NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs)
|
rs779746050
|
0.00008
|
NM_033305.3(VPS13A):c.6094C>T (p.Arg2032Ter)
|
rs764376151
|
0.00005
|
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter)
|
rs200280742
|
0.00004
|
NM_033305.3(VPS13A):c.9367del (p.Val3123fs)
|
rs1358293369
|
0.00004
|
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)
|
rs951347128
|
0.00003
|
NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter)
|
rs771943305
|
0.00002
|
NM_033305.3(VPS13A):c.6340C>T (p.Arg2114Ter)
|
rs1417854249
|
0.00002
|
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter)
|
rs199807227
|
0.00002
|
NM_033305.3(VPS13A):c.2149C>T (p.Gln717Ter)
|
rs1825075709
|
0.00001
|
NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter)
|
rs1827161118
|
0.00001
|
NM_033305.3(VPS13A):c.4242+1G>T
|
rs754245019
|
0.00001
|
NM_033305.3(VPS13A):c.4969_5011del (p.Ile1657fs)
|
rs1469144732
|
0.00001
|
NM_033305.3(VPS13A):c.5881C>T (p.Arg1961Ter)
|
rs1286714220
|
0.00001
|
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter)
|
rs119477053
|
0.00001
|
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)
|
rs1055609567
|
0.00001
|
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter)
|
rs771004767
|
0.00001
|
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter)
|
rs148173878
|
0.00001
|
NC_000009.11:g.(?_79792611)_(79792730_?)del
|
|
|
NC_000009.11:g.(?_79792611)_(80030932_?)del
|
|
|
NC_000009.11:g.(?_79814841)_(79867288_?)del
|
|
|
NC_000009.11:g.(?_79851768)_79854605del
|
|
|
NC_000009.11:g.(?_79952161)_(79959207_?)del
|
|
|
NC_000009.11:g.(?_79959059)_(79960068_?)del
|
|
|
NC_000009.11:g.(?_79982961)_(79999609_?)del
|
|
|
NC_000009.11:g.(?_79996872)_(80022543_?)del
|
|
|
NC_000009.11:g.(?_79996872)_(80030922_?)del
|
|
|
NC_000009.11:g.(?_80018142)_(80030932_?)del
|
|
|
NC_000009.12:g.(?_77209413)_(77276231_?)del
|
|
|
NC_000009.12:g.(?_77212959)_(77213324_?)del
|
|
|
NC_000009.12:g.(?_77250087)_(77252362_?)del
|
|
|
NC_000009.12:g.(?_77280149)_(77295856_?)del
|
|
|
NC_000009.12:g.77337257_77337282del
|
rs1174858706
|
|
NC_000009.12:g.77345010_77345025del
|
|
|
NM_033305.3(VPS13A):c.1032C>A (p.Cys344Ter)
|
rs2131179725
|
|
NM_033305.3(VPS13A):c.1052C>A (p.Ser351Ter)
|
|
|
NM_033305.3(VPS13A):c.1078C>T (p.Gln360Ter)
|
|
|
NM_033305.3(VPS13A):c.1095T>G (p.Tyr365Ter)
|
rs2131179937
|
|
NM_033305.3(VPS13A):c.1099G>T (p.Glu367Ter)
|
rs2131179950
|
|
NM_033305.3(VPS13A):c.1108A>T (p.Lys370Ter)
|
rs1587358566
|
|
NM_033305.3(VPS13A):c.1115del (p.Lys372fs)
|
|
|
NM_033305.3(VPS13A):c.1115dup (p.Leu373fs)
|
|
|
NM_033305.3(VPS13A):c.1125_1128del (p.Ser375fs)
|
rs748999076
|
|
NM_033305.3(VPS13A):c.1162G>T (p.Glu388Ter)
|
rs2131193680
|
|
NM_033305.3(VPS13A):c.1290G>A (p.Trp430Ter)
|
rs1238782647
|
|
NM_033305.3(VPS13A):c.1304_1313del (p.Leu434_Trp435insTer)
|
rs2131195627
|
|
NM_033305.3(VPS13A):c.1305del (p.Trp435fs)
|
rs1564645568
|
|
NM_033305.3(VPS13A):c.1313C>G (p.Ser438Ter)
|
rs2131195653
|
|
NM_033305.3(VPS13A):c.1321_1322del (p.Asn441fs)
|
rs2131195691
|
|
NM_033305.3(VPS13A):c.135_139del (p.Glu45fs)
|
|
|
NM_033305.3(VPS13A):c.1400_1401del (p.Leu466_Tyr467insTer)
|
rs1823578716
|
|
NM_033305.3(VPS13A):c.145-2A>T
|
rs1447002141
|
|
NM_033305.3(VPS13A):c.1528dup (p.Leu510fs)
|
|
|
NM_033305.3(VPS13A):c.1562T>G (p.Leu521Ter)
|
|
|
NM_033305.3(VPS13A):c.1596-1G>C
|
|
|
NM_033305.3(VPS13A):c.1596-2A>G
|
rs2131230395
|
|
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
|
|
|
NM_033305.3(VPS13A):c.165del (p.Phe55fs)
|
|
|
NM_033305.3(VPS13A):c.1797_1798dup (p.Ser600fs)
|
|
|
NM_033305.3(VPS13A):c.1807G>T (p.Glu603Ter)
|
|
|
NM_033305.3(VPS13A):c.1869del (p.Lys623fs)
|
rs2131231475
|
|
NM_033305.3(VPS13A):c.187+1dup
|
|
|
NM_033305.3(VPS13A):c.1881dup (p.Arg628fs)
|
rs2131231500
|
|
NM_033305.3(VPS13A):c.1978C>T (p.Gln660Ter)
|
|
|
NM_033305.3(VPS13A):c.209del (p.Pro70fs)
|
rs2131122992
|
|
NM_033305.3(VPS13A):c.2102_2103del (p.Ile701fs)
|
|
|
NM_033305.3(VPS13A):c.2140dup (p.Thr714fs)
|
rs2131267421
|
|
NM_033305.3(VPS13A):c.217_218del (p.Asn73fs)
|
|
|
NM_033305.3(VPS13A):c.218del (p.Asn73fs)
|
rs1825576567
|
|
NM_033305.3(VPS13A):c.2200dup (p.Ser734fs)
|
|
|
NM_033305.3(VPS13A):c.2250_2253del (p.Ser751fs)
|
|
|
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs)
|
rs1825188183
|
|
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter)
|
rs1417246536
|
|
NM_033305.3(VPS13A):c.2336dup (p.Asp779fs)
|
rs2131293113
|
|
NM_033305.3(VPS13A):c.2343del (p.Lys781fs)
|
|
|
NM_033305.3(VPS13A):c.2343dup (p.Leu782fs)
|
|
|
NM_033305.3(VPS13A):c.2405del (p.Ser802fs)
|
rs2131293274
|
|
NM_033305.3(VPS13A):c.2412del (p.Val805fs)
|
rs2131293320
|
|
NM_033305.3(VPS13A):c.2456C>G (p.Ser819Ter)
|
rs762390488
|
|
NM_033305.3(VPS13A):c.2458_2462del (p.Gln820fs)
|
|
|
NM_033305.3(VPS13A):c.2484_2485del (p.Leu829fs)
|
rs1826458502
|
|
NM_033305.3(VPS13A):c.2500del (p.Val834fs)
|
rs2131325474
|
|
NM_033305.3(VPS13A):c.2516C>A (p.Ser839Ter)
|
|
|
NM_033305.3(VPS13A):c.2593C>T (p.Arg865Ter)
|
rs766404788
|
|
NM_033305.3(VPS13A):c.261_264del (p.Leu88_Leu89insTer)
|
rs1589994032
|
|
NM_033305.3(VPS13A):c.2624C>G (p.Ser875Ter)
|
|
|
NM_033305.3(VPS13A):c.263del (p.Leu88fs)
|
rs2131123226
|
|
NM_033305.3(VPS13A):c.2716del (p.Val905_Val906insTer)
|
rs1185750493
|
|
NM_033305.3(VPS13A):c.2741del (p.Gly914fs)
|
rs2131332519
|
|
NM_033305.3(VPS13A):c.2757del (p.Arg920fs)
|
|
|
NM_033305.3(VPS13A):c.2765dup (p.Tyr922Ter)
|
rs762247401
|
|
NM_033305.3(VPS13A):c.2789dup (p.Leu930fs)
|
|
|
NM_033305.3(VPS13A):c.2824+1G>A
|
|
|
NM_033305.3(VPS13A):c.2833A>T (p.Lys945Ter)
|
|
|
NM_033305.3(VPS13A):c.2903dup (p.Ala969fs)
|
|
|
NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter)
|
rs1827048548
|
|
NM_033305.3(VPS13A):c.302_306del (p.Pro100_Leu101insTer)
|
rs2131125631
|
|
NM_033305.3(VPS13A):c.3051dup (p.Glu1018fs)
|
|
|
NM_033305.3(VPS13A):c.3052del (p.Glu1018fs)
|
rs2131347192
|
|
NM_033305.3(VPS13A):c.308_309del (p.Glu103fs)
|
|
|
NM_033305.3(VPS13A):c.3091del (p.Asp1031fs)
|
|
|
NM_033305.3(VPS13A):c.3157C>T (p.Gln1053Ter)
|
rs766694176
|
|
NM_033305.3(VPS13A):c.3184C>T (p.Gln1062Ter)
|
rs1827159007
|
|
NM_033305.3(VPS13A):c.3200_3201insCC (p.Gln1068fs)
|
|
|
NM_033305.3(VPS13A):c.3227del (p.Lys1076fs)
|
rs1406208410
|
|
NM_033305.3(VPS13A):c.3304del (p.Val1102fs)
|
|
|
NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter)
|
rs780664594
|
|
NM_033305.3(VPS13A):c.3394del (p.Asp1132fs)
|
rs756830060
|
|
NM_033305.3(VPS13A):c.3421_3422del (p.Asp1141fs)
|
|
|
NM_033305.3(VPS13A):c.3456_3459del (p.Ile1152fs)
|
rs2131371963
|
|
NM_033305.3(VPS13A):c.3459del (p.Gly1154fs)
|
rs2131371975
|
|
NM_033305.3(VPS13A):c.3480dup (p.Val1161fs)
|
|
|
NM_033305.3(VPS13A):c.3481dup (p.Val1161fs)
|
rs2131372034
|
|
NM_033305.3(VPS13A):c.3513dup (p.Ile1172fs)
|
|
|
NM_033305.3(VPS13A):c.3562C>T (p.Gln1188Ter)
|
|
|
NM_033305.3(VPS13A):c.3574_3575del (p.Met1192fs)
|
|
|
NM_033305.3(VPS13A):c.3597_3598insT (p.Leu1200fs)
|
|
|
NM_033305.3(VPS13A):c.3664C>T (p.Gln1222Ter)
|
|
|
NM_033305.3(VPS13A):c.3748C>T (p.Gln1250Ter)
|
|
|
NM_033305.3(VPS13A):c.3761dup (p.Pro1255fs)
|
rs2131376583
|
|
NM_033305.3(VPS13A):c.3769del (p.Ile1257fs)
|
|
|
NM_033305.3(VPS13A):c.3802C>T (p.Arg1268Ter)
|
|
|
NM_033305.3(VPS13A):c.3817C>T (p.Arg1273Ter)
|
rs756096368
|
|
NM_033305.3(VPS13A):c.3841del (p.Glu1281fs)
|
|
|
NM_033305.3(VPS13A):c.3866dup (p.Leu1289fs)
|
rs2131394444
|
|
NM_033305.3(VPS13A):c.3909G>A (p.Trp1303Ter)
|
|
|
NM_033305.3(VPS13A):c.3913C>T (p.Gln1305Ter)
|
rs2131394544
|
|
NM_033305.3(VPS13A):c.3943C>T (p.Gln1315Ter)
|
|
|
NM_033305.3(VPS13A):c.3996del (p.Phe1332fs)
|
|
|
NM_033305.3(VPS13A):c.4054del (p.Thr1352fs)
|
|
|
NM_033305.3(VPS13A):c.4072_4073del (p.Ala1358fs)
|
|
|
NM_033305.3(VPS13A):c.4205_4208del (p.Asp1402fs)
|
|
|
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs)
|
rs2131427489
|
|
NM_033305.3(VPS13A):c.4284del (p.Glu1429fs)
|
rs2131427592
|
|
NM_033305.3(VPS13A):c.4326T>A (p.Tyr1442Ter)
|
|
|
NM_033305.3(VPS13A):c.4367_4368del (p.Cys1456fs)
|
|
|
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter)
|
rs1193250444
|
|
NM_033305.3(VPS13A):c.4428_4431del (p.Gly1478fs)
|
rs1417219341
|
|
NM_033305.3(VPS13A):c.4446dup (p.Asp1483fs)
|
rs1829322194
|
|
NM_033305.3(VPS13A):c.4455_4458del (p.Met1485fs)
|
|
|
NM_033305.3(VPS13A):c.4498dup (p.Ala1500fs)
|
rs1564721202
|
|
NM_033305.3(VPS13A):c.4692_4693del (p.Phe1565fs)
|
rs1296924903
|
|
NM_033305.3(VPS13A):c.4715dup (p.Asn1572fs)
|
|
|
NM_033305.3(VPS13A):c.4749_4750del (p.Cys1583_Glu1584delinsTer)
|
|
|
NM_033305.3(VPS13A):c.4879_4880dup (p.Asp1627fs)
|
|
|
NM_033305.3(VPS13A):c.4900C>T (p.Gln1634Ter)
|
|
|
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter)
|
rs1829478568
|
|
NM_033305.3(VPS13A):c.4956+1G>A
|
rs1085307823
|
|
NM_033305.3(VPS13A):c.49dup (p.Asp17fs)
|
rs2131030113
|
|
NM_033305.3(VPS13A):c.5024dup (p.Glu1677fs)
|
rs2131439491
|
|
NM_033305.3(VPS13A):c.5032del (p.Glu1678fs)
|
|
|
NM_033305.3(VPS13A):c.5051del (p.Ala1684fs)
|
|
|
NM_033305.3(VPS13A):c.5057del (p.Leu1686fs)
|
|
|
NM_033305.3(VPS13A):c.5075_5076del (p.Thr1692fs)
|
rs2131439679
|
|
NM_033305.3(VPS13A):c.5125dup (p.Ile1709fs)
|
rs2131439817
|
|
NM_033305.3(VPS13A):c.5219_5222dup (p.Val1742fs)
|
|
|
NM_033305.3(VPS13A):c.5345G>A (p.Trp1782Ter)
|
|
|
NM_033305.3(VPS13A):c.5367dup (p.Glu1790fs)
|
|
|
NM_033305.3(VPS13A):c.5370_5371insT (p.Ile1791fs)
|
rs2131443885
|
|
NM_033305.3(VPS13A):c.5425_5428del (p.Lys1809fs)
|
|
|
NM_033305.3(VPS13A):c.5480del (p.Pro1827fs)
|
rs1829725848
|
|
NM_033305.3(VPS13A):c.5494_5495del (p.Val1832fs)
|
|
|
NM_033305.3(VPS13A):c.5496_5497insT (p.Ile1833fs)
|
|
|
NM_033305.3(VPS13A):c.551_554del (p.Met184fs)
|
rs1825930993
|
|
NM_033305.3(VPS13A):c.5522T>A (p.Leu1841Ter)
|
|
|
NM_033305.3(VPS13A):c.5553_5557dup (p.Leu1853Ter)
|
|
|
NM_033305.3(VPS13A):c.5567T>A (p.Leu1856Ter)
|
|
|
NM_033305.3(VPS13A):c.5574+1del
|
|
|
NM_033305.3(VPS13A):c.5658del (p.Thr1887fs)
|
|
|
NM_033305.3(VPS13A):c.5696_5700del (p.Leu1899fs)
|
rs1829753665
|
|
NM_033305.3(VPS13A):c.5761C>T (p.Arg1921Ter)
|
rs1369905878
|
|
NM_033305.3(VPS13A):c.5904_5907del (p.His1968fs)
|
rs2131454714
|
|
NM_033305.3(VPS13A):c.5905dup (p.Arg1969fs)
|
|
|
NM_033305.3(VPS13A):c.5909_5910del (p.Glu1970fs)
|
rs1251833565
|
|
NM_033305.3(VPS13A):c.5935dup (p.Cys1979fs)
|
|
|
NM_033305.3(VPS13A):c.5989C>T (p.Gln1997Ter)
|
rs2131455014
|
|
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs)
|
rs781242821
|
|
NM_033305.3(VPS13A):c.6160G>T (p.Glu2054Ter)
|
|
|
NM_033305.3(VPS13A):c.6272dup (p.Ser2092fs)
|
|
|
NM_033305.3(VPS13A):c.6283del (p.Ser2095fs)
|
rs1587612257
|
|
NM_033305.3(VPS13A):c.6284C>G (p.Ser2095Ter)
|
|
|
NM_033305.3(VPS13A):c.6357C>A (p.Tyr2119Ter)
|
rs2131499119
|
|
NM_033305.3(VPS13A):c.6392C>A (p.Ser2131Ter)
|
rs1394368004
|
|
NM_033305.3(VPS13A):c.647G>A (p.Trp216Ter)
|
rs2131153571
|
|
NM_033305.3(VPS13A):c.6482_6483del (p.Leu2161fs)
|
rs2131505194
|
|
NM_033305.3(VPS13A):c.6555T>A (p.Cys2185Ter)
|
|
|
NM_033305.3(VPS13A):c.6581T>G (p.Leu2194Ter)
|
rs1830715603
|
|
NM_033305.3(VPS13A):c.6606del (p.Thr2201_Tyr2202insTer)
|
|
|
NM_033305.3(VPS13A):c.6616C>T (p.Gln2206Ter)
|
|
|
NM_033305.3(VPS13A):c.6617_6618insTA (p.Gln2206fs)
|
|
|
NM_033305.3(VPS13A):c.6633dup (p.His2212fs)
|
rs2131505712
|
|
NM_033305.3(VPS13A):c.6700C>T (p.Arg2234Ter)
|
|
|
NM_033305.3(VPS13A):c.6725del (p.Lys2242fs)
|
|
|
NM_033305.3(VPS13A):c.6741_6745del (p.Phe2248fs)
|
|
|
NM_033305.3(VPS13A):c.6792_6799dup (p.Glu2267fs)
|
|
|
NM_033305.3(VPS13A):c.6841G>T (p.Gly2281Ter)
|
rs1409058629
|
|
NM_033305.3(VPS13A):c.6876_6877del (p.Tyr2292_Gln2293delinsTer)
|
|
|
NM_033305.3(VPS13A):c.6877C>T (p.Gln2293Ter)
|
rs2131507600
|
|
NM_033305.3(VPS13A):c.6915del (p.Thr2306fs)
|
|
|
NM_033305.3(VPS13A):c.6969C>A (p.Tyr2323Ter)
|
|
|
NM_033305.3(VPS13A):c.6978_6981dup (p.Ala2328fs)
|
|
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NM_033305.3(VPS13A):c.7005G>A (p.Trp2335Ter)
|
rs1563939611
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NM_033305.3(VPS13A):c.7012_7013del (p.Ser2337_Leu2338insTer)
|
rs1563939617
|
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NM_033305.3(VPS13A):c.7035del (p.Trp2347fs)
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|
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NM_033305.3(VPS13A):c.7072C>T (p.Gln2358Ter)
|
rs981025037
|
|
NM_033305.3(VPS13A):c.7078G>T (p.Glu2360Ter)
|
|
|
NM_033305.3(VPS13A):c.7096_7112dup (p.Asn2372fs)
|
|
|
NM_033305.3(VPS13A):c.7154_7155insAGTA (p.Leu2386fs)
|
rs778985780
|
|
NM_033305.3(VPS13A):c.7155+1del
|
rs753100746
|
|
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)
|
|
|
NM_033305.3(VPS13A):c.7253del (p.Asn2418fs)
|
|
|
NM_033305.3(VPS13A):c.72dup (p.Ser25fs)
|
rs2131030226
|
|
NM_033305.3(VPS13A):c.7339dup (p.Tyr2447fs)
|
rs1419127345
|
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NM_033305.3(VPS13A):c.7347G>A (p.Trp2449Ter)
|
|
|
NM_033305.3(VPS13A):c.7369dup (p.Arg2457fs)
|
rs1831457676
|
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NM_033305.3(VPS13A):c.7486C>T (p.Gln2496Ter)
|
rs1191270963
|
|
NM_033305.3(VPS13A):c.7535_7536del (p.Thr2511_Tyr2512insTer)
|
rs2131546441
|
|
NM_033305.3(VPS13A):c.753dup (p.Val252fs)
|
|
|
NM_033305.3(VPS13A):c.7585del (p.Gln2529fs)
|
|
|
NM_033305.3(VPS13A):c.7638dup (p.Ile2547fs)
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|
|
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs)
|
rs748828128
|
|
NM_033305.3(VPS13A):c.7806G>A (p.Pro2602=)
|
|
|
NM_033305.3(VPS13A):c.7811_7814dup (p.Thr2606fs)
|
rs2131556360
|
|
NM_033305.3(VPS13A):c.78dup (p.Leu27fs)
|
rs2131030277
|
|
NM_033305.3(VPS13A):c.8046_8049del (p.Phe2683fs)
|
|
|
NM_033305.3(VPS13A):c.8115dup (p.Val2706fs)
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|
|
NM_033305.3(VPS13A):c.8243_8250del (p.Ala2747_Phe2748insTer)
|
|
|
NM_033305.3(VPS13A):c.8301del (p.Glu2767fs)
|
rs2131577839
|
|
NM_033305.3(VPS13A):c.8302del (p.Tyr2768fs)
|
|
|
NM_033305.3(VPS13A):c.8341dup (p.Ser2781fs)
|
rs2131580177
|
|
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter)
|
rs756865623
|
|
NM_033305.3(VPS13A):c.8390del (p.Gly2797fs)
|
rs748941459
|
|
NM_033305.3(VPS13A):c.8494_8495insTT (p.Tyr2832fs)
|
|
|
NM_033305.3(VPS13A):c.854_858del (p.Asn285fs)
|
rs1823102495
|
|
NM_033305.3(VPS13A):c.8563dup (p.Gln2855fs)
|
rs1832616472
|
|
NM_033305.3(VPS13A):c.8613del (p.Gly2871_Leu2872insTer)
|
|
|
NM_033305.3(VPS13A):c.8653dup (p.Tyr2885fs)
|
|
|
NM_033305.3(VPS13A):c.8656G>T (p.Glu2886Ter)
|
|
|
NM_033305.3(VPS13A):c.8664C>A (p.Tyr2888Ter)
|
rs1241810634
|
|
NM_033305.3(VPS13A):c.8724_8725dup (p.Leu2909fs)
|
|
|
NM_033305.3(VPS13A):c.8775del (p.Gly2926fs)
|
|
|
NM_033305.3(VPS13A):c.8848_8860del (p.Asn2950fs)
|
rs1832691674
|
|
NM_033305.3(VPS13A):c.8939_8942del (p.Thr2980fs)
|
rs1832712113
|
|
NM_033305.3(VPS13A):c.9068del (p.Gly3023fs)
|
rs1480778616
|
|
NM_033305.3(VPS13A):c.9087_9088del (p.Glu3029fs)
|
|
|
NM_033305.3(VPS13A):c.9094G>T (p.Glu3032Ter)
|
rs2131614102
|
|
NM_033305.3(VPS13A):c.9181_9182dup (p.Met3061fs)
|
|
|
NM_033305.3(VPS13A):c.9219C>G (p.Tyr3073Ter)
|
|
|
NM_033305.3(VPS13A):c.9251_9252del (p.Thr3084fs)
|
|
|
NM_033305.3(VPS13A):c.9253_9254del (p.Asp3085fs)
|
rs2131647728
|
|
NM_033305.3(VPS13A):c.9276-2A>C
|
|
|
NM_033305.3(VPS13A):c.9276-2A>T
|
|
|
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs)
|
rs1834577610
|
|
NM_033305.3(VPS13A):c.9343G>T (p.Glu3115Ter)
|
|
|
NM_033305.3(VPS13A):c.9349_9383dup (p.Arg3129fs)
|
rs2131654698
|
|
NM_033305.3(VPS13A):c.9353_9356dup (p.Pro3120fs)
|
|
|
NM_033305.3(VPS13A):c.9386_9387del (p.Arg3129fs)
|
|
|
NM_033305.3(VPS13A):c.9429_9432del (p.Arg3143fs)
|
rs1085307750
|
|
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs)
|
rs1085307750
|
|
NM_033305.3(VPS13A):c.952A>T (p.Lys318Ter)
|
rs1823130291
|
|
NM_033305.3(VPS13A):c.994del (p.Ala332fs)
|
rs1353432136
|
|
Single allele
|
|
|