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.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=)
8g.99776899T>ACA371875791VPS13Bc.7447T>A (p.Phe2483Ile)
n.7517T>A
c.*3129T>A (n.*3129T>A)
c.7372T>A (p.Phe2458Ile)
n.378-1783T>A
c.7444T>A (p.Phe2482Ile)
c.7369T>A (p.Phe2457Ile)
c.7069T>A (p.Phe2357Ile)
c.4333T>A (p.Phe1445Ile)
c.3226T>A (p.Phe1076Ile)
n.1830+5579A>T
c.7252T>A (p.Phe2418Ile)
c.3004T>A (p.Phe1002Ile)
c.6232T>A (p.Phe2078Ile)
8g.99776899T>CCA371875792VPS13Bc.7447T>C (p.Phe2483Leu)
n.7517T>C
c.*3129T>C (n.*3129T>C)
c.7372T>C (p.Phe2458Leu)
n.378-1783T>C
c.7444T>C (p.Phe2482Leu)
c.7369T>C (p.Phe2457Leu)
c.7069T>C (p.Phe2357Leu)
c.4333T>C (p.Phe1445Leu)
c.3226T>C (p.Phe1076Leu)
n.1830+5579A>G
c.7252T>C (p.Phe2418Leu)
c.3004T>C (p.Phe1002Leu)
c.6232T>C (p.Phe2078Leu)
8g.99776899T>GCA371875793VPS13Bc.7447T>G (p.Phe2483Val)
n.7517T>G
c.*3129T>G (n.*3129T>G)
c.7372T>G (p.Phe2458Val)
n.378-1783T>G
c.7444T>G (p.Phe2482Val)
c.7369T>G (p.Phe2457Val)
c.7069T>G (p.Phe2357Val)
c.4333T>G (p.Phe1445Val)
c.3226T>G (p.Phe1076Val)
n.1830+5579A>C
c.7252T>G (p.Phe2418Val)
c.3004T>G (p.Phe1002Val)
c.6232T>G (p.Phe2078Val)
8g.99776900T>ACA371875795VPS13Bc.7448T>A (p.Phe2483Tyr)
n.7518T>A
c.*3130T>A (n.*3130T>A)
c.7373T>A (p.Phe2458Tyr)
n.378-1782T>A
c.7445T>A (p.Phe2482Tyr)
c.7370T>A (p.Phe2457Tyr)
c.7070T>A (p.Phe2357Tyr)
c.4334T>A (p.Phe1445Tyr)
c.3227T>A (p.Phe1076Tyr)
n.1830+5578A>T
c.7253T>A (p.Phe2418Tyr)
c.3005T>A (p.Phe1002Tyr)
c.6233T>A (p.Phe2078Tyr)
8g.99776900T>CCA371875796VPS13Bc.7448T>C (p.Phe2483Ser)
n.7518T>C
c.*3130T>C (n.*3130T>C)
c.7373T>C (p.Phe2458Ser)
n.378-1782T>C
c.7445T>C (p.Phe2482Ser)
c.7370T>C (p.Phe2457Ser)
c.7070T>C (p.Phe2357Ser)
c.4334T>C (p.Phe1445Ser)
c.3227T>C (p.Phe1076Ser)
n.1830+5578A>G
c.7253T>C (p.Phe2418Ser)
c.3005T>C (p.Phe1002Ser)
c.6233T>C (p.Phe2078Ser)
 gnomAD v4
8g.99776900T>GCA371875794VPS13Bc.7448T>G (p.Phe2483Cys)
n.7518T>G
c.*3130T>G (n.*3130T>G)
c.7373T>G (p.Phe2458Cys)
n.378-1782T>G
c.7445T>G (p.Phe2482Cys)
c.7370T>G (p.Phe2457Cys)
c.7070T>G (p.Phe2357Cys)
c.4334T>G (p.Phe1445Cys)
c.3227T>G (p.Phe1076Cys)
n.1830+5578A>C
c.7253T>G (p.Phe2418Cys)
c.3005T>G (p.Phe1002Cys)
c.6233T>G (p.Phe2078Cys)
8g.99776901C>ACA371875798VPS13Bc.7449C>A (p.Phe2483Leu)
n.7519C>A
c.*3131C>A (n.*3131C>A)
c.7374C>A (p.Phe2458Leu)
n.378-1781C>A
c.7446C>A (p.Phe2482Leu)
c.7371C>A (p.Phe2457Leu)
c.7071C>A (p.Phe2357Leu)
c.4335C>A (p.Phe1445Leu)
c.3228C>A (p.Phe1076Leu)
n.1830+5577G>T
c.7254C>A (p.Phe2418Leu)
c.3006C>A (p.Phe1002Leu)
c.6234C>A (p.Phe2078Leu)
8g.99776901C>GCA371875797VPS13Bc.7449C>G (p.Phe2483Leu)
n.7519C>G
c.*3131C>G (n.*3131C>G)
c.7374C>G (p.Phe2458Leu)
n.378-1781C>G
c.7446C>G (p.Phe2482Leu)
c.7371C>G (p.Phe2457Leu)
c.7071C>G (p.Phe2357Leu)
c.4335C>G (p.Phe1445Leu)
c.3228C>G (p.Phe1076Leu)
n.1830+5577G>C
c.7254C>G (p.Phe2418Leu)
c.3006C>G (p.Phe1002Leu)
c.6234C>G (p.Phe2078Leu)
8g.99776901C>TCA462449218VPS13Bc.7449C>T (p.Phe2483=)
n.7519C>T
c.*3131C>T (n.*3131C>T)
c.7374C>T (p.Phe2458=)
n.378-1781C>T
c.7446C>T (p.Phe2482=)
c.7371C>T (p.Phe2457=)
c.7071C>T (p.Phe2357=)
c.4335C>T (p.Phe1445=)
c.3228C>T (p.Phe1076=)
n.1830+5577G>A
c.7254C>T (p.Phe2418=)
c.3006C>T (p.Phe1002=)
c.6234C>T (p.Phe2078=)
 ClinVar gnomAD v4
8g.99776902C>ACA371875799VPS13Bc.7450C>A (p.Gln2484Lys)
n.7520C>A
c.*3132C>A (n.*3132C>A)
c.7375C>A (p.Gln2459Lys)
n.378-1780C>A
c.7447C>A (p.Gln2483Lys)
c.7372C>A (p.Gln2458Lys)
c.7072C>A (p.Gln2358Lys)
c.4336C>A (p.Gln1446Lys)
c.3229C>A (p.Gln1077Lys)
n.1830+5576G>T
c.7255C>A (p.Gln2419Lys)
c.3007C>A (p.Gln1003Lys)
c.6235C>A (p.Gln2079Lys)
8g.99776902C>GCA371875800VPS13Bc.7450C>G (p.Gln2484Glu)
n.7520C>G
c.*3132C>G (n.*3132C>G)
c.7375C>G (p.Gln2459Glu)
n.378-1780C>G
c.7447C>G (p.Gln2483Glu)
c.7372C>G (p.Gln2458Glu)
c.7072C>G (p.Gln2358Glu)
c.4336C>G (p.Gln1446Glu)
c.3229C>G (p.Gln1077Glu)
n.1830+5576G>C
c.7255C>G (p.Gln2419Glu)
c.3007C>G (p.Gln1003Glu)
c.6235C>G (p.Gln2079Glu)
8g.99776902C>TCA371875801VPS13Bc.7450C>T (p.Gln2484Ter)
n.7520C>T
c.*3132C>T (n.*3132C>T)
c.7375C>T (p.Gln2459Ter)
n.378-1780C>T
c.7447C>T (p.Gln2483Ter)
c.7372C>T (p.Gln2458Ter)
c.7072C>T (p.Gln2358Ter)
c.4336C>T (p.Gln1446Ter)
c.3229C>T (p.Gln1077Ter)
n.1830+5576G>A
c.7255C>T (p.Gln2419Ter)
c.3007C>T (p.Gln1003Ter)
c.6235C>T (p.Gln2079Ter)
8g.99776903_99776909delCA2497230830VPS13Bc.7451_7457del (p.Gln2484LeufsTer14)
n.7521_7527del
c.*3133_*3139del (n.*3133_*3139del)
c.7376_7382del (p.Gln2459LeufsTer14)
n.378-1779_378-1773del
c.7448_7454del (p.Gln2483LeufsTer14)
c.7373_7379del (p.Gln2458LeufsTer14)
c.7073_7079del (p.Gln2358LeufsTer14)
c.4337_4343del (p.Gln1446LeufsTer14)
c.3230_3236del (p.Gln1077LeufsTer14)
n.1830+5570_1830+5576del
c.7256_7262del (p.Gln2419LeufsTer14)
c.3008_3014del (p.Gln1003LeufsTer14)
c.6236_6242del (p.Gln2079LeufsTer14)
 dbSNP
8g.99776903A>CCA371875802VPS13Bc.7451A>C (p.Gln2484Pro)
n.7521A>C
c.*3133A>C (n.*3133A>C)
c.7376A>C (p.Gln2459Pro)
n.378-1779A>C
c.7448A>C (p.Gln2483Pro)
c.7373A>C (p.Gln2458Pro)
c.7073A>C (p.Gln2358Pro)
c.4337A>C (p.Gln1446Pro)
c.3230A>C (p.Gln1077Pro)
n.1830+5575T>G
c.7256A>C (p.Gln2419Pro)
c.3008A>C (p.Gln1003Pro)
c.6236A>C (p.Gln2079Pro)
8g.99776903A>GCA371875803VPS13Bc.7451A>G (p.Gln2484Arg)
n.7521A>G
c.*3133A>G (n.*3133A>G)
c.7376A>G (p.Gln2459Arg)
n.378-1779A>G
c.7448A>G (p.Gln2483Arg)
c.7373A>G (p.Gln2458Arg)
c.7073A>G (p.Gln2358Arg)
c.4337A>G (p.Gln1446Arg)
c.3230A>G (p.Gln1077Arg)
n.1830+5575T>C
c.7256A>G (p.Gln2419Arg)
c.3008A>G (p.Gln1003Arg)
c.6236A>G (p.Gln2079Arg)
8g.99776903A>TCA371875804VPS13Bc.7451A>T (p.Gln2484Leu)
n.7521A>T
c.*3133A>T (n.*3133A>T)
c.7376A>T (p.Gln2459Leu)
n.378-1779A>T
c.7448A>T (p.Gln2483Leu)
c.7373A>T (p.Gln2458Leu)
c.7073A>T (p.Gln2358Leu)
c.4337A>T (p.Gln1446Leu)
c.3230A>T (p.Gln1077Leu)
n.1830+5575T>A
c.7256A>T (p.Gln2419Leu)
c.3008A>T (p.Gln1003Leu)
c.6236A>T (p.Gln2079Leu)
8g.99776904G>ACA462449219VPS13Bc.7452G>A (p.Gln2484=)
n.7522G>A
c.*3134G>A (n.*3134G>A)
c.7377G>A (p.Gln2459=)
n.378-1778G>A
c.7449G>A (p.Gln2483=)
c.7374G>A (p.Gln2458=)
c.7074G>A (p.Gln2358=)
c.4338G>A (p.Gln1446=)
c.3231G>A (p.Gln1077=)
n.1830+5574C>T
c.7257G>A (p.Gln2419=)
c.3009G>A (p.Gln1003=)
c.6237G>A (p.Gln2079=)
8g.99776904G>CCA371875805VPS13Bc.7452G>C (p.Gln2484His)
n.7522G>C
c.*3134G>C (n.*3134G>C)
c.7377G>C (p.Gln2459His)
n.378-1778G>C
c.7449G>C (p.Gln2483His)
c.7374G>C (p.Gln2458His)
c.7074G>C (p.Gln2358His)
c.4338G>C (p.Gln1446His)
c.3231G>C (p.Gln1077His)
n.1830+5574C>G
c.7257G>C (p.Gln2419His)
c.3009G>C (p.Gln1003His)
c.6237G>C (p.Gln2079His)
 ClinVar gnomAD v4
8g.99776904G>TCA371875806VPS13Bc.7452G>T (p.Gln2484His)
n.7522G>T
c.*3134G>T (n.*3134G>T)
c.7377G>T (p.Gln2459His)
n.378-1778G>T
c.7449G>T (p.Gln2483His)
c.7374G>T (p.Gln2458His)
c.7074G>T (p.Gln2358His)
c.4338G>T (p.Gln1446His)
c.3231G>T (p.Gln1077His)
n.1830+5574C>A
c.7257G>T (p.Gln2419His)
c.3009G>T (p.Gln1003His)
c.6237G>T (p.Gln2079His)
8g.99776905T>ACA371875807VPS13Bc.7453T>A (p.Phe2485Ile)
n.7523T>A
c.*3135T>A (n.*3135T>A)
c.7378T>A (p.Phe2460Ile)
n.378-1777T>A
c.7450T>A (p.Phe2484Ile)
c.7375T>A (p.Phe2459Ile)
c.7075T>A (p.Phe2359Ile)
c.4339T>A (p.Phe1447Ile)
c.3232T>A (p.Phe1078Ile)
n.1830+5573A>T
c.7258T>A (p.Phe2420Ile)
c.3010T>A (p.Phe1004Ile)
c.6238T>A (p.Phe2080Ile)
8g.99776905T>CCA371875808VPS13Bc.7453T>C (p.Phe2485Leu)
n.7523T>C
c.*3135T>C (n.*3135T>C)
c.7378T>C (p.Phe2460Leu)
n.378-1777T>C
c.7450T>C (p.Phe2484Leu)
c.7375T>C (p.Phe2459Leu)
c.7075T>C (p.Phe2359Leu)
c.4339T>C (p.Phe1447Leu)
c.3232T>C (p.Phe1078Leu)
n.1830+5573A>G
c.7258T>C (p.Phe2420Leu)
c.3010T>C (p.Phe1004Leu)
c.6238T>C (p.Phe2080Leu)
 dbSNP
8g.99776905T>GCA371875809VPS13Bc.7453T>G (p.Phe2485Val)
n.7523T>G
c.*3135T>G (n.*3135T>G)
c.7378T>G (p.Phe2460Val)
n.378-1777T>G
c.7450T>G (p.Phe2484Val)
c.7375T>G (p.Phe2459Val)
c.7075T>G (p.Phe2359Val)
c.4339T>G (p.Phe1447Val)
c.3232T>G (p.Phe1078Val)
n.1830+5573A>C
c.7258T>G (p.Phe2420Val)
c.3010T>G (p.Phe1004Val)
c.6238T>G (p.Phe2080Val)
8g.99776906T>ACA371875811VPS13Bc.7454T>A (p.Phe2485Tyr)
n.7524T>A
c.*3136T>A (n.*3136T>A)
c.7379T>A (p.Phe2460Tyr)
n.378-1776T>A
c.7451T>A (p.Phe2484Tyr)
c.7376T>A (p.Phe2459Tyr)
c.7076T>A (p.Phe2359Tyr)
c.4340T>A (p.Phe1447Tyr)
c.3233T>A (p.Phe1078Tyr)
n.1830+5572A>T
c.7259T>A (p.Phe2420Tyr)
c.3011T>A (p.Phe1004Tyr)
c.6239T>A (p.Phe2080Tyr)
 dbSNP
8g.99776906T>CCA371875812VPS13Bc.7454T>C (p.Phe2485Ser)
n.7524T>C
c.*3136T>C (n.*3136T>C)
c.7379T>C (p.Phe2460Ser)
n.378-1776T>C
c.7451T>C (p.Phe2484Ser)
c.7376T>C (p.Phe2459Ser)
c.7076T>C (p.Phe2359Ser)
c.4340T>C (p.Phe1447Ser)
c.3233T>C (p.Phe1078Ser)
n.1830+5572A>G
c.7259T>C (p.Phe2420Ser)
c.3011T>C (p.Phe1004Ser)
c.6239T>C (p.Phe2080Ser)
8g.99776906T>GCA371875810VPS13Bc.7454T>G (p.Phe2485Cys)
n.7524T>G
c.*3136T>G (n.*3136T>G)
c.7379T>G (p.Phe2460Cys)
n.378-1776T>G
c.7451T>G (p.Phe2484Cys)
c.7376T>G (p.Phe2459Cys)
c.7076T>G (p.Phe2359Cys)
c.4340T>G (p.Phe1447Cys)
c.3233T>G (p.Phe1078Cys)
n.1830+5572A>C
c.7259T>G (p.Phe2420Cys)
c.3011T>G (p.Phe1004Cys)
c.6239T>G (p.Phe2080Cys)
8g.99776907T>ACA371875813VPS13Bc.7455T>A (p.Phe2485Leu)
n.7525T>A
c.*3137T>A (n.*3137T>A)
c.7380T>A (p.Phe2460Leu)
n.378-1775T>A
c.7452T>A (p.Phe2484Leu)
c.7377T>A (p.Phe2459Leu)
c.7077T>A (p.Phe2359Leu)
c.4341T>A (p.Phe1447Leu)
c.3234T>A (p.Phe1078Leu)
n.1830+5571A>T
c.7260T>A (p.Phe2420Leu)
c.3012T>A (p.Phe1004Leu)
c.6240T>A (p.Phe2080Leu)
8g.99776907T>CCA462449220VPS13Bc.7455T>C (p.Phe2485=)
n.7525T>C
c.*3137T>C (n.*3137T>C)
c.7380T>C (p.Phe2460=)
n.378-1775T>C
c.7452T>C (p.Phe2484=)
c.7377T>C (p.Phe2459=)
c.7077T>C (p.Phe2359=)
c.4341T>C (p.Phe1447=)
c.3234T>C (p.Phe1078=)
n.1830+5571A>G
c.7260T>C (p.Phe2420=)
c.3012T>C (p.Phe1004=)
c.6240T>C (p.Phe2080=)
8g.99776907T>GCA4824201VPS13Bc.7455T>G (p.Phe2485Leu)
n.7525T>G
c.*3137T>G (n.*3137T>G)
c.7380T>G (p.Phe2460Leu)
n.378-1775T>G
c.7452T>G (p.Phe2484Leu)
c.7377T>G (p.Phe2459Leu)
c.7077T>G (p.Phe2359Leu)
c.4341T>G (p.Phe1447Leu)
c.3234T>G (p.Phe1078Leu)
n.1830+5571A>C
c.7260T>G (p.Phe2420Leu)
c.3012T>G (p.Phe1004Leu)
c.6240T>G (p.Phe2080Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776908G>ACA371875814VPS13Bc.7456G>A (p.Ala2486Thr)
n.7526G>A
c.*3138G>A (n.*3138G>A)
c.7381G>A (p.Ala2461Thr)
n.378-1774G>A
c.7453G>A (p.Ala2485Thr)
c.7378G>A (p.Ala2460Thr)
c.7078G>A (p.Ala2360Thr)
c.4342G>A (p.Ala1448Thr)
c.3235G>A (p.Ala1079Thr)
n.1830+5570C>T
c.7261G>A (p.Ala2421Thr)
c.3013G>A (p.Ala1005Thr)
c.6241G>A (p.Ala2081Thr)
 gnomAD v4
8g.99776908G>CCA371875815VPS13Bc.7456G>C (p.Ala2486Pro)
n.7526G>C
c.*3138G>C (n.*3138G>C)
c.7381G>C (p.Ala2461Pro)
n.378-1774G>C
c.7453G>C (p.Ala2485Pro)
c.7378G>C (p.Ala2460Pro)
c.7078G>C (p.Ala2360Pro)
c.4342G>C (p.Ala1448Pro)
c.3235G>C (p.Ala1079Pro)
n.1830+5570C>G
c.7261G>C (p.Ala2421Pro)
c.3013G>C (p.Ala1005Pro)
c.6241G>C (p.Ala2081Pro)
8g.99776908G>TCA371875816VPS13Bc.7456G>T (p.Ala2486Ser)
n.7526G>T
c.*3138G>T (n.*3138G>T)
c.7381G>T (p.Ala2461Ser)
n.378-1774G>T
c.7453G>T (p.Ala2485Ser)
c.7378G>T (p.Ala2460Ser)
c.7078G>T (p.Ala2360Ser)
c.4342G>T (p.Ala1448Ser)
c.3235G>T (p.Ala1079Ser)
n.1830+5570C>A
c.7261G>T (p.Ala2421Ser)
c.3013G>T (p.Ala1005Ser)
c.6241G>T (p.Ala2081Ser)
 gnomAD v4
8g.99776909C>ACA371875819VPS13Bc.7457C>A (p.Ala2486Asp)
n.7527C>A
c.*3139C>A (n.*3139C>A)
c.7382C>A (p.Ala2461Asp)
n.378-1773C>A
c.7454C>A (p.Ala2485Asp)
c.7379C>A (p.Ala2460Asp)
c.7079C>A (p.Ala2360Asp)
c.4343C>A (p.Ala1448Asp)
c.3236C>A (p.Ala1079Asp)
n.1830+5569G>T
c.7262C>A (p.Ala2421Asp)
c.3014C>A (p.Ala1005Asp)
c.6242C>A (p.Ala2081Asp)
8g.99776909C>GCA371875817VPS13Bc.7457C>G (p.Ala2486Gly)
n.7527C>G
c.*3139C>G (n.*3139C>G)
c.7382C>G (p.Ala2461Gly)
n.378-1773C>G
c.7454C>G (p.Ala2485Gly)
c.7379C>G (p.Ala2460Gly)
c.7079C>G (p.Ala2360Gly)
c.4343C>G (p.Ala1448Gly)
c.3236C>G (p.Ala1079Gly)
n.1830+5569G>C
c.7262C>G (p.Ala2421Gly)
c.3014C>G (p.Ala1005Gly)
c.6242C>G (p.Ala2081Gly)
8g.99776909C>TCA371875818VPS13Bc.7457C>T (p.Ala2486Val)
n.7527C>T
c.*3139C>T (n.*3139C>T)
c.7382C>T (p.Ala2461Val)
n.378-1773C>T
c.7454C>T (p.Ala2485Val)
c.7379C>T (p.Ala2460Val)
c.7079C>T (p.Ala2360Val)
c.4343C>T (p.Ala1448Val)
c.3236C>T (p.Ala1079Val)
n.1830+5569G>A
c.7262C>T (p.Ala2421Val)
c.3014C>T (p.Ala1005Val)
c.6242C>T (p.Ala2081Val)
8g.99776910T>ACA462449221VPS13Bc.7458T>A (p.Ala2486=)
n.7528T>A
c.*3140T>A (n.*3140T>A)
c.7383T>A (p.Ala2461=)
n.378-1772T>A
c.7455T>A (p.Ala2485=)
c.7380T>A (p.Ala2460=)
c.7080T>A (p.Ala2360=)
c.4344T>A (p.Ala1448=)
c.3237T>A (p.Ala1079=)
n.1830+5568A>T
c.7263T>A (p.Ala2421=)
c.3015T>A (p.Ala1005=)
c.6243T>A (p.Ala2081=)
8g.99776910T>CCA462449222VPS13Bc.7458T>C (p.Ala2486=)
n.7528T>C
c.*3140T>C (n.*3140T>C)
c.7383T>C (p.Ala2461=)
n.378-1772T>C
c.7455T>C (p.Ala2485=)
c.7380T>C (p.Ala2460=)
c.7080T>C (p.Ala2360=)
c.4344T>C (p.Ala1448=)
c.3237T>C (p.Ala1079=)
n.1830+5568A>G
c.7263T>C (p.Ala2421=)
c.3015T>C (p.Ala1005=)
c.6243T>C (p.Ala2081=)
8g.99776910T>GCA462449223VPS13Bc.7458T>G (p.Ala2486=)
n.7528T>G
c.*3140T>G (n.*3140T>G)
c.7383T>G (p.Ala2461=)
n.378-1772T>G
c.7455T>G (p.Ala2485=)
c.7380T>G (p.Ala2460=)
c.7080T>G (p.Ala2360=)
c.4344T>G (p.Ala1448=)
c.3237T>G (p.Ala1079=)
n.1830+5568A>C
c.7263T>G (p.Ala2421=)
c.3015T>G (p.Ala1005=)
c.6243T>G (p.Ala2081=)
8g.99776911C>ACA371875820VPS13Bc.7459C>A (p.His2487Asn)
n.7529C>A
c.*3141C>A (n.*3141C>A)
c.7384C>A (p.His2462Asn)
n.378-1771C>A
c.7456C>A (p.His2486Asn)
c.7381C>A (p.His2461Asn)
c.7081C>A (p.His2361Asn)
c.4345C>A (p.His1449Asn)
c.3238C>A (p.His1080Asn)
n.1830+5567G>T
c.7264C>A (p.His2422Asn)
c.3016C>A (p.His1006Asn)
c.6244C>A (p.His2082Asn)
8g.99776911C>GCA371875821VPS13Bc.7459C>G (p.His2487Asp)
n.7529C>G
c.*3141C>G (n.*3141C>G)
c.7384C>G (p.His2462Asp)
n.378-1771C>G
c.7456C>G (p.His2486Asp)
c.7381C>G (p.His2461Asp)
c.7081C>G (p.His2361Asp)
c.4345C>G (p.His1449Asp)
c.3238C>G (p.His1080Asp)
n.1830+5567G>C
c.7264C>G (p.His2422Asp)
c.3016C>G (p.His1006Asp)
c.6244C>G (p.His2082Asp)
8g.99776911C>TCA371875822VPS13Bc.7459C>T (p.His2487Tyr)
n.7529C>T
c.*3141C>T (n.*3141C>T)
c.7384C>T (p.His2462Tyr)
n.378-1771C>T
c.7456C>T (p.His2486Tyr)
c.7381C>T (p.His2461Tyr)
c.7081C>T (p.His2361Tyr)
c.4345C>T (p.His1449Tyr)
c.3238C>T (p.His1080Tyr)
n.1830+5567G>A
c.7264C>T (p.His2422Tyr)
c.3016C>T (p.His1006Tyr)
c.6244C>T (p.His2082Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.99776912A>CCA4824202VPS13Bc.7460A>C (p.His2487Pro)
n.7530A>C
c.*3142A>C (n.*3142A>C)
c.7385A>C (p.His2462Pro)
n.378-1770A>C
c.7457A>C (p.His2486Pro)
c.7382A>C (p.His2461Pro)
c.7082A>C (p.His2361Pro)
c.4346A>C (p.His1449Pro)
c.3239A>C (p.His1080Pro)
n.1830+5566T>G
c.7265A>C (p.His2422Pro)
c.3017A>C (p.His1006Pro)
c.6245A>C (p.His2082Pro)
 dbSNP ExAC gnomAD v2
8g.99776912A>GCA371875823VPS13Bc.7460A>G (p.His2487Arg)
n.7530A>G
c.*3142A>G (n.*3142A>G)
c.7385A>G (p.His2462Arg)
n.378-1770A>G
c.7457A>G (p.His2486Arg)
c.7382A>G (p.His2461Arg)
c.7082A>G (p.His2361Arg)
c.4346A>G (p.His1449Arg)
c.3239A>G (p.His1080Arg)
n.1830+5566T>C
c.7265A>G (p.His2422Arg)
c.3017A>G (p.His1006Arg)
c.6245A>G (p.His2082Arg)
8g.99776912A>TCA371875824VPS13Bc.7460A>T (p.His2487Leu)
n.7530A>T
c.*3142A>T (n.*3142A>T)
c.7385A>T (p.His2462Leu)
n.378-1770A>T
c.7457A>T (p.His2486Leu)
c.7382A>T (p.His2461Leu)
c.7082A>T (p.His2361Leu)
c.4346A>T (p.His1449Leu)
c.3239A>T (p.His1080Leu)
n.1830+5566T>A
c.7265A>T (p.His2422Leu)
c.3017A>T (p.His1006Leu)
c.6245A>T (p.His2082Leu)
8g.99776913C>ACA371875825VPS13Bc.7461C>A (p.His2487Gln)
n.7531C>A
c.*3143C>A (n.*3143C>A)
c.7386C>A (p.His2462Gln)
n.378-1769C>A
c.7458C>A (p.His2486Gln)
c.7383C>A (p.His2461Gln)
c.7083C>A (p.His2361Gln)
c.4347C>A (p.His1449Gln)
c.3240C>A (p.His1080Gln)
n.1830+5565G>T
c.7266C>A (p.His2422Gln)
c.3018C>A (p.His1006Gln)
c.6246C>A (p.His2082Gln)
8g.99776913C>GCA371875826VPS13Bc.7461C>G (p.His2487Gln)
n.7531C>G
c.*3143C>G (n.*3143C>G)
c.7386C>G (p.His2462Gln)
n.378-1769C>G
c.7458C>G (p.His2486Gln)
c.7383C>G (p.His2461Gln)
c.7083C>G (p.His2361Gln)
c.4347C>G (p.His1449Gln)
c.3240C>G (p.His1080Gln)
n.1830+5565G>C
c.7266C>G (p.His2422Gln)
c.3018C>G (p.His1006Gln)
c.6246C>G (p.His2082Gln)
8g.99776913C>TCA462449224VPS13Bc.7461C>T (p.His2487=)
n.7531C>T
c.*3143C>T (n.*3143C>T)
c.7386C>T (p.His2462=)
n.378-1769C>T
c.7458C>T (p.His2486=)
c.7383C>T (p.His2461=)
c.7083C>T (p.His2361=)
c.4347C>T (p.His1449=)
c.3240C>T (p.His1080=)
n.1830+5565G>A
c.7266C>T (p.His2422=)
c.3018C>T (p.His1006=)
c.6246C>T (p.His2082=)
8g.99776914C>ACA371875827VPS13Bc.7462C>A (p.Leu2488Met)
n.7532C>A
c.*3144C>A (n.*3144C>A)
c.7387C>A (p.Leu2463Met)
n.378-1768C>A
c.7459C>A (p.Leu2487Met)
c.7384C>A (p.Leu2462Met)
c.7084C>A (p.Leu2362Met)
c.4348C>A (p.Leu1450Met)
c.3241C>A (p.Leu1081Met)
n.1830+5564G>T
c.7267C>A (p.Leu2423Met)
c.3019C>A (p.Leu1007Met)
c.6247C>A (p.Leu2083Met)
8g.99776914C>GCA371875828VPS13Bc.7462C>G (p.Leu2488Val)
n.7532C>G
c.*3144C>G (n.*3144C>G)
c.7387C>G (p.Leu2463Val)
n.378-1768C>G
c.7459C>G (p.Leu2487Val)
c.7384C>G (p.Leu2462Val)
c.7084C>G (p.Leu2362Val)
c.4348C>G (p.Leu1450Val)
c.3241C>G (p.Leu1081Val)
n.1830+5564G>C
c.7267C>G (p.Leu2423Val)
c.3019C>G (p.Leu1007Val)
c.6247C>G (p.Leu2083Val)
 gnomAD v4
8g.99776914C>TCA462449225VPS13Bc.7462C>T (p.Leu2488=)
n.7532C>T
c.*3144C>T (n.*3144C>T)
c.7387C>T (p.Leu2463=)
n.378-1768C>T
c.7459C>T (p.Leu2487=)
c.7384C>T (p.Leu2462=)
c.7084C>T (p.Leu2362=)
c.4348C>T (p.Leu1450=)
c.3241C>T (p.Leu1081=)
n.1830+5564G>A
c.7267C>T (p.Leu2423=)
c.3019C>T (p.Leu1007=)
c.6247C>T (p.Leu2083=)
8g.99776915T>ACA371875829VPS13Bc.7463T>A (p.Leu2488Gln)
n.7533T>A
c.*3145T>A (n.*3145T>A)
c.7388T>A (p.Leu2463Gln)
n.378-1767T>A
c.7460T>A (p.Leu2487Gln)
c.7385T>A (p.Leu2462Gln)
c.7085T>A (p.Leu2362Gln)
c.4349T>A (p.Leu1450Gln)
c.3242T>A (p.Leu1081Gln)
n.1830+5563A>T
c.7268T>A (p.Leu2423Gln)
c.3020T>A (p.Leu1007Gln)
c.6248T>A (p.Leu2083Gln)
8g.99776915T>CCA371875830VPS13Bc.7463T>C (p.Leu2488Pro)
n.7533T>C
c.*3145T>C (n.*3145T>C)
c.7388T>C (p.Leu2463Pro)
n.378-1767T>C
c.7460T>C (p.Leu2487Pro)
c.7385T>C (p.Leu2462Pro)
c.7085T>C (p.Leu2362Pro)
c.4349T>C (p.Leu1450Pro)
c.3242T>C (p.Leu1081Pro)
n.1830+5563A>G
c.7268T>C (p.Leu2423Pro)
c.3020T>C (p.Leu1007Pro)
c.6248T>C (p.Leu2083Pro)
8g.99776915T>GCA371875831VPS13Bc.7463T>G (p.Leu2488Arg)
n.7533T>G
c.*3145T>G (n.*3145T>G)
c.7388T>G (p.Leu2463Arg)
n.378-1767T>G
c.7460T>G (p.Leu2487Arg)
c.7385T>G (p.Leu2462Arg)
c.7085T>G (p.Leu2362Arg)
c.4349T>G (p.Leu1450Arg)
c.3242T>G (p.Leu1081Arg)
n.1830+5563A>C
c.7268T>G (p.Leu2423Arg)
c.3020T>G (p.Leu1007Arg)
c.6248T>G (p.Leu2083Arg)
 gnomAD v4
8g.99776916G>ACA462449226VPS13Bc.7464G>A (p.Leu2488=)
n.7534G>A
c.*3146G>A (n.*3146G>A)
c.7389G>A (p.Leu2463=)
n.378-1766G>A
c.7461G>A (p.Leu2487=)
c.7386G>A (p.Leu2462=)
c.7086G>A (p.Leu2362=)
c.4350G>A (p.Leu1450=)
c.3243G>A (p.Leu1081=)
n.1830+5562C>T
c.7269G>A (p.Leu2423=)
c.3021G>A (p.Leu1007=)
c.6249G>A (p.Leu2083=)
8g.99776916G>CCA462449227VPS13Bc.7464G>C (p.Leu2488=)
n.7534G>C
c.*3146G>C (n.*3146G>C)
c.7389G>C (p.Leu2463=)
n.378-1766G>C
c.7461G>C (p.Leu2487=)
c.7386G>C (p.Leu2462=)
c.7086G>C (p.Leu2362=)
c.4350G>C (p.Leu1450=)
c.3243G>C (p.Leu1081=)
n.1830+5562C>G
c.7269G>C (p.Leu2423=)
c.3021G>C (p.Leu1007=)
c.6249G>C (p.Leu2083=)
8g.99776916G>TCA462449228VPS13Bc.7464G>T (p.Leu2488=)
n.7534G>T
c.*3146G>T (n.*3146G>T)
c.7389G>T (p.Leu2463=)
n.378-1766G>T
c.7461G>T (p.Leu2487=)
c.7386G>T (p.Leu2462=)
c.7086G>T (p.Leu2362=)
c.4350G>T (p.Leu1450=)
c.3243G>T (p.Leu1081=)
n.1830+5562C>A
c.7269G>T (p.Leu2423=)
c.3021G>T (p.Leu1007=)
c.6249G>T (p.Leu2083=)
8g.99776917G>ACA371875832VPS13Bc.7465G>A (p.Glu2489Lys)
n.7535G>A
c.*3147G>A (n.*3147G>A)
c.7390G>A (p.Glu2464Lys)
n.378-1765G>A
c.7462G>A (p.Glu2488Lys)
c.7387G>A (p.Glu2463Lys)
c.7087G>A (p.Glu2363Lys)
c.4351G>A (p.Glu1451Lys)
c.3244G>A (p.Glu1082Lys)
n.1830+5561C>T
c.7270G>A (p.Glu2424Lys)
c.3022G>A (p.Glu1008Lys)
c.6250G>A (p.Glu2084Lys)
8g.99776917G>CCA4824203VPS13Bc.7465G>C (p.Glu2489Gln)
n.7535G>C
c.*3147G>C (n.*3147G>C)
c.7390G>C (p.Glu2464Gln)
n.378-1765G>C
c.7462G>C (p.Glu2488Gln)
c.7387G>C (p.Glu2463Gln)
c.7087G>C (p.Glu2363Gln)
c.4351G>C (p.Glu1451Gln)
c.3244G>C (p.Glu1082Gln)
n.1830+5561C>G
c.7270G>C (p.Glu2424Gln)
c.3022G>C (p.Glu1008Gln)
c.6250G>C (p.Glu2084Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.99776917G>TCA371875833VPS13Bc.7465G>T (p.Glu2489Ter)
n.7535G>T
c.*3147G>T (n.*3147G>T)
c.7390G>T (p.Glu2464Ter)
n.378-1765G>T
c.7462G>T (p.Glu2488Ter)
c.7387G>T (p.Glu2463Ter)
c.7087G>T (p.Glu2363Ter)
c.4351G>T (p.Glu1451Ter)
c.3244G>T (p.Glu1082Ter)
n.1830+5561C>A
c.7270G>T (p.Glu2424Ter)
c.3022G>T (p.Glu1008Ter)
c.6250G>T (p.Glu2084Ter)
 gnomAD v4
8g.99776918A>CCA371875834VPS13Bc.7466A>C (p.Glu2489Ala)
n.7536A>C
c.*3148A>C (n.*3148A>C)
c.7391A>C (p.Glu2464Ala)
n.378-1764A>C
c.7463A>C (p.Glu2488Ala)
c.7388A>C (p.Glu2463Ala)
c.7088A>C (p.Glu2363Ala)
c.4352A>C (p.Glu1451Ala)
c.3245A>C (p.Glu1082Ala)
n.1830+5560T>G
c.7271A>C (p.Glu2424Ala)
c.3023A>C (p.Glu1008Ala)
c.6251A>C (p.Glu2084Ala)
8g.99776918A>GCA371875835VPS13Bc.7466A>G (p.Glu2489Gly)
n.7536A>G
c.*3148A>G (n.*3148A>G)
c.7391A>G (p.Glu2464Gly)
n.378-1764A>G
c.7463A>G (p.Glu2488Gly)
c.7388A>G (p.Glu2463Gly)
c.7088A>G (p.Glu2363Gly)
c.4352A>G (p.Glu1451Gly)
c.3245A>G (p.Glu1082Gly)
n.1830+5560T>C
c.7271A>G (p.Glu2424Gly)
c.3023A>G (p.Glu1008Gly)
c.6251A>G (p.Glu2084Gly)
8g.99776918A>TCA371875836VPS13Bc.7466A>T (p.Glu2489Val)
n.7536A>T
c.*3148A>T (n.*3148A>T)
c.7391A>T (p.Glu2464Val)
n.378-1764A>T
c.7463A>T (p.Glu2488Val)
c.7388A>T (p.Glu2463Val)
c.7088A>T (p.Glu2363Val)
c.4352A>T (p.Glu1451Val)
c.3245A>T (p.Glu1082Val)
n.1830+5560T>A
c.7271A>T (p.Glu2424Val)
c.3023A>T (p.Glu1008Val)
c.6251A>T (p.Glu2084Val)
 dbSNP gnomAD v2 gnomAD v4
8g.99776919A>CCA371875837VPS13Bc.7467A>C (p.Glu2489Asp)
n.7537A>C
c.*3149A>C (n.*3149A>C)
c.7392A>C (p.Glu2464Asp)
n.378-1763A>C
c.7464A>C (p.Glu2488Asp)
c.7389A>C (p.Glu2463Asp)
c.7089A>C (p.Glu2363Asp)
c.4353A>C (p.Glu1451Asp)
c.3246A>C (p.Glu1082Asp)
n.1830+5559T>G
c.7272A>C (p.Glu2424Asp)
c.3024A>C (p.Glu1008Asp)
c.6252A>C (p.Glu2084Asp)
8g.99776919A>GCA4824204VPS13Bc.7467A>G (p.Glu2489=)
n.7537A>G
c.*3149A>G (n.*3149A>G)
c.7392A>G (p.Glu2464=)
n.378-1763A>G
c.7464A>G (p.Glu2488=)
c.7389A>G (p.Glu2463=)
c.7089A>G (p.Glu2363=)
c.4353A>G (p.Glu1451=)
c.3246A>G (p.Glu1082=)
n.1830+5559T>C
c.7272A>G (p.Glu2424=)
c.3024A>G (p.Glu1008=)
c.6252A>G (p.Glu2084=)
 dbSNP ExAC gnomAD v2
8g.99776919A>TCA371875838VPS13Bc.7467A>T (p.Glu2489Asp)
n.7537A>T
c.*3149A>T (n.*3149A>T)
c.7392A>T (p.Glu2464Asp)
n.378-1763A>T
c.7464A>T (p.Glu2488Asp)
c.7389A>T (p.Glu2463Asp)
c.7089A>T (p.Glu2363Asp)
c.4353A>T (p.Glu1451Asp)
c.3246A>T (p.Glu1082Asp)
n.1830+5559T>A
c.7272A>T (p.Glu2424Asp)
c.3024A>T (p.Glu1008Asp)
c.6252A>T (p.Glu2084Asp)
8g.99776920T>ACA371875841VPS13Bc.7468T>A (p.Phe2490Ile)
n.7538T>A
c.*3150T>A (n.*3150T>A)
c.7393T>A (p.Phe2465Ile)
n.378-1762T>A
c.7465T>A (p.Phe2489Ile)
c.7390T>A (p.Phe2464Ile)
c.7090T>A (p.Phe2364Ile)
c.4354T>A (p.Phe1452Ile)
c.3247T>A (p.Phe1083Ile)
n.1830+5558A>T
c.7273T>A (p.Phe2425Ile)
c.3025T>A (p.Phe1009Ile)
c.6253T>A (p.Phe2085Ile)
8g.99776920T>CCA371875840VPS13Bc.7468T>C (p.Phe2490Leu)
n.7538T>C
c.*3150T>C (n.*3150T>C)
c.7393T>C (p.Phe2465Leu)
n.378-1762T>C
c.7465T>C (p.Phe2489Leu)
c.7390T>C (p.Phe2464Leu)
c.7090T>C (p.Phe2364Leu)
c.4354T>C (p.Phe1452Leu)
c.3247T>C (p.Phe1083Leu)
n.1830+5558A>G
c.7273T>C (p.Phe2425Leu)
c.3025T>C (p.Phe1009Leu)
c.6253T>C (p.Phe2085Leu)
8g.99776920T>GCA371875839VPS13Bc.7468T>G (p.Phe2490Val)
n.7538T>G
c.*3150T>G (n.*3150T>G)
c.7393T>G (p.Phe2465Val)
n.378-1762T>G
c.7465T>G (p.Phe2489Val)
c.7390T>G (p.Phe2464Val)
c.7090T>G (p.Phe2364Val)
c.4354T>G (p.Phe1452Val)
c.3247T>G (p.Phe1083Val)
n.1830+5558A>C
c.7273T>G (p.Phe2425Val)
c.3025T>G (p.Phe1009Val)
c.6253T>G (p.Phe2085Val)
8g.99776921delCA2688068079VPS13Bc.7469del (p.Phe2490SerfsTer10)
n.7539del
c.*3151del (n.*3151del)
c.7394del (p.Phe2465SerfsTer10)
n.378-1761del
c.7466del (p.Phe2489SerfsTer10)
c.7391del (p.Phe2464SerfsTer10)
c.7091del (p.Phe2364SerfsTer10)
c.4355del (p.Phe1452SerfsTer10)
c.3248del (p.Phe1083SerfsTer10)
n.1830+5558del
c.7274del (p.Phe2425SerfsTer10)
c.3026del (p.Phe1009SerfsTer10)
c.6254del (p.Phe2085SerfsTer10)
 gnomAD v4
8g.99776921T>ACA371875842VPS13Bc.7469T>A (p.Phe2490Tyr)
n.7539T>A
c.*3151T>A (n.*3151T>A)
c.7394T>A (p.Phe2465Tyr)
n.378-1761T>A
c.7466T>A (p.Phe2489Tyr)
c.7391T>A (p.Phe2464Tyr)
c.7091T>A (p.Phe2364Tyr)
c.4355T>A (p.Phe1452Tyr)
c.3248T>A (p.Phe1083Tyr)
n.1830+5557A>T
c.7274T>A (p.Phe2425Tyr)
c.3026T>A (p.Phe1009Tyr)
c.6254T>A (p.Phe2085Tyr)
 gnomAD v4
8g.99776921T>CCA371875843VPS13Bc.7469T>C (p.Phe2490Ser)
n.7539T>C
c.*3151T>C (n.*3151T>C)
c.7394T>C (p.Phe2465Ser)
n.378-1761T>C
c.7466T>C (p.Phe2489Ser)
c.7391T>C (p.Phe2464Ser)
c.7091T>C (p.Phe2364Ser)
c.4355T>C (p.Phe1452Ser)
c.3248T>C (p.Phe1083Ser)
n.1830+5557A>G
c.7274T>C (p.Phe2425Ser)
c.3026T>C (p.Phe1009Ser)
c.6254T>C (p.Phe2085Ser)
8g.99776921T>GCA371875844VPS13Bc.7469T>G (p.Phe2490Cys)
n.7539T>G
c.*3151T>G (n.*3151T>G)
c.7394T>G (p.Phe2465Cys)
n.378-1761T>G
c.7466T>G (p.Phe2489Cys)
c.7391T>G (p.Phe2464Cys)
c.7091T>G (p.Phe2364Cys)
c.4355T>G (p.Phe1452Cys)
c.3248T>G (p.Phe1083Cys)
n.1830+5557A>C
c.7274T>G (p.Phe2425Cys)
c.3026T>G (p.Phe1009Cys)
c.6254T>G (p.Phe2085Cys)
8g.99776921_99776922delCA913128138VPS13Bc.7469_7470del (p.Phe2490SerfsTer7)
n.7539_7540del
c.*3151_*3152del (n.*3151_*3152del)
c.7394_7395del (p.Phe2465SerfsTer7)
n.378-1761_378-1760del
c.7466_7467del (p.Phe2489SerfsTer7)
c.7391_7392del (p.Phe2464SerfsTer7)
c.7091_7092del (p.Phe2364SerfsTer7)
c.4355_4356del (p.Phe1452SerfsTer7)
c.3248_3249del (p.Phe1083SerfsTer7)
n.1830+5556_1830+5557del
c.7274_7275del (p.Phe2425SerfsTer7)
c.3026_3027del (p.Phe1009SerfsTer7)
c.6254_6255del (p.Phe2085SerfsTer7)
8g.99776922C>ACA371875845VPS13Bc.7470C>A (p.Phe2490Leu)
n.7540C>A
c.*3152C>A (n.*3152C>A)
c.7395C>A (p.Phe2465Leu)
n.378-1760C>A
c.7467C>A (p.Phe2489Leu)
c.7392C>A (p.Phe2464Leu)
c.7092C>A (p.Phe2364Leu)
c.4356C>A (p.Phe1452Leu)
c.3249C>A (p.Phe1083Leu)
n.1830+5556G>T
c.7275C>A (p.Phe2425Leu)
c.3027C>A (p.Phe1009Leu)
c.6255C>A (p.Phe2085Leu)
8g.99776922C>GCA371875846VPS13Bc.7470C>G (p.Phe2490Leu)
n.7540C>G
c.*3152C>G (n.*3152C>G)
c.7395C>G (p.Phe2465Leu)
n.378-1760C>G
c.7467C>G (p.Phe2489Leu)
c.7392C>G (p.Phe2464Leu)
c.7092C>G (p.Phe2364Leu)
c.4356C>G (p.Phe1452Leu)
c.3249C>G (p.Phe1083Leu)
n.1830+5556G>C
c.7275C>G (p.Phe2425Leu)
c.3027C>G (p.Phe1009Leu)
c.6255C>G (p.Phe2085Leu)
8g.99776922C>TCA462449229VPS13Bc.7470C>T (p.Phe2490=)
n.7540C>T
c.*3152C>T (n.*3152C>T)
c.7395C>T (p.Phe2465=)
n.378-1760C>T
c.7467C>T (p.Phe2489=)
c.7392C>T (p.Phe2464=)
c.7092C>T (p.Phe2364=)
c.4356C>T (p.Phe1452=)
c.3249C>T (p.Phe1083=)
n.1830+5556G>A
c.7275C>T (p.Phe2425=)
c.3027C>T (p.Phe1009=)
c.6255C>T (p.Phe2085=)
 ClinVar dbSNP
8g.99776923delCA658821175VPS13Bc.7471del (p.His2491IlefsTer9)
n.7541del
c.*3153del (n.*3153del)
c.7396del (p.His2466IlefsTer9)
n.378-1759del
c.7468del (p.His2490IlefsTer9)
c.7393del (p.His2465IlefsTer9)
c.7093del (p.His2365IlefsTer9)
c.4357del (p.His1453IlefsTer9)
c.3250del (p.His1084IlefsTer9)
n.1830+5556del
c.7276del (p.His2426IlefsTer9)
c.3028del (p.His1010IlefsTer9)
c.6256del (p.His2086IlefsTer9)
 ClinVar dbSNP
8g.99776923C>ACA371875847VPS13Bc.7471C>A (p.His2491Asn)
n.7541C>A
c.*3153C>A (n.*3153C>A)
c.7396C>A (p.His2466Asn)
n.378-1759C>A
c.7468C>A (p.His2490Asn)
c.7393C>A (p.His2465Asn)
c.7093C>A (p.His2365Asn)
c.4357C>A (p.His1453Asn)
c.3250C>A (p.His1084Asn)
n.1830+5555G>T
c.7276C>A (p.His2426Asn)
c.3028C>A (p.His1010Asn)
c.6256C>A (p.His2086Asn)
8g.99776923C>GCA371875848VPS13Bc.7471C>G (p.His2491Asp)
n.7541C>G
c.*3153C>G (n.*3153C>G)
c.7396C>G (p.His2466Asp)
n.378-1759C>G
c.7468C>G (p.His2490Asp)
c.7393C>G (p.His2465Asp)
c.7093C>G (p.His2365Asp)
c.4357C>G (p.His1453Asp)
c.3250C>G (p.His1084Asp)
n.1830+5555G>C
c.7276C>G (p.His2426Asp)
c.3028C>G (p.His1010Asp)
c.6256C>G (p.His2086Asp)
8g.99776923C>TCA4824205VPS13Bc.7471C>T (p.His2491Tyr)
n.7541C>T
c.*3153C>T (n.*3153C>T)
c.7396C>T (p.His2466Tyr)
n.378-1759C>T
c.7468C>T (p.His2490Tyr)
c.7393C>T (p.His2465Tyr)
c.7093C>T (p.His2365Tyr)
c.4357C>T (p.His1453Tyr)
c.3250C>T (p.His1084Tyr)
n.1830+5555G>A
c.7276C>T (p.His2426Tyr)
c.3028C>T (p.His1010Tyr)
c.6256C>T (p.His2086Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.99776924A>CCA371875849VPS13Bc.7472A>C (p.His2491Pro)
n.7542A>C
c.*3154A>C (n.*3154A>C)
c.7397A>C (p.His2466Pro)
n.378-1758A>C
c.7469A>C (p.His2490Pro)
c.7394A>C (p.His2465Pro)
c.7094A>C (p.His2365Pro)
c.4358A>C (p.His1453Pro)
c.3251A>C (p.His1084Pro)
n.1830+5554T>G
c.7277A>C (p.His2426Pro)
c.3029A>C (p.His1010Pro)
c.6257A>C (p.His2086Pro)
8g.99776924A>GCA371875850VPS13Bc.7472A>G (p.His2491Arg)
n.7542A>G
c.*3154A>G (n.*3154A>G)
c.7397A>G (p.His2466Arg)
n.378-1758A>G
c.7469A>G (p.His2490Arg)
c.7394A>G (p.His2465Arg)
c.7094A>G (p.His2365Arg)
c.4358A>G (p.His1453Arg)
c.3251A>G (p.His1084Arg)
n.1830+5554T>C
c.7277A>G (p.His2426Arg)
c.3029A>G (p.His1010Arg)
c.6257A>G (p.His2086Arg)
 dbSNP gnomAD v4
8g.99776924A>TCA371875851VPS13Bc.7472A>T (p.His2491Leu)
n.7542A>T
c.*3154A>T (n.*3154A>T)
c.7397A>T (p.His2466Leu)
n.378-1758A>T
c.7469A>T (p.His2490Leu)
c.7394A>T (p.His2465Leu)
c.7094A>T (p.His2365Leu)
c.4358A>T (p.His1453Leu)
c.3251A>T (p.His1084Leu)
n.1830+5554T>A
c.7277A>T (p.His2426Leu)
c.3029A>T (p.His1010Leu)
c.6257A>T (p.His2086Leu)
8g.99776925T>ACA371875852VPS13Bc.7473T>A (p.His2491Gln)
n.7543T>A
c.*3155T>A (n.*3155T>A)
c.7398T>A (p.His2466Gln)
n.378-1757T>A
c.7470T>A (p.His2490Gln)
c.7395T>A (p.His2465Gln)
c.7095T>A (p.His2365Gln)
c.4359T>A (p.His1453Gln)
c.3252T>A (p.His1084Gln)
n.1830+5553A>T
c.7278T>A (p.His2426Gln)
c.3030T>A (p.His1010Gln)
c.6258T>A (p.His2086Gln)
8g.99776925T>CCA462449230VPS13Bc.7473T>C (p.His2491=)
n.7543T>C
c.*3155T>C (n.*3155T>C)
c.7398T>C (p.His2466=)
n.378-1757T>C
c.7470T>C (p.His2490=)
c.7395T>C (p.His2465=)
c.7095T>C (p.His2365=)
c.4359T>C (p.His1453=)
c.3252T>C (p.His1084=)
n.1830+5553A>G
c.7278T>C (p.His2426=)
c.3030T>C (p.His1010=)
c.6258T>C (p.His2086=)
8g.99776925T>GCA371875853VPS13Bc.7473T>G (p.His2491Gln)
n.7543T>G
c.*3155T>G (n.*3155T>G)
c.7398T>G (p.His2466Gln)
n.378-1757T>G
c.7470T>G (p.His2490Gln)
c.7395T>G (p.His2465Gln)
c.7095T>G (p.His2365Gln)
c.4359T>G (p.His1453Gln)
c.3252T>G (p.His1084Gln)
n.1830+5553A>C
c.7278T>G (p.His2426Gln)
c.3030T>G (p.His1010Gln)
c.6258T>G (p.His2086Gln)
8g.99776926C>ACA371875855VPS13Bc.7474C>A (p.Leu2492Ile)
n.7544C>A
c.*3156C>A (n.*3156C>A)
c.7399C>A (p.Leu2467Ile)
n.378-1756C>A
c.7471C>A (p.Leu2491Ile)
c.7396C>A (p.Leu2466Ile)
c.7096C>A (p.Leu2366Ile)
c.4360C>A (p.Leu1454Ile)
c.3253C>A (p.Leu1085Ile)
n.1830+5552G>T
c.7279C>A (p.Leu2427Ile)
c.3031C>A (p.Leu1011Ile)
c.6259C>A (p.Leu2087Ile)
 dbSNP
8g.99776926C>GCA371875856VPS13Bc.7474C>G (p.Leu2492Val)
n.7544C>G
c.*3156C>G (n.*3156C>G)
c.7399C>G (p.Leu2467Val)
n.378-1756C>G
c.7471C>G (p.Leu2491Val)
c.7396C>G (p.Leu2466Val)
c.7096C>G (p.Leu2366Val)
c.4360C>G (p.Leu1454Val)
c.3253C>G (p.Leu1085Val)
n.1830+5552G>C
c.7279C>G (p.Leu2427Val)
c.3031C>G (p.Leu1011Val)
c.6259C>G (p.Leu2087Val)
8g.99776926C>TCA371875854VPS13Bc.7474C>T (p.Leu2492Phe)
n.7544C>T
c.*3156C>T (n.*3156C>T)
c.7399C>T (p.Leu2467Phe)
n.378-1756C>T
c.7471C>T (p.Leu2491Phe)
c.7396C>T (p.Leu2466Phe)
c.7096C>T (p.Leu2366Phe)
c.4360C>T (p.Leu1454Phe)
c.3253C>T (p.Leu1085Phe)
n.1830+5552G>A
c.7279C>T (p.Leu2427Phe)
c.3031C>T (p.Leu1011Phe)
c.6259C>T (p.Leu2087Phe)
8g.99776927T>ACA371875858VPS13Bc.7475T>A (p.Leu2492His)
n.7545T>A
c.*3157T>A (n.*3157T>A)
c.7400T>A (p.Leu2467His)
n.378-1755T>A
c.7472T>A (p.Leu2491His)
c.7397T>A (p.Leu2466His)
c.7097T>A (p.Leu2366His)
c.4361T>A (p.Leu1454His)
c.3254T>A (p.Leu1085His)
n.1830+5551A>T
c.7280T>A (p.Leu2427His)
c.3032T>A (p.Leu1011His)
c.6260T>A (p.Leu2087His)
8g.99776927T>CCA371875857VPS13Bc.7475T>C (p.Leu2492Pro)
n.7545T>C
c.*3157T>C (n.*3157T>C)
c.7400T>C (p.Leu2467Pro)
n.378-1755T>C
c.7472T>C (p.Leu2491Pro)
c.7397T>C (p.Leu2466Pro)
c.7097T>C (p.Leu2366Pro)
c.4361T>C (p.Leu1454Pro)
c.3254T>C (p.Leu1085Pro)
n.1830+5551A>G
c.7280T>C (p.Leu2427Pro)
c.3032T>C (p.Leu1011Pro)
c.6260T>C (p.Leu2087Pro)
8g.99776927T>GCA371875859VPS13Bc.7475T>G (p.Leu2492Arg)
n.7545T>G
c.*3157T>G (n.*3157T>G)
c.7400T>G (p.Leu2467Arg)
n.378-1755T>G
c.7472T>G (p.Leu2491Arg)
c.7397T>G (p.Leu2466Arg)
c.7097T>G (p.Leu2366Arg)
c.4361T>G (p.Leu1454Arg)
c.3254T>G (p.Leu1085Arg)
n.1830+5551A>C
c.7280T>G (p.Leu2427Arg)
c.3032T>G (p.Leu1011Arg)
c.6260T>G (p.Leu2087Arg)

Number of alleles fetched