NM_152564.5(VPS13B):c.*702dup
|
rs200421894
|
0.03823
|
NM_152564.4(VPS13B):c.*1932T>G
|
rs10106711
|
0.01850
|
NM_152564.5(VPS13B):c.*336_*353dup
|
rs554420171
|
0.01237
|
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)
|
rs138127778
|
0.00637
|
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.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.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.2643A>T (p.Lys881Asn)
|
rs148777544
|
0.00243
|
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.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.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
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.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.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.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.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.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.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.2377C>G (p.Leu793Val)
|
rs141638933
|
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.6658-13T>A
|
rs369117364
|
0.00019
|
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.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.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.7434A>G (p.Ala2478=)
|
rs373550277
|
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.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.934A>G (p.Thr312Ala)
|
rs780702951
|
0.00014
|
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.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.2470T>G (p.Ser824Ala)
|
rs149866274
|
0.00012
|
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)
|
rs375399419
|
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.3621C>T (p.Leu1207=)
|
rs373889030
|
0.00011
|
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr)
|
rs143566455
|
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.3297A>C (p.Thr1099=)
|
rs200982547
|
0.00010
|
NM_152564.5(VPS13B):c.7266T>C (p.Gly2422=)
|
rs766519309
|
0.00010
|
NM_152564.5(VPS13B):c.10868-7G>A
|
rs376141593
|
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.2013+20A>G
|
rs199709281
|
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.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.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.9743-18C>G
|
rs760570932
|
0.00007
|
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.11216-6T>C
|
rs780721865
|
0.00006
|
NM_152564.5(VPS13B):c.11495+18C>T
|
rs151025899
|
0.00006
|
NM_152564.5(VPS13B):c.1209C>T (p.Leu403=)
|
rs756539595
|
0.00006
|
NM_152564.5(VPS13B):c.1303-9G>A
|
rs370251445
|
0.00006
|
NM_152564.5(VPS13B):c.2655T>C (p.Asp885=)
|
rs769466569
|
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.4890G>A (p.Val1630=)
|
rs144069822
|
0.00006
|
NM_152564.5(VPS13B):c.5077-14C>T
|
rs181830964
|
0.00006
|
NM_152564.5(VPS13B):c.6046+18T>G
|
rs1009720045
|
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.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.9948G>A (p.Val3316=)
|
rs757595357
|
0.00006
|
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.1530C>T (p.Arg510=)
|
rs149919865
|
0.00005
|
NM_152564.5(VPS13B):c.1652-9T>A
|
rs375615155
|
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.3873A>G (p.Gly1291=)
|
rs772263007
|
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.9608G>C (p.Cys3203Ser)
|
rs747611342
|
0.00005
|
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.10809G>A (p.Ala3603=)
|
rs768029540
|
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.11208C>T (p.Ser3736=)
|
rs751880506
|
0.00004
|
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=)
|
rs760377055
|
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.1564-15T>C
|
rs367784958
|
0.00004
|
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)
|
rs138171489
|
0.00004
|
NM_152564.5(VPS13B):c.2016C>T (p.Asn672=)
|
rs780448792
|
0.00004
|
NM_152564.5(VPS13B):c.2328A>G (p.Thr776=)
|
rs760800494
|
0.00004
|
NM_152564.5(VPS13B):c.2651-8C>A
|
rs201628860
|
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.3432C>T (p.Pro1144=)
|
rs375994361
|
0.00004
|
NM_152564.5(VPS13B):c.345C>T (p.Ser115=)
|
rs372489158
|
0.00004
|
NM_152564.5(VPS13B):c.3564G>A (p.Thr1188=)
|
rs140905518
|
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.4240C>T (p.Leu1414=)
|
rs754939057
|
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.5077-13G>A
|
rs376055963
|
0.00004
|
NM_152564.5(VPS13B):c.510C>T (p.Ser170=)
|
rs749836132
|
0.00004
|
NM_152564.5(VPS13B):c.6047-10A>G
|
rs761450531
|
0.00004
|
NM_152564.5(VPS13B):c.6658-8T>C
|
rs1448547844
|
0.00004
|
NM_152564.5(VPS13B):c.7245A>G (p.Gln2415=)
|
rs781046978
|
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.8994+16T>A
|
rs764950051
|
0.00004
|
NM_152564.5(VPS13B):c.9135G>A (p.Ala3045=)
|
rs574238919
|
0.00004
|
NM_152564.5(VPS13B):c.9742+18G>A
|
rs747567587
|
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.10533A>G (p.Thr3511=)
|
rs763725361
|
0.00003
|
NM_152564.5(VPS13B):c.10611C>T (p.Ser3537=)
|
rs779390295
|
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.10827C>G (p.Ala3609=)
|
rs765577341
|
0.00003
|
NM_152564.5(VPS13B):c.10868-18C>T
|
rs755945215
|
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.1206+23T>A
|
rs745316537
|
0.00003
|
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=)
|
rs760564848
|
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.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.3871-8C>T
|
rs371508311
|
0.00003
|
NM_152564.5(VPS13B):c.450T>C (p.Asn150=)
|
rs746257136
|
0.00003
|
NM_152564.5(VPS13B):c.5667G>A (p.Gly1889=)
|
rs1196457576
|
0.00003
|
NM_152564.5(VPS13B):c.581-10T>C
|
rs770058631
|
0.00003
|
NM_152564.5(VPS13B):c.6528C>T (p.Ser2176=)
|
rs752917912
|
0.00003
|
NM_152564.5(VPS13B):c.723A>G (p.Thr241=)
|
rs778049327
|
0.00003
|
NM_152564.5(VPS13B):c.8361+13G>A
|
rs757732868
|
0.00003
|
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=)
|
rs763701016
|
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.90A>G (p.Leu30=)
|
rs771860546
|
0.00003
|
NM_152564.5(VPS13B):c.9421T>C (p.Leu3141=)
|
rs373968887
|
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_152564.5(VPS13B):c.10062-7C>T
|
rs1588785807
|
0.00002
|
NM_152564.5(VPS13B):c.10239G>A (p.Ala3413=)
|
rs749865979
|
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.11049C>T (p.Thr3683=)
|
rs1474618669
|
0.00002
|
NM_152564.5(VPS13B):c.11058C>T (p.Ser3686=)
|
rs1242117872
|
0.00002
|
NM_152564.5(VPS13B):c.11495+10T>C
|
rs1250469602
|
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.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.1425+8C>T
|
rs758851977
|
0.00002
|
NM_152564.5(VPS13B):c.1776T>C (p.His592=)
|
rs756818683
|
0.00002
|
NM_152564.5(VPS13B):c.2014-12A>G
|
rs559491564
|
0.00002
|
NM_152564.5(VPS13B):c.2333+11C>A
|
rs757148916
|
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.2935-8C>G
|
rs762645139
|
0.00002
|
NM_152564.5(VPS13B):c.3162G>A (p.Lys1054=)
|
rs776213275
|
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.3813A>G (p.Thr1271=)
|
rs775071483
|
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.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.4779T>C (p.Pro1593=)
|
rs764443970
|
0.00002
|
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=)
|
rs765924507
|
0.00002
|
NM_152564.5(VPS13B):c.5295T>C (p.Gly1765=)
|
rs139459037
|
0.00002
|
NM_152564.5(VPS13B):c.5850G>A (p.Val1950=)
|
rs747547095
|
0.00002
|
NM_152564.5(VPS13B):c.6455-13A>G
|
rs1832959231
|
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.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.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.7942-13T>G
|
rs761317351
|
0.00002
|
NM_152564.5(VPS13B):c.7942-19T>A
|
rs200318613
|
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.8202G>C (p.Arg2734=)
|
rs759728712
|
0.00002
|
NM_152564.5(VPS13B):c.8445+50del
|
rs761647040
|
0.00002
|
NM_152564.5(VPS13B):c.8621+18C>T
|
rs752131066
|
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.9330+17G>A
|
rs375248298
|
0.00002
|
NM_152564.5(VPS13B):c.9399C>T (p.Ser3133=)
|
rs773831188
|
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.9780C>T (p.Pro3260=)
|
rs781671301
|
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_017890.5(VPS13B):c.4180T>C (p.Leu1394=)
|
rs1246500568
|
0.00001
|
NM_017890.5(VPS13B):c.4218C>T (p.Asp1406=)
|
rs1227316936
|
0.00001
|
NM_017890.5(VPS13B):c.4233C>T (p.Arg1411=)
|
rs949322913
|
0.00001
|
NM_017890.5(VPS13B):c.4281C>T (p.Cys1427=)
|
rs1563767252
|
0.00001
|
NM_152564.5(VPS13B):c.10023A>G (p.Pro3341=)
|
rs767423737
|
0.00001
|
NM_152564.5(VPS13B):c.10047A>G (p.Leu3349=)
|
rs1816115503
|
0.00001
|
NM_152564.5(VPS13B):c.10062-6C>T
|
rs745353782
|
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.10152T>G (p.Ala3384=)
|
rs374129601
|
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.10359C>A (p.Pro3453=)
|
rs1444426292
|
0.00001
|
NM_152564.5(VPS13B):c.10410A>G (p.Glu3470=)
|
rs751254612
|
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.10539A>G (p.Val3513=)
|
rs753290639
|
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.10719C>T (p.Ser3573=)
|
rs888814815
|
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.10797C>T (p.Ile3599=)
|
rs769445328
|
0.00001
|
NM_152564.5(VPS13B):c.10828C>T (p.Leu3610=)
|
rs1265301398
|
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+7A>G
|
rs1378858300
|
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.10926C>A (p.Ile3642=)
|
rs753373848
|
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.11022G>A (p.Ser3674=)
|
rs375676564
|
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.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.11070C>T (p.Leu3690=)
|
rs185477101
|
0.00001
|
NM_152564.5(VPS13B):c.1107C>T (p.Asn369=)
|
rs777015545
|
0.00001
|
NM_152564.5(VPS13B):c.11157C>T (p.Pro3719=)
|
rs774143549
|
0.00001
|
NM_152564.5(VPS13B):c.11196G>T (p.Arg3732=)
|
rs1284354271
|
0.00001
|
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=)
|
rs766658666
|
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.11355C>T (p.Ile3785=)
|
rs865965849
|
0.00001
|
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=)
|
rs1847925535
|
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.11442G>A (p.Gln3814=)
|
rs1249346975
|
0.00001
|
NM_152564.5(VPS13B):c.11457T>C (p.His3819=)
|
rs763130797
|
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.11518A>C (p.Arg3840=)
|
rs1343441630
|
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.11649C>G (p.Ala3883=)
|
rs781535467
|
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.11706A>G (p.Thr3902=)
|
rs532340798
|
0.00001
|
NM_152564.5(VPS13B):c.11718G>A (p.Lys3906=)
|
rs764961174
|
0.00001
|
NM_152564.5(VPS13B):c.11746-11T>C
|
rs947865858
|
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.11949A>G (p.Lys3983=)
|
rs745447477
|
0.00001
|
NM_152564.5(VPS13B):c.11993G>A (p.Ter3998=)
|
rs773765592
|
0.00001
|
NM_152564.5(VPS13B):c.1207-10T>C
|
rs1293563176
|
0.00001
|
NM_152564.5(VPS13B):c.1302+14A>G
|
rs750969500
|
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.1425+14C>T
|
rs1336315374
|
0.00001
|
NM_152564.5(VPS13B):c.148-10G>A
|
rs779842255
|
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.1593A>G (p.Gln531=)
|
rs1435002712
|
0.00001
|
NM_152564.5(VPS13B):c.1602G>T (p.Gly534=)
|
rs1266552493
|
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.1696T>C (p.Leu566=)
|
rs767273023
|
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.1953A>G (p.Thr651=)
|
rs756544361
|
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.207A>T (p.Val69=)
|
rs772922484
|
0.00001
|
NM_152564.5(VPS13B):c.2109A>C (p.Ser703=)
|
rs1269866492
|
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.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.2334-13T>G
|
rs768924726
|
0.00001
|
NM_152564.5(VPS13B):c.234A>G (p.Pro78=)
|
rs372597619
|
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.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.2853A>C (p.Gly951=)
|
rs374898875
|
0.00001
|
NM_152564.5(VPS13B):c.2880A>G (p.Leu960=)
|
rs760792770
|
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.2935-12G>T
|
rs1394216324
|
0.00001
|
NM_152564.5(VPS13B):c.297C>T (p.Asp99=)
|
rs1295312029
|
0.00001
|
NM_152564.5(VPS13B):c.3030A>G (p.Ser1010=)
|
rs749186173
|
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.3084A>G (p.Glu1028=)
|
rs150505597
|
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.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.3333G>A (p.Pro1111=)
|
rs367791771
|
0.00001
|
NM_152564.5(VPS13B):c.3381G>A (p.Gly1127=)
|
rs753370533
|
0.00001
|
NM_152564.5(VPS13B):c.339T>G (p.Ala113=)
|
rs200619753
|
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.3465G>A (p.Thr1155=)
|
rs779726673
|
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.3594T>C (p.Asp1198=)
|
rs779156454
|
0.00001
|
NM_152564.5(VPS13B):c.3615C>T (p.Val1205=)
|
rs761670389
|
0.00001
|
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=)
|
rs751715193
|
0.00001
|
NM_152564.5(VPS13B):c.378G>A (p.Gln126=)
|
rs1281161057
|
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.3909A>T (p.Ser1303=)
|
rs779666289
|
0.00001
|
NM_152564.5(VPS13B):c.3948A>G (p.Gly1316=)
|
rs975356010
|
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.4101A>T (p.Val1367=)
|
rs1159683768
|
0.00001
|
NM_152564.5(VPS13B):c.4140T>A (p.Ile1380=)
|
rs763157781
|
0.00001
|
NM_152564.5(VPS13B):c.4224+6A>G
|
rs1173901763
|
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.4308C>T (p.Val1436=)
|
rs762315814
|
0.00001
|
NM_152564.5(VPS13B):c.4386T>C (p.His1462=)
|
rs1821775372
|
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.4633+14A>G
|
rs763556763
|
0.00001
|
NM_152564.5(VPS13B):c.4633+17T>C
|
rs941869950
|
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.4833T>C (p.Ile1611=)
|
rs1380489766
|
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.4950-10dup
|
rs761293145
|
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.513C>T (p.Val171=)
|
rs1846845460
|
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.5220+10A>C
|
rs1221192419
|
0.00001
|
NM_152564.5(VPS13B):c.5220+8T>C
|
rs78899648
|
0.00001
|
NM_152564.5(VPS13B):c.5221-5T>C
|
rs761788793
|
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.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.5541G>A (p.Lys1847=)
|
rs771725660
|
0.00001
|
NM_152564.5(VPS13B):c.5556C>T (p.Leu1852=)
|
rs1379522761
|
0.00001
|
NM_152564.5(VPS13B):c.5613A>C (p.Thr1871=)
|
rs1417569777
|
0.00001
|
NM_152564.5(VPS13B):c.5658A>G (p.Lys1886=)
|
rs1338773440
|
0.00001
|
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=)
|
rs765209957
|
0.00001
|
NM_152564.5(VPS13B):c.5832C>T (p.His1944=)
|
rs372340783
|
0.00001
|
NM_152564.5(VPS13B):c.5889C>T (p.Ala1963=)
|
rs761911534
|
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.5964A>G (p.Thr1988=)
|
rs373595694
|
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.6047-4A>G
|
rs764928258
|
0.00001
|
NM_152564.5(VPS13B):c.6047-6C>T
|
rs1386160206
|
0.00001
|
NM_152564.5(VPS13B):c.6058T>C (p.Leu2020=)
|
rs377724023
|
0.00001
|
NM_152564.5(VPS13B):c.6147C>T (p.His2049=)
|
rs770132791
|
0.00001
|
NM_152564.5(VPS13B):c.6216C>A (p.Val2072=)
|
rs1315907540
|
0.00001
|
NM_152564.5(VPS13B):c.6258T>C (p.His2086=)
|
rs1472821351
|
0.00001
|
NM_152564.5(VPS13B):c.6339T>C (p.Thr2113=)
|
rs747262961
|
0.00001
|
NM_152564.5(VPS13B):c.6366T>C (p.Thr2122=)
|
rs769787067
|
0.00001
|
NM_152564.5(VPS13B):c.6417T>C (p.Asn2139=)
|
rs1359924343
|
0.00001
|
NM_152564.5(VPS13B):c.6456C>A (p.Gly2152=)
|
rs141845131
|
0.00001
|
NM_152564.5(VPS13B):c.6492C>T (p.Asn2164=)
|
rs773555887
|
0.00001
|
NM_152564.5(VPS13B):c.6531C>T (p.Arg2177=)
|
rs753694921
|
0.00001
|
NM_152564.5(VPS13B):c.6558T>G (p.Thr2186=)
|
rs779788114
|
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.6600A>G (p.Pro2200=)
|
rs1259627712
|
0.00001
|
NM_152564.5(VPS13B):c.6648T>C (p.Gly2216=)
|
rs746640467
|
0.00001
|
NM_152564.5(VPS13B):c.6723T>G (p.Leu2241=)
|
rs924902847
|
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.6948T>C (p.Tyr2316=)
|
rs774332625
|
0.00001
|
NM_152564.5(VPS13B):c.69G>C (p.Pro23=)
|
rs570877761
|
0.00001
|
NM_152564.5(VPS13B):c.7047A>G (p.Leu2349=)
|
rs201133836
|
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.7167G>A (p.Val2389=)
|
rs145846582
|
0.00001
|
NM_152564.5(VPS13B):c.7188A>G (p.Val2396=)
|
rs928101727
|
0.00001
|
NM_152564.5(VPS13B):c.7247+9T>C
|
rs545008110
|
0.00001
|
NM_152564.5(VPS13B):c.7284T>C (p.Asp2428=)
|
rs1811763314
|
0.00001
|
NM_152564.5(VPS13B):c.7371T>C (p.Ser2457=)
|
rs545012804
|
0.00001
|
NM_152564.5(VPS13B):c.7485A>G (p.Leu2495=)
|
rs746175640
|
0.00001
|
NM_152564.5(VPS13B):c.750A>G (p.Pro250=)
|
rs771965319
|
0.00001
|
NM_152564.5(VPS13B):c.763-10C>T
|
rs375512611
|
0.00001
|
NM_152564.5(VPS13B):c.7686G>A (p.Leu2562=)
|
rs1253906756
|
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.7734G>A (p.Gln2578=)
|
rs1237963374
|
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.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.7965T>C (p.Gly2655=)
|
rs758430817
|
0.00001
|
NM_152564.5(VPS13B):c.7974C>T (p.Asn2658=)
|
rs756420442
|
0.00001
|
NM_152564.5(VPS13B):c.8037C>T (p.Tyr2679=)
|
rs777019428
|
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.8271G>A (p.Thr2757=)
|
rs758044842
|
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.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.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.8595T>C (p.Leu2865=)
|
rs761233089
|
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.8769C>G (p.Pro2923=)
|
rs1814245219
|
0.00001
|
NM_152564.5(VPS13B):c.8793-6G>T
|
rs773442324
|
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.9061C>T (p.Leu3021=)
|
rs1158378699
|
0.00001
|
NM_152564.5(VPS13B):c.9121C>T (p.Leu3041=)
|
rs1223370834
|
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.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.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.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.9481C>T (p.Leu3161=)
|
rs201494563
|
0.00001
|
NM_152564.5(VPS13B):c.9483G>A (p.Leu3161=)
|
rs750174157
|
0.00001
|
NM_152564.5(VPS13B):c.9546A>G (p.Arg3182=)
|
rs1434707847
|
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.969A>G (p.Gln323=)
|
rs1443301786
|
0.00001
|
NM_152564.5(VPS13B):c.9742+12A>G
|
rs763822536
|
0.00001
|
NM_152564.5(VPS13B):c.9750A>G (p.Pro3250=)
|
rs764864362
|
0.00001
|
NM_152564.5(VPS13B):c.9957T>C (p.Thr3319=)
|
rs560490673
|
0.00001
|
NM_152564.5(VPS13B):c.9975T>C (p.Tyr3325=)
|
rs369522130
|
0.00001
|
NM_152564.5(VPS13B):c.999A>G (p.Leu333=)
|
rs762085583
|
0.00001
|
NM_017890.5(VPS13B):c.4164G>A (p.Gly1388=)
|
rs2133626492
|
|
NM_017890.5(VPS13B):c.4170G>A (p.Glu1390=)
|
|
|
NM_017890.5(VPS13B):c.4188A>G (p.Gln1396=)
|
|
|
NM_017890.5(VPS13B):c.4194A>T (p.Gly1398=)
|
rs1554824934
|
|
NM_017890.5(VPS13B):c.4206T>C (p.Leu1402=)
|
|
|
NM_017890.5(VPS13B):c.4215T>G (p.Thr1405=)
|
rs1455372294
|
|
NM_017890.5(VPS13B):c.4221G>A (p.Lys1407=)
|
|
|
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.4248A>G (p.Arg1416=)
|
rs1554825004
|
|
NM_017890.5(VPS13B):c.4260G>A (p.Lys1420=)
|
rs1183099236
|
|
NM_017890.5(VPS13B):c.4293T>C (p.Phe1431=)
|
rs2133626942
|
|
NM_152564.5(VPS13B):c.*1212TC[4]
|
rs1258731393
|
|
NM_152564.5(VPS13B):c.*250_*252dup
|
rs71274940
|
|
NM_152564.5(VPS13B):c.*33_*36dup
|
rs373852425
|
|
NM_152564.5(VPS13B):c.*374ATTT[1]
|
rs374440758
|
|
NM_152564.5(VPS13B):c.*597_*598dup
|
rs397791669
|
|
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.10020C>A (p.Ala3340=)
|
|
|
NM_152564.5(VPS13B):c.1002T>C (p.Tyr334=)
|
|
|
NM_152564.5(VPS13B):c.10038A>G (p.Gly3346=)
|
|
|
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.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.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.10062-4C>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.10095C>T (p.Phe3365=)
|
|
|
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.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>T (p.Leu3387=)
|
rs2130916651
|
|
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.10194G>A (p.Val3398=)
|
|
|
NM_152564.5(VPS13B):c.10197C>T (p.Ala3399=)
|
rs1816400490
|
|
NM_152564.5(VPS13B):c.10203A>T (p.Gly3401=)
|
|
|
NM_152564.5(VPS13B):c.1020G>A (p.Glu340=)
|
|
|
NM_152564.5(VPS13B):c.10215C>T (p.Leu3405=)
|
|
|
NM_152564.5(VPS13B):c.10227G>A (p.Glu3409=)
|
rs2130916876
|
|
NM_152564.5(VPS13B):c.10233G>A (p.Val3411=)
|
|
|
NM_152564.5(VPS13B):c.10233G>C (p.Val3411=)
|
|
|
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.10263G>A (p.Glu3421=)
|
|
|
NM_152564.5(VPS13B):c.10266C>T (p.Ile3422=)
|
|
|
NM_152564.5(VPS13B):c.10272T>C (p.Cys3424=)
|
|
|
NM_152564.5(VPS13B):c.10299T>C (p.Leu3433=)
|
|
|
NM_152564.5(VPS13B):c.10320C>T (p.His3440=)
|
|
|
NM_152564.5(VPS13B):c.10326T>G (p.Ala3442=)
|
rs2130917205
|
|
NM_152564.5(VPS13B):c.1032A>G (p.Gly344=)
|
|
|
NM_152564.5(VPS13B):c.10335C>T (p.Val3445=)
|
rs575624046
|
|
NM_152564.5(VPS13B):c.10344A>G (p.Gly3448=)
|
|
|
NM_152564.5(VPS13B):c.10356A>G (p.Glu3452=)
|
rs2130917266
|
|
NM_152564.5(VPS13B):c.10359C>T (p.Pro3453=)
|
|
|
NM_152564.5(VPS13B):c.10371C>T (p.Ser3457=)
|
|
|
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.10405T>C (p.Leu3469=)
|
|
|
NM_152564.5(VPS13B):c.10413A>G (p.Glu3471=)
|
|
|
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.10449C>T (p.Thr3483=)
|
|
|
NM_152564.5(VPS13B):c.10455T>C (p.Asn3485=)
|
rs2130917547
|
|
NM_152564.5(VPS13B):c.10458A>G (p.Glu3486=)
|
rs2130917565
|
|
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.10497T>C (p.Phe3499=)
|
rs781420614
|
|
NM_152564.5(VPS13B):c.10501T>C (p.Leu3501=)
|
|
|
NM_152564.5(VPS13B):c.10513C>A (p.Arg3505=)
|
|
|
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.10539A>T (p.Val3513=)
|
|
|
NM_152564.5(VPS13B):c.10557G>A (p.Leu3519=)
|
rs2130917868
|
|
NM_152564.5(VPS13B):c.10563C>T (p.Asp3521=)
|
|
|
NM_152564.5(VPS13B):c.10578C>T (p.Asn3526=)
|
|
|
NM_152564.5(VPS13B):c.10581C>T (p.Ser3527=)
|
rs770945510
|
|
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.10605C>T (p.His3535=)
|
rs937349095
|
|
NM_152564.5(VPS13B):c.10629G>A (p.Leu3543=)
|
|
|
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.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.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.10707T>C (p.Asn3569=)
|
|
|
NM_152564.5(VPS13B):c.10728T>C (p.Ala3576=)
|
|
|
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.10761T>C (p.Thr3587=)
|
|
|
NM_152564.5(VPS13B):c.10764T>G (p.Pro3588=)
|
rs1477900241
|
|
NM_152564.5(VPS13B):c.10770C>T (p.Ser3590=)
|
|
|
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.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.10800C>T (p.Phe3600=)
|
|
|
NM_152564.5(VPS13B):c.1080C>T (p.Asp360=)
|
rs755878394
|
|
NM_152564.5(VPS13B):c.10818T>C (p.Leu3606=)
|
|
|
NM_152564.5(VPS13B):c.10821G>A (p.Val3607=)
|
rs1554581864
|
|
NM_152564.5(VPS13B):c.1082A>G (p.Asp361Gly)
|
|
|
NM_152564.5(VPS13B):c.10830G>A (p.Leu3610=)
|
|
|
NM_152564.5(VPS13B):c.10842T>C (p.Tyr3614=)
|
rs2130918674
|
|
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+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.10868-5T>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.10878T>C (p.Val3626=)
|
rs1334951450
|
|
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.10938C>T (p.Val3646=)
|
rs758028194
|
|
NM_152564.5(VPS13B):c.10959G>C (p.Pro3653=)
|
|
|
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.10977G>A (p.Arg3659=)
|
|
|
NM_152564.5(VPS13B):c.10980C>A (p.Gly3660=)
|
|
|
NM_152564.5(VPS13B):c.10983T>C (p.Pro3661=)
|
|
|
NM_152564.5(VPS13B):c.1098T>C (p.Phe366=)
|
rs1490561096
|
|
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.11019A>T (p.Thr3673=)
|
rs1588794390
|
|
NM_152564.5(VPS13B):c.1101T>C (p.Val367=)
|
|
|
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.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+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.11055A>G (p.Thr3685=)
|
rs2130941627
|
|
NM_152564.5(VPS13B):c.11061C>T (p.Ile3687=)
|
rs2130941649
|
|
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.11097C>T (p.Asp3699=)
|
|
|
NM_152564.5(VPS13B):c.11103C>A (p.Leu3701=)
|
|
|
NM_152564.5(VPS13B):c.11103C>G (p.Leu3701=)
|
|
|
NM_152564.5(VPS13B):c.1110T>C (p.Asp370=)
|
|
|
NM_152564.5(VPS13B):c.11115G>A (p.Glu3705=)
|
|
|
NM_152564.5(VPS13B):c.11124C>T (p.Tyr3708=)
|
rs2130941863
|
|
NM_152564.5(VPS13B):c.11139G>A (p.Glu3713=)
|
|
|
NM_152564.5(VPS13B):c.11148G>A (p.Arg3716=)
|
rs2130941995
|
|
NM_152564.5(VPS13B):c.11169C>G (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.11187C>G (p.Gly3729=)
|
|
|
NM_152564.5(VPS13B):c.11188C>T (p.Leu3730=)
|
rs201448515
|
|
NM_152564.5(VPS13B):c.11199G>A (p.Leu3733=)
|
|
|
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.11220A>G (p.Ala3740=)
|
|
|
NM_152564.5(VPS13B):c.11223T>C (p.Ile3741=)
|
|
|
NM_152564.5(VPS13B):c.1122C>A (p.Thr374=)
|
rs2132516445
|
|
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.11265A>G (p.Thr3755=)
|
|
|
NM_152564.5(VPS13B):c.11283A>C (p.Ser3761=)
|
rs1817209374
|
|
NM_152564.5(VPS13B):c.1128T>C (p.His376=)
|
|
|
NM_152564.5(VPS13B):c.11292C>T (p.His3764=)
|
|
|
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.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.11331C>T (p.Ile3777=)
|
|
|
NM_152564.5(VPS13B):c.11337G>C (p.Gly3779=)
|
rs2130963173
|
|
NM_152564.5(VPS13B):c.11355C>A (p.Ile3785=)
|
|
|
NM_152564.5(VPS13B):c.11364T>G (p.Ala3788=)
|
|
|
NM_152564.5(VPS13B):c.11371C>T (p.Leu3791=)
|
rs1817214262
|
|
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+20A>G
|
|
|
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.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.11393-20C>G
|
|
|
NM_152564.5(VPS13B):c.11393-6C>A
|
|
|
NM_152564.5(VPS13B):c.11394T>C (p.Gly3798=)
|
rs2130972325
|
|
NM_152564.5(VPS13B):c.11403T>C (p.His3801=)
|
|
|
NM_152564.5(VPS13B):c.11409T>A (p.Ala3803=)
|
rs2130972371
|
|
NM_152564.5(VPS13B):c.11415T>G (p.Leu3805=)
|
rs2130972392
|
|
NM_152564.5(VPS13B):c.11418T>C (p.Ser3806=)
|
rs2130972408
|
|
NM_152564.5(VPS13B):c.11433G>A (p.Gln3811=)
|
rs1362645493
|
|
NM_152564.5(VPS13B):c.11436C>A (p.Arg3812=)
|
|
|
NM_152564.5(VPS13B):c.11454A>G (p.Leu3818=)
|
rs2130972563
|
|
NM_152564.5(VPS13B):c.11472A>G (p.Pro3824=)
|
rs2130972634
|
|
NM_152564.5(VPS13B):c.11478C>T (p.Ser3826=)
|
|
|
NM_152564.5(VPS13B):c.11484C>G (p.Val3828=)
|
rs370697316
|
|
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+17A>G
|
rs2130972872
|
|
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.11496-6A>G
|
rs2130975190
|
|
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.11523A>C (p.Pro3841=)
|
|
|
NM_152564.5(VPS13B):c.11526A>G (p.Glu3842=)
|
rs753590864
|
|
NM_152564.5(VPS13B):c.11529C>T (p.Val3843=)
|
rs2130975340
|
|
NM_152564.5(VPS13B):c.11538C>T (p.Ala3846=)
|
|
|
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.11574G>A (p.Glu3858=)
|
|
|
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.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.11601A>C (p.Ser3867=)
|
|
|
NM_152564.5(VPS13B):c.11601A>G (p.Ser3867=)
|
rs2130975550
|
|
NM_152564.5(VPS13B):c.11607G>A (p.Val3869=)
|
|
|
NM_152564.5(VPS13B):c.11619G>A (p.Val3873=)
|
rs113454700
|
|
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.11655C>G (p.Pro3885=)
|
rs368092348
|
|
NM_152564.5(VPS13B):c.11658C>T (p.Val3886=)
|
rs2130975807
|
|
NM_152564.5(VPS13B):c.11673T>C (p.Cys3891=)
|
rs2130975878
|
|
NM_152564.5(VPS13B):c.11679G>A (p.Gln3893=)
|
rs779149986
|
|
NM_152564.5(VPS13B):c.1167T>C (p.Ser389=)
|
|
|
NM_152564.5(VPS13B):c.11691G>A (p.Gln3897=)
|
rs371985144
|
|
NM_152564.5(VPS13B):c.11709G>A (p.Val3903=)
|
rs1206063860
|
|
NM_152564.5(VPS13B):c.11721G>A (p.Gln3907=)
|
rs2130976100
|
|
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.11745+10A>G
|
|
|
NM_152564.5(VPS13B):c.11745+13A>G
|
|
|
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.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.11746-7A>C
|
rs1817651650
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
NM_152564.5(VPS13B):c.11769G>A (p.Leu3923=)
|
|
|
NM_152564.5(VPS13B):c.11769G>C (p.Leu3923=)
|
|
|
NM_152564.5(VPS13B):c.11775G>A (p.Glu3925=)
|
|
|
NM_152564.5(VPS13B):c.11778A>G (p.Gln3926=)
|
|
|
NM_152564.5(VPS13B):c.11793G>A (p.Leu3931=)
|
|
|
NM_152564.5(VPS13B):c.117G>A (p.Lys39=)
|
|
|
NM_152564.5(VPS13B):c.11805C>T (p.Ile3935=)
|
|
|
NM_152564.5(VPS13B):c.11823C>T (p.His3941=)
|
|
|
NM_152564.5(VPS13B):c.11829C>T (p.Ala3943=)
|
|
|
NM_152564.5(VPS13B):c.11841T>G (p.Ser3947=)
|
rs1257015556
|
|
NM_152564.5(VPS13B):c.11859C>T (p.Cys3953=)
|
|
|
NM_152564.5(VPS13B):c.11862T>A (p.Pro3954=)
|
|
|
NM_152564.5(VPS13B):c.11862T>G (p.Pro3954=)
|
|
|
NM_152564.5(VPS13B):c.11880T>C (p.Pro3960=)
|
|
|
NM_152564.5(VPS13B):c.11886C>G (p.Pro3962=)
|
|
|
NM_152564.5(VPS13B):c.11889C>T (p.Ser3963=)
|
|
|
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.11911C>T (p.Leu3971=)
|
rs2130990707
|
|
NM_152564.5(VPS13B):c.1194G>A (p.Thr398=)
|
|
|
NM_152564.5(VPS13B):c.11955C>T (p.Thr3985=)
|
|
|
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.11985G>T (p.Gly3995=)
|
|
|
NM_152564.5(VPS13B):c.11991T>C (p.Pro3997=)
|
|
|
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+7C>G
|
|
|
NM_152564.5(VPS13B):c.1206+8T>G
|
rs889247005
|
|
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.1227G>A (p.Glu409=)
|
|
|
NM_152564.5(VPS13B):c.1236T>C (p.Tyr412=)
|
rs1355692148
|
|
NM_152564.5(VPS13B):c.123G>A (p.Glu41=)
|
|
|
NM_152564.5(VPS13B):c.1245A>G (p.Pro415=)
|
rs2132554032
|
|
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.1269A>G (p.Val423=)
|
|
|
NM_152564.5(VPS13B):c.1281A>G (p.Glu427=)
|
rs370660111
|
|
NM_152564.5(VPS13B):c.1293T>A (p.Thr431=)
|
rs77759532
|
|
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.1303-19G>A
|
|
|
NM_152564.5(VPS13B):c.1303-19G>T
|
|
|
NM_152564.5(VPS13B):c.1303-20T>C
|
|
|
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.1323T>C (p.Pro441=)
|
rs2132555095
|
|
NM_152564.5(VPS13B):c.1335C>T (p.Cys445=)
|
|
|
NM_152564.5(VPS13B):c.1347T>C (p.Phe449=)
|
rs2132555166
|
|
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.1386T>C (p.Gly462=)
|
|
|
NM_152564.5(VPS13B):c.138G>A (p.Val46=)
|
rs1841451847
|
|
NM_152564.5(VPS13B):c.139C>T (p.Leu47=)
|
rs2132125682
|
|
NM_152564.5(VPS13B):c.141G>C (p.Leu47=)
|
rs1841451940
|
|
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.1431C>G (p.Ala477=)
|
|
|
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.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>T (p.Tyr493=)
|
rs751986362
|
|
NM_152564.5(VPS13B):c.148-10G>T
|
|
|
NM_152564.5(VPS13B):c.148-5T>C
|
|
|
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.150A>G (p.Glu50=)
|
rs2132221924
|
|
NM_152564.5(VPS13B):c.1527T>C (p.Thr509=)
|
rs778708757
|
|
NM_152564.5(VPS13B):c.1533A>G (p.Ala511=)
|
rs2132556812
|
|
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+9A>T
|
|
|
NM_152564.5(VPS13B):c.1563+9del
|
|
|
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.1569A>G (p.Thr523=)
|
rs797046094
|
|
NM_152564.5(VPS13B):c.1572C>T (p.Tyr524=)
|
rs2132559241
|
|
NM_152564.5(VPS13B):c.1575T>C (p.Thr525=)
|
rs1810085883
|
|
NM_152564.5(VPS13B):c.1584T>C (p.Ala528=)
|
rs2132559289
|
|
NM_152564.5(VPS13B):c.1596G>T (p.Arg532=)
|
|
|
NM_152564.5(VPS13B):c.1602G>A (p.Gly534=)
|
rs1266552493
|
|
NM_152564.5(VPS13B):c.1623G>A (p.Leu541=)
|
rs1193051483
|
|
NM_152564.5(VPS13B):c.1626T>C (p.Tyr542=)
|
|
|
NM_152564.5(VPS13B):c.1651+14T>C
|
|
|
NM_152564.5(VPS13B):c.1651+8C>T
|
rs2132559576
|
|
NM_152564.5(VPS13B):c.1651+9T>A
|
rs2132559589
|
|
NM_152564.5(VPS13B):c.1652-12G>C
|
|
|
NM_152564.5(VPS13B):c.1652-19A>G
|
|
|
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.1659A>T (p.Thr553=)
|
|
|
NM_152564.5(VPS13B):c.1662T>C (p.Asn554=)
|
|
|
NM_152564.5(VPS13B):c.1665A>G (p.Gln555=)
|
rs1459744373
|
|
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.1713G>A (p.Glu571=)
|
rs753346782
|
|
NM_152564.5(VPS13B):c.171T>C (p.Phe57=)
|
rs2132221990
|
|
NM_152564.5(VPS13B):c.1752T>C (p.Phe584=)
|
|
|
NM_152564.5(VPS13B):c.1755T>C (p.Arg585=)
|
rs762989966
|
|
NM_152564.5(VPS13B):c.1761T>C (p.Asp587=)
|
|
|
NM_152564.5(VPS13B):c.1764C>T (p.Ser588=)
|
rs2132581334
|
|
NM_152564.5(VPS13B):c.1773G>A (p.Val591=)
|
|
|
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.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.1844-8A>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.1869A>T (p.Ile623=)
|
rs1432601796
|
|
NM_152564.5(VPS13B):c.186T>C (p.Ile62=)
|
|
|
NM_152564.5(VPS13B):c.1875T>C (p.Asn625=)
|
|
|
NM_152564.5(VPS13B):c.1887G>C (p.Val629=)
|
rs138291421
|
|
NM_152564.5(VPS13B):c.1890T>C (p.Ala630=)
|
|
|
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.1911T>C (p.Pro637=)
|
|
|
NM_152564.5(VPS13B):c.192A>G (p.Glu64=)
|
|
|
NM_152564.5(VPS13B):c.1932T>G (p.Thr644=)
|
|
|
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.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.1959C>G (p.Ser653=)
|
rs2132597068
|
|
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.2001T>A (p.Ile667=)
|
rs747119024
|
|
NM_152564.5(VPS13B):c.2007A>C (p.Gly669=)
|
|
|
NM_152564.5(VPS13B):c.2007A>T (p.Gly669=)
|
rs1242797162
|
|
NM_152564.5(VPS13B):c.2013+15T>C
|
|
|
NM_152564.5(VPS13B):c.2013+19T>C
|
|
|
NM_152564.5(VPS13B):c.2014-15A>G
|
rs1811373750
|
|
NM_152564.5(VPS13B):c.2014-7T>A
|
|
|
NM_152564.5(VPS13B):c.2019A>C (p.Ser673=)
|
|
|
NM_152564.5(VPS13B):c.2034T>C (p.Asn678=)
|
rs2132624190
|
|
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.207A>G (p.Val69=)
|
|
|
NM_152564.5(VPS13B):c.2100G>T (p.Leu700=)
|
|
|
NM_152564.5(VPS13B):c.2103A>G (p.Glu701=)
|
|
|
NM_152564.5(VPS13B):c.210A>C (p.Pro70=)
|
|
|
NM_152564.5(VPS13B):c.210A>G (p.Pro70=)
|
|
|
NM_152564.5(VPS13B):c.2127A>G (p.Glu709=)
|
rs1388916447
|
|
NM_152564.5(VPS13B):c.2142G>C (p.Val714=)
|
|
|
NM_152564.5(VPS13B):c.2148C>T (p.Ser716=)
|
rs2132624558
|
|
NM_152564.5(VPS13B):c.2157T>C (p.Thr719=)
|
|
|
NM_152564.5(VPS13B):c.2172C>T (p.Asn724=)
|
|
|
NM_152564.5(VPS13B):c.2178T>C (p.Leu726=)
|
|
|
NM_152564.5(VPS13B):c.2184T>C (p.Tyr728=)
|
rs757079471
|
|
NM_152564.5(VPS13B):c.2189A>G (p.Tyr730Cys)
|
|
|
NM_152564.5(VPS13B):c.2193A>G (p.Val731=)
|
|
|
NM_152564.5(VPS13B):c.219A>G (p.Lys73=)
|
rs1842838550
|
|
NM_152564.5(VPS13B):c.2208+10G>A
|
rs1386411395
|
|
NM_152564.5(VPS13B):c.2208+19_2208+21del
|
|
|
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.2209-8T>G
|
rs1426142075
|
|
NM_152564.5(VPS13B):c.2209-9T>G
|
|
|
NM_152564.5(VPS13B):c.2217T>C (p.Gly739=)
|
|
|
NM_152564.5(VPS13B):c.2253A>T (p.Gly751=)
|
rs1812239434
|
|
NM_152564.5(VPS13B):c.225T>C (p.Gly75=)
|
|
|
NM_152564.5(VPS13B):c.2265A>G (p.Leu755=)
|
rs2132663369
|
|
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>T (p.Phe763=)
|
|
|
NM_152564.5(VPS13B):c.2292C>T (p.Ser764=)
|
|
|
NM_152564.5(VPS13B):c.2295T>A (p.Thr765=)
|
|
|
NM_152564.5(VPS13B):c.2301T>A (p.Leu767=)
|
rs2132663494
|
|
NM_152564.5(VPS13B):c.2314C>T (p.Leu772=)
|
|
|
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.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.2334-4G>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.2355T>A (p.Ala785=)
|
|
|
NM_152564.5(VPS13B):c.2361T>A (p.Thr787=)
|
|
|
NM_152564.5(VPS13B):c.2367T>C (p.Gly789=)
|
|
|
NM_152564.5(VPS13B):c.2385T>C (p.Asn795=)
|
rs2132728136
|
|
NM_152564.5(VPS13B):c.2391A>T (p.Thr797=)
|
|
|
NM_152564.5(VPS13B):c.2400T>G (p.Ala800=)
|
rs2132728204
|
|
NM_152564.5(VPS13B):c.240A>G (p.Val80=)
|
|
|
NM_152564.5(VPS13B):c.2422T>C (p.Leu808=)
|
|
|
NM_152564.5(VPS13B):c.2427A>G (p.Gln809=)
|
|
|
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=)
|
rs540795071
|
|
NM_152564.5(VPS13B):c.2488T>C (p.Leu830=)
|
rs1449471227
|
|
NM_152564.5(VPS13B):c.2496T>C (p.Asn832=)
|
rs2132728537
|
|
NM_152564.5(VPS13B):c.2499A>G (p.Glu833=)
|
rs2132728546
|
|
NM_152564.5(VPS13B):c.2505C>T (p.Phe835=)
|
|
|
NM_152564.5(VPS13B):c.2508A>G (p.Leu836=)
|
|
|
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+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.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.2516-5A>G
|
rs756282496
|
|
NM_152564.5(VPS13B):c.2516-6T>C
|
rs2132994722
|
|
NM_152564.5(VPS13B):c.2523A>G (p.Lys841=)
|
|
|
NM_152564.5(VPS13B):c.2541A>G (p.Pro847=)
|
rs2132994812
|
|
NM_152564.5(VPS13B):c.2547T>G (p.Leu849=)
|
|
|
NM_152564.5(VPS13B):c.2571A>G (p.Glu857=)
|
|
|
NM_152564.5(VPS13B):c.2572T>C (p.Leu858=)
|
|
|
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.2592A>G (p.Ser864=)
|
|
|
NM_152564.5(VPS13B):c.2607C>G (p.Ala869=)
|
|
|
NM_152564.5(VPS13B):c.2607C>T (p.Ala869=)
|
rs2132995061
|
|
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.2640C>T (p.Ala880=)
|
|
|
NM_152564.5(VPS13B):c.2646C>T (p.Ala882=)
|
rs369124790
|
|
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+8C>T
|
rs2132995227
|
|
NM_152564.5(VPS13B):c.2651-17T>A
|
|
|
NM_152564.5(VPS13B):c.2651-18A>G
|
|
|
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.2679C>G (p.Pro893=)
|
|
|
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.2724G>A (p.Lys908=)
|
|
|
NM_152564.5(VPS13B):c.2730C>T (p.Leu910=)
|
rs2132998543
|
|
NM_152564.5(VPS13B):c.2740A>C (p.Arg914=)
|
|
|
NM_152564.5(VPS13B):c.2745G>A (p.Lys915=)
|
|
|
NM_152564.5(VPS13B):c.2763T>G (p.Ala921=)
|
|
|
NM_152564.5(VPS13B):c.276T>A (p.Leu92=)
|
|
|
NM_152564.5(VPS13B):c.2778C>T (p.Ala926=)
|
|
|
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.2802T>C (p.Tyr934=)
|
rs906591800
|
|
NM_152564.5(VPS13B):c.2811C>T (p.Tyr937=)
|
|
|
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+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.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.2829T>C (p.Ala943=)
|
|
|
NM_152564.5(VPS13B):c.2832A>G (p.Val944=)
|
|
|
NM_152564.5(VPS13B):c.285G>A (p.Gly95=)
|
rs2132222228
|
|
NM_152564.5(VPS13B):c.285G>C (p.Gly95=)
|
|
|
NM_152564.5(VPS13B):c.2877C>A (p.Ile959=)
|
rs371301713
|
|
NM_152564.5(VPS13B):c.2895C>T (p.Ile965=)
|
|
|
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+20A>C
|
rs2132222331
|
|
NM_152564.5(VPS13B):c.291+7A>C
|
rs571078874
|
|
NM_152564.5(VPS13B):c.291+8A>G
|
|
|
NM_152564.5(VPS13B):c.292-12A>T
|
|
|
NM_152564.5(VPS13B):c.292-18T>C
|
rs2132431309
|
|
NM_152564.5(VPS13B):c.2934+14A>C
|
|
|
NM_152564.5(VPS13B):c.2934+19A>T
|
|
|
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.2935-20T>C
|
|
|
NM_152564.5(VPS13B):c.2935-4C>A
|
rs207469601
|
|
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.2950G>C (p.Val984Leu)
|
|
|
NM_152564.5(VPS13B):c.2970T>C (p.Val990=)
|
|
|
NM_152564.5(VPS13B):c.2976A>G (p.Arg992=)
|
rs2133312565
|
|
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.2991G>A (p.Glu997=)
|
|
|
NM_152564.5(VPS13B):c.3000T>A (p.Ile1000=)
|
rs1465563233
|
|
NM_152564.5(VPS13B):c.3009C>A (p.Ala1003=)
|
|
|
NM_152564.5(VPS13B):c.3009C>T (p.Ala1003=)
|
|
|
NM_152564.5(VPS13B):c.3012C>T (p.Pro1004=)
|
rs199519352
|
|
NM_152564.5(VPS13B):c.3013T>C (p.Leu1005=)
|
rs1563704394
|
|
NM_152564.5(VPS13B):c.3015G>A (p.Leu1005=)
|
|
|
NM_152564.5(VPS13B):c.3021G>A (p.Lys1007=)
|
rs1043986535
|
|
NM_152564.5(VPS13B):c.3027A>G (p.Gln1009=)
|
rs1814454495
|
|
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.3060T>C (p.Pro1020=)
|
|
|
NM_152564.5(VPS13B):c.3072A>G (p.Lys1024=)
|
rs2133312842
|
|
NM_152564.5(VPS13B):c.3075G>C (p.Thr1025=)
|
|
|
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+9C>A
|
|
|
NM_152564.5(VPS13B):c.3083-11C>T
|
|
|
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.3099A>G (p.Ser1033=)
|
rs1480645575
|
|
NM_152564.5(VPS13B):c.309T>C (p.Cys103=)
|
rs2132431451
|
|
NM_152564.5(VPS13B):c.3108T>G (p.Val1036=)
|
|
|
NM_152564.5(VPS13B):c.3118T>C (p.Leu1040=)
|
|
|
NM_152564.5(VPS13B):c.3147T>C (p.Pro1049=)
|
rs2133412382
|
|
NM_152564.5(VPS13B):c.3168T>C (p.Phe1056=)
|
|
|
NM_152564.5(VPS13B):c.3177T>A (p.Ile1059=)
|
rs2133412452
|
|
NM_152564.5(VPS13B):c.3186T>C (p.Asn1062=)
|
|
|
NM_152564.5(VPS13B):c.3192G>A (p.Val1064=)
|
|
|
NM_152564.5(VPS13B):c.3205C>T (p.Leu1069=)
|
|
|
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.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.3219A>G (p.Val1073=)
|
rs1234904975
|
|
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.3237T>C (p.Phe1079=)
|
rs2133440561
|
|
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>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.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.3294A>C (p.Gly1098=)
|
|
|
NM_152564.5(VPS13B):c.3300A>T (p.Val1100=)
|
rs770402973
|
|
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.3327C>T (p.Ser1109=)
|
rs2133440777
|
|
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.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.3351T>C (p.Cys1117=)
|
|
|
NM_152564.5(VPS13B):c.3360A>G (p.Gln1120=)
|
|
|
NM_152564.5(VPS13B):c.3384C>T (p.His1128=)
|
|
|
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.3438T>A (p.Leu1146=)
|
|
|
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+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.3446-6T>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.3504A>G (p.Gly1168=)
|
rs2133510852
|
|
NM_152564.5(VPS13B):c.3516A>C (p.Thr1172=)
|
|
|
NM_152564.5(VPS13B):c.351A>G (p.Lys117=)
|
|
|
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.3561C>G (p.Val1187=)
|
|
|
NM_152564.5(VPS13B):c.3573A>G (p.Lys1191=)
|
|
|
NM_152564.5(VPS13B):c.3585G>A (p.Thr1195=)
|
|
|
NM_152564.5(VPS13B):c.3585G>T (p.Thr1195=)
|
rs749614140
|
|
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.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>C (p.Cys1206=)
|
rs386834081
|
|
NM_152564.5(VPS13B):c.3630C>T (p.Asp1210=)
|
|
|
NM_152564.5(VPS13B):c.3639A>G (p.Ser1213=)
|
|
|
NM_152564.5(VPS13B):c.3645G>A (p.Glu1215=)
|
rs751086826
|
|
NM_152564.5(VPS13B):c.3657T>C (p.Ser1219=)
|
|
|
NM_152564.5(VPS13B):c.3660T>C (p.Asn1220=)
|
rs2133511479
|
|
NM_152564.5(VPS13B):c.3663C>A (p.Pro1221=)
|
|
|
NM_152564.5(VPS13B):c.3663C>T (p.Pro1221=)
|
|
|
NM_152564.5(VPS13B):c.3666+13G>C
|
|
|
NM_152564.5(VPS13B):c.3666+13G>T
|
|
|
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.3667-16T>C
|
|
|
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.36C>T (p.Ser12=)
|
|
|
NM_152564.5(VPS13B):c.3705G>A (p.Lys1235=)
|
|
|
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.3738C>G (p.Leu1246=)
|
rs1465822174
|
|
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val)
|
rs562686924
|
|
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.3771A>G (p.Ala1257=)
|
rs2133556390
|
|
NM_152564.5(VPS13B):c.3774G>A (p.Gly1258=)
|
rs867311125
|
|
NM_152564.5(VPS13B):c.3774G>T (p.Gly1258=)
|
|
|
NM_152564.5(VPS13B):c.3789T>C (p.Ser1263=)
|
|
|
NM_152564.5(VPS13B):c.3801C>T (p.Ser1267=)
|
|
|
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.3822A>G (p.Pro1274=)
|
|
|
NM_152564.5(VPS13B):c.3828C>T (p.Thr1276=)
|
rs2133556534
|
|
NM_152564.5(VPS13B):c.3831C>T (p.Ser1277=)
|
rs1183777904
|
|
NM_152564.5(VPS13B):c.3852C>T (p.Asp1284=)
|
|
|
NM_152564.5(VPS13B):c.3858G>A (p.Gly1286=)
|
|
|
NM_152564.5(VPS13B):c.3861T>G (p.Thr1287=)
|
rs2133556617
|
|
NM_152564.5(VPS13B):c.3870+18dup
|
|
|
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.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.3903A>G (p.Pro1301=)
|
|
|
NM_152564.5(VPS13B):c.3909A>G (p.Ser1303=)
|
|
|
NM_152564.5(VPS13B):c.3960A>G (p.Gly1320=)
|
|
|
NM_152564.5(VPS13B):c.3972A>G (p.Leu1324=)
|
|
|
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.4023T>C (p.Asp1341=)
|
|
|
NM_152564.5(VPS13B):c.4026T>C (p.Pro1342=)
|
|
|
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.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.4056C>T (p.Val1352=)
|
|
|
NM_152564.5(VPS13B):c.405A>G (p.Leu135=)
|
rs2132431834
|
|
NM_152564.5(VPS13B):c.4065A>G (p.Leu1355=)
|
rs755818465
|
|
NM_152564.5(VPS13B):c.4077T>C (p.Ser1359=)
|
|
|
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.4113G>A (p.Val1371=)
|
rs769085208
|
|
NM_152564.5(VPS13B):c.4113G>T (p.Val1371=)
|
rs769085208
|
|
NM_152564.5(VPS13B):c.412+18C>A
|
|
|
NM_152564.5(VPS13B):c.412+20A>G
|
|
|
NM_152564.5(VPS13B):c.413-10T>C
|
rs897984303
|
|
NM_152564.5(VPS13B):c.413-11del
|
|
|
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.413-5T>C
|
rs1846839473
|
|
NM_152564.5(VPS13B):c.413-9A>G
|
rs2132453724
|
|
NM_152564.5(VPS13B):c.4149T>C (p.Tyr1383=)
|
|
|
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+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.420G>A (p.Val140=)
|
rs1379154568
|
|
NM_152564.5(VPS13B):c.420G>T (p.Val140=)
|
rs1379154568
|
|
NM_152564.5(VPS13B):c.4224+548T>G
|
|
|
NM_152564.5(VPS13B):c.4224+556A>G
|
rs1554824890
|
|
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.4225-9T>C
|
|
|
NM_152564.5(VPS13B):c.4230T>C (p.Thr1410=)
|
|
|
NM_152564.5(VPS13B):c.423G>A (p.Gln141=)
|
|
|
NM_152564.5(VPS13B):c.4245T>C (p.Asp1415=)
|
|
|
NM_152564.5(VPS13B):c.4248C>T (p.Gly1416=)
|
|
|
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.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.4305T>C (p.Asn1435=)
|
rs2133637292
|
|
NM_152564.5(VPS13B):c.4317G>A (p.Lys1439=)
|
|
|
NM_152564.5(VPS13B):c.4320A>G (p.Leu1440=)
|
rs2133637329
|
|
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.4359T>C (p.Ser1453=)
|
rs1187402533
|
|
NM_152564.5(VPS13B):c.4362A>G (p.Glu1454=)
|
rs775013418
|
|
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.4389T>C (p.Phe1463=)
|
rs766779948
|
|
NM_152564.5(VPS13B):c.438A>G (p.Arg146=)
|
|
|
NM_152564.5(VPS13B):c.4401T>C (p.Ile1467=)
|
|
|
NM_152564.5(VPS13B):c.4413A>G (p.Ala1471=)
|
|
|
NM_152564.5(VPS13B):c.4434T>C (p.Leu1478=)
|
|
|
NM_152564.5(VPS13B):c.4440T>C (p.Phe1480=)
|
|
|
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.4485A>G (p.Pro1495=)
|
|
|
NM_152564.5(VPS13B):c.4509A>G (p.Lys1503=)
|
|
|
NM_152564.5(VPS13B):c.4512T>C (p.Ser1504=)
|
|
|
NM_152564.5(VPS13B):c.4518T>G (p.Gly1506=)
|
|
|
NM_152564.5(VPS13B):c.4528A>C (p.Arg1510=)
|
|
|
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.4536T>C (p.His1512=)
|
rs2133637886
|
|
NM_152564.5(VPS13B):c.4539A>G (p.Thr1513=)
|
|
|
NM_152564.5(VPS13B):c.4540C>T (p.Leu1514=)
|
|
|
NM_152564.5(VPS13B):c.4548C>A (p.Ser1516=)
|
rs1821781006
|
|
NM_152564.5(VPS13B):c.4548C>T (p.Ser1516=)
|
|
|
NM_152564.5(VPS13B):c.4551C>T (p.Arg1517=)
|
rs150376603
|
|
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.4620G>A (p.Gln1540=)
|
|
|
NM_152564.5(VPS13B):c.4633+13G>T
|
rs771515364
|
|
NM_152564.5(VPS13B):c.4633+14A>T
|
|
|
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.4634-9T>C
|
rs2133668059
|
|
NM_152564.5(VPS13B):c.4641G>A (p.Gln1547=)
|
|
|
NM_152564.5(VPS13B):c.4647A>G (p.Ala1549=)
|
|
|
NM_152564.5(VPS13B):c.4647A>T (p.Ala1549=)
|
rs1822351966
|
|
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.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.4716C>G (p.Gly1572=)
|
|
|
NM_152564.5(VPS13B):c.4728T>C (p.Leu1576=)
|
rs1158360713
|
|
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+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.4752C>T (p.Ala1584=)
|
|
|
NM_152564.5(VPS13B):c.4755G>A (p.Leu1585=)
|
|
|
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.4782A>T (p.Gly1594=)
|
rs2133764676
|
|
NM_152564.5(VPS13B):c.4791C>A (p.Ile1597=)
|
|
|
NM_152564.5(VPS13B):c.4806C>T (p.Tyr1602=)
|
rs1355209169
|
|
NM_152564.5(VPS13B):c.480A>G (p.Leu160=)
|
|
|
NM_152564.5(VPS13B):c.4812A>C (p.Ile1604=)
|
rs1824574633
|
|
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.4836T>C (p.Gly1612=)
|
rs2133764786
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
NM_152564.5(VPS13B):c.4866G>A (p.Glu1622=)
|
rs779914034
|
|
NM_152564.5(VPS13B):c.4872A>G (p.Glu1624=)
|
|
|
NM_152564.5(VPS13B):c.4875T>C (p.Ser1625=)
|
|
|
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.4887G>A (p.Gly1629=)
|
rs747778744
|
|
NM_152564.5(VPS13B):c.4887G>T (p.Gly1629=)
|
rs747778744
|
|
NM_152564.5(VPS13B):c.4893A>G (p.Val1631=)
|
|
|
NM_152564.5(VPS13B):c.4926C>G (p.Ala1642=)
|
|
|
NM_152564.5(VPS13B):c.4929T>C (p.Leu1643=)
|
|
|
NM_152564.5(VPS13B):c.4944C>T (p.Ala1648=)
|
|
|
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.4950-10_4950-9insG
|
|
|
NM_152564.5(VPS13B):c.4950-20T>C
|
|
|
NM_152564.5(VPS13B):c.4950-29G>A
|
|
|
NM_152564.5(VPS13B):c.4956G>T (p.Arg1652=)
|
|
|
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.4968A>G (p.Glu1656=)
|
rs2133808425
|
|
NM_152564.5(VPS13B):c.4974A>G (p.Arg1658=)
|
rs2133808450
|
|
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.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.5025A>G (p.Ala1675=)
|
rs2133808577
|
|
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.5052T>C (p.Val1684=)
|
|
|
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+20T>A
|
|
|
NM_152564.5(VPS13B):c.5076+20T>C
|
|
|
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.5077-6C>G
|
|
|
NM_152564.5(VPS13B):c.5077-6C>T
|
|
|
NM_152564.5(VPS13B):c.507T>C (p.Leu169=)
|
|
|
NM_152564.5(VPS13B):c.5085A>G (p.Leu1695=)
|
|
|
NM_152564.5(VPS13B):c.5094C>A (p.Gly1698=)
|
rs2133811965
|
|
NM_152564.5(VPS13B):c.5106A>G (p.Glu1702=)
|
|
|
NM_152564.5(VPS13B):c.5112T>C (p.Asn1704=)
|
|
|
NM_152564.5(VPS13B):c.5124C>T (p.Asn1708=)
|
|
|
NM_152564.5(VPS13B):c.5139A>C (p.Leu1713=)
|
|
|
NM_152564.5(VPS13B):c.5145G>A (p.Val1715=)
|
|
|
NM_152564.5(VPS13B):c.5151A>G (p.Gln1717=)
|
|
|
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.5160C>G (p.Leu1720=)
|
|
|
NM_152564.5(VPS13B):c.516T>C (p.Asn172=)
|
|
|
NM_152564.5(VPS13B):c.5184T>C (p.Asn1728=)
|
rs2133812127
|
|
NM_152564.5(VPS13B):c.5190T>C (p.Thr1730=)
|
rs1454613781
|
|
NM_152564.5(VPS13B):c.5199A>G (p.Glu1733=)
|
|
|
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.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.5221-4A>G
|
rs2133931355
|
|
NM_152564.5(VPS13B):c.5221-6T>C
|
rs1829377717
|
|
NM_152564.5(VPS13B):c.5223C>T (p.Ile1741=)
|
|
|
NM_152564.5(VPS13B):c.5232A>G (p.Gln1744=)
|
|
|
NM_152564.5(VPS13B):c.5235A>G (p.Glu1745=)
|
|
|
NM_152564.5(VPS13B):c.5244A>G (p.Lys1748=)
|
|
|
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.5289C>T (p.Tyr1763=)
|
|
|
NM_152564.5(VPS13B):c.5313T>A (p.Ile1771=)
|
|
|
NM_152564.5(VPS13B):c.5328T>C (p.Val1776=)
|
|
|
NM_152564.5(VPS13B):c.5331A>G (p.Lys1777=)
|
rs2133931540
|
|
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.5385C>G (p.Ala1795=)
|
rs371961319
|
|
NM_152564.5(VPS13B):c.5418T>C (p.Asn1806=)
|
rs2133931722
|
|
NM_152564.5(VPS13B):c.5430T>A (p.Ile1810=)
|
|
|
NM_152564.5(VPS13B):c.5433C>T (p.Pro1811=)
|
rs2133931744
|
|
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.5475C>T (p.Thr1825=)
|
|
|
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.5526T>C (p.Asn1842=)
|
|
|
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val)
|
rs141211386
|
|
NM_152564.5(VPS13B):c.552A>G (p.Leu184=)
|
|
|
NM_152564.5(VPS13B):c.5547A>G (p.Ser1849=)
|
rs1379595802
|
|
NM_152564.5(VPS13B):c.5559A>G (p.Pro1853=)
|
|
|
NM_152564.5(VPS13B):c.5562A>G (p.Glu1854=)
|
|
|
NM_152564.5(VPS13B):c.5580T>G (p.Ala1860=)
|
|
|
NM_152564.5(VPS13B):c.5583G>A (p.Lys1861=)
|
|
|
NM_152564.5(VPS13B):c.5589C>T (p.Asn1863=)
|
|
|
NM_152564.5(VPS13B):c.558T>C (p.Asp186=)
|
rs2132454209
|
|
NM_152564.5(VPS13B):c.5595A>G (p.Ala1865=)
|
|
|
NM_152564.5(VPS13B):c.5598T>C (p.Cys1866=)
|
rs2133932018
|
|
NM_152564.5(VPS13B):c.5604C>T (p.Ser1868=)
|
|
|
NM_152564.5(VPS13B):c.5607G>T (p.Thr1869=)
|
rs368851580
|
|
NM_152564.5(VPS13B):c.5616A>G (p.Ala1872=)
|
|
|
NM_152564.5(VPS13B):c.5637C>T (p.Ser1879=)
|
|
|
NM_152564.5(VPS13B):c.5649T>C (p.Pro1883=)
|
|
|
NM_152564.5(VPS13B):c.5661A>G (p.Lys1887=)
|
|
|
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.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.5700A>T (p.Thr1900=)
|
|
|
NM_152564.5(VPS13B):c.5712T>C (p.Ala1904=)
|
|
|
NM_152564.5(VPS13B):c.5721A>G (p.Ala1907=)
|
|
|
NM_152564.5(VPS13B):c.5733T>G (p.Thr1911=)
|
|
|
NM_152564.5(VPS13B):c.5736T>C (p.Ile1912=)
|
|
|
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln)
|
rs150272676
|
|
NM_152564.5(VPS13B):c.5742G>A (p.Arg1914=)
|
|
|
NM_152564.5(VPS13B):c.5763T>A (p.Thr1921=)
|
|
|
NM_152564.5(VPS13B):c.5763T>C (p.Thr1921=)
|
|
|
NM_152564.5(VPS13B):c.5770T>C (p.Leu1924=)
|
|
|
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+20A>G
|
|
|
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.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.581-4T>G
|
|
|
NM_152564.5(VPS13B):c.5814C>A (p.Ser1938=)
|
|
|
NM_152564.5(VPS13B):c.5815T>C (p.Leu1939=)
|
|
|
NM_152564.5(VPS13B):c.5820T>A (p.Leu1940=)
|
|
|
NM_152564.5(VPS13B):c.5826T>C (p.Ser1942=)
|
|
|
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.5886G>A (p.Val1962=)
|
|
|
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+7A>C
|
|
|
NM_152564.5(VPS13B):c.5908+8C>A
|
|
|
NM_152564.5(VPS13B):c.5909-16A>T
|
|
|
NM_152564.5(VPS13B):c.5909-4T>G
|
|
|
NM_152564.5(VPS13B):c.5910T>C (p.Asp1970=)
|
rs2129763250
|
|
NM_152564.5(VPS13B):c.5913T>C (p.Pro1971=)
|
|
|
NM_152564.5(VPS13B):c.5919G>A (p.Lys1973=)
|
rs1588598785
|
|
NM_152564.5(VPS13B):c.5922T>C (p.Thr1974=)
|
|
|
NM_152564.5(VPS13B):c.5925G>A (p.Leu1975=)
|
rs2129763425
|
|
NM_152564.5(VPS13B):c.5958A>G (p.Leu1986=)
|
rs2129763770
|
|
NM_152564.5(VPS13B):c.5967G>A (p.Val1989=)
|
rs2129763862
|
|
NM_152564.5(VPS13B):c.5994T>C (p.Gly1998=)
|
rs2129764118
|
|
NM_152564.5(VPS13B):c.5997T>C (p.Ile1999=)
|
|
|
NM_152564.5(VPS13B):c.6003T>C (p.Pro2001=)
|
|
|
NM_152564.5(VPS13B):c.6009T>C (p.Phe2003=)
|
rs1830220185
|
|
NM_152564.5(VPS13B):c.6015A>G (p.Thr2005=)
|
|
|
NM_152564.5(VPS13B):c.6018A>G (p.Leu2006=)
|
|
|
NM_152564.5(VPS13B):c.6030C>T (p.Asp2010=)
|
rs2129764617
|
|
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+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.6047-20T>A
|
|
|
NM_152564.5(VPS13B):c.6047-5T>C
|
|
|
NM_152564.5(VPS13B):c.6047-5T>G
|
|
|
NM_152564.5(VPS13B):c.6047-6C>G
|
rs1386160206
|
|
NM_152564.5(VPS13B):c.6047-9C>T
|
|
|
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.6087C>T (p.Asn2029=)
|
rs746122729
|
|
NM_152564.5(VPS13B):c.6103C>T (p.Leu2035=)
|
rs146073786
|
|
NM_152564.5(VPS13B):c.6132G>A (p.Lys2044=)
|
rs1832185851
|
|
NM_152564.5(VPS13B):c.6144A>G (p.Ala2048=)
|
|
|
NM_152564.5(VPS13B):c.6156A>G (p.Ala2052=)
|
|
|
NM_152564.5(VPS13B):c.6165A>G (p.Glu2055=)
|
|
|
NM_152564.5(VPS13B):c.6171T>C (p.Thr2057=)
|
rs1832187710
|
|
NM_152564.5(VPS13B):c.6186C>T (p.Asn2062=)
|
rs1832188570
|
|
NM_152564.5(VPS13B):c.6213A>G (p.Pro2071=)
|
|
|
NM_152564.5(VPS13B):c.6225T>C (p.Tyr2075=)
|
|
|
NM_152564.5(VPS13B):c.6249C>T (p.Pro2083=)
|
|
|
NM_152564.5(VPS13B):c.624T>C (p.Cys208=)
|
rs2132481707
|
|
NM_152564.5(VPS13B):c.6261T>C (p.Gly2087=)
|
rs2130180519
|
|
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.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.6330T>C (p.Ser2110=)
|
|
|
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.6432C>A (p.Val2144=)
|
rs1399379580
|
|
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.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.6455-4dup
|
rs398124337
|
|
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.6483C>A (p.Leu2161=)
|
rs2130316478
|
|
NM_152564.5(VPS13B):c.6483C>T (p.Leu2161=)
|
|
|
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.6543A>T (p.Gly2181=)
|
|
|
NM_152564.5(VPS13B):c.6546A>G (p.Pro2182=)
|
rs374153644
|
|
NM_152564.5(VPS13B):c.6552T>C (p.Cys2184=)
|
|
|
NM_152564.5(VPS13B):c.6564T>C (p.Asn2188=)
|
rs746691768
|
|
NM_152564.5(VPS13B):c.6565C>T (p.Leu2189=)
|
|
|
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.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.6636C>T (p.Asp2212=)
|
rs750393129
|
|
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.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+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.6658-15T>A
|
|
|
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=)
|
rs2130339813
|
|
NM_152564.5(VPS13B):c.6684T>C (p.Asn2228=)
|
|
|
NM_152564.5(VPS13B):c.6693T>G (p.Val2231=)
|
rs1833088212
|
|
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.6747A>C (p.Val2249=)
|
|
|
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.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.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.6834G>A (p.Arg2278=)
|
rs1833091810
|
|
NM_152564.5(VPS13B):c.6837A>T (p.Thr2279=)
|
|
|
NM_152564.5(VPS13B):c.684A>G (p.Leu228=)
|
|
|
NM_152564.5(VPS13B):c.6852T>C (p.Tyr2284=)
|
rs2130340773
|
|
NM_152564.5(VPS13B):c.6861T>C (p.Asp2287=)
|
|
|
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+7A>G
|
|
|
NM_152564.5(VPS13B):c.6866-10T>C
|
rs760306334
|
|
NM_152564.5(VPS13B):c.6866-12T>C
|
|
|
NM_152564.5(VPS13B):c.6866-7T>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.6882T>C (p.Pro2294=)
|
rs2130342974
|
|
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.6915T>C (p.Thr2305=)
|
rs1833105356
|
|
NM_152564.5(VPS13B):c.6921T>C (p.Asp2307=)
|
rs2130343166
|
|
NM_152564.5(VPS13B):c.6927A>G (p.Pro2309=)
|
|
|
NM_152564.5(VPS13B):c.6951A>G (p.Pro2317=)
|
rs1175046825
|
|
NM_152564.5(VPS13B):c.6957T>C (p.Pro2319=)
|
|
|
NM_152564.5(VPS13B):c.6960A>G (p.Arg2320=)
|
rs1238316814
|
|
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.6987T>C (p.Pro2329=)
|
rs2130343654
|
|
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.7032C>T (p.Asp2344=)
|
rs2130343837
|
|
NM_152564.5(VPS13B):c.7041T>C (p.Asp2347=)
|
rs1253879066
|
|
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+9T>C
|
|
|
NM_152564.5(VPS13B):c.7051-11T>C
|
|
|
NM_152564.5(VPS13B):c.7051-13T>A
|
|
|
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.7071C>T (p.Tyr2357=)
|
|
|
NM_152564.5(VPS13B):c.7086G>A (p.Gln2362=)
|
|
|
NM_152564.5(VPS13B):c.7089G>A (p.Lys2363=)
|
|
|
NM_152564.5(VPS13B):c.7101A>G (p.Ala2367=)
|
|
|
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.7137T>C (p.Cys2379=)
|
|
|
NM_152564.5(VPS13B):c.7146G>A (p.Gln2382=)
|
rs542396703
|
|
NM_152564.5(VPS13B):c.7173C>T (p.Asp2391=)
|
|
|
NM_152564.5(VPS13B):c.7176G>A (p.Gln2392=)
|
|
|
NM_152564.5(VPS13B):c.7179G>A (p.Lys2393=)
|
rs2130621684
|
|
NM_152564.5(VPS13B):c.7185A>G (p.Leu2395=)
|
|
|
NM_152564.5(VPS13B):c.7200T>G (p.Leu2400=)
|
|
|
NM_152564.5(VPS13B):c.7206A>G (p.Arg2402=)
|
rs2130621835
|
|
NM_152564.5(VPS13B):c.7218C>T (p.Asn2406=)
|
rs2130621889
|
|
NM_152564.5(VPS13B):c.7227A>G (p.Gln2409=)
|
rs2130621938
|
|
NM_152564.5(VPS13B):c.7239T>C (p.Asp2413=)
|
|
|
NM_152564.5(VPS13B):c.723A>C (p.Thr241=)
|
rs778049327
|
|
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+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.7248-4A>G
|
rs2130667870
|
|
NM_152564.5(VPS13B):c.7248-6C>T
|
|
|
NM_152564.5(VPS13B):c.7248-9T>G
|
|
|
NM_152564.5(VPS13B):c.7263T>C (p.Ser2421=)
|
|
|
NM_152564.5(VPS13B):c.726T>C (p.Tyr242=)
|
|
|
NM_152564.5(VPS13B):c.7293G>A (p.Val2431=)
|
|
|
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.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.7344A>G (p.Pro2448=)
|
|
|
NM_152564.5(VPS13B):c.7344A>T (p.Pro2448=)
|
|
|
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.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.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.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+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+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.7437A>G (p.Pro2479=)
|
|
|
NM_152564.5(VPS13B):c.7446A>G (p.Leu2482=)
|
|
|
NM_152564.5(VPS13B):c.7449G>A (p.Gln2483=)
|
|
|
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=)
|
rs751190453
|
|
NM_152564.5(VPS13B):c.7464C>T (p.Asp2488=)
|
rs990040393
|
|
NM_152564.5(VPS13B):c.7491C>T (p.Tyr2497=)
|
|
|
NM_152564.5(VPS13B):c.7503C>T (p.Ser2501=)
|
rs2130678510
|
|
NM_152564.5(VPS13B):c.7509A>G (p.Arg2503=)
|
rs2130678548
|
|
NM_152564.5(VPS13B):c.7518C>T (p.His2506=)
|
|
|
NM_152564.5(VPS13B):c.7527T>A (p.Leu2509=)
|
|
|
NM_152564.5(VPS13B):c.7533G>A (p.Gln2511=)
|
|
|
NM_152564.5(VPS13B):c.7545T>A (p.Gly2515=)
|
rs2130678759
|
|
NM_152564.5(VPS13B):c.7551C>A (p.Val2517=)
|
rs1811868664
|
|
NM_152564.5(VPS13B):c.7554T>C (p.Cys2518=)
|
|
|
NM_152564.5(VPS13B):c.7569C>T (p.Phe2523=)
|
rs776907826
|
|
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.762+11C>T
|
|
|
NM_152564.5(VPS13B):c.762+11_762+12insA
|
|
|
NM_152564.5(VPS13B):c.762+5_762+6dup
|
rs2132482179
|
|
NM_152564.5(VPS13B):c.762+7A>G
|
|
|
NM_152564.5(VPS13B):c.7629G>T (p.Val2543=)
|
|
|
NM_152564.5(VPS13B):c.763-18G>A
|
|
|
NM_152564.5(VPS13B):c.763-20A>G
|
|
|
NM_152564.5(VPS13B):c.763-5T>C
|
rs1847622951
|
|
NM_152564.5(VPS13B):c.7650G>A (p.Gly2550=)
|
|
|
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.7677G>A (p.Val2559=)
|
rs373165767
|
|
NM_152564.5(VPS13B):c.7683G>A (p.Lys2561=)
|
|
|
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.7692C>T (p.Asp2564=)
|
|
|
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.7740A>C (p.Val2580=)
|
rs1281733005
|
|
NM_152564.5(VPS13B):c.7749A>G (p.Ser2583=)
|
|
|
NM_152564.5(VPS13B):c.7750C>T (p.Leu2584=)
|
|
|
NM_152564.5(VPS13B):c.7779+8C>T
|
|
|
NM_152564.5(VPS13B):c.7779+9A>G
|
|
|
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.7821T>C (p.Phe2607=)
|
rs1229910112
|
|
NM_152564.5(VPS13B):c.7833T>C (p.Asn2611=)
|
|
|
NM_152564.5(VPS13B):c.7845G>A (p.Glu2615=)
|
rs2130702451
|
|
NM_152564.5(VPS13B):c.7849C>T (p.Leu2617=)
|
|
|
NM_152564.5(VPS13B):c.7852C>A (p.Arg2618=)
|
rs779101063
|
|
NM_152564.5(VPS13B):c.7854G>A (p.Arg2618=)
|
|
|
NM_152564.5(VPS13B):c.7854G>T (p.Arg2618=)
|
|
|
NM_152564.5(VPS13B):c.7860C>A (p.Gly2620=)
|
|
|
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.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.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+20_7941+42del
|
rs769286340
|
|
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.7942-8T>G
|
|
|
NM_152564.5(VPS13B):c.7953C>A (p.Ile2651=)
|
rs2130785637
|
|
NM_152564.5(VPS13B):c.7965T>A (p.Gly2655=)
|
rs758430817
|
|
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.7986A>G (p.Ser2662=)
|
rs2130785744
|
|
NM_152564.5(VPS13B):c.7989G>A (p.Glu2663=)
|
|
|
NM_152564.5(VPS13B):c.8001G>A (p.Val2667=)
|
|
|
NM_152564.5(VPS13B):c.8022T>C (p.Ile2674=)
|
|
|
NM_152564.5(VPS13B):c.8040G>A (p.Arg2680=)
|
|
|
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.8070T>C (p.Val2690=)
|
rs2130785985
|
|
NM_152564.5(VPS13B):c.8073G>A (p.Gln2691=)
|
rs2130785995
|
|
NM_152564.5(VPS13B):c.807A>G (p.Gln269=)
|
rs775213704
|
|
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.8098-7C>T
|
|
|
NM_152564.5(VPS13B):c.8098-8T>A
|
|
|
NM_152564.5(VPS13B):c.8098-9G>A
|
|
|
NM_152564.5(VPS13B):c.8106C>T (p.Ile2702=)
|
|
|
NM_152564.5(VPS13B):c.810A>G (p.Gln270=)
|
rs1169945660
|
|
NM_152564.5(VPS13B):c.8133C>T (p.Tyr2711=)
|
|
|
NM_152564.5(VPS13B):c.8136G>A (p.Leu2712=)
|
|
|
NM_152564.5(VPS13B):c.8160C>T (p.Val2720=)
|
rs373348061
|
|
NM_152564.5(VPS13B):c.816T>C (p.Pro272=)
|
|
|
NM_152564.5(VPS13B):c.8205A>G (p.Glu2735=)
|
|
|
NM_152564.5(VPS13B):c.8229A>G (p.Lys2743=)
|
rs2130810840
|
|
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.8262T>C (p.Asn2754=)
|
|
|
NM_152564.5(VPS13B):c.8268G>A (p.Leu2756=)
|
|
|
NM_152564.5(VPS13B):c.8268G>C (p.Leu2756=)
|
|
|
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.8292A>G (p.Lys2764=)
|
rs2130810986
|
|
NM_152564.5(VPS13B):c.8298T>C (p.Asp2766=)
|
rs1563488890
|
|
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.8337C>A (p.Ala2779=)
|
rs1177301291
|
|
NM_152564.5(VPS13B):c.8346C>T (p.Tyr2782=)
|
|
|
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+20C>G
|
|
|
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.8367A>G (p.Pro2789=)
|
|
|
NM_152564.5(VPS13B):c.8382C>G (p.Ser2794=)
|
rs1350773456
|
|
NM_152564.5(VPS13B):c.8394C>A (p.Val2798=)
|
|
|
NM_152564.5(VPS13B):c.840T>G (p.Leu280=)
|
|
|
NM_152564.5(VPS13B):c.8421C>G (p.Pro2807=)
|
rs1252949783
|
|
NM_152564.5(VPS13B):c.8436A>G (p.Gln2812=)
|
|
|
NM_152564.5(VPS13B):c.8439A>G (p.Gln2813=)
|
rs773210498
|
|
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+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.8446-20C>A
|
|
|
NM_152564.5(VPS13B):c.8446-6T>G
|
|
|
NM_152564.5(VPS13B):c.8460T>G (p.Pro2820=)
|
|
|
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.849T>C (p.Ala283=)
|
rs1563549019
|
|
NM_152564.5(VPS13B):c.8521C>T (p.Leu2841=)
|
rs2130813974
|
|
NM_152564.5(VPS13B):c.8527T>C (p.Leu2843=)
|
rs778838868
|
|
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.855C>T (p.Tyr285=)
|
rs1256482530
|
|
NM_152564.5(VPS13B):c.8574G>A (p.Leu2858=)
|
|
|
NM_152564.5(VPS13B):c.8592C>T (p.Asp2864=)
|
|
|
NM_152564.5(VPS13B):c.8595T>G (p.Leu2865=)
|
|
|
NM_152564.5(VPS13B):c.8604C>T (p.His2868=)
|
rs2130814192
|
|
NM_152564.5(VPS13B):c.8610A>G (p.Thr2870=)
|
rs2130814206
|
|
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.8622-10A>C
|
|
|
NM_152564.5(VPS13B):c.8622-11C>A
|
|
|
NM_152564.5(VPS13B):c.8622-6T>G
|
|
|
NM_152564.5(VPS13B):c.8625A>G (p.Glu2875=)
|
rs776161364
|
|
NM_152564.5(VPS13B):c.8631T>C (p.Tyr2877=)
|
rs2130815899
|
|
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.8655C>T (p.Pro2885=)
|
|
|
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.8694A>T (p.Val2898=)
|
|
|
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.8718G>A (p.Gln2906=)
|
|
|
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>T (p.Phe2911=)
|
|
|
NM_152564.5(VPS13B):c.8739G>T (p.Gly2913=)
|
rs797046097
|
|
NM_152564.5(VPS13B):c.8745A>G (p.Glu2915=)
|
|
|
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val)
|
rs779095081
|
|
NM_152564.5(VPS13B):c.8751G>T (p.Ser2917=)
|
rs775883776
|
|
NM_152564.5(VPS13B):c.8757A>G (p.Gln2919=)
|
|
|
NM_152564.5(VPS13B):c.8784T>C (p.Asp2928=)
|
|
|
NM_152564.5(VPS13B):c.8787T>C (p.Ser2929=)
|
rs1588745102
|
|
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+7T>C
|
|
|
NM_152564.5(VPS13B):c.8793-16G>T
|
|
|
NM_152564.5(VPS13B):c.8793-19G>A
|
|
|
NM_152564.5(VPS13B):c.8793-6del
|
rs756641209
|
|
NM_152564.5(VPS13B):c.8793-8T>C
|
rs1563490351
|
|
NM_152564.5(VPS13B):c.8796T>C (p.Asn2932=)
|
rs1814270562
|
|
NM_152564.5(VPS13B):c.87A>G (p.Ser29=)
|
rs1190769527
|
|
NM_152564.5(VPS13B):c.8827C>A (p.Arg2943=)
|
rs755996065
|
|
NM_152564.5(VPS13B):c.882A>G (p.Glu294=)
|
|
|
NM_152564.5(VPS13B):c.8836C>T (p.Leu2946=)
|
rs753585905
|
|
NM_152564.5(VPS13B):c.8850G>A (p.Lys2950=)
|
rs2130817562
|
|
NM_152564.5(VPS13B):c.8853A>G (p.Pro2951=)
|
|
|
NM_152564.5(VPS13B):c.8853A>T (p.Pro2951=)
|
|
|
NM_152564.5(VPS13B):c.8868G>A (p.Leu2956=)
|
|
|
NM_152564.5(VPS13B):c.8871G>A (p.Leu2957=)
|
|
|
NM_152564.5(VPS13B):c.8883G>A (p.Leu2961=)
|
|
|
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.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.8955G>A (p.Gln2985=)
|
|
|
NM_152564.5(VPS13B):c.8961T>G (p.Pro2987=)
|
rs2130817807
|
|
NM_152564.5(VPS13B):c.8964T>C (p.Ala2988=)
|
|
|
NM_152564.5(VPS13B):c.8994+10del
|
|
|
NM_152564.5(VPS13B):c.8994+14T>C
|
|
|
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.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.8995-20T>A
|
|
|
NM_152564.5(VPS13B):c.8995-20T>C
|
|
|
NM_152564.5(VPS13B):c.8995-4C>T
|
rs2130821868
|
|
NM_152564.5(VPS13B):c.8997A>G (p.Glu2999=)
|
rs2130821884
|
|
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.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.9063G>C (p.Leu3021=)
|
|
|
NM_152564.5(VPS13B):c.9075G>A (p.Leu3025=)
|
|
|
NM_152564.5(VPS13B):c.9105T>C (p.Asn3035=)
|
|
|
NM_152564.5(VPS13B):c.9117G>A (p.Val3039=)
|
|
|
NM_152564.5(VPS13B):c.9147T>C (p.Thr3049=)
|
rs2130822258
|
|
NM_152564.5(VPS13B):c.9153A>T (p.Ile3051=)
|
|
|
NM_152564.5(VPS13B):c.9183+15T>C
|
|
|
NM_152564.5(VPS13B):c.9183+20G>T
|
|
|
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.9184-9A>G
|
rs2130828655
|
|
NM_152564.5(VPS13B):c.9184-9A>T
|
|
|
NM_152564.5(VPS13B):c.9184-9_9184-5del
|
|
|
NM_152564.5(VPS13B):c.918T>C (p.Asp306=)
|
rs2132498147
|
|
NM_152564.5(VPS13B):c.9204C>T (p.Ser3068=)
|
|
|
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.9255A>G (p.Thr3085=)
|
rs2130828848
|
|
NM_152564.5(VPS13B):c.9261C>T (p.Ile3087=)
|
|
|
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.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.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.9318T>C (p.His3106=)
|
rs1814523122
|
|
NM_152564.5(VPS13B):c.9327G>A (p.Lys3109=)
|
|
|
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+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.9331-2_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.9331-9T>G
|
|
|
NM_152564.5(VPS13B):c.9333T>C (p.Tyr3111=)
|
|
|
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs)
|
rs754443525
|
|
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.9354T>A (p.Ala3118=)
|
|
|
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+7T>C
|
|
|
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.938-9A>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.939T>C (p.Gly313=)
|
rs2132515681
|
|
NM_152564.5(VPS13B):c.9405C>A (p.Ser3135=)
|
rs2130858063
|
|
NM_152564.5(VPS13B):c.9408T>C (p.Leu3136=)
|
|
|
NM_152564.5(VPS13B):c.9411T>G (p.Pro3137=)
|
rs2130858097
|
|
NM_152564.5(VPS13B):c.9429T>G (p.Pro3143=)
|
rs2130858135
|
|
NM_152564.5(VPS13B):c.9444A>G (p.Ser3148=)
|
rs1419669701
|
|
NM_152564.5(VPS13B):c.9492T>G (p.Ser3164=)
|
rs36074608
|
|
NM_152564.5(VPS13B):c.9498C>G (p.Ala3166=)
|
|
|
NM_152564.5(VPS13B):c.9498C>T (p.Ala3166=)
|
|
|
NM_152564.5(VPS13B):c.9501A>G (p.Pro3167=)
|
rs1448281466
|
|
NM_152564.5(VPS13B):c.9504T>C (p.Gly3168=)
|
|
|
NM_152564.5(VPS13B):c.9513C>T (p.Ser3171=)
|
|
|
NM_152564.5(VPS13B):c.9529C>T (p.Leu3177=)
|
|
|
NM_152564.5(VPS13B):c.9558C>T (p.Pro3186=)
|
|
|
NM_152564.5(VPS13B):c.9567T>C (p.Ser3189=)
|
rs2130858392
|
|
NM_152564.5(VPS13B):c.9579C>T (p.Pro3193=)
|
rs2130858423
|
|
NM_152564.5(VPS13B):c.9585G>T (p.Gly3195=)
|
|
|
NM_152564.5(VPS13B):c.9594G>A (p.Arg3198=)
|
rs2130858464
|
|
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+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.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.9633T>C (p.Tyr3211=)
|
rs980028099
|
|
NM_152564.5(VPS13B):c.9675C>T (p.Asp3225=)
|
rs2130865492
|
|
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.9703A>C (p.Arg3235=)
|
|
|
NM_152564.5(VPS13B):c.9705A>G (p.Arg3235=)
|
|
|
NM_152564.5(VPS13B):c.9708T>C (p.Cys3236=)
|
|
|
NM_152564.5(VPS13B):c.9723T>C (p.Leu3241=)
|
|
|
NM_152564.5(VPS13B):c.9735C>T (p.Asn3245=)
|
rs766177887
|
|
NM_152564.5(VPS13B):c.9742+13C>G
|
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+8T>A
|
rs2130865683
|
|
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.9743-4T>G
|
rs1450351706
|
|
NM_152564.5(VPS13B):c.9743-8A>C
|
|
|
NM_152564.5(VPS13B):c.9743-9A>T
|
rs2130866268
|
|
NM_152564.5(VPS13B):c.9753G>A (p.Lys3251=)
|
|
|
NM_152564.5(VPS13B):c.975T>G (p.Pro325=)
|
rs1554625544
|
|
NM_152564.5(VPS13B):c.9765T>C (p.Tyr3255=)
|
rs1203586505
|
|
NM_152564.5(VPS13B):c.9783C>A (p.Ser3261=)
|
|
|
NM_152564.5(VPS13B):c.9792A>G (p.Ser3264=)
|
|
|
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.9828T>C (p.Tyr3276=)
|
|
|
NM_152564.5(VPS13B):c.9858A>G (p.Pro3286=)
|
|
|
NM_152564.5(VPS13B):c.9915C>A (p.Ala3305=)
|
|
|
NM_152564.5(VPS13B):c.9927C>T (p.Asn3309=)
|
|
|
NM_152564.5(VPS13B):c.9933G>A (p.Gln3311=)
|
rs2130866834
|
|
NM_152564.5(VPS13B):c.993A>G (p.Gln331=)
|
|
|
NM_152564.5(VPS13B):c.9942+12A>G
|
|
|
NM_152564.5(VPS13B):c.9942+17T>A
|
|
|
NM_152564.5(VPS13B):c.9942+20C>T
|
rs1490242319
|
|
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.9943-4G>T
|
rs2130902382
|
|
NM_152564.5(VPS13B):c.9943-7T>C
|
|
|
NM_152564.5(VPS13B):c.9945T>G (p.Val3315=)
|
|
|
NM_152564.5(VPS13B):c.9952C>T (p.Leu3318=)
|
|
|
NM_152564.5(VPS13B):c.997T>C (p.Leu333=)
|
|
|
NM_152564.5(VPS13B):c.9981T>C (p.Asp3327=)
|
|
|
NM_152564.5(VPS13B):c.9G>A (p.Glu3=)
|
|
|