Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99868397A>C | CA371792144 | VPS13B | c.*493A>C (n.*493A>C) n.11469A>C c.*7081A>C (n.*7081A>C) c.11324A>C (p.Lys3775Thr) c.11399A>C (p.Lys3800Thr) n.341A>C c.11396A>C (p.Lys3799Thr) c.11321A>C (p.Lys3774Thr) c.11021A>C (p.Lys3674Thr) c.8285A>C (p.Lys2762Thr) c.7178A>C (p.Lys2393Thr) c.11204A>C (p.Lys3735Thr) c.6956A>C (p.Lys2319Thr) c.10184A>C (p.Lys3395Thr) | |
8 | g.99868397A>G | CA371792145 | VPS13B | c.*493A>G (n.*493A>G) n.11469A>G c.*7081A>G (n.*7081A>G) c.11324A>G (p.Lys3775Arg) c.11399A>G (p.Lys3800Arg) n.341A>G c.11396A>G (p.Lys3799Arg) c.11321A>G (p.Lys3774Arg) c.11021A>G (p.Lys3674Arg) c.8285A>G (p.Lys2762Arg) c.7178A>G (p.Lys2393Arg) c.11204A>G (p.Lys3735Arg) c.6956A>G (p.Lys2319Arg) c.10184A>G (p.Lys3395Arg) | gnomAD v4 |
8 | g.99868397A>T | CA371792142 | VPS13B | c.*493A>T (n.*493A>T) n.11469A>T c.*7081A>T (n.*7081A>T) c.11324A>T (p.Lys3775Ile) c.11399A>T (p.Lys3800Ile) n.341A>T c.11396A>T (p.Lys3799Ile) c.11321A>T (p.Lys3774Ile) c.11021A>T (p.Lys3674Ile) c.8285A>T (p.Lys2762Ile) c.7178A>T (p.Lys2393Ile) c.11204A>T (p.Lys3735Ile) c.6956A>T (p.Lys2319Ile) c.10184A>T (p.Lys3395Ile) | |
8 | g.99868398A>C | CA371792147 | VPS13B | c.*494A>C (n.*494A>C) n.11470A>C c.*7082A>C (n.*7082A>C) c.11325A>C (p.Lys3775Asn) c.11400A>C (p.Lys3800Asn) n.342A>C c.11397A>C (p.Lys3799Asn) c.11322A>C (p.Lys3774Asn) c.11022A>C (p.Lys3674Asn) c.8286A>C (p.Lys2762Asn) c.7179A>C (p.Lys2393Asn) c.11205A>C (p.Lys3735Asn) c.6957A>C (p.Lys2319Asn) c.10185A>C (p.Lys3395Asn) | |
8 | g.99868398A>G | CA462339334 | VPS13B | c.*494A>G (n.*494A>G) n.11470A>G c.*7082A>G (n.*7082A>G) c.11325A>G (p.Lys3775=) c.11400A>G (p.Lys3800=) n.342A>G c.11397A>G (p.Lys3799=) c.11322A>G (p.Lys3774=) c.11022A>G (p.Lys3674=) c.8286A>G (p.Lys2762=) c.7179A>G (p.Lys2393=) c.11205A>G (p.Lys3735=) c.6957A>G (p.Lys2319=) c.10185A>G (p.Lys3395=) | ClinVar dbSNP gnomAD v4 |
8 | g.99868398A>T | CA371792146 | VPS13B | c.*494A>T (n.*494A>T) n.11470A>T c.*7082A>T (n.*7082A>T) c.11325A>T (p.Lys3775Asn) c.11400A>T (p.Lys3800Asn) n.342A>T c.11397A>T (p.Lys3799Asn) c.11322A>T (p.Lys3774Asn) c.11022A>T (p.Lys3674Asn) c.8286A>T (p.Lys2762Asn) c.7179A>T (p.Lys2393Asn) c.11205A>T (p.Lys3735Asn) c.6957A>T (p.Lys2319Asn) c.10185A>T (p.Lys3395Asn) | |
8 | g.99868399G>A | CA371792150 | VPS13B | c.*495G>A (n.*495G>A) n.11471G>A c.*7083G>A (n.*7083G>A) c.11326G>A (p.Gly3776Arg) c.11401G>A (p.Gly3801Arg) n.343G>A c.11398G>A (p.Gly3800Arg) c.11323G>A (p.Gly3775Arg) c.11023G>A (p.Gly3675Arg) c.8287G>A (p.Gly2763Arg) c.7180G>A (p.Gly2394Arg) c.11206G>A (p.Gly3736Arg) c.6958G>A (p.Gly2320Arg) c.10186G>A (p.Gly3396Arg) | gnomAD v4 |
8 | g.99868399G>C | CA371792148 | VPS13B | c.*495G>C (n.*495G>C) n.11471G>C c.*7083G>C (n.*7083G>C) c.11326G>C (p.Gly3776Arg) c.11401G>C (p.Gly3801Arg) n.343G>C c.11398G>C (p.Gly3800Arg) c.11323G>C (p.Gly3775Arg) c.11023G>C (p.Gly3675Arg) c.8287G>C (p.Gly2763Arg) c.7180G>C (p.Gly2394Arg) c.11206G>C (p.Gly3736Arg) c.6958G>C (p.Gly2320Arg) c.10186G>C (p.Gly3396Arg) | |
8 | g.99868399G>T | CA371792149 | VPS13B | c.*495G>T (n.*495G>T) n.11471G>T c.*7083G>T (n.*7083G>T) c.11326G>T (p.Gly3776Ter) c.11401G>T (p.Gly3801Ter) n.343G>T c.11398G>T (p.Gly3800Ter) c.11323G>T (p.Gly3775Ter) c.11023G>T (p.Gly3675Ter) c.8287G>T (p.Gly2763Ter) c.7180G>T (p.Gly2394Ter) c.11206G>T (p.Gly3736Ter) c.6958G>T (p.Gly2320Ter) c.10186G>T (p.Gly3396Ter) | |
8 | g.99868400G>A | CA371792151 | VPS13B | c.*496G>A (n.*496G>A) n.11472G>A c.*7084G>A (n.*7084G>A) c.11327G>A (p.Gly3776Glu) c.11402G>A (p.Gly3801Glu) n.344G>A c.11399G>A (p.Gly3800Glu) c.11324G>A (p.Gly3775Glu) c.11024G>A (p.Gly3675Glu) c.8288G>A (p.Gly2763Glu) c.7181G>A (p.Gly2394Glu) c.11207G>A (p.Gly3736Glu) c.6959G>A (p.Gly2320Glu) c.10187G>A (p.Gly3396Glu) | ClinVar |
8 | g.99868400G>C | CA371792154 | VPS13B | c.*496G>C (n.*496G>C) n.11472G>C c.*7084G>C (n.*7084G>C) c.11327G>C (p.Gly3776Ala) c.11402G>C (p.Gly3801Ala) n.344G>C c.11399G>C (p.Gly3800Ala) c.11324G>C (p.Gly3775Ala) c.11024G>C (p.Gly3675Ala) c.8288G>C (p.Gly2763Ala) c.7181G>C (p.Gly2394Ala) c.11207G>C (p.Gly3736Ala) c.6959G>C (p.Gly2320Ala) c.10187G>C (p.Gly3396Ala) | gnomAD v4 |
8 | g.99868400G>T | CA371792157 | VPS13B | c.*496G>T (n.*496G>T) n.11472G>T c.*7084G>T (n.*7084G>T) c.11327G>T (p.Gly3776Val) c.11402G>T (p.Gly3801Val) n.344G>T c.11399G>T (p.Gly3800Val) c.11324G>T (p.Gly3775Val) c.11024G>T (p.Gly3675Val) c.8288G>T (p.Gly2763Val) c.7181G>T (p.Gly2394Val) c.11207G>T (p.Gly3736Val) c.6959G>T (p.Gly2320Val) c.10187G>T (p.Gly3396Val) | gnomAD v4 |
8 | g.99868401A>C | CA462339339 | VPS13B | c.*497A>C (n.*497A>C) n.11473A>C c.*7085A>C (n.*7085A>C) c.11328A>C (p.Gly3776=) c.11403A>C (p.Gly3801=) n.345A>C c.11400A>C (p.Gly3800=) c.11325A>C (p.Gly3775=) c.11025A>C (p.Gly3675=) c.8289A>C (p.Gly2763=) c.7182A>C (p.Gly2394=) c.11208A>C (p.Gly3736=) c.6960A>C (p.Gly2320=) c.10188A>C (p.Gly3396=) | gnomAD v4 |
8 | g.99868401A>G | CA462339337 | VPS13B | c.*497A>G (n.*497A>G) n.11473A>G c.*7085A>G (n.*7085A>G) c.11328A>G (p.Gly3776=) c.11403A>G (p.Gly3801=) n.345A>G c.11400A>G (p.Gly3800=) c.11325A>G (p.Gly3775=) c.11025A>G (p.Gly3675=) c.8289A>G (p.Gly2763=) c.7182A>G (p.Gly2394=) c.11208A>G (p.Gly3736=) c.6960A>G (p.Gly2320=) c.10188A>G (p.Gly3396=) | |
8 | g.99868401A>T | CA462339335 | VPS13B | c.*497A>T (n.*497A>T) n.11473A>T c.*7085A>T (n.*7085A>T) c.11328A>T (p.Gly3776=) c.11403A>T (p.Gly3801=) n.345A>T c.11400A>T (p.Gly3800=) c.11325A>T (p.Gly3775=) c.11025A>T (p.Gly3675=) c.8289A>T (p.Gly2763=) c.7182A>T (p.Gly2394=) c.11208A>T (p.Gly3736=) c.6960A>T (p.Gly2320=) c.10188A>T (p.Gly3396=) | |
8 | g.99868402A>C | CA371792158 | VPS13B | c.*498A>C (n.*498A>C) n.11474A>C c.*7086A>C (n.*7086A>C) c.11329A>C (p.Ile3777Leu) c.11404A>C (p.Ile3802Leu) n.346A>C c.11401A>C (p.Ile3801Leu) c.11326A>C (p.Ile3776Leu) c.11026A>C (p.Ile3676Leu) c.8290A>C (p.Ile2764Leu) c.7183A>C (p.Ile2395Leu) c.11209A>C (p.Ile3737Leu) c.6961A>C (p.Ile2321Leu) c.10189A>C (p.Ile3397Leu) | |
8 | g.99868402A>G | CA371792159 | VPS13B | c.*498A>G (n.*498A>G) n.11474A>G c.*7086A>G (n.*7086A>G) c.11329A>G (p.Ile3777Val) c.11404A>G (p.Ile3802Val) n.346A>G c.11401A>G (p.Ile3801Val) c.11326A>G (p.Ile3776Val) c.11026A>G (p.Ile3676Val) c.8290A>G (p.Ile2764Val) c.7183A>G (p.Ile2395Val) c.11209A>G (p.Ile3737Val) c.6961A>G (p.Ile2321Val) c.10189A>G (p.Ile3397Val) | |
8 | g.99868402A>T | CA371792160 | VPS13B | c.*498A>T (n.*498A>T) n.11474A>T c.*7086A>T (n.*7086A>T) c.11329A>T (p.Ile3777Phe) c.11404A>T (p.Ile3802Phe) n.346A>T c.11401A>T (p.Ile3801Phe) c.11326A>T (p.Ile3776Phe) c.11026A>T (p.Ile3676Phe) c.8290A>T (p.Ile2764Phe) c.7183A>T (p.Ile2395Phe) c.11209A>T (p.Ile3737Phe) c.6961A>T (p.Ile2321Phe) c.10189A>T (p.Ile3397Phe) | gnomAD v4 |
8 | g.99868403T>A | CA371792161 | VPS13B | c.*499T>A (n.*499T>A) n.11475T>A c.*7087T>A (n.*7087T>A) c.11330T>A (p.Ile3777Asn) c.11405T>A (p.Ile3802Asn) n.347T>A c.11402T>A (p.Ile3801Asn) c.11327T>A (p.Ile3776Asn) c.11027T>A (p.Ile3676Asn) c.8291T>A (p.Ile2764Asn) c.7184T>A (p.Ile2395Asn) c.11210T>A (p.Ile3737Asn) c.6962T>A (p.Ile2321Asn) c.10190T>A (p.Ile3397Asn) | |
8 | g.99868403T>C | CA371792164 | VPS13B | c.*499T>C (n.*499T>C) n.11475T>C c.*7087T>C (n.*7087T>C) c.11330T>C (p.Ile3777Thr) c.11405T>C (p.Ile3802Thr) n.347T>C c.11402T>C (p.Ile3801Thr) c.11327T>C (p.Ile3776Thr) c.11027T>C (p.Ile3676Thr) c.8291T>C (p.Ile2764Thr) c.7184T>C (p.Ile2395Thr) c.11210T>C (p.Ile3737Thr) c.6962T>C (p.Ile2321Thr) c.10190T>C (p.Ile3397Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868403T>G | CA371792162 | VPS13B | c.*499T>G (n.*499T>G) n.11475T>G c.*7087T>G (n.*7087T>G) c.11330T>G (p.Ile3777Ser) c.11405T>G (p.Ile3802Ser) n.347T>G c.11402T>G (p.Ile3801Ser) c.11327T>G (p.Ile3776Ser) c.11027T>G (p.Ile3676Ser) c.8291T>G (p.Ile2764Ser) c.7184T>G (p.Ile2395Ser) c.11210T>G (p.Ile3737Ser) c.6962T>G (p.Ile2321Ser) c.10190T>G (p.Ile3397Ser) | |
8 | g.99868404C>A | CA462339341 | VPS13B | c.*500C>A (n.*500C>A) n.11476C>A c.*7088C>A (n.*7088C>A) c.11331C>A (p.Ile3777=) c.11406C>A (p.Ile3802=) n.348C>A c.11403C>A (p.Ile3801=) c.11328C>A (p.Ile3776=) c.11028C>A (p.Ile3676=) c.8292C>A (p.Ile2764=) c.7185C>A (p.Ile2395=) c.11211C>A (p.Ile3737=) c.6963C>A (p.Ile2321=) c.10191C>A (p.Ile3397=) | |
8 | g.99868404C>G | CA371792166 | VPS13B | c.*500C>G (n.*500C>G) n.11476C>G c.*7088C>G (n.*7088C>G) c.11331C>G (p.Ile3777Met) c.11406C>G (p.Ile3802Met) n.348C>G c.11403C>G (p.Ile3801Met) c.11328C>G (p.Ile3776Met) c.11028C>G (p.Ile3676Met) c.8292C>G (p.Ile2764Met) c.7185C>G (p.Ile2395Met) c.11211C>G (p.Ile3737Met) c.6963C>G (p.Ile2321Met) c.10191C>G (p.Ile3397Met) | |
8 | g.99868404C>T | CA182328687 | VPS13B | c.*500C>T (n.*500C>T) n.11476C>T c.*7088C>T (n.*7088C>T) c.11331C>T (p.Ile3777=) c.11406C>T (p.Ile3802=) n.348C>T c.11403C>T (p.Ile3801=) c.11328C>T (p.Ile3776=) c.11028C>T (p.Ile3676=) c.8292C>T (p.Ile2764=) c.7185C>T (p.Ile2395=) c.11211C>T (p.Ile3737=) c.6963C>T (p.Ile2321=) c.10191C>T (p.Ile3397=) | ClinVar dbSNP gnomAD v4 |
8 | g.99868405A>C | CA371792169 | VPS13B | c.*501A>C (n.*501A>C) n.11477A>C c.*7089A>C (n.*7089A>C) c.11332A>C (p.Met3778Leu) c.11407A>C (p.Met3803Leu) n.349A>C c.11404A>C (p.Met3802Leu) c.11329A>C (p.Met3777Leu) c.11029A>C (p.Met3677Leu) c.8293A>C (p.Met2765Leu) c.7186A>C (p.Met2396Leu) c.11212A>C (p.Met3738Leu) c.6964A>C (p.Met2322Leu) c.10192A>C (p.Met3398Leu) | |
8 | g.99868405A>G | CA371792171 | VPS13B | c.*501A>G (n.*501A>G) n.11477A>G c.*7089A>G (n.*7089A>G) c.11332A>G (p.Met3778Val) c.11407A>G (p.Met3803Val) n.349A>G c.11404A>G (p.Met3802Val) c.11329A>G (p.Met3777Val) c.11029A>G (p.Met3677Val) c.8293A>G (p.Met2765Val) c.7186A>G (p.Met2396Val) c.11212A>G (p.Met3738Val) c.6964A>G (p.Met2322Val) c.10192A>G (p.Met3398Val) | |
8 | g.99868405A>T | CA371792174 | VPS13B | c.*501A>T (n.*501A>T) n.11477A>T c.*7089A>T (n.*7089A>T) c.11332A>T (p.Met3778Leu) c.11407A>T (p.Met3803Leu) n.349A>T c.11404A>T (p.Met3802Leu) c.11329A>T (p.Met3777Leu) c.11029A>T (p.Met3677Leu) c.8293A>T (p.Met2765Leu) c.7186A>T (p.Met2396Leu) c.11212A>T (p.Met3738Leu) c.6964A>T (p.Met2322Leu) c.10192A>T (p.Met3398Leu) | |
8 | g.99868406T>A | CA371792179 | VPS13B | c.*502T>A (n.*502T>A) n.11478T>A c.*7090T>A (n.*7090T>A) c.11333T>A (p.Met3778Lys) c.11408T>A (p.Met3803Lys) n.350T>A c.11405T>A (p.Met3802Lys) c.11330T>A (p.Met3777Lys) c.11030T>A (p.Met3677Lys) c.8294T>A (p.Met2765Lys) c.7187T>A (p.Met2396Lys) c.11213T>A (p.Met3738Lys) c.6965T>A (p.Met2322Lys) c.10193T>A (p.Met3398Lys) | |
8 | g.99868406T>C | CA4825210 | VPS13B | c.*502T>C (n.*502T>C) n.11478T>C c.*7090T>C (n.*7090T>C) c.11333T>C (p.Met3778Thr) c.11408T>C (p.Met3803Thr) n.350T>C c.11405T>C (p.Met3802Thr) c.11330T>C (p.Met3777Thr) c.11030T>C (p.Met3677Thr) c.8294T>C (p.Met2765Thr) c.7187T>C (p.Met2396Thr) c.11213T>C (p.Met3738Thr) c.6965T>C (p.Met2322Thr) c.10193T>C (p.Met3398Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868406T>G | CA371792183 | VPS13B | c.*502T>G (n.*502T>G) n.11478T>G c.*7090T>G (n.*7090T>G) c.11333T>G (p.Met3778Arg) c.11408T>G (p.Met3803Arg) n.350T>G c.11405T>G (p.Met3802Arg) c.11330T>G (p.Met3777Arg) c.11030T>G (p.Met3677Arg) c.8294T>G (p.Met2765Arg) c.7187T>G (p.Met2396Arg) c.11213T>G (p.Met3738Arg) c.6965T>G (p.Met2322Arg) c.10193T>G (p.Met3398Arg) | |
8 | g.99868406dup | CA913128148 | VPS13B | c.*502dup (n.*502dup) n.11478dup c.*7090dup (n.*7090dup) c.11333dup (p.Met3778IlefsTer13) c.11408dup (p.Met3803IlefsTer13) n.350dup c.11405dup (p.Met3802IlefsTer13) c.11330dup (p.Met3777IlefsTer13) c.11030dup (p.Met3677IlefsTer13) c.8294dup (p.Met2765IlefsTer13) c.7187dup (p.Met2396IlefsTer13) c.11213dup (p.Met3738IlefsTer13) c.6965dup (p.Met2322IlefsTer13) c.10193dup (p.Met3398IlefsTer13) | |
8 | g.99868407G>A | CA4825211 | VPS13B | c.*503G>A (n.*503G>A) n.11479G>A c.*7091G>A (n.*7091G>A) c.11334G>A (p.Met3778Ile) c.11409G>A (p.Met3803Ile) n.351G>A c.11406G>A (p.Met3802Ile) c.11331G>A (p.Met3777Ile) c.11031G>A (p.Met3677Ile) c.8295G>A (p.Met2765Ile) c.7188G>A (p.Met2396Ile) c.11214G>A (p.Met3738Ile) c.6966G>A (p.Met2322Ile) c.10194G>A (p.Met3398Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868407G>C | CA371792189 | VPS13B | c.*503G>C (n.*503G>C) n.11479G>C c.*7091G>C (n.*7091G>C) c.11334G>C (p.Met3778Ile) c.11409G>C (p.Met3803Ile) n.351G>C c.11406G>C (p.Met3802Ile) c.11331G>C (p.Met3777Ile) c.11031G>C (p.Met3677Ile) c.8295G>C (p.Met2765Ile) c.7188G>C (p.Met2396Ile) c.11214G>C (p.Met3738Ile) c.6966G>C (p.Met2322Ile) c.10194G>C (p.Met3398Ile) | ClinVar dbSNP |
8 | g.99868407G>T | CA371792192 | VPS13B | c.*503G>T (n.*503G>T) n.11479G>T c.*7091G>T (n.*7091G>T) c.11334G>T (p.Met3778Ile) c.11409G>T (p.Met3803Ile) n.351G>T c.11406G>T (p.Met3802Ile) c.11331G>T (p.Met3777Ile) c.11031G>T (p.Met3677Ile) c.8295G>T (p.Met2765Ile) c.7188G>T (p.Met2396Ile) c.11214G>T (p.Met3738Ile) c.6966G>T (p.Met2322Ile) c.10194G>T (p.Met3398Ile) | |
8 | g.99868411dup | CA658821918 | VPS13B | c.*507dup (n.*507dup) n.11483dup c.*7095dup (n.*7095dup) c.11338dup (p.Val3780GlyfsTer11) c.11413dup (p.Val3805GlyfsTer11) n.355dup c.11410dup (p.Val3804GlyfsTer11) c.11335dup (p.Val3779GlyfsTer11) c.11035dup (p.Val3679GlyfsTer11) c.8299dup (p.Val2767GlyfsTer11) c.7192dup (p.Val2398GlyfsTer11) c.11218dup (p.Val3740GlyfsTer11) c.6970dup (p.Val2324GlyfsTer11) c.10198dup (p.Val3400GlyfsTer11) | ClinVar dbSNP |
8 | g.99868408G>A | CA371792194 | VPS13B | c.*504G>A (n.*504G>A) n.11480G>A c.*7092G>A (n.*7092G>A) c.11335G>A (p.Gly3779Arg) c.11410G>A (p.Gly3804Arg) n.352G>A c.11407G>A (p.Gly3803Arg) c.11332G>A (p.Gly3778Arg) c.11032G>A (p.Gly3678Arg) c.8296G>A (p.Gly2766Arg) c.7189G>A (p.Gly2397Arg) c.11215G>A (p.Gly3739Arg) c.6967G>A (p.Gly2323Arg) c.10195G>A (p.Gly3399Arg) | |
8 | g.99868408G>C | CA371792197 | VPS13B | c.*504G>C (n.*504G>C) n.11480G>C c.*7092G>C (n.*7092G>C) c.11335G>C (p.Gly3779Arg) c.11410G>C (p.Gly3804Arg) n.352G>C c.11407G>C (p.Gly3803Arg) c.11332G>C (p.Gly3778Arg) c.11032G>C (p.Gly3678Arg) c.8296G>C (p.Gly2766Arg) c.7189G>C (p.Gly2397Arg) c.11215G>C (p.Gly3739Arg) c.6967G>C (p.Gly2323Arg) c.10195G>C (p.Gly3399Arg) | |
8 | g.99868408G>T | CA371792199 | VPS13B | c.*504G>T (n.*504G>T) n.11480G>T c.*7092G>T (n.*7092G>T) c.11335G>T (p.Gly3779Trp) c.11410G>T (p.Gly3804Trp) n.352G>T c.11407G>T (p.Gly3803Trp) c.11332G>T (p.Gly3778Trp) c.11032G>T (p.Gly3678Trp) c.8296G>T (p.Gly2766Trp) c.7189G>T (p.Gly2397Trp) c.11215G>T (p.Gly3739Trp) c.6967G>T (p.Gly2323Trp) c.10195G>T (p.Gly3399Trp) | |
8 | g.99868409G>A | CA371792202 | VPS13B | c.*505G>A (n.*505G>A) n.11481G>A c.*7093G>A (n.*7093G>A) c.11336G>A (p.Gly3779Glu) c.11411G>A (p.Gly3804Glu) n.353G>A c.11408G>A (p.Gly3803Glu) c.11333G>A (p.Gly3778Glu) c.11033G>A (p.Gly3678Glu) c.8297G>A (p.Gly2766Glu) c.7190G>A (p.Gly2397Glu) c.11216G>A (p.Gly3739Glu) c.6968G>A (p.Gly2323Glu) c.10196G>A (p.Gly3399Glu) | |
8 | g.99868409G>C | CA371792205 | VPS13B | c.*505G>C (n.*505G>C) n.11481G>C c.*7093G>C (n.*7093G>C) c.11336G>C (p.Gly3779Ala) c.11411G>C (p.Gly3804Ala) n.353G>C c.11408G>C (p.Gly3803Ala) c.11333G>C (p.Gly3778Ala) c.11033G>C (p.Gly3678Ala) c.8297G>C (p.Gly2766Ala) c.7190G>C (p.Gly2397Ala) c.11216G>C (p.Gly3739Ala) c.6968G>C (p.Gly2323Ala) c.10196G>C (p.Gly3399Ala) | ClinVar |
8 | g.99868409G>T | CA371792207 | VPS13B | c.*505G>T (n.*505G>T) n.11481G>T c.*7093G>T (n.*7093G>T) c.11336G>T (p.Gly3779Val) c.11411G>T (p.Gly3804Val) n.353G>T c.11408G>T (p.Gly3803Val) c.11333G>T (p.Gly3778Val) c.11033G>T (p.Gly3678Val) c.8297G>T (p.Gly2766Val) c.7190G>T (p.Gly2397Val) c.11216G>T (p.Gly3739Val) c.6968G>T (p.Gly2323Val) c.10196G>T (p.Gly3399Val) | |
8 | g.99868410G>A | CA462339350 | VPS13B | c.*506G>A (n.*506G>A) n.11482G>A c.*7094G>A (n.*7094G>A) c.11337G>A (p.Gly3779=) c.11412G>A (p.Gly3804=) n.354G>A c.11409G>A (p.Gly3803=) c.11334G>A (p.Gly3778=) c.11034G>A (p.Gly3678=) c.8298G>A (p.Gly2766=) c.7191G>A (p.Gly2397=) c.11217G>A (p.Gly3739=) c.6969G>A (p.Gly2323=) c.10197G>A (p.Gly3399=) | |
8 | g.99868410G>C | CA462339351 | VPS13B | c.*506G>C (n.*506G>C) n.11482G>C c.*7094G>C (n.*7094G>C) c.11337G>C (p.Gly3779=) c.11412G>C (p.Gly3804=) n.354G>C c.11409G>C (p.Gly3803=) c.11334G>C (p.Gly3778=) c.11034G>C (p.Gly3678=) c.8298G>C (p.Gly2766=) c.7191G>C (p.Gly2397=) c.11217G>C (p.Gly3739=) c.6969G>C (p.Gly2323=) c.10197G>C (p.Gly3399=) | ClinVar dbSNP |
8 | g.99868410G>T | CA462339353 | VPS13B | c.*506G>T (n.*506G>T) n.11482G>T c.*7094G>T (n.*7094G>T) c.11337G>T (p.Gly3779=) c.11412G>T (p.Gly3804=) n.354G>T c.11409G>T (p.Gly3803=) c.11334G>T (p.Gly3778=) c.11034G>T (p.Gly3678=) c.8298G>T (p.Gly2766=) c.7191G>T (p.Gly2397=) c.11217G>T (p.Gly3739=) c.6969G>T (p.Gly2323=) c.10197G>T (p.Gly3399=) | gnomAD v4 |
8 | g.99868411G>A | CA371792211 | VPS13B | c.*507G>A (n.*507G>A) n.11483G>A c.*7095G>A (n.*7095G>A) c.11338G>A (p.Val3780Met) c.11413G>A (p.Val3805Met) n.355G>A c.11410G>A (p.Val3804Met) c.11335G>A (p.Val3779Met) c.11035G>A (p.Val3679Met) c.8299G>A (p.Val2767Met) c.7192G>A (p.Val2398Met) c.11218G>A (p.Val3740Met) c.6970G>A (p.Val2324Met) c.10198G>A (p.Val3400Met) | dbSNP |
8 | g.99868411G>C | CA371792214 | VPS13B | c.*507G>C (n.*507G>C) n.11483G>C c.*7095G>C (n.*7095G>C) c.11338G>C (p.Val3780Leu) c.11413G>C (p.Val3805Leu) n.355G>C c.11410G>C (p.Val3804Leu) c.11335G>C (p.Val3779Leu) c.11035G>C (p.Val3679Leu) c.8299G>C (p.Val2767Leu) c.7192G>C (p.Val2398Leu) c.11218G>C (p.Val3740Leu) c.6970G>C (p.Val2324Leu) c.10198G>C (p.Val3400Leu) | |
8 | g.99868411G>T | CA4825212 | VPS13B | c.*507G>T (n.*507G>T) n.11483G>T c.*7095G>T (n.*7095G>T) c.11338G>T (p.Val3780Leu) c.11413G>T (p.Val3805Leu) n.355G>T c.11410G>T (p.Val3804Leu) c.11335G>T (p.Val3779Leu) c.11035G>T (p.Val3679Leu) c.8299G>T (p.Val2767Leu) c.7192G>T (p.Val2398Leu) c.11218G>T (p.Val3740Leu) c.6970G>T (p.Val2324Leu) c.10198G>T (p.Val3400Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868412T>A | CA371792225 | VPS13B | c.*508T>A (n.*508T>A) n.11484T>A c.*7096T>A (n.*7096T>A) c.11339T>A (p.Val3780Glu) c.11414T>A (p.Val3805Glu) n.356T>A c.11411T>A (p.Val3804Glu) c.11336T>A (p.Val3779Glu) c.11036T>A (p.Val3679Glu) c.8300T>A (p.Val2767Glu) c.7193T>A (p.Val2398Glu) c.11219T>A (p.Val3740Glu) c.6971T>A (p.Val2324Glu) c.10199T>A (p.Val3400Glu) | |
8 | g.99868412T>C | CA371792220 | VPS13B | c.*508T>C (n.*508T>C) n.11484T>C c.*7096T>C (n.*7096T>C) c.11339T>C (p.Val3780Ala) c.11414T>C (p.Val3805Ala) n.356T>C c.11411T>C (p.Val3804Ala) c.11336T>C (p.Val3779Ala) c.11036T>C (p.Val3679Ala) c.8300T>C (p.Val2767Ala) c.7193T>C (p.Val2398Ala) c.11219T>C (p.Val3740Ala) c.6971T>C (p.Val2324Ala) c.10199T>C (p.Val3400Ala) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.99868412T>G | CA371792221 | VPS13B | c.*508T>G (n.*508T>G) n.11484T>G c.*7096T>G (n.*7096T>G) c.11339T>G (p.Val3780Gly) c.11414T>G (p.Val3805Gly) n.356T>G c.11411T>G (p.Val3804Gly) c.11336T>G (p.Val3779Gly) c.11036T>G (p.Val3679Gly) c.8300T>G (p.Val2767Gly) c.7193T>G (p.Val2398Gly) c.11219T>G (p.Val3740Gly) c.6971T>G (p.Val2324Gly) c.10199T>G (p.Val3400Gly) | |
8 | g.99868413G>A | CA462339359 | VPS13B | c.*509G>A (n.*509G>A) n.11485G>A c.*7097G>A (n.*7097G>A) c.11340G>A (p.Val3780=) c.11415G>A (p.Val3805=) n.357G>A c.11412G>A (p.Val3804=) c.11337G>A (p.Val3779=) c.11037G>A (p.Val3679=) c.8301G>A (p.Val2767=) c.7194G>A (p.Val2398=) c.11220G>A (p.Val3740=) c.6972G>A (p.Val2324=) c.10200G>A (p.Val3400=) | |
8 | g.99868413G>C | CA462339360 | VPS13B | c.*509G>C (n.*509G>C) n.11485G>C c.*7097G>C (n.*7097G>C) c.11340G>C (p.Val3780=) c.11415G>C (p.Val3805=) n.357G>C c.11412G>C (p.Val3804=) c.11337G>C (p.Val3779=) c.11037G>C (p.Val3679=) c.8301G>C (p.Val2767=) c.7194G>C (p.Val2398=) c.11220G>C (p.Val3740=) c.6972G>C (p.Val2324=) c.10200G>C (p.Val3400=) | |
8 | g.99868413G>T | CA462339361 | VPS13B | c.*509G>T (n.*509G>T) n.11485G>T c.*7097G>T (n.*7097G>T) c.11340G>T (p.Val3780=) c.11415G>T (p.Val3805=) n.357G>T c.11412G>T (p.Val3804=) c.11337G>T (p.Val3779=) c.11037G>T (p.Val3679=) c.8301G>T (p.Val2767=) c.7194G>T (p.Val2398=) c.11220G>T (p.Val3740=) c.6972G>T (p.Val2324=) c.10200G>T (p.Val3400=) | |
8 | g.99868414T>A | CA371792229 | VPS13B | c.*510T>A (n.*510T>A) n.11486T>A c.*7098T>A (n.*7098T>A) c.11341T>A (p.Phe3781Ile) c.11416T>A (p.Phe3806Ile) n.358T>A c.11413T>A (p.Phe3805Ile) c.11338T>A (p.Phe3780Ile) c.11038T>A (p.Phe3680Ile) c.8302T>A (p.Phe2768Ile) c.7195T>A (p.Phe2399Ile) c.11221T>A (p.Phe3741Ile) c.6973T>A (p.Phe2325Ile) c.10201T>A (p.Phe3401Ile) | |
8 | g.99868414T>C | CA371792232 | VPS13B | c.*510T>C (n.*510T>C) n.11486T>C c.*7098T>C (n.*7098T>C) c.11341T>C (p.Phe3781Leu) c.11416T>C (p.Phe3806Leu) n.358T>C c.11413T>C (p.Phe3805Leu) c.11338T>C (p.Phe3780Leu) c.11038T>C (p.Phe3680Leu) c.8302T>C (p.Phe2768Leu) c.7195T>C (p.Phe2399Leu) c.11221T>C (p.Phe3741Leu) c.6973T>C (p.Phe2325Leu) c.10201T>C (p.Phe3401Leu) | gnomAD v4 |
8 | g.99868414T>G | CA371792233 | VPS13B | c.*510T>G (n.*510T>G) n.11486T>G c.*7098T>G (n.*7098T>G) c.11341T>G (p.Phe3781Val) c.11416T>G (p.Phe3806Val) n.358T>G c.11413T>G (p.Phe3805Val) c.11338T>G (p.Phe3780Val) c.11038T>G (p.Phe3680Val) c.8302T>G (p.Phe2768Val) c.7195T>G (p.Phe2399Val) c.11221T>G (p.Phe3741Val) c.6973T>G (p.Phe2325Val) c.10201T>G (p.Phe3401Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868415T>A | CA371792238 | VPS13B | c.*511T>A (n.*511T>A) n.11487T>A c.*7099T>A (n.*7099T>A) c.11342T>A (p.Phe3781Tyr) c.11417T>A (p.Phe3806Tyr) n.359T>A c.11414T>A (p.Phe3805Tyr) c.11339T>A (p.Phe3780Tyr) c.11039T>A (p.Phe3680Tyr) c.8303T>A (p.Phe2768Tyr) c.7196T>A (p.Phe2399Tyr) c.11222T>A (p.Phe3741Tyr) c.6974T>A (p.Phe2325Tyr) c.10202T>A (p.Phe3401Tyr) | |
8 | g.99868415T>C | CA371792240 | VPS13B | c.*511T>C (n.*511T>C) n.11487T>C c.*7099T>C (n.*7099T>C) c.11342T>C (p.Phe3781Ser) c.11417T>C (p.Phe3806Ser) n.359T>C c.11414T>C (p.Phe3805Ser) c.11339T>C (p.Phe3780Ser) c.11039T>C (p.Phe3680Ser) c.8303T>C (p.Phe2768Ser) c.7196T>C (p.Phe2399Ser) c.11222T>C (p.Phe3741Ser) c.6974T>C (p.Phe2325Ser) c.10202T>C (p.Phe3401Ser) | |
8 | g.99868415T>G | CA371792242 | VPS13B | c.*511T>G (n.*511T>G) n.11487T>G c.*7099T>G (n.*7099T>G) c.11342T>G (p.Phe3781Cys) c.11417T>G (p.Phe3806Cys) n.359T>G c.11414T>G (p.Phe3805Cys) c.11339T>G (p.Phe3780Cys) c.11039T>G (p.Phe3680Cys) c.8303T>G (p.Phe2768Cys) c.7196T>G (p.Phe2399Cys) c.11222T>G (p.Phe3741Cys) c.6974T>G (p.Phe2325Cys) c.10202T>G (p.Phe3401Cys) | |
8 | g.99868416C>A | CA371792249 | VPS13B | c.*512C>A (n.*512C>A) n.11488C>A c.*7100C>A (n.*7100C>A) c.11343C>A (p.Phe3781Leu) c.11418C>A (p.Phe3806Leu) n.360C>A c.11415C>A (p.Phe3805Leu) c.11340C>A (p.Phe3780Leu) c.11040C>A (p.Phe3680Leu) c.8304C>A (p.Phe2768Leu) c.7197C>A (p.Phe2399Leu) c.11223C>A (p.Phe3741Leu) c.6975C>A (p.Phe2325Leu) c.10203C>A (p.Phe3401Leu) | |
8 | g.99868416C>G | CA371792246 | VPS13B | c.*512C>G (n.*512C>G) n.11488C>G c.*7100C>G (n.*7100C>G) c.11343C>G (p.Phe3781Leu) c.11418C>G (p.Phe3806Leu) n.360C>G c.11415C>G (p.Phe3805Leu) c.11340C>G (p.Phe3780Leu) c.11040C>G (p.Phe3680Leu) c.8304C>G (p.Phe2768Leu) c.7197C>G (p.Phe2399Leu) c.11223C>G (p.Phe3741Leu) c.6975C>G (p.Phe2325Leu) c.10203C>G (p.Phe3401Leu) | |
8 | g.99868416C>T | CA462339368 | VPS13B | c.*512C>T (n.*512C>T) n.11488C>T c.*7100C>T (n.*7100C>T) c.11343C>T (p.Phe3781=) c.11418C>T (p.Phe3806=) n.360C>T c.11415C>T (p.Phe3805=) c.11340C>T (p.Phe3780=) c.11040C>T (p.Phe3680=) c.8304C>T (p.Phe2768=) c.7197C>T (p.Phe2399=) c.11223C>T (p.Phe3741=) c.6975C>T (p.Phe2325=) c.10203C>T (p.Phe3401=) | |
8 | g.99868417A>C | CA371792252 | VPS13B | c.*513A>C (n.*513A>C) n.11489A>C c.*7101A>C (n.*7101A>C) c.11344A>C (p.Thr3782Pro) c.11419A>C (p.Thr3807Pro) n.361A>C c.11416A>C (p.Thr3806Pro) c.11341A>C (p.Thr3781Pro) c.11041A>C (p.Thr3681Pro) c.8305A>C (p.Thr2769Pro) c.7198A>C (p.Thr2400Pro) c.11224A>C (p.Thr3742Pro) c.6976A>C (p.Thr2326Pro) c.10204A>C (p.Thr3402Pro) | |
8 | g.99868417A>G | CA371792254 | VPS13B | c.*513A>G (n.*513A>G) n.11489A>G c.*7101A>G (n.*7101A>G) c.11344A>G (p.Thr3782Ala) c.11419A>G (p.Thr3807Ala) n.361A>G c.11416A>G (p.Thr3806Ala) c.11341A>G (p.Thr3781Ala) c.11041A>G (p.Thr3681Ala) c.8305A>G (p.Thr2769Ala) c.7198A>G (p.Thr2400Ala) c.11224A>G (p.Thr3742Ala) c.6976A>G (p.Thr2326Ala) c.10204A>G (p.Thr3402Ala) | |
8 | g.99868417A>T | CA371792259 | VPS13B | c.*513A>T (n.*513A>T) n.11489A>T c.*7101A>T (n.*7101A>T) c.11344A>T (p.Thr3782Ser) c.11419A>T (p.Thr3807Ser) n.361A>T c.11416A>T (p.Thr3806Ser) c.11341A>T (p.Thr3781Ser) c.11041A>T (p.Thr3681Ser) c.8305A>T (p.Thr2769Ser) c.7198A>T (p.Thr2400Ser) c.11224A>T (p.Thr3742Ser) c.6976A>T (p.Thr2326Ser) c.10204A>T (p.Thr3402Ser) | |
8 | g.99868418C>A | CA371792262 | VPS13B | c.*514C>A (n.*514C>A) n.11490C>A c.*7102C>A (n.*7102C>A) c.11345C>A (p.Thr3782Lys) c.11420C>A (p.Thr3807Lys) n.362C>A c.11417C>A (p.Thr3806Lys) c.11342C>A (p.Thr3781Lys) c.11042C>A (p.Thr3681Lys) c.8306C>A (p.Thr2769Lys) c.7199C>A (p.Thr2400Lys) c.11225C>A (p.Thr3742Lys) c.6977C>A (p.Thr2326Lys) c.10205C>A (p.Thr3402Lys) | |
8 | g.99868418C>G | CA371792264 | VPS13B | c.*514C>G (n.*514C>G) n.11490C>G c.*7102C>G (n.*7102C>G) c.11345C>G (p.Thr3782Arg) c.11420C>G (p.Thr3807Arg) n.362C>G c.11417C>G (p.Thr3806Arg) c.11342C>G (p.Thr3781Arg) c.11042C>G (p.Thr3681Arg) c.8306C>G (p.Thr2769Arg) c.7199C>G (p.Thr2400Arg) c.11225C>G (p.Thr3742Arg) c.6977C>G (p.Thr2326Arg) c.10205C>G (p.Thr3402Arg) | |
8 | g.99868418C>T | CA371792266 | VPS13B | c.*514C>T (n.*514C>T) n.11490C>T c.*7102C>T (n.*7102C>T) c.11345C>T (p.Thr3782Ile) c.11420C>T (p.Thr3807Ile) n.362C>T c.11417C>T (p.Thr3806Ile) c.11342C>T (p.Thr3781Ile) c.11042C>T (p.Thr3681Ile) c.8306C>T (p.Thr2769Ile) c.7199C>T (p.Thr2400Ile) c.11225C>T (p.Thr3742Ile) c.6977C>T (p.Thr2326Ile) c.10205C>T (p.Thr3402Ile) | |
8 | g.99868419A>C | CA462339377 | VPS13B | c.*515A>C (n.*515A>C) n.11491A>C c.*7103A>C (n.*7103A>C) c.11346A>C (p.Thr3782=) c.11421A>C (p.Thr3807=) n.363A>C c.11418A>C (p.Thr3806=) c.11343A>C (p.Thr3781=) c.11043A>C (p.Thr3681=) c.8307A>C (p.Thr2769=) c.7200A>C (p.Thr2400=) c.11226A>C (p.Thr3742=) c.6978A>C (p.Thr2326=) c.10206A>C (p.Thr3402=) | |
8 | g.99868419A>G | CA462339375 | VPS13B | c.*515A>G (n.*515A>G) n.11491A>G c.*7103A>G (n.*7103A>G) c.11346A>G (p.Thr3782=) c.11421A>G (p.Thr3807=) n.363A>G c.11418A>G (p.Thr3806=) c.11343A>G (p.Thr3781=) c.11043A>G (p.Thr3681=) c.8307A>G (p.Thr2769=) c.7200A>G (p.Thr2400=) c.11226A>G (p.Thr3742=) c.6978A>G (p.Thr2326=) c.10206A>G (p.Thr3402=) | |
8 | g.99868419A>T | CA462339374 | VPS13B | c.*515A>T (n.*515A>T) n.11491A>T c.*7103A>T (n.*7103A>T) c.11346A>T (p.Thr3782=) c.11421A>T (p.Thr3807=) n.363A>T c.11418A>T (p.Thr3806=) c.11343A>T (p.Thr3781=) c.11043A>T (p.Thr3681=) c.8307A>T (p.Thr2769=) c.7200A>T (p.Thr2400=) c.11226A>T (p.Thr3742=) c.6978A>T (p.Thr2326=) c.10206A>T (p.Thr3402=) | |
8 | g.99868420A>C | CA371792270 | VPS13B | c.*516A>C (n.*516A>C) n.11492A>C c.*7104A>C (n.*7104A>C) c.11347A>C (p.Lys3783Gln) c.11422A>C (p.Lys3808Gln) n.364A>C c.11419A>C (p.Lys3807Gln) c.11344A>C (p.Lys3782Gln) c.11044A>C (p.Lys3682Gln) c.8308A>C (p.Lys2770Gln) c.7201A>C (p.Lys2401Gln) c.11227A>C (p.Lys3743Gln) c.6979A>C (p.Lys2327Gln) c.10207A>C (p.Lys3403Gln) | |
8 | g.99868420A>G | CA371792275 | VPS13B | c.*516A>G (n.*516A>G) n.11492A>G c.*7104A>G (n.*7104A>G) c.11347A>G (p.Lys3783Glu) c.11422A>G (p.Lys3808Glu) n.364A>G c.11419A>G (p.Lys3807Glu) c.11344A>G (p.Lys3782Glu) c.11044A>G (p.Lys3682Glu) c.8308A>G (p.Lys2770Glu) c.7201A>G (p.Lys2401Glu) c.11227A>G (p.Lys3743Glu) c.6979A>G (p.Lys2327Glu) c.10207A>G (p.Lys3403Glu) | |
8 | g.99868420A>T | CA371792272 | VPS13B | c.*516A>T (n.*516A>T) n.11492A>T c.*7104A>T (n.*7104A>T) c.11347A>T (p.Lys3783Ter) c.11422A>T (p.Lys3808Ter) n.364A>T c.11419A>T (p.Lys3807Ter) c.11344A>T (p.Lys3782Ter) c.11044A>T (p.Lys3682Ter) c.8308A>T (p.Lys2770Ter) c.7201A>T (p.Lys2401Ter) c.11227A>T (p.Lys3743Ter) c.6979A>T (p.Lys2327Ter) c.10207A>T (p.Lys3403Ter) | |
8 | g.99868421A>C | CA371792279 | VPS13B | c.*517A>C (n.*517A>C) n.11493A>C c.*7105A>C (n.*7105A>C) c.11348A>C (p.Lys3783Thr) c.11423A>C (p.Lys3808Thr) n.365A>C c.11420A>C (p.Lys3807Thr) c.11345A>C (p.Lys3782Thr) c.11045A>C (p.Lys3682Thr) c.8309A>C (p.Lys2770Thr) c.7202A>C (p.Lys2401Thr) c.11228A>C (p.Lys3743Thr) c.6980A>C (p.Lys2327Thr) c.10208A>C (p.Lys3403Thr) | gnomAD v4 |
8 | g.99868421A>G | CA371792281 | VPS13B | c.*517A>G (n.*517A>G) n.11493A>G c.*7105A>G (n.*7105A>G) c.11348A>G (p.Lys3783Arg) c.11423A>G (p.Lys3808Arg) n.365A>G c.11420A>G (p.Lys3807Arg) c.11345A>G (p.Lys3782Arg) c.11045A>G (p.Lys3682Arg) c.8309A>G (p.Lys2770Arg) c.7202A>G (p.Lys2401Arg) c.11228A>G (p.Lys3743Arg) c.6980A>G (p.Lys2327Arg) c.10208A>G (p.Lys3403Arg) | |
8 | g.99868421A>T | CA371792283 | VPS13B | c.*517A>T (n.*517A>T) n.11493A>T c.*7105A>T (n.*7105A>T) c.11348A>T (p.Lys3783Met) c.11423A>T (p.Lys3808Met) n.365A>T c.11420A>T (p.Lys3807Met) c.11345A>T (p.Lys3782Met) c.11045A>T (p.Lys3682Met) c.8309A>T (p.Lys2770Met) c.7202A>T (p.Lys2401Met) c.11228A>T (p.Lys3743Met) c.6980A>T (p.Lys2327Met) c.10208A>T (p.Lys3403Met) | |
8 | g.99868422G>A | CA462339386 | VPS13B | c.*518G>A (n.*518G>A) n.11494G>A c.*7106G>A (n.*7106G>A) c.11349G>A (p.Lys3783=) c.11424G>A (p.Lys3808=) n.366G>A c.11421G>A (p.Lys3807=) c.11346G>A (p.Lys3782=) c.11046G>A (p.Lys3682=) c.8310G>A (p.Lys2770=) c.7203G>A (p.Lys2401=) c.11229G>A (p.Lys3743=) c.6981G>A (p.Lys2327=) c.10209G>A (p.Lys3403=) | |
8 | g.99868422G>C | CA371792287 | VPS13B | c.*518G>C (n.*518G>C) n.11494G>C c.*7106G>C (n.*7106G>C) c.11349G>C (p.Lys3783Asn) c.11424G>C (p.Lys3808Asn) n.366G>C c.11421G>C (p.Lys3807Asn) c.11346G>C (p.Lys3782Asn) c.11046G>C (p.Lys3682Asn) c.8310G>C (p.Lys2770Asn) c.7203G>C (p.Lys2401Asn) c.11229G>C (p.Lys3743Asn) c.6981G>C (p.Lys2327Asn) c.10209G>C (p.Lys3403Asn) | |
8 | g.99868422G>T | CA371792289 | VPS13B | c.*518G>T (n.*518G>T) n.11494G>T c.*7106G>T (n.*7106G>T) c.11349G>T (p.Lys3783Asn) c.11424G>T (p.Lys3808Asn) n.366G>T c.11421G>T (p.Lys3807Asn) c.11346G>T (p.Lys3782Asn) c.11046G>T (p.Lys3682Asn) c.8310G>T (p.Lys2770Asn) c.7203G>T (p.Lys2401Asn) c.11229G>T (p.Lys3743Asn) c.6981G>T (p.Lys2327Asn) c.10209G>T (p.Lys3403Asn) | dbSNP |
8 | g.99868423C>A | CA371792290 | VPS13B | c.*519C>A (n.*519C>A) n.11495C>A c.*7107C>A (n.*7107C>A) c.11350C>A (p.Pro3784Thr) c.11425C>A (p.Pro3809Thr) n.367C>A c.11422C>A (p.Pro3808Thr) c.11347C>A (p.Pro3783Thr) c.11047C>A (p.Pro3683Thr) c.8311C>A (p.Pro2771Thr) c.7204C>A (p.Pro2402Thr) c.11230C>A (p.Pro3744Thr) c.6982C>A (p.Pro2328Thr) c.10210C>A (p.Pro3404Thr) | gnomAD v4 |
8 | g.99868423C>G | CA371792292 | VPS13B | c.*519C>G (n.*519C>G) n.11495C>G c.*7107C>G (n.*7107C>G) c.11350C>G (p.Pro3784Ala) c.11425C>G (p.Pro3809Ala) n.367C>G c.11422C>G (p.Pro3808Ala) c.11347C>G (p.Pro3783Ala) c.11047C>G (p.Pro3683Ala) c.8311C>G (p.Pro2771Ala) c.7204C>G (p.Pro2402Ala) c.11230C>G (p.Pro3744Ala) c.6982C>G (p.Pro2328Ala) c.10210C>G (p.Pro3404Ala) | |
8 | g.99868423C>T | CA371792294 | VPS13B | c.*519C>T (n.*519C>T) n.11495C>T c.*7107C>T (n.*7107C>T) c.11350C>T (p.Pro3784Ser) c.11425C>T (p.Pro3809Ser) n.367C>T c.11422C>T (p.Pro3808Ser) c.11347C>T (p.Pro3783Ser) c.11047C>T (p.Pro3683Ser) c.8311C>T (p.Pro2771Ser) c.7204C>T (p.Pro2402Ser) c.11230C>T (p.Pro3744Ser) c.6982C>T (p.Pro2328Ser) c.10210C>T (p.Pro3404Ser) | |
8 | g.99868425dup | CA2697550081 | VPS13B | c.*521dup (n.*521dup) n.11497dup c.*7109dup (n.*7109dup) c.11352dup (p.Ile3785HisfsTer6) c.11427dup (p.Ile3810HisfsTer6) n.369dup c.11424dup (p.Ile3809HisfsTer6) c.11349dup (p.Ile3784HisfsTer6) c.11049dup (p.Ile3684HisfsTer6) c.8313dup (p.Ile2772HisfsTer6) c.7206dup (p.Ile2403HisfsTer6) c.11232dup (p.Ile3745HisfsTer6) c.6984dup (p.Ile2329HisfsTer6) c.10212dup (p.Ile3405HisfsTer6) | ClinVar |
8 | g.99868424C>A | CA371792296 | VPS13B | c.*520C>A (n.*520C>A) n.11496C>A c.*7108C>A (n.*7108C>A) c.11351C>A (p.Pro3784His) c.11426C>A (p.Pro3809His) n.368C>A c.11423C>A (p.Pro3808His) c.11348C>A (p.Pro3783His) c.11048C>A (p.Pro3683His) c.8312C>A (p.Pro2771His) c.7205C>A (p.Pro2402His) c.11231C>A (p.Pro3744His) c.6983C>A (p.Pro2328His) c.10211C>A (p.Pro3404His) | |
8 | g.99868424C>G | CA371792299 | VPS13B | c.*520C>G (n.*520C>G) n.11496C>G c.*7108C>G (n.*7108C>G) c.11351C>G (p.Pro3784Arg) c.11426C>G (p.Pro3809Arg) n.368C>G c.11423C>G (p.Pro3808Arg) c.11348C>G (p.Pro3783Arg) c.11048C>G (p.Pro3683Arg) c.8312C>G (p.Pro2771Arg) c.7205C>G (p.Pro2402Arg) c.11231C>G (p.Pro3744Arg) c.6983C>G (p.Pro2328Arg) c.10211C>G (p.Pro3404Arg) | |
8 | g.99868424C>T | CA182328694 | VPS13B | c.*520C>T (n.*520C>T) n.11496C>T c.*7108C>T (n.*7108C>T) c.11351C>T (p.Pro3784Leu) c.11426C>T (p.Pro3809Leu) n.368C>T c.11423C>T (p.Pro3808Leu) c.11348C>T (p.Pro3783Leu) c.11048C>T (p.Pro3683Leu) c.8312C>T (p.Pro2771Leu) c.7205C>T (p.Pro2402Leu) c.11231C>T (p.Pro3744Leu) c.6983C>T (p.Pro2328Leu) c.10211C>T (p.Pro3404Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868425C>A | CA462339394 | VPS13B | c.*521C>A (n.*521C>A) n.11497C>A c.*7109C>A (n.*7109C>A) c.11352C>A (p.Pro3784=) c.11427C>A (p.Pro3809=) n.369C>A c.11424C>A (p.Pro3808=) c.11349C>A (p.Pro3783=) c.11049C>A (p.Pro3683=) c.8313C>A (p.Pro2771=) c.7206C>A (p.Pro2402=) c.11232C>A (p.Pro3744=) c.6984C>A (p.Pro2328=) c.10212C>A (p.Pro3404=) | |
8 | g.99868425C>G | CA462339396 | VPS13B | c.*521C>G (n.*521C>G) n.11497C>G c.*7109C>G (n.*7109C>G) c.11352C>G (p.Pro3784=) c.11427C>G (p.Pro3809=) n.369C>G c.11424C>G (p.Pro3808=) c.11349C>G (p.Pro3783=) c.11049C>G (p.Pro3683=) c.8313C>G (p.Pro2771=) c.7206C>G (p.Pro2402=) c.11232C>G (p.Pro3744=) c.6984C>G (p.Pro2328=) c.10212C>G (p.Pro3404=) | |
8 | g.99868425C>T | CA462339397 | VPS13B | c.*521C>T (n.*521C>T) n.11497C>T c.*7109C>T (n.*7109C>T) c.11352C>T (p.Pro3784=) c.11427C>T (p.Pro3809=) n.369C>T c.11424C>T (p.Pro3808=) c.11349C>T (p.Pro3783=) c.11049C>T (p.Pro3683=) c.8313C>T (p.Pro2771=) c.7206C>T (p.Pro2402=) c.11232C>T (p.Pro3744=) c.6984C>T (p.Pro2328=) c.10212C>T (p.Pro3404=) | |
8 | g.99868426A>C | CA371792305 | VPS13B | c.*522A>C (n.*522A>C) n.11498A>C c.*7110A>C (n.*7110A>C) c.11353A>C (p.Ile3785Leu) c.11428A>C (p.Ile3810Leu) n.370A>C c.11425A>C (p.Ile3809Leu) c.11350A>C (p.Ile3784Leu) c.11050A>C (p.Ile3684Leu) c.8314A>C (p.Ile2772Leu) c.7207A>C (p.Ile2403Leu) c.11233A>C (p.Ile3745Leu) c.6985A>C (p.Ile2329Leu) c.10213A>C (p.Ile3405Leu) | |
8 | g.99868426A>G | CA371792310 | VPS13B | c.*522A>G (n.*522A>G) n.11498A>G c.*7110A>G (n.*7110A>G) c.11353A>G (p.Ile3785Val) c.11428A>G (p.Ile3810Val) n.370A>G c.11425A>G (p.Ile3809Val) c.11350A>G (p.Ile3784Val) c.11050A>G (p.Ile3684Val) c.8314A>G (p.Ile2772Val) c.7207A>G (p.Ile2403Val) c.11233A>G (p.Ile3745Val) c.6985A>G (p.Ile2329Val) c.10213A>G (p.Ile3405Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868426A>T | CA371792307 | VPS13B | c.*522A>T (n.*522A>T) n.11498A>T c.*7110A>T (n.*7110A>T) c.11353A>T (p.Ile3785Phe) c.11428A>T (p.Ile3810Phe) n.370A>T c.11425A>T (p.Ile3809Phe) c.11350A>T (p.Ile3784Phe) c.11050A>T (p.Ile3684Phe) c.8314A>T (p.Ile2772Phe) c.7207A>T (p.Ile2403Phe) c.11233A>T (p.Ile3745Phe) c.6985A>T (p.Ile2329Phe) c.10213A>T (p.Ile3405Phe) | |
8 | g.99868427T>A | CA371792312 | VPS13B | c.*523T>A (n.*523T>A) n.11499T>A c.*7111T>A (n.*7111T>A) c.11354T>A (p.Ile3785Asn) c.11429T>A (p.Ile3810Asn) n.371T>A c.11426T>A (p.Ile3809Asn) c.11351T>A (p.Ile3784Asn) c.11051T>A (p.Ile3684Asn) c.8315T>A (p.Ile2772Asn) c.7208T>A (p.Ile2403Asn) c.11234T>A (p.Ile3745Asn) c.6986T>A (p.Ile2329Asn) c.10214T>A (p.Ile3405Asn) | |
8 | g.99868427T>C | CA371792316 | VPS13B | c.*523T>C (n.*523T>C) n.11499T>C c.*7111T>C (n.*7111T>C) c.11354T>C (p.Ile3785Thr) c.11429T>C (p.Ile3810Thr) n.371T>C c.11426T>C (p.Ile3809Thr) c.11351T>C (p.Ile3784Thr) c.11051T>C (p.Ile3684Thr) c.8315T>C (p.Ile2772Thr) c.7208T>C (p.Ile2403Thr) c.11234T>C (p.Ile3745Thr) c.6986T>C (p.Ile2329Thr) c.10214T>C (p.Ile3405Thr) | gnomAD v4 |
8 | g.99868427T>G | CA371792314 | VPS13B | c.*523T>G (n.*523T>G) n.11499T>G c.*7111T>G (n.*7111T>G) c.11354T>G (p.Ile3785Ser) c.11429T>G (p.Ile3810Ser) n.371T>G c.11426T>G (p.Ile3809Ser) c.11351T>G (p.Ile3784Ser) c.11051T>G (p.Ile3684Ser) c.8315T>G (p.Ile2772Ser) c.7208T>G (p.Ile2403Ser) c.11234T>G (p.Ile3745Ser) c.6986T>G (p.Ile2329Ser) c.10214T>G (p.Ile3405Ser) | |
8 | g.99868428C>A | CA462339401 | VPS13B | c.*524C>A (n.*524C>A) n.11500C>A c.*7112C>A (n.*7112C>A) c.11355C>A (p.Ile3785=) c.11430C>A (p.Ile3810=) n.372C>A c.11427C>A (p.Ile3809=) c.11352C>A (p.Ile3784=) c.11052C>A (p.Ile3684=) c.8316C>A (p.Ile2772=) c.7209C>A (p.Ile2403=) c.11235C>A (p.Ile3745=) c.6987C>A (p.Ile2329=) c.10215C>A (p.Ile3405=) | ClinVar |
8 | g.99868428C>G | CA371792320 | VPS13B | c.*524C>G (n.*524C>G) n.11500C>G c.*7112C>G (n.*7112C>G) c.11355C>G (p.Ile3785Met) c.11430C>G (p.Ile3810Met) n.372C>G c.11427C>G (p.Ile3809Met) c.11352C>G (p.Ile3784Met) c.11052C>G (p.Ile3684Met) c.8316C>G (p.Ile2772Met) c.7209C>G (p.Ile2403Met) c.11235C>G (p.Ile3745Met) c.6987C>G (p.Ile2329Met) c.10215C>G (p.Ile3405Met) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868428C>T | CA182328695 | VPS13B | c.*524C>T (n.*524C>T) n.11500C>T c.*7112C>T (n.*7112C>T) c.11355C>T (p.Ile3785=) c.11430C>T (p.Ile3810=) n.372C>T c.11427C>T (p.Ile3809=) c.11352C>T (p.Ile3784=) c.11052C>T (p.Ile3684=) c.8316C>T (p.Ile2772=) c.7209C>T (p.Ile2403=) c.11235C>T (p.Ile3745=) c.6987C>T (p.Ile2329=) c.10215C>T (p.Ile3405=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868429G>A | CA4825213 | VPS13B | c.*525G>A (n.*525G>A) n.11501G>A c.*7113G>A (n.*7113G>A) c.11356G>A (p.Gly3786Arg) c.11431G>A (p.Gly3811Arg) n.373G>A c.11428G>A (p.Gly3810Arg) c.11353G>A (p.Gly3785Arg) c.11053G>A (p.Gly3685Arg) c.8317G>A (p.Gly2773Arg) c.7210G>A (p.Gly2404Arg) c.11236G>A (p.Gly3746Arg) c.6988G>A (p.Gly2330Arg) c.10216G>A (p.Gly3406Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868429G>C | CA371792326 | VPS13B | c.*525G>C (n.*525G>C) n.11501G>C c.*7113G>C (n.*7113G>C) c.11356G>C (p.Gly3786Arg) c.11431G>C (p.Gly3811Arg) n.373G>C c.11428G>C (p.Gly3810Arg) c.11353G>C (p.Gly3785Arg) c.11053G>C (p.Gly3685Arg) c.8317G>C (p.Gly2773Arg) c.7210G>C (p.Gly2404Arg) c.11236G>C (p.Gly3746Arg) c.6988G>C (p.Gly2330Arg) c.10216G>C (p.Gly3406Arg) | |
8 | g.99868429G>T | CA371792331 | VPS13B | c.*525G>T (n.*525G>T) n.11501G>T c.*7113G>T (n.*7113G>T) c.11356G>T (p.Gly3786Ter) c.11431G>T (p.Gly3811Ter) n.373G>T c.11428G>T (p.Gly3810Ter) c.11353G>T (p.Gly3785Ter) c.11053G>T (p.Gly3685Ter) c.8317G>T (p.Gly2773Ter) c.7210G>T (p.Gly2404Ter) c.11236G>T (p.Gly3746Ter) c.6988G>T (p.Gly2330Ter) c.10216G>T (p.Gly3406Ter) | |
8 | g.99868430G>A | CA371792345 | VPS13B | c.*526G>A (n.*526G>A) n.11502G>A c.*7114G>A (n.*7114G>A) c.11357G>A (p.Gly3786Glu) c.11432G>A (p.Gly3811Glu) n.374G>A c.11429G>A (p.Gly3810Glu) c.11354G>A (p.Gly3785Glu) c.11054G>A (p.Gly3685Glu) c.8318G>A (p.Gly2773Glu) c.7211G>A (p.Gly2404Glu) c.11237G>A (p.Gly3746Glu) c.6989G>A (p.Gly2330Glu) c.10217G>A (p.Gly3406Glu) | |
8 | g.99868430G>C | CA371792347 | VPS13B | c.*526G>C (n.*526G>C) n.11502G>C c.*7114G>C (n.*7114G>C) c.11357G>C (p.Gly3786Ala) c.11432G>C (p.Gly3811Ala) n.374G>C c.11429G>C (p.Gly3810Ala) c.11354G>C (p.Gly3785Ala) c.11054G>C (p.Gly3685Ala) c.8318G>C (p.Gly2773Ala) c.7211G>C (p.Gly2404Ala) c.11237G>C (p.Gly3746Ala) c.6989G>C (p.Gly2330Ala) c.10217G>C (p.Gly3406Ala) | dbSNP |
8 | g.99868430G>T | CA371792348 | VPS13B | c.*526G>T (n.*526G>T) n.11502G>T c.*7114G>T (n.*7114G>T) c.11357G>T (p.Gly3786Val) c.11432G>T (p.Gly3811Val) n.374G>T c.11429G>T (p.Gly3810Val) c.11354G>T (p.Gly3785Val) c.11054G>T (p.Gly3685Val) c.8318G>T (p.Gly2773Val) c.7211G>T (p.Gly2404Val) c.11237G>T (p.Gly3746Val) c.6989G>T (p.Gly2330Val) c.10217G>T (p.Gly3406Val) | |
8 | g.99868431_99868432del | CA913128149 | VPS13B | c.*527_*528del (n.*527_*528del) n.11503_11504del c.*7115_*7116del (n.*7115_*7116del) c.11358_11359del (p.Gly3787SerfsTer3) c.11433_11434del (p.Gly3812SerfsTer3) n.375_376del c.11430_11431del (p.Gly3811SerfsTer3) c.11355_11356del (p.Gly3786SerfsTer3) c.11055_11056del (p.Gly3686SerfsTer3) c.8319_8320del (p.Gly2774SerfsTer3) c.7212_7213del (p.Gly2405SerfsTer3) c.11238_11239del (p.Gly3747SerfsTer3) c.6990_6991del (p.Gly2331SerfsTer3) c.10218_10219del (p.Gly3407SerfsTer3) | |
8 | g.99868431A>C | CA462339405 | VPS13B | c.*527A>C (n.*527A>C) n.11503A>C c.*7115A>C (n.*7115A>C) c.11358A>C (p.Gly3786=) c.11433A>C (p.Gly3811=) n.375A>C c.11430A>C (p.Gly3810=) c.11355A>C (p.Gly3785=) c.11055A>C (p.Gly3685=) c.8319A>C (p.Gly2773=) c.7212A>C (p.Gly2404=) c.11238A>C (p.Gly3746=) c.6990A>C (p.Gly2330=) c.10218A>C (p.Gly3406=) | |
8 | g.99868431A>G | CA462339406 | VPS13B | c.*527A>G (n.*527A>G) n.11503A>G c.*7115A>G (n.*7115A>G) c.11358A>G (p.Gly3786=) c.11433A>G (p.Gly3811=) n.375A>G c.11430A>G (p.Gly3810=) c.11355A>G (p.Gly3785=) c.11055A>G (p.Gly3685=) c.8319A>G (p.Gly2773=) c.7212A>G (p.Gly2404=) c.11238A>G (p.Gly3746=) c.6990A>G (p.Gly2330=) c.10218A>G (p.Gly3406=) | |
8 | g.99868431A>T | CA462339407 | VPS13B | c.*527A>T (n.*527A>T) n.11503A>T c.*7115A>T (n.*7115A>T) c.11358A>T (p.Gly3786=) c.11433A>T (p.Gly3811=) n.375A>T c.11430A>T (p.Gly3810=) c.11355A>T (p.Gly3785=) c.11055A>T (p.Gly3685=) c.8319A>T (p.Gly2773=) c.7212A>T (p.Gly2404=) c.11238A>T (p.Gly3746=) c.6990A>T (p.Gly2330=) c.10218A>T (p.Gly3406=) | |
8 | g.99868432G>A | CA371792352 | VPS13B | c.*528G>A (n.*528G>A) n.11504G>A c.*7116G>A (n.*7116G>A) c.11359G>A (p.Gly3787Arg) c.11434G>A (p.Gly3812Arg) n.376G>A c.11431G>A (p.Gly3811Arg) c.11356G>A (p.Gly3786Arg) c.11056G>A (p.Gly3686Arg) c.8320G>A (p.Gly2774Arg) c.7213G>A (p.Gly2405Arg) c.11239G>A (p.Gly3747Arg) c.6991G>A (p.Gly2331Arg) c.10219G>A (p.Gly3407Arg) | |
8 | g.99868432G>C | CA371792355 | VPS13B | c.*528G>C (n.*528G>C) n.11504G>C c.*7116G>C (n.*7116G>C) c.11359G>C (p.Gly3787Arg) c.11434G>C (p.Gly3812Arg) n.376G>C c.11431G>C (p.Gly3811Arg) c.11356G>C (p.Gly3786Arg) c.11056G>C (p.Gly3686Arg) c.8320G>C (p.Gly2774Arg) c.7213G>C (p.Gly2405Arg) c.11239G>C (p.Gly3747Arg) c.6991G>C (p.Gly2331Arg) c.10219G>C (p.Gly3407Arg) | |
8 | g.99868432G>T | CA371792357 | VPS13B | c.*528G>T (n.*528G>T) n.11504G>T c.*7116G>T (n.*7116G>T) c.11359G>T (p.Gly3787Ter) c.11434G>T (p.Gly3812Ter) n.376G>T c.11431G>T (p.Gly3811Ter) c.11356G>T (p.Gly3786Ter) c.11056G>T (p.Gly3686Ter) c.8320G>T (p.Gly2774Ter) c.7213G>T (p.Gly2405Ter) c.11239G>T (p.Gly3747Ter) c.6991G>T (p.Gly2331Ter) c.10219G>T (p.Gly3407Ter) | |
8 | g.99868433del | CA658821919 | VPS13B | c.*529del (n.*529del) n.11505del c.*7117del (n.*7117del) c.11360del (p.Gly3787GlufsTer?) c.11435del (p.Gly3812GlufsTer?) n.377del c.11432del (p.Gly3811GlufsTer?) c.11357del (p.Gly3786GlufsTer?) c.11057del (p.Gly3686GlufsTer?) c.8321del (p.Gly2774GlufsTer?) c.7214del (p.Gly2405GlufsTer?) c.11240del (p.Gly3747GlufsTer?) c.6992del (p.Gly2331GlufsTer?) c.10220del (p.Gly3407GlufsTer?) | ClinVar dbSNP |
8 | g.99868433G>A | CA182328697 | VPS13B | c.*529G>A (n.*529G>A) n.11505G>A c.*7117G>A (n.*7117G>A) c.11360G>A (p.Gly3787Glu) c.11435G>A (p.Gly3812Glu) n.377G>A c.11432G>A (p.Gly3811Glu) c.11357G>A (p.Gly3786Glu) c.11057G>A (p.Gly3686Glu) c.8321G>A (p.Gly2774Glu) c.7214G>A (p.Gly2405Glu) c.11240G>A (p.Gly3747Glu) c.6992G>A (p.Gly2331Glu) c.10220G>A (p.Gly3407Glu) | ClinVar dbSNP COSMIC COSMIC |
8 | g.99868433G>C | CA371792360 | VPS13B | c.*529G>C (n.*529G>C) n.11505G>C c.*7117G>C (n.*7117G>C) c.11360G>C (p.Gly3787Ala) c.11435G>C (p.Gly3812Ala) n.377G>C c.11432G>C (p.Gly3811Ala) c.11357G>C (p.Gly3786Ala) c.11057G>C (p.Gly3686Ala) c.8321G>C (p.Gly2774Ala) c.7214G>C (p.Gly2405Ala) c.11240G>C (p.Gly3747Ala) c.6992G>C (p.Gly2331Ala) c.10220G>C (p.Gly3407Ala) | |
8 | g.99868433G>T | CA371792359 | VPS13B | c.*529G>T (n.*529G>T) n.11505G>T c.*7117G>T (n.*7117G>T) c.11360G>T (p.Gly3787Val) c.11435G>T (p.Gly3812Val) n.377G>T c.11432G>T (p.Gly3811Val) c.11357G>T (p.Gly3786Val) c.11057G>T (p.Gly3686Val) c.8321G>T (p.Gly2774Val) c.7214G>T (p.Gly2405Val) c.11240G>T (p.Gly3747Val) c.6992G>T (p.Gly2331Val) c.10220G>T (p.Gly3407Val) | |
8 | g.99868434A>C | CA462339409 | VPS13B | c.*530A>C (n.*530A>C) n.11506A>C c.*7118A>C (n.*7118A>C) c.11361A>C (p.Gly3787=) c.11436A>C (p.Gly3812=) n.378A>C c.11433A>C (p.Gly3811=) c.11358A>C (p.Gly3786=) c.11058A>C (p.Gly3686=) c.8322A>C (p.Gly2774=) c.7215A>C (p.Gly2405=) c.11241A>C (p.Gly3747=) c.6993A>C (p.Gly2331=) c.10221A>C (p.Gly3407=) | gnomAD v4 |
8 | g.99868434A>G | CA462339410 | VPS13B | c.*530A>G (n.*530A>G) n.11506A>G c.*7118A>G (n.*7118A>G) c.11361A>G (p.Gly3787=) c.11436A>G (p.Gly3812=) n.378A>G c.11433A>G (p.Gly3811=) c.11358A>G (p.Gly3786=) c.11058A>G (p.Gly3686=) c.8322A>G (p.Gly2774=) c.7215A>G (p.Gly2405=) c.11241A>G (p.Gly3747=) c.6993A>G (p.Gly2331=) c.10221A>G (p.Gly3407=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868434A>T | CA462339411 | VPS13B | c.*530A>T (n.*530A>T) n.11506A>T c.*7118A>T (n.*7118A>T) c.11361A>T (p.Gly3787=) c.11436A>T (p.Gly3812=) n.378A>T c.11433A>T (p.Gly3811=) c.11358A>T (p.Gly3786=) c.11058A>T (p.Gly3686=) c.8322A>T (p.Gly2774=) c.7215A>T (p.Gly2405=) c.11241A>T (p.Gly3747=) c.6993A>T (p.Gly2331=) c.10221A>T (p.Gly3407=) | |
8 | g.99868435G>A | CA4825214 | VPS13B | c.*531G>A (n.*531G>A) n.11507G>A c.*7119G>A (n.*7119G>A) c.11362G>A (p.Ala3788Thr) c.11437G>A (p.Ala3813Thr) n.379G>A c.11434G>A (p.Ala3812Thr) c.11359G>A (p.Ala3787Thr) c.11059G>A (p.Ala3687Thr) c.8323G>A (p.Ala2775Thr) c.7216G>A (p.Ala2406Thr) c.11242G>A (p.Ala3748Thr) c.6994G>A (p.Ala2332Thr) c.10222G>A (p.Ala3408Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868435G>C | CA371792366 | VPS13B | c.*531G>C (n.*531G>C) n.11507G>C c.*7119G>C (n.*7119G>C) c.11362G>C (p.Ala3788Pro) c.11437G>C (p.Ala3813Pro) n.379G>C c.11434G>C (p.Ala3812Pro) c.11359G>C (p.Ala3787Pro) c.11059G>C (p.Ala3687Pro) c.8323G>C (p.Ala2775Pro) c.7216G>C (p.Ala2406Pro) c.11242G>C (p.Ala3748Pro) c.6994G>C (p.Ala2332Pro) c.10222G>C (p.Ala3408Pro) | |
8 | g.99868435G>T | CA371792368 | VPS13B | c.*531G>T (n.*531G>T) n.11507G>T c.*7119G>T (n.*7119G>T) c.11362G>T (p.Ala3788Ser) c.11437G>T (p.Ala3813Ser) n.379G>T c.11434G>T (p.Ala3812Ser) c.11359G>T (p.Ala3787Ser) c.11059G>T (p.Ala3687Ser) c.8323G>T (p.Ala2775Ser) c.7216G>T (p.Ala2406Ser) c.11242G>T (p.Ala3748Ser) c.6994G>T (p.Ala2332Ser) c.10222G>T (p.Ala3408Ser) | |
8 | g.99868436C>A | CA371792371 | VPS13B | c.*532C>A (n.*532C>A) n.11508C>A c.*7120C>A (n.*7120C>A) c.11363C>A (p.Ala3788Asp) c.11438C>A (p.Ala3813Asp) n.380C>A c.11435C>A (p.Ala3812Asp) c.11360C>A (p.Ala3787Asp) c.11060C>A (p.Ala3687Asp) c.8324C>A (p.Ala2775Asp) c.7217C>A (p.Ala2406Asp) c.11243C>A (p.Ala3748Asp) c.6995C>A (p.Ala2332Asp) c.10223C>A (p.Ala3408Asp) | |
8 | g.99868436C>G | CA371792373 | VPS13B | c.*532C>G (n.*532C>G) n.11508C>G c.*7120C>G (n.*7120C>G) c.11363C>G (p.Ala3788Gly) c.11438C>G (p.Ala3813Gly) n.380C>G c.11435C>G (p.Ala3812Gly) c.11360C>G (p.Ala3787Gly) c.11060C>G (p.Ala3687Gly) c.8324C>G (p.Ala2775Gly) c.7217C>G (p.Ala2406Gly) c.11243C>G (p.Ala3748Gly) c.6995C>G (p.Ala2332Gly) c.10223C>G (p.Ala3408Gly) | |
8 | g.99868436C>T | CA371792374 | VPS13B | c.*532C>T (n.*532C>T) n.11508C>T c.*7120C>T (n.*7120C>T) c.11363C>T (p.Ala3788Val) c.11438C>T (p.Ala3813Val) n.380C>T c.11435C>T (p.Ala3812Val) c.11360C>T (p.Ala3787Val) c.11060C>T (p.Ala3687Val) c.8324C>T (p.Ala2775Val) c.7217C>T (p.Ala2406Val) c.11243C>T (p.Ala3748Val) c.6995C>T (p.Ala2332Val) c.10223C>T (p.Ala3408Val) | gnomAD v4 |
8 | g.99868437del | CA857608643 | VPS13B | c.*533del (n.*533del) n.11509del c.*7121del (n.*7121del) c.11364del (p.Ala3789LeufsTer?) c.11439del (p.Ala3814LeufsTer?) n.381del c.11436del (p.Ala3813LeufsTer?) c.11361del (p.Ala3788LeufsTer?) c.11061del (p.Ala3688LeufsTer?) c.8325del (p.Ala2776LeufsTer?) c.7218del (p.Ala2407LeufsTer?) c.11244del (p.Ala3749LeufsTer?) c.6996del (p.Ala2333LeufsTer?) c.10224del (p.Ala3409LeufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868437T>A | CA462339415 | VPS13B | c.*533T>A (n.*533T>A) n.11509T>A c.*7121T>A (n.*7121T>A) c.11364T>A (p.Ala3788=) c.11439T>A (p.Ala3813=) n.381T>A c.11436T>A (p.Ala3812=) c.11361T>A (p.Ala3787=) c.11061T>A (p.Ala3687=) c.8325T>A (p.Ala2775=) c.7218T>A (p.Ala2406=) c.11244T>A (p.Ala3748=) c.6996T>A (p.Ala2332=) c.10224T>A (p.Ala3408=) | |
8 | g.99868437T>C | CA462339414 | VPS13B | c.*533T>C (n.*533T>C) n.11509T>C c.*7121T>C (n.*7121T>C) c.11364T>C (p.Ala3788=) c.11439T>C (p.Ala3813=) n.381T>C c.11436T>C (p.Ala3812=) c.11361T>C (p.Ala3787=) c.11061T>C (p.Ala3687=) c.8325T>C (p.Ala2775=) c.7218T>C (p.Ala2406=) c.11244T>C (p.Ala3748=) c.6996T>C (p.Ala2332=) c.10224T>C (p.Ala3408=) | |
8 | g.99868437T>G | CA462339413 | VPS13B | c.*533T>G (n.*533T>G) n.11509T>G c.*7121T>G (n.*7121T>G) c.11364T>G (p.Ala3788=) c.11439T>G (p.Ala3813=) n.381T>G c.11436T>G (p.Ala3812=) c.11361T>G (p.Ala3787=) c.11061T>G (p.Ala3687=) c.8325T>G (p.Ala2775=) c.7218T>G (p.Ala2406=) c.11244T>G (p.Ala3748=) c.6996T>G (p.Ala2332=) c.10224T>G (p.Ala3408=) | ClinVar dbSNP gnomAD v4 |
8 | g.99868438G>A | CA371792376 | VPS13B | c.*534G>A (n.*534G>A) n.11510G>A c.*7122G>A (n.*7122G>A) c.11365G>A (p.Ala3789Thr) c.11440G>A (p.Ala3814Thr) n.382G>A c.11437G>A (p.Ala3813Thr) c.11362G>A (p.Ala3788Thr) c.11062G>A (p.Ala3688Thr) c.8326G>A (p.Ala2776Thr) c.7219G>A (p.Ala2407Thr) c.11245G>A (p.Ala3749Thr) c.6997G>A (p.Ala2333Thr) c.10225G>A (p.Ala3409Thr) | |
8 | g.99868438G>C | CA371792378 | VPS13B | c.*534G>C (n.*534G>C) n.11510G>C c.*7122G>C (n.*7122G>C) c.11365G>C (p.Ala3789Pro) c.11440G>C (p.Ala3814Pro) n.382G>C c.11437G>C (p.Ala3813Pro) c.11362G>C (p.Ala3788Pro) c.11062G>C (p.Ala3688Pro) c.8326G>C (p.Ala2776Pro) c.7219G>C (p.Ala2407Pro) c.11245G>C (p.Ala3749Pro) c.6997G>C (p.Ala2333Pro) c.10225G>C (p.Ala3409Pro) | |
8 | g.99868438G>T | CA371792379 | VPS13B | c.*534G>T (n.*534G>T) n.11510G>T c.*7122G>T (n.*7122G>T) c.11365G>T (p.Ala3789Ser) c.11440G>T (p.Ala3814Ser) n.382G>T c.11437G>T (p.Ala3813Ser) c.11362G>T (p.Ala3788Ser) c.11062G>T (p.Ala3688Ser) c.8326G>T (p.Ala2776Ser) c.7219G>T (p.Ala2407Ser) c.11245G>T (p.Ala3749Ser) c.6997G>T (p.Ala2333Ser) c.10225G>T (p.Ala3409Ser) | |
8 | g.99868439C>A | CA371792382 | VPS13B | c.*535C>A (n.*535C>A) n.11511C>A c.*7123C>A (n.*7123C>A) c.11366C>A (p.Ala3789Asp) c.11441C>A (p.Ala3814Asp) n.383C>A c.11438C>A (p.Ala3813Asp) c.11363C>A (p.Ala3788Asp) c.11063C>A (p.Ala3688Asp) c.8327C>A (p.Ala2776Asp) c.7220C>A (p.Ala2407Asp) c.11246C>A (p.Ala3749Asp) c.6998C>A (p.Ala2333Asp) c.10226C>A (p.Ala3409Asp) | |
8 | g.99868439C>G | CA371792384 | VPS13B | c.*535C>G (n.*535C>G) n.11511C>G c.*7123C>G (n.*7123C>G) c.11366C>G (p.Ala3789Gly) c.11441C>G (p.Ala3814Gly) n.383C>G c.11438C>G (p.Ala3813Gly) c.11363C>G (p.Ala3788Gly) c.11063C>G (p.Ala3688Gly) c.8327C>G (p.Ala2776Gly) c.7220C>G (p.Ala2407Gly) c.11246C>G (p.Ala3749Gly) c.6998C>G (p.Ala2333Gly) c.10226C>G (p.Ala3409Gly) | |
8 | g.99868439C>T | CA371792387 | VPS13B | c.*535C>T (n.*535C>T) n.11511C>T c.*7123C>T (n.*7123C>T) c.11366C>T (p.Ala3789Val) c.11441C>T (p.Ala3814Val) n.383C>T c.11438C>T (p.Ala3813Val) c.11363C>T (p.Ala3788Val) c.11063C>T (p.Ala3688Val) c.8327C>T (p.Ala2776Val) c.7220C>T (p.Ala2407Val) c.11246C>T (p.Ala3749Val) c.6998C>T (p.Ala2333Val) c.10226C>T (p.Ala3409Val) | |
8 | g.99868440T>A | CA462339417 | VPS13B | c.*536T>A (n.*536T>A) n.11512T>A c.*7124T>A (n.*7124T>A) c.11367T>A (p.Ala3789=) c.11442T>A (p.Ala3814=) n.384T>A c.11439T>A (p.Ala3813=) c.11364T>A (p.Ala3788=) c.11064T>A (p.Ala3688=) c.8328T>A (p.Ala2776=) c.7221T>A (p.Ala2407=) c.11247T>A (p.Ala3749=) c.6999T>A (p.Ala2333=) c.10227T>A (p.Ala3409=) | |
8 | g.99868440T>C | CA4825215 | VPS13B | c.*536T>C (n.*536T>C) n.11512T>C c.*7124T>C (n.*7124T>C) c.11367T>C (p.Ala3789=) c.11442T>C (p.Ala3814=) n.384T>C c.11439T>C (p.Ala3813=) c.11364T>C (p.Ala3788=) c.11064T>C (p.Ala3688=) c.8328T>C (p.Ala2776=) c.7221T>C (p.Ala2407=) c.11247T>C (p.Ala3749=) c.6999T>C (p.Ala2333=) c.10227T>C (p.Ala3409=) | dbSNP ExAC gnomAD v2 |
8 | g.99868440T>G | CA462339418 | VPS13B | c.*536T>G (n.*536T>G) n.11512T>G c.*7124T>G (n.*7124T>G) c.11367T>G (p.Ala3789=) c.11442T>G (p.Ala3814=) n.384T>G c.11439T>G (p.Ala3813=) c.11364T>G (p.Ala3788=) c.11064T>G (p.Ala3688=) c.8328T>G (p.Ala2776=) c.7221T>G (p.Ala2407=) c.11247T>G (p.Ala3749=) c.6999T>G (p.Ala2333=) c.10227T>G (p.Ala3409=) | |
8 | g.99868441G>A | CA371792400 | VPS13B | c.*537G>A (n.*537G>A) n.11513G>A c.*7125G>A (n.*7125G>A) c.11368G>A (p.Glu3790Lys) c.11443G>A (p.Glu3815Lys) n.385G>A c.11440G>A (p.Glu3814Lys) c.11365G>A (p.Glu3789Lys) c.11065G>A (p.Glu3689Lys) c.8329G>A (p.Glu2777Lys) c.7222G>A (p.Glu2408Lys) c.11248G>A (p.Glu3750Lys) c.7000G>A (p.Glu2334Lys) c.10228G>A (p.Glu3410Lys) | |
8 | g.99868441G>C | CA371792395 | VPS13B | c.*537G>C (n.*537G>C) n.11513G>C c.*7125G>C (n.*7125G>C) c.11368G>C (p.Glu3790Gln) c.11443G>C (p.Glu3815Gln) n.385G>C c.11440G>C (p.Glu3814Gln) c.11365G>C (p.Glu3789Gln) c.11065G>C (p.Glu3689Gln) c.8329G>C (p.Glu2777Gln) c.7222G>C (p.Glu2408Gln) c.11248G>C (p.Glu3750Gln) c.7000G>C (p.Glu2334Gln) c.10228G>C (p.Glu3410Gln) | |
8 | g.99868441G>T | CA371792397 | VPS13B | c.*537G>T (n.*537G>T) n.11513G>T c.*7125G>T (n.*7125G>T) c.11368G>T (p.Glu3790Ter) c.11443G>T (p.Glu3815Ter) n.385G>T c.11440G>T (p.Glu3814Ter) c.11365G>T (p.Glu3789Ter) c.11065G>T (p.Glu3689Ter) c.8329G>T (p.Glu2777Ter) c.7222G>T (p.Glu2408Ter) c.11248G>T (p.Glu3750Ter) c.7000G>T (p.Glu2334Ter) c.10228G>T (p.Glu3410Ter) | gnomAD v4 |
8 | g.99868442A>C | CA371792402 | VPS13B | c.*538A>C (n.*538A>C) n.11514A>C c.*7126A>C (n.*7126A>C) c.11369A>C (p.Glu3790Ala) c.11444A>C (p.Glu3815Ala) n.386A>C c.11441A>C (p.Glu3814Ala) c.11366A>C (p.Glu3789Ala) c.11066A>C (p.Glu3689Ala) c.8330A>C (p.Glu2777Ala) c.7223A>C (p.Glu2408Ala) c.11249A>C (p.Glu3750Ala) c.7001A>C (p.Glu2334Ala) c.10229A>C (p.Glu3410Ala) | |
8 | g.99868442A>G | CA371792404 | VPS13B | c.*538A>G (n.*538A>G) n.11514A>G c.*7126A>G (n.*7126A>G) c.11369A>G (p.Glu3790Gly) c.11444A>G (p.Glu3815Gly) n.386A>G c.11441A>G (p.Glu3814Gly) c.11366A>G (p.Glu3789Gly) c.11066A>G (p.Glu3689Gly) c.8330A>G (p.Glu2777Gly) c.7223A>G (p.Glu2408Gly) c.11249A>G (p.Glu3750Gly) c.7001A>G (p.Glu2334Gly) c.10229A>G (p.Glu3410Gly) | gnomAD v4 |
8 | g.99868442A>T | CA371792406 | VPS13B | c.*538A>T (n.*538A>T) n.11514A>T c.*7126A>T (n.*7126A>T) c.11369A>T (p.Glu3790Val) c.11444A>T (p.Glu3815Val) n.386A>T c.11441A>T (p.Glu3814Val) c.11366A>T (p.Glu3789Val) c.11066A>T (p.Glu3689Val) c.8330A>T (p.Glu2777Val) c.7223A>T (p.Glu2408Val) c.11249A>T (p.Glu3750Val) c.7001A>T (p.Glu2334Val) c.10229A>T (p.Glu3410Val) | |
8 | g.99868443G>A | CA462339422 | VPS13B | c.*539G>A (n.*539G>A) n.11515G>A c.*7127G>A (n.*7127G>A) c.11370G>A (p.Glu3790=) c.11445G>A (p.Glu3815=) n.387G>A c.11442G>A (p.Glu3814=) c.11367G>A (p.Glu3789=) c.11067G>A (p.Glu3689=) c.8331G>A (p.Glu2777=) c.7224G>A (p.Glu2408=) c.11250G>A (p.Glu3750=) c.7002G>A (p.Glu2334=) c.10230G>A (p.Glu3410=) | |
8 | g.99868443G>C | CA371792408 | VPS13B | c.*539G>C (n.*539G>C) n.11515G>C c.*7127G>C (n.*7127G>C) c.11370G>C (p.Glu3790Asp) c.11445G>C (p.Glu3815Asp) n.387G>C c.11442G>C (p.Glu3814Asp) c.11367G>C (p.Glu3789Asp) c.11067G>C (p.Glu3689Asp) c.8331G>C (p.Glu2777Asp) c.7224G>C (p.Glu2408Asp) c.11250G>C (p.Glu3750Asp) c.7002G>C (p.Glu2334Asp) c.10230G>C (p.Glu3410Asp) | |
8 | g.99868443G>T | CA371792412 | VPS13B | c.*539G>T (n.*539G>T) n.11515G>T c.*7127G>T (n.*7127G>T) c.11370G>T (p.Glu3790Asp) c.11445G>T (p.Glu3815Asp) n.387G>T c.11442G>T (p.Glu3814Asp) c.11367G>T (p.Glu3789Asp) c.11067G>T (p.Glu3689Asp) c.8331G>T (p.Glu2777Asp) c.7224G>T (p.Glu2408Asp) c.11250G>T (p.Glu3750Asp) c.7002G>T (p.Glu2334Asp) c.10230G>T (p.Glu3410Asp) | |
8 | g.99868444C>A | CA371792415 | VPS13B | c.*540C>A (n.*540C>A) n.11516C>A c.*7128C>A (n.*7128C>A) c.11371C>A (p.Leu3791Met) c.11446C>A (p.Leu3816Met) n.388C>A c.11443C>A (p.Leu3815Met) c.11368C>A (p.Leu3790Met) c.11068C>A (p.Leu3690Met) c.8332C>A (p.Leu2778Met) c.7225C>A (p.Leu2409Met) c.11251C>A (p.Leu3751Met) c.7003C>A (p.Leu2335Met) c.10231C>A (p.Leu3411Met) | |
8 | g.99868444C>G | CA371792417 | VPS13B | c.*540C>G (n.*540C>G) n.11516C>G c.*7128C>G (n.*7128C>G) c.11371C>G (p.Leu3791Val) c.11446C>G (p.Leu3816Val) n.388C>G c.11443C>G (p.Leu3815Val) c.11368C>G (p.Leu3790Val) c.11068C>G (p.Leu3690Val) c.8332C>G (p.Leu2778Val) c.7225C>G (p.Leu2409Val) c.11251C>G (p.Leu3751Val) c.7003C>G (p.Leu2335Val) c.10231C>G (p.Leu3411Val) | |
8 | g.99868444C>T | CA462339423 | VPS13B | c.*540C>T (n.*540C>T) n.11516C>T c.*7128C>T (n.*7128C>T) c.11371C>T (p.Leu3791=) c.11446C>T (p.Leu3816=) n.388C>T c.11443C>T (p.Leu3815=) c.11368C>T (p.Leu3790=) c.11068C>T (p.Leu3690=) c.8332C>T (p.Leu2778=) c.7225C>T (p.Leu2409=) c.11251C>T (p.Leu3751=) c.7003C>T (p.Leu2335=) c.10231C>T (p.Leu3411=) | ClinVar dbSNP gnomAD v4 |
8 | g.99868445T>A | CA371792420 | VPS13B | c.*541T>A (n.*541T>A) n.11517T>A c.*7129T>A (n.*7129T>A) c.11372T>A (p.Leu3791Gln) c.11447T>A (p.Leu3816Gln) n.389T>A c.11444T>A (p.Leu3815Gln) c.11369T>A (p.Leu3790Gln) c.11069T>A (p.Leu3690Gln) c.8333T>A (p.Leu2778Gln) c.7226T>A (p.Leu2409Gln) c.11252T>A (p.Leu3751Gln) c.7004T>A (p.Leu2335Gln) c.10232T>A (p.Leu3411Gln) | gnomAD v4 |
8 | g.99868445T>C | CA371792422 | VPS13B | c.*541T>C (n.*541T>C) n.11517T>C c.*7129T>C (n.*7129T>C) c.11372T>C (p.Leu3791Pro) c.11447T>C (p.Leu3816Pro) n.389T>C c.11444T>C (p.Leu3815Pro) c.11369T>C (p.Leu3790Pro) c.11069T>C (p.Leu3690Pro) c.8333T>C (p.Leu2778Pro) c.7226T>C (p.Leu2409Pro) c.11252T>C (p.Leu3751Pro) c.7004T>C (p.Leu2335Pro) c.10232T>C (p.Leu3411Pro) | |
8 | g.99868445T>G | CA371792424 | VPS13B | c.*541T>G (n.*541T>G) n.11517T>G c.*7129T>G (n.*7129T>G) c.11372T>G (p.Leu3791Arg) c.11447T>G (p.Leu3816Arg) n.389T>G c.11444T>G (p.Leu3815Arg) c.11369T>G (p.Leu3790Arg) c.11069T>G (p.Leu3690Arg) c.8333T>G (p.Leu2778Arg) c.7226T>G (p.Leu2409Arg) c.11252T>G (p.Leu3751Arg) c.7004T>G (p.Leu2335Arg) c.10232T>G (p.Leu3411Arg) | |
8 | g.99868447_99868449dup | CA2579216443 | VPS13B | c.*543_*545dup (n.*543_*545dup) n.11519_11521dup c.*7131_*7133dup (n.*7131_*7133dup) c.11374_11376dup (p.Val3792_Ser3793insVal) c.11449_11451dup (p.Val3817_Ser3818insVal) n.391_393dup c.11446_11448dup (p.Val3816_Ser3817insVal) c.11371_11373dup (p.Val3791_Ser3792insVal) c.11071_11073dup (p.Val3691_Ser3692insVal) c.8335_8337dup (p.Val2779_Ser2780insVal) c.7228_7230dup (p.Val2410_Ser2411insVal) c.11254_11256dup (p.Val3752_Ser3753insVal) c.7006_7008dup (p.Val2336_Ser2337insVal) c.10234_10236dup (p.Val3412_Ser3413insVal) | |
8 | g.99868445_99868446insACAC | CA2781481379 | VPS13B | c.*541_*542insACAC (n.*541_*542insACAC) n.11517_11518insACAC c.*7129_*7130insACAC (n.*7129_*7130insACAC) c.11372_11373insACAC (p.Val3792HisfsTer27) c.11447_11448insACAC (p.Val3817HisfsTer27) n.389_390insACAC c.11444_11445insACAC (p.Val3816HisfsTer27) c.11369_11370insACAC (p.Val3791HisfsTer27) c.11069_11070insACAC (p.Val3691HisfsTer27) c.8333_8334insACAC (p.Val2779HisfsTer27) c.7226_7227insACAC (p.Val2410HisfsTer27) c.11252_11253insACAC (p.Val3752HisfsTer27) c.7004_7005insACAC (p.Val2336HisfsTer27) c.10232_10233insACAC (p.Val3412HisfsTer27) | |
8 | g.99868446G>A | CA462339426 | VPS13B | c.*542G>A (n.*542G>A) n.11518G>A c.*7130G>A (n.*7130G>A) c.11373G>A (p.Leu3791=) c.11448G>A (p.Leu3816=) n.390G>A c.11445G>A (p.Leu3815=) c.11370G>A (p.Leu3790=) c.11070G>A (p.Leu3690=) c.8334G>A (p.Leu2778=) c.7227G>A (p.Leu2409=) c.11253G>A (p.Leu3751=) c.7005G>A (p.Leu2335=) c.10233G>A (p.Leu3411=) | |
8 | g.99868446G>C | CA462339427 | VPS13B | c.*542G>C (n.*542G>C) n.11518G>C c.*7130G>C (n.*7130G>C) c.11373G>C (p.Leu3791=) c.11448G>C (p.Leu3816=) n.390G>C c.11445G>C (p.Leu3815=) c.11370G>C (p.Leu3790=) c.11070G>C (p.Leu3690=) c.8334G>C (p.Leu2778=) c.7227G>C (p.Leu2409=) c.11253G>C (p.Leu3751=) c.7005G>C (p.Leu2335=) c.10233G>C (p.Leu3411=) | |
8 | g.99868446G>T | CA462339428 | VPS13B | c.*542G>T (n.*542G>T) n.11518G>T c.*7130G>T (n.*7130G>T) c.11373G>T (p.Leu3791=) c.11448G>T (p.Leu3816=) n.390G>T c.11445G>T (p.Leu3815=) c.11370G>T (p.Leu3790=) c.11070G>T (p.Leu3690=) c.8334G>T (p.Leu2778=) c.7227G>T (p.Leu2409=) c.11253G>T (p.Leu3751=) c.7005G>T (p.Leu2335=) c.10233G>T (p.Leu3411=) | |
8 | g.99868447G>A | CA4825216 | VPS13B | c.*543G>A (n.*543G>A) n.11519G>A c.*7131G>A (n.*7131G>A) c.11374G>A (p.Val3792Met) c.11449G>A (p.Val3817Met) n.391G>A c.11446G>A (p.Val3816Met) c.11371G>A (p.Val3791Met) c.11071G>A (p.Val3691Met) c.8335G>A (p.Val2779Met) c.7228G>A (p.Val2410Met) c.11254G>A (p.Val3752Met) c.7006G>A (p.Val2336Met) c.10234G>A (p.Val3412Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868447G>C | CA371792427 | VPS13B | c.*543G>C (n.*543G>C) n.11519G>C c.*7131G>C (n.*7131G>C) c.11374G>C (p.Val3792Leu) c.11449G>C (p.Val3817Leu) n.391G>C c.11446G>C (p.Val3816Leu) c.11371G>C (p.Val3791Leu) c.11071G>C (p.Val3691Leu) c.8335G>C (p.Val2779Leu) c.7228G>C (p.Val2410Leu) c.11254G>C (p.Val3752Leu) c.7006G>C (p.Val2336Leu) c.10234G>C (p.Val3412Leu) | |
8 | g.99868447G>T | CA371792430 | VPS13B | c.*543G>T (n.*543G>T) n.11519G>T c.*7131G>T (n.*7131G>T) c.11374G>T (p.Val3792Leu) c.11449G>T (p.Val3817Leu) n.391G>T c.11446G>T (p.Val3816Leu) c.11371G>T (p.Val3791Leu) c.11071G>T (p.Val3691Leu) c.8335G>T (p.Val2779Leu) c.7228G>T (p.Val2410Leu) c.11254G>T (p.Val3752Leu) c.7006G>T (p.Val2336Leu) c.10234G>T (p.Val3412Leu) | |
8 | g.99868448T>A | CA371792435 | VPS13B | c.*544T>A (n.*544T>A) n.11520T>A c.*7132T>A (n.*7132T>A) c.11375T>A (p.Val3792Glu) c.11450T>A (p.Val3817Glu) n.392T>A c.11447T>A (p.Val3816Glu) c.11372T>A (p.Val3791Glu) c.11072T>A (p.Val3691Glu) c.8336T>A (p.Val2779Glu) c.7229T>A (p.Val2410Glu) c.11255T>A (p.Val3752Glu) c.7007T>A (p.Val2336Glu) c.10235T>A (p.Val3412Glu) | |
8 | g.99868448T>C | CA371792438 | VPS13B | c.*544T>C (n.*544T>C) n.11520T>C c.*7132T>C (n.*7132T>C) c.11375T>C (p.Val3792Ala) c.11450T>C (p.Val3817Ala) n.392T>C c.11447T>C (p.Val3816Ala) c.11372T>C (p.Val3791Ala) c.11072T>C (p.Val3691Ala) c.8336T>C (p.Val2779Ala) c.7229T>C (p.Val2410Ala) c.11255T>C (p.Val3752Ala) c.7007T>C (p.Val2336Ala) c.10235T>C (p.Val3412Ala) | gnomAD v4 |
8 | g.99868448T>G | CA371792440 | VPS13B | c.*544T>G (n.*544T>G) n.11520T>G c.*7132T>G (n.*7132T>G) c.11375T>G (p.Val3792Gly) c.11450T>G (p.Val3817Gly) n.392T>G c.11447T>G (p.Val3816Gly) c.11372T>G (p.Val3791Gly) c.11072T>G (p.Val3691Gly) c.8336T>G (p.Val2779Gly) c.7229T>G (p.Val2410Gly) c.11255T>G (p.Val3752Gly) c.7007T>G (p.Val2336Gly) c.10235T>G (p.Val3412Gly) | |
8 | g.99868449G>A | CA462339431 | VPS13B | c.*545G>A (n.*545G>A) n.11521G>A c.*7133G>A (n.*7133G>A) c.11376G>A (p.Val3792=) c.11451G>A (p.Val3817=) n.393G>A c.11448G>A (p.Val3816=) c.11373G>A (p.Val3791=) c.11073G>A (p.Val3691=) c.8337G>A (p.Val2779=) c.7230G>A (p.Val2410=) c.11256G>A (p.Val3752=) c.7008G>A (p.Val2336=) c.10236G>A (p.Val3412=) | COSMIC COSMIC |
8 | g.99868449G>C | CA462339432 | VPS13B | c.*545G>C (n.*545G>C) n.11521G>C c.*7133G>C (n.*7133G>C) c.11376G>C (p.Val3792=) c.11451G>C (p.Val3817=) n.393G>C c.11448G>C (p.Val3816=) c.11373G>C (p.Val3791=) c.11073G>C (p.Val3691=) c.8337G>C (p.Val2779=) c.7230G>C (p.Val2410=) c.11256G>C (p.Val3752=) c.7008G>C (p.Val2336=) c.10236G>C (p.Val3412=) | |
8 | g.99868449G>T | CA462339430 | VPS13B | c.*545G>T (n.*545G>T) n.11521G>T c.*7133G>T (n.*7133G>T) c.11376G>T (p.Val3792=) c.11451G>T (p.Val3817=) n.393G>T c.11448G>T (p.Val3816=) c.11373G>T (p.Val3791=) c.11073G>T (p.Val3691=) c.8337G>T (p.Val2779=) c.7230G>T (p.Val2410=) c.11256G>T (p.Val3752=) c.7008G>T (p.Val2336=) c.10236G>T (p.Val3412=) | |
8 | g.99868450T>A | CA371792444 | VPS13B | c.*546T>A (n.*546T>A) n.11522T>A c.*7134T>A (n.*7134T>A) c.11377T>A (p.Ser3793Thr) c.11452T>A (p.Ser3818Thr) n.394T>A c.11449T>A (p.Ser3817Thr) c.11374T>A (p.Ser3792Thr) c.11074T>A (p.Ser3692Thr) c.8338T>A (p.Ser2780Thr) c.7231T>A (p.Ser2411Thr) c.11257T>A (p.Ser3753Thr) c.7009T>A (p.Ser2337Thr) c.10237T>A (p.Ser3413Thr) | |
8 | g.99868450T>C | CA371792447 | VPS13B | c.*546T>C (n.*546T>C) n.11522T>C c.*7134T>C (n.*7134T>C) c.11377T>C (p.Ser3793Pro) c.11452T>C (p.Ser3818Pro) n.394T>C c.11449T>C (p.Ser3817Pro) c.11374T>C (p.Ser3792Pro) c.11074T>C (p.Ser3692Pro) c.8338T>C (p.Ser2780Pro) c.7231T>C (p.Ser2411Pro) c.11257T>C (p.Ser3753Pro) c.7009T>C (p.Ser2337Pro) c.10237T>C (p.Ser3413Pro) | |
8 | g.99868450T>G | CA371792449 | VPS13B | c.*546T>G (n.*546T>G) n.11522T>G c.*7134T>G (n.*7134T>G) c.11377T>G (p.Ser3793Ala) c.11452T>G (p.Ser3818Ala) n.394T>G c.11449T>G (p.Ser3817Ala) c.11374T>G (p.Ser3792Ala) c.11074T>G (p.Ser3692Ala) c.8338T>G (p.Ser2780Ala) c.7231T>G (p.Ser2411Ala) c.11257T>G (p.Ser3753Ala) c.7009T>G (p.Ser2337Ala) c.10237T>G (p.Ser3413Ala) | |
8 | g.99868450_99868452del | CA913128150 | VPS13B | c.*546_*548del (n.*546_*548del) n.11522_11524del c.*7134_*7136del (n.*7134_*7136del) c.11377_11379del (p.Ser3793del) c.11452_11454del (p.Ser3818del) n.394_396del c.11449_11451del (p.Ser3817del) c.11374_11376del (p.Ser3792del) c.11074_11076del (p.Ser3692del) c.8338_8340del (p.Ser2780del) c.7231_7233del (p.Ser2411del) c.11257_11259del (p.Ser3753del) c.7009_7011del (p.Ser2337del) c.10237_10239del (p.Ser3413del) | |
8 | g.99868451C>A | CA371792453 | VPS13B | c.*547C>A (n.*547C>A) n.11523C>A c.*7135C>A (n.*7135C>A) c.11378C>A (p.Ser3793Ter) c.11453C>A (p.Ser3818Ter) n.395C>A c.11450C>A (p.Ser3817Ter) c.11375C>A (p.Ser3792Ter) c.11075C>A (p.Ser3692Ter) c.8339C>A (p.Ser2780Ter) c.7232C>A (p.Ser2411Ter) c.11258C>A (p.Ser3753Ter) c.7010C>A (p.Ser2337Ter) c.10238C>A (p.Ser3413Ter) | |
8 | g.99868451C>G | CA275326 | VPS13B | c.*547C>G (n.*547C>G) n.11523C>G c.*7135C>G (n.*7135C>G) c.11378C>G (p.Ser3793Ter) c.11453C>G (p.Ser3818Ter) n.395C>G c.11450C>G (p.Ser3817Ter) c.11375C>G (p.Ser3792Ter) c.11075C>G (p.Ser3692Ter) c.8339C>G (p.Ser2780Ter) c.7232C>G (p.Ser2411Ter) c.11258C>G (p.Ser3753Ter) c.7010C>G (p.Ser2337Ter) c.10238C>G (p.Ser3413Ter) | ClinVar dbSNP gnomAD v4 |
8 | g.99868451C>T | CA371792456 | VPS13B | c.*547C>T (n.*547C>T) n.11523C>T c.*7135C>T (n.*7135C>T) c.11378C>T (p.Ser3793Leu) c.11453C>T (p.Ser3818Leu) n.395C>T c.11450C>T (p.Ser3817Leu) c.11375C>T (p.Ser3792Leu) c.11075C>T (p.Ser3692Leu) c.8339C>T (p.Ser2780Leu) c.7232C>T (p.Ser2411Leu) c.11258C>T (p.Ser3753Leu) c.7010C>T (p.Ser2337Leu) c.10238C>T (p.Ser3413Leu) | COSMIC COSMIC |
8 | g.99868453_99868454del | CA658821920 | VPS13B | c.*549_*550del (n.*549_*550del) n.11525_11526del c.*7137_*7138del (n.*7137_*7138del) c.11380_11381del (p.Gln3794AspfsTer23) c.11455_11456del (p.Gln3819AspfsTer23) n.397_398del c.11452_11453del (p.Gln3818AspfsTer23) c.11377_11378del (p.Gln3793AspfsTer23) c.11077_11078del (p.Gln3693AspfsTer23) c.8341_8342del (p.Gln2781AspfsTer23) c.7234_7235del (p.Gln2412AspfsTer23) c.11260_11261del (p.Gln3754AspfsTer23) c.7012_7013del (p.Gln2338AspfsTer23) c.10240_10241del (p.Gln3414AspfsTer23) | ClinVar dbSNP |
8 | g.99868452A>C | CA462339436 | VPS13B | c.*548A>C (n.*548A>C) n.11524A>C c.*7136A>C (n.*7136A>C) c.11379A>C (p.Ser3793=) c.11454A>C (p.Ser3818=) n.396A>C c.11451A>C (p.Ser3817=) c.11376A>C (p.Ser3792=) c.11076A>C (p.Ser3692=) c.8340A>C (p.Ser2780=) c.7233A>C (p.Ser2411=) c.11259A>C (p.Ser3753=) c.7011A>C (p.Ser2337=) c.10239A>C (p.Ser3413=) | |
8 | g.99868452A>G | CA462339437 | VPS13B | c.*548A>G (n.*548A>G) n.11524A>G c.*7136A>G (n.*7136A>G) c.11379A>G (p.Ser3793=) c.11454A>G (p.Ser3818=) n.396A>G c.11451A>G (p.Ser3817=) c.11376A>G (p.Ser3792=) c.11076A>G (p.Ser3692=) c.8340A>G (p.Ser2780=) c.7233A>G (p.Ser2411=) c.11259A>G (p.Ser3753=) c.7011A>G (p.Ser2337=) c.10239A>G (p.Ser3413=) | |
8 | g.99868452A>T | CA462339438 | VPS13B | c.*548A>T (n.*548A>T) n.11524A>T c.*7136A>T (n.*7136A>T) c.11379A>T (p.Ser3793=) c.11454A>T (p.Ser3818=) n.396A>T c.11451A>T (p.Ser3817=) c.11376A>T (p.Ser3792=) c.11076A>T (p.Ser3692=) c.8340A>T (p.Ser2780=) c.7233A>T (p.Ser2411=) c.11259A>T (p.Ser3753=) c.7011A>T (p.Ser2337=) c.10239A>T (p.Ser3413=) | |
8 | g.99868453C>A | CA371792459 | VPS13B | c.*549C>A (n.*549C>A) n.11525C>A c.*7137C>A (n.*7137C>A) c.11380C>A (p.Gln3794Lys) c.11455C>A (p.Gln3819Lys) n.397C>A c.11452C>A (p.Gln3818Lys) c.11377C>A (p.Gln3793Lys) c.11077C>A (p.Gln3693Lys) c.8341C>A (p.Gln2781Lys) c.7234C>A (p.Gln2412Lys) c.11260C>A (p.Gln3754Lys) c.7012C>A (p.Gln2338Lys) c.10240C>A (p.Gln3414Lys) | |
8 | g.99868453C>G | CA371792461 | VPS13B | c.*549C>G (n.*549C>G) n.11525C>G c.*7137C>G (n.*7137C>G) c.11380C>G (p.Gln3794Glu) c.11455C>G (p.Gln3819Glu) n.397C>G c.11452C>G (p.Gln3818Glu) c.11377C>G (p.Gln3793Glu) c.11077C>G (p.Gln3693Glu) c.8341C>G (p.Gln2781Glu) c.7234C>G (p.Gln2412Glu) c.11260C>G (p.Gln3754Glu) c.7012C>G (p.Gln2338Glu) c.10240C>G (p.Gln3414Glu) | |
8 | g.99868453C>T | CA371792463 | VPS13B | c.*549C>T (n.*549C>T) n.11525C>T c.*7137C>T (n.*7137C>T) c.11380C>T (p.Gln3794Ter) c.11455C>T (p.Gln3819Ter) n.397C>T c.11452C>T (p.Gln3818Ter) c.11377C>T (p.Gln3793Ter) c.11077C>T (p.Gln3693Ter) c.8341C>T (p.Gln2781Ter) c.7234C>T (p.Gln2412Ter) c.11260C>T (p.Gln3754Ter) c.7012C>T (p.Gln2338Ter) c.10240C>T (p.Gln3414Ter) | |
8 | g.99868454A>C | CA371792469 | VPS13B | c.*550A>C (n.*550A>C) n.11526A>C c.*7138A>C (n.*7138A>C) c.11381A>C (p.Gln3794Pro) c.11456A>C (p.Gln3819Pro) n.398A>C c.11453A>C (p.Gln3818Pro) c.11378A>C (p.Gln3793Pro) c.11078A>C (p.Gln3693Pro) c.8342A>C (p.Gln2781Pro) c.7235A>C (p.Gln2412Pro) c.11261A>C (p.Gln3754Pro) c.7013A>C (p.Gln2338Pro) c.10241A>C (p.Gln3414Pro) | gnomAD v4 |
8 | g.99868454A>G | CA371792471 | VPS13B | c.*550A>G (n.*550A>G) n.11526A>G c.*7138A>G (n.*7138A>G) c.11381A>G (p.Gln3794Arg) c.11456A>G (p.Gln3819Arg) n.398A>G c.11453A>G (p.Gln3818Arg) c.11378A>G (p.Gln3793Arg) c.11078A>G (p.Gln3693Arg) c.8342A>G (p.Gln2781Arg) c.7235A>G (p.Gln2412Arg) c.11261A>G (p.Gln3754Arg) c.7013A>G (p.Gln2338Arg) c.10241A>G (p.Gln3414Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868454A>T | CA371792468 | VPS13B | c.*550A>T (n.*550A>T) n.11526A>T c.*7138A>T (n.*7138A>T) c.11381A>T (p.Gln3794Leu) c.11456A>T (p.Gln3819Leu) n.398A>T c.11453A>T (p.Gln3818Leu) c.11378A>T (p.Gln3793Leu) c.11078A>T (p.Gln3693Leu) c.8342A>T (p.Gln2781Leu) c.7235A>T (p.Gln2412Leu) c.11261A>T (p.Gln3754Leu) c.7013A>T (p.Gln2338Leu) c.10241A>T (p.Gln3414Leu) | |
8 | g.99868455G>A | CA462339439 | VPS13B | c.*551G>A (n.*551G>A) n.11527G>A c.*7139G>A (n.*7139G>A) c.11382G>A (p.Gln3794=) c.11457G>A (p.Gln3819=) n.399G>A c.11454G>A (p.Gln3818=) c.11379G>A (p.Gln3793=) c.11079G>A (p.Gln3693=) c.8343G>A (p.Gln2781=) c.7236G>A (p.Gln2412=) c.11262G>A (p.Gln3754=) c.7014G>A (p.Gln2338=) c.10242G>A (p.Gln3414=) | gnomAD v4 |
8 | g.99868455G>C | CA371792478 | VPS13B | c.*551G>C (n.*551G>C) n.11527G>C c.*7139G>C (n.*7139G>C) c.11382G>C (p.Gln3794His) c.11457G>C (p.Gln3819His) n.399G>C c.11454G>C (p.Gln3818His) c.11379G>C (p.Gln3793His) c.11079G>C (p.Gln3693His) c.8343G>C (p.Gln2781His) c.7236G>C (p.Gln2412His) c.11262G>C (p.Gln3754His) c.7014G>C (p.Gln2338His) c.10242G>C (p.Gln3414His) | |
8 | g.99868455G>T | CA371792475 | VPS13B | c.*551G>T (n.*551G>T) n.11527G>T c.*7139G>T (n.*7139G>T) c.11382G>T (p.Gln3794His) c.11457G>T (p.Gln3819His) n.399G>T c.11454G>T (p.Gln3818His) c.11379G>T (p.Gln3793His) c.11079G>T (p.Gln3693His) c.8343G>T (p.Gln2781His) c.7236G>T (p.Gln2412His) c.11262G>T (p.Gln3754His) c.7014G>T (p.Gln2338His) c.10242G>T (p.Gln3414His) | |
8 | g.99868456A>C | CA371792486 | VPS13B | c.*552A>C (n.*552A>C) n.11528A>C c.*7140A>C (n.*7140A>C) c.11383A>C (p.Thr3795Pro) c.11458A>C (p.Thr3820Pro) n.400A>C c.11455A>C (p.Thr3819Pro) c.11380A>C (p.Thr3794Pro) c.11080A>C (p.Thr3694Pro) c.8344A>C (p.Thr2782Pro) c.7237A>C (p.Thr2413Pro) c.11263A>C (p.Thr3755Pro) c.7015A>C (p.Thr2339Pro) c.10243A>C (p.Thr3415Pro) | |
8 | g.99868456A>G | CA371792481 | VPS13B | c.*552A>G (n.*552A>G) n.11528A>G c.*7140A>G (n.*7140A>G) c.11383A>G (p.Thr3795Ala) c.11458A>G (p.Thr3820Ala) n.400A>G c.11455A>G (p.Thr3819Ala) c.11380A>G (p.Thr3794Ala) c.11080A>G (p.Thr3694Ala) c.8344A>G (p.Thr2782Ala) c.7237A>G (p.Thr2413Ala) c.11263A>G (p.Thr3755Ala) c.7015A>G (p.Thr2339Ala) c.10243A>G (p.Thr3415Ala) | |
8 | g.99868456A>T | CA371792484 | VPS13B | c.*552A>T (n.*552A>T) n.11528A>T c.*7140A>T (n.*7140A>T) c.11383A>T (p.Thr3795Ser) c.11458A>T (p.Thr3820Ser) n.400A>T c.11455A>T (p.Thr3819Ser) c.11380A>T (p.Thr3794Ser) c.11080A>T (p.Thr3694Ser) c.8344A>T (p.Thr2782Ser) c.7237A>T (p.Thr2413Ser) c.11263A>T (p.Thr3755Ser) c.7015A>T (p.Thr2339Ser) c.10243A>T (p.Thr3415Ser) | |
8 | g.99868456_99868457insTGTTTT | CA2557833871 | VPS13B | c.*552_*553insTGTTTT (n.*552_*553insTGTTTT) n.11528_11529insTGTTTT c.*7140_*7141insTGTTTT (n.*7140_*7141insTGTTTT) c.11383_11384insTGTTTT (p.Thr3795delinsMetPheSer) c.11458_11459insTGTTTT (p.Thr3820delinsMetPheSer) n.400_401insTGTTTT c.11455_11456insTGTTTT (p.Thr3819delinsMetPheSer) c.11380_11381insTGTTTT (p.Thr3794delinsMetPheSer) c.11080_11081insTGTTTT (p.Thr3694delinsMetPheSer) c.8344_8345insTGTTTT (p.Thr2782delinsMetPheSer) c.7237_7238insTGTTTT (p.Thr2413delinsMetPheSer) c.11263_11264insTGTTTT (p.Thr3755delinsMetPheSer) c.7015_7016insTGTTTT (p.Thr2339delinsMetPheSer) c.10243_10244insTGTTTT (p.Thr3415delinsMetPheSer) | |
8 | g.99868457C>A | CA371792490 | VPS13B | c.*553C>A (n.*553C>A) n.11529C>A c.*7141C>A (n.*7141C>A) c.11384C>A (p.Thr3795Asn) c.11459C>A (p.Thr3820Asn) n.401C>A c.11456C>A (p.Thr3819Asn) c.11381C>A (p.Thr3794Asn) c.11081C>A (p.Thr3694Asn) c.8345C>A (p.Thr2782Asn) c.7238C>A (p.Thr2413Asn) c.11264C>A (p.Thr3755Asn) c.7016C>A (p.Thr2339Asn) c.10244C>A (p.Thr3415Asn) | COSMIC COSMIC |
8 | g.99868457C>G | CA371792492 | VPS13B | c.*553C>G (n.*553C>G) n.11529C>G c.*7141C>G (n.*7141C>G) c.11384C>G (p.Thr3795Ser) c.11459C>G (p.Thr3820Ser) n.401C>G c.11456C>G (p.Thr3819Ser) c.11381C>G (p.Thr3794Ser) c.11081C>G (p.Thr3694Ser) c.8345C>G (p.Thr2782Ser) c.7238C>G (p.Thr2413Ser) c.11264C>G (p.Thr3755Ser) c.7016C>G (p.Thr2339Ser) c.10244C>G (p.Thr3415Ser) | |
8 | g.99868457C>T | CA371792494 | VPS13B | c.*553C>T (n.*553C>T) n.11529C>T c.*7141C>T (n.*7141C>T) c.11384C>T (p.Thr3795Ile) c.11459C>T (p.Thr3820Ile) n.401C>T c.11456C>T (p.Thr3819Ile) c.11381C>T (p.Thr3794Ile) c.11081C>T (p.Thr3694Ile) c.8345C>T (p.Thr2782Ile) c.7238C>T (p.Thr2413Ile) c.11264C>T (p.Thr3755Ile) c.7016C>T (p.Thr2339Ile) c.10244C>T (p.Thr3415Ile) | |
8 | g.99868458T>A | CA462339443 | VPS13B | c.*554T>A (n.*554T>A) n.11530T>A c.*7142T>A (n.*7142T>A) c.11385T>A (p.Thr3795=) c.11460T>A (p.Thr3820=) n.402T>A c.11457T>A (p.Thr3819=) c.11382T>A (p.Thr3794=) c.11082T>A (p.Thr3694=) c.8346T>A (p.Thr2782=) c.7239T>A (p.Thr2413=) c.11265T>A (p.Thr3755=) c.7017T>A (p.Thr2339=) c.10245T>A (p.Thr3415=) | |
8 | g.99868458T>C | CA462339444 | VPS13B | c.*554T>C (n.*554T>C) n.11530T>C c.*7142T>C (n.*7142T>C) c.11385T>C (p.Thr3795=) c.11460T>C (p.Thr3820=) n.402T>C c.11457T>C (p.Thr3819=) c.11382T>C (p.Thr3794=) c.11082T>C (p.Thr3694=) c.8346T>C (p.Thr2782=) c.7239T>C (p.Thr2413=) c.11265T>C (p.Thr3755=) c.7017T>C (p.Thr2339=) c.10245T>C (p.Thr3415=) | ClinVar |
8 | g.99868458T>G | CA462339445 | VPS13B | c.*554T>G (n.*554T>G) n.11530T>G c.*7142T>G (n.*7142T>G) c.11385T>G (p.Thr3795=) c.11460T>G (p.Thr3820=) n.402T>G c.11457T>G (p.Thr3819=) c.11382T>G (p.Thr3794=) c.11082T>G (p.Thr3694=) c.8346T>G (p.Thr2782=) c.7239T>G (p.Thr2413=) c.11265T>G (p.Thr3755=) c.7017T>G (p.Thr2339=) c.10245T>G (p.Thr3415=) | |
8 | g.99868459G>A | CA371792511 | VPS13B | c.*555G>A (n.*555G>A) n.11531G>A c.*7143G>A (n.*7143G>A) c.11386G>A (p.Gly3796Ser) c.11461G>A (p.Gly3821Ser) n.403G>A c.11458G>A (p.Gly3820Ser) c.11383G>A (p.Gly3795Ser) c.11083G>A (p.Gly3695Ser) c.8347G>A (p.Gly2783Ser) c.7240G>A (p.Gly2414Ser) c.11266G>A (p.Gly3756Ser) c.7018G>A (p.Gly2340Ser) c.10246G>A (p.Gly3416Ser) | |
8 | g.99868459G>C | CA371792508 | VPS13B | c.*555G>C (n.*555G>C) n.11531G>C c.*7143G>C (n.*7143G>C) c.11386G>C (p.Gly3796Arg) c.11461G>C (p.Gly3821Arg) n.403G>C c.11458G>C (p.Gly3820Arg) c.11383G>C (p.Gly3795Arg) c.11083G>C (p.Gly3695Arg) c.8347G>C (p.Gly2783Arg) c.7240G>C (p.Gly2414Arg) c.11266G>C (p.Gly3756Arg) c.7018G>C (p.Gly2340Arg) c.10246G>C (p.Gly3416Arg) | |
8 | g.99868459G>T | CA371792497 | VPS13B | c.*555G>T (n.*555G>T) n.11531G>T c.*7143G>T (n.*7143G>T) c.11386G>T (p.Gly3796Cys) c.11461G>T (p.Gly3821Cys) n.403G>T c.11458G>T (p.Gly3820Cys) c.11383G>T (p.Gly3795Cys) c.11083G>T (p.Gly3695Cys) c.8347G>T (p.Gly2783Cys) c.7240G>T (p.Gly2414Cys) c.11266G>T (p.Gly3756Cys) c.7018G>T (p.Gly2340Cys) c.10246G>T (p.Gly3416Cys) | |
8 | g.99868460G>A | CA371792516 | VPS13B | c.*556G>A (n.*556G>A) n.11532G>A c.*7144G>A (n.*7144G>A) c.11387G>A (p.Gly3796Asp) c.11462G>A (p.Gly3821Asp) n.404G>A c.11459G>A (p.Gly3820Asp) c.11384G>A (p.Gly3795Asp) c.11084G>A (p.Gly3695Asp) c.8348G>A (p.Gly2783Asp) c.7241G>A (p.Gly2414Asp) c.11267G>A (p.Gly3756Asp) c.7019G>A (p.Gly2340Asp) c.10247G>A (p.Gly3416Asp) | |
8 | g.99868460G>C | CA182328710 | VPS13B | c.*556G>C (n.*556G>C) n.11532G>C c.*7144G>C (n.*7144G>C) c.11387G>C (p.Gly3796Ala) c.11462G>C (p.Gly3821Ala) n.404G>C c.11459G>C (p.Gly3820Ala) c.11384G>C (p.Gly3795Ala) c.11084G>C (p.Gly3695Ala) c.8348G>C (p.Gly2783Ala) c.7241G>C (p.Gly2414Ala) c.11267G>C (p.Gly3756Ala) c.7019G>C (p.Gly2340Ala) c.10247G>C (p.Gly3416Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868460G>T | CA371792519 | VPS13B | c.*556G>T (n.*556G>T) n.11532G>T c.*7144G>T (n.*7144G>T) c.11387G>T (p.Gly3796Val) c.11462G>T (p.Gly3821Val) n.404G>T c.11459G>T (p.Gly3820Val) c.11384G>T (p.Gly3795Val) c.11084G>T (p.Gly3695Val) c.8348G>T (p.Gly2783Val) c.7241G>T (p.Gly2414Val) c.11267G>T (p.Gly3756Val) c.7019G>T (p.Gly2340Val) c.10247G>T (p.Gly3416Val) | |
8 | g.99868461C>A | CA462339449 | VPS13B | c.*557C>A (n.*557C>A) n.11533C>A c.*7145C>A (n.*7145C>A) c.11388C>A (p.Gly3796=) c.11463C>A (p.Gly3821=) n.405C>A c.11460C>A (p.Gly3820=) c.11385C>A (p.Gly3795=) c.11085C>A (p.Gly3695=) c.8349C>A (p.Gly2783=) c.7242C>A (p.Gly2414=) c.11268C>A (p.Gly3756=) c.7020C>A (p.Gly2340=) c.10248C>A (p.Gly3416=) | |
8 | g.99868461C>G | CA462339450 | VPS13B | c.*557C>G (n.*557C>G) n.11533C>G c.*7145C>G (n.*7145C>G) c.11388C>G (p.Gly3796=) c.11463C>G (p.Gly3821=) n.405C>G c.11460C>G (p.Gly3820=) c.11385C>G (p.Gly3795=) c.11085C>G (p.Gly3695=) c.8349C>G (p.Gly2783=) c.7242C>G (p.Gly2414=) c.11268C>G (p.Gly3756=) c.7020C>G (p.Gly2340=) c.10248C>G (p.Gly3416=) | |
8 | g.99868461C>T | CA462339451 | VPS13B | c.*557C>T (n.*557C>T) n.11533C>T c.*7145C>T (n.*7145C>T) c.11388C>T (p.Gly3796=) c.11463C>T (p.Gly3821=) n.405C>T c.11460C>T (p.Gly3820=) c.11385C>T (p.Gly3795=) c.11085C>T (p.Gly3695=) c.8349C>T (p.Gly2783=) c.7242C>T (p.Gly2414=) c.11268C>T (p.Gly3756=) c.7020C>T (p.Gly2340=) c.10248C>T (p.Gly3416=) | |
8 | g.99868462T>A | CA371792522 | VPS13B | c.*558T>A (n.*558T>A) n.11534T>A c.*7146T>A (n.*7146T>A) c.11389T>A (p.Tyr3797Asn) c.11464T>A (p.Tyr3822Asn) n.406T>A c.11461T>A (p.Tyr3821Asn) c.11386T>A (p.Tyr3796Asn) c.11086T>A (p.Tyr3696Asn) c.8350T>A (p.Tyr2784Asn) c.7243T>A (p.Tyr2415Asn) c.11269T>A (p.Tyr3757Asn) c.7021T>A (p.Tyr2341Asn) c.10249T>A (p.Tyr3417Asn) | |
8 | g.99868462T>C | CA371792525 | VPS13B | c.*558T>C (n.*558T>C) n.11534T>C c.*7146T>C (n.*7146T>C) c.11389T>C (p.Tyr3797His) c.11464T>C (p.Tyr3822His) n.406T>C c.11461T>C (p.Tyr3821His) c.11386T>C (p.Tyr3796His) c.11086T>C (p.Tyr3696His) c.8350T>C (p.Tyr2784His) c.7243T>C (p.Tyr2415His) c.11269T>C (p.Tyr3757His) c.7021T>C (p.Tyr2341His) c.10249T>C (p.Tyr3417His) | |
8 | g.99868462T>G | CA371792527 | VPS13B | c.*558T>G (n.*558T>G) n.11534T>G c.*7146T>G (n.*7146T>G) c.11389T>G (p.Tyr3797Asp) c.11464T>G (p.Tyr3822Asp) n.406T>G c.11461T>G (p.Tyr3821Asp) c.11386T>G (p.Tyr3796Asp) c.11086T>G (p.Tyr3696Asp) c.8350T>G (p.Tyr2784Asp) c.7243T>G (p.Tyr2415Asp) c.11269T>G (p.Tyr3757Asp) c.7021T>G (p.Tyr2341Asp) c.10249T>G (p.Tyr3417Asp) | |
8 | g.99868463A>C | CA371792531 | VPS13B | c.*559A>C (n.*559A>C) n.11535A>C c.*7147A>C (n.*7147A>C) c.11390A>C (p.Tyr3797Ser) c.11465A>C (p.Tyr3822Ser) n.407A>C c.11462A>C (p.Tyr3821Ser) c.11387A>C (p.Tyr3796Ser) c.11087A>C (p.Tyr3696Ser) c.8351A>C (p.Tyr2784Ser) c.7244A>C (p.Tyr2415Ser) c.11270A>C (p.Tyr3757Ser) c.7022A>C (p.Tyr2341Ser) c.10250A>C (p.Tyr3417Ser) | |
8 | g.99868463A>G | CA371792536 | VPS13B | c.*559A>G (n.*559A>G) n.11535A>G c.*7147A>G (n.*7147A>G) c.11390A>G (p.Tyr3797Cys) c.11465A>G (p.Tyr3822Cys) n.407A>G c.11462A>G (p.Tyr3821Cys) c.11387A>G (p.Tyr3796Cys) c.11087A>G (p.Tyr3696Cys) c.8351A>G (p.Tyr2784Cys) c.7244A>G (p.Tyr2415Cys) c.11270A>G (p.Tyr3757Cys) c.7022A>G (p.Tyr2341Cys) c.10250A>G (p.Tyr3417Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868463A>T | CA371792533 | VPS13B | c.*559A>T (n.*559A>T) n.11535A>T c.*7147A>T (n.*7147A>T) c.11390A>T (p.Tyr3797Phe) c.11465A>T (p.Tyr3822Phe) n.407A>T c.11462A>T (p.Tyr3821Phe) c.11387A>T (p.Tyr3796Phe) c.11087A>T (p.Tyr3696Phe) c.8351A>T (p.Tyr2784Phe) c.7244A>T (p.Tyr2415Phe) c.11270A>T (p.Tyr3757Phe) c.7022A>T (p.Tyr2341Phe) c.10250A>T (p.Tyr3417Phe) | |
8 | g.99868464T>A | CA371792539 | VPS13B | c.*560T>A (n.*560T>A) n.11536T>A c.*7148T>A (n.*7148T>A) c.11391T>A (p.Tyr3797Ter) c.11466T>A (p.Tyr3822Ter) n.408T>A c.11463T>A (p.Tyr3821Ter) c.11388T>A (p.Tyr3796Ter) c.11088T>A (p.Tyr3696Ter) c.8352T>A (p.Tyr2784Ter) c.7245T>A (p.Tyr2415Ter) c.11271T>A (p.Tyr3757Ter) c.7023T>A (p.Tyr2341Ter) c.10251T>A (p.Tyr3417Ter) | |
8 | g.99868464T>C | CA462339453 | VPS13B | c.*560T>C (n.*560T>C) n.11536T>C c.*7148T>C (n.*7148T>C) c.11391T>C (p.Tyr3797=) c.11466T>C (p.Tyr3822=) n.408T>C c.11463T>C (p.Tyr3821=) c.11388T>C (p.Tyr3796=) c.11088T>C (p.Tyr3696=) c.8352T>C (p.Tyr2784=) c.7245T>C (p.Tyr2415=) c.11271T>C (p.Tyr3757=) c.7023T>C (p.Tyr2341=) c.10251T>C (p.Tyr3417=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868464T>G | CA371792541 | VPS13B | c.*560T>G (n.*560T>G) n.11536T>G c.*7148T>G (n.*7148T>G) c.11391T>G (p.Tyr3797Ter) c.11466T>G (p.Tyr3822Ter) n.408T>G c.11463T>G (p.Tyr3821Ter) c.11388T>G (p.Tyr3796Ter) c.11088T>G (p.Tyr3696Ter) c.8352T>G (p.Tyr2784Ter) c.7245T>G (p.Tyr2415Ter) c.11271T>G (p.Tyr3757Ter) c.7023T>G (p.Tyr2341Ter) c.10251T>G (p.Tyr3417Ter) | |
8 | g.99868465G>A | CA371792545 | VPS13B | c.*561G>A (n.*561G>A) n.11537G>A c.*7149G>A (n.*7149G>A) c.11392G>A (p.Gly3798Ser) c.11467G>A (p.Gly3823Ser) n.409G>A c.11464G>A (p.Gly3822Ser) c.11389G>A (p.Gly3797Ser) c.11089G>A (p.Gly3697Ser) c.8353G>A (p.Gly2785Ser) c.7246G>A (p.Gly2416Ser) c.11272G>A (p.Gly3758Ser) c.7024G>A (p.Gly2342Ser) c.10252G>A (p.Gly3418Ser) | ClinVar COSMIC COSMIC |
8 | g.99868465G>C | CA371792548 | VPS13B | c.*561G>C (n.*561G>C) n.11537G>C c.*7149G>C (n.*7149G>C) c.11392G>C (p.Gly3798Arg) c.11467G>C (p.Gly3823Arg) n.409G>C c.11464G>C (p.Gly3822Arg) c.11389G>C (p.Gly3797Arg) c.11089G>C (p.Gly3697Arg) c.8353G>C (p.Gly2785Arg) c.7246G>C (p.Gly2416Arg) c.11272G>C (p.Gly3758Arg) c.7024G>C (p.Gly2342Arg) c.10252G>C (p.Gly3418Arg) | |
8 | g.99868465G>T | CA371792550 | VPS13B | c.*561G>T (n.*561G>T) n.11537G>T c.*7149G>T (n.*7149G>T) c.11392G>T (p.Gly3798Cys) c.11467G>T (p.Gly3823Cys) n.409G>T c.11464G>T (p.Gly3822Cys) c.11389G>T (p.Gly3797Cys) c.11089G>T (p.Gly3697Cys) c.8353G>T (p.Gly2785Cys) c.7246G>T (p.Gly2416Cys) c.11272G>T (p.Gly3758Cys) c.7024G>T (p.Gly2342Cys) c.10252G>T (p.Gly3418Cys) | COSMIC COSMIC |
8 | g.99868466G>A | CA371792554 | VPS13B | c.*561+1G>A (n.*561+1G>A) n.11537+1G>A c.*7149+1G>A (n.*7149+1G>A) c.11392+1G>A (n.11392+1G>A) c.11467+1G>A (n.11467+1G>A) n.409+1G>A c.11464+1G>A (n.11464+1G>A) c.11389+1G>A (n.11389+1G>A) c.11089+1G>A (n.11089+1G>A) c.8353+1G>A (n.8353+1G>A) c.7246+1G>A (n.7246+1G>A) c.11272+1G>A (n.11272+1G>A) c.7024+1G>A (n.7024+1G>A) c.10252+1G>A (n.10252+1G>A) | COSMIC COSMIC |
8 | g.99868466G>C | CA371792556 | VPS13B | c.*561+1G>C (n.*561+1G>C) n.11537+1G>C c.*7149+1G>C (n.*7149+1G>C) c.11392+1G>C (n.11392+1G>C) c.11467+1G>C (n.11467+1G>C) n.409+1G>C c.11464+1G>C (n.11464+1G>C) c.11389+1G>C (n.11389+1G>C) c.11089+1G>C (n.11089+1G>C) c.8353+1G>C (n.8353+1G>C) c.7246+1G>C (n.7246+1G>C) c.11272+1G>C (n.11272+1G>C) c.7024+1G>C (n.7024+1G>C) c.10252+1G>C (n.10252+1G>C) | |
8 | g.99868466G>T | CA371792558 | VPS13B | c.*561+1G>T (n.*561+1G>T) n.11537+1G>T c.*7149+1G>T (n.*7149+1G>T) c.11392+1G>T (n.11392+1G>T) c.11467+1G>T (n.11467+1G>T) n.409+1G>T c.11464+1G>T (n.11464+1G>T) c.11389+1G>T (n.11389+1G>T) c.11089+1G>T (n.11089+1G>T) c.8353+1G>T (n.8353+1G>T) c.7246+1G>T (n.7246+1G>T) c.11272+1G>T (n.11272+1G>T) c.7024+1G>T (n.7024+1G>T) c.10252+1G>T (n.10252+1G>T) | ClinVar dbSNP gnomAD v4 |
8 | g.99868467T>A | CA371792560 | VPS13B | c.*561+2T>A (n.*561+2T>A) n.11537+2T>A c.*7149+2T>A (n.*7149+2T>A) c.11392+2T>A (n.11392+2T>A) c.11467+2T>A (n.11467+2T>A) n.409+2T>A c.11464+2T>A (n.11464+2T>A) c.11389+2T>A (n.11389+2T>A) c.11089+2T>A (n.11089+2T>A) c.8353+2T>A (n.8353+2T>A) c.7246+2T>A (n.7246+2T>A) c.11272+2T>A (n.11272+2T>A) c.7024+2T>A (n.7024+2T>A) c.10252+2T>A (n.10252+2T>A) | |
8 | g.99868467T>C | CA371792563 | VPS13B | c.*561+2T>C (n.*561+2T>C) n.11537+2T>C c.*7149+2T>C (n.*7149+2T>C) c.11392+2T>C (n.11392+2T>C) c.11467+2T>C (n.11467+2T>C) n.409+2T>C c.11464+2T>C (n.11464+2T>C) c.11389+2T>C (n.11389+2T>C) c.11089+2T>C (n.11089+2T>C) c.8353+2T>C (n.8353+2T>C) c.7246+2T>C (n.7246+2T>C) c.11272+2T>C (n.11272+2T>C) c.7024+2T>C (n.7024+2T>C) c.10252+2T>C (n.10252+2T>C) | |
8 | g.99868467T>G | CA371792565 | VPS13B | c.*561+2T>G (n.*561+2T>G) n.11537+2T>G c.*7149+2T>G (n.*7149+2T>G) c.11392+2T>G (n.11392+2T>G) c.11467+2T>G (n.11467+2T>G) n.409+2T>G c.11464+2T>G (n.11464+2T>G) c.11389+2T>G (n.11389+2T>G) c.11089+2T>G (n.11089+2T>G) c.8353+2T>G (n.8353+2T>G) c.7246+2T>G (n.7246+2T>G) c.11272+2T>G (n.11272+2T>G) c.7024+2T>G (n.7024+2T>G) c.10252+2T>G (n.10252+2T>G) | |
8 | g.99868467dup | CA2497231689 | VPS13B | c.*561+2dup (n.*561+2dup) n.11537+2dup c.*7149+2dup (n.*7149+2dup) c.11392+2dup (n.11392+2dup) c.11467+2dup (n.11467+2dup) n.409+2dup c.11464+2dup (n.11464+2dup) c.11389+2dup (n.11389+2dup) c.11089+2dup (n.11089+2dup) c.8353+2dup (n.8353+2dup) c.7246+2dup (n.7246+2dup) c.11272+2dup (n.11272+2dup) c.7024+2dup (n.7024+2dup) c.10252+2dup (n.10252+2dup) | dbSNP |
8 | g.99868469A>C | CA645558538 | VPS13B | c.*561+4A>C (n.*561+4A>C) n.11537+4A>C c.*7149+4A>C (n.*7149+4A>C) c.11392+4A>C (n.11392+4A>C) c.11467+4A>C (n.11467+4A>C) n.409+4A>C c.11464+4A>C (n.11464+4A>C) c.11389+4A>C (n.11389+4A>C) c.11089+4A>C (n.11089+4A>C) c.8353+4A>C (n.8353+4A>C) c.7246+4A>C (n.7246+4A>C) c.11272+4A>C (n.11272+4A>C) c.7024+4A>C (n.7024+4A>C) c.10252+4A>C (n.10252+4A>C) | COSMIC COSMIC |
8 | g.99868470G>A | CA2579216444 | VPS13B | c.*561+5G>A (n.*561+5G>A) n.11537+5G>A c.*7149+5G>A (n.*7149+5G>A) c.11392+5G>A (n.11392+5G>A) c.11467+5G>A (n.11467+5G>A) n.409+5G>A c.11464+5G>A (n.11464+5G>A) c.11389+5G>A (n.11389+5G>A) c.11089+5G>A (n.11089+5G>A) c.8353+5G>A (n.8353+5G>A) c.7246+5G>A (n.7246+5G>A) c.11272+5G>A (n.11272+5G>A) c.7024+5G>A (n.7024+5G>A) c.10252+5G>A (n.10252+5G>A) | |
8 | g.99868470G>C | CA2580079243 | VPS13B | c.*561+5G>C (n.*561+5G>C) n.11537+5G>C c.*7149+5G>C (n.*7149+5G>C) c.11392+5G>C (n.11392+5G>C) c.11467+5G>C (n.11467+5G>C) n.409+5G>C c.11464+5G>C (n.11464+5G>C) c.11389+5G>C (n.11389+5G>C) c.11089+5G>C (n.11089+5G>C) c.8353+5G>C (n.8353+5G>C) c.7246+5G>C (n.7246+5G>C) c.11272+5G>C (n.11272+5G>C) c.7024+5G>C (n.7024+5G>C) c.10252+5G>C (n.10252+5G>C) | ClinVar |
8 | g.99868470G>T | CA2688072722 | VPS13B | c.*561+5G>T (n.*561+5G>T) n.11537+5G>T c.*7149+5G>T (n.*7149+5G>T) c.11392+5G>T (n.11392+5G>T) c.11467+5G>T (n.11467+5G>T) n.409+5G>T c.11464+5G>T (n.11464+5G>T) c.11389+5G>T (n.11389+5G>T) c.11089+5G>T (n.11089+5G>T) c.8353+5G>T (n.8353+5G>T) c.7246+5G>T (n.7246+5G>T) c.11272+5G>T (n.11272+5G>T) c.7024+5G>T (n.7024+5G>T) c.10252+5G>T (n.10252+5G>T) | gnomAD v4 |
8 | g.99868471T>G | CA4825217 | VPS13B | c.*561+6T>G (n.*561+6T>G) n.11537+6T>G c.*7149+6T>G (n.*7149+6T>G) c.11392+6T>G (n.11392+6T>G) c.11467+6T>G (n.11467+6T>G) n.409+6T>G c.11464+6T>G (n.11464+6T>G) c.11389+6T>G (n.11389+6T>G) c.11089+6T>G (n.11089+6T>G) c.8353+6T>G (n.8353+6T>G) c.7246+6T>G (n.7246+6T>G) c.11272+6T>G (n.11272+6T>G) c.7024+6T>G (n.7024+6T>G) c.10252+6T>G (n.10252+6T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868472C>A | CA2580079244 | VPS13B | c.*561+7C>A (n.*561+7C>A) n.11537+7C>A c.*7149+7C>A (n.*7149+7C>A) c.11392+7C>A (n.11392+7C>A) c.11467+7C>A (n.11467+7C>A) n.409+7C>A c.11464+7C>A (n.11464+7C>A) c.11389+7C>A (n.11389+7C>A) c.11089+7C>A (n.11089+7C>A) c.8353+7C>A (n.8353+7C>A) c.7246+7C>A (n.7246+7C>A) c.11272+7C>A (n.11272+7C>A) c.7024+7C>A (n.7024+7C>A) c.10252+7C>A (n.10252+7C>A) | ClinVar gnomAD v4 |
8 | g.99868472C>T | CA4825218 | VPS13B | c.*561+7C>T (n.*561+7C>T) n.11537+7C>T c.*7149+7C>T (n.*7149+7C>T) c.11392+7C>T (n.11392+7C>T) c.11467+7C>T (n.11467+7C>T) n.409+7C>T c.11464+7C>T (n.11464+7C>T) c.11389+7C>T (n.11389+7C>T) c.11089+7C>T (n.11089+7C>T) c.8353+7C>T (n.8353+7C>T) c.7246+7C>T (n.7246+7C>T) c.11272+7C>T (n.11272+7C>T) c.7024+7C>T (n.7024+7C>T) c.10252+7C>T (n.10252+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868473G>A | CA4825219 | VPS13B | c.*561+8G>A (n.*561+8G>A) n.11537+8G>A c.*7149+8G>A (n.*7149+8G>A) c.11392+8G>A (n.11392+8G>A) c.11467+8G>A (n.11467+8G>A) n.409+8G>A c.11464+8G>A (n.11464+8G>A) c.11389+8G>A (n.11389+8G>A) c.11089+8G>A (n.11089+8G>A) c.8353+8G>A (n.8353+8G>A) c.7246+8G>A (n.7246+8G>A) c.11272+8G>A (n.11272+8G>A) c.7024+8G>A (n.7024+8G>A) c.10252+8G>A (n.10252+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868473G>T | CA2573143503 | VPS13B | c.*561+8G>T (n.*561+8G>T) n.11537+8G>T c.*7149+8G>T (n.*7149+8G>T) c.11392+8G>T (n.11392+8G>T) c.11467+8G>T (n.11467+8G>T) n.409+8G>T c.11464+8G>T (n.11464+8G>T) c.11389+8G>T (n.11389+8G>T) c.11089+8G>T (n.11089+8G>T) c.8353+8G>T (n.8353+8G>T) c.7246+8G>T (n.7246+8G>T) c.11272+8G>T (n.11272+8G>T) c.7024+8G>T (n.7024+8G>T) c.10252+8G>T (n.10252+8G>T) | ClinVar dbSNP |
8 | g.99868475T>C | CA2688072726 | VPS13B | c.*561+10T>C (n.*561+10T>C) n.11537+10T>C c.*7149+10T>C (n.*7149+10T>C) c.11392+10T>C (n.11392+10T>C) c.11467+10T>C (n.11467+10T>C) n.409+10T>C c.11464+10T>C (n.11464+10T>C) c.11389+10T>C (n.11389+10T>C) c.11089+10T>C (n.11089+10T>C) c.8353+10T>C (n.8353+10T>C) c.7246+10T>C (n.7246+10T>C) c.11272+10T>C (n.11272+10T>C) c.7024+10T>C (n.7024+10T>C) c.10252+10T>C (n.10252+10T>C) | dbSNP gnomAD v4 |
8 | g.99868481dup | CA2688072727 | VPS13B | c.*561+16dup (n.*561+16dup) n.11537+16dup c.*7149+16dup (n.*7149+16dup) c.11392+16dup (n.11392+16dup) c.11467+16dup (n.11467+16dup) n.409+16dup c.11464+16dup (n.11464+16dup) c.11389+16dup (n.11389+16dup) c.11089+16dup (n.11089+16dup) c.8353+16dup (n.8353+16dup) c.7246+16dup (n.7246+16dup) c.11272+16dup (n.11272+16dup) c.7024+16dup (n.7024+16dup) c.10252+16dup (n.10252+16dup) | gnomAD v4 |
8 | g.99868479_99868486del | CA2781481380 | VPS13B | c.*561+14_*561+21del (n.*561+14_*561+21del) n.11537+14_11537+21del c.*7149+14_*7149+21del (n.*7149+14_*7149+21del) c.11392+14_11392+21del (n.11392+14_11392+21del) c.11467+14_11467+21del (n.11467+14_11467+21del) n.409+14_409+21del c.11464+14_11464+21del (n.11464+14_11464+21del) c.11389+14_11389+21del (n.11389+14_11389+21del) c.11089+14_11089+21del (n.11089+14_11089+21del) c.8353+14_8353+21del (n.8353+14_8353+21del) c.7246+14_7246+21del (n.7246+14_7246+21del) c.11272+14_11272+21del (n.11272+14_11272+21del) c.7024+14_7024+21del (n.7024+14_7024+21del) c.10252+14_10252+21del (n.10252+14_10252+21del) | |
8 | g.99868480A>G | CA2688072728 | VPS13B | c.*561+15A>G (n.*561+15A>G) n.11537+15A>G c.*7149+15A>G (n.*7149+15A>G) c.11392+15A>G (n.11392+15A>G) c.11467+15A>G (n.11467+15A>G) n.409+15A>G c.11464+15A>G (n.11464+15A>G) c.11389+15A>G (n.11389+15A>G) c.11089+15A>G (n.11089+15A>G) c.8353+15A>G (n.8353+15A>G) c.7246+15A>G (n.7246+15A>G) c.11272+15A>G (n.11272+15A>G) c.7024+15A>G (n.7024+15A>G) c.10252+15A>G (n.10252+15A>G) | gnomAD v4 |
8 | g.99868481A>C | CA2717782220 | VPS13B | c.*561+16A>C (n.*561+16A>C) n.11537+16A>C c.*7149+16A>C (n.*7149+16A>C) c.11392+16A>C (n.11392+16A>C) c.11467+16A>C (n.11467+16A>C) n.409+16A>C c.11464+16A>C (n.11464+16A>C) c.11389+16A>C (n.11389+16A>C) c.11089+16A>C (n.11089+16A>C) c.8353+16A>C (n.8353+16A>C) c.7246+16A>C (n.7246+16A>C) c.11272+16A>C (n.11272+16A>C) c.7024+16A>C (n.7024+16A>C) c.10252+16A>C (n.10252+16A>C) | dbSNP |
8 | g.99868482C>A | CA4825220 | VPS13B | c.*561+17C>A (n.*561+17C>A) n.11537+17C>A c.*7149+17C>A (n.*7149+17C>A) c.11392+17C>A (n.11392+17C>A) c.11467+17C>A (n.11467+17C>A) n.409+17C>A c.11464+17C>A (n.11464+17C>A) c.11389+17C>A (n.11389+17C>A) c.11089+17C>A (n.11089+17C>A) c.8353+17C>A (n.8353+17C>A) c.7246+17C>A (n.7246+17C>A) c.11272+17C>A (n.11272+17C>A) c.7024+17C>A (n.7024+17C>A) c.10252+17C>A (n.10252+17C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868482C>G | CA4825221 | VPS13B | c.*561+17C>G (n.*561+17C>G) n.11537+17C>G c.*7149+17C>G (n.*7149+17C>G) c.11392+17C>G (n.11392+17C>G) c.11467+17C>G (n.11467+17C>G) n.409+17C>G c.11464+17C>G (n.11464+17C>G) c.11389+17C>G (n.11389+17C>G) c.11089+17C>G (n.11089+17C>G) c.8353+17C>G (n.8353+17C>G) c.7246+17C>G (n.7246+17C>G) c.11272+17C>G (n.11272+17C>G) c.7024+17C>G (n.7024+17C>G) c.10252+17C>G (n.10252+17C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868483C>A | CA2688072730 | VPS13B | c.*561+18C>A (n.*561+18C>A) n.11537+18C>A c.*7149+18C>A (n.*7149+18C>A) c.11392+18C>A (n.11392+18C>A) c.11467+18C>A (n.11467+18C>A) n.409+18C>A c.11464+18C>A (n.11464+18C>A) c.11389+18C>A (n.11389+18C>A) c.11089+18C>A (n.11089+18C>A) c.8353+18C>A (n.8353+18C>A) c.7246+18C>A (n.7246+18C>A) c.11272+18C>A (n.11272+18C>A) c.7024+18C>A (n.7024+18C>A) c.10252+18C>A (n.10252+18C>A) | gnomAD v4 |
8 | g.99868484C>T | CA2499219496 | VPS13B | c.*561+19C>T (n.*561+19C>T) n.11537+19C>T c.*7149+19C>T (n.*7149+19C>T) c.11392+19C>T (n.11392+19C>T) c.11467+19C>T (n.11467+19C>T) n.409+19C>T c.11464+19C>T (n.11464+19C>T) c.11389+19C>T (n.11389+19C>T) c.11089+19C>T (n.11089+19C>T) c.8353+19C>T (n.8353+19C>T) c.7246+19C>T (n.7246+19C>T) c.11272+19C>T (n.11272+19C>T) c.7024+19C>T (n.7024+19C>T) c.10252+19C>T (n.10252+19C>T) | ClinVar dbSNP |
8 | g.99868485A>G | CA2739268896 | VPS13B | c.*561+20A>G (n.*561+20A>G) n.11537+20A>G c.*7149+20A>G (n.*7149+20A>G) c.11392+20A>G (n.11392+20A>G) c.11467+20A>G (n.11467+20A>G) n.409+20A>G c.11464+20A>G (n.11464+20A>G) c.11389+20A>G (n.11389+20A>G) c.11089+20A>G (n.11089+20A>G) c.8353+20A>G (n.8353+20A>G) c.7246+20A>G (n.7246+20A>G) c.11272+20A>G (n.11272+20A>G) c.7024+20A>G (n.7024+20A>G) c.10252+20A>G (n.10252+20A>G) | ClinVar |
8 | g.99868487C>T | CA583861107 | VPS13B | c.*561+22C>T (n.*561+22C>T) n.11537+22C>T c.*7149+22C>T (n.*7149+22C>T) c.11392+22C>T (n.11392+22C>T) c.11467+22C>T (n.11467+22C>T) n.409+22C>T c.11464+22C>T (n.11464+22C>T) c.11389+22C>T (n.11389+22C>T) c.11089+22C>T (n.11089+22C>T) c.8353+22C>T (n.8353+22C>T) c.7246+22C>T (n.7246+22C>T) c.11272+22C>T (n.11272+22C>T) c.7024+22C>T (n.7024+22C>T) c.10252+22C>T (n.10252+22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868488A>G | CA1117129794 | VPS13B | c.*561+23A>G (n.*561+23A>G) n.11537+23A>G c.*7149+23A>G (n.*7149+23A>G) c.11392+23A>G (n.11392+23A>G) c.11467+23A>G (n.11467+23A>G) n.409+23A>G c.11464+23A>G (n.11464+23A>G) c.11389+23A>G (n.11389+23A>G) c.11089+23A>G (n.11089+23A>G) c.8353+23A>G (n.8353+23A>G) c.7246+23A>G (n.7246+23A>G) c.11272+23A>G (n.11272+23A>G) c.7024+23A>G (n.7024+23A>G) c.10252+23A>G (n.10252+23A>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868490del | CA2579216445 | VPS13B | c.*561+25del (n.*561+25del) n.11537+25del c.*7149+25del (n.*7149+25del) c.11392+25del (n.11392+25del) c.11467+25del (n.11467+25del) n.409+25del c.11464+25del (n.11464+25del) c.11389+25del (n.11389+25del) c.11089+25del (n.11089+25del) c.8353+25del (n.8353+25del) c.7246+25del (n.7246+25del) c.11272+25del (n.11272+25del) c.7024+25del (n.7024+25del) c.10252+25del (n.10252+25del) | |
8 | g.99868489_99868490insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC | CA2506029321 | VPS13B | c.*561+24_*561+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.*561+24_*561+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) n.11537+24_11537+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC c.*7149+24_*7149+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.*7149+24_*7149+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) c.11392+24_11392+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11392+24_11392+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) c.11467+24_11467+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11467+24_11467+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) n.409+24_409+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC c.11464+24_11464+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11464+24_11464+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) c.11389+24_11389+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11389+24_11389+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) c.11089+24_11089+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11089+24_11089+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) c.8353+24_8353+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.8353+24_8353+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) c.7246+24_7246+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.7246+24_7246+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) c.11272+24_11272+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.11272+24_11272+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) c.7024+24_7024+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.7024+24_7024+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) c.10252+24_10252+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC (n.10252+24_10252+25insATGAGGCTGTTGCTTTTGATGCGTGGGTGAAGGAGGCGTATTCTACGGCTGATGAGAAGGTGGATGAGCTGGCTTCTTCGGGGGTATTCCCGTTTGCGCCGTCATTCCTCTGCTCGTGGTGTCCTTTGGC) | |
8 | g.99868490G>A | CA583861109 | VPS13B | c.*561+25G>A (n.*561+25G>A) n.11537+25G>A c.*7149+25G>A (n.*7149+25G>A) c.11392+25G>A (n.11392+25G>A) c.11467+25G>A (n.11467+25G>A) n.409+25G>A c.11464+25G>A (n.11464+25G>A) c.11389+25G>A (n.11389+25G>A) c.11089+25G>A (n.11089+25G>A) c.8353+25G>A (n.8353+25G>A) c.7246+25G>A (n.7246+25G>A) c.11272+25G>A (n.11272+25G>A) c.7024+25G>A (n.7024+25G>A) c.10252+25G>A (n.10252+25G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868490G>C | CA2688072731 | VPS13B | c.*561+25G>C (n.*561+25G>C) n.11537+25G>C c.*7149+25G>C (n.*7149+25G>C) c.11392+25G>C (n.11392+25G>C) c.11467+25G>C (n.11467+25G>C) n.409+25G>C c.11464+25G>C (n.11464+25G>C) c.11389+25G>C (n.11389+25G>C) c.11089+25G>C (n.11089+25G>C) c.8353+25G>C (n.8353+25G>C) c.7246+25G>C (n.7246+25G>C) c.11272+25G>C (n.11272+25G>C) c.7024+25G>C (n.7024+25G>C) c.10252+25G>C (n.10252+25G>C) | gnomAD v4 |
8 | g.99868491C>A | CA4825222 | VPS13B | c.*561+26C>A (n.*561+26C>A) n.11537+26C>A c.*7149+26C>A (n.*7149+26C>A) c.11392+26C>A (n.11392+26C>A) c.11467+26C>A (n.11467+26C>A) n.409+26C>A c.11464+26C>A (n.11464+26C>A) c.11389+26C>A (n.11389+26C>A) c.11089+26C>A (n.11089+26C>A) c.8353+26C>A (n.8353+26C>A) c.7246+26C>A (n.7246+26C>A) c.11272+26C>A (n.11272+26C>A) c.7024+26C>A (n.7024+26C>A) c.10252+26C>A (n.10252+26C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868491C>G | CA4825223 | VPS13B | c.*561+26C>G (n.*561+26C>G) n.11537+26C>G c.*7149+26C>G (n.*7149+26C>G) c.11392+26C>G (n.11392+26C>G) c.11467+26C>G (n.11467+26C>G) n.409+26C>G c.11464+26C>G (n.11464+26C>G) c.11389+26C>G (n.11389+26C>G) c.11089+26C>G (n.11089+26C>G) c.8353+26C>G (n.8353+26C>G) c.7246+26C>G (n.7246+26C>G) c.11272+26C>G (n.11272+26C>G) c.7024+26C>G (n.7024+26C>G) c.10252+26C>G (n.10252+26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868491_99868493del | CA2781481381 | VPS13B | c.*561+26_*561+28del (n.*561+26_*561+28del) n.11537+26_11537+28del c.*7149+26_*7149+28del (n.*7149+26_*7149+28del) c.11392+26_11392+28del (n.11392+26_11392+28del) c.11467+26_11467+28del (n.11467+26_11467+28del) n.409+26_409+28del c.11464+26_11464+28del (n.11464+26_11464+28del) c.11389+26_11389+28del (n.11389+26_11389+28del) c.11089+26_11089+28del (n.11089+26_11089+28del) c.8353+26_8353+28del (n.8353+26_8353+28del) c.7246+26_7246+28del (n.7246+26_7246+28del) c.11272+26_11272+28del (n.11272+26_11272+28del) c.7024+26_7024+28del (n.7024+26_7024+28del) c.10252+26_10252+28del (n.10252+26_10252+28del) | |
8 | g.99868494A>G | CA2688072733 | VPS13B | c.*561+29A>G (n.*561+29A>G) n.11537+29A>G c.*7149+29A>G (n.*7149+29A>G) c.11392+29A>G (n.11392+29A>G) c.11467+29A>G (n.11467+29A>G) n.409+29A>G c.11464+29A>G (n.11464+29A>G) c.11389+29A>G (n.11389+29A>G) c.11089+29A>G (n.11089+29A>G) c.8353+29A>G (n.8353+29A>G) c.7246+29A>G (n.7246+29A>G) c.11272+29A>G (n.11272+29A>G) c.7024+29A>G (n.7024+29A>G) c.10252+29A>G (n.10252+29A>G) | dbSNP gnomAD v4 |
8 | g.99868494_99868496del | CA2781481382 | VPS13B | c.*561+29_*561+31del (n.*561+29_*561+31del) n.11537+29_11537+31del c.*7149+29_*7149+31del (n.*7149+29_*7149+31del) c.11392+29_11392+31del (n.11392+29_11392+31del) c.11467+29_11467+31del (n.11467+29_11467+31del) n.409+29_409+31del c.11464+29_11464+31del (n.11464+29_11464+31del) c.11389+29_11389+31del (n.11389+29_11389+31del) c.11089+29_11089+31del (n.11089+29_11089+31del) c.8353+29_8353+31del (n.8353+29_8353+31del) c.7246+29_7246+31del (n.7246+29_7246+31del) c.11272+29_11272+31del (n.11272+29_11272+31del) c.7024+29_7024+31del (n.7024+29_7024+31del) c.10252+29_10252+31del (n.10252+29_10252+31del) | |
8 | g.99868495C>A | CA2688072735 | VPS13B | c.*561+30C>A (n.*561+30C>A) n.11537+30C>A c.*7149+30C>A (n.*7149+30C>A) c.11392+30C>A (n.11392+30C>A) c.11467+30C>A (n.11467+30C>A) n.409+30C>A c.11464+30C>A (n.11464+30C>A) c.11389+30C>A (n.11389+30C>A) c.11089+30C>A (n.11089+30C>A) c.8353+30C>A (n.8353+30C>A) c.7246+30C>A (n.7246+30C>A) c.11272+30C>A (n.11272+30C>A) c.7024+30C>A (n.7024+30C>A) c.10252+30C>A (n.10252+30C>A) | gnomAD v4 |
8 | g.99868495C>T | CA857608740 | VPS13B | c.*561+30C>T (n.*561+30C>T) n.11537+30C>T c.*7149+30C>T (n.*7149+30C>T) c.11392+30C>T (n.11392+30C>T) c.11467+30C>T (n.11467+30C>T) n.409+30C>T c.11464+30C>T (n.11464+30C>T) c.11389+30C>T (n.11389+30C>T) c.11089+30C>T (n.11089+30C>T) c.8353+30C>T (n.8353+30C>T) c.7246+30C>T (n.7246+30C>T) c.11272+30C>T (n.11272+30C>T) c.7024+30C>T (n.7024+30C>T) c.10252+30C>T (n.10252+30C>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868497del | CA2781481383 | VPS13B | c.*561+32del (n.*561+32del) n.11537+32del c.*7149+32del (n.*7149+32del) c.11392+32del (n.11392+32del) c.11467+32del (n.11467+32del) n.409+32del c.11464+32del (n.11464+32del) c.11389+32del (n.11389+32del) c.11089+32del (n.11089+32del) c.8353+32del (n.8353+32del) c.7246+32del (n.7246+32del) c.11272+32del (n.11272+32del) c.7024+32del (n.7024+32del) c.10252+32del (n.10252+32del) | |
8 | g.99868496C>A | CA2688072736 | VPS13B | c.*561+31C>A (n.*561+31C>A) n.11537+31C>A c.*7149+31C>A (n.*7149+31C>A) c.11392+31C>A (n.11392+31C>A) c.11467+31C>A (n.11467+31C>A) n.409+31C>A c.11464+31C>A (n.11464+31C>A) c.11389+31C>A (n.11389+31C>A) c.11089+31C>A (n.11089+31C>A) c.8353+31C>A (n.8353+31C>A) c.7246+31C>A (n.7246+31C>A) c.11272+31C>A (n.11272+31C>A) c.7024+31C>A (n.7024+31C>A) c.10252+31C>A (n.10252+31C>A) | gnomAD v4 |
8 | g.99868496C>G | CA2781481384 | VPS13B | c.*561+31C>G (n.*561+31C>G) n.11537+31C>G c.*7149+31C>G (n.*7149+31C>G) c.11392+31C>G (n.11392+31C>G) c.11467+31C>G (n.11467+31C>G) n.409+31C>G c.11464+31C>G (n.11464+31C>G) c.11389+31C>G (n.11389+31C>G) c.11089+31C>G (n.11089+31C>G) c.8353+31C>G (n.8353+31C>G) c.7246+31C>G (n.7246+31C>G) c.11272+31C>G (n.11272+31C>G) c.7024+31C>G (n.7024+31C>G) c.10252+31C>G (n.10252+31C>G) | |
8 | g.99868496C>T | CA2688072737 | VPS13B | c.*561+31C>T (n.*561+31C>T) n.11537+31C>T c.*7149+31C>T (n.*7149+31C>T) c.11392+31C>T (n.11392+31C>T) c.11467+31C>T (n.11467+31C>T) n.409+31C>T c.11464+31C>T (n.11464+31C>T) c.11389+31C>T (n.11389+31C>T) c.11089+31C>T (n.11089+31C>T) c.8353+31C>T (n.8353+31C>T) c.7246+31C>T (n.7246+31C>T) c.11272+31C>T (n.11272+31C>T) c.7024+31C>T (n.7024+31C>T) c.10252+31C>T (n.10252+31C>T) | gnomAD v4 |
8 | g.99868496_99868497insACCCAACA | CA2781481385 | VPS13B | c.*561+31_*561+32insACCCAACA (n.*561+31_*561+32insACCCAACA) n.11537+31_11537+32insACCCAACA c.*7149+31_*7149+32insACCCAACA (n.*7149+31_*7149+32insACCCAACA) c.11392+31_11392+32insACCCAACA (n.11392+31_11392+32insACCCAACA) c.11467+31_11467+32insACCCAACA (n.11467+31_11467+32insACCCAACA) n.409+31_409+32insACCCAACA c.11464+31_11464+32insACCCAACA (n.11464+31_11464+32insACCCAACA) c.11389+31_11389+32insACCCAACA (n.11389+31_11389+32insACCCAACA) c.11089+31_11089+32insACCCAACA (n.11089+31_11089+32insACCCAACA) c.8353+31_8353+32insACCCAACA (n.8353+31_8353+32insACCCAACA) c.7246+31_7246+32insACCCAACA (n.7246+31_7246+32insACCCAACA) c.11272+31_11272+32insACCCAACA (n.11272+31_11272+32insACCCAACA) c.7024+31_7024+32insACCCAACA (n.7024+31_7024+32insACCCAACA) c.10252+31_10252+32insACCCAACA (n.10252+31_10252+32insACCCAACA) | |
8 | g.99868497C>A | CA2579216446 | VPS13B | c.*561+32C>A (n.*561+32C>A) n.11537+32C>A c.*7149+32C>A (n.*7149+32C>A) c.11392+32C>A (n.11392+32C>A) c.11467+32C>A (n.11467+32C>A) n.409+32C>A c.11464+32C>A (n.11464+32C>A) c.11389+32C>A (n.11389+32C>A) c.11089+32C>A (n.11089+32C>A) c.8353+32C>A (n.8353+32C>A) c.7246+32C>A (n.7246+32C>A) c.11272+32C>A (n.11272+32C>A) c.7024+32C>A (n.7024+32C>A) c.10252+32C>A (n.10252+32C>A) | |
8 | g.99868497C>T | CA182328742 | VPS13B | c.*561+32C>T (n.*561+32C>T) n.11537+32C>T c.*7149+32C>T (n.*7149+32C>T) c.11392+32C>T (n.11392+32C>T) c.11467+32C>T (n.11467+32C>T) n.409+32C>T c.11464+32C>T (n.11464+32C>T) c.11389+32C>T (n.11389+32C>T) c.11089+32C>T (n.11089+32C>T) c.8353+32C>T (n.8353+32C>T) c.7246+32C>T (n.7246+32C>T) c.11272+32C>T (n.11272+32C>T) c.7024+32C>T (n.7024+32C>T) c.10252+32C>T (n.10252+32C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |