Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.99769013_99776930delCA1139660679VPS13Bc.7322+2043_7478del
n.7392+2043_7548del
c.*3004+2043_*3160del
c.7247+2043_7403del
n.377+2043_378-1752del
c.7319+2043_7475del
c.7244+2043_7400del
c.6944+2043_7100del
c.4208+2043_4364del
c.3101+2043_3257del
n.1830+5550_2065+1677del
c.7127+2043_7283del
c.2879+2043_3035del
c.6107+2043_6263del
 ClinVar
8g.99776798A>CCA371875583VPS13Bc.7346A>C (p.Gln2449Pro)
n.7416A>C
c.*3028A>C (n.*3028A>C)
c.7271A>C (p.Gln2424Pro)
n.378-1884A>C
c.7343A>C (p.Gln2448Pro)
c.7268A>C (p.Gln2423Pro)
c.6968A>C (p.Gln2323Pro)
c.4232A>C (p.Gln1411Pro)
c.3125A>C (p.Gln1042Pro)
n.1830+5680T>G
c.7151A>C (p.Gln2384Pro)
c.2903A>C (p.Gln968Pro)
c.6131A>C (p.Gln2044Pro)
8g.99776798A>GCA371875584VPS13Bc.7346A>G (p.Gln2449Arg)
n.7416A>G
c.*3028A>G (n.*3028A>G)
c.7271A>G (p.Gln2424Arg)
n.378-1884A>G
c.7343A>G (p.Gln2448Arg)
c.7268A>G (p.Gln2423Arg)
c.6968A>G (p.Gln2323Arg)
c.4232A>G (p.Gln1411Arg)
c.3125A>G (p.Gln1042Arg)
n.1830+5680T>C
c.7151A>G (p.Gln2384Arg)
c.2903A>G (p.Gln968Arg)
c.6131A>G (p.Gln2044Arg)
8g.99776798A>TCA371875585VPS13Bc.7346A>T (p.Gln2449Leu)
n.7416A>T
c.*3028A>T (n.*3028A>T)
c.7271A>T (p.Gln2424Leu)
n.378-1884A>T
c.7343A>T (p.Gln2448Leu)
c.7268A>T (p.Gln2423Leu)
c.6968A>T (p.Gln2323Leu)
c.4232A>T (p.Gln1411Leu)
c.3125A>T (p.Gln1042Leu)
n.1830+5680T>A
c.7151A>T (p.Gln2384Leu)
c.2903A>T (p.Gln968Leu)
c.6131A>T (p.Gln2044Leu)
8g.99776800delCA2497230828VPS13Bc.7348del (p.Ser2450AlafsTer7)
n.7418del
c.*3030del (n.*3030del)
c.7273del (p.Ser2425AlafsTer7)
n.378-1882del
c.7345del (p.Ser2449AlafsTer7)
c.7270del (p.Ser2424AlafsTer7)
c.6970del (p.Ser2324AlafsTer7)
c.4234del (p.Ser1412AlafsTer7)
c.3127del (p.Ser1043AlafsTer7)
n.1830+5680del
c.7153del (p.Ser2385AlafsTer7)
c.2905del (p.Ser969AlafsTer7)
c.6133del (p.Ser2045AlafsTer7)
 dbSNP
8g.99776799A>CCA371875586VPS13Bc.7347A>C (p.Gln2449His)
n.7417A>C
c.*3029A>C (n.*3029A>C)
c.7272A>C (p.Gln2424His)
n.378-1883A>C
c.7344A>C (p.Gln2448His)
c.7269A>C (p.Gln2423His)
c.6969A>C (p.Gln2323His)
c.4233A>C (p.Gln1411His)
c.3126A>C (p.Gln1042His)
n.1830+5679T>G
c.7152A>C (p.Gln2384His)
c.2904A>C (p.Gln968His)
c.6132A>C (p.Gln2044His)
8g.99776799A>GCA462449146VPS13Bc.7347A>G (p.Gln2449=)
n.7417A>G
c.*3029A>G (n.*3029A>G)
c.7272A>G (p.Gln2424=)
n.378-1883A>G
c.7344A>G (p.Gln2448=)
c.7269A>G (p.Gln2423=)
c.6969A>G (p.Gln2323=)
c.4233A>G (p.Gln1411=)
c.3126A>G (p.Gln1042=)
n.1830+5679T>C
c.7152A>G (p.Gln2384=)
c.2904A>G (p.Gln968=)
c.6132A>G (p.Gln2044=)
 gnomAD v4
8g.99776799A>TCA371875587VPS13Bc.7347A>T (p.Gln2449His)
n.7417A>T
c.*3029A>T (n.*3029A>T)
c.7272A>T (p.Gln2424His)
n.378-1883A>T
c.7344A>T (p.Gln2448His)
c.7269A>T (p.Gln2423His)
c.6969A>T (p.Gln2323His)
c.4233A>T (p.Gln1411His)
c.3126A>T (p.Gln1042His)
n.1830+5679T>A
c.7152A>T (p.Gln2384His)
c.2904A>T (p.Gln968His)
c.6132A>T (p.Gln2044His)
8g.99776800A>CCA371875588VPS13Bc.7348A>C (p.Ser2450Arg)
n.7418A>C
c.*3030A>C (n.*3030A>C)
c.7273A>C (p.Ser2425Arg)
n.378-1882A>C
c.7345A>C (p.Ser2449Arg)
c.7270A>C (p.Ser2424Arg)
c.6970A>C (p.Ser2324Arg)
c.4234A>C (p.Ser1412Arg)
c.3127A>C (p.Ser1043Arg)
n.1830+5678T>G
c.7153A>C (p.Ser2385Arg)
c.2905A>C (p.Ser969Arg)
c.6133A>C (p.Ser2045Arg)
 ClinVar
8g.99776800A>GCA371875589VPS13Bc.7348A>G (p.Ser2450Gly)
n.7418A>G
c.*3030A>G (n.*3030A>G)
c.7273A>G (p.Ser2425Gly)
n.378-1882A>G
c.7345A>G (p.Ser2449Gly)
c.7270A>G (p.Ser2424Gly)
c.6970A>G (p.Ser2324Gly)
c.4234A>G (p.Ser1412Gly)
c.3127A>G (p.Ser1043Gly)
n.1830+5678T>C
c.7153A>G (p.Ser2385Gly)
c.2905A>G (p.Ser969Gly)
c.6133A>G (p.Ser2045Gly)
8g.99776800A>TCA371875590VPS13Bc.7348A>T (p.Ser2450Cys)
n.7418A>T
c.*3030A>T (n.*3030A>T)
c.7273A>T (p.Ser2425Cys)
n.378-1882A>T
c.7345A>T (p.Ser2449Cys)
c.7270A>T (p.Ser2424Cys)
c.6970A>T (p.Ser2324Cys)
c.4234A>T (p.Ser1412Cys)
c.3127A>T (p.Ser1043Cys)
n.1830+5678T>A
c.7153A>T (p.Ser2385Cys)
c.2905A>T (p.Ser969Cys)
c.6133A>T (p.Ser2045Cys)
8g.99776801G>ACA371875591VPS13Bc.7349G>A (p.Ser2450Asn)
n.7419G>A
c.*3031G>A (n.*3031G>A)
c.7274G>A (p.Ser2425Asn)
n.378-1881G>A
c.7346G>A (p.Ser2449Asn)
c.7271G>A (p.Ser2424Asn)
c.6971G>A (p.Ser2324Asn)
c.4235G>A (p.Ser1412Asn)
c.3128G>A (p.Ser1043Asn)
n.1830+5677C>T
c.7154G>A (p.Ser2385Asn)
c.2906G>A (p.Ser969Asn)
c.6134G>A (p.Ser2045Asn)
8g.99776801G>CCA371875592VPS13Bc.7349G>C (p.Ser2450Thr)
n.7419G>C
c.*3031G>C (n.*3031G>C)
c.7274G>C (p.Ser2425Thr)
n.378-1881G>C
c.7346G>C (p.Ser2449Thr)
c.7271G>C (p.Ser2424Thr)
c.6971G>C (p.Ser2324Thr)
c.4235G>C (p.Ser1412Thr)
c.3128G>C (p.Ser1043Thr)
n.1830+5677C>G
c.7154G>C (p.Ser2385Thr)
c.2906G>C (p.Ser969Thr)
c.6134G>C (p.Ser2045Thr)
8g.99776801G>TCA371875593VPS13Bc.7349G>T (p.Ser2450Ile)
n.7419G>T
c.*3031G>T (n.*3031G>T)
c.7274G>T (p.Ser2425Ile)
n.378-1881G>T
c.7346G>T (p.Ser2449Ile)
c.7271G>T (p.Ser2424Ile)
c.6971G>T (p.Ser2324Ile)
c.4235G>T (p.Ser1412Ile)
c.3128G>T (p.Ser1043Ile)
n.1830+5677C>A
c.7154G>T (p.Ser2385Ile)
c.2906G>T (p.Ser969Ile)
c.6134G>T (p.Ser2045Ile)
8g.99776802C>ACA183041705VPS13Bc.7350C>A (p.Ser2450Arg)
n.7420C>A
c.*3032C>A (n.*3032C>A)
c.7275C>A (p.Ser2425Arg)
n.378-1880C>A
c.7347C>A (p.Ser2449Arg)
c.7272C>A (p.Ser2424Arg)
c.6972C>A (p.Ser2324Arg)
c.4236C>A (p.Ser1412Arg)
c.3129C>A (p.Ser1043Arg)
n.1830+5676G>T
c.7155C>A (p.Ser2385Arg)
c.2907C>A (p.Ser969Arg)
c.6135C>A (p.Ser2045Arg)
 dbSNP
8g.99776802C>GCA371875594VPS13Bc.7350C>G (p.Ser2450Arg)
n.7420C>G
c.*3032C>G (n.*3032C>G)
c.7275C>G (p.Ser2425Arg)
n.378-1880C>G
c.7347C>G (p.Ser2449Arg)
c.7272C>G (p.Ser2424Arg)
c.6972C>G (p.Ser2324Arg)
c.4236C>G (p.Ser1412Arg)
c.3129C>G (p.Ser1043Arg)
n.1830+5676G>C
c.7155C>G (p.Ser2385Arg)
c.2907C>G (p.Ser969Arg)
c.6135C>G (p.Ser2045Arg)
8g.99776802C>TCA4824187VPS13Bc.7350C>T (p.Ser2450=)
n.7420C>T
c.*3032C>T (n.*3032C>T)
c.7275C>T (p.Ser2425=)
n.378-1880C>T
c.7347C>T (p.Ser2449=)
c.7272C>T (p.Ser2424=)
c.6972C>T (p.Ser2324=)
c.4236C>T (p.Ser1412=)
c.3129C>T (p.Ser1043=)
n.1830+5676G>A
c.7155C>T (p.Ser2385=)
c.2907C>T (p.Ser969=)
c.6135C>T (p.Ser2045=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776811_99776821dupCA2497230829VPS13Bc.7359_7369dup (p.Thr2457IlefsTer4)
n.7429_7439dup
c.*3041_*3051dup (n.*3041_*3051dup)
c.7284_7294dup (p.Thr2432IlefsTer4)
n.378-1871_378-1861dup
c.7356_7366dup (p.Thr2456IlefsTer4)
c.7281_7291dup (p.Thr2431IlefsTer4)
c.6981_6991dup (p.Thr2331IlefsTer4)
c.4245_4255dup (p.Thr1419IlefsTer4)
c.3138_3148dup (p.Thr1050IlefsTer4)
n.1830+5666_1830+5676dup
c.7164_7174dup (p.Thr2392IlefsTer4)
c.2916_2926dup (p.Thr976IlefsTer4)
c.6144_6154dup (p.Thr2052IlefsTer4)
 dbSNP
8g.99776803A>CCA371875595VPS13Bc.7351A>C (p.Thr2451Pro)
n.7421A>C
c.*3033A>C (n.*3033A>C)
c.7276A>C (p.Thr2426Pro)
n.378-1879A>C
c.7348A>C (p.Thr2450Pro)
c.7273A>C (p.Thr2425Pro)
c.6973A>C (p.Thr2325Pro)
c.4237A>C (p.Thr1413Pro)
c.3130A>C (p.Thr1044Pro)
n.1830+5675T>G
c.7156A>C (p.Thr2386Pro)
c.2908A>C (p.Thr970Pro)
c.6136A>C (p.Thr2046Pro)
8g.99776803A>GCA371875596VPS13Bc.7351A>G (p.Thr2451Ala)
n.7421A>G
c.*3033A>G (n.*3033A>G)
c.7276A>G (p.Thr2426Ala)
n.378-1879A>G
c.7348A>G (p.Thr2450Ala)
c.7273A>G (p.Thr2425Ala)
c.6973A>G (p.Thr2325Ala)
c.4237A>G (p.Thr1413Ala)
c.3130A>G (p.Thr1044Ala)
n.1830+5675T>C
c.7156A>G (p.Thr2386Ala)
c.2908A>G (p.Thr970Ala)
c.6136A>G (p.Thr2046Ala)
 ClinVar dbSNP gnomAD v4
8g.99776803A>TCA371875597VPS13Bc.7351A>T (p.Thr2451Ser)
n.7421A>T
c.*3033A>T (n.*3033A>T)
c.7276A>T (p.Thr2426Ser)
n.378-1879A>T
c.7348A>T (p.Thr2450Ser)
c.7273A>T (p.Thr2425Ser)
c.6973A>T (p.Thr2325Ser)
c.4237A>T (p.Thr1413Ser)
c.3130A>T (p.Thr1044Ser)
n.1830+5675T>A
c.7156A>T (p.Thr2386Ser)
c.2908A>T (p.Thr970Ser)
c.6136A>T (p.Thr2046Ser)
8g.99776804C>ACA371875598VPS13Bc.7352C>A (p.Thr2451Asn)
n.7422C>A
c.*3034C>A (n.*3034C>A)
c.7277C>A (p.Thr2426Asn)
n.378-1878C>A
c.7349C>A (p.Thr2450Asn)
c.7274C>A (p.Thr2425Asn)
c.6974C>A (p.Thr2325Asn)
c.4238C>A (p.Thr1413Asn)
c.3131C>A (p.Thr1044Asn)
n.1830+5674G>T
c.7157C>A (p.Thr2386Asn)
c.2909C>A (p.Thr970Asn)
c.6137C>A (p.Thr2046Asn)
8g.99776804C>GCA371875599VPS13Bc.7352C>G (p.Thr2451Ser)
n.7422C>G
c.*3034C>G (n.*3034C>G)
c.7277C>G (p.Thr2426Ser)
n.378-1878C>G
c.7349C>G (p.Thr2450Ser)
c.7274C>G (p.Thr2425Ser)
c.6974C>G (p.Thr2325Ser)
c.4238C>G (p.Thr1413Ser)
c.3131C>G (p.Thr1044Ser)
n.1830+5674G>C
c.7157C>G (p.Thr2386Ser)
c.2909C>G (p.Thr970Ser)
c.6137C>G (p.Thr2046Ser)
 ClinVar dbSNP
8g.99776804C>TCA371875600VPS13Bc.7352C>T (p.Thr2451Ile)
n.7422C>T
c.*3034C>T (n.*3034C>T)
c.7277C>T (p.Thr2426Ile)
n.378-1878C>T
c.7349C>T (p.Thr2450Ile)
c.7274C>T (p.Thr2425Ile)
c.6974C>T (p.Thr2325Ile)
c.4238C>T (p.Thr1413Ile)
c.3131C>T (p.Thr1044Ile)
n.1830+5674G>A
c.7157C>T (p.Thr2386Ile)
c.2909C>T (p.Thr970Ile)
c.6137C>T (p.Thr2046Ile)
8g.99776805T>ACA462449147VPS13Bc.7353T>A (p.Thr2451=)
n.7423T>A
c.*3035T>A (n.*3035T>A)
c.7278T>A (p.Thr2426=)
n.378-1877T>A
c.7350T>A (p.Thr2450=)
c.7275T>A (p.Thr2425=)
c.6975T>A (p.Thr2325=)
c.4239T>A (p.Thr1413=)
c.3132T>A (p.Thr1044=)
n.1830+5673A>T
c.7158T>A (p.Thr2386=)
c.2910T>A (p.Thr970=)
c.6138T>A (p.Thr2046=)
8g.99776805T>CCA462449149VPS13Bc.7353T>C (p.Thr2451=)
n.7423T>C
c.*3035T>C (n.*3035T>C)
c.7278T>C (p.Thr2426=)
n.378-1877T>C
c.7350T>C (p.Thr2450=)
c.7275T>C (p.Thr2425=)
c.6975T>C (p.Thr2325=)
c.4239T>C (p.Thr1413=)
c.3132T>C (p.Thr1044=)
n.1830+5673A>G
c.7158T>C (p.Thr2386=)
c.2910T>C (p.Thr970=)
c.6138T>C (p.Thr2046=)
8g.99776805T>GCA462449148VPS13Bc.7353T>G (p.Thr2451=)
n.7423T>G
c.*3035T>G (n.*3035T>G)
c.7278T>G (p.Thr2426=)
n.378-1877T>G
c.7350T>G (p.Thr2450=)
c.7275T>G (p.Thr2425=)
c.6975T>G (p.Thr2325=)
c.4239T>G (p.Thr1413=)
c.3132T>G (p.Thr1044=)
n.1830+5673A>C
c.7158T>G (p.Thr2386=)
c.2910T>G (p.Thr970=)
c.6138T>G (p.Thr2046=)
8g.99776806T>ACA371875603VPS13Bc.7354T>A (p.Cys2452Ser)
n.7424T>A
c.*3036T>A (n.*3036T>A)
c.7279T>A (p.Cys2427Ser)
n.378-1876T>A
c.7351T>A (p.Cys2451Ser)
c.7276T>A (p.Cys2426Ser)
c.6976T>A (p.Cys2326Ser)
c.4240T>A (p.Cys1414Ser)
c.3133T>A (p.Cys1045Ser)
n.1830+5672A>T
c.7159T>A (p.Cys2387Ser)
c.2911T>A (p.Cys971Ser)
c.6139T>A (p.Cys2047Ser)
8g.99776806T>CCA371875601VPS13Bc.7354T>C (p.Cys2452Arg)
n.7424T>C
c.*3036T>C (n.*3036T>C)
c.7279T>C (p.Cys2427Arg)
n.378-1876T>C
c.7351T>C (p.Cys2451Arg)
c.7276T>C (p.Cys2426Arg)
c.6976T>C (p.Cys2326Arg)
c.4240T>C (p.Cys1414Arg)
c.3133T>C (p.Cys1045Arg)
n.1830+5672A>G
c.7159T>C (p.Cys2387Arg)
c.2911T>C (p.Cys971Arg)
c.6139T>C (p.Cys2047Arg)
8g.99776806T>GCA371875602VPS13Bc.7354T>G (p.Cys2452Gly)
n.7424T>G
c.*3036T>G (n.*3036T>G)
c.7279T>G (p.Cys2427Gly)
n.378-1876T>G
c.7351T>G (p.Cys2451Gly)
c.7276T>G (p.Cys2426Gly)
c.6976T>G (p.Cys2326Gly)
c.4240T>G (p.Cys1414Gly)
c.3133T>G (p.Cys1045Gly)
n.1830+5672A>C
c.7159T>G (p.Cys2387Gly)
c.2911T>G (p.Cys971Gly)
c.6139T>G (p.Cys2047Gly)
8g.99776807G>ACA371875604VPS13Bc.7355G>A (p.Cys2452Tyr)
n.7425G>A
c.*3037G>A (n.*3037G>A)
c.7280G>A (p.Cys2427Tyr)
n.378-1875G>A
c.7352G>A (p.Cys2451Tyr)
c.7277G>A (p.Cys2426Tyr)
c.6977G>A (p.Cys2326Tyr)
c.4241G>A (p.Cys1414Tyr)
c.3134G>A (p.Cys1045Tyr)
n.1830+5671C>T
c.7160G>A (p.Cys2387Tyr)
c.2912G>A (p.Cys971Tyr)
c.6140G>A (p.Cys2047Tyr)
8g.99776807G>CCA371875605VPS13Bc.7355G>C (p.Cys2452Ser)
n.7425G>C
c.*3037G>C (n.*3037G>C)
c.7280G>C (p.Cys2427Ser)
n.378-1875G>C
c.7352G>C (p.Cys2451Ser)
c.7277G>C (p.Cys2426Ser)
c.6977G>C (p.Cys2326Ser)
c.4241G>C (p.Cys1414Ser)
c.3134G>C (p.Cys1045Ser)
n.1830+5671C>G
c.7160G>C (p.Cys2387Ser)
c.2912G>C (p.Cys971Ser)
c.6140G>C (p.Cys2047Ser)
8g.99776807G>TCA371875606VPS13Bc.7355G>T (p.Cys2452Phe)
n.7425G>T
c.*3037G>T (n.*3037G>T)
c.7280G>T (p.Cys2427Phe)
n.378-1875G>T
c.7352G>T (p.Cys2451Phe)
c.7277G>T (p.Cys2426Phe)
c.6977G>T (p.Cys2326Phe)
c.4241G>T (p.Cys1414Phe)
c.3134G>T (p.Cys1045Phe)
n.1830+5671C>A
c.7160G>T (p.Cys2387Phe)
c.2912G>T (p.Cys971Phe)
c.6140G>T (p.Cys2047Phe)
8g.99776808T>ACA371875607VPS13Bc.7356T>A (p.Cys2452Ter)
n.7426T>A
c.*3038T>A (n.*3038T>A)
c.7281T>A (p.Cys2427Ter)
n.378-1874T>A
c.7353T>A (p.Cys2451Ter)
c.7278T>A (p.Cys2426Ter)
c.6978T>A (p.Cys2326Ter)
c.4242T>A (p.Cys1414Ter)
c.3135T>A (p.Cys1045Ter)
n.1830+5670A>T
c.7161T>A (p.Cys2387Ter)
c.2913T>A (p.Cys971Ter)
c.6141T>A (p.Cys2047Ter)
8g.99776808T>CCA462449150VPS13Bc.7356T>C (p.Cys2452=)
n.7426T>C
c.*3038T>C (n.*3038T>C)
c.7281T>C (p.Cys2427=)
n.378-1874T>C
c.7353T>C (p.Cys2451=)
c.7278T>C (p.Cys2426=)
c.6978T>C (p.Cys2326=)
c.4242T>C (p.Cys1414=)
c.3135T>C (p.Cys1045=)
n.1830+5670A>G
c.7161T>C (p.Cys2387=)
c.2913T>C (p.Cys971=)
c.6141T>C (p.Cys2047=)
8g.99776808T>GCA371875608VPS13Bc.7356T>G (p.Cys2452Trp)
n.7426T>G
c.*3038T>G (n.*3038T>G)
c.7281T>G (p.Cys2427Trp)
n.378-1874T>G
c.7353T>G (p.Cys2451Trp)
c.7278T>G (p.Cys2426Trp)
c.6978T>G (p.Cys2326Trp)
c.4242T>G (p.Cys1414Trp)
c.3135T>G (p.Cys1045Trp)
n.1830+5670A>C
c.7161T>G (p.Cys2387Trp)
c.2913T>G (p.Cys971Trp)
c.6141T>G (p.Cys2047Trp)
8g.99776809G>ACA371875609VPS13Bc.7357G>A (p.Asp2453Asn)
n.7427G>A
c.*3039G>A (n.*3039G>A)
c.7282G>A (p.Asp2428Asn)
n.378-1873G>A
c.7354G>A (p.Asp2452Asn)
c.7279G>A (p.Asp2427Asn)
c.6979G>A (p.Asp2327Asn)
c.4243G>A (p.Asp1415Asn)
c.3136G>A (p.Asp1046Asn)
n.1830+5669C>T
c.7162G>A (p.Asp2388Asn)
c.2914G>A (p.Asp972Asn)
c.6142G>A (p.Asp2048Asn)
8g.99776809G>CCA371875611VPS13Bc.7357G>C (p.Asp2453His)
n.7427G>C
c.*3039G>C (n.*3039G>C)
c.7282G>C (p.Asp2428His)
n.378-1873G>C
c.7354G>C (p.Asp2452His)
c.7279G>C (p.Asp2427His)
c.6979G>C (p.Asp2327His)
c.4243G>C (p.Asp1415His)
c.3136G>C (p.Asp1046His)
n.1830+5669C>G
c.7162G>C (p.Asp2388His)
c.2914G>C (p.Asp972His)
c.6142G>C (p.Asp2048His)
8g.99776809G>TCA371875610VPS13Bc.7357G>T (p.Asp2453Tyr)
n.7427G>T
c.*3039G>T (n.*3039G>T)
c.7282G>T (p.Asp2428Tyr)
n.378-1873G>T
c.7354G>T (p.Asp2452Tyr)
c.7279G>T (p.Asp2427Tyr)
c.6979G>T (p.Asp2327Tyr)
c.4243G>T (p.Asp1415Tyr)
c.3136G>T (p.Asp1046Tyr)
n.1830+5669C>A
c.7162G>T (p.Asp2388Tyr)
c.2914G>T (p.Asp972Tyr)
c.6142G>T (p.Asp2048Tyr)
8g.99776810delCA2688068075VPS13Bc.7358del (p.Asp2453ValfsTer4)
n.7428del
c.*3040del (n.*3040del)
c.7283del (p.Asp2428ValfsTer4)
n.378-1872del
c.7355del (p.Asp2452ValfsTer4)
c.7280del (p.Asp2427ValfsTer4)
c.6980del (p.Asp2327ValfsTer4)
c.4244del (p.Asp1415ValfsTer4)
c.3137del (p.Asp1046ValfsTer4)
n.1830+5668del
c.7163del (p.Asp2388ValfsTer4)
c.2915del (p.Asp972ValfsTer4)
c.6143del (p.Asp2048ValfsTer4)
 gnomAD v4
8g.99776810A>CCA371875612VPS13Bc.7358A>C (p.Asp2453Ala)
n.7428A>C
c.*3040A>C (n.*3040A>C)
c.7283A>C (p.Asp2428Ala)
n.378-1872A>C
c.7355A>C (p.Asp2452Ala)
c.7280A>C (p.Asp2427Ala)
c.6980A>C (p.Asp2327Ala)
c.4244A>C (p.Asp1415Ala)
c.3137A>C (p.Asp1046Ala)
n.1830+5668T>G
c.7163A>C (p.Asp2388Ala)
c.2915A>C (p.Asp972Ala)
c.6143A>C (p.Asp2048Ala)
8g.99776810A>GCA371875613VPS13Bc.7358A>G (p.Asp2453Gly)
n.7428A>G
c.*3040A>G (n.*3040A>G)
c.7283A>G (p.Asp2428Gly)
n.378-1872A>G
c.7355A>G (p.Asp2452Gly)
c.7280A>G (p.Asp2427Gly)
c.6980A>G (p.Asp2327Gly)
c.4244A>G (p.Asp1415Gly)
c.3137A>G (p.Asp1046Gly)
n.1830+5668T>C
c.7163A>G (p.Asp2388Gly)
c.2915A>G (p.Asp972Gly)
c.6143A>G (p.Asp2048Gly)
 gnomAD v4
8g.99776810A>TCA371875614VPS13Bc.7358A>T (p.Asp2453Val)
n.7428A>T
c.*3040A>T (n.*3040A>T)
c.7283A>T (p.Asp2428Val)
n.378-1872A>T
c.7355A>T (p.Asp2452Val)
c.7280A>T (p.Asp2427Val)
c.6980A>T (p.Asp2327Val)
c.4244A>T (p.Asp1415Val)
c.3137A>T (p.Asp1046Val)
n.1830+5668T>A
c.7163A>T (p.Asp2388Val)
c.2915A>T (p.Asp972Val)
c.6143A>T (p.Asp2048Val)
8g.99776811T>ACA371875615VPS13Bc.7359T>A (p.Asp2453Glu)
n.7429T>A
c.*3041T>A (n.*3041T>A)
c.7284T>A (p.Asp2428Glu)
n.378-1871T>A
c.7356T>A (p.Asp2452Glu)
c.7281T>A (p.Asp2427Glu)
c.6981T>A (p.Asp2327Glu)
c.4245T>A (p.Asp1415Glu)
c.3138T>A (p.Asp1046Glu)
n.1830+5667A>T
c.7164T>A (p.Asp2388Glu)
c.2916T>A (p.Asp972Glu)
c.6144T>A (p.Asp2048Glu)
8g.99776811T>CCA462449151VPS13Bc.7359T>C (p.Asp2453=)
n.7429T>C
c.*3041T>C (n.*3041T>C)
c.7284T>C (p.Asp2428=)
n.378-1871T>C
c.7356T>C (p.Asp2452=)
c.7281T>C (p.Asp2427=)
c.6981T>C (p.Asp2327=)
c.4245T>C (p.Asp1415=)
c.3138T>C (p.Asp1046=)
n.1830+5667A>G
c.7164T>C (p.Asp2388=)
c.2916T>C (p.Asp972=)
c.6144T>C (p.Asp2048=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99776811T>GCA371875616VPS13Bc.7359T>G (p.Asp2453Glu)
n.7429T>G
c.*3041T>G (n.*3041T>G)
c.7284T>G (p.Asp2428Glu)
n.378-1871T>G
c.7356T>G (p.Asp2452Glu)
c.7281T>G (p.Asp2427Glu)
c.6981T>G (p.Asp2327Glu)
c.4245T>G (p.Asp1415Glu)
c.3138T>G (p.Asp1046Glu)
n.1830+5667A>C
c.7164T>G (p.Asp2388Glu)
c.2916T>G (p.Asp972Glu)
c.6144T>G (p.Asp2048Glu)
8g.99776812C>ACA371875617VPS13Bc.7360C>A (p.Pro2454Thr)
n.7430C>A
c.*3042C>A (n.*3042C>A)
c.7285C>A (p.Pro2429Thr)
n.378-1870C>A
c.7357C>A (p.Pro2453Thr)
c.7282C>A (p.Pro2428Thr)
c.6982C>A (p.Pro2328Thr)
c.4246C>A (p.Pro1416Thr)
c.3139C>A (p.Pro1047Thr)
n.1830+5666G>T
c.7165C>A (p.Pro2389Thr)
c.2917C>A (p.Pro973Thr)
c.6145C>A (p.Pro2049Thr)
8g.99776812C>GCA371875618VPS13Bc.7360C>G (p.Pro2454Ala)
n.7430C>G
c.*3042C>G (n.*3042C>G)
c.7285C>G (p.Pro2429Ala)
n.378-1870C>G
c.7357C>G (p.Pro2453Ala)
c.7282C>G (p.Pro2428Ala)
c.6982C>G (p.Pro2328Ala)
c.4246C>G (p.Pro1416Ala)
c.3139C>G (p.Pro1047Ala)
n.1830+5666G>C
c.7165C>G (p.Pro2389Ala)
c.2917C>G (p.Pro973Ala)
c.6145C>G (p.Pro2049Ala)
8g.99776812C>TCA371875619VPS13Bc.7360C>T (p.Pro2454Ser)
n.7430C>T
c.*3042C>T (n.*3042C>T)
c.7285C>T (p.Pro2429Ser)
n.378-1870C>T
c.7357C>T (p.Pro2453Ser)
c.7282C>T (p.Pro2428Ser)
c.6982C>T (p.Pro2328Ser)
c.4246C>T (p.Pro1416Ser)
c.3139C>T (p.Pro1047Ser)
n.1830+5666G>A
c.7165C>T (p.Pro2389Ser)
c.2917C>T (p.Pro973Ser)
c.6145C>T (p.Pro2049Ser)
8g.99776813C>ACA371875620VPS13Bc.7361C>A (p.Pro2454Gln)
n.7431C>A
c.*3043C>A (n.*3043C>A)
c.7286C>A (p.Pro2429Gln)
n.378-1869C>A
c.7358C>A (p.Pro2453Gln)
c.7283C>A (p.Pro2428Gln)
c.6983C>A (p.Pro2328Gln)
c.4247C>A (p.Pro1416Gln)
c.3140C>A (p.Pro1047Gln)
n.1830+5665G>T
c.7166C>A (p.Pro2389Gln)
c.2918C>A (p.Pro973Gln)
c.6146C>A (p.Pro2049Gln)
8g.99776813C>GCA371875621VPS13Bc.7361C>G (p.Pro2454Arg)
n.7431C>G
c.*3043C>G (n.*3043C>G)
c.7286C>G (p.Pro2429Arg)
n.378-1869C>G
c.7358C>G (p.Pro2453Arg)
c.7283C>G (p.Pro2428Arg)
c.6983C>G (p.Pro2328Arg)
c.4247C>G (p.Pro1416Arg)
c.3140C>G (p.Pro1047Arg)
n.1830+5665G>C
c.7166C>G (p.Pro2389Arg)
c.2918C>G (p.Pro973Arg)
c.6146C>G (p.Pro2049Arg)
8g.99776813C>TCA183041708VPS13Bc.7361C>T (p.Pro2454Leu)
n.7431C>T
c.*3043C>T (n.*3043C>T)
c.7286C>T (p.Pro2429Leu)
n.378-1869C>T
c.7358C>T (p.Pro2453Leu)
c.7283C>T (p.Pro2428Leu)
c.6983C>T (p.Pro2328Leu)
c.4247C>T (p.Pro1416Leu)
c.3140C>T (p.Pro1047Leu)
n.1830+5665G>A
c.7166C>T (p.Pro2389Leu)
c.2918C>T (p.Pro973Leu)
c.6146C>T (p.Pro2049Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99776814A>CCA462449153VPS13Bc.7362A>C (p.Pro2454=)
n.7432A>C
c.*3044A>C (n.*3044A>C)
c.7287A>C (p.Pro2429=)
n.378-1868A>C
c.7359A>C (p.Pro2453=)
c.7284A>C (p.Pro2428=)
c.6984A>C (p.Pro2328=)
c.4248A>C (p.Pro1416=)
c.3141A>C (p.Pro1047=)
n.1830+5664T>G
c.7167A>C (p.Pro2389=)
c.2919A>C (p.Pro973=)
c.6147A>C (p.Pro2049=)
8g.99776814A>GCA462449154VPS13Bc.7362A>G (p.Pro2454=)
n.7432A>G
c.*3044A>G (n.*3044A>G)
c.7287A>G (p.Pro2429=)
n.378-1868A>G
c.7359A>G (p.Pro2453=)
c.7284A>G (p.Pro2428=)
c.6984A>G (p.Pro2328=)
c.4248A>G (p.Pro1416=)
c.3141A>G (p.Pro1047=)
n.1830+5664T>C
c.7167A>G (p.Pro2389=)
c.2919A>G (p.Pro973=)
c.6147A>G (p.Pro2049=)
 gnomAD v4
8g.99776814A>TCA462449152VPS13Bc.7362A>T (p.Pro2454=)
n.7432A>T
c.*3044A>T (n.*3044A>T)
c.7287A>T (p.Pro2429=)
n.378-1868A>T
c.7359A>T (p.Pro2453=)
c.7284A>T (p.Pro2428=)
c.6984A>T (p.Pro2328=)
c.4248A>T (p.Pro1416=)
c.3141A>T (p.Pro1047=)
n.1830+5664T>A
c.7167A>T (p.Pro2389=)
c.2919A>T (p.Pro973=)
c.6147A>T (p.Pro2049=)
8g.99776815C>ACA371875624VPS13Bc.7363C>A (p.Leu2455Ile)
n.7433C>A
c.*3045C>A (n.*3045C>A)
c.7288C>A (p.Leu2430Ile)
n.378-1867C>A
c.7360C>A (p.Leu2454Ile)
c.7285C>A (p.Leu2429Ile)
c.6985C>A (p.Leu2329Ile)
c.4249C>A (p.Leu1417Ile)
c.3142C>A (p.Leu1048Ile)
n.1830+5663G>T
c.7168C>A (p.Leu2390Ile)
c.2920C>A (p.Leu974Ile)
c.6148C>A (p.Leu2050Ile)
8g.99776815C>GCA371875623VPS13Bc.7363C>G (p.Leu2455Val)
n.7433C>G
c.*3045C>G (n.*3045C>G)
c.7288C>G (p.Leu2430Val)
n.378-1867C>G
c.7360C>G (p.Leu2454Val)
c.7285C>G (p.Leu2429Val)
c.6985C>G (p.Leu2329Val)
c.4249C>G (p.Leu1417Val)
c.3142C>G (p.Leu1048Val)
n.1830+5663G>C
c.7168C>G (p.Leu2390Val)
c.2920C>G (p.Leu974Val)
c.6148C>G (p.Leu2050Val)
8g.99776815C>TCA371875622VPS13Bc.7363C>T (p.Leu2455Phe)
n.7433C>T
c.*3045C>T (n.*3045C>T)
c.7288C>T (p.Leu2430Phe)
n.378-1867C>T
c.7360C>T (p.Leu2454Phe)
c.7285C>T (p.Leu2429Phe)
c.6985C>T (p.Leu2329Phe)
c.4249C>T (p.Leu1417Phe)
c.3142C>T (p.Leu1048Phe)
n.1830+5663G>A
c.7168C>T (p.Leu2390Phe)
c.2920C>T (p.Leu974Phe)
c.6148C>T (p.Leu2050Phe)
8g.99776816T>ACA371875625VPS13Bc.7364T>A (p.Leu2455His)
n.7434T>A
c.*3046T>A (n.*3046T>A)
c.7289T>A (p.Leu2430His)
n.378-1866T>A
c.7361T>A (p.Leu2454His)
c.7286T>A (p.Leu2429His)
c.6986T>A (p.Leu2329His)
c.4250T>A (p.Leu1417His)
c.3143T>A (p.Leu1048His)
n.1830+5662A>T
c.7169T>A (p.Leu2390His)
c.2921T>A (p.Leu974His)
c.6149T>A (p.Leu2050His)
8g.99776816T>CCA371875627VPS13Bc.7364T>C (p.Leu2455Pro)
n.7434T>C
c.*3046T>C (n.*3046T>C)
c.7289T>C (p.Leu2430Pro)
n.378-1866T>C
c.7361T>C (p.Leu2454Pro)
c.7286T>C (p.Leu2429Pro)
c.6986T>C (p.Leu2329Pro)
c.4250T>C (p.Leu1417Pro)
c.3143T>C (p.Leu1048Pro)
n.1830+5662A>G
c.7169T>C (p.Leu2390Pro)
c.2921T>C (p.Leu974Pro)
c.6149T>C (p.Leu2050Pro)
 gnomAD v4
8g.99776816T>GCA371875626VPS13Bc.7364T>G (p.Leu2455Arg)
n.7434T>G
c.*3046T>G (n.*3046T>G)
c.7289T>G (p.Leu2430Arg)
n.378-1866T>G
c.7361T>G (p.Leu2454Arg)
c.7286T>G (p.Leu2429Arg)
c.6986T>G (p.Leu2329Arg)
c.4250T>G (p.Leu1417Arg)
c.3143T>G (p.Leu1048Arg)
n.1830+5662A>C
c.7169T>G (p.Leu2390Arg)
c.2921T>G (p.Leu974Arg)
c.6149T>G (p.Leu2050Arg)
8g.99776817T>ACA462449155VPS13Bc.7365T>A (p.Leu2455=)
n.7435T>A
c.*3047T>A (n.*3047T>A)
c.7290T>A (p.Leu2430=)
n.378-1865T>A
c.7362T>A (p.Leu2454=)
c.7287T>A (p.Leu2429=)
c.6987T>A (p.Leu2329=)
c.4251T>A (p.Leu1417=)
c.3144T>A (p.Leu1048=)
n.1830+5661A>T
c.7170T>A (p.Leu2390=)
c.2922T>A (p.Leu974=)
c.6150T>A (p.Leu2050=)
8g.99776817T>CCA462449156VPS13Bc.7365T>C (p.Leu2455=)
n.7435T>C
c.*3047T>C (n.*3047T>C)
c.7290T>C (p.Leu2430=)
n.378-1865T>C
c.7362T>C (p.Leu2454=)
c.7287T>C (p.Leu2429=)
c.6987T>C (p.Leu2329=)
c.4251T>C (p.Leu1417=)
c.3144T>C (p.Leu1048=)
n.1830+5661A>G
c.7170T>C (p.Leu2390=)
c.2922T>C (p.Leu974=)
c.6150T>C (p.Leu2050=)
8g.99776817T>GCA462449157VPS13Bc.7365T>G (p.Leu2455=)
n.7435T>G
c.*3047T>G (n.*3047T>G)
c.7290T>G (p.Leu2430=)
n.378-1865T>G
c.7362T>G (p.Leu2454=)
c.7287T>G (p.Leu2429=)
c.6987T>G (p.Leu2329=)
c.4251T>G (p.Leu1417=)
c.3144T>G (p.Leu1048=)
n.1830+5661A>C
c.7170T>G (p.Leu2390=)
c.2922T>G (p.Leu974=)
c.6150T>G (p.Leu2050=)
8g.99776818G>ACA4824188VPS13Bc.7366G>A (p.Val2456Met)
n.7436G>A
c.*3048G>A (n.*3048G>A)
c.7291G>A (p.Val2431Met)
n.378-1864G>A
c.7363G>A (p.Val2455Met)
c.7288G>A (p.Val2430Met)
c.6988G>A (p.Val2330Met)
c.4252G>A (p.Val1418Met)
c.3145G>A (p.Val1049Met)
n.1830+5660C>T
c.7171G>A (p.Val2391Met)
c.2923G>A (p.Val975Met)
c.6151G>A (p.Val2051Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776818G>CCA371875629VPS13Bc.7366G>C (p.Val2456Leu)
n.7436G>C
c.*3048G>C (n.*3048G>C)
c.7291G>C (p.Val2431Leu)
n.378-1864G>C
c.7363G>C (p.Val2455Leu)
c.7288G>C (p.Val2430Leu)
c.6988G>C (p.Val2330Leu)
c.4252G>C (p.Val1418Leu)
c.3145G>C (p.Val1049Leu)
n.1830+5660C>G
c.7171G>C (p.Val2391Leu)
c.2923G>C (p.Val975Leu)
c.6151G>C (p.Val2051Leu)
8g.99776818G>TCA371875628VPS13Bc.7366G>T (p.Val2456Leu)
n.7436G>T
c.*3048G>T (n.*3048G>T)
c.7291G>T (p.Val2431Leu)
n.378-1864G>T
c.7363G>T (p.Val2455Leu)
c.7288G>T (p.Val2430Leu)
c.6988G>T (p.Val2330Leu)
c.4252G>T (p.Val1418Leu)
c.3145G>T (p.Val1049Leu)
n.1830+5660C>A
c.7171G>T (p.Val2391Leu)
c.2923G>T (p.Val975Leu)
c.6151G>T (p.Val2051Leu)
8g.99776819T>ACA371875630VPS13Bc.7367T>A (p.Val2456Glu)
n.7437T>A
c.*3049T>A (n.*3049T>A)
c.7292T>A (p.Val2431Glu)
n.378-1863T>A
c.7364T>A (p.Val2455Glu)
c.7289T>A (p.Val2430Glu)
c.6989T>A (p.Val2330Glu)
c.4253T>A (p.Val1418Glu)
c.3146T>A (p.Val1049Glu)
n.1830+5659A>T
c.7172T>A (p.Val2391Glu)
c.2924T>A (p.Val975Glu)
c.6152T>A (p.Val2051Glu)
8g.99776819T>CCA183041712VPS13Bc.7367T>C (p.Val2456Ala)
n.7437T>C
c.*3049T>C (n.*3049T>C)
c.7292T>C (p.Val2431Ala)
n.378-1863T>C
c.7364T>C (p.Val2455Ala)
c.7289T>C (p.Val2430Ala)
c.6989T>C (p.Val2330Ala)
c.4253T>C (p.Val1418Ala)
c.3146T>C (p.Val1049Ala)
n.1830+5659A>G
c.7172T>C (p.Val2391Ala)
c.2924T>C (p.Val975Ala)
c.6152T>C (p.Val2051Ala)
 dbSNP
8g.99776819T>GCA371875631VPS13Bc.7367T>G (p.Val2456Gly)
n.7437T>G
c.*3049T>G (n.*3049T>G)
c.7292T>G (p.Val2431Gly)
n.378-1863T>G
c.7364T>G (p.Val2455Gly)
c.7289T>G (p.Val2430Gly)
c.6989T>G (p.Val2330Gly)
c.4253T>G (p.Val1418Gly)
c.3146T>G (p.Val1049Gly)
n.1830+5659A>C
c.7172T>G (p.Val2391Gly)
c.2924T>G (p.Val975Gly)
c.6152T>G (p.Val2051Gly)
8g.99776820G>ACA462449158VPS13Bc.7368G>A (p.Val2456=)
n.7438G>A
c.*3050G>A (n.*3050G>A)
c.7293G>A (p.Val2431=)
n.378-1862G>A
c.7365G>A (p.Val2455=)
c.7290G>A (p.Val2430=)
c.6990G>A (p.Val2330=)
c.4254G>A (p.Val1418=)
c.3147G>A (p.Val1049=)
n.1830+5658C>T
c.7173G>A (p.Val2391=)
c.2925G>A (p.Val975=)
c.6153G>A (p.Val2051=)
 ClinVar
8g.99776820G>CCA462449159VPS13Bc.7368G>C (p.Val2456=)
n.7438G>C
c.*3050G>C (n.*3050G>C)
c.7293G>C (p.Val2431=)
n.378-1862G>C
c.7365G>C (p.Val2455=)
c.7290G>C (p.Val2430=)
c.6990G>C (p.Val2330=)
c.4254G>C (p.Val1418=)
c.3147G>C (p.Val1049=)
n.1830+5658C>G
c.7173G>C (p.Val2391=)
c.2925G>C (p.Val975=)
c.6153G>C (p.Val2051=)
8g.99776820G>TCA462449160VPS13Bc.7368G>T (p.Val2456=)
n.7438G>T
c.*3050G>T (n.*3050G>T)
c.7293G>T (p.Val2431=)
n.378-1862G>T
c.7365G>T (p.Val2455=)
c.7290G>T (p.Val2430=)
c.6990G>T (p.Val2330=)
c.4254G>T (p.Val1418=)
c.3147G>T (p.Val1049=)
n.1830+5658C>A
c.7173G>T (p.Val2391=)
c.2925G>T (p.Val975=)
c.6153G>T (p.Val2051=)
8g.99776821A>CCA371875632VPS13Bc.7369A>C (p.Thr2457Pro)
n.7439A>C
c.*3051A>C (n.*3051A>C)
c.7294A>C (p.Thr2432Pro)
n.378-1861A>C
c.7366A>C (p.Thr2456Pro)
c.7291A>C (p.Thr2431Pro)
c.6991A>C (p.Thr2331Pro)
c.4255A>C (p.Thr1419Pro)
c.3148A>C (p.Thr1050Pro)
n.1830+5657T>G
c.7174A>C (p.Thr2392Pro)
c.2926A>C (p.Thr976Pro)
c.6154A>C (p.Thr2052Pro)
8g.99776821A>GCA371875633VPS13Bc.7369A>G (p.Thr2457Ala)
n.7439A>G
c.*3051A>G (n.*3051A>G)
c.7294A>G (p.Thr2432Ala)
n.378-1861A>G
c.7366A>G (p.Thr2456Ala)
c.7291A>G (p.Thr2431Ala)
c.6991A>G (p.Thr2331Ala)
c.4255A>G (p.Thr1419Ala)
c.3148A>G (p.Thr1050Ala)
n.1830+5657T>C
c.7174A>G (p.Thr2392Ala)
c.2926A>G (p.Thr976Ala)
c.6154A>G (p.Thr2052Ala)
8g.99776821A>TCA371875634VPS13Bc.7369A>T (p.Thr2457Ser)
n.7439A>T
c.*3051A>T (n.*3051A>T)
c.7294A>T (p.Thr2432Ser)
n.378-1861A>T
c.7366A>T (p.Thr2456Ser)
c.7291A>T (p.Thr2431Ser)
c.6991A>T (p.Thr2331Ser)
c.4255A>T (p.Thr1419Ser)
c.3148A>T (p.Thr1050Ser)
n.1830+5657T>A
c.7174A>T (p.Thr2392Ser)
c.2926A>T (p.Thr976Ser)
c.6154A>T (p.Thr2052Ser)
8g.99776822C>ACA371875635VPS13Bc.7370C>A (p.Thr2457Asn)
n.7440C>A
c.*3052C>A (n.*3052C>A)
c.7295C>A (p.Thr2432Asn)
n.378-1860C>A
c.7367C>A (p.Thr2456Asn)
c.7292C>A (p.Thr2431Asn)
c.6992C>A (p.Thr2331Asn)
c.4256C>A (p.Thr1419Asn)
c.3149C>A (p.Thr1050Asn)
n.1830+5656G>T
c.7175C>A (p.Thr2392Asn)
c.2927C>A (p.Thr976Asn)
c.6155C>A (p.Thr2052Asn)
8g.99776822C>GCA371875636VPS13Bc.7370C>G (p.Thr2457Ser)
n.7440C>G
c.*3052C>G (n.*3052C>G)
c.7295C>G (p.Thr2432Ser)
n.378-1860C>G
c.7367C>G (p.Thr2456Ser)
c.7292C>G (p.Thr2431Ser)
c.6992C>G (p.Thr2331Ser)
c.4256C>G (p.Thr1419Ser)
c.3149C>G (p.Thr1050Ser)
n.1830+5656G>C
c.7175C>G (p.Thr2392Ser)
c.2927C>G (p.Thr976Ser)
c.6155C>G (p.Thr2052Ser)
8g.99776822C>TCA371875637VPS13Bc.7370C>T (p.Thr2457Ile)
n.7440C>T
c.*3052C>T (n.*3052C>T)
c.7295C>T (p.Thr2432Ile)
n.378-1860C>T
c.7367C>T (p.Thr2456Ile)
c.7292C>T (p.Thr2431Ile)
c.6992C>T (p.Thr2331Ile)
c.4256C>T (p.Thr1419Ile)
c.3149C>T (p.Thr1050Ile)
n.1830+5656G>A
c.7175C>T (p.Thr2392Ile)
c.2927C>T (p.Thr976Ile)
c.6155C>T (p.Thr2052Ile)
 ClinVar dbSNP
8g.99776823T>ACA462449161VPS13Bc.7371T>A (p.Thr2457=)
n.7441T>A
c.*3053T>A (n.*3053T>A)
c.7296T>A (p.Thr2432=)
n.378-1859T>A
c.7368T>A (p.Thr2456=)
c.7293T>A (p.Thr2431=)
c.6993T>A (p.Thr2331=)
c.4257T>A (p.Thr1419=)
c.3150T>A (p.Thr1050=)
n.1830+5655A>T
c.7176T>A (p.Thr2392=)
c.2928T>A (p.Thr976=)
c.6156T>A (p.Thr2052=)
8g.99776823T>CCA462449162VPS13Bc.7371T>C (p.Thr2457=)
n.7441T>C
c.*3053T>C (n.*3053T>C)
c.7296T>C (p.Thr2432=)
n.378-1859T>C
c.7368T>C (p.Thr2456=)
c.7293T>C (p.Thr2431=)
c.6993T>C (p.Thr2331=)
c.4257T>C (p.Thr1419=)
c.3150T>C (p.Thr1050=)
n.1830+5655A>G
c.7176T>C (p.Thr2392=)
c.2928T>C (p.Thr976=)
c.6156T>C (p.Thr2052=)
8g.99776823T>GCA462449163VPS13Bc.7371T>G (p.Thr2457=)
n.7441T>G
c.*3053T>G (n.*3053T>G)
c.7296T>G (p.Thr2432=)
n.378-1859T>G
c.7368T>G (p.Thr2456=)
c.7293T>G (p.Thr2431=)
c.6993T>G (p.Thr2331=)
c.4257T>G (p.Thr1419=)
c.3150T>G (p.Thr1050=)
n.1830+5655A>C
c.7176T>G (p.Thr2392=)
c.2928T>G (p.Thr976=)
c.6156T>G (p.Thr2052=)
8g.99776824C>ACA371875638VPS13Bc.7372C>A (p.Pro2458Thr)
n.7442C>A
c.*3054C>A (n.*3054C>A)
c.7297C>A (p.Pro2433Thr)
n.378-1858C>A
c.7369C>A (p.Pro2457Thr)
c.7294C>A (p.Pro2432Thr)
c.6994C>A (p.Pro2332Thr)
c.4258C>A (p.Pro1420Thr)
c.3151C>A (p.Pro1051Thr)
n.1830+5654G>T
c.7177C>A (p.Pro2393Thr)
c.2929C>A (p.Pro977Thr)
c.6157C>A (p.Pro2053Thr)
8g.99776824C>GCA371875639VPS13Bc.7372C>G (p.Pro2458Ala)
n.7442C>G
c.*3054C>G (n.*3054C>G)
c.7297C>G (p.Pro2433Ala)
n.378-1858C>G
c.7369C>G (p.Pro2457Ala)
c.7294C>G (p.Pro2432Ala)
c.6994C>G (p.Pro2332Ala)
c.4258C>G (p.Pro1420Ala)
c.3151C>G (p.Pro1051Ala)
n.1830+5654G>C
c.7177C>G (p.Pro2393Ala)
c.2929C>G (p.Pro977Ala)
c.6157C>G (p.Pro2053Ala)
8g.99776824C>TCA183041714VPS13Bc.7372C>T (p.Pro2458Ser)
n.7442C>T
c.*3054C>T (n.*3054C>T)
c.7297C>T (p.Pro2433Ser)
n.378-1858C>T
c.7369C>T (p.Pro2457Ser)
c.7294C>T (p.Pro2432Ser)
c.6994C>T (p.Pro2332Ser)
c.4258C>T (p.Pro1420Ser)
c.3151C>T (p.Pro1051Ser)
n.1830+5654G>A
c.7177C>T (p.Pro2393Ser)
c.2929C>T (p.Pro977Ser)
c.6157C>T (p.Pro2053Ser)
 dbSNP
8g.99776825dupCA2688068076VPS13Bc.7373dup (p.Thr2459AsnfsTer10)
n.7443dup
c.*3055dup (n.*3055dup)
c.7298dup (p.Thr2434AsnfsTer10)
n.378-1857dup
c.7370dup (p.Thr2458AsnfsTer10)
c.7295dup (p.Thr2433AsnfsTer10)
c.6995dup (p.Thr2333AsnfsTer10)
c.4259dup (p.Thr1421AsnfsTer10)
c.3152dup (p.Thr1052AsnfsTer10)
n.1830+5654dup
c.7178dup (p.Thr2394AsnfsTer10)
c.2930dup (p.Thr978AsnfsTer10)
c.6158dup (p.Thr2054AsnfsTer10)
 gnomAD v4
8g.99776825C>ACA371875640VPS13Bc.7373C>A (p.Pro2458Gln)
n.7443C>A
c.*3055C>A (n.*3055C>A)
c.7298C>A (p.Pro2433Gln)
n.378-1857C>A
c.7370C>A (p.Pro2457Gln)
c.7295C>A (p.Pro2432Gln)
c.6995C>A (p.Pro2332Gln)
c.4259C>A (p.Pro1420Gln)
c.3152C>A (p.Pro1051Gln)
n.1830+5653G>T
c.7178C>A (p.Pro2393Gln)
c.2930C>A (p.Pro977Gln)
c.6158C>A (p.Pro2053Gln)
8g.99776825C>GCA371875641VPS13Bc.7373C>G (p.Pro2458Arg)
n.7443C>G
c.*3055C>G (n.*3055C>G)
c.7298C>G (p.Pro2433Arg)
n.378-1857C>G
c.7370C>G (p.Pro2457Arg)
c.7295C>G (p.Pro2432Arg)
c.6995C>G (p.Pro2332Arg)
c.4259C>G (p.Pro1420Arg)
c.3152C>G (p.Pro1051Arg)
n.1830+5653G>C
c.7178C>G (p.Pro2393Arg)
c.2930C>G (p.Pro977Arg)
c.6158C>G (p.Pro2053Arg)
8g.99776825C>TCA371875642VPS13Bc.7373C>T (p.Pro2458Leu)
n.7443C>T
c.*3055C>T (n.*3055C>T)
c.7298C>T (p.Pro2433Leu)
n.378-1857C>T
c.7370C>T (p.Pro2457Leu)
c.7295C>T (p.Pro2432Leu)
c.6995C>T (p.Pro2332Leu)
c.4259C>T (p.Pro1420Leu)
c.3152C>T (p.Pro1051Leu)
n.1830+5653G>A
c.7178C>T (p.Pro2393Leu)
c.2930C>T (p.Pro977Leu)
c.6158C>T (p.Pro2053Leu)
8g.99776826A>CCA462449164VPS13Bc.7374A>C (p.Pro2458=)
n.7444A>C
c.*3056A>C (n.*3056A>C)
c.7299A>C (p.Pro2433=)
n.378-1856A>C
c.7371A>C (p.Pro2457=)
c.7296A>C (p.Pro2432=)
c.6996A>C (p.Pro2332=)
c.4260A>C (p.Pro1420=)
c.3153A>C (p.Pro1051=)
n.1830+5652T>G
c.7179A>C (p.Pro2393=)
c.2931A>C (p.Pro977=)
c.6159A>C (p.Pro2053=)
8g.99776826A>GCA462449165VPS13Bc.7374A>G (p.Pro2458=)
n.7444A>G
c.*3056A>G (n.*3056A>G)
c.7299A>G (p.Pro2433=)
n.378-1856A>G
c.7371A>G (p.Pro2457=)
c.7296A>G (p.Pro2432=)
c.6996A>G (p.Pro2332=)
c.4260A>G (p.Pro1420=)
c.3153A>G (p.Pro1051=)
n.1830+5652T>C
c.7179A>G (p.Pro2393=)
c.2931A>G (p.Pro977=)
c.6159A>G (p.Pro2053=)
 ClinVar dbSNP
8g.99776826A>TCA462449166VPS13Bc.7374A>T (p.Pro2458=)
n.7444A>T
c.*3056A>T (n.*3056A>T)
c.7299A>T (p.Pro2433=)
n.378-1856A>T
c.7371A>T (p.Pro2457=)
c.7296A>T (p.Pro2432=)
c.6996A>T (p.Pro2332=)
c.4260A>T (p.Pro1420=)
c.3153A>T (p.Pro1051=)
n.1830+5652T>A
c.7179A>T (p.Pro2393=)
c.2931A>T (p.Pro977=)
c.6159A>T (p.Pro2053=)
8g.99776827A>CCA371875643VPS13Bc.7375A>C (p.Thr2459Pro)
n.7445A>C
c.*3057A>C (n.*3057A>C)
c.7300A>C (p.Thr2434Pro)
n.378-1855A>C
c.7372A>C (p.Thr2458Pro)
c.7297A>C (p.Thr2433Pro)
c.6997A>C (p.Thr2333Pro)
c.4261A>C (p.Thr1421Pro)
c.3154A>C (p.Thr1052Pro)
n.1830+5651T>G
c.7180A>C (p.Thr2394Pro)
c.2932A>C (p.Thr978Pro)
c.6160A>C (p.Thr2054Pro)
8g.99776827A>GCA4824189VPS13Bc.7375A>G (p.Thr2459Ala)
n.7445A>G
c.*3057A>G (n.*3057A>G)
c.7300A>G (p.Thr2434Ala)
n.378-1855A>G
c.7372A>G (p.Thr2458Ala)
c.7297A>G (p.Thr2433Ala)
c.6997A>G (p.Thr2333Ala)
c.4261A>G (p.Thr1421Ala)
c.3154A>G (p.Thr1052Ala)
n.1830+5651T>C
c.7180A>G (p.Thr2394Ala)
c.2932A>G (p.Thr978Ala)
c.6160A>G (p.Thr2054Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.99776827A>TCA371875644VPS13Bc.7375A>T (p.Thr2459Ser)
n.7445A>T
c.*3057A>T (n.*3057A>T)
c.7300A>T (p.Thr2434Ser)
n.378-1855A>T
c.7372A>T (p.Thr2458Ser)
c.7297A>T (p.Thr2433Ser)
c.6997A>T (p.Thr2333Ser)
c.4261A>T (p.Thr1421Ser)
c.3154A>T (p.Thr1052Ser)
n.1830+5651T>A
c.7180A>T (p.Thr2394Ser)
c.2932A>T (p.Thr978Ser)
c.6160A>T (p.Thr2054Ser)
8g.99776828C>ACA371875645VPS13Bc.7376C>A (p.Thr2459Lys)
n.7446C>A
c.*3058C>A (n.*3058C>A)
c.7301C>A (p.Thr2434Lys)
n.378-1854C>A
c.7373C>A (p.Thr2458Lys)
c.7298C>A (p.Thr2433Lys)
c.6998C>A (p.Thr2333Lys)
c.4262C>A (p.Thr1421Lys)
c.3155C>A (p.Thr1052Lys)
n.1830+5650G>T
c.7181C>A (p.Thr2394Lys)
c.2933C>A (p.Thr978Lys)
c.6161C>A (p.Thr2054Lys)
8g.99776828C>GCA371875646VPS13Bc.7376C>G (p.Thr2459Arg)
n.7446C>G
c.*3058C>G (n.*3058C>G)
c.7301C>G (p.Thr2434Arg)
n.378-1854C>G
c.7373C>G (p.Thr2458Arg)
c.7298C>G (p.Thr2433Arg)
c.6998C>G (p.Thr2333Arg)
c.4262C>G (p.Thr1421Arg)
c.3155C>G (p.Thr1052Arg)
n.1830+5650G>C
c.7181C>G (p.Thr2394Arg)
c.2933C>G (p.Thr978Arg)
c.6161C>G (p.Thr2054Arg)
 dbSNP gnomAD v4
8g.99776828C>TCA371875647VPS13Bc.7376C>T (p.Thr2459Ile)
n.7446C>T
c.*3058C>T (n.*3058C>T)
c.7301C>T (p.Thr2434Ile)
n.378-1854C>T
c.7373C>T (p.Thr2458Ile)
c.7298C>T (p.Thr2433Ile)
c.6998C>T (p.Thr2333Ile)
c.4262C>T (p.Thr1421Ile)
c.3155C>T (p.Thr1052Ile)
n.1830+5650G>A
c.7181C>T (p.Thr2394Ile)
c.2933C>T (p.Thr978Ile)
c.6161C>T (p.Thr2054Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99776829A>CCA462449167VPS13Bc.7377A>C (p.Thr2459=)
n.7447A>C
c.*3059A>C (n.*3059A>C)
c.7302A>C (p.Thr2434=)
n.378-1853A>C
c.7374A>C (p.Thr2458=)
c.7299A>C (p.Thr2433=)
c.6999A>C (p.Thr2333=)
c.4263A>C (p.Thr1421=)
c.3156A>C (p.Thr1052=)
n.1830+5649T>G
c.7182A>C (p.Thr2394=)
c.2934A>C (p.Thr978=)
c.6162A>C (p.Thr2054=)
8g.99776829A>GCA462449168VPS13Bc.7377A>G (p.Thr2459=)
n.7447A>G
c.*3059A>G (n.*3059A>G)
c.7302A>G (p.Thr2434=)
n.378-1853A>G
c.7374A>G (p.Thr2458=)
c.7299A>G (p.Thr2433=)
c.6999A>G (p.Thr2333=)
c.4263A>G (p.Thr1421=)
c.3156A>G (p.Thr1052=)
n.1830+5649T>C
c.7182A>G (p.Thr2394=)
c.2934A>G (p.Thr978=)
c.6162A>G (p.Thr2054=)
 ClinVar dbSNP
8g.99776829A>TCA462449169VPS13Bc.7377A>T (p.Thr2459=)
n.7447A>T
c.*3059A>T (n.*3059A>T)
c.7302A>T (p.Thr2434=)
n.378-1853A>T
c.7374A>T (p.Thr2458=)
c.7299A>T (p.Thr2433=)
c.6999A>T (p.Thr2333=)
c.4263A>T (p.Thr1421=)
c.3156A>T (p.Thr1052=)
n.1830+5649T>A
c.7182A>T (p.Thr2394=)
c.2934A>T (p.Thr978=)
c.6162A>T (p.Thr2054=)
8g.99776830G>ACA371875648VPS13Bc.7378G>A (p.Ala2460Thr)
n.7448G>A
c.*3060G>A (n.*3060G>A)
c.7303G>A (p.Ala2435Thr)
n.378-1852G>A
c.7375G>A (p.Ala2459Thr)
c.7300G>A (p.Ala2434Thr)
c.7000G>A (p.Ala2334Thr)
c.4264G>A (p.Ala1422Thr)
c.3157G>A (p.Ala1053Thr)
n.1830+5648C>T
c.7183G>A (p.Ala2395Thr)
c.2935G>A (p.Ala979Thr)
c.6163G>A (p.Ala2055Thr)
 gnomAD v4
8g.99776830G>CCA371875649VPS13Bc.7378G>C (p.Ala2460Pro)
n.7448G>C
c.*3060G>C (n.*3060G>C)
c.7303G>C (p.Ala2435Pro)
n.378-1852G>C
c.7375G>C (p.Ala2459Pro)
c.7300G>C (p.Ala2434Pro)
c.7000G>C (p.Ala2334Pro)
c.4264G>C (p.Ala1422Pro)
c.3157G>C (p.Ala1053Pro)
n.1830+5648C>G
c.7183G>C (p.Ala2395Pro)
c.2935G>C (p.Ala979Pro)
c.6163G>C (p.Ala2055Pro)
8g.99776830G>TCA371875650VPS13Bc.7378G>T (p.Ala2460Ser)
n.7448G>T
c.*3060G>T (n.*3060G>T)
c.7303G>T (p.Ala2435Ser)
n.378-1852G>T
c.7375G>T (p.Ala2459Ser)
c.7300G>T (p.Ala2434Ser)
c.7000G>T (p.Ala2334Ser)
c.4264G>T (p.Ala1422Ser)
c.3157G>T (p.Ala1053Ser)
n.1830+5648C>A
c.7183G>T (p.Ala2395Ser)
c.2935G>T (p.Ala979Ser)
c.6163G>T (p.Ala2055Ser)
8g.99776831C>ACA371875651VPS13Bc.7379C>A (p.Ala2460Asp)
n.7449C>A
c.*3061C>A (n.*3061C>A)
c.7304C>A (p.Ala2435Asp)
n.378-1851C>A
c.7376C>A (p.Ala2459Asp)
c.7301C>A (p.Ala2434Asp)
c.7001C>A (p.Ala2334Asp)
c.4265C>A (p.Ala1422Asp)
c.3158C>A (p.Ala1053Asp)
n.1830+5647G>T
c.7184C>A (p.Ala2395Asp)
c.2936C>A (p.Ala979Asp)
c.6164C>A (p.Ala2055Asp)
8g.99776831C>GCA371875652VPS13Bc.7379C>G (p.Ala2460Gly)
n.7449C>G
c.*3061C>G (n.*3061C>G)
c.7304C>G (p.Ala2435Gly)
n.378-1851C>G
c.7376C>G (p.Ala2459Gly)
c.7301C>G (p.Ala2434Gly)
c.7001C>G (p.Ala2334Gly)
c.4265C>G (p.Ala1422Gly)
c.3158C>G (p.Ala1053Gly)
n.1830+5647G>C
c.7184C>G (p.Ala2395Gly)
c.2936C>G (p.Ala979Gly)
c.6164C>G (p.Ala2055Gly)
8g.99776831C>TCA4824190VPS13Bc.7379C>T (p.Ala2460Val)
n.7449C>T
c.*3061C>T (n.*3061C>T)
c.7304C>T (p.Ala2435Val)
n.378-1851C>T
c.7376C>T (p.Ala2459Val)
c.7301C>T (p.Ala2434Val)
c.7001C>T (p.Ala2334Val)
c.4265C>T (p.Ala1422Val)
c.3158C>T (p.Ala1053Val)
n.1830+5647G>A
c.7184C>T (p.Ala2395Val)
c.2936C>T (p.Ala979Val)
c.6164C>T (p.Ala2055Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776832C>ACA183041719VPS13Bc.7380C>A (p.Ala2460=)
n.7450C>A
c.*3062C>A (n.*3062C>A)
c.7305C>A (p.Ala2435=)
n.378-1850C>A
c.7377C>A (p.Ala2459=)
c.7302C>A (p.Ala2434=)
c.7002C>A (p.Ala2334=)
c.4266C>A (p.Ala1422=)
c.3159C>A (p.Ala1053=)
n.1830+5646G>T
c.7185C>A (p.Ala2395=)
c.2937C>A (p.Ala979=)
c.6165C>A (p.Ala2055=)
 dbSNP
8g.99776832C>GCA462449170VPS13Bc.7380C>G (p.Ala2460=)
n.7450C>G
c.*3062C>G (n.*3062C>G)
c.7305C>G (p.Ala2435=)
n.378-1850C>G
c.7377C>G (p.Ala2459=)
c.7302C>G (p.Ala2434=)
c.7002C>G (p.Ala2334=)
c.4266C>G (p.Ala1422=)
c.3159C>G (p.Ala1053=)
n.1830+5646G>C
c.7185C>G (p.Ala2395=)
c.2937C>G (p.Ala979=)
c.6165C>G (p.Ala2055=)
8g.99776832C>TCA462449171VPS13Bc.7380C>T (p.Ala2460=)
n.7450C>T
c.*3062C>T (n.*3062C>T)
c.7305C>T (p.Ala2435=)
n.378-1850C>T
c.7377C>T (p.Ala2459=)
c.7302C>T (p.Ala2434=)
c.7002C>T (p.Ala2334=)
c.4266C>T (p.Ala1422=)
c.3159C>T (p.Ala1053=)
n.1830+5646G>A
c.7185C>T (p.Ala2395=)
c.2937C>T (p.Ala979=)
c.6165C>T (p.Ala2055=)
 ClinVar gnomAD v4
8g.99776833C>ACA371875654VPS13Bc.7381C>A (p.Leu2461Met)
n.7451C>A
c.*3063C>A (n.*3063C>A)
c.7306C>A (p.Leu2436Met)
n.378-1849C>A
c.7378C>A (p.Leu2460Met)
c.7303C>A (p.Leu2435Met)
c.7003C>A (p.Leu2335Met)
c.4267C>A (p.Leu1423Met)
c.3160C>A (p.Leu1054Met)
n.1830+5645G>T
c.7186C>A (p.Leu2396Met)
c.2938C>A (p.Leu980Met)
c.6166C>A (p.Leu2056Met)
8g.99776833C>GCA371875653VPS13Bc.7381C>G (p.Leu2461Val)
n.7451C>G
c.*3063C>G (n.*3063C>G)
c.7306C>G (p.Leu2436Val)
n.378-1849C>G
c.7378C>G (p.Leu2460Val)
c.7303C>G (p.Leu2435Val)
c.7003C>G (p.Leu2335Val)
c.4267C>G (p.Leu1423Val)
c.3160C>G (p.Leu1054Val)
n.1830+5645G>C
c.7186C>G (p.Leu2396Val)
c.2938C>G (p.Leu980Val)
c.6166C>G (p.Leu2056Val)
8g.99776833C>TCA4824191VPS13Bc.7381C>T (p.Leu2461=)
n.7451C>T
c.*3063C>T (n.*3063C>T)
c.7306C>T (p.Leu2436=)
n.378-1849C>T
c.7378C>T (p.Leu2460=)
c.7303C>T (p.Leu2435=)
c.7003C>T (p.Leu2335=)
c.4267C>T (p.Leu1423=)
c.3160C>T (p.Leu1054=)
n.1830+5645G>A
c.7186C>T (p.Leu2396=)
c.2938C>T (p.Leu980=)
c.6166C>T (p.Leu2056=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776834T>ACA371875655VPS13Bc.7382T>A (p.Leu2461Gln)
n.7452T>A
c.*3064T>A (n.*3064T>A)
c.7307T>A (p.Leu2436Gln)
n.378-1848T>A
c.7379T>A (p.Leu2460Gln)
c.7304T>A (p.Leu2435Gln)
c.7004T>A (p.Leu2335Gln)
c.4268T>A (p.Leu1423Gln)
c.3161T>A (p.Leu1054Gln)
n.1830+5644A>T
c.7187T>A (p.Leu2396Gln)
c.2939T>A (p.Leu980Gln)
c.6167T>A (p.Leu2056Gln)
8g.99776834T>CCA371875656VPS13Bc.7382T>C (p.Leu2461Pro)
n.7452T>C
c.*3064T>C (n.*3064T>C)
c.7307T>C (p.Leu2436Pro)
n.378-1848T>C
c.7379T>C (p.Leu2460Pro)
c.7304T>C (p.Leu2435Pro)
c.7004T>C (p.Leu2335Pro)
c.4268T>C (p.Leu1423Pro)
c.3161T>C (p.Leu1054Pro)
n.1830+5644A>G
c.7187T>C (p.Leu2396Pro)
c.2939T>C (p.Leu980Pro)
c.6167T>C (p.Leu2056Pro)
8g.99776834T>GCA371875657VPS13Bc.7382T>G (p.Leu2461Arg)
n.7452T>G
c.*3064T>G (n.*3064T>G)
c.7307T>G (p.Leu2436Arg)
n.378-1848T>G
c.7379T>G (p.Leu2460Arg)
c.7304T>G (p.Leu2435Arg)
c.7004T>G (p.Leu2335Arg)
c.4268T>G (p.Leu1423Arg)
c.3161T>G (p.Leu1054Arg)
n.1830+5644A>C
c.7187T>G (p.Leu2396Arg)
c.2939T>G (p.Leu980Arg)
c.6167T>G (p.Leu2056Arg)
8g.99776835G>ACA462449172VPS13Bc.7383G>A (p.Leu2461=)
n.7453G>A
c.*3065G>A (n.*3065G>A)
c.7308G>A (p.Leu2436=)
n.378-1847G>A
c.7380G>A (p.Leu2460=)
c.7305G>A (p.Leu2435=)
c.7005G>A (p.Leu2335=)
c.4269G>A (p.Leu1423=)
c.3162G>A (p.Leu1054=)
n.1830+5643C>T
c.7188G>A (p.Leu2396=)
c.2940G>A (p.Leu980=)
c.6168G>A (p.Leu2056=)
 gnomAD v4
8g.99776835G>CCA462449174VPS13Bc.7383G>C (p.Leu2461=)
n.7453G>C
c.*3065G>C (n.*3065G>C)
c.7308G>C (p.Leu2436=)
n.378-1847G>C
c.7380G>C (p.Leu2460=)
c.7305G>C (p.Leu2435=)
c.7005G>C (p.Leu2335=)
c.4269G>C (p.Leu1423=)
c.3162G>C (p.Leu1054=)
n.1830+5643C>G
c.7188G>C (p.Leu2396=)
c.2940G>C (p.Leu980=)
c.6168G>C (p.Leu2056=)
8g.99776835G>TCA462449173VPS13Bc.7383G>T (p.Leu2461=)
n.7453G>T
c.*3065G>T (n.*3065G>T)
c.7308G>T (p.Leu2436=)
n.378-1847G>T
c.7380G>T (p.Leu2460=)
c.7305G>T (p.Leu2435=)
c.7005G>T (p.Leu2335=)
c.4269G>T (p.Leu1423=)
c.3162G>T (p.Leu1054=)
n.1830+5643C>A
c.7188G>T (p.Leu2396=)
c.2940G>T (p.Leu980=)
c.6168G>T (p.Leu2056=)
 ClinVar
8g.99776836G>ACA371875658VPS13Bc.7384G>A (p.Ala2462Thr)
n.7454G>A
c.*3066G>A (n.*3066G>A)
c.7309G>A (p.Ala2437Thr)
n.378-1846G>A
c.7381G>A (p.Ala2461Thr)
c.7306G>A (p.Ala2436Thr)
c.7006G>A (p.Ala2336Thr)
c.4270G>A (p.Ala1424Thr)
c.3163G>A (p.Ala1055Thr)
n.1830+5642C>T
c.7189G>A (p.Ala2397Thr)
c.2941G>A (p.Ala981Thr)
c.6169G>A (p.Ala2057Thr)
8g.99776836G>CCA371875659VPS13Bc.7384G>C (p.Ala2462Pro)
n.7454G>C
c.*3066G>C (n.*3066G>C)
c.7309G>C (p.Ala2437Pro)
n.378-1846G>C
c.7381G>C (p.Ala2461Pro)
c.7306G>C (p.Ala2436Pro)
c.7006G>C (p.Ala2336Pro)
c.4270G>C (p.Ala1424Pro)
c.3163G>C (p.Ala1055Pro)
n.1830+5642C>G
c.7189G>C (p.Ala2397Pro)
c.2941G>C (p.Ala981Pro)
c.6169G>C (p.Ala2057Pro)
8g.99776836G>TCA371875660VPS13Bc.7384G>T (p.Ala2462Ser)
n.7454G>T
c.*3066G>T (n.*3066G>T)
c.7309G>T (p.Ala2437Ser)
n.378-1846G>T
c.7381G>T (p.Ala2461Ser)
c.7306G>T (p.Ala2436Ser)
c.7006G>T (p.Ala2336Ser)
c.4270G>T (p.Ala1424Ser)
c.3163G>T (p.Ala1055Ser)
n.1830+5642C>A
c.7189G>T (p.Ala2397Ser)
c.2941G>T (p.Ala981Ser)
c.6169G>T (p.Ala2057Ser)
8g.99776837C>ACA371875661VPS13Bc.7385C>A (p.Ala2462Asp)
n.7455C>A
c.*3067C>A (n.*3067C>A)
c.7310C>A (p.Ala2437Asp)
n.378-1845C>A
c.7382C>A (p.Ala2461Asp)
c.7307C>A (p.Ala2436Asp)
c.7007C>A (p.Ala2336Asp)
c.4271C>A (p.Ala1424Asp)
c.3164C>A (p.Ala1055Asp)
n.1830+5641G>T
c.7190C>A (p.Ala2397Asp)
c.2942C>A (p.Ala981Asp)
c.6170C>A (p.Ala2057Asp)
8g.99776837C>GCA371875662VPS13Bc.7385C>G (p.Ala2462Gly)
n.7455C>G
c.*3067C>G (n.*3067C>G)
c.7310C>G (p.Ala2437Gly)
n.378-1845C>G
c.7382C>G (p.Ala2461Gly)
c.7307C>G (p.Ala2436Gly)
c.7007C>G (p.Ala2336Gly)
c.4271C>G (p.Ala1424Gly)
c.3164C>G (p.Ala1055Gly)
n.1830+5641G>C
c.7190C>G (p.Ala2397Gly)
c.2942C>G (p.Ala981Gly)
c.6170C>G (p.Ala2057Gly)
 gnomAD v4
8g.99776837C>TCA371875663VPS13Bc.7385C>T (p.Ala2462Val)
n.7455C>T
c.*3067C>T (n.*3067C>T)
c.7310C>T (p.Ala2437Val)
n.378-1845C>T
c.7382C>T (p.Ala2461Val)
c.7307C>T (p.Ala2436Val)
c.7007C>T (p.Ala2336Val)
c.4271C>T (p.Ala1424Val)
c.3164C>T (p.Ala1055Val)
n.1830+5641G>A
c.7190C>T (p.Ala2397Val)
c.2942C>T (p.Ala981Val)
c.6170C>T (p.Ala2057Val)
 gnomAD v4
8g.99776838T>ACA462449175VPS13Bc.7386T>A (p.Ala2462=)
n.7456T>A
c.*3068T>A (n.*3068T>A)
c.7311T>A (p.Ala2437=)
n.378-1844T>A
c.7383T>A (p.Ala2461=)
c.7308T>A (p.Ala2436=)
c.7008T>A (p.Ala2336=)
c.4272T>A (p.Ala1424=)
c.3165T>A (p.Ala1055=)
n.1830+5640A>T
c.7191T>A (p.Ala2397=)
c.2943T>A (p.Ala981=)
c.6171T>A (p.Ala2057=)
8g.99776838T>CCA462449176VPS13Bc.7386T>C (p.Ala2462=)
n.7456T>C
c.*3068T>C (n.*3068T>C)
c.7311T>C (p.Ala2437=)
n.378-1844T>C
c.7383T>C (p.Ala2461=)
c.7308T>C (p.Ala2436=)
c.7008T>C (p.Ala2336=)
c.4272T>C (p.Ala1424=)
c.3165T>C (p.Ala1055=)
n.1830+5640A>G
c.7191T>C (p.Ala2397=)
c.2943T>C (p.Ala981=)
c.6171T>C (p.Ala2057=)
8g.99776838T>GCA462449177VPS13Bc.7386T>G (p.Ala2462=)
n.7456T>G
c.*3068T>G (n.*3068T>G)
c.7311T>G (p.Ala2437=)
n.378-1844T>G
c.7383T>G (p.Ala2461=)
c.7308T>G (p.Ala2436=)
c.7008T>G (p.Ala2336=)
c.4272T>G (p.Ala1424=)
c.3165T>G (p.Ala1055=)
n.1830+5640A>C
c.7191T>G (p.Ala2397=)
c.2943T>G (p.Ala981=)
c.6171T>G (p.Ala2057=)
 ClinVar dbSNP
8g.99776838_99776839insAGGCACA915946659VPS13Bc.7386_7387insAGGCA (p.Ala2463ArgfsTer?)
n.7456_7457insAGGCA
c.*3068_*3069insAGGCA (n.*3068_*3069insAGGCA)
c.7311_7312insAGGCA (p.Ala2438ArgfsTer?)
n.378-1844_378-1843insAGGCA
c.7383_7384insAGGCA (p.Ala2462ArgfsTer?)
c.7308_7309insAGGCA (p.Ala2437ArgfsTer?)
c.7008_7009insAGGCA (p.Ala2337ArgfsTer?)
c.4272_4273insAGGCA (p.Ala1425ArgfsTer?)
c.3165_3166insAGGCA (p.Ala1056ArgfsTer?)
n.1830+5639_1830+5640insTGCCT
c.7191_7192insAGGCA (p.Ala2398ArgfsTer?)
c.2943_2944insAGGCA (p.Ala982ArgfsTer?)
c.6171_6172insAGGCA (p.Ala2058ArgfsTer?)
 ClinVar dbSNP
8g.99776839G>ACA371875664VPS13Bc.7387G>A (p.Ala2463Thr)
n.7457G>A
c.*3069G>A (n.*3069G>A)
c.7312G>A (p.Ala2438Thr)
n.378-1843G>A
c.7384G>A (p.Ala2462Thr)
c.7309G>A (p.Ala2437Thr)
c.7009G>A (p.Ala2337Thr)
c.4273G>A (p.Ala1425Thr)
c.3166G>A (p.Ala1056Thr)
n.1830+5639C>T
c.7192G>A (p.Ala2398Thr)
c.2944G>A (p.Ala982Thr)
c.6172G>A (p.Ala2058Thr)
 gnomAD v4
8g.99776839G>CCA371875665VPS13Bc.7387G>C (p.Ala2463Pro)
n.7457G>C
c.*3069G>C (n.*3069G>C)
c.7312G>C (p.Ala2438Pro)
n.378-1843G>C
c.7384G>C (p.Ala2462Pro)
c.7309G>C (p.Ala2437Pro)
c.7009G>C (p.Ala2337Pro)
c.4273G>C (p.Ala1425Pro)
c.3166G>C (p.Ala1056Pro)
n.1830+5639C>G
c.7192G>C (p.Ala2398Pro)
c.2944G>C (p.Ala982Pro)
c.6172G>C (p.Ala2058Pro)
8g.99776839G>TCA371875666VPS13Bc.7387G>T (p.Ala2463Ser)
n.7457G>T
c.*3069G>T (n.*3069G>T)
c.7312G>T (p.Ala2438Ser)
n.378-1843G>T
c.7384G>T (p.Ala2462Ser)
c.7309G>T (p.Ala2437Ser)
c.7009G>T (p.Ala2337Ser)
c.4273G>T (p.Ala1425Ser)
c.3166G>T (p.Ala1056Ser)
n.1830+5639C>A
c.7192G>T (p.Ala2398Ser)
c.2944G>T (p.Ala982Ser)
c.6172G>T (p.Ala2058Ser)
 gnomAD v4
8g.99776839dupCA913128137VPS13Bc.7387dup (p.Ala2463GlyfsTer6)
n.7457dup
c.*3069dup (n.*3069dup)
c.7312dup (p.Ala2438GlyfsTer6)
n.378-1843dup
c.7384dup (p.Ala2462GlyfsTer6)
c.7309dup (p.Ala2437GlyfsTer6)
c.7009dup (p.Ala2337GlyfsTer6)
c.4273dup (p.Ala1425GlyfsTer6)
c.3166dup (p.Ala1056GlyfsTer6)
n.1830+5639dup
c.7192dup (p.Ala2398GlyfsTer6)
c.2944dup (p.Ala982GlyfsTer6)
c.6172dup (p.Ala2058GlyfsTer6)
8g.99776840C>ACA371875669VPS13Bc.7388C>A (p.Ala2463Asp)
n.7458C>A
c.*3070C>A (n.*3070C>A)
c.7313C>A (p.Ala2438Asp)
n.378-1842C>A
c.7385C>A (p.Ala2462Asp)
c.7310C>A (p.Ala2437Asp)
c.7010C>A (p.Ala2337Asp)
c.4274C>A (p.Ala1425Asp)
c.3167C>A (p.Ala1056Asp)
n.1830+5638G>T
c.7193C>A (p.Ala2398Asp)
c.2945C>A (p.Ala982Asp)
c.6173C>A (p.Ala2058Asp)
8g.99776840C>GCA371875667VPS13Bc.7388C>G (p.Ala2463Gly)
n.7458C>G
c.*3070C>G (n.*3070C>G)
c.7313C>G (p.Ala2438Gly)
n.378-1842C>G
c.7385C>G (p.Ala2462Gly)
c.7310C>G (p.Ala2437Gly)
c.7010C>G (p.Ala2337Gly)
c.4274C>G (p.Ala1425Gly)
c.3167C>G (p.Ala1056Gly)
n.1830+5638G>C
c.7193C>G (p.Ala2398Gly)
c.2945C>G (p.Ala982Gly)
c.6173C>G (p.Ala2058Gly)
8g.99776840C>TCA371875668VPS13Bc.7388C>T (p.Ala2463Val)
n.7458C>T
c.*3070C>T (n.*3070C>T)
c.7313C>T (p.Ala2438Val)
n.378-1842C>T
c.7385C>T (p.Ala2462Val)
c.7310C>T (p.Ala2437Val)
c.7010C>T (p.Ala2337Val)
c.4274C>T (p.Ala1425Val)
c.3167C>T (p.Ala1056Val)
n.1830+5638G>A
c.7193C>T (p.Ala2398Val)
c.2945C>T (p.Ala982Val)
c.6173C>T (p.Ala2058Val)
8g.99776841dupCA658821174VPS13Bc.7389dup (p.Cys2464LeufsTer5)
n.7459dup
c.*3071dup (n.*3071dup)
c.7314dup (p.Cys2439LeufsTer5)
n.378-1841dup
c.7386dup (p.Cys2463LeufsTer5)
c.7311dup (p.Cys2438LeufsTer5)
c.7011dup (p.Cys2338LeufsTer5)
c.4275dup (p.Cys1426LeufsTer5)
c.3168dup (p.Cys1057LeufsTer5)
n.1830+5638dup
c.7194dup (p.Cys2399LeufsTer5)
c.2946dup (p.Cys983LeufsTer5)
c.6174dup (p.Cys2059LeufsTer5)
 ClinVar dbSNP gnomAD v4
8g.99776841C>ACA462449178VPS13Bc.7389C>A (p.Ala2463=)
n.7459C>A
c.*3071C>A (n.*3071C>A)
c.7314C>A (p.Ala2438=)
n.378-1841C>A
c.7386C>A (p.Ala2462=)
c.7311C>A (p.Ala2437=)
c.7011C>A (p.Ala2337=)
c.4275C>A (p.Ala1425=)
c.3168C>A (p.Ala1056=)
n.1830+5637G>T
c.7194C>A (p.Ala2398=)
c.2946C>A (p.Ala982=)
c.6174C>A (p.Ala2058=)
8g.99776841C>GCA462449179VPS13Bc.7389C>G (p.Ala2463=)
n.7459C>G
c.*3071C>G (n.*3071C>G)
c.7314C>G (p.Ala2438=)
n.378-1841C>G
c.7386C>G (p.Ala2462=)
c.7311C>G (p.Ala2437=)
c.7011C>G (p.Ala2337=)
c.4275C>G (p.Ala1425=)
c.3168C>G (p.Ala1056=)
n.1830+5637G>C
c.7194C>G (p.Ala2398=)
c.2946C>G (p.Ala982=)
c.6174C>G (p.Ala2058=)
8g.99776841C>TCA462449180VPS13Bc.7389C>T (p.Ala2463=)
n.7459C>T
c.*3071C>T (n.*3071C>T)
c.7314C>T (p.Ala2438=)
n.378-1841C>T
c.7386C>T (p.Ala2462=)
c.7311C>T (p.Ala2437=)
c.7011C>T (p.Ala2337=)
c.4275C>T (p.Ala1425=)
c.3168C>T (p.Ala1056=)
n.1830+5637G>A
c.7194C>T (p.Ala2398=)
c.2946C>T (p.Ala982=)
c.6174C>T (p.Ala2058=)
8g.99776842T>ACA371875670VPS13Bc.7390T>A (p.Cys2464Ser)
n.7460T>A
c.*3072T>A (n.*3072T>A)
c.7315T>A (p.Cys2439Ser)
n.378-1840T>A
c.7387T>A (p.Cys2463Ser)
c.7312T>A (p.Cys2438Ser)
c.7012T>A (p.Cys2338Ser)
c.4276T>A (p.Cys1426Ser)
c.3169T>A (p.Cys1057Ser)
n.1830+5636A>T
c.7195T>A (p.Cys2399Ser)
c.2947T>A (p.Cys983Ser)
c.6175T>A (p.Cys2059Ser)
8g.99776842T>CCA371875671VPS13Bc.7390T>C (p.Cys2464Arg)
n.7460T>C
c.*3072T>C (n.*3072T>C)
c.7315T>C (p.Cys2439Arg)
n.378-1840T>C
c.7387T>C (p.Cys2463Arg)
c.7312T>C (p.Cys2438Arg)
c.7012T>C (p.Cys2338Arg)
c.4276T>C (p.Cys1426Arg)
c.3169T>C (p.Cys1057Arg)
n.1830+5636A>G
c.7195T>C (p.Cys2399Arg)
c.2947T>C (p.Cys983Arg)
c.6175T>C (p.Cys2059Arg)
8g.99776842T>GCA371875672VPS13Bc.7390T>G (p.Cys2464Gly)
n.7460T>G
c.*3072T>G (n.*3072T>G)
c.7315T>G (p.Cys2439Gly)
n.378-1840T>G
c.7387T>G (p.Cys2463Gly)
c.7312T>G (p.Cys2438Gly)
c.7012T>G (p.Cys2338Gly)
c.4276T>G (p.Cys1426Gly)
c.3169T>G (p.Cys1057Gly)
n.1830+5636A>C
c.7195T>G (p.Cys2399Gly)
c.2947T>G (p.Cys983Gly)
c.6175T>G (p.Cys2059Gly)
8g.99776843G>ACA371875673VPS13Bc.7391G>A (p.Cys2464Tyr)
n.7461G>A
c.*3073G>A (n.*3073G>A)
c.7316G>A (p.Cys2439Tyr)
n.378-1839G>A
c.7388G>A (p.Cys2463Tyr)
c.7313G>A (p.Cys2438Tyr)
c.7013G>A (p.Cys2338Tyr)
c.4277G>A (p.Cys1426Tyr)
c.3170G>A (p.Cys1057Tyr)
n.1830+5635C>T
c.7196G>A (p.Cys2399Tyr)
c.2948G>A (p.Cys983Tyr)
c.6176G>A (p.Cys2059Tyr)
 dbSNP
8g.99776843G>CCA371875674VPS13Bc.7391G>C (p.Cys2464Ser)
n.7461G>C
c.*3073G>C (n.*3073G>C)
c.7316G>C (p.Cys2439Ser)
n.378-1839G>C
c.7388G>C (p.Cys2463Ser)
c.7313G>C (p.Cys2438Ser)
c.7013G>C (p.Cys2338Ser)
c.4277G>C (p.Cys1426Ser)
c.3170G>C (p.Cys1057Ser)
n.1830+5635C>G
c.7196G>C (p.Cys2399Ser)
c.2948G>C (p.Cys983Ser)
c.6176G>C (p.Cys2059Ser)
8g.99776843G>TCA371875675VPS13Bc.7391G>T (p.Cys2464Phe)
n.7461G>T
c.*3073G>T (n.*3073G>T)
c.7316G>T (p.Cys2439Phe)
n.378-1839G>T
c.7388G>T (p.Cys2463Phe)
c.7313G>T (p.Cys2438Phe)
c.7013G>T (p.Cys2338Phe)
c.4277G>T (p.Cys1426Phe)
c.3170G>T (p.Cys1057Phe)
n.1830+5635C>A
c.7196G>T (p.Cys2399Phe)
c.2948G>T (p.Cys983Phe)
c.6176G>T (p.Cys2059Phe)
8g.99776844T>ACA371875676VPS13Bc.7392T>A (p.Cys2464Ter)
n.7462T>A
c.*3074T>A (n.*3074T>A)
c.7317T>A (p.Cys2439Ter)
n.378-1838T>A
c.7389T>A (p.Cys2463Ter)
c.7314T>A (p.Cys2438Ter)
c.7014T>A (p.Cys2338Ter)
c.4278T>A (p.Cys1426Ter)
c.3171T>A (p.Cys1057Ter)
n.1830+5634A>T
c.7197T>A (p.Cys2399Ter)
c.2949T>A (p.Cys983Ter)
c.6177T>A (p.Cys2059Ter)
 ClinVar
8g.99776844T>CCA462449181VPS13Bc.7392T>C (p.Cys2464=)
n.7462T>C
c.*3074T>C (n.*3074T>C)
c.7317T>C (p.Cys2439=)
n.378-1838T>C
c.7389T>C (p.Cys2463=)
c.7314T>C (p.Cys2438=)
c.7014T>C (p.Cys2338=)
c.4278T>C (p.Cys1426=)
c.3171T>C (p.Cys1057=)
n.1830+5634A>G
c.7197T>C (p.Cys2399=)
c.2949T>C (p.Cys983=)
c.6177T>C (p.Cys2059=)
8g.99776844T>GCA371875677VPS13Bc.7392T>G (p.Cys2464Trp)
n.7462T>G
c.*3074T>G (n.*3074T>G)
c.7317T>G (p.Cys2439Trp)
n.378-1838T>G
c.7389T>G (p.Cys2463Trp)
c.7314T>G (p.Cys2438Trp)
c.7014T>G (p.Cys2338Trp)
c.4278T>G (p.Cys1426Trp)
c.3171T>G (p.Cys1057Trp)
n.1830+5634A>C
c.7197T>G (p.Cys2399Trp)
c.2949T>G (p.Cys983Trp)
c.6177T>G (p.Cys2059Trp)
8g.99776845A>CCA371875678VPS13Bc.7393A>C (p.Thr2465Pro)
n.7463A>C
c.*3075A>C (n.*3075A>C)
c.7318A>C (p.Thr2440Pro)
n.378-1837A>C
c.7390A>C (p.Thr2464Pro)
c.7315A>C (p.Thr2439Pro)
c.7015A>C (p.Thr2339Pro)
c.4279A>C (p.Thr1427Pro)
c.3172A>C (p.Thr1058Pro)
n.1830+5633T>G
c.7198A>C (p.Thr2400Pro)
c.2950A>C (p.Thr984Pro)
c.6178A>C (p.Thr2060Pro)
8g.99776845A>GCA371875679VPS13Bc.7393A>G (p.Thr2465Ala)
n.7463A>G
c.*3075A>G (n.*3075A>G)
c.7318A>G (p.Thr2440Ala)
n.378-1837A>G
c.7390A>G (p.Thr2464Ala)
c.7315A>G (p.Thr2439Ala)
c.7015A>G (p.Thr2339Ala)
c.4279A>G (p.Thr1427Ala)
c.3172A>G (p.Thr1058Ala)
n.1830+5633T>C
c.7198A>G (p.Thr2400Ala)
c.2950A>G (p.Thr984Ala)
c.6178A>G (p.Thr2060Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.99776845A>TCA371875680VPS13Bc.7393A>T (p.Thr2465Ser)
n.7463A>T
c.*3075A>T (n.*3075A>T)
c.7318A>T (p.Thr2440Ser)
n.378-1837A>T
c.7390A>T (p.Thr2464Ser)
c.7315A>T (p.Thr2439Ser)
c.7015A>T (p.Thr2339Ser)
c.4279A>T (p.Thr1427Ser)
c.3172A>T (p.Thr1058Ser)
n.1830+5633T>A
c.7198A>T (p.Thr2400Ser)
c.2950A>T (p.Thr984Ser)
c.6178A>T (p.Thr2060Ser)
8g.99776846C>ACA371875681VPS13Bc.7394C>A (p.Thr2465Asn)
n.7464C>A
c.*3076C>A (n.*3076C>A)
c.7319C>A (p.Thr2440Asn)
n.378-1836C>A
c.7391C>A (p.Thr2464Asn)
c.7316C>A (p.Thr2439Asn)
c.7016C>A (p.Thr2339Asn)
c.4280C>A (p.Thr1427Asn)
c.3173C>A (p.Thr1058Asn)
n.1830+5632G>T
c.7199C>A (p.Thr2400Asn)
c.2951C>A (p.Thr984Asn)
c.6179C>A (p.Thr2060Asn)
 gnomAD v4
8g.99776846C>GCA371875682VPS13Bc.7394C>G (p.Thr2465Ser)
n.7464C>G
c.*3076C>G (n.*3076C>G)
c.7319C>G (p.Thr2440Ser)
n.378-1836C>G
c.7391C>G (p.Thr2464Ser)
c.7316C>G (p.Thr2439Ser)
c.7016C>G (p.Thr2339Ser)
c.4280C>G (p.Thr1427Ser)
c.3173C>G (p.Thr1058Ser)
n.1830+5632G>C
c.7199C>G (p.Thr2400Ser)
c.2951C>G (p.Thr984Ser)
c.6179C>G (p.Thr2060Ser)
 gnomAD v4
8g.99776846C>TCA4824192VPS13Bc.7394C>T (p.Thr2465Ile)
n.7464C>T
c.*3076C>T (n.*3076C>T)
c.7319C>T (p.Thr2440Ile)
n.378-1836C>T
c.7391C>T (p.Thr2464Ile)
c.7316C>T (p.Thr2439Ile)
c.7016C>T (p.Thr2339Ile)
c.4280C>T (p.Thr1427Ile)
c.3173C>T (p.Thr1058Ile)
n.1830+5632G>A
c.7199C>T (p.Thr2400Ile)
c.2951C>T (p.Thr984Ile)
c.6179C>T (p.Thr2060Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776847C>ACA462449182VPS13Bc.7395C>A (p.Thr2465=)
n.7465C>A
c.*3077C>A (n.*3077C>A)
c.7320C>A (p.Thr2440=)
n.378-1835C>A
c.7392C>A (p.Thr2464=)
c.7317C>A (p.Thr2439=)
c.7017C>A (p.Thr2339=)
c.4281C>A (p.Thr1427=)
c.3174C>A (p.Thr1058=)
n.1830+5631G>T
c.7200C>A (p.Thr2400=)
c.2952C>A (p.Thr984=)
c.6180C>A (p.Thr2060=)
8g.99776847C>GCA462449183VPS13Bc.7395C>G (p.Thr2465=)
n.7465C>G
c.*3077C>G (n.*3077C>G)
c.7320C>G (p.Thr2440=)
n.378-1835C>G
c.7392C>G (p.Thr2464=)
c.7317C>G (p.Thr2439=)
c.7017C>G (p.Thr2339=)
c.4281C>G (p.Thr1427=)
c.3174C>G (p.Thr1058=)
n.1830+5631G>C
c.7200C>G (p.Thr2400=)
c.2952C>G (p.Thr984=)
c.6180C>G (p.Thr2060=)
8g.99776847C>TCA462449184VPS13Bc.7395C>T (p.Thr2465=)
n.7465C>T
c.*3077C>T (n.*3077C>T)
c.7320C>T (p.Thr2440=)
n.378-1835C>T
c.7392C>T (p.Thr2464=)
c.7317C>T (p.Thr2439=)
c.7017C>T (p.Thr2339=)
c.4281C>T (p.Thr1427=)
c.3174C>T (p.Thr1058=)
n.1830+5631G>A
c.7200C>T (p.Thr2400=)
c.2952C>T (p.Thr984=)
c.6180C>T (p.Thr2060=)
8g.99776848A>CCA462449185VPS13Bc.7396A>C (p.Arg2466=)
n.7466A>C
c.*3078A>C (n.*3078A>C)
c.7321A>C (p.Arg2441=)
n.378-1834A>C
c.7393A>C (p.Arg2465=)
c.7318A>C (p.Arg2440=)
c.7018A>C (p.Arg2340=)
c.4282A>C (p.Arg1428=)
c.3175A>C (p.Arg1059=)
n.1830+5630T>G
c.7201A>C (p.Arg2401=)
c.2953A>C (p.Arg985=)
c.6181A>C (p.Arg2061=)
8g.99776848A>GCA371875683VPS13Bc.7396A>G (p.Arg2466Gly)
n.7466A>G
c.*3078A>G (n.*3078A>G)
c.7321A>G (p.Arg2441Gly)
n.378-1834A>G
c.7393A>G (p.Arg2465Gly)
c.7318A>G (p.Arg2440Gly)
c.7018A>G (p.Arg2340Gly)
c.4282A>G (p.Arg1428Gly)
c.3175A>G (p.Arg1059Gly)
n.1830+5630T>C
c.7201A>G (p.Arg2401Gly)
c.2953A>G (p.Arg985Gly)
c.6181A>G (p.Arg2061Gly)
8g.99776848A>TCA371875684VPS13Bc.7396A>T (p.Arg2466Ter)
n.7466A>T
c.*3078A>T (n.*3078A>T)
c.7321A>T (p.Arg2441Ter)
n.378-1834A>T
c.7393A>T (p.Arg2465Ter)
c.7318A>T (p.Arg2440Ter)
c.7018A>T (p.Arg2340Ter)
c.4282A>T (p.Arg1428Ter)
c.3175A>T (p.Arg1059Ter)
n.1830+5630T>A
c.7201A>T (p.Arg2401Ter)
c.2953A>T (p.Arg985Ter)
c.6181A>T (p.Arg2061Ter)
8g.99776849G>ACA371875685VPS13Bc.7397G>A (p.Arg2466Lys)
n.7467G>A
c.*3079G>A (n.*3079G>A)
c.7322G>A (p.Arg2441Lys)
n.378-1833G>A
c.7394G>A (p.Arg2465Lys)
c.7319G>A (p.Arg2440Lys)
c.7019G>A (p.Arg2340Lys)
c.4283G>A (p.Arg1428Lys)
c.3176G>A (p.Arg1059Lys)
n.1830+5629C>T
c.7202G>A (p.Arg2401Lys)
c.2954G>A (p.Arg985Lys)
c.6182G>A (p.Arg2061Lys)
8g.99776849G>CCA371875686VPS13Bc.7397G>C (p.Arg2466Thr)
n.7467G>C
c.*3079G>C (n.*3079G>C)
c.7322G>C (p.Arg2441Thr)
n.378-1833G>C
c.7394G>C (p.Arg2465Thr)
c.7319G>C (p.Arg2440Thr)
c.7019G>C (p.Arg2340Thr)
c.4283G>C (p.Arg1428Thr)
c.3176G>C (p.Arg1059Thr)
n.1830+5629C>G
c.7202G>C (p.Arg2401Thr)
c.2954G>C (p.Arg985Thr)
c.6182G>C (p.Arg2061Thr)
 gnomAD v4
8g.99776849G>TCA371875687VPS13Bc.7397G>T (p.Arg2466Ile)
n.7467G>T
c.*3079G>T (n.*3079G>T)
c.7322G>T (p.Arg2441Ile)
n.378-1833G>T
c.7394G>T (p.Arg2465Ile)
c.7319G>T (p.Arg2440Ile)
c.7019G>T (p.Arg2340Ile)
c.4283G>T (p.Arg1428Ile)
c.3176G>T (p.Arg1059Ile)
n.1830+5629C>A
c.7202G>T (p.Arg2401Ile)
c.2954G>T (p.Arg985Ile)
c.6182G>T (p.Arg2061Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.99776850A>CCA371875688VPS13Bc.7398A>C (p.Arg2466Ser)
n.7468A>C
c.*3080A>C (n.*3080A>C)
c.7323A>C (p.Arg2441Ser)
n.378-1832A>C
c.7395A>C (p.Arg2465Ser)
c.7320A>C (p.Arg2440Ser)
c.7020A>C (p.Arg2340Ser)
c.4284A>C (p.Arg1428Ser)
c.3177A>C (p.Arg1059Ser)
n.1830+5628T>G
c.7203A>C (p.Arg2401Ser)
c.2955A>C (p.Arg985Ser)
c.6183A>C (p.Arg2061Ser)
8g.99776850A>GCA462449186VPS13Bc.7398A>G (p.Arg2466=)
n.7468A>G
c.*3080A>G (n.*3080A>G)
c.7323A>G (p.Arg2441=)
n.378-1832A>G
c.7395A>G (p.Arg2465=)
c.7320A>G (p.Arg2440=)
c.7020A>G (p.Arg2340=)
c.4284A>G (p.Arg1428=)
c.3177A>G (p.Arg1059=)
n.1830+5628T>C
c.7203A>G (p.Arg2401=)
c.2955A>G (p.Arg985=)
c.6183A>G (p.Arg2061=)
8g.99776850A>TCA371875689VPS13Bc.7398A>T (p.Arg2466Ser)
n.7468A>T
c.*3080A>T (n.*3080A>T)
c.7323A>T (p.Arg2441Ser)
n.378-1832A>T
c.7395A>T (p.Arg2465Ser)
c.7320A>T (p.Arg2440Ser)
c.7020A>T (p.Arg2340Ser)
c.4284A>T (p.Arg1428Ser)
c.3177A>T (p.Arg1059Ser)
n.1830+5628T>A
c.7203A>T (p.Arg2401Ser)
c.2955A>T (p.Arg985Ser)
c.6183A>T (p.Arg2061Ser)
8g.99776851G>ACA371875690VPS13Bc.7399G>A (p.Val2467Ile)
n.7469G>A
c.*3081G>A (n.*3081G>A)
c.7324G>A (p.Val2442Ile)
n.378-1831G>A
c.7396G>A (p.Val2466Ile)
c.7321G>A (p.Val2441Ile)
c.7021G>A (p.Val2341Ile)
c.4285G>A (p.Val1429Ile)
c.3178G>A (p.Val1060Ile)
n.1830+5627C>T
c.7204G>A (p.Val2402Ile)
c.2956G>A (p.Val986Ile)
c.6184G>A (p.Val2062Ile)
 gnomAD v4 COSMIC COSMIC
8g.99776851G>CCA371875691VPS13Bc.7399G>C (p.Val2467Leu)
n.7469G>C
c.*3081G>C (n.*3081G>C)
c.7324G>C (p.Val2442Leu)
n.378-1831G>C
c.7396G>C (p.Val2466Leu)
c.7321G>C (p.Val2441Leu)
c.7021G>C (p.Val2341Leu)
c.4285G>C (p.Val1429Leu)
c.3178G>C (p.Val1060Leu)
n.1830+5627C>G
c.7204G>C (p.Val2402Leu)
c.2956G>C (p.Val986Leu)
c.6184G>C (p.Val2062Leu)
8g.99776851G>TCA371875692VPS13Bc.7399G>T (p.Val2467Phe)
n.7469G>T
c.*3081G>T (n.*3081G>T)
c.7324G>T (p.Val2442Phe)
n.378-1831G>T
c.7396G>T (p.Val2466Phe)
c.7321G>T (p.Val2441Phe)
c.7021G>T (p.Val2341Phe)
c.4285G>T (p.Val1429Phe)
c.3178G>T (p.Val1060Phe)
n.1830+5627C>A
c.7204G>T (p.Val2402Phe)
c.2956G>T (p.Val986Phe)
c.6184G>T (p.Val2062Phe)
8g.99776852T>ACA371875693VPS13Bc.7400T>A (p.Val2467Asp)
n.7470T>A
c.*3082T>A (n.*3082T>A)
c.7325T>A (p.Val2442Asp)
n.378-1830T>A
c.7397T>A (p.Val2466Asp)
c.7322T>A (p.Val2441Asp)
c.7022T>A (p.Val2341Asp)
c.4286T>A (p.Val1429Asp)
c.3179T>A (p.Val1060Asp)
n.1830+5626A>T
c.7205T>A (p.Val2402Asp)
c.2957T>A (p.Val986Asp)
c.6185T>A (p.Val2062Asp)
 gnomAD v4
8g.99776852T>CCA371875694VPS13Bc.7400T>C (p.Val2467Ala)
n.7470T>C
c.*3082T>C (n.*3082T>C)
c.7325T>C (p.Val2442Ala)
n.378-1830T>C
c.7397T>C (p.Val2466Ala)
c.7322T>C (p.Val2441Ala)
c.7022T>C (p.Val2341Ala)
c.4286T>C (p.Val1429Ala)
c.3179T>C (p.Val1060Ala)
n.1830+5626A>G
c.7205T>C (p.Val2402Ala)
c.2957T>C (p.Val986Ala)
c.6185T>C (p.Val2062Ala)
 gnomAD v4
8g.99776852T>GCA371875695VPS13Bc.7400T>G (p.Val2467Gly)
n.7470T>G
c.*3082T>G (n.*3082T>G)
c.7325T>G (p.Val2442Gly)
n.378-1830T>G
c.7397T>G (p.Val2466Gly)
c.7322T>G (p.Val2441Gly)
c.7022T>G (p.Val2341Gly)
c.4286T>G (p.Val1429Gly)
c.3179T>G (p.Val1060Gly)
n.1830+5626A>C
c.7205T>G (p.Val2402Gly)
c.2957T>G (p.Val986Gly)
c.6185T>G (p.Val2062Gly)
8g.99776853T>ACA462449187VPS13Bc.7401T>A (p.Val2467=)
n.7471T>A
c.*3083T>A (n.*3083T>A)
c.7326T>A (p.Val2442=)
n.378-1829T>A
c.7398T>A (p.Val2466=)
c.7323T>A (p.Val2441=)
c.7023T>A (p.Val2341=)
c.4287T>A (p.Val1429=)
c.3180T>A (p.Val1060=)
n.1830+5625A>T
c.7206T>A (p.Val2402=)
c.2958T>A (p.Val986=)
c.6186T>A (p.Val2062=)
 ClinVar dbSNP gnomAD v4
8g.99776853T>CCA462449188VPS13Bc.7401T>C (p.Val2467=)
n.7471T>C
c.*3083T>C (n.*3083T>C)
c.7326T>C (p.Val2442=)
n.378-1829T>C
c.7398T>C (p.Val2466=)
c.7323T>C (p.Val2441=)
c.7023T>C (p.Val2341=)
c.4287T>C (p.Val1429=)
c.3180T>C (p.Val1060=)
n.1830+5625A>G
c.7206T>C (p.Val2402=)
c.2958T>C (p.Val986=)
c.6186T>C (p.Val2062=)
 ClinVar gnomAD v4
8g.99776853T>GCA462449189VPS13Bc.7401T>G (p.Val2467=)
n.7471T>G
c.*3083T>G (n.*3083T>G)
c.7326T>G (p.Val2442=)
n.378-1829T>G
c.7398T>G (p.Val2466=)
c.7323T>G (p.Val2441=)
c.7023T>G (p.Val2341=)
c.4287T>G (p.Val1429=)
c.3180T>G (p.Val1060=)
n.1830+5625A>C
c.7206T>G (p.Val2402=)
c.2958T>G (p.Val986=)
c.6186T>G (p.Val2062=)
 gnomAD v4
8g.99776854G>ACA371875698VPS13Bc.7402G>A (p.Asp2468Asn)
n.7472G>A
c.*3084G>A (n.*3084G>A)
c.7327G>A (p.Asp2443Asn)
n.378-1828G>A
c.7399G>A (p.Asp2467Asn)
c.7324G>A (p.Asp2442Asn)
c.7024G>A (p.Asp2342Asn)
c.4288G>A (p.Asp1430Asn)
c.3181G>A (p.Asp1061Asn)
n.1830+5624C>T
c.7207G>A (p.Asp2403Asn)
c.2959G>A (p.Asp987Asn)
c.6187G>A (p.Asp2063Asn)
8g.99776854G>CCA371875697VPS13Bc.7402G>C (p.Asp2468His)
n.7472G>C
c.*3084G>C (n.*3084G>C)
c.7327G>C (p.Asp2443His)
n.378-1828G>C
c.7399G>C (p.Asp2467His)
c.7324G>C (p.Asp2442His)
c.7024G>C (p.Asp2342His)
c.4288G>C (p.Asp1430His)
c.3181G>C (p.Asp1061His)
n.1830+5624C>G
c.7207G>C (p.Asp2403His)
c.2959G>C (p.Asp987His)
c.6187G>C (p.Asp2063His)
8g.99776854G>TCA371875696VPS13Bc.7402G>T (p.Asp2468Tyr)
n.7472G>T
c.*3084G>T (n.*3084G>T)
c.7327G>T (p.Asp2443Tyr)
n.378-1828G>T
c.7399G>T (p.Asp2467Tyr)
c.7324G>T (p.Asp2442Tyr)
c.7024G>T (p.Asp2342Tyr)
c.4288G>T (p.Asp1430Tyr)
c.3181G>T (p.Asp1061Tyr)
n.1830+5624C>A
c.7207G>T (p.Asp2403Tyr)
c.2959G>T (p.Asp987Tyr)
c.6187G>T (p.Asp2063Tyr)
8g.99776855A>CCA371875699VPS13Bc.7403A>C (p.Asp2468Ala)
n.7473A>C
c.*3085A>C (n.*3085A>C)
c.7328A>C (p.Asp2443Ala)
n.378-1827A>C
c.7400A>C (p.Asp2467Ala)
c.7325A>C (p.Asp2442Ala)
c.7025A>C (p.Asp2342Ala)
c.4289A>C (p.Asp1430Ala)
c.3182A>C (p.Asp1061Ala)
n.1830+5623T>G
c.7208A>C (p.Asp2403Ala)
c.2960A>C (p.Asp987Ala)
c.6188A>C (p.Asp2063Ala)
 gnomAD v4
8g.99776855A>GCA371875700VPS13Bc.7403A>G (p.Asp2468Gly)
n.7473A>G
c.*3085A>G (n.*3085A>G)
c.7328A>G (p.Asp2443Gly)
n.378-1827A>G
c.7400A>G (p.Asp2467Gly)
c.7325A>G (p.Asp2442Gly)
c.7025A>G (p.Asp2342Gly)
c.4289A>G (p.Asp1430Gly)
c.3182A>G (p.Asp1061Gly)
n.1830+5623T>C
c.7208A>G (p.Asp2403Gly)
c.2960A>G (p.Asp987Gly)
c.6188A>G (p.Asp2063Gly)
 gnomAD v4
8g.99776855A>TCA371875701VPS13Bc.7403A>T (p.Asp2468Val)
n.7473A>T
c.*3085A>T (n.*3085A>T)
c.7328A>T (p.Asp2443Val)
n.378-1827A>T
c.7400A>T (p.Asp2467Val)
c.7325A>T (p.Asp2442Val)
c.7025A>T (p.Asp2342Val)
c.4289A>T (p.Asp1430Val)
c.3182A>T (p.Asp1061Val)
n.1830+5623T>A
c.7208A>T (p.Asp2403Val)
c.2960A>T (p.Asp987Val)
c.6188A>T (p.Asp2063Val)
8g.99776855_99776856insTTCTGGACAAGTTGGTGTGGAGCGAAATTTCA2556541256VPS13Bc.7403_7404insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2468_Ser2469insSerGlyGlnValGlyValGluArgAsnPhe)
n.7473_7474insTTCTGGACAAGTTGGTGTGGAGCGAAATTT
c.*3085_*3086insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (n.*3085_*3086insTTCTGGACAAGTTGGTGTGGAGCGAAATTT)
c.7328_7329insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2443_Ser2444insSerGlyGlnValGlyValGluArgAsnPhe)
n.378-1827_378-1826insTTCTGGACAAGTTGGTGTGGAGCGAAATTT
c.7400_7401insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2467_Ser2468insSerGlyGlnValGlyValGluArgAsnPhe)
c.7325_7326insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2442_Ser2443insSerGlyGlnValGlyValGluArgAsnPhe)
c.7025_7026insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2342_Ser2343insSerGlyGlnValGlyValGluArgAsnPhe)
c.4289_4290insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp1430_Ser1431insSerGlyGlnValGlyValGluArgAsnPhe)
c.3182_3183insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp1061_Ser1062insSerGlyGlnValGlyValGluArgAsnPhe)
n.1830+5622_1830+5623insAAATTTCGCTCCACACCAACTTGTCCAGAA
c.7208_7209insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2403_Ser2404insSerGlyGlnValGlyValGluArgAsnPhe)
c.2960_2961insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp987_Ser988insSerGlyGlnValGlyValGluArgAsnPhe)
c.6188_6189insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2063_Ser2064insSerGlyGlnValGlyValGluArgAsnPhe)
8g.99776856C>ACA371875702VPS13Bc.7404C>A (p.Asp2468Glu)
n.7474C>A
c.*3086C>A (n.*3086C>A)
c.7329C>A (p.Asp2443Glu)
n.378-1826C>A
c.7401C>A (p.Asp2467Glu)
c.7326C>A (p.Asp2442Glu)
c.7026C>A (p.Asp2342Glu)
c.4290C>A (p.Asp1430Glu)
c.3183C>A (p.Asp1061Glu)
n.1830+5622G>T
c.7209C>A (p.Asp2403Glu)
c.2961C>A (p.Asp987Glu)
c.6189C>A (p.Asp2063Glu)
8g.99776856C>GCA371875703VPS13Bc.7404C>G (p.Asp2468Glu)
n.7474C>G
c.*3086C>G (n.*3086C>G)
c.7329C>G (p.Asp2443Glu)
n.378-1826C>G
c.7401C>G (p.Asp2467Glu)
c.7326C>G (p.Asp2442Glu)
c.7026C>G (p.Asp2342Glu)
c.4290C>G (p.Asp1430Glu)
c.3183C>G (p.Asp1061Glu)
n.1830+5622G>C
c.7209C>G (p.Asp2403Glu)
c.2961C>G (p.Asp987Glu)
c.6189C>G (p.Asp2063Glu)
8g.99776856C>TCA462449190VPS13Bc.7404C>T (p.Asp2468=)
n.7474C>T
c.*3086C>T (n.*3086C>T)
c.7329C>T (p.Asp2443=)
n.378-1826C>T
c.7401C>T (p.Asp2467=)
c.7326C>T (p.Asp2442=)
c.7026C>T (p.Asp2342=)
c.4290C>T (p.Asp1430=)
c.3183C>T (p.Asp1061=)
n.1830+5622G>A
c.7209C>T (p.Asp2403=)
c.2961C>T (p.Asp987=)
c.6189C>T (p.Asp2063=)
 ClinVar dbSNP
8g.99776857T>ACA371875704VPS13Bc.7405T>A (p.Ser2469Thr)
n.7475T>A
c.*3087T>A (n.*3087T>A)
c.7330T>A (p.Ser2444Thr)
n.378-1825T>A
c.7402T>A (p.Ser2468Thr)
c.7327T>A (p.Ser2443Thr)
c.7027T>A (p.Ser2343Thr)
c.4291T>A (p.Ser1431Thr)
c.3184T>A (p.Ser1062Thr)
n.1830+5621A>T
c.7210T>A (p.Ser2404Thr)
c.2962T>A (p.Ser988Thr)
c.6190T>A (p.Ser2064Thr)
 ClinVar dbSNP
8g.99776857T>CCA4824193VPS13Bc.7405T>C (p.Ser2469Pro)
n.7475T>C
c.*3087T>C (n.*3087T>C)
c.7330T>C (p.Ser2444Pro)
n.378-1825T>C
c.7402T>C (p.Ser2468Pro)
c.7327T>C (p.Ser2443Pro)
c.7027T>C (p.Ser2343Pro)
c.4291T>C (p.Ser1431Pro)
c.3184T>C (p.Ser1062Pro)
n.1830+5621A>G
c.7210T>C (p.Ser2404Pro)
c.2962T>C (p.Ser988Pro)
c.6190T>C (p.Ser2064Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776857T>GCA371875705VPS13Bc.7405T>G (p.Ser2469Ala)
n.7475T>G
c.*3087T>G (n.*3087T>G)
c.7330T>G (p.Ser2444Ala)
n.378-1825T>G
c.7402T>G (p.Ser2468Ala)
c.7327T>G (p.Ser2443Ala)
c.7027T>G (p.Ser2343Ala)
c.4291T>G (p.Ser1431Ala)
c.3184T>G (p.Ser1062Ala)
n.1830+5621A>C
c.7210T>G (p.Ser2404Ala)
c.2962T>G (p.Ser988Ala)
c.6190T>G (p.Ser2064Ala)
8g.99776858C>ACA371875706VPS13Bc.7406C>A (p.Ser2469Tyr)
n.7476C>A
c.*3088C>A (n.*3088C>A)
c.7331C>A (p.Ser2444Tyr)
n.378-1824C>A
c.7403C>A (p.Ser2468Tyr)
c.7328C>A (p.Ser2443Tyr)
c.7028C>A (p.Ser2343Tyr)
c.4292C>A (p.Ser1431Tyr)
c.3185C>A (p.Ser1062Tyr)
n.1830+5620G>T
c.7211C>A (p.Ser2404Tyr)
c.2963C>A (p.Ser988Tyr)
c.6191C>A (p.Ser2064Tyr)
8g.99776858C>GCA371875707VPS13Bc.7406C>G (p.Ser2469Cys)
n.7476C>G
c.*3088C>G (n.*3088C>G)
c.7331C>G (p.Ser2444Cys)
n.378-1824C>G
c.7403C>G (p.Ser2468Cys)
c.7328C>G (p.Ser2443Cys)
c.7028C>G (p.Ser2343Cys)
c.4292C>G (p.Ser1431Cys)
c.3185C>G (p.Ser1062Cys)
n.1830+5620G>C
c.7211C>G (p.Ser2404Cys)
c.2963C>G (p.Ser988Cys)
c.6191C>G (p.Ser2064Cys)
8g.99776858C>TCA371875708VPS13Bc.7406C>T (p.Ser2469Phe)
n.7476C>T
c.*3088C>T (n.*3088C>T)
c.7331C>T (p.Ser2444Phe)
n.378-1824C>T
c.7403C>T (p.Ser2468Phe)
c.7328C>T (p.Ser2443Phe)
c.7028C>T (p.Ser2343Phe)
c.4292C>T (p.Ser1431Phe)
c.3185C>T (p.Ser1062Phe)
n.1830+5620G>A
c.7211C>T (p.Ser2404Phe)
c.2963C>T (p.Ser988Phe)
c.6191C>T (p.Ser2064Phe)
8g.99776859C>ACA462449193VPS13Bc.7407C>A (p.Ser2469=)
n.7477C>A
c.*3089C>A (n.*3089C>A)
c.7332C>A (p.Ser2444=)
n.378-1823C>A
c.7404C>A (p.Ser2468=)
c.7329C>A (p.Ser2443=)
c.7029C>A (p.Ser2343=)
c.4293C>A (p.Ser1431=)
c.3186C>A (p.Ser1062=)
n.1830+5619G>T
c.7212C>A (p.Ser2404=)
c.2964C>A (p.Ser988=)
c.6192C>A (p.Ser2064=)
8g.99776859C>GCA462449192VPS13Bc.7407C>G (p.Ser2469=)
n.7477C>G
c.*3089C>G (n.*3089C>G)
c.7332C>G (p.Ser2444=)
n.378-1823C>G
c.7404C>G (p.Ser2468=)
c.7329C>G (p.Ser2443=)
c.7029C>G (p.Ser2343=)
c.4293C>G (p.Ser1431=)
c.3186C>G (p.Ser1062=)
n.1830+5619G>C
c.7212C>G (p.Ser2404=)
c.2964C>G (p.Ser988=)
c.6192C>G (p.Ser2064=)
8g.99776859C>TCA462449191VPS13Bc.7407C>T (p.Ser2469=)
n.7477C>T
c.*3089C>T (n.*3089C>T)
c.7332C>T (p.Ser2444=)
n.378-1823C>T
c.7404C>T (p.Ser2468=)
c.7329C>T (p.Ser2443=)
c.7029C>T (p.Ser2343=)
c.4293C>T (p.Ser1431=)
c.3186C>T (p.Ser1062=)
n.1830+5619G>A
c.7212C>T (p.Ser2404=)
c.2964C>T (p.Ser988=)
c.6192C>T (p.Ser2064=)
8g.99776859_99776860insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAACCA2550671528VPS13Bc.7407_7408insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2470GlyfsTer59)
n.7477_7478insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC
c.*3089_*3090insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (n.*3089_*3090insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC)
c.7332_7333insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2445GlyfsTer59)
n.378-1823_378-1822insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC
c.7404_7405insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2469GlyfsTer59)
c.7329_7330insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2444GlyfsTer59)
c.7029_7030insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2344GlyfsTer59)
c.4293_4294insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys1432GlyfsTer59)
c.3186_3187insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys1063GlyfsTer59)
n.1830+5619_1830+5620insTTTGACCGGAATTTCACGCACTGAGAATGCGTAAATTGTAGAGGTAAACGAGCTATGCCAACCGACATTCAGTGGTTCTTTTTGAAACTCACCG
c.7212_7213insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2405GlyfsTer59)
c.2964_2965insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys989GlyfsTer59)
c.6192_6193insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2065GlyfsTer59)
8g.99776860T>ACA371875709VPS13Bc.7408T>A (p.Cys2470Ser)
n.7478T>A
c.*3090T>A (n.*3090T>A)
c.7333T>A (p.Cys2445Ser)
n.378-1822T>A
c.7405T>A (p.Cys2469Ser)
c.7330T>A (p.Cys2444Ser)
c.7030T>A (p.Cys2344Ser)
c.4294T>A (p.Cys1432Ser)
c.3187T>A (p.Cys1063Ser)
n.1830+5618A>T
c.7213T>A (p.Cys2405Ser)
c.2965T>A (p.Cys989Ser)
c.6193T>A (p.Cys2065Ser)
8g.99776860T>CCA371875710VPS13Bc.7408T>C (p.Cys2470Arg)
n.7478T>C
c.*3090T>C (n.*3090T>C)
c.7333T>C (p.Cys2445Arg)
n.378-1822T>C
c.7405T>C (p.Cys2469Arg)
c.7330T>C (p.Cys2444Arg)
c.7030T>C (p.Cys2344Arg)
c.4294T>C (p.Cys1432Arg)
c.3187T>C (p.Cys1063Arg)
n.1830+5618A>G
c.7213T>C (p.Cys2405Arg)
c.2965T>C (p.Cys989Arg)
c.6193T>C (p.Cys2065Arg)
8g.99776860T>GCA371875711VPS13Bc.7408T>G (p.Cys2470Gly)
n.7478T>G
c.*3090T>G (n.*3090T>G)
c.7333T>G (p.Cys2445Gly)
n.378-1822T>G
c.7405T>G (p.Cys2469Gly)
c.7330T>G (p.Cys2444Gly)
c.7030T>G (p.Cys2344Gly)
c.4294T>G (p.Cys1432Gly)
c.3187T>G (p.Cys1063Gly)
n.1830+5618A>C
c.7213T>G (p.Cys2405Gly)
c.2965T>G (p.Cys989Gly)
c.6193T>G (p.Cys2065Gly)
8g.99776861G>ACA371875713VPS13Bc.7409G>A (p.Cys2470Tyr)
n.7479G>A
c.*3091G>A (n.*3091G>A)
c.7334G>A (p.Cys2445Tyr)
n.378-1821G>A
c.7406G>A (p.Cys2469Tyr)
c.7331G>A (p.Cys2444Tyr)
c.7031G>A (p.Cys2344Tyr)
c.4295G>A (p.Cys1432Tyr)
c.3188G>A (p.Cys1063Tyr)
n.1830+5617C>T
c.7214G>A (p.Cys2405Tyr)
c.2966G>A (p.Cys989Tyr)
c.6194G>A (p.Cys2065Tyr)
8g.99776861G>CCA183041725VPS13Bc.7409G>C (p.Cys2470Ser)
n.7479G>C
c.*3091G>C (n.*3091G>C)
c.7334G>C (p.Cys2445Ser)
n.378-1821G>C
c.7406G>C (p.Cys2469Ser)
c.7331G>C (p.Cys2444Ser)
c.7031G>C (p.Cys2344Ser)
c.4295G>C (p.Cys1432Ser)
c.3188G>C (p.Cys1063Ser)
n.1830+5617C>G
c.7214G>C (p.Cys2405Ser)
c.2966G>C (p.Cys989Ser)
c.6194G>C (p.Cys2065Ser)
 ClinVar dbSNP gnomAD v4
8g.99776861G>TCA371875712VPS13Bc.7409G>T (p.Cys2470Phe)
n.7479G>T
c.*3091G>T (n.*3091G>T)
c.7334G>T (p.Cys2445Phe)
n.378-1821G>T
c.7406G>T (p.Cys2469Phe)
c.7331G>T (p.Cys2444Phe)
c.7031G>T (p.Cys2344Phe)
c.4295G>T (p.Cys1432Phe)
c.3188G>T (p.Cys1063Phe)
n.1830+5617C>A
c.7214G>T (p.Cys2405Phe)
c.2966G>T (p.Cys989Phe)
c.6194G>T (p.Cys2065Phe)
8g.99776862C>ACA371875714VPS13Bc.7410C>A (p.Cys2470Ter)
n.7480C>A
c.*3092C>A (n.*3092C>A)
c.7335C>A (p.Cys2445Ter)
n.378-1820C>A
c.7407C>A (p.Cys2469Ter)
c.7332C>A (p.Cys2444Ter)
c.7032C>A (p.Cys2344Ter)
c.4296C>A (p.Cys1432Ter)
c.3189C>A (p.Cys1063Ter)
n.1830+5616G>T
c.7215C>A (p.Cys2405Ter)
c.2967C>A (p.Cys989Ter)
c.6195C>A (p.Cys2065Ter)
8g.99776862C>GCA371875715VPS13Bc.7410C>G (p.Cys2470Trp)
n.7480C>G
c.*3092C>G (n.*3092C>G)
c.7335C>G (p.Cys2445Trp)
n.378-1820C>G
c.7407C>G (p.Cys2469Trp)
c.7332C>G (p.Cys2444Trp)
c.7032C>G (p.Cys2344Trp)
c.4296C>G (p.Cys1432Trp)
c.3189C>G (p.Cys1063Trp)
n.1830+5616G>C
c.7215C>G (p.Cys2405Trp)
c.2967C>G (p.Cys989Trp)
c.6195C>G (p.Cys2065Trp)
8g.99776862C>TCA462449194VPS13Bc.7410C>T (p.Cys2470=)
n.7480C>T
c.*3092C>T (n.*3092C>T)
c.7335C>T (p.Cys2445=)
n.378-1820C>T
c.7407C>T (p.Cys2469=)
c.7332C>T (p.Cys2444=)
c.7032C>T (p.Cys2344=)
c.4296C>T (p.Cys1432=)
c.3189C>T (p.Cys1063=)
n.1830+5616G>A
c.7215C>T (p.Cys2405=)
c.2967C>T (p.Cys989=)
c.6195C>T (p.Cys2065=)
8g.99776863T>ACA371875716VPS13Bc.7411T>A (p.Phe2471Ile)
n.7481T>A
c.*3093T>A (n.*3093T>A)
c.7336T>A (p.Phe2446Ile)
n.378-1819T>A
c.7408T>A (p.Phe2470Ile)
c.7333T>A (p.Phe2445Ile)
c.7033T>A (p.Phe2345Ile)
c.4297T>A (p.Phe1433Ile)
c.3190T>A (p.Phe1064Ile)
n.1830+5615A>T
c.7216T>A (p.Phe2406Ile)
c.2968T>A (p.Phe990Ile)
c.6196T>A (p.Phe2066Ile)
8g.99776863T>CCA371875717VPS13Bc.7411T>C (p.Phe2471Leu)
n.7481T>C
c.*3093T>C (n.*3093T>C)
c.7336T>C (p.Phe2446Leu)
n.378-1819T>C
c.7408T>C (p.Phe2470Leu)
c.7333T>C (p.Phe2445Leu)
c.7033T>C (p.Phe2345Leu)
c.4297T>C (p.Phe1433Leu)
c.3190T>C (p.Phe1064Leu)
n.1830+5615A>G
c.7216T>C (p.Phe2406Leu)
c.2968T>C (p.Phe990Leu)
c.6196T>C (p.Phe2066Leu)
8g.99776863T>GCA371875718VPS13Bc.7411T>G (p.Phe2471Val)
n.7481T>G
c.*3093T>G (n.*3093T>G)
c.7336T>G (p.Phe2446Val)
n.378-1819T>G
c.7408T>G (p.Phe2470Val)
c.7333T>G (p.Phe2445Val)
c.7033T>G (p.Phe2345Val)
c.4297T>G (p.Phe1433Val)
c.3190T>G (p.Phe1064Val)
n.1830+5615A>C
c.7216T>G (p.Phe2406Val)
c.2968T>G (p.Phe990Val)
c.6196T>G (p.Phe2066Val)
8g.99776864T>ACA371875721VPS13Bc.7412T>A (p.Phe2471Tyr)
n.7482T>A
c.*3094T>A (n.*3094T>A)
c.7337T>A (p.Phe2446Tyr)
n.378-1818T>A
c.7409T>A (p.Phe2470Tyr)
c.7334T>A (p.Phe2445Tyr)
c.7034T>A (p.Phe2345Tyr)
c.4298T>A (p.Phe1433Tyr)
c.3191T>A (p.Phe1064Tyr)
n.1830+5614A>T
c.7217T>A (p.Phe2406Tyr)
c.2969T>A (p.Phe990Tyr)
c.6197T>A (p.Phe2066Tyr)
8g.99776864T>CCA371875720VPS13Bc.7412T>C (p.Phe2471Ser)
n.7482T>C
c.*3094T>C (n.*3094T>C)
c.7337T>C (p.Phe2446Ser)
n.378-1818T>C
c.7409T>C (p.Phe2470Ser)
c.7334T>C (p.Phe2445Ser)
c.7034T>C (p.Phe2345Ser)
c.4298T>C (p.Phe1433Ser)
c.3191T>C (p.Phe1064Ser)
n.1830+5614A>G
c.7217T>C (p.Phe2406Ser)
c.2969T>C (p.Phe990Ser)
c.6197T>C (p.Phe2066Ser)
8g.99776864T>GCA371875719VPS13Bc.7412T>G (p.Phe2471Cys)
n.7482T>G
c.*3094T>G (n.*3094T>G)
c.7337T>G (p.Phe2446Cys)
n.378-1818T>G
c.7409T>G (p.Phe2470Cys)
c.7334T>G (p.Phe2445Cys)
c.7034T>G (p.Phe2345Cys)
c.4298T>G (p.Phe1433Cys)
c.3191T>G (p.Phe1064Cys)
n.1830+5614A>C
c.7217T>G (p.Phe2406Cys)
c.2969T>G (p.Phe990Cys)
c.6197T>G (p.Phe2066Cys)
8g.99776865T>ACA371875722VPS13Bc.7413T>A (p.Phe2471Leu)
n.7483T>A
c.*3095T>A (n.*3095T>A)
c.7338T>A (p.Phe2446Leu)
n.378-1817T>A
c.7410T>A (p.Phe2470Leu)
c.7335T>A (p.Phe2445Leu)
c.7035T>A (p.Phe2345Leu)
c.4299T>A (p.Phe1433Leu)
c.3192T>A (p.Phe1064Leu)
n.1830+5613A>T
c.7218T>A (p.Phe2406Leu)
c.2970T>A (p.Phe990Leu)
c.6198T>A (p.Phe2066Leu)
8g.99776865T>CCA202890VPS13Bc.7413T>C (p.Phe2471=)
n.7483T>C
c.*3095T>C (n.*3095T>C)
c.7338T>C (p.Phe2446=)
n.378-1817T>C
c.7410T>C (p.Phe2470=)
c.7335T>C (p.Phe2445=)
c.7035T>C (p.Phe2345=)
c.4299T>C (p.Phe1433=)
c.3192T>C (p.Phe1064=)
n.1830+5613A>G
c.7218T>C (p.Phe2406=)
c.2970T>C (p.Phe990=)
c.6198T>C (p.Phe2066=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776865T>GCA371875723VPS13Bc.7413T>G (p.Phe2471Leu)
n.7483T>G
c.*3095T>G (n.*3095T>G)
c.7338T>G (p.Phe2446Leu)
n.378-1817T>G
c.7410T>G (p.Phe2470Leu)
c.7335T>G (p.Phe2445Leu)
c.7035T>G (p.Phe2345Leu)
c.4299T>G (p.Phe1433Leu)
c.3192T>G (p.Phe1064Leu)
n.1830+5613A>C
c.7218T>G (p.Phe2406Leu)
c.2970T>G (p.Phe990Leu)
c.6198T>G (p.Phe2066Leu)
8g.99776866A>CCA371875724VPS13Bc.7414A>C (p.Thr2472Pro)
n.7484A>C
c.*3096A>C (n.*3096A>C)
c.7339A>C (p.Thr2447Pro)
n.378-1816A>C
c.7411A>C (p.Thr2471Pro)
c.7336A>C (p.Thr2446Pro)
c.7036A>C (p.Thr2346Pro)
c.4300A>C (p.Thr1434Pro)
c.3193A>C (p.Thr1065Pro)
n.1830+5612T>G
c.7219A>C (p.Thr2407Pro)
c.2971A>C (p.Thr991Pro)
c.6199A>C (p.Thr2067Pro)
8g.99776866A>GCA371875725VPS13Bc.7414A>G (p.Thr2472Ala)
n.7484A>G
c.*3096A>G (n.*3096A>G)
c.7339A>G (p.Thr2447Ala)
n.378-1816A>G
c.7411A>G (p.Thr2471Ala)
c.7336A>G (p.Thr2446Ala)
c.7036A>G (p.Thr2346Ala)
c.4300A>G (p.Thr1434Ala)
c.3193A>G (p.Thr1065Ala)
n.1830+5612T>C
c.7219A>G (p.Thr2407Ala)
c.2971A>G (p.Thr991Ala)
c.6199A>G (p.Thr2067Ala)
8g.99776866A>TCA371875726VPS13Bc.7414A>T (p.Thr2472Ser)
n.7484A>T
c.*3096A>T (n.*3096A>T)
c.7339A>T (p.Thr2447Ser)
n.378-1816A>T
c.7411A>T (p.Thr2471Ser)
c.7336A>T (p.Thr2446Ser)
c.7036A>T (p.Thr2346Ser)
c.4300A>T (p.Thr1434Ser)
c.3193A>T (p.Thr1065Ser)
n.1830+5612T>A
c.7219A>T (p.Thr2407Ser)
c.2971A>T (p.Thr991Ser)
c.6199A>T (p.Thr2067Ser)
8g.99776867C>ACA4824194VPS13Bc.7415C>A (p.Thr2472Asn)
n.7485C>A
c.*3097C>A (n.*3097C>A)
c.7340C>A (p.Thr2447Asn)
n.378-1815C>A
c.7412C>A (p.Thr2471Asn)
c.7337C>A (p.Thr2446Asn)
c.7037C>A (p.Thr2346Asn)
c.4301C>A (p.Thr1434Asn)
c.3194C>A (p.Thr1065Asn)
n.1830+5611G>T
c.7220C>A (p.Thr2407Asn)
c.2972C>A (p.Thr991Asn)
c.6200C>A (p.Thr2067Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776867C>GCA371875728VPS13Bc.7415C>G (p.Thr2472Ser)
n.7485C>G
c.*3097C>G (n.*3097C>G)
c.7340C>G (p.Thr2447Ser)
n.378-1815C>G
c.7412C>G (p.Thr2471Ser)
c.7337C>G (p.Thr2446Ser)
c.7037C>G (p.Thr2346Ser)
c.4301C>G (p.Thr1434Ser)
c.3194C>G (p.Thr1065Ser)
n.1830+5611G>C
c.7220C>G (p.Thr2407Ser)
c.2972C>G (p.Thr991Ser)
c.6200C>G (p.Thr2067Ser)
8g.99776867C>TCA371875727VPS13Bc.7415C>T (p.Thr2472Ile)
n.7485C>T
c.*3097C>T (n.*3097C>T)
c.7340C>T (p.Thr2447Ile)
n.378-1815C>T
c.7412C>T (p.Thr2471Ile)
c.7337C>T (p.Thr2446Ile)
c.7037C>T (p.Thr2346Ile)
c.4301C>T (p.Thr1434Ile)
c.3194C>T (p.Thr1065Ile)
n.1830+5611G>A
c.7220C>T (p.Thr2407Ile)
c.2972C>T (p.Thr991Ile)
c.6200C>T (p.Thr2067Ile)
8g.99776868C>ACA462449195VPS13Bc.7416C>A (p.Thr2472=)
n.7486C>A
c.*3098C>A (n.*3098C>A)
c.7341C>A (p.Thr2447=)
n.378-1814C>A
c.7413C>A (p.Thr2471=)
c.7338C>A (p.Thr2446=)
c.7038C>A (p.Thr2346=)
c.4302C>A (p.Thr1434=)
c.3195C>A (p.Thr1065=)
n.1830+5610G>T
c.7221C>A (p.Thr2407=)
c.2973C>A (p.Thr991=)
c.6201C>A (p.Thr2067=)
8g.99776868C>GCA462449196VPS13Bc.7416C>G (p.Thr2472=)
n.7486C>G
c.*3098C>G (n.*3098C>G)
c.7341C>G (p.Thr2447=)
n.378-1814C>G
c.7413C>G (p.Thr2471=)
c.7338C>G (p.Thr2446=)
c.7038C>G (p.Thr2346=)
c.4302C>G (p.Thr1434=)
c.3195C>G (p.Thr1065=)
n.1830+5610G>C
c.7221C>G (p.Thr2407=)
c.2973C>G (p.Thr991=)
c.6201C>G (p.Thr2067=)
8g.99776868C>TCA462449197VPS13Bc.7416C>T (p.Thr2472=)
n.7486C>T
c.*3098C>T (n.*3098C>T)
c.7341C>T (p.Thr2447=)
n.378-1814C>T
c.7413C>T (p.Thr2471=)
c.7338C>T (p.Thr2446=)
c.7038C>T (p.Thr2346=)
c.4302C>T (p.Thr1434=)
c.3195C>T (p.Thr1065=)
n.1830+5610G>A
c.7221C>T (p.Thr2407=)
c.2973C>T (p.Thr991=)
c.6201C>T (p.Thr2067=)
 gnomAD v4 COSMIC COSMIC
8g.99776869C>ACA371875729VPS13Bc.7417C>A (p.Pro2473Thr)
n.7487C>A
c.*3099C>A (n.*3099C>A)
c.7342C>A (p.Pro2448Thr)
n.378-1813C>A
c.7414C>A (p.Pro2472Thr)
c.7339C>A (p.Pro2447Thr)
c.7039C>A (p.Pro2347Thr)
c.4303C>A (p.Pro1435Thr)
c.3196C>A (p.Pro1066Thr)
n.1830+5609G>T
c.7222C>A (p.Pro2408Thr)
c.2974C>A (p.Pro992Thr)
c.6202C>A (p.Pro2068Thr)
8g.99776869C>GCA371875730VPS13Bc.7417C>G (p.Pro2473Ala)
n.7487C>G
c.*3099C>G (n.*3099C>G)
c.7342C>G (p.Pro2448Ala)
n.378-1813C>G
c.7414C>G (p.Pro2472Ala)
c.7339C>G (p.Pro2447Ala)
c.7039C>G (p.Pro2347Ala)
c.4303C>G (p.Pro1435Ala)
c.3196C>G (p.Pro1066Ala)
n.1830+5609G>C
c.7222C>G (p.Pro2408Ala)
c.2974C>G (p.Pro992Ala)
c.6202C>G (p.Pro2068Ala)
8g.99776869C>TCA371875731VPS13Bc.7417C>T (p.Pro2473Ser)
n.7487C>T
c.*3099C>T (n.*3099C>T)
c.7342C>T (p.Pro2448Ser)
n.378-1813C>T
c.7414C>T (p.Pro2472Ser)
c.7339C>T (p.Pro2447Ser)
c.7039C>T (p.Pro2347Ser)
c.4303C>T (p.Pro1435Ser)
c.3196C>T (p.Pro1066Ser)
n.1830+5609G>A
c.7222C>T (p.Pro2408Ser)
c.2974C>T (p.Pro992Ser)
c.6202C>T (p.Pro2068Ser)
 dbSNP COSMIC COSMIC
8g.99776870C>ACA371875732VPS13Bc.7418C>A (p.Pro2473Gln)
n.7488C>A
c.*3100C>A (n.*3100C>A)
c.7343C>A (p.Pro2448Gln)
n.378-1812C>A
c.7415C>A (p.Pro2472Gln)
c.7340C>A (p.Pro2447Gln)
c.7040C>A (p.Pro2347Gln)
c.4304C>A (p.Pro1435Gln)
c.3197C>A (p.Pro1066Gln)
n.1830+5608G>T
c.7223C>A (p.Pro2408Gln)
c.2975C>A (p.Pro992Gln)
c.6203C>A (p.Pro2068Gln)
8g.99776870C>GCA371875733VPS13Bc.7418C>G (p.Pro2473Arg)
n.7488C>G
c.*3100C>G (n.*3100C>G)
c.7343C>G (p.Pro2448Arg)
n.378-1812C>G
c.7415C>G (p.Pro2472Arg)
c.7340C>G (p.Pro2447Arg)
c.7040C>G (p.Pro2347Arg)
c.4304C>G (p.Pro1435Arg)
c.3197C>G (p.Pro1066Arg)
n.1830+5608G>C
c.7223C>G (p.Pro2408Arg)
c.2975C>G (p.Pro992Arg)
c.6203C>G (p.Pro2068Arg)
8g.99776870C>TCA371875734VPS13Bc.7418C>T (p.Pro2473Leu)
n.7488C>T
c.*3100C>T (n.*3100C>T)
c.7343C>T (p.Pro2448Leu)
n.378-1812C>T
c.7415C>T (p.Pro2472Leu)
c.7340C>T (p.Pro2447Leu)
c.7040C>T (p.Pro2347Leu)
c.4304C>T (p.Pro1435Leu)
c.3197C>T (p.Pro1066Leu)
n.1830+5608G>A
c.7223C>T (p.Pro2408Leu)
c.2975C>T (p.Pro992Leu)
c.6203C>T (p.Pro2068Leu)
 dbSNP COSMIC COSMIC
8g.99776871A>CCA462449198VPS13Bc.7419A>C (p.Pro2473=)
n.7489A>C
c.*3101A>C (n.*3101A>C)
c.7344A>C (p.Pro2448=)
n.378-1811A>C
c.7416A>C (p.Pro2472=)
c.7341A>C (p.Pro2447=)
c.7041A>C (p.Pro2347=)
c.4305A>C (p.Pro1435=)
c.3198A>C (p.Pro1066=)
n.1830+5607T>G
c.7224A>C (p.Pro2408=)
c.2976A>C (p.Pro992=)
c.6204A>C (p.Pro2068=)
8g.99776871A>GCA4824195VPS13Bc.7419A>G (p.Pro2473=)
n.7489A>G
c.*3101A>G (n.*3101A>G)
c.7344A>G (p.Pro2448=)
n.378-1811A>G
c.7416A>G (p.Pro2472=)
c.7341A>G (p.Pro2447=)
c.7041A>G (p.Pro2347=)
c.4305A>G (p.Pro1435=)
c.3198A>G (p.Pro1066=)
n.1830+5607T>C
c.7224A>G (p.Pro2408=)
c.2976A>G (p.Pro992=)
c.6204A>G (p.Pro2068=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776871A>TCA462449199VPS13Bc.7419A>T (p.Pro2473=)
n.7489A>T
c.*3101A>T (n.*3101A>T)
c.7344A>T (p.Pro2448=)
n.378-1811A>T
c.7416A>T (p.Pro2472=)
c.7341A>T (p.Pro2447=)
c.7041A>T (p.Pro2347=)
c.4305A>T (p.Pro1435=)
c.3198A>T (p.Pro1066=)
n.1830+5607T>A
c.7224A>T (p.Pro2408=)
c.2976A>T (p.Pro992=)
c.6204A>T (p.Pro2068=)
 ClinVar
8g.99776872T>ACA371875735VPS13Bc.7420T>A (p.Trp2474Arg)
n.7490T>A
c.*3102T>A (n.*3102T>A)
c.7345T>A (p.Trp2449Arg)
n.378-1810T>A
c.7417T>A (p.Trp2473Arg)
c.7342T>A (p.Trp2448Arg)
c.7042T>A (p.Trp2348Arg)
c.4306T>A (p.Trp1436Arg)
c.3199T>A (p.Trp1067Arg)
n.1830+5606A>T
c.7225T>A (p.Trp2409Arg)
c.2977T>A (p.Trp993Arg)
c.6205T>A (p.Trp2069Arg)
8g.99776872T>CCA183041732VPS13Bc.7420T>C (p.Trp2474Arg)
n.7490T>C
c.*3102T>C (n.*3102T>C)
c.7345T>C (p.Trp2449Arg)
n.378-1810T>C
c.7417T>C (p.Trp2473Arg)
c.7342T>C (p.Trp2448Arg)
c.7042T>C (p.Trp2348Arg)
c.4306T>C (p.Trp1436Arg)
c.3199T>C (p.Trp1067Arg)
n.1830+5606A>G
c.7225T>C (p.Trp2409Arg)
c.2977T>C (p.Trp993Arg)
c.6205T>C (p.Trp2069Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99776872T>GCA371875736VPS13Bc.7420T>G (p.Trp2474Gly)
n.7490T>G
c.*3102T>G (n.*3102T>G)
c.7345T>G (p.Trp2449Gly)
n.378-1810T>G
c.7417T>G (p.Trp2473Gly)
c.7342T>G (p.Trp2448Gly)
c.7042T>G (p.Trp2348Gly)
c.4306T>G (p.Trp1436Gly)
c.3199T>G (p.Trp1067Gly)
n.1830+5606A>C
c.7225T>G (p.Trp2409Gly)
c.2977T>G (p.Trp993Gly)
c.6205T>G (p.Trp2069Gly)
8g.99776873G>ACA371875739VPS13Bc.7421G>A (p.Trp2474Ter)
n.7491G>A
c.*3103G>A (n.*3103G>A)
c.7346G>A (p.Trp2449Ter)
n.378-1809G>A
c.7418G>A (p.Trp2473Ter)
c.7343G>A (p.Trp2448Ter)
c.7043G>A (p.Trp2348Ter)
c.4307G>A (p.Trp1436Ter)
c.3200G>A (p.Trp1067Ter)
n.1830+5605C>T
c.7226G>A (p.Trp2409Ter)
c.2978G>A (p.Trp993Ter)
c.6206G>A (p.Trp2069Ter)
8g.99776873G>CCA371875738VPS13Bc.7421G>C (p.Trp2474Ser)
n.7491G>C
c.*3103G>C (n.*3103G>C)
c.7346G>C (p.Trp2449Ser)
n.378-1809G>C
c.7418G>C (p.Trp2473Ser)
c.7343G>C (p.Trp2448Ser)
c.7043G>C (p.Trp2348Ser)
c.4307G>C (p.Trp1436Ser)
c.3200G>C (p.Trp1067Ser)
n.1830+5605C>G
c.7226G>C (p.Trp2409Ser)
c.2978G>C (p.Trp993Ser)
c.6206G>C (p.Trp2069Ser)
8g.99776873G>TCA371875737VPS13Bc.7421G>T (p.Trp2474Leu)
n.7491G>T
c.*3103G>T (n.*3103G>T)
c.7346G>T (p.Trp2449Leu)
n.378-1809G>T
c.7418G>T (p.Trp2473Leu)
c.7343G>T (p.Trp2448Leu)
c.7043G>T (p.Trp2348Leu)
c.4307G>T (p.Trp1436Leu)
c.3200G>T (p.Trp1067Leu)
n.1830+5605C>A
c.7226G>T (p.Trp2409Leu)
c.2978G>T (p.Trp993Leu)
c.6206G>T (p.Trp2069Leu)
 COSMIC COSMIC
8g.99776874G>ACA371875740VPS13Bc.7422G>A (p.Trp2474Ter)
n.7492G>A
c.*3104G>A (n.*3104G>A)
c.7347G>A (p.Trp2449Ter)
n.378-1808G>A
c.7419G>A (p.Trp2473Ter)
c.7344G>A (p.Trp2448Ter)
c.7044G>A (p.Trp2348Ter)
c.4308G>A (p.Trp1436Ter)
c.3201G>A (p.Trp1067Ter)
n.1830+5604C>T
c.7227G>A (p.Trp2409Ter)
c.2979G>A (p.Trp993Ter)
c.6207G>A (p.Trp2069Ter)
8g.99776874G>CCA371875742VPS13Bc.7422G>C (p.Trp2474Cys)
n.7492G>C
c.*3104G>C (n.*3104G>C)
c.7347G>C (p.Trp2449Cys)
n.378-1808G>C
c.7419G>C (p.Trp2473Cys)
c.7344G>C (p.Trp2448Cys)
c.7044G>C (p.Trp2348Cys)
c.4308G>C (p.Trp1436Cys)
c.3201G>C (p.Trp1067Cys)
n.1830+5604C>G
c.7227G>C (p.Trp2409Cys)
c.2979G>C (p.Trp993Cys)
c.6207G>C (p.Trp2069Cys)
8g.99776874G>TCA371875741VPS13Bc.7422G>T (p.Trp2474Cys)
n.7492G>T
c.*3104G>T (n.*3104G>T)
c.7347G>T (p.Trp2449Cys)
n.378-1808G>T
c.7419G>T (p.Trp2473Cys)
c.7344G>T (p.Trp2448Cys)
c.7044G>T (p.Trp2348Cys)
c.4308G>T (p.Trp1436Cys)
c.3201G>T (p.Trp1067Cys)
n.1830+5604C>A
c.7227G>T (p.Trp2409Cys)
c.2979G>T (p.Trp993Cys)
c.6207G>T (p.Trp2069Cys)
 ClinVar
8g.99776875T>ACA371875743VPS13Bc.7423T>A (p.Phe2475Ile)
n.7493T>A
c.*3105T>A (n.*3105T>A)
c.7348T>A (p.Phe2450Ile)
n.378-1807T>A
c.7420T>A (p.Phe2474Ile)
c.7345T>A (p.Phe2449Ile)
c.7045T>A (p.Phe2349Ile)
c.4309T>A (p.Phe1437Ile)
c.3202T>A (p.Phe1068Ile)
n.1830+5603A>T
c.7228T>A (p.Phe2410Ile)
c.2980T>A (p.Phe994Ile)
c.6208T>A (p.Phe2070Ile)
8g.99776875T>CCA371875745VPS13Bc.7423T>C (p.Phe2475Leu)
n.7493T>C
c.*3105T>C (n.*3105T>C)
c.7348T>C (p.Phe2450Leu)
n.378-1807T>C
c.7420T>C (p.Phe2474Leu)
c.7345T>C (p.Phe2449Leu)
c.7045T>C (p.Phe2349Leu)
c.4309T>C (p.Phe1437Leu)
c.3202T>C (p.Phe1068Leu)
n.1830+5603A>G
c.7228T>C (p.Phe2410Leu)
c.2980T>C (p.Phe994Leu)
c.6208T>C (p.Phe2070Leu)
 COSMIC COSMIC
8g.99776875T>GCA371875744VPS13Bc.7423T>G (p.Phe2475Val)
n.7493T>G
c.*3105T>G (n.*3105T>G)
c.7348T>G (p.Phe2450Val)
n.378-1807T>G
c.7420T>G (p.Phe2474Val)
c.7345T>G (p.Phe2449Val)
c.7045T>G (p.Phe2349Val)
c.4309T>G (p.Phe1437Val)
c.3202T>G (p.Phe1068Val)
n.1830+5603A>C
c.7228T>G (p.Phe2410Val)
c.2980T>G (p.Phe994Val)
c.6208T>G (p.Phe2070Val)
8g.99776876T>ACA371875746VPS13Bc.7424T>A (p.Phe2475Tyr)
n.7494T>A
c.*3106T>A (n.*3106T>A)
c.7349T>A (p.Phe2450Tyr)
n.378-1806T>A
c.7421T>A (p.Phe2474Tyr)
c.7346T>A (p.Phe2449Tyr)
c.7046T>A (p.Phe2349Tyr)
c.4310T>A (p.Phe1437Tyr)
c.3203T>A (p.Phe1068Tyr)
n.1830+5602A>T
c.7229T>A (p.Phe2410Tyr)
c.2981T>A (p.Phe994Tyr)
c.6209T>A (p.Phe2070Tyr)
8g.99776876T>CCA371875747VPS13Bc.7424T>C (p.Phe2475Ser)
n.7494T>C
c.*3106T>C (n.*3106T>C)
c.7349T>C (p.Phe2450Ser)
n.378-1806T>C
c.7421T>C (p.Phe2474Ser)
c.7346T>C (p.Phe2449Ser)
c.7046T>C (p.Phe2349Ser)
c.4310T>C (p.Phe1437Ser)
c.3203T>C (p.Phe1068Ser)
n.1830+5602A>G
c.7229T>C (p.Phe2410Ser)
c.2981T>C (p.Phe994Ser)
c.6209T>C (p.Phe2070Ser)
8g.99776876T>GCA371875748VPS13Bc.7424T>G (p.Phe2475Cys)
n.7494T>G
c.*3106T>G (n.*3106T>G)
c.7349T>G (p.Phe2450Cys)
n.378-1806T>G
c.7421T>G (p.Phe2474Cys)
c.7346T>G (p.Phe2449Cys)
c.7046T>G (p.Phe2349Cys)
c.4310T>G (p.Phe1437Cys)
c.3203T>G (p.Phe1068Cys)
n.1830+5602A>C
c.7229T>G (p.Phe2410Cys)
c.2981T>G (p.Phe994Cys)
c.6209T>G (p.Phe2070Cys)
8g.99776877T>ACA371875749VPS13Bc.7425T>A (p.Phe2475Leu)
n.7495T>A
c.*3107T>A (n.*3107T>A)
c.7350T>A (p.Phe2450Leu)
n.378-1805T>A
c.7422T>A (p.Phe2474Leu)
c.7347T>A (p.Phe2449Leu)
c.7047T>A (p.Phe2349Leu)
c.4311T>A (p.Phe1437Leu)
c.3204T>A (p.Phe1068Leu)
n.1830+5601A>T
c.7230T>A (p.Phe2410Leu)
c.2982T>A (p.Phe994Leu)
c.6210T>A (p.Phe2070Leu)
8g.99776877T>CCA462449200VPS13Bc.7425T>C (p.Phe2475=)
n.7495T>C
c.*3107T>C (n.*3107T>C)
c.7350T>C (p.Phe2450=)
n.378-1805T>C
c.7422T>C (p.Phe2474=)
c.7347T>C (p.Phe2449=)
c.7047T>C (p.Phe2349=)
c.4311T>C (p.Phe1437=)
c.3204T>C (p.Phe1068=)
n.1830+5601A>G
c.7230T>C (p.Phe2410=)
c.2982T>C (p.Phe994=)
c.6210T>C (p.Phe2070=)
8g.99776877T>GCA371875750VPS13Bc.7425T>G (p.Phe2475Leu)
n.7495T>G
c.*3107T>G (n.*3107T>G)
c.7350T>G (p.Phe2450Leu)
n.378-1805T>G
c.7422T>G (p.Phe2474Leu)
c.7347T>G (p.Phe2449Leu)
c.7047T>G (p.Phe2349Leu)
c.4311T>G (p.Phe1437Leu)
c.3204T>G (p.Phe1068Leu)
n.1830+5601A>C
c.7230T>G (p.Phe2410Leu)
c.2982T>G (p.Phe994Leu)
c.6210T>G (p.Phe2070Leu)
 gnomAD v4
8g.99776878G>ACA4824196VPS13Bc.7426G>A (p.Val2476Ile)
n.7496G>A
c.*3108G>A (n.*3108G>A)
c.7351G>A (p.Val2451Ile)
n.378-1804G>A
c.7423G>A (p.Val2475Ile)
c.7348G>A (p.Val2450Ile)
c.7048G>A (p.Val2350Ile)
c.4312G>A (p.Val1438Ile)
c.3205G>A (p.Val1069Ile)
n.1830+5600C>T
c.7231G>A (p.Val2411Ile)
c.2983G>A (p.Val995Ile)
c.6211G>A (p.Val2071Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776878G>CCA371875751VPS13Bc.7426G>C (p.Val2476Leu)
n.7496G>C
c.*3108G>C (n.*3108G>C)
c.7351G>C (p.Val2451Leu)
n.378-1804G>C
c.7423G>C (p.Val2475Leu)
c.7348G>C (p.Val2450Leu)
c.7048G>C (p.Val2350Leu)
c.4312G>C (p.Val1438Leu)
c.3205G>C (p.Val1069Leu)
n.1830+5600C>G
c.7231G>C (p.Val2411Leu)
c.2983G>C (p.Val995Leu)
c.6211G>C (p.Val2071Leu)
8g.99776878G>TCA371875752VPS13Bc.7426G>T (p.Val2476Phe)
n.7496G>T
c.*3108G>T (n.*3108G>T)
c.7351G>T (p.Val2451Phe)
n.378-1804G>T
c.7423G>T (p.Val2475Phe)
c.7348G>T (p.Val2450Phe)
c.7048G>T (p.Val2350Phe)
c.4312G>T (p.Val1438Phe)
c.3205G>T (p.Val1069Phe)
n.1830+5600C>A
c.7231G>T (p.Val2411Phe)
c.2983G>T (p.Val995Phe)
c.6211G>T (p.Val2071Phe)
8g.99776879T>ACA371875753VPS13Bc.7427T>A (p.Val2476Asp)
n.7497T>A
c.*3109T>A (n.*3109T>A)
c.7352T>A (p.Val2451Asp)
n.378-1803T>A
c.7424T>A (p.Val2475Asp)
c.7349T>A (p.Val2450Asp)
c.7049T>A (p.Val2350Asp)
c.4313T>A (p.Val1438Asp)
c.3206T>A (p.Val1069Asp)
n.1830+5599A>T
c.7232T>A (p.Val2411Asp)
c.2984T>A (p.Val995Asp)
c.6212T>A (p.Val2071Asp)
8g.99776879T>CCA371875754VPS13Bc.7427T>C (p.Val2476Ala)
n.7497T>C
c.*3109T>C (n.*3109T>C)
c.7352T>C (p.Val2451Ala)
n.378-1803T>C
c.7424T>C (p.Val2475Ala)
c.7349T>C (p.Val2450Ala)
c.7049T>C (p.Val2350Ala)
c.4313T>C (p.Val1438Ala)
c.3206T>C (p.Val1069Ala)
n.1830+5599A>G
c.7232T>C (p.Val2411Ala)
c.2984T>C (p.Val995Ala)
c.6212T>C (p.Val2071Ala)
8g.99776879T>GCA371875755VPS13Bc.7427T>G (p.Val2476Gly)
n.7497T>G
c.*3109T>G (n.*3109T>G)
c.7352T>G (p.Val2451Gly)
n.378-1803T>G
c.7424T>G (p.Val2475Gly)
c.7349T>G (p.Val2450Gly)
c.7049T>G (p.Val2350Gly)
c.4313T>G (p.Val1438Gly)
c.3206T>G (p.Val1069Gly)
n.1830+5599A>C
c.7232T>G (p.Val2411Gly)
c.2984T>G (p.Val995Gly)
c.6212T>G (p.Val2071Gly)
8g.99776880C>ACA462449201VPS13Bc.7428C>A (p.Val2476=)
n.7498C>A
c.*3110C>A (n.*3110C>A)
c.7353C>A (p.Val2451=)
n.378-1802C>A
c.7425C>A (p.Val2475=)
c.7350C>A (p.Val2450=)
c.7050C>A (p.Val2350=)
c.4314C>A (p.Val1438=)
c.3207C>A (p.Val1069=)
n.1830+5598G>T
c.7233C>A (p.Val2411=)
c.2985C>A (p.Val995=)
c.6213C>A (p.Val2071=)
 dbSNP gnomAD v3 gnomAD v4
8g.99776880C>GCA462449202VPS13Bc.7428C>G (p.Val2476=)
n.7498C>G
c.*3110C>G (n.*3110C>G)
c.7353C>G (p.Val2451=)
n.378-1802C>G
c.7425C>G (p.Val2475=)
c.7350C>G (p.Val2450=)
c.7050C>G (p.Val2350=)
c.4314C>G (p.Val1438=)
c.3207C>G (p.Val1069=)
n.1830+5598G>C
c.7233C>G (p.Val2411=)
c.2985C>G (p.Val995=)
c.6213C>G (p.Val2071=)
8g.99776880C>TCA462449203VPS13Bc.7428C>T (p.Val2476=)
n.7498C>T
c.*3110C>T (n.*3110C>T)
c.7353C>T (p.Val2451=)
n.378-1802C>T
c.7425C>T (p.Val2475=)
c.7350C>T (p.Val2450=)
c.7050C>T (p.Val2350=)
c.4314C>T (p.Val1438=)
c.3207C>T (p.Val1069=)
n.1830+5598G>A
c.7233C>T (p.Val2411=)
c.2985C>T (p.Val995=)
c.6213C>T (p.Val2071=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.99776881C>ACA371875756VPS13Bc.7429C>A (p.Pro2477Thr)
n.7499C>A
c.*3111C>A (n.*3111C>A)
c.7354C>A (p.Pro2452Thr)
n.378-1801C>A
c.7426C>A (p.Pro2476Thr)
c.7351C>A (p.Pro2451Thr)
c.7051C>A (p.Pro2351Thr)
c.4315C>A (p.Pro1439Thr)
c.3208C>A (p.Pro1070Thr)
n.1830+5597G>T
c.7234C>A (p.Pro2412Thr)
c.2986C>A (p.Pro996Thr)
c.6214C>A (p.Pro2072Thr)
8g.99776881C>GCA371875758VPS13Bc.7429C>G (p.Pro2477Ala)
n.7499C>G
c.*3111C>G (n.*3111C>G)
c.7354C>G (p.Pro2452Ala)
n.378-1801C>G
c.7426C>G (p.Pro2476Ala)
c.7351C>G (p.Pro2451Ala)
c.7051C>G (p.Pro2351Ala)
c.4315C>G (p.Pro1439Ala)
c.3208C>G (p.Pro1070Ala)
n.1830+5597G>C
c.7234C>G (p.Pro2412Ala)
c.2986C>G (p.Pro996Ala)
c.6214C>G (p.Pro2072Ala)
8g.99776881C>TCA371875757VPS13Bc.7429C>T (p.Pro2477Ser)
n.7499C>T
c.*3111C>T (n.*3111C>T)
c.7354C>T (p.Pro2452Ser)
n.378-1801C>T
c.7426C>T (p.Pro2476Ser)
c.7351C>T (p.Pro2451Ser)
c.7051C>T (p.Pro2351Ser)
c.4315C>T (p.Pro1439Ser)
c.3208C>T (p.Pro1070Ser)
n.1830+5597G>A
c.7234C>T (p.Pro2412Ser)
c.2986C>T (p.Pro996Ser)
c.6214C>T (p.Pro2072Ser)
8g.99776882C>ACA371875759VPS13Bc.7430C>A (p.Pro2477Gln)
n.7500C>A
c.*3112C>A (n.*3112C>A)
c.7355C>A (p.Pro2452Gln)
n.378-1800C>A
c.7427C>A (p.Pro2476Gln)
c.7352C>A (p.Pro2451Gln)
c.7052C>A (p.Pro2351Gln)
c.4316C>A (p.Pro1439Gln)
c.3209C>A (p.Pro1070Gln)
n.1830+5596G>T
c.7235C>A (p.Pro2412Gln)
c.2987C>A (p.Pro996Gln)
c.6215C>A (p.Pro2072Gln)
8g.99776882C>GCA371875760VPS13Bc.7430C>G (p.Pro2477Arg)
n.7500C>G
c.*3112C>G (n.*3112C>G)
c.7355C>G (p.Pro2452Arg)
n.378-1800C>G
c.7427C>G (p.Pro2476Arg)
c.7352C>G (p.Pro2451Arg)
c.7052C>G (p.Pro2351Arg)
c.4316C>G (p.Pro1439Arg)
c.3209C>G (p.Pro1070Arg)
n.1830+5596G>C
c.7235C>G (p.Pro2412Arg)
c.2987C>G (p.Pro996Arg)
c.6215C>G (p.Pro2072Arg)
8g.99776882C>TCA371875761VPS13Bc.7430C>T (p.Pro2477Leu)
n.7500C>T
c.*3112C>T (n.*3112C>T)
c.7355C>T (p.Pro2452Leu)
n.378-1800C>T
c.7427C>T (p.Pro2476Leu)
c.7352C>T (p.Pro2451Leu)
c.7052C>T (p.Pro2351Leu)
c.4316C>T (p.Pro1439Leu)
c.3209C>T (p.Pro1070Leu)
n.1830+5596G>A
c.7235C>T (p.Pro2412Leu)
c.2987C>T (p.Pro996Leu)
c.6215C>T (p.Pro2072Leu)
 dbSNP gnomAD v4
8g.99776883A>CCA462449206VPS13Bc.7431A>C (p.Pro2477=)
n.7501A>C
c.*3113A>C (n.*3113A>C)
c.7356A>C (p.Pro2452=)
n.378-1799A>C
c.7428A>C (p.Pro2476=)
c.7353A>C (p.Pro2451=)
c.7053A>C (p.Pro2351=)
c.4317A>C (p.Pro1439=)
c.3210A>C (p.Pro1070=)
n.1830+5595T>G
c.7236A>C (p.Pro2412=)
c.2988A>C (p.Pro996=)
c.6216A>C (p.Pro2072=)
8g.99776883A>GCA462449205VPS13Bc.7431A>G (p.Pro2477=)
n.7501A>G
c.*3113A>G (n.*3113A>G)
c.7356A>G (p.Pro2452=)
n.378-1799A>G
c.7428A>G (p.Pro2476=)
c.7353A>G (p.Pro2451=)
c.7053A>G (p.Pro2351=)
c.4317A>G (p.Pro1439=)
c.3210A>G (p.Pro1070=)
n.1830+5595T>C
c.7236A>G (p.Pro2412=)
c.2988A>G (p.Pro996=)
c.6216A>G (p.Pro2072=)
8g.99776883A>TCA462449204VPS13Bc.7431A>T (p.Pro2477=)
n.7501A>T
c.*3113A>T (n.*3113A>T)
c.7356A>T (p.Pro2452=)
n.378-1799A>T
c.7428A>T (p.Pro2476=)
c.7353A>T (p.Pro2451=)
c.7053A>T (p.Pro2351=)
c.4317A>T (p.Pro1439=)
c.3210A>T (p.Pro1070=)
n.1830+5595T>A
c.7236A>T (p.Pro2412=)
c.2988A>T (p.Pro996=)
c.6216A>T (p.Pro2072=)
8g.99776884T>ACA371875762VPS13Bc.7432T>A (p.Ser2478Thr)
n.7502T>A
c.*3114T>A (n.*3114T>A)
c.7357T>A (p.Ser2453Thr)
n.378-1798T>A
c.7429T>A (p.Ser2477Thr)
c.7354T>A (p.Ser2452Thr)
c.7054T>A (p.Ser2352Thr)
c.4318T>A (p.Ser1440Thr)
c.3211T>A (p.Ser1071Thr)
n.1830+5594A>T
c.7237T>A (p.Ser2413Thr)
c.2989T>A (p.Ser997Thr)
c.6217T>A (p.Ser2073Thr)
8g.99776884T>CCA371875763VPS13Bc.7432T>C (p.Ser2478Pro)
n.7502T>C
c.*3114T>C (n.*3114T>C)
c.7357T>C (p.Ser2453Pro)
n.378-1798T>C
c.7429T>C (p.Ser2477Pro)
c.7354T>C (p.Ser2452Pro)
c.7054T>C (p.Ser2352Pro)
c.4318T>C (p.Ser1440Pro)
c.3211T>C (p.Ser1071Pro)
n.1830+5594A>G
c.7237T>C (p.Ser2413Pro)
c.2989T>C (p.Ser997Pro)
c.6217T>C (p.Ser2073Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99776884T>GCA371875764VPS13Bc.7432T>G (p.Ser2478Ala)
n.7502T>G
c.*3114T>G (n.*3114T>G)
c.7357T>G (p.Ser2453Ala)
n.378-1798T>G
c.7429T>G (p.Ser2477Ala)
c.7354T>G (p.Ser2452Ala)
c.7054T>G (p.Ser2352Ala)
c.4318T>G (p.Ser1440Ala)
c.3211T>G (p.Ser1071Ala)
n.1830+5594A>C
c.7237T>G (p.Ser2413Ala)
c.2989T>G (p.Ser997Ala)
c.6217T>G (p.Ser2073Ala)
8g.99776885C>ACA371875765VPS13Bc.7433C>A (p.Ser2478Tyr)
n.7503C>A
c.*3115C>A (n.*3115C>A)
c.7358C>A (p.Ser2453Tyr)
n.378-1797C>A
c.7430C>A (p.Ser2477Tyr)
c.7355C>A (p.Ser2452Tyr)
c.7055C>A (p.Ser2352Tyr)
c.4319C>A (p.Ser1440Tyr)
c.3212C>A (p.Ser1071Tyr)
n.1830+5593G>T
c.7238C>A (p.Ser2413Tyr)
c.2990C>A (p.Ser997Tyr)
c.6218C>A (p.Ser2073Tyr)
 gnomAD v4
8g.99776885C>GCA371875766VPS13Bc.7433C>G (p.Ser2478Cys)
n.7503C>G
c.*3115C>G (n.*3115C>G)
c.7358C>G (p.Ser2453Cys)
n.378-1797C>G
c.7430C>G (p.Ser2477Cys)
c.7355C>G (p.Ser2452Cys)
c.7055C>G (p.Ser2352Cys)
c.4319C>G (p.Ser1440Cys)
c.3212C>G (p.Ser1071Cys)
n.1830+5593G>C
c.7238C>G (p.Ser2413Cys)
c.2990C>G (p.Ser997Cys)
c.6218C>G (p.Ser2073Cys)
8g.99776885C>TCA371875767VPS13Bc.7433C>T (p.Ser2478Phe)
n.7503C>T
c.*3115C>T (n.*3115C>T)
c.7358C>T (p.Ser2453Phe)
n.378-1797C>T
c.7430C>T (p.Ser2477Phe)
c.7355C>T (p.Ser2452Phe)
c.7055C>T (p.Ser2352Phe)
c.4319C>T (p.Ser1440Phe)
c.3212C>T (p.Ser1071Phe)
n.1830+5593G>A
c.7238C>T (p.Ser2413Phe)
c.2990C>T (p.Ser997Phe)
c.6218C>T (p.Ser2073Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.99776886C>ACA462449207VPS13Bc.7434C>A (p.Ser2478=)
n.7504C>A
c.*3116C>A (n.*3116C>A)
c.7359C>A (p.Ser2453=)
n.378-1796C>A
c.7431C>A (p.Ser2477=)
c.7356C>A (p.Ser2452=)
c.7056C>A (p.Ser2352=)
c.4320C>A (p.Ser1440=)
c.3213C>A (p.Ser1071=)
n.1830+5592G>T
c.7239C>A (p.Ser2413=)
c.2991C>A (p.Ser997=)
c.6219C>A (p.Ser2073=)
8g.99776886C>GCA462449208VPS13Bc.7434C>G (p.Ser2478=)
n.7504C>G
c.*3116C>G (n.*3116C>G)
c.7359C>G (p.Ser2453=)
n.378-1796C>G
c.7431C>G (p.Ser2477=)
c.7356C>G (p.Ser2452=)
c.7056C>G (p.Ser2352=)
c.4320C>G (p.Ser1440=)
c.3213C>G (p.Ser1071=)
n.1830+5592G>C
c.7239C>G (p.Ser2413=)
c.2991C>G (p.Ser997=)
c.6219C>G (p.Ser2073=)
8g.99776886C>TCA462449209VPS13Bc.7434C>T (p.Ser2478=)
n.7504C>T
c.*3116C>T (n.*3116C>T)
c.7359C>T (p.Ser2453=)
n.378-1796C>T
c.7431C>T (p.Ser2477=)
c.7356C>T (p.Ser2452=)
c.7056C>T (p.Ser2352=)
c.4320C>T (p.Ser1440=)
c.3213C>T (p.Ser1071=)
n.1830+5592G>A
c.7239C>T (p.Ser2413=)
c.2991C>T (p.Ser997=)
c.6219C>T (p.Ser2073=)
8g.99776887C>ACA371875769VPS13Bc.7435C>A (p.Leu2479Ile)
n.7505C>A
c.*3117C>A (n.*3117C>A)
c.7360C>A (p.Leu2454Ile)
n.378-1795C>A
c.7432C>A (p.Leu2478Ile)
c.7357C>A (p.Leu2453Ile)
c.7057C>A (p.Leu2353Ile)
c.4321C>A (p.Leu1441Ile)
c.3214C>A (p.Leu1072Ile)
n.1830+5591G>T
c.7240C>A (p.Leu2414Ile)
c.2992C>A (p.Leu998Ile)
c.6220C>A (p.Leu2074Ile)
8g.99776887C>GCA371875770VPS13Bc.7435C>G (p.Leu2479Val)
n.7505C>G
c.*3117C>G (n.*3117C>G)
c.7360C>G (p.Leu2454Val)
n.378-1795C>G
c.7432C>G (p.Leu2478Val)
c.7357C>G (p.Leu2453Val)
c.7057C>G (p.Leu2353Val)
c.4321C>G (p.Leu1441Val)
c.3214C>G (p.Leu1072Val)
n.1830+5591G>C
c.7240C>G (p.Leu2414Val)
c.2992C>G (p.Leu998Val)
c.6220C>G (p.Leu2074Val)
8g.99776887C>TCA371875768VPS13Bc.7435C>T (p.Leu2479Phe)
n.7505C>T
c.*3117C>T (n.*3117C>T)
c.7360C>T (p.Leu2454Phe)
n.378-1795C>T
c.7432C>T (p.Leu2478Phe)
c.7357C>T (p.Leu2453Phe)
c.7057C>T (p.Leu2353Phe)
c.4321C>T (p.Leu1441Phe)
c.3214C>T (p.Leu1072Phe)
n.1830+5591G>A
c.7240C>T (p.Leu2414Phe)
c.2992C>T (p.Leu998Phe)
c.6220C>T (p.Leu2074Phe)
8g.99776888T>ACA371875771VPS13Bc.7436T>A (p.Leu2479His)
n.7506T>A
c.*3118T>A (n.*3118T>A)
c.7361T>A (p.Leu2454His)
n.378-1794T>A
c.7433T>A (p.Leu2478His)
c.7358T>A (p.Leu2453His)
c.7058T>A (p.Leu2353His)
c.4322T>A (p.Leu1441His)
c.3215T>A (p.Leu1072His)
n.1830+5590A>T
c.7241T>A (p.Leu2414His)
c.2993T>A (p.Leu998His)
c.6221T>A (p.Leu2074His)
8g.99776888T>CCA371875772VPS13Bc.7436T>C (p.Leu2479Pro)
n.7506T>C
c.*3118T>C (n.*3118T>C)
c.7361T>C (p.Leu2454Pro)
n.378-1794T>C
c.7433T>C (p.Leu2478Pro)
c.7358T>C (p.Leu2453Pro)
c.7058T>C (p.Leu2353Pro)
c.4322T>C (p.Leu1441Pro)
c.3215T>C (p.Leu1072Pro)
n.1830+5590A>G
c.7241T>C (p.Leu2414Pro)
c.2993T>C (p.Leu998Pro)
c.6221T>C (p.Leu2074Pro)
8g.99776888T>GCA371875773VPS13Bc.7436T>G (p.Leu2479Arg)
n.7506T>G
c.*3118T>G (n.*3118T>G)
c.7361T>G (p.Leu2454Arg)
n.378-1794T>G
c.7433T>G (p.Leu2478Arg)
c.7358T>G (p.Leu2453Arg)
c.7058T>G (p.Leu2353Arg)
c.4322T>G (p.Leu1441Arg)
c.3215T>G (p.Leu1072Arg)
n.1830+5590A>C
c.7241T>G (p.Leu2414Arg)
c.2993T>G (p.Leu998Arg)
c.6221T>G (p.Leu2074Arg)
8g.99776889T>ACA462449210VPS13Bc.7437T>A (p.Leu2479=)
n.7507T>A
c.*3119T>A (n.*3119T>A)
c.7362T>A (p.Leu2454=)
n.378-1793T>A
c.7434T>A (p.Leu2478=)
c.7359T>A (p.Leu2453=)
c.7059T>A (p.Leu2353=)
c.4323T>A (p.Leu1441=)
c.3216T>A (p.Leu1072=)
n.1830+5589A>T
c.7242T>A (p.Leu2414=)
c.2994T>A (p.Leu998=)
c.6222T>A (p.Leu2074=)
8g.99776889T>CCA462449212VPS13Bc.7437T>C (p.Leu2479=)
n.7507T>C
c.*3119T>C (n.*3119T>C)
c.7362T>C (p.Leu2454=)
n.378-1793T>C
c.7434T>C (p.Leu2478=)
c.7359T>C (p.Leu2453=)
c.7059T>C (p.Leu2353=)
c.4323T>C (p.Leu1441=)
c.3216T>C (p.Leu1072=)
n.1830+5589A>G
c.7242T>C (p.Leu2414=)
c.2994T>C (p.Leu998=)
c.6222T>C (p.Leu2074=)
 ClinVar dbSNP
8g.99776889T>GCA462449211VPS13Bc.7437T>G (p.Leu2479=)
n.7507T>G
c.*3119T>G (n.*3119T>G)
c.7362T>G (p.Leu2454=)
n.378-1793T>G
c.7434T>G (p.Leu2478=)
c.7359T>G (p.Leu2453=)
c.7059T>G (p.Leu2353=)
c.4323T>G (p.Leu1441=)
c.3216T>G (p.Leu1072=)
n.1830+5589A>C
c.7242T>G (p.Leu2414=)
c.2994T>G (p.Leu998=)
c.6222T>G (p.Leu2074=)
 ClinVar
8g.99776889_99776890insAGCA2556541009VPS13Bc.7437_7438insAG (p.Cys2480SerfsTer21)
n.7507_7508insAG
c.*3119_*3120insAG (n.*3119_*3120insAG)
c.7362_7363insAG (p.Cys2455SerfsTer21)
n.378-1793_378-1792insAG
c.7434_7435insAG (p.Cys2479SerfsTer21)
c.7359_7360insAG (p.Cys2454SerfsTer21)
c.7059_7060insAG (p.Cys2354SerfsTer21)
c.4323_4324insAG (p.Cys1442SerfsTer21)
c.3216_3217insAG (p.Cys1073SerfsTer21)
n.1830+5588_1830+5589insCT
c.7242_7243insAG (p.Cys2415SerfsTer21)
c.2994_2995insAG (p.Cys999SerfsTer21)
c.6222_6223insAG (p.Cys2075SerfsTer21)
8g.99776890T>ACA371875774VPS13Bc.7438T>A (p.Cys2480Ser)
n.7508T>A
c.*3120T>A (n.*3120T>A)
c.7363T>A (p.Cys2455Ser)
n.378-1792T>A
c.7435T>A (p.Cys2479Ser)
c.7360T>A (p.Cys2454Ser)
c.7060T>A (p.Cys2354Ser)
c.4324T>A (p.Cys1442Ser)
c.3217T>A (p.Cys1073Ser)
n.1830+5588A>T
c.7243T>A (p.Cys2415Ser)
c.2995T>A (p.Cys999Ser)
c.6223T>A (p.Cys2075Ser)
8g.99776890T>CCA371875775VPS13Bc.7438T>C (p.Cys2480Arg)
n.7508T>C
c.*3120T>C (n.*3120T>C)
c.7363T>C (p.Cys2455Arg)
n.378-1792T>C
c.7435T>C (p.Cys2479Arg)
c.7360T>C (p.Cys2454Arg)
c.7060T>C (p.Cys2354Arg)
c.4324T>C (p.Cys1442Arg)
c.3217T>C (p.Cys1073Arg)
n.1830+5588A>G
c.7243T>C (p.Cys2415Arg)
c.2995T>C (p.Cys999Arg)
c.6223T>C (p.Cys2075Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.99776890T>GCA371875776VPS13Bc.7438T>G (p.Cys2480Gly)
n.7508T>G
c.*3120T>G (n.*3120T>G)
c.7363T>G (p.Cys2455Gly)
n.378-1792T>G
c.7435T>G (p.Cys2479Gly)
c.7360T>G (p.Cys2454Gly)
c.7060T>G (p.Cys2354Gly)
c.4324T>G (p.Cys1442Gly)
c.3217T>G (p.Cys1073Gly)
n.1830+5588A>C
c.7243T>G (p.Cys2415Gly)
c.2995T>G (p.Cys999Gly)
c.6223T>G (p.Cys2075Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.99776891G>ACA371875777VPS13Bc.7439G>A (p.Cys2480Tyr)
n.7509G>A
c.*3121G>A (n.*3121G>A)
c.7364G>A (p.Cys2455Tyr)
n.378-1791G>A
c.7436G>A (p.Cys2479Tyr)
c.7361G>A (p.Cys2454Tyr)
c.7061G>A (p.Cys2354Tyr)
c.4325G>A (p.Cys1442Tyr)
c.3218G>A (p.Cys1073Tyr)
n.1830+5587C>T
c.7244G>A (p.Cys2415Tyr)
c.2996G>A (p.Cys999Tyr)
c.6224G>A (p.Cys2075Tyr)
8g.99776891G>CCA4824197VPS13Bc.7439G>C (p.Cys2480Ser)
n.7509G>C
c.*3121G>C (n.*3121G>C)
c.7364G>C (p.Cys2455Ser)
n.378-1791G>C
c.7436G>C (p.Cys2479Ser)
c.7361G>C (p.Cys2454Ser)
c.7061G>C (p.Cys2354Ser)
c.4325G>C (p.Cys1442Ser)
c.3218G>C (p.Cys1073Ser)
n.1830+5587C>G
c.7244G>C (p.Cys2415Ser)
c.2996G>C (p.Cys999Ser)
c.6224G>C (p.Cys2075Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776891G>TCA371875778VPS13Bc.7439G>T (p.Cys2480Phe)
n.7509G>T
c.*3121G>T (n.*3121G>T)
c.7364G>T (p.Cys2455Phe)
n.378-1791G>T
c.7436G>T (p.Cys2479Phe)
c.7361G>T (p.Cys2454Phe)
c.7061G>T (p.Cys2354Phe)
c.4325G>T (p.Cys1442Phe)
c.3218G>T (p.Cys1073Phe)
n.1830+5587C>A
c.7244G>T (p.Cys2415Phe)
c.2996G>T (p.Cys999Phe)
c.6224G>T (p.Cys2075Phe)
8g.99776892delCA1139660680VPS13Bc.7440del (p.Cys2480TrpfsTer20)
n.7510del
c.*3122del (n.*3122del)
c.7365del (p.Cys2455TrpfsTer20)
n.378-1790del
c.7437del (p.Cys2479TrpfsTer20)
c.7362del (p.Cys2454TrpfsTer20)
c.7062del (p.Cys2354TrpfsTer20)
c.4326del (p.Cys1442TrpfsTer20)
c.3219del (p.Cys1073TrpfsTer20)
n.1830+5586del
c.7245del (p.Cys2415TrpfsTer20)
c.2997del (p.Cys999TrpfsTer20)
c.6225del (p.Cys2075TrpfsTer20)
 ClinVar dbSNP
8g.99776892C>ACA371875779VPS13Bc.7440C>A (p.Cys2480Ter)
n.7510C>A
c.*3122C>A (n.*3122C>A)
c.7365C>A (p.Cys2455Ter)
n.378-1790C>A
c.7437C>A (p.Cys2479Ter)
c.7362C>A (p.Cys2454Ter)
c.7062C>A (p.Cys2354Ter)
c.4326C>A (p.Cys1442Ter)
c.3219C>A (p.Cys1073Ter)
n.1830+5586G>T
c.7245C>A (p.Cys2415Ter)
c.2997C>A (p.Cys999Ter)
c.6225C>A (p.Cys2075Ter)
8g.99776892C>GCA371875780VPS13Bc.7440C>G (p.Cys2480Trp)
n.7510C>G
c.*3122C>G (n.*3122C>G)
c.7365C>G (p.Cys2455Trp)
n.378-1790C>G
c.7437C>G (p.Cys2479Trp)
c.7362C>G (p.Cys2454Trp)
c.7062C>G (p.Cys2354Trp)
c.4326C>G (p.Cys1442Trp)
c.3219C>G (p.Cys1073Trp)
n.1830+5586G>C
c.7245C>G (p.Cys2415Trp)
c.2997C>G (p.Cys999Trp)
c.6225C>G (p.Cys2075Trp)
8g.99776892C>TCA4824198VPS13Bc.7440C>T (p.Cys2480=)
n.7510C>T
c.*3122C>T (n.*3122C>T)
c.7365C>T (p.Cys2455=)
n.378-1790C>T
c.7437C>T (p.Cys2479=)
c.7362C>T (p.Cys2454=)
c.7062C>T (p.Cys2354=)
c.4326C>T (p.Cys1442=)
c.3219C>T (p.Cys1073=)
n.1830+5586G>A
c.7245C>T (p.Cys2415=)
c.2997C>T (p.Cys999=)
c.6225C>T (p.Cys2075=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.99776893G>ACA223484VPS13Bc.7441G>A (p.Val2481Ile)
n.7511G>A
c.*3123G>A (n.*3123G>A)
c.7366G>A (p.Val2456Ile)
n.378-1789G>A
c.7438G>A (p.Val2480Ile)
c.7363G>A (p.Val2455Ile)
c.7063G>A (p.Val2355Ile)
c.4327G>A (p.Val1443Ile)
c.3220G>A (p.Val1074Ile)
n.1830+5585C>T
c.7246G>A (p.Val2416Ile)
c.2998G>A (p.Val1000Ile)
c.6226G>A (p.Val2076Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776893G>CCA371875781VPS13Bc.7441G>C (p.Val2481Leu)
n.7511G>C
c.*3123G>C (n.*3123G>C)
c.7366G>C (p.Val2456Leu)
n.378-1789G>C
c.7438G>C (p.Val2480Leu)
c.7363G>C (p.Val2455Leu)
c.7063G>C (p.Val2355Leu)
c.4327G>C (p.Val1443Leu)
c.3220G>C (p.Val1074Leu)
n.1830+5585C>G
c.7246G>C (p.Val2416Leu)
c.2998G>C (p.Val1000Leu)
c.6226G>C (p.Val2076Leu)
8g.99776893G>TCA371875782VPS13Bc.7441G>T (p.Val2481Phe)
n.7511G>T
c.*3123G>T (n.*3123G>T)
c.7366G>T (p.Val2456Phe)
n.378-1789G>T
c.7438G>T (p.Val2480Phe)
c.7363G>T (p.Val2455Phe)
c.7063G>T (p.Val2355Phe)
c.4327G>T (p.Val1443Phe)
c.3220G>T (p.Val1074Phe)
n.1830+5585C>A
c.7246G>T (p.Val2416Phe)
c.2998G>T (p.Val1000Phe)
c.6226G>T (p.Val2076Phe)
8g.99776894T>ACA371875783VPS13Bc.7442T>A (p.Val2481Asp)
n.7512T>A
c.*3124T>A (n.*3124T>A)
c.7367T>A (p.Val2456Asp)
n.378-1788T>A
c.7439T>A (p.Val2480Asp)
c.7364T>A (p.Val2455Asp)
c.7064T>A (p.Val2355Asp)
c.4328T>A (p.Val1443Asp)
c.3221T>A (p.Val1074Asp)
n.1830+5584A>T
c.7247T>A (p.Val2416Asp)
c.2999T>A (p.Val1000Asp)
c.6227T>A (p.Val2076Asp)
8g.99776894T>CCA371875784VPS13Bc.7442T>C (p.Val2481Ala)
n.7512T>C
c.*3124T>C (n.*3124T>C)
c.7367T>C (p.Val2456Ala)
n.378-1788T>C
c.7439T>C (p.Val2480Ala)
c.7364T>C (p.Val2455Ala)
c.7064T>C (p.Val2355Ala)
c.4328T>C (p.Val1443Ala)
c.3221T>C (p.Val1074Ala)
n.1830+5584A>G
c.7247T>C (p.Val2416Ala)
c.2999T>C (p.Val1000Ala)
c.6227T>C (p.Val2076Ala)
 ClinVar dbSNP
8g.99776894T>GCA371875785VPS13Bc.7442T>G (p.Val2481Gly)
n.7512T>G
c.*3124T>G (n.*3124T>G)
c.7367T>G (p.Val2456Gly)
n.378-1788T>G
c.7439T>G (p.Val2480Gly)
c.7364T>G (p.Val2455Gly)
c.7064T>G (p.Val2355Gly)
c.4328T>G (p.Val1443Gly)
c.3221T>G (p.Val1074Gly)
n.1830+5584A>C
c.7247T>G (p.Val2416Gly)
c.2999T>G (p.Val1000Gly)
c.6227T>G (p.Val2076Gly)
8g.99776896delCA2688068077VPS13Bc.7444del (p.Ser2482LeufsTer18)
n.7514del
c.*3126del (n.*3126del)
c.7369del (p.Ser2457LeufsTer18)
n.378-1786del
c.7441del (p.Ser2481LeufsTer18)
c.7366del (p.Ser2456LeufsTer18)
c.7066del (p.Ser2356LeufsTer18)
c.4330del (p.Ser1444LeufsTer18)
c.3223del (p.Ser1075LeufsTer18)
n.1830+5584del
c.7249del (p.Ser2417LeufsTer18)
c.3001del (p.Ser1001LeufsTer18)
c.6229del (p.Ser2077LeufsTer18)
 gnomAD v4
8g.99776898_99776901delCA857581703VPS13Bc.7446_7449del (p.Phe2483SerfsTer16)
n.7516_7519del
c.*3128_*3131del (n.*3128_*3131del)
c.7371_7374del (p.Phe2458SerfsTer16)
n.378-1784_378-1781del
c.7443_7446del (p.Phe2482SerfsTer16)
c.7368_7371del (p.Phe2457SerfsTer16)
c.7068_7071del (p.Phe2357SerfsTer16)
c.4332_4335del (p.Phe1445SerfsTer16)
c.3225_3228del (p.Phe1076SerfsTer16)
n.1830+5581_1830+5584del
c.7251_7254del (p.Phe2418SerfsTer16)
c.3003_3006del (p.Phe1002SerfsTer16)
c.6231_6234del (p.Phe2078SerfsTer16)
 dbSNP
8g.99776895T>ACA462449213VPS13Bc.7443T>A (p.Val2481=)
n.7513T>A
c.*3125T>A (n.*3125T>A)
c.7368T>A (p.Val2456=)
n.378-1787T>A
c.7440T>A (p.Val2480=)
c.7365T>A (p.Val2455=)
c.7065T>A (p.Val2355=)
c.4329T>A (p.Val1443=)
c.3222T>A (p.Val1074=)
n.1830+5583A>T
c.7248T>A (p.Val2416=)
c.3000T>A (p.Val1000=)
c.6228T>A (p.Val2076=)
8g.99776895T>CCA462449215VPS13Bc.7443T>C (p.Val2481=)
n.7513T>C
c.*3125T>C (n.*3125T>C)
c.7368T>C (p.Val2456=)
n.378-1787T>C
c.7440T>C (p.Val2480=)
c.7365T>C (p.Val2455=)
c.7065T>C (p.Val2355=)
c.4329T>C (p.Val1443=)
c.3222T>C (p.Val1074=)
n.1830+5583A>G
c.7248T>C (p.Val2416=)
c.3000T>C (p.Val1000=)
c.6228T>C (p.Val2076=)
8g.99776895T>GCA462449214VPS13Bc.7443T>G (p.Val2481=)
n.7513T>G
c.*3125T>G (n.*3125T>G)
c.7368T>G (p.Val2456=)
n.378-1787T>G
c.7440T>G (p.Val2480=)
c.7365T>G (p.Val2455=)
c.7065T>G (p.Val2355=)
c.4329T>G (p.Val1443=)
c.3222T>G (p.Val1074=)
n.1830+5583A>C
c.7248T>G (p.Val2416=)
c.3000T>G (p.Val1000=)
c.6228T>G (p.Val2076=)
8g.99776896T>ACA371875786VPS13Bc.7444T>A (p.Ser2482Thr)
n.7514T>A
c.*3126T>A (n.*3126T>A)
c.7369T>A (p.Ser2457Thr)
n.378-1786T>A
c.7441T>A (p.Ser2481Thr)
c.7366T>A (p.Ser2456Thr)
c.7066T>A (p.Ser2356Thr)
c.4330T>A (p.Ser1444Thr)
c.3223T>A (p.Ser1075Thr)
n.1830+5582A>T
c.7249T>A (p.Ser2417Thr)
c.3001T>A (p.Ser1001Thr)
c.6229T>A (p.Ser2077Thr)
8g.99776896T>CCA371875787VPS13Bc.7444T>C (p.Ser2482Pro)
n.7514T>C
c.*3126T>C (n.*3126T>C)
c.7369T>C (p.Ser2457Pro)
n.378-1786T>C
c.7441T>C (p.Ser2481Pro)
c.7366T>C (p.Ser2456Pro)
c.7066T>C (p.Ser2356Pro)
c.4330T>C (p.Ser1444Pro)
c.3223T>C (p.Ser1075Pro)
n.1830+5582A>G
c.7249T>C (p.Ser2417Pro)
c.3001T>C (p.Ser1001Pro)
c.6229T>C (p.Ser2077Pro)
8g.99776896T>GCA371875788VPS13Bc.7444T>G (p.Ser2482Ala)
n.7514T>G
c.*3126T>G (n.*3126T>G)
c.7369T>G (p.Ser2457Ala)
n.378-1786T>G
c.7441T>G (p.Ser2481Ala)
c.7366T>G (p.Ser2456Ala)
c.7066T>G (p.Ser2356Ala)
c.4330T>G (p.Ser1444Ala)
c.3223T>G (p.Ser1075Ala)
n.1830+5582A>C
c.7249T>G (p.Ser2417Ala)
c.3001T>G (p.Ser1001Ala)
c.6229T>G (p.Ser2077Ala)
8g.99776897C>ACA371875789VPS13Bc.7445C>A (p.Ser2482Tyr)
n.7515C>A
c.*3127C>A (n.*3127C>A)
c.7370C>A (p.Ser2457Tyr)
n.378-1785C>A
c.7442C>A (p.Ser2481Tyr)
c.7367C>A (p.Ser2456Tyr)
c.7067C>A (p.Ser2356Tyr)
c.4331C>A (p.Ser1444Tyr)
c.3224C>A (p.Ser1075Tyr)
n.1830+5581G>T
c.7250C>A (p.Ser2417Tyr)
c.3002C>A (p.Ser1001Tyr)
c.6230C>A (p.Ser2077Tyr)
8g.99776897C>GCA4824199VPS13Bc.7445C>G (p.Ser2482Cys)
n.7515C>G
c.*3127C>G (n.*3127C>G)
c.7370C>G (p.Ser2457Cys)
n.378-1785C>G
c.7442C>G (p.Ser2481Cys)
c.7367C>G (p.Ser2456Cys)
c.7067C>G (p.Ser2356Cys)
c.4331C>G (p.Ser1444Cys)
c.3224C>G (p.Ser1075Cys)
n.1830+5581G>C
c.7250C>G (p.Ser2417Cys)
c.3002C>G (p.Ser1001Cys)
c.6230C>G (p.Ser2077Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776897C>TCA371875790VPS13Bc.7445C>T (p.Ser2482Phe)
n.7515C>T
c.*3127C>T (n.*3127C>T)
c.7370C>T (p.Ser2457Phe)
n.378-1785C>T
c.7442C>T (p.Ser2481Phe)
c.7367C>T (p.Ser2456Phe)
c.7067C>T (p.Ser2356Phe)
c.4331C>T (p.Ser1444Phe)
c.3224C>T (p.Ser1075Phe)
n.1830+5581G>A
c.7250C>T (p.Ser2417Phe)
c.3002C>T (p.Ser1001Phe)
c.6230C>T (p.Ser2077Phe)
8g.99776898T>ACA462449216VPS13Bc.7446T>A (p.Ser2482=)
n.7516T>A
c.*3128T>A (n.*3128T>A)
c.7371T>A (p.Ser2457=)
n.378-1784T>A
c.7443T>A (p.Ser2481=)
c.7368T>A (p.Ser2456=)
c.7068T>A (p.Ser2356=)
c.4332T>A (p.Ser1444=)
c.3225T>A (p.Ser1075=)
n.1830+5580A>T
c.7251T>A (p.Ser2417=)
c.3003T>A (p.Ser1001=)
c.6231T>A (p.Ser2077=)
8g.99776898T>CCA4824200VPS13Bc.7446T>C (p.Ser2482=)
n.7516T>C
c.*3128T>C (n.*3128T>C)
c.7371T>C (p.Ser2457=)
n.378-1784T>C
c.7443T>C (p.Ser2481=)
c.7368T>C (p.Ser2456=)
c.7068T>C (p.Ser2356=)
c.4332T>C (p.Ser1444=)
c.3225T>C (p.Ser1075=)
n.1830+5580A>G
c.7251T>C (p.Ser2417=)
c.3003T>C (p.Ser1001=)
c.6231T>C (p.Ser2077=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776898T>GCA462449217VPS13Bc.7446T>G (p.Ser2482=)
n.7516T>G
c.*3128T>G (n.*3128T>G)
c.7371T>G (p.Ser2457=)
n.378-1784T>G
c.7443T>G (p.Ser2481=)
c.7368T>G (p.Ser2456=)
c.7068T>G (p.Ser2356=)
c.4332T>G (p.Ser1444=)
c.3225T>G (p.Ser1075=)
n.1830+5580A>C
c.7251T>G (p.Ser2417=)
c.3003T>G (p.Ser1001=)
c.6231T>G (p.Ser2077=)

Number of alleles fetched