NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)
|
rs140611214
|
0.00016
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
|
rs772544112
|
0.00006
|
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)
|
rs377160857
|
0.00006
|
NM_014956.5(CEP164):c.1669dup (p.Glu557fs)
|
rs749114363
|
0.00004
|
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)
|
rs562932233
|
0.00004
|
NM_014956.5(CEP164):c.3055C>T (p.Gln1019Ter)
|
rs746453731
|
0.00004
|
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)
|
rs149195472
|
0.00004
|
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs)
|
rs1353172956
|
0.00004
|
NM_025132.4(WDR19):c.3565+1G>A
|
rs587777352
|
0.00004
|
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)
|
rs751290509
|
0.00004
|
NM_025132.4(WDR19):c.781dup (p.Thr261fs)
|
rs748656635
|
0.00004
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter)
|
rs145646425
|
0.00002
|
NM_014956.5(CEP164):c.2020C>T (p.Arg674Ter)
|
rs963142616
|
0.00002
|
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)
|
rs764893412
|
0.00002
|
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter)
|
rs780849567
|
0.00002
|
NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter)
|
rs748174246
|
0.00002
|
NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter)
|
rs1286714661
|
0.00001
|
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)
|
rs797045947
|
0.00001
|
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter)
|
rs267607031
|
0.00001
|
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)
|
rs765277720
|
0.00001
|
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)
|
rs774951398
|
0.00001
|
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)
|
rs771148519
|
0.00001
|
NM_025132.4(WDR19):c.275T>G (p.Leu92Ter)
|
rs926405916
|
0.00001
|
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)
|
rs587777351
|
0.00001
|
NM_025132.4(WDR19):c.388C>T (p.Arg130Ter)
|
rs778039192
|
0.00001
|
NC_000001.10:g.(?_243303219)_(243456541_?)del
|
|
|
NC_000001.10:g.(?_243335979)_(243419562_?)del
|
|
|
NC_000001.11:g.(?_242268256)_(243843190_?)del
|
|
|
NC_000001.11:g.(?_243415682)_(243415849_?)del
|
|
|
NC_000004.11:g.(?_39184178)_(39184203_?)del
|
|
|
NC_000004.11:g.(?_39216201)_(39218880_?)del
|
|
|
NC_000004.11:g.(?_39218734)_(39219745_?)del
|
|
|
NC_000004.11:g.(?_39257448)_(39257600_?)del
|
|
|
NC_000011.9:g.(?_116660844)_(117870356_?)del
|
|
|
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)
|
rs964673995
|
|
NM_006642.5(SDCCAG8):c.1159del (p.Ala387fs)
|
rs778900414
|
|
NM_006642.5(SDCCAG8):c.1177del (p.Met392_Met393insTer)
|
|
|
NM_006642.5(SDCCAG8):c.1418dup (p.Glu474fs)
|
|
|
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)
|
rs397515335
|
|
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs)
|
rs587777847
|
|
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs)
|
rs1390963789
|
|
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)
|
rs2080721288
|
|
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter)
|
rs756518004
|
|
NM_006642.5(SDCCAG8):c.234dup (p.Asp79fs)
|
rs2149263988
|
|
NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter)
|
rs201658593
|
|
NM_006642.5(SDCCAG8):c.252del (p.Ala85fs)
|
|
|
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter)
|
rs768207230
|
|
NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)
|
|
|
NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)
|
|
|
NM_006642.5(SDCCAG8):c.553_554del (p.Met185fs)
|
|
|
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)
|
rs797045948
|
|
NM_006642.5(SDCCAG8):c.629dup (p.Asn210fs)
|
|
|
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer)
|
rs1558264626
|
|
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter)
|
rs149038104
|
|
NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)
|
|
|
NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)
|
|
|
NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)
|
|
|
NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)
|
|
|
NM_014956.5(CEP164):c.1179_1180delinsCT (p.Lys393_Glu394delinsAsnTer)
|
|
|
NM_014956.5(CEP164):c.1257del (p.Ser420fs)
|
|
|
NM_014956.5(CEP164):c.1298del (p.Leu433fs)
|
|
|
NM_014956.5(CEP164):c.1444C>T (p.Gln482Ter)
|
rs2136139535
|
|
NM_014956.5(CEP164):c.1481dup (p.Pro495fs)
|
rs752518735
|
|
NM_014956.5(CEP164):c.1482del (p.Gln496fs)
|
|
|
NM_014956.5(CEP164):c.1501C>T (p.Gln501Ter)
|
|
|
NM_014956.5(CEP164):c.151C>T (p.Arg51Ter)
|
|
|
NM_014956.5(CEP164):c.1534dup (p.Glu512fs)
|
|
|
NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter)
|
rs387907311
|
|
NM_014956.5(CEP164):c.1657C>T (p.Gln553Ter)
|
|
|
NM_014956.5(CEP164):c.1819C>T (p.Gln607Ter)
|
|
|
NM_014956.5(CEP164):c.1921G>T (p.Glu641Ter)
|
|
|
NM_014956.5(CEP164):c.1996G>T (p.Glu666Ter)
|
rs2136318333
|
|
NM_014956.5(CEP164):c.2044C>T (p.Gln682Ter)
|
|
|
NM_014956.5(CEP164):c.241C>T (p.Gln81Ter)
|
|
|
NM_014956.5(CEP164):c.2481del (p.Tyr828fs)
|
|
|
NM_014956.5(CEP164):c.2535_2536dup (p.Glu846fs)
|
|
|
NM_014956.5(CEP164):c.2656G>T (p.Gly886Ter)
|
rs377597884
|
|
NM_014956.5(CEP164):c.266dup (p.Asp89fs)
|
rs1565454034
|
|
NM_014956.5(CEP164):c.2688_2691del (p.Arg897fs)
|
rs1317765862
|
|
NM_014956.5(CEP164):c.2836G>T (p.Glu946Ter)
|
|
|
NM_014956.5(CEP164):c.2942_2943del (p.Glu981fs)
|
rs2136450623
|
|
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)
|
rs1323529877
|
|
NM_014956.5(CEP164):c.2998del (p.Ile1000fs)
|
|
|
NM_014956.5(CEP164):c.3039_3040dup (p.Gln1014fs)
|
|
|
NM_014956.5(CEP164):c.3109C>T (p.Gln1037Ter)
|
rs2136466034
|
|
NM_014956.5(CEP164):c.3193del (p.Asp1065fs)
|
|
|
NM_014956.5(CEP164):c.347_348insT (p.Lys116fs)
|
rs1565455033
|
|
NM_014956.5(CEP164):c.349_352del (p.Glu117fs)
|
|
|
NM_014956.5(CEP164):c.3528del (p.Lys1176fs)
|
|
|
NM_014956.5(CEP164):c.3598_3599del (p.Trp1201fs)
|
|
|
NM_014956.5(CEP164):c.3685dup (p.Leu1229fs)
|
|
|
NM_014956.5(CEP164):c.3711_3712del (p.Ser1238fs)
|
rs2047013877
|
|
NM_014956.5(CEP164):c.3732G>A (p.Trp1244Ter)
|
|
|
NM_014956.5(CEP164):c.381del (p.Ser129fs)
|
|
|
NM_014956.5(CEP164):c.381dup (p.Lys128fs)
|
rs747914869
|
|
NM_014956.5(CEP164):c.4001G>A (p.Trp1334Ter)
|
|
|
NM_014956.5(CEP164):c.4006_4025del (p.Trp1336fs)
|
|
|
NM_014956.5(CEP164):c.40_41del (p.Leu14fs)
|
|
|
NM_014956.5(CEP164):c.591_593delinsCTCCATATATGAGGACAAGACTGCTCTCAGC (p.Leu198fs)
|
|
|
NM_014956.5(CEP164):c.749dup (p.Gly250_Asp251insTer)
|
rs1402460878
|
|
NM_014956.5(CEP164):c.88_89del (p.Ile29_Leu30insTer)
|
|
|
NM_014956.5(CEP164):c.893del (p.Gly298fs)
|
|
|
NM_025132.4(WDR19):c.1080del (p.Ile361fs)
|
rs1553907440
|
|
NM_025132.4(WDR19):c.142dup (p.Arg48fs)
|
rs1577823005
|
|
NM_025132.4(WDR19):c.1534C>T (p.Arg512Ter)
|
|
|
NM_025132.4(WDR19):c.1777+1del
|
|
|
NM_025132.4(WDR19):c.1867_1868del (p.Gln623fs)
|
|
|
NM_025132.4(WDR19):c.1911_1914del (p.Phe637fs)
|
rs1730535406
|
|
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)
|
|
|
NM_025132.4(WDR19):c.2276G>A (p.Trp759Ter)
|
|
|
NM_025132.4(WDR19):c.2277G>A (p.Trp759Ter)
|
|
|
NM_025132.4(WDR19):c.2337del (p.Glu780fs)
|
|
|
NM_025132.4(WDR19):c.234C>A (p.Cys78Ter)
|
rs1232301082
|
|
NM_025132.4(WDR19):c.2351_2361del (p.Gln784fs)
|
rs2109377653
|
|
NM_025132.4(WDR19):c.2481dup (p.Arg828fs)
|
rs2109405851
|
|
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)
|
rs775181779
|
|
NM_025132.4(WDR19):c.2589T>G (p.Tyr863Ter)
|
|
|
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs)
|
rs1421636172
|
|
NM_025132.4(WDR19):c.2771G>A (p.Trp924Ter)
|
|
|
NM_025132.4(WDR19):c.2772G>A (p.Trp924Ter)
|
|
|
NM_025132.4(WDR19):c.2797del (p.Asp933fs)
|
|
|
NM_025132.4(WDR19):c.2972del (p.Asn991fs)
|
|
|
NM_025132.4(WDR19):c.3184-2A>C
|
rs1020915921
|
|
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)
|
rs387906981
|
|
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)
|
rs1401145684
|
|
NM_025132.4(WDR19):c.3457del (p.Ile1153fs)
|
|
|
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs)
|
rs747165335
|
|
NM_025132.4(WDR19):c.422_423del (p.Arg141fs)
|
|
|
NM_025132.4(WDR19):c.441G>A (p.Trp147Ter)
|
rs1273811425
|
|
NM_025132.4(WDR19):c.526C>T (p.Gln176Ter)
|
|
|
NM_025132.4(WDR19):c.632dup (p.Leu211fs)
|
rs2109299952
|
|
NM_025132.4(WDR19):c.641dup (p.Leu214fs)
|
rs587777348
|
|
NM_025132.4(WDR19):c.697_701dup (p.Val235fs)
|
|
|
NM_025132.4(WDR19):c.749C>G (p.Ser250Ter)
|
|
|
NM_025132.4(WDR19):c.812del (p.Ala271fs)
|
|
|
NM_025132.4(WDR19):c.826_827del (p.Lys275_Asp276insTer)
|
|
|