NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)
|
rs118204049
|
0.00003
|
NM_015346.4(ZFYVE26):c.4804C>T (p.Arg1602Ter)
|
rs558285072
|
0.00002
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter)
|
rs200832994
|
0.00002
|
NM_015346.4(ZFYVE26):c.150dup (p.Glu51fs)
|
rs754133842
|
0.00001
|
NM_015346.4(ZFYVE26):c.2182C>T (p.Arg728Ter)
|
rs981804211
|
0.00001
|
NM_015346.4(ZFYVE26):c.2620C>T (p.Gln874Ter)
|
rs1393427823
|
0.00001
|
NM_015346.4(ZFYVE26):c.2777del (p.Ser926fs)
|
rs1300333437
|
0.00001
|
NM_015346.4(ZFYVE26):c.2795del (p.Leu932fs)
|
rs765748845
|
0.00001
|
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)
|
rs988442865
|
0.00001
|
NM_015346.4(ZFYVE26):c.3693C>A (p.Cys1231Ter)
|
rs769672677
|
0.00001
|
NM_015346.4(ZFYVE26):c.4114_4115insGAAGGGC (p.Ala1372fs)
|
rs950356390
|
0.00001
|
NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter)
|
rs370828455
|
0.00001
|
NM_015346.4(ZFYVE26):c.4936C>T (p.Arg1646Ter)
|
rs768366199
|
0.00001
|
NM_015346.4(ZFYVE26):c.5715del (p.Asp1906fs)
|
rs868672014
|
0.00001
|
NM_015346.4(ZFYVE26):c.6141C>A (p.Tyr2047Ter)
|
rs1006249036
|
0.00001
|
NM_015346.4(ZFYVE26):c.6144C>A (p.Tyr2048Ter)
|
rs756042888
|
0.00001
|
NM_015346.4(ZFYVE26):c.6296dup (p.Asn2100fs)
|
rs1555394376
|
0.00001
|
NM_015346.4(ZFYVE26):c.7128+2T>A
|
rs1049504575
|
0.00001
|
NC_000014.8:g.(?_68246948)_(68250252_?)del
|
|
|
NC_000014.8:g.(?_68251041)_(68282690_?)del
|
|
|
NC_000014.8:g.(?_68256042)_(68282690_?)del
|
|
|
NC_000014.8:g.(?_68280683)_(68282680_?)del
|
|
|
NC_000014.8:g.(?_68282477)_(68282690_?)del
|
|
|
NC_000014.9:g.(?_67789325)_(67790783_?)del
|
|
|
NC_000014.9:g.(?_67793598)_(67794249_?)del
|
|
|
NC_000014.9:g.(?_67813976)_(67815973_?)del
|
|
|
NM_015346.4(ZFYVE26):c.1003_1012del (p.Leu335fs)
|
|
|
NM_015346.4(ZFYVE26):c.1093del (p.Leu365fs)
|
|
|
NM_015346.4(ZFYVE26):c.1129del (p.Cys377fs)
|
rs2140250002
|
|
NM_015346.4(ZFYVE26):c.112C>T (p.Gln38Ter)
|
rs2140260878
|
|
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs)
|
rs1190463308
|
|
NM_015346.4(ZFYVE26):c.1354del (p.Thr452fs)
|
rs2140248598
|
|
NM_015346.4(ZFYVE26):c.1414A>T (p.Lys472Ter)
|
|
|
NM_015346.4(ZFYVE26):c.1488_1491del (p.Leu497fs)
|
|
|
NM_015346.4(ZFYVE26):c.1491_1492del (p.Tyr498fs)
|
|
|
NM_015346.4(ZFYVE26):c.1494C>G (p.Tyr498Ter)
|
|
|
NM_015346.4(ZFYVE26):c.1544C>A (p.Ser515Ter)
|
rs2040090240
|
|
NM_015346.4(ZFYVE26):c.1558C>T (p.Gln520Ter)
|
|
|
NM_015346.4(ZFYVE26):c.156del (p.Asp52fs)
|
|
|
NM_015346.4(ZFYVE26):c.1630_1631del (p.Ser544fs)
|
|
|
NM_015346.4(ZFYVE26):c.1713C>A (p.Cys571Ter)
|
|
|
NM_015346.4(ZFYVE26):c.1742_1751dup (p.Thr585fs)
|
|
|
NM_015346.4(ZFYVE26):c.1792del (p.Asp598fs)
|
rs748149642
|
|
NM_015346.4(ZFYVE26):c.1797T>G (p.Tyr599Ter)
|
|
|
NM_015346.4(ZFYVE26):c.1861C>T (p.Gln621Ter)
|
rs1594930532
|
|
NM_015346.4(ZFYVE26):c.1955_1956del (p.Glu652fs)
|
|
|
NM_015346.4(ZFYVE26):c.1966dup (p.Ser656fs)
|
rs2140242999
|
|
NM_015346.4(ZFYVE26):c.1971C>G (p.Tyr657Ter)
|
rs2040001177
|
|
NM_015346.4(ZFYVE26):c.1973del (p.Pro658fs)
|
rs2140242980
|
|
NM_015346.4(ZFYVE26):c.2003T>G (p.Leu668Ter)
|
rs2140242947
|
|
NM_015346.4(ZFYVE26):c.2040del (p.Asp681fs)
|
|
|
NM_015346.4(ZFYVE26):c.2040dup (p.Asp681Ter)
|
|
|
NM_015346.4(ZFYVE26):c.2083C>T (p.Gln695Ter)
|
rs2039997721
|
|
NM_015346.4(ZFYVE26):c.2114dup (p.Pro705_Glu706insTer)
|
rs1279863038
|
|
NM_015346.4(ZFYVE26):c.2115del (p.Glu706fs)
|
|
|
NM_015346.4(ZFYVE26):c.2141del (p.Ser714fs)
|
|
|
NM_015346.4(ZFYVE26):c.2251del (p.Glu751fs)
|
rs2140242274
|
|
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter)
|
rs1057518016
|
|
NM_015346.4(ZFYVE26):c.2263C>T (p.Arg755Ter)
|
rs1297072049
|
|
NM_015346.4(ZFYVE26):c.2271C>G (p.Tyr757Ter)
|
rs1167190644
|
|
NM_015346.4(ZFYVE26):c.231G>A (p.Trp77Ter)
|
rs140354725
|
|
NM_015346.4(ZFYVE26):c.2338C>T (p.Arg780Ter)
|
rs941230062
|
|
NM_015346.4(ZFYVE26):c.2404G>T (p.Gly802Ter)
|
rs371660600
|
|
NM_015346.4(ZFYVE26):c.2450del (p.Leu817fs)
|
rs768176054
|
|
NM_015346.4(ZFYVE26):c.2451_2452insGTCTATAGGAGCTTGTGTTTTGCTGTAGAAGGAGCAGCAGGTGTCATAGTTATTCATTATCCTCTGTCTCTAACTACACAGATCTTGGCTGTCAAGCCAACTTCACACTTCCTACTCTATAAGGAGCTGATAATTGACTTTCTCTCTTCTTCCCAATACCTGTAGATGGCCGAGACTACAGG (p.His818delinsValTyrArgSerLeuCysPheAlaValGluGlyAlaAlaGlyValIleValIleHisTyrProLeuSerLeuThrThrGlnIleLeuAlaValLysProThrSerHisPheLeuLeuTyrLysGluLeuIleIleAspPheLeuSerSerSerGlnTyrLeuTer)
|
|
|
NM_015346.4(ZFYVE26):c.2458del (p.His820fs)
|
rs2140237876
|
|
NM_015346.4(ZFYVE26):c.2504C>G (p.Ser835Ter)
|
rs2140237785
|
|
NM_015346.4(ZFYVE26):c.250del (p.Glu84fs)
|
|
|
NM_015346.4(ZFYVE26):c.2591C>G (p.Ser864Ter)
|
|
|
NM_015346.4(ZFYVE26):c.2596G>T (p.Glu866Ter)
|
|
|
NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer)
|
rs1555398241
|
|
NM_015346.4(ZFYVE26):c.2639T>C (p.Leu880Pro)
|
rs2039789225
|
|
NM_015346.4(ZFYVE26):c.2675C>G (p.Ser892Ter)
|
rs2140234028
|
|
NM_015346.4(ZFYVE26):c.2684_2700dup (p.Arg901fs)
|
rs2039786680
|
|
NM_015346.4(ZFYVE26):c.2712del (p.Ser904fs)
|
|
|
NM_015346.4(ZFYVE26):c.2792del (p.Lys931fs)
|
rs752905387
|
|
NM_015346.4(ZFYVE26):c.2830C>T (p.Gln944Ter)
|
|
|
NM_015346.4(ZFYVE26):c.2955del (p.Leu984_Trp985insTer)
|
|
|
NM_015346.4(ZFYVE26):c.3022C>T (p.Arg1008Ter)
|
rs766888372
|
|
NM_015346.4(ZFYVE26):c.3061C>T (p.Arg1021Ter)
|
rs2039651443
|
|
NM_015346.4(ZFYVE26):c.308del (p.Glu103fs)
|
rs2140253820
|
|
NM_015346.4(ZFYVE26):c.3182del (p.Ile1061fs)
|
rs1257825464
|
|
NM_015346.4(ZFYVE26):c.3253C>T (p.Gln1085Ter)
|
rs2140227651
|
|
NM_015346.4(ZFYVE26):c.3256C>T (p.Gln1086Ter)
|
rs2140227633
|
|
NM_015346.4(ZFYVE26):c.327del (p.Asp110fs)
|
|
|
NM_015346.4(ZFYVE26):c.3340C>T (p.Gln1114Ter)
|
rs1329201909
|
|
NM_015346.4(ZFYVE26):c.3349C>T (p.Gln1117Ter)
|
rs2140226621
|
|
NM_015346.4(ZFYVE26):c.3373del (p.His1125fs)
|
rs878855011
|
|
NM_015346.4(ZFYVE26):c.3403C>T (p.Gln1135Ter)
|
rs2039616151
|
|
NM_015346.4(ZFYVE26):c.3447_3466del (p.Met1149fs)
|
rs2039613696
|
|
NM_015346.4(ZFYVE26):c.3593_3594dup (p.Leu1199fs)
|
rs2039593666
|
|
NM_015346.4(ZFYVE26):c.35C>A (p.Ser12Ter)
|
rs200174594
|
|
NM_015346.4(ZFYVE26):c.3610C>T (p.Gln1204Ter)
|
rs759856890
|
|
NM_015346.4(ZFYVE26):c.363+1G>A
|
rs935301743
|
|
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs)
|
rs773333879
|
|
NM_015346.4(ZFYVE26):c.36_46del (p.Gln13fs)
|
rs2140261040
|
|
NM_015346.4(ZFYVE26):c.3853G>T (p.Glu1285Ter)
|
rs2140223564
|
|
NM_015346.4(ZFYVE26):c.385C>T (p.Gln129Ter)
|
|
|
NM_015346.4(ZFYVE26):c.3935C>A (p.Ser1312Ter)
|
rs752283089
|
|
NM_015346.4(ZFYVE26):c.3980T>G (p.Leu1327Ter)
|
rs1594913346
|
|
NM_015346.4(ZFYVE26):c.4025del (p.Arg1342fs)
|
rs2140223189
|
|
NM_015346.4(ZFYVE26):c.4096_4099del (p.Phe1366fs)
|
rs774867891
|
|
NM_015346.4(ZFYVE26):c.4121G>A (p.Trp1374Ter)
|
rs2140222986
|
|
NM_015346.4(ZFYVE26):c.4132C>T (p.Arg1378Ter)
|
rs774809466
|
|
NM_015346.4(ZFYVE26):c.4144C>T (p.Gln1382Ter)
|
rs1454587963
|
|
NM_015346.4(ZFYVE26):c.4147C>T (p.Gln1383Ter)
|
rs2140222938
|
|
NM_015346.4(ZFYVE26):c.4182G>A (p.Trp1394Ter)
|
rs2039543383
|
|
NM_015346.4(ZFYVE26):c.4291C>T (p.Gln1431Ter)
|
rs2140222661
|
|
NM_015346.4(ZFYVE26):c.4359T>A (p.Cys1453Ter)
|
rs1594912625
|
|
NM_015346.4(ZFYVE26):c.4384del (p.Trp1462fs)
|
rs2140220785
|
|
NM_015346.4(ZFYVE26):c.440del (p.Pro147fs)
|
|
|
NM_015346.4(ZFYVE26):c.4455del (p.Trp1485fs)
|
rs1566881181
|
|
NM_015346.4(ZFYVE26):c.4496C>A (p.Ser1499Ter)
|
|
|
NM_015346.4(ZFYVE26):c.4599G>A (p.Trp1533Ter)
|
rs2140219010
|
|
NM_015346.4(ZFYVE26):c.4608G>A (p.Trp1536Ter)
|
rs2140218992
|
|
NM_015346.4(ZFYVE26):c.4633G>T (p.Glu1545Ter)
|
rs763869212
|
|
NM_015346.4(ZFYVE26):c.4640_4643del (p.Pro1547fs)
|
|
|
NM_015346.4(ZFYVE26):c.4643C>G (p.Ser1548Ter)
|
rs1594910045
|
|
NM_015346.4(ZFYVE26):c.4767dup (p.Glu1590fs)
|
rs2140215707
|
|
NM_015346.4(ZFYVE26):c.4864_4865del (p.His1621_Thr1622insTer)
|
rs1594906944
|
|
NM_015346.4(ZFYVE26):c.4951C>T (p.Gln1651Ter)
|
|
|
NM_015346.4(ZFYVE26):c.4996C>T (p.Gln1666Ter)
|
|
|
NM_015346.4(ZFYVE26):c.5028dup (p.Asn1677Ter)
|
rs2140212599
|
|
NM_015346.4(ZFYVE26):c.5036del (p.Leu1679fs)
|
rs753426920
|
|
NM_015346.4(ZFYVE26):c.5050C>T (p.Gln1684Ter)
|
rs2039333225
|
|
NM_015346.4(ZFYVE26):c.5111del (p.Leu1704fs)
|
rs2140212384
|
|
NM_015346.4(ZFYVE26):c.5215C>T (p.Arg1739Ter)
|
rs1214483973
|
|
NM_015346.4(ZFYVE26):c.5254C>T (p.Gln1752Ter)
|
|
|
NM_015346.4(ZFYVE26):c.5254del (p.Gln1752fs)
|
rs1272539937
|
|
NM_015346.4(ZFYVE26):c.5278_5281dup (p.Arg1761delinsThrTer)
|
rs2039304656
|
|
NM_015346.4(ZFYVE26):c.529G>T (p.Glu177Ter)
|
rs2040215878
|
|
NM_015346.4(ZFYVE26):c.5355_5376dup (p.Pro1793fs)
|
rs2140207535
|
|
NM_015346.4(ZFYVE26):c.5358del (p.Ser1787fs)
|
rs2039228359
|
|
NM_015346.4(ZFYVE26):c.5374C>T (p.Gln1792Ter)
|
|
|
NM_015346.4(ZFYVE26):c.5383C>T (p.Gln1795Ter)
|
rs1015483969
|
|
NM_015346.4(ZFYVE26):c.5399del (p.Pro1800fs)
|
|
|
NM_015346.4(ZFYVE26):c.5415del (p.Arg1806fs)
|
|
|
NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)
|
rs387907057
|
|
NM_015346.4(ZFYVE26):c.5426G>A (p.Trp1809Ter)
|
rs1594900921
|
|
NM_015346.4(ZFYVE26):c.5442_5443del (p.Ser1816fs)
|
rs2140207359
|
|
NM_015346.4(ZFYVE26):c.5621+1G>A
|
|
|
NM_015346.4(ZFYVE26):c.5621+2T>G
|
|
|
NM_015346.4(ZFYVE26):c.5690C>A (p.Ser1897Ter)
|
|
|
NM_015346.4(ZFYVE26):c.5694dup (p.Val1899fs)
|
rs2039098098
|
|
NM_015346.4(ZFYVE26):c.5698del (p.Val1899_Val1900insTer)
|
rs2140201355
|
|
NM_015346.4(ZFYVE26):c.5710A>T (p.Lys1904Ter)
|
rs2140201330
|
|
NM_015346.4(ZFYVE26):c.5729G>A (p.Trp1910Ter)
|
|
|
NM_015346.4(ZFYVE26):c.5844del (p.Ile1948fs)
|
rs2140199559
|
|
NM_015346.4(ZFYVE26):c.5857C>T (p.Gln1953Ter)
|
rs2140199533
|
|
NM_015346.4(ZFYVE26):c.5870del (p.His1957fs)
|
|
|
NM_015346.4(ZFYVE26):c.5884_5894delinsAATC (p.Ser1962fs)
|
rs2039058807
|
|
NM_015346.4(ZFYVE26):c.5919del (p.Leu1974fs)
|
rs2140199396
|
|
NM_015346.4(ZFYVE26):c.5941C>T (p.Gln1981Ter)
|
|
|
NM_015346.4(ZFYVE26):c.6011+1del
|
rs2140199204
|
|
NM_015346.4(ZFYVE26):c.6031del (p.Val2011fs)
|
|
|
NM_015346.4(ZFYVE26):c.6035del (p.Leu2012fs)
|
|
|
NM_015346.4(ZFYVE26):c.6112del (p.Arg2037_Leu2038insTer)
|
rs2140194701
|
|
NM_015346.4(ZFYVE26):c.6147del (p.Gln2049fs)
|
|
|
NM_015346.4(ZFYVE26):c.6338dup (p.Glu2114fs)
|
|
|
NM_015346.4(ZFYVE26):c.6350dup (p.Arg2118fs)
|
|
|
NM_015346.4(ZFYVE26):c.6360del (p.Phe2120fs)
|
rs2140193931
|
|
NM_015346.4(ZFYVE26):c.636del (p.Gly213_Val214insTer)
|
|
|
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter)
|
rs2140192948
|
|
NM_015346.4(ZFYVE26):c.6390del (p.Thr2131fs)
|
rs2140192941
|
|
NM_015346.4(ZFYVE26):c.6424C>T (p.Gln2142Ter)
|
|
|
NM_015346.4(ZFYVE26):c.6480C>G (p.Tyr2160Ter)
|
rs2038926434
|
|
NM_015346.4(ZFYVE26):c.6589G>T (p.Glu2197Ter)
|
|
|
NM_015346.4(ZFYVE26):c.6610del (p.Phe2203_Ile2204insTer)
|
rs2140185555
|
|
NM_015346.4(ZFYVE26):c.6711C>G (p.Tyr2237Ter)
|
|
|
NM_015346.4(ZFYVE26):c.6757del (p.Ile2253fs)
|
rs2140185372
|
|
NM_015346.4(ZFYVE26):c.6775C>T (p.Gln2259Ter)
|
rs1262211844
|
|
NM_015346.4(ZFYVE26):c.6838_6839del (p.Lys2280fs)
|
|
|
NM_015346.4(ZFYVE26):c.6846_6847del (p.Thr2283fs)
|
|
|
NM_015346.4(ZFYVE26):c.684dup (p.Ala229fs)
|
|
|
NM_015346.4(ZFYVE26):c.69C>A (p.Cys23Ter)
|
|
|
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter)
|
rs370837940
|
|
NM_015346.4(ZFYVE26):c.7128+1G>A
|
|
|
NM_015346.4(ZFYVE26):c.7144A>T (p.Lys2382Ter)
|
|
|
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter)
|
rs869312914
|
|
NM_015346.4(ZFYVE26):c.7195del (p.Gln2399fs)
|
rs2140181246
|
|
NM_015346.4(ZFYVE26):c.7251_7252del (p.Lys2418fs)
|
|
|
NM_015346.4(ZFYVE26):c.7270C>T (p.Gln2424Ter)
|
|
|
NM_015346.4(ZFYVE26):c.837T>G (p.Tyr279Ter)
|
rs1594938339
|
|
NM_015346.4(ZFYVE26):c.86G>A (p.Trp29Ter)
|
rs760484081
|
|
NM_015346.4(ZFYVE26):c.960G>A (p.Trp320Ter)
|
rs1177577061
|
|
NM_015346.4(ZFYVE26):c.961A>T (p.Lys321Ter)
|
rs375820273
|
|