| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99861793A>C | CA371790242 | VPS13B | c.*231A>C (n.*231A>C) n.11207A>C c.*6819A>C (n.*6819A>C) c.11062A>C (p.Thr3688Pro) c.11137A>C (p.Thr3713Pro) c.11134A>C (p.Thr3712Pro) c.11059A>C (p.Thr3687Pro) c.10759A>C (p.Thr3587Pro) c.8023A>C (p.Thr2675Pro) c.6916A>C (p.Thr2306Pro) c.10942A>C (p.Thr3648Pro) c.6694A>C (p.Thr2232Pro) c.9922A>C (p.Thr3308Pro) | dbSNP |
| 8 | g.99861793A>G | CA371790238 | VPS13B | c.*231A>G (n.*231A>G) n.11207A>G c.*6819A>G (n.*6819A>G) c.11062A>G (p.Thr3688Ala) c.11137A>G (p.Thr3713Ala) c.11134A>G (p.Thr3712Ala) c.11059A>G (p.Thr3687Ala) c.10759A>G (p.Thr3587Ala) c.8023A>G (p.Thr2675Ala) c.6916A>G (p.Thr2306Ala) c.10942A>G (p.Thr3648Ala) c.6694A>G (p.Thr2232Ala) c.9922A>G (p.Thr3308Ala) | |
| 8 | g.99861793A>T | CA371790240 | VPS13B | c.*231A>T (n.*231A>T) n.11207A>T c.*6819A>T (n.*6819A>T) c.11062A>T (p.Thr3688Ser) c.11137A>T (p.Thr3713Ser) c.11134A>T (p.Thr3712Ser) c.11059A>T (p.Thr3687Ser) c.10759A>T (p.Thr3587Ser) c.8023A>T (p.Thr2675Ser) c.6916A>T (p.Thr2306Ser) c.10942A>T (p.Thr3648Ser) c.6694A>T (p.Thr2232Ser) c.9922A>T (p.Thr3308Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99861794C>A | CA371790244 | VPS13B | c.*232C>A (n.*232C>A) n.11208C>A c.*6820C>A (n.*6820C>A) c.11063C>A (p.Thr3688Asn) c.11138C>A (p.Thr3713Asn) c.11135C>A (p.Thr3712Asn) c.11060C>A (p.Thr3687Asn) c.10760C>A (p.Thr3587Asn) c.8024C>A (p.Thr2675Asn) c.6917C>A (p.Thr2306Asn) c.10943C>A (p.Thr3648Asn) c.6695C>A (p.Thr2232Asn) c.9923C>A (p.Thr3308Asn) | |
| 8 | g.99861794C>G | CA371790246 | VPS13B | c.*232C>G (n.*232C>G) n.11208C>G c.*6820C>G (n.*6820C>G) c.11063C>G (p.Thr3688Ser) c.11138C>G (p.Thr3713Ser) c.11135C>G (p.Thr3712Ser) c.11060C>G (p.Thr3687Ser) c.10760C>G (p.Thr3587Ser) c.8024C>G (p.Thr2675Ser) c.6917C>G (p.Thr2306Ser) c.10943C>G (p.Thr3648Ser) c.6695C>G (p.Thr2232Ser) c.9923C>G (p.Thr3308Ser) | |
| 8 | g.99861794C>T | CA371790247 | VPS13B | c.*232C>T (n.*232C>T) n.11208C>T c.*6820C>T (n.*6820C>T) c.11063C>T (p.Thr3688Ile) c.11138C>T (p.Thr3713Ile) c.11135C>T (p.Thr3712Ile) c.11060C>T (p.Thr3687Ile) c.10760C>T (p.Thr3587Ile) c.8024C>T (p.Thr2675Ile) c.6917C>T (p.Thr2306Ile) c.10943C>T (p.Thr3648Ile) c.6695C>T (p.Thr2232Ile) c.9923C>T (p.Thr3308Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861795C>A | CA462338037 | VPS13B | c.*233C>A (n.*233C>A) n.11209C>A c.*6821C>A (n.*6821C>A) c.11064C>A (p.Thr3688=) c.11139C>A (p.Thr3713=) c.11136C>A (p.Thr3712=) c.11061C>A (p.Thr3687=) c.10761C>A (p.Thr3587=) c.8025C>A (p.Thr2675=) c.6918C>A (p.Thr2306=) c.10944C>A (p.Thr3648=) c.6696C>A (p.Thr2232=) c.9924C>A (p.Thr3308=) | gnomAD v4 |
| 8 | g.99861795C>G | CA462338038 | VPS13B | c.*233C>G (n.*233C>G) n.11209C>G c.*6821C>G (n.*6821C>G) c.11064C>G (p.Thr3688=) c.11139C>G (p.Thr3713=) c.11136C>G (p.Thr3712=) c.11061C>G (p.Thr3687=) c.10761C>G (p.Thr3587=) c.8025C>G (p.Thr2675=) c.6918C>G (p.Thr2306=) c.10944C>G (p.Thr3648=) c.6696C>G (p.Thr2232=) c.9924C>G (p.Thr3308=) | |
| 8 | g.99861795C>T | CA4825134 | VPS13B | c.*233C>T (n.*233C>T) n.11209C>T c.*6821C>T (n.*6821C>T) c.11064C>T (p.Thr3688=) c.11139C>T (p.Thr3713=) c.11136C>T (p.Thr3712=) c.11061C>T (p.Thr3687=) c.10761C>T (p.Thr3587=) c.8025C>T (p.Thr2675=) c.6918C>T (p.Thr2306=) c.10944C>T (p.Thr3648=) c.6696C>T (p.Thr2232=) c.9924C>T (p.Thr3308=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99861796A>C | CA371790251 | VPS13B | c.*234A>C (n.*234A>C) n.11210A>C c.*6822A>C (n.*6822A>C) c.11065A>C (p.Asn3689His) c.11140A>C (p.Asn3714His) c.11137A>C (p.Asn3713His) c.11062A>C (p.Asn3688His) c.10762A>C (p.Asn3588His) c.8026A>C (p.Asn2676His) c.6919A>C (p.Asn2307His) c.10945A>C (p.Asn3649His) c.6697A>C (p.Asn2233His) c.9925A>C (p.Asn3309His) | |
| 8 | g.99861796A>G | CA371790252 | VPS13B | c.*234A>G (n.*234A>G) n.11210A>G c.*6822A>G (n.*6822A>G) c.11065A>G (p.Asn3689Asp) c.11140A>G (p.Asn3714Asp) c.11137A>G (p.Asn3713Asp) c.11062A>G (p.Asn3688Asp) c.10762A>G (p.Asn3588Asp) c.8026A>G (p.Asn2676Asp) c.6919A>G (p.Asn2307Asp) c.10945A>G (p.Asn3649Asp) c.6697A>G (p.Asn2233Asp) c.9925A>G (p.Asn3309Asp) | |
| 8 | g.99861796A>T | CA371790254 | VPS13B | c.*234A>T (n.*234A>T) n.11210A>T c.*6822A>T (n.*6822A>T) c.11065A>T (p.Asn3689Tyr) c.11140A>T (p.Asn3714Tyr) c.11137A>T (p.Asn3713Tyr) c.11062A>T (p.Asn3688Tyr) c.10762A>T (p.Asn3588Tyr) c.8026A>T (p.Asn2676Tyr) c.6919A>T (p.Asn2307Tyr) c.10945A>T (p.Asn3649Tyr) c.6697A>T (p.Asn2233Tyr) c.9925A>T (p.Asn3309Tyr) | |
| 8 | g.99861797A>C | CA371790256 | VPS13B | c.*235A>C (n.*235A>C) n.11211A>C c.*6823A>C (n.*6823A>C) c.11066A>C (p.Asn3689Thr) c.11141A>C (p.Asn3714Thr) c.11138A>C (p.Asn3713Thr) c.11063A>C (p.Asn3688Thr) c.10763A>C (p.Asn3588Thr) c.8027A>C (p.Asn2676Thr) c.6920A>C (p.Asn2307Thr) c.10946A>C (p.Asn3649Thr) c.6698A>C (p.Asn2233Thr) c.9926A>C (p.Asn3309Thr) | |
| 8 | g.99861797A>G | CA371790258 | VPS13B | c.*235A>G (n.*235A>G) n.11211A>G c.*6823A>G (n.*6823A>G) c.11066A>G (p.Asn3689Ser) c.11141A>G (p.Asn3714Ser) c.11138A>G (p.Asn3713Ser) c.11063A>G (p.Asn3688Ser) c.10763A>G (p.Asn3588Ser) c.8027A>G (p.Asn2676Ser) c.6920A>G (p.Asn2307Ser) c.10946A>G (p.Asn3649Ser) c.6698A>G (p.Asn2233Ser) c.9926A>G (p.Asn3309Ser) | |
| 8 | g.99861797A>T | CA371790260 | VPS13B | c.*235A>T (n.*235A>T) n.11211A>T c.*6823A>T (n.*6823A>T) c.11066A>T (p.Asn3689Ile) c.11141A>T (p.Asn3714Ile) c.11138A>T (p.Asn3713Ile) c.11063A>T (p.Asn3688Ile) c.10763A>T (p.Asn3588Ile) c.8027A>T (p.Asn2676Ile) c.6920A>T (p.Asn2307Ile) c.10946A>T (p.Asn3649Ile) c.6698A>T (p.Asn2233Ile) c.9926A>T (p.Asn3309Ile) | |
| 8 | g.99861798C>A | CA371790262 | VPS13B | c.*236C>A (n.*236C>A) n.11212C>A c.*6824C>A (n.*6824C>A) c.11067C>A (p.Asn3689Lys) c.11142C>A (p.Asn3714Lys) c.11139C>A (p.Asn3713Lys) c.11064C>A (p.Asn3688Lys) c.10764C>A (p.Asn3588Lys) c.8028C>A (p.Asn2676Lys) c.6921C>A (p.Asn2307Lys) c.10947C>A (p.Asn3649Lys) c.6699C>A (p.Asn2233Lys) c.9927C>A (p.Asn3309Lys) | |
| 8 | g.99861798C>G | CA371790264 | VPS13B | c.*236C>G (n.*236C>G) n.11212C>G c.*6824C>G (n.*6824C>G) c.11067C>G (p.Asn3689Lys) c.11142C>G (p.Asn3714Lys) c.11139C>G (p.Asn3713Lys) c.11064C>G (p.Asn3688Lys) c.10764C>G (p.Asn3588Lys) c.8028C>G (p.Asn2676Lys) c.6921C>G (p.Asn2307Lys) c.10947C>G (p.Asn3649Lys) c.6699C>G (p.Asn2233Lys) c.9927C>G (p.Asn3309Lys) | |
| 8 | g.99861798C>T | CA462338039 | VPS13B | c.*236C>T (n.*236C>T) n.11212C>T c.*6824C>T (n.*6824C>T) c.11067C>T (p.Asn3689=) c.11142C>T (p.Asn3714=) c.11139C>T (p.Asn3713=) c.11064C>T (p.Asn3688=) c.10764C>T (p.Asn3588=) c.8028C>T (p.Asn2676=) c.6921C>T (p.Asn2307=) c.10947C>T (p.Asn3649=) c.6699C>T (p.Asn2233=) c.9927C>T (p.Asn3309=) | |
| 8 | g.99861799C>A | CA4825135 | VPS13B | c.*237C>A (n.*237C>A) n.11213C>A c.*6825C>A (n.*6825C>A) c.11068C>A (p.Leu3690Ile) c.11143C>A (p.Leu3715Ile) c.11140C>A (p.Leu3714Ile) c.11065C>A (p.Leu3689Ile) c.10765C>A (p.Leu3589Ile) c.8029C>A (p.Leu2677Ile) c.6922C>A (p.Leu2308Ile) c.10948C>A (p.Leu3650Ile) c.6700C>A (p.Leu2234Ile) c.9928C>A (p.Leu3310Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99861799C>G | CA371790269 | VPS13B | c.*237C>G (n.*237C>G) n.11213C>G c.*6825C>G (n.*6825C>G) c.11068C>G (p.Leu3690Val) c.11143C>G (p.Leu3715Val) c.11140C>G (p.Leu3714Val) c.11065C>G (p.Leu3689Val) c.10765C>G (p.Leu3589Val) c.8029C>G (p.Leu2677Val) c.6922C>G (p.Leu2308Val) c.10948C>G (p.Leu3650Val) c.6700C>G (p.Leu2234Val) c.9928C>G (p.Leu3310Val) | |
| 8 | g.99861799C>T | CA371790266 | VPS13B | c.*237C>T (n.*237C>T) n.11213C>T c.*6825C>T (n.*6825C>T) c.11068C>T (p.Leu3690Phe) c.11143C>T (p.Leu3715Phe) c.11140C>T (p.Leu3714Phe) c.11065C>T (p.Leu3689Phe) c.10765C>T (p.Leu3589Phe) c.8029C>T (p.Leu2677Phe) c.6922C>T (p.Leu2308Phe) c.10948C>T (p.Leu3650Phe) c.6700C>T (p.Leu2234Phe) c.9928C>T (p.Leu3310Phe) | |
| 8 | g.99861800T>A | CA371790271 | VPS13B | c.*238T>A (n.*238T>A) n.11214T>A c.*6826T>A (n.*6826T>A) c.11069T>A (p.Leu3690His) c.11144T>A (p.Leu3715His) c.11141T>A (p.Leu3714His) c.11066T>A (p.Leu3689His) c.10766T>A (p.Leu3589His) c.8030T>A (p.Leu2677His) c.6923T>A (p.Leu2308His) c.10949T>A (p.Leu3650His) c.6701T>A (p.Leu2234His) c.9929T>A (p.Leu3310His) | |
| 8 | g.99861800T>C | CA371790272 | VPS13B | c.*238T>C (n.*238T>C) n.11214T>C c.*6826T>C (n.*6826T>C) c.11069T>C (p.Leu3690Pro) c.11144T>C (p.Leu3715Pro) c.11141T>C (p.Leu3714Pro) c.11066T>C (p.Leu3689Pro) c.10766T>C (p.Leu3589Pro) c.8030T>C (p.Leu2677Pro) c.6923T>C (p.Leu2308Pro) c.10949T>C (p.Leu3650Pro) c.6701T>C (p.Leu2234Pro) c.9929T>C (p.Leu3310Pro) | |
| 8 | g.99861800T>G | CA371790275 | VPS13B | c.*238T>G (n.*238T>G) n.11214T>G c.*6826T>G (n.*6826T>G) c.11069T>G (p.Leu3690Arg) c.11144T>G (p.Leu3715Arg) c.11141T>G (p.Leu3714Arg) c.11066T>G (p.Leu3689Arg) c.10766T>G (p.Leu3589Arg) c.8030T>G (p.Leu2677Arg) c.6923T>G (p.Leu2308Arg) c.10949T>G (p.Leu3650Arg) c.6701T>G (p.Leu2234Arg) c.9929T>G (p.Leu3310Arg) | |
| 8 | g.99861801C>A | CA462338040 | VPS13B | c.*239C>A (n.*239C>A) n.11215C>A c.*6827C>A (n.*6827C>A) c.11070C>A (p.Leu3690=) c.11145C>A (p.Leu3715=) c.11142C>A (p.Leu3714=) c.11067C>A (p.Leu3689=) c.10767C>A (p.Leu3589=) c.8031C>A (p.Leu2677=) c.6924C>A (p.Leu2308=) c.10950C>A (p.Leu3650=) c.6702C>A (p.Leu2234=) c.9930C>A (p.Leu3310=) | |
| 8 | g.99861801C>G | CA462338041 | VPS13B | c.*239C>G (n.*239C>G) n.11215C>G c.*6827C>G (n.*6827C>G) c.11070C>G (p.Leu3690=) c.11145C>G (p.Leu3715=) c.11142C>G (p.Leu3714=) c.11067C>G (p.Leu3689=) c.10767C>G (p.Leu3589=) c.8031C>G (p.Leu2677=) c.6924C>G (p.Leu2308=) c.10950C>G (p.Leu3650=) c.6702C>G (p.Leu2234=) c.9930C>G (p.Leu3310=) | ClinVar dbSNP |
| 8 | g.99861801C>T | CA4825136 | VPS13B | c.*239C>T (n.*239C>T) n.11215C>T c.*6827C>T (n.*6827C>T) c.11070C>T (p.Leu3690=) c.11145C>T (p.Leu3715=) c.11142C>T (p.Leu3714=) c.11067C>T (p.Leu3689=) c.10767C>T (p.Leu3589=) c.8031C>T (p.Leu2677=) c.6924C>T (p.Leu2308=) c.10950C>T (p.Leu3650=) c.6702C>T (p.Leu2234=) c.9930C>T (p.Leu3310=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861802G>A | CA148910 | VPS13B | c.*240G>A (n.*240G>A) n.11216G>A c.*6828G>A (n.*6828G>A) c.11071G>A (p.Ala3691Thr) c.11146G>A (p.Ala3716Thr) c.11143G>A (p.Ala3715Thr) c.11068G>A (p.Ala3690Thr) c.10768G>A (p.Ala3590Thr) c.8032G>A (p.Ala2678Thr) c.6925G>A (p.Ala2309Thr) c.10951G>A (p.Ala3651Thr) c.6703G>A (p.Ala2235Thr) c.9931G>A (p.Ala3311Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861802G>C | CA371790281 | VPS13B | c.*240G>C (n.*240G>C) n.11216G>C c.*6828G>C (n.*6828G>C) c.11071G>C (p.Ala3691Pro) c.11146G>C (p.Ala3716Pro) c.11143G>C (p.Ala3715Pro) c.11068G>C (p.Ala3690Pro) c.10768G>C (p.Ala3590Pro) c.8032G>C (p.Ala2678Pro) c.6925G>C (p.Ala2309Pro) c.10951G>C (p.Ala3651Pro) c.6703G>C (p.Ala2235Pro) c.9931G>C (p.Ala3311Pro) | |
| 8 | g.99861802G>T | CA371790283 | VPS13B | c.*240G>T (n.*240G>T) n.11216G>T c.*6828G>T (n.*6828G>T) c.11071G>T (p.Ala3691Ser) c.11146G>T (p.Ala3716Ser) c.11143G>T (p.Ala3715Ser) c.11068G>T (p.Ala3690Ser) c.10768G>T (p.Ala3590Ser) c.8032G>T (p.Ala2678Ser) c.6925G>T (p.Ala2309Ser) c.10951G>T (p.Ala3651Ser) c.6703G>T (p.Ala2235Ser) c.9931G>T (p.Ala3311Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861803C>A | CA371790286 | VPS13B | c.*241C>A (n.*241C>A) n.11217C>A c.*6829C>A (n.*6829C>A) c.11072C>A (p.Ala3691Asp) c.11147C>A (p.Ala3716Asp) c.11144C>A (p.Ala3715Asp) c.11069C>A (p.Ala3690Asp) c.10769C>A (p.Ala3590Asp) c.8033C>A (p.Ala2678Asp) c.6926C>A (p.Ala2309Asp) c.10952C>A (p.Ala3651Asp) c.6704C>A (p.Ala2235Asp) c.9932C>A (p.Ala3311Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861803C>G | CA371790288 | VPS13B | c.*241C>G (n.*241C>G) n.11217C>G c.*6829C>G (n.*6829C>G) c.11072C>G (p.Ala3691Gly) c.11147C>G (p.Ala3716Gly) c.11144C>G (p.Ala3715Gly) c.11069C>G (p.Ala3690Gly) c.10769C>G (p.Ala3590Gly) c.8033C>G (p.Ala2678Gly) c.6926C>G (p.Ala2309Gly) c.10952C>G (p.Ala3651Gly) c.6704C>G (p.Ala2235Gly) c.9932C>G (p.Ala3311Gly) | |
| 8 | g.99861803C>T | CA371790290 | VPS13B | c.*241C>T (n.*241C>T) n.11217C>T c.*6829C>T (n.*6829C>T) c.11072C>T (p.Ala3691Val) c.11147C>T (p.Ala3716Val) c.11144C>T (p.Ala3715Val) c.11069C>T (p.Ala3690Val) c.10769C>T (p.Ala3590Val) c.8033C>T (p.Ala2678Val) c.6926C>T (p.Ala2309Val) c.10952C>T (p.Ala3651Val) c.6704C>T (p.Ala2235Val) c.9932C>T (p.Ala3311Val) | gnomAD v4 |
| 8 | g.99861804C>A | CA462338042 | VPS13B | c.*242C>A (n.*242C>A) n.11218C>A c.*6830C>A (n.*6830C>A) c.11073C>A (p.Ala3691=) c.11148C>A (p.Ala3716=) c.11145C>A (p.Ala3715=) c.11070C>A (p.Ala3690=) c.10770C>A (p.Ala3590=) c.8034C>A (p.Ala2678=) c.6927C>A (p.Ala2309=) c.10953C>A (p.Ala3651=) c.6705C>A (p.Ala2235=) c.9933C>A (p.Ala3311=) | gnomAD v4 |
| 8 | g.99861804C>G | CA462338043 | VPS13B | c.*242C>G (n.*242C>G) n.11218C>G c.*6830C>G (n.*6830C>G) c.11073C>G (p.Ala3691=) c.11148C>G (p.Ala3716=) c.11145C>G (p.Ala3715=) c.11070C>G (p.Ala3690=) c.10770C>G (p.Ala3590=) c.8034C>G (p.Ala2678=) c.6927C>G (p.Ala2309=) c.10953C>G (p.Ala3651=) c.6705C>G (p.Ala2235=) c.9933C>G (p.Ala3311=) | |
| 8 | g.99861804C>T | CA462338044 | VPS13B | c.*242C>T (n.*242C>T) n.11218C>T c.*6830C>T (n.*6830C>T) c.11073C>T (p.Ala3691=) c.11148C>T (p.Ala3716=) c.11145C>T (p.Ala3715=) c.11070C>T (p.Ala3690=) c.10770C>T (p.Ala3590=) c.8034C>T (p.Ala2678=) c.6927C>T (p.Ala2309=) c.10953C>T (p.Ala3651=) c.6705C>T (p.Ala2235=) c.9933C>T (p.Ala3311=) | |
| 8 | g.99861805A>C | CA371790292 | VPS13B | c.*243A>C (n.*243A>C) n.11219A>C c.*6831A>C (n.*6831A>C) c.11074A>C (p.Thr3692Pro) c.11149A>C (p.Thr3717Pro) c.11146A>C (p.Thr3716Pro) c.11071A>C (p.Thr3691Pro) c.10771A>C (p.Thr3591Pro) c.8035A>C (p.Thr2679Pro) c.6928A>C (p.Thr2310Pro) c.10954A>C (p.Thr3652Pro) c.6706A>C (p.Thr2236Pro) c.9934A>C (p.Thr3312Pro) | |
| 8 | g.99861805A>G | CA371790294 | VPS13B | c.*243A>G (n.*243A>G) n.11219A>G c.*6831A>G (n.*6831A>G) c.11074A>G (p.Thr3692Ala) c.11149A>G (p.Thr3717Ala) c.11146A>G (p.Thr3716Ala) c.11071A>G (p.Thr3691Ala) c.10771A>G (p.Thr3591Ala) c.8035A>G (p.Thr2679Ala) c.6928A>G (p.Thr2310Ala) c.10954A>G (p.Thr3652Ala) c.6706A>G (p.Thr2236Ala) c.9934A>G (p.Thr3312Ala) | |
| 8 | g.99861805A>T | CA371790296 | VPS13B | c.*243A>T (n.*243A>T) n.11219A>T c.*6831A>T (n.*6831A>T) c.11074A>T (p.Thr3692Ser) c.11149A>T (p.Thr3717Ser) c.11146A>T (p.Thr3716Ser) c.11071A>T (p.Thr3691Ser) c.10771A>T (p.Thr3591Ser) c.8035A>T (p.Thr2679Ser) c.6928A>T (p.Thr2310Ser) c.10954A>T (p.Thr3652Ser) c.6706A>T (p.Thr2236Ser) c.9934A>T (p.Thr3312Ser) | |
| 8 | g.99861806C>A | CA371790301 | VPS13B | c.*244C>A (n.*244C>A) n.11220C>A c.*6832C>A (n.*6832C>A) c.11075C>A (p.Thr3692Lys) c.11150C>A (p.Thr3717Lys) c.11147C>A (p.Thr3716Lys) c.11072C>A (p.Thr3691Lys) c.10772C>A (p.Thr3591Lys) c.8036C>A (p.Thr2679Lys) c.6929C>A (p.Thr2310Lys) c.10955C>A (p.Thr3652Lys) c.6707C>A (p.Thr2236Lys) c.9935C>A (p.Thr3312Lys) | gnomAD v4 |
| 8 | g.99861806C>G | CA371790303 | VPS13B | c.*244C>G (n.*244C>G) n.11220C>G c.*6832C>G (n.*6832C>G) c.11075C>G (p.Thr3692Arg) c.11150C>G (p.Thr3717Arg) c.11147C>G (p.Thr3716Arg) c.11072C>G (p.Thr3691Arg) c.10772C>G (p.Thr3591Arg) c.8036C>G (p.Thr2679Arg) c.6929C>G (p.Thr2310Arg) c.10955C>G (p.Thr3652Arg) c.6707C>G (p.Thr2236Arg) c.9935C>G (p.Thr3312Arg) | |
| 8 | g.99861806C>T | CA371790299 | VPS13B | c.*244C>T (n.*244C>T) n.11220C>T c.*6832C>T (n.*6832C>T) c.11075C>T (p.Thr3692Ile) c.11150C>T (p.Thr3717Ile) c.11147C>T (p.Thr3716Ile) c.11072C>T (p.Thr3691Ile) c.10772C>T (p.Thr3591Ile) c.8036C>T (p.Thr2679Ile) c.6929C>T (p.Thr2310Ile) c.10955C>T (p.Thr3652Ile) c.6707C>T (p.Thr2236Ile) c.9935C>T (p.Thr3312Ile) | |
| 8 | g.99861807A>C | CA462338045 | VPS13B | c.*245A>C (n.*245A>C) n.11221A>C c.*6833A>C (n.*6833A>C) c.11076A>C (p.Thr3692=) c.11151A>C (p.Thr3717=) c.11148A>C (p.Thr3716=) c.11073A>C (p.Thr3691=) c.10773A>C (p.Thr3591=) c.8037A>C (p.Thr2679=) c.6930A>C (p.Thr2310=) c.10956A>C (p.Thr3652=) c.6708A>C (p.Thr2236=) c.9936A>C (p.Thr3312=) | |
| 8 | g.99861807A>G | CA462338046 | VPS13B | c.*245A>G (n.*245A>G) n.11221A>G c.*6833A>G (n.*6833A>G) c.11076A>G (p.Thr3692=) c.11151A>G (p.Thr3717=) c.11148A>G (p.Thr3716=) c.11073A>G (p.Thr3691=) c.10773A>G (p.Thr3591=) c.8037A>G (p.Thr2679=) c.6930A>G (p.Thr2310=) c.10956A>G (p.Thr3652=) c.6708A>G (p.Thr2236=) c.9936A>G (p.Thr3312=) | ClinVar |
| 8 | g.99861807A>T | CA462338047 | VPS13B | c.*245A>T (n.*245A>T) n.11221A>T c.*6833A>T (n.*6833A>T) c.11076A>T (p.Thr3692=) c.11151A>T (p.Thr3717=) c.11148A>T (p.Thr3716=) c.11073A>T (p.Thr3691=) c.10773A>T (p.Thr3591=) c.8037A>T (p.Thr2679=) c.6930A>T (p.Thr2310=) c.10956A>T (p.Thr3652=) c.6708A>T (p.Thr2236=) c.9936A>T (p.Thr3312=) | |
| 8 | g.99861808del | CA4825137 | VPS13B | c.*246del (n.*246del) n.11222del c.*6834del (n.*6834del) c.11077del (p.Ser3693AlafsTer?) c.11152del (p.Ser3718AlafsTer?) c.11149del (p.Ser3717AlafsTer?) c.11074del (p.Ser3692AlafsTer?) c.10774del (p.Ser3592AlafsTer?) c.8038del (p.Ser2680AlafsTer?) c.6931del (p.Ser2311AlafsTer?) c.10957del (p.Ser3653AlafsTer?) c.6709del (p.Ser2237AlafsTer?) c.9937del (p.Ser3313AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99861808A>C | CA371790306 | VPS13B | c.*246A>C (n.*246A>C) n.11222A>C c.*6834A>C (n.*6834A>C) c.11077A>C (p.Ser3693Arg) c.11152A>C (p.Ser3718Arg) c.11149A>C (p.Ser3717Arg) c.11074A>C (p.Ser3692Arg) c.10774A>C (p.Ser3592Arg) c.8038A>C (p.Ser2680Arg) c.6931A>C (p.Ser2311Arg) c.10957A>C (p.Ser3653Arg) c.6709A>C (p.Ser2237Arg) c.9937A>C (p.Ser3313Arg) | |
| 8 | g.99861808A>G | CA371790308 | VPS13B | c.*246A>G (n.*246A>G) n.11222A>G c.*6834A>G (n.*6834A>G) c.11077A>G (p.Ser3693Gly) c.11152A>G (p.Ser3718Gly) c.11149A>G (p.Ser3717Gly) c.11074A>G (p.Ser3692Gly) c.10774A>G (p.Ser3592Gly) c.8038A>G (p.Ser2680Gly) c.6931A>G (p.Ser2311Gly) c.10957A>G (p.Ser3653Gly) c.6709A>G (p.Ser2237Gly) c.9937A>G (p.Ser3313Gly) | gnomAD v4 |
| 8 | g.99861808A>T | CA182321336 | VPS13B | c.*246A>T (n.*246A>T) n.11222A>T c.*6834A>T (n.*6834A>T) c.11077A>T (p.Ser3693Cys) c.11152A>T (p.Ser3718Cys) c.11149A>T (p.Ser3717Cys) c.11074A>T (p.Ser3692Cys) c.10774A>T (p.Ser3592Cys) c.8038A>T (p.Ser2680Cys) c.6931A>T (p.Ser2311Cys) c.10957A>T (p.Ser3653Cys) c.6709A>T (p.Ser2237Cys) c.9937A>T (p.Ser3313Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861809G>A | CA371790312 | VPS13B | c.*247G>A (n.*247G>A) n.11223G>A c.*6835G>A (n.*6835G>A) c.11078G>A (p.Ser3693Asn) c.11153G>A (p.Ser3718Asn) c.11150G>A (p.Ser3717Asn) c.11075G>A (p.Ser3692Asn) c.10775G>A (p.Ser3592Asn) c.8039G>A (p.Ser2680Asn) c.6932G>A (p.Ser2311Asn) c.10958G>A (p.Ser3653Asn) c.6710G>A (p.Ser2237Asn) c.9938G>A (p.Ser3313Asn) |