Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99717189_99717191del | CA2497230336 | VPS13B | c.6548_6550del (p.Ser2183del) n.6618_6620del c.*2230_*2232del (n.*2230_*2232del) c.6473_6475del (p.Ser2158del) c.6545_6547del (p.Ser2182del) c.6470_6472del (p.Ser2157del) c.6170_6172del (p.Ser2057del) c.3434_3436del (p.Ser1145del) c.2327_2329del (p.Ser776del) c.6353_6355del (p.Ser2118del) c.2105_2107del (p.Ser702del) c.5333_5335del (p.Ser1778del) | dbSNP |
8 | g.99717186C>A | CA16041244 | VPS13B | c.6545C>A (p.Ser2182Ter) n.6615C>A c.*2227C>A (n.*2227C>A) c.6470C>A (p.Ser2157Ter) c.6542C>A (p.Ser2181Ter) c.6467C>A (p.Ser2156Ter) c.6167C>A (p.Ser2056Ter) c.3431C>A (p.Ser1144Ter) c.2324C>A (p.Ser775Ter) c.6350C>A (p.Ser2117Ter) c.2102C>A (p.Ser701Ter) c.5330C>A (p.Ser1777Ter) | ClinVar dbSNP gnomAD v4 |
8 | g.99717186C>G | CA371867108 | VPS13B | c.6545C>G (p.Ser2182Ter) n.6615C>G c.*2227C>G (n.*2227C>G) c.6470C>G (p.Ser2157Ter) c.6542C>G (p.Ser2181Ter) c.6467C>G (p.Ser2156Ter) c.6167C>G (p.Ser2056Ter) c.3431C>G (p.Ser1144Ter) c.2324C>G (p.Ser775Ter) c.6350C>G (p.Ser2117Ter) c.2102C>G (p.Ser701Ter) c.5330C>G (p.Ser1777Ter) | ClinVar |
8 | g.99717186C>T | CA371867107 | VPS13B | c.6545C>T (p.Ser2182Leu) n.6615C>T c.*2227C>T (n.*2227C>T) c.6470C>T (p.Ser2157Leu) c.6542C>T (p.Ser2181Leu) c.6467C>T (p.Ser2156Leu) c.6167C>T (p.Ser2056Leu) c.3431C>T (p.Ser1144Leu) c.2324C>T (p.Ser775Leu) c.6350C>T (p.Ser2117Leu) c.2102C>T (p.Ser701Leu) c.5330C>T (p.Ser1777Leu) | |
8 | g.99717187A>C | CA462440203 | VPS13B | c.6546A>C (p.Ser2182=) n.6616A>C c.*2228A>C (n.*2228A>C) c.6471A>C (p.Ser2157=) c.6543A>C (p.Ser2181=) c.6468A>C (p.Ser2156=) c.6168A>C (p.Ser2056=) c.3432A>C (p.Ser1144=) c.2325A>C (p.Ser775=) c.6351A>C (p.Ser2117=) c.2103A>C (p.Ser701=) c.5331A>C (p.Ser1777=) | |
8 | g.99717187A>G | CA4824010 | VPS13B | c.6546A>G (p.Ser2182=) n.6616A>G c.*2228A>G (n.*2228A>G) c.6471A>G (p.Ser2157=) c.6543A>G (p.Ser2181=) c.6468A>G (p.Ser2156=) c.6168A>G (p.Ser2056=) c.3432A>G (p.Ser1144=) c.2325A>G (p.Ser775=) c.6351A>G (p.Ser2117=) c.2103A>G (p.Ser701=) c.5331A>G (p.Ser1777=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717187A>T | CA462440202 | VPS13B | c.6546A>T (p.Ser2182=) n.6616A>T c.*2228A>T (n.*2228A>T) c.6471A>T (p.Ser2157=) c.6543A>T (p.Ser2181=) c.6468A>T (p.Ser2156=) c.6168A>T (p.Ser2056=) c.3432A>T (p.Ser1144=) c.2325A>T (p.Ser775=) c.6351A>T (p.Ser2117=) c.2103A>T (p.Ser701=) c.5331A>T (p.Ser1777=) | |
8 | g.99717188T>A | CA371867109 | VPS13B | c.6547T>A (p.Ser2183Thr) n.6617T>A c.*2229T>A (n.*2229T>A) c.6472T>A (p.Ser2158Thr) c.6544T>A (p.Ser2182Thr) c.6469T>A (p.Ser2157Thr) c.6169T>A (p.Ser2057Thr) c.3433T>A (p.Ser1145Thr) c.2326T>A (p.Ser776Thr) c.6352T>A (p.Ser2118Thr) c.2104T>A (p.Ser702Thr) c.5332T>A (p.Ser1778Thr) | COSMIC COSMIC |
8 | g.99717188T>C | CA371867110 | VPS13B | c.6547T>C (p.Ser2183Pro) n.6617T>C c.*2229T>C (n.*2229T>C) c.6472T>C (p.Ser2158Pro) c.6544T>C (p.Ser2182Pro) c.6469T>C (p.Ser2157Pro) c.6169T>C (p.Ser2057Pro) c.3433T>C (p.Ser1145Pro) c.2326T>C (p.Ser776Pro) c.6352T>C (p.Ser2118Pro) c.2104T>C (p.Ser702Pro) c.5332T>C (p.Ser1778Pro) | |
8 | g.99717188T>G | CA371867111 | VPS13B | c.6547T>G (p.Ser2183Ala) n.6617T>G c.*2229T>G (n.*2229T>G) c.6472T>G (p.Ser2158Ala) c.6544T>G (p.Ser2182Ala) c.6469T>G (p.Ser2157Ala) c.6169T>G (p.Ser2057Ala) c.3433T>G (p.Ser1145Ala) c.2326T>G (p.Ser776Ala) c.6352T>G (p.Ser2118Ala) c.2104T>G (p.Ser702Ala) c.5332T>G (p.Ser1778Ala) | |
8 | g.99717189C>A | CA371867112 | VPS13B | c.6548C>A (p.Ser2183Ter) n.6618C>A c.*2230C>A (n.*2230C>A) c.6473C>A (p.Ser2158Ter) c.6545C>A (p.Ser2182Ter) c.6470C>A (p.Ser2157Ter) c.6170C>A (p.Ser2057Ter) c.3434C>A (p.Ser1145Ter) c.2327C>A (p.Ser776Ter) c.6353C>A (p.Ser2118Ter) c.2105C>A (p.Ser702Ter) c.5333C>A (p.Ser1778Ter) | |
8 | g.99717189C>G | CA4824011 | VPS13B | c.6548C>G (p.Ser2183Ter) n.6618C>G c.*2230C>G (n.*2230C>G) c.6473C>G (p.Ser2158Ter) c.6545C>G (p.Ser2182Ter) c.6470C>G (p.Ser2157Ter) c.6170C>G (p.Ser2057Ter) c.3434C>G (p.Ser1145Ter) c.2327C>G (p.Ser776Ter) c.6353C>G (p.Ser2118Ter) c.2105C>G (p.Ser702Ter) c.5333C>G (p.Ser1778Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717189C>T | CA371867113 | VPS13B | c.6548C>T (p.Ser2183Leu) n.6618C>T c.*2230C>T (n.*2230C>T) c.6473C>T (p.Ser2158Leu) c.6545C>T (p.Ser2182Leu) c.6470C>T (p.Ser2157Leu) c.6170C>T (p.Ser2057Leu) c.3434C>T (p.Ser1145Leu) c.2327C>T (p.Ser776Leu) c.6353C>T (p.Ser2118Leu) c.2105C>T (p.Ser702Leu) c.5333C>T (p.Ser1778Leu) | |
8 | g.99717190A>C | CA462440206 | VPS13B | c.6549A>C (p.Ser2183=) n.6619A>C c.*2231A>C (n.*2231A>C) c.6474A>C (p.Ser2158=) c.6546A>C (p.Ser2182=) c.6471A>C (p.Ser2157=) c.6171A>C (p.Ser2057=) c.3435A>C (p.Ser1145=) c.2328A>C (p.Ser776=) c.6354A>C (p.Ser2118=) c.2106A>C (p.Ser702=) c.5334A>C (p.Ser1778=) | |
8 | g.99717190A>G | CA462440210 | VPS13B | c.6549A>G (p.Ser2183=) n.6619A>G c.*2231A>G (n.*2231A>G) c.6474A>G (p.Ser2158=) c.6546A>G (p.Ser2182=) c.6471A>G (p.Ser2157=) c.6171A>G (p.Ser2057=) c.3435A>G (p.Ser1145=) c.2328A>G (p.Ser776=) c.6354A>G (p.Ser2118=) c.2106A>G (p.Ser702=) c.5334A>G (p.Ser1778=) | |
8 | g.99717190A>T | CA462440208 | VPS13B | c.6549A>T (p.Ser2183=) n.6619A>T c.*2231A>T (n.*2231A>T) c.6474A>T (p.Ser2158=) c.6546A>T (p.Ser2182=) c.6471A>T (p.Ser2157=) c.6171A>T (p.Ser2057=) c.3435A>T (p.Ser1145=) c.2328A>T (p.Ser776=) c.6354A>T (p.Ser2118=) c.2106A>T (p.Ser702=) c.5334A>T (p.Ser1778=) | |
8 | g.99717191T>A | CA371867114 | VPS13B | c.6550T>A (p.Phe2184Ile) n.6620T>A c.*2232T>A (n.*2232T>A) c.6475T>A (p.Phe2159Ile) c.6547T>A (p.Phe2183Ile) c.6472T>A (p.Phe2158Ile) c.6172T>A (p.Phe2058Ile) c.3436T>A (p.Phe1146Ile) c.2329T>A (p.Phe777Ile) c.6355T>A (p.Phe2119Ile) c.2107T>A (p.Phe703Ile) c.5335T>A (p.Phe1779Ile) | |
8 | g.99717191T>C | CA371867116 | VPS13B | c.6550T>C (p.Phe2184Leu) n.6620T>C c.*2232T>C (n.*2232T>C) c.6475T>C (p.Phe2159Leu) c.6547T>C (p.Phe2183Leu) c.6472T>C (p.Phe2158Leu) c.6172T>C (p.Phe2058Leu) c.3436T>C (p.Phe1146Leu) c.2329T>C (p.Phe777Leu) c.6355T>C (p.Phe2119Leu) c.2107T>C (p.Phe703Leu) c.5335T>C (p.Phe1779Leu) | |
8 | g.99717191T>G | CA371867115 | VPS13B | c.6550T>G (p.Phe2184Val) n.6620T>G c.*2232T>G (n.*2232T>G) c.6475T>G (p.Phe2159Val) c.6547T>G (p.Phe2183Val) c.6472T>G (p.Phe2158Val) c.6172T>G (p.Phe2058Val) c.3436T>G (p.Phe1146Val) c.2329T>G (p.Phe777Val) c.6355T>G (p.Phe2119Val) c.2107T>G (p.Phe703Val) c.5335T>G (p.Phe1779Val) | |
8 | g.99717193dup | CA2688067385 | VPS13B | c.6552dup (p.Leu2185SerfsTer10) n.6622dup c.*2234dup (n.*2234dup) c.6477dup (p.Leu2160SerfsTer10) c.6549dup (p.Leu2184SerfsTer10) c.6474dup (p.Leu2159SerfsTer10) c.6174dup (p.Leu2059SerfsTer10) c.3438dup (p.Leu1147SerfsTer10) c.2331dup (p.Leu778SerfsTer10) c.6357dup (p.Leu2120SerfsTer10) c.2109dup (p.Leu704SerfsTer10) c.5337dup (p.Leu1780SerfsTer10) | gnomAD v4 |
8 | g.99717192T>A | CA371867117 | VPS13B | c.6551T>A (p.Phe2184Tyr) n.6621T>A c.*2233T>A (n.*2233T>A) c.6476T>A (p.Phe2159Tyr) c.6548T>A (p.Phe2183Tyr) c.6473T>A (p.Phe2158Tyr) c.6173T>A (p.Phe2058Tyr) c.3437T>A (p.Phe1146Tyr) c.2330T>A (p.Phe777Tyr) c.6356T>A (p.Phe2119Tyr) c.2108T>A (p.Phe703Tyr) c.5336T>A (p.Phe1779Tyr) | |
8 | g.99717192T>C | CA371867118 | VPS13B | c.6551T>C (p.Phe2184Ser) n.6621T>C c.*2233T>C (n.*2233T>C) c.6476T>C (p.Phe2159Ser) c.6548T>C (p.Phe2183Ser) c.6473T>C (p.Phe2158Ser) c.6173T>C (p.Phe2058Ser) c.3437T>C (p.Phe1146Ser) c.2330T>C (p.Phe777Ser) c.6356T>C (p.Phe2119Ser) c.2108T>C (p.Phe703Ser) c.5336T>C (p.Phe1779Ser) | |
8 | g.99717192T>G | CA371867119 | VPS13B | c.6551T>G (p.Phe2184Cys) n.6621T>G c.*2233T>G (n.*2233T>G) c.6476T>G (p.Phe2159Cys) c.6548T>G (p.Phe2183Cys) c.6473T>G (p.Phe2158Cys) c.6173T>G (p.Phe2058Cys) c.3437T>G (p.Phe1146Cys) c.2330T>G (p.Phe777Cys) c.6356T>G (p.Phe2119Cys) c.2108T>G (p.Phe703Cys) c.5336T>G (p.Phe1779Cys) | |
8 | g.99717193T>A | CA371867120 | VPS13B | c.6552T>A (p.Phe2184Leu) n.6622T>A c.*2234T>A (n.*2234T>A) c.6477T>A (p.Phe2159Leu) c.6549T>A (p.Phe2183Leu) c.6474T>A (p.Phe2158Leu) c.6174T>A (p.Phe2058Leu) c.3438T>A (p.Phe1146Leu) c.2331T>A (p.Phe777Leu) c.6357T>A (p.Phe2119Leu) c.2109T>A (p.Phe703Leu) c.5337T>A (p.Phe1779Leu) | |
8 | g.99717193T>C | CA462440213 | VPS13B | c.6552T>C (p.Phe2184=) n.6622T>C c.*2234T>C (n.*2234T>C) c.6477T>C (p.Phe2159=) c.6549T>C (p.Phe2183=) c.6474T>C (p.Phe2158=) c.6174T>C (p.Phe2058=) c.3438T>C (p.Phe1146=) c.2331T>C (p.Phe777=) c.6357T>C (p.Phe2119=) c.2109T>C (p.Phe703=) c.5337T>C (p.Phe1779=) | |
8 | g.99717193T>G | CA371867121 | VPS13B | c.6552T>G (p.Phe2184Leu) n.6622T>G c.*2234T>G (n.*2234T>G) c.6477T>G (p.Phe2159Leu) c.6549T>G (p.Phe2183Leu) c.6474T>G (p.Phe2158Leu) c.6174T>G (p.Phe2058Leu) c.3438T>G (p.Phe1146Leu) c.2331T>G (p.Phe777Leu) c.6357T>G (p.Phe2119Leu) c.2109T>G (p.Phe703Leu) c.5337T>G (p.Phe1779Leu) | |
8 | g.99717194C>A | CA371867122 | VPS13B | c.6553C>A (p.Leu2185Ile) n.6623C>A c.*2235C>A (n.*2235C>A) c.6478C>A (p.Leu2160Ile) c.6550C>A (p.Leu2184Ile) c.6475C>A (p.Leu2159Ile) c.6175C>A (p.Leu2059Ile) c.3439C>A (p.Leu1147Ile) c.2332C>A (p.Leu778Ile) c.6358C>A (p.Leu2120Ile) c.2110C>A (p.Leu704Ile) c.5338C>A (p.Leu1780Ile) | gnomAD v4 |
8 | g.99717194C>G | CA371867123 | VPS13B | c.6553C>G (p.Leu2185Val) n.6623C>G c.*2235C>G (n.*2235C>G) c.6478C>G (p.Leu2160Val) c.6550C>G (p.Leu2184Val) c.6475C>G (p.Leu2159Val) c.6175C>G (p.Leu2059Val) c.3439C>G (p.Leu1147Val) c.2332C>G (p.Leu778Val) c.6358C>G (p.Leu2120Val) c.2110C>G (p.Leu704Val) c.5338C>G (p.Leu1780Val) | |
8 | g.99717194C>T | CA462440214 | VPS13B | c.6553C>T (p.Leu2185=) n.6623C>T c.*2235C>T (n.*2235C>T) c.6478C>T (p.Leu2160=) c.6550C>T (p.Leu2184=) c.6475C>T (p.Leu2159=) c.6175C>T (p.Leu2059=) c.3439C>T (p.Leu1147=) c.2332C>T (p.Leu778=) c.6358C>T (p.Leu2120=) c.2110C>T (p.Leu704=) c.5338C>T (p.Leu1780=) | |
8 | g.99717195T>A | CA371867124 | VPS13B | c.6554T>A (p.Leu2185Gln) n.6624T>A c.*2236T>A (n.*2236T>A) c.6479T>A (p.Leu2160Gln) c.6551T>A (p.Leu2184Gln) c.6476T>A (p.Leu2159Gln) c.6176T>A (p.Leu2059Gln) c.3440T>A (p.Leu1147Gln) c.2333T>A (p.Leu778Gln) c.6359T>A (p.Leu2120Gln) c.2111T>A (p.Leu704Gln) c.5339T>A (p.Leu1780Gln) | |
8 | g.99717195T>C | CA371867125 | VPS13B | c.6554T>C (p.Leu2185Pro) n.6624T>C c.*2236T>C (n.*2236T>C) c.6479T>C (p.Leu2160Pro) c.6551T>C (p.Leu2184Pro) c.6476T>C (p.Leu2159Pro) c.6176T>C (p.Leu2059Pro) c.3440T>C (p.Leu1147Pro) c.2333T>C (p.Leu778Pro) c.6359T>C (p.Leu2120Pro) c.2111T>C (p.Leu704Pro) c.5339T>C (p.Leu1780Pro) | |
8 | g.99717195T>G | CA371867126 | VPS13B | c.6554T>G (p.Leu2185Arg) n.6624T>G c.*2236T>G (n.*2236T>G) c.6479T>G (p.Leu2160Arg) c.6551T>G (p.Leu2184Arg) c.6476T>G (p.Leu2159Arg) c.6176T>G (p.Leu2059Arg) c.3440T>G (p.Leu1147Arg) c.2333T>G (p.Leu778Arg) c.6359T>G (p.Leu2120Arg) c.2111T>G (p.Leu704Arg) c.5339T>G (p.Leu1780Arg) | |
8 | g.99717196A>C | CA462440215 | VPS13B | c.6555A>C (p.Leu2185=) n.6625A>C c.*2237A>C (n.*2237A>C) c.6480A>C (p.Leu2160=) c.6552A>C (p.Leu2184=) c.6477A>C (p.Leu2159=) c.6177A>C (p.Leu2059=) c.3441A>C (p.Leu1147=) c.2334A>C (p.Leu778=) c.6360A>C (p.Leu2120=) c.2112A>C (p.Leu704=) c.5340A>C (p.Leu1780=) | dbSNP |
8 | g.99717196A>G | CA462440217 | VPS13B | c.6555A>G (p.Leu2185=) n.6625A>G c.*2237A>G (n.*2237A>G) c.6480A>G (p.Leu2160=) c.6552A>G (p.Leu2184=) c.6477A>G (p.Leu2159=) c.6177A>G (p.Leu2059=) c.3441A>G (p.Leu1147=) c.2334A>G (p.Leu778=) c.6360A>G (p.Leu2120=) c.2112A>G (p.Leu704=) c.5340A>G (p.Leu1780=) | |
8 | g.99717196A>T | CA462440218 | VPS13B | c.6555A>T (p.Leu2185=) n.6625A>T c.*2237A>T (n.*2237A>T) c.6480A>T (p.Leu2160=) c.6552A>T (p.Leu2184=) c.6477A>T (p.Leu2159=) c.6177A>T (p.Leu2059=) c.3441A>T (p.Leu1147=) c.2334A>T (p.Leu778=) c.6360A>T (p.Leu2120=) c.2112A>T (p.Leu704=) c.5340A>T (p.Leu1780=) | |
8 | g.99717197C>A | CA371867129 | VPS13B | c.6556C>A (p.Leu2186Ile) n.6626C>A c.*2238C>A (n.*2238C>A) c.6481C>A (p.Leu2161Ile) c.6553C>A (p.Leu2185Ile) c.6478C>A (p.Leu2160Ile) c.6178C>A (p.Leu2060Ile) c.3442C>A (p.Leu1148Ile) c.2335C>A (p.Leu779Ile) c.6361C>A (p.Leu2121Ile) c.2113C>A (p.Leu705Ile) c.5341C>A (p.Leu1781Ile) | |
8 | g.99717197C>G | CA371867128 | VPS13B | c.6556C>G (p.Leu2186Val) n.6626C>G c.*2238C>G (n.*2238C>G) c.6481C>G (p.Leu2161Val) c.6553C>G (p.Leu2185Val) c.6478C>G (p.Leu2160Val) c.6178C>G (p.Leu2060Val) c.3442C>G (p.Leu1148Val) c.2335C>G (p.Leu779Val) c.6361C>G (p.Leu2121Val) c.2113C>G (p.Leu705Val) c.5341C>G (p.Leu1781Val) | |
8 | g.99717197C>T | CA371867127 | VPS13B | c.6556C>T (p.Leu2186Phe) n.6626C>T c.*2238C>T (n.*2238C>T) c.6481C>T (p.Leu2161Phe) c.6553C>T (p.Leu2185Phe) c.6478C>T (p.Leu2160Phe) c.6178C>T (p.Leu2060Phe) c.3442C>T (p.Leu1148Phe) c.2335C>T (p.Leu779Phe) c.6361C>T (p.Leu2121Phe) c.2113C>T (p.Leu705Phe) c.5341C>T (p.Leu1781Phe) | gnomAD v4 |
8 | g.99717198T>A | CA371867130 | VPS13B | c.6557T>A (p.Leu2186His) n.6627T>A c.*2239T>A (n.*2239T>A) c.6482T>A (p.Leu2161His) c.6554T>A (p.Leu2185His) c.6479T>A (p.Leu2160His) c.6179T>A (p.Leu2060His) c.3443T>A (p.Leu1148His) c.2336T>A (p.Leu779His) c.6362T>A (p.Leu2121His) c.2114T>A (p.Leu705His) c.5342T>A (p.Leu1781His) | |
8 | g.99717198T>C | CA371867131 | VPS13B | c.6557T>C (p.Leu2186Pro) n.6627T>C c.*2239T>C (n.*2239T>C) c.6482T>C (p.Leu2161Pro) c.6554T>C (p.Leu2185Pro) c.6479T>C (p.Leu2160Pro) c.6179T>C (p.Leu2060Pro) c.3443T>C (p.Leu1148Pro) c.2336T>C (p.Leu779Pro) c.6362T>C (p.Leu2121Pro) c.2114T>C (p.Leu705Pro) c.5342T>C (p.Leu1781Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717198T>G | CA371867132 | VPS13B | c.6557T>G (p.Leu2186Arg) n.6627T>G c.*2239T>G (n.*2239T>G) c.6482T>G (p.Leu2161Arg) c.6554T>G (p.Leu2185Arg) c.6479T>G (p.Leu2160Arg) c.6179T>G (p.Leu2060Arg) c.3443T>G (p.Leu1148Arg) c.2336T>G (p.Leu779Arg) c.6362T>G (p.Leu2121Arg) c.2114T>G (p.Leu705Arg) c.5342T>G (p.Leu1781Arg) | |
8 | g.99717199C>A | CA462440219 | VPS13B | c.6558C>A (p.Leu2186=) n.6628C>A c.*2240C>A (n.*2240C>A) c.6483C>A (p.Leu2161=) c.6555C>A (p.Leu2185=) c.6480C>A (p.Leu2160=) c.6180C>A (p.Leu2060=) c.3444C>A (p.Leu1148=) c.2337C>A (p.Leu779=) c.6363C>A (p.Leu2121=) c.2115C>A (p.Leu705=) c.5343C>A (p.Leu1781=) | ClinVar dbSNP |
8 | g.99717199C>G | CA462440220 | VPS13B | c.6558C>G (p.Leu2186=) n.6628C>G c.*2240C>G (n.*2240C>G) c.6483C>G (p.Leu2161=) c.6555C>G (p.Leu2185=) c.6480C>G (p.Leu2160=) c.6180C>G (p.Leu2060=) c.3444C>G (p.Leu1148=) c.2337C>G (p.Leu779=) c.6363C>G (p.Leu2121=) c.2115C>G (p.Leu705=) c.5343C>G (p.Leu1781=) | |
8 | g.99717199C>T | CA462440221 | VPS13B | c.6558C>T (p.Leu2186=) n.6628C>T c.*2240C>T (n.*2240C>T) c.6483C>T (p.Leu2161=) c.6555C>T (p.Leu2185=) c.6480C>T (p.Leu2160=) c.6180C>T (p.Leu2060=) c.3444C>T (p.Leu1148=) c.2337C>T (p.Leu779=) c.6363C>T (p.Leu2121=) c.2115C>T (p.Leu705=) c.5343C>T (p.Leu1781=) | ClinVar |
8 | g.99717200A>C | CA371867133 | VPS13B | c.6559A>C (p.Ser2187Arg) n.6629A>C c.*2241A>C (n.*2241A>C) c.6484A>C (p.Ser2162Arg) c.6556A>C (p.Ser2186Arg) c.6481A>C (p.Ser2161Arg) c.6181A>C (p.Ser2061Arg) c.3445A>C (p.Ser1149Arg) c.2338A>C (p.Ser780Arg) c.6364A>C (p.Ser2122Arg) c.2116A>C (p.Ser706Arg) c.5344A>C (p.Ser1782Arg) | |
8 | g.99717200A>G | CA371867134 | VPS13B | c.6559A>G (p.Ser2187Gly) n.6629A>G c.*2241A>G (n.*2241A>G) c.6484A>G (p.Ser2162Gly) c.6556A>G (p.Ser2186Gly) c.6481A>G (p.Ser2161Gly) c.6181A>G (p.Ser2061Gly) c.3445A>G (p.Ser1149Gly) c.2338A>G (p.Ser780Gly) c.6364A>G (p.Ser2122Gly) c.2116A>G (p.Ser706Gly) c.5344A>G (p.Ser1782Gly) | |
8 | g.99717200A>T | CA371867135 | VPS13B | c.6559A>T (p.Ser2187Cys) n.6629A>T c.*2241A>T (n.*2241A>T) c.6484A>T (p.Ser2162Cys) c.6556A>T (p.Ser2186Cys) c.6481A>T (p.Ser2161Cys) c.6181A>T (p.Ser2061Cys) c.3445A>T (p.Ser1149Cys) c.2338A>T (p.Ser780Cys) c.6364A>T (p.Ser2122Cys) c.2116A>T (p.Ser706Cys) c.5344A>T (p.Ser1782Cys) | |
8 | g.99717201G>A | CA371867136 | VPS13B | c.6560G>A (p.Ser2187Asn) n.6630G>A c.*2242G>A (n.*2242G>A) c.6485G>A (p.Ser2162Asn) c.6557G>A (p.Ser2186Asn) c.6482G>A (p.Ser2161Asn) c.6182G>A (p.Ser2061Asn) c.3446G>A (p.Ser1149Asn) c.2339G>A (p.Ser780Asn) c.6365G>A (p.Ser2122Asn) c.2117G>A (p.Ser706Asn) c.5345G>A (p.Ser1782Asn) | |
8 | g.99717201G>C | CA371867137 | VPS13B | c.6560G>C (p.Ser2187Thr) n.6630G>C c.*2242G>C (n.*2242G>C) c.6485G>C (p.Ser2162Thr) c.6557G>C (p.Ser2186Thr) c.6482G>C (p.Ser2161Thr) c.6182G>C (p.Ser2061Thr) c.3446G>C (p.Ser1149Thr) c.2339G>C (p.Ser780Thr) c.6365G>C (p.Ser2122Thr) c.2117G>C (p.Ser706Thr) c.5345G>C (p.Ser1782Thr) | |
8 | g.99717201G>T | CA371867138 | VPS13B | c.6560G>T (p.Ser2187Ile) n.6630G>T c.*2242G>T (n.*2242G>T) c.6485G>T (p.Ser2162Ile) c.6557G>T (p.Ser2186Ile) c.6482G>T (p.Ser2161Ile) c.6182G>T (p.Ser2061Ile) c.3446G>T (p.Ser1149Ile) c.2339G>T (p.Ser780Ile) c.6365G>T (p.Ser2122Ile) c.2117G>T (p.Ser706Ile) c.5345G>T (p.Ser1782Ile) | |
8 | g.99717202T>A | CA371867139 | VPS13B | c.6561T>A (p.Ser2187Arg) n.6631T>A c.*2243T>A (n.*2243T>A) c.6486T>A (p.Ser2162Arg) c.6558T>A (p.Ser2186Arg) c.6483T>A (p.Ser2161Arg) c.6183T>A (p.Ser2061Arg) c.3447T>A (p.Ser1149Arg) c.2340T>A (p.Ser780Arg) c.6366T>A (p.Ser2122Arg) c.2118T>A (p.Ser706Arg) c.5346T>A (p.Ser1782Arg) | |
8 | g.99717202T>C | CA462440222 | VPS13B | c.6561T>C (p.Ser2187=) n.6631T>C c.*2243T>C (n.*2243T>C) c.6486T>C (p.Ser2162=) c.6558T>C (p.Ser2186=) c.6483T>C (p.Ser2161=) c.6183T>C (p.Ser2061=) c.3447T>C (p.Ser1149=) c.2340T>C (p.Ser780=) c.6366T>C (p.Ser2122=) c.2118T>C (p.Ser706=) c.5346T>C (p.Ser1782=) | |
8 | g.99717202T>G | CA371867140 | VPS13B | c.6561T>G (p.Ser2187Arg) n.6631T>G c.*2243T>G (n.*2243T>G) c.6486T>G (p.Ser2162Arg) c.6558T>G (p.Ser2186Arg) c.6483T>G (p.Ser2161Arg) c.6183T>G (p.Ser2061Arg) c.3447T>G (p.Ser1149Arg) c.2340T>G (p.Ser780Arg) c.6366T>G (p.Ser2122Arg) c.2118T>G (p.Ser706Arg) c.5346T>G (p.Ser1782Arg) | |
8 | g.99717203A>C | CA371867142 | VPS13B | c.6562A>C (p.Ile2188Leu) n.6632A>C c.*2244A>C (n.*2244A>C) c.6487A>C (p.Ile2163Leu) c.6559A>C (p.Ile2187Leu) c.6484A>C (p.Ile2162Leu) c.6184A>C (p.Ile2062Leu) c.3448A>C (p.Ile1150Leu) c.2341A>C (p.Ile781Leu) c.6367A>C (p.Ile2123Leu) c.2119A>C (p.Ile707Leu) c.5347A>C (p.Ile1783Leu) | |
8 | g.99717203A>G | CA244900 | VPS13B | c.6562A>G (p.Ile2188Val) n.6632A>G c.*2244A>G (n.*2244A>G) c.6487A>G (p.Ile2163Val) c.6559A>G (p.Ile2187Val) c.6484A>G (p.Ile2162Val) c.6184A>G (p.Ile2062Val) c.3448A>G (p.Ile1150Val) c.2341A>G (p.Ile781Val) c.6367A>G (p.Ile2123Val) c.2119A>G (p.Ile707Val) c.5347A>G (p.Ile1783Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99717203A>T | CA371867141 | VPS13B | c.6562A>T (p.Ile2188Leu) n.6632A>T c.*2244A>T (n.*2244A>T) c.6487A>T (p.Ile2163Leu) c.6559A>T (p.Ile2187Leu) c.6484A>T (p.Ile2162Leu) c.6184A>T (p.Ile2062Leu) c.3448A>T (p.Ile1150Leu) c.2341A>T (p.Ile781Leu) c.6367A>T (p.Ile2123Leu) c.2119A>T (p.Ile707Leu) c.5347A>T (p.Ile1783Leu) | |
8 | g.99717204T>A | CA371867143 | VPS13B | c.6563T>A (p.Ile2188Lys) n.6633T>A c.*2245T>A (n.*2245T>A) c.6488T>A (p.Ile2163Lys) c.6560T>A (p.Ile2187Lys) c.6485T>A (p.Ile2162Lys) c.6185T>A (p.Ile2062Lys) c.3449T>A (p.Ile1150Lys) c.2342T>A (p.Ile781Lys) c.6368T>A (p.Ile2123Lys) c.2120T>A (p.Ile707Lys) c.5348T>A (p.Ile1783Lys) | |
8 | g.99717204T>C | CA371867144 | VPS13B | c.6563T>C (p.Ile2188Thr) n.6633T>C c.*2245T>C (n.*2245T>C) c.6488T>C (p.Ile2163Thr) c.6560T>C (p.Ile2187Thr) c.6485T>C (p.Ile2162Thr) c.6185T>C (p.Ile2062Thr) c.3449T>C (p.Ile1150Thr) c.2342T>C (p.Ile781Thr) c.6368T>C (p.Ile2123Thr) c.2120T>C (p.Ile707Thr) c.5348T>C (p.Ile1783Thr) | |
8 | g.99717204T>G | CA371867145 | VPS13B | c.6563T>G (p.Ile2188Arg) n.6633T>G c.*2245T>G (n.*2245T>G) c.6488T>G (p.Ile2163Arg) c.6560T>G (p.Ile2187Arg) c.6485T>G (p.Ile2162Arg) c.6185T>G (p.Ile2062Arg) c.3449T>G (p.Ile1150Arg) c.2342T>G (p.Ile781Arg) c.6368T>G (p.Ile2123Arg) c.2120T>G (p.Ile707Arg) c.5348T>G (p.Ile1783Arg) | |
8 | g.99717205A>C | CA462440223 | VPS13B | c.6564A>C (p.Ile2188=) n.6634A>C c.*2246A>C (n.*2246A>C) c.6489A>C (p.Ile2163=) c.6561A>C (p.Ile2187=) c.6486A>C (p.Ile2162=) c.6186A>C (p.Ile2062=) c.3450A>C (p.Ile1150=) c.2343A>C (p.Ile781=) c.6369A>C (p.Ile2123=) c.2121A>C (p.Ile707=) c.5349A>C (p.Ile1783=) | |
8 | g.99717205A>G | CA371867146 | VPS13B | c.6564A>G (p.Ile2188Met) n.6634A>G c.*2246A>G (n.*2246A>G) c.6489A>G (p.Ile2163Met) c.6561A>G (p.Ile2187Met) c.6486A>G (p.Ile2162Met) c.6186A>G (p.Ile2062Met) c.3450A>G (p.Ile1150Met) c.2343A>G (p.Ile781Met) c.6369A>G (p.Ile2123Met) c.2121A>G (p.Ile707Met) c.5349A>G (p.Ile1783Met) | |
8 | g.99717205A>T | CA462440224 | VPS13B | c.6564A>T (p.Ile2188=) n.6634A>T c.*2246A>T (n.*2246A>T) c.6489A>T (p.Ile2163=) c.6561A>T (p.Ile2187=) c.6486A>T (p.Ile2162=) c.6186A>T (p.Ile2062=) c.3450A>T (p.Ile1150=) c.2343A>T (p.Ile781=) c.6369A>T (p.Ile2123=) c.2121A>T (p.Ile707=) c.5349A>T (p.Ile1783=) | |
8 | g.99717207del | CA4824012 | VPS13B | c.6566del (p.Asn2189ThrfsTer16) n.6636del c.*2248del (n.*2248del) c.6491del (p.Asn2164ThrfsTer16) c.6563del (p.Asn2188ThrfsTer16) c.6488del (p.Asn2163ThrfsTer16) c.6188del (p.Asn2063ThrfsTer16) c.3452del (p.Asn1151ThrfsTer16) c.2345del (p.Asn782ThrfsTer16) c.6371del (p.Asn2124ThrfsTer16) c.2123del (p.Asn708ThrfsTer16) c.5351del (p.Asn1784ThrfsTer16) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717206A>C | CA371867147 | VPS13B | c.6565A>C (p.Asn2189His) n.6635A>C c.*2247A>C (n.*2247A>C) c.6490A>C (p.Asn2164His) c.6562A>C (p.Asn2188His) c.6487A>C (p.Asn2163His) c.6187A>C (p.Asn2063His) c.3451A>C (p.Asn1151His) c.2344A>C (p.Asn782His) c.6370A>C (p.Asn2124His) c.2122A>C (p.Asn708His) c.5350A>C (p.Asn1784His) | |
8 | g.99717206A>G | CA4824013 | VPS13B | c.6565A>G (p.Asn2189Asp) n.6635A>G c.*2247A>G (n.*2247A>G) c.6490A>G (p.Asn2164Asp) c.6562A>G (p.Asn2188Asp) c.6487A>G (p.Asn2163Asp) c.6187A>G (p.Asn2063Asp) c.3451A>G (p.Asn1151Asp) c.2344A>G (p.Asn782Asp) c.6370A>G (p.Asn2124Asp) c.2122A>G (p.Asn708Asp) c.5350A>G (p.Asn1784Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717206A>T | CA371867148 | VPS13B | c.6565A>T (p.Asn2189Tyr) n.6635A>T c.*2247A>T (n.*2247A>T) c.6490A>T (p.Asn2164Tyr) c.6562A>T (p.Asn2188Tyr) c.6487A>T (p.Asn2163Tyr) c.6187A>T (p.Asn2063Tyr) c.3451A>T (p.Asn1151Tyr) c.2344A>T (p.Asn782Tyr) c.6370A>T (p.Asn2124Tyr) c.2122A>T (p.Asn708Tyr) c.5350A>T (p.Asn1784Tyr) | |
8 | g.99717207A>C | CA371867149 | VPS13B | c.6566A>C (p.Asn2189Thr) n.6636A>C c.*2248A>C (n.*2248A>C) c.6491A>C (p.Asn2164Thr) c.6563A>C (p.Asn2188Thr) c.6488A>C (p.Asn2163Thr) c.6188A>C (p.Asn2063Thr) c.3452A>C (p.Asn1151Thr) c.2345A>C (p.Asn782Thr) c.6371A>C (p.Asn2124Thr) c.2123A>C (p.Asn708Thr) c.5351A>C (p.Asn1784Thr) | |
8 | g.99717207A>G | CA371867150 | VPS13B | c.6566A>G (p.Asn2189Ser) n.6636A>G c.*2248A>G (n.*2248A>G) c.6491A>G (p.Asn2164Ser) c.6563A>G (p.Asn2188Ser) c.6488A>G (p.Asn2163Ser) c.6188A>G (p.Asn2063Ser) c.3452A>G (p.Asn1151Ser) c.2345A>G (p.Asn782Ser) c.6371A>G (p.Asn2124Ser) c.2123A>G (p.Asn708Ser) c.5351A>G (p.Asn1784Ser) | |
8 | g.99717207A>T | CA371867151 | VPS13B | c.6566A>T (p.Asn2189Ile) n.6636A>T c.*2248A>T (n.*2248A>T) c.6491A>T (p.Asn2164Ile) c.6563A>T (p.Asn2188Ile) c.6488A>T (p.Asn2163Ile) c.6188A>T (p.Asn2063Ile) c.3452A>T (p.Asn1151Ile) c.2345A>T (p.Asn782Ile) c.6371A>T (p.Asn2124Ile) c.2123A>T (p.Asn708Ile) c.5351A>T (p.Asn1784Ile) | |
8 | g.99717208C>A | CA371867152 | VPS13B | c.6567C>A (p.Asn2189Lys) n.6637C>A c.*2249C>A (n.*2249C>A) c.6492C>A (p.Asn2164Lys) c.6564C>A (p.Asn2188Lys) c.6489C>A (p.Asn2163Lys) c.6189C>A (p.Asn2063Lys) c.3453C>A (p.Asn1151Lys) c.2346C>A (p.Asn782Lys) c.6372C>A (p.Asn2124Lys) c.2124C>A (p.Asn708Lys) c.5352C>A (p.Asn1784Lys) | |
8 | g.99717208C>G | CA371867153 | VPS13B | c.6567C>G (p.Asn2189Lys) n.6637C>G c.*2249C>G (n.*2249C>G) c.6492C>G (p.Asn2164Lys) c.6564C>G (p.Asn2188Lys) c.6489C>G (p.Asn2163Lys) c.6189C>G (p.Asn2063Lys) c.3453C>G (p.Asn1151Lys) c.2346C>G (p.Asn782Lys) c.6372C>G (p.Asn2124Lys) c.2124C>G (p.Asn708Lys) c.5352C>G (p.Asn1784Lys) | gnomAD v4 |
8 | g.99717208C>T | CA4824014 | VPS13B | c.6567C>T (p.Asn2189=) n.6637C>T c.*2249C>T (n.*2249C>T) c.6492C>T (p.Asn2164=) c.6564C>T (p.Asn2188=) c.6489C>T (p.Asn2163=) c.6189C>T (p.Asn2063=) c.3453C>T (p.Asn1151=) c.2346C>T (p.Asn782=) c.6372C>T (p.Asn2124=) c.2124C>T (p.Asn708=) c.5352C>T (p.Asn1784=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717209G>A | CA4824015 | VPS13B | c.6568G>A (p.Asp2190Asn) n.6638G>A c.*2250G>A (n.*2250G>A) c.6493G>A (p.Asp2165Asn) c.6565G>A (p.Asp2189Asn) c.6490G>A (p.Asp2164Asn) c.6190G>A (p.Asp2064Asn) c.3454G>A (p.Asp1152Asn) c.2347G>A (p.Asp783Asn) c.6373G>A (p.Asp2125Asn) c.2125G>A (p.Asp709Asn) c.5353G>A (p.Asp1785Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717209G>C | CA371867154 | VPS13B | c.6568G>C (p.Asp2190His) n.6638G>C c.*2250G>C (n.*2250G>C) c.6493G>C (p.Asp2165His) c.6565G>C (p.Asp2189His) c.6490G>C (p.Asp2164His) c.6190G>C (p.Asp2064His) c.3454G>C (p.Asp1152His) c.2347G>C (p.Asp783His) c.6373G>C (p.Asp2125His) c.2125G>C (p.Asp709His) c.5353G>C (p.Asp1785His) | gnomAD v4 |
8 | g.99717209G>T | CA371867155 | VPS13B | c.6568G>T (p.Asp2190Tyr) n.6638G>T c.*2250G>T (n.*2250G>T) c.6493G>T (p.Asp2165Tyr) c.6565G>T (p.Asp2189Tyr) c.6490G>T (p.Asp2164Tyr) c.6190G>T (p.Asp2064Tyr) c.3454G>T (p.Asp1152Tyr) c.2347G>T (p.Asp783Tyr) c.6373G>T (p.Asp2125Tyr) c.2125G>T (p.Asp709Tyr) c.5353G>T (p.Asp1785Tyr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99717210A>C | CA371867156 | VPS13B | c.6569A>C (p.Asp2190Ala) n.6639A>C c.*2251A>C (n.*2251A>C) c.6494A>C (p.Asp2165Ala) c.6566A>C (p.Asp2189Ala) c.6491A>C (p.Asp2164Ala) c.6191A>C (p.Asp2064Ala) c.3455A>C (p.Asp1152Ala) c.2348A>C (p.Asp783Ala) c.6374A>C (p.Asp2125Ala) c.2126A>C (p.Asp709Ala) c.5354A>C (p.Asp1785Ala) | |
8 | g.99717210A>G | CA371867157 | VPS13B | c.6569A>G (p.Asp2190Gly) n.6639A>G c.*2251A>G (n.*2251A>G) c.6494A>G (p.Asp2165Gly) c.6566A>G (p.Asp2189Gly) c.6491A>G (p.Asp2164Gly) c.6191A>G (p.Asp2064Gly) c.3455A>G (p.Asp1152Gly) c.2348A>G (p.Asp783Gly) c.6374A>G (p.Asp2125Gly) c.2126A>G (p.Asp709Gly) c.5354A>G (p.Asp1785Gly) | gnomAD v4 |
8 | g.99717210A>T | CA4824016 | VPS13B | c.6569A>T (p.Asp2190Val) n.6639A>T c.*2251A>T (n.*2251A>T) c.6494A>T (p.Asp2165Val) c.6566A>T (p.Asp2189Val) c.6491A>T (p.Asp2164Val) c.6191A>T (p.Asp2064Val) c.3455A>T (p.Asp1152Val) c.2348A>T (p.Asp783Val) c.6374A>T (p.Asp2125Val) c.2126A>T (p.Asp709Val) c.5354A>T (p.Asp1785Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717211T>A | CA371867158 | VPS13B | c.6570T>A (p.Asp2190Glu) n.6640T>A c.*2252T>A (n.*2252T>A) c.6495T>A (p.Asp2165Glu) c.6567T>A (p.Asp2189Glu) c.6492T>A (p.Asp2164Glu) c.6192T>A (p.Asp2064Glu) c.3456T>A (p.Asp1152Glu) c.2349T>A (p.Asp783Glu) c.6375T>A (p.Asp2125Glu) c.2127T>A (p.Asp709Glu) c.5355T>A (p.Asp1785Glu) | |
8 | g.99717211T>C | CA462440225 | VPS13B | c.6570T>C (p.Asp2190=) n.6640T>C c.*2252T>C (n.*2252T>C) c.6495T>C (p.Asp2165=) c.6567T>C (p.Asp2189=) c.6492T>C (p.Asp2164=) c.6192T>C (p.Asp2064=) c.3456T>C (p.Asp1152=) c.2349T>C (p.Asp783=) c.6375T>C (p.Asp2125=) c.2127T>C (p.Asp709=) c.5355T>C (p.Asp1785=) | |
8 | g.99717211T>G | CA371867159 | VPS13B | c.6570T>G (p.Asp2190Glu) n.6640T>G c.*2252T>G (n.*2252T>G) c.6495T>G (p.Asp2165Glu) c.6567T>G (p.Asp2189Glu) c.6492T>G (p.Asp2164Glu) c.6192T>G (p.Asp2064Glu) c.3456T>G (p.Asp1152Glu) c.2349T>G (p.Asp783Glu) c.6375T>G (p.Asp2125Glu) c.2127T>G (p.Asp709Glu) c.5355T>G (p.Asp1785Glu) | |
8 | g.99717212T>A | CA371867160 | VPS13B | c.6571T>A (p.Phe2191Ile) n.6641T>A c.*2253T>A (n.*2253T>A) c.6496T>A (p.Phe2166Ile) c.6568T>A (p.Phe2190Ile) c.6493T>A (p.Phe2165Ile) c.6193T>A (p.Phe2065Ile) c.3457T>A (p.Phe1153Ile) c.2350T>A (p.Phe784Ile) c.6376T>A (p.Phe2126Ile) c.2128T>A (p.Phe710Ile) c.5356T>A (p.Phe1786Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717212T>C | CA371867161 | VPS13B | c.6571T>C (p.Phe2191Leu) n.6641T>C c.*2253T>C (n.*2253T>C) c.6496T>C (p.Phe2166Leu) c.6568T>C (p.Phe2190Leu) c.6493T>C (p.Phe2165Leu) c.6193T>C (p.Phe2065Leu) c.3457T>C (p.Phe1153Leu) c.2350T>C (p.Phe784Leu) c.6376T>C (p.Phe2126Leu) c.2128T>C (p.Phe710Leu) c.5356T>C (p.Phe1786Leu) | |
8 | g.99717212T>G | CA371867162 | VPS13B | c.6571T>G (p.Phe2191Val) n.6641T>G c.*2253T>G (n.*2253T>G) c.6496T>G (p.Phe2166Val) c.6568T>G (p.Phe2190Val) c.6493T>G (p.Phe2165Val) c.6193T>G (p.Phe2065Val) c.3457T>G (p.Phe1153Val) c.2350T>G (p.Phe784Val) c.6376T>G (p.Phe2126Val) c.2128T>G (p.Phe710Val) c.5356T>G (p.Phe1786Val) | dbSNP |
8 | g.99717213T>A | CA371867163 | VPS13B | c.6572T>A (p.Phe2191Tyr) n.6642T>A c.*2254T>A (n.*2254T>A) c.6497T>A (p.Phe2166Tyr) c.6569T>A (p.Phe2190Tyr) c.6494T>A (p.Phe2165Tyr) c.6194T>A (p.Phe2065Tyr) c.3458T>A (p.Phe1153Tyr) c.2351T>A (p.Phe784Tyr) c.6377T>A (p.Phe2126Tyr) c.2129T>A (p.Phe710Tyr) c.5357T>A (p.Phe1786Tyr) | |
8 | g.99717213T>C | CA371867164 | VPS13B | c.6572T>C (p.Phe2191Ser) n.6642T>C c.*2254T>C (n.*2254T>C) c.6497T>C (p.Phe2166Ser) c.6569T>C (p.Phe2190Ser) c.6494T>C (p.Phe2165Ser) c.6194T>C (p.Phe2065Ser) c.3458T>C (p.Phe1153Ser) c.2351T>C (p.Phe784Ser) c.6377T>C (p.Phe2126Ser) c.2129T>C (p.Phe710Ser) c.5357T>C (p.Phe1786Ser) | |
8 | g.99717213T>G | CA371867165 | VPS13B | c.6572T>G (p.Phe2191Cys) n.6642T>G c.*2254T>G (n.*2254T>G) c.6497T>G (p.Phe2166Cys) c.6569T>G (p.Phe2190Cys) c.6494T>G (p.Phe2165Cys) c.6194T>G (p.Phe2065Cys) c.3458T>G (p.Phe1153Cys) c.2351T>G (p.Phe784Cys) c.6377T>G (p.Phe2126Cys) c.2129T>G (p.Phe710Cys) c.5357T>G (p.Phe1786Cys) | |
8 | g.99717214T>A | CA371867167 | VPS13B | c.6573T>A (p.Phe2191Leu) n.6643T>A c.*2255T>A (n.*2255T>A) c.6498T>A (p.Phe2166Leu) c.6570T>A (p.Phe2190Leu) c.6495T>A (p.Phe2165Leu) c.6195T>A (p.Phe2065Leu) c.3459T>A (p.Phe1153Leu) c.2352T>A (p.Phe784Leu) c.6378T>A (p.Phe2126Leu) c.2130T>A (p.Phe710Leu) c.5358T>A (p.Phe1786Leu) | |
8 | g.99717214T>C | CA462440226 | VPS13B | c.6573T>C (p.Phe2191=) n.6643T>C c.*2255T>C (n.*2255T>C) c.6498T>C (p.Phe2166=) c.6570T>C (p.Phe2190=) c.6495T>C (p.Phe2165=) c.6195T>C (p.Phe2065=) c.3459T>C (p.Phe1153=) c.2352T>C (p.Phe784=) c.6378T>C (p.Phe2126=) c.2130T>C (p.Phe710=) c.5358T>C (p.Phe1786=) | |
8 | g.99717214T>G | CA371867166 | VPS13B | c.6573T>G (p.Phe2191Leu) n.6643T>G c.*2255T>G (n.*2255T>G) c.6498T>G (p.Phe2166Leu) c.6570T>G (p.Phe2190Leu) c.6495T>G (p.Phe2165Leu) c.6195T>G (p.Phe2065Leu) c.3459T>G (p.Phe1153Leu) c.2352T>G (p.Phe784Leu) c.6378T>G (p.Phe2126Leu) c.2130T>G (p.Phe710Leu) c.5358T>G (p.Phe1786Leu) | |
8 | g.99717215C>A | CA371867168 | VPS13B | c.6574C>A (p.Leu2192Ile) n.6644C>A c.*2256C>A (n.*2256C>A) c.6499C>A (p.Leu2167Ile) c.6571C>A (p.Leu2191Ile) c.6496C>A (p.Leu2166Ile) c.6196C>A (p.Leu2066Ile) c.3460C>A (p.Leu1154Ile) c.2353C>A (p.Leu785Ile) c.6379C>A (p.Leu2127Ile) c.2131C>A (p.Leu711Ile) c.5359C>A (p.Leu1787Ile) | |
8 | g.99717215C>G | CA371867170 | VPS13B | c.6574C>G (p.Leu2192Val) n.6644C>G c.*2256C>G (n.*2256C>G) c.6499C>G (p.Leu2167Val) c.6571C>G (p.Leu2191Val) c.6496C>G (p.Leu2166Val) c.6196C>G (p.Leu2066Val) c.3460C>G (p.Leu1154Val) c.2353C>G (p.Leu785Val) c.6379C>G (p.Leu2127Val) c.2131C>G (p.Leu711Val) c.5359C>G (p.Leu1787Val) | |
8 | g.99717215C>T | CA371867169 | VPS13B | c.6574C>T (p.Leu2192Phe) n.6644C>T c.*2256C>T (n.*2256C>T) c.6499C>T (p.Leu2167Phe) c.6571C>T (p.Leu2191Phe) c.6496C>T (p.Leu2166Phe) c.6196C>T (p.Leu2066Phe) c.3460C>T (p.Leu1154Phe) c.2353C>T (p.Leu785Phe) c.6379C>T (p.Leu2127Phe) c.2131C>T (p.Leu711Phe) c.5359C>T (p.Leu1787Phe) | dbSNP |
8 | g.99717216T>A | CA371867171 | VPS13B | c.6575T>A (p.Leu2192His) n.6645T>A c.*2257T>A (n.*2257T>A) c.6500T>A (p.Leu2167His) c.6572T>A (p.Leu2191His) c.6497T>A (p.Leu2166His) c.6197T>A (p.Leu2066His) c.3461T>A (p.Leu1154His) c.2354T>A (p.Leu785His) c.6380T>A (p.Leu2127His) c.2132T>A (p.Leu711His) c.5360T>A (p.Leu1787His) | |
8 | g.99717216T>C | CA371867173 | VPS13B | c.6575T>C (p.Leu2192Pro) n.6645T>C c.*2257T>C (n.*2257T>C) c.6500T>C (p.Leu2167Pro) c.6572T>C (p.Leu2191Pro) c.6497T>C (p.Leu2166Pro) c.6197T>C (p.Leu2066Pro) c.3461T>C (p.Leu1154Pro) c.2354T>C (p.Leu785Pro) c.6380T>C (p.Leu2127Pro) c.2132T>C (p.Leu711Pro) c.5360T>C (p.Leu1787Pro) | |
8 | g.99717216T>G | CA371867172 | VPS13B | c.6575T>G (p.Leu2192Arg) n.6645T>G c.*2257T>G (n.*2257T>G) c.6500T>G (p.Leu2167Arg) c.6572T>G (p.Leu2191Arg) c.6497T>G (p.Leu2166Arg) c.6197T>G (p.Leu2066Arg) c.3461T>G (p.Leu1154Arg) c.2354T>G (p.Leu785Arg) c.6380T>G (p.Leu2127Arg) c.2132T>G (p.Leu711Arg) c.5360T>G (p.Leu1787Arg) | |
8 | g.99717217C>A | CA462440227 | VPS13B | c.6576C>A (p.Leu2192=) n.6646C>A c.*2258C>A (n.*2258C>A) c.6501C>A (p.Leu2167=) c.6573C>A (p.Leu2191=) c.6498C>A (p.Leu2166=) c.6198C>A (p.Leu2066=) c.3462C>A (p.Leu1154=) c.2355C>A (p.Leu785=) c.6381C>A (p.Leu2127=) c.2133C>A (p.Leu711=) c.5361C>A (p.Leu1787=) | |
8 | g.99717217C>G | CA462440228 | VPS13B | c.6576C>G (p.Leu2192=) n.6646C>G c.*2258C>G (n.*2258C>G) c.6501C>G (p.Leu2167=) c.6573C>G (p.Leu2191=) c.6498C>G (p.Leu2166=) c.6198C>G (p.Leu2066=) c.3462C>G (p.Leu1154=) c.2355C>G (p.Leu785=) c.6381C>G (p.Leu2127=) c.2133C>G (p.Leu711=) c.5361C>G (p.Leu1787=) | |
8 | g.99717217C>T | CA462440229 | VPS13B | c.6576C>T (p.Leu2192=) n.6646C>T c.*2258C>T (n.*2258C>T) c.6501C>T (p.Leu2167=) c.6573C>T (p.Leu2191=) c.6498C>T (p.Leu2166=) c.6198C>T (p.Leu2066=) c.3462C>T (p.Leu1154=) c.2355C>T (p.Leu785=) c.6381C>T (p.Leu2127=) c.2133C>T (p.Leu711=) c.5361C>T (p.Leu1787=) | dbSNP |
8 | g.99717218C>A | CA371867174 | VPS13B | c.6577C>A (p.Leu2193Ile) n.6647C>A c.*2259C>A (n.*2259C>A) c.6502C>A (p.Leu2168Ile) c.6574C>A (p.Leu2192Ile) c.6499C>A (p.Leu2167Ile) c.6199C>A (p.Leu2067Ile) c.3463C>A (p.Leu1155Ile) c.2356C>A (p.Leu786Ile) c.6382C>A (p.Leu2128Ile) c.2134C>A (p.Leu712Ile) c.5362C>A (p.Leu1788Ile) | dbSNP |
8 | g.99717218C>G | CA371867175 | VPS13B | c.6577C>G (p.Leu2193Val) n.6647C>G c.*2259C>G (n.*2259C>G) c.6502C>G (p.Leu2168Val) c.6574C>G (p.Leu2192Val) c.6499C>G (p.Leu2167Val) c.6199C>G (p.Leu2067Val) c.3463C>G (p.Leu1155Val) c.2356C>G (p.Leu786Val) c.6382C>G (p.Leu2128Val) c.2134C>G (p.Leu712Val) c.5362C>G (p.Leu1788Val) | |
8 | g.99717218C>T | CA371867176 | VPS13B | c.6577C>T (p.Leu2193Phe) n.6647C>T c.*2259C>T (n.*2259C>T) c.6502C>T (p.Leu2168Phe) c.6574C>T (p.Leu2192Phe) c.6499C>T (p.Leu2167Phe) c.6199C>T (p.Leu2067Phe) c.3463C>T (p.Leu1155Phe) c.2356C>T (p.Leu786Phe) c.6382C>T (p.Leu2128Phe) c.2134C>T (p.Leu712Phe) c.5362C>T (p.Leu1788Phe) | |
8 | g.99717219T>A | CA371867177 | VPS13B | c.6578T>A (p.Leu2193His) n.6648T>A c.*2260T>A (n.*2260T>A) c.6503T>A (p.Leu2168His) c.6575T>A (p.Leu2192His) c.6500T>A (p.Leu2167His) c.6200T>A (p.Leu2067His) c.3464T>A (p.Leu1155His) c.2357T>A (p.Leu786His) c.6383T>A (p.Leu2128His) c.2135T>A (p.Leu712His) c.5363T>A (p.Leu1788His) | |
8 | g.99717219T>C | CA371867178 | VPS13B | c.6578T>C (p.Leu2193Pro) n.6648T>C c.*2260T>C (n.*2260T>C) c.6503T>C (p.Leu2168Pro) c.6575T>C (p.Leu2192Pro) c.6500T>C (p.Leu2167Pro) c.6200T>C (p.Leu2067Pro) c.3464T>C (p.Leu1155Pro) c.2357T>C (p.Leu786Pro) c.6383T>C (p.Leu2128Pro) c.2135T>C (p.Leu712Pro) c.5363T>C (p.Leu1788Pro) | |
8 | g.99717219T>G | CA252423 | VPS13B | c.6578T>G (p.Leu2193Arg) n.6648T>G c.*2260T>G (n.*2260T>G) c.6503T>G (p.Leu2168Arg) c.6575T>G (p.Leu2192Arg) c.6500T>G (p.Leu2167Arg) c.6200T>G (p.Leu2067Arg) c.3464T>G (p.Leu1155Arg) c.2357T>G (p.Leu786Arg) c.6383T>G (p.Leu2128Arg) c.2135T>G (p.Leu712Arg) c.5363T>G (p.Leu1788Arg) | ClinVar dbSNP |
8 | g.99717220T>A | CA462440230 | VPS13B | c.6579T>A (p.Leu2193=) n.6649T>A c.*2261T>A (n.*2261T>A) c.6504T>A (p.Leu2168=) c.6576T>A (p.Leu2192=) c.6501T>A (p.Leu2167=) c.6201T>A (p.Leu2067=) c.3465T>A (p.Leu1155=) c.2358T>A (p.Leu786=) c.6384T>A (p.Leu2128=) c.2136T>A (p.Leu712=) c.5364T>A (p.Leu1788=) | |
8 | g.99717220T>C | CA462440231 | VPS13B | c.6579T>C (p.Leu2193=) n.6649T>C c.*2261T>C (n.*2261T>C) c.6504T>C (p.Leu2168=) c.6576T>C (p.Leu2192=) c.6501T>C (p.Leu2167=) c.6201T>C (p.Leu2067=) c.3465T>C (p.Leu1155=) c.2358T>C (p.Leu786=) c.6384T>C (p.Leu2128=) c.2136T>C (p.Leu712=) c.5364T>C (p.Leu1788=) | |
8 | g.99717220T>G | CA462440232 | VPS13B | c.6579T>G (p.Leu2193=) n.6649T>G c.*2261T>G (n.*2261T>G) c.6504T>G (p.Leu2168=) c.6576T>G (p.Leu2192=) c.6501T>G (p.Leu2167=) c.6201T>G (p.Leu2067=) c.3465T>G (p.Leu1155=) c.2358T>G (p.Leu786=) c.6384T>G (p.Leu2128=) c.2136T>G (p.Leu712=) c.5364T>G (p.Leu1788=) | dbSNP |
8 | g.99717221A>C | CA371867179 | VPS13B | c.6580A>C (p.Lys2194Gln) n.6650A>C c.*2262A>C (n.*2262A>C) c.6505A>C (p.Lys2169Gln) c.6577A>C (p.Lys2193Gln) c.6502A>C (p.Lys2168Gln) c.6202A>C (p.Lys2068Gln) c.3466A>C (p.Lys1156Gln) c.2359A>C (p.Lys787Gln) c.6385A>C (p.Lys2129Gln) c.2137A>C (p.Lys713Gln) c.5365A>C (p.Lys1789Gln) | |
8 | g.99717221A>G | CA371867180 | VPS13B | c.6580A>G (p.Lys2194Glu) n.6650A>G c.*2262A>G (n.*2262A>G) c.6505A>G (p.Lys2169Glu) c.6577A>G (p.Lys2193Glu) c.6502A>G (p.Lys2168Glu) c.6202A>G (p.Lys2068Glu) c.3466A>G (p.Lys1156Glu) c.2359A>G (p.Lys787Glu) c.6385A>G (p.Lys2129Glu) c.2137A>G (p.Lys713Glu) c.5365A>G (p.Lys1789Glu) | |
8 | g.99717221A>T | CA371867181 | VPS13B | c.6580A>T (p.Lys2194Ter) n.6650A>T c.*2262A>T (n.*2262A>T) c.6505A>T (p.Lys2169Ter) c.6577A>T (p.Lys2193Ter) c.6502A>T (p.Lys2168Ter) c.6202A>T (p.Lys2068Ter) c.3466A>T (p.Lys1156Ter) c.2359A>T (p.Lys787Ter) c.6385A>T (p.Lys2129Ter) c.2137A>T (p.Lys713Ter) c.5365A>T (p.Lys1789Ter) | ClinVar gnomAD v4 |
8 | g.99717224del | CA16041245 | VPS13B | c.6583del (p.Thr2195GlnfsTer10) n.6653del c.*2265del (n.*2265del) c.6508del (p.Thr2170GlnfsTer10) c.6580del (p.Thr2194GlnfsTer10) c.6505del (p.Thr2169GlnfsTer10) c.6205del (p.Thr2069GlnfsTer10) c.3469del (p.Thr1157GlnfsTer10) c.2362del (p.Thr788GlnfsTer10) c.6388del (p.Thr2130GlnfsTer10) c.2140del (p.Thr714GlnfsTer10) c.5368del (p.Thr1790GlnfsTer10) | ClinVar dbSNP |
8 | g.99717222A>C | CA371867182 | VPS13B | c.6581A>C (p.Lys2194Thr) n.6651A>C c.*2263A>C (n.*2263A>C) c.6506A>C (p.Lys2169Thr) c.6578A>C (p.Lys2193Thr) c.6503A>C (p.Lys2168Thr) c.6203A>C (p.Lys2068Thr) c.3467A>C (p.Lys1156Thr) c.2360A>C (p.Lys787Thr) c.6386A>C (p.Lys2129Thr) c.2138A>C (p.Lys713Thr) c.5366A>C (p.Lys1789Thr) | |
8 | g.99717222A>G | CA371867183 | VPS13B | c.6581A>G (p.Lys2194Arg) n.6651A>G c.*2263A>G (n.*2263A>G) c.6506A>G (p.Lys2169Arg) c.6578A>G (p.Lys2193Arg) c.6503A>G (p.Lys2168Arg) c.6203A>G (p.Lys2068Arg) c.3467A>G (p.Lys1156Arg) c.2360A>G (p.Lys787Arg) c.6386A>G (p.Lys2129Arg) c.2138A>G (p.Lys713Arg) c.5366A>G (p.Lys1789Arg) | |
8 | g.99717222A>T | CA371867184 | VPS13B | c.6581A>T (p.Lys2194Ile) n.6651A>T c.*2263A>T (n.*2263A>T) c.6506A>T (p.Lys2169Ile) c.6578A>T (p.Lys2193Ile) c.6503A>T (p.Lys2168Ile) c.6203A>T (p.Lys2068Ile) c.3467A>T (p.Lys1156Ile) c.2360A>T (p.Lys787Ile) c.6386A>T (p.Lys2129Ile) c.2138A>T (p.Lys713Ile) c.5366A>T (p.Lys1789Ile) | |
8 | g.99717223A>C | CA371867185 | VPS13B | c.6582A>C (p.Lys2194Asn) n.6652A>C c.*2264A>C (n.*2264A>C) c.6507A>C (p.Lys2169Asn) c.6579A>C (p.Lys2193Asn) c.6504A>C (p.Lys2168Asn) c.6204A>C (p.Lys2068Asn) c.3468A>C (p.Lys1156Asn) c.2361A>C (p.Lys787Asn) c.6387A>C (p.Lys2129Asn) c.2139A>C (p.Lys713Asn) c.5367A>C (p.Lys1789Asn) | ClinVar dbSNP gnomAD v4 |
8 | g.99717223A>G | CA462440233 | VPS13B | c.6582A>G (p.Lys2194=) n.6652A>G c.*2264A>G (n.*2264A>G) c.6507A>G (p.Lys2169=) c.6579A>G (p.Lys2193=) c.6504A>G (p.Lys2168=) c.6204A>G (p.Lys2068=) c.3468A>G (p.Lys1156=) c.2361A>G (p.Lys787=) c.6387A>G (p.Lys2129=) c.2139A>G (p.Lys713=) c.5367A>G (p.Lys1789=) | |
8 | g.99717223A>T | CA371867186 | VPS13B | c.6582A>T (p.Lys2194Asn) n.6652A>T c.*2264A>T (n.*2264A>T) c.6507A>T (p.Lys2169Asn) c.6579A>T (p.Lys2193Asn) c.6504A>T (p.Lys2168Asn) c.6204A>T (p.Lys2068Asn) c.3468A>T (p.Lys1156Asn) c.2361A>T (p.Lys787Asn) c.6387A>T (p.Lys2129Asn) c.2139A>T (p.Lys713Asn) c.5367A>T (p.Lys1789Asn) | |
8 | g.99717224A>C | CA371867187 | VPS13B | c.6583A>C (p.Thr2195Pro) n.6653A>C c.*2265A>C (n.*2265A>C) c.6508A>C (p.Thr2170Pro) c.6580A>C (p.Thr2194Pro) c.6505A>C (p.Thr2169Pro) c.6205A>C (p.Thr2069Pro) c.3469A>C (p.Thr1157Pro) c.2362A>C (p.Thr788Pro) c.6388A>C (p.Thr2130Pro) c.2140A>C (p.Thr714Pro) c.5368A>C (p.Thr1790Pro) | |
8 | g.99717224A>G | CA371867188 | VPS13B | c.6583A>G (p.Thr2195Ala) n.6653A>G c.*2265A>G (n.*2265A>G) c.6508A>G (p.Thr2170Ala) c.6580A>G (p.Thr2194Ala) c.6505A>G (p.Thr2169Ala) c.6205A>G (p.Thr2069Ala) c.3469A>G (p.Thr1157Ala) c.2362A>G (p.Thr788Ala) c.6388A>G (p.Thr2130Ala) c.2140A>G (p.Thr714Ala) c.5368A>G (p.Thr1790Ala) | gnomAD v4 |
8 | g.99717224A>T | CA371867189 | VPS13B | c.6583A>T (p.Thr2195Ser) n.6653A>T c.*2265A>T (n.*2265A>T) c.6508A>T (p.Thr2170Ser) c.6580A>T (p.Thr2194Ser) c.6505A>T (p.Thr2169Ser) c.6205A>T (p.Thr2069Ser) c.3469A>T (p.Thr1157Ser) c.2362A>T (p.Thr788Ser) c.6388A>T (p.Thr2130Ser) c.2140A>T (p.Thr714Ser) c.5368A>T (p.Thr1790Ser) | |
8 | g.99717225C>A | CA371867190 | VPS13B | c.6584C>A (p.Thr2195Lys) n.6654C>A c.*2266C>A (n.*2266C>A) c.6509C>A (p.Thr2170Lys) c.6581C>A (p.Thr2194Lys) c.6506C>A (p.Thr2169Lys) c.6206C>A (p.Thr2069Lys) c.3470C>A (p.Thr1157Lys) c.2363C>A (p.Thr788Lys) c.6389C>A (p.Thr2130Lys) c.2141C>A (p.Thr714Lys) c.5369C>A (p.Thr1790Lys) | |
8 | g.99717225C>G | CA371867191 | VPS13B | c.6584C>G (p.Thr2195Arg) n.6654C>G c.*2266C>G (n.*2266C>G) c.6509C>G (p.Thr2170Arg) c.6581C>G (p.Thr2194Arg) c.6506C>G (p.Thr2169Arg) c.6206C>G (p.Thr2069Arg) c.3470C>G (p.Thr1157Arg) c.2363C>G (p.Thr788Arg) c.6389C>G (p.Thr2130Arg) c.2141C>G (p.Thr714Arg) c.5369C>G (p.Thr1790Arg) | gnomAD v4 |
8 | g.99717225C>T | CA183028967 | VPS13B | c.6584C>T (p.Thr2195Ile) n.6654C>T c.*2266C>T (n.*2266C>T) c.6509C>T (p.Thr2170Ile) c.6581C>T (p.Thr2194Ile) c.6506C>T (p.Thr2169Ile) c.6206C>T (p.Thr2069Ile) c.3470C>T (p.Thr1157Ile) c.2363C>T (p.Thr788Ile) c.6389C>T (p.Thr2130Ile) c.2141C>T (p.Thr714Ile) c.5369C>T (p.Thr1790Ile) | dbSNP |
8 | g.99717226A>C | CA462440236 | VPS13B | c.6585A>C (p.Thr2195=) n.6655A>C c.*2267A>C (n.*2267A>C) c.6510A>C (p.Thr2170=) c.6582A>C (p.Thr2194=) c.6507A>C (p.Thr2169=) c.6207A>C (p.Thr2069=) c.3471A>C (p.Thr1157=) c.2364A>C (p.Thr788=) c.6390A>C (p.Thr2130=) c.2142A>C (p.Thr714=) c.5370A>C (p.Thr1790=) | |
8 | g.99717226A>G | CA462440235 | VPS13B | c.6585A>G (p.Thr2195=) n.6655A>G c.*2267A>G (n.*2267A>G) c.6510A>G (p.Thr2170=) c.6582A>G (p.Thr2194=) c.6507A>G (p.Thr2169=) c.6207A>G (p.Thr2069=) c.3471A>G (p.Thr1157=) c.2364A>G (p.Thr788=) c.6390A>G (p.Thr2130=) c.2142A>G (p.Thr714=) c.5370A>G (p.Thr1790=) | |
8 | g.99717226A>T | CA462440234 | VPS13B | c.6585A>T (p.Thr2195=) n.6655A>T c.*2267A>T (n.*2267A>T) c.6510A>T (p.Thr2170=) c.6582A>T (p.Thr2194=) c.6507A>T (p.Thr2169=) c.6207A>T (p.Thr2069=) c.3471A>T (p.Thr1157=) c.2364A>T (p.Thr788=) c.6390A>T (p.Thr2130=) c.2142A>T (p.Thr714=) c.5370A>T (p.Thr1790=) | |
8 | g.99717227A>C | CA371867192 | VPS13B | c.6586A>C (p.Ser2196Arg) n.6656A>C c.*2268A>C (n.*2268A>C) c.6511A>C (p.Ser2171Arg) c.6583A>C (p.Ser2195Arg) c.6508A>C (p.Ser2170Arg) c.6208A>C (p.Ser2070Arg) c.3472A>C (p.Ser1158Arg) c.2365A>C (p.Ser789Arg) c.6391A>C (p.Ser2131Arg) c.2143A>C (p.Ser715Arg) c.5371A>C (p.Ser1791Arg) | |
8 | g.99717227A>G | CA371867193 | VPS13B | c.6586A>G (p.Ser2196Gly) n.6656A>G c.*2268A>G (n.*2268A>G) c.6511A>G (p.Ser2171Gly) c.6583A>G (p.Ser2195Gly) c.6508A>G (p.Ser2170Gly) c.6208A>G (p.Ser2070Gly) c.3472A>G (p.Ser1158Gly) c.2365A>G (p.Ser789Gly) c.6391A>G (p.Ser2131Gly) c.2143A>G (p.Ser715Gly) c.5371A>G (p.Ser1791Gly) | ClinVar gnomAD v4 |
8 | g.99717227A>T | CA371867194 | VPS13B | c.6586A>T (p.Ser2196Cys) n.6656A>T c.*2268A>T (n.*2268A>T) c.6511A>T (p.Ser2171Cys) c.6583A>T (p.Ser2195Cys) c.6508A>T (p.Ser2170Cys) c.6208A>T (p.Ser2070Cys) c.3472A>T (p.Ser1158Cys) c.2365A>T (p.Ser789Cys) c.6391A>T (p.Ser2131Cys) c.2143A>T (p.Ser715Cys) c.5371A>T (p.Ser1791Cys) | |
8 | g.99717228G>A | CA4824017 | VPS13B | c.6587G>A (p.Ser2196Asn) n.6657G>A c.*2269G>A (n.*2269G>A) c.6512G>A (p.Ser2171Asn) c.6584G>A (p.Ser2195Asn) c.6509G>A (p.Ser2170Asn) c.6209G>A (p.Ser2070Asn) c.3473G>A (p.Ser1158Asn) c.2366G>A (p.Ser789Asn) c.6392G>A (p.Ser2131Asn) c.2144G>A (p.Ser715Asn) c.5372G>A (p.Ser1791Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99717228G>C | CA371867196 | VPS13B | c.6587G>C (p.Ser2196Thr) n.6657G>C c.*2269G>C (n.*2269G>C) c.6512G>C (p.Ser2171Thr) c.6584G>C (p.Ser2195Thr) c.6509G>C (p.Ser2170Thr) c.6209G>C (p.Ser2070Thr) c.3473G>C (p.Ser1158Thr) c.2366G>C (p.Ser789Thr) c.6392G>C (p.Ser2131Thr) c.2144G>C (p.Ser715Thr) c.5372G>C (p.Ser1791Thr) | |
8 | g.99717228G>T | CA371867195 | VPS13B | c.6587G>T (p.Ser2196Ile) n.6657G>T c.*2269G>T (n.*2269G>T) c.6512G>T (p.Ser2171Ile) c.6584G>T (p.Ser2195Ile) c.6509G>T (p.Ser2170Ile) c.6209G>T (p.Ser2070Ile) c.3473G>T (p.Ser1158Ile) c.2366G>T (p.Ser789Ile) c.6392G>T (p.Ser2131Ile) c.2144G>T (p.Ser715Ile) c.5372G>T (p.Ser1791Ile) | |
8 | g.99717229T>A | CA371867197 | VPS13B | c.6588T>A (p.Ser2196Arg) n.6658T>A c.*2270T>A (n.*2270T>A) c.6513T>A (p.Ser2171Arg) c.6585T>A (p.Ser2195Arg) c.6510T>A (p.Ser2170Arg) c.6210T>A (p.Ser2070Arg) c.3474T>A (p.Ser1158Arg) c.2367T>A (p.Ser789Arg) c.6393T>A (p.Ser2131Arg) c.2145T>A (p.Ser715Arg) c.5373T>A (p.Ser1791Arg) | ClinVar gnomAD v4 |
8 | g.99717229T>C | CA462440237 | VPS13B | c.6588T>C (p.Ser2196=) n.6658T>C c.*2270T>C (n.*2270T>C) c.6513T>C (p.Ser2171=) c.6585T>C (p.Ser2195=) c.6510T>C (p.Ser2170=) c.6210T>C (p.Ser2070=) c.3474T>C (p.Ser1158=) c.2367T>C (p.Ser789=) c.6393T>C (p.Ser2131=) c.2145T>C (p.Ser715=) c.5373T>C (p.Ser1791=) | ClinVar dbSNP |
8 | g.99717229T>G | CA371867198 | VPS13B | c.6588T>G (p.Ser2196Arg) n.6658T>G c.*2270T>G (n.*2270T>G) c.6513T>G (p.Ser2171Arg) c.6585T>G (p.Ser2195Arg) c.6510T>G (p.Ser2170Arg) c.6210T>G (p.Ser2070Arg) c.3474T>G (p.Ser1158Arg) c.2367T>G (p.Ser789Arg) c.6393T>G (p.Ser2131Arg) c.2145T>G (p.Ser715Arg) c.5373T>G (p.Ser1791Arg) | |
8 | g.99717230C>A | CA371867199 | VPS13B | c.6589C>A (p.Leu2197Ile) n.6659C>A c.*2271C>A (n.*2271C>A) c.6514C>A (p.Leu2172Ile) c.6586C>A (p.Leu2196Ile) c.6511C>A (p.Leu2171Ile) c.6211C>A (p.Leu2071Ile) c.3475C>A (p.Leu1159Ile) c.2368C>A (p.Leu790Ile) c.6394C>A (p.Leu2132Ile) c.2146C>A (p.Leu716Ile) c.5374C>A (p.Leu1792Ile) | |
8 | g.99717230C>G | CA371867200 | VPS13B | c.6589C>G (p.Leu2197Val) n.6659C>G c.*2271C>G (n.*2271C>G) c.6514C>G (p.Leu2172Val) c.6586C>G (p.Leu2196Val) c.6511C>G (p.Leu2171Val) c.6211C>G (p.Leu2071Val) c.3475C>G (p.Leu1159Val) c.2368C>G (p.Leu790Val) c.6394C>G (p.Leu2132Val) c.2146C>G (p.Leu716Val) c.5374C>G (p.Leu1792Val) | |
8 | g.99717230C>T | CA371867201 | VPS13B | c.6589C>T (p.Leu2197Phe) n.6659C>T c.*2271C>T (n.*2271C>T) c.6514C>T (p.Leu2172Phe) c.6586C>T (p.Leu2196Phe) c.6511C>T (p.Leu2171Phe) c.6211C>T (p.Leu2071Phe) c.3475C>T (p.Leu1159Phe) c.2368C>T (p.Leu790Phe) c.6394C>T (p.Leu2132Phe) c.2146C>T (p.Leu716Phe) c.5374C>T (p.Leu1792Phe) | |
8 | g.99717231T>A | CA371867202 | VPS13B | c.6590T>A (p.Leu2197His) n.6660T>A c.*2272T>A (n.*2272T>A) c.6515T>A (p.Leu2172His) c.6587T>A (p.Leu2196His) c.6512T>A (p.Leu2171His) c.6212T>A (p.Leu2071His) c.3476T>A (p.Leu1159His) c.2369T>A (p.Leu790His) c.6395T>A (p.Leu2132His) c.2147T>A (p.Leu716His) c.5375T>A (p.Leu1792His) | |
8 | g.99717231T>C | CA371867203 | VPS13B | c.6590T>C (p.Leu2197Pro) n.6660T>C c.*2272T>C (n.*2272T>C) c.6515T>C (p.Leu2172Pro) c.6587T>C (p.Leu2196Pro) c.6512T>C (p.Leu2171Pro) c.6212T>C (p.Leu2071Pro) c.3476T>C (p.Leu1159Pro) c.2369T>C (p.Leu790Pro) c.6395T>C (p.Leu2132Pro) c.2147T>C (p.Leu716Pro) c.5375T>C (p.Leu1792Pro) | |
8 | g.99717231T>G | CA371867204 | VPS13B | c.6590T>G (p.Leu2197Arg) n.6660T>G c.*2272T>G (n.*2272T>G) c.6515T>G (p.Leu2172Arg) c.6587T>G (p.Leu2196Arg) c.6512T>G (p.Leu2171Arg) c.6212T>G (p.Leu2071Arg) c.3476T>G (p.Leu1159Arg) c.2369T>G (p.Leu790Arg) c.6395T>G (p.Leu2132Arg) c.2147T>G (p.Leu716Arg) c.5375T>G (p.Leu1792Arg) | gnomAD v4 |
8 | g.99717232C>A | CA462440238 | VPS13B | c.6591C>A (p.Leu2197=) n.6661C>A c.*2273C>A (n.*2273C>A) c.6516C>A (p.Leu2172=) c.6588C>A (p.Leu2196=) c.6513C>A (p.Leu2171=) c.6213C>A (p.Leu2071=) c.3477C>A (p.Leu1159=) c.2370C>A (p.Leu790=) c.6396C>A (p.Leu2132=) c.2148C>A (p.Leu716=) c.5376C>A (p.Leu1792=) | |
8 | g.99717232C>G | CA462440240 | VPS13B | c.6591C>G (p.Leu2197=) n.6661C>G c.*2273C>G (n.*2273C>G) c.6516C>G (p.Leu2172=) c.6588C>G (p.Leu2196=) c.6513C>G (p.Leu2171=) c.6213C>G (p.Leu2071=) c.3477C>G (p.Leu1159=) c.2370C>G (p.Leu790=) c.6396C>G (p.Leu2132=) c.2148C>G (p.Leu716=) c.5376C>G (p.Leu1792=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717232C>T | CA462440239 | VPS13B | c.6591C>T (p.Leu2197=) n.6661C>T c.*2273C>T (n.*2273C>T) c.6516C>T (p.Leu2172=) c.6588C>T (p.Leu2196=) c.6513C>T (p.Leu2171=) c.6213C>T (p.Leu2071=) c.3477C>T (p.Leu1159=) c.2370C>T (p.Leu790=) c.6396C>T (p.Leu2132=) c.2148C>T (p.Leu716=) c.5376C>T (p.Leu1792=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717233A>C | CA371867205 | VPS13B | c.6592A>C (p.Lys2198Gln) n.6662A>C c.*2274A>C (n.*2274A>C) c.6517A>C (p.Lys2173Gln) c.6589A>C (p.Lys2197Gln) c.6514A>C (p.Lys2172Gln) c.6214A>C (p.Lys2072Gln) c.3478A>C (p.Lys1160Gln) c.2371A>C (p.Lys791Gln) c.6397A>C (p.Lys2133Gln) c.2149A>C (p.Lys717Gln) c.5377A>C (p.Lys1793Gln) | |
8 | g.99717233A>G | CA371867206 | VPS13B | c.6592A>G (p.Lys2198Glu) n.6662A>G c.*2274A>G (n.*2274A>G) c.6517A>G (p.Lys2173Glu) c.6589A>G (p.Lys2197Glu) c.6514A>G (p.Lys2172Glu) c.6214A>G (p.Lys2072Glu) c.3478A>G (p.Lys1160Glu) c.2371A>G (p.Lys791Glu) c.6397A>G (p.Lys2133Glu) c.2149A>G (p.Lys717Glu) c.5377A>G (p.Lys1793Glu) | |
8 | g.99717233A>T | CA371867207 | VPS13B | c.6592A>T (p.Lys2198Ter) n.6662A>T c.*2274A>T (n.*2274A>T) c.6517A>T (p.Lys2173Ter) c.6589A>T (p.Lys2197Ter) c.6514A>T (p.Lys2172Ter) c.6214A>T (p.Lys2072Ter) c.3478A>T (p.Lys1160Ter) c.2371A>T (p.Lys791Ter) c.6397A>T (p.Lys2133Ter) c.2149A>T (p.Lys717Ter) c.5377A>T (p.Lys1793Ter) | |
8 | g.99717239_99717242del | CA2697550038 | VPS13B | c.6598_6601del (p.Arg2200AlafsTer4) n.6668_6671del c.*2280_*2283del (n.*2280_*2283del) c.6523_6526del (p.Arg2175AlafsTer4) c.6595_6598del (p.Arg2199AlafsTer4) c.6520_6523del (p.Arg2174AlafsTer4) c.6220_6223del (p.Arg2074AlafsTer4) c.3484_3487del (p.Arg1162AlafsTer4) c.2377_2380del (p.Arg793AlafsTer4) c.6403_6406del (p.Arg2135AlafsTer4) c.2155_2158del (p.Arg719AlafsTer4) c.5383_5386del (p.Arg1795AlafsTer4) | ClinVar |
8 | g.99717234A>C | CA371867208 | VPS13B | c.6593A>C (p.Lys2198Thr) n.6663A>C c.*2275A>C (n.*2275A>C) c.6518A>C (p.Lys2173Thr) c.6590A>C (p.Lys2197Thr) c.6515A>C (p.Lys2172Thr) c.6215A>C (p.Lys2072Thr) c.3479A>C (p.Lys1160Thr) c.2372A>C (p.Lys791Thr) c.6398A>C (p.Lys2133Thr) c.2150A>C (p.Lys717Thr) c.5378A>C (p.Lys1793Thr) | dbSNP |
8 | g.99717234A>G | CA371867209 | VPS13B | c.6593A>G (p.Lys2198Arg) n.6663A>G c.*2275A>G (n.*2275A>G) c.6518A>G (p.Lys2173Arg) c.6590A>G (p.Lys2197Arg) c.6515A>G (p.Lys2172Arg) c.6215A>G (p.Lys2072Arg) c.3479A>G (p.Lys1160Arg) c.2372A>G (p.Lys791Arg) c.6398A>G (p.Lys2133Arg) c.2150A>G (p.Lys717Arg) c.5378A>G (p.Lys1793Arg) | dbSNP gnomAD v4 |
8 | g.99717234A>T | CA371867210 | VPS13B | c.6593A>T (p.Lys2198Ile) n.6663A>T c.*2275A>T (n.*2275A>T) c.6518A>T (p.Lys2173Ile) c.6590A>T (p.Lys2197Ile) c.6515A>T (p.Lys2172Ile) c.6215A>T (p.Lys2072Ile) c.3479A>T (p.Lys1160Ile) c.2372A>T (p.Lys791Ile) c.6398A>T (p.Lys2133Ile) c.2150A>T (p.Lys717Ile) c.5378A>T (p.Lys1793Ile) | |
8 | g.99717235A>C | CA371867211 | VPS13B | c.6594A>C (p.Lys2198Asn) n.6664A>C c.*2276A>C (n.*2276A>C) c.6519A>C (p.Lys2173Asn) c.6591A>C (p.Lys2197Asn) c.6516A>C (p.Lys2172Asn) c.6216A>C (p.Lys2072Asn) c.3480A>C (p.Lys1160Asn) c.2373A>C (p.Lys791Asn) c.6399A>C (p.Lys2133Asn) c.2151A>C (p.Lys717Asn) c.5379A>C (p.Lys1793Asn) | |
8 | g.99717235A>G | CA462440241 | VPS13B | c.6594A>G (p.Lys2198=) n.6664A>G c.*2276A>G (n.*2276A>G) c.6519A>G (p.Lys2173=) c.6591A>G (p.Lys2197=) c.6516A>G (p.Lys2172=) c.6216A>G (p.Lys2072=) c.3480A>G (p.Lys1160=) c.2373A>G (p.Lys791=) c.6399A>G (p.Lys2133=) c.2151A>G (p.Lys717=) c.5379A>G (p.Lys1793=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717235A>T | CA371867212 | VPS13B | c.6594A>T (p.Lys2198Asn) n.6664A>T c.*2276A>T (n.*2276A>T) c.6519A>T (p.Lys2173Asn) c.6591A>T (p.Lys2197Asn) c.6516A>T (p.Lys2172Asn) c.6216A>T (p.Lys2072Asn) c.3480A>T (p.Lys1160Asn) c.2373A>T (p.Lys791Asn) c.6399A>T (p.Lys2133Asn) c.2151A>T (p.Lys717Asn) c.5379A>T (p.Lys1793Asn) | |
8 | g.99717236G>A | CA371867213 | VPS13B | c.6595G>A (p.Glu2199Lys) n.6665G>A c.*2277G>A (n.*2277G>A) c.6520G>A (p.Glu2174Lys) c.6592G>A (p.Glu2198Lys) c.6517G>A (p.Glu2173Lys) c.6217G>A (p.Glu2073Lys) c.3481G>A (p.Glu1161Lys) c.2374G>A (p.Glu792Lys) c.6400G>A (p.Glu2134Lys) c.2152G>A (p.Glu718Lys) c.5380G>A (p.Glu1794Lys) | gnomAD v4 |
8 | g.99717236G>C | CA371867214 | VPS13B | c.6595G>C (p.Glu2199Gln) n.6665G>C c.*2277G>C (n.*2277G>C) c.6520G>C (p.Glu2174Gln) c.6592G>C (p.Glu2198Gln) c.6517G>C (p.Glu2173Gln) c.6217G>C (p.Glu2073Gln) c.3481G>C (p.Glu1161Gln) c.2374G>C (p.Glu792Gln) c.6400G>C (p.Glu2134Gln) c.2152G>C (p.Glu718Gln) c.5380G>C (p.Glu1794Gln) | |
8 | g.99717236G>T | CA371867215 | VPS13B | c.6595G>T (p.Glu2199Ter) n.6665G>T c.*2277G>T (n.*2277G>T) c.6520G>T (p.Glu2174Ter) c.6592G>T (p.Glu2198Ter) c.6517G>T (p.Glu2173Ter) c.6217G>T (p.Glu2073Ter) c.3481G>T (p.Glu1161Ter) c.2374G>T (p.Glu792Ter) c.6400G>T (p.Glu2134Ter) c.2152G>T (p.Glu718Ter) c.5380G>T (p.Glu1794Ter) | |
8 | g.99717237A>C | CA371867216 | VPS13B | c.6596A>C (p.Glu2199Ala) n.6666A>C c.*2278A>C (n.*2278A>C) c.6521A>C (p.Glu2174Ala) c.6593A>C (p.Glu2198Ala) c.6518A>C (p.Glu2173Ala) c.6218A>C (p.Glu2073Ala) c.3482A>C (p.Glu1161Ala) c.2375A>C (p.Glu792Ala) c.6401A>C (p.Glu2134Ala) c.2153A>C (p.Glu718Ala) c.5381A>C (p.Glu1794Ala) | |
8 | g.99717237A>G | CA371867217 | VPS13B | c.6596A>G (p.Glu2199Gly) n.6666A>G c.*2278A>G (n.*2278A>G) c.6521A>G (p.Glu2174Gly) c.6593A>G (p.Glu2198Gly) c.6518A>G (p.Glu2173Gly) c.6218A>G (p.Glu2073Gly) c.3482A>G (p.Glu1161Gly) c.2375A>G (p.Glu792Gly) c.6401A>G (p.Glu2134Gly) c.2153A>G (p.Glu718Gly) c.5381A>G (p.Glu1794Gly) | |
8 | g.99717237A>T | CA371867218 | VPS13B | c.6596A>T (p.Glu2199Val) n.6666A>T c.*2278A>T (n.*2278A>T) c.6521A>T (p.Glu2174Val) c.6593A>T (p.Glu2198Val) c.6518A>T (p.Glu2173Val) c.6218A>T (p.Glu2073Val) c.3482A>T (p.Glu1161Val) c.2375A>T (p.Glu792Val) c.6401A>T (p.Glu2134Val) c.2153A>T (p.Glu718Val) c.5381A>T (p.Glu1794Val) | |
8 | g.99717238A>C | CA371867219 | VPS13B | c.6597A>C (p.Glu2199Asp) n.6667A>C c.*2279A>C (n.*2279A>C) c.6522A>C (p.Glu2174Asp) c.6594A>C (p.Glu2198Asp) c.6519A>C (p.Glu2173Asp) c.6219A>C (p.Glu2073Asp) c.3483A>C (p.Glu1161Asp) c.2376A>C (p.Glu792Asp) c.6402A>C (p.Glu2134Asp) c.2154A>C (p.Glu718Asp) c.5382A>C (p.Glu1794Asp) | |
8 | g.99717238A>G | CA462440242 | VPS13B | c.6597A>G (p.Glu2199=) n.6667A>G c.*2279A>G (n.*2279A>G) c.6522A>G (p.Glu2174=) c.6594A>G (p.Glu2198=) c.6519A>G (p.Glu2173=) c.6219A>G (p.Glu2073=) c.3483A>G (p.Glu1161=) c.2376A>G (p.Glu792=) c.6402A>G (p.Glu2134=) c.2154A>G (p.Glu718=) c.5382A>G (p.Glu1794=) | |
8 | g.99717238A>T | CA371867220 | VPS13B | c.6597A>T (p.Glu2199Asp) n.6667A>T c.*2279A>T (n.*2279A>T) c.6522A>T (p.Glu2174Asp) c.6594A>T (p.Glu2198Asp) c.6519A>T (p.Glu2173Asp) c.6219A>T (p.Glu2073Asp) c.3483A>T (p.Glu1161Asp) c.2376A>T (p.Glu792Asp) c.6402A>T (p.Glu2134Asp) c.2154A>T (p.Glu718Asp) c.5382A>T (p.Glu1794Asp) | |
8 | g.99717239A>C | CA462440243 | VPS13B | c.6598A>C (p.Arg2200=) n.6668A>C c.*2280A>C (n.*2280A>C) c.6523A>C (p.Arg2175=) c.6595A>C (p.Arg2199=) c.6520A>C (p.Arg2174=) c.6220A>C (p.Arg2074=) c.3484A>C (p.Arg1162=) c.2377A>C (p.Arg793=) c.6403A>C (p.Arg2135=) c.2155A>C (p.Arg719=) c.5383A>C (p.Arg1795=) | |
8 | g.99717239A>G | CA371867221 | VPS13B | c.6598A>G (p.Arg2200Gly) n.6668A>G c.*2280A>G (n.*2280A>G) c.6523A>G (p.Arg2175Gly) c.6595A>G (p.Arg2199Gly) c.6520A>G (p.Arg2174Gly) c.6220A>G (p.Arg2074Gly) c.3484A>G (p.Arg1162Gly) c.2377A>G (p.Arg793Gly) c.6403A>G (p.Arg2135Gly) c.2155A>G (p.Arg719Gly) c.5383A>G (p.Arg1795Gly) | |
8 | g.99717239A>T | CA371867222 | VPS13B | c.6598A>T (p.Arg2200Ter) n.6668A>T c.*2280A>T (n.*2280A>T) c.6523A>T (p.Arg2175Ter) c.6595A>T (p.Arg2199Ter) c.6520A>T (p.Arg2174Ter) c.6220A>T (p.Arg2074Ter) c.3484A>T (p.Arg1162Ter) c.2377A>T (p.Arg793Ter) c.6403A>T (p.Arg2135Ter) c.2155A>T (p.Arg719Ter) c.5383A>T (p.Arg1795Ter) | |
8 | g.99717240G>A | CA4824018 | VPS13B | c.6599G>A (p.Arg2200Lys) n.6669G>A c.*2281G>A (n.*2281G>A) c.6524G>A (p.Arg2175Lys) c.6596G>A (p.Arg2199Lys) c.6521G>A (p.Arg2174Lys) c.6221G>A (p.Arg2074Lys) c.3485G>A (p.Arg1162Lys) c.2378G>A (p.Arg793Lys) c.6404G>A (p.Arg2135Lys) c.2156G>A (p.Arg719Lys) c.5384G>A (p.Arg1795Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717240G>C | CA371867223 | VPS13B | c.6599G>C (p.Arg2200Thr) n.6669G>C c.*2281G>C (n.*2281G>C) c.6524G>C (p.Arg2175Thr) c.6596G>C (p.Arg2199Thr) c.6521G>C (p.Arg2174Thr) c.6221G>C (p.Arg2074Thr) c.3485G>C (p.Arg1162Thr) c.2378G>C (p.Arg793Thr) c.6404G>C (p.Arg2135Thr) c.2156G>C (p.Arg719Thr) c.5384G>C (p.Arg1795Thr) | |
8 | g.99717240G>T | CA371867224 | VPS13B | c.6599G>T (p.Arg2200Ile) n.6669G>T c.*2281G>T (n.*2281G>T) c.6524G>T (p.Arg2175Ile) c.6596G>T (p.Arg2199Ile) c.6521G>T (p.Arg2174Ile) c.6221G>T (p.Arg2074Ile) c.3485G>T (p.Arg1162Ile) c.2378G>T (p.Arg793Ile) c.6404G>T (p.Arg2135Ile) c.2156G>T (p.Arg719Ile) c.5384G>T (p.Arg1795Ile) | ClinVar dbSNP gnomAD v4 |
8 | g.99717241A>C | CA371867225 | VPS13B | c.6600A>C (p.Arg2200Ser) n.6670A>C c.*2282A>C (n.*2282A>C) c.6525A>C (p.Arg2175Ser) c.6597A>C (p.Arg2199Ser) c.6522A>C (p.Arg2174Ser) c.6222A>C (p.Arg2074Ser) c.3486A>C (p.Arg1162Ser) c.2379A>C (p.Arg793Ser) c.6405A>C (p.Arg2135Ser) c.2157A>C (p.Arg719Ser) c.5385A>C (p.Arg1795Ser) | |
8 | g.99717241A>G | CA462440244 | VPS13B | c.6600A>G (p.Arg2200=) n.6670A>G c.*2282A>G (n.*2282A>G) c.6525A>G (p.Arg2175=) c.6597A>G (p.Arg2199=) c.6522A>G (p.Arg2174=) c.6222A>G (p.Arg2074=) c.3486A>G (p.Arg1162=) c.2379A>G (p.Arg793=) c.6405A>G (p.Arg2135=) c.2157A>G (p.Arg719=) c.5385A>G (p.Arg1795=) | |
8 | g.99717241A>T | CA371867226 | VPS13B | c.6600A>T (p.Arg2200Ser) n.6670A>T c.*2282A>T (n.*2282A>T) c.6525A>T (p.Arg2175Ser) c.6597A>T (p.Arg2199Ser) c.6522A>T (p.Arg2174Ser) c.6222A>T (p.Arg2074Ser) c.3486A>T (p.Arg1162Ser) c.2379A>T (p.Arg793Ser) c.6405A>T (p.Arg2135Ser) c.2157A>T (p.Arg719Ser) c.5385A>T (p.Arg1795Ser) | |
8 | g.99717242A>C | CA371867227 | VPS13B | c.6601A>C (p.Ser2201Arg) n.6671A>C c.*2283A>C (n.*2283A>C) c.6526A>C (p.Ser2176Arg) c.6598A>C (p.Ser2200Arg) c.6523A>C (p.Ser2175Arg) c.6223A>C (p.Ser2075Arg) c.3487A>C (p.Ser1163Arg) c.2380A>C (p.Ser794Arg) c.6406A>C (p.Ser2136Arg) c.2158A>C (p.Ser720Arg) c.5386A>C (p.Ser1796Arg) | |
8 | g.99717242A>G | CA371867229 | VPS13B | c.6601A>G (p.Ser2201Gly) n.6671A>G c.*2283A>G (n.*2283A>G) c.6526A>G (p.Ser2176Gly) c.6598A>G (p.Ser2200Gly) c.6523A>G (p.Ser2175Gly) c.6223A>G (p.Ser2075Gly) c.3487A>G (p.Ser1163Gly) c.2380A>G (p.Ser794Gly) c.6406A>G (p.Ser2136Gly) c.2158A>G (p.Ser720Gly) c.5386A>G (p.Ser1796Gly) | |
8 | g.99717242A>T | CA371867228 | VPS13B | c.6601A>T (p.Ser2201Cys) n.6671A>T c.*2283A>T (n.*2283A>T) c.6526A>T (p.Ser2176Cys) c.6598A>T (p.Ser2200Cys) c.6523A>T (p.Ser2175Cys) c.6223A>T (p.Ser2075Cys) c.3487A>T (p.Ser1163Cys) c.2380A>T (p.Ser794Cys) c.6406A>T (p.Ser2136Cys) c.2158A>T (p.Ser720Cys) c.5386A>T (p.Ser1796Cys) | |
8 | g.99717243G>A | CA4824019 | VPS13B | c.6602G>A (p.Ser2201Asn) n.6672G>A c.*2284G>A (n.*2284G>A) c.6527G>A (p.Ser2176Asn) c.6599G>A (p.Ser2200Asn) c.6524G>A (p.Ser2175Asn) c.6224G>A (p.Ser2075Asn) c.3488G>A (p.Ser1163Asn) c.2381G>A (p.Ser794Asn) c.6407G>A (p.Ser2136Asn) c.2159G>A (p.Ser720Asn) c.5387G>A (p.Ser1796Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717243G>C | CA371867230 | VPS13B | c.6602G>C (p.Ser2201Thr) n.6672G>C c.*2284G>C (n.*2284G>C) c.6527G>C (p.Ser2176Thr) c.6599G>C (p.Ser2200Thr) c.6524G>C (p.Ser2175Thr) c.6224G>C (p.Ser2075Thr) c.3488G>C (p.Ser1163Thr) c.2381G>C (p.Ser794Thr) c.6407G>C (p.Ser2136Thr) c.2159G>C (p.Ser720Thr) c.5387G>C (p.Ser1796Thr) | |
8 | g.99717243G>T | CA371867231 | VPS13B | c.6602G>T (p.Ser2201Ile) n.6672G>T c.*2284G>T (n.*2284G>T) c.6527G>T (p.Ser2176Ile) c.6599G>T (p.Ser2200Ile) c.6524G>T (p.Ser2175Ile) c.6224G>T (p.Ser2075Ile) c.3488G>T (p.Ser1163Ile) c.2381G>T (p.Ser794Ile) c.6407G>T (p.Ser2136Ile) c.2159G>T (p.Ser720Ile) c.5387G>T (p.Ser1796Ile) | |
8 | g.99717244C>A | CA371867232 | VPS13B | c.6603C>A (p.Ser2201Arg) n.6673C>A c.*2285C>A (n.*2285C>A) c.6528C>A (p.Ser2176Arg) c.6600C>A (p.Ser2200Arg) c.6525C>A (p.Ser2175Arg) c.6225C>A (p.Ser2075Arg) c.3489C>A (p.Ser1163Arg) c.2382C>A (p.Ser794Arg) c.6408C>A (p.Ser2136Arg) c.2160C>A (p.Ser720Arg) c.5388C>A (p.Ser1796Arg) | |
8 | g.99717244C>G | CA371867233 | VPS13B | c.6603C>G (p.Ser2201Arg) n.6673C>G c.*2285C>G (n.*2285C>G) c.6528C>G (p.Ser2176Arg) c.6600C>G (p.Ser2200Arg) c.6525C>G (p.Ser2175Arg) c.6225C>G (p.Ser2075Arg) c.3489C>G (p.Ser1163Arg) c.2382C>G (p.Ser794Arg) c.6408C>G (p.Ser2136Arg) c.2160C>G (p.Ser720Arg) c.5388C>G (p.Ser1796Arg) | |
8 | g.99717244C>T | CA4824020 | VPS13B | c.6603C>T (p.Ser2201=) n.6673C>T c.*2285C>T (n.*2285C>T) c.6528C>T (p.Ser2176=) c.6600C>T (p.Ser2200=) c.6525C>T (p.Ser2175=) c.6225C>T (p.Ser2075=) c.3489C>T (p.Ser1163=) c.2382C>T (p.Ser794=) c.6408C>T (p.Ser2136=) c.2160C>T (p.Ser720=) c.5388C>T (p.Ser1796=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717245C>A | CA371867234 | VPS13B | c.6604C>A (p.Arg2202Ser) n.6674C>A c.*2286C>A (n.*2286C>A) c.6529C>A (p.Arg2177Ser) c.6601C>A (p.Arg2201Ser) c.6526C>A (p.Arg2176Ser) c.6226C>A (p.Arg2076Ser) c.3490C>A (p.Arg1164Ser) c.2383C>A (p.Arg795Ser) c.6409C>A (p.Arg2137Ser) c.2161C>A (p.Arg721Ser) c.5389C>A (p.Arg1797Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99717245C>G | CA371867235 | VPS13B | c.6604C>G (p.Arg2202Gly) n.6674C>G c.*2286C>G (n.*2286C>G) c.6529C>G (p.Arg2177Gly) c.6601C>G (p.Arg2201Gly) c.6526C>G (p.Arg2176Gly) c.6226C>G (p.Arg2076Gly) c.3490C>G (p.Arg1164Gly) c.2383C>G (p.Arg795Gly) c.6409C>G (p.Arg2137Gly) c.2161C>G (p.Arg721Gly) c.5389C>G (p.Arg1797Gly) | |
8 | g.99717245C>T | CA4824021 | VPS13B | c.6604C>T (p.Arg2202Cys) n.6674C>T c.*2286C>T (n.*2286C>T) c.6529C>T (p.Arg2177Cys) c.6601C>T (p.Arg2201Cys) c.6526C>T (p.Arg2176Cys) c.6226C>T (p.Arg2076Cys) c.3490C>T (p.Arg1164Cys) c.2383C>T (p.Arg795Cys) c.6409C>T (p.Arg2137Cys) c.2161C>T (p.Arg721Cys) c.5389C>T (p.Arg1797Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.99717246G>A | CA4824022 | VPS13B | c.6605G>A (p.Arg2202His) n.6675G>A c.*2287G>A (n.*2287G>A) c.6530G>A (p.Arg2177His) c.6602G>A (p.Arg2201His) c.6527G>A (p.Arg2176His) c.6227G>A (p.Arg2076His) c.3491G>A (p.Arg1164His) c.2384G>A (p.Arg795His) c.6410G>A (p.Arg2137His) c.2162G>A (p.Arg721His) c.5390G>A (p.Arg1797His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717246G>C | CA371867236 | VPS13B | c.6605G>C (p.Arg2202Pro) n.6675G>C c.*2287G>C (n.*2287G>C) c.6530G>C (p.Arg2177Pro) c.6602G>C (p.Arg2201Pro) c.6527G>C (p.Arg2176Pro) c.6227G>C (p.Arg2076Pro) c.3491G>C (p.Arg1164Pro) c.2384G>C (p.Arg795Pro) c.6410G>C (p.Arg2137Pro) c.2162G>C (p.Arg721Pro) c.5390G>C (p.Arg1797Pro) | |
8 | g.99717246G>T | CA371867237 | VPS13B | c.6605G>T (p.Arg2202Leu) n.6675G>T c.*2287G>T (n.*2287G>T) c.6530G>T (p.Arg2177Leu) c.6602G>T (p.Arg2201Leu) c.6527G>T (p.Arg2176Leu) c.6227G>T (p.Arg2076Leu) c.3491G>T (p.Arg1164Leu) c.2384G>T (p.Arg795Leu) c.6410G>T (p.Arg2137Leu) c.2162G>T (p.Arg721Leu) c.5390G>T (p.Arg1797Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717247C>A | CA462440246 | VPS13B | c.6606C>A (p.Arg2202=) n.6676C>A c.*2288C>A (n.*2288C>A) c.6531C>A (p.Arg2177=) c.6603C>A (p.Arg2201=) c.6528C>A (p.Arg2176=) c.6228C>A (p.Arg2076=) c.3492C>A (p.Arg1164=) c.2385C>A (p.Arg795=) c.6411C>A (p.Arg2137=) c.2163C>A (p.Arg721=) c.5391C>A (p.Arg1797=) | |
8 | g.99717247C>G | CA462440245 | VPS13B | c.6606C>G (p.Arg2202=) n.6676C>G c.*2288C>G (n.*2288C>G) c.6531C>G (p.Arg2177=) c.6603C>G (p.Arg2201=) c.6528C>G (p.Arg2176=) c.6228C>G (p.Arg2076=) c.3492C>G (p.Arg1164=) c.2385C>G (p.Arg795=) c.6411C>G (p.Arg2137=) c.2163C>G (p.Arg721=) c.5391C>G (p.Arg1797=) | |
8 | g.99717247C>T | CA4824023 | VPS13B | c.6606C>T (p.Arg2202=) n.6676C>T c.*2288C>T (n.*2288C>T) c.6531C>T (p.Arg2177=) c.6603C>T (p.Arg2201=) c.6528C>T (p.Arg2176=) c.6228C>T (p.Arg2076=) c.3492C>T (p.Arg1164=) c.2385C>T (p.Arg795=) c.6411C>T (p.Arg2137=) c.2163C>T (p.Arg721=) c.5391C>T (p.Arg1797=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717248A>C | CA371867238 | VPS13B | c.6607A>C (p.Ile2203Leu) n.6677A>C c.*2289A>C (n.*2289A>C) c.6532A>C (p.Ile2178Leu) c.6604A>C (p.Ile2202Leu) c.6529A>C (p.Ile2177Leu) c.6229A>C (p.Ile2077Leu) c.3493A>C (p.Ile1165Leu) c.2386A>C (p.Ile796Leu) c.6412A>C (p.Ile2138Leu) c.2164A>C (p.Ile722Leu) c.5392A>C (p.Ile1798Leu) | gnomAD v4 |
8 | g.99717248A>G | CA371867239 | VPS13B | c.6607A>G (p.Ile2203Val) n.6677A>G c.*2289A>G (n.*2289A>G) c.6532A>G (p.Ile2178Val) c.6604A>G (p.Ile2202Val) c.6529A>G (p.Ile2177Val) c.6229A>G (p.Ile2077Val) c.3493A>G (p.Ile1165Val) c.2386A>G (p.Ile796Val) c.6412A>G (p.Ile2138Val) c.2164A>G (p.Ile722Val) c.5392A>G (p.Ile1798Val) | dbSNP |
8 | g.99717248A>T | CA371867240 | VPS13B | c.6607A>T (p.Ile2203Phe) n.6677A>T c.*2289A>T (n.*2289A>T) c.6532A>T (p.Ile2178Phe) c.6604A>T (p.Ile2202Phe) c.6529A>T (p.Ile2177Phe) c.6229A>T (p.Ile2077Phe) c.3493A>T (p.Ile1165Phe) c.2386A>T (p.Ile796Phe) c.6412A>T (p.Ile2138Phe) c.2164A>T (p.Ile722Phe) c.5392A>T (p.Ile1798Phe) | dbSNP |
8 | g.99717249T>A | CA371867241 | VPS13B | c.6608T>A (p.Ile2203Asn) n.6678T>A c.*2290T>A (n.*2290T>A) c.6533T>A (p.Ile2178Asn) c.6605T>A (p.Ile2202Asn) c.6530T>A (p.Ile2177Asn) c.6230T>A (p.Ile2077Asn) c.3494T>A (p.Ile1165Asn) c.2387T>A (p.Ile796Asn) c.6413T>A (p.Ile2138Asn) c.2165T>A (p.Ile722Asn) c.5393T>A (p.Ile1798Asn) | |
8 | g.99717249T>C | CA371867242 | VPS13B | c.6608T>C (p.Ile2203Thr) n.6678T>C c.*2290T>C (n.*2290T>C) c.6533T>C (p.Ile2178Thr) c.6605T>C (p.Ile2202Thr) c.6530T>C (p.Ile2177Thr) c.6230T>C (p.Ile2077Thr) c.3494T>C (p.Ile1165Thr) c.2387T>C (p.Ile796Thr) c.6413T>C (p.Ile2138Thr) c.2165T>C (p.Ile722Thr) c.5393T>C (p.Ile1798Thr) | |
8 | g.99717249T>G | CA371867243 | VPS13B | c.6608T>G (p.Ile2203Ser) n.6678T>G c.*2290T>G (n.*2290T>G) c.6533T>G (p.Ile2178Ser) c.6605T>G (p.Ile2202Ser) c.6530T>G (p.Ile2177Ser) c.6230T>G (p.Ile2077Ser) c.3494T>G (p.Ile1165Ser) c.2387T>G (p.Ile796Ser) c.6413T>G (p.Ile2138Ser) c.2165T>G (p.Ile722Ser) c.5393T>G (p.Ile1798Ser) | |
8 | g.99717250T>A | CA462440247 | VPS13B | c.6609T>A (p.Ile2203=) n.6679T>A c.*2291T>A (n.*2291T>A) c.6534T>A (p.Ile2178=) c.6606T>A (p.Ile2202=) c.6531T>A (p.Ile2177=) c.6231T>A (p.Ile2077=) c.3495T>A (p.Ile1165=) c.2388T>A (p.Ile796=) c.6414T>A (p.Ile2138=) c.2166T>A (p.Ile722=) c.5394T>A (p.Ile1798=) | |
8 | g.99717250T>C | CA462440248 | VPS13B | c.6609T>C (p.Ile2203=) n.6679T>C c.*2291T>C (n.*2291T>C) c.6534T>C (p.Ile2178=) c.6606T>C (p.Ile2202=) c.6531T>C (p.Ile2177=) c.6231T>C (p.Ile2077=) c.3495T>C (p.Ile1165=) c.2388T>C (p.Ile796=) c.6414T>C (p.Ile2138=) c.2166T>C (p.Ile722=) c.5394T>C (p.Ile1798=) | |
8 | g.99717250T>G | CA371867244 | VPS13B | c.6609T>G (p.Ile2203Met) n.6679T>G c.*2291T>G (n.*2291T>G) c.6534T>G (p.Ile2178Met) c.6606T>G (p.Ile2202Met) c.6531T>G (p.Ile2177Met) c.6231T>G (p.Ile2077Met) c.3495T>G (p.Ile1165Met) c.2388T>G (p.Ile796Met) c.6414T>G (p.Ile2138Met) c.2166T>G (p.Ile722Met) c.5394T>G (p.Ile1798Met) | |
8 | g.99717251C>A | CA371867245 | VPS13B | c.6610C>A (p.Leu2204Met) n.6680C>A c.*2292C>A (n.*2292C>A) c.6535C>A (p.Leu2179Met) c.6607C>A (p.Leu2203Met) c.6532C>A (p.Leu2178Met) c.6232C>A (p.Leu2078Met) c.3496C>A (p.Leu1166Met) c.2389C>A (p.Leu797Met) c.6415C>A (p.Leu2139Met) c.2167C>A (p.Leu723Met) c.5395C>A (p.Leu1799Met) | |
8 | g.99717251C>G | CA371867246 | VPS13B | c.6610C>G (p.Leu2204Val) n.6680C>G c.*2292C>G (n.*2292C>G) c.6535C>G (p.Leu2179Val) c.6607C>G (p.Leu2203Val) c.6532C>G (p.Leu2178Val) c.6232C>G (p.Leu2078Val) c.3496C>G (p.Leu1166Val) c.2389C>G (p.Leu797Val) c.6415C>G (p.Leu2139Val) c.2167C>G (p.Leu723Val) c.5395C>G (p.Leu1799Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717251C>T | CA462440249 | VPS13B | c.6610C>T (p.Leu2204=) n.6680C>T c.*2292C>T (n.*2292C>T) c.6535C>T (p.Leu2179=) c.6607C>T (p.Leu2203=) c.6532C>T (p.Leu2178=) c.6232C>T (p.Leu2078=) c.3496C>T (p.Leu1166=) c.2389C>T (p.Leu797=) c.6415C>T (p.Leu2139=) c.2167C>T (p.Leu723=) c.5395C>T (p.Leu1799=) | |
8 | g.99717252T>A | CA371867247 | VPS13B | c.6611T>A (p.Leu2204Gln) n.6681T>A c.*2293T>A (n.*2293T>A) c.6536T>A (p.Leu2179Gln) c.6608T>A (p.Leu2203Gln) c.6533T>A (p.Leu2178Gln) c.6233T>A (p.Leu2078Gln) c.3497T>A (p.Leu1166Gln) c.2390T>A (p.Leu797Gln) c.6416T>A (p.Leu2139Gln) c.2168T>A (p.Leu723Gln) c.5396T>A (p.Leu1799Gln) | |
8 | g.99717252T>C | CA371867248 | VPS13B | c.6611T>C (p.Leu2204Pro) n.6681T>C c.*2293T>C (n.*2293T>C) c.6536T>C (p.Leu2179Pro) c.6608T>C (p.Leu2203Pro) c.6533T>C (p.Leu2178Pro) c.6233T>C (p.Leu2078Pro) c.3497T>C (p.Leu1166Pro) c.2390T>C (p.Leu797Pro) c.6416T>C (p.Leu2139Pro) c.2168T>C (p.Leu723Pro) c.5396T>C (p.Leu1799Pro) | |
8 | g.99717252T>G | CA371867249 | VPS13B | c.6611T>G (p.Leu2204Arg) n.6681T>G c.*2293T>G (n.*2293T>G) c.6536T>G (p.Leu2179Arg) c.6608T>G (p.Leu2203Arg) c.6533T>G (p.Leu2178Arg) c.6233T>G (p.Leu2078Arg) c.3497T>G (p.Leu1166Arg) c.2390T>G (p.Leu797Arg) c.6416T>G (p.Leu2139Arg) c.2168T>G (p.Leu723Arg) c.5396T>G (p.Leu1799Arg) | |
8 | g.99717253G>A | CA462440252 | VPS13B | c.6612G>A (p.Leu2204=) n.6682G>A c.*2294G>A (n.*2294G>A) c.6537G>A (p.Leu2179=) c.6609G>A (p.Leu2203=) c.6534G>A (p.Leu2178=) c.6234G>A (p.Leu2078=) c.3498G>A (p.Leu1166=) c.2391G>A (p.Leu797=) c.6417G>A (p.Leu2139=) c.2169G>A (p.Leu723=) c.5397G>A (p.Leu1799=) | gnomAD v4 COSMIC COSMIC |
8 | g.99717253G>C | CA462440250 | VPS13B | c.6612G>C (p.Leu2204=) n.6682G>C c.*2294G>C (n.*2294G>C) c.6537G>C (p.Leu2179=) c.6609G>C (p.Leu2203=) c.6534G>C (p.Leu2178=) c.6234G>C (p.Leu2078=) c.3498G>C (p.Leu1166=) c.2391G>C (p.Leu797=) c.6417G>C (p.Leu2139=) c.2169G>C (p.Leu723=) c.5397G>C (p.Leu1799=) | |
8 | g.99717253G>T | CA462440251 | VPS13B | c.6612G>T (p.Leu2204=) n.6682G>T c.*2294G>T (n.*2294G>T) c.6537G>T (p.Leu2179=) c.6609G>T (p.Leu2203=) c.6534G>T (p.Leu2178=) c.6234G>T (p.Leu2078=) c.3498G>T (p.Leu1166=) c.2391G>T (p.Leu797=) c.6417G>T (p.Leu2139=) c.2169G>T (p.Leu723=) c.5397G>T (p.Leu1799=) | |
8 | g.99717254A>C | CA371867251 | VPS13B | c.6613A>C (p.Ile2205Leu) n.6683A>C c.*2295A>C (n.*2295A>C) c.6538A>C (p.Ile2180Leu) c.6610A>C (p.Ile2204Leu) c.6535A>C (p.Ile2179Leu) c.6235A>C (p.Ile2079Leu) c.3499A>C (p.Ile1167Leu) c.2392A>C (p.Ile798Leu) c.6418A>C (p.Ile2140Leu) c.2170A>C (p.Ile724Leu) c.5398A>C (p.Ile1800Leu) | |
8 | g.99717254A>G | CA371867252 | VPS13B | c.6613A>G (p.Ile2205Val) n.6683A>G c.*2295A>G (n.*2295A>G) c.6538A>G (p.Ile2180Val) c.6610A>G (p.Ile2204Val) c.6535A>G (p.Ile2179Val) c.6235A>G (p.Ile2079Val) c.3499A>G (p.Ile1167Val) c.2392A>G (p.Ile798Val) c.6418A>G (p.Ile2140Val) c.2170A>G (p.Ile724Val) c.5398A>G (p.Ile1800Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717254A>T | CA371867250 | VPS13B | c.6613A>T (p.Ile2205Leu) n.6683A>T c.*2295A>T (n.*2295A>T) c.6538A>T (p.Ile2180Leu) c.6610A>T (p.Ile2204Leu) c.6535A>T (p.Ile2179Leu) c.6235A>T (p.Ile2079Leu) c.3499A>T (p.Ile1167Leu) c.2392A>T (p.Ile798Leu) c.6418A>T (p.Ile2140Leu) c.2170A>T (p.Ile724Leu) c.5398A>T (p.Ile1800Leu) | |
8 | g.99717255T>A | CA371867253 | VPS13B | c.6614T>A (p.Ile2205Lys) n.6684T>A c.*2296T>A (n.*2296T>A) c.6539T>A (p.Ile2180Lys) c.6611T>A (p.Ile2204Lys) c.6536T>A (p.Ile2179Lys) c.6236T>A (p.Ile2079Lys) c.3500T>A (p.Ile1167Lys) c.2393T>A (p.Ile798Lys) c.6419T>A (p.Ile2140Lys) c.2171T>A (p.Ile724Lys) c.5399T>A (p.Ile1800Lys) | |
8 | g.99717255T>C | CA183028980 | VPS13B | c.6614T>C (p.Ile2205Thr) n.6684T>C c.*2296T>C (n.*2296T>C) c.6539T>C (p.Ile2180Thr) c.6611T>C (p.Ile2204Thr) c.6536T>C (p.Ile2179Thr) c.6236T>C (p.Ile2079Thr) c.3500T>C (p.Ile1167Thr) c.2393T>C (p.Ile798Thr) c.6419T>C (p.Ile2140Thr) c.2171T>C (p.Ile724Thr) c.5399T>C (p.Ile1800Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717255T>G | CA371867254 | VPS13B | c.6614T>G (p.Ile2205Arg) n.6684T>G c.*2296T>G (n.*2296T>G) c.6539T>G (p.Ile2180Arg) c.6611T>G (p.Ile2204Arg) c.6536T>G (p.Ile2179Arg) c.6236T>G (p.Ile2079Arg) c.3500T>G (p.Ile1167Arg) c.2393T>G (p.Ile798Arg) c.6419T>G (p.Ile2140Arg) c.2171T>G (p.Ile724Arg) c.5399T>G (p.Ile1800Arg) | ClinVar |
8 | g.99717256A>C | CA462440253 | VPS13B | c.6615A>C (p.Ile2205=) n.6685A>C c.*2297A>C (n.*2297A>C) c.6540A>C (p.Ile2180=) c.6612A>C (p.Ile2204=) c.6537A>C (p.Ile2179=) c.6237A>C (p.Ile2079=) c.3501A>C (p.Ile1167=) c.2394A>C (p.Ile798=) c.6420A>C (p.Ile2140=) c.2172A>C (p.Ile724=) c.5400A>C (p.Ile1800=) | |
8 | g.99717256A>G | CA371867255 | VPS13B | c.6615A>G (p.Ile2205Met) n.6685A>G c.*2297A>G (n.*2297A>G) c.6540A>G (p.Ile2180Met) c.6612A>G (p.Ile2204Met) c.6537A>G (p.Ile2179Met) c.6237A>G (p.Ile2079Met) c.3501A>G (p.Ile1167Met) c.2394A>G (p.Ile798Met) c.6420A>G (p.Ile2140Met) c.2172A>G (p.Ile724Met) c.5400A>G (p.Ile1800Met) | gnomAD v4 |
8 | g.99717256A>T | CA462440254 | VPS13B | c.6615A>T (p.Ile2205=) n.6685A>T c.*2297A>T (n.*2297A>T) c.6540A>T (p.Ile2180=) c.6612A>T (p.Ile2204=) c.6537A>T (p.Ile2179=) c.6237A>T (p.Ile2079=) c.3501A>T (p.Ile1167=) c.2394A>T (p.Ile798=) c.6420A>T (p.Ile2140=) c.2172A>T (p.Ile724=) c.5400A>T (p.Ile1800=) | |
8 | g.99717257G>A | CA371867256 | VPS13B | c.6616G>A (p.Gly2206Arg) n.6686G>A c.*2298G>A (n.*2298G>A) c.6541G>A (p.Gly2181Arg) c.6613G>A (p.Gly2205Arg) c.6538G>A (p.Gly2180Arg) c.6238G>A (p.Gly2080Arg) c.3502G>A (p.Gly1168Arg) c.2395G>A (p.Gly799Arg) c.6421G>A (p.Gly2141Arg) c.2173G>A (p.Gly725Arg) c.5401G>A (p.Gly1801Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717257G>C | CA371867257 | VPS13B | c.6616G>C (p.Gly2206Arg) n.6686G>C c.*2298G>C (n.*2298G>C) c.6541G>C (p.Gly2181Arg) c.6613G>C (p.Gly2205Arg) c.6538G>C (p.Gly2180Arg) c.6238G>C (p.Gly2080Arg) c.3502G>C (p.Gly1168Arg) c.2395G>C (p.Gly799Arg) c.6421G>C (p.Gly2141Arg) c.2173G>C (p.Gly725Arg) c.5401G>C (p.Gly1801Arg) | |
8 | g.99717257G>T | CA371867258 | VPS13B | c.6616G>T (p.Gly2206Ter) n.6686G>T c.*2298G>T (n.*2298G>T) c.6541G>T (p.Gly2181Ter) c.6613G>T (p.Gly2205Ter) c.6538G>T (p.Gly2180Ter) c.6238G>T (p.Gly2080Ter) c.3502G>T (p.Gly1168Ter) c.2395G>T (p.Gly799Ter) c.6421G>T (p.Gly2141Ter) c.2173G>T (p.Gly725Ter) c.5401G>T (p.Gly1801Ter) | |
8 | g.99717258G>A | CA371867259 | VPS13B | c.6617G>A (p.Gly2206Glu) n.6687G>A c.*2299G>A (n.*2299G>A) c.6542G>A (p.Gly2181Glu) c.6614G>A (p.Gly2205Glu) c.6539G>A (p.Gly2180Glu) c.6239G>A (p.Gly2080Glu) c.3503G>A (p.Gly1168Glu) c.2396G>A (p.Gly799Glu) c.6422G>A (p.Gly2141Glu) c.2174G>A (p.Gly725Glu) c.5402G>A (p.Gly1801Glu) | ClinVar |
8 | g.99717258G>C | CA371867260 | VPS13B | c.6617G>C (p.Gly2206Ala) n.6687G>C c.*2299G>C (n.*2299G>C) c.6542G>C (p.Gly2181Ala) c.6614G>C (p.Gly2205Ala) c.6539G>C (p.Gly2180Ala) c.6239G>C (p.Gly2080Ala) c.3503G>C (p.Gly1168Ala) c.2396G>C (p.Gly799Ala) c.6422G>C (p.Gly2141Ala) c.2174G>C (p.Gly725Ala) c.5402G>C (p.Gly1801Ala) | |
8 | g.99717258G>T | CA371867261 | VPS13B | c.6617G>T (p.Gly2206Val) n.6687G>T c.*2299G>T (n.*2299G>T) c.6542G>T (p.Gly2181Val) c.6614G>T (p.Gly2205Val) c.6539G>T (p.Gly2180Val) c.6239G>T (p.Gly2080Val) c.3503G>T (p.Gly1168Val) c.2396G>T (p.Gly799Val) c.6422G>T (p.Gly2141Val) c.2174G>T (p.Gly725Val) c.5402G>T (p.Gly1801Val) | |
8 | g.99717259A>C | CA462440255 | VPS13B | c.6618A>C (p.Gly2206=) n.6688A>C c.*2300A>C (n.*2300A>C) c.6543A>C (p.Gly2181=) c.6615A>C (p.Gly2205=) c.6540A>C (p.Gly2180=) c.6240A>C (p.Gly2080=) c.3504A>C (p.Gly1168=) c.2397A>C (p.Gly799=) c.6423A>C (p.Gly2141=) c.2175A>C (p.Gly725=) c.5403A>C (p.Gly1801=) | |
8 | g.99717259A>G | CA183028984 | VPS13B | c.6618A>G (p.Gly2206=) n.6688A>G c.*2300A>G (n.*2300A>G) c.6543A>G (p.Gly2181=) c.6615A>G (p.Gly2205=) c.6540A>G (p.Gly2180=) c.6240A>G (p.Gly2080=) c.3504A>G (p.Gly1168=) c.2397A>G (p.Gly799=) c.6423A>G (p.Gly2141=) c.2175A>G (p.Gly725=) c.5403A>G (p.Gly1801=) | dbSNP |
8 | g.99717259A>T | CA4824024 | VPS13B | c.6618A>T (p.Gly2206=) n.6688A>T c.*2300A>T (n.*2300A>T) c.6543A>T (p.Gly2181=) c.6615A>T (p.Gly2205=) c.6540A>T (p.Gly2180=) c.6240A>T (p.Gly2080=) c.3504A>T (p.Gly1168=) c.2397A>T (p.Gly799=) c.6423A>T (p.Gly2141=) c.2175A>T (p.Gly725=) c.5403A>T (p.Gly1801=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717260C>A | CA4824025 | VPS13B | c.6619C>A (p.Pro2207Thr) n.6689C>A c.*2301C>A (n.*2301C>A) c.6544C>A (p.Pro2182Thr) c.6616C>A (p.Pro2206Thr) c.6541C>A (p.Pro2181Thr) c.6241C>A (p.Pro2081Thr) c.3505C>A (p.Pro1169Thr) c.2398C>A (p.Pro800Thr) c.6424C>A (p.Pro2142Thr) c.2176C>A (p.Pro726Thr) c.5404C>A (p.Pro1802Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717260C>G | CA371867263 | VPS13B | c.6619C>G (p.Pro2207Ala) n.6689C>G c.*2301C>G (n.*2301C>G) c.6544C>G (p.Pro2182Ala) c.6616C>G (p.Pro2206Ala) c.6541C>G (p.Pro2181Ala) c.6241C>G (p.Pro2081Ala) c.3505C>G (p.Pro1169Ala) c.2398C>G (p.Pro800Ala) c.6424C>G (p.Pro2142Ala) c.2176C>G (p.Pro726Ala) c.5404C>G (p.Pro1802Ala) | |
8 | g.99717260C>T | CA371867262 | VPS13B | c.6619C>T (p.Pro2207Ser) n.6689C>T c.*2301C>T (n.*2301C>T) c.6544C>T (p.Pro2182Ser) c.6616C>T (p.Pro2206Ser) c.6541C>T (p.Pro2181Ser) c.6241C>T (p.Pro2081Ser) c.3505C>T (p.Pro1169Ser) c.2398C>T (p.Pro800Ser) c.6424C>T (p.Pro2142Ser) c.2176C>T (p.Pro726Ser) c.5404C>T (p.Pro1802Ser) | ClinVar dbSNP |
8 | g.99717261C>A | CA371867264 | VPS13B | c.6620C>A (p.Pro2207Gln) n.6690C>A c.*2302C>A (n.*2302C>A) c.6545C>A (p.Pro2182Gln) c.6617C>A (p.Pro2206Gln) c.6542C>A (p.Pro2181Gln) c.6242C>A (p.Pro2081Gln) c.3506C>A (p.Pro1169Gln) c.2399C>A (p.Pro800Gln) c.6425C>A (p.Pro2142Gln) c.2177C>A (p.Pro726Gln) c.5405C>A (p.Pro1802Gln) | |
8 | g.99717261C>G | CA371867265 | VPS13B | c.6620C>G (p.Pro2207Arg) n.6690C>G c.*2302C>G (n.*2302C>G) c.6545C>G (p.Pro2182Arg) c.6617C>G (p.Pro2206Arg) c.6542C>G (p.Pro2181Arg) c.6242C>G (p.Pro2081Arg) c.3506C>G (p.Pro1169Arg) c.2399C>G (p.Pro800Arg) c.6425C>G (p.Pro2142Arg) c.2177C>G (p.Pro726Arg) c.5405C>G (p.Pro1802Arg) | |
8 | g.99717261C>T | CA371867266 | VPS13B | c.6620C>T (p.Pro2207Leu) n.6690C>T c.*2302C>T (n.*2302C>T) c.6545C>T (p.Pro2182Leu) c.6617C>T (p.Pro2206Leu) c.6542C>T (p.Pro2181Leu) c.6242C>T (p.Pro2081Leu) c.3506C>T (p.Pro1169Leu) c.2399C>T (p.Pro800Leu) c.6425C>T (p.Pro2142Leu) c.2177C>T (p.Pro726Leu) c.5405C>T (p.Pro1802Leu) | gnomAD v4 |
8 | g.99717262A>C | CA462440256 | VPS13B | c.6621A>C (p.Pro2207=) n.6691A>C c.*2303A>C (n.*2303A>C) c.6546A>C (p.Pro2182=) c.6618A>C (p.Pro2206=) c.6543A>C (p.Pro2181=) c.6243A>C (p.Pro2081=) c.3507A>C (p.Pro1169=) c.2400A>C (p.Pro800=) c.6426A>C (p.Pro2142=) c.2178A>C (p.Pro726=) c.5406A>C (p.Pro1802=) | |
8 | g.99717262A>G | CA4824026 | VPS13B | c.6621A>G (p.Pro2207=) n.6691A>G c.*2303A>G (n.*2303A>G) c.6546A>G (p.Pro2182=) c.6618A>G (p.Pro2206=) c.6543A>G (p.Pro2181=) c.6243A>G (p.Pro2081=) c.3507A>G (p.Pro1169=) c.2400A>G (p.Pro800=) c.6426A>G (p.Pro2142=) c.2178A>G (p.Pro726=) c.5406A>G (p.Pro1802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99717262A>T | CA462440257 | VPS13B | c.6621A>T (p.Pro2207=) n.6691A>T c.*2303A>T (n.*2303A>T) c.6546A>T (p.Pro2182=) c.6618A>T (p.Pro2206=) c.6543A>T (p.Pro2181=) c.6243A>T (p.Pro2081=) c.3507A>T (p.Pro1169=) c.2400A>T (p.Pro800=) c.6426A>T (p.Pro2142=) c.2178A>T (p.Pro726=) c.5406A>T (p.Pro1802=) | |
8 | g.99717263T>A | CA371867267 | VPS13B | c.6622T>A (p.Cys2208Ser) n.6692T>A c.*2304T>A (n.*2304T>A) c.6547T>A (p.Cys2183Ser) c.6619T>A (p.Cys2207Ser) c.6544T>A (p.Cys2182Ser) c.6244T>A (p.Cys2082Ser) c.3508T>A (p.Cys1170Ser) c.2401T>A (p.Cys801Ser) c.6427T>A (p.Cys2143Ser) c.2179T>A (p.Cys727Ser) c.5407T>A (p.Cys1803Ser) | |
8 | g.99717263T>C | CA371867268 | VPS13B | c.6622T>C (p.Cys2208Arg) n.6692T>C c.*2304T>C (n.*2304T>C) c.6547T>C (p.Cys2183Arg) c.6619T>C (p.Cys2207Arg) c.6544T>C (p.Cys2182Arg) c.6244T>C (p.Cys2082Arg) c.3508T>C (p.Cys1170Arg) c.2401T>C (p.Cys801Arg) c.6427T>C (p.Cys2143Arg) c.2179T>C (p.Cys727Arg) c.5407T>C (p.Cys1803Arg) | |
8 | g.99717263T>G | CA371867269 | VPS13B | c.6622T>G (p.Cys2208Gly) n.6692T>G c.*2304T>G (n.*2304T>G) c.6547T>G (p.Cys2183Gly) c.6619T>G (p.Cys2207Gly) c.6544T>G (p.Cys2182Gly) c.6244T>G (p.Cys2082Gly) c.3508T>G (p.Cys1170Gly) c.2401T>G (p.Cys801Gly) c.6427T>G (p.Cys2143Gly) c.2179T>G (p.Cys727Gly) c.5407T>G (p.Cys1803Gly) | |
8 | g.99717264G>A | CA371867270 | VPS13B | c.6623G>A (p.Cys2208Tyr) n.6693G>A c.*2305G>A (n.*2305G>A) c.6548G>A (p.Cys2183Tyr) c.6620G>A (p.Cys2207Tyr) c.6545G>A (p.Cys2182Tyr) c.6245G>A (p.Cys2082Tyr) c.3509G>A (p.Cys1170Tyr) c.2402G>A (p.Cys801Tyr) c.6428G>A (p.Cys2143Tyr) c.2180G>A (p.Cys727Tyr) c.5408G>A (p.Cys1803Tyr) | dbSNP gnomAD v4 |
8 | g.99717264G>C | CA371867272 | VPS13B | c.6623G>C (p.Cys2208Ser) n.6693G>C c.*2305G>C (n.*2305G>C) c.6548G>C (p.Cys2183Ser) c.6620G>C (p.Cys2207Ser) c.6545G>C (p.Cys2182Ser) c.6245G>C (p.Cys2082Ser) c.3509G>C (p.Cys1170Ser) c.2402G>C (p.Cys801Ser) c.6428G>C (p.Cys2143Ser) c.2180G>C (p.Cys727Ser) c.5408G>C (p.Cys1803Ser) | gnomAD v4 |
8 | g.99717264G>T | CA371867271 | VPS13B | c.6623G>T (p.Cys2208Phe) n.6693G>T c.*2305G>T (n.*2305G>T) c.6548G>T (p.Cys2183Phe) c.6620G>T (p.Cys2207Phe) c.6545G>T (p.Cys2182Phe) c.6245G>T (p.Cys2082Phe) c.3509G>T (p.Cys1170Phe) c.2402G>T (p.Cys801Phe) c.6428G>T (p.Cys2143Phe) c.2180G>T (p.Cys727Phe) c.5408G>T (p.Cys1803Phe) | gnomAD v4 |
8 | g.99717265T>A | CA371867273 | VPS13B | c.6624T>A (p.Cys2208Ter) n.6694T>A c.*2306T>A (n.*2306T>A) c.6549T>A (p.Cys2183Ter) c.6621T>A (p.Cys2207Ter) c.6546T>A (p.Cys2182Ter) c.6246T>A (p.Cys2082Ter) c.3510T>A (p.Cys1170Ter) c.2403T>A (p.Cys801Ter) c.6429T>A (p.Cys2143Ter) c.2181T>A (p.Cys727Ter) c.5409T>A (p.Cys1803Ter) | |
8 | g.99717265T>C | CA462440258 | VPS13B | c.6624T>C (p.Cys2208=) n.6694T>C c.*2306T>C (n.*2306T>C) c.6549T>C (p.Cys2183=) c.6621T>C (p.Cys2207=) c.6546T>C (p.Cys2182=) c.6246T>C (p.Cys2082=) c.3510T>C (p.Cys1170=) c.2403T>C (p.Cys801=) c.6429T>C (p.Cys2143=) c.2181T>C (p.Cys727=) c.5409T>C (p.Cys1803=) | |
8 | g.99717265T>G | CA371867274 | VPS13B | c.6624T>G (p.Cys2208Trp) n.6694T>G c.*2306T>G (n.*2306T>G) c.6549T>G (p.Cys2183Trp) c.6621T>G (p.Cys2207Trp) c.6546T>G (p.Cys2182Trp) c.6246T>G (p.Cys2082Trp) c.3510T>G (p.Cys1170Trp) c.2403T>G (p.Cys801Trp) c.6429T>G (p.Cys2143Trp) c.2181T>G (p.Cys727Trp) c.5409T>G (p.Cys1803Trp) | dbSNP gnomAD v4 |
8 | g.99717266T>A | CA371867275 | VPS13B | c.6625T>A (p.Cys2209Ser) n.6695T>A c.*2307T>A (n.*2307T>A) c.6550T>A (p.Cys2184Ser) c.6622T>A (p.Cys2208Ser) c.6547T>A (p.Cys2183Ser) c.6247T>A (p.Cys2083Ser) c.3511T>A (p.Cys1171Ser) c.2404T>A (p.Cys802Ser) c.6430T>A (p.Cys2144Ser) c.2182T>A (p.Cys728Ser) c.5410T>A (p.Cys1804Ser) | |
8 | g.99717266T>C | CA371867276 | VPS13B | c.6625T>C (p.Cys2209Arg) n.6695T>C c.*2307T>C (n.*2307T>C) c.6550T>C (p.Cys2184Arg) c.6622T>C (p.Cys2208Arg) c.6547T>C (p.Cys2183Arg) c.6247T>C (p.Cys2083Arg) c.3511T>C (p.Cys1171Arg) c.2404T>C (p.Cys802Arg) c.6430T>C (p.Cys2144Arg) c.2182T>C (p.Cys728Arg) c.5410T>C (p.Cys1804Arg) | |
8 | g.99717266T>G | CA371867277 | VPS13B | c.6625T>G (p.Cys2209Gly) n.6695T>G c.*2307T>G (n.*2307T>G) c.6550T>G (p.Cys2184Gly) c.6622T>G (p.Cys2208Gly) c.6547T>G (p.Cys2183Gly) c.6247T>G (p.Cys2083Gly) c.3511T>G (p.Cys1171Gly) c.2404T>G (p.Cys802Gly) c.6430T>G (p.Cys2144Gly) c.2182T>G (p.Cys728Gly) c.5410T>G (p.Cys1804Gly) | |
8 | g.99717267G>A | CA371867279 | VPS13B | c.6626G>A (p.Cys2209Tyr) n.6696G>A c.*2308G>A (n.*2308G>A) c.6551G>A (p.Cys2184Tyr) c.6623G>A (p.Cys2208Tyr) c.6548G>A (p.Cys2183Tyr) c.6248G>A (p.Cys2083Tyr) c.3512G>A (p.Cys1171Tyr) c.2405G>A (p.Cys802Tyr) c.6431G>A (p.Cys2144Tyr) c.2183G>A (p.Cys728Tyr) c.5411G>A (p.Cys1804Tyr) | |
8 | g.99717267G>C | CA371867280 | VPS13B | c.6626G>C (p.Cys2209Ser) n.6696G>C c.*2308G>C (n.*2308G>C) c.6551G>C (p.Cys2184Ser) c.6623G>C (p.Cys2208Ser) c.6548G>C (p.Cys2183Ser) c.6248G>C (p.Cys2083Ser) c.3512G>C (p.Cys1171Ser) c.2405G>C (p.Cys802Ser) c.6431G>C (p.Cys2144Ser) c.2183G>C (p.Cys728Ser) c.5411G>C (p.Cys1804Ser) | |
8 | g.99717267G>T | CA371867278 | VPS13B | c.6626G>T (p.Cys2209Phe) n.6696G>T c.*2308G>T (n.*2308G>T) c.6551G>T (p.Cys2184Phe) c.6623G>T (p.Cys2208Phe) c.6548G>T (p.Cys2183Phe) c.6248G>T (p.Cys2083Phe) c.3512G>T (p.Cys1171Phe) c.2405G>T (p.Cys802Phe) c.6431G>T (p.Cys2144Phe) c.2183G>T (p.Cys728Phe) c.5411G>T (p.Cys1804Phe) | |
8 | g.99717268T>A | CA371867282 | VPS13B | c.6627T>A (p.Cys2209Ter) n.6697T>A c.*2309T>A (n.*2309T>A) c.6552T>A (p.Cys2184Ter) c.6624T>A (p.Cys2208Ter) c.6549T>A (p.Cys2183Ter) c.6249T>A (p.Cys2083Ter) c.3513T>A (p.Cys1171Ter) c.2406T>A (p.Cys802Ter) c.6432T>A (p.Cys2144Ter) c.2184T>A (p.Cys728Ter) c.5412T>A (p.Cys1804Ter) | ClinVar |
8 | g.99717268T>C | CA462440259 | VPS13B | c.6627T>C (p.Cys2209=) n.6697T>C c.*2309T>C (n.*2309T>C) c.6552T>C (p.Cys2184=) c.6624T>C (p.Cys2208=) c.6549T>C (p.Cys2183=) c.6249T>C (p.Cys2083=) c.3513T>C (p.Cys1171=) c.2406T>C (p.Cys802=) c.6432T>C (p.Cys2144=) c.2184T>C (p.Cys728=) c.5412T>C (p.Cys1804=) | ClinVar |
8 | g.99717268T>G | CA371867281 | VPS13B | c.6627T>G (p.Cys2209Trp) n.6697T>G c.*2309T>G (n.*2309T>G) c.6552T>G (p.Cys2184Trp) c.6624T>G (p.Cys2208Trp) c.6549T>G (p.Cys2183Trp) c.6249T>G (p.Cys2083Trp) c.3513T>G (p.Cys1171Trp) c.2406T>G (p.Cys802Trp) c.6432T>G (p.Cys2144Trp) c.2184T>G (p.Cys728Trp) c.5412T>G (p.Cys1804Trp) | |
8 | g.99717268dup | CA2580079139 | VPS13B | c.6627dup (p.Ala2210CysfsTer8) n.6697dup c.*2309dup (n.*2309dup) c.6552dup (p.Ala2185CysfsTer8) c.6624dup (p.Ala2209CysfsTer8) c.6549dup (p.Ala2184CysfsTer8) c.6249dup (p.Ala2084CysfsTer8) c.3513dup (p.Ala1172CysfsTer8) c.2406dup (p.Ala803CysfsTer8) c.6432dup (p.Ala2145CysfsTer8) c.2184dup (p.Ala729CysfsTer8) c.5412dup (p.Ala1805CysfsTer8) | ClinVar |
8 | g.99717269G>A | CA371867283 | VPS13B | c.6628G>A (p.Ala2210Thr) n.6698G>A c.*2310G>A (n.*2310G>A) c.6553G>A (p.Ala2185Thr) c.6625G>A (p.Ala2209Thr) c.6550G>A (p.Ala2184Thr) c.6250G>A (p.Ala2084Thr) c.3514G>A (p.Ala1172Thr) c.2407G>A (p.Ala803Thr) c.6433G>A (p.Ala2145Thr) c.2185G>A (p.Ala729Thr) c.5413G>A (p.Ala1805Thr) | gnomAD v4 |
8 | g.99717269G>C | CA371867284 | VPS13B | c.6628G>C (p.Ala2210Pro) n.6698G>C c.*2310G>C (n.*2310G>C) c.6553G>C (p.Ala2185Pro) c.6625G>C (p.Ala2209Pro) c.6550G>C (p.Ala2184Pro) c.6250G>C (p.Ala2084Pro) c.3514G>C (p.Ala1172Pro) c.2407G>C (p.Ala803Pro) c.6433G>C (p.Ala2145Pro) c.2185G>C (p.Ala729Pro) c.5413G>C (p.Ala1805Pro) | |
8 | g.99717269G>T | CA371867285 | VPS13B | c.6628G>T (p.Ala2210Ser) n.6698G>T c.*2310G>T (n.*2310G>T) c.6553G>T (p.Ala2185Ser) c.6625G>T (p.Ala2209Ser) c.6550G>T (p.Ala2184Ser) c.6250G>T (p.Ala2084Ser) c.3514G>T (p.Ala1172Ser) c.2407G>T (p.Ala803Ser) c.6433G>T (p.Ala2145Ser) c.2185G>T (p.Ala729Ser) c.5413G>T (p.Ala1805Ser) | |
8 | g.99717270C>A | CA371867286 | VPS13B | c.6629C>A (p.Ala2210Asp) n.6699C>A c.*2311C>A (n.*2311C>A) c.6554C>A (p.Ala2185Asp) c.6626C>A (p.Ala2209Asp) c.6551C>A (p.Ala2184Asp) c.6251C>A (p.Ala2084Asp) c.3515C>A (p.Ala1172Asp) c.2408C>A (p.Ala803Asp) c.6434C>A (p.Ala2145Asp) c.2186C>A (p.Ala729Asp) c.5414C>A (p.Ala1805Asp) | |
8 | g.99717270C>G | CA371867287 | VPS13B | c.6629C>G (p.Ala2210Gly) n.6699C>G c.*2311C>G (n.*2311C>G) c.6554C>G (p.Ala2185Gly) c.6626C>G (p.Ala2209Gly) c.6551C>G (p.Ala2184Gly) c.6251C>G (p.Ala2084Gly) c.3515C>G (p.Ala1172Gly) c.2408C>G (p.Ala803Gly) c.6434C>G (p.Ala2145Gly) c.2186C>G (p.Ala729Gly) c.5414C>G (p.Ala1805Gly) | |
8 | g.99717270C>T | CA371867288 | VPS13B | c.6629C>T (p.Ala2210Val) n.6699C>T c.*2311C>T (n.*2311C>T) c.6554C>T (p.Ala2185Val) c.6626C>T (p.Ala2209Val) c.6551C>T (p.Ala2184Val) c.6251C>T (p.Ala2084Val) c.3515C>T (p.Ala1172Val) c.2408C>T (p.Ala803Val) c.6434C>T (p.Ala2145Val) c.2186C>T (p.Ala729Val) c.5414C>T (p.Ala1805Val) | |
8 | g.99717271T>A | CA462440260 | VPS13B | c.6630T>A (p.Ala2210=) n.6700T>A c.*2312T>A (n.*2312T>A) c.6555T>A (p.Ala2185=) c.6627T>A (p.Ala2209=) c.6552T>A (p.Ala2184=) c.6252T>A (p.Ala2084=) c.3516T>A (p.Ala1172=) c.2409T>A (p.Ala803=) c.6435T>A (p.Ala2145=) c.2187T>A (p.Ala729=) c.5415T>A (p.Ala1805=) | |
8 | g.99717271T>C | CA462440261 | VPS13B | c.6630T>C (p.Ala2210=) n.6700T>C c.*2312T>C (n.*2312T>C) c.6555T>C (p.Ala2185=) c.6627T>C (p.Ala2209=) c.6552T>C (p.Ala2184=) c.6252T>C (p.Ala2084=) c.3516T>C (p.Ala1172=) c.2409T>C (p.Ala803=) c.6435T>C (p.Ala2145=) c.2187T>C (p.Ala729=) c.5415T>C (p.Ala1805=) | dbSNP |
8 | g.99717271T>G | CA462440262 | VPS13B | c.6630T>G (p.Ala2210=) n.6700T>G c.*2312T>G (n.*2312T>G) c.6555T>G (p.Ala2185=) c.6627T>G (p.Ala2209=) c.6552T>G (p.Ala2184=) c.6252T>G (p.Ala2084=) c.3516T>G (p.Ala1172=) c.2409T>G (p.Ala803=) c.6435T>G (p.Ala2145=) c.2187T>G (p.Ala729=) c.5415T>G (p.Ala1805=) | |
8 | g.99717272A>C | CA371867289 | VPS13B | c.6631A>C (p.Thr2211Pro) n.6701A>C c.*2313A>C (n.*2313A>C) c.6556A>C (p.Thr2186Pro) c.6628A>C (p.Thr2210Pro) c.6553A>C (p.Thr2185Pro) c.6253A>C (p.Thr2085Pro) c.3517A>C (p.Thr1173Pro) c.2410A>C (p.Thr804Pro) c.6436A>C (p.Thr2146Pro) c.2188A>C (p.Thr730Pro) c.5416A>C (p.Thr1806Pro) | |
8 | g.99717272A>G | CA4824027 | VPS13B | c.6631A>G (p.Thr2211Ala) n.6701A>G c.*2313A>G (n.*2313A>G) c.6556A>G (p.Thr2186Ala) c.6628A>G (p.Thr2210Ala) c.6553A>G (p.Thr2185Ala) c.6253A>G (p.Thr2085Ala) c.3517A>G (p.Thr1173Ala) c.2410A>G (p.Thr804Ala) c.6436A>G (p.Thr2146Ala) c.2188A>G (p.Thr730Ala) c.5416A>G (p.Thr1806Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717272A>T | CA371867290 | VPS13B | c.6631A>T (p.Thr2211Ser) n.6701A>T c.*2313A>T (n.*2313A>T) c.6556A>T (p.Thr2186Ser) c.6628A>T (p.Thr2210Ser) c.6553A>T (p.Thr2185Ser) c.6253A>T (p.Thr2085Ser) c.3517A>T (p.Thr1173Ser) c.2410A>T (p.Thr804Ser) c.6436A>T (p.Thr2146Ser) c.2188A>T (p.Thr730Ser) c.5416A>T (p.Thr1806Ser) | gnomAD v4 |
8 | g.99717273C>A | CA371867291 | VPS13B | c.6632C>A (p.Thr2211Asn) n.6702C>A c.*2314C>A (n.*2314C>A) c.6557C>A (p.Thr2186Asn) c.6629C>A (p.Thr2210Asn) c.6554C>A (p.Thr2185Asn) c.6254C>A (p.Thr2085Asn) c.3518C>A (p.Thr1173Asn) c.2411C>A (p.Thr804Asn) c.6437C>A (p.Thr2146Asn) c.2189C>A (p.Thr730Asn) c.5417C>A (p.Thr1806Asn) | |
8 | g.99717273C>G | CA371867292 | VPS13B | c.6632C>G (p.Thr2211Ser) n.6702C>G c.*2314C>G (n.*2314C>G) c.6557C>G (p.Thr2186Ser) c.6629C>G (p.Thr2210Ser) c.6554C>G (p.Thr2185Ser) c.6254C>G (p.Thr2085Ser) c.3518C>G (p.Thr1173Ser) c.2411C>G (p.Thr804Ser) c.6437C>G (p.Thr2146Ser) c.2189C>G (p.Thr730Ser) c.5417C>G (p.Thr1806Ser) | |
8 | g.99717273C>T | CA371867293 | VPS13B | c.6632C>T (p.Thr2211Ile) n.6702C>T c.*2314C>T (n.*2314C>T) c.6557C>T (p.Thr2186Ile) c.6629C>T (p.Thr2210Ile) c.6554C>T (p.Thr2185Ile) c.6254C>T (p.Thr2085Ile) c.3518C>T (p.Thr1173Ile) c.2411C>T (p.Thr804Ile) c.6437C>T (p.Thr2146Ile) c.2189C>T (p.Thr730Ile) c.5417C>T (p.Thr1806Ile) | |
8 | g.99717274T>A | CA462440263 | VPS13B | c.6633T>A (p.Thr2211=) n.6703T>A c.*2315T>A (n.*2315T>A) c.6558T>A (p.Thr2186=) c.6630T>A (p.Thr2210=) c.6555T>A (p.Thr2185=) c.6255T>A (p.Thr2085=) c.3519T>A (p.Thr1173=) c.2412T>A (p.Thr804=) c.6438T>A (p.Thr2146=) c.2190T>A (p.Thr730=) c.5418T>A (p.Thr1806=) | |
8 | g.99717274T>C | CA462440264 | VPS13B | c.6633T>C (p.Thr2211=) n.6703T>C c.*2315T>C (n.*2315T>C) c.6558T>C (p.Thr2186=) c.6630T>C (p.Thr2210=) c.6555T>C (p.Thr2185=) c.6255T>C (p.Thr2085=) c.3519T>C (p.Thr1173=) c.2412T>C (p.Thr804=) c.6438T>C (p.Thr2146=) c.2190T>C (p.Thr730=) c.5418T>C (p.Thr1806=) | COSMIC COSMIC |
8 | g.99717274T>G | CA4824028 | VPS13B | c.6633T>G (p.Thr2211=) n.6703T>G c.*2315T>G (n.*2315T>G) c.6558T>G (p.Thr2186=) c.6630T>G (p.Thr2210=) c.6555T>G (p.Thr2185=) c.6255T>G (p.Thr2085=) c.3519T>G (p.Thr1173=) c.2412T>G (p.Thr804=) c.6438T>G (p.Thr2146=) c.2190T>G (p.Thr730=) c.5418T>G (p.Thr1806=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.99717275G>A | CA371867296 | VPS13B | c.6634G>A (p.Ala2212Thr) n.6704G>A c.*2316G>A (n.*2316G>A) c.6559G>A (p.Ala2187Thr) c.6631G>A (p.Ala2211Thr) c.6556G>A (p.Ala2186Thr) c.6256G>A (p.Ala2086Thr) c.3520G>A (p.Ala1174Thr) c.2413G>A (p.Ala805Thr) c.6439G>A (p.Ala2147Thr) c.2191G>A (p.Ala731Thr) c.5419G>A (p.Ala1807Thr) | gnomAD v4 |
8 | g.99717275G>C | CA371867295 | VPS13B | c.6634G>C (p.Ala2212Pro) n.6704G>C c.*2316G>C (n.*2316G>C) c.6559G>C (p.Ala2187Pro) c.6631G>C (p.Ala2211Pro) c.6556G>C (p.Ala2186Pro) c.6256G>C (p.Ala2086Pro) c.3520G>C (p.Ala1174Pro) c.2413G>C (p.Ala805Pro) c.6439G>C (p.Ala2147Pro) c.2191G>C (p.Ala731Pro) c.5419G>C (p.Ala1807Pro) | |
8 | g.99717275G>T | CA371867294 | VPS13B | c.6634G>T (p.Ala2212Ser) n.6704G>T c.*2316G>T (n.*2316G>T) c.6559G>T (p.Ala2187Ser) c.6631G>T (p.Ala2211Ser) c.6556G>T (p.Ala2186Ser) c.6256G>T (p.Ala2086Ser) c.3520G>T (p.Ala1174Ser) c.2413G>T (p.Ala805Ser) c.6439G>T (p.Ala2147Ser) c.2191G>T (p.Ala731Ser) c.5419G>T (p.Ala1807Ser) | |
8 | g.99717276C>A | CA371867297 | VPS13B | c.6635C>A (p.Ala2212Asp) n.6705C>A c.*2317C>A (n.*2317C>A) c.6560C>A (p.Ala2187Asp) c.6632C>A (p.Ala2211Asp) c.6557C>A (p.Ala2186Asp) c.6257C>A (p.Ala2086Asp) c.3521C>A (p.Ala1174Asp) c.2414C>A (p.Ala805Asp) c.6440C>A (p.Ala2147Asp) c.2192C>A (p.Ala731Asp) c.5420C>A (p.Ala1807Asp) | |
8 | g.99717276C>G | CA371867298 | VPS13B | c.6635C>G (p.Ala2212Gly) n.6705C>G c.*2317C>G (n.*2317C>G) c.6560C>G (p.Ala2187Gly) c.6632C>G (p.Ala2211Gly) c.6557C>G (p.Ala2186Gly) c.6257C>G (p.Ala2086Gly) c.3521C>G (p.Ala1174Gly) c.2414C>G (p.Ala805Gly) c.6440C>G (p.Ala2147Gly) c.2192C>G (p.Ala731Gly) c.5420C>G (p.Ala1807Gly) | |
8 | g.99717276C>T | CA371867299 | VPS13B | c.6635C>T (p.Ala2212Val) n.6705C>T c.*2317C>T (n.*2317C>T) c.6560C>T (p.Ala2187Val) c.6632C>T (p.Ala2211Val) c.6557C>T (p.Ala2186Val) c.6257C>T (p.Ala2086Val) c.3521C>T (p.Ala1174Val) c.2414C>T (p.Ala805Val) c.6440C>T (p.Ala2147Val) c.2192C>T (p.Ala731Val) c.5420C>T (p.Ala1807Val) | ClinVar COSMIC COSMIC |
8 | g.99717277C>A | CA462440265 | VPS13B | c.6636C>A (p.Ala2212=) n.6706C>A c.*2318C>A (n.*2318C>A) c.6561C>A (p.Ala2187=) c.6633C>A (p.Ala2211=) c.6558C>A (p.Ala2186=) c.6258C>A (p.Ala2086=) c.3522C>A (p.Ala1174=) c.2415C>A (p.Ala805=) c.6441C>A (p.Ala2147=) c.2193C>A (p.Ala731=) c.5421C>A (p.Ala1807=) | |
8 | g.99717277C>G | CA462440266 | VPS13B | c.6636C>G (p.Ala2212=) n.6706C>G c.*2318C>G (n.*2318C>G) c.6561C>G (p.Ala2187=) c.6633C>G (p.Ala2211=) c.6558C>G (p.Ala2186=) c.6258C>G (p.Ala2086=) c.3522C>G (p.Ala1174=) c.2415C>G (p.Ala805=) c.6441C>G (p.Ala2147=) c.2193C>G (p.Ala731=) c.5421C>G (p.Ala1807=) | |
8 | g.99717277C>T | CA462440267 | VPS13B | c.6636C>T (p.Ala2212=) n.6706C>T c.*2318C>T (n.*2318C>T) c.6561C>T (p.Ala2187=) c.6633C>T (p.Ala2211=) c.6558C>T (p.Ala2186=) c.6258C>T (p.Ala2086=) c.3522C>T (p.Ala1174=) c.2415C>T (p.Ala805=) c.6441C>T (p.Ala2147=) c.2193C>T (p.Ala731=) c.5421C>T (p.Ala1807=) | |
8 | g.99717278A>C | CA371867300 | VPS13B | c.6637A>C (p.Asn2213His) n.6707A>C c.*2319A>C (n.*2319A>C) c.6562A>C (p.Asn2188His) c.6634A>C (p.Asn2212His) c.6559A>C (p.Asn2187His) c.6259A>C (p.Asn2087His) c.3523A>C (p.Asn1175His) c.2416A>C (p.Asn806His) c.6442A>C (p.Asn2148His) c.2194A>C (p.Asn732His) c.5422A>C (p.Asn1808His) | |
8 | g.99717278A>G | CA371867301 | VPS13B | c.6637A>G (p.Asn2213Asp) n.6707A>G c.*2319A>G (n.*2319A>G) c.6562A>G (p.Asn2188Asp) c.6634A>G (p.Asn2212Asp) c.6559A>G (p.Asn2187Asp) c.6259A>G (p.Asn2087Asp) c.3523A>G (p.Asn1175Asp) c.2416A>G (p.Asn806Asp) c.6442A>G (p.Asn2148Asp) c.2194A>G (p.Asn732Asp) c.5422A>G (p.Asn1808Asp) | |
8 | g.99717278A>T | CA371867302 | VPS13B | c.6637A>T (p.Asn2213Tyr) n.6707A>T c.*2319A>T (n.*2319A>T) c.6562A>T (p.Asn2188Tyr) c.6634A>T (p.Asn2212Tyr) c.6559A>T (p.Asn2187Tyr) c.6259A>T (p.Asn2087Tyr) c.3523A>T (p.Asn1175Tyr) c.2416A>T (p.Asn806Tyr) c.6442A>T (p.Asn2148Tyr) c.2194A>T (p.Asn732Tyr) c.5422A>T (p.Asn1808Tyr) | |
8 | g.99717279del | CA2688067387 | VPS13B | c.6638del (p.Asn2213IlefsTer26) n.6708del c.*2320del (n.*2320del) c.6563del (p.Asn2188IlefsTer26) c.6635del (p.Asn2212IlefsTer26) c.6560del (p.Asn2187IlefsTer26) c.6260del (p.Asn2087IlefsTer26) c.3524del (p.Asn1175IlefsTer26) c.2417del (p.Asn806IlefsTer26) c.6443del (p.Asn2148IlefsTer26) c.2195del (p.Asn732IlefsTer26) c.5423del (p.Asn1808IlefsTer26) | gnomAD v4 |
8 | g.99717279A>C | CA371867303 | VPS13B | c.6638A>C (p.Asn2213Thr) n.6708A>C c.*2320A>C (n.*2320A>C) c.6563A>C (p.Asn2188Thr) c.6635A>C (p.Asn2212Thr) c.6560A>C (p.Asn2187Thr) c.6260A>C (p.Asn2087Thr) c.3524A>C (p.Asn1175Thr) c.2417A>C (p.Asn806Thr) c.6443A>C (p.Asn2148Thr) c.2195A>C (p.Asn732Thr) c.5423A>C (p.Asn1808Thr) | |
8 | g.99717279A>G | CA371867304 | VPS13B | c.6638A>G (p.Asn2213Ser) n.6708A>G c.*2320A>G (n.*2320A>G) c.6563A>G (p.Asn2188Ser) c.6635A>G (p.Asn2212Ser) c.6560A>G (p.Asn2187Ser) c.6260A>G (p.Asn2087Ser) c.3524A>G (p.Asn1175Ser) c.2417A>G (p.Asn806Ser) c.6443A>G (p.Asn2148Ser) c.2195A>G (p.Asn732Ser) c.5423A>G (p.Asn1808Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717279A>T | CA371867305 | VPS13B | c.6638A>T (p.Asn2213Ile) n.6708A>T c.*2320A>T (n.*2320A>T) c.6563A>T (p.Asn2188Ile) c.6635A>T (p.Asn2212Ile) c.6560A>T (p.Asn2187Ile) c.6260A>T (p.Asn2087Ile) c.3524A>T (p.Asn1175Ile) c.2417A>T (p.Asn806Ile) c.6443A>T (p.Asn2148Ile) c.2195A>T (p.Asn732Ile) c.5423A>T (p.Asn1808Ile) | |
8 | g.99717280T>A | CA371867306 | VPS13B | c.6639T>A (p.Asn2213Lys) n.6709T>A c.*2321T>A (n.*2321T>A) c.6564T>A (p.Asn2188Lys) c.6636T>A (p.Asn2212Lys) c.6561T>A (p.Asn2187Lys) c.6261T>A (p.Asn2087Lys) c.3525T>A (p.Asn1175Lys) c.2418T>A (p.Asn806Lys) c.6444T>A (p.Asn2148Lys) c.2196T>A (p.Asn732Lys) c.5424T>A (p.Asn1808Lys) | |
8 | g.99717280T>C | CA4824029 | VPS13B | c.6639T>C (p.Asn2213=) n.6709T>C c.*2321T>C (n.*2321T>C) c.6564T>C (p.Asn2188=) c.6636T>C (p.Asn2212=) c.6561T>C (p.Asn2187=) c.6261T>C (p.Asn2087=) c.3525T>C (p.Asn1175=) c.2418T>C (p.Asn806=) c.6444T>C (p.Asn2148=) c.2196T>C (p.Asn732=) c.5424T>C (p.Asn1808=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717280T>G | CA371867307 | VPS13B | c.6639T>G (p.Asn2213Lys) n.6709T>G c.*2321T>G (n.*2321T>G) c.6564T>G (p.Asn2188Lys) c.6636T>G (p.Asn2212Lys) c.6561T>G (p.Asn2187Lys) c.6261T>G (p.Asn2087Lys) c.3525T>G (p.Asn1175Lys) c.2418T>G (p.Asn806Lys) c.6444T>G (p.Asn2148Lys) c.2196T>G (p.Asn732Lys) c.5424T>G (p.Asn1808Lys) | |
8 | g.99717281C>A | CA371867308 | VPS13B | c.6640C>A (p.Leu2214Met) n.6710C>A c.*2322C>A (n.*2322C>A) c.6565C>A (p.Leu2189Met) c.6637C>A (p.Leu2213Met) c.6562C>A (p.Leu2188Met) c.6262C>A (p.Leu2088Met) c.3526C>A (p.Leu1176Met) c.2419C>A (p.Leu807Met) c.6445C>A (p.Leu2149Met) c.2197C>A (p.Leu733Met) c.5425C>A (p.Leu1809Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99717281C>G | CA371867309 | VPS13B | c.6640C>G (p.Leu2214Val) n.6710C>G c.*2322C>G (n.*2322C>G) c.6565C>G (p.Leu2189Val) c.6637C>G (p.Leu2213Val) c.6562C>G (p.Leu2188Val) c.6262C>G (p.Leu2088Val) c.3526C>G (p.Leu1176Val) c.2419C>G (p.Leu807Val) c.6445C>G (p.Leu2149Val) c.2197C>G (p.Leu733Val) c.5425C>G (p.Leu1809Val) | |
8 | g.99717281C>T | CA462440268 | VPS13B | c.6640C>T (p.Leu2214=) n.6710C>T c.*2322C>T (n.*2322C>T) c.6565C>T (p.Leu2189=) c.6637C>T (p.Leu2213=) c.6562C>T (p.Leu2188=) c.6262C>T (p.Leu2088=) c.3526C>T (p.Leu1176=) c.2419C>T (p.Leu807=) c.6445C>T (p.Leu2149=) c.2197C>T (p.Leu733=) c.5425C>T (p.Leu1809=) | ClinVar |
8 | g.99717282T>A | CA371867310 | VPS13B | c.6641T>A (p.Leu2214Gln) n.6711T>A c.*2323T>A (n.*2323T>A) c.6566T>A (p.Leu2189Gln) c.6638T>A (p.Leu2213Gln) c.6563T>A (p.Leu2188Gln) c.6263T>A (p.Leu2088Gln) c.3527T>A (p.Leu1176Gln) c.2420T>A (p.Leu807Gln) c.6446T>A (p.Leu2149Gln) c.2198T>A (p.Leu733Gln) c.5426T>A (p.Leu1809Gln) | |
8 | g.99717282T>C | CA371867311 | VPS13B | c.6641T>C (p.Leu2214Pro) n.6711T>C c.*2323T>C (n.*2323T>C) c.6566T>C (p.Leu2189Pro) c.6638T>C (p.Leu2213Pro) c.6563T>C (p.Leu2188Pro) c.6263T>C (p.Leu2088Pro) c.3527T>C (p.Leu1176Pro) c.2420T>C (p.Leu807Pro) c.6446T>C (p.Leu2149Pro) c.2198T>C (p.Leu733Pro) c.5426T>C (p.Leu1809Pro) | |
8 | g.99717282T>G | CA4824030 | VPS13B | c.6641T>G (p.Leu2214Arg) n.6711T>G c.*2323T>G (n.*2323T>G) c.6566T>G (p.Leu2189Arg) c.6638T>G (p.Leu2213Arg) c.6563T>G (p.Leu2188Arg) c.6263T>G (p.Leu2088Arg) c.3527T>G (p.Leu1176Arg) c.2420T>G (p.Leu807Arg) c.6446T>G (p.Leu2149Arg) c.2198T>G (p.Leu733Arg) c.5426T>G (p.Leu1809Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717283G>A | CA462440269 | VPS13B | c.6642G>A (p.Leu2214=) n.6712G>A c.*2324G>A (n.*2324G>A) c.6567G>A (p.Leu2189=) c.6639G>A (p.Leu2213=) c.6564G>A (p.Leu2188=) c.6264G>A (p.Leu2088=) c.3528G>A (p.Leu1176=) c.2421G>A (p.Leu807=) c.6447G>A (p.Leu2149=) c.2199G>A (p.Leu733=) c.5427G>A (p.Leu1809=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99717283G>C | CA462440270 | VPS13B | c.6642G>C (p.Leu2214=) n.6712G>C c.*2324G>C (n.*2324G>C) c.6567G>C (p.Leu2189=) c.6639G>C (p.Leu2213=) c.6564G>C (p.Leu2188=) c.6264G>C (p.Leu2088=) c.3528G>C (p.Leu1176=) c.2421G>C (p.Leu807=) c.6447G>C (p.Leu2149=) c.2199G>C (p.Leu733=) c.5427G>C (p.Leu1809=) | |
8 | g.99717283G>T | CA462440271 | VPS13B | c.6642G>T (p.Leu2214=) n.6712G>T c.*2324G>T (n.*2324G>T) c.6567G>T (p.Leu2189=) c.6639G>T (p.Leu2213=) c.6564G>T (p.Leu2188=) c.6264G>T (p.Leu2088=) c.3528G>T (p.Leu1176=) c.2421G>T (p.Leu807=) c.6447G>T (p.Leu2149=) c.2199G>T (p.Leu733=) c.5427G>T (p.Leu1809=) | |
8 | g.99717284G>A | CA371867312 | VPS13B | c.6643G>A (p.Glu2215Lys) n.6713G>A c.*2325G>A (n.*2325G>A) c.6568G>A (p.Glu2190Lys) c.6640G>A (p.Glu2214Lys) c.6565G>A (p.Glu2189Lys) c.6265G>A (p.Glu2089Lys) c.3529G>A (p.Glu1177Lys) c.2422G>A (p.Glu808Lys) c.6448G>A (p.Glu2150Lys) c.2200G>A (p.Glu734Lys) c.5428G>A (p.Glu1810Lys) | gnomAD v4 COSMIC COSMIC |
8 | g.99717284G>C | CA371867313 | VPS13B | c.6643G>C (p.Glu2215Gln) n.6713G>C c.*2325G>C (n.*2325G>C) c.6568G>C (p.Glu2190Gln) c.6640G>C (p.Glu2214Gln) c.6565G>C (p.Glu2189Gln) c.6265G>C (p.Glu2089Gln) c.3529G>C (p.Glu1177Gln) c.2422G>C (p.Glu808Gln) c.6448G>C (p.Glu2150Gln) c.2200G>C (p.Glu734Gln) c.5428G>C (p.Glu1810Gln) | |
8 | g.99717284G>T | CA371867314 | VPS13B | c.6643G>T (p.Glu2215Ter) n.6713G>T c.*2325G>T (n.*2325G>T) c.6568G>T (p.Glu2190Ter) c.6640G>T (p.Glu2214Ter) c.6565G>T (p.Glu2189Ter) c.6265G>T (p.Glu2089Ter) c.3529G>T (p.Glu1177Ter) c.2422G>T (p.Glu808Ter) c.6448G>T (p.Glu2150Ter) c.2200G>T (p.Glu734Ter) c.5428G>T (p.Glu1810Ter) | |
8 | g.99717285A>C | CA371867315 | VPS13B | c.6644A>C (p.Glu2215Ala) n.6714A>C c.*2326A>C (n.*2326A>C) c.6569A>C (p.Glu2190Ala) c.6641A>C (p.Glu2214Ala) c.6566A>C (p.Glu2189Ala) c.6266A>C (p.Glu2089Ala) c.3530A>C (p.Glu1177Ala) c.2423A>C (p.Glu808Ala) c.6449A>C (p.Glu2150Ala) c.2201A>C (p.Glu734Ala) c.5429A>C (p.Glu1810Ala) | |
8 | g.99717285A>G | CA371867316 | VPS13B | c.6644A>G (p.Glu2215Gly) n.6714A>G c.*2326A>G (n.*2326A>G) c.6569A>G (p.Glu2190Gly) c.6641A>G (p.Glu2214Gly) c.6566A>G (p.Glu2189Gly) c.6266A>G (p.Glu2089Gly) c.3530A>G (p.Glu1177Gly) c.2423A>G (p.Glu808Gly) c.6449A>G (p.Glu2150Gly) c.2201A>G (p.Glu734Gly) c.5429A>G (p.Glu1810Gly) | gnomAD v4 |
8 | g.99717285A>T | CA371867317 | VPS13B | c.6644A>T (p.Glu2215Val) n.6714A>T c.*2326A>T (n.*2326A>T) c.6569A>T (p.Glu2190Val) c.6641A>T (p.Glu2214Val) c.6566A>T (p.Glu2189Val) c.6266A>T (p.Glu2089Val) c.3530A>T (p.Glu1177Val) c.2423A>T (p.Glu808Val) c.6449A>T (p.Glu2150Val) c.2201A>T (p.Glu734Val) c.5429A>T (p.Glu1810Val) | |
8 | g.99717286A>C | CA371867319 | VPS13B | c.6645A>C (p.Glu2215Asp) n.6715A>C c.*2327A>C (n.*2327A>C) c.6570A>C (p.Glu2190Asp) c.6642A>C (p.Glu2214Asp) c.6567A>C (p.Glu2189Asp) c.6267A>C (p.Glu2089Asp) c.3531A>C (p.Glu1177Asp) c.2424A>C (p.Glu808Asp) c.6450A>C (p.Glu2150Asp) c.2202A>C (p.Glu734Asp) c.5430A>C (p.Glu1810Asp) | |
8 | g.99717286A>G | CA462440272 | VPS13B | c.6645A>G (p.Glu2215=) n.6715A>G c.*2327A>G (n.*2327A>G) c.6570A>G (p.Glu2190=) c.6642A>G (p.Glu2214=) c.6567A>G (p.Glu2189=) c.6267A>G (p.Glu2089=) c.3531A>G (p.Glu1177=) c.2424A>G (p.Glu808=) c.6450A>G (p.Glu2150=) c.2202A>G (p.Glu734=) c.5430A>G (p.Glu1810=) | ClinVar dbSNP |
8 | g.99717286A>T | CA371867318 | VPS13B | c.6645A>T (p.Glu2215Asp) n.6715A>T c.*2327A>T (n.*2327A>T) c.6570A>T (p.Glu2190Asp) c.6642A>T (p.Glu2214Asp) c.6567A>T (p.Glu2189Asp) c.6267A>T (p.Glu2089Asp) c.3531A>T (p.Glu1177Asp) c.2424A>T (p.Glu808Asp) c.6450A>T (p.Glu2150Asp) c.2202A>T (p.Glu734Asp) c.5430A>T (p.Glu1810Asp) |