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.1513C>T (p.Arg505Ter)
|
rs1257804746
|
0.00004
|
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.70C>T (p.His24Tyr)
|
rs939722027
|
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.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
|
NC_000016.10:g.1602592del
|
rs2035852852
|
|
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.157_160del (p.Val53fs)
|
|
|
NM_014714.4(IFT140):c.169del (p.His57fs)
|
|
|
NM_014714.4(IFT140):c.217_218del (p.Arg73fs)
|
rs2035847573
|
|
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter)
|
rs1471379682
|
|
NM_014714.4(IFT140):c.2T>C (p.Met1Thr)
|
|
|
NM_014714.4(IFT140):c.378del (p.Leu127fs)
|
|
|
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
|
|