NM_152564.5(VPS13B):c.6047-257G>A
|
rs4735634
|
0.04243
|
NM_152564.5(VPS13B):c.3666+152T>C
|
rs78645786
|
0.03898
|
NM_152564.5(VPS13B):c.8098-312G>A
|
rs116971935
|
0.02990
|
NM_152564.5(VPS13B):c.6046+210G>A
|
rs1449790
|
0.02934
|
NM_152564.5(VPS13B):c.2824+83T>A
|
rs186729358
|
0.02041
|
NM_152564.5(VPS13B):c.3211-152A>G
|
rs77706283
|
0.01964
|
NM_152564.5(VPS13B):c.763-89C>A
|
rs138515744
|
0.01527
|
NM_152564.5(VPS13B):c.10867+157C>G
|
rs115753096
|
0.01179
|
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln)
|
rs75933366
|
0.01162
|
NM_152564.5(VPS13B):c.9183+197G>C
|
rs11997610
|
0.01153
|
NM_152564.5(VPS13B):c.9743-47T>G
|
rs78260251
|
0.01080
|
NM_152564.5(VPS13B):c.5077-241A>G
|
rs116011290
|
0.01079
|
NM_152564.5(VPS13B):c.11044+13G>A
|
rs116819080
|
0.01028
|
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=)
|
rs16897391
|
0.01022
|
NM_152564.5(VPS13B):c.3445+227A>G
|
rs80150037
|
0.00948
|
NM_152564.5(VPS13B):c.2209-334G>A
|
rs113889799
|
0.00915
|
NM_152564.5(VPS13B):c.938-164T>G
|
rs112458271
|
0.00893
|
NM_152564.5(VPS13B):c.412+181G>A
|
rs141308505
|
0.00827
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_152564.5(VPS13B):c.11044+33C>A
|
rs72676269
|
0.00818
|
NM_152564.5(VPS13B):c.5076+240G>A
|
rs149130480
|
0.00813
|
NM_152564.5(VPS13B):c.2515+16258T>C
|
rs147966059
|
0.00810
|
NM_152564.5(VPS13B):c.10868-56T>C
|
rs117709551
|
0.00808
|
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=)
|
rs61742808
|
0.00740
|
NM_152564.5(VPS13B):c.9614+302G>A
|
rs78692729
|
0.00701
|
NM_152564.5(VPS13B):c.291+277C>T
|
rs190751801
|
0.00690
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
NM_152564.5(VPS13B):c.2650+259G>A
|
rs191182682
|
0.00688
|
NM_152564.5(VPS13B):c.7779+102G>A
|
rs151077038
|
0.00685
|
NM_152564.5(VPS13B):c.292-282C>A
|
rs139188233
|
0.00662
|
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln)
|
rs61754113
|
0.00651
|
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)
|
rs138127778
|
0.00637
|
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)
|
rs113671330
|
0.00608
|
NM_152564.5(VPS13B):c.4950-90A>T
|
rs116711715
|
0.00593
|
NM_152564.5(VPS13B):c.5077-311A>G
|
rs138469023
|
0.00533
|
NM_152564.5(VPS13B):c.7430-240A>T
|
rs572379512
|
0.00532
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_152564.5(VPS13B):c.9615-321G>A
|
rs77687953
|
0.00479
|
NM_152564.5(VPS13B):c.8362-188C>T
|
rs116460739
|
0.00475
|
NM_152564.5(VPS13B):c.3083-81C>A
|
rs140677395
|
0.00462
|
NM_152564.5(VPS13B):c.11393-249T>C
|
rs74485065
|
0.00453
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_152564.5(VPS13B):c.10867+96T>A
|
rs527945139
|
0.00425
|
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)
|
rs61753725
|
0.00412
|
NM_152564.5(VPS13B):c.2825-263G>A
|
rs149793635
|
0.00401
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_152564.5(VPS13B):c.4225-199C>T
|
rs79931505
|
0.00376
|
NM_152564.5(VPS13B):c.6658-94A>G
|
rs114619467
|
0.00374
|
NM_152564.5(VPS13B):c.7050+11A>G
|
rs114546856
|
0.00372
|
NM_152564.5(VPS13B):c.11745+164G>A
|
rs114863937
|
0.00341
|
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.4949+105T>G
|
rs189692164
|
0.00301
|
NM_152564.5(VPS13B):c.4746-15T>C
|
rs117058417
|
0.00272
|
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val)
|
rs112045467
|
0.00251
|
NM_152564.5(VPS13B):c.11392+8G>A
|
rs147921058
|
0.00242
|
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.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_152564.5(VPS13B):c.4224+549C>T
|
rs182492131
|
0.00113
|
NM_152564.5(VPS13B):c.1844-51G>A
|
rs113413237
|
0.00112
|
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.412+36A>G
|
rs146475623
|
0.00101
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=)
|
rs114038492
|
0.00088
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
NM_152564.5(VPS13B):c.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.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)
|
rs112634620
|
0.00066
|
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.711T>C (p.Arg237=)
|
rs140808736
|
0.00047
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
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.2356A>G (p.Ile786Val)
|
rs202052403
|
0.00028
|
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.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val)
|
rs141638933
|
0.00020
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00019
|
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)
|
rs368851580
|
0.00016
|
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.7660G>C (p.Val2554Leu)
|
rs202226215
|
0.00014
|
NM_152564.5(VPS13B):c.2472C>T (p.Ser824=)
|
rs766373133
|
0.00011
|
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=)
|
rs182347753
|
0.00008
|
NM_152564.5(VPS13B):c.1303-9G>A
|
rs370251445
|
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.10755C>T (p.Asp3585=)
|
rs145950999
|
0.00005
|
NM_152564.5(VPS13B):c.10809G>A (p.Ala3603=)
|
rs768029540
|
0.00004
|
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=)
|
rs765163542
|
0.00004
|
NM_152564.5(VPS13B):c.9135G>A (p.Ala3045=)
|
rs574238919
|
0.00004
|
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=)
|
rs143728471
|
0.00004
|
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala)
|
rs112749780
|
0.00003
|
NM_152564.5(VPS13B):c.581-10T>C
|
rs770058631
|
0.00003
|
NM_152564.5(VPS13B):c.11715C>A (p.Leu3905=)
|
rs755448442
|
0.00002
|
NM_017890.5(VPS13B):c.4180T>C (p.Leu1394=)
|
rs1246500568
|
0.00001
|
NM_152564.5(VPS13B):c.10152T>G (p.Ala3384=)
|
rs374129601
|
0.00001
|
NM_152564.5(VPS13B):c.10473C>G (p.Leu3491=)
|
rs1302374134
|
0.00001
|
NM_152564.5(VPS13B):c.10941C>T (p.Ala3647=)
|
rs781760595
|
0.00001
|
NM_152564.5(VPS13B):c.11577T>C (p.His3859=)
|
rs771158927
|
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.234A>G (p.Pro78=)
|
rs372597619
|
0.00001
|
NM_152564.5(VPS13B):c.2751G>A (p.Glu917=)
|
rs192509060
|
0.00001
|
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys)
|
rs138453594
|
0.00001
|
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro)
|
rs769551176
|
0.00001
|
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=)
|
rs1383239374
|
0.00001
|
GRCh37/hg19 8q22.2(chr8:100324335-100564600)x1
|
|
|
GRCh37/hg19 8q22.2(chr8:100342240-100494359)x1
|
|
|
NM_152564.5(VPS13B):c.*264_*265dup
|
|
|
NM_152564.5(VPS13B):c.10061+94T>C
|
|
|
NM_152564.5(VPS13B):c.10926C>T (p.Ile3642=)
|
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=)
|
rs77759532
|
|
NM_152564.5(VPS13B):c.1552A>T (p.Thr518Ser)
|
rs766801968
|
|
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=)
|
|
|
NM_152564.5(VPS13B):c.1843+293dup
|
rs751722197
|
|
NM_152564.5(VPS13B):c.2013+59_2013+61del
|
rs199769640
|
|
NM_152564.5(VPS13B):c.2333+303del
|
rs201052260
|
|
NM_152564.5(VPS13B):c.2515+16591C>G
|
|
|
NM_152564.5(VPS13B):c.2824+34G>T
|
rs895295438
|
|
NM_152564.5(VPS13B):c.285G>A (p.Gly95=)
|
rs2132222228
|
|
NM_152564.5(VPS13B):c.291+137_291+139del
|
rs34774482
|
|
NM_152564.5(VPS13B):c.3666+77_3666+158dup
|
rs2133511779
|
|
NM_152564.5(VPS13B):c.3765C>T (p.Thr1255=)
|
|
|
NM_152564.5(VPS13B):c.4042+116_4042+117insGTC
|
rs751667230
|
|
NM_152564.5(VPS13B):c.4042+117_4042+120del
|
|
|
NM_152564.5(VPS13B):c.4042+124_4042+125insTTCC
|
|
|
NM_152564.5(VPS13B):c.4042+285C>T
|
rs149905388
|
|
NM_152564.5(VPS13B):c.4042+39TCCC[11]
|
rs554230536
|
|
NM_152564.5(VPS13B):c.412+340_412+341del
|
rs56378823
|
|
NM_152564.5(VPS13B):c.4157+105A>G
|
rs550251651
|
|
NM_152564.5(VPS13B):c.420G>A (p.Val140=)
|
rs1379154568
|
|
NM_152564.5(VPS13B):c.6857A>G (p.Gln2286Arg)
|
rs200713917
|
|
NM_152564.5(VPS13B):c.8134T>C (p.Leu2712=)
|
|
|
NM_152564.5(VPS13B):c.8457C>T (p.Ser2819=)
|
|
|
NM_152564.5(VPS13B):c.8709A>G (p.Thr2903=)
|
rs765352584
|
|
NM_152564.5(VPS13B):c.9330+222C>T
|
rs61439510
|
|
NM_152564.5(VPS13B):c.9331-99_9331-98dup
|
rs68156520
|
|
NM_152564.5(VPS13B):c.9796C>T (p.His3266Tyr)
|
rs1815349470
|
|