NM_152564.5(VPS13B):c.1206+33T>G
|
rs7460625
|
0.73774
|
NM_152564.5(VPS13B):c.10061+24G>A
|
rs34513504
|
0.23936
|
NM_152564.5(VPS13B):c.*1783C>T
|
rs7157
|
0.22293
|
NM_152564.5(VPS13B):c.3666+55T>C
|
rs3134156
|
0.17268
|
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
|
rs6468694
|
0.11916
|
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala)
|
rs7833870
|
0.09284
|
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)
|
rs61753724
|
0.07191
|
NM_152564.5(VPS13B):c.9331-2A>T
|
rs74485751
|
0.06492
|
NM_152564.5(VPS13B):c.*702dup
|
rs200421894
|
0.03823
|
NM_152564.5(VPS13B):c.3667-7C>T
|
rs35543295
|
0.03607
|
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=)
|
rs7844645
|
0.03400
|
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=)
|
rs34941871
|
0.02088
|
NM_152564.4(VPS13B):c.*1932T>G
|
rs10106711
|
0.01850
|
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=)
|
rs61753726
|
0.01526
|
NM_152564.5(VPS13B):c.9330+10T>A
|
rs75904081
|
0.01493
|
NM_152564.5(VPS13B):c.*336_*353dup
|
rs554420171
|
0.01237
|
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=)
|
rs115369860
|
0.01189
|
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln)
|
rs75933366
|
0.01162
|
NM_152564.5(VPS13B):c.11044+13G>A
|
rs116819080
|
0.01028
|
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=)
|
rs16897391
|
0.01022
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_152564.5(VPS13B):c.*1539A>G
|
rs80237506
|
0.00812
|
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=)
|
rs138667007
|
0.00801
|
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu)
|
rs35342235
|
0.00760
|
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=)
|
rs61742808
|
0.00740
|
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile)
|
rs116746734
|
0.00699
|
NM_152564.5(VPS13B):c.2934+14A>T
|
rs187151724
|
0.00690
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=)
|
rs145969836
|
0.00688
|
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=)
|
rs145648860
|
0.00688
|
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln)
|
rs61754113
|
0.00651
|
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)
|
rs138127778
|
0.00637
|
NM_152564.5(VPS13B):c.2451T>C (p.His817=)
|
rs114120664
|
0.00630
|
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)
|
rs113671330
|
0.00608
|
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=)
|
rs149796549
|
0.00535
|
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=)
|
rs150771329
|
0.00528
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)
|
rs61753725
|
0.00412
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=)
|
rs34961653
|
0.00377
|
NM_152564.5(VPS13B):c.7050+11A>G
|
rs114546856
|
0.00372
|
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu)
|
rs140848350
|
0.00331
|
NM_152564.5(VPS13B):c.*655G>C
|
rs78305289
|
0.00328
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_152564.5(VPS13B):c.4746-15T>C
|
rs117058417
|
0.00272
|
NM_152564.5(VPS13B):c.9330+9A>G
|
rs184381851
|
0.00261
|
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val)
|
rs112045467
|
0.00251
|
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)
|
rs148777544
|
0.00243
|
NM_152564.5(VPS13B):c.11392+8G>A
|
rs147921058
|
0.00242
|
NM_152564.5(VPS13B):c.*61G>A
|
rs189939258
|
0.00218
|
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val)
|
rs145547375
|
0.00215
|
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu)
|
rs144257406
|
0.00213
|
NM_152564.5(VPS13B):c.4746-14C>T
|
rs112780006
|
0.00212
|
NM_152564.5(VPS13B):c.*1355T>G
|
rs562826355
|
0.00204
|
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=)
|
rs113454700
|
0.00194
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile)
|
rs111353525
|
0.00170
|
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val)
|
rs139640224
|
0.00154
|
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)
|
rs138661755
|
0.00144
|
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr)
|
rs140015545
|
0.00144
|
NM_152564.5(VPS13B):c.2651-15A>C
|
rs370251406
|
0.00135
|
NM_152564.5(VPS13B):c.10824C>T (p.His3608=)
|
rs114818249
|
0.00126
|
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys)
|
rs150393340
|
0.00118
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_152564.5(VPS13B):c.4224+549C>T
|
rs182492131
|
0.00113
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_152564.5(VPS13B):c.*202T>A
|
rs201566966
|
0.00108
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
NM_152564.5(VPS13B):c.11495+19G>A
|
rs370575091
|
0.00097
|
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=)
|
rs150573530
|
0.00096
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=)
|
rs114038492
|
0.00088
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=)
|
rs145279584
|
0.00073
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00073
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_152564.5(VPS13B):c.11495+6A>G
|
rs116546060
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_152564.5(VPS13B):c.*831C>T
|
rs547185676
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_152564.5(VPS13B):c.*924A>C
|
rs186225330
|
0.00066
|
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)
|
rs112634620
|
0.00066
|
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)
|
rs73273219
|
0.00061
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
NM_152564.5(VPS13B):c.3211-11T>C
|
rs77129176
|
0.00050
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
NM_152564.5(VPS13B):c.6645A>C (p.Gly2215=)
|
rs147817990
|
0.00048
|
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser)
|
rs146460917
|
0.00047
|
NM_152564.5(VPS13B):c.711T>C (p.Arg237=)
|
rs140808736
|
0.00047
|
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile)
|
rs376498106
|
0.00042
|
NM_152564.5(VPS13B):c.8793-12T>A
|
rs189516672
|
0.00042
|
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)
|
rs140709787
|
0.00041
|
NM_152564.5(VPS13B):c.*743T>G
|
rs144603951
|
0.00038
|
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser)
|
rs147342579
|
0.00036
|
NM_152564.5(VPS13B):c.7430-11T>C
|
rs369223072
|
0.00035
|
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=)
|
rs767239312
|
0.00034
|
NM_152564.5(VPS13B):c.10867+11A>G
|
rs376656751
|
0.00034
|
NM_152564.5(VPS13B):c.*305G>A
|
rs149912942
|
0.00032
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
NM_152564.5(VPS13B):c.1843+16A>G
|
rs141433441
|
0.00031
|
NM_152564.5(VPS13B):c.3083-14A>G
|
rs373617404
|
0.00031
|
NM_152564.5(VPS13B):c.885C>T (p.Gly295=)
|
rs143112539
|
0.00031
|
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val)
|
rs376308074
|
0.00030
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=)
|
rs148033080
|
0.00030
|
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val)
|
rs202015701
|
0.00029
|
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)
|
rs184693266
|
0.00029
|
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=)
|
rs142380266
|
0.00029
|
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)
|
rs773242093
|
0.00029
|
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val)
|
rs202052403
|
0.00028
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala)
|
rs201483764
|
0.00025
|
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=)
|
rs140090983
|
0.00025
|
NM_152564.5(VPS13B):c.9783C>T (p.Ser3261=)
|
rs147242148
|
0.00025
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_152564.5(VPS13B):c.6752T>C (p.Val2251Ala)
|
rs147576864
|
0.00024
|
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)
|
rs201650333
|
0.00023
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
NM_152564.5(VPS13B):c.*1345C>T
|
rs778566330
|
0.00021
|
NM_152564.5(VPS13B):c.*745C>G
|
rs138761680
|
0.00021
|
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu)
|
rs138565077
|
0.00021
|
NM_152564.5(VPS13B):c.6072G>A (p.Lys2024=)
|
rs142850229
|
0.00021
|
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val)
|
rs141638933
|
0.00020
|
NM_152564.5(VPS13B):c.7752A>G (p.Leu2584=)
|
rs201735478
|
0.00020
|
NM_152564.5(VPS13B):c.10992C>T (p.Phe3664=)
|
rs575051014
|
0.00019
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00019
|
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro)
|
rs148704031
|
0.00019
|
NM_152564.5(VPS13B):c.6658-13T>A
|
rs369117364
|
0.00019
|
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=)
|
rs199941415
|
0.00018
|
NM_152564.5(VPS13B):c.8280T>C (p.Cys2760=)
|
rs145090492
|
0.00018
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_152564.5(VPS13B):c.6833G>A (p.Arg2278Gln)
|
rs748374112
|
0.00017
|
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys)
|
rs398124326
|
0.00016
|
NM_152564.5(VPS13B):c.10868-8C>T
|
rs770620321
|
0.00016
|
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile)
|
rs141793014
|
0.00016
|
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=)
|
rs147710096
|
0.00016
|
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)
|
rs145419141
|
0.00016
|
NM_152564.5(VPS13B):c.3083-9C>T
|
rs376659281
|
0.00016
|
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val)
|
rs201147123
|
0.00016
|
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=)
|
rs150376603
|
0.00016
|
NM_152564.5(VPS13B):c.4746-3C>A
|
rs199884841
|
0.00016
|
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)
|
rs368851580
|
0.00016
|
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His)
|
rs147099791
|
0.00016
|
NM_152564.5(VPS13B):c.1186A>G (p.Lys396Glu)
|
rs755937467
|
0.00015
|
NM_152564.5(VPS13B):c.4254T>G (p.His1418Gln)
|
rs201349007
|
0.00015
|
NM_152564.5(VPS13B):c.7434A>G (p.Ala2478=)
|
rs373550277
|
0.00015
|
NM_152564.5(VPS13B):c.8104A>T (p.Ile2702Phe)
|
rs774565889
|
0.00015
|
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)
|
rs150767461
|
0.00014
|
NM_152564.5(VPS13B):c.11215+12C>T
|
rs371237817
|
0.00014
|
NM_152564.5(VPS13B):c.11474A>G (p.Asn3825Ser)
|
rs199741560
|
0.00014
|
NM_152564.5(VPS13B):c.1207-11A>G
|
rs199984592
|
0.00014
|
NM_152564.5(VPS13B):c.1843+10T>C
|
rs371154826
|
0.00014
|
NM_152564.5(VPS13B):c.2333+12A>T
|
rs373498932
|
0.00014
|
NM_152564.5(VPS13B):c.2748A>G (p.Pro916=)
|
rs144830924
|
0.00014
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
NM_152564.5(VPS13B):c.4746-7T>C
|
rs201136777
|
0.00014
|
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=)
|
rs144223843
|
0.00014
|
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu)
|
rs202226215
|
0.00014
|
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala)
|
rs780702951
|
0.00014
|
NM_152564.5(VPS13B):c.1000T>C (p.Tyr334His)
|
rs150464408
|
0.00013
|
NM_152564.5(VPS13B):c.11215+13G>A
|
rs370691974
|
0.00013
|
NM_152564.5(VPS13B):c.1551A>C (p.Ser517=)
|
rs200635121
|
0.00013
|
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)
|
rs201566948
|
0.00013
|
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu)
|
rs201723380
|
0.00013
|
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg)
|
rs200327756
|
0.00013
|
NM_152564.5(VPS13B):c.6048G>A (p.Ala2016=)
|
rs200691718
|
0.00013
|
NM_152564.5(VPS13B):c.8750C>T (p.Ser2917Leu)
|
rs139732310
|
0.00013
|
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)
|
rs576577339
|
0.00013
|
NM_152564.5(VPS13B):c.10868-16C>T
|
rs371370357
|
0.00012
|
NM_152564.5(VPS13B):c.10980C>T (p.Gly3660=)
|
rs142939294
|
0.00012
|
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu)
|
rs142516047
|
0.00012
|
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala)
|
rs149866274
|
0.00012
|
NM_152564.5(VPS13B):c.4549C>T (p.Arg1517Cys)
|
rs375652507
|
0.00012
|
NM_152564.5(VPS13B):c.5612C>A (p.Thr1871Lys)
|
rs920484397
|
0.00012
|
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)
|
rs375399419
|
0.00012
|
NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys)
|
rs143787982
|
0.00012
|
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala)
|
rs376652526
|
0.00012
|
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)
|
rs191174682
|
0.00011
|
NM_152564.5(VPS13B):c.2472C>T (p.Ser824=)
|
rs766373133
|
0.00011
|
NM_152564.5(VPS13B):c.2880A>T (p.Leu960Phe)
|
rs760792770
|
0.00011
|
NM_152564.5(VPS13B):c.3621C>T (p.Leu1207=)
|
rs373889030
|
0.00011
|
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr)
|
rs143566455
|
0.00011
|
NM_152564.5(VPS13B):c.4829A>G (p.Asn1610Ser)
|
rs201587931
|
0.00011
|
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=)
|
rs370903187
|
0.00011
|
NM_152564.5(VPS13B):c.*1207G>C
|
rs182082022
|
0.00010
|
NM_152564.5(VPS13B):c.10845C>T (p.Ala3615=)
|
rs781485612
|
0.00010
|
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His)
|
rs186644576
|
0.00010
|
NM_152564.5(VPS13B):c.3088C>T (p.Arg1030Cys)
|
rs374072699
|
0.00010
|
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=)
|
rs200982547
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_152564.5(VPS13B):c.709C>T (p.Arg237Cys)
|
rs376296532
|
0.00010
|
NM_152564.5(VPS13B):c.7266T>C (p.Gly2422=)
|
rs766519309
|
0.00010
|
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser)
|
rs778256097
|
0.00010
|
NM_152564.5(VPS13B):c.10868-7G>A
|
rs376141593
|
0.00009
|
NM_152564.5(VPS13B):c.11885C>G (p.Pro3962Arg)
|
rs531619892
|
0.00009
|
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)
|
rs117934093
|
0.00009
|
NM_152564.5(VPS13B):c.1464G>A (p.Thr488=)
|
rs727504217
|
0.00009
|
NM_152564.5(VPS13B):c.1564-16A>T
|
rs373961851
|
0.00009
|
NM_152564.5(VPS13B):c.1762A>G (p.Ser588Gly)
|
rs759332797
|
0.00009
|
NM_152564.5(VPS13B):c.2013+20A>G
|
rs199709281
|
0.00009
|
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala)
|
rs374124369
|
0.00009
|
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met)
|
rs398124331
|
0.00009
|
NM_152564.5(VPS13B):c.3150A>G (p.Glu1050=)
|
rs144920754
|
0.00009
|
NM_152564.5(VPS13B):c.4791C>T (p.Ile1597=)
|
rs543837370
|
0.00009
|
NM_152564.5(VPS13B):c.4986C>T (p.Thr1662=)
|
rs148773425
|
0.00009
|
NM_152564.5(VPS13B):c.7164C>T (p.Leu2388=)
|
rs374136243
|
0.00009
|
NM_152564.5(VPS13B):c.7780-19C>T
|
rs199981958
|
0.00009
|
NM_152564.5(VPS13B):c.7950C>T (p.His2650=)
|
rs61754503
|
0.00009
|
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val)
|
rs369100428
|
0.00009
|
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val)
|
rs142110082
|
0.00009
|
NM_152564.5(VPS13B):c.9039G>A (p.Val3013=)
|
rs542823658
|
0.00009
|
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln)
|
rs141566041
|
0.00008
|
NM_152564.5(VPS13B):c.347C>G (p.Thr116Arg)
|
rs762421764
|
0.00008
|
NM_152564.5(VPS13B):c.3650A>C (p.Lys1217Thr)
|
rs138000928
|
0.00008
|
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg)
|
rs371961155
|
0.00008
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
NM_152564.5(VPS13B):c.560G>A (p.Arg187His)
|
rs150941426
|
0.00008
|
NM_152564.5(VPS13B):c.5631G>A (p.Arg1877=)
|
rs937213176
|
0.00008
|
NM_152564.5(VPS13B):c.8097+10T>C
|
rs971919054
|
0.00008
|
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=)
|
rs182347753
|
0.00008
|
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro)
|
rs199559979
|
0.00008
|
NM_152564.5(VPS13B):c.11542G>C (p.Asp3848His)
|
rs558917637
|
0.00007
|
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln)
|
rs147907236
|
0.00007
|
NM_152564.5(VPS13B):c.1303-4A>G
|
rs772842729
|
0.00007
|
NM_152564.5(VPS13B):c.329G>A (p.Arg110His)
|
rs61754110
|
0.00007
|
NM_152564.5(VPS13B):c.3766A>G (p.Met1256Val)
|
rs570925076
|
0.00007
|
NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu)
|
rs552843068
|
0.00007
|
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val)
|
rs368362777
|
0.00007
|
NM_152564.5(VPS13B):c.8177G>A (p.Gly2726Asp)
|
rs376283724
|
0.00007
|
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val)
|
rs145265055
|
0.00007
|
NM_152564.5(VPS13B):c.9338G>A (p.Arg3113His)
|
rs141408531
|
0.00007
|
NM_152564.5(VPS13B):c.9743-18C>G
|
rs760570932
|
0.00007
|
NM_152564.5(VPS13B):c.*304C>T
|
rs913240465
|
0.00006
|
NM_152564.5(VPS13B):c.10518A>T (p.Leu3506Phe)
|
rs759427770
|
0.00006
|
NM_152564.5(VPS13B):c.10549A>G (p.Lys3517Glu)
|
rs143187571
|
0.00006
|
NM_152564.5(VPS13B):c.1076A>G (p.Tyr359Cys)
|
rs727504216
|
0.00006
|
NM_152564.5(VPS13B):c.10868-11G>C
|
rs373157768
|
0.00006
|
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=)
|
rs771022240
|
0.00006
|
NM_152564.5(VPS13B):c.11052C>G (p.Leu3684=)
|
rs373428916
|
0.00006
|
NM_152564.5(VPS13B):c.11146C>T (p.Arg3716Trp)
|
rs773324603
|
0.00006
|
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys)
|
rs180177372
|
0.00006
|
NM_152564.5(VPS13B):c.11216-6T>C
|
rs780721865
|
0.00006
|
NM_152564.5(VPS13B):c.11447G>A (p.Ser3816Asn)
|
rs1419202718
|
0.00006
|
NM_152564.5(VPS13B):c.11495+18C>T
|
rs151025899
|
0.00006
|
NM_152564.5(VPS13B):c.11668G>A (p.Asp3890Asn)
|
rs771105877
|
0.00006
|
NM_152564.5(VPS13B):c.1209C>T (p.Leu403=)
|
rs756539595
|
0.00006
|
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala)
|
rs147448147
|
0.00006
|
NM_152564.5(VPS13B):c.1303-9G>A
|
rs370251445
|
0.00006
|
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile)
|
rs200519753
|
0.00006
|
NM_152564.5(VPS13B):c.2051C>T (p.Ser684Phe)
|
rs367999029
|
0.00006
|
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln)
|
rs371500701
|
0.00006
|
NM_152564.5(VPS13B):c.2617A>G (p.Met873Val)
|
rs745651556
|
0.00006
|
NM_152564.5(VPS13B):c.2655T>C (p.Asp885=)
|
rs769466569
|
0.00006
|
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly)
|
rs749751670
|
0.00006
|
NM_152564.5(VPS13B):c.2925T>C (p.His975=)
|
rs535722018
|
0.00006
|
NM_152564.5(VPS13B):c.3083-19T>A
|
rs544048511
|
0.00006
|
NM_152564.5(VPS13B):c.3559G>A (p.Val1187Ile)
|
rs151247807
|
0.00006
|
NM_152564.5(VPS13B):c.367C>T (p.Arg123Trp)
|
rs551933357
|
0.00006
|
NM_152564.5(VPS13B):c.4890G>A (p.Val1630=)
|
rs144069822
|
0.00006
|
NM_152564.5(VPS13B):c.5077-14C>T
|
rs181830964
|
0.00006
|
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr)
|
rs779082817
|
0.00006
|
NM_152564.5(VPS13B):c.6046+18T>G
|
rs1009720045
|
0.00006
|
NM_152564.5(VPS13B):c.611A>G (p.Asn204Ser)
|
rs201363767
|
0.00006
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
NM_152564.5(VPS13B):c.7623T>A (p.Ser2541Arg)
|
rs754632431
|
0.00006
|
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly)
|
rs140061281
|
0.00006
|
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys)
|
rs144350008
|
0.00006
|
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=)
|
rs376062743
|
0.00006
|
NM_152564.5(VPS13B):c.8102T>C (p.Ile2701Thr)
|
rs189689493
|
0.00006
|
NM_152564.5(VPS13B):c.8727C>T (p.Asp2909=)
|
rs201517365
|
0.00006
|
NM_152564.5(VPS13B):c.9183+16A>G
|
rs200565849
|
0.00006
|
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=)
|
rs373968888
|
0.00006
|
NM_152564.5(VPS13B):c.9657T>C (p.Tyr3219=)
|
rs780634043
|
0.00006
|
NM_152564.5(VPS13B):c.9830C>T (p.Pro3277Leu)
|
rs141138612
|
0.00006
|
NM_152564.5(VPS13B):c.9948G>A (p.Val3316=)
|
rs757595357
|
0.00006
|
NM_152564.5(VPS13B):c.*705T>C
|
rs886062554
|
0.00005
|
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=)
|
rs139227281
|
0.00005
|
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=)
|
rs145950999
|
0.00005
|
NM_152564.5(VPS13B):c.10939G>A (p.Ala3647Thr)
|
rs868118584
|
0.00005
|
NM_152564.5(VPS13B):c.11240A>G (p.Gln3747Arg)
|
rs779751988
|
0.00005
|
NM_152564.5(VPS13B):c.1530C>T (p.Arg510=)
|
rs149919865
|
0.00005
|
NM_152564.5(VPS13B):c.1652-9T>A
|
rs375615155
|
0.00005
|
NM_152564.5(VPS13B):c.1754G>A (p.Arg585His)
|
rs773472945
|
0.00005
|
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr)
|
rs148788159
|
0.00005
|
NM_152564.5(VPS13B):c.2650+17C>T
|
rs753268999
|
0.00005
|
NM_152564.5(VPS13B):c.291+19A>G
|
rs200474579
|
0.00005
|
NM_152564.5(VPS13B):c.3180T>C (p.Val1060=)
|
rs528478636
|
0.00005
|
NM_152564.5(VPS13B):c.3379G>T (p.Gly1127Trp)
|
rs117357319
|
0.00005
|
NM_152564.5(VPS13B):c.3873A>G (p.Gly1291=)
|
rs772263007
|
0.00005
|
NM_152564.5(VPS13B):c.4876G>A (p.Val1626Ile)
|
rs138577821
|
0.00005
|
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe)
|
rs763052877
|
0.00005
|
NM_152564.5(VPS13B):c.5909-14T>C
|
rs377274392
|
0.00005
|
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser)
|
rs534471615
|
0.00005
|
NM_152564.5(VPS13B):c.6713A>G (p.Asn2238Ser)
|
rs141275433
|
0.00005
|
NM_152564.5(VPS13B):c.6983C>G (p.Thr2328Ser)
|
rs764775015
|
0.00005
|
NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu)
|
rs183874686
|
0.00005
|
NM_152564.5(VPS13B):c.7718T>C (p.Phe2573Ser)
|
rs199528303
|
0.00005
|
NM_152564.5(VPS13B):c.8423A>G (p.Asn2808Ser)
|
rs368357351
|
0.00005
|
NM_152564.5(VPS13B):c.9608G>C (p.Cys3203Ser)
|
rs747611342
|
0.00005
|
NM_017890.5(VPS13B):c.4231C>T (p.Arg1411Cys)
|
rs376954713
|
0.00004
|
NM_152564.5(VPS13B):c.*1540T>C
|
rs148026916
|
0.00004
|
NM_152564.5(VPS13B):c.10200G>A (p.Pro3400=)
|
rs151315104
|
0.00004
|
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe)
|
rs200268089
|
0.00004
|
NM_152564.5(VPS13B):c.10650C>T (p.His3550=)
|
rs372367817
|
0.00004
|
NM_152564.5(VPS13B):c.10714G>A (p.Val3572Ile)
|
rs369258469
|
0.00004
|
NM_152564.5(VPS13B):c.10809G>A (p.Ala3603=)
|
rs768029540
|
0.00004
|
NM_152564.5(VPS13B):c.10846G>A (p.Ala3616Thr)
|
rs149659649
|
0.00004
|
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=)
|
rs773474909
|
0.00004
|
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)
|
rs745337140
|
0.00004
|
NM_152564.5(VPS13B):c.11001C>T (p.Gly3667=)
|
rs367797468
|
0.00004
|
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys)
|
rs370172252
|
0.00004
|
NM_152564.5(VPS13B):c.11098C>T (p.Arg3700Trp)
|
rs779427167
|
0.00004
|
NM_152564.5(VPS13B):c.11129G>A (p.Arg3710Gln)
|
rs987017060
|
0.00004
|
NM_152564.5(VPS13B):c.11208C>T (p.Ser3736=)
|
rs751880506
|
0.00004
|
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys)
|
rs369891888
|
0.00004
|
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=)
|
rs760377055
|
0.00004
|
NM_152564.5(VPS13B):c.1168A>G (p.Ile390Val)
|
rs563261178
|
0.00004
|
NM_152564.5(VPS13B):c.11883C>G (p.Pro3961=)
|
rs763272836
|
0.00004
|
NM_152564.5(VPS13B):c.11973C>T (p.Ala3991=)
|
rs533954733
|
0.00004
|
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=)
|
rs765163542
|
0.00004
|
NM_152564.5(VPS13B):c.1302+12A>G
|
rs373595907
|
0.00004
|
NM_152564.5(VPS13B):c.1365G>A (p.Met455Ile)
|
rs1187769339
|
0.00004
|
NM_152564.5(VPS13B):c.1425+9G>A
|
rs551460373
|
0.00004
|
NM_152564.5(VPS13B):c.1520A>G (p.Asn507Ser)
|
rs749312835
|
0.00004
|
NM_152564.5(VPS13B):c.1564-15T>C
|
rs367784958
|
0.00004
|
NM_152564.5(VPS13B):c.1594C>T (p.Arg532Trp)
|
rs369930405
|
0.00004
|
NM_152564.5(VPS13B):c.1627A>G (p.Thr543Ala)
|
rs372625091
|
0.00004
|
NM_152564.5(VPS13B):c.1748A>G (p.Asp583Gly)
|
rs368595026
|
0.00004
|
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)
|
rs138171489
|
0.00004
|
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala)
|
rs398124329
|
0.00004
|
NM_152564.5(VPS13B):c.2016C>T (p.Asn672=)
|
rs780448792
|
0.00004
|
NM_152564.5(VPS13B):c.2137C>T (p.His713Tyr)
|
rs796181999
|
0.00004
|
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met)
|
rs199574731
|
0.00004
|
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly)
|
rs112858205
|
0.00004
|
NM_152564.5(VPS13B):c.2328A>G (p.Thr776=)
|
rs760800494
|
0.00004
|
NM_152564.5(VPS13B):c.2438A>G (p.Gln813Arg)
|
rs146195479
|
0.00004
|
NM_152564.5(VPS13B):c.2509A>T (p.Ser837Cys)
|
rs201872788
|
0.00004
|
NM_152564.5(VPS13B):c.2651-8C>A
|
rs201628860
|
0.00004
|
NM_152564.5(VPS13B):c.2673G>T (p.Leu891Phe)
|
rs770484465
|
0.00004
|
NM_152564.5(VPS13B):c.2823C>T (p.Ser941=)
|
rs199881514
|
0.00004
|
NM_152564.5(VPS13B):c.2824G>A (p.Gly942Ser)
|
rs370336663
|
0.00004
|
NM_152564.5(VPS13B):c.2825-4T>A
|
rs201354177
|
0.00004
|
NM_152564.5(VPS13B):c.3082+9C>G
|
rs529476662
|
0.00004
|
NM_152564.5(VPS13B):c.3262C>G (p.Pro1088Ala)
|
rs373965494
|
0.00004
|
NM_152564.5(VPS13B):c.3432C>T (p.Pro1144=)
|
rs375994361
|
0.00004
|
NM_152564.5(VPS13B):c.345C>T (p.Ser115=)
|
rs372489158
|
0.00004
|
NM_152564.5(VPS13B):c.3535A>G (p.Met1179Val)
|
rs764040349
|
0.00004
|
NM_152564.5(VPS13B):c.3564G>A (p.Thr1188=)
|
rs140905518
|
0.00004
|
NM_152564.5(VPS13B):c.3584C>T (p.Thr1195Met)
|
rs778388170
|
0.00004
|
NM_152564.5(VPS13B):c.366G>A (p.Pro122=)
|
rs373340298
|
0.00004
|
NM_152564.5(VPS13B):c.3784A>G (p.Thr1262Ala)
|
rs199872639
|
0.00004
|
NM_152564.5(VPS13B):c.3843A>G (p.Pro1281=)
|
rs766922292
|
0.00004
|
NM_152564.5(VPS13B):c.3955A>G (p.Ser1319Gly)
|
rs374363141
|
0.00004
|
NM_152564.5(VPS13B):c.4157+5A>G
|
rs201027029
|
0.00004
|
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=)
|
rs754939057
|
0.00004
|
NM_152564.5(VPS13B):c.4285A>T (p.Thr1429Ser)
|
rs764653250
|
0.00004
|
NM_152564.5(VPS13B):c.4356A>T (p.Leu1452Phe)
|
rs61754112
|
0.00004
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_152564.5(VPS13B):c.4796A>G (p.Asp1599Gly)
|
rs1288339042
|
0.00004
|
NM_152564.5(VPS13B):c.4950-18T>G
|
rs188457078
|
0.00004
|
NM_152564.5(VPS13B):c.4950-9A>G
|
rs373474658
|
0.00004
|
NM_152564.5(VPS13B):c.5044A>G (p.Lys1682Glu)
|
rs965365158
|
0.00004
|
NM_152564.5(VPS13B):c.5077-13G>A
|
rs376055963
|
0.00004
|
NM_152564.5(VPS13B):c.510C>T (p.Ser170=)
|
rs749836132
|
0.00004
|
NM_152564.5(VPS13B):c.511G>A (p.Val171Ile)
|
rs529286193
|
0.00004
|
NM_152564.5(VPS13B):c.5378G>A (p.Arg1793His)
|
rs763703607
|
0.00004
|
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His)
|
rs755227174
|
0.00004
|
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly)
|
rs373678127
|
0.00004
|
NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys)
|
rs774677234
|
0.00004
|
NM_152564.5(VPS13B):c.5636G>A (p.Ser1879Asn)
|
rs760882381
|
0.00004
|
NM_152564.5(VPS13B):c.6047-10A>G
|
rs761450531
|
0.00004
|
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe)
|
rs374298481
|
0.00004
|
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu)
|
rs369932118
|
0.00004
|
NM_152564.5(VPS13B):c.6658-8T>C
|
rs1448547844
|
0.00004
|
NM_152564.5(VPS13B):c.6832C>T (p.Arg2278Trp)
|
rs781460252
|
0.00004
|
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser)
|
rs750125340
|
0.00004
|
NM_152564.5(VPS13B):c.6979A>G (p.Ile2327Val)
|
rs761504023
|
0.00004
|
NM_152564.5(VPS13B):c.7245A>G (p.Gln2415=)
|
rs781046978
|
0.00004
|
NM_152564.5(VPS13B):c.7291G>A (p.Val2431Met)
|
rs138405323
|
0.00004
|
NM_152564.5(VPS13B):c.7429+4C>A
|
rs757079639
|
0.00004
|
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu)
|
rs144668374
|
0.00004
|
NM_152564.5(VPS13B):c.7848A>G (p.Thr2616=)
|
rs757256533
|
0.00004
|
NM_152564.5(VPS13B):c.8097+19A>G
|
rs1200902916
|
0.00004
|
NM_152564.5(VPS13B):c.8713A>C (p.Asn2905His)
|
rs770344131
|
0.00004
|
NM_152564.5(VPS13B):c.8994+16T>A
|
rs764950051
|
0.00004
|
NM_152564.5(VPS13B):c.9135G>A (p.Ala3045=)
|
rs574238919
|
0.00004
|
NM_152564.5(VPS13B):c.9568G>C (p.Val3190Leu)
|
rs775768806
|
0.00004
|
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln)
|
rs544366805
|
0.00004
|
NM_152564.5(VPS13B):c.9742+18G>A
|
rs747567587
|
0.00004
|
NM_152564.5(VPS13B):c.9745A>G (p.Ile3249Val)
|
rs1314210823
|
0.00004
|
NM_152564.5(VPS13B):c.9786G>A (p.Glu3262=)
|
rs138221649
|
0.00004
|
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=)
|
rs143728471
|
0.00004
|
NM_152564.5(VPS13B):c.9921C>T (p.Asp3307=)
|
rs754001219
|
0.00004
|
NM_152564.5(VPS13B):c.9993G>A (p.Gln3331=)
|
rs201746251
|
0.00004
|
NM_152564.5(VPS13B):c.*140G>A
|
rs535987441
|
0.00003
|
NM_152564.5(VPS13B):c.*637C>G
|
rs565441903
|
0.00003
|
NM_152564.5(VPS13B):c.10082C>A (p.Thr3361Lys)
|
rs1219748926
|
0.00003
|
NM_152564.5(VPS13B):c.10533A>G (p.Thr3511=)
|
rs763725361
|
0.00003
|
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile)
|
rs781253026
|
0.00003
|
NM_152564.5(VPS13B):c.10611C>T (p.Ser3537=)
|
rs779390295
|
0.00003
|
NM_152564.5(VPS13B):c.10643C>T (p.Thr3548Ile)
|
rs750693109
|
0.00003
|
NM_152564.5(VPS13B):c.10713C>T (p.Leu3571=)
|
rs756468150
|
0.00003
|
NM_152564.5(VPS13B):c.10725C>T (p.His3575=)
|
rs757408143
|
0.00003
|
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn)
|
rs201965789
|
0.00003
|
NM_152564.5(VPS13B):c.10827C>G (p.Ala3609=)
|
rs765577341
|
0.00003
|
NM_152564.5(VPS13B):c.10868-18C>T
|
rs755945215
|
0.00003
|
NM_152564.5(VPS13B):c.11021C>T (p.Ser3674Leu)
|
rs771376605
|
0.00003
|
NM_152564.5(VPS13B):c.11044+5C>T
|
rs764708878
|
0.00003
|
NM_152564.5(VPS13B):c.11086C>T (p.Arg3696Trp)
|
rs147891367
|
0.00003
|
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile)
|
rs753781360
|
0.00003
|
NM_152564.5(VPS13B):c.11523A>T (p.Pro3841=)
|
rs755978513
|
0.00003
|
NM_152564.5(VPS13B):c.11710C>G (p.Gln3904Glu)
|
rs545957190
|
0.00003
|
NM_152564.5(VPS13B):c.11745+5G>A
|
rs398124328
|
0.00003
|
NM_152564.5(VPS13B):c.1206+23T>A
|
rs745316537
|
0.00003
|
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=)
|
rs760564848
|
0.00003
|
NM_152564.5(VPS13B):c.1888G>A (p.Ala630Thr)
|
rs768721417
|
0.00003
|
NM_152564.5(VPS13B):c.1904A>G (p.Tyr635Cys)
|
rs761692416
|
0.00003
|
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp)
|
rs148047632
|
0.00003
|
NM_152564.5(VPS13B):c.2235G>A (p.Thr745=)
|
rs557250154
|
0.00003
|
NM_152564.5(VPS13B):c.2322C>T (p.Leu774=)
|
rs376216240
|
0.00003
|
NM_152564.5(VPS13B):c.2628A>G (p.Ile876Met)
|
rs1198845715
|
0.00003
|
NM_152564.5(VPS13B):c.2687A>G (p.Gln896Arg)
|
rs1269673113
|
0.00003
|
NM_152564.5(VPS13B):c.2808C>T (p.Asp936=)
|
rs377174760
|
0.00003
|
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)
|
rs547184348
|
0.00003
|
NM_152564.5(VPS13B):c.2935-4C>T
|
rs207469601
|
0.00003
|
NM_152564.5(VPS13B):c.3089G>A (p.Arg1030His)
|
rs182764947
|
0.00003
|
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met)
|
rs191099208
|
0.00003
|
NM_152564.5(VPS13B):c.3568C>A (p.Gln1190Lys)
|
rs1819175134
|
0.00003
|
NM_152564.5(VPS13B):c.3666+6T>C
|
rs374468508
|
0.00003
|
NM_152564.5(VPS13B):c.3871-8C>T
|
rs371508311
|
0.00003
|
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His)
|
rs200229383
|
0.00003
|
NM_152564.5(VPS13B):c.4310G>A (p.Arg1437His)
|
rs750810791
|
0.00003
|
NM_152564.5(VPS13B):c.450T>C (p.Asn150=)
|
rs746257136
|
0.00003
|
NM_152564.5(VPS13B):c.4569T>A (p.Tyr1523Ter)
|
rs1361356353
|
0.00003
|
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val)
|
rs578203757
|
0.00003
|
NM_152564.5(VPS13B):c.4711C>T (p.Leu1571Phe)
|
rs1481675275
|
0.00003
|
NM_152564.5(VPS13B):c.4772G>A (p.Arg1591Gln)
|
rs754267693
|
0.00003
|
NM_152564.5(VPS13B):c.5012G>A (p.Arg1671Gln)
|
rs565360322
|
0.00003
|
NM_152564.5(VPS13B):c.5072C>G (p.Thr1691Ser)
|
rs966152558
|
0.00003
|
NM_152564.5(VPS13B):c.5270C>T (p.Ala1757Val)
|
rs1055918734
|
0.00003
|
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His)
|
rs587780498
|
0.00003
|
NM_152564.5(VPS13B):c.5377C>T (p.Arg1793Cys)
|
rs760207080
|
0.00003
|
NM_152564.5(VPS13B):c.5660A>C (p.Lys1887Thr)
|
rs757219665
|
0.00003
|
NM_152564.5(VPS13B):c.5667G>A (p.Gly1889=)
|
rs1196457576
|
0.00003
|
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala)
|
rs112749780
|
0.00003
|
NM_152564.5(VPS13B):c.581-10T>C
|
rs770058631
|
0.00003
|
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe)
|
rs759411797
|
0.00003
|
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys)
|
rs1226670439
|
0.00003
|
NM_152564.5(VPS13B):c.6528C>T (p.Ser2176=)
|
rs752917912
|
0.00003
|
NM_152564.5(VPS13B):c.6539T>C (p.Ile2180Thr)
|
rs1037803923
|
0.00003
|
NM_152564.5(VPS13B):c.6652C>A (p.Leu2218Ile)
|
rs559107679
|
0.00003
|
NM_152564.5(VPS13B):c.7156A>G (p.Ile2386Val)
|
rs370689956
|
0.00003
|
NM_152564.5(VPS13B):c.723A>G (p.Thr241=)
|
rs778049327
|
0.00003
|
NM_152564.5(VPS13B):c.7248-1G>A
|
rs763079458
|
0.00003
|
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=)
|
rs886043216
|
0.00003
|
NM_152564.5(VPS13B):c.7319C>T (p.Thr2440Ile)
|
rs777428883
|
0.00003
|
NM_152564.5(VPS13B):c.7529G>A (p.Arg2510Gln)
|
rs146092684
|
0.00003
|
NM_152564.5(VPS13B):c.7620A>C (p.Gln2540His)
|
rs1333115796
|
0.00003
|
NM_152564.5(VPS13B):c.7792G>A (p.Glu2598Lys)
|
rs202238616
|
0.00003
|
NM_152564.5(VPS13B):c.7853G>A (p.Arg2618Gln)
|
rs569563358
|
0.00003
|
NM_152564.5(VPS13B):c.8087T>C (p.Val2696Ala)
|
rs755015601
|
0.00003
|
NM_152564.5(VPS13B):c.8161G>A (p.Val2721Ile)
|
rs748674763
|
0.00003
|
NM_152564.5(VPS13B):c.8361+13G>A
|
rs757732868
|
0.00003
|
NM_152564.5(VPS13B):c.8390A>G (p.Tyr2797Cys)
|
rs371325199
|
0.00003
|
NM_152564.5(VPS13B):c.8441G>A (p.Arg2814Gln)
|
rs148333124
|
0.00003
|
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=)
|
rs763701016
|
0.00003
|
NM_152564.5(VPS13B):c.8710G>A (p.Val2904Ile)
|
rs750349908
|
0.00003
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
NM_152564.5(VPS13B):c.8793-13G>T
|
rs374758899
|
0.00003
|
NM_152564.5(VPS13B):c.886G>A (p.Glu296Lys)
|
rs886062535
|
0.00003
|
NM_152564.5(VPS13B):c.90A>G (p.Leu30=)
|
rs771860546
|
0.00003
|
NM_152564.5(VPS13B):c.9421T>C (p.Leu3141=)
|
rs373968887
|
0.00003
|
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr)
|
rs1044976516
|
0.00003
|
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg)
|
rs772658121
|
0.00003
|
NM_152564.5(VPS13B):c.9850T>G (p.Leu3284Val)
|
rs761596624
|
0.00003
|
NM_152564.5(VPS13B):c.9942+9G>T
|
rs942110632
|
0.00003
|
NM_152564.5(VPS13B):c.99A>G (p.Gly33=)
|
rs775498611
|
0.00003
|
NM_017890.5(VPS13B):c.4198G>A (p.Val1400Ile)
|
rs374008116
|
0.00002
|
NM_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr)
|
rs144187978
|
0.00002
|
NM_152564.5(VPS13B):c.10062-7C>T
|
rs1588785807
|
0.00002
|
NM_152564.5(VPS13B):c.10135C>T (p.His3379Tyr)
|
rs377394274
|
0.00002
|
NM_152564.5(VPS13B):c.10169C>T (p.Thr3390Ile)
|
rs767783667
|
0.00002
|
NM_152564.5(VPS13B):c.10239G>A (p.Ala3413=)
|
rs749865979
|
0.00002
|
NM_152564.5(VPS13B):c.10241T>C (p.Leu3414Ser)
|
rs142411465
|
0.00002
|
NM_152564.5(VPS13B):c.10448C>T (p.Thr3483Ile)
|
rs367609176
|
0.00002
|
NM_152564.5(VPS13B):c.10584G>A (p.Arg3528=)
|
rs141266642
|
0.00002
|
NM_152564.5(VPS13B):c.10614G>A (p.Gly3538=)
|
rs753338038
|
0.00002
|
NM_152564.5(VPS13B):c.10663G>A (p.Val3555Met)
|
rs745866775
|
0.00002
|
NM_152564.5(VPS13B):c.1079del (p.Asp360fs)
|
rs767518464
|
0.00002
|
NM_152564.5(VPS13B):c.10942G>A (p.Asp3648Asn)
|
rs748727467
|
0.00002
|
NM_152564.5(VPS13B):c.10958C>T (p.Pro3653Leu)
|
rs749689354
|
0.00002
|
NM_152564.5(VPS13B):c.11049C>T (p.Thr3683=)
|
rs1474618669
|
0.00002
|
NM_152564.5(VPS13B):c.11058C>T (p.Ser3686=)
|
rs1242117872
|
0.00002
|
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp)
|
rs560723051
|
0.00002
|
NM_152564.5(VPS13B):c.11218G>A (p.Ala3740Thr)
|
rs749392832
|
0.00002
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg)
|
rs549702100
|
0.00002
|
NM_152564.5(VPS13B):c.11495+10T>C
|
rs1250469602
|
0.00002
|
NM_152564.5(VPS13B):c.11691G>C (p.Gln3897His)
|
rs371985144
|
0.00002
|
NM_152564.5(VPS13B):c.11715C>A (p.Leu3905=)
|
rs755448442
|
0.00002
|
NM_152564.5(VPS13B):c.11757C>T (p.Val3919=)
|
rs757616720
|
0.00002
|
NM_152564.5(VPS13B):c.11877A>C (p.Glu3959Asp)
|
rs774988681
|
0.00002
|
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met)
|
rs753703762
|
0.00002
|
NM_152564.5(VPS13B):c.1303-10C>T
|
rs748144840
|
0.00002
|
NM_152564.5(VPS13B):c.1303-12T>G
|
rs776676353
|
0.00002
|
NM_152564.5(VPS13B):c.1357A>G (p.Arg453Gly)
|
rs767057004
|
0.00002
|
NM_152564.5(VPS13B):c.1425+8C>T
|
rs758851977
|
0.00002
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
NM_152564.5(VPS13B):c.1531G>A (p.Ala511Thr)
|
rs368241718
|
0.00002
|
NM_152564.5(VPS13B):c.1735A>G (p.Ile579Val)
|
rs750419805
|
0.00002
|
NM_152564.5(VPS13B):c.1776T>C (p.His592=)
|
rs756818683
|
0.00002
|
NM_152564.5(VPS13B):c.1865C>T (p.Thr622Ile)
|
rs147043610
|
0.00002
|
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)
|
rs764776104
|
0.00002
|
NM_152564.5(VPS13B):c.2014-12A>G
|
rs559491564
|
0.00002
|
NM_152564.5(VPS13B):c.203A>G (p.His68Arg)
|
rs368511311
|
0.00002
|
NM_152564.5(VPS13B):c.2243A>G (p.Asp748Gly)
|
rs145988999
|
0.00002
|
NM_152564.5(VPS13B):c.2272C>G (p.Pro758Ala)
|
rs1483935385
|
0.00002
|
NM_152564.5(VPS13B):c.2333+11C>A
|
rs757148916
|
0.00002
|
NM_152564.5(VPS13B):c.2334-3C>T
|
rs749105779
|
0.00002
|
NM_152564.5(VPS13B):c.2419C>G (p.Leu807Val)
|
rs780214074
|
0.00002
|
NM_152564.5(VPS13B):c.2515+8C>T
|
rs758789053
|
0.00002
|
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=)
|
rs199868590
|
0.00002
|
NM_152564.5(VPS13B):c.2650+10G>A
|
rs1478294396
|
0.00002
|
NM_152564.5(VPS13B):c.2667G>T (p.Glu889Asp)
|
rs369849286
|
0.00002
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
NM_152564.5(VPS13B):c.2935-8C>G
|
rs762645139
|
0.00002
|
NM_152564.5(VPS13B):c.3106G>A (p.Val1036Ile)
|
rs745742179
|
0.00002
|
NM_152564.5(VPS13B):c.3162G>A (p.Lys1054=)
|
rs776213275
|
0.00002
|
NM_152564.5(VPS13B):c.3332C>T (p.Pro1111Leu)
|
rs576973103
|
0.00002
|
NM_152564.5(VPS13B):c.3385A>G (p.Lys1129Glu)
|
rs371315874
|
0.00002
|
NM_152564.5(VPS13B):c.3533C>G (p.Pro1178Arg)
|
rs1391680745
|
0.00002
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
NM_152564.5(VPS13B):c.3673C>G (p.Leu1225Val)
|
rs1343599639
|
0.00002
|
NM_152564.5(VPS13B):c.3692A>G (p.Asp1231Gly)
|
rs1289522615
|
0.00002
|
NM_152564.5(VPS13B):c.3714C>T (p.Asn1238=)
|
rs749086106
|
0.00002
|
NM_152564.5(VPS13B):c.3792A>G (p.Pro1264=)
|
rs778016570
|
0.00002
|
NM_152564.5(VPS13B):c.3799A>C (p.Ser1267Arg)
|
rs749167191
|
0.00002
|
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=)
|
rs775071483
|
0.00002
|
NM_152564.5(VPS13B):c.3826A>G (p.Thr1276Ala)
|
rs746514520
|
0.00002
|
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala)
|
rs752808333
|
0.00002
|
NM_152564.5(VPS13B):c.3870+20C>T
|
rs569308241
|
0.00002
|
NM_152564.5(VPS13B):c.4045G>T (p.Val1349Phe)
|
rs780981868
|
0.00002
|
NM_152564.5(VPS13B):c.4224+560C>T
|
rs368951087
|
0.00002
|
NM_152564.5(VPS13B):c.4224+724A>G
|
rs780003978
|
0.00002
|
NM_152564.5(VPS13B):c.4225-10T>C
|
rs758652475
|
0.00002
|
NM_152564.5(VPS13B):c.453A>G (p.Val151=)
|
rs148436198
|
0.00002
|
NM_152564.5(VPS13B):c.4570G>T (p.Val1524Phe)
|
rs200774003
|
0.00002
|
NM_152564.5(VPS13B):c.4779T>C (p.Pro1593=)
|
rs764443970
|
0.00002
|
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=)
|
rs765924507
|
0.00002
|
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln)
|
rs138148013
|
0.00002
|
NM_152564.5(VPS13B):c.4958G>A (p.Arg1653Gln)
|
rs751699219
|
0.00002
|
NM_152564.5(VPS13B):c.5120C>T (p.Thr1707Ile)
|
rs1430604594
|
0.00002
|
NM_152564.5(VPS13B):c.5235A>C (p.Glu1745Asp)
|
rs751179813
|
0.00002
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
NM_152564.5(VPS13B):c.5295T>C (p.Gly1765=)
|
rs139459037
|
0.00002
|
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)
|
rs763909903
|
0.00002
|
NM_152564.5(VPS13B):c.5395C>T (p.Arg1799Cys)
|
rs751912986
|
0.00002
|
NM_152564.5(VPS13B):c.5781G>T (p.Glu1927Asp)
|
rs1479745735
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_152564.5(VPS13B):c.5850G>A (p.Val1950=)
|
rs747547095
|
0.00002
|
NM_152564.5(VPS13B):c.6031T>G (p.Phe2011Val)
|
rs534890892
|
0.00002
|
NM_152564.5(VPS13B):c.6229C>T (p.Arg2077Cys)
|
rs780180063
|
0.00002
|
NM_152564.5(VPS13B):c.6260G>A (p.Gly2087Asp)
|
rs1184175662
|
0.00002
|
NM_152564.5(VPS13B):c.6455-13A>G
|
rs1832959231
|
0.00002
|
NM_152564.5(VPS13B):c.6719A>T (p.Tyr2240Phe)
|
rs762982977
|
0.00002
|
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=)
|
rs760171272
|
0.00002
|
NM_152564.5(VPS13B):c.690C>T (p.Tyr230=)
|
rs553150517
|
0.00002
|
NM_152564.5(VPS13B):c.6954A>G (p.Glu2318=)
|
rs745811385
|
0.00002
|
NM_152564.5(VPS13B):c.69G>A (p.Pro23=)
|
rs570877761
|
0.00002
|
NM_152564.5(VPS13B):c.7243C>A (p.Gln2415Lys)
|
rs755052081
|
0.00002
|
NM_152564.5(VPS13B):c.732C>T (p.Asn244=)
|
rs774354165
|
0.00002
|
NM_152564.5(VPS13B):c.7365C>T (p.Cys2455=)
|
rs748588048
|
0.00002
|
NM_152564.5(VPS13B):c.7429+18A>G
|
rs374929892
|
0.00002
|
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=)
|
rs913138802
|
0.00002
|
NM_152564.5(VPS13B):c.7579G>A (p.Ala2527Thr)
|
rs369062407
|
0.00002
|
NM_152564.5(VPS13B):c.7645T>C (p.Phe2549Leu)
|
rs377498258
|
0.00002
|
NM_152564.5(VPS13B):c.7659A>C (p.Ala2553=)
|
rs776995646
|
0.00002
|
NM_152564.5(VPS13B):c.7698C>T (p.Thr2566=)
|
rs750908734
|
0.00002
|
NM_152564.5(VPS13B):c.7893G>A (p.Ala2631=)
|
rs145460276
|
0.00002
|
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His)
|
rs398124338
|
0.00002
|
NM_152564.5(VPS13B):c.7942-13T>G
|
rs761317351
|
0.00002
|
NM_152564.5(VPS13B):c.7942-19T>A
|
rs200318613
|
0.00002
|
NM_152564.5(VPS13B):c.8011G>A (p.Gly2671Arg)
|
rs568716604
|
0.00002
|
NM_152564.5(VPS13B):c.8040G>C (p.Arg2680Ser)
|
rs145899918
|
0.00002
|
NM_152564.5(VPS13B):c.8049T>C (p.Thr2683=)
|
rs765550072
|
0.00002
|
NM_152564.5(VPS13B):c.8118G>A (p.Gln2706=)
|
rs752661758
|
0.00002
|
NM_152564.5(VPS13B):c.8200C>T (p.Arg2734Trp)
|
rs749023338
|
0.00002
|
NM_152564.5(VPS13B):c.8202G>C (p.Arg2734=)
|
rs759728712
|
0.00002
|
NM_152564.5(VPS13B):c.825T>G (p.Ile275Met)
|
rs769413380
|
0.00002
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
NM_152564.5(VPS13B):c.8445+50del
|
rs761647040
|
0.00002
|
NM_152564.5(VPS13B):c.857A>G (p.Tyr286Cys)
|
rs753075331
|
0.00002
|
NM_152564.5(VPS13B):c.8621+18C>T
|
rs752131066
|
0.00002
|
NM_152564.5(VPS13B):c.8639C>T (p.Ser2880Leu)
|
rs760166376
|
0.00002
|
NM_152564.5(VPS13B):c.8645G>T (p.Cys2882Phe)
|
rs954722328
|
0.00002
|
NM_152564.5(VPS13B):c.865A>G (p.Ile289Val)
|
rs943316620
|
0.00002
|
NM_152564.5(VPS13B):c.8793-16G>A
|
rs1454120026
|
0.00002
|
NM_152564.5(VPS13B):c.8793-4A>T
|
rs1158582777
|
0.00002
|
NM_152564.5(VPS13B):c.8828G>A (p.Arg2943Gln)
|
rs777528760
|
0.00002
|
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu)
|
rs146883974
|
0.00002
|
NM_152564.5(VPS13B):c.9330+17G>A
|
rs375248298
|
0.00002
|
NM_152564.5(VPS13B):c.9391A>G (p.Met3131Val)
|
rs1241294111
|
0.00002
|
NM_152564.5(VPS13B):c.9391_9396dup (p.Met3131_Lys3132dup)
|
rs747778859
|
0.00002
|
NM_152564.5(VPS13B):c.9399C>T (p.Ser3133=)
|
rs773831188
|
0.00002
|
NM_152564.5(VPS13B):c.9400A>G (p.Ser3134Gly)
|
rs138889735
|
0.00002
|
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=)
|
rs189680814
|
0.00002
|
NM_152564.5(VPS13B):c.9588T>C (p.Asn3196=)
|
rs761906678
|
0.00002
|
NM_152564.5(VPS13B):c.9742+10A>G
|
rs755760611
|
0.00002
|
NM_152564.5(VPS13B):c.9742+2dup
|
rs770968105
|
0.00002
|
NM_152564.5(VPS13B):c.9780C>T (p.Pro3260=)
|
rs781671301
|
0.00002
|
NM_152564.5(VPS13B):c.9788G>A (p.Cys3263Tyr)
|
rs749573516
|
0.00002
|
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=)
|
rs1397608904
|
0.00002
|
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=)
|
rs775601813
|
0.00002
|
NM_152564.5(VPS13B):c.9917T>C (p.Ile3306Thr)
|
rs139575184
|
0.00002
|
NM_017890.5(VPS13B):c.4180T>C (p.Leu1394=)
|
rs1246500568
|
0.00001
|
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)
|
rs559590419
|
0.00001
|
NM_017890.5(VPS13B):c.4195G>A (p.Gly1399Ser)
|
rs776321717
|
0.00001
|
NM_017890.5(VPS13B):c.4218C>T (p.Asp1406=)
|
rs1227316936
|
0.00001
|
NM_017890.5(VPS13B):c.4232G>A (p.Arg1411His)
|
rs1821581494
|
0.00001
|
NM_017890.5(VPS13B):c.4233C>T (p.Arg1411=)
|
rs949322913
|
0.00001
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)
|
rs145741622
|
0.00001
|
NM_017890.5(VPS13B):c.4281C>T (p.Cys1427=)
|
rs1563767252
|
0.00001
|
NM_152564.5(VPS13B):c.*1037C>A
|
rs1246944981
|
0.00001
|
NM_152564.5(VPS13B):c.*1239C>T
|
rs1817725052
|
0.00001
|
NM_152564.5(VPS13B):c.*438C>T
|
rs1412435648
|
0.00001
|
NM_152564.5(VPS13B):c.*665T>C
|
rs1326591170
|
0.00001
|
NM_152564.5(VPS13B):c.10023A>G (p.Pro3341=)
|
rs767423737
|
0.00001
|
NM_152564.5(VPS13B):c.10042A>G (p.Ile3348Val)
|
rs777046028
|
0.00001
|
NM_152564.5(VPS13B):c.10047A>G (p.Leu3349=)
|
rs1816115503
|
0.00001
|
NM_152564.5(VPS13B):c.10061+1G>A
|
rs1200459145
|
0.00001
|
NM_152564.5(VPS13B):c.10062-6C>T
|
rs745353782
|
0.00001
|
NM_152564.5(VPS13B):c.10064C>T (p.Ala3355Val)
|
rs199931583
|
0.00001
|
NM_152564.5(VPS13B):c.10076T>C (p.Ile3359Thr)
|
rs1036301212
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.10100C>A (p.Thr3367Asn)
|
rs759636784
|
0.00001
|
NM_152564.5(VPS13B):c.10103A>G (p.Gln3368Arg)
|
rs377348581
|
0.00001
|
NM_152564.5(VPS13B):c.10115C>T (p.Ala3372Val)
|
rs753591072
|
0.00001
|
NM_152564.5(VPS13B):c.10116A>G (p.Ala3372=)
|
rs371573594
|
0.00001
|
NM_152564.5(VPS13B):c.10119G>A (p.Val3373=)
|
rs1159607522
|
0.00001
|
NM_152564.5(VPS13B):c.10132A>T (p.Thr3378Ser)
|
rs770379709
|
0.00001
|
NM_152564.5(VPS13B):c.10152T>G (p.Ala3384=)
|
rs374129601
|
0.00001
|
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu)
|
rs368041601
|
0.00001
|
NM_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu)
|
rs779782582
|
0.00001
|
NM_152564.5(VPS13B):c.10221G>C (p.Gly3407=)
|
rs746473073
|
0.00001
|
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser)
|
rs79324124
|
0.00001
|
NM_152564.5(VPS13B):c.10238C>T (p.Ala3413Val)
|
rs930006569
|
0.00001
|
NM_152564.5(VPS13B):c.10255T>C (p.Cys3419Arg)
|
rs188030143
|
0.00001
|
NM_152564.5(VPS13B):c.10324G>A (p.Ala3442Thr)
|
rs1816408668
|
0.00001
|
NM_152564.5(VPS13B):c.10359C>A (p.Pro3453=)
|
rs1444426292
|
0.00001
|
NM_152564.5(VPS13B):c.10382G>C (p.Ser3461Thr)
|
rs1816412271
|
0.00001
|
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe)
|
rs761972356
|
0.00001
|
NM_152564.5(VPS13B):c.10410A>G (p.Glu3470=)
|
rs751254612
|
0.00001
|
NM_152564.5(VPS13B):c.10442G>T (p.Cys3481Phe)
|
rs1563509900
|
0.00001
|
NM_152564.5(VPS13B):c.10444A>G (p.Ile3482Val)
|
rs1196019519
|
0.00001
|
NM_152564.5(VPS13B):c.10468A>G (p.Ile3490Val)
|
rs398124325
|
0.00001
|
NM_152564.5(VPS13B):c.10470C>A (p.Ile3490=)
|
rs372875604
|
0.00001
|
NM_152564.5(VPS13B):c.10473C>G (p.Leu3491=)
|
rs1302374134
|
0.00001
|
NM_152564.5(VPS13B):c.10506A>G (p.Lys3502=)
|
rs1373791263
|
0.00001
|
NM_152564.5(VPS13B):c.10508C>A (p.Pro3503His)
|
rs773013716
|
0.00001
|
NM_152564.5(VPS13B):c.10513C>T (p.Arg3505Trp)
|
rs763017122
|
0.00001
|
NM_152564.5(VPS13B):c.10539A>G (p.Val3513=)
|
rs753290639
|
0.00001
|
NM_152564.5(VPS13B):c.10540T>C (p.Tyr3514His)
|
rs1440017130
|
0.00001
|
NM_152564.5(VPS13B):c.10545C>T (p.Tyr3515=)
|
rs758842658
|
0.00001
|
NM_152564.5(VPS13B):c.10548C>A (p.Ile3516=)
|
rs780558517
|
0.00001
|
NM_152564.5(VPS13B):c.1066A>G (p.Ile356Val)
|
rs1020906206
|
0.00001
|
NM_152564.5(VPS13B):c.10681C>T (p.Arg3561Trp)
|
rs200232124
|
0.00001
|
NM_152564.5(VPS13B):c.10682G>A (p.Arg3561Gln)
|
rs549125520
|
0.00001
|
NM_152564.5(VPS13B):c.10699C>A (p.Pro3567Thr)
|
rs759972908
|
0.00001
|
NM_152564.5(VPS13B):c.10703T>C (p.Val3568Ala)
|
rs376964635
|
0.00001
|
NM_152564.5(VPS13B):c.10710G>T (p.Leu3570Phe)
|
rs753058180
|
0.00001
|
NM_152564.5(VPS13B):c.10719C>T (p.Ser3573=)
|
rs888814815
|
0.00001
|
NM_152564.5(VPS13B):c.10722C>G (p.Ile3574Met)
|
rs1303747895
|
0.00001
|
NM_152564.5(VPS13B):c.10764T>C (p.Pro3588=)
|
rs1477900241
|
0.00001
|
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=)
|
rs547516730
|
0.00001
|
NM_152564.5(VPS13B):c.1077T>C (p.Tyr359=)
|
rs541332942
|
0.00001
|
NM_152564.5(VPS13B):c.10795A>G (p.Ile3599Val)
|
rs1225418115
|
0.00001
|
NM_152564.5(VPS13B):c.10797C>T (p.Ile3599=)
|
rs769445328
|
0.00001
|
NM_152564.5(VPS13B):c.10825G>A (p.Ala3609Thr)
|
rs769606496
|
0.00001
|
NM_152564.5(VPS13B):c.10828C>T (p.Leu3610=)
|
rs1265301398
|
0.00001
|
NM_152564.5(VPS13B):c.10852G>A (p.Ala3618Thr)
|
rs373605057
|
0.00001
|
NM_152564.5(VPS13B):c.10857T>C (p.Leu3619=)
|
rs183080498
|
0.00001
|
NM_152564.5(VPS13B):c.10867+10C>T
|
rs1239193804
|
0.00001
|
NM_152564.5(VPS13B):c.10867+1G>A
|
rs780902262
|
0.00001
|
NM_152564.5(VPS13B):c.10867+7A>G
|
rs1378858300
|
0.00001
|
NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys)
|
rs116951775
|
0.00001
|
NM_152564.5(VPS13B):c.10881G>A (p.Gly3627=)
|
rs770336524
|
0.00001
|
NM_152564.5(VPS13B):c.10896T>C (p.Leu3632=)
|
rs774248863
|
0.00001
|
NM_152564.5(VPS13B):c.10924A>G (p.Ile3642Val)
|
rs148582416
|
0.00001
|
NM_152564.5(VPS13B):c.10926C>A (p.Ile3642=)
|
rs753373848
|
0.00001
|
NM_152564.5(VPS13B):c.10927G>A (p.Gly3643Arg)
|
rs778657622
|
0.00001
|
NM_152564.5(VPS13B):c.10933G>A (p.Gly3645Arg)
|
rs61754108
|
0.00001
|
NM_152564.5(VPS13B):c.10941C>T (p.Ala3647=)
|
rs781760595
|
0.00001
|
NM_152564.5(VPS13B):c.10950C>T (p.Phe3650=)
|
rs773394643
|
0.00001
|
NM_152564.5(VPS13B):c.10976G>A (p.Arg3659Gln)
|
rs370507425
|
0.00001
|
NM_152564.5(VPS13B):c.10978G>A (p.Gly3660Ser)
|
rs373947421
|
0.00001
|
NM_152564.5(VPS13B):c.1097T>C (p.Phe366Ser)
|
rs543010361
|
0.00001
|
NM_152564.5(VPS13B):c.11002G>A (p.Val3668Ile)
|
rs746534351
|
0.00001
|
NM_152564.5(VPS13B):c.11022G>A (p.Ser3674=)
|
rs375676564
|
0.00001
|
NM_152564.5(VPS13B):c.11030A>C (p.Lys3677Thr)
|
rs772287232
|
0.00001
|
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=)
|
rs199748413
|
0.00001
|
NM_152564.5(VPS13B):c.11044+20G>C
|
rs1444976203
|
0.00001
|
NM_152564.5(VPS13B):c.11044+6G>A
|
rs369477759
|
0.00001
|
NM_152564.5(VPS13B):c.11045-10G>T
|
rs769628992
|
0.00001
|
NM_152564.5(VPS13B):c.11045-6C>T
|
rs1250558576
|
0.00001
|
NM_152564.5(VPS13B):c.11046T>A (p.Gly3682=)
|
rs1178600682
|
0.00001
|
NM_152564.5(VPS13B):c.11059A>G (p.Ile3687Val)
|
rs1045389239
|
0.00001
|
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=)
|
rs185477101
|
0.00001
|
NM_152564.5(VPS13B):c.1107C>T (p.Asn369=)
|
rs777015545
|
0.00001
|
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln)
|
rs757726642
|
0.00001
|
NM_152564.5(VPS13B):c.1108G>C (p.Asp370His)
|
rs748531719
|
0.00001
|
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs)
|
rs386834059
|
0.00001
|
NM_152564.5(VPS13B):c.11131C>T (p.Gln3711Ter)
|
rs1451352816
|
0.00001
|
NM_152564.5(VPS13B):c.11143C>T (p.Arg3715Trp)
|
rs772640414
|
0.00001
|
NM_152564.5(VPS13B):c.11157C>T (p.Pro3719=)
|
rs774143549
|
0.00001
|
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln)
|
rs913075497
|
0.00001
|
NM_152564.5(VPS13B):c.1118C>T (p.Ser373Leu)
|
rs773391550
|
0.00001
|
NM_152564.5(VPS13B):c.11196G>T (p.Arg3732=)
|
rs1284354271
|
0.00001
|
NM_152564.5(VPS13B):c.11197C>A (p.Leu3733Met)
|
rs1318142770
|
0.00001
|
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=)
|
rs766658666
|
0.00001
|
NM_152564.5(VPS13B):c.11205C>G (p.Ile3735Met)
|
rs1359351082
|
0.00001
|
NM_152564.5(VPS13B):c.11215+14G>C
|
rs777843630
|
0.00001
|
NM_152564.5(VPS13B):c.11215+8G>T
|
rs1285906381
|
0.00001
|
NM_152564.5(VPS13B):c.11216-1G>C
|
rs1057517441
|
0.00001
|
NM_152564.5(VPS13B):c.11223T>G (p.Ile3741Met)
|
rs267601674
|
0.00001
|
NM_152564.5(VPS13B):c.1127A>G (p.His376Arg)
|
rs1209759817
|
0.00001
|
NM_152564.5(VPS13B):c.11305G>A (p.Val3769Ile)
|
rs1375551293
|
0.00001
|
NM_152564.5(VPS13B):c.11317G>A (p.Val3773Met)
|
rs145970185
|
0.00001
|
NM_152564.5(VPS13B):c.11355C>T (p.Ile3785=)
|
rs865965849
|
0.00001
|
NM_152564.5(VPS13B):c.11364del (p.Ala3789fs)
|
rs1485428182
|
0.00001
|
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=)
|
rs1847925535
|
0.00001
|
NM_152564.5(VPS13B):c.11381A>G (p.Gln3794Arg)
|
rs1172665875
|
0.00001
|
NM_152564.5(VPS13B):c.11393-9T>C
|
rs1370103041
|
0.00001
|
NM_152564.5(VPS13B):c.11398T>C (p.Leu3800=)
|
rs1817365435
|
0.00001
|
NM_152564.5(VPS13B):c.1141C>T (p.Gln381Ter)
|
rs774376104
|
0.00001
|
NM_152564.5(VPS13B):c.11435G>A (p.Arg3812His)
|
rs529932207
|
0.00001
|
NM_152564.5(VPS13B):c.11442G>A (p.Gln3814=)
|
rs1249346975
|
0.00001
|
NM_152564.5(VPS13B):c.11457T>C (p.His3819=)
|
rs763130797
|
0.00001
|
NM_152564.5(VPS13B):c.11471C>T (p.Pro3824Leu)
|
rs75996587
|
0.00001
|
NM_152564.5(VPS13B):c.11489A>G (p.Tyr3830Cys)
|
rs1354835040
|
0.00001
|
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile)
|
rs752506829
|
0.00001
|
NM_152564.5(VPS13B):c.11493C>T (p.Val3831=)
|
rs1406602437
|
0.00001
|
NM_152564.5(VPS13B):c.11495+7_11495+8del
|
rs1588810879
|
0.00001
|
NM_152564.5(VPS13B):c.114C>T (p.Ser38=)
|
rs768496696
|
0.00001
|
NM_152564.5(VPS13B):c.11501del (p.Met3834fs)
|
rs1394681818
|
0.00001
|
NM_152564.5(VPS13B):c.11518A>C (p.Arg3840=)
|
rs1343441630
|
0.00001
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=)
|
rs572479795
|
0.00001
|
NM_152564.5(VPS13B):c.11545G>A (p.Val3849Met)
|
rs781773703
|
0.00001
|
NM_152564.5(VPS13B):c.11577T>C (p.His3859=)
|
rs771158927
|
0.00001
|
NM_152564.5(VPS13B):c.11622T>C (p.Ser3874=)
|
rs1429011710
|
0.00001
|
NM_152564.5(VPS13B):c.11623G>A (p.Val3875Ile)
|
rs765012695
|
0.00001
|
NM_152564.5(VPS13B):c.11649C>G (p.Ala3883=)
|
rs781535467
|
0.00001
|
NM_152564.5(VPS13B):c.11653C>T (p.Pro3885Ser)
|
rs1272962312
|
0.00001
|
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=)
|
rs368092348
|
0.00001
|
NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=)
|
rs749637946
|
0.00001
|
NM_152564.5(VPS13B):c.11690A>G (p.Gln3897Arg)
|
rs745928856
|
0.00001
|
NM_152564.5(VPS13B):c.11706A>G (p.Thr3902=)
|
rs532340798
|
0.00001
|
NM_152564.5(VPS13B):c.11718G>A (p.Lys3906=)
|
rs764961174
|
0.00001
|
NM_152564.5(VPS13B):c.11732C>T (p.Ala3911Val)
|
rs978197543
|
0.00001
|
NM_152564.5(VPS13B):c.11745+4C>T
|
rs751045565
|
0.00001
|
NM_152564.5(VPS13B):c.11746-11T>C
|
rs947865858
|
0.00001
|
NM_152564.5(VPS13B):c.11746-1G>A
|
rs372327659
|
0.00001
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
NM_152564.5(VPS13B):c.11802C>T (p.Tyr3934=)
|
rs1302197053
|
0.00001
|
NM_152564.5(VPS13B):c.11811G>A (p.Lys3937=)
|
rs1195954184
|
0.00001
|
NM_152564.5(VPS13B):c.11874A>G (p.Ala3958=)
|
rs1400113189
|
0.00001
|
NM_152564.5(VPS13B):c.11904C>T (p.Tyr3968=)
|
rs1817662607
|
0.00001
|
NM_152564.5(VPS13B):c.11906A>C (p.His3969Pro)
|
rs902783600
|
0.00001
|
NM_152564.5(VPS13B):c.11949A>G (p.Lys3983=)
|
rs745447477
|
0.00001
|
NM_152564.5(VPS13B):c.11993G>A (p.Ter3998=)
|
rs773765592
|
0.00001
|
NM_152564.5(VPS13B):c.1206+6T>A
|
rs778709502
|
0.00001
|
NM_152564.5(VPS13B):c.1206A>G (p.Lys402=)
|
rs1847928125
|
0.00001
|
NM_152564.5(VPS13B):c.1207-10T>C
|
rs1293563176
|
0.00001
|
NM_152564.5(VPS13B):c.1221A>C (p.Gln407His)
|
rs1269344604
|
0.00001
|
NM_152564.5(VPS13B):c.1302+14A>G
|
rs750969500
|
0.00001
|
NM_152564.5(VPS13B):c.1302+2dup
|
rs766708621
|
0.00001
|
NM_152564.5(VPS13B):c.1303-15C>T
|
rs768921663
|
0.00001
|
NM_152564.5(VPS13B):c.1344G>T (p.Gly448=)
|
rs1395837319
|
0.00001
|
NM_152564.5(VPS13B):c.1382T>C (p.Met461Thr)
|
rs754324907
|
0.00001
|
NM_152564.5(VPS13B):c.1391A>C (p.Lys464Thr)
|
rs1431957435
|
0.00001
|
NM_152564.5(VPS13B):c.1425+14C>T
|
rs1336315374
|
0.00001
|
NM_152564.5(VPS13B):c.1429G>T (p.Ala477Ser)
|
rs1272904056
|
0.00001
|
NM_152564.5(VPS13B):c.147+1G>A
|
rs1057517029
|
0.00001
|
NM_152564.5(VPS13B):c.147+3A>G
|
rs772550162
|
0.00001
|
NM_152564.5(VPS13B):c.148-10G>A
|
rs779842255
|
0.00001
|
NM_152564.5(VPS13B):c.149A>C (p.Glu50Ala)
|
rs1432079296
|
0.00001
|
NM_152564.5(VPS13B):c.1553C>T (p.Thr518Ile)
|
rs751932917
|
0.00001
|
NM_152564.5(VPS13B):c.1563+10T>C
|
rs777964709
|
0.00001
|
NM_152564.5(VPS13B):c.1563+7G>C
|
rs1185654925
|
0.00001
|
NM_152564.5(VPS13B):c.1564-3C>T
|
rs753911390
|
0.00001
|
NM_152564.5(VPS13B):c.1567A>G (p.Thr523Ala)
|
rs146659631
|
0.00001
|
NM_152564.5(VPS13B):c.1586G>A (p.Gly529Glu)
|
rs750429731
|
0.00001
|
NM_152564.5(VPS13B):c.1593A>G (p.Gln531=)
|
rs1435002712
|
0.00001
|
NM_152564.5(VPS13B):c.1602G>T (p.Gly534=)
|
rs1266552493
|
0.00001
|
NM_152564.5(VPS13B):c.1603G>A (p.Ala535Thr)
|
rs1350243430
|
0.00001
|
NM_152564.5(VPS13B):c.1612A>G (p.Met538Val)
|
rs1478296228
|
0.00001
|
NM_152564.5(VPS13B):c.1615G>A (p.Asp539Asn)
|
rs774992590
|
0.00001
|
NM_152564.5(VPS13B):c.1623G>C (p.Leu541=)
|
rs1193051483
|
0.00001
|
NM_152564.5(VPS13B):c.1629A>G (p.Thr543=)
|
rs760975110
|
0.00001
|
NM_152564.5(VPS13B):c.162A>G (p.Pro54=)
|
rs747961838
|
0.00001
|
NM_152564.5(VPS13B):c.1642A>G (p.Ser548Gly)
|
rs1372588907
|
0.00001
|
NM_152564.5(VPS13B):c.1646G>A (p.Gly549Asp)
|
rs886062536
|
0.00001
|
NM_152564.5(VPS13B):c.1668A>T (p.Gln556His)
|
rs756072319
|
0.00001
|
NM_152564.5(VPS13B):c.1696T>C (p.Leu566=)
|
rs767273023
|
0.00001
|
NM_152564.5(VPS13B):c.1753C>T (p.Arg585Cys)
|
rs769956475
|
0.00001
|
NM_152564.5(VPS13B):c.1771G>A (p.Val591Met)
|
rs372593334
|
0.00001
|
NM_152564.5(VPS13B):c.1772T>C (p.Val591Ala)
|
rs753616467
|
0.00001
|
NM_152564.5(VPS13B):c.1779G>A (p.Arg593=)
|
rs1810520439
|
0.00001
|
NM_152564.5(VPS13B):c.1887G>A (p.Val629=)
|
rs138291421
|
0.00001
|
NM_152564.5(VPS13B):c.1907T>G (p.Ile636Ser)
|
rs1209495278
|
0.00001
|
NM_152564.5(VPS13B):c.1921A>G (p.Thr641Ala)
|
rs891182271
|
0.00001
|
NM_152564.5(VPS13B):c.1924A>G (p.Ser642Gly)
|
rs1294611505
|
0.00001
|
NM_152564.5(VPS13B):c.1953A>G (p.Thr651=)
|
rs756544361
|
0.00001
|
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu)
|
rs886062537
|
0.00001
|
NM_152564.5(VPS13B):c.1956T>G (p.Ile652Met)
|
rs904064642
|
0.00001
|
NM_152564.5(VPS13B):c.1960A>G (p.Met654Val)
|
rs1408089043
|
0.00001
|
NM_152564.5(VPS13B):c.19A>T (p.Thr7Ser)
|
rs1413120643
|
0.00001
|
NM_152564.5(VPS13B):c.2013+17G>A
|
rs1161780601
|
0.00001
|
NM_152564.5(VPS13B):c.2014-19G>A
|
rs945362630
|
0.00001
|
NM_152564.5(VPS13B):c.2014-20C>T
|
rs765582455
|
0.00001
|
NM_152564.5(VPS13B):c.2037T>C (p.Thr679=)
|
rs1275629837
|
0.00001
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
NM_152564.5(VPS13B):c.2077A>C (p.Ile693Leu)
|
rs1228929542
|
0.00001
|
NM_152564.5(VPS13B):c.207A>T (p.Val69=)
|
rs772922484
|
0.00001
|
NM_152564.5(VPS13B):c.2109A>C (p.Ser703=)
|
rs1269866492
|
0.00001
|
NM_152564.5(VPS13B):c.2116A>G (p.Met706Val)
|
rs751897986
|
0.00001
|
NM_152564.5(VPS13B):c.2160A>G (p.Gln720=)
|
rs1272445028
|
0.00001
|
NM_152564.5(VPS13B):c.2175G>A (p.Leu725=)
|
rs1211430808
|
0.00001
|
NM_152564.5(VPS13B):c.2180A>G (p.His727Arg)
|
rs1436936380
|
0.00001
|
NM_152564.5(VPS13B):c.2208+14A>G
|
rs745575182
|
0.00001
|
NM_152564.5(VPS13B):c.2208+20T>C
|
rs1396217310
|
0.00001
|
NM_152564.5(VPS13B):c.2209-8T>C
|
rs1426142075
|
0.00001
|
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=)
|
rs146450992
|
0.00001
|
NM_152564.5(VPS13B):c.2333+10A>G
|
rs933132905
|
0.00001
|
NM_152564.5(VPS13B):c.2333+20A>G
|
rs758171682
|
0.00001
|
NM_152564.5(VPS13B):c.2333+5G>A
|
rs369096824
|
0.00001
|
NM_152564.5(VPS13B):c.2334-13T>G
|
rs768924726
|
0.00001
|
NM_152564.5(VPS13B):c.2348A>G (p.Gln783Arg)
|
rs765133430
|
0.00001
|
NM_152564.5(VPS13B):c.234A>G (p.Pro78=)
|
rs372597619
|
0.00001
|
NM_152564.5(VPS13B):c.2434T>C (p.Tyr812His)
|
rs1258984174
|
0.00001
|
NM_152564.5(VPS13B):c.2445G>T (p.Trp815Cys)
|
rs1452649119
|
0.00001
|
NM_152564.5(VPS13B):c.2464A>C (p.Ser822Arg)
|
rs1208376209
|
0.00001
|
NM_152564.5(VPS13B):c.2475A>G (p.Ala825=)
|
rs1334203745
|
0.00001
|
NM_152564.5(VPS13B):c.2516-5A>T
|
rs756282496
|
0.00001
|
NM_152564.5(VPS13B):c.2535C>T (p.Pro845=)
|
rs1241992024
|
0.00001
|
NM_152564.5(VPS13B):c.2536C>T (p.Leu846=)
|
rs934545731
|
0.00001
|
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr)
|
rs774142530
|
0.00001
|
NM_152564.5(VPS13B):c.2552G>A (p.Gly851Asp)
|
rs1251819735
|
0.00001
|
NM_152564.5(VPS13B):c.2561A>G (p.Gln854Arg)
|
rs936610679
|
0.00001
|
NM_152564.5(VPS13B):c.2605G>A (p.Ala869Thr)
|
rs371800257
|
0.00001
|
NM_152564.5(VPS13B):c.2618T>C (p.Met873Thr)
|
rs112259211
|
0.00001
|
NM_152564.5(VPS13B):c.2626A>G (p.Ile876Val)
|
rs772082436
|
0.00001
|
NM_152564.5(VPS13B):c.2646C>G (p.Ala882=)
|
rs369124790
|
0.00001
|
NM_152564.5(VPS13B):c.2651-10T>G
|
rs398124330
|
0.00001
|
NM_152564.5(VPS13B):c.2685T>A (p.Leu895=)
|
rs762130581
|
0.00001
|
NM_152564.5(VPS13B):c.2700C>T (p.Asp900=)
|
rs765522219
|
0.00001
|
NM_152564.5(VPS13B):c.2733T>C (p.Asn911=)
|
rs1818828803
|
0.00001
|
NM_152564.5(VPS13B):c.2751G>A (p.Glu917=)
|
rs192509060
|
0.00001
|
NM_152564.5(VPS13B):c.2764C>T (p.Pro922Ser)
|
rs371120818
|
0.00001
|
NM_152564.5(VPS13B):c.2765C>T (p.Pro922Leu)
|
rs1378379268
|
0.00001
|
NM_152564.5(VPS13B):c.2785A>G (p.Ile929Val)
|
rs1222718209
|
0.00001
|
NM_152564.5(VPS13B):c.2788C>A (p.Gln930Lys)
|
rs372949456
|
0.00001
|
NM_152564.5(VPS13B):c.2797C>G (p.Gln933Glu)
|
rs773412105
|
0.00001
|
NM_152564.5(VPS13B):c.2817C>A (p.His939Gln)
|
rs773717018
|
0.00001
|
NM_152564.5(VPS13B):c.2824+2T>C
|
rs141703746
|
0.00001
|
NM_152564.5(VPS13B):c.2843G>C (p.Ser948Thr)
|
rs749988222
|
0.00001
|
NM_152564.5(VPS13B):c.2853A>C (p.Gly951=)
|
rs374898875
|
0.00001
|
NM_152564.5(VPS13B):c.2879T>C (p.Leu960Ser)
|
rs775378782
|
0.00001
|
NM_152564.5(VPS13B):c.2880A>G (p.Leu960=)
|
rs760792770
|
0.00001
|
NM_152564.5(VPS13B):c.2881T>C (p.Tyr961His)
|
rs1563700103
|
0.00001
|
NM_152564.5(VPS13B):c.2886G>A (p.Thr962=)
|
rs753837683
|
0.00001
|
NM_152564.5(VPS13B):c.288A>T (p.Ile96=)
|
rs1842840884
|
0.00001
|
NM_152564.5(VPS13B):c.2897A>G (p.Tyr966Cys)
|
rs779809192
|
0.00001
|
NM_152564.5(VPS13B):c.2906A>G (p.Gln969Arg)
|
rs398124332
|
0.00001
|
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)
|
rs120074152
|
0.00001
|
NM_152564.5(VPS13B):c.2912G>A (p.Arg971Gln)
|
rs778413172
|
0.00001
|
NM_152564.5(VPS13B):c.2921G>C (p.Arg974Thr)
|
rs763519651
|
0.00001
|
NM_152564.5(VPS13B):c.2924A>G (p.His975Arg)
|
rs376049764
|
0.00001
|
NM_152564.5(VPS13B):c.2934G>A (p.Gln978=)
|
rs772161131
|
0.00001
|
NM_152564.5(VPS13B):c.2935-12G>T
|
rs1394216324
|
0.00001
|
NM_152564.5(VPS13B):c.2956C>T (p.Leu986Phe)
|
rs1262733224
|
0.00001
|
NM_152564.5(VPS13B):c.297C>T (p.Asp99=)
|
rs1295312029
|
0.00001
|
NM_152564.5(VPS13B):c.2995T>C (p.Ser999Pro)
|
rs1429325415
|
0.00001
|
NM_152564.5(VPS13B):c.3000T>G (p.Ile1000Met)
|
rs1465563233
|
0.00001
|
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter)
|
rs567092790
|
0.00001
|
NM_152564.5(VPS13B):c.3030A>G (p.Ser1010=)
|
rs749186173
|
0.00001
|
NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His)
|
rs771021187
|
0.00001
|
NM_152564.5(VPS13B):c.3039C>G (p.Ala1013=)
|
rs1369894896
|
0.00001
|
NM_152564.5(VPS13B):c.3051C>T (p.Ala1017=)
|
rs1296198571
|
0.00001
|
NM_152564.5(VPS13B):c.3082+2T>C
|
rs1188811827
|
0.00001
|
NM_152564.5(VPS13B):c.3083-2A>C
|
rs1456528242
|
0.00001
|
NM_152564.5(VPS13B):c.3084A>G (p.Glu1028=)
|
rs150505597
|
0.00001
|
NM_152564.5(VPS13B):c.3113C>T (p.Ala1038Val)
|
rs1169113054
|
0.00001
|
NM_152564.5(VPS13B):c.318T>C (p.Asn106=)
|
rs1846415935
|
0.00001
|
NM_152564.5(VPS13B):c.3210+11A>T
|
rs191511518
|
0.00001
|
NM_152564.5(VPS13B):c.3211-16T>A
|
rs1439444815
|
0.00001
|
NM_152564.5(VPS13B):c.3234G>A (p.Val1078=)
|
rs1339519603
|
0.00001
|
NM_152564.5(VPS13B):c.3255G>A (p.Leu1085=)
|
rs371674854
|
0.00001
|
NM_152564.5(VPS13B):c.3270A>G (p.Thr1090=)
|
rs1307720386
|
0.00001
|
NM_152564.5(VPS13B):c.3271A>G (p.Ile1091Val)
|
rs780930460
|
0.00001
|
NM_152564.5(VPS13B):c.328C>T (p.Arg110Cys)
|
rs368290618
|
0.00001
|
NM_152564.5(VPS13B):c.3305G>A (p.Ser1102Asn)
|
rs778498211
|
0.00001
|
NM_152564.5(VPS13B):c.3310T>A (p.Tyr1104Asn)
|
rs1251521388
|
0.00001
|
NM_152564.5(VPS13B):c.3333G>A (p.Pro1111=)
|
rs367791771
|
0.00001
|
NM_152564.5(VPS13B):c.3335G>A (p.Gly1112Glu)
|
rs1463093451
|
0.00001
|
NM_152564.5(VPS13B):c.3381G>A (p.Gly1127=)
|
rs753370533
|
0.00001
|
NM_152564.5(VPS13B):c.3391A>G (p.Met1131Val)
|
rs769263049
|
0.00001
|
NM_152564.5(VPS13B):c.339T>G (p.Ala113=)
|
rs200619753
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.3441A>G (p.Glu1147=)
|
rs767433370
|
0.00001
|
NM_152564.5(VPS13B):c.3453T>C (p.Ala1151=)
|
rs1014978049
|
0.00001
|
NM_152564.5(VPS13B):c.3464C>T (p.Thr1155Met)
|
rs758040462
|
0.00001
|
NM_152564.5(VPS13B):c.3465G>A (p.Thr1155=)
|
rs779726673
|
0.00001
|
NM_152564.5(VPS13B):c.3470G>T (p.Ser1157Ile)
|
rs748600714
|
0.00001
|
NM_152564.5(VPS13B):c.3494C>A (p.Thr1165Asn)
|
rs777953652
|
0.00001
|
NM_152564.5(VPS13B):c.3503G>A (p.Gly1168Glu)
|
rs1819169224
|
0.00001
|
NM_152564.5(VPS13B):c.3522C>T (p.Cys1174=)
|
rs772078846
|
0.00001
|
NM_152564.5(VPS13B):c.3523C>T (p.Leu1175=)
|
rs775549294
|
0.00001
|
NM_152564.5(VPS13B):c.3553C>T (p.Leu1185=)
|
rs761707088
|
0.00001
|
NM_152564.5(VPS13B):c.3570A>G (p.Gln1190=)
|
rs1489420306
|
0.00001
|
NM_152564.5(VPS13B):c.3583A>G (p.Thr1195Ala)
|
rs1027684992
|
0.00001
|
NM_152564.5(VPS13B):c.3594T>C (p.Asp1198=)
|
rs779156454
|
0.00001
|
NM_152564.5(VPS13B):c.359T>A (p.Ile120Asn)
|
rs763259028
|
0.00001
|
NM_152564.5(VPS13B):c.3615C>T (p.Val1205=)
|
rs761670389
|
0.00001
|
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln)
|
rs1279523650
|
0.00001
|
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His)
|
rs757707584
|
0.00001
|
NM_152564.5(VPS13B):c.3667G>A (p.Val1223Ile)
|
rs1820042425
|
0.00001
|
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=)
|
rs751715193
|
0.00001
|
NM_152564.5(VPS13B):c.3706G>A (p.Val1236Ile)
|
rs769743278
|
0.00001
|
NM_152564.5(VPS13B):c.3755C>T (p.Ser1252Phe)
|
rs763456297
|
0.00001
|
NM_152564.5(VPS13B):c.3762G>C (p.Glu1254Asp)
|
rs751944327
|
0.00001
|
NM_152564.5(VPS13B):c.3769G>C (p.Ala1257Pro)
|
rs1437011084
|
0.00001
|
NM_152564.5(VPS13B):c.378G>A (p.Gln126=)
|
rs1281161057
|
0.00001
|
NM_152564.5(VPS13B):c.3805A>G (p.Ile1269Val)
|
rs778799166
|
0.00001
|
NM_152564.5(VPS13B):c.3807A>C (p.Ile1269=)
|
rs745698032
|
0.00001
|
NM_152564.5(VPS13B):c.3827C>T (p.Thr1276Ile)
|
rs567003932
|
0.00001
|
NM_152564.5(VPS13B):c.3836G>A (p.Cys1279Tyr)
|
rs747109984
|
0.00001
|
NM_152564.5(VPS13B):c.3839G>A (p.Ser1280Asn)
|
rs1441125749
|
0.00001
|
NM_152564.5(VPS13B):c.3853A>G (p.Ile1285Val)
|
rs759888573
|
0.00001
|
NM_152564.5(VPS13B):c.3870+5G>A
|
rs1183330877
|
0.00001
|
NM_152564.5(VPS13B):c.3889G>A (p.Gly1297Ser)
|
rs762049347
|
0.00001
|
NM_152564.5(VPS13B):c.3901C>T (p.Pro1301Ser)
|
rs1326406012
|
0.00001
|
NM_152564.5(VPS13B):c.3909A>T (p.Ser1303=)
|
rs779666289
|
0.00001
|
NM_152564.5(VPS13B):c.3948A>G (p.Gly1316=)
|
rs975356010
|
0.00001
|
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter)
|
rs1156390688
|
0.00001
|
NM_152564.5(VPS13B):c.4020A>G (p.Pro1340=)
|
rs1821247586
|
0.00001
|
NM_152564.5(VPS13B):c.4038C>G (p.Gly1346=)
|
rs1821248178
|
0.00001
|
NM_152564.5(VPS13B):c.4042+7G>T
|
rs772651692
|
0.00001
|
NM_152564.5(VPS13B):c.4051A>T (p.Met1351Leu)
|
rs1821315813
|
0.00001
|
NM_152564.5(VPS13B):c.4058G>A (p.Ser1353Asn)
|
rs1160697460
|
0.00001
|
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser)
|
rs757950339
|
0.00001
|
NM_152564.5(VPS13B):c.4101A>T (p.Val1367=)
|
rs1159683768
|
0.00001
|
NM_152564.5(VPS13B):c.4132T>G (p.Phe1378Val)
|
rs773134117
|
0.00001
|
NM_152564.5(VPS13B):c.4140T>A (p.Ile1380=)
|
rs763157781
|
0.00001
|
NM_152564.5(VPS13B):c.416A>T (p.Tyr139Phe)
|
rs1226944454
|
0.00001
|
NM_152564.5(VPS13B):c.4224+684T>G
|
rs779176548
|
0.00001
|
NM_152564.5(VPS13B):c.4224+6A>G
|
rs1173901763
|
0.00001
|
NM_152564.5(VPS13B):c.4224+707C>G
|
rs1821585422
|
0.00001
|
NM_152564.5(VPS13B):c.4231A>G (p.Thr1411Ala)
|
rs1462190245
|
0.00001
|
NM_152564.5(VPS13B):c.4260G>A (p.Gln1420=)
|
rs376118865
|
0.00001
|
NM_152564.5(VPS13B):c.4266A>G (p.Gly1422=)
|
rs1317212158
|
0.00001
|
NM_152564.5(VPS13B):c.4270C>T (p.Leu1424Phe)
|
rs1821771268
|
0.00001
|
NM_152564.5(VPS13B):c.4286C>A (p.Thr1429Lys)
|
rs1232811849
|
0.00001
|
NM_152564.5(VPS13B):c.4308C>T (p.Val1436=)
|
rs762315814
|
0.00001
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
NM_152564.5(VPS13B):c.4349A>G (p.His1450Arg)
|
rs773937982
|
0.00001
|
NM_152564.5(VPS13B):c.4357T>C (p.Ser1453Pro)
|
rs771420728
|
0.00001
|
NM_152564.5(VPS13B):c.4379C>T (p.Ser1460Phe)
|
rs763285164
|
0.00001
|
NM_152564.5(VPS13B):c.4386T>C (p.His1462=)
|
rs1821775372
|
0.00001
|
NM_152564.5(VPS13B):c.4416A>T (p.Gln1472His)
|
rs1821776501
|
0.00001
|
NM_152564.5(VPS13B):c.4424A>G (p.Asp1475Gly)
|
rs751663330
|
0.00001
|
NM_152564.5(VPS13B):c.4451A>T (p.Asn1484Ile)
|
rs1457753544
|
0.00001
|
NM_152564.5(VPS13B):c.4456A>G (p.Ile1486Val)
|
rs370519991
|
0.00001
|
NM_152564.5(VPS13B):c.4517G>A (p.Gly1506Asp)
|
rs140797231
|
0.00001
|
NM_152564.5(VPS13B):c.4518T>C (p.Gly1506=)
|
rs1821779613
|
0.00001
|
NM_152564.5(VPS13B):c.4521G>A (p.Gln1507=)
|
rs779519268
|
0.00001
|
NM_152564.5(VPS13B):c.4545A>T (p.Thr1515=)
|
rs763518845
|
0.00001
|
NM_152564.5(VPS13B):c.4582G>C (p.Val1528Leu)
|
rs757253779
|
0.00001
|
NM_152564.5(VPS13B):c.4589G>A (p.Arg1530Lys)
|
rs1234827991
|
0.00001
|
NM_152564.5(VPS13B):c.4633+14A>G
|
rs763556763
|
0.00001
|
NM_152564.5(VPS13B):c.4633+17T>C
|
rs941869950
|
0.00001
|
NM_152564.5(VPS13B):c.4645G>A (p.Ala1549Thr)
|
rs750053756
|
0.00001
|
NM_152564.5(VPS13B):c.4653A>G (p.Glu1551=)
|
rs368552225
|
0.00001
|
NM_152564.5(VPS13B):c.4668G>A (p.Leu1556=)
|
rs1322804531
|
0.00001
|
NM_152564.5(VPS13B):c.4673T>A (p.Ile1558Asn)
|
rs138417551
|
0.00001
|
NM_152564.5(VPS13B):c.4735G>T (p.Asp1579Tyr)
|
rs142708735
|
0.00001
|
NM_152564.5(VPS13B):c.4745+1G>A
|
rs1469729130
|
0.00001
|
NM_152564.5(VPS13B):c.4746-1G>C
|
rs768342041
|
0.00001
|
NM_152564.5(VPS13B):c.4763G>T (p.Gly1588Val)
|
rs760057249
|
0.00001
|
NM_152564.5(VPS13B):c.4777C>A (p.Pro1593Thr)
|
rs954564707
|
0.00001
|
NM_152564.5(VPS13B):c.4792G>A (p.Glu1598Lys)
|
rs1169963451
|
0.00001
|
NM_152564.5(VPS13B):c.4812A>G (p.Ile1604Met)
|
rs1824574633
|
0.00001
|
NM_152564.5(VPS13B):c.4833T>C (p.Ile1611=)
|
rs1380489766
|
0.00001
|
NM_152564.5(VPS13B):c.4841C>A (p.Ala1614Glu)
|
rs1002672196
|
0.00001
|
NM_152564.5(VPS13B):c.4870G>C (p.Glu1624Gln)
|
rs1257281144
|
0.00001
|
NM_152564.5(VPS13B):c.4888G>T (p.Val1630Leu)
|
rs1824580005
|
0.00001
|
NM_152564.5(VPS13B):c.4889T>C (p.Val1630Ala)
|
rs769608908
|
0.00001
|
NM_152564.5(VPS13B):c.4902T>C (p.Thr1634=)
|
rs1420456509
|
0.00001
|
NM_152564.5(VPS13B):c.4932G>A (p.Glu1644=)
|
rs775791528
|
0.00001
|
NM_152564.5(VPS13B):c.4949+2T>C
|
rs761273297
|
0.00001
|
NM_152564.5(VPS13B):c.4950-10dup
|
rs761293145
|
0.00001
|
NM_152564.5(VPS13B):c.498T>G (p.Asp166Glu)
|
rs776596431
|
0.00001
|
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile)
|
rs770669224
|
0.00001
|
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)
|
rs386834093
|
0.00001
|
NM_152564.5(VPS13B):c.5017A>G (p.Thr1673Ala)
|
rs1224933519
|
0.00001
|
NM_152564.5(VPS13B):c.501C>T (p.Ile167=)
|
rs765288271
|
0.00001
|
NM_152564.5(VPS13B):c.5088G>A (p.Val1696=)
|
rs1201956279
|
0.00001
|
NM_152564.5(VPS13B):c.5123A>C (p.Asn1708Thr)
|
rs200878381
|
0.00001
|
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu)
|
rs572732952
|
0.00001
|
NM_152564.5(VPS13B):c.5137C>G (p.Leu1713Val)
|
rs187596259
|
0.00001
|
NM_152564.5(VPS13B):c.513C>T (p.Val171=)
|
rs1846845460
|
0.00001
|
NM_152564.5(VPS13B):c.5156A>G (p.Gln1719Arg)
|
rs772461225
|
0.00001
|
NM_152564.5(VPS13B):c.5157A>G (p.Gln1719=)
|
rs1349630576
|
0.00001
|
NM_152564.5(VPS13B):c.5178A>G (p.Val1726=)
|
rs761688743
|
0.00001
|
NM_152564.5(VPS13B):c.5196G>A (p.Leu1732=)
|
rs750269923
|
0.00001
|
NM_152564.5(VPS13B):c.5206A>G (p.Asn1736Asp)
|
rs976129659
|
0.00001
|
NM_152564.5(VPS13B):c.5220+10A>C
|
rs1221192419
|
0.00001
|
NM_152564.5(VPS13B):c.5220+8T>C
|
rs78899648
|
0.00001
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
NM_152564.5(VPS13B):c.5221-5T>C
|
rs761788793
|
0.00001
|
NM_152564.5(VPS13B):c.5248G>A (p.Asp1750Asn)
|
rs1241714095
|
0.00001
|
NM_152564.5(VPS13B):c.5249A>G (p.Asp1750Gly)
|
rs767031340
|
0.00001
|
NM_152564.5(VPS13B):c.5251A>G (p.Ile1751Val)
|
rs757833793
|
0.00001
|
NM_152564.5(VPS13B):c.5269G>A (p.Ala1757Thr)
|
rs146540735
|
0.00001
|
NM_152564.5(VPS13B):c.5355G>A (p.Gln1785=)
|
rs1172785221
|
0.00001
|
NM_152564.5(VPS13B):c.5385C>T (p.Ala1795=)
|
rs371961319
|
0.00001
|
NM_152564.5(VPS13B):c.5422A>C (p.Asn1808His)
|
rs891967669
|
0.00001
|
NM_152564.5(VPS13B):c.5466A>G (p.Ser1822=)
|
rs770813780
|
0.00001
|
NM_152564.5(VPS13B):c.5469A>G (p.Leu1823=)
|
rs774190999
|
0.00001
|
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile)
|
rs771916272
|
0.00001
|
NM_152564.5(VPS13B):c.5478T>C (p.Tyr1826=)
|
rs1300751748
|
0.00001
|
NM_152564.5(VPS13B):c.5484T>C (p.Cys1828=)
|
rs1177742095
|
0.00001
|
NM_152564.5(VPS13B):c.5511A>G (p.Gln1837=)
|
rs767953687
|
0.00001
|
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)
|
rs1057516633
|
0.00001
|
NM_152564.5(VPS13B):c.5539_5540del (p.Lys1847fs)
|
rs1829394659
|
0.00001
|
NM_152564.5(VPS13B):c.5541G>A (p.Lys1847=)
|
rs771725660
|
0.00001
|
NM_152564.5(VPS13B):c.5556C>T (p.Leu1852=)
|
rs1379522761
|
0.00001
|
NM_152564.5(VPS13B):c.559C>T (p.Arg187Cys)
|
rs367561688
|
0.00001
|
NM_152564.5(VPS13B):c.5613A>C (p.Thr1871=)
|
rs1417569777
|
0.00001
|
NM_152564.5(VPS13B):c.5650T>G (p.Ser1884Ala)
|
rs1829399025
|
0.00001
|
NM_152564.5(VPS13B):c.5658A>G (p.Lys1886=)
|
rs1338773440
|
0.00001
|
NM_152564.5(VPS13B):c.5677C>T (p.Leu1893Phe)
|
rs758410065
|
0.00001
|
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs)
|
rs886041586
|
0.00001
|
NM_152564.5(VPS13B):c.5701A>G (p.Arg1901Gly)
|
rs1176179128
|
0.00001
|
NM_152564.5(VPS13B):c.5720C>T (p.Ala1907Val)
|
rs913328995
|
0.00001
|
NM_152564.5(VPS13B):c.5731A>G (p.Thr1911Ala)
|
rs946197995
|
0.00001
|
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter)
|
rs386834099
|
0.00001
|
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs)
|
rs754016783
|
0.00001
|
NM_152564.5(VPS13B):c.5774A>T (p.Gln1925Leu)
|
rs541081770
|
0.00001
|
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=)
|
rs765209957
|
0.00001
|
NM_152564.5(VPS13B):c.5818C>G (p.Leu1940Val)
|
rs781154165
|
0.00001
|
NM_152564.5(VPS13B):c.5832C>T (p.His1944=)
|
rs372340783
|
0.00001
|
NM_152564.5(VPS13B):c.5840A>G (p.Lys1947Arg)
|
rs777142337
|
0.00001
|
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser)
|
rs770738729
|
0.00001
|
NM_152564.5(VPS13B):c.585T>A (p.Thr195=)
|
rs773972779
|
0.00001
|
NM_152564.5(VPS13B):c.5889C>T (p.Ala1963=)
|
rs761911534
|
0.00001
|
NM_152564.5(VPS13B):c.5902T>C (p.Cys1968Arg)
|
rs1422533086
|
0.00001
|
NM_152564.5(VPS13B):c.5904T>C (p.Cys1968=)
|
rs773156709
|
0.00001
|
NM_152564.5(VPS13B):c.5909-10G>A
|
rs769191915
|
0.00001
|
NM_152564.5(VPS13B):c.5909-8C>T
|
rs369342604
|
0.00001
|
NM_152564.5(VPS13B):c.5950G>A (p.Val1984Ile)
|
rs1303328130
|
0.00001
|
NM_152564.5(VPS13B):c.5964A>G (p.Thr1988=)
|
rs373595694
|
0.00001
|
NM_152564.5(VPS13B):c.5980G>T (p.Asp1994Tyr)
|
rs1563849907
|
0.00001
|
NM_152564.5(VPS13B):c.5982C>T (p.Asp1994=)
|
rs759538241
|
0.00001
|
NM_152564.5(VPS13B):c.5988A>G (p.Lys1996=)
|
rs767548464
|
0.00001
|
NM_152564.5(VPS13B):c.6022A>T (p.Ile2008Phe)
|
rs753483216
|
0.00001
|
NM_152564.5(VPS13B):c.6047-4A>G
|
rs764928258
|
0.00001
|
NM_152564.5(VPS13B):c.6047-6C>T
|
rs1386160206
|
0.00001
|
NM_152564.5(VPS13B):c.6047C>T (p.Ala2016Val)
|
rs199837195
|
0.00001
|
NM_152564.5(VPS13B):c.6058T>C (p.Leu2020=)
|
rs377724023
|
0.00001
|
NM_152564.5(VPS13B):c.6073C>G (p.Pro2025Ala)
|
rs779210102
|
0.00001
|
NM_152564.5(VPS13B):c.6077T>A (p.Leu2026Ter)
|
rs1293372026
|
0.00001
|
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)
|
rs371364257
|
0.00001
|
NM_152564.5(VPS13B):c.6147C>T (p.His2049=)
|
rs770132791
|
0.00001
|
NM_152564.5(VPS13B):c.6178A>G (p.Met2060Val)
|
rs200711677
|
0.00001
|
NM_152564.5(VPS13B):c.6190A>G (p.Met2064Val)
|
rs200554315
|
0.00001
|
NM_152564.5(VPS13B):c.6216C>A (p.Val2072=)
|
rs1315907540
|
0.00001
|
NM_152564.5(VPS13B):c.6221A>C (p.Lys2074Thr)
|
rs1832190048
|
0.00001
|
NM_152564.5(VPS13B):c.6258T>C (p.His2086=)
|
rs1472821351
|
0.00001
|
NM_152564.5(VPS13B):c.6262G>A (p.Asp2088Asn)
|
rs1056435586
|
0.00001
|
NM_152564.5(VPS13B):c.6274A>C (p.Lys2092Gln)
|
rs1422079821
|
0.00001
|
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)
|
rs748404277
|
0.00001
|
NM_152564.5(VPS13B):c.6297G>T (p.Met2099Ile)
|
rs766003681
|
0.00001
|
NM_152564.5(VPS13B):c.6335A>G (p.Gln2112Arg)
|
rs1212416417
|
0.00001
|
NM_152564.5(VPS13B):c.6339T>C (p.Thr2113=)
|
rs747262961
|
0.00001
|
NM_152564.5(VPS13B):c.6358A>G (p.Met2120Val)
|
rs748059850
|
0.00001
|
NM_152564.5(VPS13B):c.6366T>C (p.Thr2122=)
|
rs769787067
|
0.00001
|
NM_152564.5(VPS13B):c.6401C>G (p.Ser2134Cys)
|
rs367838871
|
0.00001
|
NM_152564.5(VPS13B):c.6417T>C (p.Asn2139=)
|
rs1359924343
|
0.00001
|
NM_152564.5(VPS13B):c.6437C>T (p.Ala2146Val)
|
rs967172609
|
0.00001
|
NM_152564.5(VPS13B):c.6453T>G (p.Pro2151=)
|
rs536727985
|
0.00001
|
NM_152564.5(VPS13B):c.6456C>A (p.Gly2152=)
|
rs141845131
|
0.00001
|
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro)
|
rs1366756885
|
0.00001
|
NM_152564.5(VPS13B):c.6487A>G (p.Ile2163Val)
|
rs794727599
|
0.00001
|
NM_152564.5(VPS13B):c.6492C>T (p.Asn2164=)
|
rs773555887
|
0.00001
|
NM_152564.5(VPS13B):c.6527G>A (p.Ser2176Asn)
|
rs767664311
|
0.00001
|
NM_152564.5(VPS13B):c.6531C>T (p.Arg2177=)
|
rs753694921
|
0.00001
|
NM_152564.5(VPS13B):c.6544C>A (p.Pro2182Thr)
|
rs778567402
|
0.00001
|
NM_152564.5(VPS13B):c.6556A>G (p.Thr2186Ala)
|
rs532297738
|
0.00001
|
NM_152564.5(VPS13B):c.6558T>G (p.Thr2186=)
|
rs779788114
|
0.00001
|
NM_152564.5(VPS13B):c.6574A>G (p.Lys2192Glu)
|
rs1357919606
|
0.00001
|
NM_152564.5(VPS13B):c.6588C>T (p.His2196=)
|
rs1460052962
|
0.00001
|
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=)
|
rs774730061
|
0.00001
|
NM_152564.5(VPS13B):c.6592G>A (p.Gly2198Arg)
|
rs751576277
|
0.00001
|
NM_152564.5(VPS13B):c.6600A>G (p.Pro2200=)
|
rs1259627712
|
0.00001
|
NM_152564.5(VPS13B):c.6602G>T (p.Gly2201Val)
|
rs149727474
|
0.00001
|
NM_152564.5(VPS13B):c.6609A>C (p.Glu2203Asp)
|
rs1421107785
|
0.00001
|
NM_152564.5(VPS13B):c.6648T>C (p.Gly2216=)
|
rs746640467
|
0.00001
|
NM_152564.5(VPS13B):c.6658-3A>T
|
rs994417111
|
0.00001
|
NM_152564.5(VPS13B):c.6676C>T (p.His2226Tyr)
|
rs747340772
|
0.00001
|
NM_152564.5(VPS13B):c.6698T>C (p.Leu2233Pro)
|
rs776873589
|
0.00001
|
NM_152564.5(VPS13B):c.6708A>T (p.Leu2236Phe)
|
rs1001219779
|
0.00001
|
NM_152564.5(VPS13B):c.6723T>G (p.Leu2241=)
|
rs924902847
|
0.00001
|
NM_152564.5(VPS13B):c.6808A>T (p.Ser2270Cys)
|
rs1445900590
|
0.00001
|
NM_152564.5(VPS13B):c.6823G>C (p.Asp2275His)
|
rs1833091516
|
0.00001
|
NM_152564.5(VPS13B):c.6866-14C>A
|
rs1277958075
|
0.00001
|
NM_152564.5(VPS13B):c.6879G>A (p.Leu2293=)
|
rs753494412
|
0.00001
|
NM_152564.5(VPS13B):c.6930G>A (p.Gly2310=)
|
rs778096388
|
0.00001
|
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys)
|
rs386834104
|
0.00001
|
NM_152564.5(VPS13B):c.6948T>C (p.Tyr2316=)
|
rs774332625
|
0.00001
|
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter)
|
rs120074150
|
0.00001
|
NM_152564.5(VPS13B):c.69G>C (p.Pro23=)
|
rs570877761
|
0.00001
|
NM_152564.5(VPS13B):c.7012C>T (p.Pro2338Ser)
|
rs1833108064
|
0.00001
|
NM_152564.5(VPS13B):c.7025C>T (p.Thr2342Ile)
|
rs1833108203
|
0.00001
|
NM_152564.5(VPS13B):c.7047A>G (p.Leu2349=)
|
rs201133836
|
0.00001
|
NM_152564.5(VPS13B):c.704G>T (p.Arg235Ile)
|
rs1459648775
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_152564.5(VPS13B):c.7059T>C (p.Cys2353=)
|
rs1048602429
|
0.00001
|
NM_152564.5(VPS13B):c.7063T>C (p.Leu2355=)
|
rs1217104122
|
0.00001
|
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln)
|
rs533701597
|
0.00001
|
NM_152564.5(VPS13B):c.7088A>G (p.Lys2363Arg)
|
rs778935189
|
0.00001
|
NM_152564.5(VPS13B):c.7099G>T (p.Ala2367Ser)
|
rs1001142449
|
0.00001
|
NM_152564.5(VPS13B):c.710G>A (p.Arg237His)
|
rs751804274
|
0.00001
|
NM_152564.5(VPS13B):c.7128C>A (p.Ser2376Arg)
|
rs1811252908
|
0.00001
|
NM_152564.5(VPS13B):c.7165G>A (p.Val2389Met)
|
rs764630440
|
0.00001
|
NM_152564.5(VPS13B):c.7167G>A (p.Val2389=)
|
rs145846582
|
0.00001
|
NM_152564.5(VPS13B):c.7187T>A (p.Val2396Glu)
|
rs754410472
|
0.00001
|
NM_152564.5(VPS13B):c.7188A>G (p.Val2396=)
|
rs928101727
|
0.00001
|
NM_152564.5(VPS13B):c.7199T>C (p.Leu2400Pro)
|
rs1289418559
|
0.00001
|
NM_152564.5(VPS13B):c.7207A>G (p.Ile2403Val)
|
rs765664729
|
0.00001
|
NM_152564.5(VPS13B):c.7230T>A (p.Asn2410Lys)
|
rs758694590
|
0.00001
|
NM_152564.5(VPS13B):c.7247+9T>C
|
rs545008110
|
0.00001
|
NM_152564.5(VPS13B):c.7262C>G (p.Ser2421Cys)
|
rs1016168403
|
0.00001
|
NM_152564.5(VPS13B):c.7284T>C (p.Asp2428=)
|
rs1811763314
|
0.00001
|
NM_152564.5(VPS13B):c.7301C>T (p.Thr2434Ile)
|
rs1811763988
|
0.00001
|
NM_152564.5(VPS13B):c.7345T>C (p.Trp2449Arg)
|
rs1053258649
|
0.00001
|
NM_152564.5(VPS13B):c.7358C>T (p.Ser2453Phe)
|
rs1811766011
|
0.00001
|
NM_152564.5(VPS13B):c.7371T>C (p.Ser2457=)
|
rs545012804
|
0.00001
|
NM_152564.5(VPS13B):c.7390G>C (p.Glu2464Gln)
|
rs752014773
|
0.00001
|
NM_152564.5(VPS13B):c.7429+1G>A
|
rs386834106
|
0.00001
|
NM_152564.5(VPS13B):c.7454T>C (p.Phe2485Ser)
|
rs779696637
|
0.00001
|
NM_152564.5(VPS13B):c.7477T>A (p.Ser2493Thr)
|
rs779401089
|
0.00001
|
NM_152564.5(VPS13B):c.7485A>G (p.Leu2495=)
|
rs746175640
|
0.00001
|
NM_152564.5(VPS13B):c.7492A>G (p.Met2498Val)
|
rs772347065
|
0.00001
|
NM_152564.5(VPS13B):c.750A>G (p.Pro250=)
|
rs771965319
|
0.00001
|
NM_152564.5(VPS13B):c.7519A>G (p.Met2507Val)
|
rs1467331063
|
0.00001
|
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)
|
rs386834107
|
0.00001
|
NM_152564.5(VPS13B):c.763-10C>T
|
rs375512611
|
0.00001
|
NM_152564.5(VPS13B):c.763-7A>G
|
rs972645639
|
0.00001
|
NM_152564.5(VPS13B):c.7654A>T (p.Met2552Leu)
|
rs747240552
|
0.00001
|
NM_152564.5(VPS13B):c.7663T>G (p.Ser2555Ala)
|
rs887354798
|
0.00001
|
NM_152564.5(VPS13B):c.7686G>A (p.Leu2562=)
|
rs1253906756
|
0.00001
|
NM_152564.5(VPS13B):c.7687C>G (p.Leu2563Val)
|
rs1451188144
|
0.00001
|
NM_152564.5(VPS13B):c.7688T>G (p.Leu2563Arg)
|
rs759385151
|
0.00001
|
NM_152564.5(VPS13B):c.7692C>G (p.Asp2564Glu)
|
rs767022008
|
0.00001
|
NM_152564.5(VPS13B):c.7705G>A (p.Val2569Ile)
|
rs780461877
|
0.00001
|
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=)
|
rs981350121
|
0.00001
|
NM_152564.5(VPS13B):c.7722A>C (p.Val2574=)
|
rs1811878366
|
0.00001
|
NM_152564.5(VPS13B):c.7724A>T (p.Asn2575Ile)
|
rs549157416
|
0.00001
|
NM_152564.5(VPS13B):c.7734G>A (p.Gln2578=)
|
rs1237963374
|
0.00001
|
NM_152564.5(VPS13B):c.773T>C (p.Leu258Ser)
|
rs1026827853
|
0.00001
|
NM_152564.5(VPS13B):c.7780-2A>C
|
rs1378196300
|
0.00001
|
NM_152564.5(VPS13B):c.7824G>C (p.Val2608=)
|
rs1212084620
|
0.00001
|
NM_152564.5(VPS13B):c.7851G>A (p.Leu2617=)
|
rs920428153
|
0.00001
|
NM_152564.5(VPS13B):c.7866G>A (p.Val2622=)
|
rs772064414
|
0.00001
|
NM_152564.5(VPS13B):c.78A>G (p.Leu26=)
|
rs745980143
|
0.00001
|
NM_152564.5(VPS13B):c.7912T>C (p.Tyr2638His)
|
rs761563766
|
0.00001
|
NM_152564.5(VPS13B):c.7931A>G (p.Lys2644Arg)
|
rs760112876
|
0.00001
|
NM_152564.5(VPS13B):c.7938A>G (p.Pro2646=)
|
rs768082312
|
0.00001
|
NM_152564.5(VPS13B):c.7942-10T>C
|
rs1392078176
|
0.00001
|
NM_152564.5(VPS13B):c.7942-7T>C
|
rs200896111
|
0.00001
|
NM_152564.5(VPS13B):c.7945T>G (p.Leu2649Val)
|
rs533426135
|
0.00001
|
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=)
|
rs758430817
|
0.00001
|
NM_152564.5(VPS13B):c.7968G>A (p.Trp2656Ter)
|
rs766484806
|
0.00001
|
NM_152564.5(VPS13B):c.796A>G (p.Ile266Val)
|
rs752505325
|
0.00001
|
NM_152564.5(VPS13B):c.7974C>T (p.Asn2658=)
|
rs756420442
|
0.00001
|
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His)
|
rs555559192
|
0.00001
|
NM_152564.5(VPS13B):c.8023A>G (p.Arg2675Gly)
|
rs770879393
|
0.00001
|
NM_152564.5(VPS13B):c.8037C>T (p.Tyr2679=)
|
rs777019428
|
0.00001
|
NM_152564.5(VPS13B):c.8041G>A (p.Gly2681Ser)
|
rs762186948
|
0.00001
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
NM_152564.5(VPS13B):c.8068G>A (p.Val2690Ile)
|
rs751700874
|
0.00001
|
NM_152564.5(VPS13B):c.8097+1G>A
|
rs1813590716
|
0.00001
|
NM_152564.5(VPS13B):c.8110G>A (p.Gly2704Arg)
|
rs767536787
|
0.00001
|
NM_152564.5(VPS13B):c.813G>C (p.Leu271=)
|
rs1563548958
|
0.00001
|
NM_152564.5(VPS13B):c.8160C>A (p.Val2720=)
|
rs373348061
|
0.00001
|
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys)
|
rs138453594
|
0.00001
|
NM_152564.5(VPS13B):c.8173A>G (p.Ile2725Val)
|
rs201127443
|
0.00001
|
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln)
|
rs370701337
|
0.00001
|
NM_152564.5(VPS13B):c.8218C>T (p.Leu2740Phe)
|
rs772183822
|
0.00001
|
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe)
|
rs1016035749
|
0.00001
|
NM_152564.5(VPS13B):c.8248A>G (p.Ile2750Val)
|
rs1465869942
|
0.00001
|
NM_152564.5(VPS13B):c.826C>T (p.Arg276Cys)
|
rs1297259725
|
0.00001
|
NM_152564.5(VPS13B):c.8270C>T (p.Thr2757Met)
|
rs1297641779
|
0.00001
|
NM_152564.5(VPS13B):c.8271G>A (p.Thr2757=)
|
rs758044842
|
0.00001
|
NM_152564.5(VPS13B):c.827G>A (p.Arg276His)
|
rs181021782
|
0.00001
|
NM_152564.5(VPS13B):c.8293G>A (p.Gly2765Arg)
|
rs750963582
|
0.00001
|
NM_152564.5(VPS13B):c.8304C>T (p.Asp2768=)
|
rs1464962948
|
0.00001
|
NM_152564.5(VPS13B):c.8310A>G (p.Ser2770=)
|
rs982023622
|
0.00001
|
NM_152564.5(VPS13B):c.8343G>A (p.Glu2781=)
|
rs1372155157
|
0.00001
|
NM_152564.5(VPS13B):c.8353G>A (p.Val2785Ile)
|
rs377170629
|
0.00001
|
NM_152564.5(VPS13B):c.8361+12C>T
|
rs886062546
|
0.00001
|
NM_152564.5(VPS13B):c.8382C>T (p.Ser2794=)
|
rs1350773456
|
0.00001
|
NM_152564.5(VPS13B):c.8391T>C (p.Tyr2797=)
|
rs1221576628
|
0.00001
|
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter)
|
rs386834112
|
0.00001
|
NM_152564.5(VPS13B):c.8426C>G (p.Ser2809Cys)
|
rs1588743592
|
0.00001
|
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro)
|
rs769551176
|
0.00001
|
NM_152564.5(VPS13B):c.8445+19C>T
|
rs377331722
|
0.00001
|
NM_152564.5(VPS13B):c.8446-10A>G
|
rs1009617201
|
0.00001
|
NM_152564.5(VPS13B):c.8446-8T>A
|
rs774202116
|
0.00001
|
NM_152564.5(VPS13B):c.8460T>C (p.Pro2820=)
|
rs750875099
|
0.00001
|
NM_152564.5(VPS13B):c.8480A>G (p.His2827Arg)
|
rs755406876
|
0.00001
|
NM_152564.5(VPS13B):c.8497A>G (p.Ile2833Val)
|
rs797046096
|
0.00001
|
NM_152564.5(VPS13B):c.8498T>G (p.Ile2833Ser)
|
rs1231452283
|
0.00001
|
NM_152564.5(VPS13B):c.8506T>G (p.Leu2836Val)
|
rs1476327965
|
0.00001
|
NM_152564.5(VPS13B):c.8527T>A (p.Leu2843Met)
|
rs778838868
|
0.00001
|
NM_152564.5(VPS13B):c.8548C>T (p.Pro2850Ser)
|
rs1452503935
|
0.00001
|
NM_152564.5(VPS13B):c.8595T>C (p.Leu2865=)
|
rs761233089
|
0.00001
|
NM_152564.5(VPS13B):c.8647G>T (p.Ala2883Ser)
|
rs1260884050
|
0.00001
|
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=)
|
rs199552885
|
0.00001
|
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val)
|
rs1272294316
|
0.00001
|
NM_152564.5(VPS13B):c.8691G>A (p.Lys2897=)
|
rs1364307723
|
0.00001
|
NM_152564.5(VPS13B):c.8694A>G (p.Val2898=)
|
rs1482608670
|
0.00001
|
NM_152564.5(VPS13B):c.8697C>T (p.His2899=)
|
rs375911218
|
0.00001
|
NM_152564.5(VPS13B):c.8700T>C (p.Pro2900=)
|
rs1316265619
|
0.00001
|
NM_152564.5(VPS13B):c.8719A>G (p.Ile2907Val)
|
rs1462824433
|
0.00001
|
NM_152564.5(VPS13B):c.8735A>G (p.Tyr2912Cys)
|
rs769404310
|
0.00001
|
NM_152564.5(VPS13B):c.8741C>T (p.Pro2914Leu)
|
rs147437490
|
0.00001
|
NM_152564.5(VPS13B):c.8756A>G (p.Gln2919Arg)
|
rs987741026
|
0.00001
|
NM_152564.5(VPS13B):c.8769C>G (p.Pro2923=)
|
rs1814245219
|
0.00001
|
NM_152564.5(VPS13B):c.8792+1G>T
|
rs1415714103
|
0.00001
|
NM_152564.5(VPS13B):c.8793-6G>T
|
rs773442324
|
0.00001
|
NM_152564.5(VPS13B):c.8824A>G (p.Met2942Val)
|
rs752484886
|
0.00001
|
NM_152564.5(VPS13B):c.8825T>C (p.Met2942Thr)
|
rs1305759367
|
0.00001
|
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter)
|
rs755996065
|
0.00001
|
NM_152564.5(VPS13B):c.8881C>T (p.Leu2961=)
|
rs773387480
|
0.00001
|
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=)
|
rs753530965
|
0.00001
|
NM_152564.5(VPS13B):c.8973T>A (p.Ile2991=)
|
rs1022439402
|
0.00001
|
NM_152564.5(VPS13B):c.8994+17A>G
|
rs749842844
|
0.00001
|
NM_152564.5(VPS13B):c.9006A>G (p.Gln3002=)
|
rs952274759
|
0.00001
|
NM_152564.5(VPS13B):c.9023C>A (p.Ala3008Glu)
|
rs6992059
|
0.00001
|
NM_152564.5(VPS13B):c.9061C>T (p.Leu3021=)
|
rs1158378699
|
0.00001
|
NM_152564.5(VPS13B):c.910A>G (p.Asn304Asp)
|
rs1320309593
|
0.00001
|
NM_152564.5(VPS13B):c.9121C>T (p.Leu3041=)
|
rs1223370834
|
0.00001
|
NM_152564.5(VPS13B):c.9142G>A (p.Asp3048Asn)
|
rs1480540038
|
0.00001
|
NM_152564.5(VPS13B):c.9156A>T (p.Arg3052Ser)
|
rs747092413
|
0.00001
|
NM_152564.5(VPS13B):c.9183+7T>A
|
rs1217059382
|
0.00001
|
NM_152564.5(VPS13B):c.9186A>G (p.Leu3062=)
|
rs984224710
|
0.00001
|
NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His)
|
rs376291996
|
0.00001
|
NM_152564.5(VPS13B):c.9237G>A (p.Gln3079=)
|
rs1165828712
|
0.00001
|
NM_152564.5(VPS13B):c.927A>C (p.Gly309=)
|
rs1252576777
|
0.00001
|
NM_152564.5(VPS13B):c.9298C>T (p.Leu3100=)
|
rs780381150
|
0.00001
|
NM_152564.5(VPS13B):c.9311A>G (p.Asn3104Ser)
|
rs1157467792
|
0.00001
|
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=)
|
rs78277780
|
0.00001
|
NM_152564.5(VPS13B):c.937+8A>G
|
rs1266327291
|
0.00001
|
NM_152564.5(VPS13B):c.938-7T>A
|
rs200067547
|
0.00001
|
NM_152564.5(VPS13B):c.938-7T>C
|
rs200067547
|
0.00001
|
NM_152564.5(VPS13B):c.9413G>A (p.Cys3138Tyr)
|
rs759831421
|
0.00001
|
NM_152564.5(VPS13B):c.9433A>G (p.Ile3145Val)
|
rs756197846
|
0.00001
|
NM_152564.5(VPS13B):c.943G>A (p.Glu315Lys)
|
rs1035761875
|
0.00001
|
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=)
|
rs1383239374
|
0.00001
|
NM_152564.5(VPS13B):c.9456A>G (p.Ala3152=)
|
rs1815134452
|
0.00001
|
NM_152564.5(VPS13B):c.9468G>A (p.Gln3156=)
|
rs1423791832
|
0.00001
|
NM_152564.5(VPS13B):c.9475A>G (p.Ile3159Val)
|
rs905882677
|
0.00001
|
NM_152564.5(VPS13B):c.9481C>T (p.Leu3161=)
|
rs201494563
|
0.00001
|
NM_152564.5(VPS13B):c.9483G>A (p.Leu3161=)
|
rs750174157
|
0.00001
|
NM_152564.5(VPS13B):c.9541G>A (p.Val3181Ile)
|
rs904676214
|
0.00001
|
NM_152564.5(VPS13B):c.9546A>G (p.Arg3182=)
|
rs1434707847
|
0.00001
|
NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly)
|
rs772361332
|
0.00001
|
NM_152564.5(VPS13B):c.9582C>T (p.Leu3194=)
|
rs757859930
|
0.00001
|
NM_152564.5(VPS13B):c.9585G>A (p.Gly3195=)
|
rs1334078728
|
0.00001
|
NM_152564.5(VPS13B):c.9597A>G (p.Glu3199=)
|
rs758186677
|
0.00001
|
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=)
|
rs564362618
|
0.00001
|
NM_152564.5(VPS13B):c.9615-9C>T
|
rs1318548049
|
0.00001
|
NM_152564.5(VPS13B):c.9646G>A (p.Gly3216Arg)
|
rs758775003
|
0.00001
|
NM_152564.5(VPS13B):c.9686G>A (p.Arg3229Gln)
|
rs769856598
|
0.00001
|
NM_152564.5(VPS13B):c.969A>G (p.Gln323=)
|
rs1443301786
|
0.00001
|
NM_152564.5(VPS13B):c.9742+12A>G
|
rs763822536
|
0.00001
|
NM_152564.5(VPS13B):c.9748C>G (p.Pro3250Ala)
|
rs1295909129
|
0.00001
|
NM_152564.5(VPS13B):c.9749C>T (p.Pro3250Leu)
|
rs761208848
|
0.00001
|
NM_152564.5(VPS13B):c.9750A>G (p.Pro3250=)
|
rs764864362
|
0.00001
|
NM_152564.5(VPS13B):c.9775A>T (p.Ile3259Phe)
|
rs1425945549
|
0.00001
|
NM_152564.5(VPS13B):c.9782C>T (p.Ser3261Phe)
|
rs1372759268
|
0.00001
|
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys)
|
rs756531043
|
0.00001
|
NM_152564.5(VPS13B):c.9941A>G (p.Gln3314Arg)
|
rs558911841
|
0.00001
|
NM_152564.5(VPS13B):c.9957T>C (p.Thr3319=)
|
rs560490673
|
0.00001
|
NM_152564.5(VPS13B):c.9968A>G (p.Tyr3323Cys)
|
rs376549169
|
0.00001
|
NM_152564.5(VPS13B):c.9975T>C (p.Tyr3325=)
|
rs369522130
|
0.00001
|
NM_152564.5(VPS13B):c.9976G>A (p.Val3326Met)
|
rs754882929
|
0.00001
|
NM_152564.5(VPS13B):c.999A>G (p.Leu333=)
|
rs762085583
|
0.00001
|
GRCh37/hg19 8q22.2(chr8:100067471-100156392)
|
|
|
GRCh37/hg19 8q22.2(chr8:100108619-100160324)
|
|
|
GRCh37/hg19 8q22.2(chr8:100123326-100182391)
|
|
|
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1
|
|
|
GRCh37/hg19 8q22.2(chr8:100168626-100298366)
|
|
|
GRCh37/hg19 8q22.2(chr8:100232749-100493790)
|
|
|
GRCh37/hg19 8q22.2(chr8:100274176-100477297)
|
|
|
GRCh37/hg19 8q22.2(chr8:100479441-100545102)
|
|
|
GRCh37/hg19 8q22.2(chr8:100587642-100712137)
|
|
|
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
|
|
|
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
|
|
|
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
|
|
|
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
|
|
|
NC_000008.10:g.(?_100025484)_(100026173_?)del
|
|
|
NC_000008.10:g.(?_100026017)_(100026183_?)del
|
|
|
NC_000008.10:g.(?_100026017)_(100026183_?)dup
|
|
|
NC_000008.10:g.(?_100026017)_(100133693_?)dup
|
|
|
NC_000008.10:g.(?_100026017)_(100149000_?)dup
|
|
|
NC_000008.10:g.(?_100026017)_(100287502_?)dup
|
|
|
NC_000008.10:g.(?_100026017)_(100887894_?)del
|
|
|
NC_000008.10:g.(?_100050631)_(100115368_?)del
|
|
|
NC_000008.10:g.(?_100050631)_(100396565_?)dup
|
|
|
NC_000008.10:g.(?_100108520)_(100205305_?)dup
|
|
|
NC_000008.10:g.(?_100108530)_(100128112_?)del
|
|
|
NC_000008.10:g.(?_100108530)_(100155403_?)dup
|
|
|
NC_000008.10:g.(?_100108530)_(100182401_?)del
|
|
|
NC_000008.10:g.(?_100108530)_(100182401_?)dup
|
|
|
NC_000008.10:g.(?_100108530)_(100205295_?)del
|
|
|
NC_000008.10:g.(?_100108530)_(100287492_?)del
|
|
|
NC_000008.10:g.(?_100108530)_(100494040_?)del
|
|
|
NC_000008.10:g.(?_100123306)_(100133735_?)dup
|
|
|
NC_000008.10:g.(?_100123306)_(100182411_?)del
|
|
|
NC_000008.10:g.(?_100123306)_(100403952_?)del
|
|
|
NC_000008.10:g.(?_100123316)_(100123517_?)del
|
|
|
NC_000008.10:g.(?_100133395)_(100134000_?)del
|
|
|
NC_000008.10:g.(?_100146850)_(100221906_?)del
|
|
|
NC_000008.10:g.(?_100146850)_(100287492_?)del
|
|
|
NC_000008.10:g.(?_100146850)_(100533248_?)del
|
|
|
NC_000008.10:g.(?_100147223)_(100155413_?)del
|
|
|
NC_000008.10:g.(?_100155192)_(100287492_?)del
|
|
|
NC_000008.10:g.(?_100155202)_(100221801_?)del
|
|
|
NC_000008.10:g.(?_100157931)_(100160219_?)del
|
|
|
NC_000008.10:g.(?_100160049)_(100160258_?)del
|
|
|
NC_000008.10:g.(?_100160049)_(100168991_?)del
|
|
|
NC_000008.10:g.(?_100168757)_(100168991_?)del
|
|
|
NC_000008.10:g.(?_100182257)_(100221906_?)del
|
|
|
NC_000008.10:g.(?_100182257)_(100479872_?)del
|
|
|
NC_000008.10:g.(?_100205084)_(100454883_?)del
|
|
|
NC_000008.10:g.(?_100205094)_(100205295_?)dup
|
|
|
NC_000008.10:g.(?_100205094)_(100287492_?)del
|
|
|
NC_000008.10:g.(?_100205094)_(100287492_?)dup
|
|
|
NC_000008.10:g.(?_100205094)_(100733285_?)del
|
|
|
NC_000008.10:g.(?_100286406)_(100494050_?)del
|
|
|
NC_000008.10:g.(?_100286406)_(100520159_?)del
|
|
|
NC_000008.10:g.(?_100286406)_(100523760_?)del
|
|
|
NC_000008.10:g.(?_100286406)_(100874194_?)del
|
|
|
NC_000008.10:g.(?_100286416)_(100454873_?)del
|
|
|
NC_000008.10:g.(?_100286416)_(100568891_?)del
|
|
|
NC_000008.10:g.(?_100286416)_(100673729_?)del
|
|
|
NC_000008.10:g.(?_100286416)_(100821768_?)del
|
|
|
NC_000008.10:g.(?_100396416)_(100396565_?)del
|
|
|
NC_000008.10:g.(?_100396416)_(100443912_?)del
|
|
|
NC_000008.10:g.(?_100396426)_(100403942_?)del
|
|
|
NC_000008.10:g.(?_100396426)_(100454873_?)del
|
|
|
NC_000008.10:g.(?_100396426)_(100479872_?)dup
|
|
|
NC_000008.10:g.(?_100396426)_(100523750_?)del
|
|
|
NC_000008.10:g.(?_100396426)_(100589871_?)del
|
|
|
NC_000008.10:g.(?_100403765)_(100403952_?)del
|
|
|
NC_000008.10:g.(?_100443745)_(100443912_?)del
|
|
|
NC_000008.10:g.(?_100443745)_(100454883_?)del
|
|
|
NC_000008.10:g.(?_100443745)_(100589881_?)del
|
|
|
NC_000008.10:g.(?_100443755)_(100443902_?)dup
|
|
|
NC_000008.10:g.(?_100443755)_(100568891_?)del
|
|
|
NC_000008.10:g.(?_100454619)_(100533248_?)del
|
|
|
NC_000008.10:g.(?_100454619)_(100673729_?)del
|
|
|
NC_000008.10:g.(?_100479622)_(100533258_?)del
|
|
|
NC_000008.10:g.(?_100479622)_(100589881_?)del
|
|
|
NC_000008.10:g.(?_100479632)_(100494040_?)del
|
|
|
NC_000008.10:g.(?_100493807)_(100533258_?)del
|
|
|
NC_000008.10:g.(?_100493807)_(100729621_?)del
|
|
|
NC_000008.10:g.(?_100493817)_(100588022_?)del
|
|
|
NC_000008.10:g.(?_100513905)_(100514096_?)del
|
|
|
NC_000008.10:g.(?_100519978)_(100533258_?)del
|
|
|
NC_000008.10:g.(?_100533107)_(100588032_?)del
|
|
|
NC_000008.10:g.(?_100533107)_(100733295_?)del
|
|
|
NC_000008.10:g.(?_100533117)_(100568891_?)del
|
|
|
NC_000008.10:g.(?_100568668)_(100568891_?)del
|
|
|
NC_000008.10:g.(?_100568668)_(100589871_?)del
|
|
|
NC_000008.10:g.(?_100568668)_(100654736_?)del
|
|
|
NC_000008.10:g.(?_100568668)_(100673729_?)del
|
|
|
NC_000008.10:g.(?_100568668)_(100673729_?)dup
|
|
|
NC_000008.10:g.(?_100587866)_(100589881_?)dup
|
|
|
NC_000008.10:g.(?_100654019)_(100673739_?)del
|
|
|
NC_000008.10:g.(?_100654029)_(100654736_?)del
|
|
|
NC_000008.10:g.(?_100654029)_(100654736_?)dup
|
|
|
NC_000008.10:g.(?_100654029)_(100673729_?)del
|
|
|
NC_000008.10:g.(?_100654029)_(100712170_?)del
|
|
|
NC_000008.10:g.(?_100654029)_(100733285_?)del
|
|
|
NC_000008.10:g.(?_100711733)_(100796724_?)del
|
|
|
NC_000008.10:g.(?_100711743)_(100712170_?)del
|
|
|
NC_000008.10:g.(?_100778144)_(100779154_?)del
|
|
|
NC_000008.10:g.(?_100778992)_(100779208_?)del
|
|
|
NC_000008.10:g.(?_100821583)_(100821778_?)del
|
|
|
NC_000008.10:g.(?_100821603)_(100821758_?)del
|
|
|
NC_000008.10:g.(?_100830669)_(100833720_?)del
|
|
|
NC_000008.10:g.(?_100860984)_(100866504_?)del
|
|
|
NC_000008.10:g.(?_100882993)_(100883945_?)dup
|
|
|
NC_000008.10:g.(?_100883666)_(100883935_?)del
|
|
|
NC_000008.10:g.100246250_100460500del
|
|
|
NC_000008.11:g.(?_99013769)_(99209688_?)del
|
|
|
NC_000008.11:g.(?_99013769)_(99875686_?)dup
|
|
|
NC_000008.11:g.(?_99096292)_(99156763_?)del
|
|
|
NC_000008.11:g.(?_99096292)_(99193077_?)del
|
|
|
NC_000008.11:g.(?_99096302)_(99136762_?)del
|
|
|
NC_000008.11:g.(?_99096302)_(99556663_?)del
|
|
|
NC_000008.11:g.(?_99096312)_(99148010_?)del
|
|
|
NC_000008.11:g.(?_99102933)_(99103140_?)del
|
|
|
NC_000008.11:g.(?_99102933)_(99209688_?)del
|
|
|
NC_000008.11:g.(?_99102953)_(99170163_?)del
|
|
|
NC_000008.11:g.(?_99111088)_(99170173_?)del
|
|
|
NC_000008.11:g.(?_99115680)_(99193077_?)del
|
|
|
NC_000008.11:g.(?_99121157)_(99193077_?)del
|
|
|
NC_000008.11:g.(?_99121167)_(99721057_?)del
|
|
|
NC_000008.11:g.(?_99134612)_(99136772_?)del
|
|
|
NC_000008.11:g.(?_99134631)_(99511512_?)dup
|
|
|
NC_000008.11:g.(?_99135005)_(99143175_?)del
|
|
|
NC_000008.11:g.(?_99135015)_(99143165_?)del
|
|
|
NC_000008.11:g.(?_99142974)_(99143165_?)del
|
|
|
NC_000008.11:g.(?_99170039)_(99170163_?)del
|
|
|
NC_000008.11:g.(?_99192876)_(99209768_?)dup
|
|
|
NC_000008.11:g.(?_99209572)_(99391724_?)del
|
|
|
NC_000008.11:g.(?_99209582)_(99275264_?)del
|
|
|
NC_000008.11:g.(?_99384188)_(99511532_?)del
|
|
|
NC_000008.11:g.(?_99391537)_(99521030_?)del
|
|
|
NC_000008.11:g.(?_99391557)_(99556653_?)del
|
|
|
NC_000008.11:g.(?_99467404)_(99521020_?)del
|
|
|
NC_000008.11:g.(?_99481579)_(99721067_?)del
|
|
|
NC_000008.11:g.(?_99501677)_(99502960_?)del
|
|
|
NC_000008.11:g.(?_99520889)_(99521020_?)del
|
|
|
NC_000008.11:g.(?_99520899)_(99584089_?)del
|
|
|
NC_000008.11:g.(?_99556430)_(99577653_?)del
|
|
|
NC_000008.11:g.(?_99556430)_(99642518_?)del
|
|
|
NC_000008.11:g.(?_99661334)_(99661511_?)del
|
|
|
NC_000008.11:g.(?_99661344)_(99784486_?)del
|
|
|
NC_000008.11:g.(?_99766774)_(99784476_?)dup
|
|
|
NG_007098.2:g.(809539_810185)_(813218_815566)del
|
|
|
NG_007098.2:g.(94856_102832)_(161899_184610)del
|
|
|
NM_017890.4(VPS13B):c.10018_10021delGTTG
|
rs1554579522
|
|
NM_017890.4(VPS13B):c.6733_6748del16
|
|
|
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)
|
rs774357106
|
|
NM_017890.4:c.3542_3543ins5
|
|
|
NM_017890.4:c.7128_7129ins5
|
|
|
NM_017890.5(VPS13B):c.4158-2A>G
|
rs2133626470
|
|
NM_017890.5(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs)
|
rs1554824897
|
|
NM_017890.5(VPS13B):c.4164G>A (p.Gly1388=)
|
rs2133626492
|
|
NM_017890.5(VPS13B):c.4165G>T (p.Glu1389Ter)
|
|
|
NM_017890.5(VPS13B):c.4170G>A (p.Glu1390=)
|
|
|
NM_017890.5(VPS13B):c.4176G>A (p.Trp1392Ter)
|
|
|
NM_017890.5(VPS13B):c.4181T>C (p.Leu1394Ser)
|
|
|
NM_017890.5(VPS13B):c.4188A>G (p.Gln1396=)
|
|
|
NM_017890.5(VPS13B):c.4188A>T (p.Gln1396His)
|
rs768432188
|
|
NM_017890.5(VPS13B):c.4194A>T (p.Gly1398=)
|
rs1554824934
|
|
NM_017890.5(VPS13B):c.4196G>A (p.Gly1399Asp)
|
rs1554824936
|
|
NM_017890.5(VPS13B):c.4205T>G (p.Leu1402Arg)
|
rs2133626664
|
|
NM_017890.5(VPS13B):c.4206T>C (p.Leu1402=)
|
|
|
NM_017890.5(VPS13B):c.4207del (p.Ser1403fs)
|
|
|
NM_017890.5(VPS13B):c.4208C>T (p.Ser1403Phe)
|
rs2133626671
|
|
NM_017890.5(VPS13B):c.4215T>G (p.Thr1405=)
|
rs1455372294
|
|
NM_017890.5(VPS13B):c.4221G>A (p.Lys1407=)
|
|
|
NM_017890.5(VPS13B):c.4225A>G (p.Asn1409Asp)
|
|
|
NM_017890.5(VPS13B):c.4228_4231dup (p.Arg1411fs)
|
rs1554824976
|
|
NM_017890.5(VPS13B):c.4233dup (p.Thr1412fs)
|
rs2133626786
|
|
NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn)
|
rs1554824983
|
|
NM_017890.5(VPS13B):c.4236C>A (p.Thr1412=)
|
rs1208581851
|
|
NM_017890.5(VPS13B):c.4236C>T (p.Thr1412=)
|
rs1208581851
|
|
NM_017890.5(VPS13B):c.4243G>C (p.Val1415Leu)
|
|
|
NM_017890.5(VPS13B):c.4248A>G (p.Arg1416=)
|
rs1554825004
|
|
NM_017890.5(VPS13B):c.4250C>G (p.Pro1417Arg)
|
rs1554825009
|
|
NM_017890.5(VPS13B):c.4255A>C (p.Ser1419Arg)
|
rs1821583064
|
|
NM_017890.5(VPS13B):c.4260G>A (p.Lys1420=)
|
rs1183099236
|
|
NM_017890.5(VPS13B):c.4268C>A (p.Pro1423His)
|
|
|
NM_017890.5(VPS13B):c.4272C>G (p.Phe1424Leu)
|
rs1554825023
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
NM_017890.5(VPS13B):c.4293T>C (p.Phe1431=)
|
rs2133626942
|
|
NM_152564.5(VPS13B):c.*1101TGAT[3]
|
rs543048641
|
|
NM_152564.5(VPS13B):c.*1106_*1108dup
|
rs765534822
|
|
NM_152564.5(VPS13B):c.*1211G>A
|
rs1025183545
|
|
NM_152564.5(VPS13B):c.*1212TC[4]
|
rs1258731393
|
|
NM_152564.5(VPS13B):c.*1431G>A
|
rs866313484
|
|
NM_152564.5(VPS13B):c.*1483C>A
|
rs886062558
|
|
NM_152564.5(VPS13B):c.*1504_*1507dup
|
rs747583708
|
|
NM_152564.5(VPS13B):c.*1570G>A
|
rs186440514
|
|
NM_152564.5(VPS13B):c.*1571A>G
|
rs1817736511
|
|
NM_152564.5(VPS13B):c.*250_*252dup
|
rs71274940
|
|
NM_152564.5(VPS13B):c.*270C>T
|
rs886062550
|
|
NM_152564.5(VPS13B):c.*33_*36dup
|
rs373852425
|
|
NM_152564.5(VPS13B):c.*374ATTT[1]
|
rs374440758
|
|
NM_152564.5(VPS13B):c.*431TTA[1]
|
rs10542428
|
|
NM_152564.5(VPS13B):c.*597_*598dup
|
rs397791669
|
|
NM_152564.5(VPS13B):c.*700GAT[1]
|
rs60078732
|
|
NM_152564.5(VPS13B):c.*701A>T
|
rs932121133
|
|
NM_152564.5(VPS13B):c.*733A>T
|
rs886062555
|
|
NM_152564.5(VPS13B):c.*740G>C
|
rs886062556
|
|
NM_152564.5(VPS13B):c.10000_10019dup (p.Pro3341fs)
|
rs2130902516
|
|
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs)
|
rs386834054
|
|
NM_152564.5(VPS13B):c.10002A>G (p.Thr3334=)
|
|
|
NM_152564.5(VPS13B):c.10008C>T (p.Phe3336=)
|
|
|
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met)
|
rs542986432
|
|
NM_152564.5(VPS13B):c.10018G>A (p.Ala3340Thr)
|
rs1816114703
|
|
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs)
|
rs1057516324
|
|
NM_152564.5(VPS13B):c.10020C>A (p.Ala3340=)
|
|
|
NM_152564.5(VPS13B):c.1002T>C (p.Tyr334=)
|
|
|
NM_152564.5(VPS13B):c.10030A>G (p.Lys3344Glu)
|
|
|
NM_152564.5(VPS13B):c.10037G>C (p.Gly3346Ala)
|
rs2130902601
|
|
NM_152564.5(VPS13B):c.10038A>G (p.Gly3346=)
|
|
|
NM_152564.5(VPS13B):c.10039C>T (p.Pro3347Ser)
|
|
|
NM_152564.5(VPS13B):c.10050C>A (p.Thr3350=)
|
|
|
NM_152564.5(VPS13B):c.10053T>C (p.Asn3351=)
|
rs1393247141
|
|
NM_152564.5(VPS13B):c.10056C>T (p.Thr3352=)
|
rs2130902671
|
|
NM_152564.5(VPS13B):c.10059C>G (p.Asn3353Lys)
|
|
|
NM_152564.5(VPS13B):c.1005A>G (p.Ser335=)
|
|
|
NM_152564.5(VPS13B):c.10061+10A>G
|
|
|
NM_152564.5(VPS13B):c.10061+10A>T
|
|
|
NM_152564.5(VPS13B):c.10061+10_10061+13del
|
rs2130902722
|
|
NM_152564.5(VPS13B):c.10061+16T>G
|
|
|
NM_152564.5(VPS13B):c.10061+20C>G
|
|
|
NM_152564.5(VPS13B):c.10061+20C>T
|
|
|
NM_152564.5(VPS13B):c.10061+4G>C
|
rs964791071
|
|
NM_152564.5(VPS13B):c.10062-13C>G
|
|
|
NM_152564.5(VPS13B):c.10062-13C>T
|
rs773907481
|
|
NM_152564.5(VPS13B):c.10062-13del
|
|
|
NM_152564.5(VPS13B):c.10062-15C>T
|
|
|
NM_152564.5(VPS13B):c.10062-16T>G
|
|
|
NM_152564.5(VPS13B):c.10062-17G>A
|
|
|
NM_152564.5(VPS13B):c.10062-20C>A
|
|
|
NM_152564.5(VPS13B):c.10062-2A>G
|
rs1554581156
|
|
NM_152564.5(VPS13B):c.10062-4C>T
|
rs1217688828
|
|
NM_152564.5(VPS13B):c.10062-6_10062-4del
|
|
|
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=)
|
rs61753726
|
|
NM_152564.5(VPS13B):c.10069G>A (p.Glu3357Lys)
|
rs1563509434
|
|
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter)
|
rs1554625617
|
|
NM_152564.5(VPS13B):c.10080del (p.Thr3361fs)
|
|
|
NM_152564.5(VPS13B):c.10087A>T (p.Lys3363Ter)
|
rs1816395005
|
|
NM_152564.5(VPS13B):c.1008G>C (p.Gln336His)
|
rs2132515981
|
|
NM_152564.5(VPS13B):c.10095C>T (p.Phe3365=)
|
|
|
NM_152564.5(VPS13B):c.10104G>C (p.Gln3368His)
|
|
|
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter)
|
rs1057516437
|
|
NM_152564.5(VPS13B):c.10110C>T (p.Ser3370=)
|
rs755978152
|
|
NM_152564.5(VPS13B):c.10113G>T (p.Leu3371=)
|
|
|
NM_152564.5(VPS13B):c.10128C>T (p.Asp3376=)
|
|
|
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe)
|
rs535553836
|
|
NM_152564.5(VPS13B):c.10134C>T (p.Thr3378=)
|
|
|
NM_152564.5(VPS13B):c.10137C>T (p.His3379=)
|
rs2130916576
|
|
NM_152564.5(VPS13B):c.10138C>A (p.His3380Asn)
|
|
|
NM_152564.5(VPS13B):c.10139A>G (p.His3380Arg)
|
|
|
NM_152564.5(VPS13B):c.10140C>G (p.His3380Gln)
|
rs1309702539
|
|
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter)
|
rs1014479884
|
|
NM_152564.5(VPS13B):c.10149A>T (p.Ser3383=)
|
|
|
NM_152564.5(VPS13B):c.1014T>C (p.Asp338=)
|
|
|
NM_152564.5(VPS13B):c.10152T>C (p.Ala3384=)
|
rs374129601
|
|
NM_152564.5(VPS13B):c.10159C>G (p.Leu3387Val)
|
|
|
NM_152564.5(VPS13B):c.10159C>T (p.Leu3387=)
|
rs2130916651
|
|
NM_152564.5(VPS13B):c.10161_10170del (p.Arg3388fs)
|
|
|
NM_152564.5(VPS13B):c.10165_10207del (p.Leu3389fs)
|
rs875989882
|
|
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs)
|
rs1554581267
|
|
NM_152564.5(VPS13B):c.10169C>G (p.Thr3390Arg)
|
|
|
NM_152564.5(VPS13B):c.10170A>C (p.Thr3390=)
|
|
|
NM_152564.5(VPS13B):c.10171C>T (p.Leu3391=)
|
rs2130916698
|
|
NM_152564.5(VPS13B):c.10173G>A (p.Leu3391=)
|
rs1588786090
|
|
NM_152564.5(VPS13B):c.10175ACA[1] (p.Asn3393del)
|
rs1554581280
|
|
NM_152564.5(VPS13B):c.10181T>G (p.Ile3394Ser)
|
|
|
NM_152564.5(VPS13B):c.10189del (p.Cys3397fs)
|
|
|
NM_152564.5(VPS13B):c.10193T>C (p.Val3398Ala)
|
rs953219294
|
|
NM_152564.5(VPS13B):c.10194G>A (p.Val3398=)
|
|
|
NM_152564.5(VPS13B):c.10197C>T (p.Ala3399=)
|
rs1816400490
|
|
NM_152564.5(VPS13B):c.10198C>T (p.Pro3400Ser)
|
rs1816400653
|
|
NM_152564.5(VPS13B):c.10199C>G (p.Pro3400Arg)
|
rs368041601
|
|
NM_152564.5(VPS13B):c.10203A>T (p.Gly3401=)
|
|
|
NM_152564.5(VPS13B):c.10208G>A (p.Gly3403Asp)
|
|
|
NM_152564.5(VPS13B):c.10209dup (p.Pro3404fs)
|
|
|
NM_152564.5(VPS13B):c.1020G>A (p.Glu340=)
|
|
|
NM_152564.5(VPS13B):c.10215C>T (p.Leu3405=)
|
|
|
NM_152564.5(VPS13B):c.10224A>T (p.Glu3408Asp)
|
|
|
NM_152564.5(VPS13B):c.10227G>A (p.Glu3409=)
|
rs2130916876
|
|
NM_152564.5(VPS13B):c.10232T>G (p.Val3411Gly)
|
|
|
NM_152564.5(VPS13B):c.10233G>A (p.Val3411=)
|
|
|
NM_152564.5(VPS13B):c.10233G>C (p.Val3411=)
|
|
|
NM_152564.5(VPS13B):c.10242G>T (p.Leu3414Phe)
|
rs746258724
|
|
NM_152564.5(VPS13B):c.10246G>A (p.Glu3416Lys)
|
|
|
NM_152564.5(VPS13B):c.10247A>G (p.Glu3416Gly)
|
|
|
NM_152564.5(VPS13B):c.10251T>G (p.Leu3417=)
|
rs1187238292
|
|
NM_152564.5(VPS13B):c.10257T>C (p.Cys3419=)
|
rs764214907
|
|
NM_152564.5(VPS13B):c.1025C>T (p.Pro342Leu)
|
rs138271331
|
|
NM_152564.5(VPS13B):c.10263G>A (p.Glu3421=)
|
|
|
NM_152564.5(VPS13B):c.10266C>T (p.Ile3422=)
|
|
|
NM_152564.5(VPS13B):c.10270T>G (p.Cys3424Gly)
|
rs2130917061
|
|
NM_152564.5(VPS13B):c.10272T>A (p.Cys3424Ter)
|
|
|
NM_152564.5(VPS13B):c.10272T>C (p.Cys3424=)
|
|
|
NM_152564.5(VPS13B):c.10274G>C (p.Gly3425Ala)
|
rs1816406076
|
|
NM_152564.5(VPS13B):c.1027C>G (p.Gln343Glu)
|
|
|
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter)
|
rs1554625632
|
|
NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter)
|
|
|
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs)
|
rs1563509743
|
|
NM_152564.5(VPS13B):c.10297C>T (p.Leu3433Phe)
|
rs1816407178
|
|
NM_152564.5(VPS13B):c.10299T>C (p.Leu3433=)
|
|
|
NM_152564.5(VPS13B):c.102C>G (p.Asp34Glu)
|
|
|
NM_152564.5(VPS13B):c.10320C>G (p.His3440Gln)
|
rs747699484
|
|
NM_152564.5(VPS13B):c.10320C>T (p.His3440=)
|
|
|
NM_152564.5(VPS13B):c.10325C>T (p.Ala3442Val)
|
|
|
NM_152564.5(VPS13B):c.10326T>G (p.Ala3442=)
|
rs2130917205
|
|
NM_152564.5(VPS13B):c.10327del (p.Val3443fs)
|
rs1816408985
|
|
NM_152564.5(VPS13B):c.1032A>G (p.Gly344=)
|
|
|
NM_152564.5(VPS13B):c.10335C>T (p.Val3445=)
|
rs575624046
|
|
NM_152564.5(VPS13B):c.10337G>T (p.Cys3446Phe)
|
rs1260587896
|
|
NM_152564.5(VPS13B):c.10344A>G (p.Gly3448=)
|
|
|
NM_152564.5(VPS13B):c.1034G>A (p.Trp345Ter)
|
|
|
NM_152564.5(VPS13B):c.10351G>A (p.Ala3451Thr)
|
rs1343470928
|
|
NM_152564.5(VPS13B):c.10352_10354del (p.Ala3451del)
|
rs1554581420
|
|
NM_152564.5(VPS13B):c.10356A>G (p.Glu3452=)
|
rs2130917266
|
|
NM_152564.5(VPS13B):c.10359C>T (p.Pro3453=)
|
|
|
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs)
|
rs1554581430
|
|
NM_152564.5(VPS13B):c.10371C>T (p.Ser3457=)
|
|
|
NM_152564.5(VPS13B):c.10376T>C (p.Met3459Thr)
|
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
NM_152564.5(VPS13B):c.10384C>G (p.Leu3462Val)
|
rs761972356
|
|
NM_152564.5(VPS13B):c.10386C>G (p.Leu3462=)
|
|
|
NM_152564.5(VPS13B):c.10389C>A (p.Leu3463=)
|
|
|
NM_152564.5(VPS13B):c.1038G>T (p.Val346=)
|
|
|
NM_152564.5(VPS13B):c.10401A>G (p.Lys3467=)
|
|
|
NM_152564.5(VPS13B):c.10403A>G (p.Glu3468Gly)
|
rs2130917390
|
|
NM_152564.5(VPS13B):c.10405T>C (p.Leu3469=)
|
|
|
NM_152564.5(VPS13B):c.1040C>T (p.Ser347Leu)
|
|
|
NM_152564.5(VPS13B):c.1040del (p.Ser347fs)
|
rs1057516971
|
|
NM_152564.5(VPS13B):c.10413A>G (p.Glu3471=)
|
|
|
NM_152564.5(VPS13B):c.10414T>C (p.Tyr3472His)
|
rs1816414341
|
|
NM_152564.5(VPS13B):c.10419G>A (p.Lys3473=)
|
rs2130917440
|
|
NM_152564.5(VPS13B):c.1041A>T (p.Ser347=)
|
rs149176010
|
|
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs)
|
rs1816414644
|
|
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg)
|
rs886062549
|
|
NM_152564.5(VPS13B):c.1043G>A (p.Trp348Ter)
|
rs2132516120
|
|
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs)
|
rs1554581504
|
|
NM_152564.5(VPS13B):c.10441T>C (p.Cys3481Arg)
|
|
|
NM_152564.5(VPS13B):c.10449C>T (p.Thr3483=)
|
|
|
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter)
|
rs1847921335
|
|
NM_152564.5(VPS13B):c.10455T>C (p.Asn3485=)
|
rs2130917547
|
|
NM_152564.5(VPS13B):c.10455T>G (p.Asn3485Lys)
|
rs2130917547
|
|
NM_152564.5(VPS13B):c.10458A>G (p.Glu3486=)
|
rs2130917565
|
|
NM_152564.5(VPS13B):c.10459G>A (p.Gly3487Ser)
|
|
|
NM_152564.5(VPS13B):c.1045G>A (p.Ala349Thr)
|
|
|
NM_152564.5(VPS13B):c.10461C>G (p.Gly3487=)
|
|
|
NM_152564.5(VPS13B):c.10470C>T (p.Ile3490=)
|
|
|
NM_152564.5(VPS13B):c.10476T>C (p.Cys3492=)
|
|
|
NM_152564.5(VPS13B):c.1047C>T (p.Ala349=)
|
rs751477638
|
|
NM_152564.5(VPS13B):c.10481T>A (p.Ile3494Asn)
|
|
|
NM_152564.5(VPS13B):c.10497T>C (p.Phe3499=)
|
rs781420614
|
|
NM_152564.5(VPS13B):c.10497T>G (p.Phe3499Leu)
|
rs781420614
|
|
NM_152564.5(VPS13B):c.10501T>C (p.Leu3501=)
|
|
|
NM_152564.5(VPS13B):c.10510G>C (p.Ala3504Pro)
|
rs2130917686
|
|
NM_152564.5(VPS13B):c.10513C>A (p.Arg3505=)
|
|
|
NM_152564.5(VPS13B):c.10514G>A (p.Arg3505Gln)
|
|
|
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu)
|
rs770999005
|
|
NM_152564.5(VPS13B):c.10518A>G (p.Leu3506=)
|
rs759427770
|
|
NM_152564.5(VPS13B):c.10527A>G (p.Glu3509=)
|
rs113120767
|
|
NM_152564.5(VPS13B):c.10533A>C (p.Thr3511=)
|
|
|
NM_152564.5(VPS13B):c.10538T>C (p.Val3513Ala)
|
rs1816420784
|
|
NM_152564.5(VPS13B):c.10539A>T (p.Val3513=)
|
|
|
NM_152564.5(VPS13B):c.10544A>G (p.Tyr3515Cys)
|
rs1816421633
|
|
NM_152564.5(VPS13B):c.10544_10545delinsGA (p.Tyr3515Ter)
|
|
|
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter)
|
rs758842658
|
|
NM_152564.5(VPS13B):c.10555T>G (p.Leu3519Val)
|
rs755371144
|
|
NM_152564.5(VPS13B):c.10555_10556del (p.Leu3519fs)
|
rs1554581632
|
|
NM_152564.5(VPS13B):c.10557G>A (p.Leu3519=)
|
rs2130917868
|
|
NM_152564.5(VPS13B):c.10557del (p.Leu3519fs)
|
rs1816422602
|
|
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs)
|
rs1354326532
|
|
NM_152564.5(VPS13B):c.10563C>T (p.Asp3521=)
|
|
|
NM_152564.5(VPS13B):c.1056T>G (p.Phe352Leu)
|
|
|
NM_152564.5(VPS13B):c.10570C>T (p.Leu3524Phe)
|
rs2130917896
|
|
NM_152564.5(VPS13B):c.10578C>G (p.Asn3526Lys)
|
rs148265212
|
|
NM_152564.5(VPS13B):c.10578C>T (p.Asn3526=)
|
|
|
NM_152564.5(VPS13B):c.10579A>C (p.Ser3527Arg)
|
rs1816423653
|
|
NM_152564.5(VPS13B):c.10581C>T (p.Ser3527=)
|
rs770945510
|
|
NM_152564.5(VPS13B):c.10594C>G (p.His3532Asp)
|
rs1588786822
|
|
NM_152564.5(VPS13B):c.1059G>A (p.Val353=)
|
|
|
NM_152564.5(VPS13B):c.105G>A (p.Val35=)
|
rs2132125551
|
|
NM_152564.5(VPS13B):c.105G>T (p.Val35=)
|
rs2132125551
|
|
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs)
|
rs1554581676
|
|
NM_152564.5(VPS13B):c.10605C>T (p.His3535=)
|
rs937349095
|
|
NM_152564.5(VPS13B):c.10613G>A (p.Gly3538Glu)
|
|
|
NM_152564.5(VPS13B):c.1061C>T (p.Pro354Leu)
|
rs1274673849
|
|
NM_152564.5(VPS13B):c.10629G>A (p.Leu3543=)
|
|
|
NM_152564.5(VPS13B):c.10633A>C (p.Met3545Leu)
|
|
|
NM_152564.5(VPS13B):c.10633A>T (p.Met3545Leu)
|
|
|
NM_152564.5(VPS13B):c.10634T>A (p.Met3545Lys)
|
rs1816426749
|
|
NM_152564.5(VPS13B):c.10636C>T (p.Gln3546Ter)
|
|
|
NM_152564.5(VPS13B):c.10638G>A (p.Gln3546=)
|
|
|
NM_152564.5(VPS13B):c.10644A>G (p.Thr3548=)
|
|
|
NM_152564.5(VPS13B):c.10644A>T (p.Thr3548=)
|
rs2130918119
|
|
NM_152564.5(VPS13B):c.1064C>A (p.Ala355Glu)
|
|
|
NM_152564.5(VPS13B):c.10650C>G (p.His3550Gln)
|
rs372367817
|
|
NM_152564.5(VPS13B):c.10651G>A (p.Ala3551Thr)
|
|
|
NM_152564.5(VPS13B):c.10653C>G (p.Ala3551=)
|
rs2130918176
|
|
NM_152564.5(VPS13B):c.10659C>T (p.Ala3553=)
|
rs2130918188
|
|
NM_152564.5(VPS13B):c.10660T>C (p.Leu3554=)
|
|
|
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
|
|
|
NM_152564.5(VPS13B):c.10664T>C (p.Val3555Ala)
|
rs2130918209
|
|
NM_152564.5(VPS13B):c.10667A>C (p.Asn3556Thr)
|
|
|
NM_152564.5(VPS13B):c.10670C>T (p.Pro3557Leu)
|
|
|
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs)
|
rs1057517137
|
|
NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter)
|
|
|
NM_152564.5(VPS13B):c.10680A>G (p.Leu3560=)
|
rs779816885
|
|
NM_152564.5(VPS13B):c.10681C>A (p.Arg3561=)
|
rs200232124
|
|
NM_152564.5(VPS13B):c.10689G>A (p.Leu3563=)
|
rs1482772027
|
|
NM_152564.5(VPS13B):c.10696C>T (p.Gln3566Ter)
|
rs2130918298
|
|
NM_152564.5(VPS13B):c.10705A>G (p.Asn3569Asp)
|
rs2130918326
|
|
NM_152564.5(VPS13B):c.10707T>C (p.Asn3569=)
|
|
|
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs)
|
rs1554625693
|
|
NM_152564.5(VPS13B):c.10726G>A (p.Ala3576Thr)
|
rs779069069
|
|
NM_152564.5(VPS13B):c.10728T>C (p.Ala3576=)
|
|
|
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter)
|
rs1057520769
|
|
NM_152564.5(VPS13B):c.10739T>C (p.Leu3580Pro)
|
|
|
NM_152564.5(VPS13B):c.10740G>A (p.Leu3580=)
|
|
|
NM_152564.5(VPS13B):c.10740G>T (p.Leu3580=)
|
rs768333660
|
|
NM_152564.5(VPS13B):c.10743C>T (p.Tyr3581=)
|
|
|
NM_152564.5(VPS13B):c.10749C>T (p.Ala3583=)
|
rs2130918435
|
|
NM_152564.5(VPS13B):c.1075T>C (p.Tyr359His)
|
|
|
NM_152564.5(VPS13B):c.10761T>C (p.Thr3587=)
|
|
|
NM_152564.5(VPS13B):c.10763C>G (p.Pro3588Arg)
|
|
|
NM_152564.5(VPS13B):c.10764T>G (p.Pro3588=)
|
rs1477900241
|
|
NM_152564.5(VPS13B):c.10765C>G (p.Leu3589Val)
|
|
|
NM_152564.5(VPS13B):c.10765C>T (p.Leu3589Phe)
|
rs551114360
|
|
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs)
|
rs386834056
|
|
NM_152564.5(VPS13B):c.10770C>T (p.Ser3590=)
|
|
|
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del)
|
rs1554581821
|
|
NM_152564.5(VPS13B):c.10775C>T (p.Ser3592Leu)
|
|
|
NM_152564.5(VPS13B):c.10776G>C (p.Ser3592=)
|
rs547516730
|
|
NM_152564.5(VPS13B):c.10779G>A (p.Val3593=)
|
rs2130918492
|
|
NM_152564.5(VPS13B):c.10787G>T (p.Arg3596Ile)
|
|
|
NM_152564.5(VPS13B):c.10791A>G (p.Gly3597=)
|
rs985145622
|
|
NM_152564.5(VPS13B):c.10794C>G (p.Pro3598=)
|
|
|
NM_152564.5(VPS13B):c.10794C>T (p.Pro3598=)
|
rs776249260
|
|
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs)
|
rs1057516274
|
|
NM_152564.5(VPS13B):c.107T>A (p.Val36Glu)
|
rs1433110217
|
|
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs)
|
rs1554561356
|
|
NM_152564.5(VPS13B):c.10800C>T (p.Phe3600=)
|
|
|
NM_152564.5(VPS13B):c.10804A>T (p.Thr3602Ser)
|
|
|
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
|
|
|
NM_152564.5(VPS13B):c.10808C>G (p.Ala3603Gly)
|
|
|
NM_152564.5(VPS13B):c.1080C>T (p.Asp360=)
|
rs755878394
|
|
NM_152564.5(VPS13B):c.10812del (p.Arg3604fs)
|
|
|
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter)
|
rs120074154
|
|
NM_152564.5(VPS13B):c.10815G>T (p.Gln3605His)
|
|
|
NM_152564.5(VPS13B):c.10818T>C (p.Leu3606=)
|
|
|
NM_152564.5(VPS13B):c.1081G>A (p.Asp361Asn)
|
|
|
NM_152564.5(VPS13B):c.1081G>C (p.Asp361His)
|
rs749019850
|
|
NM_152564.5(VPS13B):c.1081G>T (p.Asp361Tyr)
|
|
|
NM_152564.5(VPS13B):c.10821G>A (p.Val3607=)
|
rs1554581864
|
|
NM_152564.5(VPS13B):c.10825G>T (p.Ala3609Ser)
|
|
|
NM_152564.5(VPS13B):c.1082A>G (p.Asp361Gly)
|
|
|
NM_152564.5(VPS13B):c.10830G>A (p.Leu3610=)
|
|
|
NM_152564.5(VPS13B):c.10841A>G (p.Tyr3614Cys)
|
|
|
NM_152564.5(VPS13B):c.10842T>C (p.Tyr3614=)
|
rs2130918674
|
|
NM_152564.5(VPS13B):c.10844C>A (p.Ala3615Asp)
|
|
|
NM_152564.5(VPS13B):c.10845C>A (p.Ala3615=)
|
|
|
NM_152564.5(VPS13B):c.10867+11A>C
|
|
|
NM_152564.5(VPS13B):c.10867+15T>C
|
rs924741671
|
|
NM_152564.5(VPS13B):c.10867+18G>A
|
|
|
NM_152564.5(VPS13B):c.10867+1G>T
|
rs780902262
|
|
NM_152564.5(VPS13B):c.10867+20del
|
|
|
NM_152564.5(VPS13B):c.10867+8C>T
|
rs2130918754
|
|
NM_152564.5(VPS13B):c.10867+9A>C
|
|
|
NM_152564.5(VPS13B):c.10868-10T>C
|
|
|
NM_152564.5(VPS13B):c.10868-10T>G
|
|
|
NM_152564.5(VPS13B):c.10868-11G>A
|
rs373157768
|
|
NM_152564.5(VPS13B):c.10868-11G>T
|
|
|
NM_152564.5(VPS13B):c.10868-15T>C
|
|
|
NM_152564.5(VPS13B):c.10868-16C>G
|
rs371370357
|
|
NM_152564.5(VPS13B):c.10868-20T>G
|
rs2130933205
|
|
NM_152564.5(VPS13B):c.10868-2A>C
|
rs745404712
|
|
NM_152564.5(VPS13B):c.10868-2A>G
|
|
|
NM_152564.5(VPS13B):c.10868-5T>C
|
|
|
NM_152564.5(VPS13B):c.10868-6T>C
|
rs2130933328
|
|
NM_152564.5(VPS13B):c.10868-8_10868-7del
|
|
|
NM_152564.5(VPS13B):c.10868-9G>T
|
|
|
NM_152564.5(VPS13B):c.1086C>T (p.Gly362=)
|
|
|
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)
|
rs386834057
|
|
NM_152564.5(VPS13B):c.10871G>C (p.Trp3624Ser)
|
|
|
NM_152564.5(VPS13B):c.10873G>T (p.Val3625Leu)
|
rs777314496
|
|
NM_152564.5(VPS13B):c.10874T>C (p.Val3625Ala)
|
|
|
NM_152564.5(VPS13B):c.10878T>C (p.Val3626=)
|
rs1334951450
|
|
NM_152564.5(VPS13B):c.1087G>C (p.Glu363Gln)
|
|
|
NM_152564.5(VPS13B):c.10885_10887del (p.Leu3629del)
|
rs1554583497
|
|
NM_152564.5(VPS13B):c.10892_10893del (p.Ile3631fs)
|
|
|
NM_152564.5(VPS13B):c.10899C>A (p.Gly3633=)
|
rs2130933459
|
|
NM_152564.5(VPS13B):c.10902C>T (p.Ser3634=)
|
rs2130933479
|
|
NM_152564.5(VPS13B):c.10908A>C (p.Ala3636=)
|
|
|
NM_152564.5(VPS13B):c.10908A>G (p.Ala3636=)
|
rs1191575037
|
|
NM_152564.5(VPS13B):c.10917G>A (p.Val3639=)
|
rs2130933540
|
|
NM_152564.5(VPS13B):c.10926C>T (p.Ile3642=)
|
|
|
NM_152564.5(VPS13B):c.10929G>C (p.Gly3643=)
|
|
|
NM_152564.5(VPS13B):c.1092A>G (p.Glu364=)
|
|
|
NM_152564.5(VPS13B):c.10934G>C (p.Gly3645Ala)
|
|
|
NM_152564.5(VPS13B):c.10936G>A (p.Val3646Ile)
|
rs1816712060
|
|
NM_152564.5(VPS13B):c.10936del (p.Val3646fs)
|
rs2130933596
|
|
NM_152564.5(VPS13B):c.10937T>G (p.Val3646Gly)
|
|
|
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=)
|
rs758028194
|
|
NM_152564.5(VPS13B):c.10945TTC[1] (p.Phe3650del)
|
|
|
NM_152564.5(VPS13B):c.1094A>C (p.Asp365Ala)
|
rs2132516334
|
|
NM_152564.5(VPS13B):c.10959G>C (p.Pro3653=)
|
|
|
NM_152564.5(VPS13B):c.10961A>G (p.Tyr3654Cys)
|
|
|
NM_152564.5(VPS13B):c.10961A>T (p.Tyr3654Phe)
|
rs774678400
|
|
NM_152564.5(VPS13B):c.10967G>C (p.Gly3656Ala)
|
|
|
NM_152564.5(VPS13B):c.10968G>T (p.Gly3656=)
|
rs2130933693
|
|
NM_152564.5(VPS13B):c.10974C>A (p.Thr3658=)
|
|
|
NM_152564.5(VPS13B):c.10974C>G (p.Thr3658=)
|
rs375117356
|
|
NM_152564.5(VPS13B):c.10975C>T (p.Arg3659Trp)
|
rs1420283003
|
|
NM_152564.5(VPS13B):c.10975del (p.Arg3659fs)
|
rs1816713664
|
|
NM_152564.5(VPS13B):c.10976G>T (p.Arg3659Leu)
|
rs370507425
|
|
NM_152564.5(VPS13B):c.10977G>A (p.Arg3659=)
|
|
|
NM_152564.5(VPS13B):c.10980C>A (p.Gly3660=)
|
|
|
NM_152564.5(VPS13B):c.10982del (p.Pro3661fs)
|
rs2130933734
|
|
NM_152564.5(VPS13B):c.10983T>C (p.Pro3661=)
|
|
|
NM_152564.5(VPS13B):c.1098T>C (p.Phe366=)
|
rs1490561096
|
|
NM_152564.5(VPS13B):c.10993G>C (p.Val3665Leu)
|
rs151089043
|
|
NM_152564.5(VPS13B):c.11001C>A (p.Gly3667=)
|
rs367797468
|
|
NM_152564.5(VPS13B):c.11004C>T (p.Val3668=)
|
rs1816715303
|
|
NM_152564.5(VPS13B):c.11007C>T (p.Ser3669=)
|
rs2130933830
|
|
NM_152564.5(VPS13B):c.11008A>C (p.Arg3670=)
|
rs2130933833
|
|
NM_152564.5(VPS13B):c.11016C>T (p.Thr3672=)
|
rs2130933856
|
|
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
|
|
|
NM_152564.5(VPS13B):c.11016del (p.Thr3673fs)
|
|
|
NM_152564.5(VPS13B):c.11019A>T (p.Thr3673=)
|
rs1588794390
|
|
NM_152564.5(VPS13B):c.1101T>C (p.Val367=)
|
|
|
NM_152564.5(VPS13B):c.11027T>C (p.Val3676Ala)
|
|
|
NM_152564.5(VPS13B):c.11028A>C (p.Val3676=)
|
rs746157283
|
|
NM_152564.5(VPS13B):c.11031G>A (p.Lys3677=)
|
rs2130933904
|
|
NM_152564.5(VPS13B):c.11034C>T (p.His3678=)
|
rs1449788881
|
|
NM_152564.5(VPS13B):c.11035A>T (p.Ile3679Phe)
|
|
|
NM_152564.5(VPS13B):c.11044+11C>T
|
|
|
NM_152564.5(VPS13B):c.11044+12C>T
|
rs1588794469
|
|
NM_152564.5(VPS13B):c.11044+19T>C
|
|
|
NM_152564.5(VPS13B):c.11044+1G>A
|
|
|
NM_152564.5(VPS13B):c.11044+2T>C
|
rs587777382
|
|
NM_152564.5(VPS13B):c.11044+5C>G
|
|
|
NM_152564.5(VPS13B):c.11044+8G>A
|
rs2130933989
|
|
NM_152564.5(VPS13B):c.11044+8G>T
|
|
|
NM_152564.5(VPS13B):c.11045-10G>A
|
rs769628992
|
|
NM_152564.5(VPS13B):c.11045-10G>C
|
rs769628992
|
|
NM_152564.5(VPS13B):c.11045-4T>C
|
rs1588797519
|
|
NM_152564.5(VPS13B):c.11047A>G (p.Thr3683Ala)
|
|
|
NM_152564.5(VPS13B):c.11047del (p.Thr3683fs)
|
rs2130941591
|
|
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)
|
rs386834058
|
|
NM_152564.5(VPS13B):c.11055A>G (p.Thr3685=)
|
rs2130941627
|
|
NM_152564.5(VPS13B):c.11057C>A (p.Ser3686Tyr)
|
rs1464523452
|
|
NM_152564.5(VPS13B):c.11061C>T (p.Ile3687=)
|
rs2130941649
|
|
NM_152564.5(VPS13B):c.11062A>T (p.Thr3688Ser)
|
rs1588797596
|
|
NM_152564.5(VPS13B):c.11070C>G (p.Leu3690=)
|
rs185477101
|
|
NM_152564.5(VPS13B):c.11076A>G (p.Thr3692=)
|
|
|
NM_152564.5(VPS13B):c.11082G>C (p.Leu3694=)
|
|
|
NM_152564.5(VPS13B):c.11083del (p.Ala3695fs)
|
|
|
NM_152564.5(VPS13B):c.11094G>A (p.Met3698Ile)
|
|
|
NM_152564.5(VPS13B):c.11095G>A (p.Asp3699Asn)
|
rs1476526587
|
|
NM_152564.5(VPS13B):c.11097C>T (p.Asp3699=)
|
|
|
NM_152564.5(VPS13B):c.11099G>A (p.Arg3700Gln)
|
rs750753561
|
|
NM_152564.5(VPS13B):c.11099G>T (p.Arg3700Leu)
|
rs750753561
|
|
NM_152564.5(VPS13B):c.11103C>A (p.Leu3701=)
|
|
|
NM_152564.5(VPS13B):c.11103C>G (p.Leu3701=)
|
|
|
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs)
|
rs1057517202
|
|
NM_152564.5(VPS13B):c.1110T>C (p.Asp370=)
|
|
|
NM_152564.5(VPS13B):c.11113G>A (p.Glu3705Lys)
|
rs780240040
|
|
NM_152564.5(VPS13B):c.11115G>A (p.Glu3705=)
|
|
|
NM_152564.5(VPS13B):c.11124C>G (p.Tyr3708Ter)
|
rs2130941863
|
|
NM_152564.5(VPS13B):c.11124C>T (p.Tyr3708=)
|
rs2130941863
|
|
NM_152564.5(VPS13B):c.11134G>A (p.Glu3712Lys)
|
|
|
NM_152564.5(VPS13B):c.11134GAG[1] (p.Glu3713del)
|
rs781133717
|
|
NM_152564.5(VPS13B):c.11139G>A (p.Glu3713=)
|
|
|
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter)
|
rs386834060
|
|
NM_152564.5(VPS13B):c.11148G>A (p.Arg3716=)
|
rs2130941995
|
|
NM_152564.5(VPS13B):c.11158G>T (p.Glu3720Ter)
|
|
|
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs)
|
rs1057517376
|
|
NM_152564.5(VPS13B):c.11167G>A (p.Gly3723Ser)
|
|
|
NM_152564.5(VPS13B):c.11167G>C (p.Gly3723Arg)
|
rs1816856108
|
|
NM_152564.5(VPS13B):c.11169C>G (p.Gly3723=)
|
rs1175793742
|
|
NM_152564.5(VPS13B):c.11169C>T (p.Gly3723=)
|
rs1175793742
|
|
NM_152564.5(VPS13B):c.1116A>G (p.Ala372=)
|
rs2132516415
|
|
NM_152564.5(VPS13B):c.11175G>A (p.Gly3725=)
|
|
|
NM_152564.5(VPS13B):c.11179C>T (p.Arg3727Ter)
|
|
|
NM_152564.5(VPS13B):c.11181_11215+10del
|
|
|
NM_152564.5(VPS13B):c.11187C>G (p.Gly3729=)
|
|
|
NM_152564.5(VPS13B):c.11188C>T (p.Leu3730=)
|
rs201448515
|
|
NM_152564.5(VPS13B):c.11191T>C (p.Ser3731Pro)
|
rs1816857688
|
|
NM_152564.5(VPS13B):c.11194C>T (p.Arg3732Trp)
|
|
|
NM_152564.5(VPS13B):c.11199G>A (p.Leu3733=)
|
|
|
NM_152564.5(VPS13B):c.11200G>C (p.Gly3734Arg)
|
|
|
NM_152564.5(VPS13B):c.11206A>T (p.Ser3736Cys)
|
rs2130942219
|
|
NM_152564.5(VPS13B):c.11211G>A (p.Leu3737=)
|
rs1195872726
|
|
NM_152564.5(VPS13B):c.11215+10T>G
|
rs1213857516
|
|
NM_152564.5(VPS13B):c.11215+19T>C
|
|
|
NM_152564.5(VPS13B):c.11215+7G>A
|
rs1588797925
|
|
NM_152564.5(VPS13B):c.11215+8G>C
|
|
|
NM_152564.5(VPS13B):c.11216-10G>A
|
|
|
NM_152564.5(VPS13B):c.11216-14T>A
|
|
|
NM_152564.5(VPS13B):c.11216-19A>G
|
|
|
NM_152564.5(VPS13B):c.11216-1G>A
|
rs1057517441
|
|
NM_152564.5(VPS13B):c.11216-2A>G
|
rs867112705
|
|
NM_152564.5(VPS13B):c.11216-3C>G
|
|
|
NM_152564.5(VPS13B):c.11220A>G (p.Ala3740=)
|
|
|
NM_152564.5(VPS13B):c.11221A>G (p.Ile3741Val)
|
|
|
NM_152564.5(VPS13B):c.11223T>C (p.Ile3741=)
|
|
|
NM_152564.5(VPS13B):c.1122C>A (p.Thr374=)
|
rs2132516445
|
|
NM_152564.5(VPS13B):c.1122del (p.Met375fs)
|
|
|
NM_152564.5(VPS13B):c.11230A>G (p.Ile3744Val)
|
|
|
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs)
|
rs1347701279
|
|
NM_152564.5(VPS13B):c.11242C>A (p.Pro3748Thr)
|
rs2130962900
|
|
NM_152564.5(VPS13B):c.11243C>T (p.Pro3748Leu)
|
|
|
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=)
|
rs375229257
|
|
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=)
|
rs375229257
|
|
NM_152564.5(VPS13B):c.11252A>T (p.Asn3751Ile)
|
rs2130962939
|
|
NM_152564.5(VPS13B):c.11252del (p.Asn3751fs)
|
rs2130962934
|
|
NM_152564.5(VPS13B):c.11258A>G (p.Gln3753Arg)
|
rs2130962947
|
|
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs)
|
rs1057516245
|
|
NM_152564.5(VPS13B):c.11264C>T (p.Thr3755Ile)
|
|
|
NM_152564.5(VPS13B):c.11265A>G (p.Thr3755=)
|
|
|
NM_152564.5(VPS13B):c.11266T>C (p.Ser3756Pro)
|
|
|
NM_152564.5(VPS13B):c.11275C>G (p.Gln3759Glu)
|
rs797046093
|
|
NM_152564.5(VPS13B):c.11275C>T (p.Gln3759Ter)
|
|
|
NM_152564.5(VPS13B):c.11283A>C (p.Ser3761=)
|
rs1817209374
|
|
NM_152564.5(VPS13B):c.11284G>A (p.Ala3762Thr)
|
|
|
NM_152564.5(VPS13B):c.11285C>T (p.Ala3762Val)
|
rs767840130
|
|
NM_152564.5(VPS13B):c.1128T>C (p.His376=)
|
|
|
NM_152564.5(VPS13B):c.11292C>T (p.His3764=)
|
|
|
NM_152564.5(VPS13B):c.11298dup (p.Lys3767fs)
|
|
|
NM_152564.5(VPS13B):c.112A>T (p.Ser38Cys)
|
rs2132125588
|
|
NM_152564.5(VPS13B):c.11302G>C (p.Gly3768Arg)
|
|
|
NM_152564.5(VPS13B):c.11307C>T (p.Val3769=)
|
rs2130963089
|
|
NM_152564.5(VPS13B):c.11313G>A (p.Ser3771=)
|
rs753931096
|
|
NM_152564.5(VPS13B):c.11313G>T (p.Ser3771=)
|
rs753931096
|
|
NM_152564.5(VPS13B):c.11314G>A (p.Gly3772Ser)
|
|
|
NM_152564.5(VPS13B):c.11315G>C (p.Gly3772Ala)
|
|
|
NM_152564.5(VPS13B):c.11315del (p.Gly3772fs)
|
|
|
NM_152564.5(VPS13B):c.11316T>C (p.Gly3772=)
|
rs757459511
|
|
NM_152564.5(VPS13B):c.11316T>G (p.Gly3772=)
|
rs757459511
|
|
NM_152564.5(VPS13B):c.11319G>A (p.Val3773=)
|
|
|
NM_152564.5(VPS13B):c.11322G>A (p.Gly3774=)
|
rs2130963124
|
|
NM_152564.5(VPS13B):c.11325A>G (p.Lys3775=)
|
rs1817211481
|
|
NM_152564.5(VPS13B):c.11327G>A (p.Gly3776Glu)
|
|
|
NM_152564.5(VPS13B):c.1132C>G (p.Gln378Glu)
|
|
|
NM_152564.5(VPS13B):c.11331C>T (p.Ile3777=)
|
|
|
NM_152564.5(VPS13B):c.11334G>C (p.Met3778Ile)
|
rs779652081
|
|
NM_152564.5(VPS13B):c.11336G>C (p.Gly3779Ala)
|
|
|
NM_152564.5(VPS13B):c.11337G>C (p.Gly3779=)
|
rs2130963173
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
NM_152564.5(VPS13B):c.11339T>C (p.Val3780Ala)
|
rs1817212364
|
|
NM_152564.5(VPS13B):c.11352dup (p.Ile3785fs)
|
|
|
NM_152564.5(VPS13B):c.11355C>A (p.Ile3785=)
|
|
|
NM_152564.5(VPS13B):c.11356G>A (p.Gly3786Arg)
|
rs768255145
|
|
NM_152564.5(VPS13B):c.11360G>A (p.Gly3787Glu)
|
|
|
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs)
|
rs1554586972
|
|
NM_152564.5(VPS13B):c.11362G>A (p.Ala3788Thr)
|
|
|
NM_152564.5(VPS13B):c.11364T>G (p.Ala3788=)
|
|
|
NM_152564.5(VPS13B):c.11371C>T (p.Leu3791=)
|
rs1817214262
|
|
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs)
|
rs1554586994
|
|
NM_152564.5(VPS13B):c.11385T>C (p.Thr3795=)
|
|
|
NM_152564.5(VPS13B):c.11392+17C>A
|
|
|
NM_152564.5(VPS13B):c.11392+17C>G
|
rs775949318
|
|
NM_152564.5(VPS13B):c.11392+19C>T
|
rs2130963400
|
|
NM_152564.5(VPS13B):c.11392+1G>T
|
rs1554587021
|
|
NM_152564.5(VPS13B):c.11392+20A>G
|
|
|
NM_152564.5(VPS13B):c.11392+5G>C
|
|
|
NM_152564.5(VPS13B):c.11392+771C>A
|
|
|
NM_152564.5(VPS13B):c.11392+7C>A
|
|
|
NM_152564.5(VPS13B):c.11392+7C>T
|
|
|
NM_152564.5(VPS13B):c.11392+8G>T
|
rs147921058
|
|
NM_152564.5(VPS13B):c.11392G>A (p.Gly3798Ser)
|
|
|
NM_152564.5(VPS13B):c.11393-12C>G
|
|
|
NM_152564.5(VPS13B):c.11393-16A>C
|
|
|
NM_152564.5(VPS13B):c.11393-16_11393-13del
|
|
|
NM_152564.5(VPS13B):c.11393-1G>A
|
rs747363890
|
|
NM_152564.5(VPS13B):c.11393-1G>C
|
|
|
NM_152564.5(VPS13B):c.11393-20C>G
|
|
|
NM_152564.5(VPS13B):c.11393-6C>A
|
|
|
NM_152564.5(VPS13B):c.11394T>C (p.Gly3798=)
|
rs2130972325
|
|
NM_152564.5(VPS13B):c.11401C>T (p.His3801Tyr)
|
|
|
NM_152564.5(VPS13B):c.11403T>C (p.His3801=)
|
|
|
NM_152564.5(VPS13B):c.11409T>A (p.Ala3803=)
|
rs2130972371
|
|
NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs)
|
rs1588810676
|
|
NM_152564.5(VPS13B):c.11413_11414del (p.Leu3805fs)
|
|
|
NM_152564.5(VPS13B):c.11415T>G (p.Leu3805=)
|
rs2130972392
|
|
NM_152564.5(VPS13B):c.11416dup (p.Ser3806fs)
|
|
|
NM_152564.5(VPS13B):c.11418T>C (p.Ser3806=)
|
rs2130972408
|
|
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter)
|
rs2130972411
|
|
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs)
|
rs1588810695
|
|
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs)
|
rs386834062
|
|
NM_152564.5(VPS13B):c.11431C>T (p.Gln3811Ter)
|
|
|
NM_152564.5(VPS13B):c.11433G>A (p.Gln3811=)
|
rs1362645493
|
|
NM_152564.5(VPS13B):c.11436C>A (p.Arg3812=)
|
|
|
NM_152564.5(VPS13B):c.11437C>T (p.His3813Tyr)
|
|
|
NM_152564.5(VPS13B):c.11438_11450del (p.His3813fs)
|
rs2130972502
|
|
NM_152564.5(VPS13B):c.1143G>C (p.Gln381His)
|
rs2132516543
|
|
NM_152564.5(VPS13B):c.11453_11454insC (p.His3819fs)
|
|
|
NM_152564.5(VPS13B):c.11454A>G (p.Leu3818=)
|
rs2130972563
|
|
NM_152564.5(VPS13B):c.11461G>A (p.Asp3821Asn)
|
|
|
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs)
|
rs1057516284
|
|
NM_152564.5(VPS13B):c.11472A>G (p.Pro3824=)
|
rs2130972634
|
|
NM_152564.5(VPS13B):c.11473_11476del (p.Asn3825fs)
|
rs2130972632
|
|
NM_152564.5(VPS13B):c.11478C>T (p.Ser3826=)
|
|
|
NM_152564.5(VPS13B):c.11481T>G (p.His3827Gln)
|
rs2130972661
|
|
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs)
|
rs386834063
|
|
NM_152564.5(VPS13B):c.11484C>G (p.Val3828=)
|
rs370697316
|
|
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs)
|
rs386834064
|
|
NM_152564.5(VPS13B):c.11491_11493dup (p.Val3831dup)
|
rs1554588147
|
|
NM_152564.5(VPS13B):c.11492T>C (p.Val3831Ala)
|
rs1563519728
|
|
NM_152564.5(VPS13B):c.11493C>G (p.Val3831=)
|
|
|
NM_152564.5(VPS13B):c.11495+10T>A
|
|
|
NM_152564.5(VPS13B):c.11495+10_11495+11delinsAC
|
rs2130972826
|
|
NM_152564.5(VPS13B):c.11495+12G>C
|
|
|
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
|
|
|
NM_152564.5(VPS13B):c.11495+17A>G
|
rs2130972872
|
|
NM_152564.5(VPS13B):c.11495+1G>A
|
|
|
NM_152564.5(VPS13B):c.11495+3_11495+34dup
|
rs2130972756
|
|
NM_152564.5(VPS13B):c.11495+8T>C
|
rs942243380
|
|
NM_152564.5(VPS13B):c.11495+9_11495+11del
|
rs1817372505
|
|
NM_152564.5(VPS13B):c.11496-10T>C
|
rs2130975170
|
|
NM_152564.5(VPS13B):c.11496-12C>T
|
|
|
NM_152564.5(VPS13B):c.11496-14C>T
|
rs2130975155
|
|
NM_152564.5(VPS13B):c.11496-15T>A
|
|
|
NM_152564.5(VPS13B):c.11496-17T>G
|
|
|
NM_152564.5(VPS13B):c.11496-19C>T
|
|
|
NM_152564.5(VPS13B):c.11496-2A>G
|
rs1554588353
|
|
NM_152564.5(VPS13B):c.11496-3C>A
|
|
|
NM_152564.5(VPS13B):c.11496-6A>G
|
rs2130975190
|
|
NM_152564.5(VPS13B):c.11496-7dup
|
|
|
NM_152564.5(VPS13B):c.11496G>A (p.Trp3832Ter)
|
|
|
NM_152564.5(VPS13B):c.11506_11507del (p.Gln3836fs)
|
|
|
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter)
|
rs1554625838
|
|
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs)
|
rs1588811810
|
|
NM_152564.5(VPS13B):c.11514G>T (p.Leu3838=)
|
rs2130975250
|
|
NM_152564.5(VPS13B):c.11517C>T (p.Gly3839=)
|
rs1001918842
|
|
NM_152564.5(VPS13B):c.11521C>A (p.Pro3841Thr)
|
rs1817411525
|
|
NM_152564.5(VPS13B):c.11522C>T (p.Pro3841Leu)
|
rs752395430
|
|
NM_152564.5(VPS13B):c.11523A>C (p.Pro3841=)
|
|
|
NM_152564.5(VPS13B):c.11523del (p.Glu3842fs)
|
rs386834065
|
|
NM_152564.5(VPS13B):c.11524_11525del (p.Glu3842fs)
|
|
|
NM_152564.5(VPS13B):c.11526A>G (p.Glu3842=)
|
rs753590864
|
|
NM_152564.5(VPS13B):c.11527G>A (p.Val3843Ile)
|
rs943648620
|
|
NM_152564.5(VPS13B):c.11529C>T (p.Val3843=)
|
rs2130975340
|
|
NM_152564.5(VPS13B):c.11538C>T (p.Ala3846=)
|
|
|
NM_152564.5(VPS13B):c.11542G>A (p.Asp3848Asn)
|
rs558917637
|
|
NM_152564.5(VPS13B):c.11548G>T (p.Val3850Phe)
|
rs1817413381
|
|
NM_152564.5(VPS13B):c.11553G>A (p.Leu3851=)
|
|
|
NM_152564.5(VPS13B):c.11556G>A (p.Val3852=)
|
rs2130975423
|
|
NM_152564.5(VPS13B):c.11556G>T (p.Val3852=)
|
|
|
NM_152564.5(VPS13B):c.11571G>A (p.Gln3857=)
|
rs2130975458
|
|
NM_152564.5(VPS13B):c.11572G>A (p.Glu3858Lys)
|
rs910829293
|
|
NM_152564.5(VPS13B):c.11572G>C (p.Glu3858Gln)
|
rs910829293
|
|
NM_152564.5(VPS13B):c.11572_11574del (p.Glu3858del)
|
|
|
NM_152564.5(VPS13B):c.11574G>A (p.Glu3858=)
|
|
|
NM_152564.5(VPS13B):c.11575del (p.His3859fs)
|
rs1057516651
|
|
NM_152564.5(VPS13B):c.11580A>G (p.Glu3860=)
|
|
|
NM_152564.5(VPS13B):c.11583G>A (p.Gly3861=)
|
rs1458677528
|
|
NM_152564.5(VPS13B):c.11583G>T (p.Gly3861=)
|
|
|
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs)
|
rs1057517438
|
|
NM_152564.5(VPS13B):c.11586C>T (p.Cys3862=)
|
rs2130975528
|
|
NM_152564.5(VPS13B):c.11587T>C (p.Leu3863=)
|
|
|
NM_152564.5(VPS13B):c.11589G>A (p.Leu3863=)
|
rs1323646177
|
|
NM_152564.5(VPS13B):c.11599_11601dup (p.Ser3867_Glu3868insSer)
|
|
|
NM_152564.5(VPS13B):c.1159A>G (p.Ile387Val)
|
rs1170794758
|
|
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter)
|
rs1057517385
|
|
NM_152564.5(VPS13B):c.11600C>T (p.Ser3867Leu)
|
rs1057517385
|
|
NM_152564.5(VPS13B):c.11601A>C (p.Ser3867=)
|
|
|
NM_152564.5(VPS13B):c.11601A>G (p.Ser3867=)
|
rs2130975550
|
|
NM_152564.5(VPS13B):c.11602G>T (p.Glu3868Ter)
|
|
|
NM_152564.5(VPS13B):c.11607G>A (p.Val3869=)
|
|
|
NM_152564.5(VPS13B):c.11608C>G (p.Leu3870Val)
|
rs2130975573
|
|
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met)
|
rs574447837
|
|
NM_152564.5(VPS13B):c.11617G>C (p.Val3873Leu)
|
rs2130975617
|
|
NM_152564.5(VPS13B):c.11619G>A (p.Val3873=)
|
rs113454700
|
|
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs)
|
rs1554588477
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
NM_152564.5(VPS13B):c.11625_11628del (p.Ser3876fs)
|
rs2130975687
|
|
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs)
|
rs1554588489
|
|
NM_152564.5(VPS13B):c.11631G>A (p.Glu3877=)
|
|
|
NM_152564.5(VPS13B):c.11634C>T (p.Asp3878=)
|
|
|
NM_152564.5(VPS13B):c.11637A>G (p.Thr3879=)
|
rs895169322
|
|
NM_152564.5(VPS13B):c.11638C>G (p.Gln3880Glu)
|
rs147315245
|
|
NM_152564.5(VPS13B):c.11638C>T (p.Gln3880Ter)
|
|
|
NM_152564.5(VPS13B):c.11644C>G (p.Gln3882Glu)
|
|
|
NM_152564.5(VPS13B):c.11652C>G (p.Phe3884Leu)
|
|
|
NM_152564.5(VPS13B):c.11655C>G (p.Pro3885=)
|
rs368092348
|
|
NM_152564.5(VPS13B):c.11655del (p.Val3886fs)
|
rs1212294259
|
|
NM_152564.5(VPS13B):c.11658C>T (p.Val3886=)
|
rs2130975807
|
|
NM_152564.5(VPS13B):c.11659A>G (p.Thr3887Ala)
|
|
|
NM_152564.5(VPS13B):c.11660C>T (p.Thr3887Ile)
|
rs1817419149
|
|
NM_152564.5(VPS13B):c.11666T>C (p.Ile3889Thr)
|
rs778142738
|
|
NM_152564.5(VPS13B):c.1166C>A (p.Ser389Tyr)
|
rs2132516597
|
|
NM_152564.5(VPS13B):c.11673T>C (p.Cys3891=)
|
rs2130975878
|
|
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
|
|
NM_152564.5(VPS13B):c.11674G>A (p.Ala3892Thr)
|
rs2130975882
|
|
NM_152564.5(VPS13B):c.11679G>A (p.Gln3893=)
|
rs779149986
|
|
NM_152564.5(VPS13B):c.11679G>C (p.Gln3893His)
|
rs779149986
|
|
NM_152564.5(VPS13B):c.1167T>C (p.Ser389=)
|
|
|
NM_152564.5(VPS13B):c.11686A>G (p.Lys3896Glu)
|
|
|
NM_152564.5(VPS13B):c.11691G>A (p.Gln3897=)
|
rs371985144
|
|
NM_152564.5(VPS13B):c.11692AAC[1] (p.Asn3899del)
|
rs1462286408
|
|
NM_152564.5(VPS13B):c.11699_11702dup (p.Val3903fs)
|
rs1364947213
|
|
NM_152564.5(VPS13B):c.11702T>C (p.Leu3901Pro)
|
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11707G>A (p.Val3903Met)
|
rs144797111
|
|
NM_152564.5(VPS13B):c.11709G>A (p.Val3903=)
|
rs1206063860
|
|
NM_152564.5(VPS13B):c.11711A>G (p.Gln3904Arg)
|
rs1484708441
|
|
NM_152564.5(VPS13B):c.11721G>A (p.Gln3907=)
|
rs2130976100
|
|
NM_152564.5(VPS13B):c.11723C>G (p.Pro3908Arg)
|
rs750156428
|
|
NM_152564.5(VPS13B):c.11725dup (p.Arg3909fs)
|
rs2130976122
|
|
NM_152564.5(VPS13B):c.11727_11728del (p.Arg3909fs)
|
rs2130976129
|
|
NM_152564.5(VPS13B):c.11730G>T (p.Val3910=)
|
|
|
NM_152564.5(VPS13B):c.11733C>T (p.Ala3911=)
|
|
|
NM_152564.5(VPS13B):c.11739T>C (p.Asp3913=)
|
rs1308209423
|
|
NM_152564.5(VPS13B):c.1173A>T (p.Gly391=)
|
rs1160712344
|
|
NM_152564.5(VPS13B):c.11742G>A (p.Val3914=)
|
rs1032955226
|
|
NM_152564.5(VPS13B):c.11743G>A (p.Glu3915Lys)
|
|
|
NM_152564.5(VPS13B):c.11745+10A>G
|
|
|
NM_152564.5(VPS13B):c.11745+13A>G
|
|
|
NM_152564.5(VPS13B):c.11745+15del
|
rs1450725730
|
|
NM_152564.5(VPS13B):c.11745+17A>T
|
|
|
NM_152564.5(VPS13B):c.11745+18G>A
|
|
|
NM_152564.5(VPS13B):c.11745+19G>A
|
|
|
NM_152564.5(VPS13B):c.11745+8T>C
|
rs2130976234
|
|
NM_152564.5(VPS13B):c.11745G>A (p.Glu3915=)
|
|
|
NM_152564.5(VPS13B):c.11746-10_11746-3dup
|
|
|
NM_152564.5(VPS13B):c.11746-10dup
|
|
|
NM_152564.5(VPS13B):c.11746-15_11746-11dup
|
|
|
NM_152564.5(VPS13B):c.11746-15_11746-12dup
|
|
|
NM_152564.5(VPS13B):c.11746-18_11746-15dup
|
|
|
NM_152564.5(VPS13B):c.11746-3T>C
|
|
|
NM_152564.5(VPS13B):c.11746-7A>C
|
rs1817651650
|
|
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs)
|
rs1554590314
|
|
NM_152564.5(VPS13B):c.11750A>T (p.Asp3917Val)
|
rs754404502
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
NM_152564.5(VPS13B):c.11753G>A (p.Gly3918Glu)
|
rs2130990090
|
|
NM_152564.5(VPS13B):c.11755G>A (p.Val3919Ile)
|
rs2130990099
|
|
NM_152564.5(VPS13B):c.11759G>C (p.Arg3920Pro)
|
rs147907236
|
|
NM_152564.5(VPS13B):c.11769G>A (p.Leu3923=)
|
|
|
NM_152564.5(VPS13B):c.11769G>C (p.Leu3923=)
|
|
|
NM_152564.5(VPS13B):c.11774_11775del (p.Glu3925fs)
|
rs755827237
|
|
NM_152564.5(VPS13B):c.11775G>A (p.Glu3925=)
|
|
|
NM_152564.5(VPS13B):c.11776C>T (p.Gln3926Ter)
|
|
|
NM_152564.5(VPS13B):c.11778A>G (p.Gln3926=)
|
|
|
NM_152564.5(VPS13B):c.11781G>C (p.Gln3927His)
|
rs1817654141
|
|
NM_152564.5(VPS13B):c.11783ACA[1] (p.Asn3929del)
|
rs1554590369
|
|
NM_152564.5(VPS13B):c.11787C>G (p.Asn3929Lys)
|
|
|
NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser)
|
|
|
NM_152564.5(VPS13B):c.11793G>A (p.Leu3931=)
|
|
|
NM_152564.5(VPS13B):c.11794G>A (p.Val3932Met)
|
rs2130990241
|
|
NM_152564.5(VPS13B):c.117G>A (p.Lys39=)
|
|
|
NM_152564.5(VPS13B):c.11804_11808dup (p.Lys3937fs)
|
rs1263684271
|
|
NM_152564.5(VPS13B):c.11805C>T (p.Ile3935=)
|
|
|
NM_152564.5(VPS13B):c.11809A>G (p.Lys3937Glu)
|
|
|
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs)
|
rs1371736348
|
|
NM_152564.5(VPS13B):c.11809_11812dup (p.Thr3938fs)
|
|
|
NM_152564.5(VPS13B):c.11810del (p.Lys3937fs)
|
rs1371736348
|
|
NM_152564.5(VPS13B):c.11813C>A (p.Thr3938Lys)
|
|
|
NM_152564.5(VPS13B):c.11814_11816del (p.Ser3939del)
|
rs1236948038
|
|
NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup)
|
rs1236948038
|
|
NM_152564.5(VPS13B):c.11815T>A (p.Ser3939Thr)
|
|
|
NM_152564.5(VPS13B):c.11815_11822del (p.Ser3939fs)
|
|
|
NM_152564.5(VPS13B):c.11823C>T (p.His3941=)
|
|
|
NM_152564.5(VPS13B):c.11829C>T (p.Ala3943=)
|
|
|
NM_152564.5(VPS13B):c.11831C>A (p.Pro3944His)
|
rs1010334738
|
|
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)
|
rs386834069
|
|
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)
|
rs786204456
|
|
NM_152564.5(VPS13B):c.11832del (p.Ser3945fs)
|
|
|
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs)
|
rs180177374
|
|
NM_152564.5(VPS13B):c.11834G>A (p.Ser3945Asn)
|
rs1209045692
|
|
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter)
|
rs773094891
|
|
NM_152564.5(VPS13B):c.11838TTC[1] (p.Ser3948del)
|
rs1554590420
|
|
NM_152564.5(VPS13B):c.11839_11842dup (p.Ser3948fs)
|
rs1817657601
|
|
NM_152564.5(VPS13B):c.11841T>G (p.Ser3947=)
|
rs1257015556
|
|
NM_152564.5(VPS13B):c.11845A>G (p.Met3949Val)
|
rs1227148786
|
|
NM_152564.5(VPS13B):c.11846_11875del (p.Met3949_Glu3959delinsLys)
|
|
|
NM_152564.5(VPS13B):c.11850A>C (p.Gln3950His)
|
|
|
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs)
|
rs1554590433
|
|
NM_152564.5(VPS13B):c.11855C>G (p.Pro3952Arg)
|
|
|
NM_152564.5(VPS13B):c.11857T>G (p.Cys3953Gly)
|
|
|
NM_152564.5(VPS13B):c.11858G>A (p.Cys3953Tyr)
|
|
|
NM_152564.5(VPS13B):c.11859C>T (p.Cys3953=)
|
|
|
NM_152564.5(VPS13B):c.11860C>T (p.Pro3954Ser)
|
rs2130990501
|
|
NM_152564.5(VPS13B):c.11862T>A (p.Pro3954=)
|
|
|
NM_152564.5(VPS13B):c.11862T>G (p.Pro3954=)
|
|
|
NM_152564.5(VPS13B):c.11863G>A (p.Val3955Met)
|
|
|
NM_152564.5(VPS13B):c.11876A>T (p.Glu3959Val)
|
rs2130990524
|
|
NM_152564.5(VPS13B):c.1187del (p.Lys396fs)
|
rs1554625872
|
|
NM_152564.5(VPS13B):c.11880T>C (p.Pro3960=)
|
|
|
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs)
|
rs1057517328
|
|
NM_152564.5(VPS13B):c.11881C>G (p.Pro3961Ala)
|
rs762256695
|
|
NM_152564.5(VPS13B):c.11881C>T (p.Pro3961Ser)
|
|
|
NM_152564.5(VPS13B):c.11882C>T (p.Pro3961Leu)
|
rs765761643
|
|
NM_152564.5(VPS13B):c.11885C>A (p.Pro3962His)
|
rs531619892
|
|
NM_152564.5(VPS13B):c.11886C>G (p.Pro3962=)
|
|
|
NM_152564.5(VPS13B):c.11886dup (p.Ser3963fs)
|
|
|
NM_152564.5(VPS13B):c.11889C>T (p.Ser3963=)
|
|
|
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer)
|
rs1554590486
|
|
NM_152564.5(VPS13B):c.11894_11895dup (p.Lys3966fs)
|
|
|
NM_152564.5(VPS13B):c.11895T>A (p.Val3965=)
|
rs1014579158
|
|
NM_152564.5(VPS13B):c.11895T>C (p.Val3965=)
|
rs1014579158
|
|
NM_152564.5(VPS13B):c.11898_11901dup (p.Tyr3968fs)
|
|
|
NM_152564.5(VPS13B):c.11899dup (p.Thr3967fs)
|
rs1554590501
|
|
NM_152564.5(VPS13B):c.1189G>T (p.Ala397Ser)
|
|
|
NM_152564.5(VPS13B):c.11901_11904dup (p.His3969fs)
|
rs1554590506
|
|
NM_152564.5(VPS13B):c.11906_11911dup (p.His3969_Tyr3970dup)
|
rs1554590515
|
|
NM_152564.5(VPS13B):c.11907_11908insG (p.Tyr3970fs)
|
rs1554590537
|
|
NM_152564.5(VPS13B):c.11911C>T (p.Leu3971=)
|
rs2130990707
|
|
NM_152564.5(VPS13B):c.11912T>C (p.Leu3971Pro)
|
rs2130990713
|
|
NM_152564.5(VPS13B):c.11917_11919dup (p.Asp3973dup)
|
rs1554590552
|
|
NM_152564.5(VPS13B):c.11929G>A (p.Ala3977Thr)
|
rs2130990784
|
|
NM_152564.5(VPS13B):c.11929G>T (p.Ala3977Ser)
|
rs2130990784
|
|
NM_152564.5(VPS13B):c.11932C>T (p.Gln3978Ter)
|
rs2130990800
|
|
NM_152564.5(VPS13B):c.11934G>C (p.Gln3978His)
|
rs1012733827
|
|
NM_152564.5(VPS13B):c.11941C>T (p.Leu3981Phe)
|
|
|
NM_152564.5(VPS13B):c.11944A>C (p.Ser3982Arg)
|
|
|
NM_152564.5(VPS13B):c.11945G>A (p.Ser3982Asn)
|
rs1370500777
|
|
NM_152564.5(VPS13B):c.11947A>G (p.Lys3983Glu)
|
|
|
NM_152564.5(VPS13B):c.1194G>A (p.Thr398=)
|
|
|
NM_152564.5(VPS13B):c.11955C>T (p.Thr3985=)
|
|
|
NM_152564.5(VPS13B):c.11956del (p.Met3986fs)
|
|
|
NM_152564.5(VPS13B):c.11957T>A (p.Met3986Lys)
|
|
|
NM_152564.5(VPS13B):c.11958G>A (p.Met3986Ile)
|
rs774937754
|
|
NM_152564.5(VPS13B):c.11959G>C (p.Val3987Leu)
|
rs760214378
|
|
NM_152564.5(VPS13B):c.11964_11984dup (p.Asn3989_Gly3995dup)
|
rs1554590631
|
|
NM_152564.5(VPS13B):c.11965_11966dup (p.Asn3989fs)
|
rs1554590620
|
|
NM_152564.5(VPS13B):c.11967_11968dup (p.Lys3990fs)
|
rs1554590636
|
|
NM_152564.5(VPS13B):c.11967_11969dup (p.Asn3989_Lys3990insAsn)
|
|
|
NM_152564.5(VPS13B):c.11967_11970del (p.Asn3989fs)
|
|
|
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter)
|
rs769983613
|
|
NM_152564.5(VPS13B):c.11970dup (p.Ala3991fs)
|
|
|
NM_152564.5(VPS13B):c.11976G>A (p.Leu3992=)
|
rs2130990950
|
|
NM_152564.5(VPS13B):c.11979G>A (p.Arg3993=)
|
|
|
NM_152564.5(VPS13B):c.11982A>G (p.Lys3994=)
|
|
|
NM_152564.5(VPS13B):c.11983G>A (p.Gly3995Arg)
|
|
|
NM_152564.5(VPS13B):c.11985G>T (p.Gly3995=)
|
|
|
NM_152564.5(VPS13B):c.1198A>G (p.Thr400Ala)
|
|
|
NM_152564.5(VPS13B):c.11991T>C (p.Pro3997=)
|
|
|
NM_152564.5(VPS13B):c.11993_*2dup (p.Ter3998=)
|
rs764705493
|
|
NM_152564.5(VPS13B):c.11994A>C (p.Ter3998Cys)
|
|
|
NM_152564.5(VPS13B):c.1203C>T (p.Phe401=)
|
|
|
NM_152564.5(VPS13B):c.1206+11T>G
|
|
|
NM_152564.5(VPS13B):c.1206+12C>T
|
|
|
NM_152564.5(VPS13B):c.1206+17G>A
|
|
|
NM_152564.5(VPS13B):c.1206+19_1206+34del
|
rs750619814
|
|
NM_152564.5(VPS13B):c.1206+20G>A
|
rs2132516774
|
|
NM_152564.5(VPS13B):c.1206+20G>T
|
|
|
NM_152564.5(VPS13B):c.1206+40T>C
|
rs1554625938
|
|
NM_152564.5(VPS13B):c.1206+7C>G
|
|
|
NM_152564.5(VPS13B):c.1206+8T>G
|
rs889247005
|
|
NM_152564.5(VPS13B):c.1207-10T>A
|
rs1293563176
|
|
NM_152564.5(VPS13B):c.1207-15T>G
|
|
|
NM_152564.5(VPS13B):c.1207-19A>G
|
|
|
NM_152564.5(VPS13B):c.1207-5del
|
rs2132553921
|
|
NM_152564.5(VPS13B):c.1207-9A>G
|
rs2132553905
|
|
NM_152564.5(VPS13B):c.120C>A (p.Leu40=)
|
rs1217032484
|
|
NM_152564.5(VPS13B):c.120C>G (p.Leu40=)
|
|
|
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)
|
rs386834070
|
|
NM_152564.5(VPS13B):c.121G>C (p.Glu41Gln)
|
|
|
NM_152564.5(VPS13B):c.1221A>T (p.Gln407His)
|
rs1269344604
|
|
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter)
|
rs386834071
|
|
NM_152564.5(VPS13B):c.1227G>A (p.Glu409=)
|
|
|
NM_152564.5(VPS13B):c.1234T>A (p.Tyr412Asn)
|
rs1809977101
|
|
NM_152564.5(VPS13B):c.1236T>C (p.Tyr412=)
|
rs1355692148
|
|
NM_152564.5(VPS13B):c.123G>A (p.Glu41=)
|
|
|
NM_152564.5(VPS13B):c.1244C>T (p.Pro415Leu)
|
|
|
NM_152564.5(VPS13B):c.1245A>G (p.Pro415=)
|
rs2132554032
|
|
NM_152564.5(VPS13B):c.1246C>T (p.Gln416Ter)
|
rs1809977682
|
|
NM_152564.5(VPS13B):c.1248G>A (p.Gln416=)
|
|
|
NM_152564.5(VPS13B):c.1260T>C (p.Ser420=)
|
|
|
NM_152564.5(VPS13B):c.1260T>G (p.Ser420=)
|
rs1809978399
|
|
NM_152564.5(VPS13B):c.1261A>T (p.Lys421Ter)
|
|
|
NM_152564.5(VPS13B):c.1261_1272del (p.Lys421_Leu424del)
|
rs1554633843
|
|
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter)
|
|
|
NM_152564.5(VPS13B):c.1269A>G (p.Val423=)
|
|
|
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs)
|
rs386834072
|
|
NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter)
|
|
|
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter)
|
|
|
NM_152564.5(VPS13B):c.127A>C (p.Lys43Gln)
|
|
|
NM_152564.5(VPS13B):c.1281A>G (p.Glu427=)
|
rs370660111
|
|
NM_152564.5(VPS13B):c.1291A>G (p.Thr431Ala)
|
|
|
NM_152564.5(VPS13B):c.1293T>A (p.Thr431=)
|
rs77759532
|
|
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=)
|
rs77759532
|
|
NM_152564.5(VPS13B):c.1294A>G (p.Thr432Ala)
|
rs1809982356
|
|
NM_152564.5(VPS13B):c.1302+10C>T
|
|
|
NM_152564.5(VPS13B):c.1302+11A>T
|
|
|
NM_152564.5(VPS13B):c.1302+17G>A
|
|
|
NM_152564.5(VPS13B):c.1302+19A>T
|
|
|
NM_152564.5(VPS13B):c.1302+6C>G
|
|
|
NM_152564.5(VPS13B):c.1303-19G>A
|
|
|
NM_152564.5(VPS13B):c.1303-19G>T
|
|
|
NM_152564.5(VPS13B):c.1303-1G>C
|
rs1554634091
|
|
NM_152564.5(VPS13B):c.1303-20T>C
|
|
|
NM_152564.5(VPS13B):c.1303-3T>C
|
rs1464515241
|
|
NM_152564.5(VPS13B):c.1303-4A>T
|
|
|
NM_152564.5(VPS13B):c.1303-9G>C
|
rs370251445
|
|
NM_152564.5(VPS13B):c.1305C>A (p.Ala435=)
|
|
|
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer)
|
rs1408744761
|
|
NM_152564.5(VPS13B):c.1309A>G (p.Met437Val)
|
|
|
NM_152564.5(VPS13B):c.1310T>C (p.Met437Thr)
|
|
|
NM_152564.5(VPS13B):c.1318G>A (p.Glu440Lys)
|
rs1320106244
|
|
NM_152564.5(VPS13B):c.1318G>T (p.Glu440Ter)
|
|
|
NM_152564.5(VPS13B):c.1321C>T (p.Pro441Ser)
|
rs1563560482
|
|
NM_152564.5(VPS13B):c.1323T>C (p.Pro441=)
|
rs2132555095
|
|
NM_152564.5(VPS13B):c.1324T>G (p.Phe442Val)
|
|
|
NM_152564.5(VPS13B):c.1334_1335delinsTT (p.Cys445Phe)
|
rs1563560499
|
|
NM_152564.5(VPS13B):c.1335C>T (p.Cys445=)
|
|
|
NM_152564.5(VPS13B):c.133G>A (p.Asp45Asn)
|
rs761491720
|
|
NM_152564.5(VPS13B):c.133G>T (p.Asp45Tyr)
|
|
|
NM_152564.5(VPS13B):c.1343G>A (p.Gly448Glu)
|
|
|
NM_152564.5(VPS13B):c.1347T>C (p.Phe449=)
|
rs2132555166
|
|
NM_152564.5(VPS13B):c.1366del (p.Cys456fs)
|
rs2132555225
|
|
NM_152564.5(VPS13B):c.1368C>T (p.Cys456=)
|
rs2132555233
|
|
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=)
|
rs1810005490
|
|
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu)
|
rs1810005848
|
|
NM_152564.5(VPS13B):c.1378del (p.Ile460fs)
|
rs1810006084
|
|
NM_152564.5(VPS13B):c.1386T>C (p.Gly462=)
|
|
|
NM_152564.5(VPS13B):c.138G>A (p.Val46=)
|
rs1841451847
|
|
NM_152564.5(VPS13B):c.1396T>C (p.Phe466Leu)
|
rs2132555298
|
|
NM_152564.5(VPS13B):c.139C>T (p.Leu47=)
|
rs2132125682
|
|
NM_152564.5(VPS13B):c.1406A>G (p.Asn469Ser)
|
rs1810007051
|
|
NM_152564.5(VPS13B):c.1406del (p.Asn469fs)
|
|
|
NM_152564.5(VPS13B):c.1412A>G (p.Asn471Ser)
|
|
|
NM_152564.5(VPS13B):c.1418del (p.Ser473fs)
|
|
|
NM_152564.5(VPS13B):c.141G>C (p.Leu47=)
|
rs1841451940
|
|
NM_152564.5(VPS13B):c.1424C>T (p.Thr475Ile)
|
rs765774825
|
|
NM_152564.5(VPS13B):c.1425+17C>T
|
|
|
NM_152564.5(VPS13B):c.1425+18A>G
|
|
|
NM_152564.5(VPS13B):c.1425+7C>G
|
|
|
NM_152564.5(VPS13B):c.1425+9G>T
|
rs551460373
|
|
NM_152564.5(VPS13B):c.1426-12A>T
|
|
|
NM_152564.5(VPS13B):c.1426-14G>A
|
|
|
NM_152564.5(VPS13B):c.1426-8del
|
rs2132556521
|
|
NM_152564.5(VPS13B):c.142G>T (p.Glu48Ter)
|
|
|
NM_152564.5(VPS13B):c.1431C>G (p.Ala477=)
|
|
|
NM_152564.5(VPS13B):c.1436dup (p.Phe480fs)
|
|
|
NM_152564.5(VPS13B):c.1440C>A (p.Phe480Leu)
|
|
|
NM_152564.5(VPS13B):c.1442T>C (p.Ile481Thr)
|
|
|
NM_152564.5(VPS13B):c.1449T>C (p.Gly483=)
|
rs2132556560
|
|
NM_152564.5(VPS13B):c.1452C>T (p.Asp484=)
|
rs2132556577
|
|
NM_152564.5(VPS13B):c.1456T>C (p.Leu486=)
|
rs879308072
|
|
NM_152564.5(VPS13B):c.145C>T (p.Gln49Ter)
|
rs2132125704
|
|
NM_152564.5(VPS13B):c.1469G>A (p.Gly490Asp)
|
rs761218548
|
|
NM_152564.5(VPS13B):c.1469G>C (p.Gly490Ala)
|
rs761218548
|
|
NM_152564.5(VPS13B):c.147+13_147+22del
|
|
|
NM_152564.5(VPS13B):c.147+18C>A
|
|
|
NM_152564.5(VPS13B):c.147+19A>C
|
|
|
NM_152564.5(VPS13B):c.147+19_147+20del
|
|
|
NM_152564.5(VPS13B):c.147+8_147+15del
|
rs1587912564
|
|
NM_152564.5(VPS13B):c.1470T>A (p.Gly490=)
|
rs2132556626
|
|
NM_152564.5(VPS13B):c.1479C>A (p.Tyr493Ter)
|
|
|
NM_152564.5(VPS13B):c.1479C>T (p.Tyr493=)
|
rs751986362
|
|
NM_152564.5(VPS13B):c.148-10G>T
|
|
|
NM_152564.5(VPS13B):c.148-11del
|
|
|
NM_152564.5(VPS13B):c.148-17A>G
|
rs2132221851
|
|
NM_152564.5(VPS13B):c.148-2A>G
|
rs768406797
|
|
NM_152564.5(VPS13B):c.148-5T>C
|
|
|
NM_152564.5(VPS13B):c.1482del (p.Thr495fs)
|
rs2132556658
|
|
NM_152564.5(VPS13B):c.1483dup (p.Thr495fs)
|
|
|
NM_152564.5(VPS13B):c.1484C>A (p.Thr495Lys)
|
|
|
NM_152564.5(VPS13B):c.1491A>C (p.Ser497=)
|
rs374276141
|
|
NM_152564.5(VPS13B):c.1491A>G (p.Ser497=)
|
rs374276141
|
|
NM_152564.5(VPS13B):c.1492T>C (p.Leu498=)
|
|
|
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs)
|
rs1057517319
|
|
NM_152564.5(VPS13B):c.150A>G (p.Glu50=)
|
rs2132221924
|
|
NM_152564.5(VPS13B):c.1516A>T (p.Asn506Tyr)
|
|
|
NM_152564.5(VPS13B):c.1527T>C (p.Thr509=)
|
rs778708757
|
|
NM_152564.5(VPS13B):c.1527del (p.Arg510fs)
|
rs2132556766
|
|
NM_152564.5(VPS13B):c.1528C>A (p.Arg510Ser)
|
rs139141291
|
|
NM_152564.5(VPS13B):c.1528C>G (p.Arg510Gly)
|
rs139141291
|
|
NM_152564.5(VPS13B):c.1533A>G (p.Ala511=)
|
rs2132556812
|
|
NM_152564.5(VPS13B):c.154A>T (p.Lys52Ter)
|
|
|
NM_152564.5(VPS13B):c.1554T>C (p.Thr518=)
|
|
|
NM_152564.5(VPS13B):c.1554T>G (p.Thr518=)
|
|
|
NM_152564.5(VPS13B):c.1563+10T>A
|
|
|
NM_152564.5(VPS13B):c.1563+13A>G
|
|
|
NM_152564.5(VPS13B):c.1563+14T>A
|
|
|
NM_152564.5(VPS13B):c.1563+14T>C
|
|
|
NM_152564.5(VPS13B):c.1563+15A>G
|
|
|
NM_152564.5(VPS13B):c.1563+1G>A
|
rs1057516923
|
|
NM_152564.5(VPS13B):c.1563+1G>T
|
rs1057516923
|
|
NM_152564.5(VPS13B):c.1563+9A>T
|
|
|
NM_152564.5(VPS13B):c.1563+9del
|
|
|
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=)
|
rs180177355
|
|
NM_152564.5(VPS13B):c.1564-4G>A
|
|
|
NM_152564.5(VPS13B):c.1564-5G>T
|
rs2132559204
|
|
NM_152564.5(VPS13B):c.1564-6T>C
|
rs2132559193
|
|
NM_152564.5(VPS13B):c.1564-7T>C
|
|
|
NM_152564.5(VPS13B):c.1564-8G>T
|
rs2132559174
|
|
NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter)
|
|
|
NM_152564.5(VPS13B):c.1569A>G (p.Thr523=)
|
rs797046094
|
|
NM_152564.5(VPS13B):c.1572C>T (p.Tyr524=)
|
rs2132559241
|
|
NM_152564.5(VPS13B):c.1574C>G (p.Thr525Ser)
|
rs2132559245
|
|
NM_152564.5(VPS13B):c.1575T>C (p.Thr525=)
|
rs1810085883
|
|
NM_152564.5(VPS13B):c.1580T>C (p.Ile527Thr)
|
rs1810086193
|
|
NM_152564.5(VPS13B):c.1580T>G (p.Ile527Arg)
|
rs1810086193
|
|
NM_152564.5(VPS13B):c.1584T>C (p.Ala528=)
|
rs2132559289
|
|
NM_152564.5(VPS13B):c.1595G>T (p.Arg532Leu)
|
|
|
NM_152564.5(VPS13B):c.1596G>T (p.Arg532=)
|
|
|
NM_152564.5(VPS13B):c.1602G>A (p.Gly534=)
|
rs1266552493
|
|
NM_152564.5(VPS13B):c.1604del (p.Ala535fs)
|
rs1810088202
|
|
NM_152564.5(VPS13B):c.160C>T (p.Pro54Ser)
|
rs1193369148
|
|
NM_152564.5(VPS13B):c.161C>T (p.Pro54Leu)
|
rs1253965070
|
|
NM_152564.5(VPS13B):c.1623G>A (p.Leu541=)
|
rs1193051483
|
|
NM_152564.5(VPS13B):c.1626T>C (p.Tyr542=)
|
|
|
NM_152564.5(VPS13B):c.1628C>A (p.Thr543Lys)
|
|
|
NM_152564.5(VPS13B):c.1639A>T (p.Thr547Ser)
|
rs142971568
|
|
NM_152564.5(VPS13B):c.163_166del (p.Phe55fs)
|
|
|
NM_152564.5(VPS13B):c.1646G>T (p.Gly549Val)
|
|
|
NM_152564.5(VPS13B):c.1651+14T>C
|
|
|
NM_152564.5(VPS13B):c.1651+3A>G
|
|
|
NM_152564.5(VPS13B):c.1651+5del
|
rs779435450
|
|
NM_152564.5(VPS13B):c.1651+8C>T
|
rs2132559576
|
|
NM_152564.5(VPS13B):c.1651+9T>A
|
rs2132559589
|
|
NM_152564.5(VPS13B):c.1651G>A (p.Gly551Ser)
|
rs1346704740
|
|
NM_152564.5(VPS13B):c.1651G>T (p.Gly551Cys)
|
rs1346704740
|
|
NM_152564.5(VPS13B):c.1652-12G>C
|
|
|
NM_152564.5(VPS13B):c.1652-19A>G
|
|
|
NM_152564.5(VPS13B):c.1652-2A>T
|
rs2132580903
|
|
NM_152564.5(VPS13B):c.1652-5T>G
|
|
|
NM_152564.5(VPS13B):c.1652-7C>A
|
rs2132580880
|
|
NM_152564.5(VPS13B):c.1652-7del
|
rs757852076
|
|
NM_152564.5(VPS13B):c.1652-8T>G
|
rs2132580871
|
|
NM_152564.5(VPS13B):c.1653T>C (p.Gly551=)
|
|
|
NM_152564.5(VPS13B):c.1656C>A (p.Ser552=)
|
rs766281883
|
|
NM_152564.5(VPS13B):c.1657A>G (p.Thr553Ala)
|
rs2132580942
|
|
NM_152564.5(VPS13B):c.1659A>T (p.Thr553=)
|
|
|
NM_152564.5(VPS13B):c.1662T>C (p.Asn554=)
|
|
|
NM_152564.5(VPS13B):c.1664A>C (p.Gln555Pro)
|
rs2132580980
|
|
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs)
|
rs1057517177
|
|
NM_152564.5(VPS13B):c.1665A>G (p.Gln555=)
|
rs1459744373
|
|
NM_152564.5(VPS13B):c.1666C>G (p.Gln556Glu)
|
rs1554639027
|
|
NM_152564.5(VPS13B):c.1669del (p.Asp557fs)
|
rs1057517283
|
|
NM_152564.5(VPS13B):c.1680A>G (p.Ser560=)
|
|
|
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=)
|
|
|
NM_152564.5(VPS13B):c.1704A>T (p.Thr568=)
|
rs190009435
|
|
NM_152564.5(VPS13B):c.1711_1713del (p.Glu571del)
|
|
|
NM_152564.5(VPS13B):c.1712A>G (p.Glu571Gly)
|
|
|
NM_152564.5(VPS13B):c.1713G>A (p.Glu571=)
|
rs753346782
|
|
NM_152564.5(VPS13B):c.171T>C (p.Phe57=)
|
rs2132221990
|
|
NM_152564.5(VPS13B):c.1721C>G (p.Thr574Ser)
|
rs2132581141
|
|
NM_152564.5(VPS13B):c.1721C>T (p.Thr574Ile)
|
|
|
NM_152564.5(VPS13B):c.1726A>G (p.Ser576Gly)
|
rs2132581169
|
|
NM_152564.5(VPS13B):c.1727G>C (p.Ser576Thr)
|
rs2132581178
|
|
NM_152564.5(VPS13B):c.1732del (p.Val578fs)
|
rs2132581182
|
|
NM_152564.5(VPS13B):c.1739G>A (p.Gly580Asp)
|
|
|
NM_152564.5(VPS13B):c.173T>C (p.Leu58Ser)
|
rs2132221998
|
|
NM_152564.5(VPS13B):c.174A>T (p.Leu58Phe)
|
rs2132222005
|
|
NM_152564.5(VPS13B):c.1752T>C (p.Phe584=)
|
|
|
NM_152564.5(VPS13B):c.1755T>C (p.Arg585=)
|
rs762989966
|
|
NM_152564.5(VPS13B):c.1755_1759dup (p.Asp587fs)
|
rs1810518393
|
|
NM_152564.5(VPS13B):c.1757T>A (p.Leu586Ter)
|
rs2132581276
|
|
NM_152564.5(VPS13B):c.1761T>C (p.Asp587=)
|
|
|
NM_152564.5(VPS13B):c.1762del (p.Ser588fs)
|
rs2132581325
|
|
NM_152564.5(VPS13B):c.1764C>T (p.Ser588=)
|
rs2132581334
|
|
NM_152564.5(VPS13B):c.1769C>A (p.Ala590Glu)
|
rs182397346
|
|
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val)
|
rs182397346
|
|
NM_152564.5(VPS13B):c.1771G>C (p.Val591Leu)
|
|
|
NM_152564.5(VPS13B):c.1773G>A (p.Val591=)
|
|
|
NM_152564.5(VPS13B):c.1774C>T (p.His592Tyr)
|
rs1588083628
|
|
NM_152564.5(VPS13B):c.178G>T (p.Gly60Ter)
|
|
|
NM_152564.5(VPS13B):c.1814A>C (p.Glu605Ala)
|
rs2132581468
|
|
NM_152564.5(VPS13B):c.1819G>T (p.Glu607Ter)
|
|
|
NM_152564.5(VPS13B):c.1823C>T (p.Pro608Leu)
|
rs2132581494
|
|
NM_152564.5(VPS13B):c.1826A>T (p.Tyr609Phe)
|
|
|
NM_152564.5(VPS13B):c.1830C>T (p.Ser610=)
|
|
|
NM_152564.5(VPS13B):c.1831A>C (p.Arg611=)
|
rs2132581522
|
|
NM_152564.5(VPS13B):c.1843+10T>G
|
rs371154826
|
|
NM_152564.5(VPS13B):c.1843+13A>G
|
|
|
NM_152564.5(VPS13B):c.1843+17A>G
|
|
|
NM_152564.5(VPS13B):c.1843+1G>A
|
|
|
NM_152564.5(VPS13B):c.1843G>T (p.Asp615Tyr)
|
rs1810522684
|
|
NM_152564.5(VPS13B):c.1844-11T>C
|
|
|
NM_152564.5(VPS13B):c.1844-12T>A
|
|
|
NM_152564.5(VPS13B):c.1844-14C>G
|
rs756456382
|
|
NM_152564.5(VPS13B):c.1844-14C>T
|
|
|
NM_152564.5(VPS13B):c.1844-15T>A
|
|
|
NM_152564.5(VPS13B):c.1844-16A>G
|
|
|
NM_152564.5(VPS13B):c.1844-18T>C
|
|
|
NM_152564.5(VPS13B):c.1844-2A>G
|
rs386834073
|
|
NM_152564.5(VPS13B):c.1844-6T>G
|
|
|
NM_152564.5(VPS13B):c.1844-8A>C
|
rs2132596591
|
|
NM_152564.5(VPS13B):c.1844-8_1844-4del
|
rs745701200
|
|
NM_152564.5(VPS13B):c.1845T>C (p.Asp615=)
|
|
|
NM_152564.5(VPS13B):c.1849A>G (p.Lys617Glu)
|
rs1810824609
|
|
NM_152564.5(VPS13B):c.1854T>A (p.Asp618Glu)
|
|
|
NM_152564.5(VPS13B):c.1869A>G (p.Ile623Met)
|
rs1432601796
|
|
NM_152564.5(VPS13B):c.1869A>T (p.Ile623=)
|
rs1432601796
|
|
NM_152564.5(VPS13B):c.186T>C (p.Ile62=)
|
|
|
NM_152564.5(VPS13B):c.186T>G (p.Ile62Met)
|
rs2132222016
|
|
NM_152564.5(VPS13B):c.1871T>G (p.Leu624Arg)
|
|
|
NM_152564.5(VPS13B):c.1875T>C (p.Asn625=)
|
|
|
NM_152564.5(VPS13B):c.1876C>A (p.Pro626Thr)
|
rs1027919525
|
|
NM_152564.5(VPS13B):c.1885G>C (p.Val629Leu)
|
|
|
NM_152564.5(VPS13B):c.1887G>C (p.Val629=)
|
rs138291421
|
|
NM_152564.5(VPS13B):c.1890T>C (p.Ala630=)
|
|
|
NM_152564.5(VPS13B):c.1891C>A (p.Leu631Ile)
|
|
|
NM_152564.5(VPS13B):c.1894C>G (p.Leu632Val)
|
|
|
NM_152564.5(VPS13B):c.18A>C (p.Val6=)
|
rs1490457051
|
|
NM_152564.5(VPS13B):c.18A>G (p.Val6=)
|
rs1490457051
|
|
NM_152564.5(VPS13B):c.18A>T (p.Val6=)
|
|
|
NM_152564.5(VPS13B):c.1906A>G (p.Ile636Val)
|
rs2132596795
|
|
NM_152564.5(VPS13B):c.1911T>C (p.Pro637=)
|
|
|
NM_152564.5(VPS13B):c.1916G>A (p.Arg639Gln)
|
rs772958839
|
|
NM_152564.5(VPS13B):c.192A>G (p.Glu64=)
|
|
|
NM_152564.5(VPS13B):c.1932T>G (p.Thr644=)
|
|
|
NM_152564.5(VPS13B):c.1934T>A (p.Leu645His)
|
|
|
NM_152564.5(VPS13B):c.1935C>T (p.Leu645=)
|
|
|
NM_152564.5(VPS13B):c.1938C>T (p.Leu646=)
|
rs2132596935
|
|
NM_152564.5(VPS13B):c.193T>C (p.Leu65=)
|
rs2132222030
|
|
NM_152564.5(VPS13B):c.1943G>A (p.Cys648Tyr)
|
rs960819243
|
|
NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter)
|
|
|
NM_152564.5(VPS13B):c.1944T>C (p.Cys648=)
|
rs988245745
|
|
NM_152564.5(VPS13B):c.1947C>G (p.Thr649=)
|
|
|
NM_152564.5(VPS13B):c.1953A>T (p.Thr651=)
|
rs756544361
|
|
NM_152564.5(VPS13B):c.1954A>G (p.Ile652Val)
|
rs886062537
|
|
NM_152564.5(VPS13B):c.1959C>G (p.Ser653=)
|
rs2132597068
|
|
NM_152564.5(VPS13B):c.1969T>C (p.Phe657Leu)
|
|
|
NM_152564.5(VPS13B):c.1972A>T (p.Asn658Tyr)
|
rs2132597122
|
|
NM_152564.5(VPS13B):c.1974C>T (p.Asn658=)
|
rs1810832465
|
|
NM_152564.5(VPS13B):c.1975T>C (p.Leu659=)
|
rs754099212
|
|
NM_152564.5(VPS13B):c.1978C>T (p.Leu660=)
|
|
|
NM_152564.5(VPS13B):c.1989A>G (p.Leu663=)
|
|
|
NM_152564.5(VPS13B):c.1990C>T (p.Leu664=)
|
|
|
NM_152564.5(VPS13B):c.1992A>C (p.Leu664=)
|
rs758566685
|
|
NM_152564.5(VPS13B):c.1995T>C (p.Pro665=)
|
|
|
NM_152564.5(VPS13B):c.1996_2006del (p.Val666fs)
|
|
|
NM_152564.5(VPS13B):c.1A>T (p.Met1Leu)
|
|
|
NM_152564.5(VPS13B):c.2001T>A (p.Ile667=)
|
rs747119024
|
|
NM_152564.5(VPS13B):c.2004G>A (p.Met668Ile)
|
|
|
NM_152564.5(VPS13B):c.2007A>C (p.Gly669=)
|
|
|
NM_152564.5(VPS13B):c.2007A>T (p.Gly669=)
|
rs1242797162
|
|
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs)
|
rs1057517338
|
|
NM_152564.5(VPS13B):c.2012A>G (p.Lys671Arg)
|
rs2132597258
|
|
NM_152564.5(VPS13B):c.2012_2013dup (p.Asn672fs)
|
|
|
NM_152564.5(VPS13B):c.2013+15T>C
|
|
|
NM_152564.5(VPS13B):c.2013+19T>C
|
|
|
NM_152564.5(VPS13B):c.2013+2341_2166del
|
|
|
NM_152564.5(VPS13B):c.2013+3A>G
|
|
|
NM_152564.5(VPS13B):c.2013+4T>C
|
|
|
NM_152564.5(VPS13B):c.2013+9del
|
rs2132597306
|
|
NM_152564.5(VPS13B):c.2013G>A (p.Lys671=)
|
|
|
NM_152564.5(VPS13B):c.2014-15A>G
|
rs1811373750
|
|
NM_152564.5(VPS13B):c.2014-2A>G
|
rs1588095580
|
|
NM_152564.5(VPS13B):c.2014-7T>A
|
|
|
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter)
|
rs1554645551
|
|
NM_152564.5(VPS13B):c.2019A>C (p.Ser673=)
|
|
|
NM_152564.5(VPS13B):c.2020A>G (p.Ser674Gly)
|
|
|
NM_152564.5(VPS13B):c.2032A>G (p.Asn678Asp)
|
rs2132624177
|
|
NM_152564.5(VPS13B):c.2033A>G (p.Asn678Ser)
|
rs751669595
|
|
NM_152564.5(VPS13B):c.2034T>C (p.Asn678=)
|
rs2132624190
|
|
NM_152564.5(VPS13B):c.2034TAC[1] (p.Thr680del)
|
rs1554645561
|
|
NM_152564.5(VPS13B):c.2035A>G (p.Thr679Ala)
|
rs755151137
|
|
NM_152564.5(VPS13B):c.2047del (p.Gln683fs)
|
rs386834074
|
|
NM_152564.5(VPS13B):c.2048A>G (p.Gln683Arg)
|
rs372585253
|
|
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu)
|
rs372585253
|
|
NM_152564.5(VPS13B):c.204T>C (p.His68=)
|
|
|
NM_152564.5(VPS13B):c.2058G>T (p.Arg686=)
|
rs1811377192
|
|
NM_152564.5(VPS13B):c.2073T>C (p.Ile691=)
|
|
|
NM_152564.5(VPS13B):c.2074C>A (p.Arg692=)
|
|
|
NM_152564.5(VPS13B):c.2078T>C (p.Ile693Thr)
|
|
|
NM_152564.5(VPS13B):c.207A>G (p.Val69=)
|
|
|
NM_152564.5(VPS13B):c.2081TGG[1] (p.Val695del)
|
rs765610228
|
|
NM_152564.5(VPS13B):c.2083G>A (p.Val695Met)
|
rs763463283
|
|
NM_152564.5(VPS13B):c.2089A>G (p.Lys697Glu)
|
rs1563573152
|
|
NM_152564.5(VPS13B):c.2091A>T (p.Lys697Asn)
|
rs376694328
|
|
NM_152564.5(VPS13B):c.2098C>G (p.Leu700Val)
|
rs2132624430
|
|
NM_152564.5(VPS13B):c.2100G>T (p.Leu700=)
|
|
|
NM_152564.5(VPS13B):c.2103A>G (p.Glu701=)
|
|
|
NM_152564.5(VPS13B):c.2107dup (p.Ser703fs)
|
rs1811379645
|
|
NM_152564.5(VPS13B):c.210A>C (p.Pro70=)
|
|
|
NM_152564.5(VPS13B):c.210A>G (p.Pro70=)
|
|
|
NM_152564.5(VPS13B):c.2116A>T (p.Met706Leu)
|
|
|
NM_152564.5(VPS13B):c.2117T>C (p.Met706Thr)
|
rs2132624500
|
|
NM_152564.5(VPS13B):c.211T>C (p.Trp71Arg)
|
rs886062534
|
|
NM_152564.5(VPS13B):c.2127A>G (p.Glu709=)
|
rs1388916447
|
|
NM_152564.5(VPS13B):c.2139T>A (p.His713Gln)
|
rs1811381345
|
|
NM_152564.5(VPS13B):c.2142G>C (p.Val714=)
|
|
|
NM_152564.5(VPS13B):c.2146A>C (p.Ser716Arg)
|
|
|
NM_152564.5(VPS13B):c.2148C>T (p.Ser716=)
|
rs2132624558
|
|
NM_152564.5(VPS13B):c.2149A>G (p.Ser717Gly)
|
rs2132624568
|
|
NM_152564.5(VPS13B):c.2157T>C (p.Thr719=)
|
|
|
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)
|
rs777593389
|
|
NM_152564.5(VPS13B):c.2172C>T (p.Asn724=)
|
|
|
NM_152564.5(VPS13B):c.2177T>C (p.Leu726Pro)
|
|
|
NM_152564.5(VPS13B):c.2178T>C (p.Leu726=)
|
|
|
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs)
|
rs2132624625
|
|
NM_152564.5(VPS13B):c.2184T>C (p.Tyr728=)
|
rs757079471
|
|
NM_152564.5(VPS13B):c.2189A>G (p.Tyr730Cys)
|
|
|
NM_152564.5(VPS13B):c.2190T>A (p.Tyr730Ter)
|
|
|
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter)
|
|
|
NM_152564.5(VPS13B):c.2193A>G (p.Val731=)
|
|
|
NM_152564.5(VPS13B):c.219A>G (p.Lys73=)
|
rs1842838550
|
|
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs)
|
rs386834075
|
|
NM_152564.5(VPS13B):c.2208+10G>A
|
rs1386411395
|
|
NM_152564.5(VPS13B):c.2208+19_2208+21del
|
|
|
NM_152564.5(VPS13B):c.2208+9del
|
rs2132624713
|
|
NM_152564.5(VPS13B):c.2208G>C (p.Lys736Asn)
|
|
|
NM_152564.5(VPS13B):c.2209-14T>C
|
rs935426581
|
|
NM_152564.5(VPS13B):c.2209-17T>C
|
|
|
NM_152564.5(VPS13B):c.2209-19T>A
|
|
|
NM_152564.5(VPS13B):c.2209-2A>G
|
|
|
NM_152564.5(VPS13B):c.2209-4T>G
|
rs201309214
|
|
NM_152564.5(VPS13B):c.2209-8T>G
|
rs1426142075
|
|
NM_152564.5(VPS13B):c.2209-9T>G
|
|
|
NM_152564.5(VPS13B):c.2217T>C (p.Gly739=)
|
|
|
NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter)
|
|
|
NM_152564.5(VPS13B):c.2241G>C (p.Leu747Phe)
|
rs757030166
|
|
NM_152564.5(VPS13B):c.2244T>G (p.Asp748Glu)
|
rs146450992
|
|
NM_152564.5(VPS13B):c.2253A>T (p.Gly751=)
|
rs1812239434
|
|
NM_152564.5(VPS13B):c.2258A>G (p.Tyr753Cys)
|
|
|
NM_152564.5(VPS13B):c.225T>C (p.Gly75=)
|
|
|
NM_152564.5(VPS13B):c.2265A>G (p.Leu755=)
|
rs2132663369
|
|
NM_152564.5(VPS13B):c.2268del (p.Val757fs)
|
rs1057516532
|
|
NM_152564.5(VPS13B):c.2269G>A (p.Val757Ile)
|
rs1202638841
|
|
NM_152564.5(VPS13B):c.2274del (p.Val759fs)
|
|
|
NM_152564.5(VPS13B):c.2281C>T (p.Pro761Ser)
|
rs1812241248
|
|
NM_152564.5(VPS13B):c.2283C>G (p.Pro761=)
|
rs2132663446
|
|
NM_152564.5(VPS13B):c.2283C>T (p.Pro761=)
|
|
|
NM_152564.5(VPS13B):c.2289C>A (p.Phe763Leu)
|
|
|
NM_152564.5(VPS13B):c.2289C>T (p.Phe763=)
|
|
|
NM_152564.5(VPS13B):c.2291G>T (p.Ser764Ile)
|
|
|
NM_152564.5(VPS13B):c.2292C>T (p.Ser764=)
|
|
|
NM_152564.5(VPS13B):c.2295T>A (p.Thr765=)
|
|
|
NM_152564.5(VPS13B):c.229G>A (p.Glu77Lys)
|
|
|
NM_152564.5(VPS13B):c.22C>G (p.Pro8Ala)
|
|
|
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs)
|
rs386834076
|
|
NM_152564.5(VPS13B):c.2301T>A (p.Leu767=)
|
rs2132663494
|
|
NM_152564.5(VPS13B):c.2306G>C (p.Gly769Ala)
|
rs1812242519
|
|
NM_152564.5(VPS13B):c.2308A>C (p.Lys770Gln)
|
|
|
NM_152564.5(VPS13B):c.2309A>G (p.Lys770Arg)
|
rs2132663512
|
|
NM_152564.5(VPS13B):c.2314C>T (p.Leu772=)
|
|
|
NM_152564.5(VPS13B):c.2321_2322del (p.Leu774fs)
|
rs2132663525
|
|
NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala)
|
rs779218452
|
|
NM_152564.5(VPS13B):c.232C>A (p.Pro78Thr)
|
rs954707371
|
|
NM_152564.5(VPS13B):c.2330G>A (p.Cys777Tyr)
|
rs900452617
|
|
NM_152564.5(VPS13B):c.2333+11C>G
|
|
|
NM_152564.5(VPS13B):c.2333+13T>C
|
|
|
NM_152564.5(VPS13B):c.2333+16T>A
|
|
|
NM_152564.5(VPS13B):c.2333+1G>T
|
rs1812243683
|
|
NM_152564.5(VPS13B):c.2333+2T>C
|
rs1554652265
|
|
NM_152564.5(VPS13B):c.2333+3A>G
|
|
|
NM_152564.5(VPS13B):c.2334-10T>C
|
|
|
NM_152564.5(VPS13B):c.2334-13T>C
|
rs768924726
|
|
NM_152564.5(VPS13B):c.2334-15T>C
|
rs944097523
|
|
NM_152564.5(VPS13B):c.2334-16C>A
|
|
|
NM_152564.5(VPS13B):c.2334-16_2334-11del
|
rs986620460
|
|
NM_152564.5(VPS13B):c.2334-18T>A
|
|
|
NM_152564.5(VPS13B):c.2334-18_2334-15del
|
rs2132727808
|
|
NM_152564.5(VPS13B):c.2334-19T>C
|
|
|
NM_152564.5(VPS13B):c.2334-19T>G
|
|
|
NM_152564.5(VPS13B):c.2334-20C>A
|
|
|
NM_152564.5(VPS13B):c.2334-2A>G
|
rs1554665974
|
|
NM_152564.5(VPS13B):c.2334-3C>G
|
rs749105779
|
|
NM_152564.5(VPS13B):c.2334-4G>A
|
|
|
NM_152564.5(VPS13B):c.2334-6G>A
|
rs564691751
|
|
NM_152564.5(VPS13B):c.2334-6G>T
|
|
|
NM_152564.5(VPS13B):c.2334-9C>T
|
rs2132727896
|
|
NM_152564.5(VPS13B):c.2334G>A (p.Trp778Ter)
|
rs2132727940
|
|
NM_152564.5(VPS13B):c.2336C>T (p.Thr779Ile)
|
|
|
NM_152564.5(VPS13B):c.2338A>C (p.Lys780Gln)
|
rs1359263734
|
|
NM_152564.5(VPS13B):c.2338A>G (p.Lys780Glu)
|
rs1359263734
|
|
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter)
|
rs1057516681
|
|
NM_152564.5(VPS13B):c.2347_2348del (p.Gln783fs)
|
rs1813682416
|
|
NM_152564.5(VPS13B):c.2350A>C (p.Ile784Leu)
|
|
|
NM_152564.5(VPS13B):c.2355T>A (p.Ala785=)
|
|
|
NM_152564.5(VPS13B):c.2361T>A (p.Thr787=)
|
|
|
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter)
|
rs1554666009
|
|
NM_152564.5(VPS13B):c.2367T>C (p.Gly789=)
|
|
|
NM_152564.5(VPS13B):c.236T>C (p.Val79Ala)
|
rs1587947443
|
|
NM_152564.5(VPS13B):c.2380C>A (p.Pro794Thr)
|
rs754548698
|
|
NM_152564.5(VPS13B):c.2381del (p.Pro794fs)
|
rs2132728101
|
|
NM_152564.5(VPS13B):c.2383A>T (p.Asn795Tyr)
|
rs781012935
|
|
NM_152564.5(VPS13B):c.2385T>C (p.Asn795=)
|
rs2132728136
|
|
NM_152564.5(VPS13B):c.2387_2388del (p.Leu796fs)
|
rs2132728144
|
|
NM_152564.5(VPS13B):c.2391A>T (p.Thr797=)
|
|
|
NM_152564.5(VPS13B):c.2395C>A (p.Gln799Lys)
|
|
|
NM_152564.5(VPS13B):c.2400T>G (p.Ala800=)
|
rs2132728204
|
|
NM_152564.5(VPS13B):c.2404A>G (p.Arg802Gly)
|
|
|
NM_152564.5(VPS13B):c.240A>G (p.Val80=)
|
|
|
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter)
|
rs869312923
|
|
NM_152564.5(VPS13B):c.2411A>G (p.Gln804Arg)
|
|
|
NM_152564.5(VPS13B):c.2414C>G (p.Thr805Arg)
|
rs1813686473
|
|
NM_152564.5(VPS13B):c.2422T>C (p.Leu808=)
|
|
|
NM_152564.5(VPS13B):c.2425C>T (p.Gln809Ter)
|
rs2132728269
|
|
NM_152564.5(VPS13B):c.2427A>G (p.Gln809=)
|
|
|
NM_152564.5(VPS13B):c.2431A>C (p.Ile811Leu)
|
rs370570714
|
|
NM_152564.5(VPS13B):c.2431A>G (p.Ile811Val)
|
rs370570714
|
|
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=)
|
rs540795071
|
|
NM_152564.5(VPS13B):c.2435A>G (p.Tyr812Cys)
|
|
|
NM_152564.5(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla)
|
rs1813688418
|
|
NM_152564.5(VPS13B):c.2445G>A (p.Trp815Ter)
|
|
|
NM_152564.5(VPS13B):c.2452C>T (p.Leu818Phe)
|
rs2132728416
|
|
NM_152564.5(VPS13B):c.2488T>C (p.Leu830=)
|
rs1449471227
|
|
NM_152564.5(VPS13B):c.2488T>G (p.Leu830Val)
|
|
|
NM_152564.5(VPS13B):c.2495A>G (p.Asn832Ser)
|
rs1286492322
|
|
NM_152564.5(VPS13B):c.2496T>C (p.Asn832=)
|
rs2132728537
|
|
NM_152564.5(VPS13B):c.2498A>G (p.Glu833Gly)
|
rs886841517
|
|
NM_152564.5(VPS13B):c.2499A>G (p.Glu833=)
|
rs2132728546
|
|
NM_152564.5(VPS13B):c.249C>G (p.Ile83Met)
|
rs765314153
|
|
NM_152564.5(VPS13B):c.2500A>G (p.Ile834Val)
|
|
|
NM_152564.5(VPS13B):c.2505C>T (p.Phe835=)
|
|
|
NM_152564.5(VPS13B):c.2507del (p.Leu836fs)
|
|
|
NM_152564.5(VPS13B):c.2508A>G (p.Leu836=)
|
|
|
NM_152564.5(VPS13B):c.250A>G (p.Asn84Asp)
|
rs1842839907
|
|
NM_152564.5(VPS13B):c.2512A>G (p.Ile838Val)
|
|
|
NM_152564.5(VPS13B):c.2513T>C (p.Ile838Thr)
|
|
|
NM_152564.5(VPS13B):c.2513_2514del (p.Ile838fs)
|
rs2132728587
|
|
NM_152564.5(VPS13B):c.2514A>G (p.Ile838Met)
|
|
|
NM_152564.5(VPS13B):c.2515+10_2515+11del
|
rs756906184
|
|
NM_152564.5(VPS13B):c.2515+11A>G
|
|
|
NM_152564.5(VPS13B):c.2515+15T>C
|
|
|
NM_152564.5(VPS13B):c.2515+16591C>G
|
|
|
NM_152564.5(VPS13B):c.2515+16596_2515+16608del
|
rs1554674064
|
|
NM_152564.5(VPS13B):c.2515+16609T>G
|
rs1554674081
|
|
NM_152564.5(VPS13B):c.2515+18T>C
|
|
|
NM_152564.5(VPS13B):c.2515+37177T>C
|
rs207469599
|
|
NM_152564.5(VPS13B):c.2515+7G>A
|
|
|
NM_152564.5(VPS13B):c.2515G>C (p.Gly839Arg)
|
|
|
NM_152564.5(VPS13B):c.2516-10C>G
|
|
|
NM_152564.5(VPS13B):c.2516-10C>T
|
|
|
NM_152564.5(VPS13B):c.2516-13T>A
|
|
|
NM_152564.5(VPS13B):c.2516-17C>T
|
rs1198342716
|
|
NM_152564.5(VPS13B):c.2516-2A>G
|
rs1554706114
|
|
NM_152564.5(VPS13B):c.2516-3T>A
|
rs377723973
|
|
NM_152564.5(VPS13B):c.2516-5A>G
|
rs756282496
|
|
NM_152564.5(VPS13B):c.2516-6T>C
|
rs2132994722
|
|
NM_152564.5(VPS13B):c.2518G>A (p.Val840Met)
|
rs141694201
|
|
NM_152564.5(VPS13B):c.2521A>T (p.Lys841Ter)
|
|
|
NM_152564.5(VPS13B):c.2522A>G (p.Lys841Arg)
|
rs1376390404
|
|
NM_152564.5(VPS13B):c.2523A>G (p.Lys841=)
|
|
|
NM_152564.5(VPS13B):c.2527_2528insT (p.Lys843fs)
|
rs1818768251
|
|
NM_152564.5(VPS13B):c.2531A>G (p.Asn844Ser)
|
rs2132994774
|
|
NM_152564.5(VPS13B):c.2536C>G (p.Leu846Val)
|
rs934545731
|
|
NM_152564.5(VPS13B):c.2536del (p.Leu846fs)
|
rs1818768394
|
|
NM_152564.5(VPS13B):c.2541A>G (p.Pro847=)
|
rs2132994812
|
|
NM_152564.5(VPS13B):c.2542A>G (p.Thr848Ala)
|
rs745738175
|
|
NM_152564.5(VPS13B):c.2543C>T (p.Thr848Ile)
|
rs1818769668
|
|
NM_152564.5(VPS13B):c.2547T>G (p.Leu849=)
|
|
|
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs)
|
rs1554706149
|
|
NM_152564.5(VPS13B):c.2555C>T (p.Ser852Leu)
|
rs147682334
|
|
NM_152564.5(VPS13B):c.2558del (p.Ile853fs)
|
|
|
NM_152564.5(VPS13B):c.2560C>T (p.Gln854Ter)
|
rs2132994876
|
|
NM_152564.5(VPS13B):c.2567T>C (p.Val856Ala)
|
rs1588198594
|
|
NM_152564.5(VPS13B):c.256A>G (p.Met86Val)
|
|
|
NM_152564.5(VPS13B):c.2571A>G (p.Glu857=)
|
|
|
NM_152564.5(VPS13B):c.2572T>C (p.Leu858=)
|
|
|
NM_152564.5(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys)
|
rs1554706171
|
|
NM_152564.5(VPS13B):c.2583C>A (p.Cys861Ter)
|
rs199868590
|
|
NM_152564.5(VPS13B):c.2584A>G (p.Ser862Gly)
|
rs2132994953
|
|
NM_152564.5(VPS13B):c.2586C>T (p.Ser862=)
|
rs2132994959
|
|
NM_152564.5(VPS13B):c.2589A>G (p.Thr863=)
|
rs865998297
|
|
NM_152564.5(VPS13B):c.2589A>T (p.Thr863=)
|
|
|
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)
|
rs140936527
|
|
NM_152564.5(VPS13B):c.2592A>G (p.Ser864=)
|
|
|
NM_152564.5(VPS13B):c.259del (p.Glu87fs)
|
|
|
NM_152564.5(VPS13B):c.2603G>A (p.Cys868Tyr)
|
|
|
NM_152564.5(VPS13B):c.2607C>G (p.Ala869=)
|
|
|
NM_152564.5(VPS13B):c.2607C>T (p.Ala869=)
|
rs2132995061
|
|
NM_152564.5(VPS13B):c.2609C>T (p.Ser870Phe)
|
rs376044341
|
|
NM_152564.5(VPS13B):c.2613G>A (p.Gly871=)
|
rs543695683
|
|
NM_152564.5(VPS13B):c.2625A>G (p.Ser875=)
|
|
|
NM_152564.5(VPS13B):c.2634T>C (p.Ile878=)
|
rs771711465
|
|
NM_152564.5(VPS13B):c.2639C>T (p.Ala880Val)
|
|
|
NM_152564.5(VPS13B):c.2640C>T (p.Ala880=)
|
|
|
NM_152564.5(VPS13B):c.2642A>C (p.Lys881Thr)
|
rs2132995145
|
|
NM_152564.5(VPS13B):c.2646C>T (p.Ala882=)
|
rs369124790
|
|
NM_152564.5(VPS13B):c.2648C>T (p.Pro883Leu)
|
rs1192025517
|
|
NM_152564.5(VPS13B):c.2649A>G (p.Pro883=)
|
|
|
NM_152564.5(VPS13B):c.2650+14G>A
|
|
|
NM_152564.5(VPS13B):c.2650+15A>G
|
|
|
NM_152564.5(VPS13B):c.2650+17C>A
|
rs753268999
|
|
NM_152564.5(VPS13B):c.2650+18G>A
|
|
|
NM_152564.5(VPS13B):c.2650+18G>T
|
|
|
NM_152564.5(VPS13B):c.2650+19T>C
|
|
|
NM_152564.5(VPS13B):c.2650+1G>A
|
rs1554706285
|
|
NM_152564.5(VPS13B):c.2650+8C>T
|
rs2132995227
|
|
NM_152564.5(VPS13B):c.2651-12A>G
|
rs886062538
|
|
NM_152564.5(VPS13B):c.2651-17T>A
|
|
|
NM_152564.5(VPS13B):c.2651-18A>G
|
|
|
NM_152564.5(VPS13B):c.2651-1G>A
|
rs386834077
|
|
NM_152564.5(VPS13B):c.2651-4T>C
|
|
|
NM_152564.5(VPS13B):c.2651-5T>G
|
|
|
NM_152564.5(VPS13B):c.2670G>A (p.Lys890=)
|
rs2132998272
|
|
NM_152564.5(VPS13B):c.2676T>A (p.Ile892=)
|
rs2132998319
|
|
NM_152564.5(VPS13B):c.2677C>A (p.Pro893Thr)
|
rs373346647
|
|
NM_152564.5(VPS13B):c.2677C>G (p.Pro893Ala)
|
rs373346647
|
|
NM_152564.5(VPS13B):c.2679C>G (p.Pro893=)
|
|
|
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs)
|
rs1554706662
|
|
NM_152564.5(VPS13B):c.2693C>T (p.Pro898Leu)
|
rs1818826321
|
|
NM_152564.5(VPS13B):c.2703T>C (p.Thr901=)
|
|
|
NM_152564.5(VPS13B):c.2709C>T (p.Asp903=)
|
rs1295995587
|
|
NM_152564.5(VPS13B):c.2715T>C (p.His905=)
|
rs1161109130
|
|
NM_152564.5(VPS13B):c.2718C>T (p.Ser906=)
|
|
|
NM_152564.5(VPS13B):c.2723del (p.Lys908fs)
|
|
|
NM_152564.5(VPS13B):c.2724G>A (p.Lys908=)
|
|
|
NM_152564.5(VPS13B):c.2725T>G (p.Trp909Gly)
|
|
|
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs)
|
rs180177357
|
|
NM_152564.5(VPS13B):c.2730C>T (p.Leu910=)
|
rs2132998543
|
|
NM_152564.5(VPS13B):c.2732A>G (p.Asn911Ser)
|
rs1818828701
|
|
NM_152564.5(VPS13B):c.2738G>C (p.Ser913Thr)
|
rs751622263
|
|
NM_152564.5(VPS13B):c.2738G>T (p.Ser913Ile)
|
|
|
NM_152564.5(VPS13B):c.2740A>C (p.Arg914=)
|
|
|
NM_152564.5(VPS13B):c.2745G>A (p.Lys915=)
|
|
|
NM_152564.5(VPS13B):c.2750_2751del (p.Glu917fs)
|
|
|
NM_152564.5(VPS13B):c.2752T>C (p.Ser918Pro)
|
rs886062539
|
|
NM_152564.5(VPS13B):c.2763T>G (p.Ala921=)
|
|
|
NM_152564.5(VPS13B):c.276T>A (p.Leu92=)
|
|
|
NM_152564.5(VPS13B):c.276del (p.Lys93fs)
|
|
|
NM_152564.5(VPS13B):c.2771del (p.Asp923_Leu924insTer)
|
|
|
NM_152564.5(VPS13B):c.2776G>A (p.Ala926Thr)
|
|
|
NM_152564.5(VPS13B):c.2778C>T (p.Ala926=)
|
|
|
NM_152564.5(VPS13B):c.2778del (p.Phe927fs)
|
rs1818830393
|
|
NM_152564.5(VPS13B):c.2783C>G (p.Thr928Arg)
|
rs1563641612
|
|
NM_152564.5(VPS13B):c.2784A>C (p.Thr928=)
|
rs2132998726
|
|
NM_152564.5(VPS13B):c.2799A>G (p.Gln933=)
|
rs1818831444
|
|
NM_152564.5(VPS13B):c.2800T>C (p.Tyr934His)
|
rs1679704470
|
|
NM_152564.5(VPS13B):c.2802T>C (p.Tyr934=)
|
rs906591800
|
|
NM_152564.5(VPS13B):c.2811C>T (p.Tyr937=)
|
|
|
NM_152564.5(VPS13B):c.2812T>G (p.Cys938Gly)
|
rs1818832537
|
|
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs)
|
rs1057517255
|
|
NM_152564.5(VPS13B):c.2824+13C>G
|
|
|
NM_152564.5(VPS13B):c.2824+15A>G
|
|
|
NM_152564.5(VPS13B):c.2824+18A>C
|
|
|
NM_152564.5(VPS13B):c.2824+18A>G
|
rs756055744
|
|
NM_152564.5(VPS13B):c.2824+2T>G
|
rs141703746
|
|
NM_152564.5(VPS13B):c.2824+4A>G
|
|
|
NM_152564.5(VPS13B):c.2824+5_2824+11dup
|
|
|
NM_152564.5(VPS13B):c.2824+7A>G
|
rs2132999013
|
|
NM_152564.5(VPS13B):c.2824+8C>G
|
|
|
NM_152564.5(VPS13B):c.2824+97G>C
|
rs7840337
|
|
NM_152564.5(VPS13B):c.2824G>T (p.Gly942Cys)
|
rs370336663
|
|
NM_152564.5(VPS13B):c.2825-11T>C
|
|
|
NM_152564.5(VPS13B):c.2825-13T>C
|
|
|
NM_152564.5(VPS13B):c.2825-14A>G
|
|
|
NM_152564.5(VPS13B):c.2825-9G>A
|
rs2133295036
|
|
NM_152564.5(VPS13B):c.2825G>A (p.Gly942Asp)
|
|
|
NM_152564.5(VPS13B):c.2828del (p.Ala943fs)
|
rs1554765140
|
|
NM_152564.5(VPS13B):c.2829T>C (p.Ala943=)
|
|
|
NM_152564.5(VPS13B):c.2830G>T (p.Val944Leu)
|
rs753607562
|
|
NM_152564.5(VPS13B):c.2832A>G (p.Val944=)
|
|
|
NM_152564.5(VPS13B):c.2843G>A (p.Ser948Asn)
|
rs749988222
|
|
NM_152564.5(VPS13B):c.2845A>G (p.Ile949Val)
|
rs758076178
|
|
NM_152564.5(VPS13B):c.2852G>T (p.Gly951Val)
|
rs770406179
|
|
NM_152564.5(VPS13B):c.2855del (p.Leu952fs)
|
rs1554765173
|
|
NM_152564.5(VPS13B):c.285G>A (p.Gly95=)
|
rs2132222228
|
|
NM_152564.5(VPS13B):c.285G>C (p.Gly95=)
|
|
|
NM_152564.5(VPS13B):c.285dup (p.Ile96fs)
|
|
|
NM_152564.5(VPS13B):c.2864A>G (p.Asn955Ser)
|
rs771483197
|
|
NM_152564.5(VPS13B):c.2867T>C (p.Ile956Thr)
|
|
|
NM_152564.5(VPS13B):c.2872C>A (p.Pro958Thr)
|
|
|
NM_152564.5(VPS13B):c.2877C>A (p.Ile959=)
|
rs371301713
|
|
NM_152564.5(VPS13B):c.2879T>G (p.Leu960Ter)
|
rs775378782
|
|
NM_152564.5(VPS13B):c.2887T>G (p.Trp963Gly)
|
rs761581467
|
|
NM_152564.5(VPS13B):c.2889del (p.Trp963fs)
|
rs1563700124
|
|
NM_152564.5(VPS13B):c.2893_2895del (p.Ile965del)
|
rs748137454
|
|
NM_152564.5(VPS13B):c.2895C>T (p.Ile965=)
|
|
|
NM_152564.5(VPS13B):c.2900A>G (p.Gln967Arg)
|
|
|
NM_152564.5(VPS13B):c.2903C>T (p.Pro968Leu)
|
|
|
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter)
|
rs2133295344
|
|
NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter)
|
|
|
NM_152564.5(VPS13B):c.291+10T>A
|
|
|
NM_152564.5(VPS13B):c.291+10T>G
|
rs2132222283
|
|
NM_152564.5(VPS13B):c.291+11A>G
|
|
|
NM_152564.5(VPS13B):c.291+13T>C
|
|
|
NM_152564.5(VPS13B):c.291+17C>G
|
|
|
NM_152564.5(VPS13B):c.291+1G>A
|
rs1057516857
|
|
NM_152564.5(VPS13B):c.291+20A>C
|
rs2132222331
|
|
NM_152564.5(VPS13B):c.291+2T>A
|
|
|
NM_152564.5(VPS13B):c.291+7A>C
|
rs571078874
|
|
NM_152564.5(VPS13B):c.291+8A>G
|
|
|
NM_152564.5(VPS13B):c.2915C>T (p.Thr972Ile)
|
|
|
NM_152564.5(VPS13B):c.292-12A>T
|
|
|
NM_152564.5(VPS13B):c.292-18T>C
|
rs2132431309
|
|
NM_152564.5(VPS13B):c.292-2A>G
|
rs386834079
|
|
NM_152564.5(VPS13B):c.292-7A>G
|
rs1554612610
|
|
NM_152564.5(VPS13B):c.2923C>A (p.His975Asn)
|
rs1813997088
|
|
NM_152564.5(VPS13B):c.2927T>C (p.Met976Thr)
|
rs1439673220
|
|
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter)
|
rs1563700205
|
|
NM_152564.5(VPS13B):c.2934+14A>C
|
|
|
NM_152564.5(VPS13B):c.2934+19A>T
|
|
|
NM_152564.5(VPS13B):c.2934+1G>T
|
rs775729058
|
|
NM_152564.5(VPS13B):c.2934+1_2934+2del
|
rs180177358
|
|
NM_152564.5(VPS13B):c.2934+25dup
|
rs770873113
|
|
NM_152564.5(VPS13B):c.2934+2T>A
|
|
|
NM_152564.5(VPS13B):c.2934+7G>A
|
rs368439781
|
|
NM_152564.5(VPS13B):c.2934+7G>T
|
|
|
NM_152564.5(VPS13B):c.2934+8A>T
|
|
|
NM_152564.5(VPS13B):c.2935-10C>T
|
|
|
NM_152564.5(VPS13B):c.2935-12G>A
|
|
|
NM_152564.5(VPS13B):c.2935-14T>G
|
|
|
NM_152564.5(VPS13B):c.2935-17A>G
|
|
|
NM_152564.5(VPS13B):c.2935-1G>A
|
rs2133312466
|
|
NM_152564.5(VPS13B):c.2935-20T>C
|
|
|
NM_152564.5(VPS13B):c.2935-4C>A
|
rs207469601
|
|
NM_152564.5(VPS13B):c.2935C>T (p.Gln979Ter)
|
|
|
NM_152564.5(VPS13B):c.2940T>C (p.Pro980=)
|
|
|
NM_152564.5(VPS13B):c.2943G>T (p.Val981=)
|
rs759221342
|
|
NM_152564.5(VPS13B):c.2946A>C (p.Val982=)
|
|
|
NM_152564.5(VPS13B):c.2946A>G (p.Val982=)
|
rs2133312490
|
|
NM_152564.5(VPS13B):c.2946A>T (p.Val982=)
|
rs2133312490
|
|
NM_152564.5(VPS13B):c.2948C>A (p.Ala983Asp)
|
|
|
NM_152564.5(VPS13B):c.2950G>C (p.Val984Leu)
|
|
|
NM_152564.5(VPS13B):c.2959G>A (p.Val987Ile)
|
rs1814450578
|
|
NM_152564.5(VPS13B):c.2963dup (p.Met988fs)
|
|
|
NM_152564.5(VPS13B):c.2965C>A (p.Pro989Thr)
|
|
|
NM_152564.5(VPS13B):c.2970T>C (p.Val990=)
|
|
|
NM_152564.5(VPS13B):c.2975G>A (p.Arg992Lys)
|
|
|
NM_152564.5(VPS13B):c.2976A>G (p.Arg992=)
|
rs2133312565
|
|
NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter)
|
|
|
NM_152564.5(VPS13B):c.2982A>G (p.Lys994=)
|
rs750994865
|
|
NM_152564.5(VPS13B):c.2985G>A (p.Glu995=)
|
rs1484738776
|
|
NM_152564.5(VPS13B):c.2988T>A (p.Asp996Glu)
|
rs758840412
|
|
NM_152564.5(VPS13B):c.2989dup (p.Glu997fs)
|
rs2133312597
|
|
NM_152564.5(VPS13B):c.2991G>A (p.Glu997=)
|
|
|
NM_152564.5(VPS13B):c.2993T>G (p.Val998Gly)
|
rs892148263
|
|
NM_152564.5(VPS13B):c.2999T>C (p.Ile1000Thr)
|
|
|
NM_152564.5(VPS13B):c.3000T>A (p.Ile1000=)
|
rs1465563233
|
|
NM_152564.5(VPS13B):c.3005G>A (p.Ser1002Asn)
|
|
|
NM_152564.5(VPS13B):c.3009C>A (p.Ala1003=)
|
|
|
NM_152564.5(VPS13B):c.3009C>T (p.Ala1003=)
|
|
|
NM_152564.5(VPS13B):c.3010C>T (p.Pro1004Ser)
|
rs2133312661
|
|
NM_152564.5(VPS13B):c.3011C>A (p.Pro1004His)
|
|
|
NM_152564.5(VPS13B):c.3012C>T (p.Pro1004=)
|
rs199519352
|
|
NM_152564.5(VPS13B):c.3013T>A (p.Leu1005Met)
|
rs1563704394
|
|
NM_152564.5(VPS13B):c.3013T>C (p.Leu1005=)
|
rs1563704394
|
|
NM_152564.5(VPS13B):c.3015G>A (p.Leu1005=)
|
|
|
NM_152564.5(VPS13B):c.3017C>A (p.Ala1006Glu)
|
|
|
NM_152564.5(VPS13B):c.3020A>C (p.Lys1007Thr)
|
rs1297164249
|
|
NM_152564.5(VPS13B):c.3020A>G (p.Lys1007Arg)
|
rs1297164249
|
|
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs)
|
rs1554767735
|
|
NM_152564.5(VPS13B):c.3021G>A (p.Lys1007=)
|
rs1043986535
|
|
NM_152564.5(VPS13B):c.3023A>G (p.Gln1008Arg)
|
|
|
NM_152564.5(VPS13B):c.3025C>T (p.Gln1009Ter)
|
rs2133312718
|
|
NM_152564.5(VPS13B):c.3026A>T (p.Gln1009Leu)
|
rs1814454254
|
|
NM_152564.5(VPS13B):c.3027A>G (p.Gln1009=)
|
rs1814454495
|
|
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)
|
rs1057516670
|
|
NM_152564.5(VPS13B):c.3032_3033del (p.Tyr1011fs)
|
|
|
NM_152564.5(VPS13B):c.3039C>T (p.Ala1013=)
|
rs1369894896
|
|
NM_152564.5(VPS13B):c.3048T>C (p.Tyr1016=)
|
rs2133312781
|
|
NM_152564.5(VPS13B):c.3058C>A (p.Pro1020Thr)
|
|
|
NM_152564.5(VPS13B):c.3060T>C (p.Pro1020=)
|
|
|
NM_152564.5(VPS13B):c.3061G>C (p.Val1021Leu)
|
|
|
NM_152564.5(VPS13B):c.3067A>T (p.Thr1023Ser)
|
rs1814455883
|
|
NM_152564.5(VPS13B):c.3068del (p.Thr1023fs)
|
rs2133312827
|
|
NM_152564.5(VPS13B):c.3070A>G (p.Lys1024Glu)
|
|
|
NM_152564.5(VPS13B):c.3072A>G (p.Lys1024=)
|
rs2133312842
|
|
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs)
|
rs1057516834
|
|
NM_152564.5(VPS13B):c.3074C>T (p.Thr1025Met)
|
|
|
NM_152564.5(VPS13B):c.3075G>C (p.Thr1025=)
|
|
|
NM_152564.5(VPS13B):c.3082+11A>G
|
|
|
NM_152564.5(VPS13B):c.3082+12G>A
|
|
|
NM_152564.5(VPS13B):c.3082+13T>C
|
|
|
NM_152564.5(VPS13B):c.3082+14A>G
|
|
|
NM_152564.5(VPS13B):c.3082+17G>A
|
rs2133312921
|
|
NM_152564.5(VPS13B):c.3082+18dup
|
|
|
NM_152564.5(VPS13B):c.3082+19A>G
|
|
|
NM_152564.5(VPS13B):c.3082+1G>A
|
|
|
NM_152564.5(VPS13B):c.3082+5G>A
|
|
|
NM_152564.5(VPS13B):c.3082+9C>A
|
|
|
NM_152564.5(VPS13B):c.3083-11C>T
|
|
|
NM_152564.5(VPS13B):c.3083-1G>A
|
rs1563726973
|
|
NM_152564.5(VPS13B):c.3083-5C>G
|
|
|
NM_152564.5(VPS13B):c.3083-6A>C
|
|
|
NM_152564.5(VPS13B):c.3083-6A>G
|
|
|
NM_152564.5(VPS13B):c.3083-7_3083-6dup
|
|
|
NM_152564.5(VPS13B):c.3083-8G>C
|
|
|
NM_152564.5(VPS13B):c.3083-8G>T
|
rs201973611
|
|
NM_152564.5(VPS13B):c.3090C>A (p.Arg1030=)
|
rs2133412233
|
|
NM_152564.5(VPS13B):c.3090C>T (p.Arg1030=)
|
|
|
NM_152564.5(VPS13B):c.3093A>G (p.Pro1031=)
|
|
|
NM_152564.5(VPS13B):c.3094T>C (p.Leu1032=)
|
rs373538168
|
|
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs)
|
rs1554788238
|
|
NM_152564.5(VPS13B):c.3099A>G (p.Ser1033=)
|
rs1480645575
|
|
NM_152564.5(VPS13B):c.309T>C (p.Cys103=)
|
rs2132431451
|
|
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs)
|
rs1057516926
|
|
NM_152564.5(VPS13B):c.3108T>G (p.Val1036=)
|
|
|
NM_152564.5(VPS13B):c.310G>A (p.Gly104Ser)
|
|
|
NM_152564.5(VPS13B):c.3115A>G (p.Met1039Val)
|
|
|
NM_152564.5(VPS13B):c.3118T>A (p.Leu1040Met)
|
rs746830200
|
|
NM_152564.5(VPS13B):c.3118T>C (p.Leu1040=)
|
|
|
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs)
|
rs1057517447
|
|
NM_152564.5(VPS13B):c.3147T>C (p.Pro1049=)
|
rs2133412382
|
|
NM_152564.5(VPS13B):c.3151G>T (p.Glu1051Ter)
|
rs2133412405
|
|
NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter)
|
|
|
NM_152564.5(VPS13B):c.3158T>A (p.Met1053Lys)
|
|
|
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter)
|
|
|
NM_152564.5(VPS13B):c.3168T>C (p.Phe1056=)
|
|
|
NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter)
|
|
|
NM_152564.5(VPS13B):c.3177T>A (p.Ile1059=)
|
rs2133412452
|
|
NM_152564.5(VPS13B):c.3178G>A (p.Val1060Ile)
|
|
|
NM_152564.5(VPS13B):c.3183G>T (p.Trp1061Cys)
|
rs1817118329
|
|
NM_152564.5(VPS13B):c.3186T>C (p.Asn1062=)
|
|
|
NM_152564.5(VPS13B):c.3187G>A (p.Ala1063Thr)
|
|
|
NM_152564.5(VPS13B):c.3192G>A (p.Val1064=)
|
|
|
NM_152564.5(VPS13B):c.3194_3198del (p.Lys1065fs)
|
rs2133412472
|
|
NM_152564.5(VPS13B):c.31A>T (p.Met11Leu)
|
|
|
NM_152564.5(VPS13B):c.3200T>C (p.Leu1067Pro)
|
rs1563727071
|
|
NM_152564.5(VPS13B):c.3205C>T (p.Leu1069=)
|
|
|
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs)
|
|
|
NM_152564.5(VPS13B):c.3210+10A>T
|
rs2133412544
|
|
NM_152564.5(VPS13B):c.3210+10_3210+11del
|
|
|
NM_152564.5(VPS13B):c.3210+16G>T
|
|
|
NM_152564.5(VPS13B):c.3210+9A>C
|
rs1430245354
|
|
NM_152564.5(VPS13B):c.3210G>C (p.Gln1070His)
|
rs1411916211
|
|
NM_152564.5(VPS13B):c.3211-12T>C
|
|
|
NM_152564.5(VPS13B):c.3211-9C>G
|
rs772598316
|
|
NM_152564.5(VPS13B):c.3211-9C>T
|
|
|
NM_152564.5(VPS13B):c.3213T>C (p.Leu1071=)
|
rs1588384604
|
|
NM_152564.5(VPS13B):c.3214G>A (p.Glu1072Lys)
|
rs1370204743
|
|
NM_152564.5(VPS13B):c.3214G>T (p.Glu1072Ter)
|
|
|
NM_152564.5(VPS13B):c.3217G>A (p.Val1073Ile)
|
|
|
NM_152564.5(VPS13B):c.3219A>G (p.Val1073=)
|
rs1234904975
|
|
NM_152564.5(VPS13B):c.3221A>G (p.Gln1074Arg)
|
rs1348314962
|
|
NM_152564.5(VPS13B):c.3222A>G (p.Gln1074=)
|
rs979109725
|
|
NM_152564.5(VPS13B):c.3225T>C (p.Ser1075=)
|
rs2133440516
|
|
NM_152564.5(VPS13B):c.322A>G (p.Thr108Ala)
|
rs2132431469
|
|
NM_152564.5(VPS13B):c.3230G>A (p.Cys1077Tyr)
|
|
|
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs)
|
|
|
NM_152564.5(VPS13B):c.3237T>C (p.Phe1079=)
|
rs2133440561
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
NM_152564.5(VPS13B):c.3244A>C (p.Asn1082His)
|
rs765577339
|
|
NM_152564.5(VPS13B):c.3244A>G (p.Asn1082Asp)
|
|
|
NM_152564.5(VPS13B):c.3249T>A (p.Asp1083Glu)
|
rs1196083061
|
|
NM_152564.5(VPS13B):c.3249T>C (p.Asp1083=)
|
|
|
NM_152564.5(VPS13B):c.324C>A (p.Thr108=)
|
rs1846416304
|
|
NM_152564.5(VPS13B):c.3252C>A (p.Ser1084Arg)
|
|
|
NM_152564.5(VPS13B):c.3252C>T (p.Ser1084=)
|
|
|
NM_152564.5(VPS13B):c.3253C>T (p.Leu1085=)
|
rs2133440599
|
|
NM_152564.5(VPS13B):c.3261C>T (p.Ser1087=)
|
|
|
NM_152564.5(VPS13B):c.3276A>G (p.Val1092=)
|
|
|
NM_152564.5(VPS13B):c.3277T>G (p.Ser1093Ala)
|
rs752514763
|
|
NM_152564.5(VPS13B):c.3279T>C (p.Ser1093=)
|
rs1817722882
|
|
NM_152564.5(VPS13B):c.3285C>T (p.Asp1095=)
|
rs2133440683
|
|
NM_152564.5(VPS13B):c.3291T>C (p.Pro1097=)
|
rs2133440688
|
|
NM_152564.5(VPS13B):c.3293G>A (p.Gly1098Glu)
|
|
|
NM_152564.5(VPS13B):c.3294A>C (p.Gly1098=)
|
|
|
NM_152564.5(VPS13B):c.3300A>T (p.Val1100=)
|
rs770402973
|
|
NM_152564.5(VPS13B):c.3307T>A (p.Trp1103Arg)
|
rs747406522
|
|
NM_152564.5(VPS13B):c.3307_3310dup (p.Tyr1104fs)
|
|
|
NM_152564.5(VPS13B):c.3308G>A (p.Trp1103Ter)
|
|
|
NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter)
|
|
|
NM_152564.5(VPS13B):c.3312C>T (p.Tyr1104=)
|
|
|
NM_152564.5(VPS13B):c.3315T>C (p.His1105=)
|
rs2133440745
|
|
NM_152564.5(VPS13B):c.3324C>A (p.Thr1108=)
|
rs762308992
|
|
NM_152564.5(VPS13B):c.3326G>A (p.Ser1109Asn)
|
rs1474402474
|
|
NM_152564.5(VPS13B):c.3327C>T (p.Ser1109=)
|
rs2133440777
|
|
NM_152564.5(VPS13B):c.332G>A (p.Ser111Asn)
|
rs1846417432
|
|
NM_152564.5(VPS13B):c.332G>T (p.Ser111Ile)
|
|
|
NM_152564.5(VPS13B):c.3330G>T (p.Met1110Ile)
|
rs773628960
|
|
NM_152564.5(VPS13B):c.3336A>G (p.Gly1112=)
|
rs751695118
|
|
NM_152564.5(VPS13B):c.3339A>G (p.Thr1113=)
|
rs961797247
|
|
NM_152564.5(VPS13B):c.333T>C (p.Ser111=)
|
rs2132431523
|
|
NM_152564.5(VPS13B):c.3341T>C (p.Leu1114Pro)
|
rs1817725649
|
|
NM_152564.5(VPS13B):c.3342T>A (p.Leu1114=)
|
|
|
NM_152564.5(VPS13B):c.3345C>G (p.Val1115=)
|
|
|
NM_152564.5(VPS13B):c.3345C>T (p.Val1115=)
|
rs2133440823
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs)
|
rs1554793521
|
|
NM_152564.5(VPS13B):c.3351T>C (p.Cys1117=)
|
|
|
NM_152564.5(VPS13B):c.3354G>T (p.Leu1118Phe)
|
rs1817726307
|
|
NM_152564.5(VPS13B):c.335C>A (p.Thr112Asn)
|
rs1184653913
|
|
NM_152564.5(VPS13B):c.3360A>G (p.Gln1120=)
|
|
|
NM_152564.5(VPS13B):c.3372T>G (p.Ile1124Met)
|
rs1292302782
|
|
NM_152564.5(VPS13B):c.3375T>G (p.Ser1125Arg)
|
|
|
NM_152564.5(VPS13B):c.3376G>A (p.Ala1126Thr)
|
rs1817727523
|
|
NM_152564.5(VPS13B):c.3382C>A (p.His1128Asn)
|
rs1563732631
|
|
NM_152564.5(VPS13B):c.3384C>T (p.His1128=)
|
|
|
NM_152564.5(VPS13B):c.3390T>A (p.Tyr1130Ter)
|
|
|
NM_152564.5(VPS13B):c.3394G>T (p.Glu1132Ter)
|
|
|
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser)
|
rs781781537
|
|
NM_152564.5(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del)
|
rs1554793589
|
|
NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys)
|
rs199902569
|
|
NM_152564.5(VPS13B):c.3414A>G (p.Pro1138=)
|
|
|
NM_152564.5(VPS13B):c.3414A>T (p.Pro1138=)
|
|
|
NM_152564.5(VPS13B):c.3423C>A (p.Ile1141=)
|
|
|
NM_152564.5(VPS13B):c.3423C>T (p.Ile1141=)
|
rs1180404619
|
|
NM_152564.5(VPS13B):c.3426A>C (p.Pro1142=)
|
|
|
NM_152564.5(VPS13B):c.3429A>G (p.Arg1143=)
|
rs1817730016
|
|
NM_152564.5(VPS13B):c.3434T>C (p.Ile1145Thr)
|
|
|
NM_152564.5(VPS13B):c.3438T>A (p.Leu1146=)
|
|
|
NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter)
|
|
|
NM_152564.5(VPS13B):c.3443A>G (p.Glu1148Gly)
|
|
|
NM_152564.5(VPS13B):c.3444A>C (p.Glu1148Asp)
|
|
|
NM_152564.5(VPS13B):c.3445+11A>C
|
|
|
NM_152564.5(VPS13B):c.3445+11A>T
|
|
|
NM_152564.5(VPS13B):c.3445+14T>A
|
|
|
NM_152564.5(VPS13B):c.3445+1G>T
|
rs1034855385
|
|
NM_152564.5(VPS13B):c.3445+20dup
|
|
|
NM_152564.5(VPS13B):c.3445+2T>A
|
|
|
NM_152564.5(VPS13B):c.3445+3A>T
|
rs775461539
|
|
NM_152564.5(VPS13B):c.3445+7G>A
|
rs2133441083
|
|
NM_152564.5(VPS13B):c.3445+7_3445+9dup
|
rs1335342521
|
|
NM_152564.5(VPS13B):c.3446-10C>T
|
|
|
NM_152564.5(VPS13B):c.3446-11C>A
|
|
|
NM_152564.5(VPS13B):c.3446-11C>T
|
rs749898086
|
|
NM_152564.5(VPS13B):c.3446-12C>G
|
|
|
NM_152564.5(VPS13B):c.3446-17T>G
|
|
|
NM_152564.5(VPS13B):c.3446-19C>T
|
rs2133510590
|
|
NM_152564.5(VPS13B):c.3446-1G>A
|
|
|
NM_152564.5(VPS13B):c.3446-23T>G
|
rs2133510569
|
|
NM_152564.5(VPS13B):c.3446-382_3463del
|
rs1588410519
|
|
NM_152564.5(VPS13B):c.3446-6T>A
|
rs371720857
|
|
NM_152564.5(VPS13B):c.3446-7A>G
|
rs1286759524
|
|
NM_152564.5(VPS13B):c.3446-8T>C
|
rs2133510634
|
|
NM_152564.5(VPS13B):c.3446-9C>G
|
|
|
NM_152564.5(VPS13B):c.3446-9C>T
|
|
|
NM_152564.5(VPS13B):c.3450T>C (p.Asp1150=)
|
|
|
NM_152564.5(VPS13B):c.3461G>A (p.Trp1154Ter)
|
rs2133510708
|
|
NM_152564.5(VPS13B):c.3482T>G (p.Phe1161Cys)
|
rs1563746308
|
|
NM_152564.5(VPS13B):c.3489A>G (p.Ile1163Met)
|
|
|
NM_152564.5(VPS13B):c.3490T>C (p.Tyr1164His)
|
|
|
NM_152564.5(VPS13B):c.3492_3493dup (p.Thr1165fs)
|
rs2133510772
|
|
NM_152564.5(VPS13B):c.3496del (p.Leu1166fs)
|
|
|
NM_152564.5(VPS13B):c.3501_3502insAA (p.Gly1168fs)
|
|
|
NM_152564.5(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys)
|
rs1554806874
|
|
NM_152564.5(VPS13B):c.3504A>G (p.Gly1168=)
|
rs2133510852
|
|
NM_152564.5(VPS13B):c.3512T>G (p.Val1171Gly)
|
rs771030813
|
|
NM_152564.5(VPS13B):c.3516A>C (p.Thr1172=)
|
|
|
NM_152564.5(VPS13B):c.351A>G (p.Lys117=)
|
|
|
NM_152564.5(VPS13B):c.3521G>A (p.Cys1174Tyr)
|
rs1819171069
|
|
NM_152564.5(VPS13B):c.3522C>A (p.Cys1174Ter)
|
|
|
NM_152564.5(VPS13B):c.3535A>T (p.Met1179Leu)
|
rs764040349
|
|
NM_152564.5(VPS13B):c.3536T>G (p.Met1179Arg)
|
|
|
NM_152564.5(VPS13B):c.3538G>A (p.Gly1180Ser)
|
rs995313030
|
|
NM_152564.5(VPS13B):c.3546C>G (p.Thr1182=)
|
rs2133511066
|
|
NM_152564.5(VPS13B):c.3546C>T (p.Thr1182=)
|
rs2133511066
|
|
NM_152564.5(VPS13B):c.3551C>G (p.Thr1184Ser)
|
rs2133511087
|
|
NM_152564.5(VPS13B):c.3554_3555dup (p.Ala1186Ter)
|
|
|
NM_152564.5(VPS13B):c.3561C>G (p.Val1187=)
|
|
|
NM_152564.5(VPS13B):c.3564G>T (p.Thr1188=)
|
rs140905518
|
|
NM_152564.5(VPS13B):c.3573A>G (p.Lys1191=)
|
|
|
NM_152564.5(VPS13B):c.3578T>C (p.Leu1193Pro)
|
rs1160968830
|
|
NM_152564.5(VPS13B):c.3578T>G (p.Leu1193Arg)
|
rs1160968830
|
|
NM_152564.5(VPS13B):c.3579del (p.Ala1194fs)
|
|
|
NM_152564.5(VPS13B):c.3585G>A (p.Thr1195=)
|
|
|
NM_152564.5(VPS13B):c.3585G>T (p.Thr1195=)
|
rs749614140
|
|
NM_152564.5(VPS13B):c.3587G>T (p.Gly1196Val)
|
rs2133511258
|
|
NM_152564.5(VPS13B):c.3588A>G (p.Gly1196=)
|
|
|
NM_152564.5(VPS13B):c.3591T>A (p.Pro1197=)
|
|
|
NM_152564.5(VPS13B):c.3597A>C (p.Thr1199=)
|
rs1819177226
|
|
NM_152564.5(VPS13B):c.3599G>A (p.Arg1200Gln)
|
|
|
NM_152564.5(VPS13B):c.3600A>G (p.Arg1200=)
|
rs2133511324
|
|
NM_152564.5(VPS13B):c.3606A>G (p.Ser1202=)
|
rs369539973
|
|
NM_152564.5(VPS13B):c.3612T>C (p.Val1204=)
|
rs1234050115
|
|
NM_152564.5(VPS13B):c.3618T>A (p.Cys1206Ter)
|
rs386834081
|
|
NM_152564.5(VPS13B):c.3618T>C (p.Cys1206=)
|
rs386834081
|
|
NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr)
|
rs145417421
|
|
NM_152564.5(VPS13B):c.3630C>T (p.Asp1210=)
|
|
|
NM_152564.5(VPS13B):c.3639A>G (p.Ser1213=)
|
|
|
NM_152564.5(VPS13B):c.363A>T (p.Lys121Asn)
|
|
|
NM_152564.5(VPS13B):c.3645G>A (p.Glu1215=)
|
rs751086826
|
|
NM_152564.5(VPS13B):c.3650A>T (p.Lys1217Ile)
|
rs138000928
|
|
NM_152564.5(VPS13B):c.3653G>T (p.Cys1218Phe)
|
|
|
NM_152564.5(VPS13B):c.3657T>C (p.Ser1219=)
|
|
|
NM_152564.5(VPS13B):c.3660T>C (p.Asn1220=)
|
rs2133511479
|
|
NM_152564.5(VPS13B):c.3662C>T (p.Pro1221Leu)
|
rs757707584
|
|
NM_152564.5(VPS13B):c.3663C>A (p.Pro1221=)
|
|
|
NM_152564.5(VPS13B):c.3663C>T (p.Pro1221=)
|
|
|
NM_152564.5(VPS13B):c.3664C>T (p.Gln1222Ter)
|
rs2133511511
|
|
NM_152564.5(VPS13B):c.3666+13G>C
|
|
|
NM_152564.5(VPS13B):c.3666+13G>T
|
|
|
NM_152564.5(VPS13B):c.3666+1G>T
|
rs1554807146
|
|
NM_152564.5(VPS13B):c.3666+2T>A
|
rs386834082
|
|
NM_152564.5(VPS13B):c.3666+2T>C
|
rs386834082
|
|
NM_152564.5(VPS13B):c.3666+8C>T
|
|
|
NM_152564.5(VPS13B):c.3666+9A>C
|
|
|
NM_152564.5(VPS13B):c.3667-10A>G
|
rs762331645
|
|
NM_152564.5(VPS13B):c.3667-13_3667-11del
|
|
|
NM_152564.5(VPS13B):c.3667-14dup
|
|
|
NM_152564.5(VPS13B):c.3667-16T>C
|
|
|
NM_152564.5(VPS13B):c.3667-1G>A
|
rs750609612
|
|
NM_152564.5(VPS13B):c.3667-5C>G
|
rs886062540
|
|
NM_152564.5(VPS13B):c.3667-5C>T
|
rs886062540
|
|
NM_152564.5(VPS13B):c.3669C>G (p.Val1223=)
|
rs143905569
|
|
NM_152564.5(VPS13B):c.3669C>T (p.Val1223=)
|
|
|
NM_152564.5(VPS13B):c.3674T>G (p.Leu1225Arg)
|
|
|
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter)
|
rs1554814266
|
|
NM_152564.5(VPS13B):c.3682G>T (p.Glu1228Ter)
|
|
|
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs)
|
rs1554814271
|
|
NM_152564.5(VPS13B):c.368G>A (p.Arg123Gln)
|
|
|
NM_152564.5(VPS13B):c.3691G>T (p.Asp1231Tyr)
|
rs2133556147
|
|
NM_152564.5(VPS13B):c.3695T>C (p.Ile1232Thr)
|
|
|
NM_152564.5(VPS13B):c.3697A>G (p.Met1233Val)
|
|
|
NM_152564.5(VPS13B):c.36C>T (p.Ser12=)
|
|
|
NM_152564.5(VPS13B):c.3701del (p.Asn1234fs)
|
rs1820043726
|
|
NM_152564.5(VPS13B):c.3705G>A (p.Lys1235=)
|
|
|
NM_152564.5(VPS13B):c.3719T>C (p.Ile1240Thr)
|
|
|
NM_152564.5(VPS13B):c.3723G>A (p.Gln1241=)
|
|
|
NM_152564.5(VPS13B):c.3726G>A (p.Lys1242=)
|
|
|
NM_152564.5(VPS13B):c.372A>G (p.Arg124=)
|
rs752604752
|
|
NM_152564.5(VPS13B):c.3734A>G (p.Asn1245Ser)
|
|
|
NM_152564.5(VPS13B):c.3738C>G (p.Leu1246=)
|
rs1465822174
|
|
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val)
|
rs562686924
|
|
NM_152564.5(VPS13B):c.3746C>G (p.Ser1249Cys)
|
|
|
NM_152564.5(VPS13B):c.3751A>C (p.Thr1251Pro)
|
rs184693266
|
|
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser)
|
rs184693266
|
|
NM_152564.5(VPS13B):c.3753C>T (p.Thr1251=)
|
|
|
NM_152564.5(VPS13B):c.3759A>G (p.Pro1253=)
|
rs766690954
|
|
NM_152564.5(VPS13B):c.3765C>T (p.Thr1255=)
|
|
|
NM_152564.5(VPS13B):c.3767T>G (p.Met1256Arg)
|
|
|
NM_152564.5(VPS13B):c.3768G>A (p.Met1256Ile)
|
rs1820047097
|
|
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter)
|
rs1057516422
|
|
NM_152564.5(VPS13B):c.3771A>G (p.Ala1257=)
|
rs2133556390
|
|
NM_152564.5(VPS13B):c.3773G>A (p.Gly1258Glu)
|
|
|
NM_152564.5(VPS13B):c.3774G>A (p.Gly1258=)
|
rs867311125
|
|
NM_152564.5(VPS13B):c.3774G>T (p.Gly1258=)
|
|
|
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs)
|
rs753645306
|
|
NM_152564.5(VPS13B):c.3789T>C (p.Ser1263=)
|
|
|
NM_152564.5(VPS13B):c.3790C>T (p.Pro1264Ser)
|
rs527263178
|
|
NM_152564.5(VPS13B):c.3800G>A (p.Ser1267Asn)
|
|
|
NM_152564.5(VPS13B):c.3801C>T (p.Ser1267=)
|
|
|
NM_152564.5(VPS13B):c.3802A>T (p.Ser1268Cys)
|
rs1820049229
|
|
NM_152564.5(VPS13B):c.380A>G (p.Gln127Arg)
|
rs2132431749
|
|
NM_152564.5(VPS13B):c.3816T>A (p.Ala1272=)
|
|
|
NM_152564.5(VPS13B):c.3816T>C (p.Ala1272=)
|
|
|
NM_152564.5(VPS13B):c.3816T>G (p.Ala1272=)
|
|
|
NM_152564.5(VPS13B):c.3820C>A (p.Pro1274Thr)
|
|
|
NM_152564.5(VPS13B):c.3822A>G (p.Pro1274=)
|
|
|
NM_152564.5(VPS13B):c.3828C>T (p.Thr1276=)
|
rs2133556534
|
|
NM_152564.5(VPS13B):c.382G>A (p.Ala128Thr)
|
|
|
NM_152564.5(VPS13B):c.3831C>T (p.Ser1277=)
|
rs1183777904
|
|
NM_152564.5(VPS13B):c.3832A>C (p.Thr1278Pro)
|
rs1820050200
|
|
NM_152564.5(VPS13B):c.3839G>T (p.Ser1280Ile)
|
rs1441125749
|
|
NM_152564.5(VPS13B):c.3852C>T (p.Asp1284=)
|
|
|
NM_152564.5(VPS13B):c.3858G>A (p.Gly1286=)
|
|
|
NM_152564.5(VPS13B):c.3860C>G (p.Thr1287Ser)
|
rs966120122
|
|
NM_152564.5(VPS13B):c.3861T>G (p.Thr1287=)
|
rs2133556617
|
|
NM_152564.5(VPS13B):c.3862A>G (p.Thr1288Ala)
|
rs1820051985
|
|
NM_152564.5(VPS13B):c.3870+18dup
|
|
|
NM_152564.5(VPS13B):c.3870+1G>A
|
rs764225649
|
|
NM_152564.5(VPS13B):c.3870+1G>T
|
rs764225649
|
|
NM_152564.5(VPS13B):c.3870+20C>G
|
|
|
NM_152564.5(VPS13B):c.3871-10C>T
|
rs1210475186
|
|
NM_152564.5(VPS13B):c.3871-11C>A
|
|
|
NM_152564.5(VPS13B):c.3871-11C>G
|
|
|
NM_152564.5(VPS13B):c.3871-12T>C
|
|
|
NM_152564.5(VPS13B):c.3871-13dup
|
|
|
NM_152564.5(VPS13B):c.3871-14T>C
|
|
|
NM_152564.5(VPS13B):c.3871-17T>C
|
|
|
NM_152564.5(VPS13B):c.3871-5C>A
|
|
|
NM_152564.5(VPS13B):c.3871-7A>G
|
rs1425649545
|
|
NM_152564.5(VPS13B):c.3871G>A (p.Gly1291Arg)
|
rs1821241143
|
|
NM_152564.5(VPS13B):c.3874G>A (p.Asp1292Asn)
|
|
|
NM_152564.5(VPS13B):c.3880A>G (p.Ile1294Val)
|
|
|
NM_152564.5(VPS13B):c.3881_3882del (p.Ile1294fs)
|
rs2133609624
|
|
NM_152564.5(VPS13B):c.3882A>G (p.Ile1294Met)
|
rs957432577
|
|
NM_152564.5(VPS13B):c.3891T>A (p.Gly1297=)
|
rs1402449887
|
|
NM_152564.5(VPS13B):c.3891T>G (p.Gly1297=)
|
rs1402449887
|
|
NM_152564.5(VPS13B):c.3897A>G (p.Glu1299=)
|
|
|
NM_152564.5(VPS13B):c.3900A>G (p.Ser1300=)
|
rs2133609681
|
|
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs)
|
rs1057516653
|
|
NM_152564.5(VPS13B):c.3903A>G (p.Pro1301=)
|
|
|
NM_152564.5(VPS13B):c.3909A>G (p.Ser1303=)
|
|
|
NM_152564.5(VPS13B):c.3937A>C (p.Ser1313Arg)
|
|
|
NM_152564.5(VPS13B):c.3938G>A (p.Ser1313Asn)
|
|
|
NM_152564.5(VPS13B):c.3957T>A (p.Ser1319Arg)
|
rs1821244952
|
|
NM_152564.5(VPS13B):c.3959G>A (p.Gly1320Glu)
|
|
|
NM_152564.5(VPS13B):c.3960A>G (p.Gly1320=)
|
|
|
NM_152564.5(VPS13B):c.3961C>T (p.Arg1321Cys)
|
|
|
NM_152564.5(VPS13B):c.3972A>G (p.Leu1324=)
|
|
|
NM_152564.5(VPS13B):c.3974G>A (p.Trp1325Ter)
|
rs2133609831
|
|
NM_152564.5(VPS13B):c.3981G>A (p.Gln1327=)
|
rs1588442639
|
|
NM_152564.5(VPS13B):c.3987G>A (p.Val1329=)
|
|
|
NM_152564.5(VPS13B):c.3993C>G (p.Pro1331=)
|
|
|
NM_152564.5(VPS13B):c.3999del (p.Thr1334fs)
|
|
|
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile)
|
rs1060499779
|
|
NM_152564.5(VPS13B):c.4006_4007insTT (p.Lys1336fs)
|
|
|
NM_152564.5(VPS13B):c.4023T>C (p.Asp1341=)
|
|
|
NM_152564.5(VPS13B):c.4026T>C (p.Pro1342=)
|
|
|
NM_152564.5(VPS13B):c.4032T>G (p.Asn1344Lys)
|
|
|
NM_152564.5(VPS13B):c.4034A>G (p.Lys1345Arg)
|
|
|
NM_152564.5(VPS13B):c.4038C>T (p.Gly1346=)
|
|
|
NM_152564.5(VPS13B):c.4042+11C>G
|
|
|
NM_152564.5(VPS13B):c.4042+15T>C
|
rs2133609969
|
|
NM_152564.5(VPS13B):c.4042+20_4042+23del
|
|
|
NM_152564.5(VPS13B):c.4042+2T>C
|
rs1554822819
|
|
NM_152564.5(VPS13B):c.4043-20C>T
|
|
|
NM_152564.5(VPS13B):c.4043-4G>A
|
|
|
NM_152564.5(VPS13B):c.4043-9T>C
|
|
|
NM_152564.5(VPS13B):c.4047T>G (p.Val1349=)
|
rs1004879836
|
|
NM_152564.5(VPS13B):c.404dup (p.Leu135fs)
|
rs386834083
|
|
NM_152564.5(VPS13B):c.4050_4053del (p.Cys1350fs)
|
rs1821315647
|
|
NM_152564.5(VPS13B):c.4053G>C (p.Met1351Ile)
|
rs1821315903
|
|
NM_152564.5(VPS13B):c.4056C>T (p.Val1352=)
|
|
|
NM_152564.5(VPS13B):c.405A>G (p.Leu135=)
|
rs2132431834
|
|
NM_152564.5(VPS13B):c.4060G>A (p.Glu1354Lys)
|
rs2133613311
|
|
NM_152564.5(VPS13B):c.4065A>G (p.Leu1355=)
|
rs755818465
|
|
NM_152564.5(VPS13B):c.4076G>A (p.Ser1359Asn)
|
|
|
NM_152564.5(VPS13B):c.4077T>C (p.Ser1359=)
|
|
|
NM_152564.5(VPS13B):c.4079C>T (p.Ala1360Val)
|
|
|
NM_152564.5(VPS13B):c.4080T>A (p.Ala1360=)
|
rs758803331
|
|
NM_152564.5(VPS13B):c.4080T>C (p.Ala1360=)
|
rs758803331
|
|
NM_152564.5(VPS13B):c.4083C>T (p.Ser1361=)
|
|
|
NM_152564.5(VPS13B):c.4084A>G (p.Ile1362Val)
|
rs1230385293
|
|
NM_152564.5(VPS13B):c.4113G>A (p.Val1371=)
|
rs769085208
|
|
NM_152564.5(VPS13B):c.4113G>T (p.Val1371=)
|
rs769085208
|
|
NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter)
|
|
|
NM_152564.5(VPS13B):c.412+18C>A
|
|
|
NM_152564.5(VPS13B):c.412+1G>A
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.412+1G>C
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.412+1G>T
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.412+20A>G
|
|
|
NM_152564.5(VPS13B):c.412+2T>C
|
|
|
NM_152564.5(VPS13B):c.413-10T>C
|
rs897984303
|
|
NM_152564.5(VPS13B):c.413-11del
|
|
|
NM_152564.5(VPS13B):c.413-12del
|
|
|
NM_152564.5(VPS13B):c.413-12dup
|
|
|
NM_152564.5(VPS13B):c.413-15T>A
|
|
|
NM_152564.5(VPS13B):c.413-18T>C
|
|
|
NM_152564.5(VPS13B):c.413-19C>A
|
|
|
NM_152564.5(VPS13B):c.413-19_413-18del
|
|
|
NM_152564.5(VPS13B):c.413-19del
|
|
|
NM_152564.5(VPS13B):c.413-2A>G
|
rs2132453775
|
|
NM_152564.5(VPS13B):c.413-5T>C
|
rs1846839473
|
|
NM_152564.5(VPS13B):c.413-9A>G
|
rs2132453724
|
|
NM_152564.5(VPS13B):c.4130G>T (p.Ser1377Ile)
|
rs2133613470
|
|
NM_152564.5(VPS13B):c.4136A>G (p.Asn1379Ser)
|
|
|
NM_152564.5(VPS13B):c.4137T>C (p.Asn1379=)
|
rs1821319108
|
|
NM_152564.5(VPS13B):c.4147T>C (p.Tyr1383His)
|
|
|
NM_152564.5(VPS13B):c.4149T>C (p.Tyr1383=)
|
|
|
NM_152564.5(VPS13B):c.4151G>T (p.Arg1384Ile)
|
|
|
NM_152564.5(VPS13B):c.4153A>G (p.Ser1385Gly)
|
|
|
NM_152564.5(VPS13B):c.4157+15A>C
|
|
|
NM_152564.5(VPS13B):c.4157+15A>G
|
|
|
NM_152564.5(VPS13B):c.4157+15_4157+21del
|
|
|
NM_152564.5(VPS13B):c.4157+16T>C
|
rs1307808618
|
|
NM_152564.5(VPS13B):c.4157+19A>T
|
|
|
NM_152564.5(VPS13B):c.4157+2T>G
|
|
|
NM_152564.5(VPS13B):c.4157+9T>C
|
|
|
NM_152564.5(VPS13B):c.4158-16A>C
|
rs1554824637
|
|
NM_152564.5(VPS13B):c.4158G>A (p.Arg1386=)
|
rs1554824647
|
|
NM_152564.5(VPS13B):c.4159C>A (p.Pro1387Thr)
|
rs1554824649
|
|
NM_152564.5(VPS13B):c.4196T>C (p.Val1399Ala)
|
rs1554824675
|
|
NM_152564.5(VPS13B):c.420G>A (p.Val140=)
|
rs1379154568
|
|
NM_152564.5(VPS13B):c.420G>T (p.Val140=)
|
rs1379154568
|
|
NM_152564.5(VPS13B):c.4218_4222dup (p.Val1408fs)
|
rs1554824678
|
|
NM_152564.5(VPS13B):c.4224+1G>C
|
rs376982982
|
|
NM_152564.5(VPS13B):c.4224+548T>G
|
|
|
NM_152564.5(VPS13B):c.4224+556A>G
|
rs1554824890
|
|
NM_152564.5(VPS13B):c.4224+620_4224+622del
|
|
|
NM_152564.5(VPS13B):c.4224+664A>G
|
rs1821583064
|
|
NM_152564.5(VPS13B):c.4224+713G>T
|
|
|
NM_152564.5(VPS13B):c.4224+715A>C
|
|
|
NM_152564.5(VPS13B):c.4224+716A>G
|
|
|
NM_152564.5(VPS13B):c.4224+719A>G
|
|
|
NM_152564.5(VPS13B):c.4224+720C>T
|
|
|
NM_152564.5(VPS13B):c.4224+725A>T
|
rs1554825046
|
|
NM_152564.5(VPS13B):c.4225-1G>A
|
rs2133637043
|
|
NM_152564.5(VPS13B):c.4225-9T>C
|
|
|
NM_152564.5(VPS13B):c.4230T>C (p.Thr1410=)
|
|
|
NM_152564.5(VPS13B):c.423G>A (p.Gln141=)
|
|
|
NM_152564.5(VPS13B):c.4241T>C (p.Leu1414Pro)
|
|
|
NM_152564.5(VPS13B):c.4245T>C (p.Asp1415=)
|
|
|
NM_152564.5(VPS13B):c.4245_4247dup (p.Gly1416_Thr1417insGly)
|
|
|
NM_152564.5(VPS13B):c.4248C>T (p.Gly1416=)
|
|
|
NM_152564.5(VPS13B):c.424A>G (p.Ser142Gly)
|
rs2132453819
|
|
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs)
|
rs1057517076
|
|
NM_152564.5(VPS13B):c.4256A>G (p.Gln1419Arg)
|
rs1189900037
|
|
NM_152564.5(VPS13B):c.4259A>G (p.Gln1420Arg)
|
|
|
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs)
|
rs386834084
|
|
NM_152564.5(VPS13B):c.4261C>T (p.His1421Tyr)
|
|
|
NM_152564.5(VPS13B):c.4262A>T (p.His1421Leu)
|
rs371961155
|
|
NM_152564.5(VPS13B):c.4267_4273del (p.Phe1423fs)
|
|
|
NM_152564.5(VPS13B):c.4272C>A (p.Leu1424=)
|
|
|
NM_152564.5(VPS13B):c.4276C>T (p.Leu1426=)
|
|
|
NM_152564.5(VPS13B):c.4278G>A (p.Leu1426=)
|
rs2133637215
|
|
NM_152564.5(VPS13B):c.4281A>G (p.Thr1427=)
|
rs2133637227
|
|
NM_152564.5(VPS13B):c.4282T>C (p.Tyr1428His)
|
rs2133637231
|
|
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs)
|
rs2133637251
|
|
NM_152564.5(VPS13B):c.4293T>G (p.Ala1431=)
|
rs777067859
|
|
NM_152564.5(VPS13B):c.4296A>G (p.Val1432=)
|
|
|
NM_152564.5(VPS13B):c.4302A>G (p.Lys1434=)
|
|
|
NM_152564.5(VPS13B):c.4302_4304dup (p.Lys1434dup)
|
rs1297058561
|
|
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
|
|
|
NM_152564.5(VPS13B):c.4305T>C (p.Asn1435=)
|
rs2133637292
|
|
NM_152564.5(VPS13B):c.4309C>T (p.Arg1437Cys)
|
|
|
NM_152564.5(VPS13B):c.4310G>T (p.Arg1437Leu)
|
rs750810791
|
|
NM_152564.5(VPS13B):c.4317G>A (p.Lys1439=)
|
|
|
NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter)
|
|
|
NM_152564.5(VPS13B):c.4320A>G (p.Leu1440=)
|
rs2133637329
|
|
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs)
|
rs386834085
|
|
NM_152564.5(VPS13B):c.4334A>T (p.Glu1445Val)
|
rs2133637370
|
|
NM_152564.5(VPS13B):c.4335G>A (p.Glu1445=)
|
rs781336187
|
|
NM_152564.5(VPS13B):c.4336C>A (p.Arg1446=)
|
rs386834086
|
|
NM_152564.5(VPS13B):c.4337G>A (p.Arg1446Gln)
|
|
|
NM_152564.5(VPS13B):c.4348C>T (p.His1450Tyr)
|
|
|
NM_152564.5(VPS13B):c.4359T>C (p.Ser1453=)
|
rs1187402533
|
|
NM_152564.5(VPS13B):c.4362A>G (p.Glu1454=)
|
rs775013418
|
|
NM_152564.5(VPS13B):c.4362A>T (p.Glu1454Asp)
|
|
|
NM_152564.5(VPS13B):c.4365C>G (p.Gly1455=)
|
rs1287791786
|
|
NM_152564.5(VPS13B):c.4377T>C (p.Gly1459=)
|
rs773536381
|
|
NM_152564.5(VPS13B):c.4379CTC[1] (p.Pro1461del)
|
|
|
NM_152564.5(VPS13B):c.4381C>T (p.Pro1461Ser)
|
|
|
NM_152564.5(VPS13B):c.4385A>G (p.His1462Arg)
|
|
|
NM_152564.5(VPS13B):c.4389T>C (p.Phe1463=)
|
rs766779948
|
|
NM_152564.5(VPS13B):c.438A>G (p.Arg146=)
|
|
|
NM_152564.5(VPS13B):c.4394A>T (p.His1465Leu)
|
rs1588450228
|
|
NM_152564.5(VPS13B):c.4395T>A (p.His1465Gln)
|
|
|
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs)
|
rs386834087
|
|
NM_152564.5(VPS13B):c.4401T>C (p.Ile1467=)
|
|
|
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del)
|
rs386834088
|
|
NM_152564.5(VPS13B):c.4413A>G (p.Ala1471=)
|
|
|
NM_152564.5(VPS13B):c.4413del (p.Gln1472fs)
|
|
|
NM_152564.5(VPS13B):c.4420T>G (p.Phe1474Val)
|
rs1821776603
|
|
NM_152564.5(VPS13B):c.4424_4429del (p.Asp1475_Ile1476del)
|
rs1554826499
|
|
NM_152564.5(VPS13B):c.4434T>C (p.Leu1478=)
|
|
|
NM_152564.5(VPS13B):c.4440T>C (p.Phe1480=)
|
|
|
NM_152564.5(VPS13B):c.4441C>T (p.Pro1481Ser)
|
|
|
NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter)
|
|
|
NM_152564.5(VPS13B):c.4446A>G (p.Leu1482=)
|
rs2133637669
|
|
NM_152564.5(VPS13B):c.4464T>C (p.Ser1488=)
|
rs2133637727
|
|
NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter)
|
|
|
NM_152564.5(VPS13B):c.4485A>G (p.Pro1495=)
|
|
|
NM_152564.5(VPS13B):c.4489A>G (p.Thr1497Ala)
|
rs1374233787
|
|
NM_152564.5(VPS13B):c.4492C>G (p.Gln1498Glu)
|
|
|
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs)
|
rs386834089
|
|
NM_152564.5(VPS13B):c.4508A>G (p.Lys1503Arg)
|
|
|
NM_152564.5(VPS13B):c.4509A>G (p.Lys1503=)
|
|
|
NM_152564.5(VPS13B):c.4512T>C (p.Ser1504=)
|
|
|
NM_152564.5(VPS13B):c.4514C>T (p.Pro1505Leu)
|
|
|
NM_152564.5(VPS13B):c.4518T>G (p.Gly1506=)
|
|
|
NM_152564.5(VPS13B):c.4519C>A (p.Gln1507Lys)
|
rs1178400279
|
|
NM_152564.5(VPS13B):c.451G>A (p.Val151Ile)
|
rs772244398
|
|
NM_152564.5(VPS13B):c.4526T>C (p.Met1509Thr)
|
|
|
NM_152564.5(VPS13B):c.4528A>C (p.Arg1510=)
|
|
|
NM_152564.5(VPS13B):c.4529_4535dup (p.His1512fs)
|
rs2133637853
|
|
NM_152564.5(VPS13B):c.4530G>A (p.Arg1510=)
|
rs2133637865
|
|
NM_152564.5(VPS13B):c.4533C>T (p.Thr1511=)
|
rs2133637873
|
|
NM_152564.5(VPS13B):c.4535A>G (p.His1512Arg)
|
rs1821780332
|
|
NM_152564.5(VPS13B):c.4536T>C (p.His1512=)
|
rs2133637886
|
|
NM_152564.5(VPS13B):c.4538C>A (p.Thr1513Lys)
|
|
|
NM_152564.5(VPS13B):c.4539A>G (p.Thr1513=)
|
|
|
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs)
|
rs1554826566
|
|
NM_152564.5(VPS13B):c.4540C>T (p.Leu1514=)
|
|
|
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs)
|
rs1057518939
|
|
NM_152564.5(VPS13B):c.4548C>A (p.Ser1516=)
|
rs1821781006
|
|
NM_152564.5(VPS13B):c.4548C>T (p.Ser1516=)
|
|
|
NM_152564.5(VPS13B):c.4550G>A (p.Arg1517His)
|
|
|
NM_152564.5(VPS13B):c.4551C>T (p.Arg1517=)
|
rs150376603
|
|
NM_152564.5(VPS13B):c.4552A>C (p.Asn1518His)
|
|
|
NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter)
|
|
|
NM_152564.5(VPS13B):c.4558C>T (p.Pro1520Ser)
|
rs1821781864
|
|
NM_152564.5(VPS13B):c.4560T>C (p.Pro1520=)
|
rs2133638000
|
|
NM_152564.5(VPS13B):c.4569T>C (p.Tyr1523=)
|
rs1361356353
|
|
NM_152564.5(VPS13B):c.456C>T (p.Asn152=)
|
|
|
NM_152564.5(VPS13B):c.4584A>G (p.Val1528=)
|
rs1443868978
|
|
NM_152564.5(VPS13B):c.4596T>G (p.Phe1532Leu)
|
rs1198827619
|
|
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs)
|
rs1554826615
|
|
NM_152564.5(VPS13B):c.4615A>G (p.Met1539Val)
|
rs2133638135
|
|
NM_152564.5(VPS13B):c.4616T>C (p.Met1539Thr)
|
rs1821784819
|
|
NM_152564.5(VPS13B):c.4620G>A (p.Gln1540=)
|
|
|
NM_152564.5(VPS13B):c.4628T>C (p.Val1543Ala)
|
|
|
NM_152564.5(VPS13B):c.4631A>G (p.Glu1544Gly)
|
|
|
NM_152564.5(VPS13B):c.4632A>C (p.Glu1544Asp)
|
|
|
NM_152564.5(VPS13B):c.4633+13G>T
|
rs771515364
|
|
NM_152564.5(VPS13B):c.4633+14A>T
|
|
|
NM_152564.5(VPS13B):c.4633+1G>A
|
|
|
NM_152564.5(VPS13B):c.4633+22del
|
rs756149542
|
|
NM_152564.5(VPS13B):c.4633+22dup
|
rs756149542
|
|
NM_152564.5(VPS13B):c.4633+4T>C
|
rs1384867213
|
|
NM_152564.5(VPS13B):c.4633+7T>A
|
|
|
NM_152564.5(VPS13B):c.4633+7T>G
|
rs1821787119
|
|
NM_152564.5(VPS13B):c.4634-10T>C
|
rs2133668051
|
|
NM_152564.5(VPS13B):c.4634-18del
|
rs2133668025
|
|
NM_152564.5(VPS13B):c.4634-2A>G
|
rs2133668102
|
|
NM_152564.5(VPS13B):c.4634-9T>C
|
rs2133668059
|
|
NM_152564.5(VPS13B):c.4634C>G (p.Ala1545Gly)
|
rs1319725217
|
|
NM_152564.5(VPS13B):c.4640A>G (p.Gln1547Arg)
|
rs2133668123
|
|
NM_152564.5(VPS13B):c.4641G>A (p.Gln1547=)
|
|
|
NM_152564.5(VPS13B):c.4646C>G (p.Ala1549Gly)
|
|
|
NM_152564.5(VPS13B):c.4647A>G (p.Ala1549=)
|
|
|
NM_152564.5(VPS13B):c.4647A>T (p.Ala1549=)
|
rs1822351966
|
|
NM_152564.5(VPS13B):c.4651G>T (p.Glu1551Ter)
|
|
|
NM_152564.5(VPS13B):c.4663G>T (p.Val1555Phe)
|
rs1822352324
|
|
NM_152564.5(VPS13B):c.4665T>G (p.Val1555=)
|
|
|
NM_152564.5(VPS13B):c.4671G>A (p.Lys1557=)
|
|
|
NM_152564.5(VPS13B):c.4674T>C (p.Ile1558=)
|
rs2133668264
|
|
NM_152564.5(VPS13B):c.4677C>T (p.Gly1559=)
|
|
|
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)
|
rs386834090
|
|
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val)
|
rs886062541
|
|
NM_152564.5(VPS13B):c.468_471del (p.Asn157fs)
|
rs1588038825
|
|
NM_152564.5(VPS13B):c.4690G>C (p.Ala1564Pro)
|
|
|
NM_152564.5(VPS13B):c.4692T>C (p.Ala1564=)
|
rs1219782050
|
|
NM_152564.5(VPS13B):c.4695C>T (p.Pro1565=)
|
rs2133668316
|
|
NM_152564.5(VPS13B):c.4698G>A (p.Gln1566=)
|
|
|
NM_152564.5(VPS13B):c.4701T>G (p.Ala1567=)
|
|
|
NM_152564.5(VPS13B):c.4704C>T (p.Asp1568=)
|
rs1030235559
|
|
NM_152564.5(VPS13B):c.4707T>C (p.Asn1569=)
|
|
|
NM_152564.5(VPS13B):c.4708C>G (p.Pro1570Ala)
|
rs1822354960
|
|
NM_152564.5(VPS13B):c.4716C>G (p.Gly1572=)
|
|
|
NM_152564.5(VPS13B):c.4717A>T (p.Arg1573Ter)
|
rs1822355402
|
|
NM_152564.5(VPS13B):c.4723G>A (p.Val1575Ile)
|
|
|
NM_152564.5(VPS13B):c.4728T>C (p.Leu1576=)
|
rs1158360713
|
|
NM_152564.5(VPS13B):c.4730G>T (p.Arg1577Met)
|
|
|
NM_152564.5(VPS13B):c.4740T>C (p.Ile1580=)
|
rs1402302415
|
|
NM_152564.5(VPS13B):c.4745+10T>C
|
|
|
NM_152564.5(VPS13B):c.4745+18T>A
|
|
|
NM_152564.5(VPS13B):c.4745+18T>C
|
|
|
NM_152564.5(VPS13B):c.4745+1G>C
|
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
NM_152564.5(VPS13B):c.4745+7T>G
|
|
|
NM_152564.5(VPS13B):c.4745+9A>G
|
|
|
NM_152564.5(VPS13B):c.4746-13G>A
|
rs561446691
|
|
NM_152564.5(VPS13B):c.4746-17T>A
|
|
|
NM_152564.5(VPS13B):c.4746-17T>C
|
|
|
NM_152564.5(VPS13B):c.4746-18T>C
|
|
|
NM_152564.5(VPS13B):c.4746-1G>T
|
rs768342041
|
|
NM_152564.5(VPS13B):c.4746-2A>T
|
rs1554843814
|
|
NM_152564.5(VPS13B):c.4746-3794A>C
|
|
|
NM_152564.5(VPS13B):c.4749A>C (p.Arg1583Ser)
|
rs1824571515
|
|
NM_152564.5(VPS13B):c.4752C>T (p.Ala1584=)
|
|
|
NM_152564.5(VPS13B):c.4755G>A (p.Leu1585=)
|
|
|
NM_152564.5(VPS13B):c.4756A>C (p.Asn1586His)
|
rs1824571709
|
|
NM_152564.5(VPS13B):c.4758C>T (p.Asn1586=)
|
rs1452358488
|
|
NM_152564.5(VPS13B):c.4761A>G (p.Leu1587=)
|
|
|
NM_152564.5(VPS13B):c.4767T>C (p.Ile1589=)
|
|
|
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)
|
rs752429062
|
|
NM_152564.5(VPS13B):c.4782A>T (p.Gly1594=)
|
rs2133764676
|
|
NM_152564.5(VPS13B):c.4791C>A (p.Ile1597=)
|
|
|
NM_152564.5(VPS13B):c.4801C>G (p.Gln1601Glu)
|
rs1241114776
|
|
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter)
|
rs180177359
|
|
NM_152564.5(VPS13B):c.4806C>T (p.Tyr1602=)
|
rs1355209169
|
|
NM_152564.5(VPS13B):c.4807C>T (p.Gln1603Ter)
|
rs2133764725
|
|
NM_152564.5(VPS13B):c.480A>G (p.Leu160=)
|
|
|
NM_152564.5(VPS13B):c.4812A>C (p.Ile1604=)
|
rs1824574633
|
|
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter)
|
rs1588491546
|
|
NM_152564.5(VPS13B):c.4821G>A (p.Gln1607=)
|
rs757495847
|
|
NM_152564.5(VPS13B):c.4827C>T (p.Ile1609=)
|
rs2133764753
|
|
NM_152564.5(VPS13B):c.4830T>C (p.Asn1610=)
|
rs1824575375
|
|
NM_152564.5(VPS13B):c.4831A>G (p.Ile1611Val)
|
rs1824575477
|
|
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn)
|
|
|
NM_152564.5(VPS13B):c.4836T>C (p.Gly1612=)
|
rs2133764786
|
|
NM_152564.5(VPS13B):c.4837A>G (p.Thr1613Ala)
|
|
|
NM_152564.5(VPS13B):c.483del (p.Lys161fs)
|
rs2132453991
|
|
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
NM_152564.5(VPS13B):c.4862C>T (p.Pro1621Leu)
|
rs1824576572
|
|
NM_152564.5(VPS13B):c.4866G>A (p.Glu1622=)
|
rs779914034
|
|
NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter)
|
|
|
NM_152564.5(VPS13B):c.4868A>C (p.Lys1623Thr)
|
rs1824576911
|
|
NM_152564.5(VPS13B):c.4868A>T (p.Lys1623Met)
|
|
|
NM_152564.5(VPS13B):c.4870G>A (p.Glu1624Lys)
|
|
|
NM_152564.5(VPS13B):c.4871A>G (p.Glu1624Gly)
|
|
|
NM_152564.5(VPS13B):c.4872A>G (p.Glu1624=)
|
|
|
NM_152564.5(VPS13B):c.4874G>T (p.Ser1625Ile)
|
rs1014154776
|
|
NM_152564.5(VPS13B):c.4875T>C (p.Ser1625=)
|
|
|
NM_152564.5(VPS13B):c.4876_4877del (p.Val1626fs)
|
rs1588491595
|
|
NM_152564.5(VPS13B):c.4878C>T (p.Val1626=)
|
rs1294342896
|
|
NM_152564.5(VPS13B):c.4881A>G (p.Ser1627=)
|
rs2133764883
|
|
NM_152564.5(VPS13B):c.4885G>A (p.Gly1629Arg)
|
|
|
NM_152564.5(VPS13B):c.4885G>C (p.Gly1629Arg)
|
rs776600965
|
|
NM_152564.5(VPS13B):c.4886G>C (p.Gly1629Ala)
|
|
|
NM_152564.5(VPS13B):c.4887G>A (p.Gly1629=)
|
rs747778744
|
|
NM_152564.5(VPS13B):c.4887G>T (p.Gly1629=)
|
rs747778744
|
|
NM_152564.5(VPS13B):c.4891G>A (p.Val1631Ile)
|
|
|
NM_152564.5(VPS13B):c.4893A>G (p.Val1631=)
|
|
|
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs)
|
rs1554843942
|
|
NM_152564.5(VPS13B):c.4895C>T (p.Thr1632Ile)
|
rs2133764957
|
|
NM_152564.5(VPS13B):c.4900A>G (p.Thr1634Ala)
|
|
|
NM_152564.5(VPS13B):c.4903G>T (p.Glu1635Ter)
|
|
|
NM_152564.5(VPS13B):c.4926C>G (p.Ala1642=)
|
|
|
NM_152564.5(VPS13B):c.4929T>C (p.Leu1643=)
|
|
|
NM_152564.5(VPS13B):c.4934G>A (p.Trp1645Ter)
|
|
|
NM_152564.5(VPS13B):c.4944C>T (p.Ala1648=)
|
|
|
NM_152564.5(VPS13B):c.4946_4947delinsAA (p.Ser1649Lys)
|
rs1824583703
|
|
NM_152564.5(VPS13B):c.4947C>T (p.Ser1649=)
|
rs985853073
|
|
NM_152564.5(VPS13B):c.4949+10G>T
|
rs1824585165
|
|
NM_152564.5(VPS13B):c.4949+12T>C
|
|
|
NM_152564.5(VPS13B):c.4949+14G>A
|
|
|
NM_152564.5(VPS13B):c.4949+2T>G
|
|
|
NM_152564.5(VPS13B):c.4949+3A>T
|
rs1824584392
|
|
NM_152564.5(VPS13B):c.4949+6_4949+19del
|
|
|
NM_152564.5(VPS13B):c.4950-10_4950-9insG
|
|
|
NM_152564.5(VPS13B):c.4950-1G>C
|
rs1554852945
|
|
NM_152564.5(VPS13B):c.4950-20T>C
|
|
|
NM_152564.5(VPS13B):c.4950-29G>A
|
|
|
NM_152564.5(VPS13B):c.4950-2A>G
|
|
|
NM_152564.5(VPS13B):c.4950-2dup
|
rs1554852944
|
|
NM_152564.5(VPS13B):c.4954C>T (p.Arg1652Trp)
|
|
|
NM_152564.5(VPS13B):c.4956G>T (p.Arg1652=)
|
|
|
NM_152564.5(VPS13B):c.4957C>T (p.Arg1653Trp)
|
|
|
NM_152564.5(VPS13B):c.4959G>A (p.Arg1653=)
|
rs182877520
|
|
NM_152564.5(VPS13B):c.4959G>T (p.Arg1653=)
|
rs182877520
|
|
NM_152564.5(VPS13B):c.4959del (p.His1654fs)
|
rs1166814614
|
|
NM_152564.5(VPS13B):c.4968A>G (p.Glu1656=)
|
rs2133808425
|
|
NM_152564.5(VPS13B):c.4970G>A (p.Arg1657Lys)
|
rs903367949
|
|
NM_152564.5(VPS13B):c.4971_4973del (p.Arg1658del)
|
rs770497996
|
|
NM_152564.5(VPS13B):c.4974A>G (p.Arg1658=)
|
rs2133808450
|
|
NM_152564.5(VPS13B):c.4975G>A (p.Ala1659Thr)
|
|
|
NM_152564.5(VPS13B):c.4981T>C (p.Leu1661=)
|
rs1825743811
|
|
NM_152564.5(VPS13B):c.4989C>G (p.Pro1663=)
|
|
|
NM_152564.5(VPS13B):c.4989C>T (p.Pro1663=)
|
rs142380266
|
|
NM_152564.5(VPS13B):c.4995G>A (p.Leu1665=)
|
|
|
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs)
|
rs2133808512
|
|
NM_152564.5(VPS13B):c.5001T>A (p.Asp1667Glu)
|
|
|
NM_152564.5(VPS13B):c.5001T>C (p.Asp1667=)
|
rs527950476
|
|
NM_152564.5(VPS13B):c.5010C>T (p.Val1670=)
|
rs2133808532
|
|
NM_152564.5(VPS13B):c.5022A>G (p.Gly1674=)
|
rs1270977455
|
|
NM_152564.5(VPS13B):c.5024C>T (p.Ala1675Val)
|
|
|
NM_152564.5(VPS13B):c.5025A>G (p.Ala1675=)
|
rs2133808577
|
|
NM_152564.5(VPS13B):c.5032G>A (p.Val1678Ile)
|
|
|
NM_152564.5(VPS13B):c.5043C>T (p.Thr1681=)
|
|
|
NM_152564.5(VPS13B):c.504C>A (p.Val168=)
|
|
|
NM_152564.5(VPS13B):c.504C>T (p.Val168=)
|
rs1417733025
|
|
NM_152564.5(VPS13B):c.5050G>A (p.Val1684Ile)
|
|
|
NM_152564.5(VPS13B):c.5052T>C (p.Val1684=)
|
|
|
NM_152564.5(VPS13B):c.505C>T (p.Leu169Phe)
|
rs376498106
|
|
NM_152564.5(VPS13B):c.5064T>A (p.Asn1688Lys)
|
|
|
NM_152564.5(VPS13B):c.5065T>A (p.Leu1689Met)
|
|
|
NM_152564.5(VPS13B):c.5075A>G (p.Glu1692Gly)
|
rs1588510428
|
|
NM_152564.5(VPS13B):c.5076+10T>C
|
rs2133808701
|
|
NM_152564.5(VPS13B):c.5076+11A>C
|
|
|
NM_152564.5(VPS13B):c.5076+12A>G
|
|
|
NM_152564.5(VPS13B):c.5076+13T>C
|
|
|
NM_152564.5(VPS13B):c.5076+1G>C
|
|
|
NM_152564.5(VPS13B):c.5076+1G>T
|
|
|
NM_152564.5(VPS13B):c.5076+20T>A
|
|
|
NM_152564.5(VPS13B):c.5076+20T>C
|
|
|
NM_152564.5(VPS13B):c.5076+22del
|
|
|
NM_152564.5(VPS13B):c.5076+3T>C
|
rs2133808668
|
|
NM_152564.5(VPS13B):c.5076+8C>A
|
|
|
NM_152564.5(VPS13B):c.5077-12T>C
|
|
|
NM_152564.5(VPS13B):c.5077-15C>T
|
|
|
NM_152564.5(VPS13B):c.5077-18C>T
|
|
|
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
|
|
|
NM_152564.5(VPS13B):c.5077-6C>G
|
|
|
NM_152564.5(VPS13B):c.5077-6C>T
|
|
|
NM_152564.5(VPS13B):c.5077-8del
|
|
|
NM_152564.5(VPS13B):c.507T>C (p.Leu169=)
|
|
|
NM_152564.5(VPS13B):c.5085A>G (p.Leu1695=)
|
|
|
NM_152564.5(VPS13B):c.5091_5092del (p.Cys1697fs)
|
|
|
NM_152564.5(VPS13B):c.5094C>A (p.Gly1698=)
|
rs2133811965
|
|
NM_152564.5(VPS13B):c.5095C>T (p.His1699Tyr)
|
rs765021203
|
|
NM_152564.5(VPS13B):c.5106A>G (p.Glu1702=)
|
|
|
NM_152564.5(VPS13B):c.5111A>G (p.Asn1704Ser)
|
rs1825833646
|
|
NM_152564.5(VPS13B):c.5112T>C (p.Asn1704=)
|
|
|
NM_152564.5(VPS13B):c.5124C>T (p.Asn1708=)
|
|
|
NM_152564.5(VPS13B):c.5126T>C (p.Leu1709Pro)
|
rs2133812014
|
|
NM_152564.5(VPS13B):c.5139A>C (p.Leu1713=)
|
|
|
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del)
|
rs180177362
|
|
NM_152564.5(VPS13B):c.5141G>A (p.Ser1714Asn)
|
|
|
NM_152564.5(VPS13B):c.5145G>A (p.Val1715=)
|
|
|
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs)
|
rs2133812056
|
|
NM_152564.5(VPS13B):c.5151A>G (p.Gln1717=)
|
|
|
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs)
|
rs1563806122
|
|
NM_152564.5(VPS13B):c.5154T>C (p.Val1718=)
|
rs1235245438
|
|
NM_152564.5(VPS13B):c.5154T>G (p.Val1718=)
|
rs1235245438
|
|
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)
|
rs1554853667
|
|
NM_152564.5(VPS13B):c.5160C>G (p.Leu1720=)
|
|
|
NM_152564.5(VPS13B):c.5163dup (p.His1722fs)
|
|
|
NM_152564.5(VPS13B):c.5165A>G (p.His1722Arg)
|
|
|
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs)
|
rs1554853676
|
|
NM_152564.5(VPS13B):c.516T>C (p.Asn172=)
|
|
|
NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer)
|
rs1434257397
|
|
NM_152564.5(VPS13B):c.5173A>G (p.Ile1725Val)
|
|
|
NM_152564.5(VPS13B):c.5184T>C (p.Asn1728=)
|
rs2133812127
|
|
NM_152564.5(VPS13B):c.5185A>G (p.Met1729Val)
|
rs1825837144
|
|
NM_152564.5(VPS13B):c.5190T>C (p.Thr1730=)
|
rs1454613781
|
|
NM_152564.5(VPS13B):c.5192G>A (p.Gly1731Glu)
|
|
|
NM_152564.5(VPS13B):c.5195T>C (p.Leu1732Pro)
|
rs1825837477
|
|
NM_152564.5(VPS13B):c.5197del (p.Glu1733fs)
|
|
|
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs)
|
|
|
NM_152564.5(VPS13B):c.5199A>G (p.Glu1733=)
|
|
|
NM_152564.5(VPS13B):c.5210A>G (p.Lys1737Arg)
|
|
|
NM_152564.5(VPS13B):c.5212G>C (p.Ala1738Pro)
|
rs572817378
|
|
NM_152564.5(VPS13B):c.5220+10A>G
|
rs1221192419
|
|
NM_152564.5(VPS13B):c.5220+12C>T
|
|
|
NM_152564.5(VPS13B):c.5220+12del
|
|
|
NM_152564.5(VPS13B):c.5220+14dup
|
rs1376069910
|
|
NM_152564.5(VPS13B):c.5220+16T>G
|
|
|
NM_152564.5(VPS13B):c.5220+17T>C
|
|
|
NM_152564.5(VPS13B):c.5220+18T>C
|
|
|
NM_152564.5(VPS13B):c.5220+20875C>A
|
|
|
NM_152564.5(VPS13B):c.5220+3_5220+5del
|
|
|
NM_152564.5(VPS13B):c.5221-13T>C
|
|
|
NM_152564.5(VPS13B):c.5221-15A>G
|
|
|
NM_152564.5(VPS13B):c.5221-15del
|
|
|
NM_152564.5(VPS13B):c.5221-17T>C
|
rs2133931320
|
|
NM_152564.5(VPS13B):c.5221-18A>G
|
|
|
NM_152564.5(VPS13B):c.5221-20T>G
|
|
|
NM_152564.5(VPS13B):c.5221-20_5221-16del
|
|
|
NM_152564.5(VPS13B):c.5221-24871G>T
|
rs944094510
|
|
NM_152564.5(VPS13B):c.5221-4A>G
|
rs2133931355
|
|
NM_152564.5(VPS13B):c.5221-6T>C
|
rs1829377717
|
|
NM_152564.5(VPS13B):c.5221-8dup
|
rs2133931327
|
|
NM_152564.5(VPS13B):c.5221A>T (p.Ile1741Phe)
|
|
|
NM_152564.5(VPS13B):c.5223C>T (p.Ile1741=)
|
|
|
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter)
|
rs1554884575
|
|
NM_152564.5(VPS13B):c.5232A>G (p.Gln1744=)
|
|
|
NM_152564.5(VPS13B):c.5233G>A (p.Glu1745Lys)
|
|
|
NM_152564.5(VPS13B):c.5233G>C (p.Glu1745Gln)
|
|
|
NM_152564.5(VPS13B):c.5233G>T (p.Glu1745Ter)
|
|
|
NM_152564.5(VPS13B):c.5234A>G (p.Glu1745Gly)
|
|
|
NM_152564.5(VPS13B):c.5235A>G (p.Glu1745=)
|
|
|
NM_152564.5(VPS13B):c.5244A>C (p.Lys1748Asn)
|
rs1481251396
|
|
NM_152564.5(VPS13B):c.5244A>G (p.Lys1748=)
|
|
|
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs)
|
rs752399634
|
|
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter)
|
rs386834094
|
|
NM_152564.5(VPS13B):c.5264G>C (p.Gly1755Ala)
|
rs1426875703
|
|
NM_152564.5(VPS13B):c.5264G>T (p.Gly1755Val)
|
|
|
NM_152564.5(VPS13B):c.5266A>G (p.Met1756Val)
|
|
|
NM_152564.5(VPS13B):c.5277C>A (p.Thr1759=)
|
rs920541973
|
|
NM_152564.5(VPS13B):c.5277C>G (p.Thr1759=)
|
|
|
NM_152564.5(VPS13B):c.5277C>T (p.Thr1759=)
|
|
|
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys)
|
rs780314338
|
|
NM_152564.5(VPS13B):c.5289C>T (p.Tyr1763=)
|
|
|
NM_152564.5(VPS13B):c.5313T>A (p.Ile1771=)
|
|
|
NM_152564.5(VPS13B):c.5326G>T (p.Val1776Phe)
|
rs547179338
|
|
NM_152564.5(VPS13B):c.5328T>C (p.Val1776=)
|
|
|
NM_152564.5(VPS13B):c.5331A>G (p.Lys1777=)
|
rs2133931540
|
|
NM_152564.5(VPS13B):c.5342dup (p.Gln1782fs)
|
rs1588579347
|
|
NM_152564.5(VPS13B):c.5347A>G (p.Ile1783Val)
|
rs2133931572
|
|
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs)
|
rs1829386213
|
|
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)
|
rs180177363
|
|
NM_152564.5(VPS13B):c.5354_5375del (p.Gln1785fs)
|
rs1829386577
|
|
NM_152564.5(VPS13B):c.5359A>G (p.Ser1787Gly)
|
rs905918713
|
|
NM_152564.5(VPS13B):c.5372A>T (p.Gln1791Leu)
|
rs2133931614
|
|
NM_152564.5(VPS13B):c.5373G>A (p.Gln1791=)
|
rs534024412
|
|
NM_152564.5(VPS13B):c.537T>C (p.Tyr179=)
|
rs754351909
|
|
NM_152564.5(VPS13B):c.5384C>T (p.Ala1795Val)
|
|
|
NM_152564.5(VPS13B):c.5385C>G (p.Ala1795=)
|
rs371961319
|
|
NM_152564.5(VPS13B):c.5386C>T (p.Arg1796Cys)
|
|
|
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs)
|
rs180177364
|
|
NM_152564.5(VPS13B):c.5389C>T (p.Pro1797Ser)
|
rs1829388448
|
|
NM_152564.5(VPS13B):c.5391dup (p.Ser1798fs)
|
|
|
NM_152564.5(VPS13B):c.539C>T (p.Thr180Ile)
|
|
|
NM_152564.5(VPS13B):c.5407A>G (p.Ile1803Val)
|
rs1829389144
|
|
NM_152564.5(VPS13B):c.5418T>C (p.Asn1806=)
|
rs2133931722
|
|
NM_152564.5(VPS13B):c.541dup (p.Val181fs)
|
|
|
NM_152564.5(VPS13B):c.5425T>C (p.Phe1809Leu)
|
|
|
NM_152564.5(VPS13B):c.5430T>A (p.Ile1810=)
|
|
|
NM_152564.5(VPS13B):c.5433C>T (p.Pro1811=)
|
rs2133931744
|
|
NM_152564.5(VPS13B):c.5433del (p.Phe1812fs)
|
|
|
NM_152564.5(VPS13B):c.5436T>G (p.Phe1812Leu)
|
rs2133931748
|
|
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del)
|
rs1057519183
|
|
NM_152564.5(VPS13B):c.5439C>T (p.Asp1813=)
|
rs1588579468
|
|
NM_152564.5(VPS13B):c.5448T>C (p.Ile1816=)
|
rs2133931779
|
|
NM_152564.5(VPS13B):c.5463C>A (p.Ile1821=)
|
|
|
NM_152564.5(VPS13B):c.5463C>G (p.Ile1821Met)
|
|
|
NM_152564.5(VPS13B):c.5475C>T (p.Thr1825=)
|
|
|
NM_152564.5(VPS13B):c.547G>T (p.Glu183Ter)
|
rs1227284058
|
|
NM_152564.5(VPS13B):c.5483G>A (p.Cys1828Tyr)
|
rs2133931825
|
|
NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly)
|
rs1829392467
|
|
NM_152564.5(VPS13B):c.5489C>T (p.Ala1830Val)
|
|
|
NM_152564.5(VPS13B):c.5490C>G (p.Ala1830=)
|
rs1829392538
|
|
NM_152564.5(VPS13B):c.5496C>A (p.Ser1832=)
|
|
|
NM_152564.5(VPS13B):c.5496C>T (p.Ser1832=)
|
|
|
NM_152564.5(VPS13B):c.5499A>G (p.Lys1833=)
|
|
|
NM_152564.5(VPS13B):c.5502G>A (p.Ser1834=)
|
rs143115716
|
|
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=)
|
rs143115716
|
|
NM_152564.5(VPS13B):c.5508A>G (p.Ser1836=)
|
|
|
NM_152564.5(VPS13B):c.5508A>T (p.Ser1836=)
|
rs2133931892
|
|
NM_152564.5(VPS13B):c.5514A>G (p.Glu1838=)
|
|
|
NM_152564.5(VPS13B):c.5518A>T (p.Lys1840Ter)
|
|
|
NM_152564.5(VPS13B):c.5520G>T (p.Lys1840Asn)
|
rs2133931905
|
|
NM_152564.5(VPS13B):c.5522A>G (p.Asn1841Ser)
|
|
|
NM_152564.5(VPS13B):c.5526T>C (p.Asn1842=)
|
|
|
NM_152564.5(VPS13B):c.5527G>T (p.Glu1843Ter)
|
|
|
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val)
|
rs141211386
|
|
NM_152564.5(VPS13B):c.552A>G (p.Leu184=)
|
|
|
NM_152564.5(VPS13B):c.5533dup (p.Thr1845fs)
|
rs1176397159
|
|
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter)
|
rs1554884838
|
|
NM_152564.5(VPS13B):c.5540dup (p.Ser1848fs)
|
rs386834095
|
|
NM_152564.5(VPS13B):c.5547A>G (p.Ser1849=)
|
rs1379595802
|
|
NM_152564.5(VPS13B):c.5551A>T (p.Asn1851Tyr)
|
rs746642412
|
|
NM_152564.5(VPS13B):c.5559A>G (p.Pro1853=)
|
|
|
NM_152564.5(VPS13B):c.5562A>G (p.Glu1854=)
|
|
|
NM_152564.5(VPS13B):c.5572G>A (p.Asp1858Asn)
|
rs886062542
|
|
NM_152564.5(VPS13B):c.5577del (p.Ala1860fs)
|
|
|
NM_152564.5(VPS13B):c.5580T>G (p.Ala1860=)
|
|
|
NM_152564.5(VPS13B):c.5583G>A (p.Lys1861=)
|
|
|
NM_152564.5(VPS13B):c.5588_5589del (p.Asn1863fs)
|
|
|
NM_152564.5(VPS13B):c.5589C>G (p.Asn1863Lys)
|
|
|
NM_152564.5(VPS13B):c.5589C>T (p.Asn1863=)
|
|
|
NM_152564.5(VPS13B):c.558T>C (p.Asp186=)
|
rs2132454209
|
|
NM_152564.5(VPS13B):c.5593_5614del (p.Ala1865fs)
|
|
|
NM_152564.5(VPS13B):c.5595A>G (p.Ala1865=)
|
|
|
NM_152564.5(VPS13B):c.5598T>C (p.Cys1866=)
|
rs2133932018
|
|
NM_152564.5(VPS13B):c.5599del (p.Ile1867fs)
|
|
|
NM_152564.5(VPS13B):c.5600T>C (p.Ile1867Thr)
|
|
|
NM_152564.5(VPS13B):c.5604C>T (p.Ser1868=)
|
|
|
NM_152564.5(VPS13B):c.5607G>T (p.Thr1869=)
|
rs368851580
|
|
NM_152564.5(VPS13B):c.5608G>A (p.Val1870Met)
|
rs1829397607
|
|
NM_152564.5(VPS13B):c.5616A>G (p.Ala1872=)
|
|
|
NM_152564.5(VPS13B):c.5617G>T (p.Glu1873Ter)
|
|
|
NM_152564.5(VPS13B):c.5619A>C (p.Glu1873Asp)
|
|
|
NM_152564.5(VPS13B):c.5624T>A (p.Leu1875His)
|
rs2133932090
|
|
NM_152564.5(VPS13B):c.5624T>C (p.Leu1875Pro)
|
rs2133932090
|
|
NM_152564.5(VPS13B):c.5627_5628insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAAAGATCTCTT (p.Leu1876delinsPhePhePhePhePhePhePheXaaXaaXaaXaaHisMetTyrThrCysAlaMetLeuValArgCysThrHisTer)
|
|
|
NM_152564.5(VPS13B):c.5629A>G (p.Arg1877Gly)
|
rs1829398507
|
|
NM_152564.5(VPS13B):c.5637C>T (p.Ser1879=)
|
|
|
NM_152564.5(VPS13B):c.5647C>T (p.Pro1883Ser)
|
|
|
NM_152564.5(VPS13B):c.5649T>C (p.Pro1883=)
|
|
|
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer)
|
rs1554884932
|
|
NM_152564.5(VPS13B):c.5653G>A (p.Gly1885Arg)
|
rs1829399240
|
|
NM_152564.5(VPS13B):c.5653G>T (p.Gly1885Trp)
|
rs1829399240
|
|
NM_152564.5(VPS13B):c.5654G>A (p.Gly1885Glu)
|
|
|
NM_152564.5(VPS13B):c.5656A>G (p.Lys1886Glu)
|
|
|
NM_152564.5(VPS13B):c.5661A>G (p.Lys1887=)
|
|
|
NM_152564.5(VPS13B):c.5662A>G (p.Ile1888Val)
|
rs2133932160
|
|
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs)
|
rs386834096
|
|
NM_152564.5(VPS13B):c.5670C>A (p.Val1890=)
|
rs1588579765
|
|
NM_152564.5(VPS13B):c.5670C>G (p.Val1890=)
|
|
|
NM_152564.5(VPS13B):c.5670C>T (p.Val1890=)
|
rs1588579765
|
|
NM_152564.5(VPS13B):c.5675C>T (p.Ser1892Phe)
|
rs1588579775
|
|
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs)
|
rs386834097
|
|
NM_152564.5(VPS13B):c.5676T>C (p.Ser1892=)
|
rs1057231115
|
|
NM_152564.5(VPS13B):c.5679T>G (p.Leu1893=)
|
rs1189138750
|
|
NM_152564.5(VPS13B):c.5685T>C (p.Ser1895=)
|
|
|
NM_152564.5(VPS13B):c.5688T>G (p.Leu1896=)
|
|
|
NM_152564.5(VPS13B):c.5690A>G (p.His1897Arg)
|
rs1329528398
|
|
NM_152564.5(VPS13B):c.5700A>T (p.Thr1900=)
|
|
|
NM_152564.5(VPS13B):c.5705C>A (p.Ser1902Ter)
|
|
|
NM_152564.5(VPS13B):c.5712T>C (p.Ala1904=)
|
|
|
NM_152564.5(VPS13B):c.5714G>C (p.Arg1905Thr)
|
rs1829402250
|
|
NM_152564.5(VPS13B):c.5719del (p.Ala1907fs)
|
|
|
NM_152564.5(VPS13B):c.5721A>G (p.Ala1907=)
|
|
|
NM_152564.5(VPS13B):c.5728A>G (p.Ile1910Val)
|
|
|
NM_152564.5(VPS13B):c.572A>G (p.Asp191Gly)
|
|
|
NM_152564.5(VPS13B):c.572del (p.Asp191fs)
|
rs1588038976
|
|
NM_152564.5(VPS13B):c.5733T>G (p.Thr1911=)
|
|
|
NM_152564.5(VPS13B):c.5734A>G (p.Ile1912Val)
|
rs1829403087
|
|
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)
|
rs386834098
|
|
NM_152564.5(VPS13B):c.5735T>C (p.Ile1912Thr)
|
rs1829403156
|
|
NM_152564.5(VPS13B):c.5736T>C (p.Ile1912=)
|
|
|
NM_152564.5(VPS13B):c.5737G>T (p.Val1913Phe)
|
rs2133932316
|
|
NM_152564.5(VPS13B):c.5740C>T (p.Arg1914Trp)
|
|
|
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln)
|
rs150272676
|
|
NM_152564.5(VPS13B):c.5742G>A (p.Arg1914=)
|
|
|
NM_152564.5(VPS13B):c.5753G>A (p.Arg1918Gln)
|
|
|
NM_152564.5(VPS13B):c.5763T>A (p.Thr1921=)
|
|
|
NM_152564.5(VPS13B):c.5763T>C (p.Thr1921=)
|
|
|
NM_152564.5(VPS13B):c.5768A>C (p.Asp1923Ala)
|
rs1829404418
|
|
NM_152564.5(VPS13B):c.5770T>C (p.Leu1924=)
|
|
|
NM_152564.5(VPS13B):c.5771del (p.Leu1924fs)
|
rs2133932364
|
|
NM_152564.5(VPS13B):c.5773C>A (p.Gln1925Lys)
|
rs2133932374
|
|
NM_152564.5(VPS13B):c.5777T>C (p.Leu1926Pro)
|
rs1829404779
|
|
NM_152564.5(VPS13B):c.5778A>G (p.Leu1926=)
|
|
|
NM_152564.5(VPS13B):c.5788C>T (p.Leu1930=)
|
|
|
NM_152564.5(VPS13B):c.5790G>C (p.Leu1930=)
|
rs1588579889
|
|
NM_152564.5(VPS13B):c.580+15A>G
|
|
|
NM_152564.5(VPS13B):c.580+19T>C
|
|
|
NM_152564.5(VPS13B):c.580+1G>A
|
rs1846848656
|
|
NM_152564.5(VPS13B):c.580+1G>T
|
rs1846848656
|
|
NM_152564.5(VPS13B):c.580+20A>G
|
|
|
NM_152564.5(VPS13B):c.580+2T>C
|
|
|
NM_152564.5(VPS13B):c.580+8A>T
|
|
|
NM_152564.5(VPS13B):c.5802G>A (p.Val1934=)
|
|
|
NM_152564.5(VPS13B):c.5802G>T (p.Val1934=)
|
|
|
NM_152564.5(VPS13B):c.5805C>T (p.Ser1935=)
|
|
|
NM_152564.5(VPS13B):c.5809C>G (p.Pro1937Ala)
|
rs1829406082
|
|
NM_152564.5(VPS13B):c.580G>A (p.Ala194Thr)
|
|
|
NM_152564.5(VPS13B):c.581-13T>C
|
|
|
NM_152564.5(VPS13B):c.581-14T>A
|
|
|
NM_152564.5(VPS13B):c.581-17T>C
|
rs199785370
|
|
NM_152564.5(VPS13B):c.581-17T>G
|
|
|
NM_152564.5(VPS13B):c.581-18G>A
|
rs2132481452
|
|
NM_152564.5(VPS13B):c.581-18del
|
|
|
NM_152564.5(VPS13B):c.581-1G>A
|
|
|
NM_152564.5(VPS13B):c.581-4T>G
|
|
|
NM_152564.5(VPS13B):c.581-9del
|
|
|
NM_152564.5(VPS13B):c.581-9dup
|
rs60664170
|
|
NM_152564.5(VPS13B):c.5814C>A (p.Ser1938=)
|
|
|
NM_152564.5(VPS13B):c.5815T>C (p.Leu1939=)
|
|
|
NM_152564.5(VPS13B):c.5815T>G (p.Leu1939Val)
|
rs751559027
|
|
NM_152564.5(VPS13B):c.5819T>C (p.Leu1940Pro)
|
rs2133932465
|
|
NM_152564.5(VPS13B):c.5820T>A (p.Leu1940=)
|
|
|
NM_152564.5(VPS13B):c.5826T>C (p.Ser1942=)
|
|
|
NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter)
|
|
|
NM_152564.5(VPS13B):c.5836_5840del (p.Arg1946fs)
|
rs2133932487
|
|
NM_152564.5(VPS13B):c.5846G>A (p.Arg1949Gln)
|
|
|
NM_152564.5(VPS13B):c.5848G>C (p.Val1950Leu)
|
|
|
NM_152564.5(VPS13B):c.5849T>C (p.Val1950Ala)
|
|
|
NM_152564.5(VPS13B):c.584C>T (p.Thr195Ile)
|
rs770738729
|
|
NM_152564.5(VPS13B):c.5859C>A (p.Ser1953=)
|
|
|
NM_152564.5(VPS13B):c.5871T>C (p.Ala1957=)
|
|
|
NM_152564.5(VPS13B):c.5874G>T (p.Val1958=)
|
|
|
NM_152564.5(VPS13B):c.5885T>C (p.Val1962Ala)
|
rs149408318
|
|
NM_152564.5(VPS13B):c.5886G>A (p.Val1962=)
|
|
|
NM_152564.5(VPS13B):c.5894A>C (p.Asp1965Ala)
|
|
|
NM_152564.5(VPS13B):c.5895T>C (p.Asp1965=)
|
|
|
NM_152564.5(VPS13B):c.5908+14A>C
|
rs886062543
|
|
NM_152564.5(VPS13B):c.5908+14A>G
|
|
|
NM_152564.5(VPS13B):c.5908+19dup
|
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_152564.5(VPS13B):c.5908+7A>C
|
|
|
NM_152564.5(VPS13B):c.5908+8C>A
|
|
|
NM_152564.5(VPS13B):c.5909-16A>T
|
|
|
NM_152564.5(VPS13B):c.5909-1G>T
|
rs1057516694
|
|
NM_152564.5(VPS13B):c.5909-4T>G
|
|
|
NM_152564.5(VPS13B):c.5910T>C (p.Asp1970=)
|
rs2129763250
|
|
NM_152564.5(VPS13B):c.5911C>T (p.Pro1971Ser)
|
|
|
NM_152564.5(VPS13B):c.5913T>C (p.Pro1971=)
|
|
|
NM_152564.5(VPS13B):c.5919G>A (p.Lys1973=)
|
rs1588598785
|
|
NM_152564.5(VPS13B):c.5921C>T (p.Thr1974Ile)
|
|
|
NM_152564.5(VPS13B):c.5922T>C (p.Thr1974=)
|
|
|
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)
|
rs886041323
|
|
NM_152564.5(VPS13B):c.5924T>G (p.Leu1975Arg)
|
rs766541661
|
|
NM_152564.5(VPS13B):c.5925G>A (p.Leu1975=)
|
rs2129763425
|
|
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs)
|
rs755125969
|
|
NM_152564.5(VPS13B):c.5931A>T (p.Glu1977Asp)
|
rs1830218052
|
|
NM_152564.5(VPS13B):c.5931del (p.Ala1978fs)
|
rs2129763497
|
|
NM_152564.5(VPS13B):c.5936_5937dup (p.Asp1980fs)
|
rs2129763561
|
|
NM_152564.5(VPS13B):c.5946C>A (p.Cys1982Ter)
|
|
|
NM_152564.5(VPS13B):c.5953T>G (p.Trp1985Gly)
|
rs2129763705
|
|
NM_152564.5(VPS13B):c.5955G>A (p.Trp1985Ter)
|
rs1554892040
|
|
NM_152564.5(VPS13B):c.5958A>G (p.Leu1986=)
|
rs2129763770
|
|
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
|
|
|
NM_152564.5(VPS13B):c.5967G>A (p.Val1989=)
|
rs2129763862
|
|
NM_152564.5(VPS13B):c.596T>G (p.Leu199Arg)
|
|
|
NM_152564.5(VPS13B):c.5980G>A (p.Asp1994Asn)
|
|
|
NM_152564.5(VPS13B):c.5990G>A (p.Ser1997Asn)
|
|
|
NM_152564.5(VPS13B):c.5994T>C (p.Gly1998=)
|
rs2129764118
|
|
NM_152564.5(VPS13B):c.5995A>G (p.Ile1999Val)
|
|
|
NM_152564.5(VPS13B):c.5997T>C (p.Ile1999=)
|
|
|
NM_152564.5(VPS13B):c.5998C>T (p.Pro2000Ser)
|
rs939700991
|
|
NM_152564.5(VPS13B):c.5T>A (p.Leu2Gln)
|
|
|
NM_152564.5(VPS13B):c.6003T>C (p.Pro2001=)
|
|
|
NM_152564.5(VPS13B):c.6004T>C (p.Ser2002Pro)
|
|
|
NM_152564.5(VPS13B):c.6009T>C (p.Phe2003=)
|
rs1830220185
|
|
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)
|
rs1357171752
|
|
NM_152564.5(VPS13B):c.6015A>G (p.Thr2005=)
|
|
|
NM_152564.5(VPS13B):c.6018A>G (p.Leu2006=)
|
|
|
NM_152564.5(VPS13B):c.6019C>T (p.Gln2007Ter)
|
|
|
NM_152564.5(VPS13B):c.6023T>A (p.Ile2008Asn)
|
rs1341696957
|
|
NM_152564.5(VPS13B):c.6030C>T (p.Asp2010=)
|
rs2129764617
|
|
NM_152564.5(VPS13B):c.6039T>A (p.Asn2013Lys)
|
rs1211147648
|
|
NM_152564.5(VPS13B):c.6039T>G (p.Asn2013Lys)
|
|
|
NM_152564.5(VPS13B):c.6046+10T>C
|
|
|
NM_152564.5(VPS13B):c.6046+12A>T
|
|
|
NM_152564.5(VPS13B):c.6046+17A>G
|
|
|
NM_152564.5(VPS13B):c.6046+17del
|
|
|
NM_152564.5(VPS13B):c.6046+1G>C
|
rs750003804
|
|
NM_152564.5(VPS13B):c.6046+1G>T
|
rs750003804
|
|
NM_152564.5(VPS13B):c.6046+8A>G
|
|
|
NM_152564.5(VPS13B):c.6046+8A>T
|
|
|
NM_152564.5(VPS13B):c.6046+8del
|
rs2129764825
|
|
NM_152564.5(VPS13B):c.6046+9G>A
|
rs2129764870
|
|
NM_152564.5(VPS13B):c.6046+9G>C
|
rs2129764870
|
|
NM_152564.5(VPS13B):c.6047-10A>C
|
rs761450531
|
|
NM_152564.5(VPS13B):c.6047-11T>C
|
|
|
NM_152564.5(VPS13B):c.6047-14T>C
|
|
|
NM_152564.5(VPS13B):c.6047-15T>C
|
|
|
NM_152564.5(VPS13B):c.6047-17_6047-16del
|
|
|
NM_152564.5(VPS13B):c.6047-19C>A
|
|
|
NM_152564.5(VPS13B):c.6047-1G>A
|
rs750092574
|
|
NM_152564.5(VPS13B):c.6047-20T>A
|
|
|
NM_152564.5(VPS13B):c.6047-5T>C
|
|
|
NM_152564.5(VPS13B):c.6047-5T>G
|
|
|
NM_152564.5(VPS13B):c.6047-5_6047del
|
rs1057516841
|
|
NM_152564.5(VPS13B):c.6047-6C>G
|
rs1386160206
|
|
NM_152564.5(VPS13B):c.6047-9C>T
|
|
|
NM_152564.5(VPS13B):c.6050A>G (p.Asp2017Gly)
|
rs1157627196
|
|
NM_152564.5(VPS13B):c.6052G>A (p.Val2018Ile)
|
rs2130179163
|
|
NM_152564.5(VPS13B):c.6054C>G (p.Val2018=)
|
|
|
NM_152564.5(VPS13B):c.6057T>C (p.Asn2019=)
|
|
|
NM_152564.5(VPS13B):c.6063T>C (p.Asp2021=)
|
rs919026637
|
|
NM_152564.5(VPS13B):c.6067T>A (p.Ser2023Thr)
|
|
|
NM_152564.5(VPS13B):c.6068C>G (p.Ser2023Ter)
|
|
|
NM_152564.5(VPS13B):c.6074del (p.Pro2025fs)
|
|
|
NM_152564.5(VPS13B):c.6082G>A (p.Ala2028Thr)
|
rs1310217789
|
|
NM_152564.5(VPS13B):c.6082G>C (p.Ala2028Pro)
|
rs1310217789
|
|
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs)
|
rs1554911430
|
|
NM_152564.5(VPS13B):c.6087C>T (p.Asn2029=)
|
rs746122729
|
|
NM_152564.5(VPS13B):c.60C>A (p.Asn20Lys)
|
rs2132125423
|
|
NM_152564.5(VPS13B):c.6103C>A (p.Leu2035Met)
|
|
|
NM_152564.5(VPS13B):c.6103C>T (p.Leu2035=)
|
rs146073786
|
|
NM_152564.5(VPS13B):c.610A>C (p.Asn204His)
|
rs2132481643
|
|
NM_152564.5(VPS13B):c.610A>G (p.Asn204Asp)
|
rs2132481643
|
|
NM_152564.5(VPS13B):c.6117C>A (p.Asn2039Lys)
|
rs2130179604
|
|
NM_152564.5(VPS13B):c.6118del (p.Leu2040fs)
|
rs2130179621
|
|
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs)
|
rs1554911481
|
|
NM_152564.5(VPS13B):c.6132G>A (p.Lys2044=)
|
rs1832185851
|
|
NM_152564.5(VPS13B):c.6132G>T (p.Lys2044Asn)
|
rs1832185851
|
|
NM_152564.5(VPS13B):c.6134T>C (p.Ile2045Thr)
|
|
|
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs)
|
rs2130179734
|
|
NM_152564.5(VPS13B):c.6141T>C (p.Asn2047=)
|
rs761542645
|
|
NM_152564.5(VPS13B):c.6143C>T (p.Ala2048Val)
|
rs1832186518
|
|
NM_152564.5(VPS13B):c.6144A>G (p.Ala2048=)
|
|
|
NM_152564.5(VPS13B):c.6147_6148del (p.His2049fs)
|
rs1588635717
|
|
NM_152564.5(VPS13B):c.6154G>A (p.Ala2052Thr)
|
|
|
NM_152564.5(VPS13B):c.6154G>T (p.Ala2052Ser)
|
|
|
NM_152564.5(VPS13B):c.6156A>G (p.Ala2052=)
|
|
|
NM_152564.5(VPS13B):c.6158A>G (p.His2053Arg)
|
rs762539148
|
|
NM_152564.5(VPS13B):c.6160A>C (p.Ser2054Arg)
|
|
|
NM_152564.5(VPS13B):c.6161G>C (p.Ser2054Thr)
|
|
|
NM_152564.5(VPS13B):c.6165A>G (p.Glu2055=)
|
|
|
NM_152564.5(VPS13B):c.6171T>C (p.Thr2057=)
|
rs1832187710
|
|
NM_152564.5(VPS13B):c.6179T>C (p.Met2060Thr)
|
|
|
NM_152564.5(VPS13B):c.6183del (p.Asn2062fs)
|
|
|
NM_152564.5(VPS13B):c.6184A>G (p.Asn2062Asp)
|
rs754400139
|
|
NM_152564.5(VPS13B):c.6185A>G (p.Asn2062Ser)
|
|
|
NM_152564.5(VPS13B):c.6186C>T (p.Asn2062=)
|
rs1832188570
|
|
NM_152564.5(VPS13B):c.6201_6210del (p.Lys2067fs)
|
rs2130180236
|
|
NM_152564.5(VPS13B):c.6202G>T (p.Asp2068Tyr)
|
|
|
NM_152564.5(VPS13B):c.6208C>T (p.Leu2070Phe)
|
|
|
NM_152564.5(VPS13B):c.6213A>G (p.Pro2071=)
|
|
|
NM_152564.5(VPS13B):c.621C>G (p.Asp207Glu)
|
rs1847342750
|
|
NM_152564.5(VPS13B):c.6220A>G (p.Lys2074Glu)
|
rs2130180328
|
|
NM_152564.5(VPS13B):c.6225T>C (p.Tyr2075=)
|
|
|
NM_152564.5(VPS13B):c.6226T>C (p.Tyr2076His)
|
|
|
NM_152564.5(VPS13B):c.6226T>G (p.Tyr2076Asp)
|
rs1832190256
|
|
NM_152564.5(VPS13B):c.6226dup (p.Tyr2076fs)
|
|
|
NM_152564.5(VPS13B):c.6228C>A (p.Tyr2076Ter)
|
|
|
NM_152564.5(VPS13B):c.6230G>A (p.Arg2077His)
|
rs747116389
|
|
NM_152564.5(VPS13B):c.6230G>T (p.Arg2077Leu)
|
rs747116389
|
|
NM_152564.5(VPS13B):c.623G>A (p.Cys208Tyr)
|
rs1209535812
|
|
NM_152564.5(VPS13B):c.6248C>T (p.Pro2083Leu)
|
rs1184896116
|
|
NM_152564.5(VPS13B):c.6249C>T (p.Pro2083=)
|
|
|
NM_152564.5(VPS13B):c.624T>C (p.Cys208=)
|
rs2132481707
|
|
NM_152564.5(VPS13B):c.6257A>G (p.His2086Arg)
|
|
|
NM_152564.5(VPS13B):c.6261T>C (p.Gly2087=)
|
rs2130180519
|
|
NM_152564.5(VPS13B):c.6266G>A (p.Gly2089Glu)
|
rs398124336
|
|
NM_152564.5(VPS13B):c.6269T>C (p.Val2090Ala)
|
rs1832191327
|
|
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs)
|
rs386834100
|
|
NM_152564.5(VPS13B):c.627A>G (p.Thr209=)
|
rs2132481722
|
|
NM_152564.5(VPS13B):c.627A>T (p.Thr209=)
|
rs2132481722
|
|
NM_152564.5(VPS13B):c.6282A>G (p.Ser2094=)
|
rs2130180683
|
|
NM_152564.5(VPS13B):c.6289_6295del (p.Glu2097fs)
|
|
|
NM_152564.5(VPS13B):c.6298T>C (p.Trp2100Arg)
|
rs758902485
|
|
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter)
|
rs1057516331
|
|
NM_152564.5(VPS13B):c.6299_6308del (p.Trp2100fs)
|
rs1554911731
|
|
NM_152564.5(VPS13B):c.6301A>G (p.Arg2101Gly)
|
rs767165760
|
|
NM_152564.5(VPS13B):c.6302_6303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAACATGTGGAG (p.Arg2101_Ala2102insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluAsnMetTrpArg)
|
rs2130180694
|
|
NM_152564.5(VPS13B):c.6304G>A (p.Ala2102Thr)
|
|
|
NM_152564.5(VPS13B):c.6306T>C (p.Ala2102=)
|
rs2130180906
|
|
NM_152564.5(VPS13B):c.630T>C (p.Val210=)
|
rs2132481732
|
|
NM_152564.5(VPS13B):c.6312C>T (p.Ser2104=)
|
rs2130180969
|
|
NM_152564.5(VPS13B):c.6313T>G (p.Cys2105Gly)
|
|
|
NM_152564.5(VPS13B):c.6315C>A (p.Cys2105Ter)
|
rs2130181003
|
|
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter)
|
rs1057516489
|
|
NM_152564.5(VPS13B):c.6329_6330del (p.Ser2110fs)
|
|
|
NM_152564.5(VPS13B):c.6330T>C (p.Ser2110=)
|
|
|
NM_152564.5(VPS13B):c.6330del (p.Val2111fs)
|
|
|
NM_152564.5(VPS13B):c.6336A>T (p.Gln2112His)
|
rs780082543
|
|
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter)
|
rs1057516287
|
|
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs)
|
rs386834101
|
|
NM_152564.5(VPS13B):c.6346A>G (p.Ile2116Val)
|
|
|
NM_152564.5(VPS13B):c.6362A>G (p.Glu2121Gly)
|
rs2130181316
|
|
NM_152564.5(VPS13B):c.6371C>G (p.Pro2124Arg)
|
rs762559001
|
|
NM_152564.5(VPS13B):c.6377C>G (p.Thr2126Ser)
|
|
|
NM_152564.5(VPS13B):c.6381del (p.Ser2127fs)
|
|
|
NM_152564.5(VPS13B):c.6395T>A (p.Leu2132Ter)
|
rs2130181483
|
|
NM_152564.5(VPS13B):c.6398C>A (p.Ala2133Glu)
|
rs2130181520
|
|
NM_152564.5(VPS13B):c.6399A>G (p.Ala2133=)
|
|
|
NM_152564.5(VPS13B):c.63A>G (p.Leu21=)
|
rs1841448791
|
|
NM_152564.5(VPS13B):c.6411C>T (p.Asn2137=)
|
|
|
NM_152564.5(VPS13B):c.6412del (p.Leu2138fs)
|
|
|
NM_152564.5(VPS13B):c.6422G>C (p.Ser2141Thr)
|
|
|
NM_152564.5(VPS13B):c.6432C>A (p.Val2144=)
|
rs1399379580
|
|
NM_152564.5(VPS13B):c.6447del (p.Val2150fs)
|
rs2130181658
|
|
NM_152564.5(VPS13B):c.6451C>T (p.Pro2151Ser)
|
rs2130181723
|
|
NM_152564.5(VPS13B):c.6454+10A>G
|
rs2130181855
|
|
NM_152564.5(VPS13B):c.6454+16G>C
|
|
|
NM_152564.5(VPS13B):c.6454+19G>A
|
|
|
NM_152564.5(VPS13B):c.6454+19G>T
|
|
|
NM_152564.5(VPS13B):c.6454+19del
|
rs772522395
|
|
NM_152564.5(VPS13B):c.6454+1G>C
|
rs1235993153
|
|
NM_152564.5(VPS13B):c.6455-15G>A
|
|
|
NM_152564.5(VPS13B):c.6455-16del
|
|
|
NM_152564.5(VPS13B):c.6455-17C>A
|
|
|
NM_152564.5(VPS13B):c.6455-20_6455-12del
|
|
|
NM_152564.5(VPS13B):c.6455-4del
|
rs398124337
|
|
NM_152564.5(VPS13B):c.6455-4dup
|
rs398124337
|
|
NM_152564.5(VPS13B):c.6455-5_6455-4dup
|
|
|
NM_152564.5(VPS13B):c.6455-9T>A
|
|
|
NM_152564.5(VPS13B):c.6456C>G (p.Gly2152=)
|
rs141845131
|
|
NM_152564.5(VPS13B):c.6456C>T (p.Gly2152=)
|
|
|
NM_152564.5(VPS13B):c.6457A>G (p.Ile2153Val)
|
|
|
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter)
|
rs1057516494
|
|
NM_152564.5(VPS13B):c.6470C>G (p.Ser2157Ter)
|
|
|
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)
|
|
|
NM_152564.5(VPS13B):c.6483C>A (p.Leu2161=)
|
rs2130316478
|
|
NM_152564.5(VPS13B):c.6483C>T (p.Leu2161=)
|
|
|
NM_152564.5(VPS13B):c.6493G>A (p.Asp2165Asn)
|
|
|
NM_152564.5(VPS13B):c.6503T>G (p.Leu2168Arg)
|
rs120074149
|
|
NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter)
|
|
|
NM_152564.5(VPS13B):c.6507A>C (p.Lys2169Asn)
|
rs1367000031
|
|
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs)
|
rs1057517318
|
|
NM_152564.5(VPS13B):c.6511A>G (p.Ser2171Gly)
|
|
|
NM_152564.5(VPS13B):c.6513T>A (p.Ser2171Arg)
|
|
|
NM_152564.5(VPS13B):c.6513T>C (p.Ser2171=)
|
rs2130316731
|
|
NM_152564.5(VPS13B):c.6516C>G (p.Leu2172=)
|
rs1308542502
|
|
NM_152564.5(VPS13B):c.6519A>G (p.Lys2173=)
|
|
|
NM_152564.5(VPS13B):c.651C>T (p.Ala217=)
|
rs2132481774
|
|
NM_152564.5(VPS13B):c.6523_6526del (p.Arg2175fs)
|
|
|
NM_152564.5(VPS13B):c.6524G>T (p.Arg2175Ile)
|
rs543464415
|
|
NM_152564.5(VPS13B):c.6529C>A (p.Arg2177Ser)
|
rs756143690
|
|
NM_152564.5(VPS13B):c.6529C>T (p.Arg2177Cys)
|
rs756143690
|
|
NM_152564.5(VPS13B):c.6530G>T (p.Arg2177Leu)
|
rs147099791
|
|
NM_152564.5(VPS13B):c.6538A>G (p.Ile2180Val)
|
rs1179122669
|
|
NM_152564.5(VPS13B):c.6539T>G (p.Ile2180Arg)
|
|
|
NM_152564.5(VPS13B):c.6542G>A (p.Gly2181Glu)
|
|
|
NM_152564.5(VPS13B):c.6543A>T (p.Gly2181=)
|
|
|
NM_152564.5(VPS13B):c.6544C>T (p.Pro2182Ser)
|
rs778567402
|
|
NM_152564.5(VPS13B):c.6546A>G (p.Pro2182=)
|
rs374153644
|
|
NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter)
|
|
|
NM_152564.5(VPS13B):c.6552T>C (p.Cys2184=)
|
|
|
NM_152564.5(VPS13B):c.6552dup (p.Ala2185fs)
|
|
|
NM_152564.5(VPS13B):c.6560C>T (p.Ala2187Val)
|
|
|
NM_152564.5(VPS13B):c.6563A>G (p.Asn2188Ser)
|
rs1399212150
|
|
NM_152564.5(VPS13B):c.6564T>C (p.Asn2188=)
|
rs746691768
|
|
NM_152564.5(VPS13B):c.6565C>A (p.Leu2189Met)
|
rs1299494623
|
|
NM_152564.5(VPS13B):c.6565C>T (p.Leu2189=)
|
|
|
NM_152564.5(VPS13B):c.6566T>G (p.Leu2189Arg)
|
|
|
NM_152564.5(VPS13B):c.6567G>A (p.Leu2189=)
|
|
|
NM_152564.5(VPS13B):c.6570A>G (p.Glu2190=)
|
rs2130317152
|
|
NM_152564.5(VPS13B):c.6573T>C (p.Ala2191=)
|
|
|
NM_152564.5(VPS13B):c.6578_6579insTA (p.Trp2193fs)
|
rs1554922054
|
|
NM_152564.5(VPS13B):c.6579G>C (p.Trp2193Cys)
|
rs763341700
|
|
NM_152564.5(VPS13B):c.6589A>C (p.Ser2197Arg)
|
rs1319011435
|
|
NM_152564.5(VPS13B):c.6594G>A (p.Gly2198=)
|
rs2130317388
|
|
NM_152564.5(VPS13B):c.6600A>C (p.Pro2200=)
|
rs1259627712
|
|
NM_152564.5(VPS13B):c.6612A>G (p.Gln2204=)
|
|
|
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs)
|
rs386834102
|
|
NM_152564.5(VPS13B):c.6625dup (p.Ile2209fs)
|
rs2130317561
|
|
NM_152564.5(VPS13B):c.6635A>C (p.Asp2212Ala)
|
rs1832965733
|
|
NM_152564.5(VPS13B):c.6636C>T (p.Asp2212=)
|
rs750393129
|
|
NM_152564.5(VPS13B):c.6647_6653del (p.Gly2216fs)
|
|
|
NM_152564.5(VPS13B):c.664G>T (p.Glu222Ter)
|
rs2132481787
|
|
NM_152564.5(VPS13B):c.6652C>T (p.Leu2218=)
|
rs559107679
|
|
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=)
|
rs1046756662
|
|
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter)
|
rs1057516663
|
|
NM_152564.5(VPS13B):c.6657+14G>A
|
rs2130317929
|
|
NM_152564.5(VPS13B):c.6657+15G>T
|
|
|
NM_152564.5(VPS13B):c.6657+18A>G
|
|
|
NM_152564.5(VPS13B):c.6657+1G>T
|
rs180177366
|
|
NM_152564.5(VPS13B):c.6657+2T>C
|
rs1832966881
|
|
NM_152564.5(VPS13B):c.6657+8G>A
|
rs2130317888
|
|
NM_152564.5(VPS13B):c.6658-10G>T
|
|
|
NM_152564.5(VPS13B):c.6658-12A>G
|
|
|
NM_152564.5(VPS13B):c.6658-13T>G
|
|
|
NM_152564.5(VPS13B):c.6658-13del
|
|
|
NM_152564.5(VPS13B):c.6658-13dup
|
|
|
NM_152564.5(VPS13B):c.6658-15T>A
|
|
|
NM_152564.5(VPS13B):c.6658-2A>G
|
rs386834103
|
|
NM_152564.5(VPS13B):c.6658-5dup
|
|
|
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=)
|
rs2130339813
|
|
NM_152564.5(VPS13B):c.6673G>C (p.Glu2225Gln)
|
rs1026588488
|
|
NM_152564.5(VPS13B):c.6682A>G (p.Asn2228Asp)
|
|
|
NM_152564.5(VPS13B):c.6684T>C (p.Asn2228=)
|
|
|
NM_152564.5(VPS13B):c.6689del (p.Cys2229_Leu2230insTer)
|
|
|
NM_152564.5(VPS13B):c.6690A>T (p.Leu2230Phe)
|
|
|
NM_152564.5(VPS13B):c.6693T>G (p.Val2231=)
|
rs1833088212
|
|
NM_152564.5(VPS13B):c.6697_6698del (p.Leu2233fs)
|
|
|
NM_152564.5(VPS13B):c.6698T>G (p.Leu2233Arg)
|
rs776873589
|
|
NM_152564.5(VPS13B):c.6702T>C (p.His2234=)
|
|
|
NM_152564.5(VPS13B):c.6705A>G (p.Glu2235=)
|
rs2130339992
|
|
NM_152564.5(VPS13B):c.6711C>G (p.Leu2237=)
|
|
|
NM_152564.5(VPS13B):c.6714T>C (p.Asn2238=)
|
|
|
NM_152564.5(VPS13B):c.6726T>C (p.Asn2242=)
|
|
|
NM_152564.5(VPS13B):c.6731del (p.Glu2244fs)
|
rs1833089251
|
|
NM_152564.5(VPS13B):c.6746T>A (p.Val2249Glu)
|
rs1833089427
|
|
NM_152564.5(VPS13B):c.6747A>C (p.Val2249=)
|
|
|
NM_152564.5(VPS13B):c.6747_6752del (p.Gln2250_Val2251del)
|
rs1833089374
|
|
NM_152564.5(VPS13B):c.6749A>C (p.Gln2250Pro)
|
rs1180682567
|
|
NM_152564.5(VPS13B):c.6750A>G (p.Gln2250=)
|
rs1833089749
|
|
NM_152564.5(VPS13B):c.6756T>C (p.Ser2252=)
|
|
|
NM_152564.5(VPS13B):c.675G>A (p.Gln225=)
|
rs750903037
|
|
NM_152564.5(VPS13B):c.6760C>T (p.Pro2254Ser)
|
|
|
NM_152564.5(VPS13B):c.6765G>A (p.Val2255=)
|
|
|
NM_152564.5(VPS13B):c.6765G>C (p.Val2255=)
|
rs544426092
|
|
NM_152564.5(VPS13B):c.6771A>G (p.Gln2257=)
|
|
|
NM_152564.5(VPS13B):c.6777A>G (p.Ser2259=)
|
|
|
NM_152564.5(VPS13B):c.6780T>C (p.Ser2260=)
|
rs1277725282
|
|
NM_152564.5(VPS13B):c.6801A>T (p.Thr2267=)
|
rs2130340554
|
|
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs)
|
rs761736983
|
|
NM_152564.5(VPS13B):c.6806A>T (p.Lys2269Ile)
|
|
|
NM_152564.5(VPS13B):c.6810T>C (p.Ser2270=)
|
|
|
NM_152564.5(VPS13B):c.6813A>G (p.Glu2271=)
|
|
|
NM_152564.5(VPS13B):c.681T>A (p.Pro227=)
|
rs1020075560
|
|
NM_152564.5(VPS13B):c.6822A>T (p.Ser2274=)
|
|
|
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs)
|
rs1057516302
|
|
NM_152564.5(VPS13B):c.6834G>A (p.Arg2278=)
|
rs1833091810
|
|
NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs)
|
|
|
NM_152564.5(VPS13B):c.6837A>T (p.Thr2279=)
|
|
|
NM_152564.5(VPS13B):c.6842T>A (p.Leu2281Gln)
|
|
|
NM_152564.5(VPS13B):c.6848A>T (p.Gln2283Leu)
|
rs1833091984
|
|
NM_152564.5(VPS13B):c.684A>G (p.Leu228=)
|
|
|
NM_152564.5(VPS13B):c.6852T>C (p.Tyr2284=)
|
rs2130340773
|
|
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter)
|
rs1833092121
|
|
NM_152564.5(VPS13B):c.6857A>G (p.Gln2286Arg)
|
rs200713917
|
|
NM_152564.5(VPS13B):c.6860A>G (p.Asp2287Gly)
|
|
|
NM_152564.5(VPS13B):c.6861T>C (p.Asp2287=)
|
|
|
NM_152564.5(VPS13B):c.6862G>A (p.Ala2288Thr)
|
|
|
NM_152564.5(VPS13B):c.6865+14G>C
|
|
|
NM_152564.5(VPS13B):c.6865+16C>T
|
|
|
NM_152564.5(VPS13B):c.6865+17T>A
|
|
|
NM_152564.5(VPS13B):c.6865+18C>G
|
rs1373890447
|
|
NM_152564.5(VPS13B):c.6865+1G>T
|
rs202046738
|
|
NM_152564.5(VPS13B):c.6865+7A>G
|
|
|
NM_152564.5(VPS13B):c.6866-10T>C
|
rs760306334
|
|
NM_152564.5(VPS13B):c.6866-12T>C
|
|
|
NM_152564.5(VPS13B):c.6866-14C>G
|
rs1277958075
|
|
NM_152564.5(VPS13B):c.6866-7T>C
|
|
|
NM_152564.5(VPS13B):c.6866-9A>G
|
rs2130342811
|
|
NM_152564.5(VPS13B):c.6867A>G (p.Glu2289=)
|
rs1217062116
|
|
NM_152564.5(VPS13B):c.6870T>C (p.Ser2290=)
|
rs2130342895
|
|
NM_152564.5(VPS13B):c.6878T>C (p.Leu2293Ser)
|
|
|
NM_152564.5(VPS13B):c.6881C>T (p.Pro2294Leu)
|
rs1833104493
|
|
NM_152564.5(VPS13B):c.6882T>C (p.Pro2294=)
|
rs2130342974
|
|
NM_152564.5(VPS13B):c.6882del (p.Val2296fs)
|
|
|
NM_152564.5(VPS13B):c.6885G>A (p.Gly2295=)
|
rs1588654731
|
|
NM_152564.5(VPS13B):c.6888C>G (p.Val2296=)
|
rs1563881584
|
|
NM_152564.5(VPS13B):c.6891T>C (p.Tyr2297=)
|
|
|
NM_152564.5(VPS13B):c.6900A>G (p.Leu2300=)
|
|
|
NM_152564.5(VPS13B):c.6905A>G (p.Tyr2302Cys)
|
rs1833105159
|
|
NM_152564.5(VPS13B):c.6915T>C (p.Thr2305=)
|
rs1833105356
|
|
NM_152564.5(VPS13B):c.6919G>A (p.Asp2307Asn)
|
rs1833105526
|
|
NM_152564.5(VPS13B):c.6921T>C (p.Asp2307=)
|
rs2130343166
|
|
NM_152564.5(VPS13B):c.6927A>G (p.Pro2309=)
|
|
|
NM_152564.5(VPS13B):c.6930G>T (p.Gly2310=)
|
|
|
NM_152564.5(VPS13B):c.6951A>G (p.Pro2317=)
|
rs1175046825
|
|
NM_152564.5(VPS13B):c.6955C>T (p.Pro2319Ser)
|
|
|
NM_152564.5(VPS13B):c.6957T>C (p.Pro2319=)
|
|
|
NM_152564.5(VPS13B):c.6960A>G (p.Arg2320=)
|
rs1238316814
|
|
NM_152564.5(VPS13B):c.6962_6963delinsCG (p.Val2321Ala)
|
rs1833106696
|
|
NM_152564.5(VPS13B):c.6966C>T (p.Leu2322=)
|
|
|
NM_152564.5(VPS13B):c.6969C>G (p.Thr2323=)
|
rs2130343504
|
|
NM_152564.5(VPS13B):c.6969C>T (p.Thr2323=)
|
|
|
NM_152564.5(VPS13B):c.6970C>G (p.Leu2324Val)
|
rs2130343510
|
|
NM_152564.5(VPS13B):c.6979del (p.Arg2326_Ile2327insTer)
|
|
|
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs)
|
rs1554924412
|
|
NM_152564.5(VPS13B):c.6983C>T (p.Thr2328Ile)
|
|
|
NM_152564.5(VPS13B):c.6985C>G (p.Pro2329Ala)
|
|
|
NM_152564.5(VPS13B):c.6987T>C (p.Pro2329=)
|
rs2130343654
|
|
NM_152564.5(VPS13B):c.6988G>A (p.Val2330Ile)
|
|
|
NM_152564.5(VPS13B):c.6988G>T (p.Val2330Leu)
|
|
|
NM_152564.5(VPS13B):c.6990A>G (p.Val2330=)
|
|
|
NM_152564.5(VPS13B):c.6996T>C (p.Phe2332=)
|
|
|
NM_152564.5(VPS13B):c.6G>T (p.Leu2=)
|
rs752072948
|
|
NM_152564.5(VPS13B):c.7011T>C (p.Asp2337=)
|
|
|
NM_152564.5(VPS13B):c.7020del (p.Ser2341fs)
|
rs1833108141
|
|
NM_152564.5(VPS13B):c.7022G>A (p.Ser2341Asn)
|
rs2130343782
|
|
NM_152564.5(VPS13B):c.7032C>T (p.Asp2344=)
|
rs2130343837
|
|
NM_152564.5(VPS13B):c.7033C>G (p.Leu2345Val)
|
|
|
NM_152564.5(VPS13B):c.7040A>T (p.Asp2347Val)
|
rs1563881705
|
|
NM_152564.5(VPS13B):c.7041T>C (p.Asp2347=)
|
rs1253879066
|
|
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter)
|
rs767858119
|
|
NM_152564.5(VPS13B):c.7050+13C>G
|
|
|
NM_152564.5(VPS13B):c.7050+13C>T
|
|
|
NM_152564.5(VPS13B):c.7050+17C>A
|
|
|
NM_152564.5(VPS13B):c.7050+18A>G
|
|
|
NM_152564.5(VPS13B):c.7050+1G>T
|
rs1057516840
|
|
NM_152564.5(VPS13B):c.7050+2243A>G
|
|
|
NM_152564.5(VPS13B):c.7050+5G>A
|
rs1302816737
|
|
NM_152564.5(VPS13B):c.7050+9T>C
|
|
|
NM_152564.5(VPS13B):c.7051-11T>C
|
|
|
NM_152564.5(VPS13B):c.7051-13T>A
|
|
|
NM_152564.5(VPS13B):c.7051-13del
|
|
|
NM_152564.5(VPS13B):c.7051-17T>G
|
|
|
NM_152564.5(VPS13B):c.7051-3dup
|
|
|
NM_152564.5(VPS13B):c.7051-5C>A
|
|
|
NM_152564.5(VPS13B):c.7051-7A>C
|
rs772934540
|
|
NM_152564.5(VPS13B):c.7062C>T (p.Ser2354=)
|
rs2130621143
|
|
NM_152564.5(VPS13B):c.706A>G (p.Thr236Ala)
|
rs1847346139
|
|
NM_152564.5(VPS13B):c.7071C>T (p.Tyr2357=)
|
|
|
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter)
|
rs1057516559
|
|
NM_152564.5(VPS13B):c.7085A>G (p.Gln2362Arg)
|
|
|
NM_152564.5(VPS13B):c.7086G>A (p.Gln2362=)
|
|
|
NM_152564.5(VPS13B):c.7088A>T (p.Lys2363Met)
|
|
|
NM_152564.5(VPS13B):c.7089G>A (p.Lys2363=)
|
|
|
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs)
|
rs1554948192
|
|
NM_152564.5(VPS13B):c.709_713del (p.Arg237fs)
|
|
|
NM_152564.5(VPS13B):c.7101A>G (p.Ala2367=)
|
|
|
NM_152564.5(VPS13B):c.7106G>A (p.Arg2369Lys)
|
|
|
NM_152564.5(VPS13B):c.7116T>A (p.Asn2372Lys)
|
|
|
NM_152564.5(VPS13B):c.7116T>C (p.Asn2372=)
|
|
|
NM_152564.5(VPS13B):c.7119G>A (p.Leu2373=)
|
|
|
NM_152564.5(VPS13B):c.7119G>C (p.Leu2373=)
|
|
|
NM_152564.5(VPS13B):c.7135del (p.Cys2379fs)
|
rs2130621458
|
|
NM_152564.5(VPS13B):c.7136G>T (p.Cys2379Phe)
|
rs1373068816
|
|
NM_152564.5(VPS13B):c.7137T>C (p.Cys2379=)
|
|
|
NM_152564.5(VPS13B):c.7141C>G (p.Leu2381Val)
|
|
|
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter)
|
|
|
NM_152564.5(VPS13B):c.7146G>A (p.Gln2382=)
|
rs542396703
|
|
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs)
|
rs386834105
|
|
NM_152564.5(VPS13B):c.7147_7149del (p.Leu2383del)
|
rs2130621539
|
|
NM_152564.5(VPS13B):c.7151C>G (p.Pro2384Arg)
|
rs183874686
|
|
NM_152564.5(VPS13B):c.7153G>A (p.Asp2385Asn)
|
rs1347208371
|
|
NM_152564.5(VPS13B):c.7156A>T (p.Ile2386Phe)
|
rs370689956
|
|
NM_152564.5(VPS13B):c.7159A>C (p.Asn2387His)
|
rs915120404
|
|
NM_152564.5(VPS13B):c.7163T>A (p.Leu2388His)
|
|
|
NM_152564.5(VPS13B):c.7173C>T (p.Asp2391=)
|
|
|
NM_152564.5(VPS13B):c.7176G>A (p.Gln2392=)
|
|
|
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter)
|
|
|
NM_152564.5(VPS13B):c.7179G>A (p.Lys2393=)
|
rs2130621684
|
|
NM_152564.5(VPS13B):c.7180A>G (p.Lys2394Glu)
|
|
|
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter)
|
rs1057516660
|
|
NM_152564.5(VPS13B):c.7184T>G (p.Leu2395Ter)
|
|
|
NM_152564.5(VPS13B):c.7185A>G (p.Leu2395=)
|
|
|
NM_152564.5(VPS13B):c.7186G>A (p.Val2396Ile)
|
|
|
NM_152564.5(VPS13B):c.7190del (p.Ser2397fs)
|
|
|
NM_152564.5(VPS13B):c.7191_7192del (p.Ser2398fs)
|
rs1811255718
|
|
NM_152564.5(VPS13B):c.7195G>A (p.Asp2399Asn)
|
rs1563907935
|
|
NM_152564.5(VPS13B):c.7200T>G (p.Leu2400=)
|
|
|
NM_152564.5(VPS13B):c.7204A>G (p.Arg2402Gly)
|
|
|
NM_152564.5(VPS13B):c.7206A>G (p.Arg2402=)
|
rs2130621835
|
|
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs)
|
rs886041184
|
|
NM_152564.5(VPS13B):c.7218C>T (p.Asn2406=)
|
rs2130621889
|
|
NM_152564.5(VPS13B):c.721A>G (p.Thr241Ala)
|
|
|
NM_152564.5(VPS13B):c.7227A>G (p.Gln2409=)
|
rs2130621938
|
|
NM_152564.5(VPS13B):c.722C>T (p.Thr241Ile)
|
|
|
NM_152564.5(VPS13B):c.7231G>A (p.Gly2411Arg)
|
rs2130621965
|
|
NM_152564.5(VPS13B):c.7235C>G (p.Ala2412Gly)
|
rs780093448
|
|
NM_152564.5(VPS13B):c.7239T>C (p.Asp2413=)
|
|
|
NM_152564.5(VPS13B):c.723A>C (p.Thr241=)
|
rs778049327
|
|
NM_152564.5(VPS13B):c.7246A>C (p.Ser2416Arg)
|
|
|
NM_152564.5(VPS13B):c.7247+10T>C
|
|
|
NM_152564.5(VPS13B):c.7247+11G>C
|
|
|
NM_152564.5(VPS13B):c.7247+12A>G
|
|
|
NM_152564.5(VPS13B):c.7247+15G>A
|
|
|
NM_152564.5(VPS13B):c.7247+17T>A
|
|
|
NM_152564.5(VPS13B):c.7247+17T>C
|
|
|
NM_152564.5(VPS13B):c.7247+18G>A
|
rs769448684
|
|
NM_152564.5(VPS13B):c.7247+19A>C
|
|
|
NM_152564.5(VPS13B):c.7247+19A>G
|
|
|
NM_152564.5(VPS13B):c.7247+2T>C
|
rs1563908020
|
|
NM_152564.5(VPS13B):c.7247+8A>C
|
rs2130622077
|
|
NM_152564.5(VPS13B):c.7247+9T>A
|
|
|
NM_152564.5(VPS13B):c.7248-11C>A
|
|
|
NM_152564.5(VPS13B):c.7248-16C>T
|
|
|
NM_152564.5(VPS13B):c.7248-1G>C
|
rs763079458
|
|
NM_152564.5(VPS13B):c.7248-4A>G
|
rs2130667870
|
|
NM_152564.5(VPS13B):c.7248-6C>T
|
|
|
NM_152564.5(VPS13B):c.7248-9T>G
|
|
|
NM_152564.5(VPS13B):c.7250C>T (p.Ser2417Phe)
|
|
|
NM_152564.5(VPS13B):c.7259A>G (p.Glu2420Gly)
|
rs1811762443
|
|
NM_152564.5(VPS13B):c.725A>T (p.Tyr242Phe)
|
|
|
NM_152564.5(VPS13B):c.7263T>C (p.Ser2421=)
|
|
|
NM_152564.5(VPS13B):c.726T>C (p.Tyr242=)
|
|
|
NM_152564.5(VPS13B):c.7273A>C (p.Ser2425Arg)
|
|
|
NM_152564.5(VPS13B):c.7276A>G (p.Thr2426Ala)
|
rs2130667997
|
|
NM_152564.5(VPS13B):c.7277C>G (p.Thr2426Ser)
|
rs1811763232
|
|
NM_152564.5(VPS13B):c.728A>G (p.Glu243Gly)
|
|
|
NM_152564.5(VPS13B):c.7293G>A (p.Val2431=)
|
|
|
NM_152564.5(VPS13B):c.7295C>T (p.Thr2432Ile)
|
rs2130668061
|
|
NM_152564.5(VPS13B):c.7299A>G (p.Pro2433=)
|
rs2130668083
|
|
NM_152564.5(VPS13B):c.7302A>G (p.Thr2434=)
|
rs1811764109
|
|
NM_152564.5(VPS13B):c.7305C>T (p.Ala2435=)
|
|
|
NM_152564.5(VPS13B):c.7306C>T (p.Leu2436=)
|
|
|
NM_152564.5(VPS13B):c.7308G>T (p.Leu2436=)
|
|
|
NM_152564.5(VPS13B):c.7311T>G (p.Ala2437=)
|
rs2130668146
|
|
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs)
|
rs1554952465
|
|
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs)
|
rs1554952467
|
|
NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter)
|
|
|
NM_152564.5(VPS13B):c.7326T>A (p.Val2442=)
|
rs2130668217
|
|
NM_152564.5(VPS13B):c.7326T>C (p.Val2442=)
|
|
|
NM_152564.5(VPS13B):c.7329C>T (p.Asp2443=)
|
rs2130668225
|
|
NM_152564.5(VPS13B):c.7330T>A (p.Ser2444Thr)
|
rs373779146
|
|
NM_152564.5(VPS13B):c.7334G>C (p.Cys2445Ser)
|
|
|
NM_152564.5(VPS13B):c.7344A>G (p.Pro2448=)
|
|
|
NM_152564.5(VPS13B):c.7344A>T (p.Pro2448=)
|
|
|
NM_152564.5(VPS13B):c.7347G>T (p.Trp2449Cys)
|
|
|
NM_152564.5(VPS13B):c.7351G>A (p.Val2451Ile)
|
|
|
NM_152564.5(VPS13B):c.7353C>T (p.Val2451=)
|
rs1232917163
|
|
NM_152564.5(VPS13B):c.735A>G (p.Leu245=)
|
|
|
NM_152564.5(VPS13B):c.7362T>C (p.Leu2454=)
|
rs2130668372
|
|
NM_152564.5(VPS13B):c.7362T>G (p.Leu2454=)
|
|
|
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs)
|
rs1811766430
|
|
NM_152564.5(VPS13B):c.7367T>C (p.Val2456Ala)
|
rs1811766657
|
|
NM_152564.5(VPS13B):c.7370C>G (p.Ser2457Cys)
|
rs773594659
|
|
NM_152564.5(VPS13B):c.7374C>T (p.Phe2458=)
|
|
|
NM_152564.5(VPS13B):c.738T>C (p.Asn246=)
|
|
|
NM_152564.5(VPS13B):c.7395C>T (p.Phe2465=)
|
rs2130668529
|
|
NM_152564.5(VPS13B):c.7396del (p.His2466fs)
|
rs1554952554
|
|
NM_152564.5(VPS13B):c.7406A>G (p.His2469Arg)
|
|
|
NM_152564.5(VPS13B):c.7410C>T (p.His2470=)
|
|
|
NM_152564.5(VPS13B):c.7416C>T (p.Asp2472=)
|
|
|
NM_152564.5(VPS13B):c.7422A>C (p.Leu2474=)
|
|
|
NM_152564.5(VPS13B):c.7423G>C (p.Gly2475Arg)
|
|
|
NM_152564.5(VPS13B):c.7424G>A (p.Gly2475Asp)
|
rs2130668636
|
|
NM_152564.5(VPS13B):c.7426A>G (p.Thr2476Ala)
|
rs2130668658
|
|
NM_152564.5(VPS13B):c.7427C>A (p.Thr2476Lys)
|
rs2130668663
|
|
NM_152564.5(VPS13B):c.7429+11T>C
|
rs1811770416
|
|
NM_152564.5(VPS13B):c.7429+13T>A
|
|
|
NM_152564.5(VPS13B):c.7429+14del
|
|
|
NM_152564.5(VPS13B):c.7429+14dup
|
rs747441995
|
|
NM_152564.5(VPS13B):c.7429+15A>T
|
rs1002318603
|
|
NM_152564.5(VPS13B):c.7429+17C>G
|
|
|
NM_152564.5(VPS13B):c.7429+17C>T
|
|
|
NM_152564.5(VPS13B):c.7429+18A>C
|
rs374929892
|
|
NM_152564.5(VPS13B):c.7429+2T>C
|
rs1057517393
|
|
NM_152564.5(VPS13B):c.7429+3A>G
|
rs1811769162
|
|
NM_152564.5(VPS13B):c.7429+6C>T
|
rs1563912462
|
|
NM_152564.5(VPS13B):c.7429+7T>C
|
rs2130668728
|
|
NM_152564.5(VPS13B):c.7430-13_7430-10del
|
rs1194238958
|
|
NM_152564.5(VPS13B):c.7430-14T>C
|
|
|
NM_152564.5(VPS13B):c.7430-17G>C
|
|
|
NM_152564.5(VPS13B):c.7430-7T>G
|
|
|
NM_152564.5(VPS13B):c.7430C>T (p.Ala2477Val)
|
rs761890013
|
|
NM_152564.5(VPS13B):c.7437A>G (p.Pro2479=)
|
|
|
NM_152564.5(VPS13B):c.7446A>G (p.Leu2482=)
|
|
|
NM_152564.5(VPS13B):c.7447C>T (p.Gln2483Ter)
|
rs980463746
|
|
NM_152564.5(VPS13B):c.7449G>A (p.Gln2483=)
|
|
|
NM_152564.5(VPS13B):c.744G>T (p.Lys248Asn)
|
rs2132482090
|
|
NM_152564.5(VPS13B):c.7453T>C (p.Phe2485Leu)
|
rs1811864935
|
|
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=)
|
rs751190453
|
|
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn)
|
rs780602782
|
|
NM_152564.5(VPS13B):c.7464C>T (p.Asp2488=)
|
rs990040393
|
|
NM_152564.5(VPS13B):c.7466G>T (p.Arg2489Ile)
|
rs1438199361
|
|
NM_152564.5(VPS13B):c.746T>C (p.Met249Thr)
|
rs1251254222
|
|
NM_152564.5(VPS13B):c.7472T>G (p.Met2491Arg)
|
rs1588704212
|
|
NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter)
|
|
|
NM_152564.5(VPS13B):c.7491C>T (p.Tyr2497=)
|
|
|
NM_152564.5(VPS13B):c.7498_7501del (p.Val2500fs)
|
|
|
NM_152564.5(VPS13B):c.74A>T (p.Asp25Val)
|
rs1841449266
|
|
NM_152564.5(VPS13B):c.7503C>T (p.Ser2501=)
|
rs2130678510
|
|
NM_152564.5(VPS13B):c.7508G>A (p.Arg2503Lys)
|
rs2130678538
|
|
NM_152564.5(VPS13B):c.7509A>G (p.Arg2503=)
|
rs2130678548
|
|
NM_152564.5(VPS13B):c.7518C>T (p.His2506=)
|
|
|
NM_152564.5(VPS13B):c.7520T>C (p.Met2507Thr)
|
|
|
NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val)
|
rs1811867338
|
|
NM_152564.5(VPS13B):c.7527T>A (p.Leu2509=)
|
|
|
NM_152564.5(VPS13B):c.7533G>A (p.Gln2511=)
|
|
|
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter)
|
rs386834108
|
|
NM_152564.5(VPS13B):c.7536G>C (p.Trp2512Cys)
|
rs1434963421
|
|
NM_152564.5(VPS13B):c.7536G>T (p.Trp2512Cys)
|
rs1434963421
|
|
NM_152564.5(VPS13B):c.7540A>G (p.Asn2514Asp)
|
rs1811867927
|
|
NM_152564.5(VPS13B):c.7545T>A (p.Gly2515=)
|
rs2130678759
|
|
NM_152564.5(VPS13B):c.7547C>G (p.Ser2516Cys)
|
rs2130678778
|
|
NM_152564.5(VPS13B):c.7549G>A (p.Val2517Ile)
|
rs946554822
|
|
NM_152564.5(VPS13B):c.7551C>A (p.Val2517=)
|
rs1811868664
|
|
NM_152564.5(VPS13B):c.7552T>C (p.Cys2518Arg)
|
|
|
NM_152564.5(VPS13B):c.7554T>C (p.Cys2518=)
|
|
|
NM_152564.5(VPS13B):c.7555C>T (p.Gln2519Ter)
|
|
|
NM_152564.5(VPS13B):c.7558G>T (p.Glu2520Ter)
|
rs2130678821
|
|
NM_152564.5(VPS13B):c.7564del (p.Gln2522fs)
|
|
|
NM_152564.5(VPS13B):c.7565A>G (p.Gln2522Arg)
|
|
|
NM_152564.5(VPS13B):c.7568_7569delinsAA (p.Phe2523Ter)
|
|
|
NM_152564.5(VPS13B):c.7569C>T (p.Phe2523=)
|
rs776907826
|
|
NM_152564.5(VPS13B):c.7576C>G (p.Gln2526Glu)
|
|
|
NM_152564.5(VPS13B):c.7576C>T (p.Gln2526Ter)
|
rs1811869155
|
|
NM_152564.5(VPS13B):c.7594C>G (p.Leu2532Val)
|
|
|
NM_152564.5(VPS13B):c.7599G>A (p.Glu2533=)
|
|
|
NM_152564.5(VPS13B):c.75T>C (p.Asp25=)
|
|
|
NM_152564.5(VPS13B):c.7603A>C (p.Arg2535=)
|
rs2130678967
|
|
NM_152564.5(VPS13B):c.7606A>G (p.Asn2536Asp)
|
rs979347048
|
|
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter)
|
rs910393433
|
|
NM_152564.5(VPS13B):c.7610T>C (p.Val2537Ala)
|
rs751188155
|
|
NM_152564.5(VPS13B):c.7610T>G (p.Val2537Gly)
|
|
|
NM_152564.5(VPS13B):c.7616T>G (p.Met2539Arg)
|
rs1290655527
|
|
NM_152564.5(VPS13B):c.7617G>A (p.Met2539Ile)
|
|
|
NM_152564.5(VPS13B):c.7618C>G (p.Gln2540Glu)
|
|
|
NM_152564.5(VPS13B):c.761A>G (p.Lys254Arg)
|
|
|
NM_152564.5(VPS13B):c.762+11C>T
|
|
|
NM_152564.5(VPS13B):c.762+11_762+12insA
|
|
|
NM_152564.5(VPS13B):c.762+19dup
|
rs770716174
|
|
NM_152564.5(VPS13B):c.762+1G>A
|
|
|
NM_152564.5(VPS13B):c.762+20_762+21delinsAA
|
|
|
NM_152564.5(VPS13B):c.762+2T>C
|
rs1588048848
|
|
NM_152564.5(VPS13B):c.762+4G>A
|
rs2132482160
|
|
NM_152564.5(VPS13B):c.762+5G>T
|
rs1847351205
|
|
NM_152564.5(VPS13B):c.762+5_762+6dup
|
rs2132482179
|
|
NM_152564.5(VPS13B):c.762+7A>G
|
|
|
NM_152564.5(VPS13B):c.7624GTG[1] (p.Val2543del)
|
rs1811870870
|
|
NM_152564.5(VPS13B):c.7625T>C (p.Val2542Ala)
|
rs2130679096
|
|
NM_152564.5(VPS13B):c.7627G>T (p.Val2543Leu)
|
|
|
NM_152564.5(VPS13B):c.7629G>T (p.Val2543=)
|
|
|
NM_152564.5(VPS13B):c.763-18G>A
|
|
|
NM_152564.5(VPS13B):c.763-1G>T
|
|
|
NM_152564.5(VPS13B):c.763-20A>G
|
|
|
NM_152564.5(VPS13B):c.763-2118G>T
|
|
|
NM_152564.5(VPS13B):c.763-5T>C
|
rs1847622951
|
|
NM_152564.5(VPS13B):c.7634C>T (p.Pro2545Leu)
|
|
|
NM_152564.5(VPS13B):c.7648G>A (p.Gly2550Arg)
|
|
|
NM_152564.5(VPS13B):c.7650G>A (p.Gly2550=)
|
|
|
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter)
|
rs2130679206
|
|
NM_152564.5(VPS13B):c.7657G>A (p.Ala2553Thr)
|
|
|
NM_152564.5(VPS13B):c.7658C>T (p.Ala2553Val)
|
rs2130679255
|
|
NM_152564.5(VPS13B):c.7659A>G (p.Ala2553=)
|
rs776995646
|
|
NM_152564.5(VPS13B):c.7659A>T (p.Ala2553=)
|
rs776995646
|
|
NM_152564.5(VPS13B):c.7665C>T (p.Ser2555=)
|
rs2130679322
|
|
NM_152564.5(VPS13B):c.7671T>C (p.Asp2557=)
|
rs1414554416
|
|
NM_152564.5(VPS13B):c.7673T>C (p.Val2558Ala)
|
|
|
NM_152564.5(VPS13B):c.7677G>A (p.Val2559=)
|
rs373165767
|
|
NM_152564.5(VPS13B):c.7683G>A (p.Lys2561=)
|
|
|
NM_152564.5(VPS13B):c.7683G>T (p.Lys2561Asn)
|
rs1205859728
|
|
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs)
|
rs771308343
|
|
NM_152564.5(VPS13B):c.7684C>T (p.Leu2562=)
|
rs1001869077
|
|
NM_152564.5(VPS13B):c.7689T>C (p.Leu2563=)
|
rs2130679519
|
|
NM_152564.5(VPS13B):c.7691A>G (p.Asp2564Gly)
|
rs2130679527
|
|
NM_152564.5(VPS13B):c.7692C>T (p.Asp2564=)
|
|
|
NM_152564.5(VPS13B):c.7696A>G (p.Thr2566Ala)
|
|
|
NM_152564.5(VPS13B):c.7703T>C (p.Ile2568Thr)
|
rs1811877032
|
|
NM_152564.5(VPS13B):c.7706T>C (p.Val2569Ala)
|
rs1434588029
|
|
NM_152564.5(VPS13B):c.7713T>C (p.Ser2571=)
|
|
|
NM_152564.5(VPS13B):c.7713T>G (p.Ser2571=)
|
|
|
NM_152564.5(VPS13B):c.7728T>C (p.Leu2576=)
|
|
|
NM_152564.5(VPS13B):c.7731A>G (p.Gly2577=)
|
rs921182844
|
|
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter)
|
|
|
NM_152564.5(VPS13B):c.7734_7746del (p.Gln2578fs)
|
rs2130679794
|
|
NM_152564.5(VPS13B):c.7737T>A (p.His2579Gln)
|
rs147593451
|
|
NM_152564.5(VPS13B):c.7740A>C (p.Val2580=)
|
rs1281733005
|
|
NM_152564.5(VPS13B):c.7749A>G (p.Ser2583=)
|
|
|
NM_152564.5(VPS13B):c.7750C>G (p.Leu2584Val)
|
rs774362514
|
|
NM_152564.5(VPS13B):c.7750C>T (p.Leu2584=)
|
|
|
NM_152564.5(VPS13B):c.7777del (p.Gln2593fs)
|
rs2130680017
|
|
NM_152564.5(VPS13B):c.7779+1G>C
|
|
|
NM_152564.5(VPS13B):c.7779+1G>T
|
|
|
NM_152564.5(VPS13B):c.7779+5G>T
|
rs1454252779
|
|
NM_152564.5(VPS13B):c.7779+8C>T
|
|
|
NM_152564.5(VPS13B):c.7779+9A>G
|
|
|
NM_152564.5(VPS13B):c.7779G>A (p.Gln2593=)
|
rs796478997
|
|
NM_152564.5(VPS13B):c.7779G>C (p.Gln2593His)
|
|
|
NM_152564.5(VPS13B):c.777G>C (p.Val259=)
|
rs2132497634
|
|
NM_152564.5(VPS13B):c.7780-16A>G
|
|
|
NM_152564.5(VPS13B):c.7780-18G>A
|
rs781012951
|
|
NM_152564.5(VPS13B):c.7780-22_7780-19del
|
|
|
NM_152564.5(VPS13B):c.7780-7C>T
|
|
|
NM_152564.5(VPS13B):c.7780-8T>C
|
|
|
NM_152564.5(VPS13B):c.7780-9T>C
|
rs1177759534
|
|
NM_152564.5(VPS13B):c.7797A>G (p.Val2599=)
|
rs760168037
|
|
NM_152564.5(VPS13B):c.7815C>T (p.Ser2605=)
|
|
|
NM_152564.5(VPS13B):c.7820T>C (p.Phe2607Ser)
|
|
|
NM_152564.5(VPS13B):c.7821T>C (p.Phe2607=)
|
rs1229910112
|
|
NM_152564.5(VPS13B):c.7828del (p.Cys2610fs)
|
rs1812158350
|
|
NM_152564.5(VPS13B):c.7833T>C (p.Asn2611=)
|
|
|
NM_152564.5(VPS13B):c.7840C>A (p.Gln2614Lys)
|
|
|
NM_152564.5(VPS13B):c.7845G>A (p.Glu2615=)
|
rs2130702451
|
|
NM_152564.5(VPS13B):c.7847C>T (p.Thr2616Ile)
|
rs1812159282
|
|
NM_152564.5(VPS13B):c.7849C>T (p.Leu2617=)
|
|
|
NM_152564.5(VPS13B):c.7850T>C (p.Leu2617Pro)
|
rs1563916076
|
|
NM_152564.5(VPS13B):c.7852C>A (p.Arg2618=)
|
rs779101063
|
|
NM_152564.5(VPS13B):c.7852C>T (p.Arg2618Trp)
|
|
|
NM_152564.5(VPS13B):c.7854G>A (p.Arg2618=)
|
|
|
NM_152564.5(VPS13B):c.7854G>T (p.Arg2618=)
|
|
|
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp)
|
rs120074153
|
|
NM_152564.5(VPS13B):c.7860C>A (p.Gly2620=)
|
|
|
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs)
|
rs386834109
|
|
NM_152564.5(VPS13B):c.7864del (p.Val2622fs)
|
|
|
NM_152564.5(VPS13B):c.7880A>C (p.Asn2627Thr)
|
rs886062544
|
|
NM_152564.5(VPS13B):c.7890G>A (p.Leu2630=)
|
|
|
NM_152564.5(VPS13B):c.7896T>C (p.Ser2632=)
|
rs1563916146
|
|
NM_152564.5(VPS13B):c.7911G>A (p.Gln2637=)
|
rs2130702705
|
|
NM_152564.5(VPS13B):c.7917C>T (p.Ser2639=)
|
rs2130702727
|
|
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter)
|
rs2130702734
|
|
NM_152564.5(VPS13B):c.7926T>A (p.Ser2642=)
|
|
|
NM_152564.5(VPS13B):c.7926T>C (p.Ser2642=)
|
|
|
NM_152564.5(VPS13B):c.7929C>T (p.His2643=)
|
rs2130702779
|
|
NM_152564.5(VPS13B):c.7934C>G (p.Ser2645Cys)
|
rs1812163324
|
|
NM_152564.5(VPS13B):c.7941+12A>G
|
rs1275998375
|
|
NM_152564.5(VPS13B):c.7941+15C>A
|
|
|
NM_152564.5(VPS13B):c.7941+16C>A
|
rs1484297251
|
|
NM_152564.5(VPS13B):c.7941+18T>A
|
|
|
NM_152564.5(VPS13B):c.7941+18T>C
|
|
|
NM_152564.5(VPS13B):c.7941+1G>A
|
rs1554955952
|
|
NM_152564.5(VPS13B):c.7941+20_7941+42del
|
rs769286340
|
|
NM_152564.5(VPS13B):c.7941+6T>C
|
|
|
NM_152564.5(VPS13B):c.7941+7G>C
|
rs764563210
|
|
NM_152564.5(VPS13B):c.7941+9G>A
|
|
|
NM_152564.5(VPS13B):c.7942-12T>C
|
|
|
NM_152564.5(VPS13B):c.7942-16T>C
|
|
|
NM_152564.5(VPS13B):c.7942-4C>G
|
|
|
NM_152564.5(VPS13B):c.7942-6dup
|
rs2130785582
|
|
NM_152564.5(VPS13B):c.7942-7dup
|
|
|
NM_152564.5(VPS13B):c.7942-8T>G
|
|
|
NM_152564.5(VPS13B):c.7942C>G (p.Leu2648Val)
|
rs765442907
|
|
NM_152564.5(VPS13B):c.7942C>T (p.Leu2648=)
|
|
|
NM_152564.5(VPS13B):c.7946T>A (p.Leu2649Ter)
|
rs2130785617
|
|
NM_152564.5(VPS13B):c.7951A>G (p.Ile2651Val)
|
rs1588732028
|
|
NM_152564.5(VPS13B):c.7953C>A (p.Ile2651=)
|
rs2130785637
|
|
NM_152564.5(VPS13B):c.7954T>G (p.Cys2652Gly)
|
|
|
NM_152564.5(VPS13B):c.7958T>C (p.Ile2653Thr)
|
rs1813583407
|
|
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs)
|
rs1554622608
|
|
NM_152564.5(VPS13B):c.7960G>A (p.Glu2654Lys)
|
rs2130785652
|
|
NM_152564.5(VPS13B):c.7963G>C (p.Gly2655Arg)
|
rs1433870539
|
|
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs)
|
rs1554560668
|
|
NM_152564.5(VPS13B):c.7965T>A (p.Gly2655=)
|
rs758430817
|
|
NM_152564.5(VPS13B):c.7969_7983del (p.Gly2657_Trp2661del)
|
rs1554560677
|
|
NM_152564.5(VPS13B):c.7980T>A (p.Arg2660=)
|
|
|
NM_152564.5(VPS13B):c.7980T>C (p.Arg2660=)
|
|
|
NM_152564.5(VPS13B):c.7980T>G (p.Arg2660=)
|
|
|
NM_152564.5(VPS13B):c.7982G>A (p.Trp2661Ter)
|
|
|
NM_152564.5(VPS13B):c.7985C>G (p.Ser2662Ter)
|
rs1813585665
|
|
NM_152564.5(VPS13B):c.7986A>G (p.Ser2662=)
|
rs2130785744
|
|
NM_152564.5(VPS13B):c.7989G>A (p.Glu2663=)
|
|
|
NM_152564.5(VPS13B):c.7995C>G (p.Phe2665Leu)
|
|
|
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)
|
|
|
NM_152564.5(VPS13B):c.8001G>A (p.Val2667=)
|
|
|
NM_152564.5(VPS13B):c.8015del (p.Thr2672fs)
|
|
|
NM_152564.5(VPS13B):c.8022T>C (p.Ile2674=)
|
|
|
NM_152564.5(VPS13B):c.8032C>T (p.Gln2678Ter)
|
|
|
NM_152564.5(VPS13B):c.8034G>T (p.Gln2678His)
|
|
|
NM_152564.5(VPS13B):c.8035T>C (p.Tyr2679His)
|
|
|
NM_152564.5(VPS13B):c.803del (p.Asp268fs)
|
rs1554622622
|
|
NM_152564.5(VPS13B):c.8040G>A (p.Arg2680=)
|
|
|
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs)
|
rs1554560735
|
|
NM_152564.5(VPS13B):c.8049T>A (p.Thr2683=)
|
rs765550072
|
|
NM_152564.5(VPS13B):c.8058C>T (p.Leu2686=)
|
rs1813589023
|
|
NM_152564.5(VPS13B):c.8060T>C (p.Ile2687Thr)
|
rs2130785937
|
|
NM_152564.5(VPS13B):c.8061C>G (p.Ile2687Met)
|
|
|
NM_152564.5(VPS13B):c.8068G>T (p.Val2690Phe)
|
|
|
NM_152564.5(VPS13B):c.8070T>C (p.Val2690=)
|
rs2130785985
|
|
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs)
|
rs1813589674
|
|
NM_152564.5(VPS13B):c.8073G>A (p.Gln2691=)
|
rs2130785995
|
|
NM_152564.5(VPS13B):c.8074C>G (p.Gln2692Glu)
|
|
|
NM_152564.5(VPS13B):c.8075A>C (p.Gln2692Pro)
|
rs1588732177
|
|
NM_152564.5(VPS13B):c.8077C>T (p.Leu2693Phe)
|
rs984666923
|
|
NM_152564.5(VPS13B):c.807A>G (p.Gln269=)
|
rs775213704
|
|
NM_152564.5(VPS13B):c.8081A>G (p.Asn2694Ser)
|
|
|
NM_152564.5(VPS13B):c.8097+12del
|
|
|
NM_152564.5(VPS13B):c.8097+18C>G
|
|
|
NM_152564.5(VPS13B):c.8097+20T>C
|
|
|
NM_152564.5(VPS13B):c.8097+7T>G
|
|
|
NM_152564.5(VPS13B):c.8098-19A>G
|
|
|
NM_152564.5(VPS13B):c.8098-1G>C
|
rs1554565484
|
|
NM_152564.5(VPS13B):c.8098-7C>T
|
|
|
NM_152564.5(VPS13B):c.8098-8T>A
|
|
|
NM_152564.5(VPS13B):c.8098-9G>A
|
|
|
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg)
|
rs1587912461
|
|
NM_152564.5(VPS13B):c.8106C>T (p.Ile2702=)
|
|
|
NM_152564.5(VPS13B):c.8107T>C (p.Cys2703Arg)
|
rs2130810579
|
|
NM_152564.5(VPS13B):c.810A>G (p.Gln270=)
|
rs1169945660
|
|
NM_152564.5(VPS13B):c.8121C>G (p.Ile2707Met)
|
|
|
NM_152564.5(VPS13B):c.8126G>A (p.Cys2709Tyr)
|
|
|
NM_152564.5(VPS13B):c.812T>G (p.Leu271Arg)
|
|
|
NM_152564.5(VPS13B):c.8133C>G (p.Tyr2711Ter)
|
|
|
NM_152564.5(VPS13B):c.8133C>T (p.Tyr2711=)
|
|
|
NM_152564.5(VPS13B):c.8136G>A (p.Leu2712=)
|
|
|
NM_152564.5(VPS13B):c.8140C>T (p.Gln2714Ter)
|
|
|
NM_152564.5(VPS13B):c.8142A>T (p.Gln2714His)
|
|
|
NM_152564.5(VPS13B):c.8143dup (p.Ser2715fs)
|
rs2130810644
|
|
NM_152564.5(VPS13B):c.8160C>T (p.Val2720=)
|
rs373348061
|
|
NM_152564.5(VPS13B):c.816T>C (p.Pro272=)
|
|
|
NM_152564.5(VPS13B):c.816dup (p.Met273fs)
|
rs1554622647
|
|
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs)
|
rs1554565537
|
|
NM_152564.5(VPS13B):c.817A>G (p.Met273Val)
|
|
|
NM_152564.5(VPS13B):c.817_818del (p.Met273fs)
|
rs2132497770
|
|
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs)
|
rs1554565558
|
|
NM_152564.5(VPS13B):c.8194del (p.Ala2731_Val2732insTer)
|
|
|
NM_152564.5(VPS13B):c.8205A>G (p.Glu2735=)
|
|
|
NM_152564.5(VPS13B):c.8206_8207dup (p.Phe2737fs)
|
|
|
NM_152564.5(VPS13B):c.8215dup (p.Cys2739fs)
|
|
|
NM_152564.5(VPS13B):c.821T>G (p.Phe274Cys)
|
rs1847625470
|
|
NM_152564.5(VPS13B):c.8228A>G (p.Lys2743Arg)
|
|
|
NM_152564.5(VPS13B):c.8229A>G (p.Lys2743=)
|
rs2130810840
|
|
NM_152564.5(VPS13B):c.8230C>T (p.Gln2744Ter)
|
rs2130810847
|
|
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu)
|
rs180177370
|
|
NM_152564.5(VPS13B):c.8247C>T (p.Tyr2749=)
|
|
|
NM_152564.5(VPS13B):c.8250A>C (p.Ile2750=)
|
|
|
NM_152564.5(VPS13B):c.8253A>G (p.Leu2751=)
|
|
|
NM_152564.5(VPS13B):c.8254G>C (p.Glu2752Gln)
|
|
|
NM_152564.5(VPS13B):c.8255A>G (p.Glu2752Gly)
|
rs1563488856
|
|
NM_152564.5(VPS13B):c.8262T>C (p.Asn2754=)
|
|
|
NM_152564.5(VPS13B):c.8266C>G (p.Leu2756Val)
|
|
|
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer)
|
rs386834111
|
|
NM_152564.5(VPS13B):c.8268G>A (p.Leu2756=)
|
|
|
NM_152564.5(VPS13B):c.8268G>C (p.Leu2756=)
|
|
|
NM_152564.5(VPS13B):c.8269A>G (p.Thr2757Ala)
|
rs750066675
|
|
NM_152564.5(VPS13B):c.8274G>A (p.Glu2758=)
|
rs2130810962
|
|
NM_152564.5(VPS13B):c.8277G>A (p.Leu2759=)
|
|
|
NM_152564.5(VPS13B):c.8277G>C (p.Leu2759=)
|
rs1232285251
|
|
NM_152564.5(VPS13B):c.8281G>T (p.Val2761Leu)
|
rs886062545
|
|
NM_152564.5(VPS13B):c.8285del (p.Lys2762fs)
|
|
|
NM_152564.5(VPS13B):c.8287del (p.Ala2763fs)
|
rs1554565645
|
|
NM_152564.5(VPS13B):c.8292A>G (p.Lys2764=)
|
rs2130810986
|
|
NM_152564.5(VPS13B):c.8297A>T (p.Asp2766Val)
|
|
|
NM_152564.5(VPS13B):c.8298T>C (p.Asp2766=)
|
rs1563488890
|
|
NM_152564.5(VPS13B):c.8300A>C (p.Glu2767Ala)
|
|
|
NM_152564.5(VPS13B):c.8309C>G (p.Ser2770Ter)
|
|
|
NM_152564.5(VPS13B):c.8313A>G (p.Arg2771=)
|
|
|
NM_152564.5(VPS13B):c.8316T>C (p.Asp2772=)
|
|
|
NM_152564.5(VPS13B):c.8319G>A (p.Val2773=)
|
rs2130811053
|
|
NM_152564.5(VPS13B):c.8323C>T (p.Leu2775=)
|
rs1814130701
|
|
NM_152564.5(VPS13B):c.832A>T (p.Met278Leu)
|
|
|
NM_152564.5(VPS13B):c.8330C>T (p.Ser2777Phe)
|
rs2130811098
|
|
NM_152564.5(VPS13B):c.8337C>A (p.Ala2779=)
|
rs1177301291
|
|
NM_152564.5(VPS13B):c.8339C>G (p.Pro2780Arg)
|
|
|
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter)
|
rs1379711249
|
|
NM_152564.5(VPS13B):c.8346C>T (p.Tyr2782=)
|
|
|
NM_152564.5(VPS13B):c.8346_8350del (p.Ser2783fs)
|
|
|
NM_152564.5(VPS13B):c.8352T>C (p.Ile2784=)
|
|
|
NM_152564.5(VPS13B):c.8355C>T (p.Val2785=)
|
|
|
NM_152564.5(VPS13B):c.8361+15T>C
|
|
|
NM_152564.5(VPS13B):c.8361+18A>G
|
rs1301774020
|
|
NM_152564.5(VPS13B):c.8361+1G>A
|
rs542757501
|
|
NM_152564.5(VPS13B):c.8361+20C>G
|
|
|
NM_152564.5(VPS13B):c.8361+3T>C
|
|
|
NM_152564.5(VPS13B):c.8362-1G>C
|
|
|
NM_152564.5(VPS13B):c.8362-5_8362-4del
|
rs2130812960
|
|
NM_152564.5(VPS13B):c.8362-6G>A
|
rs1294053663
|
|
NM_152564.5(VPS13B):c.8362-6G>T
|
rs1294053663
|
|
NM_152564.5(VPS13B):c.8362-8A>C
|
rs767065362
|
|
NM_152564.5(VPS13B):c.8362-8A>G
|
rs767065362
|
|
NM_152564.5(VPS13B):c.8362-8A>T
|
rs767065362
|
|
NM_152564.5(VPS13B):c.8362G>T (p.Val2788Leu)
|
|
|
NM_152564.5(VPS13B):c.8365C>T (p.Pro2789Ser)
|
rs1814171272
|
|
NM_152564.5(VPS13B):c.8367A>G (p.Pro2789=)
|
|
|
NM_152564.5(VPS13B):c.8369C>T (p.Ser2790Phe)
|
|
|
NM_152564.5(VPS13B):c.8374A>T (p.Asn2792Tyr)
|
|
|
NM_152564.5(VPS13B):c.8381C>A (p.Ser2794Tyr)
|
|
|
NM_152564.5(VPS13B):c.8382C>G (p.Ser2794=)
|
rs1350773456
|
|
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr)
|
rs120074155
|
|
NM_152564.5(VPS13B):c.8386dup (p.Ile2796fs)
|
|
|
NM_152564.5(VPS13B):c.8394C>A (p.Val2798=)
|
|
|
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter)
|
rs1057516484
|
|
NM_152564.5(VPS13B):c.8405T>C (p.Val2802Ala)
|
rs1814173866
|
|
NM_152564.5(VPS13B):c.840T>G (p.Leu280=)
|
|
|
NM_152564.5(VPS13B):c.8414T>C (p.Leu2805Ser)
|
|
|
NM_152564.5(VPS13B):c.8420_8426delinsGA (p.Pro2807fs)
|
|
|
NM_152564.5(VPS13B):c.8421C>G (p.Pro2807=)
|
rs1252949783
|
|
NM_152564.5(VPS13B):c.8421del (p.Asn2808fs)
|
rs1588743576
|
|
NM_152564.5(VPS13B):c.8423A>T (p.Asn2808Ile)
|
|
|
NM_152564.5(VPS13B):c.8430del (p.Val2811fs)
|
rs2130813174
|
|
NM_152564.5(VPS13B):c.8435A>T (p.Gln2812Leu)
|
rs1814175380
|
|
NM_152564.5(VPS13B):c.8436A>G (p.Gln2812=)
|
|
|
NM_152564.5(VPS13B):c.8437C>T (p.Gln2813Ter)
|
rs2130813187
|
|
NM_152564.5(VPS13B):c.8439A>G (p.Gln2813=)
|
rs773210498
|
|
NM_152564.5(VPS13B):c.8443A>G (p.Met2815Val)
|
rs989835229
|
|
NM_152564.5(VPS13B):c.8444T>G (p.Met2815Arg)
|
rs1427709841
|
|
NM_152564.5(VPS13B):c.8445+13C>T
|
|
|
NM_152564.5(VPS13B):c.8445+14C>T
|
rs1814177467
|
|
NM_152564.5(VPS13B):c.8445+15A>C
|
|
|
NM_152564.5(VPS13B):c.8445+16A>G
|
|
|
NM_152564.5(VPS13B):c.8445+1G>C
|
|
|
NM_152564.5(VPS13B):c.8445+2T>C
|
rs1554566396
|
|
NM_152564.5(VPS13B):c.8445+7G>A
|
rs2130813249
|
|
NM_152564.5(VPS13B):c.8445+8C>G
|
|
|
NM_152564.5(VPS13B):c.8446-10A>C
|
|
|
NM_152564.5(VPS13B):c.8446-10_8446-6del
|
rs773159446
|
|
NM_152564.5(VPS13B):c.8446-16C>A
|
|
|
NM_152564.5(VPS13B):c.8446-18A>G
|
|
|
NM_152564.5(VPS13B):c.8446-18_8446-14del
|
rs767236603
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
NM_152564.5(VPS13B):c.8446-20C>A
|
|
|
NM_152564.5(VPS13B):c.8446-5del
|
rs760534492
|
|
NM_152564.5(VPS13B):c.8446-6T>G
|
|
|
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val)
|
rs373961820
|
|
NM_152564.5(VPS13B):c.8449G>A (p.Val2817Met)
|
rs1362379578
|
|
NM_152564.5(VPS13B):c.8460T>G (p.Pro2820=)
|
|
|
NM_152564.5(VPS13B):c.8461_8462del (p.Leu2821fs)
|
rs2130813849
|
|
NM_152564.5(VPS13B):c.8475_8477delinsTCA (p.Arg2825_Ser2826delinsSerHis)
|
|
|
NM_152564.5(VPS13B):c.8490C>A (p.Asp2830Glu)
|
|
|
NM_152564.5(VPS13B):c.8490C>T (p.Asp2830=)
|
rs1814194580
|
|
NM_152564.5(VPS13B):c.8493C>G (p.Pro2831=)
|
|
|
NM_152564.5(VPS13B):c.8493C>T (p.Pro2831=)
|
|
|
NM_152564.5(VPS13B):c.8494_8495del (p.Ile2832fs)
|
rs2130813916
|
|
NM_152564.5(VPS13B):c.8496del (p.Ile2833fs)
|
rs2130813918
|
|
NM_152564.5(VPS13B):c.8499_8501del (p.Ile2834del)
|
rs1554566693
|
|
NM_152564.5(VPS13B):c.849T>C (p.Ala283=)
|
rs1563549019
|
|
NM_152564.5(VPS13B):c.8504A>G (p.His2835Arg)
|
|
|
NM_152564.5(VPS13B):c.8505T>G (p.His2835Gln)
|
rs1814195672
|
|
NM_152564.5(VPS13B):c.8505_8538dup (p.Gln2847delinsPheGlyGluLysGluSerGlyIleGluTer)
|
rs2130813950
|
|
NM_152564.5(VPS13B):c.8521C>T (p.Leu2841=)
|
rs2130813974
|
|
NM_152564.5(VPS13B):c.8522dup (p.Leu2843fs)
|
|
|
NM_152564.5(VPS13B):c.8527T>C (p.Leu2843=)
|
rs778838868
|
|
NM_152564.5(VPS13B):c.8528T>C (p.Leu2843Ser)
|
|
|
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs)
|
rs386834114
|
|
NM_152564.5(VPS13B):c.8550A>G (p.Pro2850=)
|
rs1052125514
|
|
NM_152564.5(VPS13B):c.8553A>G (p.Gly2851=)
|
|
|
NM_152564.5(VPS13B):c.8556A>G (p.Lys2852=)
|
|
|
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs)
|
rs765302278
|
|
NM_152564.5(VPS13B):c.855C>A (p.Tyr285Ter)
|
rs1256482530
|
|
NM_152564.5(VPS13B):c.855C>T (p.Tyr285=)
|
rs1256482530
|
|
NM_152564.5(VPS13B):c.8560C>T (p.Gln2854Ter)
|
rs2130814064
|
|
NM_152564.5(VPS13B):c.8574G>A (p.Leu2858=)
|
|
|
NM_152564.5(VPS13B):c.8581A>G (p.Ile2861Val)
|
|
|
NM_152564.5(VPS13B):c.8592C>A (p.Asp2864Glu)
|
|
|
NM_152564.5(VPS13B):c.8592C>T (p.Asp2864=)
|
|
|
NM_152564.5(VPS13B):c.8593C>G (p.Leu2865Val)
|
rs1814199572
|
|
NM_152564.5(VPS13B):c.8593C>T (p.Leu2865Phe)
|
|
|
NM_152564.5(VPS13B):c.8595T>G (p.Leu2865=)
|
|
|
NM_152564.5(VPS13B):c.8604C>T (p.His2868=)
|
rs2130814192
|
|
NM_152564.5(VPS13B):c.8605C>G (p.Leu2869Val)
|
rs1448710192
|
|
NM_152564.5(VPS13B):c.8610A>G (p.Thr2870=)
|
rs2130814206
|
|
NM_152564.5(VPS13B):c.8614C>A (p.Gln2872Lys)
|
rs2130814214
|
|
NM_152564.5(VPS13B):c.861A>C (p.Gly287=)
|
rs2132497926
|
|
NM_152564.5(VPS13B):c.861A>G (p.Gly287=)
|
|
|
NM_152564.5(VPS13B):c.8621+14C>A
|
|
|
NM_152564.5(VPS13B):c.8621+15C>T
|
|
|
NM_152564.5(VPS13B):c.8621+20A>G
|
|
|
NM_152564.5(VPS13B):c.8621+2T>G
|
rs1057517236
|
|
NM_152564.5(VPS13B):c.8621+4C>G
|
rs1563489649
|
|
NM_152564.5(VPS13B):c.8621+4C>T
|
rs1563489649
|
|
NM_152564.5(VPS13B):c.8621+6A>G
|
|
|
NM_152564.5(VPS13B):c.8622-10A>C
|
|
|
NM_152564.5(VPS13B):c.8622-11C>A
|
|
|
NM_152564.5(VPS13B):c.8622-2A>G
|
rs386834115
|
|
NM_152564.5(VPS13B):c.8622-6T>G
|
|
|
NM_152564.5(VPS13B):c.8622-9A>G
|
rs386834116
|
|
NM_152564.5(VPS13B):c.8625A>G (p.Glu2875=)
|
rs776161364
|
|
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter)
|
rs747644844
|
|
NM_152564.5(VPS13B):c.8628A>G (p.Glu2876=)
|
rs1814236267
|
|
NM_152564.5(VPS13B):c.862G>A (p.Glu288Lys)
|
|
|
NM_152564.5(VPS13B):c.8631T>C (p.Tyr2877=)
|
rs2130815899
|
|
NM_152564.5(VPS13B):c.8633A>G (p.Asp2878Gly)
|
rs1563490033
|
|
NM_152564.5(VPS13B):c.8633A>T (p.Asp2878Val)
|
rs1563490033
|
|
NM_152564.5(VPS13B):c.8637T>G (p.Pro2879=)
|
|
|
NM_152564.5(VPS13B):c.8643T>C (p.Asp2881=)
|
|
|
NM_152564.5(VPS13B):c.8646T>C (p.Cys2882=)
|
|
|
NM_152564.5(VPS13B):c.8654C>T (p.Pro2885Leu)
|
|
|
NM_152564.5(VPS13B):c.8655C>T (p.Pro2885=)
|
|
|
NM_152564.5(VPS13B):c.865del (p.Glu288_Ile289insTer)
|
rs2132497933
|
|
NM_152564.5(VPS13B):c.8664A>G (p.Thr2888=)
|
rs760964711
|
|
NM_152564.5(VPS13B):c.8667C>T (p.Ser2889=)
|
rs1814238060
|
|
NM_152564.5(VPS13B):c.8671A>G (p.Ile2891Val)
|
rs1814238254
|
|
NM_152564.5(VPS13B):c.8692G>A (p.Val2898Ile)
|
rs200611924
|
|
NM_152564.5(VPS13B):c.8694A>T (p.Val2898=)
|
|
|
NM_152564.5(VPS13B):c.8695C>T (p.His2899Tyr)
|
rs895271990
|
|
NM_152564.5(VPS13B):c.8697C>A (p.His2899Gln)
|
rs375911218
|
|
NM_152564.5(VPS13B):c.8703A>G (p.Gly2901=)
|
rs1588744960
|
|
NM_152564.5(VPS13B):c.8706C>T (p.Gly2902=)
|
rs2130816101
|
|
NM_152564.5(VPS13B):c.8709A>G (p.Thr2903=)
|
rs765352584
|
|
NM_152564.5(VPS13B):c.8709A>T (p.Thr2903=)
|
|
|
NM_152564.5(VPS13B):c.870C>A (p.Gly290=)
|
rs757250316
|
|
NM_152564.5(VPS13B):c.8710del (p.Val2904fs)
|
|
|
NM_152564.5(VPS13B):c.8718G>A (p.Gln2906=)
|
|
|
NM_152564.5(VPS13B):c.8719A>C (p.Ile2907Leu)
|
|
|
NM_152564.5(VPS13B):c.8721C>A (p.Ile2907=)
|
|
|
NM_152564.5(VPS13B):c.8721C>T (p.Ile2907=)
|
|
|
NM_152564.5(VPS13B):c.8730A>G (p.Glu2910=)
|
rs1814241089
|
|
NM_152564.5(VPS13B):c.8733C>A (p.Phe2911Leu)
|
rs1027859307
|
|
NM_152564.5(VPS13B):c.8733C>T (p.Phe2911=)
|
|
|
NM_152564.5(VPS13B):c.8739G>T (p.Gly2913=)
|
rs797046097
|
|
NM_152564.5(VPS13B):c.8741_8756del (p.Pro2914fs)
|
|
|
NM_152564.5(VPS13B):c.8745A>G (p.Glu2915=)
|
|
|
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val)
|
rs779095081
|
|
NM_152564.5(VPS13B):c.8750C>A (p.Ser2917Ter)
|
|
|
NM_152564.5(VPS13B):c.8750C>G (p.Ser2917Trp)
|
rs139732310
|
|
NM_152564.5(VPS13B):c.8751G>T (p.Ser2917=)
|
rs775883776
|
|
NM_152564.5(VPS13B):c.8755C>A (p.Gln2919Lys)
|
rs1342501390
|
|
NM_152564.5(VPS13B):c.8757A>G (p.Gln2919=)
|
|
|
NM_152564.5(VPS13B):c.8761A>G (p.Ile2921Val)
|
|
|
NM_152564.5(VPS13B):c.8766G>A (p.Trp2922Ter)
|
rs2130816341
|
|
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del)
|
rs549810522
|
|
NM_152564.5(VPS13B):c.8779A>G (p.Lys2927Glu)
|
|
|
NM_152564.5(VPS13B):c.8784T>C (p.Asp2928=)
|
|
|
NM_152564.5(VPS13B):c.8786C>A (p.Ser2929Tyr)
|
|
|
NM_152564.5(VPS13B):c.8787T>C (p.Ser2929=)
|
rs1588745102
|
|
NM_152564.5(VPS13B):c.8788G>A (p.Asp2930Asn)
|
rs2130816418
|
|
NM_152564.5(VPS13B):c.8790C>T (p.Asp2930=)
|
|
|
NM_152564.5(VPS13B):c.8792+11T>C
|
|
|
NM_152564.5(VPS13B):c.8792+14G>C
|
|
|
NM_152564.5(VPS13B):c.8792+15T>C
|
|
|
NM_152564.5(VPS13B):c.8792+17A>G
|
|
|
NM_152564.5(VPS13B):c.8792+19C>G
|
rs2130816510
|
|
NM_152564.5(VPS13B):c.8792+24dup
|
|
|
NM_152564.5(VPS13B):c.8792+7T>C
|
|
|
NM_152564.5(VPS13B):c.8793-16G>T
|
|
|
NM_152564.5(VPS13B):c.8793-19G>A
|
|
|
NM_152564.5(VPS13B):c.8793-2A>G
|
|
|
NM_152564.5(VPS13B):c.8793-6del
|
rs756641209
|
|
NM_152564.5(VPS13B):c.8793-7G>A
|
rs886062547
|
|
NM_152564.5(VPS13B):c.8793-7_8793-6delinsT
|
rs756641209
|
|
NM_152564.5(VPS13B):c.8793-8T>C
|
rs1563490351
|
|
NM_152564.5(VPS13B):c.8796T>A (p.Asn2932Lys)
|
|
|
NM_152564.5(VPS13B):c.8796T>C (p.Asn2932=)
|
rs1814270562
|
|
NM_152564.5(VPS13B):c.8797G>A (p.Glu2933Lys)
|
rs1814270658
|
|
NM_152564.5(VPS13B):c.87A>G (p.Ser29=)
|
rs1190769527
|
|
NM_152564.5(VPS13B):c.8804T>C (p.Leu2935Pro)
|
|
|
NM_152564.5(VPS13B):c.8827C>A (p.Arg2943=)
|
rs755996065
|
|
NM_152564.5(VPS13B):c.8828G>T (p.Arg2943Leu)
|
|
|
NM_152564.5(VPS13B):c.882A>G (p.Glu294=)
|
|
|
NM_152564.5(VPS13B):c.8836C>T (p.Leu2946=)
|
rs753585905
|
|
NM_152564.5(VPS13B):c.884G>A (p.Gly295Asp)
|
rs1847627643
|
|
NM_152564.5(VPS13B):c.8850G>A (p.Lys2950=)
|
rs2130817562
|
|
NM_152564.5(VPS13B):c.8851C>A (p.Pro2951Thr)
|
|
|
NM_152564.5(VPS13B):c.8853A>G (p.Pro2951=)
|
|
|
NM_152564.5(VPS13B):c.8853A>T (p.Pro2951=)
|
|
|
NM_152564.5(VPS13B):c.8855A>G (p.Tyr2952Cys)
|
|
|
NM_152564.5(VPS13B):c.8855_8856del (p.Tyr2952fs)
|
rs2130817575
|
|
NM_152564.5(VPS13B):c.8859_8862dup (p.Thr2955Ter)
|
rs2130817608
|
|
NM_152564.5(VPS13B):c.8866T>G (p.Leu2956Val)
|
rs1814273513
|
|
NM_152564.5(VPS13B):c.8868G>A (p.Leu2956=)
|
|
|
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter)
|
rs727504219
|
|
NM_152564.5(VPS13B):c.8870T>C (p.Leu2957Ser)
|
|
|
NM_152564.5(VPS13B):c.8871G>A (p.Leu2957=)
|
|
|
NM_152564.5(VPS13B):c.887A>G (p.Glu296Gly)
|
|
|
NM_152564.5(VPS13B):c.8883G>A (p.Leu2961=)
|
|
|
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs)
|
rs1057516845
|
|
NM_152564.5(VPS13B):c.8886C>T (p.Pro2962=)
|
|
|
NM_152564.5(VPS13B):c.8893C>T (p.Leu2965=)
|
|
|
NM_152564.5(VPS13B):c.8895G>C (p.Leu2965=)
|
rs1423890336
|
|
NM_152564.5(VPS13B):c.8898T>C (p.Leu2966=)
|
rs1814274543
|
|
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer)
|
rs1554622718
|
|
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter)
|
rs797046098
|
|
NM_152564.5(VPS13B):c.8920C>A (p.Leu2974Ile)
|
|
|
NM_152564.5(VPS13B):c.8926C>T (p.Leu2976=)
|
rs1814275656
|
|
NM_152564.5(VPS13B):c.8928A>G (p.Leu2976=)
|
rs1814275776
|
|
NM_152564.5(VPS13B):c.8937A>G (p.Gly2979=)
|
|
|
NM_152564.5(VPS13B):c.8940G>C (p.Glu2980Asp)
|
rs1814276106
|
|
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter)
|
rs1057516558
|
|
NM_152564.5(VPS13B):c.8955G>A (p.Gln2985=)
|
|
|
NM_152564.5(VPS13B):c.895G>A (p.Asp299Asn)
|
|
|
NM_152564.5(VPS13B):c.8961T>G (p.Pro2987=)
|
rs2130817807
|
|
NM_152564.5(VPS13B):c.8963C>T (p.Ala2988Val)
|
rs1814277012
|
|
NM_152564.5(VPS13B):c.8964T>C (p.Ala2988=)
|
|
|
NM_152564.5(VPS13B):c.8965G>A (p.Gly2989Ser)
|
rs1814277192
|
|
NM_152564.5(VPS13B):c.8965G>T (p.Gly2989Cys)
|
rs1814277192
|
|
NM_152564.5(VPS13B):c.896del (p.Asp299fs)
|
rs2132498049
|
|
NM_152564.5(VPS13B):c.8980C>T (p.Pro2994Ser)
|
rs1814277690
|
|
NM_152564.5(VPS13B):c.8981C>T (p.Pro2994Leu)
|
rs913607878
|
|
NM_152564.5(VPS13B):c.8983C>A (p.Pro2995Thr)
|
rs1180231209
|
|
NM_152564.5(VPS13B):c.8983C>T (p.Pro2995Ser)
|
rs1180231209
|
|
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs)
|
rs1057516276
|
|
NM_152564.5(VPS13B):c.8994+10del
|
|
|
NM_152564.5(VPS13B):c.8994+14T>C
|
|
|
NM_152564.5(VPS13B):c.8994+16del
|
|
|
NM_152564.5(VPS13B):c.8994+16dup
|
|
|
NM_152564.5(VPS13B):c.8994+18A>G
|
|
|
NM_152564.5(VPS13B):c.8994+20T>G
|
|
|
NM_152564.5(VPS13B):c.8994+6A>G
|
rs2130817893
|
|
NM_152564.5(VPS13B):c.8995-10A>C
|
|
|
NM_152564.5(VPS13B):c.8995-13A>C
|
|
|
NM_152564.5(VPS13B):c.8995-13A>T
|
|
|
NM_152564.5(VPS13B):c.8995-14C>G
|
|
|
NM_152564.5(VPS13B):c.8995-14C>T
|
|
|
NM_152564.5(VPS13B):c.8995-16G>A
|
|
|
NM_152564.5(VPS13B):c.8995-16G>T
|
|
|
NM_152564.5(VPS13B):c.8995-1G>A
|
|
|
NM_152564.5(VPS13B):c.8995-20T>A
|
|
|
NM_152564.5(VPS13B):c.8995-20T>C
|
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152564.5(VPS13B):c.8995-4C>T
|
rs2130821868
|
|
NM_152564.5(VPS13B):c.8997A>G (p.Glu2999=)
|
rs2130821884
|
|
NM_152564.5(VPS13B):c.8999C>G (p.Ala3000Gly)
|
|
|
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs)
|
rs1057516538
|
|
NM_152564.5(VPS13B):c.900T>A (p.Leu300=)
|
rs2132498081
|
|
NM_152564.5(VPS13B):c.900T>G (p.Leu300=)
|
rs2132498081
|
|
NM_152564.5(VPS13B):c.9019T>G (p.Trp3007Gly)
|
|
|
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)
|
rs759536357
|
|
NM_152564.5(VPS13B):c.9023C>T (p.Ala3008Val)
|
rs6992059
|
|
NM_152564.5(VPS13B):c.9029C>A (p.Thr3010Lys)
|
|
|
NM_152564.5(VPS13B):c.902C>G (p.Thr301Ser)
|
rs1847628494
|
|
NM_152564.5(VPS13B):c.9033C>T (p.Asn3011=)
|
rs1814357255
|
|
NM_152564.5(VPS13B):c.9036T>C (p.Thr3012=)
|
|
|
NM_152564.5(VPS13B):c.9048A>C (p.Ser3016=)
|
|
|
NM_152564.5(VPS13B):c.9048A>G (p.Ser3016=)
|
rs764745288
|
|
NM_152564.5(VPS13B):c.9057T>C (p.Ile3019=)
|
rs1338076915
|
|
NM_152564.5(VPS13B):c.9062T>C (p.Leu3021Pro)
|
|
|
NM_152564.5(VPS13B):c.9063G>C (p.Leu3021=)
|
|
|
NM_152564.5(VPS13B):c.9068A>G (p.His3023Arg)
|
rs755304703
|
|
NM_152564.5(VPS13B):c.9075G>A (p.Leu3025=)
|
|
|
NM_152564.5(VPS13B):c.907C>G (p.His303Asp)
|
rs1847628600
|
|
NM_152564.5(VPS13B):c.9089G>A (p.Trp3030Ter)
|
|
|
NM_152564.5(VPS13B):c.9090G>A (p.Trp3030Ter)
|
|
|
NM_152564.5(VPS13B):c.9105T>C (p.Asn3035=)
|
|
|
NM_152564.5(VPS13B):c.9111A>G (p.Glu3037=)
|
rs2130822154
|
|
NM_152564.5(VPS13B):c.9117G>A (p.Val3039=)
|
|
|
NM_152564.5(VPS13B):c.9128A>G (p.Glu3043Gly)
|
rs778973890
|
|
NM_152564.5(VPS13B):c.9140T>C (p.Val3047Ala)
|
|
|
NM_152564.5(VPS13B):c.9143A>G (p.Asp3048Gly)
|
rs2130822238
|
|
NM_152564.5(VPS13B):c.9147T>C (p.Thr3049=)
|
rs2130822258
|
|
NM_152564.5(VPS13B):c.9148G>A (p.Glu3050Lys)
|
|
|
NM_152564.5(VPS13B):c.9153A>T (p.Ile3051=)
|
|
|
NM_152564.5(VPS13B):c.9158T>C (p.Leu3053Pro)
|
rs953473434
|
|
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs)
|
rs386834117
|
|
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs)
|
rs1057516789
|
|
NM_152564.5(VPS13B):c.9183+15T>C
|
|
|
NM_152564.5(VPS13B):c.9183+1G>A
|
rs2130822351
|
|
NM_152564.5(VPS13B):c.9183+20G>T
|
|
|
NM_152564.5(VPS13B):c.9183+2T>G
|
|
|
NM_152564.5(VPS13B):c.9183+8C>G
|
rs2130822390
|
|
NM_152564.5(VPS13B):c.9184-10T>C
|
rs2130828647
|
|
NM_152564.5(VPS13B):c.9184-15T>C
|
|
|
NM_152564.5(VPS13B):c.9184-1G>A
|
|
|
NM_152564.5(VPS13B):c.9184-2A>G
|
|
|
NM_152564.5(VPS13B):c.9184-2_9184del
|
rs1057516807
|
|
NM_152564.5(VPS13B):c.9184-9A>G
|
rs2130828655
|
|
NM_152564.5(VPS13B):c.9184-9A>T
|
|
|
NM_152564.5(VPS13B):c.9184-9_9184-5del
|
|
|
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
NM_152564.5(VPS13B):c.9186A>T (p.Leu3062Phe)
|
rs984224710
|
|
NM_152564.5(VPS13B):c.918T>C (p.Asp306=)
|
rs2132498147
|
|
NM_152564.5(VPS13B):c.9193T>C (p.Phe3065Leu)
|
|
|
NM_152564.5(VPS13B):c.9204C>T (p.Ser3068=)
|
|
|
NM_152564.5(VPS13B):c.9206C>T (p.Ser3069Phe)
|
rs1814517169
|
|
NM_152564.5(VPS13B):c.9208A>G (p.Met3070Val)
|
rs1386338109
|
|
NM_152564.5(VPS13B):c.9220G>A (p.Gly3074Ser)
|
rs762740344
|
|
NM_152564.5(VPS13B):c.9222T>A (p.Gly3074=)
|
|
|
NM_152564.5(VPS13B):c.9231T>C (p.Ile3077=)
|
rs958907037
|
|
NM_152564.5(VPS13B):c.9234T>C (p.Ile3078=)
|
rs2130828791
|
|
NM_152564.5(VPS13B):c.9240T>C (p.Ile3080=)
|
rs1814518647
|
|
NM_152564.5(VPS13B):c.9242A>G (p.Glu3081Gly)
|
rs1814518745
|
|
NM_152564.5(VPS13B):c.9245A>G (p.Asp3082Gly)
|
rs1563492523
|
|
NM_152564.5(VPS13B):c.9255A>G (p.Thr3085=)
|
rs2130828848
|
|
NM_152564.5(VPS13B):c.9259A>C (p.Ile3087Leu)
|
rs768346495
|
|
NM_152564.5(VPS13B):c.9261C>T (p.Ile3087=)
|
|
|
NM_152564.5(VPS13B):c.9261_9267del (p.Asn3088fs)
|
|
|
NM_152564.5(VPS13B):c.9263A>G (p.Asn3088Ser)
|
rs1814519813
|
|
NM_152564.5(VPS13B):c.9267T>C (p.Asn3089=)
|
rs886062548
|
|
NM_152564.5(VPS13B):c.9268A>G (p.Thr3090Ala)
|
rs2130828886
|
|
NM_152564.5(VPS13B):c.926G>A (p.Gly309Glu)
|
|
|
NM_152564.5(VPS13B):c.9273A>G (p.Pro3091=)
|
rs1345326650
|
|
NM_152564.5(VPS13B):c.9276T>C (p.Tyr3092=)
|
rs2130828917
|
|
NM_152564.5(VPS13B):c.9280del (p.Ile3094fs)
|
|
|
NM_152564.5(VPS13B):c.9283T>G (p.Phe3095Val)
|
rs1814520891
|
|
NM_152564.5(VPS13B):c.9293C>A (p.Pro3098Gln)
|
rs917260056
|
|
NM_152564.5(VPS13B):c.9293_9295dup (p.Pro3098dup)
|
rs1182385860
|
|
NM_152564.5(VPS13B):c.9294A>C (p.Pro3098=)
|
|
|
NM_152564.5(VPS13B):c.9300A>G (p.Leu3100=)
|
rs143974238
|
|
NM_152564.5(VPS13B):c.9300A>T (p.Leu3100=)
|
rs143974238
|
|
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs)
|
rs773945333
|
|
NM_152564.5(VPS13B):c.9306C>T (p.Val3102=)
|
|
|
NM_152564.5(VPS13B):c.9309C>T (p.Cys3103=)
|
|
|
NM_152564.5(VPS13B):c.9312T>C (p.Asn3104=)
|
|
|
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr)
|
rs748030120
|
|
NM_152564.5(VPS13B):c.9314C>T (p.Pro3105Leu)
|
|
|
NM_152564.5(VPS13B):c.9318T>C (p.His3106=)
|
rs1814523122
|
|
NM_152564.5(VPS13B):c.9322G>A (p.Gly3108Arg)
|
rs1814523416
|
|
NM_152564.5(VPS13B):c.9327G>A (p.Lys3109=)
|
|
|
NM_152564.5(VPS13B):c.9328G>T (p.Glu3110Ter)
|
|
|
NM_152564.5(VPS13B):c.9330+12A>G
|
|
|
NM_152564.5(VPS13B):c.9330+13T>C
|
|
|
NM_152564.5(VPS13B):c.9330+16C>A
|
|
|
NM_152564.5(VPS13B):c.9330+16C>G
|
|
|
NM_152564.5(VPS13B):c.9330+16C>T
|
|
|
NM_152564.5(VPS13B):c.9330+17G>T
|
|
|
NM_152564.5(VPS13B):c.9330+1G>A
|
|
|
NM_152564.5(VPS13B):c.9330+1G>C
|
rs756013171
|
|
NM_152564.5(VPS13B):c.9330+8A>T
|
|
|
NM_152564.5(VPS13B):c.9331-10T>C
|
|
|
NM_152564.5(VPS13B):c.9331-12_9331-3del
|
rs370235149
|
|
NM_152564.5(VPS13B):c.9331-14_9331-3del
|
|
|
NM_152564.5(VPS13B):c.9331-15_9331-3del
|
|
|
NM_152564.5(VPS13B):c.9331-1G>A
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-1G>C
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT
|
|
|
NM_152564.5(VPS13B):c.9331-21_9331-3del
|
rs370235149
|
|
NM_152564.5(VPS13B):c.9331-2A>G
|
rs74485751
|
|
NM_152564.5(VPS13B):c.9331-2_9331-1del
|
rs764288792
|
|
NM_152564.5(VPS13B):c.9331-3_9331-2insTTTTTTTTTTTGTTTTTT
|
|
|
NM_152564.5(VPS13B):c.9331-4T>G
|
rs2130857623
|
|
NM_152564.5(VPS13B):c.9331-5T>C
|
|
|
NM_152564.5(VPS13B):c.9331-98dup
|
rs68156520
|
|
NM_152564.5(VPS13B):c.9331-99_9331-98dup
|
rs68156520
|
|
NM_152564.5(VPS13B):c.9331-9T>G
|
|
|
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs)
|
rs757435621
|
|
NM_152564.5(VPS13B):c.9332A>G (p.Tyr3111Cys)
|
|
|
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe)
|
rs199704158
|
|
NM_152564.5(VPS13B):c.9333T>C (p.Tyr3111=)
|
|
|
NM_152564.5(VPS13B):c.9333T>G (p.Tyr3111Ter)
|
rs1563497733
|
|
NM_152564.5(VPS13B):c.9337C>T (p.Arg3113Cys)
|
|
|
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs)
|
rs754443525
|
|
NM_152564.5(VPS13B):c.9340G>T (p.Val3114Phe)
|
rs752763935
|
|
NM_152564.5(VPS13B):c.9345A>G (p.Pro3115=)
|
rs2130857838
|
|
NM_152564.5(VPS13B):c.9348C>T (p.Asp3116=)
|
rs2130857844
|
|
NM_152564.5(VPS13B):c.9350G>A (p.Ser3117Asn)
|
|
|
NM_152564.5(VPS13B):c.9354T>A (p.Ala3118=)
|
|
|
NM_152564.5(VPS13B):c.9355A>G (p.Thr3119Ala)
|
|
|
NM_152564.5(VPS13B):c.9359T>C (p.Phe3120Ser)
|
rs1490268361
|
|
NM_152564.5(VPS13B):c.937+10A>T
|
|
|
NM_152564.5(VPS13B):c.937+15T>A
|
|
|
NM_152564.5(VPS13B):c.937+16A>G
|
|
|
NM_152564.5(VPS13B):c.937+1G>A
|
|
|
NM_152564.5(VPS13B):c.937+4A>G
|
|
|
NM_152564.5(VPS13B):c.937+6G>A
|
rs2132498266
|
|
NM_152564.5(VPS13B):c.937+7T>C
|
|
|
NM_152564.5(VPS13B):c.9370C>T (p.Pro3124Ser)
|
|
|
NM_152564.5(VPS13B):c.9371C>G (p.Pro3124Arg)
|
|
|
NM_152564.5(VPS13B):c.9377G>A (p.Gly3126Glu)
|
rs2130857969
|
|
NM_152564.5(VPS13B):c.938-13T>C
|
rs751563657
|
|
NM_152564.5(VPS13B):c.938-17T>C
|
|
|
NM_152564.5(VPS13B):c.938-17T>G
|
|
|
NM_152564.5(VPS13B):c.938-17_938-16del
|
|
|
NM_152564.5(VPS13B):c.938-19A>G
|
|
|
NM_152564.5(VPS13B):c.938-1G>C
|
rs2132515671
|
|
NM_152564.5(VPS13B):c.938-8A>G
|
|
|
NM_152564.5(VPS13B):c.938-9A>G
|
|
|
NM_152564.5(VPS13B):c.9381G>A (p.Glu3127=)
|
|
|
NM_152564.5(VPS13B):c.9384G>A (p.Gln3128=)
|
rs267601673
|
|
NM_152564.5(VPS13B):c.9386C>G (p.Pro3129Arg)
|
|
|
NM_152564.5(VPS13B):c.9388G>A (p.Ala3130Thr)
|
rs2130858010
|
|
NM_152564.5(VPS13B):c.9388G>C (p.Ala3130Pro)
|
rs2130858010
|
|
NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter)
|
|
|
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs)
|
rs2130858031
|
|
NM_152564.5(VPS13B):c.939T>C (p.Gly313=)
|
rs2132515681
|
|
NM_152564.5(VPS13B):c.9405C>A (p.Ser3135=)
|
rs2130858063
|
|
NM_152564.5(VPS13B):c.9406C>T (p.Leu3136Phe)
|
rs1815131065
|
|
NM_152564.5(VPS13B):c.9408T>C (p.Leu3136=)
|
|
|
NM_152564.5(VPS13B):c.9409C>G (p.Pro3137Ala)
|
|
|
NM_152564.5(VPS13B):c.9409C>T (p.Pro3137Ser)
|
|
|
NM_152564.5(VPS13B):c.9411T>G (p.Pro3137=)
|
rs2130858097
|
|
NM_152564.5(VPS13B):c.9416G>A (p.Trp3139Ter)
|
rs1563497844
|
|
NM_152564.5(VPS13B):c.9429T>G (p.Pro3143=)
|
rs2130858135
|
|
NM_152564.5(VPS13B):c.9440A>C (p.Gln3147Pro)
|
|
|
NM_152564.5(VPS13B):c.9444A>G (p.Ser3148=)
|
rs1419669701
|
|
NM_152564.5(VPS13B):c.9448del (p.Leu3150fs)
|
|
|
NM_152564.5(VPS13B):c.9458C>A (p.Ser3153Tyr)
|
rs1815134599
|
|
NM_152564.5(VPS13B):c.9463C>T (p.Leu3155Phe)
|
rs1588761583
|
|
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter)
|
rs753770252
|
|
NM_152564.5(VPS13B):c.9492T>G (p.Ser3164=)
|
rs36074608
|
|
NM_152564.5(VPS13B):c.9493C>T (p.Pro3165Ser)
|
|
|
NM_152564.5(VPS13B):c.9498C>G (p.Ala3166=)
|
|
|
NM_152564.5(VPS13B):c.9498C>T (p.Ala3166=)
|
|
|
NM_152564.5(VPS13B):c.9500C>T (p.Pro3167Leu)
|
rs1815137390
|
|
NM_152564.5(VPS13B):c.9501A>G (p.Pro3167=)
|
rs1448281466
|
|
NM_152564.5(VPS13B):c.9503G>A (p.Gly3168Asp)
|
|
|
NM_152564.5(VPS13B):c.9504T>C (p.Gly3168=)
|
|
|
NM_152564.5(VPS13B):c.9513C>G (p.Ser3171Arg)
|
rs2130858288
|
|
NM_152564.5(VPS13B):c.9513C>T (p.Ser3171=)
|
|
|
NM_152564.5(VPS13B):c.9517C>T (p.Gln3173Ter)
|
rs1554573990
|
|
NM_152564.5(VPS13B):c.9525G>A (p.Trp3175Ter)
|
rs2130858310
|
|
NM_152564.5(VPS13B):c.9528C>G (p.Ser3176Arg)
|
rs771505935
|
|
NM_152564.5(VPS13B):c.9529C>T (p.Leu3177=)
|
|
|
NM_152564.5(VPS13B):c.9535G>T (p.Ala3179Ser)
|
rs2130858328
|
|
NM_152564.5(VPS13B):c.9537_9540dup (p.Val3181fs)
|
rs2130858335
|
|
NM_152564.5(VPS13B):c.9539T>C (p.Ile3180Thr)
|
|
|
NM_152564.5(VPS13B):c.9558C>T (p.Pro3186=)
|
|
|
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs)
|
rs1554574028
|
|
NM_152564.5(VPS13B):c.9563dup (p.Ser3189fs)
|
rs2130858386
|
|
NM_152564.5(VPS13B):c.9565_9566del (p.Ser3189fs)
|
|
|
NM_152564.5(VPS13B):c.9567T>C (p.Ser3189=)
|
rs2130858392
|
|
NM_152564.5(VPS13B):c.9572C>G (p.Ala3191Gly)
|
rs1815140494
|
|
NM_152564.5(VPS13B):c.9579C>T (p.Pro3193=)
|
rs2130858423
|
|
NM_152564.5(VPS13B):c.9584G>T (p.Gly3195Val)
|
rs1815141428
|
|
NM_152564.5(VPS13B):c.9585G>T (p.Gly3195=)
|
|
|
NM_152564.5(VPS13B):c.9594G>A (p.Arg3198=)
|
rs2130858464
|
|
NM_152564.5(VPS13B):c.95del (p.Gly32fs)
|
|
|
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg)
|
rs781004616
|
|
NM_152564.5(VPS13B):c.9608G>A (p.Cys3203Tyr)
|
rs747611342
|
|
NM_152564.5(VPS13B):c.9609T>C (p.Cys3203=)
|
rs533207610
|
|
NM_152564.5(VPS13B):c.9612C>G (p.Thr3204=)
|
rs2130858506
|
|
NM_152564.5(VPS13B):c.9614+1G>T
|
rs1057517168
|
|
NM_152564.5(VPS13B):c.9614+8_9614+10del
|
|
|
NM_152564.5(VPS13B):c.9614+8_9614+9del
|
|
|
NM_152564.5(VPS13B):c.9615-12A>G
|
|
|
NM_152564.5(VPS13B):c.9615-14T>G
|
|
|
NM_152564.5(VPS13B):c.9615-15T>C
|
|
|
NM_152564.5(VPS13B):c.9615-16C>T
|
|
|
NM_152564.5(VPS13B):c.9615-17A>T
|
|
|
NM_152564.5(VPS13B):c.9615-1G>A
|
rs2130865334
|
|
NM_152564.5(VPS13B):c.9615-2A>C
|
rs386834120
|
|
NM_152564.5(VPS13B):c.9615-2A>G
|
rs386834120
|
|
NM_152564.5(VPS13B):c.9615G>T (p.Arg3205Ser)
|
|
|
NM_152564.5(VPS13B):c.9619A>G (p.Ile3207Val)
|
|
|
NM_152564.5(VPS13B):c.9623T>C (p.Val3208Ala)
|
rs1563499365
|
|
NM_152564.5(VPS13B):c.9627G>A (p.Leu3209=)
|
|
|
NM_152564.5(VPS13B):c.9630A>C (p.Thr3210=)
|
|
|
NM_152564.5(VPS13B):c.9630A>G (p.Thr3210=)
|
|
|
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs)
|
rs386834121
|
|
NM_152564.5(VPS13B):c.9633T>C (p.Tyr3211=)
|
rs980028099
|
|
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter)
|
rs1563499381
|
|
NM_152564.5(VPS13B):c.9639del (p.Glu3213fs)
|
|
|
NM_152564.5(VPS13B):c.9655T>C (p.Tyr3219His)
|
rs2130865452
|
|
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs)
|
rs386834122
|
|
NM_152564.5(VPS13B):c.9661A>G (p.Thr3221Ala)
|
|
|
NM_152564.5(VPS13B):c.9662C>A (p.Thr3221Asn)
|
rs143852398
|
|
NM_152564.5(VPS13B):c.9675C>T (p.Asp3225=)
|
rs2130865492
|
|
NM_152564.5(VPS13B):c.9682C>A (p.Pro3228Thr)
|
|
|
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter)
|
rs941969577
|
|
NM_152564.5(VPS13B):c.968A>G (p.Gln323Arg)
|
rs1847916430
|
|
NM_152564.5(VPS13B):c.9693T>C (p.Ile3231=)
|
rs2130865538
|
|
NM_152564.5(VPS13B):c.9696C>A (p.Ile3232=)
|
rs1348521177
|
|
NM_152564.5(VPS13B):c.9696C>T (p.Ile3232=)
|
rs1348521177
|
|
NM_152564.5(VPS13B):c.9697C>G (p.His3233Asp)
|
rs1815326772
|
|
NM_152564.5(VPS13B):c.9697_9700delinsAAG (p.His3233fs)
|
|
|
NM_152564.5(VPS13B):c.9699C>A (p.His3233Gln)
|
|
|
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs)
|
rs2130865566
|
|
NM_152564.5(VPS13B):c.9703A>C (p.Arg3235=)
|
|
|
NM_152564.5(VPS13B):c.9705A>G (p.Arg3235=)
|
|
|
NM_152564.5(VPS13B):c.9706T>C (p.Cys3236Arg)
|
rs1815327230
|
|
NM_152564.5(VPS13B):c.9708T>C (p.Cys3236=)
|
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
NM_152564.5(VPS13B):c.971A>G (p.Tyr324Cys)
|
|
|
NM_152564.5(VPS13B):c.9723T>C (p.Leu3241=)
|
|
|
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter)
|
|
|
NM_152564.5(VPS13B):c.9735C>T (p.Asn3245=)
|
rs766177887
|
|
NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter)
|
|
|
NM_152564.5(VPS13B):c.973C>G (p.Pro325Ala)
|
rs1161857930
|
|
NM_152564.5(VPS13B):c.9742+13C>G
|
rs112919682
|
|
NM_152564.5(VPS13B):c.9742+13C>T
|
rs112919682
|
|
NM_152564.5(VPS13B):c.9742+15A>G
|
|
|
NM_152564.5(VPS13B):c.9742+16T>C
|
|
|
NM_152564.5(VPS13B):c.9742+17C>T
|
|
|
NM_152564.5(VPS13B):c.9742+1G>A
|
|
|
NM_152564.5(VPS13B):c.9742+1G>T
|
rs759374475
|
|
NM_152564.5(VPS13B):c.9742+2T>C
|
rs1434569440
|
|
NM_152564.5(VPS13B):c.9742+3A>G
|
rs375183964
|
|
NM_152564.5(VPS13B):c.9742+5G>A
|
|
|
NM_152564.5(VPS13B):c.9742+8T>A
|
rs2130865683
|
|
NM_152564.5(VPS13B):c.9742+9dup
|
|
|
NM_152564.5(VPS13B):c.9742G>A (p.Asp3248Asn)
|
rs774374731
|
|
NM_152564.5(VPS13B):c.9743-10A>T
|
|
|
NM_152564.5(VPS13B):c.9743-16T>G
|
|
|
NM_152564.5(VPS13B):c.9743-17C>T
|
|
|
NM_152564.5(VPS13B):c.9743-2A>C
|
rs1815345770
|
|
NM_152564.5(VPS13B):c.9743-4T>G
|
rs1450351706
|
|
NM_152564.5(VPS13B):c.9743-5_9744del
|
|
|
NM_152564.5(VPS13B):c.9743-8A>C
|
|
|
NM_152564.5(VPS13B):c.9743-9A>T
|
rs2130866268
|
|
NM_152564.5(VPS13B):c.9745del (p.Ile3249fs)
|
|
|
NM_152564.5(VPS13B):c.9753G>A (p.Lys3251=)
|
|
|
NM_152564.5(VPS13B):c.9756T>G (p.Phe3252Leu)
|
|
|
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs)
|
rs768801125
|
|
NM_152564.5(VPS13B):c.975T>G (p.Pro325=)
|
rs1554625544
|
|
NM_152564.5(VPS13B):c.9760G>A (p.Val3254Ile)
|
|
|
NM_152564.5(VPS13B):c.9765T>C (p.Tyr3255=)
|
rs1203586505
|
|
NM_152564.5(VPS13B):c.9775A>C (p.Ile3259Leu)
|
rs1425945549
|
|
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs)
|
rs774357106
|
|
NM_152564.5(VPS13B):c.9776T>C (p.Ile3259Thr)
|
rs1815347853
|
|
NM_152564.5(VPS13B):c.9782C>G (p.Ser3261Cys)
|
rs1372759268
|
|
NM_152564.5(VPS13B):c.9783C>A (p.Ser3261=)
|
|
|
NM_152564.5(VPS13B):c.9792A>G (p.Ser3264=)
|
|
|
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter)
|
rs1205613982
|
|
NM_152564.5(VPS13B):c.9807G>A (p.Leu3269=)
|
|
|
NM_152564.5(VPS13B):c.981G>A (p.Gln327=)
|
|
|
NM_152564.5(VPS13B):c.9822C>T (p.Ser3274=)
|
|
|
NM_152564.5(VPS13B):c.9824G>T (p.Ser3275Ile)
|
rs1815351031
|
|
NM_152564.5(VPS13B):c.9827A>G (p.Tyr3276Cys)
|
|
|
NM_152564.5(VPS13B):c.9827A>T (p.Tyr3276Phe)
|
rs563162284
|
|
NM_152564.5(VPS13B):c.9828T>C (p.Tyr3276=)
|
|
|
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs)
|
rs1057516568
|
|
NM_152564.5(VPS13B):c.9832G>C (p.Asp3278His)
|
|
|
NM_152564.5(VPS13B):c.9843_9862del (p.Lys3282fs)
|
rs2130866580
|
|
NM_152564.5(VPS13B):c.984T>A (p.His328Gln)
|
|
|
NM_152564.5(VPS13B):c.9856C>G (p.Pro3286Ala)
|
|
|
NM_152564.5(VPS13B):c.9858A>G (p.Pro3286=)
|
|
|
NM_152564.5(VPS13B):c.9860G>A (p.Ser3287Asn)
|
|
|
NM_152564.5(VPS13B):c.986A>C (p.Lys329Thr)
|
rs1195441250
|
|
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs)
|
rs1057516614
|
|
NM_152564.5(VPS13B):c.988G>A (p.Gly330Ser)
|
|
|
NM_152564.5(VPS13B):c.9891_9892insCCTCTAGA (p.Val3298fs)
|
rs2130866708
|
|
NM_152564.5(VPS13B):c.9905G>A (p.Trp3302Ter)
|
rs2130866735
|
|
NM_152564.5(VPS13B):c.9911A>G (p.Asp3304Gly)
|
rs2130866768
|
|
NM_152564.5(VPS13B):c.9915C>A (p.Ala3305=)
|
|
|
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs)
|
rs1554575679
|
|
NM_152564.5(VPS13B):c.9920A>G (p.Asp3307Gly)
|
|
|
NM_152564.5(VPS13B):c.9927C>T (p.Asn3309=)
|
|
|
NM_152564.5(VPS13B):c.9933G>A (p.Gln3311=)
|
rs2130866834
|
|
NM_152564.5(VPS13B):c.9934_9942+5del
|
rs1554575693
|
|
NM_152564.5(VPS13B):c.9938dup (p.Gln3314fs)
|
|
|
NM_152564.5(VPS13B):c.993A>G (p.Gln331=)
|
|
|
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer)
|
rs1301330402
|
|
NM_152564.5(VPS13B):c.9942+12A>G
|
|
|
NM_152564.5(VPS13B):c.9942+17T>A
|
|
|
NM_152564.5(VPS13B):c.9942+1G>A
|
rs1057517063
|
|
NM_152564.5(VPS13B):c.9942+1G>T
|
rs1057517063
|
|
NM_152564.5(VPS13B):c.9942+20C>T
|
rs1490242319
|
|
NM_152564.5(VPS13B):c.9942+4A>C
|
|
|
NM_152564.5(VPS13B):c.9942+4A>G
|
rs772319548
|
|
NM_152564.5(VPS13B):c.9942+7G>A
|
|
|
NM_152564.5(VPS13B):c.9942+7G>C
|
rs528134335
|
|
NM_152564.5(VPS13B):c.9942+9G>A
|
rs942110632
|
|
NM_152564.5(VPS13B):c.9943-11T>C
|
|
|
NM_152564.5(VPS13B):c.9943-11T>G
|
rs1816110809
|
|
NM_152564.5(VPS13B):c.9943-17G>T
|
|
|
NM_152564.5(VPS13B):c.9943-1G>A
|
|
|
NM_152564.5(VPS13B):c.9943-2A>G
|
rs1816111137
|
|
NM_152564.5(VPS13B):c.9943-4G>T
|
rs2130902382
|
|
NM_152564.5(VPS13B):c.9943-7T>C
|
|
|
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe)
|
rs116746734
|
|
NM_152564.5(VPS13B):c.9945T>G (p.Val3315=)
|
|
|
NM_152564.5(VPS13B):c.994G>C (p.Glu332Gln)
|
|
|
NM_152564.5(VPS13B):c.9952C>T (p.Leu3318=)
|
|
|
NM_152564.5(VPS13B):c.995A>G (p.Glu332Gly)
|
|
|
NM_152564.5(VPS13B):c.9974A>G (p.Tyr3325Cys)
|
|
|
NM_152564.5(VPS13B):c.997T>C (p.Leu333=)
|
|
|
NM_152564.5(VPS13B):c.9981T>C (p.Asp3327=)
|
|
|
NM_152564.5(VPS13B):c.9985G>C (p.Val3329Leu)
|
|
|
NM_152564.5(VPS13B):c.9G>A (p.Glu3=)
|
|
|
NM_152564.5(VPS13B):c.[1044G>A;8916G>A]
|
|
|