH11):c.10153G>T (p.Glu3385Ter)
|
rs1208384558
|
|
NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs)
|
rs886042735
|
|
NM_001277115.2(DNAH11):c.10259dup (p.Tyr3420Ter)
|
|
|
NM_001277115.2(DNAH11):c.10260C>A (p.Tyr3420Ter)
|
|
|
NM_001277115.2(DNAH11):c.10260C>G (p.Tyr3420Ter)
|
rs1789346276
|
|
NM_001277115.2(DNAH11):c.10265del (p.Gly3422fs)
|
|
|
NM_001277115.2(DNAH11):c.1030dup (p.Arg344fs)
|
|
|
NM_001277115.2(DNAH11):c.10311G>A (p.Trp3437Ter)
|
|
|
NM_001277115.2(DNAH11):c.10333-1G>A
|
|
|
NM_001277115.2(DNAH11):c.10333-1G>C
|
|
|
NM_001277115.2(DNAH11):c.10476G>A (p.Trp3492Ter)
|
|
|
NM_001277115.2(DNAH11):c.10512dup (p.Trp3505fs)
|
|
|
NM_001277115.2(DNAH11):c.10531G>T (p.Gly3511Ter)
|
|
|
NM_001277115.2(DNAH11):c.10616T>G (p.Leu3539Ter)
|
|
|
NM_001277115.2(DNAH11):c.1066_1067del (p.Gln356fs)
|
|
|
NM_001277115.2(DNAH11):c.10680del (p.Gly3563fs)
|
|
|
NM_001277115.2(DNAH11):c.10691+1G>T
|
|
|
NM_001277115.2(DNAH11):c.10805_10806del (p.Leu3602fs)
|
|
|
NM_001277115.2(DNAH11):c.10841_10844dup (p.Gln3615fs)
|
|
|
NM_001277115.2(DNAH11):c.10883del (p.Leu3628fs)
|
rs2128016880
|
|
NM_001277115.2(DNAH11):c.10del (p.Gln4fs)
|
|
|
NM_001277115.2(DNAH11):c.11051_11052dup (p.Glu3685Ter)
|
|
|
NM_001277115.2(DNAH11):c.11053G>T (p.Glu3685Ter)
|
|
|
NM_001277115.2(DNAH11):c.11104C>T (p.Arg3702Ter)
|
|
|
NM_001277115.2(DNAH11):c.11112T>A (p.Cys3704Ter)
|
|
|
NM_001277115.2(DNAH11):c.11176_11177del (p.Asn3726fs)
|
|
|
NM_001277115.2(DNAH11):c.11188C>T (p.Gln3730Ter)
|
rs2128025477
|
|
NM_001277115.2(DNAH11):c.11203-1G>C
|
rs1783074775
|
|
NM_001277115.2(DNAH11):c.11203-2A>G
|
|
|
NM_001277115.2(DNAH11):c.11288_11289dup (p.Ile3764fs)
|
rs1562590250
|
|
NM_001277115.2(DNAH11):c.11373+1G>A
|
rs1175443221
|
|
NM_001277115.2(DNAH11):c.11381T>A (p.Leu3794Ter)
|
rs878854435
|
|
NM_001277115.2(DNAH11):c.11396_11399del (p.Ile3799fs)
|
rs1245232070
|
|
NM_001277115.2(DNAH11):c.11425C>T (p.Arg3809Ter)
|
|
|
NM_001277115.2(DNAH11):c.11483G>T (p.Trp3828Leu)
|
rs1783201954
|
|
NM_001277115.2(DNAH11):c.11496+1G>T
|
|
|
NM_001277115.2(DNAH11):c.11570G>A (p.Trp3857Ter)
|
|
|
NM_001277115.2(DNAH11):c.11749_11752del (p.Val3917fs)
|
|
|
NM_001277115.2(DNAH11):c.11761G>T (p.Glu3921Ter)
|
|
|
NM_001277115.2(DNAH11):c.11839+1G>A
|
|
|
NM_001277115.2(DNAH11):c.11929G>T (p.Glu3977Ter)
|
|
|
NM_001277115.2(DNAH11):c.11968-1G>C
|
rs1783569129
|
|
NM_001277115.2(DNAH11):c.12088G>T (p.Glu4030Ter)
|
|
|
NM_001277115.2(DNAH11):c.12196-2A>G
|
rs1554291973
|
|
NM_001277115.2(DNAH11):c.12211dup (p.Cys4071fs)
|
|
|
NM_001277115.2(DNAH11):c.12213C>A (p.Cys4071Ter)
|
|
|
NM_001277115.2(DNAH11):c.12232A>T (p.Lys4078Ter)
|
rs1583806864
|
|
NM_001277115.2(DNAH11):c.12310C>T (p.Arg4104Ter)
|
rs775230957
|
|
NM_001277115.2(DNAH11):c.12466del (p.Leu4156fs)
|
rs1554292398
|
|
NM_001277115.2(DNAH11):c.1247C>A (p.Ser416Ter)
|
|
|
NM_001277115.2(DNAH11):c.12724G>T (p.Glu4242Ter)
|
rs1408664815
|
|
NM_001277115.2(DNAH11):c.12745del (p.Glu4249fs)
|
|
|
NM_001277115.2(DNAH11):c.12824dup (p.Asn4275fs)
|
|
|
NM_001277115.2(DNAH11):c.12871_12872del (p.Arg4291fs)
|
|
|
NM_001277115.2(DNAH11):c.12934-1G>T
|
rs1554293484
|
|
NM_001277115.2(DNAH11):c.12944del (p.Ala4315fs)
|
|
|
NM_001277115.2(DNAH11):c.12970C>T (p.Gln4324Ter)
|
|
|
NM_001277115.2(DNAH11):c.13008G>A (p.Trp4336Ter)
|
rs1162823375
|
|
NM_001277115.2(DNAH11):c.13096C>T (p.Gln4366Ter)
|
rs748084362
|
|
NM_001277115.2(DNAH11):c.130G>T (p.Glu44Ter)
|
|
|
NM_001277115.2(DNAH11):c.1311T>A (p.Tyr437Ter)
|
rs559143773
|
|
NM_001277115.2(DNAH11):c.13165_13168dup (p.Met4390fs)
|
rs766922403
|
|
NM_001277115.2(DNAH11):c.1320del (p.Lys440fs)
|
rs1562668233
|
|
NM_001277115.2(DNAH11):c.1320dup (p.Leu441fs)
|
|
|
NM_001277115.2(DNAH11):c.13239_13240insT (p.Thr4414fs)
|
|
|
NM_001277115.2(DNAH11):c.13240dup (p.Thr4414fs)
|
rs759332741
|
|
NM_001277115.2(DNAH11):c.13242_13245del (p.Glu4416fs)
|
rs1278777268
|
|
NM_001277115.2(DNAH11):c.13266_13272dup (p.Gly4425fs)
|
rs2128052407
|
|
NM_001277115.2(DNAH11):c.13277_13298dup (p.Met4433fs)
|
|
|
NM_001277115.2(DNAH11):c.13279_13286dup (p.Gly4430fs)
|
|
|
NM_001277115.2(DNAH11):c.13281C>A (p.Tyr4427Ter)
|
|
|
NM_001277115.2(DNAH11):c.13303+1G>T
|
|
|
NM_001277115.2(DNAH11):c.1358G>A (p.Trp453Ter)
|
rs749372718
|
|
NM_001277115.2(DNAH11):c.1367del (p.Gln456fs)
|
|
|
NM_001277115.2(DNAH11):c.1475_1593+946del
|
|
|
NM_001277115.2(DNAH11):c.1482dup (p.Thr495fs)
|
|
|
NM_001277115.2(DNAH11):c.1486A>T (p.Lys496Ter)
|
rs769637393
|
|
NM_001277115.2(DNAH11):c.1544_1545del (p.Leu514_Cys515insTer)
|
|
|
NM_001277115.2(DNAH11):c.1558C>T (p.Gln520Ter)
|
|
|
NM_001277115.2(DNAH11):c.1593+1G>A
|
rs1554312483
|
|
NM_001277115.2(DNAH11):c.1633_1634del (p.Leu545fs)
|
|
|
NM_001277115.2(DNAH11):c.1710+1G>C
|
rs1784326790
|
|
NM_001277115.2(DNAH11):c.1736_1764del (p.Leu579fs)
|
|
|
NM_001277115.2(DNAH11):c.1785dup (p.Val596fs)
|
|
|
NM_001277115.2(DNAH11):c.1804G>T (p.Glu602Ter)
|
|
|
NM_001277115.2(DNAH11):c.1846C>T (p.Gln616Ter)
|
|
|
NM_001277115.2(DNAH11):c.1857T>A (p.Cys619Ter)
|
|
|
NM_001277115.2(DNAH11):c.1857_1878dup (p.Asn627delinsTrpSerCysSerSerTer)
|
|
|
NM_001277115.2(DNAH11):c.1886del (p.Pro629fs)
|
|
|
NM_001277115.2(DNAH11):c.1915C>T (p.Gln639Ter)
|
|
|
NM_001277115.2(DNAH11):c.1930C>T (p.Arg644Ter)
|
|
|
NM_001277115.2(DNAH11):c.2000del (p.Ala666_Leu667insTer)
|
|
|
NM_001277115.2(DNAH11):c.2046dup (p.Glu683Ter)
|
|
|
NM_001277115.2(DNAH11):c.2069G>A (p.Trp690Ter)
|
|
|
NM_001277115.2(DNAH11):c.2199T>A (p.Tyr733Ter)
|
|
|
NM_001277115.2(DNAH11):c.2200_2240dup (p.Leu747delinsPhePheTer)
|
rs1583508118
|
|
NM_001277115.2(DNAH11):c.2234C>G (p.Ser745Ter)
|
|
|
NM_001277115.2(DNAH11):c.2320A>T (p.Lys774Ter)
|
|
|
NM_001277115.2(DNAH11):c.2321_2324del (p.Lys774fs)
|
|
|
NM_001277115.2(DNAH11):c.2346C>G (p.Tyr782Ter)
|
|
|
NM_001277115.2(DNAH11):c.2491C>T (p.Gln831Ter)
|
|
|
NM_001277115.2(DNAH11):c.2559del (p.Glu854fs)
|
rs1562684798
|
|
NM_001277115.2(DNAH11):c.25G>T (p.Glu9Ter)
|
|
|
NM_001277115.2(DNAH11):c.2606dup (p.Leu869fs)
|
|
|
NM_001277115.2(DNAH11):c.2665G>T (p.Glu889Ter)
|
|
|
NM_001277115.2(DNAH11):c.2668G>T (p.Glu890Ter)
|
|
|
NM_001277115.2(DNAH11):c.2674del (p.Arg892fs)
|
|
|
NM_001277115.2(DNAH11):c.2740del (p.Ile914fs)
|
|
|
NM_001277115.2(DNAH11):c.2760dup (p.Gln921fs)
|
|
|
NM_001277115.2(DNAH11):c.2839C>T (p.Gln947Ter)
|
|
|
NM_001277115.2(DNAH11):c.2923G>T (p.Glu975Ter)
|
rs776980207
|
|
NM_001277115.2(DNAH11):c.3431_3434del (p.Asn1144fs)
|
|
|
NM_001277115.2(DNAH11):c.346C>T (p.Gln116Ter)
|
|
|
NM_001277115.2(DNAH11):c.3569_3570del (p.Leu1189_Phe1190insTer)
|
rs779520176
|
|
NM_001277115.2(DNAH11):c.3595del (p.Leu1199fs)
|
rs1479385947
|
|
NM_001277115.2(DNAH11):c.3744del (p.Lys1250fs)
|
|
|
NM_001277115.2(DNAH11):c.3772C>T (p.Gln1258Ter)
|
|
|
NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs)
|
rs749926976
|
|
NM_001277115.2(DNAH11):c.3853-2202_4096-506del
|
|
|
NM_001277115.2(DNAH11):c.3854del (p.Ala1285fs)
|
|
|
NM_001277115.2(DNAH11):c.3898_3906delinsG (p.Gln1300fs)
|
|
|
NM_001277115.2(DNAH11):c.3901G>T (p.Glu1301Ter)
|
rs72657308
|
|
NM_001277115.2(DNAH11):c.3910del (p.Arg1304fs)
|
|
|
NM_001277115.2(DNAH11):c.3939C>G (p.Tyr1313Ter)
|
|
|
NM_001277115.2(DNAH11):c.3952C>T (p.Gln1318Ter)
|
|
|
NM_001277115.2(DNAH11):c.4005T>A (p.Tyr1335Ter)
|
|
|
NM_001277115.2(DNAH11):c.4009C>T (p.Arg1337Ter)
|
|
|
NM_001277115.2(DNAH11):c.4044G>A (p.Trp1348Ter)
|
|
|
NM_001277115.2(DNAH11):c.4095+2C>A
|
rs532007878
|
|
NM_001277115.2(DNAH11):c.4231_4235del (p.His1411fs)
|
|
|
NM_001277115.2(DNAH11):c.4254+5G>C
|
rs72657312
|
|
NM_001277115.2(DNAH11):c.4273G>T (p.Glu1425Ter)
|
|
|
NM_001277115.2(DNAH11):c.4290del (p.Asp1431fs)
|
|
|
NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs)
|
rs761764078
|
|
NM_001277115.2(DNAH11):c.4395dup (p.Gln1466fs)
|
|
|
NM_001277115.2(DNAH11):c.4396C>T (p.Gln1466Ter)
|
|
|
NM_001277115.2(DNAH11):c.4425C>A (p.Tyr1475Ter)
|
|
|
NM_001277115.2(DNAH11):c.4471C>T (p.Gln1491Ter)
|
|
|
NM_001277115.2(DNAH11):c.4504C>T (p.Gln1502Ter)
|
|
|
NM_001277115.2(DNAH11):c.4509del (p.Leu1503fs)
|
|
|
NM_001277115.2(DNAH11):c.4552C>T (p.Gln1518Ter)
|
|
|
NM_001277115.2(DNAH11):c.4567C>T (p.Gln1523Ter)
|
rs1286036654
|
|
NM_001277115.2(DNAH11):c.4658C>G (p.Ser1553Ter)
|
|
|
NM_001277115.2(DNAH11):c.4726-1G>A
|
|
|
NM_001277115.2(DNAH11):c.4726-2A>G
|
|
|
NM_001277115.2(DNAH11):c.4752dup (p.Glu1585fs)
|
rs2128459908
|
|
NM_001277115.2(DNAH11):c.4791T>A (p.Tyr1597Ter)
|
|
|
NM_001277115.2(DNAH11):c.4922C>G (p.Ser1641Ter)
|
|
|
NM_001277115.2(DNAH11):c.4933C>T (p.Gln1645Ter)
|
|
|
NM_001277115.2(DNAH11):c.4950_4951del (p.Cys1651fs)
|
rs1583567611
|
|
NM_001277115.2(DNAH11):c.4969_4970del (p.Phe1657fs)
|
|
|
NM_001277115.2(DNAH11):c.5005C>T (p.Gln1669Ter)
|
|
|
NM_001277115.2(DNAH11):c.5131C>T (p.Gln1711Ter)
|
|
|
NM_001277115.2(DNAH11):c.5199G>A (p.Trp1733Ter)
|
rs1782130455
|
|
NM_001277115.2(DNAH11):c.5228_5231del (p.Leu1743fs)
|
|
|
NM_001277115.2(DNAH11):c.5247G>A (p.Trp1749Ter)
|
rs2128465955
|
|
NM_001277115.2(DNAH11):c.531del (p.His177fs)
|
|
|
NM_001277115.2(DNAH11):c.5349_5352del (p.Ile1784fs)
|
|
|
NM_001277115.2(DNAH11):c.546T>A (p.Cys182Ter)
|
rs1554309352
|
|
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter)
|
|
|
NM_001277115.2(DNAH11):c.5558del (p.Phe1853fs)
|
|
|
NM_001277115.2(DNAH11):c.5613_5616del (p.Asp1873fs)
|
|
|
NM_001277115.2(DNAH11):c.5622-1G>T
|
rs2128473916
|
|
NM_001277115.2(DNAH11):c.5643dup (p.Ser1882fs)
|
|
|
NM_001277115.2(DNAH11):c.5699_5700del (p.Thr1900fs)
|
rs1783410926
|
|
NM_001277115.2(DNAH11):c.5737_5740dup (p.Val1914fs)
|
|
|
NM_001277115.2(DNAH11):c.5815G>A (p.Gly1939Arg)
|
|
|
NM_001277115.2(DNAH11):c.5822G>A (p.Trp1941Ter)
|
|
|
NM_001277115.2(DNAH11):c.5845C>T (p.Arg1949Ter)
|
rs372143147
|
|
NM_001277115.2(DNAH11):c.5845del (p.Arg1949fs)
|
rs2128474023
|
|
NM_001277115.2(DNAH11):c.5885_5922del (p.Val1962fs)
|
rs1554269295
|
|
NM_001277115.2(DNAH11):c.589A>T (p.Lys197Ter)
|
|
|
NM_001277115.2(DNAH11):c.591_592del (p.Lys198fs)
|
|
|
NM_001277115.2(DNAH11):c.5924+1G>A
|
|
|
NM_001277115.2(DNAH11):c.5924+1G>C
|
rs886039340
|
|
NM_001277115.2(DNAH11):c.5924+2T>A
|
rs2128474056
|
|
NM_001277115.2(DNAH11):c.5963del (p.Pro1987_Ser1988insTer)
|
|
|
NM_001277115.2(DNAH11):c.600T>A (p.Tyr200Ter)
|
|
|
NM_001277115.2(DNAH11):c.6265G>T (p.Glu2089Ter)
|
rs1275718084
|
|
NM_001277115.2(DNAH11):c.6298_6299dup (p.Asn2101fs)
|
rs2128479064
|
|
NM_001277115.2(DNAH11):c.6406C>T (p.Gln2136Ter)
|
|
|
NM_001277115.2(DNAH11):c.6452del (p.Glu2151fs)
|
rs1784195520
|
|
NM_001277115.2(DNAH11):c.6506C>A (p.Ser2169Ter)
|
rs373946181
|
|
NM_001277115.2(DNAH11):c.6530G>A (p.Gly2177Asp)
|
|
|
NM_001277115.2(DNAH11):c.6642del (p.Phe2214fs)
|
|
|
NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter)
|
rs773498002
|
|
NM_001277115.2(DNAH11):c.6664del (p.Arg2222fs)
|
|
|
NM_001277115.2(DNAH11):c.6693C>G (p.Tyr2231Ter)
|
|
|
NM_001277115.2(DNAH11):c.6733C>T (p.Gln2245Ter)
|
|
|
NM_001277115.2(DNAH11):c.6834+1G>T
|
|
|
NM_001277115.2(DNAH11):c.685G>T (p.Glu229Ter)
|
|
|
NM_001277115.2(DNAH11):c.6977G>A (p.Trp2326Ter)
|
|
|
NM_001277115.2(DNAH11):c.7027A>T (p.Lys2343Ter)
|
|
|
NM_001277115.2(DNAH11):c.7101_7102insTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACC (p.Ile2368delinsCysGlyGlyValGlyGlyGlyGlyArgAspSerIleGlyArgTyrThrTer)
|
|
|
NM_001277115.2(DNAH11):c.7140_7141del (p.Val2382fs)
|
rs878854445
|
|
NM_001277115.2(DNAH11):c.7264C>T (p.Gln2422Ter)
|
|
|
NM_001277115.2(DNAH11):c.7266+1G>T
|
|
|
NM_001277115.2(DNAH11):c.7279C>T (p.Gln2427Ter)
|
rs202236144
|
|
NM_001277115.2(DNAH11):c.7299G>A (p.Trp2433Ter)
|
|
|
NM_001277115.2(DNAH11):c.7374del (p.Lys2459fs)
|
|
|
NM_001277115.2(DNAH11):c.7438C>T (p.Gln2480Ter)
|
|
|
NM_001277115.2(DNAH11):c.7441-1G>C
|
rs2128489042
|
|
NM_001277115.2(DNAH11):c.7493del (p.Leu2498fs)
|
|
|
NM_001277115.2(DNAH11):c.749G>A (p.Trp250Ter)
|
|
|
NM_001277115.2(DNAH11):c.7507G>T (p.Gly2503Ter)
|
|
|
NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Gly2503_Lys2504insTer)
|
rs797045086
|
|
NM_001277115.2(DNAH11):c.752C>G (p.Ser251Ter)
|
|
|
NM_001277115.2(DNAH11):c.7583_7584del (p.Leu2527_Ser2528insTer)
|
|
|
NM_001277115.2(DNAH11):c.7727A>G (p.Asp2576Gly)
|
|
|
NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu)
|
rs387907258
|
|
NM_001277115.2(DNAH11):c.7812G>A (p.Trp2604Ter)
|
|
|
NM_001277115.2(DNAH11):c.7826del (p.Lys2609fs)
|
|
|
NM_001277115.2(DNAH11):c.7833_7837dup (p.Lys2613fs)
|
|
|
NM_001277115.2(DNAH11):c.7854_7857dup (p.Tyr2620fs)
|
|
|
NM_001277115.2(DNAH11):c.785C>G (p.Ser262Ter)
|
rs1298746949
|
|
NM_001277115.2(DNAH11):c.7914G>C (p.Gln2638His)
|
|
|
NM_001277115.2(DNAH11):c.7915-1G>A
|
|
|
NM_001277115.2(DNAH11):c.793_794insCAGCT (p.Arg265fs)
|
|
|
NM_001277115.2(DNAH11):c.7961del (p.Leu2654fs)
|
|
|
NM_001277115.2(DNAH11):c.7978C>T (p.Gln2660Ter)
|
|
|
NM_001277115.2(DNAH11):c.7978_7984dup (p.Phe2662fs)
|
|
|
NM_001277115.2(DNAH11):c.7981del (p.Ile2661fs)
|
rs2128490901
|
|
NM_001277115.2(DNAH11):c.7999C>T (p.Gln2667Ter)
|
|
|
NM_001277115.2(DNAH11):c.8132_8135del (p.Arg2711fs)
|
rs1562521048
|
|
NM_001277115.2(DNAH11):c.8141C>G (p.Ser2714Ter)
|
rs1237605731
|
|
NM_001277115.2(DNAH11):c.8144del (p.Asn2715fs)
|
rs1785934565
|
|
NM_001277115.2(DNAH11):c.8221G>T (p.Glu2741Ter)
|
|
|
NM_001277115.2(DNAH11):c.8379del (p.Lys2794fs)
|
|
|
NM_001277115.2(DNAH11):c.8407_8416del (p.Asp2803fs)
|
|
|
NM_001277115.2(DNAH11):c.8412G>A (p.Trp2804Ter)
|
|
|
NM_001277115.2(DNAH11):c.8444T>G (p.Leu2815Ter)
|
rs1293819249
|
|
NM_001277115.2(DNAH11):c.8578G>A (p.Gly2860Ser)
|
|
|
NM_001277115.2(DNAH11):c.860dup (p.Asn287fs)
|
rs781372148
|
|
NM_001277115.2(DNAH11):c.8610C>G (p.Tyr2870Ter)
|
rs878854446
|
|
NM_001277115.2(DNAH11):c.8709del (p.Lys2904fs)
|
rs2128492914
|
|
NM_001277115.2(DNAH11):c.8769_8785del (p.Val2924fs)
|
rs2128492930
|
|
NM_001277115.2(DNAH11):c.883-1G>A
|
|
|
NM_001277115.2(DNAH11):c.8904G>A (p.Trp2968Ter)
|
|
|
NM_001277115.2(DNAH11):c.8926C>T (p.Arg2976Ter)
|
|
|
NM_001277115.2(DNAH11):c.8932C>T (p.Gln2978Ter)
|
|
|
NM_001277115.2(DNAH11):c.895_896dup (p.Val300fs)
|
|
|
NM_001277115.2(DNAH11):c.9042G>A (p.Trp3014Ter)
|
|
|
NM_001277115.2(DNAH11):c.9113_9116del (p.Lys3038fs)
|
|
|
NM_001277115.2(DNAH11):c.9119_9120del (p.Ser3040fs)
|
|
|
NM_001277115.2(DNAH11):c.9181C>T (p.Gln3061Ter)
|
|
|
NM_001277115.2(DNAH11):c.9228del (p.Glu3076fs)
|
|
|
NM_001277115.2(DNAH11):c.9243del (p.Phe3081fs)
|
|
|
NM_001277115.2(DNAH11):c.9265C>T (p.Gln3089Ter)
|
|
|
NM_001277115.2(DNAH11):c.927_931del (p.Ser312fs)
|
|
|
NM_001277115.2(DNAH11):c.9288dup (p.Glu3097fs)
|
rs771781357
|
|
NM_001277115.2(DNAH11):c.9337-12_9398dup
|
|
|
NM_001277115.2(DNAH11):c.9366del (p.Gln3123fs)
|
|
|
NM_001277115.2(DNAH11):c.9430C>T (p.Gln3144Ter)
|
|
|
NM_001277115.2(DNAH11):c.9436G>T (p.Glu3146Ter)
|
|
|
NM_001277115.2(DNAH11):c.9436del (p.Glu3146fs)
|
|
|
NM_001277115.2(DNAH11):c.9454A>T (p.Lys3152Ter)
|
rs2127982555
|
|
NM_001277115.2(DNAH11):c.9478C>T (p.Arg3160Ter)
|
rs1787819788
|
|
NM_001277115.2(DNAH11):c.9511C>T (p.Gln3171Ter)
|
|
|
NM_001277115.2(DNAH11):c.9523G>T (p.Glu3175Ter)
|
rs1788086604
|
|
NM_001277115.2(DNAH11):c.9560_9561insAGTT (p.Ala3189fs)
|
|
|
NM_001277115.2(DNAH11):c.9581_9582del (p.Leu3194fs)
|
|
|
NM_001277115.2(DNAH11):c.966dup (p.Leu323fs)
|
|
|
NM_001277115.2(DNAH11):c.9671del (p.Val3224fs)
|
|
|
NM_001277115.2(DNAH11):c.9685C>T (p.Arg3229Trp)
|
rs886536075
|
|
NM_001277115.2(DNAH11):c.9734del (p.Met3245fs)
|
|
|
NM_001277115.2(DNAH11):c.9755dup (p.Leu3252fs)
|
|
|
NM_001277115.2(DNAH11):c.9808del (p.Val3270fs)
|
|
|
NM_001277115.2(DNAH11):c.9817del (p.Glu3273fs)
|
|
|
NM_001277115.2(DNAH11):c.9896G>C (p.Trp3299Ser)
|
rs758224118
|
|
NM_001277115.2(DNAH11):c.99_100del (p.Glu34fs)
|
|
|