NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
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_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)
|
rs727503968
|
0.00006
|
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
|
rs772544112
|
0.00006
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)
|
rs569364202
|
0.00006
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)
|
rs377160857
|
0.00006
|
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)
|
rs1368105372
|
0.00005
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
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_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
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_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)
|
rs137852923
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter)
|
rs575767207
|
0.00003
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)
|
rs547352656
|
0.00002
|
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)
|
rs765263671
|
0.00002
|
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_015102.5(NPHP4):c.3272del (p.Val1091fs)
|
rs1278089386
|
0.00002
|
NM_025114.4(CEP290):c.1066-1G>A
|
rs965522059
|
0.00002
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
|
rs770126103
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter)
|
rs748174246
|
0.00002
|
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)
|
rs387907009
|
0.00001
|
NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)
|
rs867772426
|
0.00001
|
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)
|
rs373909351
|
0.00001
|
NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)
|
rs1280238814
|
0.00001
|
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)
|
rs779858591
|
0.00001
|
NM_001023570.4(IQCB1):c.488-1G>A
|
rs779696701
|
0.00001
|
NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter)
|
rs1189889920
|
0.00001
|
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_014956.5(CEP164):c.277C>T (p.Arg93Trp)
|
rs387907310
|
0.00001
|
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)
|
rs1025515771
|
0.00001
|
NM_015650.4(TRAF3IP1):c.1559T>G (p.Met520Arg)
|
rs750055952
|
0.00001
|
NM_024753.5(TTC21B):c.1088-1G>C
|
rs753627675
|
0.00001
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
0.00001
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
NM_025132.4(WDR19):c.1477G>C (p.Asp493His)
|
rs587777349
|
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
|
GRCh37/hg19 2q13(chr2:110880893-110962659)
|
|
|
GRCh37/hg19 2q13(chr2:110880925-110962590)
|
|
|
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_000272.5(NPHP1):c.(?_-45)_(*443_?)del
|
|
|
NM_001023570.4(IQCB1):c.1069C>T (p.Gln357Ter)
|
rs121918245
|
|
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs)
|
rs1576559094
|
|
NM_001023570.4(IQCB1):c.1332G>A (p.Trp444Ter)
|
|
|
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)
|
rs866982675
|
|
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)
|
rs398123538
|
|
NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)
|
rs587783011
|
|
NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)
|
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.333del (p.Ala112fs)
|
rs786200929
|
|
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)
|
rs750962965
|
|
NM_001023570.4(IQCB1):c.445_448del (p.Leu149fs)
|
rs1156803164
|
|
NM_001023570.4(IQCB1):c.758del (p.Cys253fs)
|
rs770441610
|
|
NM_001023570.4(IQCB1):c.825_828del (p.Arg275fs)
|
rs1474058708
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs)
|
rs772827691
|
|
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.1324dup (p.Gln442fs)
|
rs747911477
|
|
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs)
|
rs387906218
|
|
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.1714C>T (p.Gln572Ter)
|
rs1573920009
|
|
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)
|
rs2080721288
|
|
NM_006642.5(SDCCAG8):c.1946_1949del (p.Cys649fs)
|
rs397515336
|
|
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter)
|
rs756518004
|
|
NM_006642.5(SDCCAG8):c.221-2A>G
|
rs797045946
|
|
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_006642.5(SDCCAG8):c.99_100del (p.Ala35fs)
|
rs1033766338
|
|
NM_014956.5(CEP164):c.1179_1180delinsCT (p.Lys393_Glu394delinsAsnTer)
|
|
|
NM_014956.5(CEP164):c.1257del (p.Ser420fs)
|
|
|
NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs)
|
rs2042674113
|
|
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.32A>C (p.Gln11Pro)
|
rs387907309
|
|
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.4286+1G>T
|
rs2047400808
|
|
NM_014956.5(CEP164):c.4381T>C (p.Ter1461Arg)
|
rs1565649749
|
|
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_015102.5(NPHP4):c.1271del (p.Lys424fs)
|
rs770306587
|
|
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)
|
rs780905861
|
|
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)
|
rs547495754
|
|
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)
|
rs137852922
|
|
NM_015102.5(NPHP4):c.3644+1G>T
|
rs756111113
|
|
NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs)
|
rs776535691
|
|
NM_015650.4(TRAF3IP1):c.1575+6T>G
|
rs886037897
|
|
NM_015650.4(TRAF3IP1):c.373G>A (p.Val125Met)
|
rs886037898
|
|
NM_015650.4(TRAF3IP1):c.374T>C (p.Val125Ala)
|
rs886037896
|
|
NM_015650.4(TRAF3IP1):c.463C>T (p.Arg155Ter)
|
rs765903345
|
|
NM_015650.4(TRAF3IP1):c.51T>G (p.Ile17Met)
|
rs886037899
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1830del (p.Glu610fs)
|
rs992032116
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2218_2222del (p.Ile740fs)
|
rs2137713030
|
|
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter)
|
rs753884599
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.297+1G>A
|
rs878853360
|
|
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer)
|
rs62640570
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
NM_025114.4(CEP290):c.366del (p.Lys122fs)
|
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)
|
rs779645669
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs)
|
rs281865188
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.679_680del (p.Glu227fs)
|
rs62640578
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)
|
rs2138086844
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7341del (p.Lys2447fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.828del (p.Glu277fs)
|
rs1555225566
|
|
NM_025132.4(WDR19):c.1080del (p.Ile361fs)
|
rs1553907440
|
|
NM_025132.4(WDR19):c.142dup (p.Arg48fs)
|
rs1577823005
|
|
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met)
|
rs886039814
|
|
NM_025132.4(WDR19):c.1483G>T (p.Gly495Cys)
|
rs1215108056
|
|
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.203T>A (p.Val68Asp)
|
rs786204852
|
|
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.407-2A>G
|
rs374400438
|
|
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)
|
|
|
Single allele
|
|
|