| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99868336del | CA16041275 | VPS13B | c.*432del (n.*432del) n.11408del c.*7020del (n.*7020del) c.11263del (p.Thr3755HisfsTer?) c.11338del (p.Thr3780HisfsTer?) n.280del c.11335del (p.Thr3779HisfsTer?) c.11260del (p.Thr3754HisfsTer?) c.10960del (p.Thr3654HisfsTer?) c.8224del (p.Thr2742HisfsTer?) c.7117del (p.Thr2373HisfsTer?) c.11143del (p.Thr3715HisfsTer?) c.6895del (p.Thr2299HisfsTer?) c.10123del (p.Thr3375HisfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99868336A>C | CA371791894 | VPS13B | c.*432A>C (n.*432A>C) n.11408A>C c.*7020A>C (n.*7020A>C) c.11263A>C (p.Thr3755Pro) c.11338A>C (p.Thr3780Pro) n.280A>C c.11335A>C (p.Thr3779Pro) c.11260A>C (p.Thr3754Pro) c.10960A>C (p.Thr3654Pro) c.8224A>C (p.Thr2742Pro) c.7117A>C (p.Thr2373Pro) c.11143A>C (p.Thr3715Pro) c.6895A>C (p.Thr2299Pro) c.10123A>C (p.Thr3375Pro) | |
| 8 | g.99868336A>G | CA371791896 | VPS13B | c.*432A>G (n.*432A>G) n.11408A>G c.*7020A>G (n.*7020A>G) c.11263A>G (p.Thr3755Ala) c.11338A>G (p.Thr3780Ala) n.280A>G c.11335A>G (p.Thr3779Ala) c.11260A>G (p.Thr3754Ala) c.10960A>G (p.Thr3654Ala) c.8224A>G (p.Thr2742Ala) c.7117A>G (p.Thr2373Ala) c.11143A>G (p.Thr3715Ala) c.6895A>G (p.Thr2299Ala) c.10123A>G (p.Thr3375Ala) | |
| 8 | g.99868336A>T | CA371791897 | VPS13B | c.*432A>T (n.*432A>T) n.11408A>T c.*7020A>T (n.*7020A>T) c.11263A>T (p.Thr3755Ser) c.11338A>T (p.Thr3780Ser) n.280A>T c.11335A>T (p.Thr3779Ser) c.11260A>T (p.Thr3754Ser) c.10960A>T (p.Thr3654Ser) c.8224A>T (p.Thr2742Ser) c.7117A>T (p.Thr2373Ser) c.11143A>T (p.Thr3715Ser) c.6895A>T (p.Thr2299Ser) c.10123A>T (p.Thr3375Ser) | |
| 8 | g.99868337C>A | CA371791899 | VPS13B | c.*433C>A (n.*433C>A) n.11409C>A c.*7021C>A (n.*7021C>A) c.11264C>A (p.Thr3755Lys) c.11339C>A (p.Thr3780Lys) n.281C>A c.11336C>A (p.Thr3779Lys) c.11261C>A (p.Thr3754Lys) c.10961C>A (p.Thr3654Lys) c.8225C>A (p.Thr2742Lys) c.7118C>A (p.Thr2373Lys) c.11144C>A (p.Thr3715Lys) c.6896C>A (p.Thr2299Lys) c.10124C>A (p.Thr3375Lys) | |
| 8 | g.99868337C>G | CA371791901 | VPS13B | c.*433C>G (n.*433C>G) n.11409C>G c.*7021C>G (n.*7021C>G) c.11264C>G (p.Thr3755Arg) c.11339C>G (p.Thr3780Arg) n.281C>G c.11336C>G (p.Thr3779Arg) c.11261C>G (p.Thr3754Arg) c.10961C>G (p.Thr3654Arg) c.8225C>G (p.Thr2742Arg) c.7118C>G (p.Thr2373Arg) c.11144C>G (p.Thr3715Arg) c.6896C>G (p.Thr2299Arg) c.10124C>G (p.Thr3375Arg) | |
| 8 | g.99868337C>T | CA371791902 | VPS13B | c.*433C>T (n.*433C>T) n.11409C>T c.*7021C>T (n.*7021C>T) c.11264C>T (p.Thr3755Ile) c.11339C>T (p.Thr3780Ile) n.281C>T c.11336C>T (p.Thr3779Ile) c.11261C>T (p.Thr3754Ile) c.10961C>T (p.Thr3654Ile) c.8225C>T (p.Thr2742Ile) c.7118C>T (p.Thr2373Ile) c.11144C>T (p.Thr3715Ile) c.6896C>T (p.Thr2299Ile) c.10124C>T (p.Thr3375Ile) | ClinVar |
| 8 | g.99868338A>C | CA462339181 | VPS13B | c.*434A>C (n.*434A>C) n.11410A>C c.*7022A>C (n.*7022A>C) c.11265A>C (p.Thr3755=) c.11340A>C (p.Thr3780=) n.282A>C c.11337A>C (p.Thr3779=) c.11262A>C (p.Thr3754=) c.10962A>C (p.Thr3654=) c.8226A>C (p.Thr2742=) c.7119A>C (p.Thr2373=) c.11145A>C (p.Thr3715=) c.6897A>C (p.Thr2299=) c.10125A>C (p.Thr3375=) | |
| 8 | g.99868338A>G | CA462339182 | VPS13B | c.*434A>G (n.*434A>G) n.11410A>G c.*7022A>G (n.*7022A>G) c.11265A>G (p.Thr3755=) c.11340A>G (p.Thr3780=) n.282A>G c.11337A>G (p.Thr3779=) c.11262A>G (p.Thr3754=) c.10962A>G (p.Thr3654=) c.8226A>G (p.Thr2742=) c.7119A>G (p.Thr2373=) c.11145A>G (p.Thr3715=) c.6897A>G (p.Thr2299=) c.10125A>G (p.Thr3375=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99868338A>T | CA462339183 | VPS13B | c.*434A>T (n.*434A>T) n.11410A>T c.*7022A>T (n.*7022A>T) c.11265A>T (p.Thr3755=) c.11340A>T (p.Thr3780=) n.282A>T c.11337A>T (p.Thr3779=) c.11262A>T (p.Thr3754=) c.10962A>T (p.Thr3654=) c.8226A>T (p.Thr2742=) c.7119A>T (p.Thr2373=) c.11145A>T (p.Thr3715=) c.6897A>T (p.Thr2299=) c.10125A>T (p.Thr3375=) | |
| 8 | g.99868339T>A | CA371791903 | VPS13B | c.*435T>A (n.*435T>A) n.11411T>A c.*7023T>A (n.*7023T>A) c.11266T>A (p.Ser3756Thr) c.11341T>A (p.Ser3781Thr) n.283T>A c.11338T>A (p.Ser3780Thr) c.11263T>A (p.Ser3755Thr) c.10963T>A (p.Ser3655Thr) c.8227T>A (p.Ser2743Thr) c.7120T>A (p.Ser2374Thr) c.11146T>A (p.Ser3716Thr) c.6898T>A (p.Ser2300Thr) c.10126T>A (p.Ser3376Thr) | |
| 8 | g.99868339T>C | CA4825195 | VPS13B | c.*435T>C (n.*435T>C) n.11411T>C c.*7023T>C (n.*7023T>C) c.11266T>C (p.Ser3756Pro) c.11341T>C (p.Ser3781Pro) n.283T>C c.11338T>C (p.Ser3780Pro) c.11263T>C (p.Ser3755Pro) c.10963T>C (p.Ser3655Pro) c.8227T>C (p.Ser2743Pro) c.7120T>C (p.Ser2374Pro) c.11146T>C (p.Ser3716Pro) c.6898T>C (p.Ser2300Pro) c.10126T>C (p.Ser3376Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99868339T>G | CA4825196 | VPS13B | c.*435T>G (n.*435T>G) n.11411T>G c.*7023T>G (n.*7023T>G) c.11266T>G (p.Ser3756Ala) c.11341T>G (p.Ser3781Ala) n.283T>G c.11338T>G (p.Ser3780Ala) c.11263T>G (p.Ser3755Ala) c.10963T>G (p.Ser3655Ala) c.8227T>G (p.Ser2743Ala) c.7120T>G (p.Ser2374Ala) c.11146T>G (p.Ser3716Ala) c.6898T>G (p.Ser2300Ala) c.10126T>G (p.Ser3376Ala) | dbSNP ExAC gnomAD v4 |
| 8 | g.99868340C>A | CA371791908 | VPS13B | c.*436C>A (n.*436C>A) n.11412C>A c.*7024C>A (n.*7024C>A) c.11267C>A (p.Ser3756Tyr) c.11342C>A (p.Ser3781Tyr) n.284C>A c.11339C>A (p.Ser3780Tyr) c.11264C>A (p.Ser3755Tyr) c.10964C>A (p.Ser3655Tyr) c.8228C>A (p.Ser2743Tyr) c.7121C>A (p.Ser2374Tyr) c.11147C>A (p.Ser3716Tyr) c.6899C>A (p.Ser2300Tyr) c.10127C>A (p.Ser3376Tyr) | |
| 8 | g.99868340C>G | CA371791910 | VPS13B | c.*436C>G (n.*436C>G) n.11412C>G c.*7024C>G (n.*7024C>G) c.11267C>G (p.Ser3756Cys) c.11342C>G (p.Ser3781Cys) n.284C>G c.11339C>G (p.Ser3780Cys) c.11264C>G (p.Ser3755Cys) c.10964C>G (p.Ser3655Cys) c.8228C>G (p.Ser2743Cys) c.7121C>G (p.Ser2374Cys) c.11147C>G (p.Ser3716Cys) c.6899C>G (p.Ser2300Cys) c.10127C>G (p.Ser3376Cys) | gnomAD v4 |
| 8 | g.99868340C>T | CA371791911 | VPS13B | c.*436C>T (n.*436C>T) n.11412C>T c.*7024C>T (n.*7024C>T) c.11267C>T (p.Ser3756Phe) c.11342C>T (p.Ser3781Phe) n.284C>T c.11339C>T (p.Ser3780Phe) c.11264C>T (p.Ser3755Phe) c.10964C>T (p.Ser3655Phe) c.8228C>T (p.Ser2743Phe) c.7121C>T (p.Ser2374Phe) c.11147C>T (p.Ser3716Phe) c.6899C>T (p.Ser2300Phe) c.10127C>T (p.Ser3376Phe) | |
| 8 | g.99868341T>A | CA462339190 | VPS13B | c.*437T>A (n.*437T>A) n.11413T>A c.*7025T>A (n.*7025T>A) c.11268T>A (p.Ser3756=) c.11343T>A (p.Ser3781=) n.285T>A c.11340T>A (p.Ser3780=) c.11265T>A (p.Ser3755=) c.10965T>A (p.Ser3655=) c.8229T>A (p.Ser2743=) c.7122T>A (p.Ser2374=) c.11148T>A (p.Ser3716=) c.6900T>A (p.Ser2300=) c.10128T>A (p.Ser3376=) | |
| 8 | g.99868341T>C | CA462339191 | VPS13B | c.*437T>C (n.*437T>C) n.11413T>C c.*7025T>C (n.*7025T>C) c.11268T>C (p.Ser3756=) c.11343T>C (p.Ser3781=) n.285T>C c.11340T>C (p.Ser3780=) c.11265T>C (p.Ser3755=) c.10965T>C (p.Ser3655=) c.8229T>C (p.Ser2743=) c.7122T>C (p.Ser2374=) c.11148T>C (p.Ser3716=) c.6900T>C (p.Ser2300=) c.10128T>C (p.Ser3376=) | dbSNP gnomAD v4 |
| 8 | g.99868341T>G | CA462339188 | VPS13B | c.*437T>G (n.*437T>G) n.11413T>G c.*7025T>G (n.*7025T>G) c.11268T>G (p.Ser3756=) c.11343T>G (p.Ser3781=) n.285T>G c.11340T>G (p.Ser3780=) c.11265T>G (p.Ser3755=) c.10965T>G (p.Ser3655=) c.8229T>G (p.Ser2743=) c.7122T>G (p.Ser2374=) c.11148T>G (p.Ser3716=) c.6900T>G (p.Ser2300=) c.10128T>G (p.Ser3376=) | |
| 8 | g.99868342G>A | CA371791916 | VPS13B | c.*438G>A (n.*438G>A) n.11414G>A c.*7026G>A (n.*7026G>A) c.11269G>A (p.Glu3757Lys) c.11344G>A (p.Glu3782Lys) n.286G>A c.11341G>A (p.Glu3781Lys) c.11266G>A (p.Glu3756Lys) c.10966G>A (p.Glu3656Lys) c.8230G>A (p.Glu2744Lys) c.7123G>A (p.Glu2375Lys) c.11149G>A (p.Glu3717Lys) c.6901G>A (p.Glu2301Lys) c.10129G>A (p.Glu3377Lys) | |
| 8 | g.99868342G>C | CA371791918 | VPS13B | c.*438G>C (n.*438G>C) n.11414G>C c.*7026G>C (n.*7026G>C) c.11269G>C (p.Glu3757Gln) c.11344G>C (p.Glu3782Gln) n.286G>C c.11341G>C (p.Glu3781Gln) c.11266G>C (p.Glu3756Gln) c.10966G>C (p.Glu3656Gln) c.8230G>C (p.Glu2744Gln) c.7123G>C (p.Glu2375Gln) c.11149G>C (p.Glu3717Gln) c.6901G>C (p.Glu2301Gln) c.10129G>C (p.Glu3377Gln) | |
| 8 | g.99868342G>T | CA371791914 | VPS13B | c.*438G>T (n.*438G>T) n.11414G>T c.*7026G>T (n.*7026G>T) c.11269G>T (p.Glu3757Ter) c.11344G>T (p.Glu3782Ter) n.286G>T c.11341G>T (p.Glu3781Ter) c.11266G>T (p.Glu3756Ter) c.10966G>T (p.Glu3656Ter) c.8230G>T (p.Glu2744Ter) c.7123G>T (p.Glu2375Ter) c.11149G>T (p.Glu3717Ter) c.6901G>T (p.Glu2301Ter) c.10129G>T (p.Glu3377Ter) | |
| 8 | g.99868343A>C | CA371791924 | VPS13B | c.*439A>C (n.*439A>C) n.11415A>C c.*7027A>C (n.*7027A>C) c.11270A>C (p.Glu3757Ala) c.11345A>C (p.Glu3782Ala) n.287A>C c.11342A>C (p.Glu3781Ala) c.11267A>C (p.Glu3756Ala) c.10967A>C (p.Glu3656Ala) c.8231A>C (p.Glu2744Ala) c.7124A>C (p.Glu2375Ala) c.11150A>C (p.Glu3717Ala) c.6902A>C (p.Glu2301Ala) c.10130A>C (p.Glu3377Ala) | |
| 8 | g.99868343A>G | CA371791920 | VPS13B | c.*439A>G (n.*439A>G) n.11415A>G c.*7027A>G (n.*7027A>G) c.11270A>G (p.Glu3757Gly) c.11345A>G (p.Glu3782Gly) n.287A>G c.11342A>G (p.Glu3781Gly) c.11267A>G (p.Glu3756Gly) c.10967A>G (p.Glu3656Gly) c.8231A>G (p.Glu2744Gly) c.7124A>G (p.Glu2375Gly) c.11150A>G (p.Glu3717Gly) c.6902A>G (p.Glu2301Gly) c.10130A>G (p.Glu3377Gly) | |
| 8 | g.99868343A>T | CA371791922 | VPS13B | c.*439A>T (n.*439A>T) n.11415A>T c.*7027A>T (n.*7027A>T) c.11270A>T (p.Glu3757Val) c.11345A>T (p.Glu3782Val) n.287A>T c.11342A>T (p.Glu3781Val) c.11267A>T (p.Glu3756Val) c.10967A>T (p.Glu3656Val) c.8231A>T (p.Glu2744Val) c.7124A>T (p.Glu2375Val) c.11150A>T (p.Glu3717Val) c.6902A>T (p.Glu2301Val) c.10130A>T (p.Glu3377Val) | |
| 8 | g.99868344G>A | CA462339197 | VPS13B | c.*440G>A (n.*440G>A) n.11416G>A c.*7028G>A (n.*7028G>A) c.11271G>A (p.Glu3757=) c.11346G>A (p.Glu3782=) n.288G>A c.11343G>A (p.Glu3781=) c.11268G>A (p.Glu3756=) c.10968G>A (p.Glu3656=) c.8232G>A (p.Glu2744=) c.7125G>A (p.Glu2375=) c.11151G>A (p.Glu3717=) c.6903G>A (p.Glu2301=) c.10131G>A (p.Glu3377=) | |
| 8 | g.99868344G>C | CA371791926 | VPS13B | c.*440G>C (n.*440G>C) n.11416G>C c.*7028G>C (n.*7028G>C) c.11271G>C (p.Glu3757Asp) c.11346G>C (p.Glu3782Asp) n.288G>C c.11343G>C (p.Glu3781Asp) c.11268G>C (p.Glu3756Asp) c.10968G>C (p.Glu3656Asp) c.8232G>C (p.Glu2744Asp) c.7125G>C (p.Glu2375Asp) c.11151G>C (p.Glu3717Asp) c.6903G>C (p.Glu2301Asp) c.10131G>C (p.Glu3377Asp) | |
| 8 | g.99868344G>T | CA371791928 | VPS13B | c.*440G>T (n.*440G>T) n.11416G>T c.*7028G>T (n.*7028G>T) c.11271G>T (p.Glu3757Asp) c.11346G>T (p.Glu3782Asp) n.288G>T c.11343G>T (p.Glu3781Asp) c.11268G>T (p.Glu3756Asp) c.10968G>T (p.Glu3656Asp) c.8232G>T (p.Glu2744Asp) c.7125G>T (p.Glu2375Asp) c.11151G>T (p.Glu3717Asp) c.6903G>T (p.Glu2301Asp) c.10131G>T (p.Glu3377Asp) | |
| 8 | g.99868345del | CA4825197 | VPS13B | c.*441del (n.*441del) n.11417del c.*7029del (n.*7029del) c.11272del (p.Ala3758HisfsTer?) c.11347del (p.Ala3783HisfsTer?) n.289del c.11344del (p.Ala3782HisfsTer?) c.11269del (p.Ala3757HisfsTer?) c.10969del (p.Ala3657HisfsTer?) c.8233del (p.Ala2745HisfsTer?) c.7126del (p.Ala2376HisfsTer?) c.11152del (p.Ala3718HisfsTer?) c.6904del (p.Ala2302HisfsTer?) c.10132del (p.Ala3378HisfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99868345G>A | CA4825198 | VPS13B | c.*441G>A (n.*441G>A) n.11417G>A c.*7029G>A (n.*7029G>A) c.11272G>A (p.Ala3758Thr) c.11347G>A (p.Ala3783Thr) n.289G>A c.11344G>A (p.Ala3782Thr) c.11269G>A (p.Ala3757Thr) c.10969G>A (p.Ala3657Thr) c.8233G>A (p.Ala2745Thr) c.7126G>A (p.Ala2376Thr) c.11152G>A (p.Ala3718Thr) c.6904G>A (p.Ala2302Thr) c.10132G>A (p.Ala3378Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99868345G>C | CA371791931 | VPS13B | c.*441G>C (n.*441G>C) n.11417G>C c.*7029G>C (n.*7029G>C) c.11272G>C (p.Ala3758Pro) c.11347G>C (p.Ala3783Pro) n.289G>C c.11344G>C (p.Ala3782Pro) c.11269G>C (p.Ala3757Pro) c.10969G>C (p.Ala3657Pro) c.8233G>C (p.Ala2745Pro) c.7126G>C (p.Ala2376Pro) c.11152G>C (p.Ala3718Pro) c.6904G>C (p.Ala2302Pro) c.10132G>C (p.Ala3378Pro) | |
| 8 | g.99868345G>T | CA371791933 | VPS13B | c.*441G>T (n.*441G>T) n.11417G>T c.*7029G>T (n.*7029G>T) c.11272G>T (p.Ala3758Ser) c.11347G>T (p.Ala3783Ser) n.289G>T c.11344G>T (p.Ala3782Ser) c.11269G>T (p.Ala3757Ser) c.10969G>T (p.Ala3657Ser) c.8233G>T (p.Ala2745Ser) c.7126G>T (p.Ala2376Ser) c.11152G>T (p.Ala3718Ser) c.6904G>T (p.Ala2302Ser) c.10132G>T (p.Ala3378Ser) | |
| 8 | g.99868346C>A | CA371791935 | VPS13B | c.*442C>A (n.*442C>A) n.11418C>A c.*7030C>A (n.*7030C>A) c.11273C>A (p.Ala3758Glu) c.11348C>A (p.Ala3783Glu) n.290C>A c.11345C>A (p.Ala3782Glu) c.11270C>A (p.Ala3757Glu) c.10970C>A (p.Ala3657Glu) c.8234C>A (p.Ala2745Glu) c.7127C>A (p.Ala2376Glu) c.11153C>A (p.Ala3718Glu) c.6905C>A (p.Ala2302Glu) c.10133C>A (p.Ala3378Glu) | gnomAD v4 |
| 8 | g.99868346C>G | CA371791936 | VPS13B | c.*442C>G (n.*442C>G) n.11418C>G c.*7030C>G (n.*7030C>G) c.11273C>G (p.Ala3758Gly) c.11348C>G (p.Ala3783Gly) n.290C>G c.11345C>G (p.Ala3782Gly) c.11270C>G (p.Ala3757Gly) c.10970C>G (p.Ala3657Gly) c.8234C>G (p.Ala2745Gly) c.7127C>G (p.Ala2376Gly) c.11153C>G (p.Ala3718Gly) c.6905C>G (p.Ala2302Gly) c.10133C>G (p.Ala3378Gly) | |
| 8 | g.99868346C>T | CA4825199 | VPS13B | c.*442C>T (n.*442C>T) n.11418C>T c.*7030C>T (n.*7030C>T) c.11273C>T (p.Ala3758Val) c.11348C>T (p.Ala3783Val) n.290C>T c.11345C>T (p.Ala3782Val) c.11270C>T (p.Ala3757Val) c.10970C>T (p.Ala3657Val) c.8234C>T (p.Ala2745Val) c.7127C>T (p.Ala2376Val) c.11153C>T (p.Ala3718Val) c.6905C>T (p.Ala2302Val) c.10133C>T (p.Ala3378Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99868348_99868349del | CA2688072712 | VPS13B | c.*444_*445del (n.*444_*445del) n.11420_11421del c.*7032_*7033del (n.*7032_*7033del) c.11275_11276del (p.Gln3759GlyfsTer?) c.11350_11351del (p.Gln3784GlyfsTer?) n.292_293del c.11347_11348del (p.Gln3783GlyfsTer?) c.11272_11273del (p.Gln3758GlyfsTer?) c.10972_10973del (p.Gln3658GlyfsTer?) c.8236_8237del (p.Gln2746GlyfsTer?) c.7129_7130del (p.Gln2377GlyfsTer?) c.11155_11156del (p.Gln3719GlyfsTer?) c.6907_6908del (p.Gln2303GlyfsTer?) c.10135_10136del (p.Gln3379GlyfsTer?) | gnomAD v4 |
| 8 | g.99868346_99868347insTTCCAGAAA | CA4825200 | VPS13B | c.*442_*443insTTCCAGAAA (n.*442_*443insTTCCAGAAA) n.11418_11419insTTCCAGAAA c.*7030_*7031insTTCCAGAAA (n.*7030_*7031insTTCCAGAAA) c.11273_11274insTTCCAGAAA (p.Ala3758_Gln3759insSerArgLys) c.11348_11349insTTCCAGAAA (p.Ala3783_Gln3784insSerArgLys) n.290_291insTTCCAGAAA c.11345_11346insTTCCAGAAA (p.Ala3782_Gln3783insSerArgLys) c.11270_11271insTTCCAGAAA (p.Ala3757_Gln3758insSerArgLys) c.10970_10971insTTCCAGAAA (p.Ala3657_Gln3658insSerArgLys) c.8234_8235insTTCCAGAAA (p.Ala2745_Gln2746insSerArgLys) c.7127_7128insTTCCAGAAA (p.Ala2376_Gln2377insSerArgLys) c.11153_11154insTTCCAGAAA (p.Ala3718_Gln3719insSerArgLys) c.6905_6906insTTCCAGAAA (p.Ala2302_Gln2303insSerArgLys) c.10133_10134insTTCCAGAAA (p.Ala3378_Gln3379insSerArgLys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99868347A>C | CA462339206 | VPS13B | c.*443A>C (n.*443A>C) n.11419A>C c.*7031A>C (n.*7031A>C) c.11274A>C (p.Ala3758=) c.11349A>C (p.Ala3783=) n.291A>C c.11346A>C (p.Ala3782=) c.11271A>C (p.Ala3757=) c.10971A>C (p.Ala3657=) c.8235A>C (p.Ala2745=) c.7128A>C (p.Ala2376=) c.11154A>C (p.Ala3718=) c.6906A>C (p.Ala2302=) c.10134A>C (p.Ala3378=) | |
| 8 | g.99868347A>G | CA4825201 | VPS13B | c.*443A>G (n.*443A>G) n.11419A>G c.*7031A>G (n.*7031A>G) c.11274A>G (p.Ala3758=) c.11349A>G (p.Ala3783=) n.291A>G c.11346A>G (p.Ala3782=) c.11271A>G (p.Ala3757=) c.10971A>G (p.Ala3657=) c.8235A>G (p.Ala2745=) c.7128A>G (p.Ala2376=) c.11154A>G (p.Ala3718=) c.6906A>G (p.Ala2302=) c.10134A>G (p.Ala3378=) | dbSNP ExAC gnomAD v2 |
| 8 | g.99868347A>T | CA462339207 | VPS13B | c.*443A>T (n.*443A>T) n.11419A>T c.*7031A>T (n.*7031A>T) c.11274A>T (p.Ala3758=) c.11349A>T (p.Ala3783=) n.291A>T c.11346A>T (p.Ala3782=) c.11271A>T (p.Ala3757=) c.10971A>T (p.Ala3657=) c.8235A>T (p.Ala2745=) c.7128A>T (p.Ala2376=) c.11154A>T (p.Ala3718=) c.6906A>T (p.Ala2302=) c.10134A>T (p.Ala3378=) | dbSNP |
| 8 | g.99868348C>A | CA371791944 | VPS13B | c.*444C>A (n.*444C>A) n.11420C>A c.*7032C>A (n.*7032C>A) c.11275C>A (p.Gln3759Lys) c.11350C>A (p.Gln3784Lys) n.292C>A c.11347C>A (p.Gln3783Lys) c.11272C>A (p.Gln3758Lys) c.10972C>A (p.Gln3658Lys) c.8236C>A (p.Gln2746Lys) c.7129C>A (p.Gln2377Lys) c.11155C>A (p.Gln3719Lys) c.6907C>A (p.Gln2303Lys) c.10135C>A (p.Gln3379Lys) | |
| 8 | g.99868348C>G | CA208365 | VPS13B | c.*444C>G (n.*444C>G) n.11420C>G c.*7032C>G (n.*7032C>G) c.11275C>G (p.Gln3759Glu) c.11350C>G (p.Gln3784Glu) n.292C>G c.11347C>G (p.Gln3783Glu) c.11272C>G (p.Gln3758Glu) c.10972C>G (p.Gln3658Glu) c.8236C>G (p.Gln2746Glu) c.7129C>G (p.Gln2377Glu) c.11155C>G (p.Gln3719Glu) c.6907C>G (p.Gln2303Glu) c.10135C>G (p.Gln3379Glu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99868348C>T | CA371791942 | VPS13B | c.*444C>T (n.*444C>T) n.11420C>T c.*7032C>T (n.*7032C>T) c.11275C>T (p.Gln3759Ter) c.11350C>T (p.Gln3784Ter) n.292C>T c.11347C>T (p.Gln3783Ter) c.11272C>T (p.Gln3758Ter) c.10972C>T (p.Gln3658Ter) c.8236C>T (p.Gln2746Ter) c.7129C>T (p.Gln2377Ter) c.11155C>T (p.Gln3719Ter) c.6907C>T (p.Gln2303Ter) c.10135C>T (p.Gln3379Ter) | ClinVar |
| 8 | g.99868349A>C | CA371791947 | VPS13B | c.*445A>C (n.*445A>C) n.11421A>C c.*7033A>C (n.*7033A>C) c.11276A>C (p.Gln3759Pro) c.11351A>C (p.Gln3784Pro) n.293A>C c.11348A>C (p.Gln3783Pro) c.11273A>C (p.Gln3758Pro) c.10973A>C (p.Gln3658Pro) c.8237A>C (p.Gln2746Pro) c.7130A>C (p.Gln2377Pro) c.11156A>C (p.Gln3719Pro) c.6908A>C (p.Gln2303Pro) c.10136A>C (p.Gln3379Pro) | |
| 8 | g.99868349A>G | CA371791948 | VPS13B | c.*445A>G (n.*445A>G) n.11421A>G c.*7033A>G (n.*7033A>G) c.11276A>G (p.Gln3759Arg) c.11351A>G (p.Gln3784Arg) n.293A>G c.11348A>G (p.Gln3783Arg) c.11273A>G (p.Gln3758Arg) c.10973A>G (p.Gln3658Arg) c.8237A>G (p.Gln2746Arg) c.7130A>G (p.Gln2377Arg) c.11156A>G (p.Gln3719Arg) c.6908A>G (p.Gln2303Arg) c.10136A>G (p.Gln3379Arg) | |
| 8 | g.99868349A>T | CA371791950 | VPS13B | c.*445A>T (n.*445A>T) n.11421A>T c.*7033A>T (n.*7033A>T) c.11276A>T (p.Gln3759Leu) c.11351A>T (p.Gln3784Leu) n.293A>T c.11348A>T (p.Gln3783Leu) c.11273A>T (p.Gln3758Leu) c.10973A>T (p.Gln3658Leu) c.8237A>T (p.Gln2746Leu) c.7130A>T (p.Gln2377Leu) c.11156A>T (p.Gln3719Leu) c.6908A>T (p.Gln2303Leu) c.10136A>T (p.Gln3379Leu) | |
| 8 | g.99868350G>A | CA462339214 | VPS13B | c.*446G>A (n.*446G>A) n.11422G>A c.*7034G>A (n.*7034G>A) c.11277G>A (p.Gln3759=) c.11352G>A (p.Gln3784=) n.294G>A c.11349G>A (p.Gln3783=) c.11274G>A (p.Gln3758=) c.10974G>A (p.Gln3658=) c.8238G>A (p.Gln2746=) c.7131G>A (p.Gln2377=) c.11157G>A (p.Gln3719=) c.6909G>A (p.Gln2303=) c.10137G>A (p.Gln3379=) | |
| 8 | g.99868350G>C | CA371791952 | VPS13B | c.*446G>C (n.*446G>C) n.11422G>C c.*7034G>C (n.*7034G>C) c.11277G>C (p.Gln3759His) c.11352G>C (p.Gln3784His) n.294G>C c.11349G>C (p.Gln3783His) c.11274G>C (p.Gln3758His) c.10974G>C (p.Gln3658His) c.8238G>C (p.Gln2746His) c.7131G>C (p.Gln2377His) c.11157G>C (p.Gln3719His) c.6909G>C (p.Gln2303His) c.10137G>C (p.Gln3379His) | |
| 8 | g.99868350G>T | CA371791954 | VPS13B | c.*446G>T (n.*446G>T) n.11422G>T c.*7034G>T (n.*7034G>T) c.11277G>T (p.Gln3759His) c.11352G>T (p.Gln3784His) n.294G>T c.11349G>T (p.Gln3783His) c.11274G>T (p.Gln3758His) c.10974G>T (p.Gln3658His) c.8238G>T (p.Gln2746His) c.7131G>T (p.Gln2377His) c.11157G>T (p.Gln3719His) c.6909G>T (p.Gln2303His) c.10137G>T (p.Gln3379His) | dbSNP |
| 8 | g.99868351G>A | CA371791955 | VPS13B | c.*447G>A (n.*447G>A) n.11423G>A c.*7035G>A (n.*7035G>A) c.11278G>A (p.Ala3760Thr) c.11353G>A (p.Ala3785Thr) n.295G>A c.11350G>A (p.Ala3784Thr) c.11275G>A (p.Ala3759Thr) c.10975G>A (p.Ala3659Thr) c.8239G>A (p.Ala2747Thr) c.7132G>A (p.Ala2378Thr) c.11158G>A (p.Ala3720Thr) c.6910G>A (p.Ala2304Thr) c.10138G>A (p.Ala3380Thr) |