ClinVar Miner

List of variants studied for Cohen syndrome

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ClinVar version:
Total variants: 5630
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_152564.5(VPS13B):c.10061+24G>A rs34513504 0.23936
NM_152564.5(VPS13B):c.*1783C>T rs7157 0.22293
NM_152564.5(VPS13B):c.3666+55T>C rs3134156 0.17393
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.16279
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11818
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.06924
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_152564.5(VPS13B):c.*702dup rs200421894 0.03823
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.01949
NC_000008.11:g.99877598T>G rs10106711 0.01806
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_152564.5(VPS13B):c.*336_*353dup rs554420171 0.01237
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) rs16897391 0.01022
NM_152564.5(VPS13B):c.11044+13G>A rs116819080 0.00967
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=) rs138667007 0.00801
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235 0.00760
NM_152564.5(VPS13B):c.*1539A>G rs80237506 0.00751
NM_152564.5(VPS13B):c.2934+14A>T rs187151724 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00689
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) rs145969836 0.00688
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00685
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00658
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln) rs61754113 0.00651
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00648
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) rs145648860 0.00640
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00530
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00488
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00445
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 0.00355
NM_152564.5(VPS13B):c.7050+11A>G rs114546856 0.00350
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00339
NM_152564.5(VPS13B):c.*655G>C rs78305289 0.00328
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00260
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val) rs112045467 0.00251
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00228
NM_152564.5(VPS13B):c.*61G>A rs189939258 0.00218
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00205
NM_152564.5(VPS13B):c.*1355T>G rs562826355 0.00204
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00201
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 0.00157
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.1832G>A (p.Arg611Lys) rs61754109 0.00121
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.4224+549C>T rs182492131 0.00115
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00110
NM_152564.5(VPS13B):c.*202T>A rs201566966 0.00108
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00107
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00104
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_152564.5(VPS13B):c.11495+19G>A rs370575091 0.00092
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.*924A>C rs186225330 0.00074
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.2596G>A (p.Val866Ile) rs150185067 0.00071
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00070
NM_152564.5(VPS13B):c.3211-11T>C rs77129176 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00070
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) rs145279584 0.00069
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.*831C>T rs547185676 0.00067
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00067
NM_152564.5(VPS13B):c.11495+6A>G rs116546060 0.00066
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00066
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr) rs73273219 0.00061
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=) rs112634620 0.00058
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00050
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00048
NM_152564.5(VPS13B):c.711T>C (p.Arg237=) rs140808736 0.00047
NM_152564.5(VPS13B):c.6645A>C (p.Gly2215=) rs147817990 0.00044
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) rs146460917 0.00042
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile) rs376498106 0.00042
NM_152564.5(VPS13B):c.8793-12T>A rs189516672 0.00042
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile) rs140709787 0.00041
NM_152564.5(VPS13B):c.*743T>G rs144603951 0.00038
NM_152564.5(VPS13B):c.7430-11T>C rs369223072 0.00035
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser) rs147342579 0.00033
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.10521C>T (p.Tyr3507=) rs767239312 0.00032
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) rs143112539 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.10867+11A>G rs376656751 0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00029
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val) rs202015701 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=) rs142380266 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_152564.5(VPS13B):c.2515+16591C>G rs369218128 0.00028
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val) rs376308074 0.00027
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=) rs148033080 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.7366G>A (p.Val2456Ile) rs201963516 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.1082A>G (p.Asp361Gly) rs143295587 0.00023
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00022
NM_152564.5(VPS13B):c.*1345C>T rs778566330 0.00021
NM_152564.5(VPS13B):c.*745C>G rs138761680 0.00021
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00021
NM_152564.5(VPS13B):c.7752A>G (p.Leu2584=) rs201735478 0.00020
NM_152564.5(VPS13B):c.10992C>T (p.Phe3664=) rs575051014 0.00019
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu) rs138565077 0.00019
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00019
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00019
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) rs148704031 0.00019
NM_152564.5(VPS13B):c.6072G>A (p.Lys2024=) rs142850229 0.00019
NM_152564.5(VPS13B):c.6658-13T>A rs369117364 0.00019
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys) rs398124326 0.00018
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00018
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=) rs199941415 0.00018
NM_152564.5(VPS13B):c.8280T>C (p.Cys2760=) rs145090492 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_152564.5(VPS13B):c.6833G>A (p.Arg2278Gln) rs748374112 0.00017
NM_152564.5(VPS13B):c.*1540T>C rs148026916 0.00016
NM_152564.5(VPS13B):c.10868-8C>T rs770620321 0.00016
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile) rs141793014 0.00016
NM_152564.5(VPS13B):c.3083-9C>T rs376659281 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu) rs201723380 0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) rs150376603 0.00016
NM_152564.5(VPS13B):c.4746-3C>A rs199884841 0.00016
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=) rs368851580 0.00016
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His) rs147099791 0.00016
NM_152564.5(VPS13B):c.4254T>G (p.His1418Gln) rs201349007 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.11474A>G (p.Asn3825Ser) rs199741560 0.00014
NM_152564.5(VPS13B):c.1207-11A>G rs199984592 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.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_152564.5(VPS13B):c.8104A>T (p.Ile2702Phe) rs774565889 0.00014
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=) rs182347753 0.00014
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00013
NM_152564.5(VPS13B):c.11215+12C>T rs371237817 0.00013
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu) rs142516047 0.00013
NM_152564.5(VPS13B):c.1186A>G (p.Lys396Glu) rs755937467 0.00013
NM_152564.5(VPS13B):c.1843+10T>C rs371154826 0.00013
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=) rs144223843 0.00013
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) rs200327756 0.00013
NM_152564.5(VPS13B):c.6048G>A (p.Ala2016=) rs200691718 0.00013
NM_152564.5(VPS13B):c.8750C>T (p.Ser2917Leu) rs139732310 0.00013
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 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.5612C>A (p.Thr1871Lys) rs920484397 0.00012
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) rs376652526 0.00012
NM_152564.5(VPS13B):c.11215+13G>A rs370691974 0.00011
NM_152564.5(VPS13B):c.11392+771C>A rs954860162 0.00011
NM_152564.5(VPS13B):c.1551A>C (p.Ser517=) rs200635121 0.00011
NM_152564.5(VPS13B):c.2472C>T (p.Ser824=) rs766373133 0.00011
NM_152564.5(VPS13B):c.2880A>T (p.Leu960Phe) rs760792770 0.00011
NM_152564.5(VPS13B):c.3621C>T (p.Leu1207=) rs373889030 0.00011
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr) rs143566455 0.00011
NM_152564.5(VPS13B):c.4549C>T (p.Arg1517Cys) rs375652507 0.00011
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676 0.00011
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00011
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=) rs370903187 0.00011
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys) rs144350008 0.00011
NM_152564.5(VPS13B):c.8727C>T (p.Asp2909=) rs201517365 0.00011
NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys) rs143787982 0.00011
NM_152564.5(VPS13B):c.*1207G>C rs182082022 0.00010
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His) rs186644576 0.00010
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00010
NM_152564.5(VPS13B):c.3088C>T (p.Arg1030Cys) rs374072699 0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) rs200982547 0.00010
NM_152564.5(VPS13B):c.3559G>A (p.Val1187Ile) rs151247807 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 0.00010
NM_152564.5(VPS13B):c.709C>T (p.Arg237Cys) rs376296532 0.00010
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser) rs778256097 0.00010
NM_152564.5(VPS13B):c.9743-18C>G rs760570932 0.00010
NM_152564.5(VPS13B):c.9756T>G (p.Phe3252Leu) rs758710347 0.00010
NM_152564.5(VPS13B):c.11885C>G (p.Pro3962Arg) rs531619892 0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_152564.5(VPS13B):c.1464G>A (p.Thr488=) rs727504217 0.00009
NM_152564.5(VPS13B):c.1564-16A>T rs373961851 0.00009
NM_152564.5(VPS13B):c.1762A>G (p.Ser588Gly) rs759332797 0.00009
NM_152564.5(VPS13B):c.2013+20A>G rs199709281 0.00009
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala) rs374124369 0.00009
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met) rs398124331 0.00009
NM_152564.5(VPS13B):c.4791C>T (p.Ile1597=) rs543837370 0.00009
NM_152564.5(VPS13B):c.4829A>G (p.Asn1610Ser) rs201587931 0.00009
NM_152564.5(VPS13B):c.4986C>T (p.Thr1662=) rs148773425 0.00009
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His) rs587780498 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.7995C>G (p.Phe2665Leu) rs149017920 0.00009
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val) rs142110082 0.00009
NM_152564.5(VPS13B):c.10181T>G (p.Ile3394Ser) rs568879276 0.00008
NM_152564.5(VPS13B):c.10868-7G>A rs376141593 0.00008
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys) rs180177372 0.00008
NM_152564.5(VPS13B):c.3150A>G (p.Glu1050=) rs144920754 0.00008
NM_152564.5(VPS13B):c.347C>G (p.Thr116Arg) rs762421764 0.00008
NM_152564.5(VPS13B):c.3650A>C (p.Lys1217Thr) rs138000928 0.00008
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) rs371961155 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu) rs552843068 0.00008
NM_152564.5(VPS13B):c.560G>A (p.Arg187His) rs150941426 0.00008
NM_152564.5(VPS13B):c.7942-19T>A rs200318613 0.00008
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro) rs199559979 0.00008
NM_152564.5(VPS13B):c.10549A>G (p.Lys3517Glu) rs143187571 0.00007
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00007
NM_152564.5(VPS13B):c.11495+18C>T rs151025899 0.00007
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln) rs147907236 0.00007
NM_152564.5(VPS13B):c.1303-4A>G rs772842729 0.00007
NM_152564.5(VPS13B):c.329G>A (p.Arg110His) rs61754110 0.00007
NM_152564.5(VPS13B):c.3766A>G (p.Met1256Val) rs570925076 0.00007
NM_152564.5(VPS13B):c.4550G>A (p.Arg1517His) rs531149269 0.00007
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) rs368362777 0.00007
NM_152564.5(VPS13B):c.5631G>A (p.Arg1877=) rs937213176 0.00007
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00007
NM_152564.5(VPS13B):c.6690A>T (p.Leu2230Phe) rs775506296 0.00007
NM_152564.5(VPS13B):c.7291G>A (p.Val2431Met) rs138405323 0.00007
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val) rs369100428 0.00007
NM_152564.5(VPS13B):c.8097+10T>C rs971919054 0.00007
NM_152564.5(VPS13B):c.8177G>A (p.Gly2726Asp) rs376283724 0.00007
NM_152564.5(VPS13B):c.9338G>A (p.Arg3113His) rs141408531 0.00007
NM_152564.5(VPS13B):c.*304C>T rs913240465 0.00006
NM_152564.5(VPS13B):c.1000T>C (p.Tyr334His) rs150464408 0.00006
NM_152564.5(VPS13B):c.1076A>G (p.Tyr359Cys) rs727504216 0.00006
NM_152564.5(VPS13B):c.10845C>T (p.Ala3615=) rs781485612 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.1209C>T (p.Leu403=) rs756539595 0.00006
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147 0.00006
NM_152564.5(VPS13B):c.1303-9G>A rs370251445 0.00006
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile) rs200519753 0.00006
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632 0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701 0.00006
NM_152564.5(VPS13B):c.2137C>T (p.His713Tyr) rs796181999 0.00006
NM_152564.5(VPS13B):c.2617A>G (p.Met873Val) rs745651556 0.00006
NM_152564.5(VPS13B):c.2655T>C (p.Asp885=) rs769466569 0.00006
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly) rs749751670 0.00006
NM_152564.5(VPS13B):c.367C>T (p.Arg123Trp) rs551933357 0.00006
NM_152564.5(VPS13B):c.4954C>T (p.Arg1652Trp) rs376467374 0.00006
NM_152564.5(VPS13B):c.5077-14C>T rs181830964 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152564.5(VPS13B):c.7718T>C (p.Phe2573Ser) rs199528303 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_152564.5(VPS13B):c.8102T>C (p.Ile2701Thr) rs189689493 0.00006
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val) rs145265055 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.9830C>T (p.Pro3277Leu) rs141138612 0.00006
NM_152564.5(VPS13B):c.9948G>A (p.Val3316=) rs757595357 0.00006
NM_152564.5(VPS13B):c.*705T>C rs886062554 0.00005
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=) rs139227281 0.00005
NM_152564.5(VPS13B):c.10651G>A (p.Ala3551Thr) rs528991858 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.10868-11G>C rs373157768 0.00005
NM_152564.5(VPS13B):c.10939G>A (p.Ala3647Thr) rs868118584 0.00005
NM_152564.5(VPS13B):c.11240A>G (p.Gln3747Arg) rs779751988 0.00005
NM_152564.5(VPS13B):c.11393-20C>G rs375736015 0.00005
NM_152564.5(VPS13B):c.11447G>A (p.Ser3816Asn) rs1419202718 0.00005
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=) rs572479795 0.00005
NM_152564.5(VPS13B):c.11668G>A (p.Asp3890Asn) rs771105877 0.00005
NM_152564.5(VPS13B):c.1530C>T (p.Arg510=) rs149919865 0.00005
NM_152564.5(VPS13B):c.1652-9T>A rs375615155 0.00005
NM_152564.5(VPS13B):c.1754G>A (p.Arg585His) rs773472945 0.00005
NM_152564.5(VPS13B):c.2051C>T (p.Ser684Phe) rs367999029 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152564.5(VPS13B):c.2650+17C>T rs753268999 0.00005
NM_152564.5(VPS13B):c.291+19A>G rs200474579 0.00005
NM_152564.5(VPS13B):c.3083-19T>A rs544048511 0.00005
NM_152564.5(VPS13B):c.3180T>C (p.Val1060=) rs528478636 0.00005
NM_152564.5(VPS13B):c.3379G>T (p.Gly1127Trp) rs117357319 0.00005
NM_152564.5(VPS13B):c.3873A>G (p.Gly1291=) rs772263007 0.00005
NM_152564.5(VPS13B):c.4256A>G (p.Gln1419Arg) rs1189900037 0.00005
NM_152564.5(VPS13B):c.4876G>A (p.Val1626Ile) rs138577821 0.00005
NM_152564.5(VPS13B):c.4890G>A (p.Val1630=) rs144069822 0.00005
NM_152564.5(VPS13B):c.4950-18T>G rs188457078 0.00005
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe) rs763052877 0.00005
NM_152564.5(VPS13B):c.5909-14T>C rs377274392 0.00005
NM_152564.5(VPS13B):c.6046+18T>G rs1009720045 0.00005
NM_152564.5(VPS13B):c.611A>G (p.Asn204Ser) rs201363767 0.00005
NM_152564.5(VPS13B):c.6713A>G (p.Asn2238Ser) rs141275433 0.00005
NM_152564.5(VPS13B):c.6979A>G (p.Ile2327Val) rs761504023 0.00005
NM_152564.5(VPS13B):c.6983C>G (p.Thr2328Ser) rs764775015 0.00005
NM_152564.5(VPS13B):c.7051-7A>C rs772934540 0.00005
NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu) rs183874686 0.00005
NM_152564.5(VPS13B):c.7247+9T>C rs545008110 0.00005
NM_152564.5(VPS13B):c.7266T>C (p.Gly2422=) rs766519309 0.00005
NM_152564.5(VPS13B):c.7623T>A (p.Ser2541Arg) rs754632431 0.00005
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly) rs140061281 0.00005
NM_152564.5(VPS13B):c.7912T>C (p.Tyr2638His) rs761563766 0.00005
NM_152564.5(VPS13B):c.8423A>G (p.Asn2808Ser) rs368357351 0.00005
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00005
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00005
NM_152564.5(VPS13B):c.9331-2A>G rs74485751 0.00005
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln) rs544366805 0.00005
NM_152564.5(VPS13B):c.9657T>C (p.Tyr3219=) rs780634043 0.00005
NM_017890.5(VPS13B):c.4231C>T (p.Arg1411Cys) rs376954713 0.00004
NM_152564.5(VPS13B):c.-30T>A rs886062533 0.00004
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) rs200268089 0.00004
NM_152564.5(VPS13B):c.10650C>T (p.His3550=) rs372367817 0.00004
NM_152564.5(VPS13B):c.10714G>A (p.Val3572Ile) rs369258469 0.00004
NM_152564.5(VPS13B):c.10809G>A (p.Ala3603=) rs768029540 0.00004
NM_152564.5(VPS13B):c.10846G>A (p.Ala3616Thr) rs149659649 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.11001C>T (p.Gly3667=) rs367797468 0.00004
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys) rs370172252 0.00004
NM_152564.5(VPS13B):c.11098C>T (p.Arg3700Trp) rs779427167 0.00004
NM_152564.5(VPS13B):c.11129G>A (p.Arg3710Gln) rs987017060 0.00004
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys) rs369891888 0.00004
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=) rs760377055 0.00004
NM_152564.5(VPS13B):c.1168A>G (p.Ile390Val) rs563261178 0.00004
NM_152564.5(VPS13B):c.11846_11875del (p.Met3949_Glu3959delinsLys) rs747131665 0.00004
NM_152564.5(VPS13B):c.11883C>G (p.Pro3961=) rs763272836 0.00004
NM_152564.5(VPS13B):c.1302+12A>G rs373595907 0.00004
NM_152564.5(VPS13B):c.1365G>A (p.Met455Ile) rs1187769339 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_152564.5(VPS13B):c.1492T>C (p.Leu498=) rs752775103 0.00004
NM_152564.5(VPS13B):c.1564-15T>C rs367784958 0.00004
NM_152564.5(VPS13B):c.1594C>T (p.Arg532Trp) rs369930405 0.00004
NM_152564.5(VPS13B):c.1627A>G (p.Thr543Ala) rs372625091 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2016C>T (p.Asn672=) rs780448792 0.00004
NM_152564.5(VPS13B):c.2209-4T>G rs201309214 0.00004
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met) rs199574731 0.00004
NM_152564.5(VPS13B):c.2328A>G (p.Thr776=) rs760800494 0.00004
NM_152564.5(VPS13B):c.2438A>G (p.Gln813Arg) rs146195479 0.00004
NM_152564.5(VPS13B):c.2509A>T (p.Ser837Cys) rs201872788 0.00004
NM_152564.5(VPS13B):c.2651-8C>A rs201628860 0.00004
NM_152564.5(VPS13B):c.2823C>T (p.Ser941=) rs199881514 0.00004
NM_152564.5(VPS13B):c.2824G>A (p.Gly942Ser) rs370336663 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.2950G>C (p.Val984Leu) rs148422160 0.00004
NM_152564.5(VPS13B):c.3082+9C>G rs529476662 0.00004
NM_152564.5(VPS13B):c.3262C>G (p.Pro1088Ala) rs373965494 0.00004
NM_152564.5(VPS13B):c.3332C>T (p.Pro1111Leu) rs576973103 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.3584C>T (p.Thr1195Met) rs778388170 0.00004
NM_152564.5(VPS13B):c.366G>A (p.Pro122=) rs373340298 0.00004
NM_152564.5(VPS13B):c.368G>A (p.Arg123Gln) rs767654043 0.00004
NM_152564.5(VPS13B):c.3784A>G (p.Thr1262Ala) rs199872639 0.00004
NM_152564.5(VPS13B):c.3955A>G (p.Ser1319Gly) rs374363141 0.00004
NM_152564.5(VPS13B):c.4042+7G>T rs772651692 0.00004
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=) rs754939057 0.00004
NM_152564.5(VPS13B):c.4285A>T (p.Thr1429Ser) rs764653250 0.00004
NM_152564.5(VPS13B):c.4337G>A (p.Arg1446Gln) rs756140213 0.00004
NM_152564.5(VPS13B):c.4356A>T (p.Leu1452Phe) rs61754112 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_152564.5(VPS13B):c.450T>C (p.Asn150=) rs746257136 0.00004
NM_152564.5(VPS13B):c.4796A>G (p.Asp1599Gly) rs1288339042 0.00004
NM_152564.5(VPS13B):c.4950-9A>G rs373474658 0.00004
NM_152564.5(VPS13B):c.5012G>A (p.Arg1671Gln) rs565360322 0.00004
NM_152564.5(VPS13B):c.510C>T (p.Ser170=) rs749836132 0.00004
NM_152564.5(VPS13B):c.511G>A (p.Val171Ile) rs529286193 0.00004
NM_152564.5(VPS13B):c.5141G>A (p.Ser1714Asn) rs1343776715 0.00004
NM_152564.5(VPS13B):c.5378G>A (p.Arg1793His) rs763703607 0.00004
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly) rs373678127 0.00004
NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys) rs774677234 0.00004
NM_152564.5(VPS13B):c.5636G>A (p.Ser1879Asn) rs760882381 0.00004
NM_152564.5(VPS13B):c.6047-10A>G rs761450531 0.00004
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00004
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe) rs374298481 0.00004
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu) rs369932118 0.00004
NM_152564.5(VPS13B):c.6658-8T>C rs1448547844 0.00004
NM_152564.5(VPS13B):c.6832C>T (p.Arg2278Trp) rs781460252 0.00004
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser) rs750125340 0.00004
NM_152564.5(VPS13B):c.7429+4C>A rs757079639 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 0.00004
NM_152564.5(VPS13B):c.7848A>G (p.Thr2616=) rs757256533 0.00004
NM_152564.5(VPS13B):c.8097+19A>G rs1200902916 0.00004
NM_152564.5(VPS13B):c.8390A>G (p.Tyr2797Cys) rs371325199 0.00004
NM_152564.5(VPS13B):c.8713A>C (p.Asn2905His) rs770344131 0.00004
NM_152564.5(VPS13B):c.8994+16T>A rs764950051 0.00004
NM_152564.5(VPS13B):c.9135G>A (p.Ala3045=) rs574238919 0.00004
NM_152564.5(VPS13B):c.9322G>A (p.Gly3108Arg) rs1814523416 0.00004
NM_152564.5(VPS13B):c.9608G>C (p.Cys3203Ser) rs747611342 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.*140G>A rs535987441 0.00003
NM_152564.5(VPS13B):c.*637C>G rs565441903 0.00003
NM_152564.5(VPS13B):c.10064C>T (p.Ala3355Val) rs199931583 0.00003
NM_152564.5(VPS13B):c.10082C>A (p.Thr3361Lys) rs1219748926 0.00003
NM_152564.5(VPS13B):c.10200G>A (p.Pro3400=) rs151315104 0.00003
NM_152564.5(VPS13B):c.10255T>C (p.Cys3419Arg) rs188030143 0.00003
NM_152564.5(VPS13B):c.10441T>C (p.Cys3481Arg) rs373773690 0.00003
NM_152564.5(VPS13B):c.10533A>G (p.Thr3511=) rs763725361 0.00003
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile) rs781253026 0.00003
NM_152564.5(VPS13B):c.10611C>T (p.Ser3537=) rs779390295 0.00003
NM_152564.5(VPS13B):c.10633A>T (p.Met3545Leu) rs781672013 0.00003
NM_152564.5(VPS13B):c.10643C>T (p.Thr3548Ile) rs750693109 0.00003
NM_152564.5(VPS13B):c.1064C>A (p.Ala355Glu) rs368837821 0.00003
NM_152564.5(VPS13B):c.10670C>T (p.Pro3557Leu) rs866169695 0.00003
NM_152564.5(VPS13B):c.10682G>A (p.Arg3561Gln) rs549125520 0.00003
NM_152564.5(VPS13B):c.10713C>T (p.Leu3571=) rs756468150 0.00003
NM_152564.5(VPS13B):c.10725C>T (p.His3575=) rs757408143 0.00003
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn) rs201965789 0.00003
NM_152564.5(VPS13B):c.10827C>G (p.Ala3609=) rs765577341 0.00003
NM_152564.5(VPS13B):c.10868-18C>T rs755945215 0.00003
NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys) rs116951775 0.00003
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=) rs773474909 0.00003
NM_152564.5(VPS13B):c.11021C>T (p.Ser3674Leu) rs771376605 0.00003
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
NM_152564.5(VPS13B):c.11086C>T (p.Arg3696Trp) rs147891367 0.00003
NM_152564.5(VPS13B):c.11146C>T (p.Arg3716Trp) rs773324603 0.00003
NM_152564.5(VPS13B):c.11208C>T (p.Ser3736=) rs751880506 0.00003
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile) rs753781360 0.00003
NM_152564.5(VPS13B):c.11266T>C (p.Ser3756Pro) rs138012121 0.00003
NM_152564.5(VPS13B):c.11710C>G (p.Gln3904Glu) rs545957190 0.00003
NM_152564.5(VPS13B):c.11745+5G>A rs398124328 0.00003
NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser) rs184614305 0.00003
NM_152564.5(VPS13B):c.1198A>G (p.Thr400Ala) rs139093635 0.00003
NM_152564.5(VPS13B):c.1206+23T>A rs745316537 0.00003
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=) rs765163542 0.00003
NM_152564.5(VPS13B):c.1335C>T (p.Cys445=) rs765890153 0.00003
NM_152564.5(VPS13B):c.1748A>G (p.Asp583Gly) rs368595026 0.00003
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) rs760564848 0.00003
NM_152564.5(VPS13B):c.1865C>T (p.Thr622Ile) rs147043610 0.00003
NM_152564.5(VPS13B):c.1904A>G (p.Tyr635Cys) rs761692416 0.00003
NM_152564.5(VPS13B):c.2189A>G (p.Tyr730Cys) rs561369703 0.00003
NM_152564.5(VPS13B):c.2235G>A (p.Thr745=) rs557250154 0.00003
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly) rs112858205 0.00003
NM_152564.5(VPS13B):c.2322C>T (p.Leu774=) rs376216240 0.00003
NM_152564.5(VPS13B):c.2333+11C>A rs757148916 0.00003
NM_152564.5(VPS13B):c.2628A>G (p.Ile876Met) rs1198845715 0.00003
NM_152564.5(VPS13B):c.2639C>T (p.Ala880Val) rs746799750 0.00003
NM_152564.5(VPS13B):c.2687A>G (p.Gln896Arg) rs1269673113 0.00003
NM_152564.5(VPS13B):c.2808C>T (p.Asp936=) rs377174760 0.00003
NM_152564.5(VPS13B):c.2925T>C (p.His975=) rs535722018 0.00003
NM_152564.5(VPS13B):c.2935-4C>T rs207469601 0.00003
NM_152564.5(VPS13B):c.2999T>C (p.Ile1000Thr) rs149970869 0.00003
NM_152564.5(VPS13B):c.3074C>T (p.Thr1025Met) rs750709127 0.00003
NM_152564.5(VPS13B):c.3089G>A (p.Arg1030His) rs182764947 0.00003
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208 0.00003
NM_152564.5(VPS13B):c.3535A>G (p.Met1179Val) rs764040349 0.00003
NM_152564.5(VPS13B):c.3568C>A (p.Gln1190Lys) rs1819175134 0.00003
NM_152564.5(VPS13B):c.3666+6T>C rs374468508 0.00003
NM_152564.5(VPS13B):c.3843A>G (p.Pro1281=) rs766922292 0.00003
NM_152564.5(VPS13B):c.3870+20C>T rs569308241 0.00003
NM_152564.5(VPS13B):c.3871-8C>T rs371508311 0.00003
NM_152564.5(VPS13B):c.3897A>G (p.Glu1299=) rs139828348 0.00003
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His) rs200229383 0.00003
NM_152564.5(VPS13B):c.4157+5A>G rs201027029 0.00003
NM_152564.5(VPS13B):c.4569T>A (p.Tyr1523Ter) rs1361356353 0.00003
NM_152564.5(VPS13B):c.4663G>T (p.Val1555Phe) rs1822352324 0.00003
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val) rs578203757 0.00003
NM_152564.5(VPS13B):c.4746-3794A>C rs1046269337 0.00003
NM_152564.5(VPS13B):c.4772G>A (p.Arg1591Gln) rs754267693 0.00003
NM_152564.5(VPS13B):c.4949+6_4949+19del rs772683760 0.00003
NM_152564.5(VPS13B):c.4950-29G>A rs773932376 0.00003
NM_152564.5(VPS13B):c.4958G>A (p.Arg1653Gln) rs751699219 0.00003
NM_152564.5(VPS13B):c.5044A>G (p.Lys1682Glu) rs965365158 0.00003
NM_152564.5(VPS13B):c.5072C>G (p.Thr1691Ser) rs966152558 0.00003
NM_152564.5(VPS13B):c.5077-13G>A rs376055963 0.00003
NM_152564.5(VPS13B):c.5270C>T (p.Ala1757Val) rs1055918734 0.00003
NM_152564.5(VPS13B):c.5295T>C (p.Gly1765=) rs139459037 0.00003
NM_152564.5(VPS13B):c.5660A>C (p.Lys1887Thr) rs757219665 0.00003
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr) rs779082817 0.00003
NM_152564.5(VPS13B):c.5667G>A (p.Gly1889=) rs1196457576 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 0.00003
NM_152564.5(VPS13B):c.581-10T>C rs770058631 0.00003
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe) rs759411797 0.00003
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys) rs1226670439 0.00003
NM_152564.5(VPS13B):c.6453T>G (p.Pro2151=) rs536727985 0.00003
NM_152564.5(VPS13B):c.6528C>T (p.Ser2176=) rs752917912 0.00003
NM_152564.5(VPS13B):c.6539T>C (p.Ile2180Thr) rs1037803923 0.00003
NM_152564.5(VPS13B):c.7050+17C>A rs371138843 0.00003
NM_152564.5(VPS13B):c.7051-11T>C rs965488240 0.00003
NM_152564.5(VPS13B):c.7156A>G (p.Ile2386Val) rs370689956 0.00003
NM_152564.5(VPS13B):c.723A>G (p.Thr241=) rs778049327 0.00003
NM_152564.5(VPS13B):c.7248-1G>A rs763079458 0.00003
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=) rs886043216 0.00003
NM_152564.5(VPS13B):c.7319C>T (p.Thr2440Ile) rs777428883 0.00003
NM_152564.5(VPS13B):c.7365C>T (p.Cys2455=) rs748588048 0.00003
NM_152564.5(VPS13B):c.7529G>A (p.Arg2510Gln) rs146092684 0.00003
NM_152564.5(VPS13B):c.7620A>C (p.Gln2540His) rs1333115796 0.00003
NM_152564.5(VPS13B):c.7853G>A (p.Arg2618Gln) rs569563358 0.00003
NM_152564.5(VPS13B):c.796A>G (p.Ile266Val) rs752505325 0.00003
NM_152564.5(VPS13B):c.8011G>A (p.Gly2671Arg) rs568716604 0.00003
NM_152564.5(VPS13B):c.8133C>T (p.Tyr2711=) rs373542052 0.00003
NM_152564.5(VPS13B):c.8161G>A (p.Val2721Ile) rs748674763 0.00003
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00003
NM_152564.5(VPS13B):c.8266C>G (p.Leu2756Val) rs141360806 0.00003
NM_152564.5(VPS13B):c.8361+13G>A rs757732868 0.00003
NM_152564.5(VPS13B):c.8441G>A (p.Arg2814Gln) rs148333124 0.00003
NM_152564.5(VPS13B):c.8446-16C>A rs149769643 0.00003
NM_152564.5(VPS13B):c.8446-20C>A rs777528129 0.00003
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=) rs763701016 0.00003
NM_152564.5(VPS13B):c.857A>G (p.Tyr286Cys) rs753075331 0.00003
NM_152564.5(VPS13B):c.8710G>A (p.Val2904Ile) rs750349908 0.00003
NM_152564.5(VPS13B):c.8793-13G>T rs374758899 0.00003
NM_152564.5(VPS13B):c.886G>A (p.Glu296Lys) rs886062535 0.00003
NM_152564.5(VPS13B):c.90A>G (p.Leu30=) rs771860546 0.00003
NM_152564.5(VPS13B):c.9409C>T (p.Pro3137Ser) rs553756124 0.00003
NM_152564.5(VPS13B):c.9421T>C (p.Leu3141=) rs373968887 0.00003
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=) rs189680814 0.00003
NM_152564.5(VPS13B):c.9615-16C>T rs372202100 0.00003
NM_152564.5(VPS13B):c.9745A>G (p.Ile3249Val) rs1314210823 0.00003
NM_152564.5(VPS13B):c.9827A>G (p.Tyr3276Cys) rs563162284 0.00003
NM_152564.5(VPS13B):c.9850T>G (p.Leu3284Val) rs761596624 0.00003
NM_152564.5(VPS13B):c.9917T>C (p.Ile3306Thr) rs139575184 0.00003
NM_152564.5(VPS13B):c.9942+9G>T rs942110632 0.00003
NM_152564.5(VPS13B):c.9993G>A (p.Gln3331=) rs201746251 0.00003
NM_152564.5(VPS13B):c.99A>G (p.Gly33=) rs775498611 0.00003
NM_017890.5(VPS13B):c.4198G>A (p.Val1400Ile) rs374008116 0.00002
NM_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr) rs144187978 0.00002
NM_152564.5(VPS13B):c.10062-7C>T rs1588785807 0.00002
NM_152564.5(VPS13B):c.10135C>T (p.His3379Tyr) rs377394274 0.00002
NM_152564.5(VPS13B):c.10152T>G (p.Ala3384=) rs374129601 0.00002
NM_152564.5(VPS13B):c.10169C>T (p.Thr3390Ile) rs767783667 0.00002
NM_152564.5(VPS13B):c.10239G>A (p.Ala3413=) rs749865979 0.00002
NM_152564.5(VPS13B):c.10241T>C (p.Leu3414Ser) rs142411465 0.00002
NM_152564.5(VPS13B):c.10401A>G (p.Lys3467=) rs564377243 0.00002
NM_152564.5(VPS13B):c.10448C>T (p.Thr3483Ile) rs367609176 0.00002
NM_152564.5(VPS13B):c.10527A>G (p.Glu3509=) rs113120767 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.1079del (p.Asp360fs) rs767518464 0.00002
NM_152564.5(VPS13B):c.10868-9G>T rs1418679308 0.00002
NM_152564.5(VPS13B):c.10878T>C (p.Val3626=) rs1334951450 0.00002
NM_152564.5(VPS13B):c.10941C>T (p.Ala3647=) rs781760595 0.00002
NM_152564.5(VPS13B):c.10942G>A (p.Asp3648Asn) rs748727467 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.1108G>C (p.Asp370His) rs748531719 0.00002
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp) rs560723051 0.00002
NM_152564.5(VPS13B):c.11218G>A (p.Ala3740Thr) rs749392832 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.11362G>A (p.Ala3788Thr) rs780860991 0.00002
NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg) rs549702100 0.00002
NM_152564.5(VPS13B):c.11495+10T>C rs1250469602 0.00002
NM_152564.5(VPS13B):c.11523A>T (p.Pro3841=) rs755978513 0.00002
NM_152564.5(VPS13B):c.11583G>T (p.Gly3861=) rs1458677528 0.00002
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=) rs368092348 0.00002
NM_152564.5(VPS13B):c.11691G>C (p.Gln3897His) rs371985144 0.00002
NM_152564.5(VPS13B):c.11709G>A (p.Val3903=) rs1206063860 0.00002
NM_152564.5(VPS13B):c.11715C>A (p.Leu3905=) rs755448442 0.00002
NM_152564.5(VPS13B):c.11757C>T (p.Val3919=) rs757616720 0.00002
NM_152564.5(VPS13B):c.11877A>C (p.Glu3959Asp) rs774988681 0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met) rs753703762 0.00002
NM_152564.5(VPS13B):c.1206+17G>A rs1490266167 0.00002
NM_152564.5(VPS13B):c.1303-10C>T rs748144840 0.00002
NM_152564.5(VPS13B):c.1303-12T>G rs776676353 0.00002
NM_152564.5(VPS13B):c.1357A>G (p.Arg453Gly) rs767057004 0.00002
NM_152564.5(VPS13B):c.1425+8C>T rs758851977 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152564.5(VPS13B):c.1531G>A (p.Ala511Thr) rs368241718 0.00002
NM_152564.5(VPS13B):c.1554T>C (p.Thr518=) rs139849251 0.00002
NM_152564.5(VPS13B):c.1735A>G (p.Ile579Val) rs750419805 0.00002
NM_152564.5(VPS13B):c.1776T>C (p.His592=) rs756818683 0.00002
NM_152564.5(VPS13B):c.1888G>A (p.Ala630Thr) rs768721417 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.1934T>A (p.Leu645His) rs762365698 0.00002
NM_152564.5(VPS13B):c.203A>G (p.His68Arg) rs368511311 0.00002
NM_152564.5(VPS13B):c.2208+14A>G rs745575182 0.00002
NM_152564.5(VPS13B):c.2208+20T>C rs1396217310 0.00002
NM_152564.5(VPS13B):c.2243A>G (p.Asp748Gly) rs145988999 0.00002
NM_152564.5(VPS13B):c.2272C>G (p.Pro758Ala) rs1483935385 0.00002
NM_152564.5(VPS13B):c.2291G>T (p.Ser764Ile) rs1410139713 0.00002
NM_152564.5(VPS13B):c.2333+5G>A rs369096824 0.00002
NM_152564.5(VPS13B):c.2334-3C>T rs749105779 0.00002
NM_152564.5(VPS13B):c.2336C>T (p.Thr779Ile) rs1290255264 0.00002
NM_152564.5(VPS13B):c.2419C>G (p.Leu807Val) rs780214074 0.00002
NM_152564.5(VPS13B):c.2515+18T>C rs370998018 0.00002
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530 0.00002
NM_152564.5(VPS13B):c.2561A>G (p.Gln854Arg) rs936610679 0.00002
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=) rs199868590 0.00002
NM_152564.5(VPS13B):c.2650+15A>G rs545826524 0.00002
NM_152564.5(VPS13B):c.2650+18G>A rs1303442103 0.00002
NM_152564.5(VPS13B):c.2667G>T (p.Glu889Asp) rs369849286 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.291+8A>G rs754862945 0.00002
NM_152564.5(VPS13B):c.2935-8C>G rs762645139 0.00002
NM_152564.5(VPS13B):c.2970T>C (p.Val990=) rs747512217 0.00002
NM_152564.5(VPS13B):c.3094T>C (p.Leu1032=) rs373538168 0.00002
NM_152564.5(VPS13B):c.3162G>A (p.Lys1054=) rs776213275 0.00002
NM_152564.5(VPS13B):c.3333G>A (p.Pro1111=) rs367791771 0.00002
NM_152564.5(VPS13B):c.3465G>A (p.Thr1155=) rs779726673 0.00002
NM_152564.5(VPS13B):c.3490T>C (p.Tyr1164His) rs756723356 0.00002
NM_152564.5(VPS13B):c.3533C>G (p.Pro1178Arg) rs1391680745 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.3673C>G (p.Leu1225Val) rs1343599639 0.00002
NM_152564.5(VPS13B):c.3692A>G (p.Asp1231Gly) rs1289522615 0.00002
NM_152564.5(VPS13B):c.3714C>T (p.Asn1238=) rs749086106 0.00002
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val) rs562686924 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.4045G>T (p.Val1349Phe) rs780981868 0.00002
NM_152564.5(VPS13B):c.4224+560C>T rs368951087 0.00002
NM_152564.5(VPS13B):c.4224+620_4224+622del rs758324072 0.00002
NM_152564.5(VPS13B):c.4225-10T>C rs758652475 0.00002
NM_152564.5(VPS13B):c.453A>G (p.Val151=) rs148436198 0.00002
NM_152564.5(VPS13B):c.4570G>T (p.Val1524Phe) rs200774003 0.00002
NM_152564.5(VPS13B):c.4746-17T>C rs753224515 0.00002
NM_152564.5(VPS13B):c.4777C>A (p.Pro1593Thr) rs954564707 0.00002
NM_152564.5(VPS13B):c.4779T>C (p.Pro1593=) rs764443970 0.00002
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=) rs765924507 0.00002
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln) rs138148013 0.00002
NM_152564.5(VPS13B):c.5120C>T (p.Thr1707Ile) rs1430604594 0.00002
NM_152564.5(VPS13B):c.5221A>T (p.Ile1741Phe) rs571859887 0.00002
NM_152564.5(VPS13B):c.5235A>C (p.Glu1745Asp) rs751179813 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs) rs763909903 0.00002
NM_152564.5(VPS13B):c.5395C>T (p.Arg1799Cys) rs751912986 0.00002
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) rs755227174 0.00002
NM_152564.5(VPS13B):c.5463C>A (p.Ile1821=) rs749201575 0.00002
NM_152564.5(VPS13B):c.5740C>T (p.Arg1914Trp) rs141608582 0.00002
NM_152564.5(VPS13B):c.5781G>T (p.Glu1927Asp) rs1479745735 0.00002
NM_152564.5(VPS13B):c.5849T>C (p.Val1950Ala) rs775907223 0.00002
NM_152564.5(VPS13B):c.5850G>A (p.Val1950=) rs747547095 0.00002
NM_152564.5(VPS13B):c.5921C>T (p.Thr1974Ile) rs201494346 0.00002
NM_152564.5(VPS13B):c.6031T>G (p.Phe2011Val) rs534890892 0.00002
NM_152564.5(VPS13B):c.6179T>C (p.Met2060Thr) rs1332369687 0.00002
NM_152564.5(VPS13B):c.6229C>T (p.Arg2077Cys) rs780180063 0.00002
NM_152564.5(VPS13B):c.6455-13A>G rs1832959231 0.00002
NM_152564.5(VPS13B):c.6455-17C>A rs777501514 0.00002
NM_152564.5(VPS13B):c.6507A>C (p.Lys2169Asn) rs1367000031 0.00002
NM_152564.5(VPS13B):c.6719A>T (p.Tyr2240Phe) rs762982977 0.00002
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=) rs760171272 0.00002
NM_152564.5(VPS13B):c.690C>T (p.Tyr230=) rs553150517 0.00002
NM_152564.5(VPS13B):c.6954A>G (p.Glu2318=) rs745811385 0.00002
NM_152564.5(VPS13B):c.69G>A (p.Pro23=) rs570877761 0.00002
NM_152564.5(VPS13B):c.7088A>G (p.Lys2363Arg) rs778935189 0.00002
NM_152564.5(VPS13B):c.7245A>G (p.Gln2415=) rs781046978 0.00002
NM_152564.5(VPS13B):c.725A>T (p.Tyr242Phe) rs749404997 0.00002
NM_152564.5(VPS13B):c.732C>T (p.Asn244=) rs774354165 0.00002
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=) rs913138802 0.00002
NM_152564.5(VPS13B):c.7579G>A (p.Ala2527Thr) rs369062407 0.00002
NM_152564.5(VPS13B):c.7645T>C (p.Phe2549Leu) rs377498258 0.00002
NM_152564.5(VPS13B):c.7648G>A (p.Gly2550Arg) rs780332587 0.00002
NM_152564.5(VPS13B):c.7659A>C (p.Ala2553=) rs776995646 0.00002
NM_152564.5(VPS13B):c.7698C>T (p.Thr2566=) rs750908734 0.00002
NM_152564.5(VPS13B):c.7893G>A (p.Ala2631=) rs145460276 0.00002
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His) rs398124338 0.00002
NM_152564.5(VPS13B):c.7942-13T>G rs761317351 0.00002
NM_152564.5(VPS13B):c.8040G>C (p.Arg2680Ser) rs145899918 0.00002
NM_152564.5(VPS13B):c.8049T>C (p.Thr2683=) rs765550072 0.00002
NM_152564.5(VPS13B):c.8087T>C (p.Val2696Ala) rs755015601 0.00002
NM_152564.5(VPS13B):c.812T>G (p.Leu271Arg) rs1356879564 0.00002
NM_152564.5(VPS13B):c.8200C>T (p.Arg2734Trp) rs749023338 0.00002
NM_152564.5(VPS13B):c.8202G>C (p.Arg2734=) rs759728712 0.00002
NM_152564.5(VPS13B):c.8381C>A (p.Ser2794Tyr) rs146553331 0.00002
NM_152564.5(VPS13B):c.8445+50del rs761647040 0.00002
NM_152564.5(VPS13B):c.8639C>T (p.Ser2880Leu) rs760166376 0.00002
NM_152564.5(VPS13B):c.8645G>T (p.Cys2882Phe) rs954722328 0.00002
NM_152564.5(VPS13B):c.865A>G (p.Ile289Val) rs943316620 0.00002
NM_152564.5(VPS13B):c.8793-16G>A rs1454120026 0.00002
NM_152564.5(VPS13B):c.8793-4A>T rs1158582777 0.00002
NM_152564.5(VPS13B):c.8828G>A (p.Arg2943Gln) rs777528760 0.00002
NM_152564.5(VPS13B):c.8926C>T (p.Leu2976=) rs1814275656 0.00002
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=) rs753530965 0.00002
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu) rs146883974 0.00002
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr) rs748030120 0.00002
NM_152564.5(VPS13B):c.9330+17G>A rs375248298 0.00002
NM_152564.5(VPS13B):c.9371C>G (p.Pro3124Arg) rs1265992509 0.00002
NM_152564.5(VPS13B):c.9391A>G (p.Met3131Val) rs1241294111 0.00002
NM_152564.5(VPS13B):c.9391_9396dup (p.Met3131_Lys3132dup) rs747778859 0.00002
NM_152564.5(VPS13B):c.9400A>G (p.Ser3134Gly) rs138889735 0.00002
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) rs1044976516 0.00002
NM_152564.5(VPS13B):c.9582C>T (p.Leu3194=) rs757859930 0.00002
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg) rs772658121 0.00002
NM_152564.5(VPS13B):c.9588T>C (p.Asn3196=) rs761906678 0.00002
NM_152564.5(VPS13B):c.9609T>C (p.Cys3203=) rs533207610 0.00002
NM_152564.5(VPS13B):c.9742+10A>G rs755760611 0.00002
NM_152564.5(VPS13B):c.9742+2dup rs770968105 0.00002
NM_152564.5(VPS13B):c.9780C>T (p.Pro3260=) rs781671301 0.00002
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys) rs756531043 0.00002
NM_152564.5(VPS13B):c.9788G>A (p.Cys3263Tyr) rs749573516 0.00002
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=) rs1397608904 0.00002
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=) rs775601813 0.00002
NM_017890.5(VPS13B):c.4170G>A (p.Glu1390=) rs898324828 0.00001
NM_017890.5(VPS13B):c.4180T>C (p.Leu1394=) rs1246500568 0.00001
NM_017890.5(VPS13B):c.4181T>C (p.Leu1394Ser) rs1478521969 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4188A>G (p.Gln1396=) rs768432188 0.00001
NM_017890.5(VPS13B):c.4195G>A (p.Gly1399Ser) rs776321717 0.00001
NM_017890.5(VPS13B):c.4218C>T (p.Asp1406=) rs1227316936 0.00001
NM_017890.5(VPS13B):c.4232G>A (p.Arg1411His) rs1821581494 0.00001
NM_017890.5(VPS13B):c.4233C>T (p.Arg1411=) rs949322913 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_017890.5(VPS13B):c.4243G>C (p.Val1415Leu) rs1216652778 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_017890.5(VPS13B):c.4268C>A (p.Pro1423His) rs568192794 0.00001
NM_017890.5(VPS13B):c.4281C>T (p.Cys1427=) rs1563767252 0.00001
NM_152564.5(VPS13B):c.*1037C>A rs1246944981 0.00001
NM_152564.5(VPS13B):c.*1239C>T rs1817725052 0.00001
NM_152564.5(VPS13B):c.*438C>T rs1412435648 0.00001
NM_152564.5(VPS13B):c.*665T>C rs1326591170 0.00001
NM_152564.5(VPS13B):c.*733A>T rs886062555 0.00001
NM_152564.5(VPS13B):c.10023A>G (p.Pro3341=) rs767423737 0.00001
NM_152564.5(VPS13B):c.10030A>G (p.Lys3344Glu) rs764622697 0.00001
NM_152564.5(VPS13B):c.10039C>T (p.Pro3347Ser) rs1816115151 0.00001
NM_152564.5(VPS13B):c.10042A>G (p.Ile3348Val) rs777046028 0.00001
NM_152564.5(VPS13B):c.10047A>G (p.Leu3349=) rs1816115503 0.00001
NM_152564.5(VPS13B):c.10061+1G>A rs1200459145 0.00001
NM_152564.5(VPS13B):c.10062-13C>G rs773907481 0.00001
NM_152564.5(VPS13B):c.10062-15C>T rs749085359 0.00001
NM_152564.5(VPS13B):c.10062-16T>G rs1173588514 0.00001
NM_152564.5(VPS13B):c.10062-6C>T rs745353782 0.00001
NM_152564.5(VPS13B):c.10076T>C (p.Ile3359Thr) rs1036301212 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.10100C>A (p.Thr3367Asn) rs759636784 0.00001
NM_152564.5(VPS13B):c.10103A>G (p.Gln3368Arg) rs377348581 0.00001
NM_152564.5(VPS13B):c.10115C>T (p.Ala3372Val) rs753591072 0.00001
NM_152564.5(VPS13B):c.10116A>G (p.Ala3372=) rs371573594 0.00001
NM_152564.5(VPS13B):c.10119G>A (p.Val3373=) rs1159607522 0.00001
NM_152564.5(VPS13B):c.10132A>T (p.Thr3378Ser) rs770379709 0.00001
NM_152564.5(VPS13B):c.10139A>G (p.His3380Arg) rs896072325 0.00001
NM_152564.5(VPS13B):c.10189del (p.Cys3397fs) rs777336157 0.00001
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu) rs368041601 0.00001
NM_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu) rs779782582 0.00001
NM_152564.5(VPS13B):c.10221G>C (p.Gly3407=) rs746473073 0.00001
NM_152564.5(VPS13B):c.10224A>T (p.Glu3408Asp) rs1424195641 0.00001
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser) rs79324124 0.00001
NM_152564.5(VPS13B):c.10238C>T (p.Ala3413Val) rs930006569 0.00001
NM_152564.5(VPS13B):c.10247A>G (p.Glu3416Gly) rs772136458 0.00001
NM_152564.5(VPS13B):c.1027C>G (p.Gln343Glu) rs1554625632 0.00001
NM_152564.5(VPS13B):c.10299T>C (p.Leu3433=) rs758239773 0.00001
NM_152564.5(VPS13B):c.102C>G (p.Asp34Glu) rs1428137006 0.00001
NM_152564.5(VPS13B):c.10320C>G (p.His3440Gln) rs747699484 0.00001
NM_152564.5(VPS13B):c.10324G>A (p.Ala3442Thr) rs1816408668 0.00001
NM_152564.5(VPS13B):c.1032A>G (p.Gly344=) rs1847920874 0.00001
NM_152564.5(VPS13B):c.10335C>T (p.Val3445=) rs575624046 0.00001
NM_152564.5(VPS13B):c.10359C>A (p.Pro3453=) rs1444426292 0.00001
NM_152564.5(VPS13B):c.10376T>C (p.Met3459Thr) rs768868798 0.00001
NM_152564.5(VPS13B):c.10382G>C (p.Ser3461Thr) rs1816412271 0.00001
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe) rs761972356 0.00001
NM_152564.5(VPS13B):c.10405T>C (p.Leu3469=) rs762637042 0.00001
NM_152564.5(VPS13B):c.10410A>G (p.Glu3470=) rs751254612 0.00001
NM_152564.5(VPS13B):c.10442G>T (p.Cys3481Phe) rs1563509900 0.00001
NM_152564.5(VPS13B):c.10444A>G (p.Ile3482Val) rs1196019519 0.00001
NM_152564.5(VPS13B):c.10470C>A (p.Ile3490=) rs372875604 0.00001
NM_152564.5(VPS13B):c.10473C>G (p.Leu3491=) rs1302374134 0.00001
NM_152564.5(VPS13B):c.10506A>G (p.Lys3502=) rs1373791263 0.00001
NM_152564.5(VPS13B):c.10508C>A (p.Pro3503His) rs773013716 0.00001
NM_152564.5(VPS13B):c.10513C>T (p.Arg3505Trp) rs763017122 0.00001
NM_152564.5(VPS13B):c.10518A>T (p.Leu3506Phe) rs759427770 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.10578C>G (p.Asn3526Lys) rs148265212 0.00001
NM_152564.5(VPS13B):c.10663G>A (p.Val3555Met) rs745866775 0.00001
NM_152564.5(VPS13B):c.1066A>G (p.Ile356Val) rs1020906206 0.00001
NM_152564.5(VPS13B):c.10681C>T (p.Arg3561Trp) rs200232124 0.00001
NM_152564.5(VPS13B):c.10699C>A (p.Pro3567Thr) rs759972908 0.00001
NM_152564.5(VPS13B):c.10703T>C (p.Val3568Ala) rs376964635 0.00001
NM_152564.5(VPS13B):c.10710G>T (p.Leu3570Phe) rs753058180 0.00001
NM_152564.5(VPS13B):c.10719C>T (p.Ser3573=) rs888814815 0.00001
NM_152564.5(VPS13B):c.10722C>G (p.Ile3574Met) rs1303747895 0.00001
NM_152564.5(VPS13B):c.10764T>C (p.Pro3588=) rs1477900241 0.00001
NM_152564.5(VPS13B):c.10765C>T (p.Leu3589Phe) rs551114360 0.00001
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=) rs547516730 0.00001
NM_152564.5(VPS13B):c.1077T>C (p.Tyr359=) rs541332942 0.00001
NM_152564.5(VPS13B):c.10795A>G (p.Ile3599Val) rs1225418115 0.00001
NM_152564.5(VPS13B):c.10797C>T (p.Ile3599=) rs769445328 0.00001
NM_152564.5(VPS13B):c.1081G>A (p.Asp361Asn) rs749019850 0.00001
NM_152564.5(VPS13B):c.10825G>A (p.Ala3609Thr) rs769606496 0.00001
NM_152564.5(VPS13B):c.10828C>T (p.Leu3610=) rs1265301398 0.00001
NM_152564.5(VPS13B):c.10852G>A (p.Ala3618Thr) rs373605057 0.00001
NM_152564.5(VPS13B):c.10857T>C (p.Leu3619=) rs183080498 0.00001
NM_152564.5(VPS13B):c.10867+10C>T rs1239193804 0.00001
NM_152564.5(VPS13B):c.10867+1G>A rs780902262 0.00001
NM_152564.5(VPS13B):c.10867+7A>G rs1378858300 0.00001
NM_152564.5(VPS13B):c.1086C>T (p.Gly362=) rs745399153 0.00001
NM_152564.5(VPS13B):c.10873G>T (p.Val3625Leu) rs777314496 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.10908A>C (p.Ala3636=) rs1191575037 0.00001
NM_152564.5(VPS13B):c.10924A>G (p.Ile3642Val) rs148582416 0.00001
NM_152564.5(VPS13B):c.10926C>A (p.Ile3642=) rs753373848 0.00001
NM_152564.5(VPS13B):c.10927G>A (p.Gly3643Arg) rs778657622 0.00001
NM_152564.5(VPS13B):c.10933G>A (p.Gly3645Arg) rs61754108 0.00001
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=) rs758028194 0.00001
NM_152564.5(VPS13B):c.10950C>T (p.Phe3650=) rs773394643 0.00001
NM_152564.5(VPS13B):c.10958C>T (p.Pro3653Leu) rs749689354 0.00001
NM_152564.5(VPS13B):c.10974C>G (p.Thr3658=) rs375117356 0.00001
NM_152564.5(VPS13B):c.10976G>A (p.Arg3659Gln) rs370507425 0.00001
NM_152564.5(VPS13B):c.10977G>A (p.Arg3659=) rs1374692917 0.00001
NM_152564.5(VPS13B):c.10978G>A (p.Gly3660Ser) rs373947421 0.00001
NM_152564.5(VPS13B):c.1097T>C (p.Phe366Ser) rs543010361 0.00001
NM_152564.5(VPS13B):c.11002G>A (p.Val3668Ile) rs746534351 0.00001
NM_152564.5(VPS13B):c.11022G>A (p.Ser3674=) rs375676564 0.00001
NM_152564.5(VPS13B):c.11030A>C (p.Lys3677Thr) rs772287232 0.00001
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=) rs199748413 0.00001
NM_152564.5(VPS13B):c.11044+12C>T rs1588794469 0.00001
NM_152564.5(VPS13B):c.11044+20G>C rs1444976203 0.00001
NM_152564.5(VPS13B):c.11044+6G>A rs369477759 0.00001
NM_152564.5(VPS13B):c.11045-10G>T rs769628992 0.00001
NM_152564.5(VPS13B):c.11045-6C>T rs1250558576 0.00001
NM_152564.5(VPS13B):c.11046T>A (p.Gly3682=) rs1178600682 0.00001
NM_152564.5(VPS13B):c.11047A>G (p.Thr3683Ala) rs1253597480 0.00001
NM_152564.5(VPS13B):c.11055A>G (p.Thr3685=) rs2130941627 0.00001
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=) rs185477101 0.00001
NM_152564.5(VPS13B):c.1107C>T (p.Asn369=) rs777015545 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 0.00001
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs) rs386834059 0.00001
NM_152564.5(VPS13B):c.11115G>A (p.Glu3705=) rs1816853385 0.00001
NM_152564.5(VPS13B):c.11131C>T (p.Gln3711Ter) rs1451352816 0.00001
NM_152564.5(VPS13B):c.11143C>T (p.Arg3715Trp) rs772640414 0.00001
NM_152564.5(VPS13B):c.11157C>T (p.Pro3719=) rs774143549 0.00001
NM_152564.5(VPS13B):c.1116A>G (p.Ala372=) rs2132516415 0.00001
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln) rs913075497 0.00001
NM_152564.5(VPS13B):c.11181_11215+10del rs1437851867 0.00001
NM_152564.5(VPS13B):c.11188C>T (p.Leu3730=) rs201448515 0.00001
NM_152564.5(VPS13B):c.1118C>T (p.Ser373Leu) rs773391550 0.00001
NM_152564.5(VPS13B):c.11194C>T (p.Arg3732Trp) rs1348080384 0.00001
NM_152564.5(VPS13B):c.11196G>T (p.Arg3732=) rs1284354271 0.00001
NM_152564.5(VPS13B):c.11197C>A (p.Leu3733Met) rs1318142770 0.00001
NM_152564.5(VPS13B):c.11199G>A (p.Leu3733=) rs1212396486 0.00001
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=) rs766658666 0.00001
NM_152564.5(VPS13B):c.11205C>G (p.Ile3735Met) rs1359351082 0.00001
NM_152564.5(VPS13B):c.11215+8G>T rs1285906381 0.00001
NM_152564.5(VPS13B):c.11216-1G>C rs1057517441 0.00001
NM_152564.5(VPS13B):c.11216-3C>G rs777933862 0.00001
NM_152564.5(VPS13B):c.11223T>G (p.Ile3741Met) rs267601674 0.00001
NM_152564.5(VPS13B):c.1127A>G (p.His376Arg) rs1209759817 0.00001
NM_152564.5(VPS13B):c.11284G>A (p.Ala3762Thr) rs1407104363 0.00001
NM_152564.5(VPS13B):c.1128T>C (p.His376=) rs1847924916 0.00001
NM_152564.5(VPS13B):c.11292C>T (p.His3764=) rs1318635834 0.00001
NM_152564.5(VPS13B):c.11302G>C (p.Gly3768Arg) rs760922656 0.00001
NM_152564.5(VPS13B):c.11317G>A (p.Val3773Met) rs145970185 0.00001
NM_152564.5(VPS13B):c.11325A>G (p.Lys3775=) rs1817211481 0.00001
NM_152564.5(VPS13B):c.11355C>T (p.Ile3785=) rs865965849 0.00001
NM_152564.5(VPS13B):c.11364del (p.Ala3789fs) rs1485428182 0.00001
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=) rs1847925535 0.00001
NM_152564.5(VPS13B):c.11381A>G (p.Gln3794Arg) rs1172665875 0.00001
NM_152564.5(VPS13B):c.11392+17C>G rs775949318 0.00001
NM_152564.5(VPS13B):c.11392+7C>T rs759898701 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.11403T>C (p.His3801=) rs769209653 0.00001
NM_152564.5(VPS13B):c.1141C>T (p.Gln381Ter) rs774376104 0.00001
NM_152564.5(VPS13B):c.11435G>A (p.Arg3812His) rs529932207 0.00001
NM_152564.5(VPS13B):c.11442G>A (p.Gln3814=) rs1249346975 0.00001
NM_152564.5(VPS13B):c.11457T>C (p.His3819=) rs763130797 0.00001
NM_152564.5(VPS13B):c.11461G>A (p.Asp3821Asn) rs2492368551 0.00001
NM_152564.5(VPS13B):c.11471C>T (p.Pro3824Leu) rs75996587 0.00001
NM_152564.5(VPS13B):c.11478C>T (p.Ser3826=) rs1817369641 0.00001
NM_152564.5(VPS13B):c.11489A>G (p.Tyr3830Cys) rs1354835040 0.00001
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile) rs752506829 0.00001
NM_152564.5(VPS13B):c.11493C>T (p.Val3831=) rs1406602437 0.00001
NM_152564.5(VPS13B):c.11495+7_11495+8del rs1588810879 0.00001
NM_152564.5(VPS13B):c.114C>T (p.Ser38=) rs768496696 0.00001
NM_152564.5(VPS13B):c.11501del (p.Met3834fs) rs1394681818 0.00001
NM_152564.5(VPS13B):c.11518A>C (p.Arg3840=) rs1343441630 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.11542G>C (p.Asp3848His) rs558917637 0.00001
NM_152564.5(VPS13B):c.11545G>A (p.Val3849Met) rs781773703 0.00001
NM_152564.5(VPS13B):c.11577T>C (p.His3859=) rs771158927 0.00001
NM_152564.5(VPS13B):c.11602G>T (p.Glu3868Ter) rs1817415840 0.00001
NM_152564.5(VPS13B):c.11622T>C (p.Ser3874=) rs1429011710 0.00001
NM_152564.5(VPS13B):c.11623G>A (p.Val3875Ile) rs765012695 0.00001
NM_152564.5(VPS13B):c.11644C>G (p.Gln3882Glu) rs1322613165 0.00001
NM_152564.5(VPS13B):c.11649C>G (p.Ala3883=) rs781535467 0.00001
NM_152564.5(VPS13B):c.11653C>T (p.Pro3885Ser) rs1272962312 0.00001
NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=) rs749637946 0.00001
NM_152564.5(VPS13B):c.11679G>A (p.Gln3893=) rs779149986 0.00001
NM_152564.5(VPS13B):c.11690A>G (p.Gln3897Arg) rs745928856 0.00001
NM_152564.5(VPS13B):c.11706A>G (p.Thr3902=) rs532340798 0.00001
NM_152564.5(VPS13B):c.11718G>A (p.Lys3906=) rs764961174 0.00001
NM_152564.5(VPS13B):c.11732C>T (p.Ala3911Val) rs978197543 0.00001
NM_152564.5(VPS13B):c.11733C>T (p.Ala3911=) rs905155393 0.00001
NM_152564.5(VPS13B):c.11739T>C (p.Asp3913=) rs1308209423 0.00001
NM_152564.5(VPS13B):c.11745+13A>G rs756596264 0.00001
NM_152564.5(VPS13B):c.11745+4C>T rs751045565 0.00001
NM_152564.5(VPS13B):c.11746-11T>C rs947865858 0.00001
NM_152564.5(VPS13B):c.11746-18_11746-15dup rs1256678355 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_152564.5(VPS13B):c.11746-3T>C rs759013203 0.00001
NM_152564.5(VPS13B):c.11750A>T (p.Asp3917Val) rs754404502 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152564.5(VPS13B):c.11769G>A (p.Leu3923=) rs750806587 0.00001
NM_152564.5(VPS13B):c.11778A>G (p.Gln3926=) rs1268189420 0.00001
NM_152564.5(VPS13B):c.11802C>T (p.Tyr3934=) rs1302197053 0.00001
NM_152564.5(VPS13B):c.11809A>G (p.Lys3937Glu) rs755070874 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.11889C>T (p.Ser3963=) rs781360672 0.00001
NM_152564.5(VPS13B):c.1189G>T (p.Ala397Ser) rs763839770 0.00001
NM_152564.5(VPS13B):c.11904C>T (p.Tyr3968=) rs1817662607 0.00001
NM_152564.5(VPS13B):c.11906A>C (p.His3969Pro) rs902783600 0.00001
NM_152564.5(VPS13B):c.11947A>G (p.Lys3983Glu) rs1168148534 0.00001
NM_152564.5(VPS13B):c.11949A>G (p.Lys3983=) rs745447477 0.00001
NM_152564.5(VPS13B):c.11956del (p.Met3986fs) rs1817664776 0.00001
NM_152564.5(VPS13B):c.11973C>T (p.Ala3991=) rs533954733 0.00001
NM_152564.5(VPS13B):c.11979G>A (p.Arg3993=) rs1473789383 0.00001
NM_152564.5(VPS13B):c.11993G>A (p.Ter3998=) rs773765592 0.00001
NM_152564.5(VPS13B):c.1206+11T>G rs1847928596 0.00001
NM_152564.5(VPS13B):c.1206+6T>A rs778709502 0.00001
NM_152564.5(VPS13B):c.1206+8T>G rs889247005 0.00001
NM_152564.5(VPS13B):c.1206A>G (p.Lys402=) rs1847928125 0.00001
NM_152564.5(VPS13B):c.1207-10T>C rs1293563176 0.00001
NM_152564.5(VPS13B):c.1221A>C (p.Gln407His) rs1269344604 0.00001
NM_152564.5(VPS13B):c.1244C>T (p.Pro415Leu) rs1809977565 0.00001
NM_152564.5(VPS13B):c.1291A>G (p.Thr431Ala) rs760810471 0.00001
NM_152564.5(VPS13B):c.1302+11A>T rs762463755 0.00001
NM_152564.5(VPS13B):c.1302+14A>G rs750969500 0.00001
NM_152564.5(VPS13B):c.1302+2dup rs766708621 0.00001
NM_152564.5(VPS13B):c.1303-15C>T rs768921663 0.00001
NM_152564.5(VPS13B):c.1343G>A (p.Gly448Glu) rs774113287 0.00001
NM_152564.5(VPS13B):c.1344G>T (p.Gly448=) rs1395837319 0.00001
NM_152564.5(VPS13B):c.1382T>C (p.Met461Thr) rs754324907 0.00001
NM_152564.5(VPS13B):c.1391A>C (p.Lys464Thr) rs1431957435 0.00001
NM_152564.5(VPS13B):c.1412A>G (p.Asn471Ser) rs1810007360 0.00001
NM_152564.5(VPS13B):c.1425+14C>T rs1336315374 0.00001
NM_152564.5(VPS13B):c.1426-14G>A rs767183587 0.00001
NM_152564.5(VPS13B):c.1429G>T (p.Ala477Ser) rs1272904056 0.00001
NM_152564.5(VPS13B):c.142G>T (p.Glu48Ter) rs533575514 0.00001
NM_152564.5(VPS13B):c.147+19_147+20del rs750733971 0.00001
NM_152564.5(VPS13B):c.147+1G>A rs1057517029 0.00001
NM_152564.5(VPS13B):c.147+3A>G rs772550162 0.00001
NM_152564.5(VPS13B):c.148-10G>A rs779842255 0.00001
NM_152564.5(VPS13B):c.149A>C (p.Glu50Ala) rs1432079296 0.00001
NM_152564.5(VPS13B):c.1520A>G (p.Asn507Ser) rs749312835 0.00001
NM_152564.5(VPS13B):c.1553C>T (p.Thr518Ile) rs751932917 0.00001
NM_152564.5(VPS13B):c.1563+10T>C rs777964709 0.00001
NM_152564.5(VPS13B):c.1563+13A>G rs1448919646 0.00001
NM_152564.5(VPS13B):c.1564-3C>T rs753911390 0.00001
NM_152564.5(VPS13B):c.1586G>A (p.Gly529Glu) rs750429731 0.00001
NM_152564.5(VPS13B):c.1593A>G (p.Gln531=) rs1435002712 0.00001
NM_152564.5(VPS13B):c.1596G>T (p.Arg532=) rs140746659 0.00001
NM_152564.5(VPS13B):c.1602G>A (p.Gly534=) rs1266552493 0.00001
NM_152564.5(VPS13B):c.1602G>T (p.Gly534=) rs1266552493 0.00001
NM_152564.5(VPS13B):c.1603G>A (p.Ala535Thr) rs1350243430 0.00001
NM_152564.5(VPS13B):c.1612A>G (p.Met538Val) rs1478296228 0.00001
NM_152564.5(VPS13B):c.1615G>A (p.Asp539Asn) rs774992590 0.00001
NM_152564.5(VPS13B):c.1623G>C (p.Leu541=) rs1193051483 0.00001
NM_152564.5(VPS13B):c.1629A>G (p.Thr543=) rs760975110 0.00001
NM_152564.5(VPS13B):c.162A>G (p.Pro54=) rs747961838 0.00001
NM_152564.5(VPS13B):c.1642A>G (p.Ser548Gly) rs1372588907 0.00001
NM_152564.5(VPS13B):c.1646G>A (p.Gly549Asp) rs886062536 0.00001
NM_152564.5(VPS13B):c.1652-19A>G rs1439202104 0.00001
NM_152564.5(VPS13B):c.1652-7C>A rs2132580880 0.00001
NM_152564.5(VPS13B):c.1662T>C (p.Asn554=) rs2488785957 0.00001
NM_152564.5(VPS13B):c.1668A>T (p.Gln556His) rs756072319 0.00001
NM_152564.5(VPS13B):c.1696T>C (p.Leu566=) rs767273023 0.00001
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=) rs1233669833 0.00001
NM_152564.5(VPS13B):c.1704A>T (p.Thr568=) rs190009435 0.00001
NM_152564.5(VPS13B):c.1712A>G (p.Glu571Gly) rs944921965 0.00001
NM_152564.5(VPS13B):c.1753C>T (p.Arg585Cys) rs769956475 0.00001
NM_152564.5(VPS13B):c.1771G>A (p.Val591Met) rs372593334 0.00001
NM_152564.5(VPS13B):c.1772T>C (p.Val591Ala) rs753616467 0.00001
NM_152564.5(VPS13B):c.1773G>A (p.Val591=) rs1392301831 0.00001
NM_152564.5(VPS13B):c.1779G>A (p.Arg593=) rs1810520439 0.00001
NM_152564.5(VPS13B):c.1823C>T (p.Pro608Leu) rs2132581494 0.00001
NM_152564.5(VPS13B):c.1844-16A>G rs1225726544 0.00001
NM_152564.5(VPS13B):c.1871T>G (p.Leu624Arg) rs1424011867 0.00001
NM_152564.5(VPS13B):c.1887G>A (p.Val629=) rs138291421 0.00001
NM_152564.5(VPS13B):c.1907T>G (p.Ile636Ser) rs1209495278 0.00001
NM_152564.5(VPS13B):c.1921A>G (p.Thr641Ala) rs891182271 0.00001
NM_152564.5(VPS13B):c.1953A>G (p.Thr651=) rs756544361 0.00001
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu) rs886062537 0.00001
NM_152564.5(VPS13B):c.1956T>G (p.Ile652Met) rs904064642 0.00001
NM_152564.5(VPS13B):c.1960A>G (p.Met654Val) rs1408089043 0.00001
NM_152564.5(VPS13B):c.1978C>T (p.Leu660=) rs1334256561 0.00001
NM_152564.5(VPS13B):c.19A>T (p.Thr7Ser) rs1413120643 0.00001
NM_152564.5(VPS13B):c.2006G>A (p.Gly669Glu) rs768668368 0.00001
NM_152564.5(VPS13B):c.2013+17G>A rs1161780601 0.00001
NM_152564.5(VPS13B):c.2014-12A>G rs559491564 0.00001
NM_152564.5(VPS13B):c.2014-19G>A rs945362630 0.00001
NM_152564.5(VPS13B):c.2014-20C>T rs765582455 0.00001
NM_152564.5(VPS13B):c.2037T>C (p.Thr679=) rs1275629837 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2077A>C (p.Ile693Leu) rs1228929542 0.00001
NM_152564.5(VPS13B):c.207A>T (p.Val69=) rs772922484 0.00001
NM_152564.5(VPS13B):c.2103A>G (p.Glu701=) rs1811379551 0.00001
NM_152564.5(VPS13B):c.2109A>C (p.Ser703=) rs1269866492 0.00001
NM_152564.5(VPS13B):c.210A>G (p.Pro70=) rs201517617 0.00001
NM_152564.5(VPS13B):c.2116A>G (p.Met706Val) rs751897986 0.00001
NM_152564.5(VPS13B):c.2160A>G (p.Gln720=) rs1272445028 0.00001
NM_152564.5(VPS13B):c.2172C>T (p.Asn724=) rs1811382748 0.00001
NM_152564.5(VPS13B):c.2175G>A (p.Leu725=) rs1211430808 0.00001
NM_152564.5(VPS13B):c.2178T>C (p.Leu726=) rs1248136901 0.00001
NM_152564.5(VPS13B):c.2180A>G (p.His727Arg) rs1436936380 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.2289C>A (p.Phe763Leu) rs755882379 0.00001
NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala) rs779218452 0.00001
NM_152564.5(VPS13B):c.2330G>A (p.Cys777Tyr) rs900452617 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.2334-19T>G rs911409289 0.00001
NM_152564.5(VPS13B):c.2348A>G (p.Gln783Arg) rs765133430 0.00001
NM_152564.5(VPS13B):c.234A>G (p.Pro78=) rs372597619 0.00001
NM_152564.5(VPS13B):c.2350A>C (p.Ile784Leu) rs370855171 0.00001
NM_152564.5(VPS13B):c.2411A>G (p.Gln804Arg) rs1229393575 0.00001
NM_152564.5(VPS13B):c.2434T>C (p.Tyr812His) rs1258984174 0.00001
NM_152564.5(VPS13B):c.2435A>G (p.Tyr812Cys) rs2488954970 0.00001
NM_152564.5(VPS13B):c.2445G>T (p.Trp815Cys) rs1452649119 0.00001
NM_152564.5(VPS13B):c.2464A>C (p.Ser822Arg) rs1208376209 0.00001
NM_152564.5(VPS13B):c.2475A>G (p.Ala825=) rs1334203745 0.00001
NM_152564.5(VPS13B):c.2498A>G (p.Glu833Gly) rs886841517 0.00001
NM_152564.5(VPS13B):c.2512A>G (p.Ile838Val) rs147924250 0.00001
NM_152564.5(VPS13B):c.2514A>G (p.Ile838Met) rs763636307 0.00001
NM_152564.5(VPS13B):c.2515+15T>C rs964313978 0.00001
NM_152564.5(VPS13B):c.2515+8C>T rs758789053 0.00001
NM_152564.5(VPS13B):c.2516-13T>A rs748544610 0.00001
NM_152564.5(VPS13B):c.2516-3T>A rs377723973 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.2541A>G (p.Pro847=) rs2132994812 0.00001
NM_152564.5(VPS13B):c.2542A>G (p.Thr848Ala) rs745738175 0.00001
NM_152564.5(VPS13B):c.2547T>G (p.Leu849=) rs1315338682 0.00001
NM_152564.5(VPS13B):c.2552G>A (p.Gly851Asp) rs1251819735 0.00001
NM_152564.5(VPS13B):c.256A>G (p.Met86Val) rs1048547943 0.00001
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527 0.00001
NM_152564.5(VPS13B):c.2605G>A (p.Ala869Thr) rs371800257 0.00001
NM_152564.5(VPS13B):c.2609C>T (p.Ser870Phe) rs376044341 0.00001
NM_152564.5(VPS13B):c.2618T>C (p.Met873Thr) rs112259211 0.00001
NM_152564.5(VPS13B):c.2626A>G (p.Ile876Val) rs772082436 0.00001
NM_152564.5(VPS13B):c.2634T>C (p.Ile878=) rs771711465 0.00001
NM_152564.5(VPS13B):c.2646C>G (p.Ala882=) rs369124790 0.00001
NM_152564.5(VPS13B):c.2650+10G>A rs1478294396 0.00001
NM_152564.5(VPS13B):c.2650+14G>A rs762500164 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_152564.5(VPS13B):c.2651-17T>A rs746889754 0.00001
NM_152564.5(VPS13B):c.2673G>T (p.Leu891Phe) rs770484465 0.00001
NM_152564.5(VPS13B):c.2700C>T (p.Asp900=) rs765522219 0.00001
NM_152564.5(VPS13B):c.2724G>A (p.Lys908=) rs1818828251 0.00001
NM_152564.5(VPS13B):c.2733T>C (p.Asn911=) rs1818828803 0.00001
NM_152564.5(VPS13B):c.2738G>T (p.Ser913Ile) rs751622263 0.00001
NM_152564.5(VPS13B):c.2751G>A (p.Glu917=) rs192509060 0.00001
NM_152564.5(VPS13B):c.2764C>T (p.Pro922Ser) rs371120818 0.00001
NM_152564.5(VPS13B):c.2765C>T (p.Pro922Leu) rs1378379268 0.00001
NM_152564.5(VPS13B):c.2785A>G (p.Ile929Val) rs1222718209 0.00001
NM_152564.5(VPS13B):c.2788C>A (p.Gln930Lys) rs372949456 0.00001
NM_152564.5(VPS13B):c.2797C>G (p.Gln933Glu) rs773412105 0.00001
NM_152564.5(VPS13B):c.2817C>A (p.His939Gln) rs773717018 0.00001
NM_152564.5(VPS13B):c.2824+13C>G rs767487445 0.00001
NM_152564.5(VPS13B):c.2824+15A>G rs752632412 0.00001
NM_152564.5(VPS13B):c.2824+18A>C rs756055744 0.00001
NM_152564.5(VPS13B):c.2824+2T>C rs141703746 0.00001
NM_152564.5(VPS13B):c.2824+4A>G rs1464379945 0.00001
NM_152564.5(VPS13B):c.2824+8C>G rs1408160315 0.00001
NM_152564.5(VPS13B):c.2825G>A (p.Gly942Asp) rs765354194 0.00001
NM_152564.5(VPS13B):c.2843G>C (p.Ser948Thr) rs749988222 0.00001
NM_152564.5(VPS13B):c.2853A>C (p.Gly951=) rs374898875 0.00001
NM_152564.5(VPS13B):c.2867T>C (p.Ile956Thr) rs367603630 0.00001
NM_152564.5(VPS13B):c.2879T>C (p.Leu960Ser) rs775378782 0.00001
NM_152564.5(VPS13B):c.2880A>G (p.Leu960=) rs760792770 0.00001
NM_152564.5(VPS13B):c.2881T>C (p.Tyr961His) rs1563700103 0.00001
NM_152564.5(VPS13B):c.2886G>A (p.Thr962=) rs753837683 0.00001
NM_152564.5(VPS13B):c.288A>T (p.Ile96=) rs1842840884 0.00001
NM_152564.5(VPS13B):c.2897A>G (p.Tyr966Cys) rs779809192 0.00001
NM_152564.5(VPS13B):c.2900A>G (p.Gln967Arg) rs981817797 0.00001
NM_152564.5(VPS13B):c.2903C>T (p.Pro968Leu) rs200724624 0.00001
NM_152564.5(VPS13B):c.2906A>G (p.Gln969Arg) rs398124332 0.00001
NM_152564.5(VPS13B):c.291+7A>C rs571078874 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.2912G>A (p.Arg971Gln) rs778413172 0.00001
NM_152564.5(VPS13B):c.2915C>T (p.Thr972Ile) rs1299204511 0.00001
NM_152564.5(VPS13B):c.292-7A>G rs1554612610 0.00001
NM_152564.5(VPS13B):c.2921G>C (p.Arg974Thr) rs763519651 0.00001
NM_152564.5(VPS13B):c.2924A>G (p.His975Arg) rs376049764 0.00001
NM_152564.5(VPS13B):c.2934+7G>T rs368439781 0.00001
NM_152564.5(VPS13B):c.2934+8A>T rs768779247 0.00001
NM_152564.5(VPS13B):c.2934G>A (p.Gln978=) rs772161131 0.00001
NM_152564.5(VPS13B):c.2935-12G>A rs1394216324 0.00001
NM_152564.5(VPS13B):c.2935-12G>T rs1394216324 0.00001
NM_152564.5(VPS13B):c.2956C>T (p.Leu986Phe) rs1262733224 0.00001
NM_152564.5(VPS13B):c.2975G>A (p.Arg992Lys) rs1345250012 0.00001
NM_152564.5(VPS13B):c.297C>T (p.Asp99=) rs1295312029 0.00001
NM_152564.5(VPS13B):c.2995T>C (p.Ser999Pro) rs1429325415 0.00001
NM_152564.5(VPS13B):c.3000T>G (p.Ile1000Met) rs1465563233 0.00001
NM_152564.5(VPS13B):c.3009C>T (p.Ala1003=) rs1416404135 0.00001
NM_152564.5(VPS13B):c.3012C>T (p.Pro1004=) rs199519352 0.00001
NM_152564.5(VPS13B):c.3020A>G (p.Lys1007Arg) rs1297164249 0.00001
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter) rs567092790 0.00001
NM_152564.5(VPS13B):c.3023A>G (p.Gln1008Arg) rs369745645 0.00001
NM_152564.5(VPS13B):c.3027A>G (p.Gln1009=) rs1814454495 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.3061G>C (p.Val1021Leu) rs771816274 0.00001
NM_152564.5(VPS13B):c.3082+2T>C rs1188811827 0.00001
NM_152564.5(VPS13B):c.3082+5G>A rs753290752 0.00001
NM_152564.5(VPS13B):c.3083-2A>C rs1456528242 0.00001
NM_152564.5(VPS13B):c.3083-5C>G rs1427967091 0.00001
NM_152564.5(VPS13B):c.3084A>G (p.Glu1028=) rs150505597 0.00001
NM_152564.5(VPS13B):c.3106G>A (p.Val1036Ile) rs745742179 0.00001
NM_152564.5(VPS13B):c.3113C>T (p.Ala1038Val) rs1169113054 0.00001
NM_152564.5(VPS13B):c.3115A>G (p.Met1039Val) rs758412930 0.00001
NM_152564.5(VPS13B):c.3118T>C (p.Leu1040=) rs746830200 0.00001
NM_152564.5(VPS13B):c.318T>C (p.Asn106=) rs1846415935 0.00001
NM_152564.5(VPS13B):c.3210+11A>T rs191511518 0.00001
NM_152564.5(VPS13B):c.3211-16T>A rs1439444815 0.00001
NM_152564.5(VPS13B):c.3219A>G (p.Val1073=) rs1234904975 0.00001
NM_152564.5(VPS13B):c.3234G>A (p.Val1078=) rs1339519603 0.00001
NM_152564.5(VPS13B):c.3255G>A (p.Leu1085=) rs371674854 0.00001
NM_152564.5(VPS13B):c.3270A>G (p.Thr1090=) rs1307720386 0.00001
NM_152564.5(VPS13B):c.3271A>G (p.Ile1091Val) rs780930460 0.00001
NM_152564.5(VPS13B):c.3276A>G (p.Val1092=) rs1169250559 0.00001
NM_152564.5(VPS13B):c.328C>T (p.Arg110Cys) rs368290618 0.00001
NM_152564.5(VPS13B):c.3305G>A (p.Ser1102Asn) rs778498211 0.00001
NM_152564.5(VPS13B):c.3310T>A (p.Tyr1104Asn) rs1251521388 0.00001
NM_152564.5(VPS13B):c.3335G>A (p.Gly1112Glu) rs1463093451 0.00001
NM_152564.5(VPS13B):c.3339A>G (p.Thr1113=) rs961797247 0.00001
NM_152564.5(VPS13B):c.3360A>G (p.Gln1120=) rs1563732594 0.00001
NM_152564.5(VPS13B):c.3381G>A (p.Gly1127=) rs753370533 0.00001
NM_152564.5(VPS13B):c.3385A>G (p.Lys1129Glu) rs371315874 0.00001
NM_152564.5(VPS13B):c.3391A>G (p.Met1131Val) rs769263049 0.00001
NM_152564.5(VPS13B):c.339T>G (p.Ala113=) rs200619753 0.00001
NM_152564.5(VPS13B):c.3423C>T (p.Ile1141=) rs1180404619 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.3434T>C (p.Ile1145Thr) rs774277345 0.00001
NM_152564.5(VPS13B):c.3441A>G (p.Glu1147=) rs767433370 0.00001
NM_152564.5(VPS13B):c.3446-9C>G rs1429693242 0.00001
NM_152564.5(VPS13B):c.3453T>C (p.Ala1151=) rs1014978049 0.00001
NM_152564.5(VPS13B):c.3464C>T (p.Thr1155Met) rs758040462 0.00001
NM_152564.5(VPS13B):c.3494C>A (p.Thr1165Asn) rs777953652 0.00001
NM_152564.5(VPS13B):c.3503G>A (p.Gly1168Glu) rs1819169224 0.00001
NM_152564.5(VPS13B):c.3512T>G (p.Val1171Gly) rs771030813 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.3583A>G (p.Thr1195Ala) rs1027684992 0.00001
NM_152564.5(VPS13B):c.3594T>C (p.Asp1198=) rs779156454 0.00001
NM_152564.5(VPS13B):c.3599G>A (p.Arg1200Gln) rs376524142 0.00001
NM_152564.5(VPS13B):c.359T>A (p.Ile120Asn) rs763259028 0.00001
NM_152564.5(VPS13B):c.3615C>T (p.Val1205=) rs761670389 0.00001
NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr) rs145417421 0.00001
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln) rs1279523650 0.00001
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His) rs757707584 0.00001
NM_152564.5(VPS13B):c.3666+13G>C rs1311437131 0.00001
NM_152564.5(VPS13B):c.3667-1G>A rs750609612 0.00001
NM_152564.5(VPS13B):c.3667G>A (p.Val1223Ile) rs1820042425 0.00001
NM_152564.5(VPS13B):c.3669C>T (p.Val1223=) rs143905569 0.00001
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=) rs751715193 0.00001
NM_152564.5(VPS13B):c.3695T>C (p.Ile1232Thr) rs755187653 0.00001
NM_152564.5(VPS13B):c.3706G>A (p.Val1236Ile) rs769743278 0.00001
NM_152564.5(VPS13B):c.3755C>T (p.Ser1252Phe) rs763456297 0.00001
NM_152564.5(VPS13B):c.3762G>C (p.Glu1254Asp) rs751944327 0.00001
NM_152564.5(VPS13B):c.3774G>A (p.Gly1258=) rs867311125 0.00001
NM_152564.5(VPS13B):c.378G>A (p.Gln126=) rs1281161057 0.00001
NM_152564.5(VPS13B):c.3790C>T (p.Pro1264Ser) rs527263178 0.00001
NM_152564.5(VPS13B):c.3800G>A (p.Ser1267Asn) rs889348602 0.00001
NM_152564.5(VPS13B):c.3801C>T (p.Ser1267=) rs757288169 0.00001
NM_152564.5(VPS13B):c.3805A>G (p.Ile1269Val) rs778799166 0.00001
NM_152564.5(VPS13B):c.3807A>C (p.Ile1269=) rs745698032 0.00001
NM_152564.5(VPS13B):c.3826A>G (p.Thr1276Ala) rs746514520 0.00001
NM_152564.5(VPS13B):c.3827C>T (p.Thr1276Ile) rs567003932 0.00001
NM_152564.5(VPS13B):c.3836G>A (p.Cys1279Tyr) rs747109984 0.00001
NM_152564.5(VPS13B):c.3839G>A (p.Ser1280Asn) rs1441125749 0.00001
NM_152564.5(VPS13B):c.3853A>G (p.Ile1285Val) rs759888573 0.00001
NM_152564.5(VPS13B):c.3870+1G>T rs764225649 0.00001
NM_152564.5(VPS13B):c.3870+5G>A rs1183330877 0.00001
NM_152564.5(VPS13B):c.3871-14T>C rs559579760 0.00001
NM_152564.5(VPS13B):c.3871-17T>C rs771426507 0.00001
NM_152564.5(VPS13B):c.3874G>A (p.Asp1292Asn) rs150662496 0.00001
NM_152564.5(VPS13B):c.3880A>G (p.Ile1294Val) rs760928396 0.00001
NM_152564.5(VPS13B):c.3889G>A (p.Gly1297Ser) rs762049347 0.00001
NM_152564.5(VPS13B):c.3901C>T (p.Pro1301Ser) rs1326406012 0.00001
NM_152564.5(VPS13B):c.3909A>T (p.Ser1303=) rs779666289 0.00001
NM_152564.5(VPS13B):c.3948A>G (p.Gly1316=) rs975356010 0.00001
NM_152564.5(VPS13B):c.3961C>T (p.Arg1321Cys) rs922475155 0.00001
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter) rs1156390688 0.00001
NM_152564.5(VPS13B):c.4020A>G (p.Pro1340=) rs1821247586 0.00001
NM_152564.5(VPS13B):c.4034A>G (p.Lys1345Arg) rs1440678043 0.00001
NM_152564.5(VPS13B):c.4038C>G (p.Gly1346=) rs1821248178 0.00001
NM_152564.5(VPS13B):c.4043-4G>A rs754828253 0.00001
NM_152564.5(VPS13B):c.4051A>T (p.Met1351Leu) rs1821315813 0.00001
NM_152564.5(VPS13B):c.4058G>A (p.Ser1353Asn) rs1160697460 0.00001
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser) rs757950339 0.00001
NM_152564.5(VPS13B):c.4101A>T (p.Val1367=) rs1159683768 0.00001
NM_152564.5(VPS13B):c.412+18C>A rs2488605671 0.00001
NM_152564.5(VPS13B):c.413-11del rs1323106447 0.00001
NM_152564.5(VPS13B):c.413-15T>A rs750078421 0.00001
NM_152564.5(VPS13B):c.4132T>G (p.Phe1378Val) rs773134117 0.00001
NM_152564.5(VPS13B):c.4140T>A (p.Ile1380=) rs763157781 0.00001
NM_152564.5(VPS13B):c.4149T>C (p.Tyr1383=) rs1166145455 0.00001
NM_152564.5(VPS13B):c.4157+16T>C rs1307808618 0.00001
NM_152564.5(VPS13B):c.4157+19A>T rs759470345 0.00001
NM_152564.5(VPS13B):c.416A>T (p.Tyr139Phe) rs1226944454 0.00001
NM_152564.5(VPS13B):c.4224+548T>G rs199580389 0.00001
NM_152564.5(VPS13B):c.4224+556A>G rs1554824890 0.00001
NM_152564.5(VPS13B):c.4224+684T>G rs779176548 0.00001
NM_152564.5(VPS13B):c.4224+6A>G rs1173901763 0.00001
NM_152564.5(VPS13B):c.4224+707C>G rs1821585422 0.00001
NM_152564.5(VPS13B):c.4224+724A>G rs780003978 0.00001
NM_152564.5(VPS13B):c.4231A>G (p.Thr1411Ala) rs1462190245 0.00001
NM_152564.5(VPS13B):c.4245T>C (p.Asp1415=) rs1821769882 0.00001
NM_152564.5(VPS13B):c.4245_4247dup (p.Gly1416_Thr1417insGly) rs746974444 0.00001
NM_152564.5(VPS13B):c.4259A>G (p.Gln1420Arg) rs769643845 0.00001
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084 0.00001
NM_152564.5(VPS13B):c.4260G>A (p.Gln1420=) rs376118865 0.00001
NM_152564.5(VPS13B):c.4261C>T (p.His1421Tyr) rs748897329 0.00001
NM_152564.5(VPS13B):c.4266A>G (p.Gly1422=) rs1317212158 0.00001
NM_152564.5(VPS13B):c.4270C>T (p.Leu1424Phe) rs1821771268 0.00001
NM_152564.5(VPS13B):c.4286C>A (p.Thr1429Lys) rs1232811849 0.00001
NM_152564.5(VPS13B):c.4308C>T (p.Val1436=) rs762315814 0.00001
NM_152564.5(VPS13B):c.4309C>T (p.Arg1437Cys) rs765547105 0.00001
NM_152564.5(VPS13B):c.4310G>A (p.Arg1437His) rs750810791 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.4349A>G (p.His1450Arg) rs773937982 0.00001
NM_152564.5(VPS13B):c.4357T>C (p.Ser1453Pro) rs771420728 0.00001
NM_152564.5(VPS13B):c.4362A>G (p.Glu1454=) rs775013418 0.00001
NM_152564.5(VPS13B):c.4379C>T (p.Ser1460Phe) rs763285164 0.00001
NM_152564.5(VPS13B):c.4386T>C (p.His1462=) rs1821775372 0.00001
NM_152564.5(VPS13B):c.4395T>A (p.His1465Gln) rs2490521817 0.00001
NM_152564.5(VPS13B):c.4416A>T (p.Gln1472His) rs1821776501 0.00001
NM_152564.5(VPS13B):c.4424A>G (p.Asp1475Gly) rs751663330 0.00001
NM_152564.5(VPS13B):c.4441C>T (p.Pro1481Ser) rs1821777244 0.00001
NM_152564.5(VPS13B):c.4451A>T (p.Asn1484Ile) rs1457753544 0.00001
NM_152564.5(VPS13B):c.4456A>G (p.Ile1486Val) rs370519991 0.00001
NM_152564.5(VPS13B):c.4492C>G (p.Gln1498Glu) rs538237107 0.00001
NM_152564.5(VPS13B):c.4517G>A (p.Gly1506Asp) rs140797231 0.00001
NM_152564.5(VPS13B):c.4518T>C (p.Gly1506=) rs1821779613 0.00001
NM_152564.5(VPS13B):c.4521G>A (p.Gln1507=) rs779519268 0.00001
NM_152564.5(VPS13B):c.4538C>A (p.Thr1513Lys) rs773650885 0.00001
NM_152564.5(VPS13B):c.4545A>T (p.Thr1515=) rs763518845 0.00001
NM_152564.5(VPS13B):c.4552A>C (p.Asn1518His) rs760899771 0.00001
NM_152564.5(VPS13B):c.4582G>C (p.Val1528Leu) rs757253779 0.00001
NM_152564.5(VPS13B):c.4589G>A (p.Arg1530Lys) rs1234827991 0.00001
NM_152564.5(VPS13B):c.4631A>G (p.Glu1544Gly) rs1821786117 0.00001
NM_152564.5(VPS13B):c.4632A>C (p.Glu1544Asp) rs749708849 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.4633+4T>C rs1384867213 0.00001
NM_152564.5(VPS13B):c.4645G>A (p.Ala1549Thr) rs750053756 0.00001
NM_152564.5(VPS13B):c.4646C>G (p.Ala1549Gly) rs754646345 0.00001
NM_152564.5(VPS13B):c.4653A>G (p.Glu1551=) rs368552225 0.00001
NM_152564.5(VPS13B):c.4668G>A (p.Leu1556=) rs1322804531 0.00001
NM_152564.5(VPS13B):c.4673T>A (p.Ile1558Asn) rs138417551 0.00001
NM_152564.5(VPS13B):c.4711C>T (p.Leu1571Phe) rs1481675275 0.00001
NM_152564.5(VPS13B):c.4716C>G (p.Gly1572=) rs1822355296 0.00001
NM_152564.5(VPS13B):c.4735G>T (p.Asp1579Tyr) rs142708735 0.00001
NM_152564.5(VPS13B):c.4745+1G>A rs1469729130 0.00001
NM_152564.5(VPS13B):c.4746-1G>C rs768342041 0.00001
NM_152564.5(VPS13B):c.4752C>T (p.Ala1584=) rs1824571609 0.00001
NM_152564.5(VPS13B):c.4763G>T (p.Gly1588Val) rs760057249 0.00001
NM_152564.5(VPS13B):c.4767T>C (p.Ile1589=) rs1160081199 0.00001
NM_152564.5(VPS13B):c.4792G>A (p.Glu1598Lys) rs1169963451 0.00001
NM_152564.5(VPS13B):c.4812A>G (p.Ile1604Met) rs1824574633 0.00001
NM_152564.5(VPS13B):c.4833T>C (p.Ile1611=) rs1380489766 0.00001
NM_152564.5(VPS13B):c.4841C>A (p.Ala1614Glu) rs1002672196 0.00001
NM_152564.5(VPS13B):c.4870G>C (p.Glu1624Gln) rs1257281144 0.00001
NM_152564.5(VPS13B):c.4881A>G (p.Ser1627=) rs2133764883 0.00001
NM_152564.5(VPS13B):c.4885G>A (p.Gly1629Arg) rs776600965 0.00001
NM_152564.5(VPS13B):c.4888G>T (p.Val1630Leu) rs1824580005 0.00001
NM_152564.5(VPS13B):c.4889T>C (p.Val1630Ala) rs769608908 0.00001
NM_152564.5(VPS13B):c.4900A>G (p.Thr1634Ala) rs1193101764 0.00001
NM_152564.5(VPS13B):c.4902T>C (p.Thr1634=) rs1420456509 0.00001
NM_152564.5(VPS13B):c.4932G>A (p.Glu1644=) rs775791528 0.00001
NM_152564.5(VPS13B):c.4949+12T>C rs757444418 0.00001
NM_152564.5(VPS13B):c.4949+14G>A rs1001974450 0.00001
NM_152564.5(VPS13B):c.4949+2T>C rs761273297 0.00001
NM_152564.5(VPS13B):c.4950-10dup rs761293145 0.00001
NM_152564.5(VPS13B):c.4956G>T (p.Arg1652=) rs192128754 0.00001
NM_152564.5(VPS13B):c.4957C>T (p.Arg1653Trp) rs766323056 0.00001
NM_152564.5(VPS13B):c.4959G>A (p.Arg1653=) rs182877520 0.00001
NM_152564.5(VPS13B):c.4975G>A (p.Ala1659Thr) rs200014322 0.00001
NM_152564.5(VPS13B):c.4981T>C (p.Leu1661=) rs1825743811 0.00001
NM_152564.5(VPS13B):c.498T>G (p.Asp166Glu) rs776596431 0.00001
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile) rs770669224 0.00001
NM_152564.5(VPS13B):c.4995G>A (p.Leu1665=) rs139586722 0.00001
NM_152564.5(VPS13B):c.5001T>A (p.Asp1667Glu) rs527950476 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.5017A>G (p.Thr1673Ala) rs1224933519 0.00001
NM_152564.5(VPS13B):c.501C>T (p.Ile167=) rs765288271 0.00001
NM_152564.5(VPS13B):c.5032G>A (p.Val1678Ile) rs1019355776 0.00001
NM_152564.5(VPS13B):c.5050G>A (p.Val1684Ile) rs1393723853 0.00001
NM_152564.5(VPS13B):c.5076+1G>C rs1825747036 0.00001
NM_152564.5(VPS13B):c.5077-15C>T rs1432835454 0.00001
NM_152564.5(VPS13B):c.5088G>A (p.Val1696=) rs1201956279 0.00001
NM_152564.5(VPS13B):c.5123A>C (p.Asn1708Thr) rs200878381 0.00001
NM_152564.5(VPS13B):c.5124C>T (p.Asn1708=) rs746586467 0.00001
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu) rs572732952 0.00001
NM_152564.5(VPS13B):c.5137C>G (p.Leu1713Val) rs187596259 0.00001
NM_152564.5(VPS13B):c.513C>T (p.Val171=) rs1846845460 0.00001
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs) rs1563806122 0.00001
NM_152564.5(VPS13B):c.5156A>G (p.Gln1719Arg) rs772461225 0.00001
NM_152564.5(VPS13B):c.5157A>G (p.Gln1719=) rs1349630576 0.00001
NM_152564.5(VPS13B):c.5165A>G (p.His1722Arg) rs1030098875 0.00001
NM_152564.5(VPS13B):c.5173A>G (p.Ile1725Val) rs371963567 0.00001
NM_152564.5(VPS13B):c.5178A>G (p.Val1726=) rs761688743 0.00001
NM_152564.5(VPS13B):c.5206A>G (p.Asn1736Asp) rs976129659 0.00001
NM_152564.5(VPS13B):c.5212G>C (p.Ala1738Pro) rs572817378 0.00001
NM_152564.5(VPS13B):c.5220+10A>C rs1221192419 0.00001
NM_152564.5(VPS13B):c.5220+17T>C rs1825839857 0.00001
NM_152564.5(VPS13B):c.5220+3_5220+5del rs759095135 0.00001
NM_152564.5(VPS13B):c.5220+8T>C rs78899648 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.5221-5T>C rs761788793 0.00001
NM_152564.5(VPS13B):c.5248G>A (p.Asp1750Asn) rs1241714095 0.00001
NM_152564.5(VPS13B):c.5249A>G (p.Asp1750Gly) rs767031340 0.00001
NM_152564.5(VPS13B):c.5251A>G (p.Ile1751Val) rs757833793 0.00001
NM_152564.5(VPS13B):c.5264G>T (p.Gly1755Val) rs1426875703 0.00001
NM_152564.5(VPS13B):c.5269G>A (p.Ala1757Thr) rs146540735 0.00001
NM_152564.5(VPS13B):c.5355G>A (p.Gln1785=) rs1172785221 0.00001
NM_152564.5(VPS13B):c.5377C>T (p.Arg1793Cys) rs760207080 0.00001
NM_152564.5(VPS13B):c.5384C>T (p.Ala1795Val) rs1287872336 0.00001
NM_152564.5(VPS13B):c.5385C>T (p.Ala1795=) rs371961319 0.00001
NM_152564.5(VPS13B):c.5386C>T (p.Arg1796Cys) rs759001395 0.00001
NM_152564.5(VPS13B):c.539C>T (p.Thr180Ile) rs1448614713 0.00001
NM_152564.5(VPS13B):c.5422A>C (p.Asn1808His) rs891967669 0.00001
NM_152564.5(VPS13B):c.5425T>C (p.Phe1809Leu) rs1829389659 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.5490C>G (p.Ala1830=) rs1829392538 0.00001
NM_152564.5(VPS13B):c.5511A>G (p.Gln1837=) rs767953687 0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) rs1057516633 0.00001
NM_152564.5(VPS13B):c.5539_5540del (p.Lys1847fs) rs1829394659 0.00001
NM_152564.5(VPS13B):c.5541G>A (p.Lys1847=) rs771725660 0.00001
NM_152564.5(VPS13B):c.5556C>T (p.Leu1852=) rs1379522761 0.00001
NM_152564.5(VPS13B):c.5562A>G (p.Glu1854=) rs1588579605 0.00001
NM_152564.5(VPS13B):c.5589C>T (p.Asn1863=) rs2491207533 0.00001
NM_152564.5(VPS13B):c.559C>T (p.Arg187Cys) rs367561688 0.00001
NM_152564.5(VPS13B):c.5600T>C (p.Ile1867Thr) rs1388913978 0.00001
NM_152564.5(VPS13B):c.5613A>C (p.Thr1871=) rs1417569777 0.00001
NM_152564.5(VPS13B):c.5650T>G (p.Ser1884Ala) rs1829399025 0.00001
NM_152564.5(VPS13B):c.5653G>A (p.Gly1885Arg) rs1829399240 0.00001
NM_152564.5(VPS13B):c.5656A>G (p.Lys1886Glu) rs1450395032 0.00001
NM_152564.5(VPS13B):c.5658A>G (p.Lys1886=) rs1338773440 0.00001
NM_152564.5(VPS13B):c.5661A>G (p.Lys1887=) rs1258600855 0.00001
NM_152564.5(VPS13B):c.5662A>G (p.Ile1888Val) rs2133932160 0.00001
NM_152564.5(VPS13B):c.5677C>T (p.Leu1893Phe) rs758410065 0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs) rs886041586 0.00001
NM_152564.5(VPS13B):c.5701A>G (p.Arg1901Gly) rs1176179128 0.00001
NM_152564.5(VPS13B):c.5705C>A (p.Ser1902Ter) rs1829401940 0.00001
NM_152564.5(VPS13B):c.5712T>C (p.Ala1904=) rs1829402173 0.00001
NM_152564.5(VPS13B):c.5720C>T (p.Ala1907Val) rs913328995 0.00001
NM_152564.5(VPS13B):c.5728A>G (p.Ile1910Val) rs759925536 0.00001
NM_152564.5(VPS13B):c.572A>G (p.Asp191Gly) rs780314838 0.00001
NM_152564.5(VPS13B):c.5731A>G (p.Thr1911Ala) rs946197995 0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) rs386834099 0.00001
NM_152564.5(VPS13B):c.5774A>T (p.Gln1925Leu) rs541081770 0.00001
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=) rs765209957 0.00001
NM_152564.5(VPS13B):c.580+8A>T rs1169509171 0.00001
NM_152564.5(VPS13B):c.580G>A (p.Ala194Thr) rs771155171 0.00001
NM_152564.5(VPS13B):c.581-13T>C rs1847339211 0.00001
NM_152564.5(VPS13B):c.581-18del rs1467641298 0.00001
NM_152564.5(VPS13B):c.5814C>A (p.Ser1938=) rs2491208650 0.00001
NM_152564.5(VPS13B):c.5818C>G (p.Leu1940Val) rs781154165 0.00001
NM_152564.5(VPS13B):c.5832C>T (p.His1944=) rs372340783 0.00001
NM_152564.5(VPS13B):c.5840A>G (p.Lys1947Arg) rs777142337 0.00001
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00001
NM_152564.5(VPS13B):c.5846G>A (p.Arg1949Gln) rs770439397 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.585T>A (p.Thr195=) rs773972779 0.00001
NM_152564.5(VPS13B):c.5889C>T (p.Ala1963=) rs761911534 0.00001
NM_152564.5(VPS13B):c.5902T>C (p.Cys1968Arg) rs1422533086 0.00001
NM_152564.5(VPS13B):c.5904T>C (p.Cys1968=) rs773156709 0.00001
NM_152564.5(VPS13B):c.5909-10G>A rs769191915 0.00001
NM_152564.5(VPS13B):c.5909-16A>T rs1830216474 0.00001
NM_152564.5(VPS13B):c.5909-8C>T rs369342604 0.00001
NM_152564.5(VPS13B):c.5950G>A (p.Val1984Ile) rs1303328130 0.00001
NM_152564.5(VPS13B):c.5964A>G (p.Thr1988=) rs373595694 0.00001
NM_152564.5(VPS13B):c.5980G>T (p.Asp1994Tyr) rs1563849907 0.00001
NM_152564.5(VPS13B):c.5982C>T (p.Asp1994=) rs759538241 0.00001
NM_152564.5(VPS13B):c.5995A>G (p.Ile1999Val) rs1364601401 0.00001
NM_152564.5(VPS13B):c.5997T>C (p.Ile1999=) rs912201816 0.00001
NM_152564.5(VPS13B):c.6018A>G (p.Leu2006=) rs1830220407 0.00001
NM_152564.5(VPS13B):c.6022A>T (p.Ile2008Phe) rs753483216 0.00001
NM_152564.5(VPS13B):c.6047-14T>C rs753675844 0.00001
NM_152564.5(VPS13B):c.6047-15T>C rs1832181974 0.00001
NM_152564.5(VPS13B):c.6047-4A>G rs764928258 0.00001
NM_152564.5(VPS13B):c.6047-6C>T rs1386160206 0.00001
NM_152564.5(VPS13B):c.6047C>T (p.Ala2016Val) rs199837195 0.00001
NM_152564.5(VPS13B):c.6058T>C (p.Leu2020=) rs377724023 0.00001
NM_152564.5(VPS13B):c.6073C>G (p.Pro2025Ala) rs779210102 0.00001
NM_152564.5(VPS13B):c.6077T>A (p.Leu2026Ter) rs1293372026 0.00001
NM_152564.5(VPS13B):c.6103C>A (p.Leu2035Met) rs146073786 0.00001
NM_152564.5(VPS13B):c.610A>G (p.Asn204Asp) rs2132481643 0.00001
NM_152564.5(VPS13B):c.6147C>T (p.His2049=) rs770132791 0.00001
NM_152564.5(VPS13B):c.6154G>A (p.Ala2052Thr) rs765025227 0.00001
NM_152564.5(VPS13B):c.6178A>G (p.Met2060Val) rs200711677 0.00001
NM_152564.5(VPS13B):c.6190A>G (p.Met2064Val) rs200554315 0.00001
NM_152564.5(VPS13B):c.6216C>A (p.Val2072=) rs1315907540 0.00001
NM_152564.5(VPS13B):c.6221A>C (p.Lys2074Thr) rs1832190048 0.00001
NM_152564.5(VPS13B):c.623G>A (p.Cys208Tyr) rs1209535812 0.00001
NM_152564.5(VPS13B):c.6258T>C (p.His2086=) rs1472821351 0.00001
NM_152564.5(VPS13B):c.6260G>A (p.Gly2087Asp) rs1184175662 0.00001
NM_152564.5(VPS13B):c.6262G>A (p.Asp2088Asn) rs1056435586 0.00001
NM_152564.5(VPS13B):c.6274A>C (p.Lys2092Gln) rs1422079821 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6297G>T (p.Met2099Ile) rs766003681 0.00001
NM_152564.5(VPS13B):c.6304G>A (p.Ala2102Thr) rs1832192414 0.00001
NM_152564.5(VPS13B):c.6335A>G (p.Gln2112Arg) rs1212416417 0.00001
NM_152564.5(VPS13B):c.6358A>G (p.Met2120Val) rs748059850 0.00001
NM_152564.5(VPS13B):c.6366T>C (p.Thr2122=) rs769787067 0.00001
NM_152564.5(VPS13B):c.6401C>G (p.Ser2134Cys) rs367838871 0.00001
NM_152564.5(VPS13B):c.6417T>C (p.Asn2139=) rs1359924343 0.00001
NM_152564.5(VPS13B):c.6437C>T (p.Ala2146Val) rs967172609 0.00001
NM_152564.5(VPS13B):c.6454+16G>C rs1563870838 0.00001
NM_152564.5(VPS13B):c.6456C>A (p.Gly2152=) rs141845131 0.00001
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro) rs1366756885 0.00001
NM_152564.5(VPS13B):c.6487A>G (p.Ile2163Val) rs794727599 0.00001
NM_152564.5(VPS13B):c.6492C>T (p.Asn2164=) rs773555887 0.00001
NM_152564.5(VPS13B):c.6527G>A (p.Ser2176Asn) rs767664311 0.00001
NM_152564.5(VPS13B):c.6529C>T (p.Arg2177Cys) rs756143690 0.00001
NM_152564.5(VPS13B):c.6538A>G (p.Ile2180Val) rs1179122669 0.00001
NM_152564.5(VPS13B):c.6543A>T (p.Gly2181=) rs766514248 0.00001
NM_152564.5(VPS13B):c.6544C>A (p.Pro2182Thr) rs778567402 0.00001
NM_152564.5(VPS13B):c.6556A>G (p.Thr2186Ala) rs532297738 0.00001
NM_152564.5(VPS13B):c.6558T>G (p.Thr2186=) rs779788114 0.00001
NM_152564.5(VPS13B):c.6566T>G (p.Leu2189Arg) rs768005455 0.00001
NM_152564.5(VPS13B):c.6567G>A (p.Leu2189=) rs1394929122 0.00001
NM_152564.5(VPS13B):c.6588C>T (p.His2196=) rs1460052962 0.00001
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=) rs774730061 0.00001
NM_152564.5(VPS13B):c.6592G>A (p.Gly2198Arg) rs751576277 0.00001
NM_152564.5(VPS13B):c.6600A>G (p.Pro2200=) rs1259627712 0.00001
NM_152564.5(VPS13B):c.6602G>T (p.Gly2201Val) rs149727474 0.00001
NM_152564.5(VPS13B):c.6609A>C (p.Glu2203Asp) rs1421107785 0.00001
NM_152564.5(VPS13B):c.6648T>C (p.Gly2216=) rs746640467 0.00001
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=) rs1046756662 0.00001
NM_152564.5(VPS13B):c.6657+18A>G rs1282623391 0.00001
NM_152564.5(VPS13B):c.6658-3A>T rs994417111 0.00001
NM_152564.5(VPS13B):c.6676C>T (p.His2226Tyr) rs747340772 0.00001
NM_152564.5(VPS13B):c.6682A>G (p.Asn2228Asp) rs1833088056 0.00001
NM_152564.5(VPS13B):c.6698T>C (p.Leu2233Pro) rs776873589 0.00001
NM_152564.5(VPS13B):c.6708A>T (p.Leu2236Phe) rs1001219779 0.00001
NM_152564.5(VPS13B):c.6711C>G (p.Leu2237=) rs769974060 0.00001
NM_152564.5(VPS13B):c.6714T>C (p.Asn2238=) rs375613057 0.00001
NM_152564.5(VPS13B):c.6723T>G (p.Leu2241=) rs924902847 0.00001
NM_152564.5(VPS13B):c.6731del (p.Glu2244fs) rs1833089251 0.00001
NM_152564.5(VPS13B):c.6765G>A (p.Val2255=) rs544426092 0.00001
NM_152564.5(VPS13B):c.6771A>G (p.Gln2257=) rs1833090327 0.00001
NM_152564.5(VPS13B):c.6777A>G (p.Ser2259=) rs1833090480 0.00001
NM_152564.5(VPS13B):c.6808A>T (p.Ser2270Cys) rs1445900590 0.00001
NM_152564.5(VPS13B):c.6823G>C (p.Asp2275His) rs1833091516 0.00001
NM_152564.5(VPS13B):c.6842T>A (p.Leu2281Gln) rs1833091932 0.00001
NM_152564.5(VPS13B):c.684A>G (p.Leu228=) rs1847344855 0.00001
NM_152564.5(VPS13B):c.6865+16C>T rs1439132876 0.00001
NM_152564.5(VPS13B):c.6865+1G>T rs202046738 0.00001
NM_152564.5(VPS13B):c.6866-14C>A rs1277958075 0.00001
NM_152564.5(VPS13B):c.6870T>C (p.Ser2290=) rs2130342895 0.00001
NM_152564.5(VPS13B):c.6879G>A (p.Leu2293=) rs753494412 0.00001
NM_152564.5(VPS13B):c.6900A>G (p.Leu2300=) rs1833105008 0.00001
NM_152564.5(VPS13B):c.6930G>A (p.Gly2310=) rs778096388 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.6948T>C (p.Tyr2316=) rs774332625 0.00001
NM_152564.5(VPS13B):c.6960A>G (p.Arg2320=) rs1238316814 0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) rs120074150 0.00001
NM_152564.5(VPS13B):c.6990A>G (p.Val2330=) rs1833107587 0.00001
NM_152564.5(VPS13B):c.6996T>C (p.Phe2332=) rs1833107747 0.00001
NM_152564.5(VPS13B):c.69G>C (p.Pro23=) rs570877761 0.00001
NM_152564.5(VPS13B):c.7012C>T (p.Pro2338Ser) rs1833108064 0.00001
NM_152564.5(VPS13B):c.7025C>T (p.Thr2342Ile) rs1833108203 0.00001
NM_152564.5(VPS13B):c.7047A>G (p.Leu2349=) rs201133836 0.00001
NM_152564.5(VPS13B):c.704G>T (p.Arg235Ile) rs1459648775 0.00001
NM_152564.5(VPS13B):c.7050+18A>G rs1477876868 0.00001
NM_152564.5(VPS13B):c.7051-17T>G rs764859638 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152564.5(VPS13B):c.7059T>C (p.Cys2353=) rs1048602429 0.00001
NM_152564.5(VPS13B):c.7063T>C (p.Leu2355=) rs1217104122 0.00001
NM_152564.5(VPS13B):c.7085A>G (p.Gln2362Arg) rs148385830 0.00001
NM_152564.5(VPS13B):c.710G>A (p.Arg237His) rs751804274 0.00001
NM_152564.5(VPS13B):c.7128C>A (p.Ser2376Arg) rs1811252908 0.00001
NM_152564.5(VPS13B):c.7165G>A (p.Val2389Met) rs764630440 0.00001
NM_152564.5(VPS13B):c.7167G>A (p.Val2389=) rs145846582 0.00001
NM_152564.5(VPS13B):c.7187T>A (p.Val2396Glu) rs754410472 0.00001
NM_152564.5(VPS13B):c.7188A>G (p.Val2396=) rs928101727 0.00001
NM_152564.5(VPS13B):c.7199T>C (p.Leu2400Pro) rs1289418559 0.00001
NM_152564.5(VPS13B):c.7207A>G (p.Ile2403Val) rs765664729 0.00001
NM_152564.5(VPS13B):c.7230T>A (p.Asn2410Lys) rs758694590 0.00001
NM_152564.5(VPS13B):c.7243C>A (p.Gln2415Lys) rs755052081 0.00001
NM_152564.5(VPS13B):c.7262C>G (p.Ser2421Cys) rs1016168403 0.00001
NM_152564.5(VPS13B):c.7284T>C (p.Asp2428=) rs1811763314 0.00001
NM_152564.5(VPS13B):c.7301C>T (p.Thr2434Ile) rs1811763988 0.00001
NM_152564.5(VPS13B):c.7306C>T (p.Leu2436=) rs200065297 0.00001
NM_152564.5(VPS13B):c.7345T>C (p.Trp2449Arg) rs1053258649 0.00001
NM_152564.5(VPS13B):c.7351G>A (p.Val2451Ile) rs771677434 0.00001
NM_152564.5(VPS13B):c.7358C>T (p.Ser2453Phe) rs1811766011 0.00001
NM_152564.5(VPS13B):c.7370C>G (p.Ser2457Cys) rs773594659 0.00001
NM_152564.5(VPS13B):c.7371T>C (p.Ser2457=) rs545012804 0.00001
NM_152564.5(VPS13B):c.7390G>C (p.Glu2464Gln) rs752014773 0.00001
NM_152564.5(VPS13B):c.7429+18A>G rs374929892 0.00001
NM_152564.5(VPS13B):c.7454T>C (p.Phe2485Ser) rs779696637 0.00001
NM_152564.5(VPS13B):c.7477T>A (p.Ser2493Thr) rs779401089 0.00001
NM_152564.5(VPS13B):c.7492A>G (p.Met2498Val) rs772347065 0.00001
NM_152564.5(VPS13B):c.750A>G (p.Pro250=) rs771965319 0.00001
NM_152564.5(VPS13B):c.7519A>G (p.Met2507Val) rs1467331063 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.7533G>A (p.Gln2511=) rs1563913379 0.00001
NM_152564.5(VPS13B):c.75T>C (p.Asp25=) rs1208206064 0.00001
NM_152564.5(VPS13B):c.7610T>C (p.Val2537Ala) rs751188155 0.00001
NM_152564.5(VPS13B):c.762+5G>T rs1847351205 0.00001
NM_152564.5(VPS13B):c.763-10C>T rs375512611 0.00001
NM_152564.5(VPS13B):c.763-18G>A rs757376430 0.00001
NM_152564.5(VPS13B):c.763-1G>T rs1255440756 0.00001
NM_152564.5(VPS13B):c.763-7A>G rs972645639 0.00001
NM_152564.5(VPS13B):c.7654A>T (p.Met2552Leu) rs747240552 0.00001
NM_152564.5(VPS13B):c.7663T>G (p.Ser2555Ala) rs887354798 0.00001
NM_152564.5(VPS13B):c.7686G>A (p.Leu2562=) rs1253906756 0.00001
NM_152564.5(VPS13B):c.7687C>G (p.Leu2563Val) rs1451188144 0.00001
NM_152564.5(VPS13B):c.7688T>G (p.Leu2563Arg) rs759385151 0.00001
NM_152564.5(VPS13B):c.7692C>G (p.Asp2564Glu) rs767022008 0.00001
NM_152564.5(VPS13B):c.7703T>C (p.Ile2568Thr) rs1811877032 0.00001
NM_152564.5(VPS13B):c.7705G>A (p.Val2569Ile) rs780461877 0.00001
NM_152564.5(VPS13B):c.7706T>C (p.Val2569Ala) rs1434588029 0.00001
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=) rs981350121 0.00001
NM_152564.5(VPS13B):c.7722A>C (p.Val2574=) rs1811878366 0.00001
NM_152564.5(VPS13B):c.7724A>T (p.Asn2575Ile) rs549157416 0.00001
NM_152564.5(VPS13B):c.7734G>A (p.Gln2578=) rs1237963374 0.00001
NM_152564.5(VPS13B):c.773T>C (p.Leu258Ser) rs1026827853 0.00001
NM_152564.5(VPS13B):c.7779G>C (p.Gln2593His) rs796478997 0.00001
NM_152564.5(VPS13B):c.7780-2A>C rs1378196300 0.00001
NM_152564.5(VPS13B):c.7780-8T>C rs1437282953 0.00001
NM_152564.5(VPS13B):c.7792G>A (p.Glu2598Lys) rs202238616 0.00001
NM_152564.5(VPS13B):c.7820T>C (p.Phe2607Ser) rs370370264 0.00001
NM_152564.5(VPS13B):c.7824G>C (p.Val2608=) rs1212084620 0.00001
NM_152564.5(VPS13B):c.7849C>T (p.Leu2617=) rs1812159597 0.00001
NM_152564.5(VPS13B):c.7851G>A (p.Leu2617=) rs920428153 0.00001
NM_152564.5(VPS13B):c.7852C>T (p.Arg2618Trp) rs779101063 0.00001
NM_152564.5(VPS13B):c.7854G>A (p.Arg2618=) rs1037652827 0.00001
NM_152564.5(VPS13B):c.7866G>A (p.Val2622=) rs772064414 0.00001
NM_152564.5(VPS13B):c.7880A>C (p.Asn2627Thr) rs886062544 0.00001
NM_152564.5(VPS13B):c.78A>G (p.Leu26=) rs745980143 0.00001
NM_152564.5(VPS13B):c.7931A>G (p.Lys2644Arg) rs760112876 0.00001
NM_152564.5(VPS13B):c.7938A>G (p.Pro2646=) rs768082312 0.00001
NM_152564.5(VPS13B):c.7941+16C>A rs1484297251 0.00001
NM_152564.5(VPS13B):c.7941+20_7941+42del rs769286340 0.00001
NM_152564.5(VPS13B):c.7941+6T>C rs1250134243 0.00001
NM_152564.5(VPS13B):c.7942-10T>C rs1392078176 0.00001
NM_152564.5(VPS13B):c.7942-4C>G rs762089861 0.00001
NM_152564.5(VPS13B):c.7942-7T>C rs200896111 0.00001
NM_152564.5(VPS13B):c.7942C>T (p.Leu2648=) rs765442907 0.00001
NM_152564.5(VPS13B):c.7945T>G (p.Leu2649Val) rs533426135 0.00001
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=) rs758430817 0.00001
NM_152564.5(VPS13B):c.7968G>A (p.Trp2656Ter) rs766484806 0.00001
NM_152564.5(VPS13B):c.7974C>T (p.Asn2658=) rs756420442 0.00001
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His) rs555559192 0.00001
NM_152564.5(VPS13B):c.7980T>G (p.Arg2660=) rs780841974 0.00001
NM_152564.5(VPS13B):c.8001G>A (p.Val2667=) rs1813586525 0.00001
NM_152564.5(VPS13B):c.8023A>G (p.Arg2675Gly) rs770879393 0.00001
NM_152564.5(VPS13B):c.8034G>T (p.Gln2678His) rs1159472711 0.00001
NM_152564.5(VPS13B):c.8037C>T (p.Tyr2679=) rs777019428 0.00001
NM_152564.5(VPS13B):c.8041G>A (p.Gly2681Ser) rs762186948 0.00001
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8061C>G (p.Ile2687Met) rs201866766 0.00001
NM_152564.5(VPS13B):c.8068G>A (p.Val2690Ile) rs751700874 0.00001
NM_152564.5(VPS13B):c.8081A>G (p.Asn2694Ser) rs1270195810 0.00001
NM_152564.5(VPS13B):c.8097+18C>G rs1033594869 0.00001
NM_152564.5(VPS13B):c.8097+1G>A rs1813590716 0.00001
NM_152564.5(VPS13B):c.8098-7C>T rs1814116227 0.00001
NM_152564.5(VPS13B):c.8106C>T (p.Ile2702=) rs759624352 0.00001
NM_152564.5(VPS13B):c.8110G>A (p.Gly2704Arg) rs767536787 0.00001
NM_152564.5(VPS13B):c.8118G>A (p.Gln2706=) rs752661758 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.8173A>G (p.Ile2725Val) rs201127443 0.00001
NM_152564.5(VPS13B):c.817A>G (p.Met273Val) rs776278257 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.8218C>T (p.Leu2740Phe) rs772183822 0.00001
NM_152564.5(VPS13B):c.8248A>G (p.Ile2750Val) rs1465869942 0.00001
NM_152564.5(VPS13B):c.8255A>G (p.Glu2752Gly) rs1563488856 0.00001
NM_152564.5(VPS13B):c.825T>G (p.Ile275Met) rs769413380 0.00001
NM_152564.5(VPS13B):c.826C>T (p.Arg276Cys) rs1297259725 0.00001
NM_152564.5(VPS13B):c.8270C>T (p.Thr2757Met) rs1297641779 0.00001
NM_152564.5(VPS13B):c.8271G>A (p.Thr2757=) rs758044842 0.00001
NM_152564.5(VPS13B):c.827G>A (p.Arg276His) rs181021782 0.00001
NM_152564.5(VPS13B):c.8293G>A (p.Gly2765Arg) rs750963582 0.00001
NM_152564.5(VPS13B):c.8297A>T (p.Asp2766Val) rs1814129099 0.00001
NM_152564.5(VPS13B):c.8304C>T (p.Asp2768=) rs1464962948 0.00001
NM_152564.5(VPS13B):c.8310A>G (p.Ser2770=) rs982023622 0.00001
NM_152564.5(VPS13B):c.8343G>A (p.Glu2781=) rs1372155157 0.00001
NM_152564.5(VPS13B):c.8353G>A (p.Val2785Ile) rs377170629 0.00001
NM_152564.5(VPS13B):c.8361+12C>T rs886062546 0.00001
NM_152564.5(VPS13B):c.8361+1G>A rs542757501 0.00001
NM_152564.5(VPS13B):c.8361+20C>G rs989188540 0.00001
NM_152564.5(VPS13B):c.8361+3T>C rs1389567985 0.00001
NM_152564.5(VPS13B):c.8374A>T (p.Asn2792Tyr) rs374369731 0.00001
NM_152564.5(VPS13B):c.8391T>C (p.Tyr2797=) rs1221576628 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8426C>G (p.Ser2809Cys) rs1588743592 0.00001
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro) rs769551176 0.00001
NM_152564.5(VPS13B):c.8436A>G (p.Gln2812=) rs1030751173 0.00001
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00001
NM_152564.5(VPS13B):c.8445+13C>T rs576105546 0.00001
NM_152564.5(VPS13B):c.8445+16A>G rs1814177712 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.8446-6T>G rs1814192328 0.00001
NM_152564.5(VPS13B):c.8446-8T>A rs774202116 0.00001
NM_152564.5(VPS13B):c.8449G>A (p.Val2817Met) rs1362379578 0.00001
NM_152564.5(VPS13B):c.8460T>C (p.Pro2820=) rs750875099 0.00001
NM_152564.5(VPS13B):c.8480A>G (p.His2827Arg) rs755406876 0.00001
NM_152564.5(VPS13B):c.8497A>G (p.Ile2833Val) rs797046096 0.00001
NM_152564.5(VPS13B):c.8498T>G (p.Ile2833Ser) rs1231452283 0.00001
NM_152564.5(VPS13B):c.8506T>G (p.Leu2836Val) rs1476327965 0.00001
NM_152564.5(VPS13B):c.8527T>A (p.Leu2843Met) rs778838868 0.00001
NM_152564.5(VPS13B):c.8528T>C (p.Leu2843Ser) rs552728714 0.00001
NM_152564.5(VPS13B):c.8548C>T (p.Pro2850Ser) rs1452503935 0.00001
NM_152564.5(VPS13B):c.8574G>A (p.Leu2858=) rs930980997 0.00001
NM_152564.5(VPS13B):c.8592C>A (p.Asp2864Glu) rs1266484514 0.00001
NM_152564.5(VPS13B):c.8595T>C (p.Leu2865=) rs761233089 0.00001
NM_152564.5(VPS13B):c.8621+18C>T rs752131066 0.00001
NM_152564.5(VPS13B):c.8621+20A>G rs1393942553 0.00001
NM_152564.5(VPS13B):c.8621+4C>G rs1563489649 0.00001
NM_152564.5(VPS13B):c.8621+6A>G rs766934830 0.00001
NM_152564.5(VPS13B):c.8633A>G (p.Asp2878Gly) rs1563490033 0.00001
NM_152564.5(VPS13B):c.8647G>T (p.Ala2883Ser) rs1260884050 0.00001
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=) rs199552885 0.00001
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val) rs1272294316 0.00001
NM_152564.5(VPS13B):c.8691G>A (p.Lys2897=) rs1364307723 0.00001
NM_152564.5(VPS13B):c.8694A>G (p.Val2898=) rs1482608670 0.00001
NM_152564.5(VPS13B):c.8695C>T (p.His2899Tyr) rs895271990 0.00001
NM_152564.5(VPS13B):c.8697C>T (p.His2899=) rs375911218 0.00001
NM_152564.5(VPS13B):c.8700T>C (p.Pro2900=) rs1316265619 0.00001
NM_152564.5(VPS13B):c.8719A>G (p.Ile2907Val) rs1462824433 0.00001
NM_152564.5(VPS13B):c.8721C>T (p.Ile2907=) rs746757461 0.00001
NM_152564.5(VPS13B):c.8735A>G (p.Tyr2912Cys) rs769404310 0.00001
NM_152564.5(VPS13B):c.8741C>T (p.Pro2914Leu) rs147437490 0.00001
NM_152564.5(VPS13B):c.8756A>G (p.Gln2919Arg) rs987741026 0.00001
NM_152564.5(VPS13B):c.8757A>G (p.Gln2919=) rs1178797977 0.00001
NM_152564.5(VPS13B):c.8769C>G (p.Pro2923=) rs1814245219 0.00001
NM_152564.5(VPS13B):c.8788G>A (p.Asp2930Asn) rs2130816418 0.00001
NM_152564.5(VPS13B):c.8790C>T (p.Asp2930=) rs1315029214 0.00001
NM_152564.5(VPS13B):c.8792+14G>C rs750433575 0.00001
NM_152564.5(VPS13B):c.8792+1G>T rs1415714103 0.00001
NM_152564.5(VPS13B):c.8792+7T>C rs762084279 0.00001
NM_152564.5(VPS13B):c.8793-6G>T rs773442324 0.00001
NM_152564.5(VPS13B):c.8804T>C (p.Leu2935Pro) rs997838899 0.00001
NM_152564.5(VPS13B):c.8824A>G (p.Met2942Val) rs752484886 0.00001
NM_152564.5(VPS13B):c.8825T>C (p.Met2942Thr) rs1305759367 0.00001
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter) rs755996065 0.00001
NM_152564.5(VPS13B):c.8855A>G (p.Tyr2952Cys) rs781672422 0.00001
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219 0.00001
NM_152564.5(VPS13B):c.887A>G (p.Glu296Gly) rs1043484690 0.00001
NM_152564.5(VPS13B):c.8881C>T (p.Leu2961=) rs773387480 0.00001
NM_152564.5(VPS13B):c.8963C>T (p.Ala2988Val) rs1814277012 0.00001
NM_152564.5(VPS13B):c.8964T>C (p.Ala2988=) rs756929597 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.8995-16G>A rs772319312 0.00001
NM_152564.5(VPS13B):c.9006A>G (p.Gln3002=) rs952274759 0.00001
NM_152564.5(VPS13B):c.9023C>A (p.Ala3008Glu) rs6992059 0.00001
NM_152564.5(VPS13B):c.9039G>A (p.Val3013=) rs542823658 0.00001
NM_152564.5(VPS13B):c.9061C>T (p.Leu3021=) rs1158378699 0.00001
NM_152564.5(VPS13B):c.9062T>C (p.Leu3021Pro) rs1438344336 0.00001
NM_152564.5(VPS13B):c.910A>G (p.Asn304Asp) rs1320309593 0.00001
NM_152564.5(VPS13B):c.9121C>T (p.Leu3041=) rs1223370834 0.00001
NM_152564.5(VPS13B):c.9128A>G (p.Glu3043Gly) rs778973890 0.00001
NM_152564.5(VPS13B):c.9140T>C (p.Val3047Ala) rs1428199086 0.00001
NM_152564.5(VPS13B):c.9156A>T (p.Arg3052Ser) rs747092413 0.00001
NM_152564.5(VPS13B):c.9158T>C (p.Leu3053Pro) rs953473434 0.00001
NM_152564.5(VPS13B):c.9183+15T>C rs769666752 0.00001
NM_152564.5(VPS13B):c.9183+20G>T rs1814365152 0.00001
NM_152564.5(VPS13B):c.9183+7T>A rs1217059382 0.00001
NM_152564.5(VPS13B):c.9186A>G (p.Leu3062=) rs984224710 0.00001
NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His) rs376291996 0.00001
NM_152564.5(VPS13B):c.9237G>A (p.Gln3079=) rs1165828712 0.00001
NM_152564.5(VPS13B):c.9259A>C (p.Ile3087Leu) rs768346495 0.00001
NM_152564.5(VPS13B):c.927A>C (p.Gly309=) rs1252576777 0.00001
NM_152564.5(VPS13B):c.9298C>T (p.Leu3100=) rs780381150 0.00001
NM_152564.5(VPS13B):c.9311A>G (p.Asn3104Ser) rs1157467792 0.00001
NM_152564.5(VPS13B):c.9318T>C (p.His3106=) rs1814523122 0.00001
NM_152564.5(VPS13B):c.9328G>T (p.Glu3110Ter) rs1814523509 0.00001
NM_152564.5(VPS13B):c.9330+1G>A rs756013171 0.00001
NM_152564.5(VPS13B):c.9331-5T>C rs1431993629 0.00001
NM_152564.5(VPS13B):c.9332A>G (p.Tyr3111Cys) rs199704158 0.00001
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=) rs78277780 0.00001
NM_152564.5(VPS13B):c.9350G>A (p.Ser3117Asn) rs1236179891 0.00001
NM_152564.5(VPS13B):c.937+8A>G rs1266327291 0.00001
NM_152564.5(VPS13B):c.938-13T>C rs751563657 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.938-9A>G rs1847914020 0.00001
NM_152564.5(VPS13B):c.9386C>G (p.Pro3129Arg) rs768089068 0.00001
NM_152564.5(VPS13B):c.9399C>T (p.Ser3133=) rs773831188 0.00001
NM_152564.5(VPS13B):c.9413G>A (p.Cys3138Tyr) rs759831421 0.00001
NM_152564.5(VPS13B):c.9433A>G (p.Ile3145Val) rs756197846 0.00001
NM_152564.5(VPS13B):c.943G>A (p.Glu315Lys) rs1035761875 0.00001
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=) rs1383239374 0.00001
NM_152564.5(VPS13B):c.9456A>G (p.Ala3152=) rs1815134452 0.00001
NM_152564.5(VPS13B):c.9458C>A (p.Ser3153Tyr) rs1815134599 0.00001
NM_152564.5(VPS13B):c.9468G>A (p.Gln3156=) rs1423791832 0.00001
NM_152564.5(VPS13B):c.9475A>G (p.Ile3159Val) rs905882677 0.00001
NM_152564.5(VPS13B):c.9481C>T (p.Leu3161=) rs201494563 0.00001
NM_152564.5(VPS13B):c.9483G>A (p.Leu3161=) rs750174157 0.00001
NM_152564.5(VPS13B):c.9541G>A (p.Val3181Ile) rs904676214 0.00001
NM_152564.5(VPS13B):c.9546A>G (p.Arg3182=) rs1434707847 0.00001
NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly) rs772361332 0.00001
NM_152564.5(VPS13B):c.9568G>C (p.Val3190Leu) rs775768806 0.00001
NM_152564.5(VPS13B):c.9572C>G (p.Ala3191Gly) rs1815140494 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.9607T>C (p.Cys3203Arg) rs781004616 0.00001
NM_152564.5(VPS13B):c.9615-14T>G rs1213360815 0.00001
NM_152564.5(VPS13B):c.9615-9C>T rs1318548049 0.00001
NM_152564.5(VPS13B):c.9646G>A (p.Gly3216Arg) rs758775003 0.00001
NM_152564.5(VPS13B):c.9661A>G (p.Thr3221Ala) rs756048204 0.00001
NM_152564.5(VPS13B):c.9662C>A (p.Thr3221Asn) rs143852398 0.00001
NM_152564.5(VPS13B):c.9686G>A (p.Arg3229Gln) rs769856598 0.00001
NM_152564.5(VPS13B):c.969A>G (p.Gln323=) rs1443301786 0.00001
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter) rs1243094816 0.00001
NM_152564.5(VPS13B):c.9742+12A>G rs763822536 0.00001
NM_152564.5(VPS13B):c.9742+15A>G rs780396264 0.00001
NM_152564.5(VPS13B):c.9742+17C>T rs948072532 0.00001
NM_152564.5(VPS13B):c.9742+3A>G rs375183964 0.00001
NM_152564.5(VPS13B):c.9743-10A>T rs1333411758 0.00001
NM_152564.5(VPS13B):c.9748C>G (p.Pro3250Ala) rs1295909129 0.00001
NM_152564.5(VPS13B):c.9749C>T (p.Pro3250Leu) rs761208848 0.00001
NM_152564.5(VPS13B):c.9750A>G (p.Pro3250=) rs764864362 0.00001
NM_152564.5(VPS13B):c.9775A>T (p.Ile3259Phe) rs1425945549 0.00001
NM_152564.5(VPS13B):c.9782C>T (p.Ser3261Phe) rs1372759268 0.00001
NM_152564.5(VPS13B):c.9792A>G (p.Ser3264=) rs1481681988 0.00001
NM_152564.5(VPS13B):c.9807G>A (p.Leu3269=) rs1402777361 0.00001
NM_152564.5(VPS13B):c.984T>A (p.His328Gln) rs769062076 0.00001
NM_152564.5(VPS13B):c.9856C>G (p.Pro3286Ala) rs1203805675 0.00001
NM_152564.5(VPS13B):c.9920A>G (p.Asp3307Gly) rs1400316930 0.00001
NM_152564.5(VPS13B):c.993A>G (p.Gln331=) rs374781096 0.00001
NM_152564.5(VPS13B):c.9941A>G (p.Gln3314Arg) rs558911841 0.00001
NM_152564.5(VPS13B):c.9942+20C>T rs1490242319 0.00001
NM_152564.5(VPS13B):c.9942+7G>C rs528134335 0.00001
NM_152564.5(VPS13B):c.9952C>T (p.Leu3318=) rs1237532697 0.00001
NM_152564.5(VPS13B):c.9957T>C (p.Thr3319=) rs560490673 0.00001
NM_152564.5(VPS13B):c.995A>G (p.Glu332Gly) rs1243904228 0.00001
NM_152564.5(VPS13B):c.9968A>G (p.Tyr3323Cys) rs376549169 0.00001
NM_152564.5(VPS13B):c.9974A>G (p.Tyr3325Cys) rs780352522 0.00001
NM_152564.5(VPS13B):c.9975T>C (p.Tyr3325=) rs369522130 0.00001
NM_152564.5(VPS13B):c.9976G>A (p.Val3326Met) rs754882929 0.00001
GRCh37/hg19 8q22.2(chr8:100067471-100156392)
GRCh37/hg19 8q22.2(chr8:100108619-100160324)
GRCh37/hg19 8q22.2(chr8:100123326-100182391)
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1
GRCh37/hg19 8q22.2(chr8:100168626-100298366)
GRCh37/hg19 8q22.2(chr8:100232749-100493790)
GRCh37/hg19 8q22.2(chr8:100274176-100477297)
GRCh37/hg19 8q22.2(chr8:100479441-100545102)
GRCh37/hg19 8q22.2(chr8:100587642-100712137)
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
NC_000008.10:g.(100568882_100587885)_(100789185_100790909)del
NC_000008.10:g.(100568882_100587885)_(100791260_100796542)del
NC_000008.10:g.(?_100025484)_(100026173_?)del
NC_000008.10:g.(?_100025997)_(100133735_?)dup
NC_000008.10:g.(?_100026017)_(100026183_?)del
NC_000008.10:g.(?_100026017)_(100026183_?)dup
NC_000008.10:g.(?_100026017)_(100133693_?)dup
NC_000008.10:g.(?_100026017)_(100149000_?)dup
NC_000008.10:g.(?_100026017)_(100287502_?)dup
NC_000008.10:g.(?_100026017)_(100887894_?)del
NC_000008.10:g.(?_100050631)_(100115368_?)del
NC_000008.10:g.(?_100050631)_(100128122_?)dup
NC_000008.10:g.(?_100050631)_(100155413_?)del
NC_000008.10:g.(?_100050631)_(100205305_?)del
NC_000008.10:g.(?_100050631)_(100287502_?)dup
NC_000008.10:g.(?_100050631)_(100396565_?)dup
NC_000008.10:g.(?_100050713)_(100057034_?)del
NC_000008.10:g.(?_100108520)_(100108680_?)del
NC_000008.10:g.(?_100108520)_(100115368_?)del
NC_000008.10:g.(?_100108520)_(100155413_?)dup
NC_000008.10:g.(?_100108520)_(100205305_?)dup
NC_000008.10:g.(?_100108520)_(100403952_?)del
NC_000008.10:g.(?_100108530)_(100128112_?)del
NC_000008.10:g.(?_100108530)_(100155403_?)dup
NC_000008.10:g.(?_100108530)_(100182401_?)del
NC_000008.10:g.(?_100108530)_(100182401_?)dup
NC_000008.10:g.(?_100108530)_(100205295_?)del
NC_000008.10:g.(?_100108530)_(100287492_?)del
NC_000008.10:g.(?_100108530)_(100494040_?)del
NC_000008.10:g.(?_100115161)_(100123527_?)del
NC_000008.10:g.(?_100115944)_(100711757_?)del
NC_000008.10:g.(?_100123306)_(100133735_?)dup
NC_000008.10:g.(?_100123306)_(100168991_?)del
NC_000008.10:g.(?_100123306)_(100182411_?)del
NC_000008.10:g.(?_100123306)_(100403952_?)del
NC_000008.10:g.(?_100123316)_(100123517_?)del
NC_000008.10:g.(?_100127908)_(100287502_?)del
NC_000008.10:g.(?_100133385)_(100133693_?)del
NC_000008.10:g.(?_100133385)_(100160258_?)dup
NC_000008.10:g.(?_100133395)_(100134000_?)del
NC_000008.10:g.(?_100146840)_(100403952_?)del
NC_000008.10:g.(?_100146850)_(100221906_?)del
NC_000008.10:g.(?_100146850)_(100287492_?)del
NC_000008.10:g.(?_100146850)_(100533248_?)del
NC_000008.10:g.(?_100147223)_(100155413_?)del
NC_000008.10:g.(?_100155192)_(100287492_?)del
NC_000008.10:g.(?_100155202)_(100221801_?)del
NC_000008.10:g.(?_100157931)_(100160219_?)del
NC_000008.10:g.(?_100160049)_(100160258_?)del
NC_000008.10:g.(?_100160049)_(100168991_?)del
NC_000008.10:g.(?_100162579)_(100168929_?)del
NC_000008.10:g.(?_100168757)_(100168991_?)del
NC_000008.10:g.(?_100168757)_(100205305_?)del
NC_000008.10:g.(?_100182247)_(100403952_?)del
NC_000008.10:g.(?_100182247)_(100589881_?)del
NC_000008.10:g.(?_100182257)_(100221906_?)del
NC_000008.10:g.(?_100182257)_(100287492_?)del
NC_000008.10:g.(?_100182257)_(100479872_?)del
NC_000008.10:g.(?_100205084)_(100205305_?)del
NC_000008.10:g.(?_100205084)_(100454883_?)del
NC_000008.10:g.(?_100205084)_(100589881_?)del
NC_000008.10:g.(?_100205094)_(100205295_?)dup
NC_000008.10:g.(?_100205094)_(100287492_?)del
NC_000008.10:g.(?_100205094)_(100287492_?)dup
NC_000008.10:g.(?_100205094)_(100733285_?)del
NC_000008.10:g.(?_100286406)_(100287502_?)del
NC_000008.10:g.(?_100286406)_(100494050_?)del
NC_000008.10:g.(?_100286406)_(100515198_?)del
NC_000008.10:g.(?_100286406)_(100520159_?)del
NC_000008.10:g.(?_100286406)_(100523760_?)del
NC_000008.10:g.(?_100286406)_(100533258_?)del
NC_000008.10:g.(?_100286406)_(100874194_?)del
NC_000008.10:g.(?_100286416)_(100454873_?)del
NC_000008.10:g.(?_100286416)_(100568891_?)del
NC_000008.10:g.(?_100286416)_(100673729_?)del
NC_000008.10:g.(?_100286416)_(100821768_?)del
NC_000008.10:g.(?_100396416)_(100396565_?)del
NC_000008.10:g.(?_100396416)_(100443912_?)del
NC_000008.10:g.(?_100396416)_(100479882_?)del
NC_000008.10:g.(?_100396416)_(100515198_?)del
NC_000008.10:g.(?_100396426)_(100403942_?)del
NC_000008.10:g.(?_100396426)_(100454873_?)del
NC_000008.10:g.(?_100396426)_(100479872_?)dup
NC_000008.10:g.(?_100396426)_(100523750_?)del
NC_000008.10:g.(?_100396426)_(100589871_?)del
NC_000008.10:g.(?_100403765)_(100403952_?)del
NC_000008.10:g.(?_100403765)_(100403952_?)dup
NC_000008.10:g.(?_100443745)_(100443912_?)del
NC_000008.10:g.(?_100443745)_(100454883_?)del
NC_000008.10:g.(?_100443745)_(100533258_?)dup
NC_000008.10:g.(?_100443745)_(100589881_?)del
NC_000008.10:g.(?_100443755)_(100443902_?)dup
NC_000008.10:g.(?_100443755)_(100568891_?)del
NC_000008.10:g.(?_100454609)_(100589881_?)del
NC_000008.10:g.(?_100454619)_(100533248_?)del
NC_000008.10:g.(?_100454619)_(100673729_?)del
NC_000008.10:g.(?_100479254)_(100479653_?)del
NC_000008.10:g.(?_100479619)_(100533258_?)del
NC_000008.10:g.(?_100479622)_(100479882_?)del
NC_000008.10:g.(?_100479622)_(100533258_?)del
NC_000008.10:g.(?_100479622)_(100589881_?)del
NC_000008.10:g.(?_100479632)_(100494040_?)del
NC_000008.10:g.(?_100493807)_(100533258_?)del
NC_000008.10:g.(?_100493807)_(100729621_?)del
NC_000008.10:g.(?_100493817)_(100588022_?)del
NC_000008.10:g.(?_100513905)_(100514096_?)del
NC_000008.10:g.(?_100515082)_(100516199_?)del
NC_000008.10:g.(?_100515082)_(100589871_?)del
NC_000008.10:g.(?_100519978)_(100533258_?)del
NC_000008.10:g.(?_100523312)_(100779218_?)del
NC_000008.10:g.(?_100533107)_(100588032_?)del
NC_000008.10:g.(?_100533107)_(100589881_?)del
NC_000008.10:g.(?_100533107)_(100733295_?)del
NC_000008.10:g.(?_100533117)_(100568891_?)del
NC_000008.10:g.(?_100568668)_(100568891_?)del
NC_000008.10:g.(?_100568668)_(100589871_?)del
NC_000008.10:g.(?_100568668)_(100654736_?)del
NC_000008.10:g.(?_100568668)_(100673729_?)del
NC_000008.10:g.(?_100568668)_(100673729_?)dup
NC_000008.10:g.(?_100587866)_(100589881_?)del
NC_000008.10:g.(?_100587866)_(100589881_?)dup
NC_000008.10:g.(?_100587866)_(100712180_?)del
NC_000008.10:g.(?_100654019)_(100673739_?)del
NC_000008.10:g.(?_100654019)_(100887894_?)del
NC_000008.10:g.(?_100654029)_(100654736_?)del
NC_000008.10:g.(?_100654029)_(100654736_?)dup
NC_000008.10:g.(?_100654029)_(100673729_?)del
NC_000008.10:g.(?_100654029)_(100712170_?)del
NC_000008.10:g.(?_100654029)_(100733285_?)del
NC_000008.10:g.(?_100673562)_(100847986_?)dup
NC_000008.10:g.(?_100711733)_(100796724_?)del
NC_000008.10:g.(?_100711743)_(100712170_?)del
NC_000008.10:g.(?_100711743)_(100733285_?)del
NC_000008.10:g.(?_100778144)_(100779154_?)del
NC_000008.10:g.(?_100778992)_(100779208_?)del
NC_000008.10:g.(?_100781239)_(100789156_?)del
NC_000008.10:g.(?_100788983)_(100791279_?)del
NC_000008.10:g.(?_100790890)_(100836226_?)dup
NC_000008.10:g.(?_100821583)_(100821778_?)del
NC_000008.10:g.(?_100821603)_(100821758_?)del
NC_000008.10:g.(?_100830669)_(100833720_?)del
NC_000008.10:g.(?_100860984)_(100866504_?)del
NC_000008.10:g.(?_100880497)_(100887894_?)del
NC_000008.10:g.(?_100882993)_(100883945_?)del
NC_000008.10:g.(?_100882993)_(100883945_?)dup
NC_000008.10:g.(?_100883666)_(100883935_?)del
NC_000008.10:g.(?_99135566)_(100205305_?)dup
NC_000008.10:g.(?_99135566)_(106815766_?)dup
NC_000008.10:g.(?_99346108)_(100589843_?)del
NC_000008.10:g.(?_99594279)_(100513908_?)del
NC_000008.10:g.100246250_100460500del
NC_000008.11:g.(?_99013769)_(99209688_?)del
NC_000008.11:g.(?_99013769)_(99875686_?)dup
NC_000008.11:g.(?_99096292)_(99156763_?)del
NC_000008.11:g.(?_99096292)_(99193077_?)del
NC_000008.11:g.(?_99096292)_(99577653_?)del
NC_000008.11:g.(?_99096302)_(99136762_?)del
NC_000008.11:g.(?_99096302)_(99556663_?)del
NC_000008.11:g.(?_99096312)_(99148010_?)del
NC_000008.11:g.(?_99102933)_(99103140_?)del
NC_000008.11:g.(?_99102933)_(99209688_?)del
NC_000008.11:g.(?_99102953)_(99170163_?)del
NC_000008.11:g.(?_99111088)_(99170173_?)del
NC_000008.11:g.(?_99115680)_(99193077_?)del
NC_000008.11:g.(?_99121157)_(99193077_?)del
NC_000008.11:g.(?_99121167)_(99721057_?)del
NC_000008.11:g.(?_99134612)_(99136772_?)del
NC_000008.11:g.(?_99134631)_(99511512_?)dup
NC_000008.11:g.(?_99135005)_(99143175_?)del
NC_000008.11:g.(?_99135015)_(99143165_?)del
NC_000008.11:g.(?_99142974)_(99143165_?)del
NC_000008.11:g.(?_99170039)_(99170163_?)del
NC_000008.11:g.(?_99192876)_(99209768_?)dup
NC_000008.11:g.(?_99209572)_(99391724_?)del
NC_000008.11:g.(?_99209582)_(99275264_?)del
NC_000008.11:g.(?_99274178)_(99577653_?)del
NC_000008.11:g.(?_99274178)_(99721067_?)del
NC_000008.11:g.(?_99384188)_(99511532_?)del
NC_000008.11:g.(?_99384188)_(99721067_?)del
NC_000008.11:g.(?_99391537)_(99521030_?)del
NC_000008.11:g.(?_99391557)_(99556653_?)del
NC_000008.11:g.(?_99431517)_(99721067_?)del
NC_000008.11:g.(?_99467404)_(99521020_?)del
NC_000008.11:g.(?_99481579)_(99721067_?)del
NC_000008.11:g.(?_99501677)_(99502960_?)del
NC_000008.11:g.(?_99520889)_(99521020_?)del
NC_000008.11:g.(?_99520899)_(99584089_?)del
NC_000008.11:g.(?_99556430)_(99577653_?)del
NC_000008.11:g.(?_99556430)_(99642518_?)del
NC_000008.11:g.(?_99661334)_(99661511_?)del
NC_000008.11:g.(?_99661344)_(99784486_?)del
NC_000008.11:g.(?_99766774)_(99784476_?)dup
NG_007098.2:g.(809539_810185)_(813218_815566)del
NG_007098.2:g.(94856_102832)_(161899_184610)del
NM_017890.4(VPS13B):c.10018_10021delGTTG rs1554579522
NM_017890.4(VPS13B):c.6733_6748del16
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4:c.3542_3543ins5
NM_017890.4:c.7128_7129ins5
NM_017890.5(VPS13B):c.4158-2A>G rs2133626470
NM_017890.5(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs) rs1554824897
NM_017890.5(VPS13B):c.4164G>A (p.Gly1388=) rs2133626492
NM_017890.5(VPS13B):c.4165G>T (p.Glu1389Ter) rs1821577573
NM_017890.5(VPS13B):c.4168G>T (p.Glu1390Ter)
NM_017890.5(VPS13B):c.4176G>A (p.Trp1392Ter) rs2490496771
NM_017890.5(VPS13B):c.4188A>T (p.Gln1396His) rs768432188
NM_017890.5(VPS13B):c.4194A>T (p.Gly1398=) rs1554824934
NM_017890.5(VPS13B):c.4196G>A (p.Gly1399Asp) rs1554824936
NM_017890.5(VPS13B):c.4200C>T (p.Val1400=) rs398124333
NM_017890.5(VPS13B):c.4205T>G (p.Leu1402Arg) rs2133626664
NM_017890.5(VPS13B):c.4206T>C (p.Leu1402=) rs2490497117
NM_017890.5(VPS13B):c.4207del (p.Ser1403fs) rs1436874013
NM_017890.5(VPS13B):c.4208C>T (p.Ser1403Phe) rs2133626671
NM_017890.5(VPS13B):c.4215T>G (p.Thr1405=) rs1455372294
NM_017890.5(VPS13B):c.4221G>A (p.Lys1407=) rs991436973
NM_017890.5(VPS13B):c.4225A>G (p.Asn1409Asp) rs887169588
NM_017890.5(VPS13B):c.4228_4231dup (p.Arg1411fs) rs1554824976
NM_017890.5(VPS13B):c.4230A>G (p.Arg1410=)
NM_017890.5(VPS13B):c.4233dup (p.Thr1412fs) rs2133626786
NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn) rs1554824983
NM_017890.5(VPS13B):c.4236C>A (p.Thr1412=) rs1208581851
NM_017890.5(VPS13B):c.4236C>T (p.Thr1412=) rs1208581851
NM_017890.5(VPS13B):c.4248A>G (p.Arg1416=) rs1554825004
NM_017890.5(VPS13B):c.4250C>G (p.Pro1417Arg) rs1554825009
NM_017890.5(VPS13B):c.4255A>C (p.Ser1419Arg) rs1821583064
NM_017890.5(VPS13B):c.4260G>A (p.Lys1420=) rs1183099236
NM_017890.5(VPS13B):c.4272C>G (p.Phe1424Leu) rs1554825023
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_017890.5(VPS13B):c.4293T>C (p.Phe1431=) rs2133626942
NM_152564.5(VPS13B):c.*1101TGAT[3] rs543048641
NM_152564.5(VPS13B):c.*1106_*1108dup rs765534822
NM_152564.5(VPS13B):c.*1211G>A rs1025183545
NM_152564.5(VPS13B):c.*1212TC[4] rs1258731393
NM_152564.5(VPS13B):c.*1431G>A rs866313484
NM_152564.5(VPS13B):c.*1483C>A rs886062558
NM_152564.5(VPS13B):c.*1504_*1507dup rs747583708
NM_152564.5(VPS13B):c.*1570G>A rs186440514
NM_152564.5(VPS13B):c.*1571A>G rs1817736511
NM_152564.5(VPS13B):c.*250_*252dup rs71274940
NM_152564.5(VPS13B):c.*270C>T rs886062550
NM_152564.5(VPS13B):c.*33_*36dup rs373852425
NM_152564.5(VPS13B):c.*374ATTT[1] rs374440758
NM_152564.5(VPS13B):c.*431TTA[1] rs10542428
NM_152564.5(VPS13B):c.*597_*598dup rs397791669
NM_152564.5(VPS13B):c.*700GAT[1] rs60078732
NM_152564.5(VPS13B):c.*701A>T rs932121133
NM_152564.5(VPS13B):c.*740G>C rs886062556
NM_152564.5(VPS13B):c.-30+5G>A rs2488079654
NM_152564.5(VPS13B):c.-30+6C>G rs147672364
NM_152564.5(VPS13B):c.10000_10019dup (p.Pro3341fs) rs2130902516
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.10002A>G (p.Thr3334=) rs2492203101
NM_152564.5(VPS13B):c.10008C>T (p.Phe3336=) rs1816114271
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met) rs542986432
NM_152564.5(VPS13B):c.10018G>A (p.Ala3340Thr) rs1816114703
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10020C>A (p.Ala3340=) rs1816114798
NM_152564.5(VPS13B):c.1002T>C (p.Tyr334=) rs1057519182
NM_152564.5(VPS13B):c.10035dup (p.Gly3346fs)
NM_152564.5(VPS13B):c.10037G>C (p.Gly3346Ala) rs2130902601
NM_152564.5(VPS13B):c.10038A>G (p.Gly3346=) rs2492203229
NM_152564.5(VPS13B):c.10039C>A (p.Pro3347Thr)
NM_152564.5(VPS13B):c.10050C>A (p.Thr3350=) rs2492203308
NM_152564.5(VPS13B):c.10053T>C (p.Asn3351=) rs1393247141
NM_152564.5(VPS13B):c.10056C>T (p.Thr3352=) rs2130902671
NM_152564.5(VPS13B):c.10059C>G (p.Asn3353Lys) rs1816116104
NM_152564.5(VPS13B):c.1005A>G (p.Ser335=) rs1282225081
NM_152564.5(VPS13B):c.10061+10A>G rs1482823502
NM_152564.5(VPS13B):c.10061+10A>T rs1482823502
NM_152564.5(VPS13B):c.10061+10_10061+13del rs2130902722
NM_152564.5(VPS13B):c.10061+16T>G rs2492203564
NM_152564.5(VPS13B):c.10061+20C>G rs1415575408
NM_152564.5(VPS13B):c.10061+20C>T rs1415575408
NM_152564.5(VPS13B):c.10061+4G>C rs964791071
NM_152564.5(VPS13B):c.10062-13C>T rs773907481
NM_152564.5(VPS13B):c.10062-13del rs2492235490
NM_152564.5(VPS13B):c.10062-17G>A rs2492235438
NM_152564.5(VPS13B):c.10062-20C>A rs1487388065
NM_152564.5(VPS13B):c.10062-2A>G rs1554581156
NM_152564.5(VPS13B):c.10062-4C>T rs1217688828
NM_152564.5(VPS13B):c.10062-6_10062-4del rs2492235653
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=) rs61753726
NM_152564.5(VPS13B):c.10069G>A (p.Glu3357Lys) rs1563509434
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter) rs1554625617
NM_152564.5(VPS13B):c.10080del (p.Thr3361fs) rs778380938
NM_152564.5(VPS13B):c.10087A>T (p.Lys3363Ter) rs1816395005
NM_152564.5(VPS13B):c.1008G>C (p.Gln336His) rs2132515981
NM_152564.5(VPS13B):c.10095C>T (p.Phe3365=) rs2492236023
NM_152564.5(VPS13B):c.10104G>C (p.Gln3368His) rs752625401
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter) rs1057516437
NM_152564.5(VPS13B):c.10110C>T (p.Ser3370=) rs755978152
NM_152564.5(VPS13B):c.10113G>T (p.Leu3371=) rs1816396084
NM_152564.5(VPS13B):c.10120T>C (p.Phe3374Leu)
NM_152564.5(VPS13B):c.10128C>T (p.Asp3376=) rs2492236315
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe) rs535553836
NM_152564.5(VPS13B):c.10134C>T (p.Thr3378=) rs2492236343
NM_152564.5(VPS13B):c.10137C>T (p.His3379=) rs2130916576
NM_152564.5(VPS13B):c.10138C>A (p.His3380Asn) rs2492236378
NM_152564.5(VPS13B):c.10140C>G (p.His3380Gln) rs1309702539
NM_152564.5(VPS13B):c.10140C>T (p.His3380=)
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter) rs1014479884
NM_152564.5(VPS13B):c.10149A>T (p.Ser3383=) rs1816398226
NM_152564.5(VPS13B):c.1014T>C (p.Asp338=) rs1588060541
NM_152564.5(VPS13B):c.10152T>C (p.Ala3384=) rs374129601
NM_152564.5(VPS13B):c.10158T>C (p.Leu3386=)
NM_152564.5(VPS13B):c.10159C>G (p.Leu3387Val) rs2130916651
NM_152564.5(VPS13B):c.10159C>T (p.Leu3387=) rs2130916651
NM_152564.5(VPS13B):c.10161_10170del (p.Arg3388fs) rs2492236593
NM_152564.5(VPS13B):c.10165_10207del (p.Leu3389fs) rs875989882
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.10169C>G (p.Thr3390Arg) rs767783667
NM_152564.5(VPS13B):c.10170A>C (p.Thr3390=) rs2492236639
NM_152564.5(VPS13B):c.10171C>G (p.Leu3391Val)
NM_152564.5(VPS13B):c.10171C>T (p.Leu3391=) rs2130916698
NM_152564.5(VPS13B):c.10173G>A (p.Leu3391=) rs1588786090
NM_152564.5(VPS13B):c.10175ACA[1] (p.Asn3393del) rs1554581280
NM_152564.5(VPS13B):c.1018_1045del (p.Glu340fs)
NM_152564.5(VPS13B):c.10193T>C (p.Val3398Ala) rs953219294
NM_152564.5(VPS13B):c.10194G>A (p.Val3398=) rs2130916746
NM_152564.5(VPS13B):c.10197C>T (p.Ala3399=) rs1816400490
NM_152564.5(VPS13B):c.10198C>T (p.Pro3400Ser) rs1816400653
NM_152564.5(VPS13B):c.10199C>G (p.Pro3400Arg) rs368041601
NM_152564.5(VPS13B):c.10203A>T (p.Gly3401=) rs2492236912
NM_152564.5(VPS13B):c.10208G>A (p.Gly3403Asp) rs2492236936
NM_152564.5(VPS13B):c.10209dup (p.Pro3404fs) rs2492236950
NM_152564.5(VPS13B):c.1020G>A (p.Glu340=) rs1588060551
NM_152564.5(VPS13B):c.10215C>T (p.Leu3405=) rs2492236975
NM_152564.5(VPS13B):c.10222G>A (p.Glu3408Lys)
NM_152564.5(VPS13B):c.10227G>A (p.Glu3409=) rs2130916876
NM_152564.5(VPS13B):c.10232T>G (p.Val3411Gly) rs2492237119
NM_152564.5(VPS13B):c.10233G>A (p.Val3411=) rs2492237126
NM_152564.5(VPS13B):c.10233G>C (p.Val3411=) rs2492237126
NM_152564.5(VPS13B):c.10242G>T (p.Leu3414Phe) rs746258724
NM_152564.5(VPS13B):c.10246G>A (p.Glu3416Lys) rs2492237263
NM_152564.5(VPS13B):c.10251T>G (p.Leu3417=) rs1187238292
NM_152564.5(VPS13B):c.10257T>C (p.Cys3419=) rs764214907
NM_152564.5(VPS13B):c.1025C>T (p.Pro342Leu) rs138271331
NM_152564.5(VPS13B):c.10263G>A (p.Glu3421=) rs2492237441
NM_152564.5(VPS13B):c.10266C>T (p.Ile3422=) rs2492237453
NM_152564.5(VPS13B):c.10270T>G (p.Cys3424Gly) rs2130917061
NM_152564.5(VPS13B):c.10272T>A (p.Cys3424Ter) rs2492237494
NM_152564.5(VPS13B):c.10272T>C (p.Cys3424=) rs2492237494
NM_152564.5(VPS13B):c.10274G>C (p.Gly3425Ala) rs1816406076
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter) rs1554625632
NM_152564.5(VPS13B):c.10281del (p.Gln3428fs)
NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter) rs2492237556
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs) rs1563509743
NM_152564.5(VPS13B):c.10297C>T (p.Leu3433Phe) rs1816407178
NM_152564.5(VPS13B):c.10302T>A (p.Tyr3434Ter) rs2492237648
NM_152564.5(VPS13B):c.10320C>T (p.His3440=) rs747699484
NM_152564.5(VPS13B):c.10325C>T (p.Ala3442Val) rs2492237760
NM_152564.5(VPS13B):c.10326T>G (p.Ala3442=) rs2130917205
NM_152564.5(VPS13B):c.10327del (p.Val3443fs) rs1816408985
NM_152564.5(VPS13B):c.10337G>T (p.Cys3446Phe) rs1260587896
NM_152564.5(VPS13B):c.10344A>G (p.Gly3448=) rs2492237866
NM_152564.5(VPS13B):c.1034G>A (p.Trp345Ter) rs2488710351
NM_152564.5(VPS13B):c.10351G>A (p.Ala3451Thr) rs1343470928
NM_152564.5(VPS13B):c.10352_10354del (p.Ala3451del) rs1554581420
NM_152564.5(VPS13B):c.10356A>G (p.Glu3452=) rs2130917266
NM_152564.5(VPS13B):c.10359C>T (p.Pro3453=) rs1444426292
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs) rs1554581430
NM_152564.5(VPS13B):c.10371C>T (p.Ser3457=) rs2492237969
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.10384C>G (p.Leu3462Val) rs761972356
NM_152564.5(VPS13B):c.10386C>G (p.Leu3462=) rs2492238051
NM_152564.5(VPS13B):c.10389C>A (p.Leu3463=) rs1816412893
NM_152564.5(VPS13B):c.1038G>T (p.Val346=) rs2488710374
NM_152564.5(VPS13B):c.10401del (p.Glu3468fs)
NM_152564.5(VPS13B):c.10403A>G (p.Glu3468Gly) rs2130917390
NM_152564.5(VPS13B):c.1040C>T (p.Ser347Leu) rs763016471
NM_152564.5(VPS13B):c.1040del (p.Ser347fs) rs1057516971
NM_152564.5(VPS13B):c.10413A>G (p.Glu3471=) rs2492238247
NM_152564.5(VPS13B):c.10414T>C (p.Tyr3472His) rs1816414341
NM_152564.5(VPS13B):c.10419G>A (p.Lys3473=) rs2130917440
NM_152564.5(VPS13B):c.1041A>T (p.Ser347=) rs149176010
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs) rs1816414644
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg) rs886062549
NM_152564.5(VPS13B):c.1043G>A (p.Trp348Ter) rs2132516120
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs) rs1554581504
NM_152564.5(VPS13B):c.10449C>T (p.Thr3483=) rs1198101483
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) rs1847921335
NM_152564.5(VPS13B):c.10455T>C (p.Asn3485=) rs2130917547
NM_152564.5(VPS13B):c.10455T>G (p.Asn3485Lys) rs2130917547
NM_152564.5(VPS13B):c.10458A>G (p.Glu3486=) rs2130917565
NM_152564.5(VPS13B):c.10459G>A (p.Gly3487Ser) rs780327800
NM_152564.5(VPS13B):c.1045G>A (p.Ala349Thr) rs2488710417
NM_152564.5(VPS13B):c.10461C>G (p.Gly3487=) rs2492238627
NM_152564.5(VPS13B):c.10468A>G (p.Ile3490Val) rs398124325
NM_152564.5(VPS13B):c.10470C>T (p.Ile3490=) rs372875604
NM_152564.5(VPS13B):c.10476T>C (p.Cys3492=) rs1816417309
NM_152564.5(VPS13B):c.1047C>T (p.Ala349=) rs751477638
NM_152564.5(VPS13B):c.10481T>A (p.Ile3494Asn) rs1419927739
NM_152564.5(VPS13B):c.10497T>C (p.Phe3499=) rs781420614
NM_152564.5(VPS13B):c.10497T>G (p.Phe3499Leu) rs781420614
NM_152564.5(VPS13B):c.10498G>T (p.Glu3500Ter)
NM_152564.5(VPS13B):c.10501T>C (p.Leu3501=) rs1385686343
NM_152564.5(VPS13B):c.10510G>C (p.Ala3504Pro) rs2130917686
NM_152564.5(VPS13B):c.10513C>A (p.Arg3505=) rs763017122
NM_152564.5(VPS13B):c.10514G>A (p.Arg3505Gln) rs770999005
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu) rs770999005
NM_152564.5(VPS13B):c.10518A>G (p.Leu3506=) rs759427770
NM_152564.5(VPS13B):c.10533A>C (p.Thr3511=) rs763725361
NM_152564.5(VPS13B):c.10538T>C (p.Val3513Ala) rs1816420784
NM_152564.5(VPS13B):c.10539A>T (p.Val3513=) rs753290639
NM_152564.5(VPS13B):c.1053C>G (p.Ser351=)
NM_152564.5(VPS13B):c.10540T>C (p.Tyr3514His) rs1440017130
NM_152564.5(VPS13B):c.10544A>G (p.Tyr3515Cys) rs1816421633
NM_152564.5(VPS13B):c.10544_10545delinsGA (p.Tyr3515Ter) rs2492239255
NM_152564.5(VPS13B):c.10555T>G (p.Leu3519Val) rs755371144
NM_152564.5(VPS13B):c.10555_10556del (p.Leu3519fs) rs1554581632
NM_152564.5(VPS13B):c.10557G>A (p.Leu3519=) rs2130917868
NM_152564.5(VPS13B):c.10557del (p.Leu3519fs) rs1816422602
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.10563C>T (p.Asp3521=) rs2492239357
NM_152564.5(VPS13B):c.1056T>G (p.Phe352Leu) rs2488710428
NM_152564.5(VPS13B):c.10570C>T (p.Leu3524Phe) rs2130917896
NM_152564.5(VPS13B):c.10572T>G (p.Leu3524=)
NM_152564.5(VPS13B):c.10578C>T (p.Asn3526=) rs148265212
NM_152564.5(VPS13B):c.10579A>C (p.Ser3527Arg) rs1816423653
NM_152564.5(VPS13B):c.10581C>T (p.Ser3527=) rs770945510
NM_152564.5(VPS13B):c.10594C>G (p.His3532Asp) rs1588786822
NM_152564.5(VPS13B):c.10597T>C (p.Ser3533Pro)
NM_152564.5(VPS13B):c.1059G>A (p.Val353=) rs1847921410
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.10604A>G (p.His3535Arg)
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs) rs1554581676
NM_152564.5(VPS13B):c.10605C>T (p.His3535=) rs937349095
NM_152564.5(VPS13B):c.10613G>A (p.Gly3538Glu) rs1178697872
NM_152564.5(VPS13B):c.1061C>T (p.Pro354Leu) rs1274673849
NM_152564.5(VPS13B):c.10629G>A (p.Leu3543=) rs2492239738
NM_152564.5(VPS13B):c.10633A>C (p.Met3545Leu) rs781672013
NM_152564.5(VPS13B):c.10634T>A (p.Met3545Lys) rs1816426749
NM_152564.5(VPS13B):c.10636C>T (p.Gln3546Ter) rs1672138655
NM_152564.5(VPS13B):c.10638G>A (p.Gln3546=) rs1816427025
NM_152564.5(VPS13B):c.10644A>G (p.Thr3548=) rs2130918119
NM_152564.5(VPS13B):c.10644A>T (p.Thr3548=) rs2130918119
NM_152564.5(VPS13B):c.10650C>G (p.His3550Gln) rs372367817
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=) rs2492239981
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter) rs2492239989
NM_152564.5(VPS13B):c.10664T>C (p.Val3555Ala) rs2130918209
NM_152564.5(VPS13B):c.10667A>C (p.Asn3556Thr) rs2492240015
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs) rs1057517137
NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter) rs2492240037
NM_152564.5(VPS13B):c.10680A>G (p.Leu3560=) rs779816885
NM_152564.5(VPS13B):c.10681C>A (p.Arg3561=) rs200232124
NM_152564.5(VPS13B):c.10689G>A (p.Leu3563=) rs1482772027
NM_152564.5(VPS13B):c.10696C>T (p.Gln3566Ter) rs2130918298
NM_152564.5(VPS13B):c.10705A>G (p.Asn3569Asp) rs2130918326
NM_152564.5(VPS13B):c.10707T>C (p.Asn3569=) rs2492240244
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs) rs1554625693
NM_152564.5(VPS13B):c.10726G>A (p.Ala3576Thr) rs779069069
NM_152564.5(VPS13B):c.10728T>C (p.Ala3576=) rs2492240401
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10739T>C (p.Leu3580Pro) rs2492240476
NM_152564.5(VPS13B):c.10740G>A (p.Leu3580=) rs768333660
NM_152564.5(VPS13B):c.10740G>T (p.Leu3580=) rs768333660
NM_152564.5(VPS13B):c.10743C>T (p.Tyr3581=) rs2492240504
NM_152564.5(VPS13B):c.10749C>T (p.Ala3583=) rs2130918435
NM_152564.5(VPS13B):c.1075T>C (p.Tyr359His) rs2488710488
NM_152564.5(VPS13B):c.10761T>C (p.Thr3587=) rs2492240636
NM_152564.5(VPS13B):c.10763C>G (p.Pro3588Arg) rs2492240660
NM_152564.5(VPS13B):c.10764T>G (p.Pro3588=) rs1477900241
NM_152564.5(VPS13B):c.10765C>G (p.Leu3589Val) rs551114360
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs) rs386834056
NM_152564.5(VPS13B):c.10770C>T (p.Ser3590=) rs2492240708
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del) rs1554581821
NM_152564.5(VPS13B):c.10775C>T (p.Ser3592Leu) rs2492240729
NM_152564.5(VPS13B):c.10776G>C (p.Ser3592=) rs547516730
NM_152564.5(VPS13B):c.10779G>A (p.Val3593=) rs2130918492
NM_152564.5(VPS13B):c.10787G>T (p.Arg3596Ile) rs1256634962
NM_152564.5(VPS13B):c.10791A>G (p.Gly3597=) rs985145622
NM_152564.5(VPS13B):c.10794C>G (p.Pro3598=) rs776249260
NM_152564.5(VPS13B):c.10794C>T (p.Pro3598=) rs776249260
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs) rs1057516274
NM_152564.5(VPS13B):c.107T>A (p.Val36Glu) rs1433110217
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs) rs1554561356
NM_152564.5(VPS13B):c.10800C>T (p.Phe3600=) rs772653964
NM_152564.5(VPS13B):c.10804A>T (p.Thr3602Ser) rs2492240955
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle) rs2492240973
NM_152564.5(VPS13B):c.10808C>G (p.Ala3603Gly) rs762394387
NM_152564.5(VPS13B):c.1080C>T (p.Asp360=) rs755878394
NM_152564.5(VPS13B):c.10812del (p.Arg3604fs) rs2492241039
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10815G>T (p.Gln3605His) rs2492241098
NM_152564.5(VPS13B):c.10818T>C (p.Leu3606=) rs761079423
NM_152564.5(VPS13B):c.1081G>C (p.Asp361His) rs749019850
NM_152564.5(VPS13B):c.1081G>T (p.Asp361Tyr) rs749019850
NM_152564.5(VPS13B):c.10821G>A (p.Val3607=) rs1554581864
NM_152564.5(VPS13B):c.10825G>T (p.Ala3609Ser) rs769606496
NM_152564.5(VPS13B):c.10830G>A (p.Leu3610=) rs2492241240
NM_152564.5(VPS13B):c.10830G>C (p.Leu3610=)
NM_152564.5(VPS13B):c.10841A>G (p.Tyr3614Cys) rs1215467176
NM_152564.5(VPS13B):c.10842T>C (p.Tyr3614=) rs2130918674
NM_152564.5(VPS13B):c.10844C>A (p.Ala3615Asp) rs1055300973
NM_152564.5(VPS13B):c.10845C>A (p.Ala3615=) rs781485612
NM_152564.5(VPS13B):c.1084G>A (p.Gly362Ser)
NM_152564.5(VPS13B):c.10867+11A>C rs376656751
NM_152564.5(VPS13B):c.10867+15T>C rs924741671
NM_152564.5(VPS13B):c.10867+18G>A rs2492241942
NM_152564.5(VPS13B):c.10867+1G>T rs780902262
NM_152564.5(VPS13B):c.10867+20del rs769922921
NM_152564.5(VPS13B):c.10867+8C>T rs2130918754
NM_152564.5(VPS13B):c.10867+9A>C rs2492241786
NM_152564.5(VPS13B):c.10868-10T>C rs1049676890
NM_152564.5(VPS13B):c.10868-10T>G rs1049676890
NM_152564.5(VPS13B):c.10868-11G>A rs373157768
NM_152564.5(VPS13B):c.10868-11G>T rs373157768
NM_152564.5(VPS13B):c.10868-15T>C rs1816707885
NM_152564.5(VPS13B):c.10868-16C>G rs371370357
NM_152564.5(VPS13B):c.10868-17C>T
NM_152564.5(VPS13B):c.10868-20T>G rs2130933205
NM_152564.5(VPS13B):c.10868-2A>C rs745404712
NM_152564.5(VPS13B):c.10868-2A>G rs745404712
NM_152564.5(VPS13B):c.10868-5T>C rs2492277420
NM_152564.5(VPS13B):c.10868-6T>C rs2130933328
NM_152564.5(VPS13B):c.10868-8_10868-7del rs2492277337
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.10871G>C (p.Trp3624Ser) rs386834057
NM_152564.5(VPS13B):c.10874T>C (p.Val3625Ala) rs1337233009
NM_152564.5(VPS13B):c.1087G>C (p.Glu363Gln) rs116951775
NM_152564.5(VPS13B):c.10885_10887del (p.Leu3629del) rs1554583497
NM_152564.5(VPS13B):c.10892_10893del (p.Ile3631fs) rs2492277833
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>G (p.Ala3636=) rs1191575037
NM_152564.5(VPS13B):c.10917G>A (p.Val3639=) rs2130933540
NM_152564.5(VPS13B):c.10926C>T (p.Ile3642=) rs753373848
NM_152564.5(VPS13B):c.10929G>C (p.Gly3643=) rs2492278073
NM_152564.5(VPS13B):c.1092A>G (p.Glu364=) rs2488710576
NM_152564.5(VPS13B):c.10934G>C (p.Gly3645Ala) rs2492278127
NM_152564.5(VPS13B):c.10936G>A (p.Val3646Ile) rs1816712060
NM_152564.5(VPS13B):c.10936del (p.Val3646fs) rs2130933596
NM_152564.5(VPS13B):c.10937T>G (p.Val3646Gly) rs1588794218
NM_152564.5(VPS13B):c.10945TTC[1] (p.Phe3650del) rs2492278209
NM_152564.5(VPS13B):c.1094A>C (p.Asp365Ala) rs2132516334
NM_152564.5(VPS13B):c.10959G>C (p.Pro3653=) rs771022240
NM_152564.5(VPS13B):c.10961A>G (p.Tyr3654Cys) rs774678400
NM_152564.5(VPS13B):c.10961A>T (p.Tyr3654Phe) rs774678400
NM_152564.5(VPS13B):c.10964_10979del (p.Glu3655fs)
NM_152564.5(VPS13B):c.10967G>C (p.Gly3656Ala) rs1214631953
NM_152564.5(VPS13B):c.10968G>T (p.Gly3656=) rs2130933693
NM_152564.5(VPS13B):c.10974C>A (p.Thr3658=) rs375117356
NM_152564.5(VPS13B):c.10975C>T (p.Arg3659Trp) rs1420283003
NM_152564.5(VPS13B):c.10975del (p.Arg3659fs) rs1816713664
NM_152564.5(VPS13B):c.10976G>T (p.Arg3659Leu) rs370507425
NM_152564.5(VPS13B):c.10980C>A (p.Gly3660=) rs142939294
NM_152564.5(VPS13B):c.10982del (p.Pro3661fs) rs2130933734
NM_152564.5(VPS13B):c.10983T>C (p.Pro3661=) rs1436199960
NM_152564.5(VPS13B):c.1098T>C (p.Phe366=) rs1490561096
NM_152564.5(VPS13B):c.10993G>C (p.Val3665Leu) rs151089043
NM_152564.5(VPS13B):c.11001C>A (p.Gly3667=) rs367797468
NM_152564.5(VPS13B):c.11004C>T (p.Val3668=) rs1816715303
NM_152564.5(VPS13B):c.11007C>T (p.Ser3669=) rs2130933830
NM_152564.5(VPS13B):c.11008A>C (p.Arg3670=) rs2130933833
NM_152564.5(VPS13B):c.11016C>T (p.Thr3672=) rs2130933856
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs) rs2492278857
NM_152564.5(VPS13B):c.11016del (p.Thr3673fs) rs2492278870
NM_152564.5(VPS13B):c.11019A>T (p.Thr3673=) rs1588794390
NM_152564.5(VPS13B):c.1101T>C (p.Val367=) rs2488710625
NM_152564.5(VPS13B):c.11027T>C (p.Val3676Ala) rs2492278976
NM_152564.5(VPS13B):c.11028A>C (p.Val3676=) rs746157283
NM_152564.5(VPS13B):c.11031G>A (p.Lys3677=) rs2130933904
NM_152564.5(VPS13B):c.11034C>T (p.His3678=) rs1449788881
NM_152564.5(VPS13B):c.11035A>T (p.Ile3679Phe) rs2492279082
NM_152564.5(VPS13B):c.11044+11C>T rs750245978
NM_152564.5(VPS13B):c.11044+19T>C rs2492279532
NM_152564.5(VPS13B):c.11044+1G>A rs2492279185
NM_152564.5(VPS13B):c.11044+2T>C rs587777382
NM_152564.5(VPS13B):c.11044+5C>G rs764708878
NM_152564.5(VPS13B):c.11044+8G>A rs2130933989
NM_152564.5(VPS13B):c.11044+8G>T rs2130933989
NM_152564.5(VPS13B):c.11044+9T>G
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.11047del (p.Thr3683fs) rs2130941591
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11057C>A (p.Ser3686Tyr) rs1464523452
NM_152564.5(VPS13B):c.11059A>G (p.Ile3687Val) rs1045389239
NM_152564.5(VPS13B):c.11061C>T (p.Ile3687=) rs2130941649
NM_152564.5(VPS13B):c.11062A>T (p.Thr3688Ser) rs1588797596
NM_152564.5(VPS13B):c.11070C>G (p.Leu3690=) rs185477101
NM_152564.5(VPS13B):c.11076A>G (p.Thr3692=) rs2492299382
NM_152564.5(VPS13B):c.11082G>C (p.Leu3694=) rs2492299540
NM_152564.5(VPS13B):c.11083del (p.Ala3695fs) rs751118731
NM_152564.5(VPS13B):c.11094G>A (p.Met3698Ile) rs1259021225
NM_152564.5(VPS13B):c.11095G>A (p.Asp3699Asn) rs1476526587
NM_152564.5(VPS13B):c.11097C>T (p.Asp3699=) rs2492299621
NM_152564.5(VPS13B):c.11099G>A (p.Arg3700Gln) rs750753561
NM_152564.5(VPS13B):c.11099G>T (p.Arg3700Leu) rs750753561
NM_152564.5(VPS13B):c.11103C>A (p.Leu3701=) rs1174378457
NM_152564.5(VPS13B):c.11103C>G (p.Leu3701=) rs1174378457
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs) rs1057517202
NM_152564.5(VPS13B):c.1110T>C (p.Asp370=) rs2488710664
NM_152564.5(VPS13B):c.11113G>A (p.Glu3705Lys) rs780240040
NM_152564.5(VPS13B):c.11124C>G (p.Tyr3708Ter) rs2130941863
NM_152564.5(VPS13B):c.11124C>T (p.Tyr3708=) rs2130941863
NM_152564.5(VPS13B):c.11134G>A (p.Glu3712Lys) rs1346807622
NM_152564.5(VPS13B):c.11134GAG[1] (p.Glu3713del) rs781133717
NM_152564.5(VPS13B):c.11139G>A (p.Glu3713=) rs1816854749
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11148G>A (p.Arg3716=) rs2130941995
NM_152564.5(VPS13B):c.11158G>T (p.Glu3720Ter) rs150393340
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs) rs1057517376
NM_152564.5(VPS13B):c.11167G>A (p.Gly3723Ser) rs1816856108
NM_152564.5(VPS13B):c.11167G>C (p.Gly3723Arg) rs1816856108
NM_152564.5(VPS13B):c.11169C>G (p.Gly3723=) rs1175793742
NM_152564.5(VPS13B):c.11169C>T (p.Gly3723=) rs1175793742
NM_152564.5(VPS13B):c.11171_11174dup (p.Leu3726fs) rs1057518228
NM_152564.5(VPS13B):c.11175G>A (p.Gly3725=) rs775017930
NM_152564.5(VPS13B):c.11179C>T (p.Arg3727Ter) rs1432822705
NM_152564.5(VPS13B):c.11187C>G (p.Gly3729=) rs1563514691
NM_152564.5(VPS13B):c.11191T>C (p.Ser3731Pro) rs1816857688
NM_152564.5(VPS13B):c.11200G>C (p.Gly3734Arg) rs2492300554
NM_152564.5(VPS13B):c.11206A>T (p.Ser3736Cys) rs2130942219
NM_152564.5(VPS13B):c.11211G>A (p.Leu3737=) rs1195872726
NM_152564.5(VPS13B):c.11215+10T>G rs1213857516
NM_152564.5(VPS13B):c.11215+14G>C rs777843630
NM_152564.5(VPS13B):c.11215+19T>C rs1448182571
NM_152564.5(VPS13B):c.11215+7G>A rs1588797925
NM_152564.5(VPS13B):c.11215+8G>C rs1285906381
NM_152564.5(VPS13B):c.11216-10G>A rs2492346224
NM_152564.5(VPS13B):c.11216-14T>A rs2492346189
NM_152564.5(VPS13B):c.11216-18G>A
NM_152564.5(VPS13B):c.11216-19A>G rs2492346152
NM_152564.5(VPS13B):c.11216-1G>A rs1057517441
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.11220A>G (p.Ala3740=) rs757214570
NM_152564.5(VPS13B):c.11221A>G (p.Ile3741Val) rs1292129523
NM_152564.5(VPS13B):c.11223T>C (p.Ile3741=) rs267601674
NM_152564.5(VPS13B):c.1122C>A (p.Thr374=) rs2132516445
NM_152564.5(VPS13B):c.1122del (p.Met375fs) rs2488710723
NM_152564.5(VPS13B):c.11230A>G (p.Ile3744Val) rs2492346438
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11242C>A (p.Pro3748Thr) rs2130962900
NM_152564.5(VPS13B):c.11243C>T (p.Pro3748Leu) rs1210353554
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.11252A>T (p.Asn3751Ile) rs2130962939
NM_152564.5(VPS13B):c.11252del (p.Asn3751fs) rs2130962934
NM_152564.5(VPS13B):c.11258A>G (p.Gln3753Arg) rs2130962947
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11264C>T (p.Thr3755Ile) rs2492346657
NM_152564.5(VPS13B):c.11265A>G (p.Thr3755=) rs1476200827
NM_152564.5(VPS13B):c.11275C>G (p.Gln3759Glu) rs797046093
NM_152564.5(VPS13B):c.11275C>T (p.Gln3759Ter) rs797046093
NM_152564.5(VPS13B):c.11283A>C (p.Ser3761=) rs1817209374
NM_152564.5(VPS13B):c.11285C>T (p.Ala3762Val) rs767840130
NM_152564.5(VPS13B):c.11298dup (p.Lys3767fs) rs2492346869
NM_152564.5(VPS13B):c.112A>T (p.Ser38Cys) rs2132125588
NM_152564.5(VPS13B):c.11305G>A (p.Val3769Ile) rs1375551293
NM_152564.5(VPS13B):c.11307C>T (p.Val3769=) rs2130963089
NM_152564.5(VPS13B):c.11313G>A (p.Ser3771=) rs753931096
NM_152564.5(VPS13B):c.11313G>T (p.Ser3771=) rs753931096
NM_152564.5(VPS13B):c.11314G>A (p.Gly3772Ser) rs2492347024
NM_152564.5(VPS13B):c.11315G>C (p.Gly3772Ala) rs2492347034
NM_152564.5(VPS13B):c.11315del (p.Gly3772fs) rs2492347008
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=) rs2492347088
NM_152564.5(VPS13B):c.11322G>A (p.Gly3774=) rs2130963124
NM_152564.5(VPS13B):c.11327G>A (p.Gly3776Glu) rs2492347152
NM_152564.5(VPS13B):c.1132C>G (p.Gln378Glu) rs1300906976
NM_152564.5(VPS13B):c.11331C>T (p.Ile3777=) rs899873493
NM_152564.5(VPS13B):c.11334G>C (p.Met3778Ile) rs779652081
NM_152564.5(VPS13B):c.11336G>C (p.Gly3779Ala) rs2492347227
NM_152564.5(VPS13B):c.11337G>C (p.Gly3779=) rs2130963173
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11339T>C (p.Val3780Ala) rs1817212364
NM_152564.5(VPS13B):c.11352dup (p.Ile3785fs) rs2492347312
NM_152564.5(VPS13B):c.11355C>A (p.Ile3785=) rs865965849
NM_152564.5(VPS13B):c.11356G>A (p.Gly3786Arg) rs768255145
NM_152564.5(VPS13B):c.11360G>A (p.Gly3787Glu) rs990005107
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs) rs1554586972
NM_152564.5(VPS13B):c.11361A>C (p.Gly3787=)
NM_152564.5(VPS13B):c.11364T>G (p.Ala3788=) rs1817213836
NM_152564.5(VPS13B):c.11371C>T (p.Leu3791=) rs1817214262
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs) rs1554586994
NM_152564.5(VPS13B):c.11385T>C (p.Thr3795=) rs2492347679
NM_152564.5(VPS13B):c.11390A>G (p.Tyr3797Cys)
NM_152564.5(VPS13B):c.11392+17C>A rs775949318
NM_152564.5(VPS13B):c.11392+19C>T rs2130963400
NM_152564.5(VPS13B):c.11392+1G>T rs1554587021
NM_152564.5(VPS13B):c.11392+20A>G rs2492347984
NM_152564.5(VPS13B):c.11392+5G>C rs2492347740
NM_152564.5(VPS13B):c.11392+7C>A rs759898701
NM_152564.5(VPS13B):c.11392+8G>T rs147921058
NM_152564.5(VPS13B):c.11392G>A (p.Gly3798Ser) rs2492347716
NM_152564.5(VPS13B):c.11393-12C>G rs1817364799
NM_152564.5(VPS13B):c.11393-16A>C rs1326995350
NM_152564.5(VPS13B):c.11393-16_11393-13del rs1563519593
NM_152564.5(VPS13B):c.11393-1G>A rs747363890
NM_152564.5(VPS13B):c.11393-1G>C rs747363890
NM_152564.5(VPS13B):c.11393-4A>G
NM_152564.5(VPS13B):c.11393-5C>T
NM_152564.5(VPS13B):c.11393-6C>A rs2492367988
NM_152564.5(VPS13B):c.11394T>C (p.Gly3798=) rs2130972325
NM_152564.5(VPS13B):c.11401C>T (p.His3801Tyr) rs1817365541
NM_152564.5(VPS13B):c.11409T>A (p.Ala3803=) rs2130972371
NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs) rs1588810676
NM_152564.5(VPS13B):c.11413_11414del (p.Leu3805fs) rs2492368169
NM_152564.5(VPS13B):c.11415T>G (p.Leu3805=) rs2130972392
NM_152564.5(VPS13B):c.11416dup (p.Ser3806fs) rs2492368181
NM_152564.5(VPS13B):c.11418T>C (p.Ser3806=) rs2130972408
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter) rs2130972411
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs) rs1588810695
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs) rs386834062
NM_152564.5(VPS13B):c.11431C>T (p.Gln3811Ter) rs1269999933
NM_152564.5(VPS13B):c.11433G>A (p.Gln3811=) rs1362645493
NM_152564.5(VPS13B):c.11436C>A (p.Arg3812=) rs765514847
NM_152564.5(VPS13B):c.11437C>T (p.His3813Tyr) rs2492368355
NM_152564.5(VPS13B):c.11438_11450del (p.His3813fs) rs2130972502
NM_152564.5(VPS13B):c.1143G>C (p.Gln381His) rs2132516543
NM_152564.5(VPS13B):c.11453_11454insC (p.His3819fs) rs2492368462
NM_152564.5(VPS13B):c.11454A>G (p.Leu3818=) rs2130972563
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs) rs1057516284
NM_152564.5(VPS13B):c.11472A>G (p.Pro3824=) rs2130972634
NM_152564.5(VPS13B):c.11473_11476del (p.Asn3825fs) rs2130972632
NM_152564.5(VPS13B):c.11475C>T (p.Asn3825=)
NM_152564.5(VPS13B):c.11481T>G (p.His3827Gln) rs2130972661
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs) rs386834063
NM_152564.5(VPS13B):c.11484C>G (p.Val3828=) rs370697316
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.11491_11493dup (p.Val3831dup) rs1554588147
NM_152564.5(VPS13B):c.11492T>C (p.Val3831Ala) rs1563519728
NM_152564.5(VPS13B):c.11493C>G (p.Val3831=) rs1406602437
NM_152564.5(VPS13B):c.11495+10T>A rs1250469602
NM_152564.5(VPS13B):c.11495+10_11495+11delinsAC rs2130972826
NM_152564.5(VPS13B):c.11495+11T>G
NM_152564.5(VPS13B):c.11495+12G>C rs2492369267
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG rs2492371596
NM_152564.5(VPS13B):c.11495+17A>G rs2130972872
NM_152564.5(VPS13B):c.11495+1G>A rs2492369001
NM_152564.5(VPS13B):c.11495+3_11495+34dup rs2130972756
NM_152564.5(VPS13B):c.11495+5_11495+7dup
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 rs774422964
NM_152564.5(VPS13B):c.11496-14C>T rs2130975155
NM_152564.5(VPS13B):c.11496-15T>A rs1175278365
NM_152564.5(VPS13B):c.11496-17T>G rs2492375776
NM_152564.5(VPS13B):c.11496-19C>A
NM_152564.5(VPS13B):c.11496-19C>T rs2492375757
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
NM_152564.5(VPS13B):c.11496-3C>A rs759415088
NM_152564.5(VPS13B):c.11496-6A>G rs2130975190
NM_152564.5(VPS13B):c.11496-7dup rs1451672589
NM_152564.5(VPS13B):c.11496G>A (p.Trp3832Ter) rs2492375934
NM_152564.5(VPS13B):c.11506_11507del (p.Gln3836fs) rs2492375984
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter) rs1554625838
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152564.5(VPS13B):c.11514G>A (p.Leu3838=)
NM_152564.5(VPS13B):c.11514G>T (p.Leu3838=) rs2130975250
NM_152564.5(VPS13B):c.11517C>T (p.Gly3839=) rs1001918842
NM_152564.5(VPS13B):c.11521C>A (p.Pro3841Thr) rs1817411525
NM_152564.5(VPS13B):c.11522C>T (p.Pro3841Leu) rs752395430
NM_152564.5(VPS13B):c.11523A>C (p.Pro3841=) rs755978513
NM_152564.5(VPS13B):c.11523del (p.Glu3842fs) rs386834065
NM_152564.5(VPS13B):c.11524_11525del (p.Glu3842fs) rs2492376150
NM_152564.5(VPS13B):c.11526A>G (p.Glu3842=) rs753590864
NM_152564.5(VPS13B):c.11527G>A (p.Val3843Ile) rs943648620
NM_152564.5(VPS13B):c.11529C>T (p.Val3843=) rs2130975340
NM_152564.5(VPS13B):c.11533A>G (p.Met3845Val)
NM_152564.5(VPS13B):c.11538C>A (p.Ala3846=)
NM_152564.5(VPS13B):c.11538C>T (p.Ala3846=) rs778507213
NM_152564.5(VPS13B):c.1153G>T (p.Asp385Tyr)
NM_152564.5(VPS13B):c.11542G>A (p.Asp3848Asn) rs558917637
NM_152564.5(VPS13B):c.11548G>T (p.Val3850Phe) rs1817413381
NM_152564.5(VPS13B):c.11553G>A (p.Leu3851=) rs2492376329
NM_152564.5(VPS13B):c.11556G>A (p.Val3852=) rs2130975423
NM_152564.5(VPS13B):c.11556G>T (p.Val3852=) rs2130975423
NM_152564.5(VPS13B):c.11565A>C (p.Ser3855=)
NM_152564.5(VPS13B):c.11571G>A (p.Gln3857=) rs2130975458
NM_152564.5(VPS13B):c.11572G>A (p.Glu3858Lys) rs910829293
NM_152564.5(VPS13B):c.11572G>C (p.Glu3858Gln) rs910829293
NM_152564.5(VPS13B):c.11572_11574del (p.Glu3858del) rs1442032566
NM_152564.5(VPS13B):c.11574G>A (p.Glu3858=) rs368385004
NM_152564.5(VPS13B):c.11575del (p.His3859fs) rs1057516651
NM_152564.5(VPS13B):c.11580A>G (p.Glu3860=) rs2492376809
NM_152564.5(VPS13B):c.11583G>A (p.Gly3861=) rs1458677528
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs) rs1057517438
NM_152564.5(VPS13B):c.11586C>T (p.Cys3862=) rs2130975528
NM_152564.5(VPS13B):c.11587T>C (p.Leu3863=) rs2492376879
NM_152564.5(VPS13B):c.11589G>A (p.Leu3863=) rs1323646177
NM_152564.5(VPS13B):c.11599_11601dup (p.Ser3867_Glu3868insSer) rs2492376935
NM_152564.5(VPS13B):c.1159A>G (p.Ile387Val) rs1170794758
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter) rs1057517385
NM_152564.5(VPS13B):c.11600C>T (p.Ser3867Leu) rs1057517385
NM_152564.5(VPS13B):c.11601A>C (p.Ser3867=) rs2130975550
NM_152564.5(VPS13B):c.11601A>G (p.Ser3867=) rs2130975550
NM_152564.5(VPS13B):c.11607G>A (p.Val3869=) rs1817415955
NM_152564.5(VPS13B):c.11608C>G (p.Leu3870Val) rs2130975573
NM_152564.5(VPS13B):c.11610C>G (p.Leu3870=)
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met) rs574447837
NM_152564.5(VPS13B):c.11617G>C (p.Val3873Leu) rs2130975617
NM_152564.5(VPS13B):c.11619G>A (p.Val3873=) rs113454700
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs) rs1554588477
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11625_11628del (p.Ser3876fs) rs2130975687
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs) rs1554588489
NM_152564.5(VPS13B):c.11631G>A (p.Glu3877=) rs1183118795
NM_152564.5(VPS13B):c.11634C>T (p.Asp3878=) rs1563520208
NM_152564.5(VPS13B):c.11637A>G (p.Thr3879=) rs895169322
NM_152564.5(VPS13B):c.11638C>G (p.Gln3880Glu) rs147315245
NM_152564.5(VPS13B):c.11638C>T (p.Gln3880Ter) rs147315245
NM_152564.5(VPS13B):c.11641C>T (p.Gln3881Ter) rs2492377397
NM_152564.5(VPS13B):c.11652C>G (p.Phe3884Leu) rs2130975772
NM_152564.5(VPS13B):c.11655C>G (p.Pro3885=) rs368092348
NM_152564.5(VPS13B):c.11655del (p.Val3886fs) rs1212294259
NM_152564.5(VPS13B):c.11658C>T (p.Val3886=) rs2130975807
NM_152564.5(VPS13B):c.11659A>G (p.Thr3887Ala) rs2492377551
NM_152564.5(VPS13B):c.11660C>T (p.Thr3887Ile) rs1817419149
NM_152564.5(VPS13B):c.11666T>C (p.Ile3889Thr) rs778142738
NM_152564.5(VPS13B):c.1166C>A (p.Ser389Tyr) rs2132516597
NM_152564.5(VPS13B):c.11673T>C (p.Cys3891=) rs2130975878
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11674G>A (p.Ala3892Thr) rs2130975882
NM_152564.5(VPS13B):c.11679G>C (p.Gln3893His) rs779149986
NM_152564.5(VPS13B):c.1167T>C (p.Ser389=) rs2488710930
NM_152564.5(VPS13B):c.11686A>G (p.Lys3896Glu) rs1325172197
NM_152564.5(VPS13B):c.11691G>A (p.Gln3897=) rs371985144
NM_152564.5(VPS13B):c.11692AAC[1] (p.Asn3899del) rs1462286408
NM_152564.5(VPS13B):c.11702T>C (p.Leu3901Pro) rs2492378198
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys) rs386834067
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11707G>A (p.Val3903Met) rs144797111
NM_152564.5(VPS13B):c.11711A>G (p.Gln3904Arg) rs1484708441
NM_152564.5(VPS13B):c.11721G>A (p.Gln3907=) rs2130976100
NM_152564.5(VPS13B):c.11723C>G (p.Pro3908Arg) rs750156428
NM_152564.5(VPS13B):c.11725dup (p.Arg3909fs) rs2130976122
NM_152564.5(VPS13B):c.11727_11728del (p.Arg3909fs) rs2130976129
NM_152564.5(VPS13B):c.11728G>A (p.Val3910Met)
NM_152564.5(VPS13B):c.11730G>T (p.Val3910=) rs2492378526
NM_152564.5(VPS13B):c.1173A>T (p.Gly391=) rs1160712344
NM_152564.5(VPS13B):c.11742G>A (p.Val3914=) rs1032955226
NM_152564.5(VPS13B):c.11743G>A (p.Glu3915Lys) rs765850481
NM_152564.5(VPS13B):c.11745+10A>G rs2492378714
NM_152564.5(VPS13B):c.11745+13A>C
NM_152564.5(VPS13B):c.11745+15del rs1450725730
NM_152564.5(VPS13B):c.11745+17A>T rs1339085013
NM_152564.5(VPS13B):c.11745+18G>A rs1301230086
NM_152564.5(VPS13B):c.11745+19G>A rs2492378867
NM_152564.5(VPS13B):c.11745+8T>C rs2130976234
NM_152564.5(VPS13B):c.11745G>A (p.Glu3915=) rs2492378636
NM_152564.5(VPS13B):c.11746-10_11746-3dup rs756943075
NM_152564.5(VPS13B):c.11746-10dup rs1347157608
NM_152564.5(VPS13B):c.11746-15_11746-11dup rs2492410777
NM_152564.5(VPS13B):c.11746-15_11746-12dup rs1817651062
NM_152564.5(VPS13B):c.11746-7A>C rs1817651650
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs) rs1554590314
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11753G>A (p.Gly3918Glu) rs2130990090
NM_152564.5(VPS13B):c.11755G>A (p.Val3919Ile) rs2130990099
NM_152564.5(VPS13B):c.11758C>A (p.Arg3920=)
NM_152564.5(VPS13B):c.11759G>C (p.Arg3920Pro) rs147907236
NM_152564.5(VPS13B):c.11768_11771dup (p.Glu3925fs)
NM_152564.5(VPS13B):c.11769G>C (p.Leu3923=) rs750806587
NM_152564.5(VPS13B):c.11774_11775del (p.Glu3925fs) rs755827237
NM_152564.5(VPS13B):c.11775G>A (p.Glu3925=) rs2492411178
NM_152564.5(VPS13B):c.11776C>T (p.Gln3926Ter) rs2492411190
NM_152564.5(VPS13B):c.11781G>A (p.Gln3927=)
NM_152564.5(VPS13B):c.11781G>C (p.Gln3927His) rs1817654141
NM_152564.5(VPS13B):c.11783ACA[1] (p.Asn3929del) rs1554590369
NM_152564.5(VPS13B):c.11786del (p.Asn3929fs)
NM_152564.5(VPS13B):c.11787C>G (p.Asn3929Lys) rs147710096
NM_152564.5(VPS13B):c.11793G>A (p.Leu3931=) rs2130990233
NM_152564.5(VPS13B):c.11794G>A (p.Val3932Met) rs2130990241
NM_152564.5(VPS13B):c.117G>A (p.Lys39=) rs2488084354
NM_152564.5(VPS13B):c.11804_11808dup (p.Lys3937fs) rs1263684271
NM_152564.5(VPS13B):c.11805C>T (p.Ile3935=) rs2492411414
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
NM_152564.5(VPS13B):c.11809_11812dup (p.Thr3938fs) rs2492411438
NM_152564.5(VPS13B):c.11810del (p.Lys3937fs) rs1371736348
NM_152564.5(VPS13B):c.11813C>A (p.Thr3938Lys) rs1475274965
NM_152564.5(VPS13B):c.11814_11816del (p.Ser3939del) rs1236948038
NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup) rs1236948038
NM_152564.5(VPS13B):c.11815T>A (p.Ser3939Thr) rs781269212
NM_152564.5(VPS13B):c.11815_11822del (p.Ser3939fs) rs2492411482
NM_152564.5(VPS13B):c.11823C>T (p.His3941=) rs1817655907
NM_152564.5(VPS13B):c.11829C>T (p.Ala3943=) rs2492411574
NM_152564.5(VPS13B):c.11831C>A (p.Pro3944His) rs1010334738
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.11832del (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11834G>A (p.Ser3945Asn) rs1209045692
NM_152564.5(VPS13B):c.11837del (p.Cys3946fs)
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.11838TTC[1] (p.Ser3948del) rs1554590420
NM_152564.5(VPS13B):c.11839_11842del (p.Ser3947fs)
NM_152564.5(VPS13B):c.11839_11842dup (p.Ser3948fs) rs1817657601
NM_152564.5(VPS13B):c.11841T>G (p.Ser3947=) rs1257015556
NM_152564.5(VPS13B):c.11845A>G (p.Met3949Val) rs1227148786
NM_152564.5(VPS13B):c.11850A>C (p.Gln3950His) rs1817658745
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.11855C>G (p.Pro3952Arg) rs2492411800
NM_152564.5(VPS13B):c.11857T>C (p.Cys3953Arg)
NM_152564.5(VPS13B):c.11857T>G (p.Cys3953Gly) rs1161942735
NM_152564.5(VPS13B):c.11858G>A (p.Cys3953Tyr) rs2492411835
NM_152564.5(VPS13B):c.11859C>T (p.Cys3953=) rs996333047
NM_152564.5(VPS13B):c.11860C>T (p.Pro3954Ser) rs2130990501
NM_152564.5(VPS13B):c.11862T>A (p.Pro3954=) rs767005515
NM_152564.5(VPS13B):c.11862T>G (p.Pro3954=) rs767005515
NM_152564.5(VPS13B):c.11863G>A (p.Val3955Met) rs2492411883
NM_152564.5(VPS13B):c.11876A>T (p.Glu3959Val) rs2130990524
NM_152564.5(VPS13B):c.1187del (p.Lys396fs) rs1554625872
NM_152564.5(VPS13B):c.11880T>C (p.Pro3960=) rs2492411966
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
NM_152564.5(VPS13B):c.11881C>G (p.Pro3961Ala) rs762256695
NM_152564.5(VPS13B):c.11881C>T (p.Pro3961Ser) rs762256695
NM_152564.5(VPS13B):c.11882C>T (p.Pro3961Leu) rs765761643
NM_152564.5(VPS13B):c.11885C>A (p.Pro3962His) rs531619892
NM_152564.5(VPS13B):c.11886C>G (p.Pro3962=) rs755231498
NM_152564.5(VPS13B):c.11886dup (p.Ser3963fs) rs1817660485
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer) rs1554590486
NM_152564.5(VPS13B):c.11894_11895dup (p.Lys3966fs) rs2492412154
NM_152564.5(VPS13B):c.11895T>A (p.Val3965=) rs1014579158
NM_152564.5(VPS13B):c.11895T>C (p.Val3965=) rs1014579158
NM_152564.5(VPS13B):c.11898_11901dup (p.Tyr3968fs) rs753295666
NM_152564.5(VPS13B):c.11899dup (p.Thr3967fs) rs1554590501
NM_152564.5(VPS13B):c.11901_11904dup (p.His3969fs) rs1554590506
NM_152564.5(VPS13B):c.11904C>A (p.Tyr3968Ter)
NM_152564.5(VPS13B):c.11906_11911dup (p.His3969_Tyr3970dup) rs1554590515
NM_152564.5(VPS13B):c.11907_11908insG (p.Tyr3970fs) rs1554590537
NM_152564.5(VPS13B):c.11911C>T (p.Leu3971=) rs2130990707
NM_152564.5(VPS13B):c.11912T>C (p.Leu3971Pro) rs2130990713
NM_152564.5(VPS13B):c.11917_11919dup (p.Asp3973dup) rs1554590552
NM_152564.5(VPS13B):c.11929G>A (p.Ala3977Thr) rs2130990784
NM_152564.5(VPS13B):c.11929G>T (p.Ala3977Ser) rs2130990784
NM_152564.5(VPS13B):c.11932C>T (p.Gln3978Ter) rs2130990800
NM_152564.5(VPS13B):c.11934G>C (p.Gln3978His) rs1012733827
NM_152564.5(VPS13B):c.11938T>G (p.Phe3980Val) rs2492412561
NM_152564.5(VPS13B):c.11941C>T (p.Leu3981Phe) rs1334746607
NM_152564.5(VPS13B):c.11944A>C (p.Ser3982Arg) rs1817664208
NM_152564.5(VPS13B):c.11945G>A (p.Ser3982Asn) rs1370500777
NM_152564.5(VPS13B):c.1194G>A (p.Thr398=) rs1847927710
NM_152564.5(VPS13B):c.11955C>T (p.Thr3985=) rs2492412688
NM_152564.5(VPS13B):c.11957T>A (p.Met3986Lys) rs771731368
NM_152564.5(VPS13B):c.11957T>C (p.Met3986Thr)
NM_152564.5(VPS13B):c.11958G>A (p.Met3986Ile) rs774937754
NM_152564.5(VPS13B):c.11959G>C (p.Val3987Leu) rs760214378
NM_152564.5(VPS13B):c.11964_11984dup (p.Asn3989_Gly3995dup) rs1554590631
NM_152564.5(VPS13B):c.11965_11966dup (p.Asn3989fs) rs1554590620
NM_152564.5(VPS13B):c.11967_11968dup (p.Lys3990fs) rs1554590636
NM_152564.5(VPS13B):c.11967_11969dup (p.Asn3989_Lys3990insAsn) rs1817665417
NM_152564.5(VPS13B):c.11967_11970del (p.Asn3989fs) rs769983613
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.11970dup (p.Ala3991fs) rs763368183
NM_152564.5(VPS13B):c.11976G>A (p.Leu3992=) rs2130990950
NM_152564.5(VPS13B):c.11982A>G (p.Lys3994=) rs2492412879
NM_152564.5(VPS13B):c.11983G>A (p.Gly3995Arg) rs369435007
NM_152564.5(VPS13B):c.11985G>T (p.Gly3995=) rs2492412917
NM_152564.5(VPS13B):c.11991T>C (p.Pro3997=) rs2492412951
NM_152564.5(VPS13B):c.11993_*2dup (p.Ter3998=) rs764705493
NM_152564.5(VPS13B):c.11994A>C (p.Ter3998Cys) rs1342319202
NM_152564.5(VPS13B):c.1203C>T (p.Phe401=) rs2488711112
NM_152564.5(VPS13B):c.1206+12C>T rs2488711203
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>C
NM_152564.5(VPS13B):c.1206+20G>T rs2132516774
NM_152564.5(VPS13B):c.1206+40T>C rs1554625938
NM_152564.5(VPS13B):c.1206+7C>G rs2488711155
NM_152564.5(VPS13B):c.1207-10T>A rs1293563176
NM_152564.5(VPS13B):c.1207-15T>G rs1201572301
NM_152564.5(VPS13B):c.1207-19A>G rs2488757790
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=) rs1217032484
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.121G>C (p.Glu41Gln) rs1841451348
NM_152564.5(VPS13B):c.1221A>T (p.Gln407His) rs1269344604
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_152564.5(VPS13B):c.1227G>A (p.Glu409=) rs2488757960
NM_152564.5(VPS13B):c.1234T>A (p.Tyr412Asn) rs1809977101
NM_152564.5(VPS13B):c.1236T>C (p.Tyr412=) rs1355692148
NM_152564.5(VPS13B):c.123G>A (p.Glu41=) rs1841451436
NM_152564.5(VPS13B):c.1245A>G (p.Pro415=) rs2132554032
NM_152564.5(VPS13B):c.1246C>T (p.Gln416Ter) rs1809977682
NM_152564.5(VPS13B):c.1248G>A (p.Gln416=) rs143024324
NM_152564.5(VPS13B):c.1260T>C (p.Ser420=) rs1809978399
NM_152564.5(VPS13B):c.1260T>G (p.Ser420=) rs1809978399
NM_152564.5(VPS13B):c.1261A>T (p.Lys421Ter) rs942483537
NM_152564.5(VPS13B):c.1261_1272del (p.Lys421_Leu424del) rs1554633843
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter) rs2488758091
NM_152564.5(VPS13B):c.1266A>C (p.Glu422Asp)
NM_152564.5(VPS13B):c.1269A>G (p.Val423=) rs2488758122
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs) rs386834072
NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter) rs2488758171
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter) rs2488758180
NM_152564.5(VPS13B):c.127A>C (p.Lys43Gln) rs2132125648
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.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.1294A>G (p.Thr432Ala) rs1809982356
NM_152564.5(VPS13B):c.1297del (p.Val433fs)
NM_152564.5(VPS13B):c.1302+10C>T rs2488758304
NM_152564.5(VPS13B):c.1302+17G>A rs2488758341
NM_152564.5(VPS13B):c.1302+19A>T rs2488758360
NM_152564.5(VPS13B):c.1302+6C>G rs1186459776
NM_152564.5(VPS13B):c.1302+7T>G
NM_152564.5(VPS13B):c.1303-19G>A rs781273813
NM_152564.5(VPS13B):c.1303-19G>T rs781273813
NM_152564.5(VPS13B):c.1303-1G>C rs1554634091
NM_152564.5(VPS13B):c.1303-20T>C rs2488759849
NM_152564.5(VPS13B):c.1303-3T>C rs1464515241
NM_152564.5(VPS13B):c.1303-4A>T rs772842729
NM_152564.5(VPS13B):c.1303-9G>C rs370251445
NM_152564.5(VPS13B):c.1305C>A (p.Ala435=) rs2488760022
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.1309A>G (p.Met437Val) rs2488760045
NM_152564.5(VPS13B):c.1310T>C (p.Met437Thr) rs1810002408
NM_152564.5(VPS13B):c.1315G>T (p.Gly439Ter)
NM_152564.5(VPS13B):c.1318G>A (p.Glu440Lys) rs1320106244
NM_152564.5(VPS13B):c.1318G>T (p.Glu440Ter) rs1320106244
NM_152564.5(VPS13B):c.1321C>T (p.Pro441Ser) rs1563560482
NM_152564.5(VPS13B):c.1323T>C (p.Pro441=) rs2132555095
NM_152564.5(VPS13B):c.1324T>G (p.Phe442Val) rs2488760121
NM_152564.5(VPS13B):c.1334_1335delinsTT (p.Cys445Phe) rs1563560499
NM_152564.5(VPS13B):c.133G>A (p.Asp45Asn) rs761491720
NM_152564.5(VPS13B):c.133G>T (p.Asp45Tyr) rs761491720
NM_152564.5(VPS13B):c.1347T>C (p.Phe449=) rs2132555166
NM_152564.5(VPS13B):c.1366del (p.Cys456fs) rs2132555225
NM_152564.5(VPS13B):c.1368C>T (p.Cys456=) rs2132555233
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=) rs1810005490
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu) rs1810005848
NM_152564.5(VPS13B):c.1378del (p.Ile460fs) rs1810006084
NM_152564.5(VPS13B):c.1386T>C (p.Gly462=) rs2488760445
NM_152564.5(VPS13B):c.138G>A (p.Val46=) rs1841451847
NM_152564.5(VPS13B):c.1396T>C (p.Phe466Leu) rs2132555298
NM_152564.5(VPS13B):c.139C>T (p.Leu47=) rs2132125682
NM_152564.5(VPS13B):c.1406A>G (p.Asn469Ser) rs1810007051
NM_152564.5(VPS13B):c.1406del (p.Asn469fs) rs2488760578
NM_152564.5(VPS13B):c.1418del (p.Ser473fs) rs1563560592
NM_152564.5(VPS13B):c.141G>C (p.Leu47=) rs1841451940
NM_152564.5(VPS13B):c.1424C>T (p.Thr475Ile) rs765774825
NM_152564.5(VPS13B):c.1425+17C>T rs2488760728
NM_152564.5(VPS13B):c.1425+18A>G rs889502184
NM_152564.5(VPS13B):c.1425+20C>T
NM_152564.5(VPS13B):c.1425+7C>G rs2488760668
NM_152564.5(VPS13B):c.1425+9G>T rs551460373
NM_152564.5(VPS13B):c.1426-12A>T rs371878090
NM_152564.5(VPS13B):c.1426-19A>G
NM_152564.5(VPS13B):c.1426-8del rs2132556521
NM_152564.5(VPS13B):c.142del (p.Glu48fs)
NM_152564.5(VPS13B):c.1431C>G (p.Ala477=) rs2488762474
NM_152564.5(VPS13B):c.1436dup (p.Phe480fs) rs2488762498
NM_152564.5(VPS13B):c.1440C>A (p.Phe480Leu) rs141324814
NM_152564.5(VPS13B):c.1442T>C (p.Ile481Thr) rs1425409453
NM_152564.5(VPS13B):c.1449T>C (p.Gly483=) rs2132556560
NM_152564.5(VPS13B):c.1452C>T (p.Asp484=) rs2132556577
NM_152564.5(VPS13B):c.1456T>C (p.Leu486=) rs879308072
NM_152564.5(VPS13B):c.145C>T (p.Gln49Ter) rs2132125704
NM_152564.5(VPS13B):c.1469G>A (p.Gly490Asp) rs761218548
NM_152564.5(VPS13B):c.1469G>C (p.Gly490Ala) rs761218548
NM_152564.5(VPS13B):c.147+13_147+22del rs2488084648
NM_152564.5(VPS13B):c.147+14C>A
NM_152564.5(VPS13B):c.147+18C>A rs2488084731
NM_152564.5(VPS13B):c.147+18_147+19insT
NM_152564.5(VPS13B):c.147+19A>C rs1354978326
NM_152564.5(VPS13B):c.147+1G>C
NM_152564.5(VPS13B):c.147+8_147+15del rs1587912564
NM_152564.5(VPS13B):c.1470T>A (p.Gly490=) rs2132556626
NM_152564.5(VPS13B):c.1479C>A (p.Tyr493Ter) rs751986362
NM_152564.5(VPS13B):c.1479C>T (p.Tyr493=) rs751986362
NM_152564.5(VPS13B):c.148-10G>T rs779842255
NM_152564.5(VPS13B):c.148-11del rs2488267011
NM_152564.5(VPS13B):c.148-17A>G rs2132221851
NM_152564.5(VPS13B):c.148-2A>G rs768406797
NM_152564.5(VPS13B):c.148-5T>C rs1842836512
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1483dup (p.Thr495fs) rs2488762701
NM_152564.5(VPS13B):c.1484C>A (p.Thr495Lys) rs1810032995
NM_152564.5(VPS13B):c.1490C>A (p.Ser497Ter)
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.1495_1498del (p.Phe499fs) rs1057517319
NM_152564.5(VPS13B):c.150A>G (p.Glu50=) rs2132221924
NM_152564.5(VPS13B):c.1516A>T (p.Asn506Tyr) rs777538355
NM_152564.5(VPS13B):c.1527T>C (p.Thr509=) rs778708757
NM_152564.5(VPS13B):c.1527del (p.Arg510fs) rs2132556766
NM_152564.5(VPS13B):c.1528C>A (p.Arg510Ser) rs139141291
NM_152564.5(VPS13B):c.1528C>G (p.Arg510Gly) rs139141291
NM_152564.5(VPS13B):c.1533A>G (p.Ala511=) rs2132556812
NM_152564.5(VPS13B):c.154A>T (p.Lys52Ter) rs776456971
NM_152564.5(VPS13B):c.1554T>G (p.Thr518=) rs139849251
NM_152564.5(VPS13B):c.1563+10T>A rs777964709
NM_152564.5(VPS13B):c.1563+11A>G
NM_152564.5(VPS13B):c.1563+14T>A rs371666483
NM_152564.5(VPS13B):c.1563+14T>C rs371666483
NM_152564.5(VPS13B):c.1563+15A>G rs2488763172
NM_152564.5(VPS13B):c.1563+1G>A rs1057516923
NM_152564.5(VPS13B):c.1563+1G>T rs1057516923
NM_152564.5(VPS13B):c.1563+7G>C rs1185654925
NM_152564.5(VPS13B):c.1563+9A>T rs1810037755
NM_152564.5(VPS13B):c.1563+9del rs2488763116
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1564-18G>A
NM_152564.5(VPS13B):c.1564-4G>A rs1170734091
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 rs1476382083
NM_152564.5(VPS13B):c.1564-8G>T rs2132559174
NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter) rs2488765851
NM_152564.5(VPS13B):c.1567A>G (p.Thr523Ala) rs146659631
NM_152564.5(VPS13B):c.1569A>G (p.Thr523=) rs797046094
NM_152564.5(VPS13B):c.1571del (p.Tyr524fs)
NM_152564.5(VPS13B):c.1572C>T (p.Tyr524=) rs2132559241
NM_152564.5(VPS13B):c.1574C>G (p.Thr525Ser) rs2132559245
NM_152564.5(VPS13B):c.1575T>C (p.Thr525=) rs1810085883
NM_152564.5(VPS13B):c.1580T>C (p.Ile527Thr) rs1810086193
NM_152564.5(VPS13B):c.1580T>G (p.Ile527Arg) rs1810086193
NM_152564.5(VPS13B):c.1584T>C (p.Ala528=) rs2132559289
NM_152564.5(VPS13B):c.1595G>T (p.Arg532Leu) rs779736147
NM_152564.5(VPS13B):c.1604del (p.Ala535fs) rs1810088202
NM_152564.5(VPS13B):c.1605T>A (p.Ala535=)
NM_152564.5(VPS13B):c.160C>T (p.Pro54Ser) rs1193369148
NM_152564.5(VPS13B):c.161C>T (p.Pro54Leu) rs1253965070
NM_152564.5(VPS13B):c.1623G>A (p.Leu541=) rs1193051483
NM_152564.5(VPS13B):c.1626T>C (p.Tyr542=) rs2488766178
NM_152564.5(VPS13B):c.1628C>A (p.Thr543Lys) rs2488766185
NM_152564.5(VPS13B):c.1639A>T (p.Thr547Ser) rs142971568
NM_152564.5(VPS13B):c.163_166del (p.Phe55fs) rs2488267195
NM_152564.5(VPS13B):c.1640C>G (p.Thr547Ser)
NM_152564.5(VPS13B):c.1643G>A (p.Ser548Asn)
NM_152564.5(VPS13B):c.1646G>T (p.Gly549Val) rs886062536
NM_152564.5(VPS13B):c.1651+14T>C rs946291856
NM_152564.5(VPS13B):c.1651+1G>T
NM_152564.5(VPS13B):c.1651+20A>G
NM_152564.5(VPS13B):c.1651+3A>G rs1588077106
NM_152564.5(VPS13B):c.1651+5del rs779435450
NM_152564.5(VPS13B):c.1651+8C>T rs2132559576
NM_152564.5(VPS13B):c.1651+9T>A rs2132559589
NM_152564.5(VPS13B):c.1651G>A (p.Gly551Ser) rs1346704740
NM_152564.5(VPS13B):c.1651G>T (p.Gly551Cys) rs1346704740
NM_152564.5(VPS13B):c.1652-12G>C rs2488785806
NM_152564.5(VPS13B):c.1652-2A>T rs2132580903
NM_152564.5(VPS13B):c.1652-5T>G rs2488785863
NM_152564.5(VPS13B):c.1652-7C>G
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=) rs2488785913
NM_152564.5(VPS13B):c.1656C>A (p.Ser552=) rs766281883
NM_152564.5(VPS13B):c.1657A>G (p.Thr553Ala) rs2132580942
NM_152564.5(VPS13B):c.1659A>T (p.Thr553=) rs2488785948
NM_152564.5(VPS13B):c.1664A>C (p.Gln555Pro) rs2132580980
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1665A>G (p.Gln555=) rs1459744373
NM_152564.5(VPS13B):c.1666C>G (p.Gln556Glu) rs1554639027
NM_152564.5(VPS13B):c.1666C>T (p.Gln556Ter)
NM_152564.5(VPS13B):c.1669del (p.Asp557fs) rs1057517283
NM_152564.5(VPS13B):c.1680A>G (p.Ser560=) rs2488786042
NM_152564.5(VPS13B):c.1703_1710delinsAAGTGAA (p.Thr568fs)
NM_152564.5(VPS13B):c.1711_1713del (p.Glu571del) rs777176713
NM_152564.5(VPS13B):c.1713G>A (p.Glu571=) rs753346782
NM_152564.5(VPS13B):c.171T>C (p.Phe57=) rs2132221990
NM_152564.5(VPS13B):c.1721C>G (p.Thr574Ser) rs2132581141
NM_152564.5(VPS13B):c.1721C>T (p.Thr574Ile) rs2132581141
NM_152564.5(VPS13B):c.1726A>G (p.Ser576Gly) rs2132581169
NM_152564.5(VPS13B):c.1727G>C (p.Ser576Thr) rs2132581178
NM_152564.5(VPS13B):c.1727G>T (p.Ser576Ile)
NM_152564.5(VPS13B):c.1732del (p.Val578fs) rs2132581182
NM_152564.5(VPS13B):c.1739G>A (p.Gly580Asp) rs2488786294
NM_152564.5(VPS13B):c.173T>C (p.Leu58Ser) rs2132221998
NM_152564.5(VPS13B):c.174A>T (p.Leu58Phe) rs2132222005
NM_152564.5(VPS13B):c.1752T>C (p.Phe584=) rs2488786333
NM_152564.5(VPS13B):c.1755T>C (p.Arg585=) rs762989966
NM_152564.5(VPS13B):c.1755_1759dup (p.Asp587fs) rs1810518393
NM_152564.5(VPS13B):c.1757T>A (p.Leu586Ter) rs2132581276
NM_152564.5(VPS13B):c.1761T>C (p.Asp587=) rs774331387
NM_152564.5(VPS13B):c.1762del (p.Ser588fs) rs2132581325
NM_152564.5(VPS13B):c.1764C>T (p.Ser588=) rs2132581334
NM_152564.5(VPS13B):c.1766_1775del (p.Ser589fs)
NM_152564.5(VPS13B):c.1769C>A (p.Ala590Glu) rs182397346
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.1770G>T (p.Ala590=)
NM_152564.5(VPS13B):c.1771G>C (p.Val591Leu) rs372593334
NM_152564.5(VPS13B):c.1774C>T (p.His592Tyr) rs1588083628
NM_152564.5(VPS13B):c.178G>T (p.Gly60Ter) rs2488267313
NM_152564.5(VPS13B):c.1807G>A (p.Glu603Lys)
NM_152564.5(VPS13B):c.1814A>C (p.Glu605Ala) rs2132581468
NM_152564.5(VPS13B):c.1819G>T (p.Glu607Ter) rs2488786625
NM_152564.5(VPS13B):c.1826A>T (p.Tyr609Phe) rs2488786644
NM_152564.5(VPS13B):c.1827T>C (p.Tyr609=)
NM_152564.5(VPS13B):c.1830C>T (p.Ser610=) rs2488786661
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 rs2488786762
NM_152564.5(VPS13B):c.1843+17A>G rs1810523467
NM_152564.5(VPS13B):c.1843+1G>A rs1350917774
NM_152564.5(VPS13B):c.1843G>T (p.Asp615Tyr) rs1810522684
NM_152564.5(VPS13B):c.1844-11T>C rs2488802936
NM_152564.5(VPS13B):c.1844-12T>A rs1276511566
NM_152564.5(VPS13B):c.1844-14C>G rs756456382
NM_152564.5(VPS13B):c.1844-14C>T rs756456382
NM_152564.5(VPS13B):c.1844-15T>A rs1223878846
NM_152564.5(VPS13B):c.1844-18T>C rs753271110
NM_152564.5(VPS13B):c.1844-2A>G rs386834073
NM_152564.5(VPS13B):c.1844-6T>G rs2488802969
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=) rs1038327545
NM_152564.5(VPS13B):c.1847T>C (p.Ile616Thr)
NM_152564.5(VPS13B):c.1849A>G (p.Lys617Glu) rs1810824609
NM_152564.5(VPS13B):c.1854T>A (p.Asp618Glu) rs2488803034
NM_152564.5(VPS13B):c.1854T>C (p.Asp618=)
NM_152564.5(VPS13B):c.1869A>G (p.Ile623Met) rs1432601796
NM_152564.5(VPS13B):c.1869A>T (p.Ile623=) rs1432601796
NM_152564.5(VPS13B):c.186T>C (p.Ile62=) rs2132222016
NM_152564.5(VPS13B):c.186T>G (p.Ile62Met) rs2132222016
NM_152564.5(VPS13B):c.1875T>C (p.Asn625=) rs2488803127
NM_152564.5(VPS13B):c.1876C>A (p.Pro626Thr) rs1027919525
NM_152564.5(VPS13B):c.1885G>C (p.Val629Leu) rs1439794949
NM_152564.5(VPS13B):c.1887G>C (p.Val629=) rs138291421
NM_152564.5(VPS13B):c.1890T>C (p.Ala630=) rs776529597
NM_152564.5(VPS13B):c.1891C>A (p.Leu631Ile) rs1810826717
NM_152564.5(VPS13B):c.1894C>G (p.Leu632Val) rs2488803217
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=) rs1490457051
NM_152564.5(VPS13B):c.1900G>T (p.Glu634Ter)
NM_152564.5(VPS13B):c.1906A>G (p.Ile636Val) rs2132596795
NM_152564.5(VPS13B):c.1911T>C (p.Pro637=) rs2488803269
NM_152564.5(VPS13B):c.1916G>A (p.Arg639Gln) rs772958839
NM_152564.5(VPS13B):c.1924A>G (p.Ser642Gly) rs1294611505
NM_152564.5(VPS13B):c.192A>G (p.Glu64=) rs2488267403
NM_152564.5(VPS13B):c.1932T>G (p.Thr644=) rs2488803380
NM_152564.5(VPS13B):c.1935C>T (p.Leu645=) rs2488803400
NM_152564.5(VPS13B):c.1937T>C (p.Leu646Pro)
NM_152564.5(VPS13B):c.1938C>T (p.Leu646=) rs2132596935
NM_152564.5(VPS13B):c.193T>C (p.Leu65=) rs2132222030
NM_152564.5(VPS13B):c.1943G>A (p.Cys648Tyr) rs960819243
NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter) rs988245745
NM_152564.5(VPS13B):c.1944T>C (p.Cys648=) rs988245745
NM_152564.5(VPS13B):c.1947C>G (p.Thr649=) rs1810830228
NM_152564.5(VPS13B):c.1950C>A (p.Cys650Ter) rs1810830776
NM_152564.5(VPS13B):c.1953A>T (p.Thr651=) rs756544361
NM_152564.5(VPS13B):c.1954A>G (p.Ile652Val) rs886062537
NM_152564.5(VPS13B):c.1957T>A (p.Ser653Thr)
NM_152564.5(VPS13B):c.1959C>G (p.Ser653=) rs2132597068
NM_152564.5(VPS13B):c.1969T>C (p.Phe657Leu) rs2488803652
NM_152564.5(VPS13B):c.1972A>T (p.Asn658Tyr) rs2132597122
NM_152564.5(VPS13B):c.1974C>T (p.Asn658=) rs1810832465
NM_152564.5(VPS13B):c.1975T>C (p.Leu659=) rs754099212
NM_152564.5(VPS13B):c.1989A>G (p.Leu663=) rs2488803789
NM_152564.5(VPS13B):c.1990C>T (p.Leu664=) rs778967880
NM_152564.5(VPS13B):c.1992A>C (p.Leu664=) rs758566685
NM_152564.5(VPS13B):c.1995T>C (p.Pro665=) rs2488803836
NM_152564.5(VPS13B):c.1996_2006del (p.Val666fs) rs769834845
NM_152564.5(VPS13B):c.1A>T (p.Met1Leu) rs2488083379
NM_152564.5(VPS13B):c.2001T>A (p.Ile667=) rs747119024
NM_152564.5(VPS13B):c.2004G>A (p.Met668Ile) rs1320412285
NM_152564.5(VPS13B):c.2007A>C (p.Gly669=) rs1242797162
NM_152564.5(VPS13B):c.2007A>T (p.Gly669=) rs1242797162
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs) rs1057517338
NM_152564.5(VPS13B):c.2012A>G (p.Lys671Arg) rs2132597258
NM_152564.5(VPS13B):c.2012_2013dup (p.Asn672fs) rs2488803969
NM_152564.5(VPS13B):c.2013+15T>C rs1810835075
NM_152564.5(VPS13B):c.2013+19T>C rs2488804072
NM_152564.5(VPS13B):c.2013+2341_2166del
NM_152564.5(VPS13B):c.2013+3A>G rs1810834447
NM_152564.5(VPS13B):c.2013+4T>C rs781329635
NM_152564.5(VPS13B):c.2013+9del rs2132597306
NM_152564.5(VPS13B):c.2013G>A (p.Lys671=) rs879220906
NM_152564.5(VPS13B):c.2014-15A>G rs1811373750
NM_152564.5(VPS13B):c.2014-1G>T
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_152564.5(VPS13B):c.2014-7T>A rs1242661261
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter) rs1554645551
NM_152564.5(VPS13B):c.2019A>C (p.Ser673=) rs2488833719
NM_152564.5(VPS13B):c.2020A>G (p.Ser674Gly) rs2488833737
NM_152564.5(VPS13B):c.2032A>G (p.Asn678Asp) rs2132624177
NM_152564.5(VPS13B):c.2033A>G (p.Asn678Ser) rs751669595
NM_152564.5(VPS13B):c.2034T>C (p.Asn678=) rs2132624190
NM_152564.5(VPS13B):c.2034TAC[1] (p.Thr680del) rs1554645561
NM_152564.5(VPS13B):c.2035A>G (p.Thr679Ala) rs755151137
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.2048A>G (p.Gln683Arg) rs372585253
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu) rs372585253
NM_152564.5(VPS13B):c.204T>C (p.His68=) rs2488267516
NM_152564.5(VPS13B):c.2058G>T (p.Arg686=) rs1811377192
NM_152564.5(VPS13B):c.2073T>C (p.Ile691=) rs1811378149
NM_152564.5(VPS13B):c.2074C>A (p.Arg692=) rs180177356
NM_152564.5(VPS13B):c.2078T>C (p.Ile693Thr) rs1811378539
NM_152564.5(VPS13B):c.207A>G (p.Val69=) rs772922484
NM_152564.5(VPS13B):c.2081TGG[1] (p.Val695del) rs765610228
NM_152564.5(VPS13B):c.2083G>A (p.Val695Met) rs763463283
NM_152564.5(VPS13B):c.2089A>G (p.Lys697Glu) rs1563573152
NM_152564.5(VPS13B):c.2091A>T (p.Lys697Asn) rs376694328
NM_152564.5(VPS13B):c.2098C>G (p.Leu700Val) rs2132624430
NM_152564.5(VPS13B):c.2100G>T (p.Leu700=) rs2488834085
NM_152564.5(VPS13B):c.2107dup (p.Ser703fs) rs1811379645
NM_152564.5(VPS13B):c.210A>C (p.Pro70=) rs201517617
NM_152564.5(VPS13B):c.2116A>T (p.Met706Leu) rs751897986
NM_152564.5(VPS13B):c.2117T>C (p.Met706Thr) rs2132624500
NM_152564.5(VPS13B):c.211T>C (p.Trp71Arg) rs886062534
NM_152564.5(VPS13B):c.2127A>G (p.Glu709=) rs1388916447
NM_152564.5(VPS13B):c.2139T>A (p.His713Gln) rs1811381345
NM_152564.5(VPS13B):c.2142G>C (p.Val714=) rs2488834260
NM_152564.5(VPS13B):c.2146A>C (p.Ser716Arg) rs2488834294
NM_152564.5(VPS13B):c.2148C>T (p.Ser716=) rs2132624558
NM_152564.5(VPS13B):c.2149A>G (p.Ser717Gly) rs2132624568
NM_152564.5(VPS13B):c.2157T>C (p.Thr719=) rs2488834346
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2177T>C (p.Leu726Pro) rs2488834422
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs) rs2132624625
NM_152564.5(VPS13B):c.2184T>C (p.Tyr728=) rs757079471
NM_152564.5(VPS13B):c.2190T>A (p.Tyr730Ter) rs2488834482
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter) rs2488834482
NM_152564.5(VPS13B):c.2193A>G (p.Val731=) rs1282356403
NM_152564.5(VPS13B):c.219A>G (p.Lys73=) rs1842838550
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs) rs386834075
NM_152564.5(VPS13B):c.2206A>C (p.Lys736Gln)
NM_152564.5(VPS13B):c.2208+10G>A rs1386411395
NM_152564.5(VPS13B):c.2208+19_2208+21del rs2488834650
NM_152564.5(VPS13B):c.2208+9del rs2132624713
NM_152564.5(VPS13B):c.2208G>C (p.Lys736Asn) rs2488834570
NM_152564.5(VPS13B):c.2209-14T>C rs935426581
NM_152564.5(VPS13B):c.2209-17T>C rs2488877143
NM_152564.5(VPS13B):c.2209-19T>A rs2488877137
NM_152564.5(VPS13B):c.2209-20A>C
NM_152564.5(VPS13B):c.2209-2A>G rs2488877268
NM_152564.5(VPS13B):c.2209-8T>G rs1426142075
NM_152564.5(VPS13B):c.2209-9T>G rs1256221836
NM_152564.5(VPS13B):c.2217T>C (p.Gly739=) rs2488877316
NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter) rs2488877336
NM_152564.5(VPS13B):c.2241G>C (p.Leu747Phe) rs757030166
NM_152564.5(VPS13B):c.2244T>G (p.Asp748Glu) rs146450992
NM_152564.5(VPS13B):c.2247C>A (p.Cys749Ter) rs2488877462
NM_152564.5(VPS13B):c.2253A>T (p.Gly751=) rs1812239434
NM_152564.5(VPS13B):c.2258A>G (p.Tyr753Cys) rs2488877541
NM_152564.5(VPS13B):c.225T>C (p.Gly75=) rs775859207
NM_152564.5(VPS13B):c.2265A>G (p.Leu755=) rs2132663369
NM_152564.5(VPS13B):c.2268del (p.Val757fs) rs1057516532
NM_152564.5(VPS13B):c.2269G>A (p.Val757Ile) rs1202638841
NM_152564.5(VPS13B):c.2274del (p.Val759fs) rs2488877642
NM_152564.5(VPS13B):c.2281C>T (p.Pro761Ser) rs1812241248
NM_152564.5(VPS13B):c.2283C>G (p.Pro761=) rs2132663446
NM_152564.5(VPS13B):c.2283C>T (p.Pro761=) rs2132663446
NM_152564.5(VPS13B):c.2289C>T (p.Phe763=) rs755882379
NM_152564.5(VPS13B):c.2292C>T (p.Ser764=) rs1812241934
NM_152564.5(VPS13B):c.2295T>A (p.Thr765=) rs2488877734
NM_152564.5(VPS13B):c.229G>A (p.Glu77Lys) rs2488267709
NM_152564.5(VPS13B):c.22C>G (p.Pro8Ala) rs756556871
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs) rs386834076
NM_152564.5(VPS13B):c.2301T>A (p.Leu767=) rs2132663494
NM_152564.5(VPS13B):c.2306G>C (p.Gly769Ala) rs1812242519
NM_152564.5(VPS13B):c.2308A>C (p.Lys770Gln) rs2488877781
NM_152564.5(VPS13B):c.2309A>G (p.Lys770Arg) rs2132663512
NM_152564.5(VPS13B):c.2314C>T (p.Leu772=) rs2488877794
NM_152564.5(VPS13B):c.2321_2322del (p.Leu774fs) rs2132663525
NM_152564.5(VPS13B):c.232C>A (p.Pro78Thr) rs954707371
NM_152564.5(VPS13B):c.2333+11C>G rs757148916
NM_152564.5(VPS13B):c.2333+12A>G
NM_152564.5(VPS13B):c.2333+13T>C rs2488878001
NM_152564.5(VPS13B):c.2333+16T>A rs2488878033
NM_152564.5(VPS13B):c.2333+1G>T rs1812243683
NM_152564.5(VPS13B):c.2333+2T>C rs1554652265
NM_152564.5(VPS13B):c.2333+3A>G rs2488877930
NM_152564.5(VPS13B):c.2334-10T>C rs2488954353
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 rs1221712204
NM_152564.5(VPS13B):c.2334-16_2334-11del rs986620460
NM_152564.5(VPS13B):c.2334-18T>A rs775764286
NM_152564.5(VPS13B):c.2334-18_2334-15del rs2132727808
NM_152564.5(VPS13B):c.2334-19T>C rs911409289
NM_152564.5(VPS13B):c.2334-20C>A rs2488954253
NM_152564.5(VPS13B):c.2334-2A>G rs1554665974
NM_152564.5(VPS13B):c.2334-3C>G rs749105779
NM_152564.5(VPS13B):c.2334-4G>A rs2488954397
NM_152564.5(VPS13B):c.2334-6G>A rs564691751
NM_152564.5(VPS13B):c.2334-6G>T rs564691751
NM_152564.5(VPS13B):c.2334-9C>T rs2132727896
NM_152564.5(VPS13B):c.2334G>A (p.Trp778Ter) rs2132727940
NM_152564.5(VPS13B):c.2338A>C (p.Lys780Gln) rs1359263734
NM_152564.5(VPS13B):c.2338A>G (p.Lys780Glu) rs1359263734
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter) rs1057516681
NM_152564.5(VPS13B):c.2347_2348del (p.Gln783fs) rs1813682416
NM_152564.5(VPS13B):c.2355T>A (p.Ala785=) rs1813682810
NM_152564.5(VPS13B):c.2355T>C (p.Ala785=)
NM_152564.5(VPS13B):c.2356dup (p.Ile786fs)
NM_152564.5(VPS13B):c.2361T>A (p.Thr787=) rs1813683102
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter) rs1554666009
NM_152564.5(VPS13B):c.2367T>C (p.Gly789=) rs2488954577
NM_152564.5(VPS13B):c.236T>C (p.Val79Ala) rs1587947443
NM_152564.5(VPS13B):c.2380C>A (p.Pro794Thr) rs754548698
NM_152564.5(VPS13B):c.2381del (p.Pro794fs) rs2132728101
NM_152564.5(VPS13B):c.2383A>T (p.Asn795Tyr) rs781012935
NM_152564.5(VPS13B):c.2385T>C (p.Asn795=) rs2132728136
NM_152564.5(VPS13B):c.2387_2388del (p.Leu796fs) rs2132728144
NM_152564.5(VPS13B):c.2391A>T (p.Thr797=) rs779558474
NM_152564.5(VPS13B):c.2395C>A (p.Gln799Lys) rs746417103
NM_152564.5(VPS13B):c.2400T>G (p.Ala800=) rs2132728204
NM_152564.5(VPS13B):c.2401A>G (p.Thr801Ala)
NM_152564.5(VPS13B):c.2404A>G (p.Arg802Gly) rs1312204061
NM_152564.5(VPS13B):c.240A>G (p.Val80=) rs764718035
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter) rs869312923
NM_152564.5(VPS13B):c.2414C>G (p.Thr805Arg) rs1813686473
NM_152564.5(VPS13B):c.2422T>C (p.Leu808=) rs2488954894
NM_152564.5(VPS13B):c.2425C>T (p.Gln809Ter) rs2132728269
NM_152564.5(VPS13B):c.2427A>G (p.Gln809=) rs2488954925
NM_152564.5(VPS13B):c.2431A>C (p.Ile811Leu) rs370570714
NM_152564.5(VPS13B):c.2431A>G (p.Ile811Val) rs370570714
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_152564.5(VPS13B):c.2441_2442del (p.Ser814fs)
NM_152564.5(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla) rs1813688418
NM_152564.5(VPS13B):c.2445G>A (p.Trp815Ter) rs1452649119
NM_152564.5(VPS13B):c.2448_2449dup (p.His817fs)
NM_152564.5(VPS13B):c.2452C>T (p.Leu818Phe) rs2132728416
NM_152564.5(VPS13B):c.2478G>C (p.Val826=)
NM_152564.5(VPS13B):c.2488T>C (p.Leu830=) rs1449471227
NM_152564.5(VPS13B):c.2488T>G (p.Leu830Val) rs1449471227
NM_152564.5(VPS13B):c.2495A>G (p.Asn832Ser) rs1286492322
NM_152564.5(VPS13B):c.2496T>C (p.Asn832=) rs2132728537
NM_152564.5(VPS13B):c.2499A>G (p.Glu833=) rs2132728546
NM_152564.5(VPS13B):c.249C>G (p.Ile83Met) rs765314153
NM_152564.5(VPS13B):c.2500A>G (p.Ile834Val) rs2488955429
NM_152564.5(VPS13B):c.2505C>T (p.Phe835=) rs2488955438
NM_152564.5(VPS13B):c.2507del (p.Leu836fs) rs2488955455
NM_152564.5(VPS13B):c.2508A>G (p.Leu836=) rs1813692053
NM_152564.5(VPS13B):c.250A>G (p.Asn84Asp) rs1842839907
NM_152564.5(VPS13B):c.2513T>C (p.Ile838Thr) rs2488955496
NM_152564.5(VPS13B):c.2513_2514del (p.Ile838fs) rs2132728587
NM_152564.5(VPS13B):c.2515+10_2515+11del rs756906184
NM_152564.5(VPS13B):c.2515+11A>G rs2132728635
NM_152564.5(VPS13B):c.2515+12G>T
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+37177T>C rs207469599
NM_152564.5(VPS13B):c.2515+7G>A rs2488955552
NM_152564.5(VPS13B):c.2515G>C (p.Gly839Arg) rs2488955515
NM_152564.5(VPS13B):c.2516-10C>G rs1391862156
NM_152564.5(VPS13B):c.2516-10C>T rs1391862156
NM_152564.5(VPS13B):c.2516-17C>T rs1198342716
NM_152564.5(VPS13B):c.2516-2A>G rs1554706114
NM_152564.5(VPS13B):c.2516-5A>G rs756282496
NM_152564.5(VPS13B):c.2516-6T>C rs2132994722
NM_152564.5(VPS13B):c.2518G>A (p.Val840Met) rs141694201
NM_152564.5(VPS13B):c.2521A>T (p.Lys841Ter) rs2489222997
NM_152564.5(VPS13B):c.2522A>G (p.Lys841Arg) rs1376390404
NM_152564.5(VPS13B):c.2523A>G (p.Lys841=) rs1356337285
NM_152564.5(VPS13B):c.2527_2528insT (p.Lys843fs) rs1818768251
NM_152564.5(VPS13B):c.2531A>G (p.Asn844Ser) rs2132994774
NM_152564.5(VPS13B):c.2536C>G (p.Leu846Val) rs934545731
NM_152564.5(VPS13B):c.2536del (p.Leu846fs) rs1818768394
NM_152564.5(VPS13B):c.2543C>T (p.Thr848Ile) rs1818769668
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs) rs1554706149
NM_152564.5(VPS13B):c.2555C>T (p.Ser852Leu) rs147682334
NM_152564.5(VPS13B):c.2557del (p.Ile853fs)
NM_152564.5(VPS13B):c.2558del (p.Ile853fs) rs2489223096
NM_152564.5(VPS13B):c.2560C>T (p.Gln854Ter) rs2132994876
NM_152564.5(VPS13B):c.2567T>C (p.Val856Ala) rs1588198594
NM_152564.5(VPS13B):c.2571A>G (p.Glu857=) rs2489223128
NM_152564.5(VPS13B):c.2572T>C (p.Leu858=) rs2489223133
NM_152564.5(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys) rs1554706171
NM_152564.5(VPS13B):c.2583C>A (p.Cys861Ter) rs199868590
NM_152564.5(VPS13B):c.2584A>G (p.Ser862Gly) rs2132994953
NM_152564.5(VPS13B):c.2586C>T (p.Ser862=) rs2132994959
NM_152564.5(VPS13B):c.2589A>G (p.Thr863=) rs865998297
NM_152564.5(VPS13B):c.2589A>T (p.Thr863=) rs865998297
NM_152564.5(VPS13B):c.2592A>G (p.Ser864=) rs2489223196
NM_152564.5(VPS13B):c.259del (p.Glu87fs) rs2488267977
NM_152564.5(VPS13B):c.2603G>A (p.Cys868Tyr) rs1466327941
NM_152564.5(VPS13B):c.2607C>G (p.Ala869=) rs2132995061
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.2620G>A (p.Gly874Arg)
NM_152564.5(VPS13B):c.2625A>G (p.Ser875=) rs2489223278
NM_152564.5(VPS13B):c.2640C>T (p.Ala880=) rs768556981
NM_152564.5(VPS13B):c.2640dup (p.Lys881fs)
NM_152564.5(VPS13B):c.2642A>C (p.Lys881Thr) rs2132995145
NM_152564.5(VPS13B):c.2646C>T (p.Ala882=) rs369124790
NM_152564.5(VPS13B):c.2648C>T (p.Pro883Leu) rs1192025517
NM_152564.5(VPS13B):c.2649A>G (p.Pro883=) rs2489223354
NM_152564.5(VPS13B):c.2650+17C>A rs753268999
NM_152564.5(VPS13B):c.2650+18G>T rs1303442103
NM_152564.5(VPS13B):c.2650+19T>C rs2489223438
NM_152564.5(VPS13B):c.2650+1G>A rs1554706285
NM_152564.5(VPS13B):c.2650+8C>T rs2132995227
NM_152564.5(VPS13B):c.2651-12A>G rs886062538
NM_152564.5(VPS13B):c.2651-18A>G rs1436555458
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2651-4T>C rs2489226314
NM_152564.5(VPS13B):c.2651-5T>G rs1818823991
NM_152564.5(VPS13B):c.2670G>A (p.Lys890=) rs2132998272
NM_152564.5(VPS13B):c.2676T>A (p.Ile892=) rs2132998319
NM_152564.5(VPS13B):c.2677C>A (p.Pro893Thr) rs373346647
NM_152564.5(VPS13B):c.2677C>G (p.Pro893Ala) rs373346647
NM_152564.5(VPS13B):c.2679C>G (p.Pro893=) rs2489226483
NM_152564.5(VPS13B):c.2679C>T (p.Pro893=)
NM_152564.5(VPS13B):c.2685T>A (p.Leu895=) rs762130581
NM_152564.5(VPS13B):c.2690del (p.Gly897fs)
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs) rs1554706662
NM_152564.5(VPS13B):c.2693C>T (p.Pro898Leu) rs1818826321
NM_152564.5(VPS13B):c.2703T>C (p.Thr901=) rs750734762
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=) rs2489226628
NM_152564.5(VPS13B):c.2723del (p.Lys908fs) rs2489226644
NM_152564.5(VPS13B):c.2725T>G (p.Trp909Gly) rs2489226660
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_152564.5(VPS13B):c.2730C>T (p.Leu910=) rs2132998543
NM_152564.5(VPS13B):c.2732A>G (p.Asn911Ser) rs1818828701
NM_152564.5(VPS13B):c.2738G>C (p.Ser913Thr) rs751622263
NM_152564.5(VPS13B):c.2740A>C (p.Arg914=) rs2489226713
NM_152564.5(VPS13B):c.2743A>T (p.Lys915Ter)
NM_152564.5(VPS13B):c.2745G>A (p.Lys915=) rs2489226737
NM_152564.5(VPS13B):c.2750_2751del (p.Glu917fs) rs2489226781
NM_152564.5(VPS13B):c.2752T>C (p.Ser918Pro) rs886062539
NM_152564.5(VPS13B):c.2759T>A (p.Leu920Ter)
NM_152564.5(VPS13B):c.2763T>G (p.Ala921=) rs2489226843
NM_152564.5(VPS13B):c.2769T>C (p.Asp923=)
NM_152564.5(VPS13B):c.276T>A (p.Leu92=) rs2488268058
NM_152564.5(VPS13B):c.276del (p.Lys93fs) rs1185329868
NM_152564.5(VPS13B):c.2771del (p.Asp923_Leu924insTer) rs2489226859
NM_152564.5(VPS13B):c.2776G>A (p.Ala926Thr) rs2489226882
NM_152564.5(VPS13B):c.2778C>T (p.Ala926=) rs2489226901
NM_152564.5(VPS13B):c.2778del (p.Phe927fs) rs1818830393
NM_152564.5(VPS13B):c.2779T>A (p.Phe927Ile)
NM_152564.5(VPS13B):c.2783C>G (p.Thr928Arg) rs1563641612
NM_152564.5(VPS13B):c.2784A>C (p.Thr928=) rs2132998726
NM_152564.5(VPS13B):c.2799A>G (p.Gln933=) rs1818831444
NM_152564.5(VPS13B):c.2800T>C (p.Tyr934His) rs1679704470
NM_152564.5(VPS13B):c.2802T>C (p.Tyr934=) rs906591800
NM_152564.5(VPS13B):c.2811C>T (p.Tyr937=) rs1330143562
NM_152564.5(VPS13B):c.2812T>G (p.Cys938Gly) rs1818832537
NM_152564.5(VPS13B):c.2814C>T (p.Cys938=)
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs) rs1057517255
NM_152564.5(VPS13B):c.2824+18A>G rs756055744
NM_152564.5(VPS13B):c.2824+2T>G rs141703746
NM_152564.5(VPS13B):c.2824+5_2824+11dup rs2489227144
NM_152564.5(VPS13B):c.2824+7A>G rs2132999013
NM_152564.5(VPS13B):c.2824+97G>C rs7840337
NM_152564.5(VPS13B):c.2824G>T (p.Gly942Cys) rs370336663
NM_152564.5(VPS13B):c.2825-11T>C rs2489826413
NM_152564.5(VPS13B):c.2825-13T>C rs1159899593
NM_152564.5(VPS13B):c.2825-14A>G rs2489826380
NM_152564.5(VPS13B):c.2825-9G>A rs2133295036
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) rs1554765140
NM_152564.5(VPS13B):c.2829T>C (p.Ala943=) rs1359143479
NM_152564.5(VPS13B):c.2830G>T (p.Val944Leu) rs753607562
NM_152564.5(VPS13B):c.2832A>G (p.Val944=) rs2489826599
NM_152564.5(VPS13B):c.2841C>T (p.Cys947=)
NM_152564.5(VPS13B):c.2843G>A (p.Ser948Asn) rs749988222
NM_152564.5(VPS13B):c.2845A>G (p.Ile949Val) rs758076178
NM_152564.5(VPS13B):c.2852G>T (p.Gly951Val) rs770406179
NM_152564.5(VPS13B):c.2855del (p.Leu952fs) rs1554765173
NM_152564.5(VPS13B):c.285G>A (p.Gly95=) rs2132222228
NM_152564.5(VPS13B):c.285G>C (p.Gly95=) rs2132222228
NM_152564.5(VPS13B):c.285dup (p.Ile96fs) rs2488268134
NM_152564.5(VPS13B):c.2864A>G (p.Asn955Ser) rs771483197
NM_152564.5(VPS13B):c.2872C>A (p.Pro958Thr) rs2489827010
NM_152564.5(VPS13B):c.2877C>A (p.Ile959=) rs371301713
NM_152564.5(VPS13B):c.2879T>G (p.Leu960Ter) rs775378782
NM_152564.5(VPS13B):c.2883T>A (p.Tyr961Ter)
NM_152564.5(VPS13B):c.2887T>G (p.Trp963Gly) rs761581467
NM_152564.5(VPS13B):c.2889del (p.Trp963fs) rs1563700124
NM_152564.5(VPS13B):c.2893_2895del (p.Ile965del) rs748137454
NM_152564.5(VPS13B):c.2895C>T (p.Ile965=) rs757940601
NM_152564.5(VPS13B):c.2902C>T (p.Pro968Ser)
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter) rs2133295344
NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter) rs2489827477
NM_152564.5(VPS13B):c.291+10T>A rs2132222283
NM_152564.5(VPS13B):c.291+10T>G rs2132222283
NM_152564.5(VPS13B):c.291+11A>G rs1423232889
NM_152564.5(VPS13B):c.291+13T>C rs2488268331
NM_152564.5(VPS13B):c.291+17C>G rs2488268371
NM_152564.5(VPS13B):c.291+1G>A rs1057516857
NM_152564.5(VPS13B):c.291+20A>C rs2132222331
NM_152564.5(VPS13B):c.291+2T>A rs2488268190
NM_152564.5(VPS13B):c.292-12A>T rs2488604572
NM_152564.5(VPS13B):c.292-18T>C rs2132431309
NM_152564.5(VPS13B):c.292-1G>A rs1057520768
NM_152564.5(VPS13B):c.292-2A>G rs386834079
NM_152564.5(VPS13B):c.2923C>A (p.His975Asn) rs1813997088
NM_152564.5(VPS13B):c.2927T>C (p.Met976Thr) rs1439673220
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter) rs1563700205
NM_152564.5(VPS13B):c.2934+14A>C rs187151724
NM_152564.5(VPS13B):c.2934+19A>T rs1563700225
NM_152564.5(VPS13B):c.2934+1G>T rs775729058
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152564.5(VPS13B):c.2934+25dup rs770873113
NM_152564.5(VPS13B):c.2934+2T>A rs2489827712
NM_152564.5(VPS13B):c.2934+2T>C
NM_152564.5(VPS13B):c.2934+7G>A rs368439781
NM_152564.5(VPS13B):c.2935-10C>T rs1814449043
NM_152564.5(VPS13B):c.2935-14T>G rs2489874771
NM_152564.5(VPS13B):c.2935-17A>G rs773270824
NM_152564.5(VPS13B):c.2935-1G>A rs2133312466
NM_152564.5(VPS13B):c.2935-20T>C rs769588013
NM_152564.5(VPS13B):c.2935-4C>A rs207469601
NM_152564.5(VPS13B):c.2935C>T (p.Gln979Ter) rs2489874915
NM_152564.5(VPS13B):c.2940T>C (p.Pro980=) rs2489874933
NM_152564.5(VPS13B):c.2943G>T (p.Val981=) rs759221342
NM_152564.5(VPS13B):c.2946A>C (p.Val982=) rs2133312490
NM_152564.5(VPS13B):c.2946A>G (p.Val982=) rs2133312490
NM_152564.5(VPS13B):c.2946A>T (p.Val982=) rs2133312490
NM_152564.5(VPS13B):c.2948C>A (p.Ala983Asp) rs2489874989
NM_152564.5(VPS13B):c.2959G>A (p.Val987Ile) rs1814450578
NM_152564.5(VPS13B):c.2959G>C (p.Val987Leu)
NM_152564.5(VPS13B):c.2963dup (p.Met988fs) rs2489875061
NM_152564.5(VPS13B):c.2965C>A (p.Pro989Thr) rs2489875068
NM_152564.5(VPS13B):c.2972G>A (p.Cys991Tyr)
NM_152564.5(VPS13B):c.2976A>G (p.Arg992=) rs2133312565
NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter) rs2489875170
NM_152564.5(VPS13B):c.2982A>G (p.Lys994=) rs750994865
NM_152564.5(VPS13B):c.2985G>A (p.Glu995=) rs1484738776
NM_152564.5(VPS13B):c.2988T>A (p.Asp996Glu) rs758840412
NM_152564.5(VPS13B):c.2989dup (p.Glu997fs) rs2133312597
NM_152564.5(VPS13B):c.2991G>A (p.Glu997=) rs2489875220
NM_152564.5(VPS13B):c.2993T>G (p.Val998Gly) rs892148263
NM_152564.5(VPS13B):c.3000T>A (p.Ile1000=) rs1465563233
NM_152564.5(VPS13B):c.3005G>A (p.Ser1002Asn) rs2489875384
NM_152564.5(VPS13B):c.3009C>A (p.Ala1003=) rs1416404135
NM_152564.5(VPS13B):c.3010C>T (p.Pro1004Ser) rs2133312661
NM_152564.5(VPS13B):c.3011C>A (p.Pro1004His) rs781433210
NM_152564.5(VPS13B):c.3013T>A (p.Leu1005Met) rs1563704394
NM_152564.5(VPS13B):c.3013T>C (p.Leu1005=) rs1563704394
NM_152564.5(VPS13B):c.3015G>A (p.Leu1005=) rs1339514934
NM_152564.5(VPS13B):c.3017C>A (p.Ala1006Glu) rs201566948
NM_152564.5(VPS13B):c.3020A>C (p.Lys1007Thr) rs1297164249
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs) rs1554767735
NM_152564.5(VPS13B):c.3021G>A (p.Lys1007=) rs1043986535
NM_152564.5(VPS13B):c.3024G>A (p.Gln1008=)
NM_152564.5(VPS13B):c.3025C>T (p.Gln1009Ter) rs2133312718
NM_152564.5(VPS13B):c.3026A>T (p.Gln1009Leu) rs1814454254
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His) rs771021187
NM_152564.5(VPS13B):c.3032_3033del (p.Tyr1011fs) rs2489875713
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.3054C>T (p.Ser1018=)
NM_152564.5(VPS13B):c.3058C>A (p.Pro1020Thr) rs917905889
NM_152564.5(VPS13B):c.3060T>C (p.Pro1020=) rs2489875914
NM_152564.5(VPS13B):c.3067A>T (p.Thr1023Ser) rs1814455883
NM_152564.5(VPS13B):c.3068del (p.Thr1023fs) rs2133312827
NM_152564.5(VPS13B):c.3070A>G (p.Lys1024Glu) rs775278199
NM_152564.5(VPS13B):c.3072A>G (p.Lys1024=) rs2133312842
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs) rs1057516834
NM_152564.5(VPS13B):c.3075G>C (p.Thr1025=) rs141637316
NM_152564.5(VPS13B):c.3082+11A>G rs1439544672
NM_152564.5(VPS13B):c.3082+12G>A rs1814457482
NM_152564.5(VPS13B):c.3082+13T>C rs2489876237
NM_152564.5(VPS13B):c.3082+14A>G rs1373920393
NM_152564.5(VPS13B):c.3082+17G>A rs2133312921
NM_152564.5(VPS13B):c.3082+18dup rs2489876364
NM_152564.5(VPS13B):c.3082+19A>G rs1309105481
NM_152564.5(VPS13B):c.3082+1G>A rs2489876069
NM_152564.5(VPS13B):c.3082+9C>A rs529476662
NM_152564.5(VPS13B):c.3083-11C>T rs2490098785
NM_152564.5(VPS13B):c.3083-17G>T
NM_152564.5(VPS13B):c.3083-1G>A rs1563726973
NM_152564.5(VPS13B):c.3083-6A>C rs2490098853
NM_152564.5(VPS13B):c.3083-6A>G rs2490098853
NM_152564.5(VPS13B):c.3083-7_3083-6dup rs2490098842
NM_152564.5(VPS13B):c.3083-8G>C rs201973611
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=) rs2133412233
NM_152564.5(VPS13B):c.3093A>G (p.Pro1031=) rs764269562
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs) rs1554788238
NM_152564.5(VPS13B):c.3099A>G (p.Ser1033=) rs1480645575
NM_152564.5(VPS13B):c.309T>C (p.Cys103=) rs2132431451
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs) rs1057516926
NM_152564.5(VPS13B):c.3105T>C (p.Pro1035=)
NM_152564.5(VPS13B):c.3108T>G (p.Val1036=) rs2490099161
NM_152564.5(VPS13B):c.310G>A (p.Gly104Ser) rs2488604798
NM_152564.5(VPS13B):c.3118T>A (p.Leu1040Met) rs746830200
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs) rs1057517447
NM_152564.5(VPS13B):c.3147T>C (p.Pro1049=) rs2133412382
NM_152564.5(VPS13B):c.3151G>T (p.Glu1051Ter) rs2133412405
NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter) rs2490099417
NM_152564.5(VPS13B):c.3158T>A (p.Met1053Lys) rs1271790009
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter) rs2490099465
NM_152564.5(VPS13B):c.3168T>C (p.Phe1056=) rs747645022
NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter) rs2490099543
NM_152564.5(VPS13B):c.3177T>A (p.Ile1059=) rs2133412452
NM_152564.5(VPS13B):c.3178G>A (p.Val1060Ile) rs1259248038
NM_152564.5(VPS13B):c.3179T>C (p.Val1060Ala)
NM_152564.5(VPS13B):c.3183G>T (p.Trp1061Cys) rs1817118329
NM_152564.5(VPS13B):c.3186T>C (p.Asn1062=) rs2490099600
NM_152564.5(VPS13B):c.3187G>A (p.Ala1063Thr) rs1166850181
NM_152564.5(VPS13B):c.3192G>A (p.Val1064=) rs2490099642
NM_152564.5(VPS13B):c.3194_3198del (p.Lys1065fs) rs2133412472
NM_152564.5(VPS13B):c.31A>T (p.Met11Leu) rs2488083712
NM_152564.5(VPS13B):c.3200T>C (p.Leu1067Pro) rs1563727071
NM_152564.5(VPS13B):c.3205C>T (p.Leu1069=) rs1375304290
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs) rs2490099762
NM_152564.5(VPS13B):c.3210+10A>T rs2133412544
NM_152564.5(VPS13B):c.3210+10_3210+11del rs2490099831
NM_152564.5(VPS13B):c.3210+16G>T rs2490099901
NM_152564.5(VPS13B):c.3210+16_3210+19del
NM_152564.5(VPS13B):c.3210+9A>C rs1430245354
NM_152564.5(VPS13B):c.3210G>C (p.Gln1070His) rs1411916211
NM_152564.5(VPS13B):c.3211-12T>C rs1791773137
NM_152564.5(VPS13B):c.3211-9C>G rs772598316
NM_152564.5(VPS13B):c.3211-9C>T rs772598316
NM_152564.5(VPS13B):c.3213T>C (p.Leu1071=) rs1588384604
NM_152564.5(VPS13B):c.3214G>A (p.Glu1072Lys) rs1370204743
NM_152564.5(VPS13B):c.3214G>T (p.Glu1072Ter) rs1370204743
NM_152564.5(VPS13B):c.3217G>A (p.Val1073Ile) rs2490161541
NM_152564.5(VPS13B):c.3221A>G (p.Gln1074Arg) rs1348314962
NM_152564.5(VPS13B):c.3222A>G (p.Gln1074=) rs979109725
NM_152564.5(VPS13B):c.3225T>C (p.Ser1075=) rs2133440516
NM_152564.5(VPS13B):c.322A>G (p.Thr108Ala) rs2132431469
NM_152564.5(VPS13B):c.3230G>A (p.Cys1077Tyr) rs2490161652
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs) rs2490161693
NM_152564.5(VPS13B):c.3237T>C (p.Phe1079=) rs2133440561
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3244A>C (p.Asn1082His) rs765577339
NM_152564.5(VPS13B):c.3244A>G (p.Asn1082Asp) rs765577339
NM_152564.5(VPS13B):c.3249T>A (p.Asp1083Glu) rs1196083061
NM_152564.5(VPS13B):c.3249T>C (p.Asp1083=) rs1196083061
NM_152564.5(VPS13B):c.324C>A (p.Thr108=) rs1846416304
NM_152564.5(VPS13B):c.3252C>A (p.Ser1084Arg) rs763011957
NM_152564.5(VPS13B):c.3252C>T (p.Ser1084=) rs763011957
NM_152564.5(VPS13B):c.3253C>T (p.Leu1085=) rs2133440599
NM_152564.5(VPS13B):c.3261C>T (p.Ser1087=) rs2490161888
NM_152564.5(VPS13B):c.3277T>G (p.Ser1093Ala) rs752514763
NM_152564.5(VPS13B):c.3279T>C (p.Ser1093=) rs1817722882
NM_152564.5(VPS13B):c.3285C>T (p.Asp1095=) rs2133440683
NM_152564.5(VPS13B):c.3291T>C (p.Pro1097=) rs2133440688
NM_152564.5(VPS13B):c.3293G>A (p.Gly1098Glu) rs755738319
NM_152564.5(VPS13B):c.3294A>C (p.Gly1098=) rs777439630
NM_152564.5(VPS13B):c.3300A>T (p.Val1100=) rs770402973
NM_152564.5(VPS13B):c.3307T>A (p.Trp1103Arg) rs747406522
NM_152564.5(VPS13B):c.3307_3310dup (p.Tyr1104fs) rs2490162265
NM_152564.5(VPS13B):c.3308G>A (p.Trp1103Ter) rs2490162291
NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter) rs2490162302
NM_152564.5(VPS13B):c.3312C>T (p.Tyr1104=) rs2490162560
NM_152564.5(VPS13B):c.3315T>C (p.His1105=) rs2133440745
NM_152564.5(VPS13B):c.3324C>A (p.Thr1108=) rs762308992
NM_152564.5(VPS13B):c.3326G>A (p.Ser1109Asn) rs1474402474
NM_152564.5(VPS13B):c.3327C>T (p.Ser1109=) rs2133440777
NM_152564.5(VPS13B):c.332G>A (p.Ser111Asn) rs1846417432
NM_152564.5(VPS13B):c.332G>T (p.Ser111Ile) rs1846417432
NM_152564.5(VPS13B):c.3330G>T (p.Met1110Ile) rs773628960
NM_152564.5(VPS13B):c.3336A>G (p.Gly1112=) rs751695118
NM_152564.5(VPS13B):c.333T>C (p.Ser111=) rs2132431523
NM_152564.5(VPS13B):c.3341T>C (p.Leu1114Pro) rs1817725649
NM_152564.5(VPS13B):c.3342T>A (p.Leu1114=) rs2490162802
NM_152564.5(VPS13B):c.3344_3354del (p.Val1115fs)
NM_152564.5(VPS13B):c.3345C>G (p.Val1115=) rs2133440823
NM_152564.5(VPS13B):c.3345C>T (p.Val1115=) rs2133440823
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs) rs1554793521
NM_152564.5(VPS13B):c.3351T>C (p.Cys1117=) rs2490162902
NM_152564.5(VPS13B):c.3354G>T (p.Leu1118Phe) rs1817726307
NM_152564.5(VPS13B):c.335C>A (p.Thr112Asn) rs1184653913
NM_152564.5(VPS13B):c.3369dup (p.Ile1124fs)
NM_152564.5(VPS13B):c.3372T>G (p.Ile1124Met) rs1292302782
NM_152564.5(VPS13B):c.3375T>G (p.Ser1125Arg) rs2490163079
NM_152564.5(VPS13B):c.3376G>A (p.Ala1126Thr) rs1817727523
NM_152564.5(VPS13B):c.3382C>A (p.His1128Asn) rs1563732631
NM_152564.5(VPS13B):c.3384C>T (p.His1128=) rs2490163155
NM_152564.5(VPS13B):c.3390T>A (p.Tyr1130Ter) rs2490163240
NM_152564.5(VPS13B):c.3394G>T (p.Glu1132Ter) rs2490163288
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser) rs781781537
NM_152564.5(VPS13B):c.3400dup (p.Leu1134fs)
NM_152564.5(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del) rs1554793589
NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys) rs199902569
NM_152564.5(VPS13B):c.3414A>G (p.Pro1138=) rs773717151
NM_152564.5(VPS13B):c.3414A>T (p.Pro1138=) rs773717151
NM_152564.5(VPS13B):c.3423C>A (p.Ile1141=) rs1180404619
NM_152564.5(VPS13B):c.3426A>C (p.Pro1142=) rs2490163536
NM_152564.5(VPS13B):c.3429A>G (p.Arg1143=) rs1817730016
NM_152564.5(VPS13B):c.3438T>A (p.Leu1146=) rs2490163673
NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter) rs2490163685
NM_152564.5(VPS13B):c.3443A>G (p.Glu1148Gly) rs2490163721
NM_152564.5(VPS13B):c.3444A>C (p.Glu1148Asp) rs1292932616
NM_152564.5(VPS13B):c.3445+11A>C rs2490163838
NM_152564.5(VPS13B):c.3445+11A>T rs2490163838
NM_152564.5(VPS13B):c.3445+14T>A rs2490163852
NM_152564.5(VPS13B):c.3445+1G>A
NM_152564.5(VPS13B):c.3445+1G>T rs1034855385
NM_152564.5(VPS13B):c.3445+20dup rs35430921
NM_152564.5(VPS13B):c.3445+2T>A rs2490163758
NM_152564.5(VPS13B):c.3445+3A>T rs775461539
NM_152564.5(VPS13B):c.3445+7G>A rs2133441083
NM_152564.5(VPS13B):c.3445+7_3445+9dup rs1335342521
NM_152564.5(VPS13B):c.3446-10C>T rs1588410843
NM_152564.5(VPS13B):c.3446-11C>A rs749898086
NM_152564.5(VPS13B):c.3446-11C>T rs749898086
NM_152564.5(VPS13B):c.3446-12C>G rs2490280751
NM_152564.5(VPS13B):c.3446-17T>G rs2490280738
NM_152564.5(VPS13B):c.3446-19C>T rs2133510590
NM_152564.5(VPS13B):c.3446-1G>A rs2490280894
NM_152564.5(VPS13B):c.3446-23T>G rs2133510569
NM_152564.5(VPS13B):c.3446-382_3463del rs1588410519
NM_152564.5(VPS13B):c.3446-6T>A rs371720857
NM_152564.5(VPS13B):c.3446-7A>G rs1286759524
NM_152564.5(VPS13B):c.3446-8T>C rs2133510634
NM_152564.5(VPS13B):c.3446-9C>T rs1429693242
NM_152564.5(VPS13B):c.3450T>C (p.Asp1150=) rs1382353814
NM_152564.5(VPS13B):c.3461G>A (p.Trp1154Ter) rs2133510708
NM_152564.5(VPS13B):c.3470G>T (p.Ser1157Ile) rs748600714
NM_152564.5(VPS13B):c.3482T>G (p.Phe1161Cys) rs1563746308
NM_152564.5(VPS13B):c.3489A>G (p.Ile1163Met) rs1819168429
NM_152564.5(VPS13B):c.3492_3493dup (p.Thr1165fs) rs2133510772
NM_152564.5(VPS13B):c.3496del (p.Leu1166fs) rs2490281130
NM_152564.5(VPS13B):c.3501_3502insAA (p.Gly1168fs) rs2490281178
NM_152564.5(VPS13B):c.3502G>A (p.Gly1168Arg)
NM_152564.5(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys) rs1554806874
NM_152564.5(VPS13B):c.3504A>G (p.Gly1168=) rs2133510852
NM_152564.5(VPS13B):c.3516A>C (p.Thr1172=) rs118158347
NM_152564.5(VPS13B):c.351A>G (p.Lys117=) rs2488605082
NM_152564.5(VPS13B):c.3521G>A (p.Cys1174Tyr) rs1819171069
NM_152564.5(VPS13B):c.3522C>A (p.Cys1174Ter) rs772078846
NM_152564.5(VPS13B):c.3535A>T (p.Met1179Leu) rs764040349
NM_152564.5(VPS13B):c.3536T>G (p.Met1179Arg) rs2490281483
NM_152564.5(VPS13B):c.3538G>A (p.Gly1180Ser) rs995313030
NM_152564.5(VPS13B):c.3546C>G (p.Thr1182=) rs2133511066
NM_152564.5(VPS13B):c.3546C>T (p.Thr1182=) rs2133511066
NM_152564.5(VPS13B):c.3549C>T (p.Ser1183=)
NM_152564.5(VPS13B):c.3551C>G (p.Thr1184Ser) rs2133511087
NM_152564.5(VPS13B):c.3554_3555dup (p.Ala1186Ter) rs1819174200
NM_152564.5(VPS13B):c.3561C>G (p.Val1187=) rs2490281651
NM_152564.5(VPS13B):c.3564G>T (p.Thr1188=) rs140905518
NM_152564.5(VPS13B):c.3565T>A (p.Ser1189Thr)
NM_152564.5(VPS13B):c.3570A>G (p.Gln1190=) rs1489420306
NM_152564.5(VPS13B):c.3573A>G (p.Lys1191=) rs962153891
NM_152564.5(VPS13B):c.3578T>C (p.Leu1193Pro) rs1160968830
NM_152564.5(VPS13B):c.3578T>G (p.Leu1193Arg) rs1160968830
NM_152564.5(VPS13B):c.3579del (p.Ala1194fs) rs2490281771
NM_152564.5(VPS13B):c.3585G>A (p.Thr1195=) rs749614140
NM_152564.5(VPS13B):c.3585G>T (p.Thr1195=) rs749614140
NM_152564.5(VPS13B):c.3587G>T (p.Gly1196Val) rs2133511258
NM_152564.5(VPS13B):c.3587dup (p.Pro1197fs)
NM_152564.5(VPS13B):c.3588A>G (p.Gly1196=) rs2490281826
NM_152564.5(VPS13B):c.3591T>A (p.Pro1197=) rs757694221
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>A (p.Cys1206Ter) rs386834081
NM_152564.5(VPS13B):c.3618T>C (p.Cys1206=) rs386834081
NM_152564.5(VPS13B):c.3630C>T (p.Asp1210=) rs2490282020
NM_152564.5(VPS13B):c.3639A>G (p.Ser1213=) rs2490282063
NM_152564.5(VPS13B):c.363A>T (p.Lys121Asn) rs2488605169
NM_152564.5(VPS13B):c.3645G>A (p.Glu1215=) rs751086826
NM_152564.5(VPS13B):c.3650A>T (p.Lys1217Ile) rs138000928
NM_152564.5(VPS13B):c.3653G>T (p.Cys1218Phe) rs1337261718
NM_152564.5(VPS13B):c.3656C>T (p.Ser1219Phe)
NM_152564.5(VPS13B):c.3657T>C (p.Ser1219=) rs2490282236
NM_152564.5(VPS13B):c.3660T>C (p.Asn1220=) rs2133511479
NM_152564.5(VPS13B):c.3662C>T (p.Pro1221Leu) rs757707584
NM_152564.5(VPS13B):c.3663C>A (p.Pro1221=) rs750806927
NM_152564.5(VPS13B):c.3663C>T (p.Pro1221=) rs750806927
NM_152564.5(VPS13B):c.3664C>T (p.Gln1222Ter) rs2133511511
NM_152564.5(VPS13B):c.3666+13G>T rs1311437131
NM_152564.5(VPS13B):c.3666+1G>T rs1554807146
NM_152564.5(VPS13B):c.3666+2T>A rs386834082
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_152564.5(VPS13B):c.3666+8C>T rs2490282421
NM_152564.5(VPS13B):c.3666+9A>C rs2490282432
NM_152564.5(VPS13B):c.3667-10A>G rs762331645
NM_152564.5(VPS13B):c.3667-13_3667-11del rs2490354006
NM_152564.5(VPS13B):c.3667-14dup rs2490353959
NM_152564.5(VPS13B):c.3667-16T>C rs1820041101
NM_152564.5(VPS13B):c.3667-5C>G rs886062540
NM_152564.5(VPS13B):c.3667-5C>T rs886062540
NM_152564.5(VPS13B):c.3667-9T>C
NM_152564.5(VPS13B):c.3669C>G (p.Val1223=) rs143905569
NM_152564.5(VPS13B):c.3674T>G (p.Leu1225Arg) rs2490354204
NM_152564.5(VPS13B):c.3678C>T (p.Phe1226=)
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter) rs1554814266
NM_152564.5(VPS13B):c.3682G>T (p.Glu1228Ter) rs2490354235
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs) rs1554814271
NM_152564.5(VPS13B):c.3691G>T (p.Asp1231Tyr) rs2133556147
NM_152564.5(VPS13B):c.3697A>G (p.Met1233Val) rs1230544969
NM_152564.5(VPS13B):c.36C>T (p.Ser12=) rs2488083745
NM_152564.5(VPS13B):c.3701del (p.Asn1234fs) rs1820043726
NM_152564.5(VPS13B):c.3705G>A (p.Lys1235=) rs748228139
NM_152564.5(VPS13B):c.3719T>C (p.Ile1240Thr) rs2490354397
NM_152564.5(VPS13B):c.3723G>A (p.Gln1241=) rs2490354407
NM_152564.5(VPS13B):c.3726G>A (p.Lys1242=) rs2490354435
NM_152564.5(VPS13B):c.372A>G (p.Arg124=) rs752604752
NM_152564.5(VPS13B):c.3734A>G (p.Asn1245Ser) rs949766937
NM_152564.5(VPS13B):c.3738C>G (p.Leu1246=) rs1465822174
NM_152564.5(VPS13B):c.3738C>T (p.Leu1246=)
NM_152564.5(VPS13B):c.3746C>G (p.Ser1249Cys) rs2490354534
NM_152564.5(VPS13B):c.3751A>C (p.Thr1251Pro) rs184693266
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_152564.5(VPS13B):c.3753C>T (p.Thr1251=) rs2490354591
NM_152564.5(VPS13B):c.3759A>G (p.Pro1253=) rs766690954
NM_152564.5(VPS13B):c.3765C>T (p.Thr1255=) rs2490354640
NM_152564.5(VPS13B):c.3767T>G (p.Met1256Arg) rs1563753648
NM_152564.5(VPS13B):c.3768G>A (p.Met1256Ile) rs1820047097
NM_152564.5(VPS13B):c.3769G>C (p.Ala1257Pro) rs1437011084
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter) rs1057516422
NM_152564.5(VPS13B):c.3771A>G (p.Ala1257=) rs2133556390
NM_152564.5(VPS13B):c.3773G>A (p.Gly1258Glu) rs1052184770
NM_152564.5(VPS13B):c.3774G>T (p.Gly1258=) rs867311125
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3789T>C (p.Ser1263=) rs2490354779
NM_152564.5(VPS13B):c.3792A>G (p.Pro1264=) rs778016570
NM_152564.5(VPS13B):c.3799A>C (p.Ser1267Arg) rs749167191
NM_152564.5(VPS13B):c.3802A>T (p.Ser1268Cys) rs1820049229
NM_152564.5(VPS13B):c.380A>G (p.Gln127Arg) rs2132431749
NM_152564.5(VPS13B):c.3816T>A (p.Ala1272=) rs1459993478
NM_152564.5(VPS13B):c.3816T>C (p.Ala1272=) rs1459993478
NM_152564.5(VPS13B):c.3816T>G (p.Ala1272=) rs1459993478
NM_152564.5(VPS13B):c.3820C>A (p.Pro1274Thr) rs2490354952
NM_152564.5(VPS13B):c.3822A>G (p.Pro1274=) rs2133556522
NM_152564.5(VPS13B):c.3828C>T (p.Thr1276=) rs2133556534
NM_152564.5(VPS13B):c.382G>A (p.Ala128Thr) rs763964256
NM_152564.5(VPS13B):c.3831C>T (p.Ser1277=) rs1183777904
NM_152564.5(VPS13B):c.3832A>C (p.Thr1278Pro) rs1820050200
NM_152564.5(VPS13B):c.3839G>T (p.Ser1280Ile) rs1441125749
NM_152564.5(VPS13B):c.3852C>T (p.Asp1284=) rs2490355195
NM_152564.5(VPS13B):c.3858G>A (p.Gly1286=) rs2490355240
NM_152564.5(VPS13B):c.3860C>G (p.Thr1287Ser) rs966120122
NM_152564.5(VPS13B):c.3861T>G (p.Thr1287=) rs2133556617
NM_152564.5(VPS13B):c.3862A>G (p.Thr1288Ala) rs1820051985
NM_152564.5(VPS13B):c.3870+17A>C
NM_152564.5(VPS13B):c.3870+18dup rs2490355415
NM_152564.5(VPS13B):c.3870+1G>A rs764225649
NM_152564.5(VPS13B):c.3870+20C>G rs569308241
NM_152564.5(VPS13B):c.3871-10C>T rs1210475186
NM_152564.5(VPS13B):c.3871-11C>A rs1484867107
NM_152564.5(VPS13B):c.3871-11C>G rs1484867107
NM_152564.5(VPS13B):c.3871-12T>C rs2490447617
NM_152564.5(VPS13B):c.3871-13dup rs2490447600
NM_152564.5(VPS13B):c.3871-5C>A rs2490447702
NM_152564.5(VPS13B):c.3871-7A>G rs1425649545
NM_152564.5(VPS13B):c.3871G>A (p.Gly1291Arg) rs1821241143
NM_152564.5(VPS13B):c.3881_3882del (p.Ile1294fs) rs2133609624
NM_152564.5(VPS13B):c.3882A>G (p.Ile1294Met) rs957432577
NM_152564.5(VPS13B):c.3891T>A (p.Gly1297=) rs1402449887
NM_152564.5(VPS13B):c.3891T>G (p.Gly1297=) rs1402449887
NM_152564.5(VPS13B):c.3893A>T (p.Glu1298Val)
NM_152564.5(VPS13B):c.3900A>G (p.Ser1300=) rs2133609681
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.3903A>G (p.Pro1301=) rs965046131
NM_152564.5(VPS13B):c.3909A>G (p.Ser1303=) rs779666289
NM_152564.5(VPS13B):c.3937A>C (p.Ser1313Arg) rs2490448298
NM_152564.5(VPS13B):c.3938G>A (p.Ser1313Asn) rs2490448311
NM_152564.5(VPS13B):c.3957T>A (p.Ser1319Arg) rs1821244952
NM_152564.5(VPS13B):c.3959G>A (p.Gly1320Glu) rs1391895416
NM_152564.5(VPS13B):c.3960A>G (p.Gly1320=) rs1821245153
NM_152564.5(VPS13B):c.3972A>G (p.Leu1324=) rs2490448541
NM_152564.5(VPS13B):c.3974G>A (p.Trp1325Ter) rs2133609831
NM_152564.5(VPS13B):c.3975G>A (p.Trp1325Ter)
NM_152564.5(VPS13B):c.3981G>A (p.Gln1327=) rs1588442639
NM_152564.5(VPS13B):c.3987G>A (p.Val1329=) rs2490448622
NM_152564.5(VPS13B):c.3993C>G (p.Pro1331=) rs2490448665
NM_152564.5(VPS13B):c.3999del (p.Thr1334fs) rs2490448712
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile) rs1060499779
NM_152564.5(VPS13B):c.4006_4007insTT (p.Lys1336fs) rs2490448759
NM_152564.5(VPS13B):c.4023T>C (p.Asp1341=) rs2490448809
NM_152564.5(VPS13B):c.4024C>A (p.Pro1342Thr)
NM_152564.5(VPS13B):c.4026T>C (p.Pro1342=) rs2490448829
NM_152564.5(VPS13B):c.4032T>G (p.Asn1344Lys) rs1821248002
NM_152564.5(VPS13B):c.4038C>T (p.Gly1346=) rs1821248178
NM_152564.5(VPS13B):c.4042+11C>G rs2490449062
NM_152564.5(VPS13B):c.4042+15T>C rs2133609969
NM_152564.5(VPS13B):c.4042+20_4042+23del rs1821248943
NM_152564.5(VPS13B):c.4042+2T>C rs1554822819
NM_152564.5(VPS13B):c.4042+7G>C
NM_152564.5(VPS13B):c.4043-18G>A
NM_152564.5(VPS13B):c.4043-20C>T rs2133613242
NM_152564.5(VPS13B):c.4043-9T>C rs2490459061
NM_152564.5(VPS13B):c.4047T>G (p.Val1349=) rs1004879836
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_152564.5(VPS13B):c.4050_4053del (p.Cys1350fs) rs1821315647
NM_152564.5(VPS13B):c.4053G>C (p.Met1351Ile) rs1821315903
NM_152564.5(VPS13B):c.4056C>T (p.Val1352=) rs2490459200
NM_152564.5(VPS13B):c.405A>G (p.Leu135=) rs2132431834
NM_152564.5(VPS13B):c.4060G>A (p.Glu1354Lys) rs2133613311
NM_152564.5(VPS13B):c.4065A>G (p.Leu1355=) rs755818465
NM_152564.5(VPS13B):c.4076G>A (p.Ser1359Asn) rs1821316658
NM_152564.5(VPS13B):c.4077T>C (p.Ser1359=) rs748881375
NM_152564.5(VPS13B):c.4079C>T (p.Ala1360Val) rs1346853825
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.4082C>G (p.Ser1361Cys)
NM_152564.5(VPS13B):c.4083C>T (p.Ser1361=) rs1821317104
NM_152564.5(VPS13B):c.4084A>G (p.Ile1362Val) rs1230385293
NM_152564.5(VPS13B):c.4096dup (p.Asp1366fs)
NM_152564.5(VPS13B):c.4108A>T (p.Lys1370Ter)
NM_152564.5(VPS13B):c.4113G>A (p.Val1371=) rs769085208
NM_152564.5(VPS13B):c.4113G>T (p.Val1371=) rs769085208
NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter) rs2490459662
NM_152564.5(VPS13B):c.412+14G>A
NM_152564.5(VPS13B):c.412+1G>A rs1057517295
NM_152564.5(VPS13B):c.412+1G>C rs1057517295
NM_152564.5(VPS13B):c.412+1G>T rs1057517295
NM_152564.5(VPS13B):c.412+20A>G rs2488605682
NM_152564.5(VPS13B):c.412+2T>C rs746521429
NM_152564.5(VPS13B):c.413-10T>C rs897984303
NM_152564.5(VPS13B):c.413-12del rs771680065
NM_152564.5(VPS13B):c.413-12dup rs771680065
NM_152564.5(VPS13B):c.413-18T>C rs2488636626
NM_152564.5(VPS13B):c.413-19C>A rs757067778
NM_152564.5(VPS13B):c.413-19_413-18del rs2488636598
NM_152564.5(VPS13B):c.413-19del rs2488636614
NM_152564.5(VPS13B):c.413-2A>G rs2132453775
NM_152564.5(VPS13B):c.413-5T>C rs1846839473
NM_152564.5(VPS13B):c.413-9A>G rs2132453724
NM_152564.5(VPS13B):c.4130G>T (p.Ser1377Ile) rs2133613470
NM_152564.5(VPS13B):c.4136A>G (p.Asn1379Ser) rs1415035849
NM_152564.5(VPS13B):c.4137T>C (p.Asn1379=) rs1821319108
NM_152564.5(VPS13B):c.4141G>A (p.Asp1381Asn)
NM_152564.5(VPS13B):c.4147T>C (p.Tyr1383His) rs2490459888
NM_152564.5(VPS13B):c.4151G>T (p.Arg1384Ile) rs2490459918
NM_152564.5(VPS13B):c.4153A>G (p.Ser1385Gly) rs2490459929
NM_152564.5(VPS13B):c.4157+15A>C rs1203423515
NM_152564.5(VPS13B):c.4157+15A>G rs1203423515
NM_152564.5(VPS13B):c.4157+15_4157+21del rs1480852109
NM_152564.5(VPS13B):c.4157+2T>G rs2490459959
NM_152564.5(VPS13B):c.4157+9T>C rs2490460135
NM_152564.5(VPS13B):c.4158-16A>C rs1554824637
NM_152564.5(VPS13B):c.4158G>A (p.Arg1386=) rs1554824647
NM_152564.5(VPS13B):c.4159C>A (p.Pro1387Thr) rs1554824649
NM_152564.5(VPS13B):c.4196T>C (p.Val1399Ala) rs1554824675
NM_152564.5(VPS13B):c.420G>A (p.Val140=) rs1379154568
NM_152564.5(VPS13B):c.420G>T (p.Val140=) rs1379154568
NM_152564.5(VPS13B):c.4218_4222dup (p.Val1408fs) rs1554824678
NM_152564.5(VPS13B):c.4224+1G>C rs376982982
NM_152564.5(VPS13B):c.4224+562T>C
NM_152564.5(VPS13B):c.4224+563C>G
NM_152564.5(VPS13B):c.4224+664A>G rs1821583064
NM_152564.5(VPS13B):c.4224+713G>T rs1648101337
NM_152564.5(VPS13B):c.4224+715A>C rs2490498011
NM_152564.5(VPS13B):c.4224+716A>G rs2490498040
NM_152564.5(VPS13B):c.4224+719A>G rs2490498074
NM_152564.5(VPS13B):c.4224+720C>T rs2490498092
NM_152564.5(VPS13B):c.4224+725A>T rs1554825046
NM_152564.5(VPS13B):c.4225-1G>A rs2133637043
NM_152564.5(VPS13B):c.4225-9T>C rs2490520264
NM_152564.5(VPS13B):c.4230T>C (p.Thr1410=) rs2490520419
NM_152564.5(VPS13B):c.423G>A (p.Gln141=) rs746463050
NM_152564.5(VPS13B):c.4241T>C (p.Leu1414Pro) rs2490520508
NM_152564.5(VPS13B):c.4248C>T (p.Gly1416=) rs202048397
NM_152564.5(VPS13B):c.424A>G (p.Ser142Gly) rs2132453819
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4262A>T (p.His1421Leu) rs371961155
NM_152564.5(VPS13B):c.4267_4273del (p.Phe1423fs) rs2490520787
NM_152564.5(VPS13B):c.4272C>A (p.Leu1424=) rs1821771347
NM_152564.5(VPS13B):c.4276C>T (p.Leu1426=) rs759038095
NM_152564.5(VPS13B):c.4278G>A (p.Leu1426=) rs2133637215
NM_152564.5(VPS13B):c.4281A>G (p.Thr1427=) rs2133637227
NM_152564.5(VPS13B):c.4282T>C (p.Tyr1428His) rs2133637231
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs) rs2133637251
NM_152564.5(VPS13B):c.428del (p.Leu143fs)
NM_152564.5(VPS13B):c.4293T>G (p.Ala1431=) rs777067859
NM_152564.5(VPS13B):c.4296A>G (p.Val1432=) rs2490521010
NM_152564.5(VPS13B):c.4302A>G (p.Lys1434=) rs2490521065
NM_152564.5(VPS13B):c.4302_4304dup (p.Lys1434dup) rs1297058561
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs) rs1297058561
NM_152564.5(VPS13B):c.4305T>C (p.Asn1435=) rs2133637292
NM_152564.5(VPS13B):c.4310G>T (p.Arg1437Leu) rs750810791
NM_152564.5(VPS13B):c.4317G>A (p.Lys1439=) rs2490521188
NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter) rs2490521200
NM_152564.5(VPS13B):c.4320A>G (p.Leu1440=) rs2133637329
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs) rs386834085
NM_152564.5(VPS13B):c.4334A>T (p.Glu1445Val) rs2133637370
NM_152564.5(VPS13B):c.4335G>A (p.Glu1445=) rs781336187
NM_152564.5(VPS13B):c.4336C>A (p.Arg1446=) rs386834086
NM_152564.5(VPS13B):c.4341_4342insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATGAGCGAAGA (p.Ser1448delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysTer)
NM_152564.5(VPS13B):c.4348C>T (p.His1450Tyr) rs770616277
NM_152564.5(VPS13B):c.4359T>C (p.Ser1453=) rs1187402533
NM_152564.5(VPS13B):c.4362A>T (p.Glu1454Asp) 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.4377T>G (p.Gly1459=)
NM_152564.5(VPS13B):c.4379CTC[1] (p.Pro1461del) rs2490521732
NM_152564.5(VPS13B):c.4381C>T (p.Pro1461Ser) rs2490521745
NM_152564.5(VPS13B):c.4385A>G (p.His1462Arg) rs1267695807
NM_152564.5(VPS13B):c.4389T>C (p.Phe1463=) rs766779948
NM_152564.5(VPS13B):c.438A>G (p.Arg146=) rs2488636926
NM_152564.5(VPS13B):c.4394A>T (p.His1465Leu) rs1588450228
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs) rs386834087
NM_152564.5(VPS13B):c.4401T>C (p.Ile1467=) rs2490521861
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del) rs386834088
NM_152564.5(VPS13B):c.4413A>G (p.Ala1471=) rs1563769041
NM_152564.5(VPS13B):c.4413del (p.Gln1472fs) rs2490521936
NM_152564.5(VPS13B):c.4420T>G (p.Phe1474Val) rs1821776603
NM_152564.5(VPS13B):c.4424_4429del (p.Asp1475_Ile1476del) rs1554826499
NM_152564.5(VPS13B):c.4434T>C (p.Leu1478=) rs2490522025
NM_152564.5(VPS13B):c.4440T>C (p.Phe1480=) rs2490522061
NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter) rs2490522077
NM_152564.5(VPS13B):c.4446A>G (p.Leu1482=) rs2133637669
NM_152564.5(VPS13B):c.4447C>G (p.Leu1483Val)
NM_152564.5(VPS13B):c.4464T>C (p.Ser1488=) rs2133637727
NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter) rs2490522246
NM_152564.5(VPS13B):c.4485A>G (p.Pro1495=) rs2490522323
NM_152564.5(VPS13B):c.4489A>G (p.Thr1497Ala) rs1374233787
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs) rs386834089
NM_152564.5(VPS13B):c.4508A>G (p.Lys1503Arg) rs1306207234
NM_152564.5(VPS13B):c.4509A>G (p.Lys1503=) rs2490522435
NM_152564.5(VPS13B):c.4512T>C (p.Ser1504=) rs2490522451
NM_152564.5(VPS13B):c.4514C>T (p.Pro1505Leu) rs1821779357
NM_152564.5(VPS13B):c.4518T>G (p.Gly1506=) rs1821779613
NM_152564.5(VPS13B):c.4519C>A (p.Gln1507Lys) rs1178400279
NM_152564.5(VPS13B):c.451G>A (p.Val151Ile) rs772244398
NM_152564.5(VPS13B):c.4522C>T (p.Pro1508Ser)
NM_152564.5(VPS13B):c.4526T>C (p.Met1509Thr) rs2490522591
NM_152564.5(VPS13B):c.4528A>C (p.Arg1510=) rs2490522618
NM_152564.5(VPS13B):c.4529_4535dup (p.His1512fs) rs2133637853
NM_152564.5(VPS13B):c.4530G>A (p.Arg1510=) rs2133637865
NM_152564.5(VPS13B):c.4533C>T (p.Thr1511=) rs2133637873
NM_152564.5(VPS13B):c.4535A>G (p.His1512Arg) rs1821780332
NM_152564.5(VPS13B):c.4536T>C (p.His1512=) rs2133637886
NM_152564.5(VPS13B):c.4539A>G (p.Thr1513=) rs1821780606
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.453A>T (p.Val151=)
NM_152564.5(VPS13B):c.4540C>T (p.Leu1514=) rs1821780700
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs) rs1057518939
NM_152564.5(VPS13B):c.4548C>A (p.Ser1516=) rs1821781006
NM_152564.5(VPS13B):c.4548C>T (p.Ser1516=) rs1821781006
NM_152564.5(VPS13B):c.4551C>T (p.Arg1517=) rs150376603
NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter) rs1315598070
NM_152564.5(VPS13B):c.4558C>T (p.Pro1520Ser) rs1821781864
NM_152564.5(VPS13B):c.4560T>C (p.Pro1520=) rs2133638000
NM_152564.5(VPS13B):c.4569T>C (p.Tyr1523=) rs1361356353
NM_152564.5(VPS13B):c.456C>T (p.Asn152=) rs2488637031
NM_152564.5(VPS13B):c.4572C>T (p.Val1524=)
NM_152564.5(VPS13B):c.4584A>G (p.Val1528=) rs1443868978
NM_152564.5(VPS13B):c.4596T>G (p.Phe1532Leu) rs1198827619
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs) rs1554826615
NM_152564.5(VPS13B):c.4615A>G (p.Met1539Val) rs2133638135
NM_152564.5(VPS13B):c.4616T>C (p.Met1539Thr) rs1821784819
NM_152564.5(VPS13B):c.4618C>T (p.Gln1540Ter)
NM_152564.5(VPS13B):c.4620G>A (p.Gln1540=) rs2490523300
NM_152564.5(VPS13B):c.4628T>C (p.Val1543Ala) rs2490523347
NM_152564.5(VPS13B):c.4633+13G>T rs771515364
NM_152564.5(VPS13B):c.4633+14A>T rs763556763
NM_152564.5(VPS13B):c.4633+1G>A rs1337363590
NM_152564.5(VPS13B):c.4633+1G>C
NM_152564.5(VPS13B):c.4633+1G>T
NM_152564.5(VPS13B):c.4633+22del rs756149542
NM_152564.5(VPS13B):c.4633+22dup rs756149542
NM_152564.5(VPS13B):c.4633+7T>A rs1821787119
NM_152564.5(VPS13B):c.4633+7T>G rs1821787119
NM_152564.5(VPS13B):c.4634-10T>C rs2133668051
NM_152564.5(VPS13B):c.4634-18del rs2133668025
NM_152564.5(VPS13B):c.4634-2A>G rs2133668102
NM_152564.5(VPS13B):c.4634-9T>C rs2133668059
NM_152564.5(VPS13B):c.4634C>G (p.Ala1545Gly) rs1319725217
NM_152564.5(VPS13B):c.4640A>G (p.Gln1547Arg) rs2133668123
NM_152564.5(VPS13B):c.4641G>A (p.Gln1547=) rs1822351153
NM_152564.5(VPS13B):c.4647A>G (p.Ala1549=) rs1822351966
NM_152564.5(VPS13B):c.4647A>T (p.Ala1549=) rs1822351966
NM_152564.5(VPS13B):c.4651G>T (p.Glu1551Ter) rs2490585434
NM_152564.5(VPS13B):c.4665T>G (p.Val1555=) rs1822352500
NM_152564.5(VPS13B):c.4671G>A (p.Lys1557=) rs2490585572
NM_152564.5(VPS13B):c.4674T>C (p.Ile1558=) rs2133668264
NM_152564.5(VPS13B):c.4677C>T (p.Gly1559=) rs1822353841
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val) rs886062541
NM_152564.5(VPS13B):c.468_471del (p.Asn157fs) rs1588038825
NM_152564.5(VPS13B):c.4690G>C (p.Ala1564Pro) rs2490585784
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=) rs1246413036
NM_152564.5(VPS13B):c.4701T>G (p.Ala1567=) rs2490585866
NM_152564.5(VPS13B):c.4704C>T (p.Asp1568=) rs1030235559
NM_152564.5(VPS13B):c.4707T>C (p.Asn1569=) rs2490585917
NM_152564.5(VPS13B):c.4708C>G (p.Pro1570Ala) rs1822354960
NM_152564.5(VPS13B):c.4717A>T (p.Arg1573Ter) rs1822355402
NM_152564.5(VPS13B):c.4723G>A (p.Val1575Ile) rs1472281064
NM_152564.5(VPS13B):c.4728T>C (p.Leu1576=) rs1158360713
NM_152564.5(VPS13B):c.4730G>T (p.Arg1577Met) rs1563774096
NM_152564.5(VPS13B):c.4740T>C (p.Ile1580=) rs1402302415
NM_152564.5(VPS13B):c.4745+10T>C rs2490586215
NM_152564.5(VPS13B):c.4745+18T>A rs2490586271
NM_152564.5(VPS13B):c.4745+18T>C rs2490586271
NM_152564.5(VPS13B):c.4745+19G>C
NM_152564.5(VPS13B):c.4745+1G>C rs1469729130
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4745+7T>G rs1349036555
NM_152564.5(VPS13B):c.4745+9A>G rs2490586200
NM_152564.5(VPS13B):c.4746-13G>A rs561446691
NM_152564.5(VPS13B):c.4746-17T>A rs753224515
NM_152564.5(VPS13B):c.4746-18T>C rs778023118
NM_152564.5(VPS13B):c.4746-1G>T rs768342041
NM_152564.5(VPS13B):c.4746-2A>T rs1554843814
NM_152564.5(VPS13B):c.4749A>C (p.Arg1583Ser) rs1824571515
NM_152564.5(VPS13B):c.4755G>A (p.Leu1585=) rs2490789057
NM_152564.5(VPS13B):c.4756A>C (p.Asn1586His) rs1824571709
NM_152564.5(VPS13B):c.4758C>T (p.Asn1586=) rs1452358488
NM_152564.5(VPS13B):c.4761A>G (p.Leu1587=) rs2490789099
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.4782A>T (p.Gly1594=) rs2133764676
NM_152564.5(VPS13B):c.478_481del (p.Leu160fs)
NM_152564.5(VPS13B):c.4791C>A (p.Ile1597=) rs543837370
NM_152564.5(VPS13B):c.4801C>G (p.Gln1601Glu) rs1241114776
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter) rs180177359
NM_152564.5(VPS13B):c.4806C>T (p.Tyr1602=) rs1355209169
NM_152564.5(VPS13B):c.4807C>T (p.Gln1603Ter) rs2133764725
NM_152564.5(VPS13B):c.480A>G (p.Leu160=) rs2488637177
NM_152564.5(VPS13B):c.4812A>C (p.Ile1604=) rs1824574633
NM_152564.5(VPS13B):c.4812del (p.Ile1604fs)
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter) rs1588491546
NM_152564.5(VPS13B):c.4821G>A (p.Gln1607=) rs757495847
NM_152564.5(VPS13B):c.4827C>T (p.Ile1609=) rs2133764753
NM_152564.5(VPS13B):c.4830T>C (p.Asn1610=) rs1824575375
NM_152564.5(VPS13B):c.4831A>G (p.Ile1611Val) rs1824575477
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn) rs2490789575
NM_152564.5(VPS13B):c.4836T>C (p.Gly1612=) rs2133764786
NM_152564.5(VPS13B):c.4837A>G (p.Thr1613Ala) rs2490789623
NM_152564.5(VPS13B):c.483del (p.Lys161fs) rs2132453991
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys) rs180177360
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.4862C>T (p.Pro1621Leu) rs1824576572
NM_152564.5(VPS13B):c.4866G>A (p.Glu1622=) rs779914034
NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter) rs2490789747
NM_152564.5(VPS13B):c.4868A>C (p.Lys1623Thr) rs1824576911
NM_152564.5(VPS13B):c.4868A>T (p.Lys1623Met) rs1824576911
NM_152564.5(VPS13B):c.4870G>A (p.Glu1624Lys) rs1257281144
NM_152564.5(VPS13B):c.4871A>G (p.Glu1624Gly) rs1384634797
NM_152564.5(VPS13B):c.4872A>G (p.Glu1624=) rs2490789783
NM_152564.5(VPS13B):c.4874G>T (p.Ser1625Ile) rs1014154776
NM_152564.5(VPS13B):c.4875T>C (p.Ser1625=) rs1824577833
NM_152564.5(VPS13B):c.4876_4877del (p.Val1626fs) rs1588491595
NM_152564.5(VPS13B):c.4878C>T (p.Val1626=) rs1294342896
NM_152564.5(VPS13B):c.4885G>C (p.Gly1629Arg) rs776600965
NM_152564.5(VPS13B):c.4886G>C (p.Gly1629Ala) rs1824579612
NM_152564.5(VPS13B):c.4887G>A (p.Gly1629=) rs747778744
NM_152564.5(VPS13B):c.4887G>T (p.Gly1629=) rs747778744
NM_152564.5(VPS13B):c.4891G>A (p.Val1631Ile) rs1824580603
NM_152564.5(VPS13B):c.4893A>G (p.Val1631=) rs762427082
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs) rs1554843942
NM_152564.5(VPS13B):c.4895C>T (p.Thr1632Ile) rs2133764957
NM_152564.5(VPS13B):c.4903G>T (p.Glu1635Ter) rs2490790026
NM_152564.5(VPS13B):c.4926C>G (p.Ala1642=) rs2490790114
NM_152564.5(VPS13B):c.4929T>C (p.Leu1643=) rs1053341337
NM_152564.5(VPS13B):c.4934G>A (p.Trp1645Ter) rs2490790158
NM_152564.5(VPS13B):c.4944C>T (p.Ala1648=) rs2490790186
NM_152564.5(VPS13B):c.4946_4947delinsAA (p.Ser1649Lys) rs1824583703
NM_152564.5(VPS13B):c.4947C>T (p.Ser1649=) rs985853073
NM_152564.5(VPS13B):c.4949+10G>T rs1824585165
NM_152564.5(VPS13B):c.4949+2T>G rs761273297
NM_152564.5(VPS13B):c.4949+3A>T rs1824584392
NM_152564.5(VPS13B):c.4950-10T>C
NM_152564.5(VPS13B):c.4950-10_4950-9insG rs2490899522
NM_152564.5(VPS13B):c.4950-12T>C
NM_152564.5(VPS13B):c.4950-1G>C rs1554852945
NM_152564.5(VPS13B):c.4950-20T>C rs201360034
NM_152564.5(VPS13B):c.4950-2A>G rs2490899613
NM_152564.5(VPS13B):c.4950-2dup rs1554852944
NM_152564.5(VPS13B):c.4950-9A>C
NM_152564.5(VPS13B):c.4959G>T (p.Arg1653=) rs182877520
NM_152564.5(VPS13B):c.4959del (p.His1654fs) rs1166814614
NM_152564.5(VPS13B):c.4968A>G (p.Glu1656=) rs2133808425
NM_152564.5(VPS13B):c.4970G>A (p.Arg1657Lys) rs903367949
NM_152564.5(VPS13B):c.4971_4973del (p.Arg1658del) rs770497996
NM_152564.5(VPS13B):c.4974A>G (p.Arg1658=) rs2133808450
NM_152564.5(VPS13B):c.4989C>G (p.Pro1663=) rs142380266
NM_152564.5(VPS13B):c.4989C>T (p.Pro1663=) rs142380266
NM_152564.5(VPS13B):c.4989dup (p.Val1664fs)
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs) rs2133808512
NM_152564.5(VPS13B):c.5001T>C (p.Asp1667=) rs527950476
NM_152564.5(VPS13B):c.5010C>T (p.Val1670=) rs2133808532
NM_152564.5(VPS13B):c.5022A>G (p.Gly1674=) rs1270977455
NM_152564.5(VPS13B):c.5024C>T (p.Ala1675Val) rs1437272831
NM_152564.5(VPS13B):c.5025A>G (p.Ala1675=) rs2133808577
NM_152564.5(VPS13B):c.5043C>T (p.Thr1681=) rs2490900193
NM_152564.5(VPS13B):c.504C>A (p.Val168=) rs1417733025
NM_152564.5(VPS13B):c.504C>T (p.Val168=) rs1417733025
NM_152564.5(VPS13B):c.5052T>C (p.Val1684=) rs2490900245
NM_152564.5(VPS13B):c.505C>T (p.Leu169Phe) rs376498106
NM_152564.5(VPS13B):c.5064T>A (p.Asn1688Lys) rs1330191619
NM_152564.5(VPS13B):c.5065T>A (p.Leu1689Met) rs192416968
NM_152564.5(VPS13B):c.5075A>G (p.Glu1692Gly) rs1588510428
NM_152564.5(VPS13B):c.5076+10T>C rs2133808701
NM_152564.5(VPS13B):c.5076+11A>C rs752638292
NM_152564.5(VPS13B):c.5076+12A>G rs2490900436
NM_152564.5(VPS13B):c.5076+13T>C rs2490900447
NM_152564.5(VPS13B):c.5076+17G>A
NM_152564.5(VPS13B):c.5076+1G>T rs1825747036
NM_152564.5(VPS13B):c.5076+20T>A rs2490900497
NM_152564.5(VPS13B):c.5076+20T>C rs2490900497
NM_152564.5(VPS13B):c.5076+22del rs2490900480
NM_152564.5(VPS13B):c.5076+3T>C rs2133808668
NM_152564.5(VPS13B):c.5076+8C>A rs2133808689
NM_152564.5(VPS13B):c.5077-12T>C rs2490909839
NM_152564.5(VPS13B):c.5077-18C>T rs2490909748
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG rs2490909368
NM_152564.5(VPS13B):c.5077-6C>G rs760501737
NM_152564.5(VPS13B):c.5077-6C>T rs760501737
NM_152564.5(VPS13B):c.5077-8del rs2490909850
NM_152564.5(VPS13B):c.507T>C (p.Leu169=) rs2488637309
NM_152564.5(VPS13B):c.5085A>G (p.Leu1695=) rs2490909919
NM_152564.5(VPS13B):c.5091_5092del (p.Cys1697fs) rs2490909925
NM_152564.5(VPS13B):c.5094C>A (p.Gly1698=) rs2133811965
NM_152564.5(VPS13B):c.5095C>T (p.His1699Tyr) rs765021203
NM_152564.5(VPS13B):c.5106A>G (p.Glu1702=) rs2490910045
NM_152564.5(VPS13B):c.5111A>G (p.Asn1704Ser) rs1825833646
NM_152564.5(VPS13B):c.5112T>C (p.Asn1704=) rs2490910056
NM_152564.5(VPS13B):c.5126T>C (p.Leu1709Pro) rs2133812014
NM_152564.5(VPS13B):c.5139A>C (p.Leu1713=) rs1825834876
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del) rs180177362
NM_152564.5(VPS13B):c.5145G>A (p.Val1715=) rs2490910273
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs) rs2133812056
NM_152564.5(VPS13B):c.5151A>G (p.Gln1717=) rs2490910327
NM_152564.5(VPS13B):c.5154T>C (p.Val1718=) rs1235245438
NM_152564.5(VPS13B):c.5154T>G (p.Val1718=) rs1235245438
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5160C>G (p.Leu1720=) rs2490910416
NM_152564.5(VPS13B):c.5163dup (p.His1722fs) rs2490910434
NM_152564.5(VPS13B):c.5167_5168delinsTC (p.Gln1723Ser) rs2490910493
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs) rs1554853676
NM_152564.5(VPS13B):c.516T>C (p.Asn172=) rs2488637379
NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer) rs1434257397
NM_152564.5(VPS13B):c.5184T>C (p.Asn1728=) rs2133812127
NM_152564.5(VPS13B):c.5185A>G (p.Met1729Val) rs1825837144
NM_152564.5(VPS13B):c.5190T>C (p.Thr1730=) rs1454613781
NM_152564.5(VPS13B):c.5192G>A (p.Gly1731Glu) rs1393333400
NM_152564.5(VPS13B):c.5195T>C (p.Leu1732Pro) rs1825837477
NM_152564.5(VPS13B):c.5196G>A (p.Leu1732=) rs750269923
NM_152564.5(VPS13B):c.5197del (p.Glu1733fs) rs2490910717
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs) rs2490910717
NM_152564.5(VPS13B):c.5199A>G (p.Glu1733=) rs2490910736
NM_152564.5(VPS13B):c.5210A>G (p.Lys1737Arg) rs766076850
NM_152564.5(VPS13B):c.5217A>C (p.Ala1739=)
NM_152564.5(VPS13B):c.5220+10A>G rs1221192419
NM_152564.5(VPS13B):c.5220+12C>T rs2490910986
NM_152564.5(VPS13B):c.5220+12del rs1825839372
NM_152564.5(VPS13B):c.5220+14dup rs1376069910
NM_152564.5(VPS13B):c.5220+16T>C
NM_152564.5(VPS13B):c.5220+16T>G rs1291914461
NM_152564.5(VPS13B):c.5220+18T>C rs1825839986
NM_152564.5(VPS13B):c.5220+20875C>A rs147771008
NM_152564.5(VPS13B):c.5221-13T>C rs2491205883
NM_152564.5(VPS13B):c.5221-15A>G rs2491205855
NM_152564.5(VPS13B):c.5221-15del rs2491205861
NM_152564.5(VPS13B):c.5221-17T>C rs2133931320
NM_152564.5(VPS13B):c.5221-18A>G rs2491205823
NM_152564.5(VPS13B):c.5221-20T>G rs2491205812
NM_152564.5(VPS13B):c.5221-20_5221-16del rs2491205762
NM_152564.5(VPS13B):c.5221-24871G>T rs944094510
NM_152564.5(VPS13B):c.5221-4A>G rs2133931355
NM_152564.5(VPS13B):c.5221-6T>C rs1829377717
NM_152564.5(VPS13B):c.5221-8dup rs2133931327
NM_152564.5(VPS13B):c.5223C>T (p.Ile1741=) rs144223843
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter) rs1554884575
NM_152564.5(VPS13B):c.5232A>G (p.Gln1744=) rs2491206004
NM_152564.5(VPS13B):c.5233G>A (p.Glu1745Lys) rs1279522825
NM_152564.5(VPS13B):c.5233G>C (p.Glu1745Gln) rs1279522825
NM_152564.5(VPS13B):c.5233G>T (p.Glu1745Ter) rs1279522825
NM_152564.5(VPS13B):c.5234A>G (p.Glu1745Gly) rs2491206017
NM_152564.5(VPS13B):c.5235A>G (p.Glu1745=) rs751179813
NM_152564.5(VPS13B):c.5244A>C (p.Lys1748Asn) rs1481251396
NM_152564.5(VPS13B):c.5244A>G (p.Lys1748=) rs1481251396
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter) rs386834094
NM_152564.5(VPS13B):c.5264G>C (p.Gly1755Ala) rs1426875703
NM_152564.5(VPS13B):c.5266A>G (p.Met1756Val) rs973340018
NM_152564.5(VPS13B):c.5277C>A (p.Thr1759=) rs920541973
NM_152564.5(VPS13B):c.5277C>G (p.Thr1759=) rs920541973
NM_152564.5(VPS13B):c.5277C>T (p.Thr1759=) rs920541973
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys) rs780314338
NM_152564.5(VPS13B):c.5289C>T (p.Tyr1763=) rs2491206253
NM_152564.5(VPS13B):c.5313T>A (p.Ile1771=) rs2491206309
NM_152564.5(VPS13B):c.531A>G (p.Glu177=)
NM_152564.5(VPS13B):c.5326G>T (p.Val1776Phe) rs547179338
NM_152564.5(VPS13B):c.5328T>C (p.Val1776=) rs2491206358
NM_152564.5(VPS13B):c.5331A>G (p.Lys1777=) rs2133931540
NM_152564.5(VPS13B):c.5342dup (p.Gln1782fs) rs1588579347
NM_152564.5(VPS13B):c.5347A>G (p.Ile1783Val) rs2133931572
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs) rs1829386213
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5354_5375del (p.Gln1785fs) rs1829386577
NM_152564.5(VPS13B):c.5359A>G (p.Ser1787Gly) rs905918713
NM_152564.5(VPS13B):c.5372A>T (p.Gln1791Leu) rs2133931614
NM_152564.5(VPS13B):c.5373G>A (p.Gln1791=) rs534024412
NM_152564.5(VPS13B):c.537T>C (p.Tyr179=) rs754351909
NM_152564.5(VPS13B):c.5385C>G (p.Ala1795=) rs371961319
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs) rs180177364
NM_152564.5(VPS13B):c.5389C>T (p.Pro1797Ser) rs1829388448
NM_152564.5(VPS13B):c.5391dup (p.Ser1798fs) rs1166294561
NM_152564.5(VPS13B):c.5402C>A (p.Ser1801Ter)
NM_152564.5(VPS13B):c.5407A>G (p.Ile1803Val) rs1829389144
NM_152564.5(VPS13B):c.5418T>C (p.Asn1806=) rs2133931722
NM_152564.5(VPS13B):c.541dup (p.Val181fs) rs2488637479
NM_152564.5(VPS13B):c.5430T>A (p.Ile1810=) rs2491206874
NM_152564.5(VPS13B):c.5433C>T (p.Pro1811=) rs2133931744
NM_152564.5(VPS13B):c.5433del (p.Phe1812fs) rs2491206880
NM_152564.5(VPS13B):c.5436T>G (p.Phe1812Leu) rs2133931748
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del) rs1057519183
NM_152564.5(VPS13B):c.5439C>T (p.Asp1813=) rs1588579468
NM_152564.5(VPS13B):c.5448T>C (p.Ile1816=) rs2133931779
NM_152564.5(VPS13B):c.5463C>G (p.Ile1821Met) rs749201575
NM_152564.5(VPS13B):c.5475C>T (p.Thr1825=) rs2491207034
NM_152564.5(VPS13B):c.547G>T (p.Glu183Ter) rs1227284058
NM_152564.5(VPS13B):c.5483G>A (p.Cys1828Tyr) rs2133931825
NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly) rs1829392467
NM_152564.5(VPS13B):c.5489C>T (p.Ala1830Val) rs1829392467
NM_152564.5(VPS13B):c.5496C>A (p.Ser1832=) rs2491207152
NM_152564.5(VPS13B):c.5496C>T (p.Ser1832=) rs2491207152
NM_152564.5(VPS13B):c.5499A>G (p.Lys1833=) rs145048987
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=) rs2133931892
NM_152564.5(VPS13B):c.5508A>T (p.Ser1836=) rs2133931892
NM_152564.5(VPS13B):c.5514A>G (p.Glu1838=) rs2491207231
NM_152564.5(VPS13B):c.5518A>T (p.Lys1840Ter) rs2491207258
NM_152564.5(VPS13B):c.5520G>T (p.Lys1840Asn) rs2133931905
NM_152564.5(VPS13B):c.5522A>G (p.Asn1841Ser) rs777799261
NM_152564.5(VPS13B):c.5526T>C (p.Asn1842=) rs2491207284
NM_152564.5(VPS13B):c.5527G>T (p.Glu1843Ter) rs2491207289
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val) rs141211386
NM_152564.5(VPS13B):c.552A>G (p.Leu184=) rs2488637528
NM_152564.5(VPS13B):c.5533dup (p.Thr1845fs) rs1176397159
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter) rs1554884838
NM_152564.5(VPS13B):c.5540dup (p.Ser1848fs) rs386834095
NM_152564.5(VPS13B):c.5547A>G (p.Ser1849=) rs1379595802
NM_152564.5(VPS13B):c.5551A>T (p.Asn1851Tyr) rs746642412
NM_152564.5(VPS13B):c.5559A>G (p.Pro1853=) rs1829395408
NM_152564.5(VPS13B):c.5572G>A (p.Asp1858Asn) rs886062542
NM_152564.5(VPS13B):c.5576T>C (p.Val1859Ala)
NM_152564.5(VPS13B):c.5577del (p.Ala1860fs) rs2491207478
NM_152564.5(VPS13B):c.5580T>G (p.Ala1860=) rs2491207488
NM_152564.5(VPS13B):c.5583G>A (p.Lys1861=) rs1314601552
NM_152564.5(VPS13B):c.5588_5589del (p.Asn1863fs) rs1829396059
NM_152564.5(VPS13B):c.5589C>G (p.Asn1863Lys) rs2491207533
NM_152564.5(VPS13B):c.558T>C (p.Asp186=) rs2132454209
NM_152564.5(VPS13B):c.5593_5614del (p.Ala1865fs) rs2491207553
NM_152564.5(VPS13B):c.5595A>G (p.Ala1865=) rs2491207595
NM_152564.5(VPS13B):c.5598T>C (p.Cys1866=) rs2133932018
NM_152564.5(VPS13B):c.5599del (p.Ile1867fs) rs1829396950
NM_152564.5(VPS13B):c.5604C>T (p.Ser1868=) rs776279248
NM_152564.5(VPS13B):c.5607G>T (p.Thr1869=) rs368851580
NM_152564.5(VPS13B):c.5608G>A (p.Val1870Met) rs1829397607
NM_152564.5(VPS13B):c.5616A>G (p.Ala1872=) rs2491207717
NM_152564.5(VPS13B):c.5617G>T (p.Glu1873Ter) rs774677234
NM_152564.5(VPS13B):c.5619A>C (p.Glu1873Asp) rs760108215
NM_152564.5(VPS13B):c.5624T>A (p.Leu1875His) rs2133932090
NM_152564.5(VPS13B):c.5624T>C (p.Leu1875Pro) rs2133932090
NM_152564.5(VPS13B):c.5627_5628insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAAAGATCTCTT (p.Leu1876delinsPhePhePhePhePhePhePheXaaXaaXaaXaaHisMetTyrThrCysAlaMetLeuValArgCysThrHisTer) rs2491207743
NM_152564.5(VPS13B):c.5629A>G (p.Arg1877Gly) rs1829398507
NM_152564.5(VPS13B):c.5637C>T (p.Ser1879=) rs2491207831
NM_152564.5(VPS13B):c.5647C>T (p.Pro1883Ser) rs2491207874
NM_152564.5(VPS13B):c.5649T>C (p.Pro1883=) rs538950670
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer) rs1554884932
NM_152564.5(VPS13B):c.5653G>T (p.Gly1885Trp) rs1829399240
NM_152564.5(VPS13B):c.5654G>A (p.Gly1885Glu) rs755804596
NM_152564.5(VPS13B):c.5655G>A (p.Gly1885=)
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5670C>A (p.Val1890=) rs1588579765
NM_152564.5(VPS13B):c.5670C>G (p.Val1890=) rs1588579765
NM_152564.5(VPS13B):c.5670C>T (p.Val1890=) rs1588579765
NM_152564.5(VPS13B):c.5675C>T (p.Ser1892Phe) rs1588579775
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs) rs386834097
NM_152564.5(VPS13B):c.5676T>C (p.Ser1892=) rs1057231115
NM_152564.5(VPS13B):c.5679T>G (p.Leu1893=) rs1189138750
NM_152564.5(VPS13B):c.5685T>C (p.Ser1895=) rs2491208079
NM_152564.5(VPS13B):c.5688T>G (p.Leu1896=) rs2491208091
NM_152564.5(VPS13B):c.5690A>G (p.His1897Arg) rs1329528398
NM_152564.5(VPS13B):c.5697C>T (p.Ser1899=)
NM_152564.5(VPS13B):c.5700A>T (p.Thr1900=) rs2491208142
NM_152564.5(VPS13B):c.5703G>A (p.Arg1901=)
NM_152564.5(VPS13B):c.5714G>C (p.Arg1905Thr) rs1829402250
NM_152564.5(VPS13B):c.5717A>G (p.Gln1906Arg)
NM_152564.5(VPS13B):c.5719del (p.Ala1907fs) rs2491208206
NM_152564.5(VPS13B):c.5721A>G (p.Ala1907=) rs769133801
NM_152564.5(VPS13B):c.572del (p.Asp191fs) rs1588038976
NM_152564.5(VPS13B):c.5733T>G (p.Thr1911=) rs2491208277
NM_152564.5(VPS13B):c.5734A>G (p.Ile1912Val) rs1829403087
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.5735T>C (p.Ile1912Thr) rs1829403156
NM_152564.5(VPS13B):c.5736T>C (p.Ile1912=) rs2491208312
NM_152564.5(VPS13B):c.5737G>T (p.Val1913Phe) rs2133932316
NM_152564.5(VPS13B):c.5742G>A (p.Arg1914=) rs1345388528
NM_152564.5(VPS13B):c.5753G>A (p.Arg1918Gln) rs904742773
NM_152564.5(VPS13B):c.5763T>A (p.Thr1921=) rs2491208397
NM_152564.5(VPS13B):c.5763T>C (p.Thr1921=) rs2491208397
NM_152564.5(VPS13B):c.5768A>C (p.Asp1923Ala) rs1829404418
NM_152564.5(VPS13B):c.5770T>C (p.Leu1924=) rs2491208437
NM_152564.5(VPS13B):c.5771del (p.Leu1924fs) rs2133932364
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs) rs754016783
NM_152564.5(VPS13B):c.5773C>A (p.Gln1925Lys) rs2133932374
NM_152564.5(VPS13B):c.5777T>C (p.Leu1926Pro) rs1829404779
NM_152564.5(VPS13B):c.5778A>G (p.Leu1926=) rs2491208495
NM_152564.5(VPS13B):c.5788C>T (p.Leu1930=) rs1378624456
NM_152564.5(VPS13B):c.5790G>C (p.Leu1930=) rs1588579889
NM_152564.5(VPS13B):c.5798T>C (p.Ile1933Thr)
NM_152564.5(VPS13B):c.580+15A>G rs2488637863
NM_152564.5(VPS13B):c.580+19T>C rs2488637897
NM_152564.5(VPS13B):c.580+1G>A rs1846848656
NM_152564.5(VPS13B):c.580+1G>T rs1846848656
NM_152564.5(VPS13B):c.580+20A>G rs1375271265
NM_152564.5(VPS13B):c.580+2T>C rs2488637752
NM_152564.5(VPS13B):c.5802G>A (p.Val1934=) rs2491208600
NM_152564.5(VPS13B):c.5802G>T (p.Val1934=) rs2491208600
NM_152564.5(VPS13B):c.5805C>T (p.Ser1935=) rs867584325
NM_152564.5(VPS13B):c.5809C>G (p.Pro1937Ala) rs1829406082
NM_152564.5(VPS13B):c.581-14T>A rs2488671493
NM_152564.5(VPS13B):c.581-16T>C
NM_152564.5(VPS13B):c.581-17T>C rs199785370
NM_152564.5(VPS13B):c.581-17T>G rs199785370
NM_152564.5(VPS13B):c.581-18G>A rs2132481452
NM_152564.5(VPS13B):c.581-1G>A rs1438331937
NM_152564.5(VPS13B):c.581-4T>G rs755775465
NM_152564.5(VPS13B):c.581-9del rs60664170
NM_152564.5(VPS13B):c.581-9dup rs60664170
NM_152564.5(VPS13B):c.5815T>C (p.Leu1939=) rs751559027
NM_152564.5(VPS13B):c.5815T>G (p.Leu1939Val) rs751559027
NM_152564.5(VPS13B):c.5817G>A (p.Leu1939=)
NM_152564.5(VPS13B):c.5819T>C (p.Leu1940Pro) rs2133932465
NM_152564.5(VPS13B):c.5820T>A (p.Leu1940=) rs1331513814
NM_152564.5(VPS13B):c.5826T>C (p.Ser1942=) rs1277471455
NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter) rs2491208697
NM_152564.5(VPS13B):c.5836_5840del (p.Arg1946fs) rs2133932487
NM_152564.5(VPS13B):c.5842C>T (p.Gln1948Ter)
NM_152564.5(VPS13B):c.5848G>C (p.Val1950Leu) rs2491208777
NM_152564.5(VPS13B):c.584C>T (p.Thr195Ile) rs770738729
NM_152564.5(VPS13B):c.5859C>A (p.Ser1953=) rs2491208827
NM_152564.5(VPS13B):c.5871T>C (p.Ala1957=) rs1829408630
NM_152564.5(VPS13B):c.5874G>T (p.Val1958=) rs2491208879
NM_152564.5(VPS13B):c.5885T>C (p.Val1962Ala) rs149408318
NM_152564.5(VPS13B):c.5886G>A (p.Val1962=) rs2491208936
NM_152564.5(VPS13B):c.5894A>C (p.Asp1965Ala) rs2491208964
NM_152564.5(VPS13B):c.5895T>C (p.Asp1965=) rs2491208966
NM_152564.5(VPS13B):c.5901A>G (p.Lys1967=)
NM_152564.5(VPS13B):c.5908+14A>C rs886062543
NM_152564.5(VPS13B):c.5908+14A>G rs886062543
NM_152564.5(VPS13B):c.5908+19dup rs2491209113
NM_152564.5(VPS13B):c.5908+1G>A
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5908+7A>C rs2491209052
NM_152564.5(VPS13B):c.5908+8C>A rs2491209062
NM_152564.5(VPS13B):c.5909-1G>T rs1057516694
NM_152564.5(VPS13B):c.5909-4T>G rs2491289660
NM_152564.5(VPS13B):c.5910T>C (p.Asp1970=) rs2129763250
NM_152564.5(VPS13B):c.5911C>T (p.Pro1971Ser) rs1830217352
NM_152564.5(VPS13B):c.5913T>C (p.Pro1971=) rs2491289730
NM_152564.5(VPS13B):c.5919G>A (p.Lys1973=) rs1588598785
NM_152564.5(VPS13B):c.5922T>C (p.Thr1974=) rs2491289789
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5924T>G (p.Leu1975Arg) rs766541661
NM_152564.5(VPS13B):c.5925G>A (p.Leu1975=) rs2129763425
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5931A>T (p.Glu1977Asp) rs1830218052
NM_152564.5(VPS13B):c.5931del (p.Ala1978fs) rs2129763497
NM_152564.5(VPS13B):c.5936_5937dup (p.Asp1980fs) rs2129763561
NM_152564.5(VPS13B):c.5946C>A (p.Cys1982Ter) rs2491289899
NM_152564.5(VPS13B):c.5952T>G (p.Val1984=)
NM_152564.5(VPS13B):c.5953T>G (p.Trp1985Gly) rs2129763705
NM_152564.5(VPS13B):c.5955G>A (p.Trp1985Ter) rs1554892040
NM_152564.5(VPS13B):c.5958A>G (p.Leu1986=) rs2129763770
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter) rs2491289979
NM_152564.5(VPS13B):c.5967G>A (p.Val1989=) rs2129763862
NM_152564.5(VPS13B):c.596T>G (p.Leu199Arg) rs2488671877
NM_152564.5(VPS13B):c.5980G>A (p.Asp1994Asn) rs1563849907
NM_152564.5(VPS13B):c.5988A>G (p.Lys1996=) rs767548464
NM_152564.5(VPS13B):c.5990G>A (p.Ser1997Asn) rs2491290153
NM_152564.5(VPS13B):c.5994T>C (p.Gly1998=) rs2129764118
NM_152564.5(VPS13B):c.5998C>T (p.Pro2000Ser) rs939700991
NM_152564.5(VPS13B):c.5T>A (p.Leu2Gln) rs1167200159
NM_152564.5(VPS13B):c.6003T>C (p.Pro2001=) rs2491290236
NM_152564.5(VPS13B):c.6004T>C (p.Ser2002Pro) rs2491290244
NM_152564.5(VPS13B):c.6009T>C (p.Phe2003=) rs1830220185
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6015A>G (p.Thr2005=) rs2491290300
NM_152564.5(VPS13B):c.6019C>T (p.Gln2007Ter) rs755870553
NM_152564.5(VPS13B):c.6023T>A (p.Ile2008Asn) rs1341696957
NM_152564.5(VPS13B):c.6030C>T (p.Asp2010=) rs2129764617
NM_152564.5(VPS13B):c.6039T>A (p.Asn2013Lys) rs1211147648
NM_152564.5(VPS13B):c.6039T>G (p.Asn2013Lys) rs1211147648
NM_152564.5(VPS13B):c.603G>A (p.Lys201=)
NM_152564.5(VPS13B):c.6046+10T>C rs2491290536
NM_152564.5(VPS13B):c.6046+12A>T rs2491290568
NM_152564.5(VPS13B):c.6046+17A>G rs2491290613
NM_152564.5(VPS13B):c.6046+17del rs2491290582
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.6046+1G>T rs750003804
NM_152564.5(VPS13B):c.6046+8A>G rs2491290508
NM_152564.5(VPS13B):c.6046+8A>T rs2491290508
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 rs2491483148
NM_152564.5(VPS13B):c.6047-16T>G
NM_152564.5(VPS13B):c.6047-17_6047-16del rs2491483074
NM_152564.5(VPS13B):c.6047-19C>A rs2491483083
NM_152564.5(VPS13B):c.6047-1G>A rs750092574
NM_152564.5(VPS13B):c.6047-20T>A rs775455935
NM_152564.5(VPS13B):c.6047-5T>C rs2491483214
NM_152564.5(VPS13B):c.6047-5T>G rs2491483214
NM_152564.5(VPS13B):c.6047-5_6047del rs1057516841
NM_152564.5(VPS13B):c.6047-6C>G rs1386160206
NM_152564.5(VPS13B):c.6047-9C>T rs1832182375
NM_152564.5(VPS13B):c.6049del (p.Asp2017fs)
NM_152564.5(VPS13B):c.6050A>G (p.Asp2017Gly) rs1157627196
NM_152564.5(VPS13B):c.6052G>A (p.Val2018Ile) rs2130179163
NM_152564.5(VPS13B):c.6054C>G (p.Val2018=) rs2491483279
NM_152564.5(VPS13B):c.6057T>C (p.Asn2019=) rs2491483290
NM_152564.5(VPS13B):c.6063T>C (p.Asp2021=) rs919026637
NM_152564.5(VPS13B):c.6067T>A (p.Ser2023Thr) rs1437722924
NM_152564.5(VPS13B):c.6068C>G (p.Ser2023Ter) rs2491483344
NM_152564.5(VPS13B):c.6074del (p.Pro2025fs) rs2491483375
NM_152564.5(VPS13B):c.6082G>A (p.Ala2028Thr) rs1310217789
NM_152564.5(VPS13B):c.6082G>C (p.Ala2028Pro) rs1310217789
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs) rs1554911430
NM_152564.5(VPS13B):c.6087C>T (p.Asn2029=) rs746122729
NM_152564.5(VPS13B):c.60C>A (p.Asn20Lys) rs2132125423
NM_152564.5(VPS13B):c.6103C>T (p.Leu2035=) rs146073786
NM_152564.5(VPS13B):c.610A>C (p.Asn204His) rs2132481643
NM_152564.5(VPS13B):c.6117C>A (p.Asn2039Lys) rs2130179604
NM_152564.5(VPS13B):c.6118del (p.Leu2040fs) rs2130179621
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs) rs1554911481
NM_152564.5(VPS13B):c.6132G>A (p.Lys2044=) rs1832185851
NM_152564.5(VPS13B):c.6132G>T (p.Lys2044Asn) rs1832185851
NM_152564.5(VPS13B):c.6134T>C (p.Ile2045Thr) rs2491483666
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs) rs2130179734
NM_152564.5(VPS13B):c.6141T>C (p.Asn2047=) rs761542645
NM_152564.5(VPS13B):c.6143C>T (p.Ala2048Val) rs1832186518
NM_152564.5(VPS13B):c.6144A>G (p.Ala2048=) rs940449954
NM_152564.5(VPS13B):c.6147_6148del (p.His2049fs) rs1588635717
NM_152564.5(VPS13B):c.6154G>T (p.Ala2052Ser) rs765025227
NM_152564.5(VPS13B):c.6156A>G (p.Ala2052=) rs2491483825
NM_152564.5(VPS13B):c.6158A>G (p.His2053Arg) rs762539148
NM_152564.5(VPS13B):c.6160A>C (p.Ser2054Arg) rs2491483850
NM_152564.5(VPS13B):c.6161G>C (p.Ser2054Thr) rs2491483855
NM_152564.5(VPS13B):c.6165A>G (p.Glu2055=) rs2491483879
NM_152564.5(VPS13B):c.6171T>C (p.Thr2057=) rs1832187710
NM_152564.5(VPS13B):c.6183del (p.Asn2062fs) rs2491483952
NM_152564.5(VPS13B):c.6184A>G (p.Asn2062Asp) rs754400139
NM_152564.5(VPS13B):c.6185A>G (p.Asn2062Ser) rs2491483968
NM_152564.5(VPS13B):c.6186C>T (p.Asn2062=) rs1832188570
NM_152564.5(VPS13B):c.6198_6202dup (p.Asp2068fs)
NM_152564.5(VPS13B):c.6201_6210del (p.Lys2067fs) rs2130180236
NM_152564.5(VPS13B):c.6202G>T (p.Asp2068Tyr) rs1212718107
NM_152564.5(VPS13B):c.6208C>T (p.Leu2070Phe) rs2491484116
NM_152564.5(VPS13B):c.6213A>G (p.Pro2071=) rs746065032
NM_152564.5(VPS13B):c.6216C>T (p.Val2072=)
NM_152564.5(VPS13B):c.621C>G (p.Asp207Glu) rs1847342750
NM_152564.5(VPS13B):c.6220A>G (p.Lys2074Glu) rs2130180328
NM_152564.5(VPS13B):c.6225T>C (p.Tyr2075=) rs2491484171
NM_152564.5(VPS13B):c.6226T>C (p.Tyr2076His) rs1832190256
NM_152564.5(VPS13B):c.6226T>G (p.Tyr2076Asp) rs1832190256
NM_152564.5(VPS13B):c.6226dup (p.Tyr2076fs) rs2491484177
NM_152564.5(VPS13B):c.6228C>A (p.Tyr2076Ter) rs2491484187
NM_152564.5(VPS13B):c.6230G>A (p.Arg2077His) rs747116389
NM_152564.5(VPS13B):c.6230G>T (p.Arg2077Leu) rs747116389
NM_152564.5(VPS13B):c.6231T>C (p.Arg2077=)
NM_152564.5(VPS13B):c.6248C>T (p.Pro2083Leu) rs1184896116
NM_152564.5(VPS13B):c.6249C>T (p.Pro2083=) rs2491484237
NM_152564.5(VPS13B):c.624T>C (p.Cys208=) rs2132481707
NM_152564.5(VPS13B):c.6257A>G (p.His2086Arg) rs2491484260
NM_152564.5(VPS13B):c.6261T>C (p.Gly2087=) rs2130180519
NM_152564.5(VPS13B):c.6266G>A (p.Gly2089Glu) rs398124336
NM_152564.5(VPS13B):c.6269T>C (p.Val2090Ala) rs1832191327
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs) rs386834100
NM_152564.5(VPS13B):c.627A>G (p.Thr209=) rs2132481722
NM_152564.5(VPS13B):c.627A>T (p.Thr209=) rs2132481722
NM_152564.5(VPS13B):c.6282A>G (p.Ser2094=) rs2130180683
NM_152564.5(VPS13B):c.6289_6295del (p.Glu2097fs) rs2491484424
NM_152564.5(VPS13B):c.6296T>A (p.Met2099Lys)
NM_152564.5(VPS13B):c.6298T>C (p.Trp2100Arg) rs758902485
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter) rs1057516331
NM_152564.5(VPS13B):c.6299_6308del (p.Trp2100fs) rs1554911731
NM_152564.5(VPS13B):c.6301A>G (p.Arg2101Gly) rs767165760
NM_152564.5(VPS13B):c.6302_6303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAACATGTGGAG (p.Arg2101_Ala2102insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluAsnMetTrpArg) rs2130180694
NM_152564.5(VPS13B):c.6306T>C (p.Ala2102=) rs2130180906
NM_152564.5(VPS13B):c.630T>C (p.Val210=) rs2132481732
NM_152564.5(VPS13B):c.6312C>T (p.Ser2104=) rs2130180969
NM_152564.5(VPS13B):c.6313T>G (p.Cys2105Gly) rs2491484554
NM_152564.5(VPS13B):c.6315C>A (p.Cys2105Ter) rs2130181003
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) rs1057516489
NM_152564.5(VPS13B):c.6329_6330del (p.Ser2110fs) rs2491484630
NM_152564.5(VPS13B):c.6330T>C (p.Ser2110=) rs2491484638
NM_152564.5(VPS13B):c.6330del (p.Val2111fs) rs2491484645
NM_152564.5(VPS13B):c.6336A>T (p.Gln2112His) rs780082543
NM_152564.5(VPS13B):c.6339T>C (p.Thr2113=) rs747262961
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs) rs386834101
NM_152564.5(VPS13B):c.6346A>G (p.Ile2116Val) rs2491484724
NM_152564.5(VPS13B):c.6362A>G (p.Glu2121Gly) rs2130181316
NM_152564.5(VPS13B):c.6364A>G (p.Thr2122Ala)
NM_152564.5(VPS13B):c.6371C>G (p.Pro2124Arg) rs762559001
NM_152564.5(VPS13B):c.6377C>G (p.Thr2126Ser) rs1832194777
NM_152564.5(VPS13B):c.6377C>T (p.Thr2126Ile)
NM_152564.5(VPS13B):c.6381del (p.Ser2127fs) rs2491484828
NM_152564.5(VPS13B):c.6395T>A (p.Leu2132Ter) rs2130181483
NM_152564.5(VPS13B):c.6398C>A (p.Ala2133Glu) rs2130181520
NM_152564.5(VPS13B):c.6399A>G (p.Ala2133=) rs2491484904
NM_152564.5(VPS13B):c.63A>G (p.Leu21=) rs1841448791
NM_152564.5(VPS13B):c.6411C>T (p.Asn2137=) rs2491484942
NM_152564.5(VPS13B):c.6412del (p.Leu2138fs) rs2491484950
NM_152564.5(VPS13B):c.6422G>C (p.Ser2141Thr) rs2491485002
NM_152564.5(VPS13B):c.6432C>A (p.Val2144=) rs1399379580
NM_152564.5(VPS13B):c.6435G>A (p.Lys2145=)
NM_152564.5(VPS13B):c.6447del (p.Val2150fs) rs2130181658
NM_152564.5(VPS13B):c.6451C>T (p.Pro2151Ser) rs2130181723
NM_152564.5(VPS13B):c.6454+10A>G rs2130181855
NM_152564.5(VPS13B):c.6454+19G>A rs2491485176
NM_152564.5(VPS13B):c.6454+19G>T rs2491485176
NM_152564.5(VPS13B):c.6454+19del rs772522395
NM_152564.5(VPS13B):c.6454+1G>C rs1235993153
NM_152564.5(VPS13B):c.6455-15G>A rs749278246
NM_152564.5(VPS13B):c.6455-16del rs2491561472
NM_152564.5(VPS13B):c.6455-17C>T
NM_152564.5(VPS13B):c.6455-20_6455-12del rs2491561453
NM_152564.5(VPS13B):c.6455-4del rs398124337
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.6455-5_6455-4dup rs398124337
NM_152564.5(VPS13B):c.6455-9T>A rs2491561535
NM_152564.5(VPS13B):c.6456C>G (p.Gly2152=) rs141845131
NM_152564.5(VPS13B):c.6456C>T (p.Gly2152=) rs141845131
NM_152564.5(VPS13B):c.6457A>G (p.Ile2153Val) rs771918634
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6470C>G (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter) rs760207157
NM_152564.5(VPS13B):c.6474A>C (p.Ser2158=)
NM_152564.5(VPS13B):c.6483C>A (p.Leu2161=) rs2130316478
NM_152564.5(VPS13B):c.6483C>T (p.Leu2161=) rs2130316478
NM_152564.5(VPS13B):c.6493G>A (p.Asp2165Asn) rs763541177
NM_152564.5(VPS13B):c.6503T>G (p.Leu2168Arg) rs120074149
NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter) rs2491561807
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6511A>G (p.Ser2171Gly) rs2491561840
NM_152564.5(VPS13B):c.6513T>A (p.Ser2171Arg) rs2130316731
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=) rs1338166382
NM_152564.5(VPS13B):c.651C>T (p.Ala217=) rs2132481774
NM_152564.5(VPS13B):c.6523_6526del (p.Arg2175fs) rs2491561874
NM_152564.5(VPS13B):c.6524G>T (p.Arg2175Ile) rs543464415
NM_152564.5(VPS13B):c.6529C>A (p.Arg2177Ser) rs756143690
NM_152564.5(VPS13B):c.6530G>T (p.Arg2177Leu) rs147099791
NM_152564.5(VPS13B):c.6531C>T (p.Arg2177=) rs753694921
NM_152564.5(VPS13B):c.6539T>G (p.Ile2180Arg) rs1037803923
NM_152564.5(VPS13B):c.6542G>A (p.Gly2181Glu) rs2491562014
NM_152564.5(VPS13B):c.6544C>T (p.Pro2182Ser) rs778567402
NM_152564.5(VPS13B):c.6546A>G (p.Pro2182=) rs374153644
NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter) rs2491562052
NM_152564.5(VPS13B):c.6552T>C (p.Cys2184=) rs2491562052
NM_152564.5(VPS13B):c.6552dup (p.Ala2185fs) rs2491562057
NM_152564.5(VPS13B):c.6560C>T (p.Ala2187Val) rs2491562096
NM_152564.5(VPS13B):c.6563A>G (p.Asn2188Ser) rs1399212150
NM_152564.5(VPS13B):c.6564T>C (p.Asn2188=) rs746691768
NM_152564.5(VPS13B):c.6565C>A (p.Leu2189Met) rs1299494623
NM_152564.5(VPS13B):c.6565C>T (p.Leu2189=) rs1299494623
NM_152564.5(VPS13B):c.6570A>G (p.Glu2190=) rs2130317152
NM_152564.5(VPS13B):c.6573T>C (p.Ala2191=) rs2491562182
NM_152564.5(VPS13B):c.6574A>G (p.Lys2192Glu) rs1357919606
NM_152564.5(VPS13B):c.6578_6579insTA (p.Trp2193fs) rs1554922054
NM_152564.5(VPS13B):c.6579G>C (p.Trp2193Cys) rs763341700
NM_152564.5(VPS13B):c.6589A>C (p.Ser2197Arg) rs1319011435
NM_152564.5(VPS13B):c.6594G>A (p.Gly2198=) rs2130317388
NM_152564.5(VPS13B):c.6600A>C (p.Pro2200=) rs1259627712
NM_152564.5(VPS13B):c.6610C>T (p.Gln2204Ter)
NM_152564.5(VPS13B):c.6612A>G (p.Gln2204=) rs754014943
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs) rs386834102
NM_152564.5(VPS13B):c.6616A>G (p.Ile2206Val)
NM_152564.5(VPS13B):c.6625dup (p.Ile2209fs) rs2130317561
NM_152564.5(VPS13B):c.6635A>C (p.Asp2212Ala) rs1832965733
NM_152564.5(VPS13B):c.6636C>T (p.Asp2212=) rs750393129
NM_152564.5(VPS13B):c.6647_6653del (p.Gly2216fs) rs2491562436
NM_152564.5(VPS13B):c.664G>T (p.Glu222Ter) rs2132481787
NM_152564.5(VPS13B):c.6652C>A (p.Leu2218Ile) rs559107679
NM_152564.5(VPS13B):c.6652C>T (p.Leu2218=) rs559107679
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter) rs1057516663
NM_152564.5(VPS13B):c.6657+14G>A rs2130317929
NM_152564.5(VPS13B):c.6657+15G>T rs2491562642
NM_152564.5(VPS13B):c.6657+16C>T
NM_152564.5(VPS13B):c.6657+18A>C
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6657+2T>C rs1832966881
NM_152564.5(VPS13B):c.6657+8G>A rs2130317888
NM_152564.5(VPS13B):c.6658-10G>T rs1833085926
NM_152564.5(VPS13B):c.6658-12A>G rs755599767
NM_152564.5(VPS13B):c.6658-13T>G rs369117364
NM_152564.5(VPS13B):c.6658-13del rs1301739623
NM_152564.5(VPS13B):c.6658-13dup rs1301739623
NM_152564.5(VPS13B):c.6658-15T>A rs2491576804
NM_152564.5(VPS13B):c.6658-18T>G
NM_152564.5(VPS13B):c.6658-2A>G rs386834103
NM_152564.5(VPS13B):c.6658-5dup rs2491576895
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=) rs2130339813
NM_152564.5(VPS13B):c.6673G>C (p.Glu2225Gln) rs1026588488
NM_152564.5(VPS13B):c.6684T>C (p.Asn2228=) rs2491577143
NM_152564.5(VPS13B):c.6689del (p.Cys2229_Leu2230insTer) rs2491577146
NM_152564.5(VPS13B):c.6693T>G (p.Val2231=) rs1833088212
NM_152564.5(VPS13B):c.6697_6698del (p.Leu2233fs) rs2491577168
NM_152564.5(VPS13B):c.6698T>G (p.Leu2233Arg) rs776873589
NM_152564.5(VPS13B):c.6702T>C (p.His2234=) rs2491577215
NM_152564.5(VPS13B):c.6705A>G (p.Glu2235=) rs2130339992
NM_152564.5(VPS13B):c.6726T>C (p.Asn2242=) rs1274744211
NM_152564.5(VPS13B):c.673C>T (p.Gln225Ter)
NM_152564.5(VPS13B):c.6746T>A (p.Val2249Glu) rs1833089427
NM_152564.5(VPS13B):c.6747A>C (p.Val2249=) rs767234590
NM_152564.5(VPS13B):c.6747_6752del (p.Gln2250_Val2251del) rs1833089374
NM_152564.5(VPS13B):c.6749A>C (p.Gln2250Pro) rs1180682567
NM_152564.5(VPS13B):c.6750A>G (p.Gln2250=) rs1833089749
NM_152564.5(VPS13B):c.6756T>C (p.Ser2252=) rs2491577571
NM_152564.5(VPS13B):c.675G>A (p.Gln225=) rs750903037
NM_152564.5(VPS13B):c.6760C>T (p.Pro2254Ser) rs777259936
NM_152564.5(VPS13B):c.6765G>C (p.Val2255=) rs544426092
NM_152564.5(VPS13B):c.6780T>C (p.Ser2260=) rs1277725282
NM_152564.5(VPS13B):c.6801A>T (p.Thr2267=) rs2130340554
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) rs761736983
NM_152564.5(VPS13B):c.6806A>T (p.Lys2269Ile) rs2491577762
NM_152564.5(VPS13B):c.6810T>C (p.Ser2270=) rs2491577780
NM_152564.5(VPS13B):c.6813A>G (p.Glu2271=) rs2491577791
NM_152564.5(VPS13B):c.681T>A (p.Pro227=) rs1020075560
NM_152564.5(VPS13B):c.6822A>T (p.Ser2274=) rs2491577813
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs) rs1057516302
NM_152564.5(VPS13B):c.6834G>A (p.Arg2278=) rs1833091810
NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs) rs2491577873
NM_152564.5(VPS13B):c.6837A>T (p.Thr2279=) rs2491577885
NM_152564.5(VPS13B):c.6839del (p.Gly2280fs)
NM_152564.5(VPS13B):c.6848A>T (p.Gln2283Leu) rs1833091984
NM_152564.5(VPS13B):c.6852T>C (p.Tyr2284=) rs2130340773
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter) rs1833092121
NM_152564.5(VPS13B):c.6857A>G (p.Gln2286Arg) rs200713917
NM_152564.5(VPS13B):c.6860A>G (p.Asp2287Gly) rs763072882
NM_152564.5(VPS13B):c.6861T>C (p.Asp2287=) rs1833092334
NM_152564.5(VPS13B):c.6862G>A (p.Ala2288Thr) rs201909199
NM_152564.5(VPS13B):c.6865+14G>C rs2491578019
NM_152564.5(VPS13B):c.6865+17T>A rs947834844
NM_152564.5(VPS13B):c.6865+18C>G rs1373890447
NM_152564.5(VPS13B):c.6865+7A>G rs2491578004
NM_152564.5(VPS13B):c.6865G>A (p.Glu2289Lys)
NM_152564.5(VPS13B):c.6866-10T>C rs760306334
NM_152564.5(VPS13B):c.6866-12T>C rs1226438175
NM_152564.5(VPS13B):c.6866-14C>G rs1277958075
NM_152564.5(VPS13B):c.6866-1G>A
NM_152564.5(VPS13B):c.6866-7T>C rs2491579891
NM_152564.5(VPS13B):c.6866-9A>G rs2130342811
NM_152564.5(VPS13B):c.6867A>G (p.Glu2289=) rs1217062116
NM_152564.5(VPS13B):c.6878T>C (p.Leu2293Ser) rs2491579971
NM_152564.5(VPS13B):c.6881C>T (p.Pro2294Leu) rs1833104493
NM_152564.5(VPS13B):c.6882T>C (p.Pro2294=) rs2130342974
NM_152564.5(VPS13B):c.6882del (p.Val2296fs) rs2491580027
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=) rs2491580086
NM_152564.5(VPS13B):c.6896_6897delinsAAGACCCAGTTTCA (p.Val2299delinsGluAspProValSer)
NM_152564.5(VPS13B):c.6905A>G (p.Tyr2302Cys) rs1833105159
NM_152564.5(VPS13B):c.6915T>C (p.Thr2305=) rs1833105356
NM_152564.5(VPS13B):c.6919G>A (p.Asp2307Asn) rs1833105526
NM_152564.5(VPS13B):c.6921T>C (p.Asp2307=) rs2130343166
NM_152564.5(VPS13B):c.6927A>G (p.Pro2309=) rs2491580253
NM_152564.5(VPS13B):c.6930G>T (p.Gly2310=) rs778096388
NM_152564.5(VPS13B):c.6939A>G (p.Leu2313=)
NM_152564.5(VPS13B):c.6951A>C (p.Pro2317=)
NM_152564.5(VPS13B):c.6951A>G (p.Pro2317=) rs1175046825
NM_152564.5(VPS13B):c.6955C>T (p.Pro2319Ser) rs2130343418
NM_152564.5(VPS13B):c.6957T>C (p.Pro2319=) rs2491580400
NM_152564.5(VPS13B):c.6962_6963delinsCG (p.Val2321Ala) rs1833106696
NM_152564.5(VPS13B):c.6966C>T (p.Leu2322=) rs2491580466
NM_152564.5(VPS13B):c.6969C>G (p.Thr2323=) rs2130343504
NM_152564.5(VPS13B):c.6969C>T (p.Thr2323=) rs2130343504
NM_152564.5(VPS13B):c.6970C>G (p.Leu2324Val) rs2130343510
NM_152564.5(VPS13B):c.6979del (p.Arg2326_Ile2327insTer) rs2491580504
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs) rs1554924412
NM_152564.5(VPS13B):c.6983C>T (p.Thr2328Ile) rs764775015
NM_152564.5(VPS13B):c.6985C>G (p.Pro2329Ala) rs2491580535
NM_152564.5(VPS13B):c.6987T>C (p.Pro2329=) rs2130343654
NM_152564.5(VPS13B):c.6988G>A (p.Val2330Ile) rs1225625819
NM_152564.5(VPS13B):c.6988G>T (p.Val2330Leu) rs1225625819
NM_152564.5(VPS13B):c.6G>T (p.Leu2=) rs752072948
NM_152564.5(VPS13B):c.7004_7005del (p.Thr2335fs)
NM_152564.5(VPS13B):c.7011T>C (p.Asp2337=) rs965825601
NM_152564.5(VPS13B):c.7020del (p.Ser2341fs) rs1833108141
NM_152564.5(VPS13B):c.7022G>A (p.Ser2341Asn) rs2130343782
NM_152564.5(VPS13B):c.7032C>T (p.Asp2344=) rs2130343837
NM_152564.5(VPS13B):c.7033C>G (p.Leu2345Val) rs2491580758
NM_152564.5(VPS13B):c.7040A>T (p.Asp2347Val) rs1563881705
NM_152564.5(VPS13B):c.7041T>C (p.Asp2347=) rs1253879066
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7050+13C>G rs1459664124
NM_152564.5(VPS13B):c.7050+13C>T rs1459664124
NM_152564.5(VPS13B):c.7050+1G>T rs1057516840
NM_152564.5(VPS13B):c.7050+2243A>G rs150015037
NM_152564.5(VPS13B):c.7050+5G>A rs1302816737
NM_152564.5(VPS13B):c.7050+9T>C rs753256554
NM_152564.5(VPS13B):c.7051-13T>A rs2491773750
NM_152564.5(VPS13B):c.7051-13del rs778890333
NM_152564.5(VPS13B):c.7051-3dup rs2491773855
NM_152564.5(VPS13B):c.7051-5C>A rs2491773836
NM_152564.5(VPS13B):c.7051-7A>T
NM_152564.5(VPS13B):c.7059T>G (p.Cys2353Trp)
NM_152564.5(VPS13B):c.7062C>T (p.Ser2354=) rs2130621143
NM_152564.5(VPS13B):c.706A>G (p.Thr236Ala) rs1847346139
NM_152564.5(VPS13B):c.7071C>T (p.Tyr2357=) rs764546538
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.7086G>A (p.Gln2362=) rs2130621281
NM_152564.5(VPS13B):c.7088A>T (p.Lys2363Met) rs778935189
NM_152564.5(VPS13B):c.7089G>A (p.Lys2363=) rs1476065012
NM_152564.5(VPS13B):c.7099G>T (p.Ala2367Ser) rs1001142449
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs) rs1554948192
NM_152564.5(VPS13B):c.709_713del (p.Arg237fs) rs2488672432
NM_152564.5(VPS13B):c.7101A>G (p.Ala2367=) rs2491774164
NM_152564.5(VPS13B):c.7106G>A (p.Arg2369Lys) rs2491774178
NM_152564.5(VPS13B):c.7116T>A (p.Asn2372Lys) rs2491774230
NM_152564.5(VPS13B):c.7116T>C (p.Asn2372=) rs2491774230
NM_152564.5(VPS13B):c.7119G>A (p.Leu2373=) rs2491774267
NM_152564.5(VPS13B):c.7119G>C (p.Leu2373=) rs2491774267
NM_152564.5(VPS13B):c.7135del (p.Cys2379fs) rs2130621458
NM_152564.5(VPS13B):c.7136G>T (p.Cys2379Phe) rs1373068816
NM_152564.5(VPS13B):c.7137T>C (p.Cys2379=) rs2491774331
NM_152564.5(VPS13B):c.7141C>G (p.Leu2381Val) rs2491774347
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter) rs2491774358
NM_152564.5(VPS13B):c.7146G>A (p.Gln2382=) rs542396703
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs) rs386834105
NM_152564.5(VPS13B):c.7147_7149del (p.Leu2383del) rs2130621539
NM_152564.5(VPS13B):c.7151C>G (p.Pro2384Arg) rs183874686
NM_152564.5(VPS13B):c.7153G>A (p.Asp2385Asn) rs1347208371
NM_152564.5(VPS13B):c.7154del (p.Asp2385fs)
NM_152564.5(VPS13B):c.7156A>T (p.Ile2386Phe) rs370689956
NM_152564.5(VPS13B):c.7159A>C (p.Asn2387His) rs915120404
NM_152564.5(VPS13B):c.7163T>A (p.Leu2388His) rs2491774460
NM_152564.5(VPS13B):c.7173C>T (p.Asp2391=) rs1260714272
NM_152564.5(VPS13B):c.7176G>A (p.Gln2392=) rs2491774541
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter) rs2491774546
NM_152564.5(VPS13B):c.7179G>A (p.Lys2393=) rs2130621684
NM_152564.5(VPS13B):c.7180A>G (p.Lys2394Glu) rs1057516660
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter) rs1057516660
NM_152564.5(VPS13B):c.7184T>G (p.Leu2395Ter) rs2491774580
NM_152564.5(VPS13B):c.7185A>G (p.Leu2395=) rs2491774588
NM_152564.5(VPS13B):c.7185dup (p.Val2396fs)
NM_152564.5(VPS13B):c.7186G>A (p.Val2396Ile) rs1811255457
NM_152564.5(VPS13B):c.7190del (p.Ser2397fs) rs2491774628
NM_152564.5(VPS13B):c.7191_7192del (p.Ser2398fs) rs1811255718
NM_152564.5(VPS13B):c.7195G>A (p.Asp2399Asn) rs1563907935
NM_152564.5(VPS13B):c.7195_7196dup (p.Asp2399fs)
NM_152564.5(VPS13B):c.7200T>G (p.Leu2400=) rs762034638
NM_152564.5(VPS13B):c.7204A>G (p.Arg2402Gly) rs1284143834
NM_152564.5(VPS13B):c.7206A>G (p.Arg2402=) rs2130621835
NM_152564.5(VPS13B):c.7211T>C (p.Val2404Ala)
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7218C>T (p.Asn2406=) rs2130621889
NM_152564.5(VPS13B):c.721A>G (p.Thr241Ala) rs2488672541
NM_152564.5(VPS13B):c.7227A>G (p.Gln2409=) rs2130621938
NM_152564.5(VPS13B):c.722C>T (p.Thr241Ile) rs1847347620
NM_152564.5(VPS13B):c.7231G>A (p.Gly2411Arg) rs2130621965
NM_152564.5(VPS13B):c.7235C>G (p.Ala2412Gly) rs780093448
NM_152564.5(VPS13B):c.7239T>C (p.Asp2413=) rs751702954
NM_152564.5(VPS13B):c.723A>C (p.Thr241=) rs778049327
NM_152564.5(VPS13B):c.7246A>C (p.Ser2416Arg) rs1342271383
NM_152564.5(VPS13B):c.7247+10T>C rs2491775033
NM_152564.5(VPS13B):c.7247+11G>C rs2491775043
NM_152564.5(VPS13B):c.7247+12A>G rs1588695453
NM_152564.5(VPS13B):c.7247+15G>A rs2491775067
NM_152564.5(VPS13B):c.7247+17T>A rs967196002
NM_152564.5(VPS13B):c.7247+17T>C rs967196002
NM_152564.5(VPS13B):c.7247+18G>A rs769448684
NM_152564.5(VPS13B):c.7247+19A>C rs1811259001
NM_152564.5(VPS13B):c.7247+19A>G rs1811259001
NM_152564.5(VPS13B):c.7247+2043_7403del
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.7247+8A>C rs2130622077
NM_152564.5(VPS13B):c.7247+9T>A rs545008110
NM_152564.5(VPS13B):c.7248-11C>A rs2491829452
NM_152564.5(VPS13B):c.7248-16C>T rs750856261
NM_152564.5(VPS13B):c.7248-1G>C rs763079458
NM_152564.5(VPS13B):c.7248-4A>G rs2130667870
NM_152564.5(VPS13B):c.7248-4A>T
NM_152564.5(VPS13B):c.7248-6C>T rs2491829483
NM_152564.5(VPS13B):c.7248-9T>G rs2491829470
NM_152564.5(VPS13B):c.7250C>T (p.Ser2417Phe) rs1811761899
NM_152564.5(VPS13B):c.7259A>G (p.Glu2420Gly) rs1811762443
NM_152564.5(VPS13B):c.7263T>C (p.Ser2421=) rs2491829750
NM_152564.5(VPS13B):c.726T>C (p.Tyr242=) rs1847348400
NM_152564.5(VPS13B):c.726T>G (p.Tyr242Ter)
NM_152564.5(VPS13B):c.7273A>C (p.Ser2425Arg) rs2491829840
NM_152564.5(VPS13B):c.7276A>G (p.Thr2426Ala) rs2130667997
NM_152564.5(VPS13B):c.7277C>G (p.Thr2426Ser) rs1811763232
NM_152564.5(VPS13B):c.728A>G (p.Glu243Gly) rs770736283
NM_152564.5(VPS13B):c.7293G>A (p.Val2431=) rs2491830112
NM_152564.5(VPS13B):c.7295C>T (p.Thr2432Ile) rs2130668061
NM_152564.5(VPS13B):c.7299A>G (p.Pro2433=) rs2130668083
NM_152564.5(VPS13B):c.7302A>G (p.Thr2434=) rs1811764109
NM_152564.5(VPS13B):c.7305C>T (p.Ala2435=) rs943395985
NM_152564.5(VPS13B):c.7308G>T (p.Leu2436=) rs2491830205
NM_152564.5(VPS13B):c.7311T>G (p.Ala2437=) rs2130668146
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs) rs1554952467
NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter) rs2491830256
NM_152564.5(VPS13B):c.7326T>A (p.Val2442=) rs2130668217
NM_152564.5(VPS13B):c.7326T>C (p.Val2442=) rs2130668217
NM_152564.5(VPS13B):c.7329C>T (p.Asp2443=) rs2130668225
NM_152564.5(VPS13B):c.7330T>A (p.Ser2444Thr) rs373779146
NM_152564.5(VPS13B):c.7334G>C (p.Cys2445Ser) rs926240307
NM_152564.5(VPS13B):c.7344A>G (p.Pro2448=) rs745547811
NM_152564.5(VPS13B):c.7344A>T (p.Pro2448=) rs745547811
NM_152564.5(VPS13B):c.7347G>T (p.Trp2449Cys) rs2491830451
NM_152564.5(VPS13B):c.7353C>T (p.Val2451=) rs1232917163
NM_152564.5(VPS13B):c.735A>G (p.Leu245=) rs1847349558
NM_152564.5(VPS13B):c.7362T>C (p.Leu2454=) rs2130668372
NM_152564.5(VPS13B):c.7362T>G (p.Leu2454=) rs2130668372
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_152564.5(VPS13B):c.7367T>C (p.Val2456Ala) rs1811766657
NM_152564.5(VPS13B):c.7374C>T (p.Phe2458=) rs2491830637
NM_152564.5(VPS13B):c.738T>C (p.Asn246=) rs1194240787
NM_152564.5(VPS13B):c.7395C>T (p.Phe2465=) rs2130668529
NM_152564.5(VPS13B):c.7396del (p.His2466fs) rs1554952554
NM_152564.5(VPS13B):c.7406A>G (p.His2469Arg) rs2491830845
NM_152564.5(VPS13B):c.7410C>T (p.His2470=) rs756155241
NM_152564.5(VPS13B):c.7416C>T (p.Asp2472=) rs2491830894
NM_152564.5(VPS13B):c.741C>T (p.Ser247=)
NM_152564.5(VPS13B):c.7422A>C (p.Leu2474=) rs2491830931
NM_152564.5(VPS13B):c.7423G>C (p.Gly2475Arg) rs2491830943
NM_152564.5(VPS13B):c.7424G>A (p.Gly2475Asp) rs2130668636
NM_152564.5(VPS13B):c.7426A>G (p.Thr2476Ala) rs2130668658
NM_152564.5(VPS13B):c.7427C>A (p.Thr2476Lys) rs2130668663
NM_152564.5(VPS13B):c.7429+11T>C rs1811770416
NM_152564.5(VPS13B):c.7429+13T>A rs2491831132
NM_152564.5(VPS13B):c.7429+14del rs747441995
NM_152564.5(VPS13B):c.7429+14dup rs747441995
NM_152564.5(VPS13B):c.7429+15A>T rs1002318603
NM_152564.5(VPS13B):c.7429+17C>G rs2491831154
NM_152564.5(VPS13B):c.7429+17C>T rs2491831154
NM_152564.5(VPS13B):c.7429+18A>C rs374929892
NM_152564.5(VPS13B):c.7429+1G>A rs386834106
NM_152564.5(VPS13B):c.7429+2T>C rs1057517393
NM_152564.5(VPS13B):c.7429+3A>G rs1811769162
NM_152564.5(VPS13B):c.7429+6C>T rs1563912462
NM_152564.5(VPS13B):c.7429+7T>C rs2130668728
NM_152564.5(VPS13B):c.7430-13_7430-10del rs1194238958
NM_152564.5(VPS13B):c.7430-14T>C rs764112722
NM_152564.5(VPS13B):c.7430-17G>C rs2491841677
NM_152564.5(VPS13B):c.7430-7T>G rs2491841746
NM_152564.5(VPS13B):c.7430C>T (p.Ala2477Val) rs761890013
NM_152564.5(VPS13B):c.7437A>G (p.Pro2479=) rs1811864361
NM_152564.5(VPS13B):c.7446A>G (p.Leu2482=) rs2491841870
NM_152564.5(VPS13B):c.7447C>T (p.Gln2483Ter) rs980463746
NM_152564.5(VPS13B):c.7449G>A (p.Gln2483=) rs1382583981
NM_152564.5(VPS13B):c.744G>T (p.Lys248Asn) rs2132482090
NM_152564.5(VPS13B):c.7453T>C (p.Phe2485Leu) rs1811864935
NM_152564.5(VPS13B):c.7453T>G (p.Phe2485Val)
NM_152564.5(VPS13B):c.7461C>A (p.Ser2487=)
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=) rs751190453
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn) rs780602782
NM_152564.5(VPS13B):c.7464C>T (p.Asp2488=) rs990040393
NM_152564.5(VPS13B):c.7466G>T (p.Arg2489Ile) rs1438199361
NM_152564.5(VPS13B):c.746T>C (p.Met249Thr) rs1251254222
NM_152564.5(VPS13B):c.7472T>G (p.Met2491Arg) rs1588704212
NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter) rs2491842001
NM_152564.5(VPS13B):c.7485A>G (p.Leu2495=) rs746175640
NM_152564.5(VPS13B):c.7491C>T (p.Tyr2497=) rs2491842060
NM_152564.5(VPS13B):c.7498_7501del (p.Val2500fs) rs2491842094
NM_152564.5(VPS13B):c.74A>T (p.Asp25Val) rs1841449266
NM_152564.5(VPS13B):c.7503C>T (p.Ser2501=) rs2130678510
NM_152564.5(VPS13B):c.7508G>A (p.Arg2503Lys) rs2130678538
NM_152564.5(VPS13B):c.7509A>G (p.Arg2503=) rs2130678548
NM_152564.5(VPS13B):c.7518C>T (p.His2506=) rs2491842189
NM_152564.5(VPS13B):c.7520T>C (p.Met2507Thr) rs1563913361
NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val) rs1811867338
NM_152564.5(VPS13B):c.7527T>A (p.Leu2509=) rs2491842250
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter) rs386834108
NM_152564.5(VPS13B):c.7536G>C (p.Trp2512Cys) rs1434963421
NM_152564.5(VPS13B):c.7536G>T (p.Trp2512Cys) rs1434963421
NM_152564.5(VPS13B):c.7540A>G (p.Asn2514Asp) rs1811867927
NM_152564.5(VPS13B):c.7543G>C (p.Gly2515Arg)
NM_152564.5(VPS13B):c.7545T>A (p.Gly2515=) rs2130678759
NM_152564.5(VPS13B):c.7547C>G (p.Ser2516Cys) rs2130678778
NM_152564.5(VPS13B):c.7549G>A (p.Val2517Ile) rs946554822
NM_152564.5(VPS13B):c.7551C>A (p.Val2517=) rs1811868664
NM_152564.5(VPS13B):c.7552T>C (p.Cys2518Arg) rs1469528778
NM_152564.5(VPS13B):c.7552_7555del (p.Cys2518fs) rs886041587
NM_152564.5(VPS13B):c.7554T>C (p.Cys2518=) rs2491842464
NM_152564.5(VPS13B):c.7555C>T (p.Gln2519Ter) rs2491842475
NM_152564.5(VPS13B):c.7558G>T (p.Glu2520Ter) rs2130678821
NM_152564.5(VPS13B):c.7564del (p.Gln2522fs) rs2491842486
NM_152564.5(VPS13B):c.7565A>G (p.Gln2522Arg) rs2491842490
NM_152564.5(VPS13B):c.7568_7569delinsAA (p.Phe2523Ter) rs2491842520
NM_152564.5(VPS13B):c.7569C>T (p.Phe2523=) rs776907826
NM_152564.5(VPS13B):c.7576C>G (p.Gln2526Glu) rs1811869155
NM_152564.5(VPS13B):c.7576C>T (p.Gln2526Ter) rs1811869155
NM_152564.5(VPS13B):c.7578A>G (p.Gln2526=)
NM_152564.5(VPS13B):c.7594C>G (p.Leu2532Val) rs750397558
NM_152564.5(VPS13B):c.7599G>A (p.Glu2533=) rs762784545
NM_152564.5(VPS13B):c.7602C>T (p.Cys2534=)
NM_152564.5(VPS13B):c.7603A>C (p.Arg2535=) rs2130678967
NM_152564.5(VPS13B):c.7606A>G (p.Asn2536Asp) rs979347048
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter) rs910393433
NM_152564.5(VPS13B):c.7610T>G (p.Val2537Gly) rs751188155
NM_152564.5(VPS13B):c.7616T>G (p.Met2539Arg) rs1290655527
NM_152564.5(VPS13B):c.7617G>A (p.Met2539Ile) rs2491842802
NM_152564.5(VPS13B):c.7618C>G (p.Gln2540Glu) rs2491842813
NM_152564.5(VPS13B):c.761A>G (p.Lys254Arg) rs2488672761
NM_152564.5(VPS13B):c.762+11C>T rs2488672886
NM_152564.5(VPS13B):c.762+11_762+12insA rs776290708
NM_152564.5(VPS13B):c.762+19dup rs770716174
NM_152564.5(VPS13B):c.762+1G>A rs2488672772
NM_152564.5(VPS13B):c.762+20_762+21delinsAA rs2488672925
NM_152564.5(VPS13B):c.762+2T>C rs1588048848
NM_152564.5(VPS13B):c.762+4G>A rs2132482160
NM_152564.5(VPS13B):c.762+5_762+6dup rs2132482179
NM_152564.5(VPS13B):c.762+7A>G rs775088828
NM_152564.5(VPS13B):c.762+7A>T
NM_152564.5(VPS13B):c.762+9C>A
NM_152564.5(VPS13B):c.7624GTG[1] (p.Val2543del) rs1811870870
NM_152564.5(VPS13B):c.7625T>C (p.Val2542Ala) rs2130679096
NM_152564.5(VPS13B):c.7627G>T (p.Val2543Leu) rs1811871000
NM_152564.5(VPS13B):c.7629G>T (p.Val2543=) rs2491842901
NM_152564.5(VPS13B):c.763-20A>G rs778175674
NM_152564.5(VPS13B):c.763-2118G>T rs2488680476
NM_152564.5(VPS13B):c.763-5T>C rs1847622951
NM_152564.5(VPS13B):c.7634C>T (p.Pro2545Leu) rs1413795857
NM_152564.5(VPS13B):c.7642A>G (p.Ile2548Val)
NM_152564.5(VPS13B):c.7650G>A (p.Gly2550=) rs2491843056
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7657G>A (p.Ala2553Thr) rs768827248
NM_152564.5(VPS13B):c.7657_7672del (p.Met2552_Ala2553insTer)
NM_152564.5(VPS13B):c.7658C>T (p.Ala2553Val) rs2130679255
NM_152564.5(VPS13B):c.7659A>G (p.Ala2553=) rs776995646
NM_152564.5(VPS13B):c.7659A>T (p.Ala2553=) rs776995646
NM_152564.5(VPS13B):c.7665C>T (p.Ser2555=) rs2130679322
NM_152564.5(VPS13B):c.7671T>C (p.Asp2557=) rs1414554416
NM_152564.5(VPS13B):c.7673T>C (p.Val2558Ala) rs1294246109
NM_152564.5(VPS13B):c.7677G>A (p.Val2559=) rs373165767
NM_152564.5(VPS13B):c.7683G>A (p.Lys2561=) rs1205859728
NM_152564.5(VPS13B):c.7683G>T (p.Lys2561Asn) rs1205859728
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs) rs771308343
NM_152564.5(VPS13B):c.7684C>T (p.Leu2562=) rs1001869077
NM_152564.5(VPS13B):c.7689T>C (p.Leu2563=) rs2130679519
NM_152564.5(VPS13B):c.7691A>G (p.Asp2564Gly) rs2130679527
NM_152564.5(VPS13B):c.7692C>T (p.Asp2564=) rs767022008
NM_152564.5(VPS13B):c.7696A>G (p.Thr2566Ala) rs200302943
NM_152564.5(VPS13B):c.7713T>C (p.Ser2571=) rs2491843713
NM_152564.5(VPS13B):c.7713T>G (p.Ser2571=) rs2491843713
NM_152564.5(VPS13B):c.7728T>C (p.Leu2576=) rs2491843822
NM_152564.5(VPS13B):c.7731A>G (p.Gly2577=) rs921182844
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter) rs1230710158
NM_152564.5(VPS13B):c.7734_7746del (p.Gln2578fs) rs2130679794
NM_152564.5(VPS13B):c.7737T>A (p.His2579Gln) rs147593451
NM_152564.5(VPS13B):c.7738G>A (p.Val2580Ile)
NM_152564.5(VPS13B):c.7740A>C (p.Val2580=) rs1281733005
NM_152564.5(VPS13B):c.7749A>G (p.Ser2583=) rs2130679871
NM_152564.5(VPS13B):c.7750C>G (p.Leu2584Val) rs774362514
NM_152564.5(VPS13B):c.7750C>T (p.Leu2584=) rs774362514
NM_152564.5(VPS13B):c.7751T>G (p.Leu2584Arg)
NM_152564.5(VPS13B):c.7777del (p.Gln2593fs) rs2130680017
NM_152564.5(VPS13B):c.7779+18C>T
NM_152564.5(VPS13B):c.7779+1G>C rs2491844131
NM_152564.5(VPS13B):c.7779+1G>T rs2491844131
NM_152564.5(VPS13B):c.7779+5G>T rs1454252779
NM_152564.5(VPS13B):c.7779+8C>T rs2491844221
NM_152564.5(VPS13B):c.7779+9A>G rs2491844234
NM_152564.5(VPS13B):c.7779G>A (p.Gln2593=) rs796478997
NM_152564.5(VPS13B):c.777G>C (p.Val259=) rs2132497634
NM_152564.5(VPS13B):c.7780-16A>G rs1428997277
NM_152564.5(VPS13B):c.7780-18G>A rs781012951
NM_152564.5(VPS13B):c.7780-20T>C
NM_152564.5(VPS13B):c.7780-22_7780-19del rs781745355
NM_152564.5(VPS13B):c.7780-7C>T rs2491873299
NM_152564.5(VPS13B):c.7780-9T>C rs1177759534
NM_152564.5(VPS13B):c.7797A>G (p.Val2599=) rs760168037
NM_152564.5(VPS13B):c.7809del (p.Phe2604fs)
NM_152564.5(VPS13B):c.7815C>T (p.Ser2605=) rs2491873485
NM_152564.5(VPS13B):c.7821T>C (p.Phe2607=) rs1229910112
NM_152564.5(VPS13B):c.7828del (p.Cys2610fs) rs1812158350
NM_152564.5(VPS13B):c.7833T>C (p.Asn2611=) rs2130702420
NM_152564.5(VPS13B):c.7840C>A (p.Gln2614Lys) rs1812158857
NM_152564.5(VPS13B):c.7840C>T (p.Gln2614Ter)
NM_152564.5(VPS13B):c.7845G>A (p.Glu2615=) rs2130702451
NM_152564.5(VPS13B):c.7847C>T (p.Thr2616Ile) rs1812159282
NM_152564.5(VPS13B):c.7850T>C (p.Leu2617Pro) rs1563916076
NM_152564.5(VPS13B):c.7852C>A (p.Arg2618=) rs779101063
NM_152564.5(VPS13B):c.7854G>T (p.Arg2618=) rs1037652827
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.7860C>A (p.Gly2620=) rs2491873690
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs) rs386834109
NM_152564.5(VPS13B):c.7864del (p.Val2622fs) rs2491873704
NM_152564.5(VPS13B):c.7890G>A (p.Leu2630=) rs2491873833
NM_152564.5(VPS13B):c.7896T>C (p.Ser2632=) rs1563916146
NM_152564.5(VPS13B):c.7911G>A (p.Gln2637=) rs2130702705
NM_152564.5(VPS13B):c.7917C>T (p.Ser2639=) rs2130702727
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter) rs2130702734
NM_152564.5(VPS13B):c.7926T>A (p.Ser2642=) rs2491874070
NM_152564.5(VPS13B):c.7926T>C (p.Ser2642=) rs2491874070
NM_152564.5(VPS13B):c.7929C>T (p.His2643=) rs2130702779
NM_152564.5(VPS13B):c.7934C>G (p.Ser2645Cys) rs1812163324
NM_152564.5(VPS13B):c.7941+12A>G rs1275998375
NM_152564.5(VPS13B):c.7941+15C>A rs1812164271
NM_152564.5(VPS13B):c.7941+18T>A rs753986337
NM_152564.5(VPS13B):c.7941+18T>C rs753986337
NM_152564.5(VPS13B):c.7941+1G>A rs1554955952
NM_152564.5(VPS13B):c.7941+7G>C rs764563210
NM_152564.5(VPS13B):c.7941+9G>A rs2491874230
NM_152564.5(VPS13B):c.7942-11T>A
NM_152564.5(VPS13B):c.7942-12T>C rs2491976399
NM_152564.5(VPS13B):c.7942-16T>C rs2491976349
NM_152564.5(VPS13B):c.7942-20A>G
NM_152564.5(VPS13B):c.7942-4C>T
NM_152564.5(VPS13B):c.7942-6dup rs2130785582
NM_152564.5(VPS13B):c.7942-7dup rs748926858
NM_152564.5(VPS13B):c.7942-8T>G rs2491976436
NM_152564.5(VPS13B):c.7942C>G (p.Leu2648Val) rs765442907
NM_152564.5(VPS13B):c.7946T>A (p.Leu2649Ter) rs2130785617
NM_152564.5(VPS13B):c.7951A>G (p.Ile2651Val) rs1588732028
NM_152564.5(VPS13B):c.7953C>A (p.Ile2651=) rs2130785637
NM_152564.5(VPS13B):c.7954T>G (p.Cys2652Gly) rs1343091132
NM_152564.5(VPS13B):c.7958T>C (p.Ile2653Thr) rs1813583407
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.7960G>A (p.Glu2654Lys) rs2130785652
NM_152564.5(VPS13B):c.7963G>C (p.Gly2655Arg) rs1433870539
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs) rs1554560668
NM_152564.5(VPS13B):c.7965T>A (p.Gly2655=) rs758430817
NM_152564.5(VPS13B):c.7969_7983del (p.Gly2657_Trp2661del) rs1554560677
NM_152564.5(VPS13B):c.7980T>A (p.Arg2660=) rs780841974
NM_152564.5(VPS13B):c.7980T>C (p.Arg2660=) rs780841974
NM_152564.5(VPS13B):c.7982G>A (p.Trp2661Ter) rs2491976646
NM_152564.5(VPS13B):c.7985C>G (p.Ser2662Ter) rs1813585665
NM_152564.5(VPS13B):c.7986A>G (p.Ser2662=) rs2130785744
NM_152564.5(VPS13B):c.7989G>A (p.Glu2663=) rs2491976681
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter) rs2488084037
NM_152564.5(VPS13B):c.8007T>C (p.His2669=)
NM_152564.5(VPS13B):c.8015del (p.Thr2672fs) rs2491976835
NM_152564.5(VPS13B):c.8022T>C (p.Ile2674=) rs2491976851
NM_152564.5(VPS13B):c.8029del (p.Ile2677fs)
NM_152564.5(VPS13B):c.8032C>T (p.Gln2678Ter) rs2491976875
NM_152564.5(VPS13B):c.8035T>C (p.Tyr2679His) rs2491976885
NM_152564.5(VPS13B):c.803del (p.Asp268fs) rs1554622622
NM_152564.5(VPS13B):c.8040G>A (p.Arg2680=) rs145899918
NM_152564.5(VPS13B):c.8049T>A (p.Thr2683=) rs765550072
NM_152564.5(VPS13B):c.8058C>T (p.Leu2686=) rs1813589023
NM_152564.5(VPS13B):c.8060T>C (p.Ile2687Thr) rs2130785937
NM_152564.5(VPS13B):c.8068G>T (p.Val2690Phe) rs751700874
NM_152564.5(VPS13B):c.8070T>C (p.Val2690=) rs2130785985
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs) rs1813589674
NM_152564.5(VPS13B):c.8073G>A (p.Gln2691=) rs2130785995
NM_152564.5(VPS13B):c.8074C>G (p.Gln2692Glu) rs2491977008
NM_152564.5(VPS13B):c.8075A>C (p.Gln2692Pro) rs1588732177
NM_152564.5(VPS13B):c.8077C>T (p.Leu2693Phe) rs984666923
NM_152564.5(VPS13B):c.807A>G (p.Gln269=) rs775213704
NM_152564.5(VPS13B):c.8082T>C (p.Asn2694=)
NM_152564.5(VPS13B):c.8097+12del rs2491977082
NM_152564.5(VPS13B):c.8097+20T>C rs767428015
NM_152564.5(VPS13B):c.8097+7T>G rs2491977077
NM_152564.5(VPS13B):c.8098-19A>G rs752179001
NM_152564.5(VPS13B):c.8098-1G>C rs1554565484
NM_152564.5(VPS13B):c.8098-8T>A rs1814115973
NM_152564.5(VPS13B):c.8098-9G>A rs2492005375
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) rs1587912461
NM_152564.5(VPS13B):c.8107T>C (p.Cys2703Arg) rs2130810579
NM_152564.5(VPS13B):c.8109T>C (p.Cys2703=)
NM_152564.5(VPS13B):c.810A>G (p.Gln270=) rs1169945660
NM_152564.5(VPS13B):c.8121C>G (p.Ile2707Met) rs2492005572
NM_152564.5(VPS13B):c.8126G>A (p.Cys2709Tyr) rs2492005587
NM_152564.5(VPS13B):c.8133C>G (p.Tyr2711Ter) rs373542052
NM_152564.5(VPS13B):c.8136G>A (p.Leu2712=) rs2492005608
NM_152564.5(VPS13B):c.8140C>T (p.Gln2714Ter) rs1166109240
NM_152564.5(VPS13B):c.8142A>T (p.Gln2714His) rs2492005632
NM_152564.5(VPS13B):c.8143dup (p.Ser2715fs) rs2130810644
NM_152564.5(VPS13B):c.8160C>T (p.Val2720=) rs373348061
NM_152564.5(VPS13B):c.816T>C (p.Pro272=) rs746835975
NM_152564.5(VPS13B):c.816dup (p.Met273fs) rs1554622647
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs) rs1554565537
NM_152564.5(VPS13B):c.8172C>G (p.Tyr2724Ter)
NM_152564.5(VPS13B):c.817_818del (p.Met273fs) rs2132497770
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs) rs1554565558
NM_152564.5(VPS13B):c.8194del (p.Ala2731_Val2732insTer) rs2492005762
NM_152564.5(VPS13B):c.8205A>G (p.Glu2735=) rs1391859219
NM_152564.5(VPS13B):c.8206_8207dup (p.Phe2737fs) rs2492005783
NM_152564.5(VPS13B):c.8215dup (p.Cys2739fs) rs2492005812
NM_152564.5(VPS13B):c.821T>G (p.Phe274Cys) rs1847625470
NM_152564.5(VPS13B):c.8228A>G (p.Lys2743Arg) rs1814124093
NM_152564.5(VPS13B):c.8229A>G (p.Lys2743=) rs2130810840
NM_152564.5(VPS13B):c.8230C>T (p.Gln2744Ter) rs2130810847
NM_152564.5(VPS13B):c.8241T>C (p.Pro2747=)
NM_152564.5(VPS13B):c.8241T>G (p.Pro2747=)
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) rs180177370
NM_152564.5(VPS13B):c.8247C>T (p.Tyr2749=) rs2492005908
NM_152564.5(VPS13B):c.8250A>C (p.Ile2750=) rs1404661544
NM_152564.5(VPS13B):c.8253A>G (p.Leu2751=) rs2492005932
NM_152564.5(VPS13B):c.8254G>C (p.Glu2752Gln) rs2492005938
NM_152564.5(VPS13B):c.8262T>C (p.Asn2754=) rs2492005966
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer) rs386834111
NM_152564.5(VPS13B):c.8268G>A (p.Leu2756=) rs1204713346
NM_152564.5(VPS13B):c.8268G>C (p.Leu2756=) rs1204713346
NM_152564.5(VPS13B):c.8269A>G (p.Thr2757Ala) rs750066675
NM_152564.5(VPS13B):c.8274G>A (p.Glu2758=) rs2130810962
NM_152564.5(VPS13B):c.8277G>A (p.Leu2759=) rs1232285251
NM_152564.5(VPS13B):c.8277G>C (p.Leu2759=) rs1232285251
NM_152564.5(VPS13B):c.8281G>T (p.Val2761Leu) rs886062545
NM_152564.5(VPS13B):c.8285del (p.Lys2762fs) rs2492006068
NM_152564.5(VPS13B):c.8287del (p.Ala2763fs) rs1554565645
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.8300A>C (p.Glu2767Ala) rs778200857
NM_152564.5(VPS13B):c.8309C>A (p.Ser2770Ter)
NM_152564.5(VPS13B):c.8309C>G (p.Ser2770Ter) rs1563488907
NM_152564.5(VPS13B):c.8313A>G (p.Arg2771=) rs2492006218
NM_152564.5(VPS13B):c.8316T>C (p.Asp2772=) rs2492006236
NM_152564.5(VPS13B):c.8319G>A (p.Val2773=) rs2130811053
NM_152564.5(VPS13B):c.8323C>T (p.Leu2775=) rs1814130701
NM_152564.5(VPS13B):c.832A>T (p.Met278Leu) rs1401103611
NM_152564.5(VPS13B):c.8330C>T (p.Ser2777Phe) rs2130811098
NM_152564.5(VPS13B):c.8337C>A (p.Ala2779=) rs1177301291
NM_152564.5(VPS13B):c.8339C>G (p.Pro2780Arg) rs2492006326
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter) rs1379711249
NM_152564.5(VPS13B):c.8346C>T (p.Tyr2782=) rs2492006351
NM_152564.5(VPS13B):c.8346_8350del (p.Ser2783fs) rs2492006345
NM_152564.5(VPS13B):c.8347A>G (p.Ser2783Gly)
NM_152564.5(VPS13B):c.8352T>C (p.Ile2784=) rs1455898406
NM_152564.5(VPS13B):c.8355C>T (p.Val2785=) rs2492006400
NM_152564.5(VPS13B):c.8356A>G (p.Ile2786Val)
NM_152564.5(VPS13B):c.8357T>C (p.Ile2786Thr)
NM_152564.5(VPS13B):c.8361+15T>C rs1814133227
NM_152564.5(VPS13B):c.8361+18A>G rs1301774020
NM_152564.5(VPS13B):c.8362-1G>C rs2492008984
NM_152564.5(VPS13B):c.8362-5_8362-4del rs2130812960
NM_152564.5(VPS13B):c.8362-6G>A rs1294053663
NM_152564.5(VPS13B):c.8362-6G>T rs1294053663
NM_152564.5(VPS13B):c.8362-8A>C rs767065362
NM_152564.5(VPS13B):c.8362-8A>G rs767065362
NM_152564.5(VPS13B):c.8362-8A>T rs767065362
NM_152564.5(VPS13B):c.8362G>T (p.Val2788Leu) rs2492008987
NM_152564.5(VPS13B):c.8365C>T (p.Pro2789Ser) rs1814171272
NM_152564.5(VPS13B):c.8367A>G (p.Pro2789=) rs2130812995
NM_152564.5(VPS13B):c.8369C>T (p.Ser2790Phe) rs2492008995
NM_152564.5(VPS13B):c.8374A>G (p.Asn2792Asp)
NM_152564.5(VPS13B):c.8382C>G (p.Ser2794=) rs1350773456
NM_152564.5(VPS13B):c.8382C>T (p.Ser2794=) rs1350773456
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.8386dup (p.Ile2796fs) rs2492009076
NM_152564.5(VPS13B):c.8394C>A (p.Val2798=) rs2492009105
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8400C>T (p.Cys2800=)
NM_152564.5(VPS13B):c.8405T>C (p.Val2802Ala) rs1814173866
NM_152564.5(VPS13B):c.840T>G (p.Leu280=) rs2488689485
NM_152564.5(VPS13B):c.8414T>C (p.Leu2805Ser) rs1814174083
NM_152564.5(VPS13B):c.8420_8426delinsGA (p.Pro2807fs) rs2492009169
NM_152564.5(VPS13B):c.8421C>G (p.Pro2807=) rs1252949783
NM_152564.5(VPS13B):c.8421del (p.Asn2808fs) rs1588743576
NM_152564.5(VPS13B):c.8423A>T (p.Asn2808Ile) rs368357351
NM_152564.5(VPS13B):c.8430del (p.Val2811fs) rs2130813174
NM_152564.5(VPS13B):c.8435A>T (p.Gln2812Leu) rs1814175380
NM_152564.5(VPS13B):c.8437C>T (p.Gln2813Ter) rs2130813187
NM_152564.5(VPS13B):c.8439A>G (p.Gln2813=) rs773210498
NM_152564.5(VPS13B):c.8443A>G (p.Met2815Val) rs989835229
NM_152564.5(VPS13B):c.8444T>G (p.Met2815Arg) rs1427709841
NM_152564.5(VPS13B):c.8445+14C>T rs1814177467
NM_152564.5(VPS13B):c.8445+15A>C rs2492009326
NM_152564.5(VPS13B):c.8445+1G>C rs1814176579
NM_152564.5(VPS13B):c.8445+2T>C rs1554566396
NM_152564.5(VPS13B):c.8445+7G>A rs2130813249
NM_152564.5(VPS13B):c.8445+8C>G rs1814176818
NM_152564.5(VPS13B):c.8446-10A>C rs1009617201
NM_152564.5(VPS13B):c.8446-10_8446-6del rs773159446
NM_152564.5(VPS13B):c.8446-16C>G
NM_152564.5(VPS13B):c.8446-18A>G rs1381337695
NM_152564.5(VPS13B):c.8446-18_8446-14del rs767236603
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8446-5del rs760534492
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val) rs373961820
NM_152564.5(VPS13B):c.8447T>C (p.Ile2816Thr)
NM_152564.5(VPS13B):c.8460T>G (p.Pro2820=) rs750875099
NM_152564.5(VPS13B):c.8461_8462del (p.Leu2821fs) rs2130813849
NM_152564.5(VPS13B):c.8475_8477delinsTCA (p.Arg2825_Ser2826delinsSerHis) rs2492010350
NM_152564.5(VPS13B):c.8490C>A (p.Asp2830Glu) rs1814194580
NM_152564.5(VPS13B):c.8490C>T (p.Asp2830=) rs1814194580
NM_152564.5(VPS13B):c.8493C>G (p.Pro2831=) rs2492010442
NM_152564.5(VPS13B):c.8493C>T (p.Pro2831=) rs2492010442
NM_152564.5(VPS13B):c.8494_8495del (p.Ile2832fs) rs2130813916
NM_152564.5(VPS13B):c.8496del (p.Ile2833fs) rs2130813918
NM_152564.5(VPS13B):c.8499_8501del (p.Ile2834del) rs1554566693
NM_152564.5(VPS13B):c.849T>C (p.Ala283=) rs1563549019
NM_152564.5(VPS13B):c.8504A>G (p.His2835Arg) rs749180778
NM_152564.5(VPS13B):c.8505T>G (p.His2835Gln) rs1814195672
NM_152564.5(VPS13B):c.8505_8538dup (p.Gln2847delinsPheGlyGluLysGluSerGlyIleGluTer) rs2130813950
NM_152564.5(VPS13B):c.8512A>T (p.Lys2838Ter)
NM_152564.5(VPS13B):c.8521C>T (p.Leu2841=) rs2130813974
NM_152564.5(VPS13B):c.8522dup (p.Leu2843fs) rs2492010569
NM_152564.5(VPS13B):c.8527T>C (p.Leu2843=) rs778838868
NM_152564.5(VPS13B):c.852T>C (p.Leu284=)
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs) rs386834114
NM_152564.5(VPS13B):c.8550A>G (p.Pro2850=) rs1052125514
NM_152564.5(VPS13B):c.8553A>G (p.Gly2851=) rs2492010722
NM_152564.5(VPS13B):c.8556A>G (p.Lys2852=) rs2492010727
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.855C>A (p.Tyr285Ter) rs1256482530
NM_152564.5(VPS13B):c.855C>T (p.Tyr285=) rs1256482530
NM_152564.5(VPS13B):c.8560C>T (p.Gln2854Ter) rs2130814064
NM_152564.5(VPS13B):c.8575C>T (p.Gln2859Ter)
NM_152564.5(VPS13B):c.8581A>G (p.Ile2861Val) rs2492010809
NM_152564.5(VPS13B):c.8592C>T (p.Asp2864=) rs1266484514
NM_152564.5(VPS13B):c.8593C>G (p.Leu2865Val) rs1814199572
NM_152564.5(VPS13B):c.8593C>T (p.Leu2865Phe) rs1814199572
NM_152564.5(VPS13B):c.8595T>G (p.Leu2865=) rs761233089
NM_152564.5(VPS13B):c.8604C>T (p.His2868=) rs2130814192
NM_152564.5(VPS13B):c.8605C>G (p.Leu2869Val) rs1448710192
NM_152564.5(VPS13B):c.8610A>G (p.Thr2870=) rs2130814206
NM_152564.5(VPS13B):c.8614C>A (p.Gln2872Lys) rs2130814214
NM_152564.5(VPS13B):c.861A>C (p.Gly287=) rs2132497926
NM_152564.5(VPS13B):c.861A>G (p.Gly287=) rs2132497926
NM_152564.5(VPS13B):c.8621+13T>G
NM_152564.5(VPS13B):c.8621+14C>A rs1201258654
NM_152564.5(VPS13B):c.8621+15C>T rs2492011028
NM_152564.5(VPS13B):c.8621+17T>C
NM_152564.5(VPS13B):c.8621+2T>G rs1057517236
NM_152564.5(VPS13B):c.8621+4C>T rs1563489649
NM_152564.5(VPS13B):c.8622-10A>C rs2492013733
NM_152564.5(VPS13B):c.8622-11C>A rs1814235343
NM_152564.5(VPS13B):c.8622-1G>A
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.8622-6T>G rs1814235683
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.8625A>G (p.Glu2875=) rs776161364
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter) rs747644844
NM_152564.5(VPS13B):c.8628A>G (p.Glu2876=) rs1814236267
NM_152564.5(VPS13B):c.862G>A (p.Glu288Lys) rs2488689585
NM_152564.5(VPS13B):c.8631T>C (p.Tyr2877=) rs2130815899
NM_152564.5(VPS13B):c.8633A>T (p.Asp2878Val) rs1563490033
NM_152564.5(VPS13B):c.8637T>G (p.Pro2879=) rs150836518
NM_152564.5(VPS13B):c.8643T>C (p.Asp2881=) rs1814237004
NM_152564.5(VPS13B):c.8646T>C (p.Cys2882=) rs2492013802
NM_152564.5(VPS13B):c.8654C>T (p.Pro2885Leu) rs2492013824
NM_152564.5(VPS13B):c.8655C>T (p.Pro2885=) rs2492013828
NM_152564.5(VPS13B):c.865del (p.Glu288_Ile289insTer) rs2132497933
NM_152564.5(VPS13B):c.8664A>G (p.Thr2888=) rs760964711
NM_152564.5(VPS13B):c.8667C>T (p.Ser2889=) rs1814238060
NM_152564.5(VPS13B):c.8671A>G (p.Ile2891Val) rs1814238254
NM_152564.5(VPS13B):c.8679A>G (p.Gln2893=)
NM_152564.5(VPS13B):c.8692G>A (p.Val2898Ile) rs200611924
NM_152564.5(VPS13B):c.8694A>T (p.Val2898=) rs1482608670
NM_152564.5(VPS13B):c.8697C>A (p.His2899Gln) rs375911218
NM_152564.5(VPS13B):c.8703A>G (p.Gly2901=) rs1588744960
NM_152564.5(VPS13B):c.8706C>T (p.Gly2902=) rs2130816101
NM_152564.5(VPS13B):c.8709A>G (p.Thr2903=) rs765352584
NM_152564.5(VPS13B):c.8709A>T (p.Thr2903=) rs765352584
NM_152564.5(VPS13B):c.870C>A (p.Gly290=) rs757250316
NM_152564.5(VPS13B):c.8710del (p.Val2904fs) rs2492013977
NM_152564.5(VPS13B):c.8716C>T (p.Gln2906Ter)
NM_152564.5(VPS13B):c.8718G>A (p.Gln2906=) rs2492014002
NM_152564.5(VPS13B):c.8719A>C (p.Ile2907Leu) rs1462824433
NM_152564.5(VPS13B):c.8721C>A (p.Ile2907=) rs746757461
NM_152564.5(VPS13B):c.8730A>G (p.Glu2910=) rs1814241089
NM_152564.5(VPS13B):c.8733C>A (p.Phe2911Leu) rs1027859307
NM_152564.5(VPS13B):c.8733C>T (p.Phe2911=) rs1027859307
NM_152564.5(VPS13B):c.8739G>C (p.Gly2913=)
NM_152564.5(VPS13B):c.8739G>T (p.Gly2913=) rs797046097
NM_152564.5(VPS13B):c.8741_8756del (p.Pro2914fs) rs2492014077
NM_152564.5(VPS13B):c.8745A>G (p.Glu2915=) rs2492014080
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val) rs779095081
NM_152564.5(VPS13B):c.8750C>A (p.Ser2917Ter) rs139732310
NM_152564.5(VPS13B):c.8750C>G (p.Ser2917Trp) rs139732310
NM_152564.5(VPS13B):c.8751G>T (p.Ser2917=) rs775883776
NM_152564.5(VPS13B):c.8755C>A (p.Gln2919Lys) rs1342501390
NM_152564.5(VPS13B):c.8761A>G (p.Ile2921Val) rs1186055300
NM_152564.5(VPS13B):c.8766G>A (p.Trp2922Ter) rs2130816341
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8779A>G (p.Lys2927Glu) rs2492014247
NM_152564.5(VPS13B):c.8784T>C (p.Asp2928=) rs1814246472
NM_152564.5(VPS13B):c.8786C>A (p.Ser2929Tyr) rs2492014271
NM_152564.5(VPS13B):c.8787T>C (p.Ser2929=) rs1588745102
NM_152564.5(VPS13B):c.8792+11T>C rs765299191
NM_152564.5(VPS13B):c.8792+15T>C rs2492014350
NM_152564.5(VPS13B):c.8792+17A>G rs2492014369
NM_152564.5(VPS13B):c.8792+19C>G rs2130816510
NM_152564.5(VPS13B):c.8792+24dup rs1408498101
NM_152564.5(VPS13B):c.8793-16G>T rs1454120026
NM_152564.5(VPS13B):c.8793-19G>A rs2492015577
NM_152564.5(VPS13B):c.8793-2A>G rs766409208
NM_152564.5(VPS13B):c.8793-6del rs756641209
NM_152564.5(VPS13B):c.8793-7G>A rs886062547
NM_152564.5(VPS13B):c.8793-7_8793-6delinsT rs756641209
NM_152564.5(VPS13B):c.8793-8T>C rs1563490351
NM_152564.5(VPS13B):c.8796T>A (p.Asn2932Lys) rs1814270562
NM_152564.5(VPS13B):c.8796T>C (p.Asn2932=) rs1814270562
NM_152564.5(VPS13B):c.8797G>A (p.Glu2933Lys) rs1814270658
NM_152564.5(VPS13B):c.87A>G (p.Ser29=) rs1190769527
NM_152564.5(VPS13B):c.8827C>A (p.Arg2943=) rs755996065
NM_152564.5(VPS13B):c.8828G>T (p.Arg2943Leu) rs777528760
NM_152564.5(VPS13B):c.882A>G (p.Glu294=) rs2488689654
NM_152564.5(VPS13B):c.8836C>T (p.Leu2946=) rs753585905
NM_152564.5(VPS13B):c.884G>A (p.Gly295Asp) rs1847627643
NM_152564.5(VPS13B):c.8850G>A (p.Lys2950=) rs2130817562
NM_152564.5(VPS13B):c.8851C>A (p.Pro2951Thr) rs2492015900
NM_152564.5(VPS13B):c.8853A>G (p.Pro2951=) rs147187040
NM_152564.5(VPS13B):c.8853A>T (p.Pro2951=) rs147187040
NM_152564.5(VPS13B):c.8855_8856del (p.Tyr2952fs) rs2130817575
NM_152564.5(VPS13B):c.8856T>C (p.Tyr2952=)
NM_152564.5(VPS13B):c.8859_8862dup (p.Thr2955Ter) rs2130817608
NM_152564.5(VPS13B):c.8866T>G (p.Leu2956Val) rs1814273513
NM_152564.5(VPS13B):c.8868G>A (p.Leu2956=) rs2492015985
NM_152564.5(VPS13B):c.8870T>C (p.Leu2957Ser) rs727504219
NM_152564.5(VPS13B):c.8871G>A (p.Leu2957=) rs2492016005
NM_152564.5(VPS13B):c.8883G>A (p.Leu2961=) rs2492016027
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs) rs1057516845
NM_152564.5(VPS13B):c.8886C>T (p.Pro2962=) rs2492016041
NM_152564.5(VPS13B):c.8893C>T (p.Leu2965=) rs2492016073
NM_152564.5(VPS13B):c.8895G>C (p.Leu2965=) rs1423890336
NM_152564.5(VPS13B):c.8898T>C (p.Leu2966=) rs1814274543
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer) rs1554622718
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter) rs797046098
NM_152564.5(VPS13B):c.8920C>A (p.Leu2974Ile) rs2492016161
NM_152564.5(VPS13B):c.8928A>G (p.Leu2976=) rs1814275776
NM_152564.5(VPS13B):c.8937A>G (p.Gly2979=) rs2492016189
NM_152564.5(VPS13B):c.8940G>C (p.Glu2980Asp) rs1814276106
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter) rs1057516558
NM_152564.5(VPS13B):c.8955G>A (p.Gln2985=) rs764033533
NM_152564.5(VPS13B):c.895G>A (p.Asp299Asn) rs758289182
NM_152564.5(VPS13B):c.8961T>G (p.Pro2987=) rs2130817807
NM_152564.5(VPS13B):c.8965G>A (p.Gly2989Ser) rs1814277192
NM_152564.5(VPS13B):c.8965G>T (p.Gly2989Cys) rs1814277192
NM_152564.5(VPS13B):c.896del (p.Asp299fs) rs2132498049
NM_152564.5(VPS13B):c.8980C>T (p.Pro2994Ser) rs1814277690
NM_152564.5(VPS13B):c.8981C>T (p.Pro2994Leu) rs913607878
NM_152564.5(VPS13B):c.8983C>A (p.Pro2995Thr) rs1180231209
NM_152564.5(VPS13B):c.8983C>T (p.Pro2995Ser) rs1180231209
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs) rs1057516276
NM_152564.5(VPS13B):c.8994+10del rs1814278500
NM_152564.5(VPS13B):c.8994+14T>C rs946368345
NM_152564.5(VPS13B):c.8994+16del rs779535734
NM_152564.5(VPS13B):c.8994+16dup rs779535734
NM_152564.5(VPS13B):c.8994+18A>G rs757945419
NM_152564.5(VPS13B):c.8994+20T>G rs2492016413
NM_152564.5(VPS13B):c.8994+6A>G rs2130817893
NM_152564.5(VPS13B):c.8995-10A>C rs2492020246
NM_152564.5(VPS13B):c.8995-13A>C rs775546757
NM_152564.5(VPS13B):c.8995-13A>T rs775546757
NM_152564.5(VPS13B):c.8995-14C>G rs952570347
NM_152564.5(VPS13B):c.8995-14C>T rs952570347
NM_152564.5(VPS13B):c.8995-16G>T rs772319312
NM_152564.5(VPS13B):c.8995-1G>A rs2492020273
NM_152564.5(VPS13B):c.8995-20T>A rs369677009
NM_152564.5(VPS13B):c.8995-20T>C rs369677009
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.8995-4C>T rs2130821868
NM_152564.5(VPS13B):c.8997A>G (p.Glu2999=) rs2130821884
NM_152564.5(VPS13B):c.8999C>G (p.Ala3000Gly) rs2492020283
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs) rs1057516538
NM_152564.5(VPS13B):c.900T>A (p.Leu300=) rs2132498081
NM_152564.5(VPS13B):c.900T>G (p.Leu300=) rs2132498081
NM_152564.5(VPS13B):c.9019T>G (p.Trp3007Gly) rs2492020335
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9023C>T (p.Ala3008Val) rs6992059
NM_152564.5(VPS13B):c.9029C>A (p.Thr3010Lys) rs2492020361
NM_152564.5(VPS13B):c.902C>G (p.Thr301Ser) rs1847628494
NM_152564.5(VPS13B):c.9033C>T (p.Asn3011=) rs1814357255
NM_152564.5(VPS13B):c.9036T>C (p.Thr3012=) rs2492020383
NM_152564.5(VPS13B):c.9048A>C (p.Ser3016=) rs764745288
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=) rs2492020472
NM_152564.5(VPS13B):c.9068A>G (p.His3023Arg) rs755304703
NM_152564.5(VPS13B):c.9075G>A (p.Leu3025=) rs1006898232
NM_152564.5(VPS13B):c.907C>G (p.His303Asp) rs1847628600
NM_152564.5(VPS13B):c.9089G>A (p.Trp3030Ter) rs151159090
NM_152564.5(VPS13B):c.9090G>A (p.Trp3030Ter) rs1814359696
NM_152564.5(VPS13B):c.9105T>C (p.Asn3035=) rs2492020621
NM_152564.5(VPS13B):c.9111A>G (p.Glu3037=) rs2130822154
NM_152564.5(VPS13B):c.9117G>A (p.Val3039=) rs1814360643
NM_152564.5(VPS13B):c.9142G>A (p.Asp3048Asn) rs1480540038
NM_152564.5(VPS13B):c.9143A>G (p.Asp3048Gly) rs2130822238
NM_152564.5(VPS13B):c.9147T>C (p.Thr3049=) rs2130822258
NM_152564.5(VPS13B):c.9148G>A (p.Glu3050Lys) rs1178024733
NM_152564.5(VPS13B):c.9153A>T (p.Ile3051=) rs1588747487
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
NM_152564.5(VPS13B):c.9183+14C>G
NM_152564.5(VPS13B):c.9183+1G>A rs2130822351
NM_152564.5(VPS13B):c.9183+2T>G rs2492020910
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 rs2492027340
NM_152564.5(VPS13B):c.9184-17T>C
NM_152564.5(VPS13B):c.9184-1G>A rs1436832739
NM_152564.5(VPS13B):c.9184-2A>G rs2492027408
NM_152564.5(VPS13B):c.9184-2_9184del rs1057516807
NM_152564.5(VPS13B):c.9184-9A>G rs2130828655
NM_152564.5(VPS13B):c.9184-9A>T rs2130828655
NM_152564.5(VPS13B):c.9184-9_9184-5del rs2492027366
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9186A>T (p.Leu3062Phe) rs984224710
NM_152564.5(VPS13B):c.918T>C (p.Asp306=) rs2132498147
NM_152564.5(VPS13B):c.9193T>C (p.Phe3065Leu) rs2492027448
NM_152564.5(VPS13B):c.9204C>T (p.Ser3068=) rs2492027483
NM_152564.5(VPS13B):c.9206C>T (p.Ser3069Phe) rs1814517169
NM_152564.5(VPS13B):c.9208A>G (p.Met3070Val) rs1386338109
NM_152564.5(VPS13B):c.9220G>A (p.Gly3074Ser) rs762740344
NM_152564.5(VPS13B):c.9222T>A (p.Gly3074=) rs2492027530
NM_152564.5(VPS13B):c.9226C>T (p.Gln3076Ter)
NM_152564.5(VPS13B):c.9231T>C (p.Ile3077=) rs958907037
NM_152564.5(VPS13B):c.9234T>C (p.Ile3078=) rs2130828791
NM_152564.5(VPS13B):c.9240T>C (p.Ile3080=) rs1814518647
NM_152564.5(VPS13B):c.9242A>G (p.Glu3081Gly) rs1814518745
NM_152564.5(VPS13B):c.9245A>G (p.Asp3082Gly) rs1563492523
NM_152564.5(VPS13B):c.9255A>G (p.Thr3085=) rs2130828848
NM_152564.5(VPS13B):c.9261C>T (p.Ile3087=) rs2492027664
NM_152564.5(VPS13B):c.9261_9267del (p.Asn3088fs) rs2492027647
NM_152564.5(VPS13B):c.9263A>G (p.Asn3088Ser) rs1814519813
NM_152564.5(VPS13B):c.9267T>C (p.Asn3089=) rs886062548
NM_152564.5(VPS13B):c.9268A>G (p.Thr3090Ala) rs2130828886
NM_152564.5(VPS13B):c.926G>A (p.Gly309Glu) rs1450293713
NM_152564.5(VPS13B):c.9273A>G (p.Pro3091=) rs1345326650
NM_152564.5(VPS13B):c.9276T>C (p.Tyr3092=) rs2130828917
NM_152564.5(VPS13B):c.9280del (p.Ile3094fs) rs2492027730
NM_152564.5(VPS13B):c.9283T>G (p.Phe3095Val) rs1814520891
NM_152564.5(VPS13B):c.9293C>A (p.Pro3098Gln) rs917260056
NM_152564.5(VPS13B):c.9293_9295dup (p.Pro3098dup) rs1182385860
NM_152564.5(VPS13B):c.9294A>C (p.Pro3098=) rs2492027776
NM_152564.5(VPS13B):c.9300A>G (p.Leu3100=) rs143974238
NM_152564.5(VPS13B):c.9300A>T (p.Leu3100=) rs143974238
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9306C>T (p.Val3102=) rs1814522514
NM_152564.5(VPS13B):c.9309C>T (p.Cys3103=) rs2492027812
NM_152564.5(VPS13B):c.9312T>C (p.Asn3104=) rs1372853181
NM_152564.5(VPS13B):c.9314C>T (p.Pro3105Leu) rs1169875086
NM_152564.5(VPS13B):c.9327G>A (p.Lys3109=) rs2492027850
NM_152564.5(VPS13B):c.9330+12A>G rs977224048
NM_152564.5(VPS13B):c.9330+13T>C rs2492027942
NM_152564.5(VPS13B):c.9330+16C>A rs773972142
NM_152564.5(VPS13B):c.9330+16C>G rs773972142
NM_152564.5(VPS13B):c.9330+16C>T rs773972142
NM_152564.5(VPS13B):c.9330+17G>T rs375248298
NM_152564.5(VPS13B):c.9330+1G>C rs756013171
NM_152564.5(VPS13B):c.9330+2T>C rs1554570388
NM_152564.5(VPS13B):c.9330+8A>T rs2492027891
NM_152564.5(VPS13B):c.9331-10T>C rs2492091481
NM_152564.5(VPS13B):c.9331-12_9331-3del rs370235149
NM_152564.5(VPS13B):c.9331-14_9331-3del rs370235149
NM_152564.5(VPS13B):c.9331-15_9331-3del rs370235149
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>C rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT rs2492092129
NM_152564.5(VPS13B):c.9331-21_9331-3del rs370235149
NM_152564.5(VPS13B):c.9331-25_9331-3dup
NM_152564.5(VPS13B):c.9331-2_9331-1del rs764288792
NM_152564.5(VPS13B):c.9331-2del
NM_152564.5(VPS13B):c.9331-3T>C
NM_152564.5(VPS13B):c.9331-3_9331-2insTTTTTTTTTTTGTTTTTT rs2492091623
NM_152564.5(VPS13B):c.9331-3_9331-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_152564.5(VPS13B):c.9331-4T>G rs2130857623
NM_152564.5(VPS13B):c.9331-6_9331-3dup
NM_152564.5(VPS13B):c.9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331-99_9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331-9T>G rs2492091556
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs) rs757435621
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe) rs199704158
NM_152564.5(VPS13B):c.9333T>C (p.Tyr3111=) rs1563497733
NM_152564.5(VPS13B):c.9333T>G (p.Tyr3111Ter) rs1563497733
NM_152564.5(VPS13B):c.9337C>T (p.Arg3113Cys) rs766896327
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525
NM_152564.5(VPS13B):c.9340G>T (p.Val3114Phe) rs752763935
NM_152564.5(VPS13B):c.9345A>G (p.Pro3115=) rs2130857838
NM_152564.5(VPS13B):c.9348C>T (p.Asp3116=) rs2130857844
NM_152564.5(VPS13B):c.9354T>A (p.Ala3118=) rs2492092775
NM_152564.5(VPS13B):c.9355A>G (p.Thr3119Ala) rs749275008
NM_152564.5(VPS13B):c.9359T>C (p.Phe3120Ser) rs1490268361
NM_152564.5(VPS13B):c.937+10A>T rs2488690111
NM_152564.5(VPS13B):c.937+15T>A rs2488690139
NM_152564.5(VPS13B):c.937+16A>G rs549025939
NM_152564.5(VPS13B):c.937+1G>A rs2488689997
NM_152564.5(VPS13B):c.937+4A>G rs747875300
NM_152564.5(VPS13B):c.937+6G>A rs2132498266
NM_152564.5(VPS13B):c.937+7T>C rs2488690072
NM_152564.5(VPS13B):c.9370C>T (p.Pro3124Ser) rs771701590
NM_152564.5(VPS13B):c.9377G>A (p.Gly3126Glu) rs2130857969
NM_152564.5(VPS13B):c.9378A>G (p.Gly3126=)
NM_152564.5(VPS13B):c.938-17T>C rs779953161
NM_152564.5(VPS13B):c.938-17T>G rs779953161
NM_152564.5(VPS13B):c.938-17_938-16del rs2488709898
NM_152564.5(VPS13B):c.938-19A>G rs2488709856
NM_152564.5(VPS13B):c.938-1G>C rs2132515671
NM_152564.5(VPS13B):c.938-8A>G rs1230029599
NM_152564.5(VPS13B):c.9381G>A (p.Glu3127=) rs775030540
NM_152564.5(VPS13B):c.9384G>A (p.Gln3128=) rs267601673
NM_152564.5(VPS13B):c.9388G>A (p.Ala3130Thr) rs2130858010
NM_152564.5(VPS13B):c.9388G>C (p.Ala3130Pro) rs2130858010
NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter) rs2492093289
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152564.5(VPS13B):c.939T>C (p.Gly313=) rs2132515681
NM_152564.5(VPS13B):c.9405C>A (p.Ser3135=) rs2130858063
NM_152564.5(VPS13B):c.9406C>T (p.Leu3136Phe) rs1815131065
NM_152564.5(VPS13B):c.9408T>C (p.Leu3136=) rs2492093438
NM_152564.5(VPS13B):c.9409C>G (p.Pro3137Ala) rs553756124
NM_152564.5(VPS13B):c.9411T>G (p.Pro3137=) rs2130858097
NM_152564.5(VPS13B):c.9416G>A (p.Trp3139Ter) rs1563497844
NM_152564.5(VPS13B):c.9429T>G (p.Pro3143=) rs2130858135
NM_152564.5(VPS13B):c.9432C>T (p.Asp3144=)
NM_152564.5(VPS13B):c.9440A>C (p.Gln3147Pro) rs1251314702
NM_152564.5(VPS13B):c.9444A>G (p.Ser3148=) rs1419669701
NM_152564.5(VPS13B):c.9448del (p.Leu3150fs) rs2492093854
NM_152564.5(VPS13B):c.9463C>T (p.Leu3155Phe) rs1588761583
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9492T>G (p.Ser3164=) rs36074608
NM_152564.5(VPS13B):c.9493C>T (p.Pro3165Ser) rs769465745
NM_152564.5(VPS13B):c.9497C>A (p.Ala3166Asp)
NM_152564.5(VPS13B):c.9498C>G (p.Ala3166=) rs779729182
NM_152564.5(VPS13B):c.9498C>T (p.Ala3166=) rs779729182
NM_152564.5(VPS13B):c.9500C>T (p.Pro3167Leu) rs1815137390
NM_152564.5(VPS13B):c.9501A>G (p.Pro3167=) rs1448281466
NM_152564.5(VPS13B):c.9503G>A (p.Gly3168Asp) rs1815137954
NM_152564.5(VPS13B):c.9504T>C (p.Gly3168=) rs2492094551
NM_152564.5(VPS13B):c.9510C>T (p.Asp3170=)
NM_152564.5(VPS13B):c.9513C>G (p.Ser3171Arg) rs2130858288
NM_152564.5(VPS13B):c.9513C>T (p.Ser3171=) rs2130858288
NM_152564.5(VPS13B):c.9515C>G (p.Ser3172Ter)
NM_152564.5(VPS13B):c.9517C>T (p.Gln3173Ter) rs1554573990
NM_152564.5(VPS13B):c.9517del (p.Gln3173fs)
NM_152564.5(VPS13B):c.9525G>A (p.Trp3175Ter) rs2130858310
NM_152564.5(VPS13B):c.9528C>G (p.Ser3176Arg) rs771505935
NM_152564.5(VPS13B):c.9529C>T (p.Leu3177=) rs2492094756
NM_152564.5(VPS13B):c.9535G>T (p.Ala3179Ser) rs2130858328
NM_152564.5(VPS13B):c.9537_9540dup (p.Val3181fs) rs2130858335
NM_152564.5(VPS13B):c.9539T>C (p.Ile3180Thr) rs1252041105
NM_152564.5(VPS13B):c.9544A>T (p.Arg3182Ter)
NM_152564.5(VPS13B):c.9558C>T (p.Pro3186=) rs2492095182
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9563dup (p.Ser3189fs) rs2130858386
NM_152564.5(VPS13B):c.9565_9566del (p.Ser3189fs) rs2492095273
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.9584G>T (p.Gly3195Val) rs1815141428
NM_152564.5(VPS13B):c.9585G>T (p.Gly3195=) rs1334078728
NM_152564.5(VPS13B):c.9594G>A (p.Arg3198=) rs2130858464
NM_152564.5(VPS13B):c.95del (p.Gly32fs) rs2488084191
NM_152564.5(VPS13B):c.9608G>A (p.Cys3203Tyr) rs747611342
NM_152564.5(VPS13B):c.9612C>G (p.Thr3204=) rs2130858506
NM_152564.5(VPS13B):c.9614+13TA[4]
NM_152564.5(VPS13B):c.9614+1G>T rs1057517168
NM_152564.5(VPS13B):c.9614+8_9614+10del rs2492096560
NM_152564.5(VPS13B):c.9614+8_9614+9del rs2492096496
NM_152564.5(VPS13B):c.9615-12A>G rs2492119231
NM_152564.5(VPS13B):c.9615-15T>C rs2492119137
NM_152564.5(VPS13B):c.9615-17A>T rs2492119096
NM_152564.5(VPS13B):c.9615-1G>A rs2130865334
NM_152564.5(VPS13B):c.9615-2A>C rs386834120
NM_152564.5(VPS13B):c.9615-2A>G rs386834120
NM_152564.5(VPS13B):c.9615G>T (p.Arg3205Ser) rs2492119402
NM_152564.5(VPS13B):c.9619A>G (p.Ile3207Val) rs1489103184
NM_152564.5(VPS13B):c.9623T>C (p.Val3208Ala) rs1563499365
NM_152564.5(VPS13B):c.9627G>A (p.Leu3209=) rs2492119533
NM_152564.5(VPS13B):c.9630A>C (p.Thr3210=) rs2492119563
NM_152564.5(VPS13B):c.9630A>G (p.Thr3210=) rs2492119563
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs) rs386834121
NM_152564.5(VPS13B):c.9633T>C (p.Tyr3211=) rs980028099
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter) rs1563499381
NM_152564.5(VPS13B):c.9639del (p.Glu3213fs) rs1815323043
NM_152564.5(VPS13B):c.9655T>C (p.Tyr3219His) rs2130865452
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs) rs386834122
NM_152564.5(VPS13B):c.9669A>C (p.Ser3223=)
NM_152564.5(VPS13B):c.9675C>T (p.Asp3225=) rs2130865492
NM_152564.5(VPS13B):c.9682C>A (p.Pro3228Thr) rs1563499426
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.968A>G (p.Gln323Arg) rs1847916430
NM_152564.5(VPS13B):c.9693T>C (p.Ile3231=) rs2130865538
NM_152564.5(VPS13B):c.9696C>A (p.Ile3232=) rs1348521177
NM_152564.5(VPS13B):c.9696C>T (p.Ile3232=) rs1348521177
NM_152564.5(VPS13B):c.9697C>G (p.His3233Asp) rs1815326772
NM_152564.5(VPS13B):c.9697_9700delinsAAG (p.His3233fs) rs2492120101
NM_152564.5(VPS13B):c.9699C>A (p.His3233Gln) rs2492120114
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs) rs2130865566
NM_152564.5(VPS13B):c.9703A>C (p.Arg3235=) rs2492120173
NM_152564.5(VPS13B):c.9705A>G (p.Arg3235=) rs1286562705
NM_152564.5(VPS13B):c.9706T>C (p.Cys3236Arg) rs1815327230
NM_152564.5(VPS13B):c.9708T>C (p.Cys3236=) rs2492120248
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.971A>G (p.Tyr324Cys) rs2488710077
NM_152564.5(VPS13B):c.9720G>A (p.Met3240Ile)
NM_152564.5(VPS13B):c.9723T>C (p.Leu3241=) rs2492120389
NM_152564.5(VPS13B):c.9735C>T (p.Asn3245=) rs766177887
NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter) rs2492120455
NM_152564.5(VPS13B):c.973C>G (p.Pro325Ala) rs1161857930
NM_152564.5(VPS13B):c.9742+11T>A
NM_152564.5(VPS13B):c.9742+13C>G rs112919682
NM_152564.5(VPS13B):c.9742+13C>T rs112919682
NM_152564.5(VPS13B):c.9742+16T>C rs2492120666
NM_152564.5(VPS13B):c.9742+1G>A rs759374475
NM_152564.5(VPS13B):c.9742+1G>T rs759374475
NM_152564.5(VPS13B):c.9742+20A>G
NM_152564.5(VPS13B):c.9742+20del
NM_152564.5(VPS13B):c.9742+2T>C rs1434569440
NM_152564.5(VPS13B):c.9742+5G>A rs752394744
NM_152564.5(VPS13B):c.9742+8T>A rs2130865683
NM_152564.5(VPS13B):c.9742+9dup rs2492120554
NM_152564.5(VPS13B):c.9742G>A (p.Asp3248Asn) rs774374731
NM_152564.5(VPS13B):c.9743-16T>G rs2492122923
NM_152564.5(VPS13B):c.9743-17C>T rs2492122909
NM_152564.5(VPS13B):c.9743-2A>C rs1815345770
NM_152564.5(VPS13B):c.9743-4T>G rs1450351706
NM_152564.5(VPS13B):c.9743-5_9744del rs2492123019
NM_152564.5(VPS13B):c.9743-8A>C rs753570285
NM_152564.5(VPS13B):c.9743-9A>T rs2130866268
NM_152564.5(VPS13B):c.9745del (p.Ile3249fs) rs2492123085
NM_152564.5(VPS13B):c.9753G>A (p.Lys3251=) rs985127178
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs) rs768801125
NM_152564.5(VPS13B):c.975T>G (p.Pro325=) rs1554625544
NM_152564.5(VPS13B):c.9760G>A (p.Val3254Ile) rs1259417083
NM_152564.5(VPS13B):c.9765T>C (p.Tyr3255=) rs1203586505
NM_152564.5(VPS13B):c.9775A>C (p.Ile3259Leu) rs1425945549
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.9776T>C (p.Ile3259Thr) rs1815347853
NM_152564.5(VPS13B):c.9782C>G (p.Ser3261Cys) rs1372759268
NM_152564.5(VPS13B):c.9783C>A (p.Ser3261=) rs147242148
NM_152564.5(VPS13B):c.9789C>T (p.Cys3263=)
NM_152564.5(VPS13B):c.9791C>A (p.Ser3264Ter)
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter) rs1205613982
NM_152564.5(VPS13B):c.981G>A (p.Gln327=) rs776139646
NM_152564.5(VPS13B):c.9822C>T (p.Ser3274=) rs1332985689
NM_152564.5(VPS13B):c.9824G>T (p.Ser3275Ile) rs1815351031
NM_152564.5(VPS13B):c.9827A>T (p.Tyr3276Phe) rs563162284
NM_152564.5(VPS13B):c.9828T>C (p.Tyr3276=) rs2492123718
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs) rs1057516568
NM_152564.5(VPS13B):c.9832G>C (p.Asp3278His) rs2492123769
NM_152564.5(VPS13B):c.9843_9862del (p.Lys3282fs) rs2130866580
NM_152564.5(VPS13B):c.9858A>G (p.Pro3286=) rs2130866649
NM_152564.5(VPS13B):c.9860G>A (p.Ser3287Asn) rs2492123976
NM_152564.5(VPS13B):c.986A>C (p.Lys329Thr) rs1195441250
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs) rs1057516614
NM_152564.5(VPS13B):c.988G>A (p.Gly330Ser) rs2488710165
NM_152564.5(VPS13B):c.9891_9892insCCTCTAGA (p.Val3298fs) rs2130866708
NM_152564.5(VPS13B):c.9905G>A (p.Trp3302Ter) rs2130866735
NM_152564.5(VPS13B):c.9911A>G (p.Asp3304Gly) rs2130866768
NM_152564.5(VPS13B):c.9915C>A (p.Ala3305=) rs937240694
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs) rs1554575679
NM_152564.5(VPS13B):c.9927C>T (p.Asn3309=) rs2492124495
NM_152564.5(VPS13B):c.9933G>A (p.Gln3311=) rs2130866834
NM_152564.5(VPS13B):c.9934_9942+5del rs1554575693
NM_152564.5(VPS13B):c.9938dup (p.Gln3314fs) rs2492124610
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9942+12A>G rs2492124818
NM_152564.5(VPS13B):c.9942+17T>A rs1815358634
NM_152564.5(VPS13B):c.9942+1G>A rs1057517063
NM_152564.5(VPS13B):c.9942+1G>T rs1057517063
NM_152564.5(VPS13B):c.9942+4A>C rs772319548
NM_152564.5(VPS13B):c.9942+4A>G rs772319548
NM_152564.5(VPS13B):c.9942+7G>A rs528134335
NM_152564.5(VPS13B):c.9942+9G>A rs942110632
NM_152564.5(VPS13B):c.9943-11T>C rs1816110809
NM_152564.5(VPS13B):c.9943-11T>G rs1816110809
NM_152564.5(VPS13B):c.9943-16A>G
NM_152564.5(VPS13B):c.9943-17G>T rs2492202439
NM_152564.5(VPS13B):c.9943-1G>A rs2492202628
NM_152564.5(VPS13B):c.9943-2A>G rs1816111137
NM_152564.5(VPS13B):c.9943-4G>T rs2130902382
NM_152564.5(VPS13B):c.9943-7T>C rs2492202549
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe) rs116746734
NM_152564.5(VPS13B):c.9945T>G (p.Val3315=) rs1479709334
NM_152564.5(VPS13B):c.994G>C (p.Glu332Gln) rs2488710194
NM_152564.5(VPS13B):c.9967dup (p.Tyr3323fs)
NM_152564.5(VPS13B):c.997T>C (p.Leu333=) rs1308663553
NM_152564.5(VPS13B):c.9981T>C (p.Asp3327=) rs781011173
NM_152564.5(VPS13B):c.9985G>C (p.Val3329Leu) rs77308610
NM_152564.5(VPS13B):c.998T>A (p.Leu333Ter)
NM_152564.5(VPS13B):c.999A>G (p.Leu333=) rs762085583
NM_152564.5(VPS13B):c.9G>A (p.Glu3=) rs2488083506
NM_152564.5(VPS13B):c.[1044G>A;8916G>A]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.