UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99817559A>C | CA371772342 | VPS13B | c.8192A>C (p.Gln2731Pro) n.8262A>C c.*3874A>C (n.*3874A>C) c.8117A>C (p.Gln2706Pro) c.8189A>C (p.Gln2730Pro) c.8114A>C (p.Gln2705Pro) c.7814A>C (p.Gln2605Pro) c.5078A>C (p.Gln1693Pro) c.3971A>C (p.Gln1324Pro) c.7997A>C (p.Gln2666Pro) c.3749A>C (p.Gln1250Pro) c.6977A>C (p.Gln2326Pro) | |
| 8 | g.99817559A>G | CA371772343 | VPS13B | c.8192A>G (p.Gln2731Arg) n.8262A>G c.*3874A>G (n.*3874A>G) c.8117A>G (p.Gln2706Arg) c.8189A>G (p.Gln2730Arg) c.8114A>G (p.Gln2705Arg) c.7814A>G (p.Gln2605Arg) c.5078A>G (p.Gln1693Arg) c.3971A>G (p.Gln1324Arg) c.7997A>G (p.Gln2666Arg) c.3749A>G (p.Gln1250Arg) c.6977A>G (p.Gln2326Arg) | |
| 8 | g.99817559A>T | CA371772345 | VPS13B | c.8192A>T (p.Gln2731Leu) n.8262A>T c.*3874A>T (n.*3874A>T) c.8117A>T (p.Gln2706Leu) c.8189A>T (p.Gln2730Leu) c.8114A>T (p.Gln2705Leu) c.7814A>T (p.Gln2605Leu) c.5078A>T (p.Gln1693Leu) c.3971A>T (p.Gln1324Leu) c.7997A>T (p.Gln2666Leu) c.3749A>T (p.Gln1250Leu) c.6977A>T (p.Gln2326Leu) | |
| 8 | g.99817560G>A | CA4824395 | VPS13B | c.8193G>A (p.Gln2731=) n.8263G>A c.*3875G>A (n.*3875G>A) c.8118G>A (p.Gln2706=) c.8190G>A (p.Gln2730=) c.8115G>A (p.Gln2705=) c.7815G>A (p.Gln2605=) c.5079G>A (p.Gln1693=) c.3972G>A (p.Gln1324=) c.7998G>A (p.Gln2666=) c.3750G>A (p.Gln1250=) c.6978G>A (p.Gln2326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99817560G>C | CA371772349 | VPS13B | c.8193G>C (p.Gln2731His) n.8263G>C c.*3875G>C (n.*3875G>C) c.8118G>C (p.Gln2706His) c.8190G>C (p.Gln2730His) c.8115G>C (p.Gln2705His) c.7815G>C (p.Gln2605His) c.5079G>C (p.Gln1693His) c.3972G>C (p.Gln1324His) c.7998G>C (p.Gln2666His) c.3750G>C (p.Gln1250His) c.6978G>C (p.Gln2326His) | |
| 8 | g.99817560G>T | CA371772347 | VPS13B | c.8193G>T (p.Gln2731His) n.8263G>T c.*3875G>T (n.*3875G>T) c.8118G>T (p.Gln2706His) c.8190G>T (p.Gln2730His) c.8115G>T (p.Gln2705His) c.7815G>T (p.Gln2605His) c.5079G>T (p.Gln1693His) c.3972G>T (p.Gln1324His) c.7998G>T (p.Gln2666His) c.3750G>T (p.Gln1250His) c.6978G>T (p.Gln2326His) | |
| 8 | g.99817561A>C | CA371772352 | VPS13B | c.8194A>C (p.Ile2732Leu) n.8264A>C c.*3876A>C (n.*3876A>C) c.8119A>C (p.Ile2707Leu) c.8191A>C (p.Ile2731Leu) c.8116A>C (p.Ile2706Leu) c.7816A>C (p.Ile2606Leu) c.5080A>C (p.Ile1694Leu) c.3973A>C (p.Ile1325Leu) c.7999A>C (p.Ile2667Leu) c.3751A>C (p.Ile1251Leu) c.6979A>C (p.Ile2327Leu) | |
| 8 | g.99817561A>G | CA371772354 | VPS13B | c.8194A>G (p.Ile2732Val) n.8264A>G c.*3876A>G (n.*3876A>G) c.8119A>G (p.Ile2707Val) c.8191A>G (p.Ile2731Val) c.8116A>G (p.Ile2706Val) c.7816A>G (p.Ile2606Val) c.5080A>G (p.Ile1694Val) c.3973A>G (p.Ile1325Val) c.7999A>G (p.Ile2667Val) c.3751A>G (p.Ile1251Val) c.6979A>G (p.Ile2327Val) | |
| 8 | g.99817561A>T | CA371772356 | VPS13B | c.8194A>T (p.Ile2732Phe) n.8264A>T c.*3876A>T (n.*3876A>T) c.8119A>T (p.Ile2707Phe) c.8191A>T (p.Ile2731Phe) c.8116A>T (p.Ile2706Phe) c.7816A>T (p.Ile2606Phe) c.5080A>T (p.Ile1694Phe) c.3973A>T (p.Ile1325Phe) c.7999A>T (p.Ile2667Phe) c.3751A>T (p.Ile1251Phe) c.6979A>T (p.Ile2327Phe) | |
| 8 | g.99817562T>A | CA371772358 | VPS13B | c.8195T>A (p.Ile2732Asn) n.8265T>A c.*3877T>A (n.*3877T>A) c.8120T>A (p.Ile2707Asn) c.8192T>A (p.Ile2731Asn) c.8117T>A (p.Ile2706Asn) c.7817T>A (p.Ile2606Asn) c.5081T>A (p.Ile1694Asn) c.3974T>A (p.Ile1325Asn) c.8000T>A (p.Ile2667Asn) c.3752T>A (p.Ile1251Asn) c.6980T>A (p.Ile2327Asn) | |
| 8 | g.99817562T>C | CA371772361 | VPS13B | c.8195T>C (p.Ile2732Thr) n.8265T>C c.*3877T>C (n.*3877T>C) c.8120T>C (p.Ile2707Thr) c.8192T>C (p.Ile2731Thr) c.8117T>C (p.Ile2706Thr) c.7817T>C (p.Ile2606Thr) c.5081T>C (p.Ile1694Thr) c.3974T>C (p.Ile1325Thr) c.8000T>C (p.Ile2667Thr) c.3752T>C (p.Ile1251Thr) c.6980T>C (p.Ile2327Thr) | dbSNP gnomAD v4 |
| 8 | g.99817562T>G | CA371772363 | VPS13B | c.8195T>G (p.Ile2732Ser) n.8265T>G c.*3877T>G (n.*3877T>G) c.8120T>G (p.Ile2707Ser) c.8192T>G (p.Ile2731Ser) c.8117T>G (p.Ile2706Ser) c.7817T>G (p.Ile2606Ser) c.5081T>G (p.Ile1694Ser) c.3974T>G (p.Ile1325Ser) c.8000T>G (p.Ile2667Ser) c.3752T>G (p.Ile1251Ser) c.6980T>G (p.Ile2327Ser) | |
| 8 | g.99817563C>A | CA462457358 | VPS13B | c.8196C>A (p.Ile2732=) n.8266C>A c.*3878C>A (n.*3878C>A) c.8121C>A (p.Ile2707=) c.8193C>A (p.Ile2731=) c.8118C>A (p.Ile2706=) c.7818C>A (p.Ile2606=) c.5082C>A (p.Ile1694=) c.3975C>A (p.Ile1325=) c.8001C>A (p.Ile2667=) c.3753C>A (p.Ile1251=) c.6981C>A (p.Ile2327=) | |
| 8 | g.99817563C>G | CA371772364 | VPS13B | c.8196C>G (p.Ile2732Met) n.8266C>G c.*3878C>G (n.*3878C>G) c.8121C>G (p.Ile2707Met) c.8193C>G (p.Ile2731Met) c.8118C>G (p.Ile2706Met) c.7818C>G (p.Ile2606Met) c.5082C>G (p.Ile1694Met) c.3975C>G (p.Ile1325Met) c.8001C>G (p.Ile2667Met) c.3753C>G (p.Ile1251Met) c.6981C>G (p.Ile2327Met) | ClinVar |
| 8 | g.99817563C>T | CA462457361 | VPS13B | c.8196C>T (p.Ile2732=) n.8266C>T c.*3878C>T (n.*3878C>T) c.8121C>T (p.Ile2707=) c.8193C>T (p.Ile2731=) c.8118C>T (p.Ile2706=) c.7818C>T (p.Ile2606=) c.5082C>T (p.Ile1694=) c.3975C>T (p.Ile1325=) c.8001C>T (p.Ile2667=) c.3753C>T (p.Ile1251=) c.6981C>T (p.Ile2327=) | COSMIC COSMIC |
| 8 | g.99817564A>C | CA371772365 | VPS13B | c.8197A>C (p.Ile2733Leu) n.8267A>C c.*3879A>C (n.*3879A>C) c.8122A>C (p.Ile2708Leu) c.8194A>C (p.Ile2732Leu) c.8119A>C (p.Ile2707Leu) c.7819A>C (p.Ile2607Leu) c.5083A>C (p.Ile1695Leu) c.3976A>C (p.Ile1326Leu) c.8002A>C (p.Ile2668Leu) c.3754A>C (p.Ile1252Leu) c.6982A>C (p.Ile2328Leu) | |
| 8 | g.99817564A>G | CA371772369 | VPS13B | c.8197A>G (p.Ile2733Val) n.8267A>G c.*3879A>G (n.*3879A>G) c.8122A>G (p.Ile2708Val) c.8194A>G (p.Ile2732Val) c.8119A>G (p.Ile2707Val) c.7819A>G (p.Ile2607Val) c.5083A>G (p.Ile1695Val) c.3976A>G (p.Ile1326Val) c.8002A>G (p.Ile2668Val) c.3754A>G (p.Ile1252Val) c.6982A>G (p.Ile2328Val) | |
| 8 | g.99817564A>T | CA371772367 | VPS13B | c.8197A>T (p.Ile2733Phe) n.8267A>T c.*3879A>T (n.*3879A>T) c.8122A>T (p.Ile2708Phe) c.8194A>T (p.Ile2732Phe) c.8119A>T (p.Ile2707Phe) c.7819A>T (p.Ile2607Phe) c.5083A>T (p.Ile1695Phe) c.3976A>T (p.Ile1326Phe) c.8002A>T (p.Ile2668Phe) c.3754A>T (p.Ile1252Phe) c.6982A>T (p.Ile2328Phe) | |
| 8 | g.99817565T>A | CA371772371 | VPS13B | c.8198T>A (p.Ile2733Asn) n.8268T>A c.*3880T>A (n.*3880T>A) c.8123T>A (p.Ile2708Asn) c.8195T>A (p.Ile2732Asn) c.8120T>A (p.Ile2707Asn) c.7820T>A (p.Ile2607Asn) c.5084T>A (p.Ile1695Asn) c.3977T>A (p.Ile1326Asn) c.8003T>A (p.Ile2668Asn) c.3755T>A (p.Ile1252Asn) c.6983T>A (p.Ile2328Asn) | |
| 8 | g.99817565T>C | CA371772373 | VPS13B | c.8198T>C (p.Ile2733Thr) n.8268T>C c.*3880T>C (n.*3880T>C) c.8123T>C (p.Ile2708Thr) c.8195T>C (p.Ile2732Thr) c.8120T>C (p.Ile2707Thr) c.7820T>C (p.Ile2607Thr) c.5084T>C (p.Ile1695Thr) c.3977T>C (p.Ile1326Thr) c.8003T>C (p.Ile2668Thr) c.3755T>C (p.Ile1252Thr) c.6983T>C (p.Ile2328Thr) | |
| 8 | g.99817565T>G | CA371772375 | VPS13B | c.8198T>G (p.Ile2733Ser) n.8268T>G c.*3880T>G (n.*3880T>G) c.8123T>G (p.Ile2708Ser) c.8195T>G (p.Ile2732Ser) c.8120T>G (p.Ile2707Ser) c.7820T>G (p.Ile2607Ser) c.5084T>G (p.Ile1695Ser) c.3977T>G (p.Ile1326Ser) c.8003T>G (p.Ile2668Ser) c.3755T>G (p.Ile1252Ser) c.6983T>G (p.Ile2328Ser) | |
| 8 | g.99817566C>A | CA462457365 | VPS13B | c.8199C>A (p.Ile2733=) n.8269C>A c.*3881C>A (n.*3881C>A) c.8124C>A (p.Ile2708=) c.8196C>A (p.Ile2732=) c.8121C>A (p.Ile2707=) c.7821C>A (p.Ile2607=) c.5085C>A (p.Ile1695=) c.3978C>A (p.Ile1326=) c.8004C>A (p.Ile2668=) c.3756C>A (p.Ile1252=) c.6984C>A (p.Ile2328=) | |
| 8 | g.99817566C>G | CA371772377 | VPS13B | c.8199C>G (p.Ile2733Met) n.8269C>G c.*3881C>G (n.*3881C>G) c.8124C>G (p.Ile2708Met) c.8196C>G (p.Ile2732Met) c.8121C>G (p.Ile2707Met) c.7821C>G (p.Ile2607Met) c.5085C>G (p.Ile1695Met) c.3978C>G (p.Ile1326Met) c.8004C>G (p.Ile2668Met) c.3756C>G (p.Ile1252Met) c.6984C>G (p.Ile2328Met) | gnomAD v4 |
| 8 | g.99817566C>T | CA462457368 | VPS13B | c.8199C>T (p.Ile2733=) n.8269C>T c.*3881C>T (n.*3881C>T) c.8124C>T (p.Ile2708=) c.8196C>T (p.Ile2732=) c.8121C>T (p.Ile2707=) c.7821C>T (p.Ile2607=) c.5085C>T (p.Ile1695=) c.3978C>T (p.Ile1326=) c.8004C>T (p.Ile2668=) c.3756C>T (p.Ile1252=) c.6984C>T (p.Ile2328=) | |
| 8 | g.99817567T>A | CA371772382 | VPS13B | c.8200T>A (p.Cys2734Ser) n.8270T>A c.*3882T>A (n.*3882T>A) c.8125T>A (p.Cys2709Ser) c.8197T>A (p.Cys2733Ser) c.8122T>A (p.Cys2708Ser) c.7822T>A (p.Cys2608Ser) c.5086T>A (p.Cys1696Ser) c.3979T>A (p.Cys1327Ser) c.8005T>A (p.Cys2669Ser) c.3757T>A (p.Cys1253Ser) c.6985T>A (p.Cys2329Ser) | |
| 8 | g.99817567T>C | CA371772379 | VPS13B | c.8200T>C (p.Cys2734Arg) n.8270T>C c.*3882T>C (n.*3882T>C) c.8125T>C (p.Cys2709Arg) c.8197T>C (p.Cys2733Arg) c.8122T>C (p.Cys2708Arg) c.7822T>C (p.Cys2608Arg) c.5086T>C (p.Cys1696Arg) c.3979T>C (p.Cys1327Arg) c.8005T>C (p.Cys2669Arg) c.3757T>C (p.Cys1253Arg) c.6985T>C (p.Cys2329Arg) | |
| 8 | g.99817567T>G | CA371772381 | VPS13B | c.8200T>G (p.Cys2734Gly) n.8270T>G c.*3882T>G (n.*3882T>G) c.8125T>G (p.Cys2709Gly) c.8197T>G (p.Cys2733Gly) c.8122T>G (p.Cys2708Gly) c.7822T>G (p.Cys2608Gly) c.5086T>G (p.Cys1696Gly) c.3979T>G (p.Cys1327Gly) c.8005T>G (p.Cys2669Gly) c.3757T>G (p.Cys1253Gly) c.6985T>G (p.Cys2329Gly) | |
| 8 | g.99817568G>A | CA371772385 | VPS13B | c.8201G>A (p.Cys2734Tyr) n.8271G>A c.*3883G>A (n.*3883G>A) c.8126G>A (p.Cys2709Tyr) c.8198G>A (p.Cys2733Tyr) c.8123G>A (p.Cys2708Tyr) c.7823G>A (p.Cys2608Tyr) c.5087G>A (p.Cys1696Tyr) c.3980G>A (p.Cys1327Tyr) c.8006G>A (p.Cys2669Tyr) c.3758G>A (p.Cys1253Tyr) c.6986G>A (p.Cys2329Tyr) | ClinVar gnomAD v4 |
| 8 | g.99817568G>C | CA371772386 | VPS13B | c.8201G>C (p.Cys2734Ser) n.8271G>C c.*3883G>C (n.*3883G>C) c.8126G>C (p.Cys2709Ser) c.8198G>C (p.Cys2733Ser) c.8123G>C (p.Cys2708Ser) c.7823G>C (p.Cys2608Ser) c.5087G>C (p.Cys1696Ser) c.3980G>C (p.Cys1327Ser) c.8006G>C (p.Cys2669Ser) c.3758G>C (p.Cys1253Ser) c.6986G>C (p.Cys2329Ser) | |
| 8 | g.99817568G>T | CA371772388 | VPS13B | c.8201G>T (p.Cys2734Phe) n.8271G>T c.*3883G>T (n.*3883G>T) c.8126G>T (p.Cys2709Phe) c.8198G>T (p.Cys2733Phe) c.8123G>T (p.Cys2708Phe) c.7823G>T (p.Cys2608Phe) c.5087G>T (p.Cys1696Phe) c.3980G>T (p.Cys1327Phe) c.8006G>T (p.Cys2669Phe) c.3758G>T (p.Cys1253Phe) c.6986G>T (p.Cys2329Phe) | |
| 8 | g.99817569T>A | CA371772390 | VPS13B | c.8202T>A (p.Cys2734Ter) n.8272T>A c.*3884T>A (n.*3884T>A) c.8127T>A (p.Cys2709Ter) c.8199T>A (p.Cys2733Ter) c.8124T>A (p.Cys2708Ter) c.7824T>A (p.Cys2608Ter) c.5088T>A (p.Cys1696Ter) c.3981T>A (p.Cys1327Ter) c.8007T>A (p.Cys2669Ter) c.3759T>A (p.Cys1253Ter) c.6987T>A (p.Cys2329Ter) | |
| 8 | g.99817569T>C | CA182327189 | VPS13B | c.8202T>C (p.Cys2734=) n.8272T>C c.*3884T>C (n.*3884T>C) c.8127T>C (p.Cys2709=) c.8199T>C (p.Cys2733=) c.8124T>C (p.Cys2708=) c.7824T>C (p.Cys2608=) c.5088T>C (p.Cys1696=) c.3981T>C (p.Cys1327=) c.8007T>C (p.Cys2669=) c.3759T>C (p.Cys1253=) c.6987T>C (p.Cys2329=) | dbSNP |
| 8 | g.99817569T>G | CA371772391 | VPS13B | c.8202T>G (p.Cys2734Trp) n.8272T>G c.*3884T>G (n.*3884T>G) c.8127T>G (p.Cys2709Trp) c.8199T>G (p.Cys2733Trp) c.8124T>G (p.Cys2708Trp) c.7824T>G (p.Cys2608Trp) c.5088T>G (p.Cys1696Trp) c.3981T>G (p.Cys1327Trp) c.8007T>G (p.Cys2669Trp) c.3759T>G (p.Cys1253Trp) c.6987T>G (p.Cys2329Trp) | |
| 8 | g.99817570A>C | CA371772393 | VPS13B | c.8203A>C (p.Ser2735Arg) n.8273A>C c.*3885A>C (n.*3885A>C) c.8128A>C (p.Ser2710Arg) c.8200A>C (p.Ser2734Arg) c.8125A>C (p.Ser2709Arg) c.7825A>C (p.Ser2609Arg) c.5089A>C (p.Ser1697Arg) c.3982A>C (p.Ser1328Arg) c.8008A>C (p.Ser2670Arg) c.3760A>C (p.Ser1254Arg) c.6988A>C (p.Ser2330Arg) | |
| 8 | g.99817570A>G | CA371772395 | VPS13B | c.8203A>G (p.Ser2735Gly) n.8273A>G c.*3885A>G (n.*3885A>G) c.8128A>G (p.Ser2710Gly) c.8200A>G (p.Ser2734Gly) c.8125A>G (p.Ser2709Gly) c.7825A>G (p.Ser2609Gly) c.5089A>G (p.Ser1697Gly) c.3982A>G (p.Ser1328Gly) c.8008A>G (p.Ser2670Gly) c.3760A>G (p.Ser1254Gly) c.6988A>G (p.Ser2330Gly) | |
| 8 | g.99817570A>T | CA371772397 | VPS13B | c.8203A>T (p.Ser2735Cys) n.8273A>T c.*3885A>T (n.*3885A>T) c.8128A>T (p.Ser2710Cys) c.8200A>T (p.Ser2734Cys) c.8125A>T (p.Ser2709Cys) c.7825A>T (p.Ser2609Cys) c.5089A>T (p.Ser1697Cys) c.3982A>T (p.Ser1328Cys) c.8008A>T (p.Ser2670Cys) c.3760A>T (p.Ser1254Cys) c.6988A>T (p.Ser2330Cys) | |
| 8 | g.99817571G>A | CA371772399 | VPS13B | c.8204G>A (p.Ser2735Asn) n.8274G>A c.*3886G>A (n.*3886G>A) c.8129G>A (p.Ser2710Asn) c.8201G>A (p.Ser2734Asn) c.8126G>A (p.Ser2709Asn) c.7826G>A (p.Ser2609Asn) c.5090G>A (p.Ser1697Asn) c.3983G>A (p.Ser1328Asn) c.8009G>A (p.Ser2670Asn) c.3761G>A (p.Ser1254Asn) c.6989G>A (p.Ser2330Asn) | |
| 8 | g.99817571G>C | CA371772400 | VPS13B | c.8204G>C (p.Ser2735Thr) n.8274G>C c.*3886G>C (n.*3886G>C) c.8129G>C (p.Ser2710Thr) c.8201G>C (p.Ser2734Thr) c.8126G>C (p.Ser2709Thr) c.7826G>C (p.Ser2609Thr) c.5090G>C (p.Ser1697Thr) c.3983G>C (p.Ser1328Thr) c.8009G>C (p.Ser2670Thr) c.3761G>C (p.Ser1254Thr) c.6989G>C (p.Ser2330Thr) | |
| 8 | g.99817571G>T | CA371772402 | VPS13B | c.8204G>T (p.Ser2735Ile) n.8274G>T c.*3886G>T (n.*3886G>T) c.8129G>T (p.Ser2710Ile) c.8201G>T (p.Ser2734Ile) c.8126G>T (p.Ser2709Ile) c.7826G>T (p.Ser2609Ile) c.5090G>T (p.Ser1697Ile) c.3983G>T (p.Ser1328Ile) c.8009G>T (p.Ser2670Ile) c.3761G>T (p.Ser1254Ile) c.6989G>T (p.Ser2330Ile) | |
| 8 | g.99817572T>A | CA371772404 | VPS13B | c.8205T>A (p.Ser2735Arg) n.8275T>A c.*3887T>A (n.*3887T>A) c.8130T>A (p.Ser2710Arg) c.8202T>A (p.Ser2734Arg) c.8127T>A (p.Ser2709Arg) c.7827T>A (p.Ser2609Arg) c.5091T>A (p.Ser1697Arg) c.3984T>A (p.Ser1328Arg) c.8010T>A (p.Ser2670Arg) c.3762T>A (p.Ser1254Arg) c.6990T>A (p.Ser2330Arg) | |
| 8 | g.99817572T>C | CA462457378 | VPS13B | c.8205T>C (p.Ser2735=) n.8275T>C c.*3887T>C (n.*3887T>C) c.8130T>C (p.Ser2710=) c.8202T>C (p.Ser2734=) c.8127T>C (p.Ser2709=) c.7827T>C (p.Ser2609=) c.5091T>C (p.Ser1697=) c.3984T>C (p.Ser1328=) c.8010T>C (p.Ser2670=) c.3762T>C (p.Ser1254=) c.6990T>C (p.Ser2330=) | |
| 8 | g.99817572T>G | CA371772405 | VPS13B | c.8205T>G (p.Ser2735Arg) n.8275T>G c.*3887T>G (n.*3887T>G) c.8130T>G (p.Ser2710Arg) c.8202T>G (p.Ser2734Arg) c.8127T>G (p.Ser2709Arg) c.7827T>G (p.Ser2609Arg) c.5091T>G (p.Ser1697Arg) c.3984T>G (p.Ser1328Arg) c.8010T>G (p.Ser2670Arg) c.3762T>G (p.Ser1254Arg) c.6990T>G (p.Ser2330Arg) | |
| 8 | g.99817573T>A | CA371772407 | VPS13B | c.8206T>A (p.Tyr2736Asn) n.8276T>A c.*3888T>A (n.*3888T>A) c.8131T>A (p.Tyr2711Asn) c.8203T>A (p.Tyr2735Asn) c.8128T>A (p.Tyr2710Asn) c.7828T>A (p.Tyr2610Asn) c.5092T>A (p.Tyr1698Asn) c.3985T>A (p.Tyr1329Asn) c.8011T>A (p.Tyr2671Asn) c.3763T>A (p.Tyr1255Asn) c.6991T>A (p.Tyr2331Asn) | |
| 8 | g.99817573T>C | CA371772409 | VPS13B | c.8206T>C (p.Tyr2736His) n.8276T>C c.*3888T>C (n.*3888T>C) c.8131T>C (p.Tyr2711His) c.8203T>C (p.Tyr2735His) c.8128T>C (p.Tyr2710His) c.7828T>C (p.Tyr2610His) c.5092T>C (p.Tyr1698His) c.3985T>C (p.Tyr1329His) c.8011T>C (p.Tyr2671His) c.3763T>C (p.Tyr1255His) c.6991T>C (p.Tyr2331His) | |
| 8 | g.99817573T>G | CA371772408 | VPS13B | c.8206T>G (p.Tyr2736Asp) n.8276T>G c.*3888T>G (n.*3888T>G) c.8131T>G (p.Tyr2711Asp) c.8203T>G (p.Tyr2735Asp) c.8128T>G (p.Tyr2710Asp) c.7828T>G (p.Tyr2610Asp) c.5092T>G (p.Tyr1698Asp) c.3985T>G (p.Tyr1329Asp) c.8011T>G (p.Tyr2671Asp) c.3763T>G (p.Tyr1255Asp) c.6991T>G (p.Tyr2331Asp) | |
| 8 | g.99817574A>C | CA371772411 | VPS13B | c.8207A>C (p.Tyr2736Ser) n.8277A>C c.*3889A>C (n.*3889A>C) c.8132A>C (p.Tyr2711Ser) c.8204A>C (p.Tyr2735Ser) c.8129A>C (p.Tyr2710Ser) c.7829A>C (p.Tyr2610Ser) c.5093A>C (p.Tyr1698Ser) c.3986A>C (p.Tyr1329Ser) c.8012A>C (p.Tyr2671Ser) c.3764A>C (p.Tyr1255Ser) c.6992A>C (p.Tyr2331Ser) | |
| 8 | g.99817574A>G | CA371772413 | VPS13B | c.8207A>G (p.Tyr2736Cys) n.8277A>G c.*3889A>G (n.*3889A>G) c.8132A>G (p.Tyr2711Cys) c.8204A>G (p.Tyr2735Cys) c.8129A>G (p.Tyr2710Cys) c.7829A>G (p.Tyr2610Cys) c.5093A>G (p.Tyr1698Cys) c.3986A>G (p.Tyr1329Cys) c.8012A>G (p.Tyr2671Cys) c.3764A>G (p.Tyr1255Cys) c.6992A>G (p.Tyr2331Cys) | |
| 8 | g.99817574A>T | CA371772415 | VPS13B | c.8207A>T (p.Tyr2736Phe) n.8277A>T c.*3889A>T (n.*3889A>T) c.8132A>T (p.Tyr2711Phe) c.8204A>T (p.Tyr2735Phe) c.8129A>T (p.Tyr2710Phe) c.7829A>T (p.Tyr2610Phe) c.5093A>T (p.Tyr1698Phe) c.3986A>T (p.Tyr1329Phe) c.8012A>T (p.Tyr2671Phe) c.3764A>T (p.Tyr1255Phe) c.6992A>T (p.Tyr2331Phe) | |
| 8 | g.99817575C>A | CA371772417 | VPS13B | c.8208C>A (p.Tyr2736Ter) n.8278C>A c.*3890C>A (n.*3890C>A) c.8133C>A (p.Tyr2711Ter) c.8205C>A (p.Tyr2735Ter) c.8130C>A (p.Tyr2710Ter) c.7830C>A (p.Tyr2610Ter) c.5094C>A (p.Tyr1698Ter) c.3987C>A (p.Tyr1329Ter) c.8013C>A (p.Tyr2671Ter) c.3765C>A (p.Tyr1255Ter) c.6993C>A (p.Tyr2331Ter) | |
| 8 | g.99817575C>G | CA371772418 | VPS13B | c.8208C>G (p.Tyr2736Ter) n.8278C>G c.*3890C>G (n.*3890C>G) c.8133C>G (p.Tyr2711Ter) c.8205C>G (p.Tyr2735Ter) c.8130C>G (p.Tyr2710Ter) c.7830C>G (p.Tyr2610Ter) c.5094C>G (p.Tyr1698Ter) c.3987C>G (p.Tyr1329Ter) c.8013C>G (p.Tyr2671Ter) c.3765C>G (p.Tyr1255Ter) c.6993C>G (p.Tyr2331Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |