NM_015662.3(IFT172):c.4745T>C (p.Ile1582Thr)
|
rs61742074
|
0.00712
|
NM_015662.3(IFT172):c.4755+9G>C
|
rs375261962
|
0.00135
|
NM_015662.3(IFT172):c.5161-20G>A
|
rs372154058
|
0.00076
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
NM_015662.3(IFT172):c.4933G>A (p.Val1645Ile)
|
rs149117098
|
0.00046
|
NM_015662.3(IFT172):c.4815+9G>A
|
rs199667794
|
0.00019
|
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)
|
rs143671920
|
0.00015
|
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys)
|
rs186020523
|
0.00013
|
NM_015662.3(IFT172):c.5069-3C>T
|
rs370108416
|
0.00012
|
NM_015662.3(IFT172):c.5161-12A>G
|
rs368863616
|
0.00012
|
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys)
|
rs373098915
|
0.00011
|
NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile)
|
rs571686284
|
0.00010
|
NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn)
|
rs542662514
|
0.00009
|
NM_015662.3(IFT172):c.4816-8T>C
|
rs371396353
|
0.00007
|
NM_015662.3(IFT172):c.4990C>T (p.Arg1664Trp)
|
rs139348179
|
0.00005
|
NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val)
|
rs757464563
|
0.00004
|
NM_015662.3(IFT172):c.4755+11del
|
rs775669156
|
0.00004
|
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile)
|
rs115716101
|
0.00004
|
NM_015662.3(IFT172):c.4816-6C>T
|
rs367782557
|
0.00004
|
NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala)
|
rs750991615
|
0.00004
|
NM_015662.3(IFT172):c.5000G>A (p.Arg1667His)
|
rs201017771
|
0.00004
|
NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)
|
rs560831644
|
0.00004
|
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)
|
rs149614625
|
0.00004
|
NM_015662.3(IFT172):c.4689A>G (p.Ser1563=)
|
rs370933808
|
0.00003
|
NM_015662.3(IFT172):c.4815+19C>T
|
rs371490518
|
0.00003
|
NM_015662.3(IFT172):c.4914G>A (p.Pro1638=)
|
rs374531022
|
0.00003
|
NM_015662.3(IFT172):c.4915-17C>T
|
rs1431263019
|
0.00003
|
NM_015662.3(IFT172):c.5005G>A (p.Ala1669Thr)
|
rs146575848
|
0.00003
|
NM_015662.3(IFT172):c.5045G>A (p.Arg1682Gln)
|
rs773691500
|
0.00003
|
NM_015662.3(IFT172):c.4793A>G (p.Asn1598Ser)
|
rs755477787
|
0.00002
|
NM_015662.3(IFT172):c.4813G>A (p.Asp1605Asn)
|
rs755717990
|
0.00002
|
NM_015662.3(IFT172):c.5024T>C (p.Val1675Ala)
|
rs774361785
|
0.00002
|
NM_015662.3(IFT172):c.5029G>T (p.Ala1677Ser)
|
rs766918099
|
0.00002
|
NM_015662.3(IFT172):c.5033G>A (p.Ser1678Asn)
|
rs972056548
|
0.00002
|
NM_015662.3(IFT172):c.5068G>C (p.Gly1690Arg)
|
rs200049734
|
0.00002
|
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)
|
rs777980611
|
0.00001
|
NM_015662.3(IFT172):c.4759G>A (p.Val1587Ile)
|
rs774941853
|
0.00001
|
NM_015662.3(IFT172):c.4775T>C (p.Met1592Thr)
|
rs773569919
|
0.00001
|
NM_015662.3(IFT172):c.4847A>G (p.Asp1616Gly)
|
rs754517347
|
0.00001
|
NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile)
|
rs762958757
|
0.00001
|
NM_015662.3(IFT172):c.4878C>T (p.Pro1626=)
|
rs773180868
|
0.00001
|
NM_015662.3(IFT172):c.4893C>A (p.Leu1631=)
|
rs1237678953
|
0.00001
|
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)
|
rs201840472
|
0.00001
|
NM_015662.3(IFT172):c.4921G>A (p.Glu1641Lys)
|
rs370504937
|
0.00001
|
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln)
|
rs549415233
|
0.00001
|
NM_015662.3(IFT172):c.4975G>C (p.Glu1659Gln)
|
rs1488810130
|
0.00001
|
NM_015662.3(IFT172):c.4981G>A (p.Val1661Ile)
|
rs779670290
|
0.00001
|
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln)
|
rs749884570
|
0.00001
|
NM_015662.3(IFT172):c.4997A>G (p.Glu1666Gly)
|
rs1664968356
|
0.00001
|
NM_015662.3(IFT172):c.4999C>T (p.Arg1667Cys)
|
rs757212554
|
0.00001
|
NM_015662.3(IFT172):c.5010C>T (p.Tyr1670=)
|
rs1459018703
|
0.00001
|
NM_015662.3(IFT172):c.5050C>T (p.Leu1684=)
|
rs1350772419
|
0.00001
|
NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser)
|
rs775285304
|
0.00001
|
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe)
|
rs917873749
|
0.00001
|
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys)
|
rs868748622
|
0.00001
|
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)
|
rs146309780
|
0.00001
|
NM_015662.3(IFT172):c.5160+5G>A
|
rs1664926036
|
0.00001
|
NM_015662.3(IFT172):c.5170A>C (p.Ser1724Arg)
|
rs148800421
|
0.00001
|
NM_015662.3(IFT172):c.5182C>A (p.Gln1728Lys)
|
rs753075654
|
0.00001
|
NM_015662.3(IFT172):c.5188G>A (p.Val1730Met)
|
rs985755052
|
0.00001
|
NC_000002.11:g.(?_27667299)_(27677547_?)del
|
|
|
NC_000002.11:g.(?_27667299)_(27677547_?)dup
|
|
|
NC_000002.12:g.27444516_27444526del
|
|
|
NM_015662.3(IFT172):c.4660-5C>T
|
|
|
NM_015662.3(IFT172):c.4668G>T (p.Val1556=)
|
|
|
NM_015662.3(IFT172):c.4676G>A (p.Arg1559Lys)
|
|
|
NM_015662.3(IFT172):c.4680_4683del (p.Ser1561fs)
|
rs1665095139
|
|
NM_015662.3(IFT172):c.4692C>T (p.Leu1564=)
|
|
|
NM_015662.3(IFT172):c.4697G>A (p.Arg1566His)
|
|
|
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln)
|
rs786205855
|
|
NM_015662.3(IFT172):c.4703C>T (p.Thr1568Ile)
|
|
|
NM_015662.3(IFT172):c.4733A>G (p.Tyr1578Cys)
|
|
|
NM_015662.3(IFT172):c.4743C>G (p.Gly1581=)
|
|
|
NM_015662.3(IFT172):c.4749T>A (p.Ala1583=)
|
rs1160368460
|
|
NM_015662.3(IFT172):c.4755+20G>C
|
|
|
NM_015662.3(IFT172):c.4755+9G>A
|
rs375261962
|
|
NM_015662.3(IFT172):c.4756-13T>C
|
|
|
NM_015662.3(IFT172):c.4756-15T>A
|
|
|
NM_015662.3(IFT172):c.4756-17A>C
|
|
|
NM_015662.3(IFT172):c.4756-17A>T
|
rs753517897
|
|
NM_015662.3(IFT172):c.4756-20G>C
|
|
|
NM_015662.3(IFT172):c.4756-20G>T
|
|
|
NM_015662.3(IFT172):c.4756-5T>C
|
|
|
NM_015662.3(IFT172):c.4756-6C>G
|
|
|
NM_015662.3(IFT172):c.4756-9T>G
|
|
|
NM_015662.3(IFT172):c.4760T>C (p.Val1587Ala)
|
rs1483735124
|
|
NM_015662.3(IFT172):c.4773C>G (p.Asn1591Lys)
|
rs770759155
|
|
NM_015662.3(IFT172):c.4776G>A (p.Met1592Ile)
|
rs1042644207
|
|
NM_015662.3(IFT172):c.4780T>C (p.Phe1594Leu)
|
|
|
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs)
|
rs2148467517
|
|
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=)
|
rs369400518
|
|
NM_015662.3(IFT172):c.4812C>T (p.Thr1604=)
|
rs369400518
|
|
NM_015662.3(IFT172):c.4815+10G>A
|
rs759461544
|
|
NM_015662.3(IFT172):c.4815+10del
|
|
|
NM_015662.3(IFT172):c.4815+12A>G
|
rs774356097
|
|
NM_015662.3(IFT172):c.4815+16G>C
|
rs1296172696
|
|
NM_015662.3(IFT172):c.4815+1G>A
|
|
|
NM_015662.3(IFT172):c.4815+20C>G
|
|
|
NM_015662.3(IFT172):c.4815+2_4815+3del
|
rs2148467424
|
|
NM_015662.3(IFT172):c.4816-5T>C
|
|
|
NM_015662.3(IFT172):c.4816-9_4816-8del
|
rs777369595
|
|
NM_015662.3(IFT172):c.4842C>T (p.Gly1614=)
|
|
|
NM_015662.3(IFT172):c.4851C>T (p.His1617=)
|
|
|
NM_015662.3(IFT172):c.4853del (p.Ser1618fs)
|
rs2148467030
|
|
NM_015662.3(IFT172):c.4874T>G (p.Ile1625Ser)
|
|
|
NM_015662.3(IFT172):c.4876_4878dup (p.Pro1626_Phe1627insPro)
|
rs1437853998
|
|
NM_015662.3(IFT172):c.4891C>T (p.Leu1631Phe)
|
|
|
NM_015662.3(IFT172):c.4902G>A (p.Lys1634=)
|
|
|
NM_015662.3(IFT172):c.4912C>T (p.Pro1638Ser)
|
|
|
NM_015662.3(IFT172):c.4914+13G>T
|
rs867633277
|
|
NM_015662.3(IFT172):c.4914+1G>A
|
|
|
NM_015662.3(IFT172):c.4914+20A>G
|
|
|
NM_015662.3(IFT172):c.4914+7G>A
|
|
|
NM_015662.3(IFT172):c.4915-16T>A
|
|
|
NM_015662.3(IFT172):c.4915-5T>C
|
|
|
NM_015662.3(IFT172):c.4915-5T>G
|
|
|
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)
|
rs587777078
|
|
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del)
|
rs1664979213
|
|
NM_015662.3(IFT172):c.4936C>T (p.Arg1646Ter)
|
|
|
NM_015662.3(IFT172):c.4944G>C (p.Trp1648Cys)
|
rs1664978966
|
|
NM_015662.3(IFT172):c.4950T>G (p.Leu1650=)
|
rs1238278691
|
|
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)
|
rs529850410
|
|
NM_015662.3(IFT172):c.4966C>T (p.Gln1656Ter)
|
|
|
NM_015662.3(IFT172):c.4988C>T (p.Pro1663Leu)
|
rs1357445568
|
|
NM_015662.3(IFT172):c.4998G>T (p.Glu1666Asp)
|
rs2148465651
|
|
NM_015662.3(IFT172):c.5015C>G (p.Ala1672Gly)
|
rs2148465580
|
|
NM_015662.3(IFT172):c.5018C>T (p.Ser1673Phe)
|
|
|
NM_015662.3(IFT172):c.5036C>G (p.Thr1679Ser)
|
rs2148465499
|
|
NM_015662.3(IFT172):c.5041G>A (p.Val1681Ile)
|
rs763335302
|
|
NM_015662.3(IFT172):c.5044C>G (p.Arg1682Gly)
|
|
|
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)
|
rs1329856696
|
|
NM_015662.3(IFT172):c.5049C>G (p.Ala1683=)
|
rs1285975087
|
|
NM_015662.3(IFT172):c.5068+14C>T
|
|
|
NM_015662.3(IFT172):c.5068+3A>G
|
rs1664957671
|
|
NM_015662.3(IFT172):c.5069-20C>A
|
|
|
NM_015662.3(IFT172):c.5069-2A>G
|
rs2148464837
|
|
NM_015662.3(IFT172):c.5080C>G (p.Leu1694Val)
|
|
|
NM_015662.3(IFT172):c.5082G>C (p.Leu1694=)
|
|
|
NM_015662.3(IFT172):c.5093T>C (p.Ile1698Thr)
|
|
|
NM_015662.3(IFT172):c.5105G>A (p.Arg1702Gln)
|
|
|
NM_015662.3(IFT172):c.5106G>A (p.Arg1702=)
|
rs2148464737
|
|
NM_015662.3(IFT172):c.5116G>A (p.Ala1706Thr)
|
|
|
NM_015662.3(IFT172):c.5120C>T (p.Ala1707Val)
|
|
|
NM_015662.3(IFT172):c.5142A>G (p.Lys1714=)
|
|
|
NM_015662.3(IFT172):c.5154C>T (p.Ala1718=)
|
|
|
NM_015662.3(IFT172):c.5159A>G (p.Lys1720Arg)
|
rs755256585
|
|
NM_015662.3(IFT172):c.5160+12_5160+14del
|
|
|
NM_015662.3(IFT172):c.5160+13G>A
|
rs1185416215
|
|
NM_015662.3(IFT172):c.5160+14A>G
|
|
|
NM_015662.3(IFT172):c.5160+15C>T
|
|
|
NM_015662.3(IFT172):c.5160+16T>G
|
|
|
NM_015662.3(IFT172):c.5160+6A>G
|
rs2148464534
|
|
NM_015662.3(IFT172):c.5161-5C>G
|
|
|
NM_015662.3(IFT172):c.5161-5C>T
|
|
|
NM_015662.3(IFT172):c.5170A>G (p.Ser1724Gly)
|
rs148800421
|
|
NM_015662.3(IFT172):c.5204G>A (p.Ser1735Asn)
|
|
|
NM_015662.3(IFT172):c.5207_5209del (p.Gln1736_Trp1737delinsArg)
|
rs2148462684
|
|
NM_015662.3(IFT172):c.5212T>G (p.Cys1738Gly)
|
rs1664849569
|
|
NM_015662.3(IFT172):c.5228G>C (p.Ser1743Thr)
|
rs2148462622
|
|
NM_015662.3(IFT172):c.5245C>G (p.Gln1749Glu)
|
rs2148462534
|
|