NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)
|
rs140039128
|
0.00006
|
NM_014714.4(IFT140):c.2399+1G>T
|
rs376586707
|
0.00006
|
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)
|
rs1002670900
|
0.00006
|
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter)
|
rs1257804746
|
0.00004
|
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)
|
rs387907192
|
0.00004
|
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln)
|
rs373111085
|
0.00003
|
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)
|
rs767213195
|
0.00003
|
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter)
|
rs1206753537
|
0.00002
|
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu)
|
rs772757427
|
0.00002
|
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)
|
rs773372123
|
0.00002
|
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro)
|
rs1555491448
|
0.00001
|
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)
|
rs758052634
|
0.00001
|
NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter)
|
rs1424099914
|
0.00001
|
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter)
|
rs770731272
|
0.00001
|
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)
|
rs1432688490
|
0.00001
|
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter)
|
rs762817061
|
0.00001
|
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe)
|
rs1403669200
|
0.00001
|
NM_014714.4(IFT140):c.634+5G>A
|
rs1323647622
|
0.00001
|
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp)
|
rs1330112951
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:1557663-1561126)
|
|
|
GRCh37/hg19 16p13.3(chr16:1568217-1570809)
|
|
|
GRCh38/hg38 16p13.3(chr16:1515602-1521308)x3
|
|
|
NC_000016.10:g.1602592del
|
rs2035852852
|
|
NC_000016.9:g.(?_1568197)_(1570829_?)dup
|
|
|
NC_000016.9:g.(?_1574533)_(1576817_?)del
|
|
|
NC_000016.9:g.(?_1607916)_(1608155_?)del
|
|
|
NC_000016.9:g.(?_1618198)_(1618355_?)del
|
|
|
NC_000016.9:g.(?_1621388)_(1621555_?)del
|
|
|
NC_000016.9:g.(?_1633295)_(1637325_?)del
|
|
|
NC_000016.9:g.(?_256302)_(1657267_?)del
|
|
|
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
|
|
|
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter)
|
rs1166261279
|
|
NM_014714.4(IFT140):c.1073_1083del (p.Leu358fs)
|
|
|
NM_014714.4(IFT140):c.1114del (p.Gln372fs)
|
|
|
NM_014714.4(IFT140):c.1346del (p.Val449fs)
|
|
|
NM_014714.4(IFT140):c.1380del (p.Asn460fs)
|
rs431905522
|
|
NM_014714.4(IFT140):c.1525-1G>A
|
rs2034013225
|
|
NM_014714.4(IFT140):c.1525-2A>T
|
rs2141634877
|
|
NM_014714.4(IFT140):c.157_160del (p.Val53fs)
|
|
|
NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)
|
|
|
NM_014714.4(IFT140):c.169del (p.His57fs)
|
|
|
NM_014714.4(IFT140):c.1795dup (p.Ile599fs)
|
rs2141570994
|
|
NM_014714.4(IFT140):c.1992_2005dup (p.Thr669fs)
|
rs2141541431
|
|
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter)
|
rs2141540660
|
|
NM_014714.4(IFT140):c.217_218del (p.Arg73fs)
|
rs2035847573
|
|
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs)
|
rs1415763185
|
|
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter)
|
rs1555486629
|
|
NM_014714.4(IFT140):c.2292del (p.Leu765fs)
|
|
|
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter)
|
rs1471379682
|
|
NM_014714.4(IFT140):c.2411G>A (p.Trp804Ter)
|
|
|
NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter)
|
rs2141185231
|
|
NM_014714.4(IFT140):c.2483del (p.Gly828fs)
|
|
|
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter)
|
rs777399400
|
|
NM_014714.4(IFT140):c.2577+25G>A
|
rs1423102192
|
|
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter)
|
rs1567330535
|
|
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer)
|
rs2141179932
|
|
NM_014714.4(IFT140):c.2677G>T (p.Glu893Ter)
|
rs372746686
|
|
NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)
|
|
|
NM_014714.4(IFT140):c.2934C>A (p.Tyr978Ter)
|
rs777862012
|
|
NM_014714.4(IFT140):c.2944_2948delinsGGGG (p.Arg982fs)
|
rs2040631802
|
|
NM_014714.4(IFT140):c.2987del (p.Asn996fs)
|
|
|
NM_014714.4(IFT140):c.2T>C (p.Met1Thr)
|
|
|
NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter)
|
|
|
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter)
|
rs774547622
|
|
NM_014714.4(IFT140):c.3141+1G>T
|
rs764770536
|
|
NM_014714.4(IFT140):c.3192del (p.Glu1065fs)
|
rs1567327347
|
|
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs)
|
rs766084603
|
|
NM_014714.4(IFT140):c.3313C>T (p.Gln1105Ter)
|
|
|
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs)
|
rs765669703
|
|
NM_014714.4(IFT140):c.3454-488_4182+2588dup
|
|
|
NM_014714.4(IFT140):c.3489del (p.Asn1163fs)
|
rs2141148172
|
|
NM_014714.4(IFT140):c.3502G>T (p.Glu1168Ter)
|
|
|
NM_014714.4(IFT140):c.3640C>T (p.Gln1214Ter)
|
rs2141147087
|
|
NM_014714.4(IFT140):c.3672_3673del (p.Leu1225fs)
|
rs754400742
|
|
NM_014714.4(IFT140):c.3691_3692del (p.Thr1231fs)
|
rs2141145188
|
|
NM_014714.4(IFT140):c.3727C>T (p.Gln1243Ter)
|
rs2141144931
|
|
NM_014714.4(IFT140):c.378del (p.Leu127fs)
|
|
|
NM_014714.4(IFT140):c.3891C>A (p.Tyr1297Ter)
|
|
|
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs)
|
rs587776909
|
|
NM_014714.4(IFT140):c.3981del (p.Arg1328fs)
|
rs1431530916
|
|
NM_014714.4(IFT140):c.4041-2A>G
|
|
|
NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg)
|
rs431905520
|
|
NM_014714.4(IFT140):c.482dup (p.Pro162fs)
|
rs763737398
|
|
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter)
|
rs559314300
|
|
NM_014714.4(IFT140):c.54del (p.Ser19fs)
|
rs2142100542
|
|
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter)
|
rs2035218747
|
|
NM_014714.4(IFT140):c.565del (p.Ser189fs)
|
|
|
NM_014714.4(IFT140):c.857_860del (p.Ile286fs)
|
rs431905506
|
|
NM_014714.4(IFT140):c.874G>A (p.Val292Met)
|
rs431905521
|
|
NM_014714.4(IFT140):c.889G>T (p.Glu297Ter)
|
|
|
NM_014714.4(IFT140):c.910del (p.Asp304fs)
|
|
|
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter)
|
rs1307461796
|
|
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys)
|
rs387907193
|
|
NM_014714.4:c.(?_-1)_(*1_?)del
|
|
|
NM_025132.4(WDR19):c.1442A>G (p.His481Arg)
|
rs1729264976
|
|
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp)
|
rs766616967
|
|