NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)
|
rs138127778
|
0.00637
|
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.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.11619G>C (p.Val3873=)
|
rs113454700
|
0.00194
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
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.10824C>T (p.His3608=)
|
rs114818249
|
0.00126
|
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.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
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.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.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
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.7669G>A (p.Asp2557Asn)
|
rs773242093
|
0.00029
|
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val)
|
rs202052403
|
0.00028
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu)
|
rs138565077
|
0.00021
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys)
|
rs398124326
|
0.00016
|
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile)
|
rs141793014
|
0.00016
|
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)
|
rs145419141
|
0.00016
|
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.2470T>G (p.Ser824Ala)
|
rs149866274
|
0.00012
|
NM_152564.5(VPS13B):c.2472C>T (p.Ser824=)
|
rs766373133
|
0.00011
|
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr)
|
rs143566455
|
0.00011
|
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser)
|
rs778256097
|
0.00010
|
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg)
|
rs371961155
|
0.00008
|
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln)
|
rs371500701
|
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.9645C>T (p.Leu3215=)
|
rs373968888
|
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.1754G>A (p.Arg585His)
|
rs773472945
|
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.1748A>G (p.Asp583Gly)
|
rs368595026
|
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.3598C>T (p.Arg1200Ter)
|
rs140353201
|
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.11577T>C (p.His3859=)
|
rs771158927
|
0.00001
|
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=)
|
rs368092348
|
0.00001
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
NM_152564.5(VPS13B):c.234A>G (p.Pro78=)
|
rs372597619
|
0.00001
|
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr)
|
rs774142530
|
0.00001
|
NM_152564.5(VPS13B):c.2751G>A (p.Glu917=)
|
rs192509060
|
0.00001
|
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His)
|
rs757707584
|
0.00001
|
NM_152564.5(VPS13B):c.4763G>T (p.Gly1588Val)
|
rs760057249
|
0.00001
|
NM_152564.5(VPS13B):c.502G>A (p.Val168Ile)
|
rs750201290
|
0.00001
|
NM_152564.5(VPS13B):c.6401C>G (p.Ser2134Cys)
|
rs367838871
|
0.00001
|
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro)
|
rs1366756885
|
0.00001
|
NM_152564.5(VPS13B):c.78A>G (p.Leu26=)
|
rs745980143
|
0.00001
|
NM_152564.5(VPS13B):c.826C>T (p.Arg276Cys)
|
rs1297259725
|
0.00001
|
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=)
|
rs1383239374
|
0.00001
|
GRCh37/hg19 8q22.2(chr8:100050651-100123507)x1
|
|
|
GRCh37/hg19 8q22.2(chr8:100115181-100115348)x1
|
|
|
GRCh37/hg19 8q22.2(chr8:100286427-100287483)x1
|
|
|
GRCh37/hg19 8q22.2(chr8:100587886-100589861)x1
|
|
|
GRCh37/hg19 8q22.2(chr8:100673582-100673719)x1
|
|
|
NM_152564.5(VPS13B):c.*264_*265dup
|
|
|
NM_152564.5(VPS13B):c.1002T>G (p.Tyr334Ter)
|
rs1057519182
|
|
NM_152564.5(VPS13B):c.10302T>A (p.Tyr3434Ter)
|
|
|
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter)
|
rs758842658
|
|
NM_152564.5(VPS13B):c.10926C>T (p.Ile3642=)
|
|
|
NM_152564.5(VPS13B):c.11093T>C (p.Met3698Thr)
|
rs1816852231
|
|
NM_152564.5(VPS13B):c.11763G>A (p.Glu3921=)
|
|
|
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=)
|
rs180177355
|
|
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=)
|
|
|
NM_152564.5(VPS13B):c.1948T>C (p.Cys650Arg)
|
rs1445340623
|
|
NM_152564.5(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla)
|
rs1813688418
|
|
NM_152564.5(VPS13B):c.2515+16591C>G
|
|
|
NM_152564.5(VPS13B):c.285G>A (p.Gly95=)
|
rs2132222228
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
NM_152564.5(VPS13B):c.3765C>T (p.Thr1255=)
|
|
|
NM_152564.5(VPS13B):c.404dup (p.Leu135fs)
|
rs386834083
|
|
NM_152564.5(VPS13B):c.420G>A (p.Val140=)
|
rs1379154568
|
|
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del)
|
rs1057519183
|
|
NM_152564.5(VPS13B):c.5980_5981del (p.Asp1994fs)
|
rs1830219226
|
|
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs)
|
rs761736983
|
|
NM_152564.5(VPS13B):c.6G>T (p.Leu2=)
|
rs752072948
|
|
NM_152564.5(VPS13B):c.710G>C (p.Arg237Pro)
|
|
|
NM_152564.5(VPS13B):c.7304C>T (p.Ala2435Val)
|
|
|
NM_152564.5(VPS13B):c.7446_7453dup (p.Phe2485fs)
|
rs2130678319
|
|
NM_152564.5(VPS13B):c.7552_7555del (p.Cys2518fs)
|
rs886041587
|
|
NM_152564.5(VPS13B):c.7847C>T (p.Thr2616Ile)
|
rs1812159282
|
|
NM_152564.5(VPS13B):c.7892C>T (p.Ala2631Val)
|
rs768459862
|
|
NM_152564.5(VPS13B):c.8134T>C (p.Leu2712=)
|
|
|
NM_152564.5(VPS13B):c.8208T>C (p.His2736=)
|
|
|
NM_152564.5(VPS13B):c.8252T>C (p.Leu2751Pro)
|
rs1563488848
|
|
NM_152564.5(VPS13B):c.8457C>T (p.Ser2819=)
|
|
|
NM_152564.5(VPS13B):c.8512_8516del (p.Lys2838fs)
|
rs1814195897
|
|
NM_152564.5(VPS13B):c.8709A>G (p.Thr2903=)
|
rs765352584
|
|
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)
|
rs759536357
|
|
NM_152564.5(VPS13B):c.9619A>G (p.Ile3207Val)
|
|
|
NM_152564.5(VPS13B):c.9796C>T (p.His3266Tyr)
|
rs1815349470
|
|