NM_033305.3(VPS13A):c.6379-7A>T
|
rs759586753
|
0.07351
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu)
|
rs142058362
|
0.00198
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=)
|
rs145346590
|
0.00093
|
NM_033305.3(VPS13A):c.8712A>G (p.Leu2904=)
|
rs146607868
|
0.00059
|
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys)
|
rs146574121
|
0.00057
|
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=)
|
rs200387635
|
0.00046
|
NM_033305.3(VPS13A):c.188-16T>C
|
rs538417363
|
0.00039
|
NM_033305.3(VPS13A):c.8668-10G>C
|
rs371453974
|
0.00039
|
NM_033305.3(VPS13A):c.4590T>G (p.Ala1530=)
|
rs141940484
|
0.00036
|
NM_033305.3(VPS13A):c.6775-17G>A
|
rs373170406
|
0.00034
|
NM_033305.3(VPS13A):c.3508-8T>C
|
rs376751858
|
0.00031
|
NM_033305.3(VPS13A):c.2825-15A>T
|
rs370681843
|
0.00030
|
NM_033305.3(VPS13A):c.4957-17A>G
|
rs200757505
|
0.00029
|
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=)
|
rs147954757
|
0.00028
|
NM_033305.3(VPS13A):c.516G>A (p.Pro172=)
|
rs141109675
|
0.00026
|
NM_033305.3(VPS13A):c.6984T>C (p.Ala2328=)
|
rs144477984
|
0.00024
|
NM_033305.3(VPS13A):c.1158G>A (p.Leu386=)
|
rs143574886
|
0.00021
|
NM_033305.3(VPS13A):c.621C>T (p.Ile207=)
|
rs146941948
|
0.00021
|
NM_033305.3(VPS13A):c.6379-19T>G
|
rs766881111
|
0.00021
|
NM_033305.3(VPS13A):c.6558T>C (p.Val2186=)
|
rs112596608
|
0.00018
|
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile)
|
rs146158125
|
0.00017
|
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=)
|
rs552113529
|
0.00015
|
NM_033305.3(VPS13A):c.971A>G (p.His324Arg)
|
rs138568018
|
0.00014
|
NM_033305.3(VPS13A):c.126A>G (p.Gln42=)
|
rs140518771
|
0.00013
|
NM_033305.3(VPS13A):c.1638A>C (p.Pro546=)
|
rs141907906
|
0.00013
|
NM_033305.3(VPS13A):c.2496A>T (p.Pro832=)
|
rs148754839
|
0.00013
|
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)
|
rs371138709
|
0.00013
|
NM_033305.3(VPS13A):c.1785+7A>G
|
rs367906505
|
0.00011
|
NM_033305.3(VPS13A):c.699C>T (p.Asp233=)
|
rs138009035
|
0.00011
|
NM_033305.3(VPS13A):c.846G>A (p.Glu282=)
|
rs376954549
|
0.00011
|
NM_033305.3(VPS13A):c.9037A>G (p.Ile3013Val)
|
rs185663133
|
0.00011
|
NM_033305.3(VPS13A):c.2889G>A (p.Thr963=)
|
rs776098236
|
0.00010
|
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=)
|
rs372019796
|
0.00010
|
NM_033305.3(VPS13A):c.5454T>C (p.Asp1818=)
|
rs149575608
|
0.00010
|
NM_033305.3(VPS13A):c.7761T>G (p.Ser2587=)
|
rs1469426377
|
0.00010
|
NM_033305.3(VPS13A):c.1596-8T>A
|
rs764520574
|
0.00009
|
NM_033305.3(VPS13A):c.2499T>C (p.Ser833=)
|
rs372027471
|
0.00009
|
NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser)
|
rs182495915
|
0.00009
|
NM_033305.3(VPS13A):c.9475-4G>A
|
rs76198745
|
0.00009
|
NM_033305.3(VPS13A):c.2601A>G (p.Arg867=)
|
rs145624888
|
0.00008
|
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)
|
rs748876393
|
0.00008
|
NM_033305.3(VPS13A):c.3660C>T (p.Ile1220=)
|
rs779999348
|
0.00007
|
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=)
|
rs189138644
|
0.00007
|
NM_033305.3(VPS13A):c.9475-5C>T
|
rs536300138
|
0.00007
|
NM_033305.3(VPS13A):c.1269T>C (p.Asp423=)
|
rs151069489
|
0.00006
|
NM_033305.3(VPS13A):c.3600C>T (p.Leu1200=)
|
rs376174010
|
0.00006
|
NM_033305.3(VPS13A):c.4095T>C (p.Asn1365=)
|
rs558203127
|
0.00006
|
NM_033305.3(VPS13A):c.5613C>T (p.Phe1871=)
|
rs139782359
|
0.00006
|
NM_033305.3(VPS13A):c.8212-15G>A
|
rs771085531
|
0.00006
|
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=)
|
rs201517936
|
0.00006
|
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)
|
rs148458576
|
0.00006
|
NM_033305.3(VPS13A):c.2160C>T (p.Tyr720=)
|
rs748268509
|
0.00005
|
NM_033305.3(VPS13A):c.2964+5G>A
|
rs139516538
|
0.00005
|
NM_033305.3(VPS13A):c.4746A>G (p.Gln1582=)
|
rs139882278
|
0.00005
|
NM_033305.3(VPS13A):c.5844T>C (p.His1948=)
|
rs537501546
|
0.00005
|
NM_033305.3(VPS13A):c.5970C>G (p.Val1990=)
|
rs191925614
|
0.00005
|
NM_033305.3(VPS13A):c.723T>C (p.Asn241=)
|
rs749945516
|
0.00005
|
NM_033305.3(VPS13A):c.755-7T>C
|
rs377234046
|
0.00005
|
NM_033305.3(VPS13A):c.8775C>T (p.Thr2925=)
|
rs200321658
|
0.00005
|
NM_033305.3(VPS13A):c.8953+7A>G
|
rs375621860
|
0.00005
|
NM_033305.3(VPS13A):c.9105T>C (p.Ser3035=)
|
rs149474259
|
0.00005
|
NM_033305.3(VPS13A):c.100+19C>T
|
rs376153095
|
0.00004
|
NM_033305.3(VPS13A):c.141C>T (p.Ala47=)
|
rs1025656538
|
0.00004
|
NM_033305.3(VPS13A):c.303A>G (p.Leu101=)
|
rs957175708
|
0.00004
|
NM_033305.3(VPS13A):c.3119-17T>C
|
rs769271046
|
0.00004
|
NM_033305.3(VPS13A):c.3235+8A>G
|
rs763153645
|
0.00004
|
NM_033305.3(VPS13A):c.4626A>G (p.Glu1542=)
|
rs763602189
|
0.00004
|
NM_033305.3(VPS13A):c.4957-6A>G
|
rs916277295
|
0.00004
|
NM_033305.3(VPS13A):c.5466A>G (p.Glu1822=)
|
rs539417347
|
0.00004
|
NM_033305.3(VPS13A):c.5898A>G (p.Val1966=)
|
rs1042736663
|
0.00004
|
NM_033305.3(VPS13A):c.6081A>G (p.Pro2027=)
|
rs1172649876
|
0.00004
|
NM_033305.3(VPS13A):c.6234C>T (p.Leu2078=)
|
rs571822890
|
0.00004
|
NM_033305.3(VPS13A):c.6840T>C (p.His2280=)
|
rs750072063
|
0.00004
|
NM_033305.3(VPS13A):c.6891T>A (p.Thr2297=)
|
rs777929680
|
0.00004
|
NM_033305.3(VPS13A):c.7152C>T (p.Asn2384=)
|
rs755256495
|
0.00004
|
NM_033305.3(VPS13A):c.7179G>A (p.Val2393=)
|
rs779653365
|
0.00004
|
NM_033305.3(VPS13A):c.7290-4T>G
|
rs1042829625
|
0.00004
|
NM_033305.3(VPS13A):c.8046C>G (p.Pro2682=)
|
rs753580418
|
0.00004
|
NM_033305.3(VPS13A):c.8223T>C (p.Phe2741=)
|
rs774454191
|
0.00004
|
NM_033305.3(VPS13A):c.8565G>A (p.Gln2855=)
|
rs141340832
|
0.00004
|
NM_033305.3(VPS13A):c.981C>T (p.Ala327=)
|
rs368425803
|
0.00004
|
NM_033305.3(VPS13A):c.1197T>C (p.Thr399=)
|
rs760025315
|
0.00003
|
NM_033305.3(VPS13A):c.187+8A>G
|
rs1396479624
|
0.00003
|
NM_033305.3(VPS13A):c.2247A>G (p.Glu749=)
|
rs766064605
|
0.00003
|
NM_033305.3(VPS13A):c.2259C>T (p.Ala753=)
|
rs755393666
|
0.00003
|
NM_033305.3(VPS13A):c.2289-7A>G
|
rs942042782
|
0.00003
|
NM_033305.3(VPS13A):c.2541A>G (p.Pro847=)
|
rs930824912
|
0.00003
|
NM_033305.3(VPS13A):c.2676C>T (p.Ile892=)
|
rs151122313
|
0.00003
|
NM_033305.3(VPS13A):c.3606A>G (p.Gln1202=)
|
rs370572663
|
0.00003
|
NM_033305.3(VPS13A):c.4539T>C (p.Phe1513=)
|
rs143022525
|
0.00003
|
NM_033305.3(VPS13A):c.4635T>C (p.Pro1545=)
|
rs368113095
|
0.00003
|
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=)
|
rs139817600
|
0.00003
|
NM_033305.3(VPS13A):c.6051T>C (p.Thr2017=)
|
rs1201770277
|
0.00003
|
NM_033305.3(VPS13A):c.636G>C (p.Leu212=)
|
rs1017574389
|
0.00003
|
NM_033305.3(VPS13A):c.6379-8T>A
|
rs972074290
|
0.00003
|
NM_033305.3(VPS13A):c.7185G>A (p.Leu2395=)
|
rs754546678
|
0.00003
|
NM_033305.3(VPS13A):c.7278A>G (p.Gln2426=)
|
rs554457655
|
0.00003
|
NM_033305.3(VPS13A):c.7806+8T>C
|
rs747369134
|
0.00003
|
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=)
|
rs368161466
|
0.00003
|
NM_033305.3(VPS13A):c.8352C>T (p.Ser2784=)
|
rs747984632
|
0.00003
|
NM_033305.3(VPS13A):c.8725C>T (p.Leu2909=)
|
rs137866930
|
0.00003
|
NM_033305.3(VPS13A):c.8953+8T>C
|
rs368211869
|
0.00003
|
NM_033305.3(VPS13A):c.9077+8C>G
|
rs1325690140
|
0.00003
|
NM_033305.3(VPS13A):c.1011C>T (p.Gly337=)
|
rs1050278809
|
0.00002
|
NM_033305.3(VPS13A):c.1224+19A>G
|
rs374712100
|
0.00002
|
NM_033305.3(VPS13A):c.1302A>G (p.Leu434=)
|
rs776673056
|
0.00002
|
NM_033305.3(VPS13A):c.138T>C (p.Asn46=)
|
rs376952243
|
0.00002
|
NM_033305.3(VPS13A):c.1824A>G (p.Pro608=)
|
rs750307161
|
0.00002
|
NM_033305.3(VPS13A):c.2364G>A (p.Leu788=)
|
rs770433379
|
0.00002
|
NM_033305.3(VPS13A):c.2454A>G (p.Thr818=)
|
rs777234852
|
0.00002
|
NM_033305.3(VPS13A):c.3033T>C (p.His1011=)
|
rs142588824
|
0.00002
|
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=)
|
rs916979346
|
0.00002
|
NM_033305.3(VPS13A):c.3163T>C (p.Leu1055=)
|
rs545543941
|
0.00002
|
NM_033305.3(VPS13A):c.3177G>A (p.Ser1059=)
|
rs756705615
|
0.00002
|
NM_033305.3(VPS13A):c.3508-9A>G
|
rs765612230
|
0.00002
|
NM_033305.3(VPS13A):c.3912C>T (p.Tyr1304=)
|
rs752531441
|
0.00002
|
NM_033305.3(VPS13A):c.3975A>G (p.Gln1325=)
|
rs536093048
|
0.00002
|
NM_033305.3(VPS13A):c.4470G>A (p.Arg1490=)
|
rs369976472
|
0.00002
|
NM_033305.3(VPS13A):c.4530C>T (p.Ser1510=)
|
rs746350172
|
0.00002
|
NM_033305.3(VPS13A):c.4716T>C (p.Asn1572=)
|
rs748187577
|
0.00002
|
NM_033305.3(VPS13A):c.471T>C (p.Ser157=)
|
rs772957048
|
0.00002
|
NM_033305.3(VPS13A):c.5010A>G (p.Thr1670=)
|
rs765201493
|
0.00002
|
NM_033305.3(VPS13A):c.5037G>A (p.Thr1679=)
|
rs369887529
|
0.00002
|
NM_033305.3(VPS13A):c.519G>A (p.Leu173=)
|
rs766587340
|
0.00002
|
NM_033305.3(VPS13A):c.5314-10C>A
|
rs766983123
|
0.00002
|
NM_033305.3(VPS13A):c.5721T>C (p.Tyr1907=)
|
rs773977853
|
0.00002
|
NM_033305.3(VPS13A):c.6228A>G (p.Ser2076=)
|
rs767101054
|
0.00002
|
NM_033305.3(VPS13A):c.6252A>G (p.Glu2084=)
|
rs535196763
|
0.00002
|
NM_033305.3(VPS13A):c.6379-12T>G
|
rs865850464
|
0.00002
|
NM_033305.3(VPS13A):c.6393G>A (p.Ser2131=)
|
rs778412896
|
0.00002
|
NM_033305.3(VPS13A):c.6489C>T (p.His2163=)
|
rs773384343
|
0.00002
|
NM_033305.3(VPS13A):c.7027-7A>G
|
rs761096690
|
0.00002
|
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)
|
rs370401336
|
0.00002
|
NM_033305.3(VPS13A):c.7188C>T (p.Ala2396=)
|
rs747802503
|
0.00002
|
NM_033305.3(VPS13A):c.7246T>C (p.Leu2416=)
|
rs1453912435
|
0.00002
|
NM_033305.3(VPS13A):c.7290-9C>T
|
rs1257970742
|
0.00002
|
NM_033305.3(VPS13A):c.7420-4C>A
|
rs764829121
|
0.00002
|
NM_033305.3(VPS13A):c.7779G>A (p.Lys2593=)
|
rs758623988
|
0.00002
|
NM_033305.3(VPS13A):c.7807-14G>C
|
rs1554670634
|
0.00002
|
NM_033305.3(VPS13A):c.7953+7C>A
|
rs1477783159
|
0.00002
|
NM_033305.3(VPS13A):c.8019G>A (p.Ser2673=)
|
rs149390014
|
0.00002
|
NM_033305.3(VPS13A):c.8106-4A>G
|
rs1471850455
|
0.00002
|
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=)
|
rs755095881
|
0.00002
|
NM_033305.3(VPS13A):c.8211+5G>A
|
rs183316143
|
0.00002
|
NM_033305.3(VPS13A):c.8529A>G (p.Glu2843=)
|
rs1394685252
|
0.00002
|
NM_033305.3(VPS13A):c.8553+9A>G
|
rs777867962
|
0.00002
|
NM_033305.3(VPS13A):c.8667+7T>G
|
rs772455203
|
0.00002
|
NM_033305.3(VPS13A):c.8856A>G (p.Gln2952=)
|
rs763510106
|
0.00002
|
NM_033305.3(VPS13A):c.900G>A (p.Glu300=)
|
rs750958608
|
0.00002
|
NM_033305.3(VPS13A):c.903T>G (p.Leu301=)
|
rs780283172
|
0.00002
|
NM_033305.3(VPS13A):c.9366T>C (p.Ile3122=)
|
rs780859489
|
0.00002
|
NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=)
|
rs538279569
|
0.00002
|
NM_033305.3(VPS13A):c.975C>T (p.His325=)
|
rs1380654828
|
0.00002
|
NM_033305.3(VPS13A):c.1074T>C (p.His358=)
|
rs1300801498
|
0.00001
|
NM_033305.3(VPS13A):c.1122A>G (p.Thr374=)
|
rs780779111
|
0.00001
|
NM_033305.3(VPS13A):c.1161+15T>A
|
rs760705525
|
0.00001
|
NM_033305.3(VPS13A):c.1165T>C (p.Leu389=)
|
rs547171069
|
0.00001
|
NM_033305.3(VPS13A):c.1194A>T (p.Ile398=)
|
rs1405485475
|
0.00001
|
NM_033305.3(VPS13A):c.1224+7C>T
|
rs1301313314
|
0.00001
|
NM_033305.3(VPS13A):c.1225-10T>C
|
rs1215477582
|
0.00001
|
NM_033305.3(VPS13A):c.1225-7A>C
|
rs748899324
|
0.00001
|
NM_033305.3(VPS13A):c.1227A>G (p.Val409=)
|
rs1342668154
|
0.00001
|
NM_033305.3(VPS13A):c.1260A>G (p.Gly420=)
|
rs772376308
|
0.00001
|
NM_033305.3(VPS13A):c.1287G>A (p.Gly429=)
|
rs200142175
|
0.00001
|
NM_033305.3(VPS13A):c.1350A>G (p.Gln450=)
|
rs780308515
|
0.00001
|
NM_033305.3(VPS13A):c.1380T>C (p.Pro460=)
|
rs750046579
|
0.00001
|
NM_033305.3(VPS13A):c.1386A>G (p.Glu462=)
|
rs1437513368
|
0.00001
|
NM_033305.3(VPS13A):c.1413C>A (p.Gly471=)
|
rs781622106
|
0.00001
|
NM_033305.3(VPS13A):c.1443A>G (p.Leu481=)
|
rs1823580850
|
0.00001
|
NM_033305.3(VPS13A):c.1453-5C>T
|
rs1488642209
|
0.00001
|
NM_033305.3(VPS13A):c.1548A>G (p.Glu516=)
|
rs753028293
|
0.00001
|
NM_033305.3(VPS13A):c.1596-5T>C
|
rs757800423
|
0.00001
|
NM_033305.3(VPS13A):c.1596-7A>C
|
rs754256562
|
0.00001
|
NM_033305.3(VPS13A):c.1602A>G (p.Glu534=)
|
rs765708251
|
0.00001
|
NM_033305.3(VPS13A):c.1617A>G (p.Ser539=)
|
rs780368971
|
0.00001
|
NM_033305.3(VPS13A):c.1632C>T (p.Gly544=)
|
rs1315288375
|
0.00001
|
NM_033305.3(VPS13A):c.1665G>C (p.Leu555=)
|
rs760404689
|
0.00001
|
NM_033305.3(VPS13A):c.1683A>G (p.Ala561=)
|
rs777028557
|
0.00001
|
NM_033305.3(VPS13A):c.1734T>C (p.Val578=)
|
rs201027855
|
0.00001
|
NM_033305.3(VPS13A):c.1786-10A>G
|
rs773816942
|
0.00001
|
NM_033305.3(VPS13A):c.1839A>G (p.Leu613=)
|
rs1824272571
|
0.00001
|
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=)
|
rs749655544
|
0.00001
|
NM_033305.3(VPS13A):c.1968T>A (p.Ile656=)
|
rs918529816
|
0.00001
|
NM_033305.3(VPS13A):c.2142A>G (p.Thr714=)
|
rs1424295857
|
0.00001
|
NM_033305.3(VPS13A):c.2145T>C (p.Ser715=)
|
rs781229838
|
0.00001
|
NM_033305.3(VPS13A):c.2296A>G (p.Ile766Val)
|
rs576941423
|
0.00001
|
NM_033305.3(VPS13A):c.2304A>G (p.Gly768=)
|
rs764549391
|
0.00001
|
NM_033305.3(VPS13A):c.2310A>G (p.Leu770=)
|
rs1305857818
|
0.00001
|
NM_033305.3(VPS13A):c.2349A>G (p.Gln783=)
|
rs1825673435
|
0.00001
|
NM_033305.3(VPS13A):c.2428-9T>A
|
rs920701517
|
0.00001
|
NM_033305.3(VPS13A):c.243C>T (p.Ala81=)
|
rs751585852
|
0.00001
|
NM_033305.3(VPS13A):c.2640A>C (p.Thr880=)
|
rs746571518
|
0.00001
|
NM_033305.3(VPS13A):c.2668-4C>T
|
rs780925219
|
0.00001
|
NM_033305.3(VPS13A):c.2709A>C (p.Leu903=)
|
rs1256989711
|
0.00001
|
NM_033305.3(VPS13A):c.2766C>T (p.Tyr922=)
|
rs763126524
|
0.00001
|
NM_033305.3(VPS13A):c.279T>C (p.Ser93=)
|
rs949909507
|
0.00001
|
NM_033305.3(VPS13A):c.2824+9C>A
|
rs776926557
|
0.00001
|
NM_033305.3(VPS13A):c.284-4A>G
|
rs534441636
|
0.00001
|
NM_033305.3(VPS13A):c.2850G>A (p.Leu950=)
|
rs775579367
|
0.00001
|
NM_033305.3(VPS13A):c.294T>C (p.Tyr98=)
|
rs1216297064
|
0.00001
|
NM_033305.3(VPS13A):c.2997C>T (p.His999=)
|
rs1827064208
|
0.00001
|
NM_033305.3(VPS13A):c.3036T>C (p.Asn1012=)
|
rs1219346057
|
0.00001
|
NM_033305.3(VPS13A):c.3114A>G (p.Lys1038=)
|
rs1054332077
|
0.00001
|
NM_033305.3(VPS13A):c.3183A>G (p.Leu1061=)
|
rs749986857
|
0.00001
|
NM_033305.3(VPS13A):c.3189C>T (p.Ile1063=)
|
rs1180522943
|
0.00001
|
NM_033305.3(VPS13A):c.3231T>C (p.Ile1077=)
|
rs781746559
|
0.00001
|
NM_033305.3(VPS13A):c.3255T>C (p.Ile1085=)
|
rs778359537
|
0.00001
|
NM_033305.3(VPS13A):c.3339+10C>A
|
rs561212771
|
0.00001
|
NM_033305.3(VPS13A):c.3354T>C (p.Thr1118=)
|
rs1249846760
|
0.00001
|
NM_033305.3(VPS13A):c.3372C>T (p.Ser1124=)
|
rs767214865
|
0.00001
|
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=)
|
rs1274810899
|
0.00001
|
NM_033305.3(VPS13A):c.3429T>C (p.Asn1143=)
|
rs780209573
|
0.00001
|
NM_033305.3(VPS13A):c.3474A>C (p.Val1158=)
|
rs774916151
|
0.00001
|
NM_033305.3(VPS13A):c.3486G>A (p.Thr1162=)
|
rs762176805
|
0.00001
|
NM_033305.3(VPS13A):c.3495A>G (p.Leu1165=)
|
rs977841147
|
0.00001
|
NM_033305.3(VPS13A):c.3546G>A (p.Leu1182=)
|
rs756456979
|
0.00001
|
NM_033305.3(VPS13A):c.3567A>G (p.Ala1189=)
|
rs772028765
|
0.00001
|
NM_033305.3(VPS13A):c.3648A>C (p.Pro1216=)
|
rs1333986273
|
0.00001
|
NM_033305.3(VPS13A):c.3663G>A (p.Pro1221=)
|
rs746940666
|
0.00001
|
NM_033305.3(VPS13A):c.3726C>G (p.Thr1242=)
|
rs892941947
|
0.00001
|
NM_033305.3(VPS13A):c.3813-10C>G
|
rs1422738496
|
0.00001
|
NM_033305.3(VPS13A):c.3813-6T>C
|
rs1057515654
|
0.00001
|
NM_033305.3(VPS13A):c.385+10A>G
|
rs771891218
|
0.00001
|
NM_033305.3(VPS13A):c.3961-9T>C
|
rs755425018
|
0.00001
|
NM_033305.3(VPS13A):c.399G>A (p.Pro133=)
|
rs1303793041
|
0.00001
|
NM_033305.3(VPS13A):c.4003T>C (p.Leu1335=)
|
rs375759175
|
0.00001
|
NM_033305.3(VPS13A):c.4050T>C (p.Ala1350=)
|
rs767890566
|
0.00001
|
NM_033305.3(VPS13A):c.4110A>G (p.Ser1370=)
|
rs1347772644
|
0.00001
|
NM_033305.3(VPS13A):c.4164A>G (p.Leu1388=)
|
rs747910000
|
0.00001
|
NM_033305.3(VPS13A):c.4209C>T (p.Leu1403=)
|
rs1489234853
|
0.00001
|
NM_033305.3(VPS13A):c.4365C>T (p.Asn1455=)
|
rs758405641
|
0.00001
|
NM_033305.3(VPS13A):c.4398G>A (p.Lys1466=)
|
rs768241084
|
0.00001
|
NM_033305.3(VPS13A):c.4401A>G (p.Lys1467=)
|
rs1258730329
|
0.00001
|
NM_033305.3(VPS13A):c.4413-4C>T
|
rs777984395
|
0.00001
|
NM_033305.3(VPS13A):c.4569G>A (p.Glu1523=)
|
rs969408984
|
0.00001
|
NM_033305.3(VPS13A):c.4644A>G (p.Glu1548=)
|
rs765000090
|
0.00001
|
NM_033305.3(VPS13A):c.4710A>G (p.Thr1570=)
|
rs1829379290
|
0.00001
|
NM_033305.3(VPS13A):c.4794T>C (p.Ala1598=)
|
rs371356711
|
0.00001
|
NM_033305.3(VPS13A):c.4806T>C (p.Asp1602=)
|
rs201803326
|
0.00001
|
NM_033305.3(VPS13A):c.4809C>T (p.Leu1603=)
|
rs1191574832
|
0.00001
|
NM_033305.3(VPS13A):c.4827G>A (p.Pro1609=)
|
rs781553853
|
0.00001
|
NM_033305.3(VPS13A):c.4863+9A>T
|
rs749477051
|
0.00001
|
NM_033305.3(VPS13A):c.4950A>G (p.Thr1650=)
|
rs767739134
|
0.00001
|
NM_033305.3(VPS13A):c.496-6C>G
|
rs1360980576
|
0.00001
|
NM_033305.3(VPS13A):c.5013T>G (p.Thr1671=)
|
rs750583081
|
0.00001
|
NM_033305.3(VPS13A):c.5106A>G (p.Glu1702=)
|
rs1222721565
|
0.00001
|
NM_033305.3(VPS13A):c.5226A>T (p.Val1742=)
|
rs1308340529
|
0.00001
|
NM_033305.3(VPS13A):c.5523A>G (p.Leu1841=)
|
rs778617845
|
0.00001
|
NM_033305.3(VPS13A):c.5610C>T (p.Asp1870=)
|
rs1277735397
|
0.00001
|
NM_033305.3(VPS13A):c.5775T>C (p.Asn1925=)
|
rs772821076
|
0.00001
|
NM_033305.3(VPS13A):c.5790A>C (p.Ala1930=)
|
rs148449443
|
0.00001
|
NM_033305.3(VPS13A):c.5880A>G (p.Gly1960=)
|
rs1378987175
|
0.00001
|
NM_033305.3(VPS13A):c.5889G>A (p.Leu1963=)
|
rs1200437905
|
0.00001
|
NM_033305.3(VPS13A):c.5892C>T (p.Tyr1964=)
|
rs1311368421
|
0.00001
|
NM_033305.3(VPS13A):c.5916C>T (p.Gly1972=)
|
rs777794107
|
0.00001
|
NM_033305.3(VPS13A):c.6042A>G (p.Leu2014=)
|
rs536871527
|
0.00001
|
NM_033305.3(VPS13A):c.6096-9C>T
|
rs762922309
|
0.00001
|
NM_033305.3(VPS13A):c.6102C>T (p.Phe2034=)
|
rs569599272
|
0.00001
|
NM_033305.3(VPS13A):c.616-4T>C
|
rs1168753864
|
0.00001
|
NM_033305.3(VPS13A):c.616-8A>G
|
rs750602609
|
0.00001
|
NM_033305.3(VPS13A):c.6291T>C (p.Asp2097=)
|
rs531944097
|
0.00001
|
NM_033305.3(VPS13A):c.6339C>T (p.Leu2113=)
|
rs1392258447
|
0.00001
|
NM_033305.3(VPS13A):c.633C>T (p.Asn211=)
|
rs1210963659
|
0.00001
|
NM_033305.3(VPS13A):c.6366T>C (p.Ala2122=)
|
rs762107917
|
0.00001
|
NM_033305.3(VPS13A):c.6379-10T>A
|
rs1563938143
|
0.00001
|
NM_033305.3(VPS13A):c.6379-20T>G
|
rs577151483
|
0.00001
|
NM_033305.3(VPS13A):c.6379-9T>C
|
rs1563938152
|
0.00001
|
NM_033305.3(VPS13A):c.6402T>C (p.Thr2134=)
|
rs750234482
|
0.00001
|
NM_033305.3(VPS13A):c.6459A>G (p.Leu2153=)
|
rs1412838942
|
0.00001
|
NM_033305.3(VPS13A):c.645T>C (p.Tyr215=)
|
rs1826072950
|
0.00001
|
NM_033305.3(VPS13A):c.64T>C (p.Leu22=)
|
rs1360245833
|
0.00001
|
NM_033305.3(VPS13A):c.6516G>A (p.Lys2172=)
|
rs760740203
|
0.00001
|
NM_033305.3(VPS13A):c.6711A>C (p.Pro2237=)
|
rs1830722047
|
0.00001
|
NM_033305.3(VPS13A):c.6741T>C (p.Ser2247=)
|
rs772517163
|
0.00001
|
NM_033305.3(VPS13A):c.6774+7G>A
|
rs368775109
|
0.00001
|
NM_033305.3(VPS13A):c.6789A>G (p.Val2263=)
|
rs1322192543
|
0.00001
|
NM_033305.3(VPS13A):c.6843A>G (p.Gly2281=)
|
rs913576765
|
0.00001
|
NM_033305.3(VPS13A):c.6879+9A>G
|
rs1830743654
|
0.00001
|
NM_033305.3(VPS13A):c.690C>T (p.Asn230=)
|
rs779916647
|
0.00001
|
NM_033305.3(VPS13A):c.6936C>T (p.Thr2312=)
|
rs1413208235
|
0.00001
|
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=)
|
rs192942248
|
0.00001
|
NM_033305.3(VPS13A):c.7027-9A>G
|
rs1831001629
|
0.00001
|
NM_033305.3(VPS13A):c.7077C>T (p.Val2359=)
|
rs749174453
|
0.00001
|
NM_033305.3(VPS13A):c.7158T>G (p.Leu2386=)
|
rs778911778
|
0.00001
|
NM_033305.3(VPS13A):c.7191G>A (p.Glu2397=)
|
rs770178744
|
0.00001
|
NM_033305.3(VPS13A):c.7236T>C (p.Ala2412=)
|
rs1831075290
|
0.00001
|
NM_033305.3(VPS13A):c.7290-10A>G
|
rs777376932
|
0.00001
|
NM_033305.3(VPS13A):c.7332C>T (p.Ala2444=)
|
rs747089927
|
0.00001
|
NM_033305.3(VPS13A):c.755-4T>C
|
rs201607062
|
0.00001
|
NM_033305.3(VPS13A):c.755-9A>G
|
rs1202344449
|
0.00001
|
NM_033305.3(VPS13A):c.7620G>A (p.Thr2540=)
|
rs201318852
|
0.00001
|
NM_033305.3(VPS13A):c.7662G>A (p.Val2554=)
|
rs754752903
|
0.00001
|
NM_033305.3(VPS13A):c.7755T>G (p.Thr2585=)
|
rs761931557
|
0.00001
|
NM_033305.3(VPS13A):c.7794C>T (p.Asp2598=)
|
rs755960851
|
0.00001
|
NM_033305.3(VPS13A):c.7821T>C (p.Pro2607=)
|
rs774617189
|
0.00001
|
NM_033305.3(VPS13A):c.7851G>A (p.Pro2617=)
|
rs753711996
|
0.00001
|
NM_033305.3(VPS13A):c.7971T>C (p.His2657=)
|
rs761047477
|
0.00001
|
NM_033305.3(VPS13A):c.8106-9G>A
|
rs1298877792
|
0.00001
|
NM_033305.3(VPS13A):c.8130A>G (p.Glu2710=)
|
rs776080879
|
0.00001
|
NM_033305.3(VPS13A):c.819T>C (p.Ser273=)
|
rs1005038729
|
0.00001
|
NM_033305.3(VPS13A):c.8208A>G (p.Thr2736=)
|
rs1402671976
|
0.00001
|
NM_033305.3(VPS13A):c.822C>T (p.Ala274=)
|
rs534232201
|
0.00001
|
NM_033305.3(VPS13A):c.8316T>C (p.Ser2772=)
|
rs1342558043
|
0.00001
|
NM_033305.3(VPS13A):c.8325+9A>C
|
rs1236410266
|
0.00001
|
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=)
|
rs752608628
|
0.00001
|
NM_033305.3(VPS13A):c.8400A>G (p.Pro2800=)
|
rs1314964266
|
0.00001
|
NM_033305.3(VPS13A):c.8471+8T>C
|
rs752456834
|
0.00001
|
NM_033305.3(VPS13A):c.8472-8T>G
|
rs1219736649
|
0.00001
|
NM_033305.3(VPS13A):c.8478A>G (p.Ala2826=)
|
rs760521936
|
0.00001
|
NM_033305.3(VPS13A):c.8514C>T (p.Ser2838=)
|
rs1425890506
|
0.00001
|
NM_033305.3(VPS13A):c.8526T>C (p.Ser2842=)
|
rs1348232788
|
0.00001
|
NM_033305.3(VPS13A):c.8667+7T>C
|
rs772455203
|
0.00001
|
NM_033305.3(VPS13A):c.8668-7C>T
|
rs1271438682
|
0.00001
|
NM_033305.3(VPS13A):c.8703A>C (p.Gly2901=)
|
rs201871765
|
0.00001
|
NM_033305.3(VPS13A):c.8715A>G (p.Gly2905=)
|
rs1832678783
|
0.00001
|
NM_033305.3(VPS13A):c.8724A>C (p.Ala2908=)
|
rs765821271
|
0.00001
|
NM_033305.3(VPS13A):c.8796A>C (p.Val2932=)
|
rs1483230548
|
0.00001
|
NM_033305.3(VPS13A):c.8931A>C (p.Gly2977=)
|
rs1367461132
|
0.00001
|
NM_033305.3(VPS13A):c.8954-5T>C
|
rs373399887
|
0.00001
|
NM_033305.3(VPS13A):c.8954-8C>A
|
rs761958835
|
0.00001
|
NM_033305.3(VPS13A):c.9009A>C (p.Val3003=)
|
rs201865799
|
0.00001
|
NM_033305.3(VPS13A):c.9077+8C>T
|
rs1325690140
|
0.00001
|
NM_033305.3(VPS13A):c.9153C>T (p.Tyr3051=)
|
rs746787697
|
0.00001
|
NM_033305.3(VPS13A):c.9189+10G>A
|
rs920041947
|
0.00001
|
NM_033305.3(VPS13A):c.9231C>G (p.Thr3077=)
|
rs1384539437
|
0.00001
|
NM_033305.3(VPS13A):c.9234T>C (p.His3078=)
|
rs766370355
|
0.00001
|
NM_033305.3(VPS13A):c.927A>G (p.Ala309=)
|
rs749004984
|
0.00001
|
NM_033305.3(VPS13A):c.9400-8G>A
|
rs964952072
|
0.00001
|
NM_033305.3(VPS13A):c.9441A>G (p.Lys3147=)
|
rs1471538963
|
0.00001
|
NM_033305.3(VPS13A):c.945G>A (p.Arg315=)
|
rs1302687992
|
0.00001
|
NM_033305.3(VPS13A):c.9462A>G (p.Pro3154=)
|
rs1333089584
|
0.00001
|
NM_033305.3(VPS13A):c.9468T>C (p.Asp3156=)
|
rs1210856876
|
0.00001
|
NM_033305.3(VPS13A):c.9483C>G (p.Leu3161=)
|
rs1457296388
|
0.00001
|
NM_033305.3(VPS13A):c.9501A>T (p.Ala3167=)
|
rs896250515
|
0.00001
|
NM_033305.3(VPS13A):c.9513T>C (p.Ser3171=)
|
rs756208570
|
0.00001
|
NM_033305.3(VPS13A):c.9516G>A (p.Pro3172=)
|
rs370565019
|
0.00001
|
NM_033305.3(VPS13A):c.989+8C>G
|
rs763735978
|
0.00001
|
NM_033305.3(VPS13A):c.9C>T (p.Phe3=)
|
rs1823718940
|
0.00001
|
NM_033305.3(VPS13A):c.100+16C>T
|
|
|
NM_033305.3(VPS13A):c.100+20C>T
|
|
|
NM_033305.3(VPS13A):c.100+8G>C
|
rs2131030358
|
|
NM_033305.3(VPS13A):c.100+9G>C
|
|
|
NM_033305.3(VPS13A):c.100+9GCC[5]
|
rs772386985
|
|
NM_033305.3(VPS13A):c.100+9GCC[6]
|
rs772386985
|
|
NM_033305.3(VPS13A):c.1005A>C (p.Ile335=)
|
rs1564640978
|
|
NM_033305.3(VPS13A):c.101-13T>A
|
|
|
NM_033305.3(VPS13A):c.101-13T>C
|
|
|
NM_033305.3(VPS13A):c.101-17T>G
|
|
|
NM_033305.3(VPS13A):c.101-4T>C
|
|
|
NM_033305.3(VPS13A):c.101-6T>G
|
|
|
NM_033305.3(VPS13A):c.1023A>C (p.Val341=)
|
|
|
NM_033305.3(VPS13A):c.1036A>C (p.Arg346=)
|
rs1412096065
|
|
NM_033305.3(VPS13A):c.1080A>G (p.Gln360=)
|
|
|
NM_033305.3(VPS13A):c.1089G>A (p.Lys363=)
|
|
|
NM_033305.3(VPS13A):c.1095T>C (p.Tyr365=)
|
|
|
NM_033305.3(VPS13A):c.1098A>G (p.Lys366=)
|
rs758252532
|
|
NM_033305.3(VPS13A):c.1119A>G (p.Leu373=)
|
|
|
NM_033305.3(VPS13A):c.1128G>A (p.Lys376=)
|
|
|
NM_033305.3(VPS13A):c.1146T>A (p.Leu382=)
|
rs556865512
|
|
NM_033305.3(VPS13A):c.1149C>G (p.Leu383=)
|
rs1823201268
|
|
NM_033305.3(VPS13A):c.1149C>T (p.Leu383=)
|
rs1823201268
|
|
NM_033305.3(VPS13A):c.114C>T (p.Leu38=)
|
rs1825228652
|
|
NM_033305.3(VPS13A):c.1152G>T (p.Val384=)
|
rs2131180191
|
|
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=)
|
rs774931205
|
|
NM_033305.3(VPS13A):c.1161+10dup
|
|
|
NM_033305.3(VPS13A):c.1161+14A>G
|
|
|
NM_033305.3(VPS13A):c.1161+8T>C
|
|
|
NM_033305.3(VPS13A):c.1162-11A>T
|
|
|
NM_033305.3(VPS13A):c.1162-12T>C
|
|
|
NM_033305.3(VPS13A):c.1162-14T>A
|
|
|
NM_033305.3(VPS13A):c.1162-15G>A
|
|
|
NM_033305.3(VPS13A):c.1162-7T>C
|
|
|
NM_033305.3(VPS13A):c.1162-9A>G
|
rs1316475987
|
|
NM_033305.3(VPS13A):c.1170A>G (p.Glu390=)
|
rs2131193735
|
|
NM_033305.3(VPS13A):c.1176C>G (p.Thr392=)
|
rs2131193762
|
|
NM_033305.3(VPS13A):c.1176C>T (p.Thr392=)
|
|
|
NM_033305.3(VPS13A):c.1185C>T (p.Val395=)
|
rs1564644998
|
|
NM_033305.3(VPS13A):c.1215A>G (p.Ala405=)
|
|
|
NM_033305.3(VPS13A):c.1224+16T>C
|
|
|
NM_033305.3(VPS13A):c.1224+8T>C
|
|
|
NM_033305.3(VPS13A):c.1225-18A>C
|
|
|
NM_033305.3(VPS13A):c.1225-6T>C
|
|
|
NM_033305.3(VPS13A):c.1225-7A>G
|
|
|
NM_033305.3(VPS13A):c.1225-9T>C
|
rs2131195362
|
|
NM_033305.3(VPS13A):c.1230G>A (p.Lys410=)
|
rs1451055927
|
|
NM_033305.3(VPS13A):c.1236T>C (p.Ala412=)
|
rs2131195418
|
|
NM_033305.3(VPS13A):c.1257A>G (p.Glu419=)
|
rs142854769
|
|
NM_033305.3(VPS13A):c.1272A>G (p.Pro424=)
|
|
|
NM_033305.3(VPS13A):c.1296C>T (p.Ser432=)
|
rs1823527711
|
|
NM_033305.3(VPS13A):c.12G>A (p.Glu4=)
|
|
|
NM_033305.3(VPS13A):c.1300C>T (p.Leu434=)
|
|
|
NM_033305.3(VPS13A):c.1320A>G (p.Gln440=)
|
rs1404772205
|
|
NM_033305.3(VPS13A):c.132A>G (p.Lys44=)
|
|
|
NM_033305.3(VPS13A):c.1335G>A (p.Gln445=)
|
|
|
NM_033305.3(VPS13A):c.1341A>G (p.Pro447=)
|
|
|
NM_033305.3(VPS13A):c.1357+20C>T
|
|
|
NM_033305.3(VPS13A):c.1357+8C>A
|
|
|
NM_033305.3(VPS13A):c.1357+8_1357+9dup
|
|
|
NM_033305.3(VPS13A):c.1358-19A>G
|
|
|
NM_033305.3(VPS13A):c.1358-7T>C
|
rs2131198092
|
|
NM_033305.3(VPS13A):c.1359T>C (p.Thr453=)
|
rs2131198111
|
|
NM_033305.3(VPS13A):c.1380T>G (p.Pro460=)
|
rs750046579
|
|
NM_033305.3(VPS13A):c.1392T>C (p.Ala464=)
|
rs2131198187
|
|
NM_033305.3(VPS13A):c.1395A>G (p.Leu465=)
|
rs2131198195
|
|
NM_033305.3(VPS13A):c.1404A>G (p.Glu468=)
|
rs1458871797
|
|
NM_033305.3(VPS13A):c.1407A>G (p.Ala469=)
|
|
|
NM_033305.3(VPS13A):c.1410T>C (p.Ile470=)
|
rs2131198266
|
|
NM_033305.3(VPS13A):c.1416T>C (p.Tyr472=)
|
rs2131198287
|
|
NM_033305.3(VPS13A):c.141C>A (p.Ala47=)
|
|
|
NM_033305.3(VPS13A):c.142C>T (p.Leu48=)
|
|
|
NM_033305.3(VPS13A):c.1437A>T (p.Pro479=)
|
|
|
NM_033305.3(VPS13A):c.144+10G>C
|
rs2131103471
|
|
NM_033305.3(VPS13A):c.144+10G>T
|
|
|
NM_033305.3(VPS13A):c.144+14A>C
|
|
|
NM_033305.3(VPS13A):c.1444C>T (p.Leu482=)
|
|
|
NM_033305.3(VPS13A):c.145-13A>T
|
|
|
NM_033305.3(VPS13A):c.145-14A>C
|
|
|
NM_033305.3(VPS13A):c.145-19A>G
|
|
|
NM_033305.3(VPS13A):c.145-4G>C
|
|
|
NM_033305.3(VPS13A):c.145-4G>T
|
|
|
NM_033305.3(VPS13A):c.1452+14T>C
|
|
|
NM_033305.3(VPS13A):c.1452+17C>A
|
|
|
NM_033305.3(VPS13A):c.1452+7T>C
|
rs2131198387
|
|
NM_033305.3(VPS13A):c.1452+8G>A
|
rs774700890
|
|
NM_033305.3(VPS13A):c.1452+8G>C
|
rs774700890
|
|
NM_033305.3(VPS13A):c.1453-13G>A
|
|
|
NM_033305.3(VPS13A):c.1453-14T>G
|
|
|
NM_033305.3(VPS13A):c.1453-18C>A
|
|
|
NM_033305.3(VPS13A):c.1453-6C>A
|
|
|
NM_033305.3(VPS13A):c.1453-6C>T
|
|
|
NM_033305.3(VPS13A):c.1453-9A>T
|
rs1823625607
|
|
NM_033305.3(VPS13A):c.1458A>G (p.Glu486=)
|
|
|
NM_033305.3(VPS13A):c.1476C>A (p.Val492=)
|
rs778941417
|
|
NM_033305.3(VPS13A):c.1479C>T (p.His493=)
|
rs1319860231
|
|
NM_033305.3(VPS13A):c.1488T>C (p.Ser496=)
|
|
|
NM_033305.3(VPS13A):c.1497T>C (p.Ile499=)
|
|
|
NM_033305.3(VPS13A):c.150A>G (p.Gln50=)
|
|
|
NM_033305.3(VPS13A):c.1524T>A (p.Pro508=)
|
|
|
NM_033305.3(VPS13A):c.1524T>G (p.Pro508=)
|
|
|
NM_033305.3(VPS13A):c.1542A>C (p.Val514=)
|
|
|
NM_033305.3(VPS13A):c.1542A>G (p.Val514=)
|
rs2131200849
|
|
NM_033305.3(VPS13A):c.1551A>G (p.Glu517=)
|
rs764494351
|
|
NM_033305.3(VPS13A):c.1554T>C (p.Phe518=)
|
|
|
NM_033305.3(VPS13A):c.1557C>T (p.Ser519=)
|
rs2131200919
|
|
NM_033305.3(VPS13A):c.1581A>G (p.Gly527=)
|
rs757215593
|
|
NM_033305.3(VPS13A):c.1584A>G (p.Ala528=)
|
rs2131201012
|
|
NM_033305.3(VPS13A):c.1584A>T (p.Ala528=)
|
|
|
NM_033305.3(VPS13A):c.1595+10A>T
|
|
|
NM_033305.3(VPS13A):c.1595+10_1595+13del
|
|
|
NM_033305.3(VPS13A):c.1595+16T>G
|
|
|
NM_033305.3(VPS13A):c.1595+7A>G
|
rs1346322364
|
|
NM_033305.3(VPS13A):c.1595+8T>A
|
rs746034684
|
|
NM_033305.3(VPS13A):c.1596-11T>C
|
|
|
NM_033305.3(VPS13A):c.1596-16T>A
|
|
|
NM_033305.3(VPS13A):c.1596-18_1596-14del
|
|
|
NM_033305.3(VPS13A):c.1596-4G>T
|
rs1587392866
|
|
NM_033305.3(VPS13A):c.1596-6A>T
|
rs1587392849
|
|
NM_033305.3(VPS13A):c.1596-6del
|
|
|
NM_033305.3(VPS13A):c.1596-6dup
|
rs747677553
|
|
NM_033305.3(VPS13A):c.159A>G (p.Val53=)
|
rs1057515645
|
|
NM_033305.3(VPS13A):c.1617A>T (p.Ser539=)
|
rs780368971
|
|
NM_033305.3(VPS13A):c.162A>G (p.Pro54=)
|
rs2131108163
|
|
NM_033305.3(VPS13A):c.1656C>T (p.Pro552=)
|
|
|
NM_033305.3(VPS13A):c.1663C>T (p.Leu555=)
|
rs2131230619
|
|
NM_033305.3(VPS13A):c.1668T>C (p.Ser556=)
|
rs2131230642
|
|
NM_033305.3(VPS13A):c.1671A>C (p.Ser557=)
|
|
|
NM_033305.3(VPS13A):c.1672T>C (p.Leu558=)
|
|
|
NM_033305.3(VPS13A):c.1683A>C (p.Ala561=)
|
|
|
NM_033305.3(VPS13A):c.1683A>T (p.Ala561=)
|
|
|
NM_033305.3(VPS13A):c.1704A>G (p.Thr568=)
|
rs541499452
|
|
NM_033305.3(VPS13A):c.1704A>T (p.Thr568=)
|
rs541499452
|
|
NM_033305.3(VPS13A):c.1710G>A (p.Glu570=)
|
|
|
NM_033305.3(VPS13A):c.1731T>C (p.Thr577=)
|
|
|
NM_033305.3(VPS13A):c.1741A>C (p.Arg581=)
|
|
|
NM_033305.3(VPS13A):c.1749C>T (p.Ile583=)
|
rs2131230847
|
|
NM_033305.3(VPS13A):c.174A>G (p.Lys58=)
|
|
|
NM_033305.3(VPS13A):c.1755A>G (p.Glu585=)
|
|
|
NM_033305.3(VPS13A):c.1764T>C (p.Pro588=)
|
|
|
NM_033305.3(VPS13A):c.1782T>C (p.Asp594=)
|
rs955568508
|
|
NM_033305.3(VPS13A):c.1785+12T>C
|
|
|
NM_033305.3(VPS13A):c.1785+13T>A
|
|
|
NM_033305.3(VPS13A):c.1785+13T>C
|
|
|
NM_033305.3(VPS13A):c.1785+14T>A
|
rs2131231044
|
|
NM_033305.3(VPS13A):c.1785+15A>T
|
|
|
NM_033305.3(VPS13A):c.1785+16A>C
|
|
|
NM_033305.3(VPS13A):c.1785+16A>G
|
rs1016268713
|
|
NM_033305.3(VPS13A):c.1785+17A>G
|
|
|
NM_033305.3(VPS13A):c.1786-11T>C
|
|
|
NM_033305.3(VPS13A):c.1786-14G>A
|
|
|
NM_033305.3(VPS13A):c.1791A>C (p.Thr597=)
|
rs148739733
|
|
NM_033305.3(VPS13A):c.1818A>G (p.Arg606=)
|
|
|
NM_033305.3(VPS13A):c.1830G>A (p.Glu610=)
|
rs113804310
|
|
NM_033305.3(VPS13A):c.1837C>T (p.Leu613=)
|
|
|
NM_033305.3(VPS13A):c.1842A>G (p.Ala614=)
|
|
|
NM_033305.3(VPS13A):c.187+14A>G
|
|
|
NM_033305.3(VPS13A):c.187+16T>C
|
|
|
NM_033305.3(VPS13A):c.187+9T>C
|
|
|
NM_033305.3(VPS13A):c.1875A>G (p.Glu625=)
|
rs2131231483
|
|
NM_033305.3(VPS13A):c.1878A>G (p.Glu626=)
|
|
|
NM_033305.3(VPS13A):c.188-12A>C
|
|
|
NM_033305.3(VPS13A):c.188-13C>G
|
|
|
NM_033305.3(VPS13A):c.188-13dup
|
|
|
NM_033305.3(VPS13A):c.188-14C>T
|
|
|
NM_033305.3(VPS13A):c.188-5T>C
|
|
|
NM_033305.3(VPS13A):c.188-7A>T
|
|
|
NM_033305.3(VPS13A):c.1884C>T (p.Arg628=)
|
rs2131231540
|
|
NM_033305.3(VPS13A):c.1893A>C (p.Thr631=)
|
|
|
NM_033305.3(VPS13A):c.1896A>C (p.Ala632=)
|
|
|
NM_033305.3(VPS13A):c.1900+11A>G
|
|
|
NM_033305.3(VPS13A):c.1900+13A>G
|
|
|
NM_033305.3(VPS13A):c.1900+16A>G
|
|
|
NM_033305.3(VPS13A):c.1900+17A>G
|
|
|
NM_033305.3(VPS13A):c.1900+18T>C
|
|
|
NM_033305.3(VPS13A):c.1900+9C>G
|
|
|
NM_033305.3(VPS13A):c.1900+9C>T
|
rs773690202
|
|
NM_033305.3(VPS13A):c.1901-10A>G
|
rs2131259536
|
|
NM_033305.3(VPS13A):c.1901-12A>C
|
|
|
NM_033305.3(VPS13A):c.1901-17G>T
|
|
|
NM_033305.3(VPS13A):c.1901-19A>G
|
|
|
NM_033305.3(VPS13A):c.1903C>T (p.Leu635=)
|
rs2131259559
|
|
NM_033305.3(VPS13A):c.1923A>G (p.Thr641=)
|
|
|
NM_033305.3(VPS13A):c.1938T>C (p.Asp646=)
|
rs2131259638
|
|
NM_033305.3(VPS13A):c.1962A>G (p.Ser654=)
|
|
|
NM_033305.3(VPS13A):c.1974C>T (p.Val658=)
|
rs1587412408
|
|
NM_033305.3(VPS13A):c.2010G>A (p.Leu670=)
|
|
|
NM_033305.3(VPS13A):c.2010G>T (p.Leu670=)
|
|
|
NM_033305.3(VPS13A):c.2013T>C (p.Leu671=)
|
|
|
NM_033305.3(VPS13A):c.2013T>G (p.Leu671=)
|
rs2131259796
|
|
NM_033305.3(VPS13A):c.2016T>C (p.Leu672=)
|
rs1159441741
|
|
NM_033305.3(VPS13A):c.2017T>C (p.Leu673=)
|
|
|
NM_033305.3(VPS13A):c.2037+11A>G
|
|
|
NM_033305.3(VPS13A):c.2037+14_2037+16del
|
|
|
NM_033305.3(VPS13A):c.2037+15T>G
|
|
|
NM_033305.3(VPS13A):c.2037+17T>C
|
|
|
NM_033305.3(VPS13A):c.2037+18T>G
|
|
|
NM_033305.3(VPS13A):c.2037+7A>C
|
|
|
NM_033305.3(VPS13A):c.2037+7A>G
|
rs766122974
|
|
NM_033305.3(VPS13A):c.2037+8C>G
|
rs41289961
|
|
NM_033305.3(VPS13A):c.2037+8C>T
|
|
|
NM_033305.3(VPS13A):c.2037+9del
|
rs2131259874
|
|
NM_033305.3(VPS13A):c.2038-4G>A
|
rs1825070810
|
|
NM_033305.3(VPS13A):c.2038-6T>C
|
rs2131267191
|
|
NM_033305.3(VPS13A):c.2038-7C>T
|
rs1825070655
|
|
NM_033305.3(VPS13A):c.2043G>A (p.Thr681=)
|
rs1375726347
|
|
NM_033305.3(VPS13A):c.2043G>C (p.Thr681=)
|
|
|
NM_033305.3(VPS13A):c.2073G>A (p.Val691=)
|
|
|
NM_033305.3(VPS13A):c.210A>G (p.Pro70=)
|
rs1335505417
|
|
NM_033305.3(VPS13A):c.2133T>C (p.Ile711=)
|
|
|
NM_033305.3(VPS13A):c.2136A>G (p.Gln712=)
|
|
|
NM_033305.3(VPS13A):c.2139T>G (p.Leu713=)
|
rs1587418551
|
|
NM_033305.3(VPS13A):c.2151G>A (p.Gln717=)
|
|
|
NM_033305.3(VPS13A):c.2157T>A (p.Leu719=)
|
rs2131267472
|
|
NM_033305.3(VPS13A):c.2157T>G (p.Leu719=)
|
|
|
NM_033305.3(VPS13A):c.2163T>C (p.Ser721=)
|
|
|
NM_033305.3(VPS13A):c.2170+10A>C
|
|
|
NM_033305.3(VPS13A):c.2170+16A>G
|
|
|
NM_033305.3(VPS13A):c.2170+17T>G
|
|
|
NM_033305.3(VPS13A):c.2171-14T>C
|
|
|
NM_033305.3(VPS13A):c.2171-6A>C
|
|
|
NM_033305.3(VPS13A):c.2171-8G>C
|
|
|
NM_033305.3(VPS13A):c.2171-9T>C
|
rs2131271826
|
|
NM_033305.3(VPS13A):c.2172T>C (p.Gly724=)
|
rs2131271847
|
|
NM_033305.3(VPS13A):c.2175T>C (p.Asp725=)
|
|
|
NM_033305.3(VPS13A):c.2190A>G (p.Ala730=)
|
rs1564665908
|
|
NM_033305.3(VPS13A):c.219C>T (p.Asn73=)
|
rs1283058614
|
|
NM_033305.3(VPS13A):c.21C>G (p.Val7=)
|
|
|
NM_033305.3(VPS13A):c.2202T>C (p.Ser734=)
|
|
|
NM_033305.3(VPS13A):c.2211C>A (p.Thr737=)
|
rs2131271935
|
|
NM_033305.3(VPS13A):c.2229C>G (p.Pro743=)
|
|
|
NM_033305.3(VPS13A):c.2242T>C (p.Leu748=)
|
rs1587422536
|
|
NM_033305.3(VPS13A):c.2250G>A (p.Leu750=)
|
|
|
NM_033305.3(VPS13A):c.2253T>G (p.Ser751=)
|
rs937699726
|
|
NM_033305.3(VPS13A):c.2286C>G (p.Pro762=)
|
|
|
NM_033305.3(VPS13A):c.2286C>T (p.Pro762=)
|
rs1056122983
|
|
NM_033305.3(VPS13A):c.2288+10G>C
|
|
|
NM_033305.3(VPS13A):c.2288+14G>T
|
|
|
NM_033305.3(VPS13A):c.2288+17T>C
|
|
|
NM_033305.3(VPS13A):c.2288+8_2288+9del
|
rs2131272186
|
|
NM_033305.3(VPS13A):c.2288+9T>C
|
|
|
NM_033305.3(VPS13A):c.2289-14T>C
|
|
|
NM_033305.3(VPS13A):c.2289-15A>G
|
|
|
NM_033305.3(VPS13A):c.2289-19T>C
|
|
|
NM_033305.3(VPS13A):c.2289-20T>C
|
|
|
NM_033305.3(VPS13A):c.2289-8C>G
|
|
|
NM_033305.3(VPS13A):c.2295G>A (p.Lys765=)
|
rs1587439892
|
|
NM_033305.3(VPS13A):c.2308T>C (p.Leu770=)
|
|
|
NM_033305.3(VPS13A):c.2346A>G (p.Leu782=)
|
|
|
NM_033305.3(VPS13A):c.2362T>C (p.Leu788=)
|
rs748738775
|
|
NM_033305.3(VPS13A):c.2394A>G (p.Val798=)
|
|
|
NM_033305.3(VPS13A):c.2397T>C (p.Thr799=)
|
rs2131293258
|
|
NM_033305.3(VPS13A):c.2403A>G (p.Val801=)
|
|
|
NM_033305.3(VPS13A):c.2406T>G (p.Ser802=)
|
rs2131293283
|
|
NM_033305.3(VPS13A):c.2412T>C (p.Pro804=)
|
rs2131293314
|
|
NM_033305.3(VPS13A):c.2427+20T>C
|
|
|
NM_033305.3(VPS13A):c.2428-14T>A
|
|
|
NM_033305.3(VPS13A):c.2428-16A>G
|
|
|
NM_033305.3(VPS13A):c.2428-20T>A
|
|
|
NM_033305.3(VPS13A):c.2428-6T>C
|
rs2131325263
|
|
NM_033305.3(VPS13A):c.2436A>T (p.Thr812=)
|
rs2131325288
|
|
NM_033305.3(VPS13A):c.2446T>C (p.Leu816=)
|
|
|
NM_033305.3(VPS13A):c.2457A>G (p.Ser819=)
|
rs2131325353
|
|
NM_033305.3(VPS13A):c.246A>G (p.Val82=)
|
rs2131123180
|
|
NM_033305.3(VPS13A):c.2481T>C (p.Pro827=)
|
rs1264281501
|
|
NM_033305.3(VPS13A):c.2490A>G (p.Glu830=)
|
|
|
NM_033305.3(VPS13A):c.2496A>G (p.Pro832=)
|
rs148754839
|
|
NM_033305.3(VPS13A):c.2512+10A>T
|
rs2131325531
|
|
NM_033305.3(VPS13A):c.2512+7T>A
|
rs1826461999
|
|
NM_033305.3(VPS13A):c.2512+8G>T
|
rs1826462265
|
|
NM_033305.3(VPS13A):c.2512+9A>G
|
rs2131325523
|
|
NM_033305.3(VPS13A):c.2513-12T>C
|
|
|
NM_033305.3(VPS13A):c.2513-4G>A
|
|
|
NM_033305.3(VPS13A):c.2513-7A>C
|
|
|
NM_033305.3(VPS13A):c.2513-8A>G
|
rs2131330698
|
|
NM_033305.3(VPS13A):c.2544T>C (p.Cys848=)
|
|
|
NM_033305.3(VPS13A):c.2550C>G (p.Pro850=)
|
rs1826604870
|
|
NM_033305.3(VPS13A):c.2550C>T (p.Pro850=)
|
rs1826604870
|
|
NM_033305.3(VPS13A):c.2574A>G (p.Pro858=)
|
|
|
NM_033305.3(VPS13A):c.2593C>A (p.Arg865=)
|
rs766404788
|
|
NM_033305.3(VPS13A):c.2598C>G (p.Thr866=)
|
|
|
NM_033305.3(VPS13A):c.2598C>T (p.Thr866=)
|
rs2131330892
|
|
NM_033305.3(VPS13A):c.2610A>G (p.Gln870=)
|
rs369381678
|
|
NM_033305.3(VPS13A):c.2628A>C (p.Val876=)
|
|
|
NM_033305.3(VPS13A):c.2631T>C (p.Asn877=)
|
|
|
NM_033305.3(VPS13A):c.2637T>C (p.Thr879=)
|
rs978622332
|
|
NM_033305.3(VPS13A):c.2640A>G (p.Thr880=)
|
rs746571518
|
|
NM_033305.3(VPS13A):c.2664A>G (p.Pro888=)
|
|
|
NM_033305.3(VPS13A):c.2667+14T>C
|
|
|
NM_033305.3(VPS13A):c.2667+16A>G
|
|
|
NM_033305.3(VPS13A):c.2668-12T>C
|
|
|
NM_033305.3(VPS13A):c.2668-14T>C
|
|
|
NM_033305.3(VPS13A):c.2668-20C>A
|
|
|
NM_033305.3(VPS13A):c.2679G>A (p.Glu893=)
|
|
|
NM_033305.3(VPS13A):c.2688C>T (p.His896=)
|
|
|
NM_033305.3(VPS13A):c.2707C>T (p.Leu903=)
|
|
|
NM_033305.3(VPS13A):c.2709A>G (p.Leu903=)
|
rs1256989711
|
|
NM_033305.3(VPS13A):c.2721A>G (p.Glu907=)
|
rs2131332430
|
|
NM_033305.3(VPS13A):c.2727T>A (p.Leu909=)
|
rs2131332452
|
|
NM_033305.3(VPS13A):c.2733A>G (p.Leu911=)
|
rs949813058
|
|
NM_033305.3(VPS13A):c.2736A>G (p.Gly912=)
|
|
|
NM_033305.3(VPS13A):c.2739G>A (p.Leu913=)
|
rs2131332512
|
|
NM_033305.3(VPS13A):c.2769T>C (p.Asp923=)
|
rs999828125
|
|
NM_033305.3(VPS13A):c.2778A>G (p.Ala926=)
|
|
|
NM_033305.3(VPS13A):c.2784C>T (p.Ala928=)
|
|
|
NM_033305.3(VPS13A):c.2811C>T (p.Cys937=)
|
rs370173107
|
|
NM_033305.3(VPS13A):c.2821T>C (p.Leu941=)
|
rs2131332717
|
|
NM_033305.3(VPS13A):c.2824+11C>G
|
|
|
NM_033305.3(VPS13A):c.2824+13A>G
|
|
|
NM_033305.3(VPS13A):c.2824+19T>A
|
|
|
NM_033305.3(VPS13A):c.2824+20A>T
|
|
|
NM_033305.3(VPS13A):c.2824+7A>C
|
|
|
NM_033305.3(VPS13A):c.2824+7A>T
|
|
|
NM_033305.3(VPS13A):c.2825-17T>A
|
|
|
NM_033305.3(VPS13A):c.2825-20T>G
|
|
|
NM_033305.3(VPS13A):c.2829A>G (p.Glu943=)
|
|
|
NM_033305.3(VPS13A):c.283+13T>A
|
|
|
NM_033305.3(VPS13A):c.283+14A>T
|
|
|
NM_033305.3(VPS13A):c.283+9A>C
|
rs2131123321
|
|
NM_033305.3(VPS13A):c.2832C>T (p.Asn944=)
|
rs2131342454
|
|
NM_033305.3(VPS13A):c.284-15T>C
|
|
|
NM_033305.3(VPS13A):c.284-17T>C
|
|
|
NM_033305.3(VPS13A):c.284-18T>A
|
|
|
NM_033305.3(VPS13A):c.284-18T>G
|
|
|
NM_033305.3(VPS13A):c.284-7C>T
|
|
|
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=)
|
rs1826936558
|
|
NM_033305.3(VPS13A):c.2844T>G (p.Val948=)
|
rs2131342516
|
|
NM_033305.3(VPS13A):c.2853T>G (p.Val951=)
|
|
|
NM_033305.3(VPS13A):c.2856A>T (p.Thr952=)
|
|
|
NM_033305.3(VPS13A):c.2859C>T (p.Thr953=)
|
|
|
NM_033305.3(VPS13A):c.285A>G (p.Arg95=)
|
rs2131125570
|
|
NM_033305.3(VPS13A):c.2862G>T (p.Leu954=)
|
|
|
NM_033305.3(VPS13A):c.2865T>C (p.Asp955=)
|
rs2131342560
|
|
NM_033305.3(VPS13A):c.2880C>T (p.Asp960=)
|
rs1242624059
|
|
NM_033305.3(VPS13A):c.2881C>T (p.Leu961=)
|
rs1587483623
|
|
NM_033305.3(VPS13A):c.2889G>C (p.Thr963=)
|
rs776098236
|
|
NM_033305.3(VPS13A):c.2904+13_2904+15dup
|
|
|
NM_033305.3(VPS13A):c.2904+7A>C
|
|
|
NM_033305.3(VPS13A):c.2905-12C>T
|
|
|
NM_033305.3(VPS13A):c.2905-7del
|
rs2131346490
|
|
NM_033305.3(VPS13A):c.2907T>C (p.Ala969=)
|
|
|
NM_033305.3(VPS13A):c.2916T>C (p.Asn972=)
|
rs1304878961
|
|
NM_033305.3(VPS13A):c.2919A>G (p.Val973=)
|
|
|
NM_033305.3(VPS13A):c.2952A>G (p.Leu984=)
|
|
|
NM_033305.3(VPS13A):c.2961T>C (p.Ile987=)
|
|
|
NM_033305.3(VPS13A):c.2964+11A>G
|
|
|
NM_033305.3(VPS13A):c.2964+14A>G
|
|
|
NM_033305.3(VPS13A):c.2964+15T>C
|
|
|
NM_033305.3(VPS13A):c.2964+19T>C
|
|
|
NM_033305.3(VPS13A):c.2964+20T>C
|
|
|
NM_033305.3(VPS13A):c.2964+7G>A
|
rs2131346631
|
|
NM_033305.3(VPS13A):c.2965-13C>T
|
|
|
NM_033305.3(VPS13A):c.2965-16C>T
|
|
|
NM_033305.3(VPS13A):c.2965-9G>C
|
rs2131346957
|
|
NM_033305.3(VPS13A):c.2965-9G>T
|
rs2131346957
|
|
NM_033305.3(VPS13A):c.2976C>T (p.Ser992=)
|
rs2131347014
|
|
NM_033305.3(VPS13A):c.2979T>C (p.Ser993=)
|
rs2131347021
|
|
NM_033305.3(VPS13A):c.3006A>G (p.Ala1002=)
|
rs2131347087
|
|
NM_033305.3(VPS13A):c.3010C>T (p.Leu1004=)
|
|
|
NM_033305.3(VPS13A):c.3012G>A (p.Leu1004=)
|
|
|
NM_033305.3(VPS13A):c.3039C>A (p.Ile1013=)
|
rs765620878
|
|
NM_033305.3(VPS13A):c.3039C>T (p.Ile1013=)
|
|
|
NM_033305.3(VPS13A):c.3045G>T (p.Pro1015=)
|
rs11145366
|
|
NM_033305.3(VPS13A):c.3060A>G (p.Lys1020=)
|
|
|
NM_033305.3(VPS13A):c.3066C>T (p.Ala1022=)
|
rs2131347220
|
|
NM_033305.3(VPS13A):c.3072G>A (p.Val1024=)
|
rs1321998057
|
|
NM_033305.3(VPS13A):c.3072G>C (p.Val1024=)
|
rs1321998057
|
|
NM_033305.3(VPS13A):c.3118+10T>C
|
rs2131347382
|
|
NM_033305.3(VPS13A):c.3118+11T>A
|
|
|
NM_033305.3(VPS13A):c.3118+12A>T
|
|
|
NM_033305.3(VPS13A):c.3118+16A>G
|
|
|
NM_033305.3(VPS13A):c.3118+20A>G
|
|
|
NM_033305.3(VPS13A):c.3118+6_3118+7insG
|
|
|
NM_033305.3(VPS13A):c.3118+8T>G
|
rs1587487734
|
|
NM_033305.3(VPS13A):c.3118+9T>C
|
rs531720915
|
|
NM_033305.3(VPS13A):c.3119-14A>T
|
|
|
NM_033305.3(VPS13A):c.3119-17T>A
|
|
|
NM_033305.3(VPS13A):c.3119-18A>G
|
|
|
NM_033305.3(VPS13A):c.3119-19T>C
|
|
|
NM_033305.3(VPS13A):c.3129A>G (p.Leu1043=)
|
rs1350362110
|
|
NM_033305.3(VPS13A):c.3144T>C (p.Asp1048=)
|
|
|
NM_033305.3(VPS13A):c.3147C>A (p.Ile1049=)
|
rs2131349951
|
|
NM_033305.3(VPS13A):c.3147C>T (p.Ile1049=)
|
rs2131349951
|
|
NM_033305.3(VPS13A):c.3154T>C (p.Leu1052=)
|
|
|
NM_033305.3(VPS13A):c.315A>G (p.Lys105=)
|
|
|
NM_033305.3(VPS13A):c.3162T>A (p.Ile1054=)
|
rs2131349996
|
|
NM_033305.3(VPS13A):c.3165A>G (p.Leu1055=)
|
|
|
NM_033305.3(VPS13A):c.3171A>G (p.Glu1057=)
|
|
|
NM_033305.3(VPS13A):c.3172T>C (p.Leu1058=)
|
rs2131350018
|
|
NM_033305.3(VPS13A):c.3207A>G (p.Lys1069=)
|
rs747319218
|
|
NM_033305.3(VPS13A):c.3210T>C (p.Cys1070=)
|
rs1827159878
|
|
NM_033305.3(VPS13A):c.3213C>T (p.Asn1071=)
|
|
|
NM_033305.3(VPS13A):c.321C>G (p.Leu107=)
|
|
|
NM_033305.3(VPS13A):c.3235+13_3235+16del
|
|
|
NM_033305.3(VPS13A):c.3235+14A>G
|
|
|
NM_033305.3(VPS13A):c.3236-10G>A
|
|
|
NM_033305.3(VPS13A):c.3236-19C>A
|
|
|
NM_033305.3(VPS13A):c.3236-21_3236-18del
|
|
|
NM_033305.3(VPS13A):c.3236-4T>A
|
rs779504734
|
|
NM_033305.3(VPS13A):c.3236-7C>T
|
|
|
NM_033305.3(VPS13A):c.3237G>A (p.Gly1079=)
|
rs2131350329
|
|
NM_033305.3(VPS13A):c.3249G>A (p.Glu1083=)
|
rs748592365
|
|
NM_033305.3(VPS13A):c.3261G>A (p.Arg1087=)
|
|
|
NM_033305.3(VPS13A):c.3264T>C (p.Pro1088=)
|
|
|
NM_033305.3(VPS13A):c.3267A>C (p.Ser1089=)
|
rs1260781307
|
|
NM_033305.3(VPS13A):c.3276A>G (p.Glu1092=)
|
|
|
NM_033305.3(VPS13A):c.3279A>T (p.Ile1093=)
|
rs2131350395
|
|
NM_033305.3(VPS13A):c.3300A>T (p.Ile1100=)
|
rs1827168366
|
|
NM_033305.3(VPS13A):c.3312T>C (p.Asp1104=)
|
|
|
NM_033305.3(VPS13A):c.3315T>C (p.Ser1105=)
|
|
|
NM_033305.3(VPS13A):c.3318T>C (p.Asp1106=)
|
rs2131350498
|
|
NM_033305.3(VPS13A):c.3324A>T (p.Thr1108=)
|
rs2131350516
|
|
NM_033305.3(VPS13A):c.3336A>G (p.Lys1112=)
|
rs2131350551
|
|
NM_033305.3(VPS13A):c.3339+12T>C
|
|
|
NM_033305.3(VPS13A):c.3339+15A>C
|
|
|
NM_033305.3(VPS13A):c.3339+15A>G
|
|
|
NM_033305.3(VPS13A):c.3339+17T>G
|
|
|
NM_033305.3(VPS13A):c.3339+7A>G
|
|
|
NM_033305.3(VPS13A):c.3339+9T>C
|
|
|
NM_033305.3(VPS13A):c.333G>A (p.Lys111=)
|
|
|
NM_033305.3(VPS13A):c.3340-11C>G
|
|
|
NM_033305.3(VPS13A):c.3340-11C>T
|
|
|
NM_033305.3(VPS13A):c.3340-16A>G
|
|
|
NM_033305.3(VPS13A):c.3340-4T>G
|
rs2131371729
|
|
NM_033305.3(VPS13A):c.3340-7del
|
|
|
NM_033305.3(VPS13A):c.3340-9_3340-8del
|
|
|
NM_033305.3(VPS13A):c.3342T>C (p.Ala1114=)
|
|
|
NM_033305.3(VPS13A):c.3351C>T (p.Ile1117=)
|
rs766492538
|
|
NM_033305.3(VPS13A):c.3357A>C (p.Gly1119=)
|
rs759134299
|
|
NM_033305.3(VPS13A):c.3396T>C (p.Asp1132=)
|
rs2131371827
|
|
NM_033305.3(VPS13A):c.3399A>C (p.Ala1133=)
|
|
|
NM_033305.3(VPS13A):c.3414A>C (p.Ala1138=)
|
|
|
NM_033305.3(VPS13A):c.3414A>G (p.Ala1138=)
|
|
|
NM_033305.3(VPS13A):c.3414A>T (p.Ala1138=)
|
rs2131371867
|
|
NM_033305.3(VPS13A):c.3417C>T (p.Tyr1139=)
|
rs1002210810
|
|
NM_033305.3(VPS13A):c.3423T>C (p.Asp1141=)
|
rs2131371901
|
|
NM_033305.3(VPS13A):c.3444G>A (p.Gln1148=)
|
|
|
NM_033305.3(VPS13A):c.3453A>G (p.Leu1151=)
|
rs1827792991
|
|
NM_033305.3(VPS13A):c.3465C>T (p.Cys1155=)
|
|
|
NM_033305.3(VPS13A):c.3468T>C (p.Ile1156=)
|
rs774438383
|
|
NM_033305.3(VPS13A):c.3474A>G (p.Val1158=)
|
|
|
NM_033305.3(VPS13A):c.3505T>C (p.Leu1169=)
|
|
|
NM_033305.3(VPS13A):c.3507+10T>G
|
rs1486926563
|
|
NM_033305.3(VPS13A):c.3507+10_3507+14del
|
|
|
NM_033305.3(VPS13A):c.3507+13T>A
|
|
|
NM_033305.3(VPS13A):c.3507+14T>G
|
|
|
NM_033305.3(VPS13A):c.3507+16_3507+20del
|
|
|
NM_033305.3(VPS13A):c.3507+17ATT[2]
|
|
|
NM_033305.3(VPS13A):c.3508-14C>T
|
|
|
NM_033305.3(VPS13A):c.3508-16T>A
|
|
|
NM_033305.3(VPS13A):c.3508-17A>C
|
|
|
NM_033305.3(VPS13A):c.3508-20A>G
|
|
|
NM_033305.3(VPS13A):c.3508-4A>G
|
|
|
NM_033305.3(VPS13A):c.3508-9A>C
|
rs765612230
|
|
NM_033305.3(VPS13A):c.3528G>A (p.Gln1176=)
|
|
|
NM_033305.3(VPS13A):c.3540A>G (p.Gln1180=)
|
|
|
NM_033305.3(VPS13A):c.3543C>T (p.Ala1181=)
|
|
|
NM_033305.3(VPS13A):c.3558T>C (p.Thr1186=)
|
|
|
NM_033305.3(VPS13A):c.3573A>C (p.Gly1191=)
|
|
|
NM_033305.3(VPS13A):c.3573A>G (p.Gly1191=)
|
|
|
NM_033305.3(VPS13A):c.357A>G (p.Glu119=)
|
|
|
NM_033305.3(VPS13A):c.3582T>C (p.Ala1194=)
|
rs2131376193
|
|
NM_033305.3(VPS13A):c.3591A>G (p.Val1197=)
|
rs1827944313
|
|
NM_033305.3(VPS13A):c.3600C>G (p.Leu1200=)
|
rs376174010
|
|
NM_033305.3(VPS13A):c.3603A>T (p.Ala1201=)
|
rs2131376249
|
|
NM_033305.3(VPS13A):c.3607A>C (p.Arg1203=)
|
|
|
NM_033305.3(VPS13A):c.3618A>G (p.Arg1206=)
|
rs2131376288
|
|
NM_033305.3(VPS13A):c.3624A>C (p.Ala1208=)
|
rs2131376295
|
|
NM_033305.3(VPS13A):c.3625C>T (p.Leu1209=)
|
|
|
NM_033305.3(VPS13A):c.3627G>C (p.Leu1209=)
|
rs2131376307
|
|
NM_033305.3(VPS13A):c.3636C>T (p.Asn1212=)
|
rs1432686778
|
|
NM_033305.3(VPS13A):c.3642A>G (p.Lys1214=)
|
|
|
NM_033305.3(VPS13A):c.3645C>G (p.Ala1215=)
|
rs138687767
|
|
NM_033305.3(VPS13A):c.3669T>A (p.Ser1223=)
|
rs2131376421
|
|
NM_033305.3(VPS13A):c.3681A>G (p.Glu1227=)
|
rs2131376450
|
|
NM_033305.3(VPS13A):c.36C>T (p.Asn12=)
|
|
|
NM_033305.3(VPS13A):c.3705A>G (p.Gly1235=)
|
|
|
NM_033305.3(VPS13A):c.3708A>C (p.Leu1236=)
|
rs2131376475
|
|
NM_033305.3(VPS13A):c.3711T>C (p.Ile1237=)
|
|
|
NM_033305.3(VPS13A):c.3714A>C (p.Thr1238=)
|
rs769379977
|
|
NM_033305.3(VPS13A):c.3753C>T (p.Ser1251=)
|
rs759933502
|
|
NM_033305.3(VPS13A):c.3804A>G (p.Arg1268=)
|
rs527418139
|
|
NM_033305.3(VPS13A):c.3810C>T (p.Tyr1270=)
|
rs1827962346
|
|
NM_033305.3(VPS13A):c.3812+14A>T
|
|
|
NM_033305.3(VPS13A):c.3812+17T>C
|
|
|
NM_033305.3(VPS13A):c.3812+18A>G
|
|
|
NM_033305.3(VPS13A):c.3812+20A>G
|
|
|
NM_033305.3(VPS13A):c.3813-10C>T
|
rs1422738496
|
|
NM_033305.3(VPS13A):c.3813-16T>G
|
|
|
NM_033305.3(VPS13A):c.3813-4A>C
|
|
|
NM_033305.3(VPS13A):c.3813-4A>G
|
|
|
NM_033305.3(VPS13A):c.3813-4del
|
|
|
NM_033305.3(VPS13A):c.3813-8A>C
|
|
|
NM_033305.3(VPS13A):c.3813-8A>G
|
|
|
NM_033305.3(VPS13A):c.3819A>G (p.Arg1273=)
|
|
|
NM_033305.3(VPS13A):c.3834A>C (p.Ala1278=)
|
rs778637226
|
|
NM_033305.3(VPS13A):c.3834A>G (p.Ala1278=)
|
rs778637226
|
|
NM_033305.3(VPS13A):c.385+15A>T
|
|
|
NM_033305.3(VPS13A):c.3858C>A (p.Leu1286=)
|
rs2131394432
|
|
NM_033305.3(VPS13A):c.386-10G>T
|
rs1178473943
|
|
NM_033305.3(VPS13A):c.386-17A>C
|
|
|
NM_033305.3(VPS13A):c.386-4G>A
|
|
|
NM_033305.3(VPS13A):c.386-8A>G
|
rs770154538
|
|
NM_033305.3(VPS13A):c.3864A>G (p.Pro1288=)
|
rs2131394441
|
|
NM_033305.3(VPS13A):c.3889C>A (p.Arg1297=)
|
|
|
NM_033305.3(VPS13A):c.3895T>C (p.Leu1299=)
|
|
|
NM_033305.3(VPS13A):c.3927T>C (p.Cys1309=)
|
|
|
NM_033305.3(VPS13A):c.3939T>C (p.Asn1313=)
|
|
|
NM_033305.3(VPS13A):c.3954A>G (p.Pro1318=)
|
rs2131394616
|
|
NM_033305.3(VPS13A):c.3960+10T>G
|
rs1828475266
|
|
NM_033305.3(VPS13A):c.3960+18C>G
|
|
|
NM_033305.3(VPS13A):c.3960+7T>G
|
rs2131394654
|
|
NM_033305.3(VPS13A):c.3961-10T>G
|
rs2131409137
|
|
NM_033305.3(VPS13A):c.3961-13T>G
|
|
|
NM_033305.3(VPS13A):c.3961-14T>C
|
|
|
NM_033305.3(VPS13A):c.3961-16dup
|
|
|
NM_033305.3(VPS13A):c.3961-4dup
|
rs765592704
|
|
NM_033305.3(VPS13A):c.3961-6T>C
|
|
|
NM_033305.3(VPS13A):c.3961-7_3961-6insC
|
rs1587545584
|
|
NM_033305.3(VPS13A):c.3961-8_3961-6dup
|
|
|
NM_033305.3(VPS13A):c.4005G>A (p.Leu1335=)
|
|
|
NM_033305.3(VPS13A):c.4032T>C (p.Asp1344=)
|
rs2131409378
|
|
NM_033305.3(VPS13A):c.4035T>C (p.Gly1345=)
|
|
|
NM_033305.3(VPS13A):c.4044A>G (p.Ser1348=)
|
rs2131409405
|
|
NM_033305.3(VPS13A):c.4056A>C (p.Thr1352=)
|
|
|
NM_033305.3(VPS13A):c.405A>G (p.Lys135=)
|
|
|
NM_033305.3(VPS13A):c.4065A>G (p.Gln1355=)
|
rs970555193
|
|
NM_033305.3(VPS13A):c.4074C>T (p.Ala1358=)
|
|
|
NM_033305.3(VPS13A):c.4077T>G (p.Thr1359=)
|
|
|
NM_033305.3(VPS13A):c.4083A>C (p.Gly1361=)
|
|
|
NM_033305.3(VPS13A):c.4083A>T (p.Gly1361=)
|
rs904289262
|
|
NM_033305.3(VPS13A):c.4098T>C (p.Ala1366=)
|
|
|
NM_033305.3(VPS13A):c.4114+13C>T
|
|
|
NM_033305.3(VPS13A):c.4114+16C>A
|
|
|
NM_033305.3(VPS13A):c.4114+18A>G
|
|
|
NM_033305.3(VPS13A):c.4114+19A>G
|
|
|
NM_033305.3(VPS13A):c.4115-10T>A
|
rs1449705603
|
|
NM_033305.3(VPS13A):c.4115-13T>C
|
|
|
NM_033305.3(VPS13A):c.4115-13T>G
|
|
|
NM_033305.3(VPS13A):c.4115-20A>T
|
|
|
NM_033305.3(VPS13A):c.4122T>G (p.Thr1374=)
|
|
|
NM_033305.3(VPS13A):c.4146A>G (p.Glu1382=)
|
|
|
NM_033305.3(VPS13A):c.4179A>T (p.Thr1393=)
|
|
|
NM_033305.3(VPS13A):c.4180C>T (p.Leu1394=)
|
|
|
NM_033305.3(VPS13A):c.4182A>G (p.Leu1394=)
|
|
|
NM_033305.3(VPS13A):c.4185C>T (p.Asn1395=)
|
rs773982653
|
|
NM_033305.3(VPS13A):c.4191C>T (p.Ser1397=)
|
|
|
NM_033305.3(VPS13A):c.4212C>T (p.Thr1404=)
|
|
|
NM_033305.3(VPS13A):c.4230A>C (p.Pro1410=)
|
rs2131426290
|
|
NM_033305.3(VPS13A):c.4242+18A>T
|
|
|
NM_033305.3(VPS13A):c.4242+7C>A
|
|
|
NM_033305.3(VPS13A):c.4242+7C>T
|
|
|
NM_033305.3(VPS13A):c.4243-16G>A
|
|
|
NM_033305.3(VPS13A):c.4243-18T>G
|
|
|
NM_033305.3(VPS13A):c.4243-20G>A
|
|
|
NM_033305.3(VPS13A):c.4243-4A>G
|
rs2131427457
|
|
NM_033305.3(VPS13A):c.4243-5C>G
|
|
|
NM_033305.3(VPS13A):c.4243-7T>C
|
|
|
NM_033305.3(VPS13A):c.4243-9C>T
|
rs762181071
|
|
NM_033305.3(VPS13A):c.4245T>A (p.Ala1415=)
|
|
|
NM_033305.3(VPS13A):c.4245T>C (p.Ala1415=)
|
rs773625189
|
|
NM_033305.3(VPS13A):c.4260T>C (p.Val1420=)
|
rs2131427514
|
|
NM_033305.3(VPS13A):c.4269T>G (p.Pro1423=)
|
rs2131427548
|
|
NM_033305.3(VPS13A):c.42C>T (p.Phe14=)
|
rs2131030100
|
|
NM_033305.3(VPS13A):c.4314T>C (p.Thr1438=)
|
rs2131427638
|
|
NM_033305.3(VPS13A):c.4315T>C (p.Leu1439=)
|
rs2131427648
|
|
NM_033305.3(VPS13A):c.4329A>G (p.Thr1443=)
|
|
|
NM_033305.3(VPS13A):c.4347T>A (p.Ser1449=)
|
|
|
NM_033305.3(VPS13A):c.4350C>T (p.Ser1450=)
|
|
|
NM_033305.3(VPS13A):c.4356A>G (p.Ser1452=)
|
|
|
NM_033305.3(VPS13A):c.4383A>G (p.Lys1461=)
|
rs1235873151
|
|
NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=)
|
rs1829282039
|
|
NM_033305.3(VPS13A):c.4412+10G>A
|
|
|
NM_033305.3(VPS13A):c.4412+12A>G
|
|
|
NM_033305.3(VPS13A):c.4412+14T>A
|
|
|
NM_033305.3(VPS13A):c.4412+17T>C
|
|
|
NM_033305.3(VPS13A):c.4413-13T>C
|
|
|
NM_033305.3(VPS13A):c.4413-14A>G
|
|
|
NM_033305.3(VPS13A):c.4413-17_4413-15del
|
|
|
NM_033305.3(VPS13A):c.4413-20G>A
|
|
|
NM_033305.3(VPS13A):c.4413-9G>A
|
|
|
NM_033305.3(VPS13A):c.4413-9G>T
|
rs1829320460
|
|
NM_033305.3(VPS13A):c.441C>A (p.Ile147=)
|
rs1192258037
|
|
NM_033305.3(VPS13A):c.4425G>A (p.Leu1475=)
|
|
|
NM_033305.3(VPS13A):c.4425G>C (p.Leu1475=)
|
rs2131429872
|
|
NM_033305.3(VPS13A):c.4425G>T (p.Leu1475=)
|
rs2131429872
|
|
NM_033305.3(VPS13A):c.4485T>C (p.Gly1495=)
|
|
|
NM_033305.3(VPS13A):c.4491G>T (p.Val1497=)
|
rs1829324081
|
|
NM_033305.3(VPS13A):c.4497T>C (p.Asp1499=)
|
|
|
NM_033305.3(VPS13A):c.4500G>A (p.Ala1500=)
|
|
|
NM_033305.3(VPS13A):c.4506T>C (p.Phe1502=)
|
|
|
NM_033305.3(VPS13A):c.4521T>C (p.Ile1507=)
|
|
|
NM_033305.3(VPS13A):c.4533A>G (p.Val1511=)
|
|
|
NM_033305.3(VPS13A):c.4533A>T (p.Val1511=)
|
rs2131430266
|
|
NM_033305.3(VPS13A):c.4536A>G (p.Glu1512=)
|
rs2131430274
|
|
NM_033305.3(VPS13A):c.4545G>A (p.Gln1515=)
|
|
|
NM_033305.3(VPS13A):c.4548T>G (p.Thr1516=)
|
|
|
NM_033305.3(VPS13A):c.4590T>C (p.Ala1530=)
|
rs141940484
|
|
NM_033305.3(VPS13A):c.4599C>G (p.Thr1533=)
|
|
|
NM_033305.3(VPS13A):c.4599C>T (p.Thr1533=)
|
rs759455987
|
|
NM_033305.3(VPS13A):c.4605G>A (p.Val1535=)
|
|
|
NM_033305.3(VPS13A):c.4608A>G (p.Gln1536=)
|
|
|
NM_033305.3(VPS13A):c.4611A>G (p.Thr1537=)
|
|
|
NM_033305.3(VPS13A):c.4620T>C (p.Ala1540=)
|
rs755677740
|
|
NM_033305.3(VPS13A):c.4623G>A (p.Lys1541=)
|
rs2131430525
|
|
NM_033305.3(VPS13A):c.4630+14T>C
|
|
|
NM_033305.3(VPS13A):c.4630+17A>C
|
|
|
NM_033305.3(VPS13A):c.4630+18A>G
|
|
|
NM_033305.3(VPS13A):c.4630+9T>C
|
rs562486464
|
|
NM_033305.3(VPS13A):c.4631-11A>G
|
|
|
NM_033305.3(VPS13A):c.4631-19C>A
|
|
|
NM_033305.3(VPS13A):c.4653G>A (p.Lys1551=)
|
rs1230725988
|
|
NM_033305.3(VPS13A):c.4680T>C (p.Asn1560=)
|
rs1829376398
|
|
NM_033305.3(VPS13A):c.468C>T (p.Ser156=)
|
rs1825854003
|
|
NM_033305.3(VPS13A):c.4722T>A (p.Ala1574=)
|
|
|
NM_033305.3(VPS13A):c.4722T>G (p.Ala1574=)
|
rs1213077949
|
|
NM_033305.3(VPS13A):c.4731A>G (p.Leu1577=)
|
rs1010424351
|
|
NM_033305.3(VPS13A):c.4737T>C (p.Ile1579=)
|
rs2131432885
|
|
NM_033305.3(VPS13A):c.4755T>C (p.Ile1585=)
|
|
|
NM_033305.3(VPS13A):c.4785A>C (p.Thr1595=)
|
rs2131433061
|
|
NM_033305.3(VPS13A):c.4797C>A (p.Ala1599=)
|
|
|
NM_033305.3(VPS13A):c.4797C>T (p.Ala1599=)
|
rs2131433092
|
|
NM_033305.3(VPS13A):c.4809C>G (p.Leu1603=)
|
|
|
NM_033305.3(VPS13A):c.4821C>T (p.Ala1607=)
|
rs1488009693
|
|
NM_033305.3(VPS13A):c.4833T>G (p.Leu1611=)
|
rs2131433199
|
|
NM_033305.3(VPS13A):c.4836A>T (p.Pro1612=)
|
rs2131433211
|
|
NM_033305.3(VPS13A):c.4839C>A (p.Val1613=)
|
|
|
NM_033305.3(VPS13A):c.4839C>T (p.Val1613=)
|
rs2131433217
|
|
NM_033305.3(VPS13A):c.4842G>A (p.Lys1614=)
|
rs752782186
|
|
NM_033305.3(VPS13A):c.4854A>G (p.Lys1618=)
|
rs2131433251
|
|
NM_033305.3(VPS13A):c.4860T>C (p.Thr1620=)
|
rs2131433270
|
|
NM_033305.3(VPS13A):c.4863+10C>T
|
rs2131433299
|
|
NM_033305.3(VPS13A):c.4863+12A>G
|
|
|
NM_033305.3(VPS13A):c.4863+16G>A
|
|
|
NM_033305.3(VPS13A):c.4863+19C>T
|
|
|
NM_033305.3(VPS13A):c.4864-12T>C
|
|
|
NM_033305.3(VPS13A):c.4864-16G>A
|
|
|
NM_033305.3(VPS13A):c.4864-20T>C
|
|
|
NM_033305.3(VPS13A):c.4864-4A>G
|
|
|
NM_033305.3(VPS13A):c.4864-4A>T
|
rs768019151
|
|
NM_033305.3(VPS13A):c.4864-7C>G
|
|
|
NM_033305.3(VPS13A):c.4864-7C>T
|
rs759849795
|
|
NM_033305.3(VPS13A):c.4872G>A (p.Gln1624=)
|
|
|
NM_033305.3(VPS13A):c.4887T>C (p.Phe1629=)
|
rs1442574602
|
|
NM_033305.3(VPS13A):c.4893A>G (p.Gln1631=)
|
|
|
NM_033305.3(VPS13A):c.4899T>C (p.Thr1633=)
|
rs777823793
|
|
NM_033305.3(VPS13A):c.4920A>G (p.Gln1640=)
|
|
|
NM_033305.3(VPS13A):c.4926C>A (p.Ile1642=)
|
|
|
NM_033305.3(VPS13A):c.4926C>T (p.Ile1642=)
|
rs199860034
|
|
NM_033305.3(VPS13A):c.492T>C (p.Asp164=)
|
rs2131140562
|
|
NM_033305.3(VPS13A):c.4935A>G (p.Ser1645=)
|
|
|
NM_033305.3(VPS13A):c.4941A>G (p.Lys1647=)
|
|
|
NM_033305.3(VPS13A):c.4945C>T (p.Leu1649=)
|
|
|
NM_033305.3(VPS13A):c.495+12A>C
|
|
|
NM_033305.3(VPS13A):c.495+12A>T
|
|
|
NM_033305.3(VPS13A):c.495+14T>C
|
|
|
NM_033305.3(VPS13A):c.495+15A>G
|
|
|
NM_033305.3(VPS13A):c.495+15_495+16del
|
|
|
NM_033305.3(VPS13A):c.4953A>G (p.Leu1651=)
|
rs2131437581
|
|
NM_033305.3(VPS13A):c.4956+10A>G
|
|
|
NM_033305.3(VPS13A):c.4956+18C>A
|
|
|
NM_033305.3(VPS13A):c.4956+18C>T
|
|
|
NM_033305.3(VPS13A):c.4956+7T>G
|
rs1829483045
|
|
NM_033305.3(VPS13A):c.4957-10T>C
|
|
|
NM_033305.3(VPS13A):c.4957-17_4957-14del
|
|
|
NM_033305.3(VPS13A):c.4957-19_4957-17del
|
|
|
NM_033305.3(VPS13A):c.4957-7C>A
|
|
|
NM_033305.3(VPS13A):c.4957-8C>T
|
|
|
NM_033305.3(VPS13A):c.4959T>G (p.Val1653=)
|
rs2131439294
|
|
NM_033305.3(VPS13A):c.496-12T>G
|
|
|
NM_033305.3(VPS13A):c.496-14del
|
|
|
NM_033305.3(VPS13A):c.496-8C>G
|
|
|
NM_033305.3(VPS13A):c.496-9C>A
|
|
|
NM_033305.3(VPS13A):c.496-9C>T
|
rs370541609
|
|
NM_033305.3(VPS13A):c.4998A>G (p.Ser1666=)
|
rs762435915
|
|
NM_033305.3(VPS13A):c.5019A>G (p.Glu1673=)
|
|
|
NM_033305.3(VPS13A):c.501A>C (p.Thr167=)
|
|
|
NM_033305.3(VPS13A):c.5022C>T (p.Thr1674=)
|
|
|
NM_033305.3(VPS13A):c.5028A>G (p.Pro1676=)
|
|
|
NM_033305.3(VPS13A):c.5040T>C (p.Ala1680=)
|
rs2131439545
|
|
NM_033305.3(VPS13A):c.5049T>G (p.Thr1683=)
|
|
|
NM_033305.3(VPS13A):c.5052A>C (p.Ala1684=)
|
rs1405658306
|
|
NM_033305.3(VPS13A):c.5070G>A (p.Lys1690=)
|
|
|
NM_033305.3(VPS13A):c.5100T>G (p.Leu1700=)
|
|
|
NM_033305.3(VPS13A):c.5115A>G (p.Glu1705=)
|
rs768989673
|
|
NM_033305.3(VPS13A):c.5118T>A (p.Thr1706=)
|
|
|
NM_033305.3(VPS13A):c.5124A>G (p.Lys1708=)
|
|
|
NM_033305.3(VPS13A):c.5136A>G (p.Thr1712=)
|
|
|
NM_033305.3(VPS13A):c.5143T>C (p.Leu1715=)
|
rs2131439945
|
|
NM_033305.3(VPS13A):c.5148A>G (p.Val1716=)
|
|
|
NM_033305.3(VPS13A):c.5151C>G (p.Pro1717=)
|
rs2131439972
|
|
NM_033305.3(VPS13A):c.5160G>A (p.Glu1720=)
|
rs1487264324
|
|
NM_033305.3(VPS13A):c.5175C>T (p.Asn1725=)
|
rs375399262
|
|
NM_033305.3(VPS13A):c.5196T>A (p.Val1732=)
|
|
|
NM_033305.3(VPS13A):c.519G>C (p.Leu173=)
|
rs766587340
|
|
NM_033305.3(VPS13A):c.5202G>A (p.Glu1734=)
|
|
|
NM_033305.3(VPS13A):c.5205T>C (p.Ala1735=)
|
|
|
NM_033305.3(VPS13A):c.5208A>C (p.Gly1736=)
|
|
|
NM_033305.3(VPS13A):c.5208A>G (p.Gly1736=)
|
|
|
NM_033305.3(VPS13A):c.5211T>A (p.Ile1737=)
|
|
|
NM_033305.3(VPS13A):c.5226A>G (p.Val1742=)
|
rs1308340529
|
|
NM_033305.3(VPS13A):c.5236C>T (p.Leu1746=)
|
|
|
NM_033305.3(VPS13A):c.5238G>A (p.Leu1746=)
|
|
|
NM_033305.3(VPS13A):c.5256A>G (p.Ser1752=)
|
rs2131440363
|
|
NM_033305.3(VPS13A):c.5262A>G (p.Glu1754=)
|
rs2131440402
|
|
NM_033305.3(VPS13A):c.5292G>C (p.Leu1764=)
|
|
|
NM_033305.3(VPS13A):c.5313+13T>G
|
|
|
NM_033305.3(VPS13A):c.5313+15C>T
|
|
|
NM_033305.3(VPS13A):c.5313+17A>G
|
|
|
NM_033305.3(VPS13A):c.5313+18G>C
|
|
|
NM_033305.3(VPS13A):c.5313+18G>T
|
|
|
NM_033305.3(VPS13A):c.5313+7A>G
|
rs751128331
|
|
NM_033305.3(VPS13A):c.5313+7A>T
|
rs751128331
|
|
NM_033305.3(VPS13A):c.5313+9A>G
|
|
|
NM_033305.3(VPS13A):c.5314-10C>G
|
|
|
NM_033305.3(VPS13A):c.5314-10C>T
|
|
|
NM_033305.3(VPS13A):c.5314-18A>T
|
|
|
NM_033305.3(VPS13A):c.5314-19T>A
|
|
|
NM_033305.3(VPS13A):c.5314-4G>A
|
|
|
NM_033305.3(VPS13A):c.5314-4G>C
|
rs755788493
|
|
NM_033305.3(VPS13A):c.5314-5T>C
|
|
|
NM_033305.3(VPS13A):c.531T>A (p.Ile177=)
|
rs774869789
|
|
NM_033305.3(VPS13A):c.5331A>G (p.Glu1777=)
|
rs1257062251
|
|
NM_033305.3(VPS13A):c.5343A>G (p.Val1781=)
|
|
|
NM_033305.3(VPS13A):c.534C>T (p.Ser178=)
|
|
|
NM_033305.3(VPS13A):c.5358T>G (p.Leu1786=)
|
rs2131443858
|
|
NM_033305.3(VPS13A):c.5364C>G (p.Pro1788=)
|
rs1180279422
|
|
NM_033305.3(VPS13A):c.5394A>G (p.Arg1798=)
|
rs1469118755
|
|
NM_033305.3(VPS13A):c.5397A>G (p.Pro1799=)
|
rs752207144
|
|
NM_033305.3(VPS13A):c.540A>G (p.Gln180=)
|
|
|
NM_033305.3(VPS13A):c.5415+10T>C
|
|
|
NM_033305.3(VPS13A):c.5415+11A>T
|
|
|
NM_033305.3(VPS13A):c.5415+13A>C
|
|
|
NM_033305.3(VPS13A):c.5415+19A>G
|
|
|
NM_033305.3(VPS13A):c.5415+19_5415+20del
|
|
|
NM_033305.3(VPS13A):c.5415+20T>C
|
|
|
NM_033305.3(VPS13A):c.5415+20TG[4]
|
|
|
NM_033305.3(VPS13A):c.5416-11T>C
|
|
|
NM_033305.3(VPS13A):c.5416-15G>A
|
|
|
NM_033305.3(VPS13A):c.5416-17A>G
|
|
|
NM_033305.3(VPS13A):c.5416-18T>C
|
|
|
NM_033305.3(VPS13A):c.5416-7A>G
|
|
|
NM_033305.3(VPS13A):c.5416-9T>C
|
|
|
NM_033305.3(VPS13A):c.543T>C (p.Asn181=)
|
|
|
NM_033305.3(VPS13A):c.5442T>C (p.Ile1814=)
|
|
|
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=)
|
rs1829726014
|
|
NM_033305.3(VPS13A):c.5487T>C (p.Tyr1829=)
|
rs2131448349
|
|
NM_033305.3(VPS13A):c.5505C>T (p.Phe1835=)
|
|
|
NM_033305.3(VPS13A):c.5511A>C (p.Ser1837=)
|
rs2131448420
|
|
NM_033305.3(VPS13A):c.5517C>T (p.Asp1839=)
|
rs2131448452
|
|
NM_033305.3(VPS13A):c.5520A>G (p.Gln1840=)
|
rs1484656471
|
|
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=)
|
rs370144264
|
|
NM_033305.3(VPS13A):c.5532A>G (p.Thr1844=)
|
rs370144264
|
|
NM_033305.3(VPS13A):c.5532A>T (p.Thr1844=)
|
rs370144264
|
|
NM_033305.3(VPS13A):c.555+13T>C
|
|
|
NM_033305.3(VPS13A):c.555+14A>C
|
|
|
NM_033305.3(VPS13A):c.555+14A>G
|
|
|
NM_033305.3(VPS13A):c.555+18G>A
|
|
|
NM_033305.3(VPS13A):c.555+19A>C
|
|
|
NM_033305.3(VPS13A):c.555+20A>C
|
|
|
NM_033305.3(VPS13A):c.5559A>G (p.Leu1853=)
|
rs2131448580
|
|
NM_033305.3(VPS13A):c.556-18del
|
|
|
NM_033305.3(VPS13A):c.556-20T>C
|
|
|
NM_033305.3(VPS13A):c.556-8dup
|
rs755223567
|
|
NM_033305.3(VPS13A):c.5562C>T (p.Asn1854=)
|
rs2131448587
|
|
NM_033305.3(VPS13A):c.5574+12A>C
|
|
|
NM_033305.3(VPS13A):c.5574+13A>T
|
|
|
NM_033305.3(VPS13A):c.5574+15T>C
|
|
|
NM_033305.3(VPS13A):c.5574+20A>G
|
|
|
NM_033305.3(VPS13A):c.5574+9dup
|
rs2131448647
|
|
NM_033305.3(VPS13A):c.5575-18A>G
|
|
|
NM_033305.3(VPS13A):c.5575-19C>T
|
|
|
NM_033305.3(VPS13A):c.5575-4T>C
|
rs1829747353
|
|
NM_033305.3(VPS13A):c.5575-6T>C
|
|
|
NM_033305.3(VPS13A):c.5575-8C>T
|
rs1829747225
|
|
NM_033305.3(VPS13A):c.5575-9T>C
|
rs1829747100
|
|
NM_033305.3(VPS13A):c.558A>G (p.Thr186=)
|
rs1251512982
|
|
NM_033305.3(VPS13A):c.5598A>G (p.Gly1866=)
|
rs1283548917
|
|
NM_033305.3(VPS13A):c.5604A>G (p.Ser1868=)
|
rs2131449461
|
|
NM_033305.3(VPS13A):c.5616A>G (p.Val1872=)
|
|
|
NM_033305.3(VPS13A):c.5622T>C (p.Asp1874=)
|
|
|
NM_033305.3(VPS13A):c.5623C>T (p.Leu1875=)
|
|
|
NM_033305.3(VPS13A):c.5628A>G (p.Ala1876=)
|
|
|
NM_033305.3(VPS13A):c.5631A>G (p.Pro1877=)
|
rs2131449606
|
|
NM_033305.3(VPS13A):c.5664T>C (p.Ile1888=)
|
rs2131449706
|
|
NM_033305.3(VPS13A):c.5673G>T (p.Ser1891=)
|
|
|
NM_033305.3(VPS13A):c.5697C>G (p.Leu1899=)
|
|
|
NM_033305.3(VPS13A):c.5700C>T (p.Asn1900=)
|
rs984381701
|
|
NM_033305.3(VPS13A):c.5703T>C (p.Ile1901=)
|
|
|
NM_033305.3(VPS13A):c.570C>T (p.Tyr190=)
|
|
|
NM_033305.3(VPS13A):c.5715A>G (p.Lys1905=)
|
rs2131450084
|
|
NM_033305.3(VPS13A):c.5718A>G (p.Ser1906=)
|
|
|
NM_033305.3(VPS13A):c.5739A>G (p.Glu1913=)
|
|
|
NM_033305.3(VPS13A):c.576T>A (p.Val192=)
|
|
|
NM_033305.3(VPS13A):c.5784C>T (p.Phe1928=)
|
rs1564727473
|
|
NM_033305.3(VPS13A):c.579A>G (p.Pro193=)
|
rs2131152544
|
|
NM_033305.3(VPS13A):c.5814C>T (p.Leu1938=)
|
|
|
NM_033305.3(VPS13A):c.5817C>T (p.Phe1939=)
|
|
|
NM_033305.3(VPS13A):c.5826T>G (p.Leu1942=)
|
rs2131450519
|
|
NM_033305.3(VPS13A):c.5830+10T>C
|
|
|
NM_033305.3(VPS13A):c.5830+12A>G
|
|
|
NM_033305.3(VPS13A):c.5830+15A>G
|
|
|
NM_033305.3(VPS13A):c.5830+16A>G
|
|
|
NM_033305.3(VPS13A):c.5830+18del
|
|
|
NM_033305.3(VPS13A):c.5830+19A>G
|
|
|
NM_033305.3(VPS13A):c.5830+7A>T
|
|
|
NM_033305.3(VPS13A):c.5830+8G>C
|
|
|
NM_033305.3(VPS13A):c.5831-10C>T
|
|
|
NM_033305.3(VPS13A):c.5831-10_5831-7del
|
|
|
NM_033305.3(VPS13A):c.5831-11A>G
|
|
|
NM_033305.3(VPS13A):c.5831-11dup
|
|
|
NM_033305.3(VPS13A):c.5831-15A>T
|
|
|
NM_033305.3(VPS13A):c.5831-7_5831-4del
|
rs2131454504
|
|
NM_033305.3(VPS13A):c.5835T>A (p.Pro1945=)
|
|
|
NM_033305.3(VPS13A):c.5859G>A (p.Lys1953=)
|
rs1241227691
|
|
NM_033305.3(VPS13A):c.5865T>A (p.Pro1955=)
|
rs1829834727
|
|
NM_033305.3(VPS13A):c.5868A>G (p.Leu1956=)
|
rs2131454614
|
|
NM_033305.3(VPS13A):c.5880A>T (p.Gly1960=)
|
|
|
NM_033305.3(VPS13A):c.5895T>C (p.Thr1965=)
|
|
|
NM_033305.3(VPS13A):c.5910G>A (p.Glu1970=)
|
|
|
NM_033305.3(VPS13A):c.5923A>C (p.Arg1975=)
|
rs756768950
|
|
NM_033305.3(VPS13A):c.5928T>G (p.Ser1976=)
|
rs1178123414
|
|
NM_033305.3(VPS13A):c.5937T>C (p.Cys1979=)
|
|
|
NM_033305.3(VPS13A):c.5940A>G (p.Gln1980=)
|
|
|
NM_033305.3(VPS13A):c.5943T>C (p.Ile1981=)
|
rs2131454823
|
|
NM_033305.3(VPS13A):c.5946T>C (p.Asp1982=)
|
|
|
NM_033305.3(VPS13A):c.5949A>T (p.Thr1983=)
|
|
|
NM_033305.3(VPS13A):c.5970C>T (p.Val1990=)
|
|
|
NM_033305.3(VPS13A):c.5982C>T (p.Ser1994=)
|
|
|
NM_033305.3(VPS13A):c.5985A>C (p.Pro1995=)
|
|
|
NM_033305.3(VPS13A):c.5991+10G>T
|
|
|
NM_033305.3(VPS13A):c.5991+13del
|
|
|
NM_033305.3(VPS13A):c.5991+14A>G
|
|
|
NM_033305.3(VPS13A):c.5991+15A>C
|
|
|
NM_033305.3(VPS13A):c.5991+15A>G
|
|
|
NM_033305.3(VPS13A):c.5991+15A>T
|
|
|
NM_033305.3(VPS13A):c.5991+9T>C
|
rs2131455065
|
|
NM_033305.3(VPS13A):c.5992-17T>C
|
|
|
NM_033305.3(VPS13A):c.5992-4C>G
|
|
|
NM_033305.3(VPS13A):c.5992-5C>T
|
|
|
NM_033305.3(VPS13A):c.5992-6T>C
|
|
|
NM_033305.3(VPS13A):c.5992-7T>C
|
|
|
NM_033305.3(VPS13A):c.5992-8T>C
|
rs2131480789
|
|
NM_033305.3(VPS13A):c.6009A>G (p.Ser2003=)
|
|
|
NM_033305.3(VPS13A):c.6012C>T (p.Val2004=)
|
|
|
NM_033305.3(VPS13A):c.6015A>G (p.Pro2005=)
|
|
|
NM_033305.3(VPS13A):c.6015A>T (p.Pro2005=)
|
|
|
NM_033305.3(VPS13A):c.6018G>A (p.Leu2006=)
|
rs201300715
|
|
NM_033305.3(VPS13A):c.6018G>C (p.Leu2006=)
|
rs201300715
|
|
NM_033305.3(VPS13A):c.6018G>T (p.Leu2006=)
|
|
|
NM_033305.3(VPS13A):c.6039C>G (p.Thr2013=)
|
rs528628591
|
|
NM_033305.3(VPS13A):c.6040T>C (p.Leu2014=)
|
rs749897526
|
|
NM_033305.3(VPS13A):c.6048A>G (p.Gly2016=)
|
|
|
NM_033305.3(VPS13A):c.6057A>G (p.Ser2019=)
|
|
|
NM_033305.3(VPS13A):c.6060T>C (p.Pro2020=)
|
rs1587601155
|
|
NM_033305.3(VPS13A):c.606G>A (p.Leu202=)
|
rs1826055926
|
|
NM_033305.3(VPS13A):c.606G>C (p.Leu202=)
|
rs1826055926
|
|
NM_033305.3(VPS13A):c.6075C>T (p.Asn2025=)
|
|
|
NM_033305.3(VPS13A):c.6082T>C (p.Leu2028=)
|
|
|
NM_033305.3(VPS13A):c.6095+14A>G
|
|
|
NM_033305.3(VPS13A):c.6095+15T>A
|
|
|
NM_033305.3(VPS13A):c.6095+18T>C
|
|
|
NM_033305.3(VPS13A):c.6096-12A>C
|
|
|
NM_033305.3(VPS13A):c.6096-16A>G
|
|
|
NM_033305.3(VPS13A):c.6096-17C>T
|
|
|
NM_033305.3(VPS13A):c.6096-5T>C
|
rs759172543
|
|
NM_033305.3(VPS13A):c.6096-6A>G
|
|
|
NM_033305.3(VPS13A):c.6096-8T>C
|
rs2131498345
|
|
NM_033305.3(VPS13A):c.6099A>G (p.Ser2033=)
|
rs1830588981
|
|
NM_033305.3(VPS13A):c.6105T>C (p.Ile2035=)
|
|
|
NM_033305.3(VPS13A):c.6108T>C (p.Phe2036=)
|
|
|
NM_033305.3(VPS13A):c.6117A>G (p.Pro2039=)
|
|
|
NM_033305.3(VPS13A):c.615+10T>C
|
|
|
NM_033305.3(VPS13A):c.615+11A>G
|
|
|
NM_033305.3(VPS13A):c.615+12C>A
|
|
|
NM_033305.3(VPS13A):c.615+18T>G
|
|
|
NM_033305.3(VPS13A):c.615+8_615+11del
|
rs778895810
|
|
NM_033305.3(VPS13A):c.616-14A>C
|
|
|
NM_033305.3(VPS13A):c.616-19T>C
|
|
|
NM_033305.3(VPS13A):c.6180T>C (p.Gly2060=)
|
|
|
NM_033305.3(VPS13A):c.6189A>G (p.Leu2063=)
|
rs773061862
|
|
NM_033305.3(VPS13A):c.618A>G (p.Leu206=)
|
rs2131153449
|
|
NM_033305.3(VPS13A):c.6198A>G (p.Lys2066=)
|
|
|
NM_033305.3(VPS13A):c.6213C>T (p.Asn2071=)
|
|
|
NM_033305.3(VPS13A):c.6219T>C (p.Ser2073=)
|
rs2131498692
|
|
NM_033305.3(VPS13A):c.6225A>G (p.Glu2075=)
|
|
|
NM_033305.3(VPS13A):c.6249A>G (p.Pro2083=)
|
|
|
NM_033305.3(VPS13A):c.624A>G (p.Arg208=)
|
|
|
NM_033305.3(VPS13A):c.6279G>A (p.Val2093=)
|
|
|
NM_033305.3(VPS13A):c.6288A>G (p.Glu2096=)
|
|
|
NM_033305.3(VPS13A):c.6306A>G (p.Pro2102=)
|
|
|
NM_033305.3(VPS13A):c.6309C>T (p.Tyr2103=)
|
rs2131499011
|
|
NM_033305.3(VPS13A):c.6327A>C (p.Pro2109=)
|
|
|
NM_033305.3(VPS13A):c.6330T>A (p.Pro2110=)
|
|
|
NM_033305.3(VPS13A):c.6333C>T (p.Ile2111=)
|
|
|
NM_033305.3(VPS13A):c.6336G>A (p.Leu2112=)
|
|
|
NM_033305.3(VPS13A):c.6342A>C (p.Arg2114=)
|
|
|
NM_033305.3(VPS13A):c.634C>T (p.Leu212=)
|
|
|
NM_033305.3(VPS13A):c.6357C>T (p.Tyr2119=)
|
rs2131499119
|
|
NM_033305.3(VPS13A):c.636G>A (p.Leu212=)
|
rs1017574389
|
|
NM_033305.3(VPS13A):c.6378+10A>G
|
rs553943819
|
|
NM_033305.3(VPS13A):c.6378+13T>A
|
|
|
NM_033305.3(VPS13A):c.6378+13T>C
|
|
|
NM_033305.3(VPS13A):c.6378+14G>T
|
|
|
NM_033305.3(VPS13A):c.6378+17T>G
|
|
|
NM_033305.3(VPS13A):c.6378+20G>A
|
|
|
NM_033305.3(VPS13A):c.6379-14T>C
|
|
|
NM_033305.3(VPS13A):c.6379-16T>G
|
|
|
NM_033305.3(VPS13A):c.6379-18T>G
|
|
|
NM_033305.3(VPS13A):c.6379-18_6379-17insG
|
|
|
NM_033305.3(VPS13A):c.6379-4A>G
|
|
|
NM_033305.3(VPS13A):c.6379-6T>A
|
|
|
NM_033305.3(VPS13A):c.6379-7A>G
|
rs759586753
|
|
NM_033305.3(VPS13A):c.6379-7dup
|
rs2131504689
|
|
NM_033305.3(VPS13A):c.6379-8T>C
|
|
|
NM_033305.3(VPS13A):c.6379-9T>G
|
|
|
NM_033305.3(VPS13A):c.6399T>C (p.Phe2133=)
|
rs2131504879
|
|
NM_033305.3(VPS13A):c.63C>T (p.Asp21=)
|
rs2131030184
|
|
NM_033305.3(VPS13A):c.6405A>G (p.Leu2135=)
|
|
|
NM_033305.3(VPS13A):c.6408T>C (p.Ser2136=)
|
|
|
NM_033305.3(VPS13A):c.6411A>G (p.Glu2137=)
|
|
|
NM_033305.3(VPS13A):c.6420A>G (p.Ser2140=)
|
rs2131504998
|
|
NM_033305.3(VPS13A):c.6423C>A (p.Ala2141=)
|
rs1830709857
|
|
NM_033305.3(VPS13A):c.6426G>A (p.Gln2142=)
|
|
|
NM_033305.3(VPS13A):c.6435T>C (p.Thr2145=)
|
|
|
NM_033305.3(VPS13A):c.6441G>A (p.Gln2147=)
|
rs2131505082
|
|
NM_033305.3(VPS13A):c.6442T>C (p.Leu2148=)
|
rs2131505090
|
|
NM_033305.3(VPS13A):c.6453C>G (p.Ala2151=)
|
|
|
NM_033305.3(VPS13A):c.6453C>T (p.Ala2151=)
|
rs2131505119
|
|
NM_033305.3(VPS13A):c.6471A>G (p.Leu2157=)
|
|
|
NM_033305.3(VPS13A):c.6483C>A (p.Leu2161=)
|
|
|
NM_033305.3(VPS13A):c.6501T>C (p.Ser2167=)
|
|
|
NM_033305.3(VPS13A):c.6531C>T (p.Asp2177=)
|
rs1830714160
|
|
NM_033305.3(VPS13A):c.6552T>G (p.Thr2184=)
|
|
|
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=)
|
rs1057515657
|
|
NM_033305.3(VPS13A):c.6594C>A (p.Val2198=)
|
rs2131505539
|
|
NM_033305.3(VPS13A):c.6606C>T (p.Tyr2202=)
|
rs747701216
|
|
NM_033305.3(VPS13A):c.6615T>C (p.Gly2205=)
|
rs2131505639
|
|
NM_033305.3(VPS13A):c.6621A>C (p.Thr2207=)
|
rs2131505646
|
|
NM_033305.3(VPS13A):c.6621A>T (p.Thr2207=)
|
|
|
NM_033305.3(VPS13A):c.6627G>T (p.Val2209=)
|
rs2131505683
|
|
NM_033305.3(VPS13A):c.6630A>G (p.Ala2210=)
|
|
|
NM_033305.3(VPS13A):c.6645T>C (p.Tyr2215=)
|
|
|
NM_033305.3(VPS13A):c.6654C>T (p.Val2218=)
|
|
|
NM_033305.3(VPS13A):c.6663T>C (p.Thr2221=)
|
rs1488048209
|
|
NM_033305.3(VPS13A):c.6669C>T (p.Arg2223=)
|
|
|
NM_033305.3(VPS13A):c.6675A>G (p.Leu2225=)
|
|
|
NM_033305.3(VPS13A):c.6678G>A (p.Gln2226=)
|
rs1211978470
|
|
NM_033305.3(VPS13A):c.6693A>G (p.Gly2231=)
|
rs755632398
|
|
NM_033305.3(VPS13A):c.6699T>C (p.His2233=)
|
rs760655067
|
|
NM_033305.3(VPS13A):c.6705G>A (p.Lys2235=)
|
|
|
NM_033305.3(VPS13A):c.6720T>C (p.Tyr2240=)
|
rs2131506023
|
|
NM_033305.3(VPS13A):c.6729A>G (p.Pro2243=)
|
rs1310155003
|
|
NM_033305.3(VPS13A):c.6741T>A (p.Ser2247=)
|
|
|
NM_033305.3(VPS13A):c.6774+13dup
|
|
|
NM_033305.3(VPS13A):c.6774+16T>C
|
|
|
NM_033305.3(VPS13A):c.6774+17C>G
|
|
|
NM_033305.3(VPS13A):c.6774+7_6774+17del
|
|
|
NM_033305.3(VPS13A):c.6774+8A>G
|
rs2131506240
|
|
NM_033305.3(VPS13A):c.6775-10T>G
|
|
|
NM_033305.3(VPS13A):c.6775-12T>A
|
|
|
NM_033305.3(VPS13A):c.6775-12T>C
|
|
|
NM_033305.3(VPS13A):c.6775-13A>C
|
|
|
NM_033305.3(VPS13A):c.6775-13A>G
|
|
|
NM_033305.3(VPS13A):c.6775-13del
|
|
|
NM_033305.3(VPS13A):c.6775-15A>G
|
|
|
NM_033305.3(VPS13A):c.6775-18G>A
|
|
|
NM_033305.3(VPS13A):c.6775-8T>C
|
rs2131507141
|
|
NM_033305.3(VPS13A):c.6792T>A (p.Thr2264=)
|
|
|
NM_033305.3(VPS13A):c.6792T>C (p.Thr2264=)
|
rs771883341
|
|
NM_033305.3(VPS13A):c.6792T>G (p.Thr2264=)
|
|
|
NM_033305.3(VPS13A):c.6798T>C (p.Ser2266=)
|
rs2131507286
|
|
NM_033305.3(VPS13A):c.6816T>C (p.Phe2272=)
|
rs2131507338
|
|
NM_033305.3(VPS13A):c.6819A>G (p.Ser2273=)
|
rs2131507354
|
|
NM_033305.3(VPS13A):c.681T>C (p.Asp227=)
|
rs2131153699
|
|
NM_033305.3(VPS13A):c.6828T>C (p.Thr2276=)
|
rs2131507374
|
|
NM_033305.3(VPS13A):c.6849T>C (p.Val2283=)
|
|
|
NM_033305.3(VPS13A):c.6862C>T (p.Leu2288=)
|
|
|
NM_033305.3(VPS13A):c.6873C>T (p.Asp2291=)
|
|
|
NM_033305.3(VPS13A):c.6879+10T>A
|
|
|
NM_033305.3(VPS13A):c.6879+10T>C
|
rs1259414902
|
|
NM_033305.3(VPS13A):c.6879+15T>G
|
|
|
NM_033305.3(VPS13A):c.6879+16G>A
|
|
|
NM_033305.3(VPS13A):c.6879+19T>G
|
|
|
NM_033305.3(VPS13A):c.6879+7_6879+8insTTT
|
rs1337510689
|
|
NM_033305.3(VPS13A):c.6880-10T>G
|
rs2131508064
|
|
NM_033305.3(VPS13A):c.6880-16A>T
|
|
|
NM_033305.3(VPS13A):c.6880-18T>C
|
|
|
NM_033305.3(VPS13A):c.6880-5_6880-3del
|
rs2131508071
|
|
NM_033305.3(VPS13A):c.6880-6T>C
|
|
|
NM_033305.3(VPS13A):c.6880-7T>C
|
|
|
NM_033305.3(VPS13A):c.6915T>C (p.Ile2305=)
|
rs1384091428
|
|
NM_033305.3(VPS13A):c.6936C>A (p.Thr2312=)
|
|
|
NM_033305.3(VPS13A):c.693C>A (p.Ser231=)
|
|
|
NM_033305.3(VPS13A):c.693C>T (p.Ser231=)
|
rs1489299609
|
|
NM_033305.3(VPS13A):c.6942T>C (p.Phe2314=)
|
|
|
NM_033305.3(VPS13A):c.696+18G>C
|
|
|
NM_033305.3(VPS13A):c.696+8A>T
|
rs2131153789
|
|
NM_033305.3(VPS13A):c.697-10C>G
|
|
|
NM_033305.3(VPS13A):c.697-10C>T
|
|
|
NM_033305.3(VPS13A):c.697-15T>C
|
|
|
NM_033305.3(VPS13A):c.697-18C>T
|
|
|
NM_033305.3(VPS13A):c.697-5A>G
|
|
|
NM_033305.3(VPS13A):c.6978A>T (p.Ser2326=)
|
|
|
NM_033305.3(VPS13A):c.7002A>G (p.Lys2334=)
|
rs1173967155
|
|
NM_033305.3(VPS13A):c.7008C>G (p.Leu2336=)
|
|
|
NM_033305.3(VPS13A):c.7011T>C (p.Ser2337=)
|
rs149134781
|
|
NM_033305.3(VPS13A):c.7011T>G (p.Ser2337=)
|
|
|
NM_033305.3(VPS13A):c.7018T>C (p.Leu2340=)
|
rs2131508408
|
|
NM_033305.3(VPS13A):c.7026+10T>A
|
|
|
NM_033305.3(VPS13A):c.7026+11G>A
|
|
|
NM_033305.3(VPS13A):c.7026+19A>G
|
|
|
NM_033305.3(VPS13A):c.7026+9A>C
|
|
|
NM_033305.3(VPS13A):c.7027-16A>G
|
|
|
NM_033305.3(VPS13A):c.7027-17T>C
|
|
|
NM_033305.3(VPS13A):c.7027-19T>C
|
|
|
NM_033305.3(VPS13A):c.7027-20A>G
|
|
|
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=)
|
rs143259810
|
|
NM_033305.3(VPS13A):c.7044T>C (p.Pro2348=)
|
rs143259810
|
|
NM_033305.3(VPS13A):c.7050T>C (p.Tyr2350=)
|
|
|
NM_033305.3(VPS13A):c.705G>A (p.Leu235=)
|
|
|
NM_033305.3(VPS13A):c.7071T>C (p.Ile2357=)
|
|
|
NM_033305.3(VPS13A):c.7098C>G (p.Pro2366=)
|
|
|
NM_033305.3(VPS13A):c.7102A>C (p.Arg2368=)
|
rs1459527520
|
|
NM_033305.3(VPS13A):c.7116C>T (p.Asn2372=)
|
rs768898784
|
|
NM_033305.3(VPS13A):c.7119G>A (p.Lys2373=)
|
|
|
NM_033305.3(VPS13A):c.7146A>G (p.Leu2382=)
|
|
|
NM_033305.3(VPS13A):c.7155+10T>C
|
|
|
NM_033305.3(VPS13A):c.7155+13T>G
|
|
|
NM_033305.3(VPS13A):c.7155+14del
|
rs747383490
|
|
NM_033305.3(VPS13A):c.7156-10T>C
|
|
|
NM_033305.3(VPS13A):c.7156-11C>G
|
|
|
NM_033305.3(VPS13A):c.7156-12T>C
|
|
|
NM_033305.3(VPS13A):c.7156-17C>G
|
|
|
NM_033305.3(VPS13A):c.7156-17C>T
|
|
|
NM_033305.3(VPS13A):c.7156-18T>C
|
|
|
NM_033305.3(VPS13A):c.7156-20T>C
|
|
|
NM_033305.3(VPS13A):c.7156-8_7156-5del
|
|
|
NM_033305.3(VPS13A):c.7176A>G (p.Glu2392=)
|
rs758415150
|
|
NM_033305.3(VPS13A):c.7179G>T (p.Val2393=)
|
rs779653365
|
|
NM_033305.3(VPS13A):c.717T>C (p.Ile239=)
|
|
|
NM_033305.3(VPS13A):c.7183T>C (p.Leu2395=)
|
|
|
NM_033305.3(VPS13A):c.7188C>A (p.Ala2396=)
|
|
|
NM_033305.3(VPS13A):c.7197T>C (p.Ser2399=)
|
rs771436974
|
|
NM_033305.3(VPS13A):c.7209A>C (p.Thr2403=)
|
rs2131523827
|
|
NM_033305.3(VPS13A):c.7209A>G (p.Thr2403=)
|
|
|
NM_033305.3(VPS13A):c.720C>A (p.Val240=)
|
rs1564635742
|
|
NM_033305.3(VPS13A):c.7242C>T (p.Phe2414=)
|
|
|
NM_033305.3(VPS13A):c.7245C>T (p.Leu2415=)
|
|
|
NM_033305.3(VPS13A):c.7260A>G (p.Thr2420=)
|
|
|
NM_033305.3(VPS13A):c.7263G>A (p.Lys2421=)
|
rs1215403260
|
|
NM_033305.3(VPS13A):c.7269A>G (p.Glu2423=)
|
|
|
NM_033305.3(VPS13A):c.7281C>T (p.Tyr2427=)
|
rs2131524003
|
|
NM_033305.3(VPS13A):c.7289+11C>T
|
|
|
NM_033305.3(VPS13A):c.7289+14A>C
|
|
|
NM_033305.3(VPS13A):c.7289+18A>G
|
|
|
NM_033305.3(VPS13A):c.7289+19C>G
|
|
|
NM_033305.3(VPS13A):c.7289+7T>C
|
|
|
NM_033305.3(VPS13A):c.7289+8T>G
|
|
|
NM_033305.3(VPS13A):c.7290-10A>C
|
rs777376932
|
|
NM_033305.3(VPS13A):c.7290-7G>A
|
rs2131540796
|
|
NM_033305.3(VPS13A):c.7290-8T>C
|
rs2131540792
|
|
NM_033305.3(VPS13A):c.7296C>A (p.Leu2432=)
|
|
|
NM_033305.3(VPS13A):c.72G>A (p.Thr24=)
|
|
|
NM_033305.3(VPS13A):c.7314C>T (p.Ser2438=)
|
rs200167890
|
|
NM_033305.3(VPS13A):c.732T>C (p.Ile244=)
|
rs1822730257
|
|
NM_033305.3(VPS13A):c.7341T>C (p.Tyr2447=)
|
rs2131540943
|
|
NM_033305.3(VPS13A):c.7344A>G (p.Thr2448=)
|
rs762182321
|
|
NM_033305.3(VPS13A):c.7366A>C (p.Arg2456=)
|
|
|
NM_033305.3(VPS13A):c.7368A>G (p.Arg2456=)
|
|
|
NM_033305.3(VPS13A):c.7374G>A (p.Leu2458=)
|
rs2131541024
|
|
NM_033305.3(VPS13A):c.7383A>G (p.Arg2461=)
|
|
|
NM_033305.3(VPS13A):c.7386T>C (p.Cys2462=)
|
|
|
NM_033305.3(VPS13A):c.738A>G (p.Pro246=)
|
|
|
NM_033305.3(VPS13A):c.7395C>T (p.Ser2465=)
|
|
|
NM_033305.3(VPS13A):c.7398T>C (p.His2466=)
|
rs1831459105
|
|
NM_033305.3(VPS13A):c.7413G>A (p.Gln2471=)
|
rs373921631
|
|
NM_033305.3(VPS13A):c.7419+12G>A
|
|
|
NM_033305.3(VPS13A):c.7419+18A>G
|
|
|
NM_033305.3(VPS13A):c.7419+19T>C
|
|
|
NM_033305.3(VPS13A):c.7419+8T>A
|
rs2131541144
|
|
NM_033305.3(VPS13A):c.7420-10T>C
|
rs1195403389
|
|
NM_033305.3(VPS13A):c.7420-12G>T
|
|
|
NM_033305.3(VPS13A):c.7420-4C>T
|
rs764829121
|
|
NM_033305.3(VPS13A):c.7420-5dup
|
|
|
NM_033305.3(VPS13A):c.7420-9T>G
|
|
|
NM_033305.3(VPS13A):c.7422T>C (p.Asp2474=)
|
rs2131546084
|
|
NM_033305.3(VPS13A):c.7440T>C (p.Asp2480=)
|
|
|
NM_033305.3(VPS13A):c.7446G>T (p.Gly2482=)
|
rs748257173
|
|
NM_033305.3(VPS13A):c.7449A>G (p.Glu2483=)
|
rs2131546174
|
|
NM_033305.3(VPS13A):c.7452G>A (p.Lys2484=)
|
|
|
NM_033305.3(VPS13A):c.7455A>G (p.Thr2485=)
|
|
|
NM_033305.3(VPS13A):c.7464A>G (p.Leu2488=)
|
rs2131546244
|
|
NM_033305.3(VPS13A):c.7482T>A (p.Gly2494=)
|
rs2131546302
|
|
NM_033305.3(VPS13A):c.7485A>G (p.Leu2495=)
|
rs761283073
|
|
NM_033305.3(VPS13A):c.7500A>G (p.Leu2500=)
|
rs2131546363
|
|
NM_033305.3(VPS13A):c.7509A>G (p.Glu2503=)
|
rs768165898
|
|
NM_033305.3(VPS13A):c.7518G>A (p.Arg2506=)
|
|
|
NM_033305.3(VPS13A):c.7539A>G (p.Glu2513=)
|
rs2131546454
|
|
NM_033305.3(VPS13A):c.754+12T>G
|
rs1276770332
|
|
NM_033305.3(VPS13A):c.754+16A>C
|
|
|
NM_033305.3(VPS13A):c.754+16A>G
|
|
|
NM_033305.3(VPS13A):c.754+9A>G
|
|
|
NM_033305.3(VPS13A):c.755-12A>T
|
|
|
NM_033305.3(VPS13A):c.755-18A>G
|
|
|
NM_033305.3(VPS13A):c.7551A>C (p.Ala2517=)
|
rs1831593364
|
|
NM_033305.3(VPS13A):c.7554G>A (p.Glu2518=)
|
|
|
NM_033305.3(VPS13A):c.7557A>G (p.Leu2519=)
|
|
|
NM_033305.3(VPS13A):c.756A>G (p.Val252=)
|
rs1245572325
|
|
NM_033305.3(VPS13A):c.7572T>C (p.Ile2524=)
|
rs1587644390
|
|
NM_033305.3(VPS13A):c.7581A>G (p.Ala2527=)
|
rs2131546548
|
|
NM_033305.3(VPS13A):c.7581A>T (p.Ala2527=)
|
|
|
NM_033305.3(VPS13A):c.7584A>G (p.Leu2528=)
|
|
|
NM_033305.3(VPS13A):c.7596A>C (p.Gly2532=)
|
|
|
NM_033305.3(VPS13A):c.75C>T (p.Ser25=)
|
|
|
NM_033305.3(VPS13A):c.7602T>C (p.Ser2534=)
|
rs2131546603
|
|
NM_033305.3(VPS13A):c.7623G>A (p.Lys2541=)
|
rs766148952
|
|
NM_033305.3(VPS13A):c.7652+13A>C
|
|
|
NM_033305.3(VPS13A):c.7652+13A>G
|
|
|
NM_033305.3(VPS13A):c.7652+14A>C
|
|
|
NM_033305.3(VPS13A):c.7652+7T>G
|
rs1587644532
|
|
NM_033305.3(VPS13A):c.7652+9C>G
|
|
|
NM_033305.3(VPS13A):c.7653-11T>C
|
|
|
NM_033305.3(VPS13A):c.7653-7A>C
|
rs1308688691
|
|
NM_033305.3(VPS13A):c.7659T>C (p.Asp2553=)
|
|
|
NM_033305.3(VPS13A):c.765C>T (p.Pro255=)
|
|
|
NM_033305.3(VPS13A):c.7674A>G (p.Thr2558=)
|
|
|
NM_033305.3(VPS13A):c.7674A>T (p.Thr2558=)
|
|
|
NM_033305.3(VPS13A):c.7677G>A (p.Lys2559=)
|
|
|
NM_033305.3(VPS13A):c.7680C>G (p.Pro2560=)
|
|
|
NM_033305.3(VPS13A):c.7680C>T (p.Pro2560=)
|
rs747966728
|
|
NM_033305.3(VPS13A):c.768A>T (p.Ile256=)
|
rs1392635234
|
|
NM_033305.3(VPS13A):c.7701G>A (p.Lys2567=)
|
|
|
NM_033305.3(VPS13A):c.7719C>T (p.His2573=)
|
|
|
NM_033305.3(VPS13A):c.7731A>G (p.Leu2577=)
|
|
|
NM_033305.3(VPS13A):c.7749A>G (p.Glu2583=)
|
|
|
NM_033305.3(VPS13A):c.7782T>C (p.Val2594=)
|
rs1587650246
|
|
NM_033305.3(VPS13A):c.7806+11T>G
|
|
|
NM_033305.3(VPS13A):c.7806+7T>C
|
|
|
NM_033305.3(VPS13A):c.7806+8T>A
|
|
|
NM_033305.3(VPS13A):c.7807-11A>G
|
|
|
NM_033305.3(VPS13A):c.7807-19G>C
|
|
|
NM_033305.3(VPS13A):c.7807-19G>T
|
|
|
NM_033305.3(VPS13A):c.7809T>C (p.Val2603=)
|
|
|
NM_033305.3(VPS13A):c.7815A>G (p.Leu2605=)
|
|
|
NM_033305.3(VPS13A):c.7818C>G (p.Thr2606=)
|
|
|
NM_033305.3(VPS13A):c.7824T>C (p.Thr2608=)
|
|
|
NM_033305.3(VPS13A):c.7851G>T (p.Pro2617=)
|
rs753711996
|
|
NM_033305.3(VPS13A):c.7867C>A (p.Arg2623=)
|
|
|
NM_033305.3(VPS13A):c.7869A>G (p.Arg2623=)
|
rs2131556527
|
|
NM_033305.3(VPS13A):c.7878T>C (p.Tyr2626=)
|
|
|
NM_033305.3(VPS13A):c.7881T>C (p.Leu2627=)
|
rs2131556546
|
|
NM_033305.3(VPS13A):c.7887A>C (p.Ala2629=)
|
|
|
NM_033305.3(VPS13A):c.7899A>G (p.Glu2633=)
|
rs2131556585
|
|
NM_033305.3(VPS13A):c.7914A>C (p.Ala2638=)
|
|
|
NM_033305.3(VPS13A):c.7914A>T (p.Ala2638=)
|
rs1831900798
|
|
NM_033305.3(VPS13A):c.7929T>C (p.Phe2643=)
|
rs1329855562
|
|
NM_033305.3(VPS13A):c.7932A>G (p.Arg2644=)
|
rs778227258
|
|
NM_033305.3(VPS13A):c.7938G>A (p.Gln2646=)
|
rs2131556696
|
|
NM_033305.3(VPS13A):c.7947A>G (p.Arg2649=)
|
|
|
NM_033305.3(VPS13A):c.7950A>C (p.Ile2650=)
|
rs1341166427
|
|
NM_033305.3(VPS13A):c.7953+11C>G
|
|
|
NM_033305.3(VPS13A):c.7953+16A>T
|
|
|
NM_033305.3(VPS13A):c.7953+17A>C
|
|
|
NM_033305.3(VPS13A):c.7953+19A>C
|
|
|
NM_033305.3(VPS13A):c.7953+20T>C
|
|
|
NM_033305.3(VPS13A):c.7954-17T>G
|
|
|
NM_033305.3(VPS13A):c.7954-19T>C
|
|
|
NM_033305.3(VPS13A):c.7954-4T>C
|
|
|
NM_033305.3(VPS13A):c.7954-9T>C
|
rs2131558278
|
|
NM_033305.3(VPS13A):c.7977T>G (p.Ala2659=)
|
|
|
NM_033305.3(VPS13A):c.7980A>G (p.Val2660=)
|
rs2131558348
|
|
NM_033305.3(VPS13A):c.7986C>G (p.Pro2662=)
|
rs1456919696
|
|
NM_033305.3(VPS13A):c.7989T>C (p.Phe2663=)
|
rs2131558374
|
|
NM_033305.3(VPS13A):c.7992G>A (p.Val2664=)
|
|
|
NM_033305.3(VPS13A):c.801A>C (p.Arg267=)
|
|
|
NM_033305.3(VPS13A):c.8025C>T (p.Thr2675=)
|
|
|
NM_033305.3(VPS13A):c.8035+12T>C
|
|
|
NM_033305.3(VPS13A):c.8035+12_8035+17del
|
rs1438384695
|
|
NM_033305.3(VPS13A):c.8035+17A>T
|
|
|
NM_033305.3(VPS13A):c.8036-18T>C
|
|
|
NM_033305.3(VPS13A):c.8036-7T>C
|
|
|
NM_033305.3(VPS13A):c.8036-8C>T
|
rs2131560442
|
|
NM_033305.3(VPS13A):c.8036-9C>T
|
|
|
NM_033305.3(VPS13A):c.8040A>G (p.Pro2680=)
|
|
|
NM_033305.3(VPS13A):c.8067C>A (p.Val2689=)
|
|
|
NM_033305.3(VPS13A):c.8067C>T (p.Val2689=)
|
|
|
NM_033305.3(VPS13A):c.8085T>C (p.His2695=)
|
|
|
NM_033305.3(VPS13A):c.8105+14T>C
|
|
|
NM_033305.3(VPS13A):c.8105+15A>G
|
|
|
NM_033305.3(VPS13A):c.8105+17A>G
|
|
|
NM_033305.3(VPS13A):c.8105+7G>T
|
|
|
NM_033305.3(VPS13A):c.8105+9C>G
|
rs2131560612
|
|
NM_033305.3(VPS13A):c.8106-7A>G
|
|
|
NM_033305.3(VPS13A):c.8115A>G (p.Lys2705=)
|
rs2131563560
|
|
NM_033305.3(VPS13A):c.8145A>G (p.Leu2715=)
|
rs1563958403
|
|
NM_033305.3(VPS13A):c.8148T>C (p.Asp2716=)
|
|
|
NM_033305.3(VPS13A):c.8151T>C (p.Leu2717=)
|
rs1587657525
|
|
NM_033305.3(VPS13A):c.8184A>G (p.Thr2728=)
|
rs1832089569
|
|
NM_033305.3(VPS13A):c.8190T>C (p.Ala2730=)
|
rs2131563751
|
|
NM_033305.3(VPS13A):c.8196G>C (p.Val2732=)
|
|
|
NM_033305.3(VPS13A):c.8199T>C (p.Thr2733=)
|
|
|
NM_033305.3(VPS13A):c.8211+12_8211+16del
|
|
|
NM_033305.3(VPS13A):c.8211+13A>G
|
|
|
NM_033305.3(VPS13A):c.8211+3_8211+8dup
|
rs2131563779
|
|
NM_033305.3(VPS13A):c.8211+7_8211+10del
|
|
|
NM_033305.3(VPS13A):c.8211+9del
|
rs752070804
|
|
NM_033305.3(VPS13A):c.8212-13G>T
|
|
|
NM_033305.3(VPS13A):c.8212-16T>A
|
|
|
NM_033305.3(VPS13A):c.8212-20A>G
|
|
|
NM_033305.3(VPS13A):c.8212-9C>T
|
|
|
NM_033305.3(VPS13A):c.8217G>A (p.Glu2739=)
|
|
|
NM_033305.3(VPS13A):c.8232T>C (p.Asp2744=)
|
|
|
NM_033305.3(VPS13A):c.8265C>T (p.Ala2755=)
|
|
|
NM_033305.3(VPS13A):c.8268A>G (p.Ser2756=)
|
rs1587667026
|
|
NM_033305.3(VPS13A):c.8277T>C (p.Asp2759=)
|
|
|
NM_033305.3(VPS13A):c.8280A>G (p.Gln2760=)
|
|
|
NM_033305.3(VPS13A):c.8286A>G (p.Gln2762=)
|
rs2131577799
|
|
NM_033305.3(VPS13A):c.8289C>T (p.Val2763=)
|
|
|
NM_033305.3(VPS13A):c.8292C>T (p.Ser2764=)
|
rs759909043
|
|
NM_033305.3(VPS13A):c.8316T>A (p.Ser2772=)
|
|
|
NM_033305.3(VPS13A):c.8325+13C>G
|
|
|
NM_033305.3(VPS13A):c.8325+17T>G
|
|
|
NM_033305.3(VPS13A):c.8325+18_8325+19del
|
|
|
NM_033305.3(VPS13A):c.8326-10A>G
|
rs776064733
|
|
NM_033305.3(VPS13A):c.8326-12T>A
|
|
|
NM_033305.3(VPS13A):c.8326-12T>C
|
|
|
NM_033305.3(VPS13A):c.8326-12T>G
|
|
|
NM_033305.3(VPS13A):c.8326-12_8326-11del
|
|
|
NM_033305.3(VPS13A):c.8326-13T>G
|
|
|
NM_033305.3(VPS13A):c.8326-14C>A
|
|
|
NM_033305.3(VPS13A):c.8326-14C>G
|
|
|
NM_033305.3(VPS13A):c.8326-14_8326-11del
|
|
|
NM_033305.3(VPS13A):c.8326-18A>T
|
|
|
NM_033305.3(VPS13A):c.8326-9T>C
|
rs377207319
|
|
NM_033305.3(VPS13A):c.8331T>C (p.His2777=)
|
rs1587669020
|
|
NM_033305.3(VPS13A):c.8337T>C (p.Ser2779=)
|
|
|
NM_033305.3(VPS13A):c.834C>T (p.Asn278=)
|
|
|
NM_033305.3(VPS13A):c.8358A>G (p.Arg2786=)
|
|
|
NM_033305.3(VPS13A):c.8361A>G (p.Glu2787=)
|
|
|
NM_033305.3(VPS13A):c.8376A>C (p.Ser2792=)
|
rs2131580265
|
|
NM_033305.3(VPS13A):c.8382A>G (p.Gln2794=)
|
|
|
NM_033305.3(VPS13A):c.8391A>G (p.Gly2797=)
|
rs2131580309
|
|
NM_033305.3(VPS13A):c.8392C>T (p.Leu2798=)
|
rs2131580311
|
|
NM_033305.3(VPS13A):c.8443C>T (p.Leu2815=)
|
rs2131580374
|
|
NM_033305.3(VPS13A):c.8448A>C (p.Thr2816=)
|
rs2131580385
|
|
NM_033305.3(VPS13A):c.8448A>G (p.Thr2816=)
|
|
|
NM_033305.3(VPS13A):c.8451T>C (p.Asp2817=)
|
|
|
NM_033305.3(VPS13A):c.8466T>G (p.Val2822=)
|
rs2131580439
|
|
NM_033305.3(VPS13A):c.8471+10G>A
|
|
|
NM_033305.3(VPS13A):c.8471+12A>G
|
|
|
NM_033305.3(VPS13A):c.8471+13T>C
|
|
|
NM_033305.3(VPS13A):c.8471+17A>C
|
|
|
NM_033305.3(VPS13A):c.8472-10C>T
|
|
|
NM_033305.3(VPS13A):c.8472-11G>A
|
|
|
NM_033305.3(VPS13A):c.8472-11G>T
|
rs1281741862
|
|
NM_033305.3(VPS13A):c.8472-16T>G
|
|
|
NM_033305.3(VPS13A):c.8472-18T>A
|
|
|
NM_033305.3(VPS13A):c.8472-20T>C
|
|
|
NM_033305.3(VPS13A):c.8472-20T>G
|
|
|
NM_033305.3(VPS13A):c.8472-4dup
|
rs1323510515
|
|
NM_033305.3(VPS13A):c.8472-7T>C
|
rs868368544
|
|
NM_033305.3(VPS13A):c.8481T>C (p.Phe2827=)
|
|
|
NM_033305.3(VPS13A):c.84T>A (p.Ser28=)
|
rs1468144614
|
|
NM_033305.3(VPS13A):c.84T>C (p.Ser28=)
|
|
|
NM_033305.3(VPS13A):c.8514C>G (p.Ser2838=)
|
rs1425890506
|
|
NM_033305.3(VPS13A):c.8520A>G (p.Leu2840=)
|
rs1832536403
|
|
NM_033305.3(VPS13A):c.8538A>G (p.Arg2846=)
|
|
|
NM_033305.3(VPS13A):c.8553+10A>G
|
|
|
NM_033305.3(VPS13A):c.8553+12A>G
|
|
|
NM_033305.3(VPS13A):c.8553+14T>G
|
|
|
NM_033305.3(VPS13A):c.8553+20A>T
|
|
|
NM_033305.3(VPS13A):c.8553+22_8553+43del
|
|
|
NM_033305.3(VPS13A):c.8553+7C>G
|
|
|
NM_033305.3(VPS13A):c.8554-12T>C
|
|
|
NM_033305.3(VPS13A):c.8554-13A>C
|
|
|
NM_033305.3(VPS13A):c.8554-15A>G
|
|
|
NM_033305.3(VPS13A):c.8554-19G>A
|
|
|
NM_033305.3(VPS13A):c.8554-8A>G
|
rs2131585205
|
|
NM_033305.3(VPS13A):c.855C>T (p.Asn285=)
|
|
|
NM_033305.3(VPS13A):c.8586A>T (p.Gly2862=)
|
rs2131585288
|
|
NM_033305.3(VPS13A):c.8607A>G (p.Pro2869=)
|
rs2131585316
|
|
NM_033305.3(VPS13A):c.8637T>G (p.Gly2879=)
|
|
|
NM_033305.3(VPS13A):c.8667+11T>A
|
|
|
NM_033305.3(VPS13A):c.8667+14T>C
|
|
|
NM_033305.3(VPS13A):c.8667+9G>A
|
|
|
NM_033305.3(VPS13A):c.8668-14A>G
|
|
|
NM_033305.3(VPS13A):c.8668-15T>C
|
|
|
NM_033305.3(VPS13A):c.8668-16C>T
|
|
|
NM_033305.3(VPS13A):c.8668-19T>G
|
|
|
NM_033305.3(VPS13A):c.8668-20T>C
|
|
|
NM_033305.3(VPS13A):c.8668-5T>C
|
|
|
NM_033305.3(VPS13A):c.8668-5T>G
|
|
|
NM_033305.3(VPS13A):c.8668-8C>A
|
|
|
NM_033305.3(VPS13A):c.8668-8C>T
|
|
|
NM_033305.3(VPS13A):c.8668-9G>A
|
rs2131587130
|
|
NM_033305.3(VPS13A):c.8670A>T (p.Gly2890=)
|
rs2131587164
|
|
NM_033305.3(VPS13A):c.8673C>T (p.Ala2891=)
|
rs2131587174
|
|
NM_033305.3(VPS13A):c.8685T>A (p.Pro2895=)
|
rs1587675725
|
|
NM_033305.3(VPS13A):c.8688A>G (p.Glu2896=)
|
rs2131587216
|
|
NM_033305.3(VPS13A):c.8691G>A (p.Glu2897=)
|
|
|
NM_033305.3(VPS13A):c.8694T>C (p.Phe2898=)
|
|
|
NM_033305.3(VPS13A):c.8727A>G (p.Leu2909=)
|
|
|
NM_033305.3(VPS13A):c.8743+10A>G
|
|
|
NM_033305.3(VPS13A):c.8743+10A>T
|
|
|
NM_033305.3(VPS13A):c.8743+13A>G
|
|
|
NM_033305.3(VPS13A):c.8743+16T>G
|
|
|
NM_033305.3(VPS13A):c.8743+18_8743+20dup
|
|
|
NM_033305.3(VPS13A):c.8743+19A>G
|
|
|
NM_033305.3(VPS13A):c.8743+20C>T
|
|
|
NM_033305.3(VPS13A):c.8743+7A>C
|
|
|
NM_033305.3(VPS13A):c.8744-12A>G
|
|
|
NM_033305.3(VPS13A):c.8744-18A>G
|
|
|
NM_033305.3(VPS13A):c.8757T>C (p.Gly2919=)
|
rs765766278
|
|
NM_033305.3(VPS13A):c.8766C>A (p.Ser2922=)
|
|
|
NM_033305.3(VPS13A):c.8772C>T (p.Ile2924=)
|
rs1451552987
|
|
NM_033305.3(VPS13A):c.8781T>C (p.Ala2927=)
|
rs2131587625
|
|
NM_033305.3(VPS13A):c.8793G>A (p.Gly2931=)
|
rs1207246802
|
|
NM_033305.3(VPS13A):c.879A>G (p.Pro293=)
|
rs1354968822
|
|
NM_033305.3(VPS13A):c.87G>A (p.Leu29=)
|
|
|
NM_033305.3(VPS13A):c.8802T>C (p.Ala2934=)
|
rs2131587674
|
|
NM_033305.3(VPS13A):c.8808C>A (p.Thr2936=)
|
|
|
NM_033305.3(VPS13A):c.882+12T>C
|
|
|
NM_033305.3(VPS13A):c.882+12dup
|
|
|
NM_033305.3(VPS13A):c.882+13A>G
|
|
|
NM_033305.3(VPS13A):c.882+19A>C
|
|
|
NM_033305.3(VPS13A):c.882+20T>C
|
|
|
NM_033305.3(VPS13A):c.882+8T>A
|
|
|
NM_033305.3(VPS13A):c.882+8T>C
|
rs1590020161
|
|
NM_033305.3(VPS13A):c.8823C>T (p.Tyr2941=)
|
|
|
NM_033305.3(VPS13A):c.8826A>G (p.Gln2942=)
|
|
|
NM_033305.3(VPS13A):c.8829G>A (p.Gln2943=)
|
rs2131587734
|
|
NM_033305.3(VPS13A):c.883-13T>A
|
|
|
NM_033305.3(VPS13A):c.883-3del
|
rs761831670
|
|
NM_033305.3(VPS13A):c.883-6C>A
|
rs764388378
|
|
NM_033305.3(VPS13A):c.883-9A>G
|
rs1590020490
|
|
NM_033305.3(VPS13A):c.8836A>C (p.Arg2946=)
|
|
|
NM_033305.3(VPS13A):c.8844C>T (p.Ala2948=)
|
rs2131587769
|
|
NM_033305.3(VPS13A):c.8853G>A (p.Lys2951=)
|
|
|
NM_033305.3(VPS13A):c.8865T>G (p.Gly2955=)
|
|
|
NM_033305.3(VPS13A):c.8874A>G (p.Glu2958=)
|
rs2131587813
|
|
NM_033305.3(VPS13A):c.888C>T (p.Phe296=)
|
rs2131176867
|
|
NM_033305.3(VPS13A):c.8907+11T>C
|
|
|
NM_033305.3(VPS13A):c.8907+13A>G
|
|
|
NM_033305.3(VPS13A):c.8907+14C>A
|
|
|
NM_033305.3(VPS13A):c.8907+15A>G
|
|
|
NM_033305.3(VPS13A):c.8907+17G>A
|
|
|
NM_033305.3(VPS13A):c.8907+19T>C
|
rs1192828015
|
|
NM_033305.3(VPS13A):c.8908-17T>G
|
|
|
NM_033305.3(VPS13A):c.8908-19A>C
|
|
|
NM_033305.3(VPS13A):c.8908-20C>T
|
|
|
NM_033305.3(VPS13A):c.8908-4C>T
|
|
|
NM_033305.3(VPS13A):c.8910A>C (p.Gly2970=)
|
rs767575051
|
|
NM_033305.3(VPS13A):c.8940A>G (p.Thr2980=)
|
|
|
NM_033305.3(VPS13A):c.8949C>T (p.Ile2983=)
|
|
|
NM_033305.3(VPS13A):c.894T>A (p.Ile298=)
|
|
|
NM_033305.3(VPS13A):c.8953+10G>A
|
rs780709670
|
|
NM_033305.3(VPS13A):c.8953+10G>C
|
|
|
NM_033305.3(VPS13A):c.8953+12A>C
|
|
|
NM_033305.3(VPS13A):c.8953+16C>G
|
|
|
NM_033305.3(VPS13A):c.8953+19T>C
|
|
|
NM_033305.3(VPS13A):c.8954-10_8954-9del
|
|
|
NM_033305.3(VPS13A):c.8954-12T>C
|
|
|
NM_033305.3(VPS13A):c.8954-14T>A
|
|
|
NM_033305.3(VPS13A):c.8954-14T>C
|
|
|
NM_033305.3(VPS13A):c.8954-15C>G
|
|
|
NM_033305.3(VPS13A):c.8954-15_8954-14del
|
|
|
NM_033305.3(VPS13A):c.8954-4C>G
|
rs751339468
|
|
NM_033305.3(VPS13A):c.8954-7T>A
|
rs2131588900
|
|
NM_033305.3(VPS13A):c.8954-9T>G
|
rs2131588884
|
|
NM_033305.3(VPS13A):c.8958T>G (p.Ala2986=)
|
rs2131588933
|
|
NM_033305.3(VPS13A):c.8982C>T (p.Phe2994=)
|
rs998711723
|
|
NM_033305.3(VPS13A):c.8985T>C (p.Phe2995=)
|
|
|
NM_033305.3(VPS13A):c.9015G>A (p.Ala3005=)
|
rs762058561
|
|
NM_033305.3(VPS13A):c.9015G>C (p.Ala3005=)
|
rs762058561
|
|
NM_033305.3(VPS13A):c.9015G>T (p.Ala3005=)
|
rs762058561
|
|
NM_033305.3(VPS13A):c.9021A>T (p.Ala3007=)
|
|
|
NM_033305.3(VPS13A):c.9022A>C (p.Arg3008=)
|
rs769872537
|
|
NM_033305.3(VPS13A):c.9030T>A (p.Thr3010=)
|
|
|
NM_033305.3(VPS13A):c.9045C>T (p.Asp3015=)
|
|
|
NM_033305.3(VPS13A):c.9066G>A (p.Gln3022=)
|
rs756840749
|
|
NM_033305.3(VPS13A):c.906T>A (p.Leu302=)
|
rs1379460428
|
|
NM_033305.3(VPS13A):c.9077+9T>A
|
|
|
NM_033305.3(VPS13A):c.9078-14T>A
|
|
|
NM_033305.3(VPS13A):c.9078-16del
|
|
|
NM_033305.3(VPS13A):c.9078-17T>C
|
|
|
NM_033305.3(VPS13A):c.9078-20T>C
|
|
|
NM_033305.3(VPS13A):c.9078-4C>G
|
rs1374654873
|
|
NM_033305.3(VPS13A):c.9078-5T>C
|
|
|
NM_033305.3(VPS13A):c.9078-6dup
|
rs2131614032
|
|
NM_033305.3(VPS13A):c.9090T>C (p.Thr3030=)
|
rs766693414
|
|
NM_033305.3(VPS13A):c.90C>T (p.Gly30=)
|
|
|
NM_033305.3(VPS13A):c.9108G>A (p.Leu3036=)
|
|
|
NM_033305.3(VPS13A):c.9120G>A (p.Arg3040=)
|
|
|
NM_033305.3(VPS13A):c.9126C>T (p.Phe3042=)
|
|
|
NM_033305.3(VPS13A):c.912A>G (p.Ser304=)
|
|
|
NM_033305.3(VPS13A):c.9141T>C (p.Val3047=)
|
|
|
NM_033305.3(VPS13A):c.9150G>T (p.Pro3050=)
|
rs143089318
|
|
NM_033305.3(VPS13A):c.915T>C (p.Val305=)
|
rs2131177010
|
|
NM_033305.3(VPS13A):c.9180A>G (p.Gln3060=)
|
|
|
NM_033305.3(VPS13A):c.9184T>C (p.Leu3062=)
|
|
|
NM_033305.3(VPS13A):c.9189+14T>C
|
|
|
NM_033305.3(VPS13A):c.9189+15A>G
|
|
|
NM_033305.3(VPS13A):c.9189+18T>A
|
|
|
NM_033305.3(VPS13A):c.9190-11_9190-8del
|
|
|
NM_033305.3(VPS13A):c.9190-15A>T
|
|
|
NM_033305.3(VPS13A):c.9190-16_9190-13del
|
|
|
NM_033305.3(VPS13A):c.9190-18C>G
|
|
|
NM_033305.3(VPS13A):c.9190-6T>G
|
|
|
NM_033305.3(VPS13A):c.9190-7C>T
|
rs1463716391
|
|
NM_033305.3(VPS13A):c.9190-7_9190-3del
|
rs1834463297
|
|
NM_033305.3(VPS13A):c.9190-8T>C
|
rs2131647590
|
|
NM_033305.3(VPS13A):c.9190-9_9190-8del
|
|
|
NM_033305.3(VPS13A):c.9198A>G (p.Glu3066=)
|
rs2131647632
|
|
NM_033305.3(VPS13A):c.9201T>C (p.Asn3067=)
|
rs373757676
|
|
NM_033305.3(VPS13A):c.9213A>C (p.Ala3071=)
|
rs2131647651
|
|
NM_033305.3(VPS13A):c.9219C>T (p.Tyr3073=)
|
|
|
NM_033305.3(VPS13A):c.9225T>C (p.Tyr3075=)
|
|
|
NM_033305.3(VPS13A):c.9231C>A (p.Thr3077=)
|
rs1384539437
|
|
NM_033305.3(VPS13A):c.9231C>T (p.Thr3077=)
|
|
|
NM_033305.3(VPS13A):c.9255T>C (p.Asp3085=)
|
rs1640674493
|
|
NM_033305.3(VPS13A):c.9261A>C (p.Leu3087=)
|
rs778808119
|
|
NM_033305.3(VPS13A):c.9275+12T>G
|
|
|
NM_033305.3(VPS13A):c.9275+15T>C
|
|
|
NM_033305.3(VPS13A):c.9275+15_9275+18del
|
rs745647155
|
|
NM_033305.3(VPS13A):c.9275+17C>T
|
rs1834468642
|
|
NM_033305.3(VPS13A):c.9275+18T>C
|
|
|
NM_033305.3(VPS13A):c.9275+19C>T
|
rs367598003
|
|
NM_033305.3(VPS13A):c.9275+8G>C
|
|
|
NM_033305.3(VPS13A):c.9275+8_9275+11del
|
|
|
NM_033305.3(VPS13A):c.9276-10_9276-8del
|
rs1383785951
|
|
NM_033305.3(VPS13A):c.9276-10del
|
rs2131654490
|
|
NM_033305.3(VPS13A):c.9276-16_9276-13del
|
rs753118278
|
|
NM_033305.3(VPS13A):c.9276-17T>C
|
|
|
NM_033305.3(VPS13A):c.9276-20_9276-17del
|
|
|
NM_033305.3(VPS13A):c.9276-7T>C
|
|
|
NM_033305.3(VPS13A):c.9282A>C (p.Val3094=)
|
|
|
NM_033305.3(VPS13A):c.9291A>T (p.Val3097=)
|
|
|
NM_033305.3(VPS13A):c.9300A>G (p.Gly3100=)
|
|
|
NM_033305.3(VPS13A):c.9306T>C (p.Phe3102=)
|
rs2131654578
|
|
NM_033305.3(VPS13A):c.9312A>G (p.Gln3104=)
|
|
|
NM_033305.3(VPS13A):c.9315C>A (p.Leu3105=)
|
rs1197508826
|
|
NM_033305.3(VPS13A):c.9315C>T (p.Leu3105=)
|
rs1197508826
|
|
NM_033305.3(VPS13A):c.9318G>A (p.Thr3106=)
|
|
|
NM_033305.3(VPS13A):c.9330G>A (p.Gln3110=)
|
rs1195456011
|
|
NM_033305.3(VPS13A):c.9333T>C (p.Tyr3111=)
|
rs759203710
|
|
NM_033305.3(VPS13A):c.9339T>C (p.Phe3113=)
|
rs764978338
|
|
NM_033305.3(VPS13A):c.9342T>C (p.Asp3114=)
|
|
|
NM_033305.3(VPS13A):c.9345A>G (p.Glu3115=)
|
rs2131654691
|
|
NM_033305.3(VPS13A):c.9348T>C (p.Phe3116=)
|
rs762857695
|
|
NM_033305.3(VPS13A):c.9351C>G (p.Thr3117=)
|
rs1489710495
|
|
NM_033305.3(VPS13A):c.9351C>T (p.Thr3117=)
|
|
|
NM_033305.3(VPS13A):c.9372T>C (p.His3124=)
|
rs1326934226
|
|
NM_033305.3(VPS13A):c.9384G>A (p.Leu3128=)
|
|
|
NM_033305.3(VPS13A):c.9387C>T (p.Arg3129=)
|
|
|
NM_033305.3(VPS13A):c.9399+11T>C
|
|
|
NM_033305.3(VPS13A):c.9399+13G>C
|
|
|
NM_033305.3(VPS13A):c.9399+14ATTT[3]
|
|
|
NM_033305.3(VPS13A):c.9399+14_9399+15dup
|
|
|
NM_033305.3(VPS13A):c.9399+16T>A
|
|
|
NM_033305.3(VPS13A):c.9399+16T>G
|
|
|
NM_033305.3(VPS13A):c.9399+18A>G
|
|
|
NM_033305.3(VPS13A):c.9399+18_9399+21del
|
|
|
NM_033305.3(VPS13A):c.9399+20T>G
|
|
|
NM_033305.3(VPS13A):c.9399+3_9399+6dup
|
rs1162773279
|
|
NM_033305.3(VPS13A):c.9399+3_9399+7dup
|
rs1389391433
|
|
NM_033305.3(VPS13A):c.939A>G (p.Pro313=)
|
|
|
NM_033305.3(VPS13A):c.9400-12T>C
|
|
|
NM_033305.3(VPS13A):c.9400-13A>G
|
|
|
NM_033305.3(VPS13A):c.9400-16C>T
|
|
|
NM_033305.3(VPS13A):c.9400-17A>C
|
|
|
NM_033305.3(VPS13A):c.9400-18T>C
|
|
|
NM_033305.3(VPS13A):c.9400-19T>G
|
|
|
NM_033305.3(VPS13A):c.9400-20T>C
|
|
|
NM_033305.3(VPS13A):c.9400-4A>T
|
|
|
NM_033305.3(VPS13A):c.9400-5T>A
|
rs757496909
|
|
NM_033305.3(VPS13A):c.9400-5T>C
|
|
|
NM_033305.3(VPS13A):c.9400-7T>G
|
|
|
NM_033305.3(VPS13A):c.9400-8_9400-5dup
|
rs768185313
|
|
NM_033305.3(VPS13A):c.9400-9T>C
|
rs2131658911
|
|
NM_033305.3(VPS13A):c.9403C>A (p.Arg3135=)
|
rs148173878
|
|
NM_033305.3(VPS13A):c.9408G>A (p.Val3136=)
|
|
|
NM_033305.3(VPS13A):c.942T>C (p.Tyr314=)
|
|
|
NM_033305.3(VPS13A):c.9459C>T (p.Thr3153=)
|
rs1587730745
|
|
NM_033305.3(VPS13A):c.9465G>A (p.Glu3155=)
|
rs200351756
|
|
NM_033305.3(VPS13A):c.9471C>G (p.Ala3157=)
|
|
|
NM_033305.3(VPS13A):c.9474+15T>C
|
|
|
NM_033305.3(VPS13A):c.9474+16C>A
|
|
|
NM_033305.3(VPS13A):c.9474+16C>T
|
|
|
NM_033305.3(VPS13A):c.9474+16_9474+18dup
|
|
|
NM_033305.3(VPS13A):c.9474+16_9474+19dup
|
|
|
NM_033305.3(VPS13A):c.9474+17T>C
|
|
|
NM_033305.3(VPS13A):c.9474+20T>C
|
|
|
NM_033305.3(VPS13A):c.9474+9A>G
|
rs1333877708
|
|
NM_033305.3(VPS13A):c.9475-14T>A
|
|
|
NM_033305.3(VPS13A):c.9475-20C>T
|
|
|
NM_033305.3(VPS13A):c.9475-345_9475-12del
|
|
|
NM_033305.3(VPS13A):c.9475-8del
|
|
|
NM_033305.3(VPS13A):c.9475-9C>T
|
|
|
NM_033305.3(VPS13A):c.9501A>G (p.Ala3167=)
|
rs896250515
|
|
NM_033305.3(VPS13A):c.9510T>C (p.Pro3170=)
|
rs2131675966
|
|
NM_033305.3(VPS13A):c.9516G>C (p.Pro3172=)
|
|
|
NM_033305.3(VPS13A):c.9516G>T (p.Pro3172=)
|
rs370565019
|
|
NM_033305.3(VPS13A):c.9522C>G (p.Leu3174=)
|
rs1270303424
|
|
NM_033305.3(VPS13A):c.9522C>T (p.Leu3174=)
|
|
|
NM_033305.3(VPS13A):c.954A>G (p.Lys318=)
|
rs2131177111
|
|
NM_033305.3(VPS13A):c.963G>T (p.Val321=)
|
rs184828562
|
|
NM_033305.3(VPS13A):c.987A>G (p.Glu329=)
|
rs2131177202
|
|
NM_033305.3(VPS13A):c.989+12G>T
|
|
|
NM_033305.3(VPS13A):c.989+13del
|
|
|
NM_033305.3(VPS13A):c.989+18T>A
|
|
|
NM_033305.3(VPS13A):c.990-10T>C
|
rs1361925754
|
|
NM_033305.3(VPS13A):c.990-16T>C
|
|
|
NM_033305.3(VPS13A):c.990-19T>G
|
|
|
NM_033305.3(VPS13A):c.996T>G (p.Ala332=)
|
|
|