Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99868343A>C | CA371791924 | VPS13B | c.*439A>C (n.*439A>C) n.11415A>C c.*7027A>C (n.*7027A>C) c.11270A>C (p.Glu3757Ala) c.11345A>C (p.Glu3782Ala) n.287A>C c.11342A>C (p.Glu3781Ala) c.11267A>C (p.Glu3756Ala) c.10967A>C (p.Glu3656Ala) c.8231A>C (p.Glu2744Ala) c.7124A>C (p.Glu2375Ala) c.11150A>C (p.Glu3717Ala) c.6902A>C (p.Glu2301Ala) c.10130A>C (p.Glu3377Ala) | |
8 | g.99868343A>G | CA371791920 | VPS13B | c.*439A>G (n.*439A>G) n.11415A>G c.*7027A>G (n.*7027A>G) c.11270A>G (p.Glu3757Gly) c.11345A>G (p.Glu3782Gly) n.287A>G c.11342A>G (p.Glu3781Gly) c.11267A>G (p.Glu3756Gly) c.10967A>G (p.Glu3656Gly) c.8231A>G (p.Glu2744Gly) c.7124A>G (p.Glu2375Gly) c.11150A>G (p.Glu3717Gly) c.6902A>G (p.Glu2301Gly) c.10130A>G (p.Glu3377Gly) | |
8 | g.99868343A>T | CA371791922 | VPS13B | c.*439A>T (n.*439A>T) n.11415A>T c.*7027A>T (n.*7027A>T) c.11270A>T (p.Glu3757Val) c.11345A>T (p.Glu3782Val) n.287A>T c.11342A>T (p.Glu3781Val) c.11267A>T (p.Glu3756Val) c.10967A>T (p.Glu3656Val) c.8231A>T (p.Glu2744Val) c.7124A>T (p.Glu2375Val) c.11150A>T (p.Glu3717Val) c.6902A>T (p.Glu2301Val) c.10130A>T (p.Glu3377Val) | |
8 | g.99868344G>A | CA462339197 | VPS13B | c.*440G>A (n.*440G>A) n.11416G>A c.*7028G>A (n.*7028G>A) c.11271G>A (p.Glu3757=) c.11346G>A (p.Glu3782=) n.288G>A c.11343G>A (p.Glu3781=) c.11268G>A (p.Glu3756=) c.10968G>A (p.Glu3656=) c.8232G>A (p.Glu2744=) c.7125G>A (p.Glu2375=) c.11151G>A (p.Glu3717=) c.6903G>A (p.Glu2301=) c.10131G>A (p.Glu3377=) | |
8 | g.99868344G>C | CA371791926 | VPS13B | c.*440G>C (n.*440G>C) n.11416G>C c.*7028G>C (n.*7028G>C) c.11271G>C (p.Glu3757Asp) c.11346G>C (p.Glu3782Asp) n.288G>C c.11343G>C (p.Glu3781Asp) c.11268G>C (p.Glu3756Asp) c.10968G>C (p.Glu3656Asp) c.8232G>C (p.Glu2744Asp) c.7125G>C (p.Glu2375Asp) c.11151G>C (p.Glu3717Asp) c.6903G>C (p.Glu2301Asp) c.10131G>C (p.Glu3377Asp) | |
8 | g.99868344G>T | CA371791928 | VPS13B | c.*440G>T (n.*440G>T) n.11416G>T c.*7028G>T (n.*7028G>T) c.11271G>T (p.Glu3757Asp) c.11346G>T (p.Glu3782Asp) n.288G>T c.11343G>T (p.Glu3781Asp) c.11268G>T (p.Glu3756Asp) c.10968G>T (p.Glu3656Asp) c.8232G>T (p.Glu2744Asp) c.7125G>T (p.Glu2375Asp) c.11151G>T (p.Glu3717Asp) c.6903G>T (p.Glu2301Asp) c.10131G>T (p.Glu3377Asp) | |
8 | g.99868345del | CA4825197 | VPS13B | c.*441del (n.*441del) n.11417del c.*7029del (n.*7029del) c.11272del (p.Ala3758HisfsTer?) c.11347del (p.Ala3783HisfsTer?) n.289del c.11344del (p.Ala3782HisfsTer?) c.11269del (p.Ala3757HisfsTer?) c.10969del (p.Ala3657HisfsTer?) c.8233del (p.Ala2745HisfsTer?) c.7126del (p.Ala2376HisfsTer?) c.11152del (p.Ala3718HisfsTer?) c.6904del (p.Ala2302HisfsTer?) c.10132del (p.Ala3378HisfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868345G>A | CA4825198 | VPS13B | c.*441G>A (n.*441G>A) n.11417G>A c.*7029G>A (n.*7029G>A) c.11272G>A (p.Ala3758Thr) c.11347G>A (p.Ala3783Thr) n.289G>A c.11344G>A (p.Ala3782Thr) c.11269G>A (p.Ala3757Thr) c.10969G>A (p.Ala3657Thr) c.8233G>A (p.Ala2745Thr) c.7126G>A (p.Ala2376Thr) c.11152G>A (p.Ala3718Thr) c.6904G>A (p.Ala2302Thr) c.10132G>A (p.Ala3378Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868345G>C | CA371791931 | VPS13B | c.*441G>C (n.*441G>C) n.11417G>C c.*7029G>C (n.*7029G>C) c.11272G>C (p.Ala3758Pro) c.11347G>C (p.Ala3783Pro) n.289G>C c.11344G>C (p.Ala3782Pro) c.11269G>C (p.Ala3757Pro) c.10969G>C (p.Ala3657Pro) c.8233G>C (p.Ala2745Pro) c.7126G>C (p.Ala2376Pro) c.11152G>C (p.Ala3718Pro) c.6904G>C (p.Ala2302Pro) c.10132G>C (p.Ala3378Pro) | |
8 | g.99868345G>T | CA371791933 | VPS13B | c.*441G>T (n.*441G>T) n.11417G>T c.*7029G>T (n.*7029G>T) c.11272G>T (p.Ala3758Ser) c.11347G>T (p.Ala3783Ser) n.289G>T c.11344G>T (p.Ala3782Ser) c.11269G>T (p.Ala3757Ser) c.10969G>T (p.Ala3657Ser) c.8233G>T (p.Ala2745Ser) c.7126G>T (p.Ala2376Ser) c.11152G>T (p.Ala3718Ser) c.6904G>T (p.Ala2302Ser) c.10132G>T (p.Ala3378Ser) | |
8 | g.99868346C>A | CA371791935 | VPS13B | c.*442C>A (n.*442C>A) n.11418C>A c.*7030C>A (n.*7030C>A) c.11273C>A (p.Ala3758Glu) c.11348C>A (p.Ala3783Glu) n.290C>A c.11345C>A (p.Ala3782Glu) c.11270C>A (p.Ala3757Glu) c.10970C>A (p.Ala3657Glu) c.8234C>A (p.Ala2745Glu) c.7127C>A (p.Ala2376Glu) c.11153C>A (p.Ala3718Glu) c.6905C>A (p.Ala2302Glu) c.10133C>A (p.Ala3378Glu) | gnomAD v4 |
8 | g.99868346C>G | CA371791936 | VPS13B | c.*442C>G (n.*442C>G) n.11418C>G c.*7030C>G (n.*7030C>G) c.11273C>G (p.Ala3758Gly) c.11348C>G (p.Ala3783Gly) n.290C>G c.11345C>G (p.Ala3782Gly) c.11270C>G (p.Ala3757Gly) c.10970C>G (p.Ala3657Gly) c.8234C>G (p.Ala2745Gly) c.7127C>G (p.Ala2376Gly) c.11153C>G (p.Ala3718Gly) c.6905C>G (p.Ala2302Gly) c.10133C>G (p.Ala3378Gly) | |
8 | g.99868346C>T | CA4825199 | VPS13B | c.*442C>T (n.*442C>T) n.11418C>T c.*7030C>T (n.*7030C>T) c.11273C>T (p.Ala3758Val) c.11348C>T (p.Ala3783Val) n.290C>T c.11345C>T (p.Ala3782Val) c.11270C>T (p.Ala3757Val) c.10970C>T (p.Ala3657Val) c.8234C>T (p.Ala2745Val) c.7127C>T (p.Ala2376Val) c.11153C>T (p.Ala3718Val) c.6905C>T (p.Ala2302Val) c.10133C>T (p.Ala3378Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868348_99868349del | CA2688072712 | VPS13B | c.*444_*445del (n.*444_*445del) n.11420_11421del c.*7032_*7033del (n.*7032_*7033del) c.11275_11276del (p.Gln3759GlyfsTer?) c.11350_11351del (p.Gln3784GlyfsTer?) n.292_293del c.11347_11348del (p.Gln3783GlyfsTer?) c.11272_11273del (p.Gln3758GlyfsTer?) c.10972_10973del (p.Gln3658GlyfsTer?) c.8236_8237del (p.Gln2746GlyfsTer?) c.7129_7130del (p.Gln2377GlyfsTer?) c.11155_11156del (p.Gln3719GlyfsTer?) c.6907_6908del (p.Gln2303GlyfsTer?) c.10135_10136del (p.Gln3379GlyfsTer?) | gnomAD v4 |
8 | g.99868346_99868347insTTCCAGAAA | CA4825200 | VPS13B | c.*442_*443insTTCCAGAAA (n.*442_*443insTTCCAGAAA) n.11418_11419insTTCCAGAAA c.*7030_*7031insTTCCAGAAA (n.*7030_*7031insTTCCAGAAA) c.11273_11274insTTCCAGAAA (p.Ala3758_Gln3759insSerArgLys) c.11348_11349insTTCCAGAAA (p.Ala3783_Gln3784insSerArgLys) n.290_291insTTCCAGAAA c.11345_11346insTTCCAGAAA (p.Ala3782_Gln3783insSerArgLys) c.11270_11271insTTCCAGAAA (p.Ala3757_Gln3758insSerArgLys) c.10970_10971insTTCCAGAAA (p.Ala3657_Gln3658insSerArgLys) c.8234_8235insTTCCAGAAA (p.Ala2745_Gln2746insSerArgLys) c.7127_7128insTTCCAGAAA (p.Ala2376_Gln2377insSerArgLys) c.11153_11154insTTCCAGAAA (p.Ala3718_Gln3719insSerArgLys) c.6905_6906insTTCCAGAAA (p.Ala2302_Gln2303insSerArgLys) c.10133_10134insTTCCAGAAA (p.Ala3378_Gln3379insSerArgLys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868347A>C | CA462339206 | VPS13B | c.*443A>C (n.*443A>C) n.11419A>C c.*7031A>C (n.*7031A>C) c.11274A>C (p.Ala3758=) c.11349A>C (p.Ala3783=) n.291A>C c.11346A>C (p.Ala3782=) c.11271A>C (p.Ala3757=) c.10971A>C (p.Ala3657=) c.8235A>C (p.Ala2745=) c.7128A>C (p.Ala2376=) c.11154A>C (p.Ala3718=) c.6906A>C (p.Ala2302=) c.10134A>C (p.Ala3378=) | |
8 | g.99868347A>G | CA4825201 | VPS13B | c.*443A>G (n.*443A>G) n.11419A>G c.*7031A>G (n.*7031A>G) c.11274A>G (p.Ala3758=) c.11349A>G (p.Ala3783=) n.291A>G c.11346A>G (p.Ala3782=) c.11271A>G (p.Ala3757=) c.10971A>G (p.Ala3657=) c.8235A>G (p.Ala2745=) c.7128A>G (p.Ala2376=) c.11154A>G (p.Ala3718=) c.6906A>G (p.Ala2302=) c.10134A>G (p.Ala3378=) | dbSNP ExAC gnomAD v2 |
8 | g.99868347A>T | CA462339207 | VPS13B | c.*443A>T (n.*443A>T) n.11419A>T c.*7031A>T (n.*7031A>T) c.11274A>T (p.Ala3758=) c.11349A>T (p.Ala3783=) n.291A>T c.11346A>T (p.Ala3782=) c.11271A>T (p.Ala3757=) c.10971A>T (p.Ala3657=) c.8235A>T (p.Ala2745=) c.7128A>T (p.Ala2376=) c.11154A>T (p.Ala3718=) c.6906A>T (p.Ala2302=) c.10134A>T (p.Ala3378=) | dbSNP |
8 | g.99868348C>A | CA371791944 | VPS13B | c.*444C>A (n.*444C>A) n.11420C>A c.*7032C>A (n.*7032C>A) c.11275C>A (p.Gln3759Lys) c.11350C>A (p.Gln3784Lys) n.292C>A c.11347C>A (p.Gln3783Lys) c.11272C>A (p.Gln3758Lys) c.10972C>A (p.Gln3658Lys) c.8236C>A (p.Gln2746Lys) c.7129C>A (p.Gln2377Lys) c.11155C>A (p.Gln3719Lys) c.6907C>A (p.Gln2303Lys) c.10135C>A (p.Gln3379Lys) | |
8 | g.99868348C>G | CA208365 | VPS13B | c.*444C>G (n.*444C>G) n.11420C>G c.*7032C>G (n.*7032C>G) c.11275C>G (p.Gln3759Glu) c.11350C>G (p.Gln3784Glu) n.292C>G c.11347C>G (p.Gln3783Glu) c.11272C>G (p.Gln3758Glu) c.10972C>G (p.Gln3658Glu) c.8236C>G (p.Gln2746Glu) c.7129C>G (p.Gln2377Glu) c.11155C>G (p.Gln3719Glu) c.6907C>G (p.Gln2303Glu) c.10135C>G (p.Gln3379Glu) | ClinVar dbSNP gnomAD v4 |
8 | g.99868348C>T | CA371791942 | VPS13B | c.*444C>T (n.*444C>T) n.11420C>T c.*7032C>T (n.*7032C>T) c.11275C>T (p.Gln3759Ter) c.11350C>T (p.Gln3784Ter) n.292C>T c.11347C>T (p.Gln3783Ter) c.11272C>T (p.Gln3758Ter) c.10972C>T (p.Gln3658Ter) c.8236C>T (p.Gln2746Ter) c.7129C>T (p.Gln2377Ter) c.11155C>T (p.Gln3719Ter) c.6907C>T (p.Gln2303Ter) c.10135C>T (p.Gln3379Ter) | ClinVar |
8 | g.99868349A>C | CA371791947 | VPS13B | c.*445A>C (n.*445A>C) n.11421A>C c.*7033A>C (n.*7033A>C) c.11276A>C (p.Gln3759Pro) c.11351A>C (p.Gln3784Pro) n.293A>C c.11348A>C (p.Gln3783Pro) c.11273A>C (p.Gln3758Pro) c.10973A>C (p.Gln3658Pro) c.8237A>C (p.Gln2746Pro) c.7130A>C (p.Gln2377Pro) c.11156A>C (p.Gln3719Pro) c.6908A>C (p.Gln2303Pro) c.10136A>C (p.Gln3379Pro) | |
8 | g.99868349A>G | CA371791948 | VPS13B | c.*445A>G (n.*445A>G) n.11421A>G c.*7033A>G (n.*7033A>G) c.11276A>G (p.Gln3759Arg) c.11351A>G (p.Gln3784Arg) n.293A>G c.11348A>G (p.Gln3783Arg) c.11273A>G (p.Gln3758Arg) c.10973A>G (p.Gln3658Arg) c.8237A>G (p.Gln2746Arg) c.7130A>G (p.Gln2377Arg) c.11156A>G (p.Gln3719Arg) c.6908A>G (p.Gln2303Arg) c.10136A>G (p.Gln3379Arg) | |
8 | g.99868349A>T | CA371791950 | VPS13B | c.*445A>T (n.*445A>T) n.11421A>T c.*7033A>T (n.*7033A>T) c.11276A>T (p.Gln3759Leu) c.11351A>T (p.Gln3784Leu) n.293A>T c.11348A>T (p.Gln3783Leu) c.11273A>T (p.Gln3758Leu) c.10973A>T (p.Gln3658Leu) c.8237A>T (p.Gln2746Leu) c.7130A>T (p.Gln2377Leu) c.11156A>T (p.Gln3719Leu) c.6908A>T (p.Gln2303Leu) c.10136A>T (p.Gln3379Leu) | |
8 | g.99868350G>A | CA462339214 | VPS13B | c.*446G>A (n.*446G>A) n.11422G>A c.*7034G>A (n.*7034G>A) c.11277G>A (p.Gln3759=) c.11352G>A (p.Gln3784=) n.294G>A c.11349G>A (p.Gln3783=) c.11274G>A (p.Gln3758=) c.10974G>A (p.Gln3658=) c.8238G>A (p.Gln2746=) c.7131G>A (p.Gln2377=) c.11157G>A (p.Gln3719=) c.6909G>A (p.Gln2303=) c.10137G>A (p.Gln3379=) | |
8 | g.99868350G>C | CA371791952 | VPS13B | c.*446G>C (n.*446G>C) n.11422G>C c.*7034G>C (n.*7034G>C) c.11277G>C (p.Gln3759His) c.11352G>C (p.Gln3784His) n.294G>C c.11349G>C (p.Gln3783His) c.11274G>C (p.Gln3758His) c.10974G>C (p.Gln3658His) c.8238G>C (p.Gln2746His) c.7131G>C (p.Gln2377His) c.11157G>C (p.Gln3719His) c.6909G>C (p.Gln2303His) c.10137G>C (p.Gln3379His) | |
8 | g.99868350G>T | CA371791954 | VPS13B | c.*446G>T (n.*446G>T) n.11422G>T c.*7034G>T (n.*7034G>T) c.11277G>T (p.Gln3759His) c.11352G>T (p.Gln3784His) n.294G>T c.11349G>T (p.Gln3783His) c.11274G>T (p.Gln3758His) c.10974G>T (p.Gln3658His) c.8238G>T (p.Gln2746His) c.7131G>T (p.Gln2377His) c.11157G>T (p.Gln3719His) c.6909G>T (p.Gln2303His) c.10137G>T (p.Gln3379His) | dbSNP |
8 | g.99868351G>A | CA371791955 | VPS13B | c.*447G>A (n.*447G>A) n.11423G>A c.*7035G>A (n.*7035G>A) c.11278G>A (p.Ala3760Thr) c.11353G>A (p.Ala3785Thr) n.295G>A c.11350G>A (p.Ala3784Thr) c.11275G>A (p.Ala3759Thr) c.10975G>A (p.Ala3659Thr) c.8239G>A (p.Ala2747Thr) c.7132G>A (p.Ala2378Thr) c.11158G>A (p.Ala3720Thr) c.6910G>A (p.Ala2304Thr) c.10138G>A (p.Ala3380Thr) | |
8 | g.99868351G>C | CA371791957 | VPS13B | c.*447G>C (n.*447G>C) n.11423G>C c.*7035G>C (n.*7035G>C) c.11278G>C (p.Ala3760Pro) c.11353G>C (p.Ala3785Pro) n.295G>C c.11350G>C (p.Ala3784Pro) c.11275G>C (p.Ala3759Pro) c.10975G>C (p.Ala3659Pro) c.8239G>C (p.Ala2747Pro) c.7132G>C (p.Ala2378Pro) c.11158G>C (p.Ala3720Pro) c.6910G>C (p.Ala2304Pro) c.10138G>C (p.Ala3380Pro) | |
8 | g.99868351G>T | CA371791958 | VPS13B | c.*447G>T (n.*447G>T) n.11423G>T c.*7035G>T (n.*7035G>T) c.11278G>T (p.Ala3760Ser) c.11353G>T (p.Ala3785Ser) n.295G>T c.11350G>T (p.Ala3784Ser) c.11275G>T (p.Ala3759Ser) c.10975G>T (p.Ala3659Ser) c.8239G>T (p.Ala2747Ser) c.7132G>T (p.Ala2378Ser) c.11158G>T (p.Ala3720Ser) c.6910G>T (p.Ala2304Ser) c.10138G>T (p.Ala3380Ser) | |
8 | g.99868352C>A | CA371791961 | VPS13B | c.*448C>A (n.*448C>A) n.11424C>A c.*7036C>A (n.*7036C>A) c.11279C>A (p.Ala3760Asp) c.11354C>A (p.Ala3785Asp) n.296C>A c.11351C>A (p.Ala3784Asp) c.11276C>A (p.Ala3759Asp) c.10976C>A (p.Ala3659Asp) c.8240C>A (p.Ala2747Asp) c.7133C>A (p.Ala2378Asp) c.11159C>A (p.Ala3720Asp) c.6911C>A (p.Ala2304Asp) c.10139C>A (p.Ala3380Asp) | |
8 | g.99868352C>G | CA371791963 | VPS13B | c.*448C>G (n.*448C>G) n.11424C>G c.*7036C>G (n.*7036C>G) c.11279C>G (p.Ala3760Gly) c.11354C>G (p.Ala3785Gly) n.296C>G c.11351C>G (p.Ala3784Gly) c.11276C>G (p.Ala3759Gly) c.10976C>G (p.Ala3659Gly) c.8240C>G (p.Ala2747Gly) c.7133C>G (p.Ala2378Gly) c.11159C>G (p.Ala3720Gly) c.6911C>G (p.Ala2304Gly) c.10139C>G (p.Ala3380Gly) | |
8 | g.99868352C>T | CA371791964 | VPS13B | c.*448C>T (n.*448C>T) n.11424C>T c.*7036C>T (n.*7036C>T) c.11279C>T (p.Ala3760Val) c.11354C>T (p.Ala3785Val) n.296C>T c.11351C>T (p.Ala3784Val) c.11276C>T (p.Ala3759Val) c.10976C>T (p.Ala3659Val) c.8240C>T (p.Ala2747Val) c.7133C>T (p.Ala2378Val) c.11159C>T (p.Ala3720Val) c.6911C>T (p.Ala2304Val) c.10139C>T (p.Ala3380Val) | gnomAD v4 |
8 | g.99868353T>A | CA462339220 | VPS13B | c.*449T>A (n.*449T>A) n.11425T>A c.*7037T>A (n.*7037T>A) c.11280T>A (p.Ala3760=) c.11355T>A (p.Ala3785=) n.297T>A c.11352T>A (p.Ala3784=) c.11277T>A (p.Ala3759=) c.10977T>A (p.Ala3659=) c.8241T>A (p.Ala2747=) c.7134T>A (p.Ala2378=) c.11160T>A (p.Ala3720=) c.6912T>A (p.Ala2304=) c.10140T>A (p.Ala3380=) | |
8 | g.99868353T>C | CA462339222 | VPS13B | c.*449T>C (n.*449T>C) n.11425T>C c.*7037T>C (n.*7037T>C) c.11280T>C (p.Ala3760=) c.11355T>C (p.Ala3785=) n.297T>C c.11352T>C (p.Ala3784=) c.11277T>C (p.Ala3759=) c.10977T>C (p.Ala3659=) c.8241T>C (p.Ala2747=) c.7134T>C (p.Ala2378=) c.11160T>C (p.Ala3720=) c.6912T>C (p.Ala2304=) c.10140T>C (p.Ala3380=) | |
8 | g.99868353T>G | CA462339221 | VPS13B | c.*449T>G (n.*449T>G) n.11425T>G c.*7037T>G (n.*7037T>G) c.11280T>G (p.Ala3760=) c.11355T>G (p.Ala3785=) n.297T>G c.11352T>G (p.Ala3784=) c.11277T>G (p.Ala3759=) c.10977T>G (p.Ala3659=) c.8241T>G (p.Ala2747=) c.7134T>G (p.Ala2378=) c.11160T>G (p.Ala3720=) c.6912T>G (p.Ala2304=) c.10140T>G (p.Ala3380=) | |
8 | g.99868354T>A | CA371791968 | VPS13B | c.*450T>A (n.*450T>A) n.11426T>A c.*7038T>A (n.*7038T>A) c.11281T>A (p.Ser3761Thr) c.11356T>A (p.Ser3786Thr) n.298T>A c.11353T>A (p.Ser3785Thr) c.11278T>A (p.Ser3760Thr) c.10978T>A (p.Ser3660Thr) c.8242T>A (p.Ser2748Thr) c.7135T>A (p.Ser2379Thr) c.11161T>A (p.Ser3721Thr) c.6913T>A (p.Ser2305Thr) c.10141T>A (p.Ser3381Thr) | |
8 | g.99868354T>C | CA371791969 | VPS13B | c.*450T>C (n.*450T>C) n.11426T>C c.*7038T>C (n.*7038T>C) c.11281T>C (p.Ser3761Pro) c.11356T>C (p.Ser3786Pro) n.298T>C c.11353T>C (p.Ser3785Pro) c.11278T>C (p.Ser3760Pro) c.10978T>C (p.Ser3660Pro) c.8242T>C (p.Ser2748Pro) c.7135T>C (p.Ser2379Pro) c.11161T>C (p.Ser3721Pro) c.6913T>C (p.Ser2305Pro) c.10141T>C (p.Ser3381Pro) | |
8 | g.99868354T>G | CA371791970 | VPS13B | c.*450T>G (n.*450T>G) n.11426T>G c.*7038T>G (n.*7038T>G) c.11281T>G (p.Ser3761Ala) c.11356T>G (p.Ser3786Ala) n.298T>G c.11353T>G (p.Ser3785Ala) c.11278T>G (p.Ser3760Ala) c.10978T>G (p.Ser3660Ala) c.8242T>G (p.Ser2748Ala) c.7135T>G (p.Ser2379Ala) c.11161T>G (p.Ser3721Ala) c.6913T>G (p.Ser2305Ala) c.10141T>G (p.Ser3381Ala) | |
8 | g.99868355C>A | CA371791975 | VPS13B | c.*451C>A (n.*451C>A) n.11427C>A c.*7039C>A (n.*7039C>A) c.11282C>A (p.Ser3761Ter) c.11357C>A (p.Ser3786Ter) n.299C>A c.11354C>A (p.Ser3785Ter) c.11279C>A (p.Ser3760Ter) c.10979C>A (p.Ser3660Ter) c.8243C>A (p.Ser2748Ter) c.7136C>A (p.Ser2379Ter) c.11162C>A (p.Ser3721Ter) c.6914C>A (p.Ser2305Ter) c.10142C>A (p.Ser3381Ter) | |
8 | g.99868355C>G | CA371791977 | VPS13B | c.*451C>G (n.*451C>G) n.11427C>G c.*7039C>G (n.*7039C>G) c.11282C>G (p.Ser3761Ter) c.11357C>G (p.Ser3786Ter) n.299C>G c.11354C>G (p.Ser3785Ter) c.11279C>G (p.Ser3760Ter) c.10979C>G (p.Ser3660Ter) c.8243C>G (p.Ser2748Ter) c.7136C>G (p.Ser2379Ter) c.11162C>G (p.Ser3721Ter) c.6914C>G (p.Ser2305Ter) c.10142C>G (p.Ser3381Ter) | |
8 | g.99868355C>T | CA371791973 | VPS13B | c.*451C>T (n.*451C>T) n.11427C>T c.*7039C>T (n.*7039C>T) c.11282C>T (p.Ser3761Leu) c.11357C>T (p.Ser3786Leu) n.299C>T c.11354C>T (p.Ser3785Leu) c.11279C>T (p.Ser3760Leu) c.10979C>T (p.Ser3660Leu) c.8243C>T (p.Ser2748Leu) c.7136C>T (p.Ser2379Leu) c.11162C>T (p.Ser3721Leu) c.6914C>T (p.Ser2305Leu) c.10142C>T (p.Ser3381Leu) | |
8 | g.99868356A>C | CA462339225 | VPS13B | c.*452A>C (n.*452A>C) n.11428A>C c.*7040A>C (n.*7040A>C) c.11283A>C (p.Ser3761=) c.11358A>C (p.Ser3786=) n.300A>C c.11355A>C (p.Ser3785=) c.11280A>C (p.Ser3760=) c.10980A>C (p.Ser3660=) c.8244A>C (p.Ser2748=) c.7137A>C (p.Ser2379=) c.11163A>C (p.Ser3721=) c.6915A>C (p.Ser2305=) c.10143A>C (p.Ser3381=) | ClinVar dbSNP gnomAD v4 |
8 | g.99868356A>G | CA462339227 | VPS13B | c.*452A>G (n.*452A>G) n.11428A>G c.*7040A>G (n.*7040A>G) c.11283A>G (p.Ser3761=) c.11358A>G (p.Ser3786=) n.300A>G c.11355A>G (p.Ser3785=) c.11280A>G (p.Ser3760=) c.10980A>G (p.Ser3660=) c.8244A>G (p.Ser2748=) c.7137A>G (p.Ser2379=) c.11163A>G (p.Ser3721=) c.6915A>G (p.Ser2305=) c.10143A>G (p.Ser3381=) | dbSNP gnomAD v4 |
8 | g.99868356A>T | CA462339228 | VPS13B | c.*452A>T (n.*452A>T) n.11428A>T c.*7040A>T (n.*7040A>T) c.11283A>T (p.Ser3761=) c.11358A>T (p.Ser3786=) n.300A>T c.11355A>T (p.Ser3785=) c.11280A>T (p.Ser3760=) c.10980A>T (p.Ser3660=) c.8244A>T (p.Ser2748=) c.7137A>T (p.Ser2379=) c.11163A>T (p.Ser3721=) c.6915A>T (p.Ser2305=) c.10143A>T (p.Ser3381=) | |
8 | g.99868357G>A | CA371791979 | VPS13B | c.*453G>A (n.*453G>A) n.11429G>A c.*7041G>A (n.*7041G>A) c.11284G>A (p.Ala3762Thr) c.11359G>A (p.Ala3787Thr) n.301G>A c.11356G>A (p.Ala3786Thr) c.11281G>A (p.Ala3761Thr) c.10981G>A (p.Ala3661Thr) c.8245G>A (p.Ala2749Thr) c.7138G>A (p.Ala2380Thr) c.11164G>A (p.Ala3722Thr) c.6916G>A (p.Ala2306Thr) c.10144G>A (p.Ala3382Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868357G>C | CA371791980 | VPS13B | c.*453G>C (n.*453G>C) n.11429G>C c.*7041G>C (n.*7041G>C) c.11284G>C (p.Ala3762Pro) c.11359G>C (p.Ala3787Pro) n.301G>C c.11356G>C (p.Ala3786Pro) c.11281G>C (p.Ala3761Pro) c.10981G>C (p.Ala3661Pro) c.8245G>C (p.Ala2749Pro) c.7138G>C (p.Ala2380Pro) c.11164G>C (p.Ala3722Pro) c.6916G>C (p.Ala2306Pro) c.10144G>C (p.Ala3382Pro) | |
8 | g.99868357G>T | CA371791982 | VPS13B | c.*453G>T (n.*453G>T) n.11429G>T c.*7041G>T (n.*7041G>T) c.11284G>T (p.Ala3762Ser) c.11359G>T (p.Ala3787Ser) n.301G>T c.11356G>T (p.Ala3786Ser) c.11281G>T (p.Ala3761Ser) c.10981G>T (p.Ala3661Ser) c.8245G>T (p.Ala2749Ser) c.7138G>T (p.Ala2380Ser) c.11164G>T (p.Ala3722Ser) c.6916G>T (p.Ala2306Ser) c.10144G>T (p.Ala3382Ser) | |
8 | g.99868358C>A | CA371791984 | VPS13B | c.*454C>A (n.*454C>A) n.11430C>A c.*7042C>A (n.*7042C>A) c.11285C>A (p.Ala3762Glu) c.11360C>A (p.Ala3787Glu) n.302C>A c.11357C>A (p.Ala3786Glu) c.11282C>A (p.Ala3761Glu) c.10982C>A (p.Ala3661Glu) c.8246C>A (p.Ala2749Glu) c.7139C>A (p.Ala2380Glu) c.11165C>A (p.Ala3722Glu) c.6917C>A (p.Ala2306Glu) c.10145C>A (p.Ala3382Glu) | |
8 | g.99868358C>G | CA371791986 | VPS13B | c.*454C>G (n.*454C>G) n.11430C>G c.*7042C>G (n.*7042C>G) c.11285C>G (p.Ala3762Gly) c.11360C>G (p.Ala3787Gly) n.302C>G c.11357C>G (p.Ala3786Gly) c.11282C>G (p.Ala3761Gly) c.10982C>G (p.Ala3661Gly) c.8246C>G (p.Ala2749Gly) c.7139C>G (p.Ala2380Gly) c.11165C>G (p.Ala3722Gly) c.6917C>G (p.Ala2306Gly) c.10145C>G (p.Ala3382Gly) | |
8 | g.99868358C>T | CA4825202 | VPS13B | c.*454C>T (n.*454C>T) n.11430C>T c.*7042C>T (n.*7042C>T) c.11285C>T (p.Ala3762Val) c.11360C>T (p.Ala3787Val) n.302C>T c.11357C>T (p.Ala3786Val) c.11282C>T (p.Ala3761Val) c.10982C>T (p.Ala3661Val) c.8246C>T (p.Ala2749Val) c.7139C>T (p.Ala2380Val) c.11165C>T (p.Ala3722Val) c.6917C>T (p.Ala2306Val) c.10145C>T (p.Ala3382Val) | ClinVar dbSNP ExAC gnomAD v2 |
8 | g.99868359A>C | CA462339233 | VPS13B | c.*455A>C (n.*455A>C) n.11431A>C c.*7043A>C (n.*7043A>C) c.11286A>C (p.Ala3762=) c.11361A>C (p.Ala3787=) n.303A>C c.11358A>C (p.Ala3786=) c.11283A>C (p.Ala3761=) c.10983A>C (p.Ala3661=) c.8247A>C (p.Ala2749=) c.7140A>C (p.Ala2380=) c.11166A>C (p.Ala3722=) c.6918A>C (p.Ala2306=) c.10146A>C (p.Ala3382=) | |
8 | g.99868359A>G | CA4825203 | VPS13B | c.*455A>G (n.*455A>G) n.11431A>G c.*7043A>G (n.*7043A>G) c.11286A>G (p.Ala3762=) c.11361A>G (p.Ala3787=) n.303A>G c.11358A>G (p.Ala3786=) c.11283A>G (p.Ala3761=) c.10983A>G (p.Ala3661=) c.8247A>G (p.Ala2749=) c.7140A>G (p.Ala2380=) c.11166A>G (p.Ala3722=) c.6918A>G (p.Ala2306=) c.10146A>G (p.Ala3382=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868359A>T | CA462339234 | VPS13B | c.*455A>T (n.*455A>T) n.11431A>T c.*7043A>T (n.*7043A>T) c.11286A>T (p.Ala3762=) c.11361A>T (p.Ala3787=) n.303A>T c.11358A>T (p.Ala3786=) c.11283A>T (p.Ala3761=) c.10983A>T (p.Ala3661=) c.8247A>T (p.Ala2749=) c.7140A>T (p.Ala2380=) c.11166A>T (p.Ala3722=) c.6918A>T (p.Ala2306=) c.10146A>T (p.Ala3382=) | |
8 | g.99868360G>A | CA371791989 | VPS13B | c.*456G>A (n.*456G>A) n.11432G>A c.*7044G>A (n.*7044G>A) c.11287G>A (p.Gly3763Arg) c.11362G>A (p.Gly3788Arg) n.304G>A c.11359G>A (p.Gly3787Arg) c.11284G>A (p.Gly3762Arg) c.10984G>A (p.Gly3662Arg) c.8248G>A (p.Gly2750Arg) c.7141G>A (p.Gly2381Arg) c.11167G>A (p.Gly3723Arg) c.6919G>A (p.Gly2307Arg) c.10147G>A (p.Gly3383Arg) | |
8 | g.99868360G>C | CA371791991 | VPS13B | c.*456G>C (n.*456G>C) n.11432G>C c.*7044G>C (n.*7044G>C) c.11287G>C (p.Gly3763Arg) c.11362G>C (p.Gly3788Arg) n.304G>C c.11359G>C (p.Gly3787Arg) c.11284G>C (p.Gly3762Arg) c.10984G>C (p.Gly3662Arg) c.8248G>C (p.Gly2750Arg) c.7141G>C (p.Gly2381Arg) c.11167G>C (p.Gly3723Arg) c.6919G>C (p.Gly2307Arg) c.10147G>C (p.Gly3383Arg) | gnomAD v4 |
8 | g.99868360G>T | CA371791993 | VPS13B | c.*456G>T (n.*456G>T) n.11432G>T c.*7044G>T (n.*7044G>T) c.11287G>T (p.Gly3763Ter) c.11362G>T (p.Gly3788Ter) n.304G>T c.11359G>T (p.Gly3787Ter) c.11284G>T (p.Gly3762Ter) c.10984G>T (p.Gly3662Ter) c.8248G>T (p.Gly2750Ter) c.7141G>T (p.Gly2381Ter) c.11167G>T (p.Gly3723Ter) c.6919G>T (p.Gly2307Ter) c.10147G>T (p.Gly3383Ter) | |
8 | g.99868361G>A | CA371791995 | VPS13B | c.*457G>A (n.*457G>A) n.11433G>A c.*7045G>A (n.*7045G>A) c.11288G>A (p.Gly3763Glu) c.11363G>A (p.Gly3788Glu) n.305G>A c.11360G>A (p.Gly3787Glu) c.11285G>A (p.Gly3762Glu) c.10985G>A (p.Gly3662Glu) c.8249G>A (p.Gly2750Glu) c.7142G>A (p.Gly2381Glu) c.11168G>A (p.Gly3723Glu) c.6920G>A (p.Gly2307Glu) c.10148G>A (p.Gly3383Glu) | |
8 | g.99868361G>C | CA371791997 | VPS13B | c.*457G>C (n.*457G>C) n.11433G>C c.*7045G>C (n.*7045G>C) c.11288G>C (p.Gly3763Ala) c.11363G>C (p.Gly3788Ala) n.305G>C c.11360G>C (p.Gly3787Ala) c.11285G>C (p.Gly3762Ala) c.10985G>C (p.Gly3662Ala) c.8249G>C (p.Gly2750Ala) c.7142G>C (p.Gly2381Ala) c.11168G>C (p.Gly3723Ala) c.6920G>C (p.Gly2307Ala) c.10148G>C (p.Gly3383Ala) | |
8 | g.99868361G>T | CA371791999 | VPS13B | c.*457G>T (n.*457G>T) n.11433G>T c.*7045G>T (n.*7045G>T) c.11288G>T (p.Gly3763Val) c.11363G>T (p.Gly3788Val) n.305G>T c.11360G>T (p.Gly3787Val) c.11285G>T (p.Gly3762Val) c.10985G>T (p.Gly3662Val) c.8249G>T (p.Gly2750Val) c.7142G>T (p.Gly2381Val) c.11168G>T (p.Gly3723Val) c.6920G>T (p.Gly2307Val) c.10148G>T (p.Gly3383Val) | |
8 | g.99868362A>C | CA462339240 | VPS13B | c.*458A>C (n.*458A>C) n.11434A>C c.*7046A>C (n.*7046A>C) c.11289A>C (p.Gly3763=) c.11364A>C (p.Gly3788=) n.306A>C c.11361A>C (p.Gly3787=) c.11286A>C (p.Gly3762=) c.10986A>C (p.Gly3662=) c.8250A>C (p.Gly2750=) c.7143A>C (p.Gly2381=) c.11169A>C (p.Gly3723=) c.6921A>C (p.Gly2307=) c.10149A>C (p.Gly3383=) | |
8 | g.99868362A>G | CA462339241 | VPS13B | c.*458A>G (n.*458A>G) n.11434A>G c.*7046A>G (n.*7046A>G) c.11289A>G (p.Gly3763=) c.11364A>G (p.Gly3788=) n.306A>G c.11361A>G (p.Gly3787=) c.11286A>G (p.Gly3762=) c.10986A>G (p.Gly3662=) c.8250A>G (p.Gly2750=) c.7143A>G (p.Gly2381=) c.11169A>G (p.Gly3723=) c.6921A>G (p.Gly2307=) c.10149A>G (p.Gly3383=) | |
8 | g.99868362A>T | CA462339243 | VPS13B | c.*458A>T (n.*458A>T) n.11434A>T c.*7046A>T (n.*7046A>T) c.11289A>T (p.Gly3763=) c.11364A>T (p.Gly3788=) n.306A>T c.11361A>T (p.Gly3787=) c.11286A>T (p.Gly3762=) c.10986A>T (p.Gly3662=) c.8250A>T (p.Gly2750=) c.7143A>T (p.Gly2381=) c.11169A>T (p.Gly3723=) c.6921A>T (p.Gly2307=) c.10149A>T (p.Gly3383=) | |
8 | g.99868363C>A | CA371792001 | VPS13B | c.*459C>A (n.*459C>A) n.11435C>A c.*7047C>A (n.*7047C>A) c.11290C>A (p.His3764Asn) c.11365C>A (p.His3789Asn) n.307C>A c.11362C>A (p.His3788Asn) c.11287C>A (p.His3763Asn) c.10987C>A (p.His3663Asn) c.8251C>A (p.His2751Asn) c.7144C>A (p.His2382Asn) c.11170C>A (p.His3724Asn) c.6922C>A (p.His2308Asn) c.10150C>A (p.His3384Asn) | |
8 | g.99868363C>G | CA371792005 | VPS13B | c.*459C>G (n.*459C>G) n.11435C>G c.*7047C>G (n.*7047C>G) c.11290C>G (p.His3764Asp) c.11365C>G (p.His3789Asp) n.307C>G c.11362C>G (p.His3788Asp) c.11287C>G (p.His3763Asp) c.10987C>G (p.His3663Asp) c.8251C>G (p.His2751Asp) c.7144C>G (p.His2382Asp) c.11170C>G (p.His3724Asp) c.6922C>G (p.His2308Asp) c.10150C>G (p.His3384Asp) | |
8 | g.99868363C>T | CA371792003 | VPS13B | c.*459C>T (n.*459C>T) n.11435C>T c.*7047C>T (n.*7047C>T) c.11290C>T (p.His3764Tyr) c.11365C>T (p.His3789Tyr) n.307C>T c.11362C>T (p.His3788Tyr) c.11287C>T (p.His3763Tyr) c.10987C>T (p.His3663Tyr) c.8251C>T (p.His2751Tyr) c.7144C>T (p.His2382Tyr) c.11170C>T (p.His3724Tyr) c.6922C>T (p.His2308Tyr) c.10150C>T (p.His3384Tyr) | |
8 | g.99868364A>C | CA371792007 | VPS13B | c.*460A>C (n.*460A>C) n.11436A>C c.*7048A>C (n.*7048A>C) c.11291A>C (p.His3764Pro) c.11366A>C (p.His3789Pro) n.308A>C c.11363A>C (p.His3788Pro) c.11288A>C (p.His3763Pro) c.10988A>C (p.His3663Pro) c.8252A>C (p.His2751Pro) c.7145A>C (p.His2382Pro) c.11171A>C (p.His3724Pro) c.6923A>C (p.His2308Pro) c.10151A>C (p.His3384Pro) | |
8 | g.99868364A>G | CA371792009 | VPS13B | c.*460A>G (n.*460A>G) n.11436A>G c.*7048A>G (n.*7048A>G) c.11291A>G (p.His3764Arg) c.11366A>G (p.His3789Arg) n.308A>G c.11363A>G (p.His3788Arg) c.11288A>G (p.His3763Arg) c.10988A>G (p.His3663Arg) c.8252A>G (p.His2751Arg) c.7145A>G (p.His2382Arg) c.11171A>G (p.His3724Arg) c.6923A>G (p.His2308Arg) c.10151A>G (p.His3384Arg) | |
8 | g.99868364A>T | CA371792011 | VPS13B | c.*460A>T (n.*460A>T) n.11436A>T c.*7048A>T (n.*7048A>T) c.11291A>T (p.His3764Leu) c.11366A>T (p.His3789Leu) n.308A>T c.11363A>T (p.His3788Leu) c.11288A>T (p.His3763Leu) c.10988A>T (p.His3663Leu) c.8252A>T (p.His2751Leu) c.7145A>T (p.His2382Leu) c.11171A>T (p.His3724Leu) c.6923A>T (p.His2308Leu) c.10151A>T (p.His3384Leu) | |
8 | g.99868365C>A | CA371792013 | VPS13B | c.*461C>A (n.*461C>A) n.11437C>A c.*7049C>A (n.*7049C>A) c.11292C>A (p.His3764Gln) c.11367C>A (p.His3789Gln) n.309C>A c.11364C>A (p.His3788Gln) c.11289C>A (p.His3763Gln) c.10989C>A (p.His3663Gln) c.8253C>A (p.His2751Gln) c.7146C>A (p.His2382Gln) c.11172C>A (p.His3724Gln) c.6924C>A (p.His2308Gln) c.10152C>A (p.His3384Gln) | |
8 | g.99868365C>G | CA371792014 | VPS13B | c.*461C>G (n.*461C>G) n.11437C>G c.*7049C>G (n.*7049C>G) c.11292C>G (p.His3764Gln) c.11367C>G (p.His3789Gln) n.309C>G c.11364C>G (p.His3788Gln) c.11289C>G (p.His3763Gln) c.10989C>G (p.His3663Gln) c.8253C>G (p.His2751Gln) c.7146C>G (p.His2382Gln) c.11172C>G (p.His3724Gln) c.6924C>G (p.His2308Gln) c.10152C>G (p.His3384Gln) | |
8 | g.99868365C>T | CA462339251 | VPS13B | c.*461C>T (n.*461C>T) n.11437C>T c.*7049C>T (n.*7049C>T) c.11292C>T (p.His3764=) c.11367C>T (p.His3789=) n.309C>T c.11364C>T (p.His3788=) c.11289C>T (p.His3763=) c.10989C>T (p.His3663=) c.8253C>T (p.His2751=) c.7146C>T (p.His2382=) c.11172C>T (p.His3724=) c.6924C>T (p.His2308=) c.10152C>T (p.His3384=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868366A>C | CA371792015 | VPS13B | c.*462A>C (n.*462A>C) n.11438A>C c.*7050A>C (n.*7050A>C) c.11293A>C (p.Lys3765Gln) c.11368A>C (p.Lys3790Gln) n.310A>C c.11365A>C (p.Lys3789Gln) c.11290A>C (p.Lys3764Gln) c.10990A>C (p.Lys3664Gln) c.8254A>C (p.Lys2752Gln) c.7147A>C (p.Lys2383Gln) c.11173A>C (p.Lys3725Gln) c.6925A>C (p.Lys2309Gln) c.10153A>C (p.Lys3385Gln) | |
8 | g.99868366A>G | CA371792017 | VPS13B | c.*462A>G (n.*462A>G) n.11438A>G c.*7050A>G (n.*7050A>G) c.11293A>G (p.Lys3765Glu) c.11368A>G (p.Lys3790Glu) n.310A>G c.11365A>G (p.Lys3789Glu) c.11290A>G (p.Lys3764Glu) c.10990A>G (p.Lys3664Glu) c.8254A>G (p.Lys2752Glu) c.7147A>G (p.Lys2383Glu) c.11173A>G (p.Lys3725Glu) c.6925A>G (p.Lys2309Glu) c.10153A>G (p.Lys3385Glu) | |
8 | g.99868366A>T | CA371792019 | VPS13B | c.*462A>T (n.*462A>T) n.11438A>T c.*7050A>T (n.*7050A>T) c.11293A>T (p.Lys3765Ter) c.11368A>T (p.Lys3790Ter) n.310A>T c.11365A>T (p.Lys3789Ter) c.11290A>T (p.Lys3764Ter) c.10990A>T (p.Lys3664Ter) c.8254A>T (p.Lys2752Ter) c.7147A>T (p.Lys2383Ter) c.11173A>T (p.Lys3725Ter) c.6925A>T (p.Lys2309Ter) c.10153A>T (p.Lys3385Ter) | |
8 | g.99868367A>C | CA371792021 | VPS13B | c.*463A>C (n.*463A>C) n.11439A>C c.*7051A>C (n.*7051A>C) c.11294A>C (p.Lys3765Thr) c.11369A>C (p.Lys3790Thr) n.311A>C c.11366A>C (p.Lys3789Thr) c.11291A>C (p.Lys3764Thr) c.10991A>C (p.Lys3664Thr) c.8255A>C (p.Lys2752Thr) c.7148A>C (p.Lys2383Thr) c.11174A>C (p.Lys3725Thr) c.6926A>C (p.Lys2309Thr) c.10154A>C (p.Lys3385Thr) | |
8 | g.99868367A>G | CA371792023 | VPS13B | c.*463A>G (n.*463A>G) n.11439A>G c.*7051A>G (n.*7051A>G) c.11294A>G (p.Lys3765Arg) c.11369A>G (p.Lys3790Arg) n.311A>G c.11366A>G (p.Lys3789Arg) c.11291A>G (p.Lys3764Arg) c.10991A>G (p.Lys3664Arg) c.8255A>G (p.Lys2752Arg) c.7148A>G (p.Lys2383Arg) c.11174A>G (p.Lys3725Arg) c.6926A>G (p.Lys2309Arg) c.10154A>G (p.Lys3385Arg) | |
8 | g.99868367A>T | CA371792024 | VPS13B | c.*463A>T (n.*463A>T) n.11439A>T c.*7051A>T (n.*7051A>T) c.11294A>T (p.Lys3765Met) c.11369A>T (p.Lys3790Met) n.311A>T c.11366A>T (p.Lys3789Met) c.11291A>T (p.Lys3764Met) c.10991A>T (p.Lys3664Met) c.8255A>T (p.Lys2752Met) c.7148A>T (p.Lys2383Met) c.11174A>T (p.Lys3725Met) c.6926A>T (p.Lys2309Met) c.10154A>T (p.Lys3385Met) | |
8 | g.99868368G>A | CA462339256 | VPS13B | c.*464G>A (n.*464G>A) n.11440G>A c.*7052G>A (n.*7052G>A) c.11295G>A (p.Lys3765=) c.11370G>A (p.Lys3790=) n.312G>A c.11367G>A (p.Lys3789=) c.11292G>A (p.Lys3764=) c.10992G>A (p.Lys3664=) c.8256G>A (p.Lys2752=) c.7149G>A (p.Lys2383=) c.11175G>A (p.Lys3725=) c.6927G>A (p.Lys2309=) c.10155G>A (p.Lys3385=) | gnomAD v4 |
8 | g.99868368G>C | CA371792027 | VPS13B | c.*464G>C (n.*464G>C) n.11440G>C c.*7052G>C (n.*7052G>C) c.11295G>C (p.Lys3765Asn) c.11370G>C (p.Lys3790Asn) n.312G>C c.11367G>C (p.Lys3789Asn) c.11292G>C (p.Lys3764Asn) c.10992G>C (p.Lys3664Asn) c.8256G>C (p.Lys2752Asn) c.7149G>C (p.Lys2383Asn) c.11175G>C (p.Lys3725Asn) c.6927G>C (p.Lys2309Asn) c.10155G>C (p.Lys3385Asn) | |
8 | g.99868368G>T | CA371792026 | VPS13B | c.*464G>T (n.*464G>T) n.11440G>T c.*7052G>T (n.*7052G>T) c.11295G>T (p.Lys3765Asn) c.11370G>T (p.Lys3790Asn) n.312G>T c.11367G>T (p.Lys3789Asn) c.11292G>T (p.Lys3764Asn) c.10992G>T (p.Lys3664Asn) c.8256G>T (p.Lys2752Asn) c.7149G>T (p.Lys2383Asn) c.11175G>T (p.Lys3725Asn) c.6927G>T (p.Lys2309Asn) c.10155G>T (p.Lys3385Asn) | |
8 | g.99868369G>A | CA371792030 | VPS13B | c.*465G>A (n.*465G>A) n.11441G>A c.*7053G>A (n.*7053G>A) c.11296G>A (p.Ala3766Thr) c.11371G>A (p.Ala3791Thr) n.313G>A c.11368G>A (p.Ala3790Thr) c.11293G>A (p.Ala3765Thr) c.10993G>A (p.Ala3665Thr) c.8257G>A (p.Ala2753Thr) c.7150G>A (p.Ala2384Thr) c.11176G>A (p.Ala3726Thr) c.6928G>A (p.Ala2310Thr) c.10156G>A (p.Ala3386Thr) | |
8 | g.99868369G>C | CA371792033 | VPS13B | c.*465G>C (n.*465G>C) n.11441G>C c.*7053G>C (n.*7053G>C) c.11296G>C (p.Ala3766Pro) c.11371G>C (p.Ala3791Pro) n.313G>C c.11368G>C (p.Ala3790Pro) c.11293G>C (p.Ala3765Pro) c.10993G>C (p.Ala3665Pro) c.8257G>C (p.Ala2753Pro) c.7150G>C (p.Ala2384Pro) c.11176G>C (p.Ala3726Pro) c.6928G>C (p.Ala2310Pro) c.10156G>C (p.Ala3386Pro) | |
8 | g.99868369G>T | CA371792031 | VPS13B | c.*465G>T (n.*465G>T) n.11441G>T c.*7053G>T (n.*7053G>T) c.11296G>T (p.Ala3766Ser) c.11371G>T (p.Ala3791Ser) n.313G>T c.11368G>T (p.Ala3790Ser) c.11293G>T (p.Ala3765Ser) c.10993G>T (p.Ala3665Ser) c.8257G>T (p.Ala2753Ser) c.7150G>T (p.Ala2384Ser) c.11176G>T (p.Ala3726Ser) c.6928G>T (p.Ala2310Ser) c.10156G>T (p.Ala3386Ser) | gnomAD v4 |
8 | g.99868370C>A | CA371792035 | VPS13B | c.*466C>A (n.*466C>A) n.11442C>A c.*7054C>A (n.*7054C>A) c.11297C>A (p.Ala3766Asp) c.11372C>A (p.Ala3791Asp) n.314C>A c.11369C>A (p.Ala3790Asp) c.11294C>A (p.Ala3765Asp) c.10994C>A (p.Ala3665Asp) c.8258C>A (p.Ala2753Asp) c.7151C>A (p.Ala2384Asp) c.11177C>A (p.Ala3726Asp) c.6929C>A (p.Ala2310Asp) c.10157C>A (p.Ala3386Asp) | |
8 | g.99868370C>G | CA371792037 | VPS13B | c.*466C>G (n.*466C>G) n.11442C>G c.*7054C>G (n.*7054C>G) c.11297C>G (p.Ala3766Gly) c.11372C>G (p.Ala3791Gly) n.314C>G c.11369C>G (p.Ala3790Gly) c.11294C>G (p.Ala3765Gly) c.10994C>G (p.Ala3665Gly) c.8258C>G (p.Ala2753Gly) c.7151C>G (p.Ala2384Gly) c.11177C>G (p.Ala3726Gly) c.6929C>G (p.Ala2310Gly) c.10157C>G (p.Ala3386Gly) | |
8 | g.99868370C>T | CA371792039 | VPS13B | c.*466C>T (n.*466C>T) n.11442C>T c.*7054C>T (n.*7054C>T) c.11297C>T (p.Ala3766Val) c.11372C>T (p.Ala3791Val) n.314C>T c.11369C>T (p.Ala3790Val) c.11294C>T (p.Ala3765Val) c.10994C>T (p.Ala3665Val) c.8258C>T (p.Ala2753Val) c.7151C>T (p.Ala2384Val) c.11177C>T (p.Ala3726Val) c.6929C>T (p.Ala2310Val) c.10157C>T (p.Ala3386Val) | |
8 | g.99868371dup | CA2697550079 | VPS13B | c.*467dup (n.*467dup) n.11443dup c.*7055dup (n.*7055dup) c.11298dup (p.Lys3767GlnfsTer24) c.11373dup (p.Lys3792GlnfsTer24) n.315dup c.11370dup (p.Lys3791GlnfsTer24) c.11295dup (p.Lys3766GlnfsTer24) c.10995dup (p.Lys3666GlnfsTer24) c.8259dup (p.Lys2754GlnfsTer24) c.7152dup (p.Lys2385GlnfsTer24) c.11178dup (p.Lys3727GlnfsTer24) c.6930dup (p.Lys2311GlnfsTer24) c.10158dup (p.Lys3387GlnfsTer24) | ClinVar |
8 | g.99868371C>A | CA462339260 | VPS13B | c.*467C>A (n.*467C>A) n.11443C>A c.*7055C>A (n.*7055C>A) c.11298C>A (p.Ala3766=) c.11373C>A (p.Ala3791=) n.315C>A c.11370C>A (p.Ala3790=) c.11295C>A (p.Ala3765=) c.10995C>A (p.Ala3665=) c.8259C>A (p.Ala2753=) c.7152C>A (p.Ala2384=) c.11178C>A (p.Ala3726=) c.6930C>A (p.Ala2310=) c.10158C>A (p.Ala3386=) | |
8 | g.99868371C>G | CA462339261 | VPS13B | c.*467C>G (n.*467C>G) n.11443C>G c.*7055C>G (n.*7055C>G) c.11298C>G (p.Ala3766=) c.11373C>G (p.Ala3791=) n.315C>G c.11370C>G (p.Ala3790=) c.11295C>G (p.Ala3765=) c.10995C>G (p.Ala3665=) c.8259C>G (p.Ala2753=) c.7152C>G (p.Ala2384=) c.11178C>G (p.Ala3726=) c.6930C>G (p.Ala2310=) c.10158C>G (p.Ala3386=) | |
8 | g.99868371C>T | CA462339263 | VPS13B | c.*467C>T (n.*467C>T) n.11443C>T c.*7055C>T (n.*7055C>T) c.11298C>T (p.Ala3766=) c.11373C>T (p.Ala3791=) n.315C>T c.11370C>T (p.Ala3790=) c.11295C>T (p.Ala3765=) c.10995C>T (p.Ala3665=) c.8259C>T (p.Ala2753=) c.7152C>T (p.Ala2384=) c.11178C>T (p.Ala3726=) c.6930C>T (p.Ala2310=) c.10158C>T (p.Ala3386=) | |
8 | g.99868372A>C | CA371792041 | VPS13B | c.*468A>C (n.*468A>C) n.11444A>C c.*7056A>C (n.*7056A>C) c.11299A>C (p.Lys3767Gln) c.11374A>C (p.Lys3792Gln) n.316A>C c.11371A>C (p.Lys3791Gln) c.11296A>C (p.Lys3766Gln) c.10996A>C (p.Lys3666Gln) c.8260A>C (p.Lys2754Gln) c.7153A>C (p.Lys2385Gln) c.11179A>C (p.Lys3727Gln) c.6931A>C (p.Lys2311Gln) c.10159A>C (p.Lys3387Gln) | |
8 | g.99868372A>G | CA371792043 | VPS13B | c.*468A>G (n.*468A>G) n.11444A>G c.*7056A>G (n.*7056A>G) c.11299A>G (p.Lys3767Glu) c.11374A>G (p.Lys3792Glu) n.316A>G c.11371A>G (p.Lys3791Glu) c.11296A>G (p.Lys3766Glu) c.10996A>G (p.Lys3666Glu) c.8260A>G (p.Lys2754Glu) c.7153A>G (p.Lys2385Glu) c.11179A>G (p.Lys3727Glu) c.6931A>G (p.Lys2311Glu) c.10159A>G (p.Lys3387Glu) | |
8 | g.99868372A>T | CA371792045 | VPS13B | c.*468A>T (n.*468A>T) n.11444A>T c.*7056A>T (n.*7056A>T) c.11299A>T (p.Lys3767Ter) c.11374A>T (p.Lys3792Ter) n.316A>T c.11371A>T (p.Lys3791Ter) c.11296A>T (p.Lys3766Ter) c.10996A>T (p.Lys3666Ter) c.8260A>T (p.Lys2754Ter) c.7153A>T (p.Lys2385Ter) c.11179A>T (p.Lys3727Ter) c.6931A>T (p.Lys2311Ter) c.10159A>T (p.Lys3387Ter) | |
8 | g.99868373A>C | CA371792047 | VPS13B | c.*469A>C (n.*469A>C) n.11445A>C c.*7057A>C (n.*7057A>C) c.11300A>C (p.Lys3767Thr) c.11375A>C (p.Lys3792Thr) n.317A>C c.11372A>C (p.Lys3791Thr) c.11297A>C (p.Lys3766Thr) c.10997A>C (p.Lys3666Thr) c.8261A>C (p.Lys2754Thr) c.7154A>C (p.Lys2385Thr) c.11180A>C (p.Lys3727Thr) c.6932A>C (p.Lys2311Thr) c.10160A>C (p.Lys3387Thr) | |
8 | g.99868373A>G | CA371792048 | VPS13B | c.*469A>G (n.*469A>G) n.11445A>G c.*7057A>G (n.*7057A>G) c.11300A>G (p.Lys3767Arg) c.11375A>G (p.Lys3792Arg) n.317A>G c.11372A>G (p.Lys3791Arg) c.11297A>G (p.Lys3766Arg) c.10997A>G (p.Lys3666Arg) c.8261A>G (p.Lys2754Arg) c.7154A>G (p.Lys2385Arg) c.11180A>G (p.Lys3727Arg) c.6932A>G (p.Lys2311Arg) c.10160A>G (p.Lys3387Arg) | |
8 | g.99868373A>T | CA371792049 | VPS13B | c.*469A>T (n.*469A>T) n.11445A>T c.*7057A>T (n.*7057A>T) c.11300A>T (p.Lys3767Met) c.11375A>T (p.Lys3792Met) n.317A>T c.11372A>T (p.Lys3791Met) c.11297A>T (p.Lys3766Met) c.10997A>T (p.Lys3666Met) c.8261A>T (p.Lys2754Met) c.7154A>T (p.Lys2385Met) c.11180A>T (p.Lys3727Met) c.6932A>T (p.Lys2311Met) c.10160A>T (p.Lys3387Met) | |
8 | g.99868374G>A | CA462339273 | VPS13B | c.*470G>A (n.*470G>A) n.11446G>A c.*7058G>A (n.*7058G>A) c.11301G>A (p.Lys3767=) c.11376G>A (p.Lys3792=) n.318G>A c.11373G>A (p.Lys3791=) c.11298G>A (p.Lys3766=) c.10998G>A (p.Lys3666=) c.8262G>A (p.Lys2754=) c.7155G>A (p.Lys2385=) c.11181G>A (p.Lys3727=) c.6933G>A (p.Lys2311=) c.10161G>A (p.Lys3387=) | dbSNP |
8 | g.99868374G>C | CA371792052 | VPS13B | c.*470G>C (n.*470G>C) n.11446G>C c.*7058G>C (n.*7058G>C) c.11301G>C (p.Lys3767Asn) c.11376G>C (p.Lys3792Asn) n.318G>C c.11373G>C (p.Lys3791Asn) c.11298G>C (p.Lys3766Asn) c.10998G>C (p.Lys3666Asn) c.8262G>C (p.Lys2754Asn) c.7155G>C (p.Lys2385Asn) c.11181G>C (p.Lys3727Asn) c.6933G>C (p.Lys2311Asn) c.10161G>C (p.Lys3387Asn) | |
8 | g.99868374G>T | CA371792054 | VPS13B | c.*470G>T (n.*470G>T) n.11446G>T c.*7058G>T (n.*7058G>T) c.11301G>T (p.Lys3767Asn) c.11376G>T (p.Lys3792Asn) n.318G>T c.11373G>T (p.Lys3791Asn) c.11298G>T (p.Lys3766Asn) c.10998G>T (p.Lys3666Asn) c.8262G>T (p.Lys2754Asn) c.7155G>T (p.Lys2385Asn) c.11181G>T (p.Lys3727Asn) c.6933G>T (p.Lys2311Asn) c.10161G>T (p.Lys3387Asn) | |
8 | g.99868375G>A | CA371792058 | VPS13B | c.*471G>A (n.*471G>A) n.11447G>A c.*7059G>A (n.*7059G>A) c.11302G>A (p.Gly3768Ser) c.11377G>A (p.Gly3793Ser) n.319G>A c.11374G>A (p.Gly3792Ser) c.11299G>A (p.Gly3767Ser) c.10999G>A (p.Gly3667Ser) c.8263G>A (p.Gly2755Ser) c.7156G>A (p.Gly2386Ser) c.11182G>A (p.Gly3728Ser) c.6934G>A (p.Gly2312Ser) c.10162G>A (p.Gly3388Ser) | gnomAD v4 |
8 | g.99868375G>C | CA4825204 | VPS13B | c.*471G>C (n.*471G>C) n.11447G>C c.*7059G>C (n.*7059G>C) c.11302G>C (p.Gly3768Arg) c.11377G>C (p.Gly3793Arg) n.319G>C c.11374G>C (p.Gly3792Arg) c.11299G>C (p.Gly3767Arg) c.10999G>C (p.Gly3667Arg) c.8263G>C (p.Gly2755Arg) c.7156G>C (p.Gly2386Arg) c.11182G>C (p.Gly3728Arg) c.6934G>C (p.Gly2312Arg) c.10162G>C (p.Gly3388Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868375G>T | CA371792055 | VPS13B | c.*471G>T (n.*471G>T) n.11447G>T c.*7059G>T (n.*7059G>T) c.11302G>T (p.Gly3768Cys) c.11377G>T (p.Gly3793Cys) n.319G>T c.11374G>T (p.Gly3792Cys) c.11299G>T (p.Gly3767Cys) c.10999G>T (p.Gly3667Cys) c.8263G>T (p.Gly2755Cys) c.7156G>T (p.Gly2386Cys) c.11182G>T (p.Gly3728Cys) c.6934G>T (p.Gly2312Cys) c.10162G>T (p.Gly3388Cys) | dbSNP COSMIC COSMIC |
8 | g.99868376G>A | CA371792060 | VPS13B | c.*472G>A (n.*472G>A) n.11448G>A c.*7060G>A (n.*7060G>A) c.11303G>A (p.Gly3768Asp) c.11378G>A (p.Gly3793Asp) n.320G>A c.11375G>A (p.Gly3792Asp) c.11300G>A (p.Gly3767Asp) c.11000G>A (p.Gly3667Asp) c.8264G>A (p.Gly2755Asp) c.7157G>A (p.Gly2386Asp) c.11183G>A (p.Gly3728Asp) c.6935G>A (p.Gly2312Asp) c.10163G>A (p.Gly3388Asp) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868376G>C | CA371792062 | VPS13B | c.*472G>C (n.*472G>C) n.11448G>C c.*7060G>C (n.*7060G>C) c.11303G>C (p.Gly3768Ala) c.11378G>C (p.Gly3793Ala) n.320G>C c.11375G>C (p.Gly3792Ala) c.11300G>C (p.Gly3767Ala) c.11000G>C (p.Gly3667Ala) c.8264G>C (p.Gly2755Ala) c.7157G>C (p.Gly2386Ala) c.11183G>C (p.Gly3728Ala) c.6935G>C (p.Gly2312Ala) c.10163G>C (p.Gly3388Ala) | |
8 | g.99868376G>T | CA371792063 | VPS13B | c.*472G>T (n.*472G>T) n.11448G>T c.*7060G>T (n.*7060G>T) c.11303G>T (p.Gly3768Val) c.11378G>T (p.Gly3793Val) n.320G>T c.11375G>T (p.Gly3792Val) c.11300G>T (p.Gly3767Val) c.11000G>T (p.Gly3667Val) c.8264G>T (p.Gly2755Val) c.7157G>T (p.Gly2386Val) c.11183G>T (p.Gly3728Val) c.6935G>T (p.Gly2312Val) c.10163G>T (p.Gly3388Val) | |
8 | g.99868377T>A | CA462339284 | VPS13B | c.*473T>A (n.*473T>A) n.11449T>A c.*7061T>A (n.*7061T>A) c.11304T>A (p.Gly3768=) c.11379T>A (p.Gly3793=) n.321T>A c.11376T>A (p.Gly3792=) c.11301T>A (p.Gly3767=) c.11001T>A (p.Gly3667=) c.8265T>A (p.Gly2755=) c.7158T>A (p.Gly2386=) c.11184T>A (p.Gly3728=) c.6936T>A (p.Gly2312=) c.10164T>A (p.Gly3388=) | |
8 | g.99868377T>C | CA462339285 | VPS13B | c.*473T>C (n.*473T>C) n.11449T>C c.*7061T>C (n.*7061T>C) c.11304T>C (p.Gly3768=) c.11379T>C (p.Gly3793=) n.321T>C c.11376T>C (p.Gly3792=) c.11301T>C (p.Gly3767=) c.11001T>C (p.Gly3667=) c.8265T>C (p.Gly2755=) c.7158T>C (p.Gly2386=) c.11184T>C (p.Gly3728=) c.6936T>C (p.Gly2312=) c.10164T>C (p.Gly3388=) | |
8 | g.99868377T>G | CA462339287 | VPS13B | c.*473T>G (n.*473T>G) n.11449T>G c.*7061T>G (n.*7061T>G) c.11304T>G (p.Gly3768=) c.11379T>G (p.Gly3793=) n.321T>G c.11376T>G (p.Gly3792=) c.11301T>G (p.Gly3767=) c.11001T>G (p.Gly3667=) c.8265T>G (p.Gly2755=) c.7158T>G (p.Gly2386=) c.11184T>G (p.Gly3728=) c.6936T>G (p.Gly2312=) c.10164T>G (p.Gly3388=) | dbSNP |
8 | g.99868378G>A | CA371792066 | VPS13B | c.*474G>A (n.*474G>A) n.11450G>A c.*7062G>A (n.*7062G>A) c.11305G>A (p.Val3769Ile) c.11380G>A (p.Val3794Ile) n.322G>A c.11377G>A (p.Val3793Ile) c.11302G>A (p.Val3768Ile) c.11002G>A (p.Val3668Ile) c.8266G>A (p.Val2756Ile) c.7159G>A (p.Val2387Ile) c.11185G>A (p.Val3729Ile) c.6937G>A (p.Val2313Ile) c.10165G>A (p.Val3389Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868378G>C | CA371792067 | VPS13B | c.*474G>C (n.*474G>C) n.11450G>C c.*7062G>C (n.*7062G>C) c.11305G>C (p.Val3769Leu) c.11380G>C (p.Val3794Leu) n.322G>C c.11377G>C (p.Val3793Leu) c.11302G>C (p.Val3768Leu) c.11002G>C (p.Val3668Leu) c.8266G>C (p.Val2756Leu) c.7159G>C (p.Val2387Leu) c.11185G>C (p.Val3729Leu) c.6937G>C (p.Val2313Leu) c.10165G>C (p.Val3389Leu) | |
8 | g.99868378G>T | CA371792069 | VPS13B | c.*474G>T (n.*474G>T) n.11450G>T c.*7062G>T (n.*7062G>T) c.11305G>T (p.Val3769Phe) c.11380G>T (p.Val3794Phe) n.322G>T c.11377G>T (p.Val3793Phe) c.11302G>T (p.Val3768Phe) c.11002G>T (p.Val3668Phe) c.8266G>T (p.Val2756Phe) c.7159G>T (p.Val2387Phe) c.11185G>T (p.Val3729Phe) c.6937G>T (p.Val2313Phe) c.10165G>T (p.Val3389Phe) | |
8 | g.99868379T>A | CA371792070 | VPS13B | c.*475T>A (n.*475T>A) n.11451T>A c.*7063T>A (n.*7063T>A) c.11306T>A (p.Val3769Asp) c.11381T>A (p.Val3794Asp) n.323T>A c.11378T>A (p.Val3793Asp) c.11303T>A (p.Val3768Asp) c.11003T>A (p.Val3668Asp) c.8267T>A (p.Val2756Asp) c.7160T>A (p.Val2387Asp) c.11186T>A (p.Val3729Asp) c.6938T>A (p.Val2313Asp) c.10166T>A (p.Val3389Asp) | |
8 | g.99868379T>C | CA371792071 | VPS13B | c.*475T>C (n.*475T>C) n.11451T>C c.*7063T>C (n.*7063T>C) c.11306T>C (p.Val3769Ala) c.11381T>C (p.Val3794Ala) n.323T>C c.11378T>C (p.Val3793Ala) c.11303T>C (p.Val3768Ala) c.11003T>C (p.Val3668Ala) c.8267T>C (p.Val2756Ala) c.7160T>C (p.Val2387Ala) c.11186T>C (p.Val3729Ala) c.6938T>C (p.Val2313Ala) c.10166T>C (p.Val3389Ala) | |
8 | g.99868379T>G | CA371792072 | VPS13B | c.*475T>G (n.*475T>G) n.11451T>G c.*7063T>G (n.*7063T>G) c.11306T>G (p.Val3769Gly) c.11381T>G (p.Val3794Gly) n.323T>G c.11378T>G (p.Val3793Gly) c.11303T>G (p.Val3768Gly) c.11003T>G (p.Val3668Gly) c.8267T>G (p.Val2756Gly) c.7160T>G (p.Val2387Gly) c.11186T>G (p.Val3729Gly) c.6938T>G (p.Val2313Gly) c.10166T>G (p.Val3389Gly) | |
8 | g.99868380C>A | CA462339294 | VPS13B | c.*476C>A (n.*476C>A) n.11452C>A c.*7064C>A (n.*7064C>A) c.11307C>A (p.Val3769=) c.11382C>A (p.Val3794=) n.324C>A c.11379C>A (p.Val3793=) c.11304C>A (p.Val3768=) c.11004C>A (p.Val3668=) c.8268C>A (p.Val2756=) c.7161C>A (p.Val2387=) c.11187C>A (p.Val3729=) c.6939C>A (p.Val2313=) c.10167C>A (p.Val3389=) | |
8 | g.99868380C>G | CA462339295 | VPS13B | c.*476C>G (n.*476C>G) n.11452C>G c.*7064C>G (n.*7064C>G) c.11307C>G (p.Val3769=) c.11382C>G (p.Val3794=) n.324C>G c.11379C>G (p.Val3793=) c.11304C>G (p.Val3768=) c.11004C>G (p.Val3668=) c.8268C>G (p.Val2756=) c.7161C>G (p.Val2387=) c.11187C>G (p.Val3729=) c.6939C>G (p.Val2313=) c.10167C>G (p.Val3389=) | |
8 | g.99868380C>T | CA462339296 | VPS13B | c.*476C>T (n.*476C>T) n.11452C>T c.*7064C>T (n.*7064C>T) c.11307C>T (p.Val3769=) c.11382C>T (p.Val3794=) n.324C>T c.11379C>T (p.Val3793=) c.11304C>T (p.Val3768=) c.11004C>T (p.Val3668=) c.8268C>T (p.Val2756=) c.7161C>T (p.Val2387=) c.11187C>T (p.Val3729=) c.6939C>T (p.Val2313=) c.10167C>T (p.Val3389=) | ClinVar dbSNP gnomAD v4 |
8 | g.99868381A>C | CA371792076 | VPS13B | c.*477A>C (n.*477A>C) n.11453A>C c.*7065A>C (n.*7065A>C) c.11308A>C (p.Ile3770Leu) c.11383A>C (p.Ile3795Leu) n.325A>C c.11380A>C (p.Ile3794Leu) c.11305A>C (p.Ile3769Leu) c.11005A>C (p.Ile3669Leu) c.8269A>C (p.Ile2757Leu) c.7162A>C (p.Ile2388Leu) c.11188A>C (p.Ile3730Leu) c.6940A>C (p.Ile2314Leu) c.10168A>C (p.Ile3390Leu) | |
8 | g.99868381A>G | CA371792077 | VPS13B | c.*477A>G (n.*477A>G) n.11453A>G c.*7065A>G (n.*7065A>G) c.11308A>G (p.Ile3770Val) c.11383A>G (p.Ile3795Val) n.325A>G c.11380A>G (p.Ile3794Val) c.11305A>G (p.Ile3769Val) c.11005A>G (p.Ile3669Val) c.8269A>G (p.Ile2757Val) c.7162A>G (p.Ile2388Val) c.11188A>G (p.Ile3730Val) c.6940A>G (p.Ile2314Val) c.10168A>G (p.Ile3390Val) | |
8 | g.99868381A>T | CA371792079 | VPS13B | c.*477A>T (n.*477A>T) n.11453A>T c.*7065A>T (n.*7065A>T) c.11308A>T (p.Ile3770Phe) c.11383A>T (p.Ile3795Phe) n.325A>T c.11380A>T (p.Ile3794Phe) c.11305A>T (p.Ile3769Phe) c.11005A>T (p.Ile3669Phe) c.8269A>T (p.Ile2757Phe) c.7162A>T (p.Ile2388Phe) c.11188A>T (p.Ile3730Phe) c.6940A>T (p.Ile2314Phe) c.10168A>T (p.Ile3390Phe) | gnomAD v4 |
8 | g.99868382T>A | CA371792083 | VPS13B | c.*478T>A (n.*478T>A) n.11454T>A c.*7066T>A (n.*7066T>A) c.11309T>A (p.Ile3770Asn) c.11384T>A (p.Ile3795Asn) n.326T>A c.11381T>A (p.Ile3794Asn) c.11306T>A (p.Ile3769Asn) c.11006T>A (p.Ile3669Asn) c.8270T>A (p.Ile2757Asn) c.7163T>A (p.Ile2388Asn) c.11189T>A (p.Ile3730Asn) c.6941T>A (p.Ile2314Asn) c.10169T>A (p.Ile3390Asn) | |
8 | g.99868382T>C | CA371792085 | VPS13B | c.*478T>C (n.*478T>C) n.11454T>C c.*7066T>C (n.*7066T>C) c.11309T>C (p.Ile3770Thr) c.11384T>C (p.Ile3795Thr) n.326T>C c.11381T>C (p.Ile3794Thr) c.11306T>C (p.Ile3769Thr) c.11006T>C (p.Ile3669Thr) c.8270T>C (p.Ile2757Thr) c.7163T>C (p.Ile2388Thr) c.11189T>C (p.Ile3730Thr) c.6941T>C (p.Ile2314Thr) c.10169T>C (p.Ile3390Thr) | dbSNP |
8 | g.99868382T>G | CA371792082 | VPS13B | c.*478T>G (n.*478T>G) n.11454T>G c.*7066T>G (n.*7066T>G) c.11309T>G (p.Ile3770Ser) c.11384T>G (p.Ile3795Ser) n.326T>G c.11381T>G (p.Ile3794Ser) c.11306T>G (p.Ile3769Ser) c.11006T>G (p.Ile3669Ser) c.8270T>G (p.Ile2757Ser) c.7163T>G (p.Ile2388Ser) c.11189T>G (p.Ile3730Ser) c.6941T>G (p.Ile2314Ser) c.10169T>G (p.Ile3390Ser) | |
8 | g.99868383C>A | CA462339301 | VPS13B | c.*479C>A (n.*479C>A) n.11455C>A c.*7067C>A (n.*7067C>A) c.11310C>A (p.Ile3770=) c.11385C>A (p.Ile3795=) n.327C>A c.11382C>A (p.Ile3794=) c.11307C>A (p.Ile3769=) c.11007C>A (p.Ile3669=) c.8271C>A (p.Ile2757=) c.7164C>A (p.Ile2388=) c.11190C>A (p.Ile3730=) c.6942C>A (p.Ile2314=) c.10170C>A (p.Ile3390=) | |
8 | g.99868383C>G | CA371792088 | VPS13B | c.*479C>G (n.*479C>G) n.11455C>G c.*7067C>G (n.*7067C>G) c.11310C>G (p.Ile3770Met) c.11385C>G (p.Ile3795Met) n.327C>G c.11382C>G (p.Ile3794Met) c.11307C>G (p.Ile3769Met) c.11007C>G (p.Ile3669Met) c.8271C>G (p.Ile2757Met) c.7164C>G (p.Ile2388Met) c.11190C>G (p.Ile3730Met) c.6942C>G (p.Ile2314Met) c.10170C>G (p.Ile3390Met) | |
8 | g.99868383C>T | CA462339302 | VPS13B | c.*479C>T (n.*479C>T) n.11455C>T c.*7067C>T (n.*7067C>T) c.11310C>T (p.Ile3770=) c.11385C>T (p.Ile3795=) n.327C>T c.11382C>T (p.Ile3794=) c.11307C>T (p.Ile3769=) c.11007C>T (p.Ile3669=) c.8271C>T (p.Ile2757=) c.7164C>T (p.Ile2388=) c.11190C>T (p.Ile3730=) c.6942C>T (p.Ile2314=) c.10170C>T (p.Ile3390=) | |
8 | g.99868384T>A | CA371792090 | VPS13B | c.*480T>A (n.*480T>A) n.11456T>A c.*7068T>A (n.*7068T>A) c.11311T>A (p.Ser3771Thr) c.11386T>A (p.Ser3796Thr) n.328T>A c.11383T>A (p.Ser3795Thr) c.11308T>A (p.Ser3770Thr) c.11008T>A (p.Ser3670Thr) c.8272T>A (p.Ser2758Thr) c.7165T>A (p.Ser2389Thr) c.11191T>A (p.Ser3731Thr) c.6943T>A (p.Ser2315Thr) c.10171T>A (p.Ser3391Thr) | |
8 | g.99868384T>C | CA371792091 | VPS13B | c.*480T>C (n.*480T>C) n.11456T>C c.*7068T>C (n.*7068T>C) c.11311T>C (p.Ser3771Pro) c.11386T>C (p.Ser3796Pro) n.328T>C c.11383T>C (p.Ser3795Pro) c.11308T>C (p.Ser3770Pro) c.11008T>C (p.Ser3670Pro) c.8272T>C (p.Ser2758Pro) c.7165T>C (p.Ser2389Pro) c.11191T>C (p.Ser3731Pro) c.6943T>C (p.Ser2315Pro) c.10171T>C (p.Ser3391Pro) | |
8 | g.99868384T>G | CA371792092 | VPS13B | c.*480T>G (n.*480T>G) n.11456T>G c.*7068T>G (n.*7068T>G) c.11311T>G (p.Ser3771Ala) c.11386T>G (p.Ser3796Ala) n.328T>G c.11383T>G (p.Ser3795Ala) c.11308T>G (p.Ser3770Ala) c.11008T>G (p.Ser3670Ala) c.8272T>G (p.Ser2758Ala) c.7165T>G (p.Ser2389Ala) c.11191T>G (p.Ser3731Ala) c.6943T>G (p.Ser2315Ala) c.10171T>G (p.Ser3391Ala) | |
8 | g.99868385C>A | CA371792093 | VPS13B | c.*481C>A (n.*481C>A) n.11457C>A c.*7069C>A (n.*7069C>A) c.11312C>A (p.Ser3771Ter) c.11387C>A (p.Ser3796Ter) n.329C>A c.11384C>A (p.Ser3795Ter) c.11309C>A (p.Ser3770Ter) c.11009C>A (p.Ser3670Ter) c.8273C>A (p.Ser2758Ter) c.7166C>A (p.Ser2389Ter) c.11192C>A (p.Ser3731Ter) c.6944C>A (p.Ser2315Ter) c.10172C>A (p.Ser3391Ter) | gnomAD v4 |
8 | g.99868385C>G | CA371792094 | VPS13B | c.*481C>G (n.*481C>G) n.11457C>G c.*7069C>G (n.*7069C>G) c.11312C>G (p.Ser3771Trp) c.11387C>G (p.Ser3796Trp) n.329C>G c.11384C>G (p.Ser3795Trp) c.11309C>G (p.Ser3770Trp) c.11009C>G (p.Ser3670Trp) c.8273C>G (p.Ser2758Trp) c.7166C>G (p.Ser2389Trp) c.11192C>G (p.Ser3731Trp) c.6944C>G (p.Ser2315Trp) c.10172C>G (p.Ser3391Trp) | |
8 | g.99868385C>T | CA4825205 | VPS13B | c.*481C>T (n.*481C>T) n.11457C>T c.*7069C>T (n.*7069C>T) c.11312C>T (p.Ser3771Leu) c.11387C>T (p.Ser3796Leu) n.329C>T c.11384C>T (p.Ser3795Leu) c.11309C>T (p.Ser3770Leu) c.11009C>T (p.Ser3670Leu) c.8273C>T (p.Ser2758Leu) c.7166C>T (p.Ser2389Leu) c.11192C>T (p.Ser3731Leu) c.6944C>T (p.Ser2315Leu) c.10172C>T (p.Ser3391Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868386G>A | CA4825206 | VPS13B | c.*482G>A (n.*482G>A) n.11458G>A c.*7070G>A (n.*7070G>A) c.11313G>A (p.Ser3771=) c.11388G>A (p.Ser3796=) n.330G>A c.11385G>A (p.Ser3795=) c.11310G>A (p.Ser3770=) c.11010G>A (p.Ser3670=) c.8274G>A (p.Ser2758=) c.7167G>A (p.Ser2389=) c.11193G>A (p.Ser3731=) c.6945G>A (p.Ser2315=) c.10173G>A (p.Ser3391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868386G>C | CA462339308 | VPS13B | c.*482G>C (n.*482G>C) n.11458G>C c.*7070G>C (n.*7070G>C) c.11313G>C (p.Ser3771=) c.11388G>C (p.Ser3796=) n.330G>C c.11385G>C (p.Ser3795=) c.11310G>C (p.Ser3770=) c.11010G>C (p.Ser3670=) c.8274G>C (p.Ser2758=) c.7167G>C (p.Ser2389=) c.11193G>C (p.Ser3731=) c.6945G>C (p.Ser2315=) c.10173G>C (p.Ser3391=) | |
8 | g.99868386G>T | CA462339310 | VPS13B | c.*482G>T (n.*482G>T) n.11458G>T c.*7070G>T (n.*7070G>T) c.11313G>T (p.Ser3771=) c.11388G>T (p.Ser3796=) n.330G>T c.11385G>T (p.Ser3795=) c.11310G>T (p.Ser3770=) c.11010G>T (p.Ser3670=) c.8274G>T (p.Ser2758=) c.7167G>T (p.Ser2389=) c.11193G>T (p.Ser3731=) c.6945G>T (p.Ser2315=) c.10173G>T (p.Ser3391=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.99868388del | CA2697550080 | VPS13B | c.*484del (n.*484del) n.11460del c.*7072del (n.*7072del) c.11315del (p.Gly3772ValfsTer?) c.11390del (p.Gly3797ValfsTer?) n.332del c.11387del (p.Gly3796ValfsTer?) c.11312del (p.Gly3771ValfsTer?) c.11012del (p.Gly3671ValfsTer?) c.8276del (p.Gly2759ValfsTer?) c.7169del (p.Gly2390ValfsTer?) c.11195del (p.Gly3732ValfsTer?) c.6947del (p.Gly2316ValfsTer?) c.10175del (p.Gly3392ValfsTer?) | ClinVar |
8 | g.99868387G>A | CA371792096 | VPS13B | c.*483G>A (n.*483G>A) n.11459G>A c.*7071G>A (n.*7071G>A) c.11314G>A (p.Gly3772Ser) c.11389G>A (p.Gly3797Ser) n.331G>A c.11386G>A (p.Gly3796Ser) c.11311G>A (p.Gly3771Ser) c.11011G>A (p.Gly3671Ser) c.8275G>A (p.Gly2759Ser) c.7168G>A (p.Gly2390Ser) c.11194G>A (p.Gly3732Ser) c.6946G>A (p.Gly2316Ser) c.10174G>A (p.Gly3392Ser) | ClinVar |
8 | g.99868387G>C | CA371792098 | VPS13B | c.*483G>C (n.*483G>C) n.11459G>C c.*7071G>C (n.*7071G>C) c.11314G>C (p.Gly3772Arg) c.11389G>C (p.Gly3797Arg) n.331G>C c.11386G>C (p.Gly3796Arg) c.11311G>C (p.Gly3771Arg) c.11011G>C (p.Gly3671Arg) c.8275G>C (p.Gly2759Arg) c.7168G>C (p.Gly2390Arg) c.11194G>C (p.Gly3732Arg) c.6946G>C (p.Gly2316Arg) c.10174G>C (p.Gly3392Arg) | |
8 | g.99868387G>T | CA371792099 | VPS13B | c.*483G>T (n.*483G>T) n.11459G>T c.*7071G>T (n.*7071G>T) c.11314G>T (p.Gly3772Cys) c.11389G>T (p.Gly3797Cys) n.331G>T c.11386G>T (p.Gly3796Cys) c.11311G>T (p.Gly3771Cys) c.11011G>T (p.Gly3671Cys) c.8275G>T (p.Gly2759Cys) c.7168G>T (p.Gly2390Cys) c.11194G>T (p.Gly3732Cys) c.6946G>T (p.Gly2316Cys) c.10174G>T (p.Gly3392Cys) | |
8 | g.99868388G>A | CA371792102 | VPS13B | c.*484G>A (n.*484G>A) n.11460G>A c.*7072G>A (n.*7072G>A) c.11315G>A (p.Gly3772Asp) c.11390G>A (p.Gly3797Asp) n.332G>A c.11387G>A (p.Gly3796Asp) c.11312G>A (p.Gly3771Asp) c.11012G>A (p.Gly3671Asp) c.8276G>A (p.Gly2759Asp) c.7169G>A (p.Gly2390Asp) c.11195G>A (p.Gly3732Asp) c.6947G>A (p.Gly2316Asp) c.10175G>A (p.Gly3392Asp) | |
8 | g.99868388G>C | CA371792104 | VPS13B | c.*484G>C (n.*484G>C) n.11460G>C c.*7072G>C (n.*7072G>C) c.11315G>C (p.Gly3772Ala) c.11390G>C (p.Gly3797Ala) n.332G>C c.11387G>C (p.Gly3796Ala) c.11312G>C (p.Gly3771Ala) c.11012G>C (p.Gly3671Ala) c.8276G>C (p.Gly2759Ala) c.7169G>C (p.Gly2390Ala) c.11195G>C (p.Gly3732Ala) c.6947G>C (p.Gly2316Ala) c.10175G>C (p.Gly3392Ala) | ClinVar |
8 | g.99868388G>T | CA371792105 | VPS13B | c.*484G>T (n.*484G>T) n.11460G>T c.*7072G>T (n.*7072G>T) c.11315G>T (p.Gly3772Val) c.11390G>T (p.Gly3797Val) n.332G>T c.11387G>T (p.Gly3796Val) c.11312G>T (p.Gly3771Val) c.11012G>T (p.Gly3671Val) c.8276G>T (p.Gly2759Val) c.7169G>T (p.Gly2390Val) c.11195G>T (p.Gly3732Val) c.6947G>T (p.Gly2316Val) c.10175G>T (p.Gly3392Val) | |
8 | g.99868389T>A | CA462339315 | VPS13B | c.*485T>A (n.*485T>A) n.11461T>A c.*7073T>A (n.*7073T>A) c.11316T>A (p.Gly3772=) c.11391T>A (p.Gly3797=) n.333T>A c.11388T>A (p.Gly3796=) c.11313T>A (p.Gly3771=) c.11013T>A (p.Gly3671=) c.8277T>A (p.Gly2759=) c.7170T>A (p.Gly2390=) c.11196T>A (p.Gly3732=) c.6948T>A (p.Gly2316=) c.10176T>A (p.Gly3392=) | |
8 | g.99868389T>C | CA4825207 | VPS13B | c.*485T>C (n.*485T>C) n.11461T>C c.*7073T>C (n.*7073T>C) c.11316T>C (p.Gly3772=) c.11391T>C (p.Gly3797=) n.333T>C c.11388T>C (p.Gly3796=) c.11313T>C (p.Gly3771=) c.11013T>C (p.Gly3671=) c.8277T>C (p.Gly2759=) c.7170T>C (p.Gly2390=) c.11196T>C (p.Gly3732=) c.6948T>C (p.Gly2316=) c.10176T>C (p.Gly3392=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868389T>G | CA462339320 | VPS13B | c.*485T>G (n.*485T>G) n.11461T>G c.*7073T>G (n.*7073T>G) c.11316T>G (p.Gly3772=) c.11391T>G (p.Gly3797=) n.333T>G c.11388T>G (p.Gly3796=) c.11313T>G (p.Gly3771=) c.11013T>G (p.Gly3671=) c.8277T>G (p.Gly2759=) c.7170T>G (p.Gly2390=) c.11196T>G (p.Gly3732=) c.6948T>G (p.Gly2316=) c.10176T>G (p.Gly3392=) | ClinVar dbSNP |
8 | g.99868390G>A | CA4825208 | VPS13B | c.*486G>A (n.*486G>A) n.11462G>A c.*7074G>A (n.*7074G>A) c.11317G>A (p.Val3773Met) c.11392G>A (p.Val3798Met) n.334G>A c.11389G>A (p.Val3797Met) c.11314G>A (p.Val3772Met) c.11014G>A (p.Val3672Met) c.8278G>A (p.Val2760Met) c.7171G>A (p.Val2391Met) c.11197G>A (p.Val3733Met) c.6949G>A (p.Val2317Met) c.10177G>A (p.Val3393Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868390G>C | CA371792110 | VPS13B | c.*486G>C (n.*486G>C) n.11462G>C c.*7074G>C (n.*7074G>C) c.11317G>C (p.Val3773Leu) c.11392G>C (p.Val3798Leu) n.334G>C c.11389G>C (p.Val3797Leu) c.11314G>C (p.Val3772Leu) c.11014G>C (p.Val3672Leu) c.8278G>C (p.Val2760Leu) c.7171G>C (p.Val2391Leu) c.11197G>C (p.Val3733Leu) c.6949G>C (p.Val2317Leu) c.10177G>C (p.Val3393Leu) | |
8 | g.99868390G>T | CA371792111 | VPS13B | c.*486G>T (n.*486G>T) n.11462G>T c.*7074G>T (n.*7074G>T) c.11317G>T (p.Val3773Leu) c.11392G>T (p.Val3798Leu) n.334G>T c.11389G>T (p.Val3797Leu) c.11314G>T (p.Val3772Leu) c.11014G>T (p.Val3672Leu) c.8278G>T (p.Val2760Leu) c.7171G>T (p.Val2391Leu) c.11197G>T (p.Val3733Leu) c.6949G>T (p.Val2317Leu) c.10177G>T (p.Val3393Leu) | |
8 | g.99868391T>A | CA371792114 | VPS13B | c.*487T>A (n.*487T>A) n.11463T>A c.*7075T>A (n.*7075T>A) c.11318T>A (p.Val3773Glu) c.11393T>A (p.Val3798Glu) n.335T>A c.11390T>A (p.Val3797Glu) c.11315T>A (p.Val3772Glu) c.11015T>A (p.Val3672Glu) c.8279T>A (p.Val2760Glu) c.7172T>A (p.Val2391Glu) c.11198T>A (p.Val3733Glu) c.6950T>A (p.Val2317Glu) c.10178T>A (p.Val3393Glu) | |
8 | g.99868391T>C | CA4825209 | VPS13B | c.*487T>C (n.*487T>C) n.11463T>C c.*7075T>C (n.*7075T>C) c.11318T>C (p.Val3773Ala) c.11393T>C (p.Val3798Ala) n.335T>C c.11390T>C (p.Val3797Ala) c.11315T>C (p.Val3772Ala) c.11015T>C (p.Val3672Ala) c.8279T>C (p.Val2760Ala) c.7172T>C (p.Val2391Ala) c.11198T>C (p.Val3733Ala) c.6950T>C (p.Val2317Ala) c.10178T>C (p.Val3393Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.99868391T>G | CA371792117 | VPS13B | c.*487T>G (n.*487T>G) n.11463T>G c.*7075T>G (n.*7075T>G) c.11318T>G (p.Val3773Gly) c.11393T>G (p.Val3798Gly) n.335T>G c.11390T>G (p.Val3797Gly) c.11315T>G (p.Val3772Gly) c.11015T>G (p.Val3672Gly) c.8279T>G (p.Val2760Gly) c.7172T>G (p.Val2391Gly) c.11198T>G (p.Val3733Gly) c.6950T>G (p.Val2317Gly) c.10178T>G (p.Val3393Gly) | |
8 | g.99868392G>A | CA462339323 | VPS13B | c.*488G>A (n.*488G>A) n.11464G>A c.*7076G>A (n.*7076G>A) c.11319G>A (p.Val3773=) c.11394G>A (p.Val3798=) n.336G>A c.11391G>A (p.Val3797=) c.11316G>A (p.Val3772=) c.11016G>A (p.Val3672=) c.8280G>A (p.Val2760=) c.7173G>A (p.Val2391=) c.11199G>A (p.Val3733=) c.6951G>A (p.Val2317=) c.10179G>A (p.Val3393=) | ClinVar |
8 | g.99868392G>C | CA462339324 | VPS13B | c.*488G>C (n.*488G>C) n.11464G>C c.*7076G>C (n.*7076G>C) c.11319G>C (p.Val3773=) c.11394G>C (p.Val3798=) n.336G>C c.11391G>C (p.Val3797=) c.11316G>C (p.Val3772=) c.11016G>C (p.Val3672=) c.8280G>C (p.Val2760=) c.7173G>C (p.Val2391=) c.11199G>C (p.Val3733=) c.6951G>C (p.Val2317=) c.10179G>C (p.Val3393=) | |
8 | g.99868392G>T | CA462339325 | VPS13B | c.*488G>T (n.*488G>T) n.11464G>T c.*7076G>T (n.*7076G>T) c.11319G>T (p.Val3773=) c.11394G>T (p.Val3798=) n.336G>T c.11391G>T (p.Val3797=) c.11316G>T (p.Val3772=) c.11016G>T (p.Val3672=) c.8280G>T (p.Val2760=) c.7173G>T (p.Val2391=) c.11199G>T (p.Val3733=) c.6951G>T (p.Val2317=) c.10179G>T (p.Val3393=) | |
8 | g.99868393G>A | CA371792120 | VPS13B | c.*489G>A (n.*489G>A) n.11465G>A c.*7077G>A (n.*7077G>A) c.11320G>A (p.Gly3774Arg) c.11395G>A (p.Gly3799Arg) n.337G>A c.11392G>A (p.Gly3798Arg) c.11317G>A (p.Gly3773Arg) c.11017G>A (p.Gly3673Arg) c.8281G>A (p.Gly2761Arg) c.7174G>A (p.Gly2392Arg) c.11200G>A (p.Gly3734Arg) c.6952G>A (p.Gly2318Arg) c.10180G>A (p.Gly3394Arg) | |
8 | g.99868393G>C | CA371792123 | VPS13B | c.*489G>C (n.*489G>C) n.11465G>C c.*7077G>C (n.*7077G>C) c.11320G>C (p.Gly3774Arg) c.11395G>C (p.Gly3799Arg) n.337G>C c.11392G>C (p.Gly3798Arg) c.11317G>C (p.Gly3773Arg) c.11017G>C (p.Gly3673Arg) c.8281G>C (p.Gly2761Arg) c.7174G>C (p.Gly2392Arg) c.11200G>C (p.Gly3734Arg) c.6952G>C (p.Gly2318Arg) c.10180G>C (p.Gly3394Arg) | |
8 | g.99868393G>T | CA371792126 | VPS13B | c.*489G>T (n.*489G>T) n.11465G>T c.*7077G>T (n.*7077G>T) c.11320G>T (p.Gly3774Trp) c.11395G>T (p.Gly3799Trp) n.337G>T c.11392G>T (p.Gly3798Trp) c.11317G>T (p.Gly3773Trp) c.11017G>T (p.Gly3673Trp) c.8281G>T (p.Gly2761Trp) c.7174G>T (p.Gly2392Trp) c.11200G>T (p.Gly3734Trp) c.6952G>T (p.Gly2318Trp) c.10180G>T (p.Gly3394Trp) | |
8 | g.99868394G>A | CA371792130 | VPS13B | c.*490G>A (n.*490G>A) n.11466G>A c.*7078G>A (n.*7078G>A) c.11321G>A (p.Gly3774Glu) c.11396G>A (p.Gly3799Glu) n.338G>A c.11393G>A (p.Gly3798Glu) c.11318G>A (p.Gly3773Glu) c.11018G>A (p.Gly3673Glu) c.8282G>A (p.Gly2761Glu) c.7175G>A (p.Gly2392Glu) c.11201G>A (p.Gly3734Glu) c.6953G>A (p.Gly2318Glu) c.10181G>A (p.Gly3394Glu) | gnomAD v4 |
8 | g.99868394G>C | CA371792133 | VPS13B | c.*490G>C (n.*490G>C) n.11466G>C c.*7078G>C (n.*7078G>C) c.11321G>C (p.Gly3774Ala) c.11396G>C (p.Gly3799Ala) n.338G>C c.11393G>C (p.Gly3798Ala) c.11318G>C (p.Gly3773Ala) c.11018G>C (p.Gly3673Ala) c.8282G>C (p.Gly2761Ala) c.7175G>C (p.Gly2392Ala) c.11201G>C (p.Gly3734Ala) c.6953G>C (p.Gly2318Ala) c.10181G>C (p.Gly3394Ala) | |
8 | g.99868394G>T | CA371792135 | VPS13B | c.*490G>T (n.*490G>T) n.11466G>T c.*7078G>T (n.*7078G>T) c.11321G>T (p.Gly3774Val) c.11396G>T (p.Gly3799Val) n.338G>T c.11393G>T (p.Gly3798Val) c.11318G>T (p.Gly3773Val) c.11018G>T (p.Gly3673Val) c.8282G>T (p.Gly2761Val) c.7175G>T (p.Gly2392Val) c.11201G>T (p.Gly3734Val) c.6953G>T (p.Gly2318Val) c.10181G>T (p.Gly3394Val) | |
8 | g.99868395G>A | CA462339329 | VPS13B | c.*491G>A (n.*491G>A) n.11467G>A c.*7079G>A (n.*7079G>A) c.11322G>A (p.Gly3774=) c.11397G>A (p.Gly3799=) n.339G>A c.11394G>A (p.Gly3798=) c.11319G>A (p.Gly3773=) c.11019G>A (p.Gly3673=) c.8283G>A (p.Gly2761=) c.7176G>A (p.Gly2392=) c.11202G>A (p.Gly3734=) c.6954G>A (p.Gly2318=) c.10182G>A (p.Gly3394=) | ClinVar dbSNP |
8 | g.99868395G>C | CA462339332 | VPS13B | c.*491G>C (n.*491G>C) n.11467G>C c.*7079G>C (n.*7079G>C) c.11322G>C (p.Gly3774=) c.11397G>C (p.Gly3799=) n.339G>C c.11394G>C (p.Gly3798=) c.11319G>C (p.Gly3773=) c.11019G>C (p.Gly3673=) c.8283G>C (p.Gly2761=) c.7176G>C (p.Gly2392=) c.11202G>C (p.Gly3734=) c.6954G>C (p.Gly2318=) c.10182G>C (p.Gly3394=) | |
8 | g.99868395G>T | CA462339327 | VPS13B | c.*491G>T (n.*491G>T) n.11467G>T c.*7079G>T (n.*7079G>T) c.11322G>T (p.Gly3774=) c.11397G>T (p.Gly3799=) n.339G>T c.11394G>T (p.Gly3798=) c.11319G>T (p.Gly3773=) c.11019G>T (p.Gly3673=) c.8283G>T (p.Gly2761=) c.7176G>T (p.Gly2392=) c.11202G>T (p.Gly3734=) c.6954G>T (p.Gly2318=) c.10182G>T (p.Gly3394=) | gnomAD v4 |
8 | g.99868396A>C | CA371792139 | VPS13B | c.*492A>C (n.*492A>C) n.11468A>C c.*7080A>C (n.*7080A>C) c.11323A>C (p.Lys3775Gln) c.11398A>C (p.Lys3800Gln) n.340A>C c.11395A>C (p.Lys3799Gln) c.11320A>C (p.Lys3774Gln) c.11020A>C (p.Lys3674Gln) c.8284A>C (p.Lys2762Gln) c.7177A>C (p.Lys2393Gln) c.11203A>C (p.Lys3735Gln) c.6955A>C (p.Lys2319Gln) c.10183A>C (p.Lys3395Gln) | |
8 | g.99868396A>G | CA371792140 | VPS13B | c.*492A>G (n.*492A>G) n.11468A>G c.*7080A>G (n.*7080A>G) c.11323A>G (p.Lys3775Glu) c.11398A>G (p.Lys3800Glu) n.340A>G c.11395A>G (p.Lys3799Glu) c.11320A>G (p.Lys3774Glu) c.11020A>G (p.Lys3674Glu) c.8284A>G (p.Lys2762Glu) c.7177A>G (p.Lys2393Glu) c.11203A>G (p.Lys3735Glu) c.6955A>G (p.Lys2319Glu) c.10183A>G (p.Lys3395Glu) | |
8 | g.99868396A>T | CA371792141 | VPS13B | c.*492A>T (n.*492A>T) n.11468A>T c.*7080A>T (n.*7080A>T) c.11323A>T (p.Lys3775Ter) c.11398A>T (p.Lys3800Ter) n.340A>T c.11395A>T (p.Lys3799Ter) c.11320A>T (p.Lys3774Ter) c.11020A>T (p.Lys3674Ter) c.8284A>T (p.Lys2762Ter) c.7177A>T (p.Lys2393Ter) c.11203A>T (p.Lys3735Ter) c.6955A>T (p.Lys2319Ter) c.10183A>T (p.Lys3395Ter) | |
8 | g.99868397A>C | CA371792144 | VPS13B | c.*493A>C (n.*493A>C) n.11469A>C c.*7081A>C (n.*7081A>C) c.11324A>C (p.Lys3775Thr) c.11399A>C (p.Lys3800Thr) n.341A>C c.11396A>C (p.Lys3799Thr) c.11321A>C (p.Lys3774Thr) c.11021A>C (p.Lys3674Thr) c.8285A>C (p.Lys2762Thr) c.7178A>C (p.Lys2393Thr) c.11204A>C (p.Lys3735Thr) c.6956A>C (p.Lys2319Thr) c.10184A>C (p.Lys3395Thr) | |
8 | g.99868397A>G | CA371792145 | VPS13B | c.*493A>G (n.*493A>G) n.11469A>G c.*7081A>G (n.*7081A>G) c.11324A>G (p.Lys3775Arg) c.11399A>G (p.Lys3800Arg) n.341A>G c.11396A>G (p.Lys3799Arg) c.11321A>G (p.Lys3774Arg) c.11021A>G (p.Lys3674Arg) c.8285A>G (p.Lys2762Arg) c.7178A>G (p.Lys2393Arg) c.11204A>G (p.Lys3735Arg) c.6956A>G (p.Lys2319Arg) c.10184A>G (p.Lys3395Arg) | gnomAD v4 |
8 | g.99868397A>T | CA371792142 | VPS13B | c.*493A>T (n.*493A>T) n.11469A>T c.*7081A>T (n.*7081A>T) c.11324A>T (p.Lys3775Ile) c.11399A>T (p.Lys3800Ile) n.341A>T c.11396A>T (p.Lys3799Ile) c.11321A>T (p.Lys3774Ile) c.11021A>T (p.Lys3674Ile) c.8285A>T (p.Lys2762Ile) c.7178A>T (p.Lys2393Ile) c.11204A>T (p.Lys3735Ile) c.6956A>T (p.Lys2319Ile) c.10184A>T (p.Lys3395Ile) | |
8 | g.99868398A>C | CA371792147 | VPS13B | c.*494A>C (n.*494A>C) n.11470A>C c.*7082A>C (n.*7082A>C) c.11325A>C (p.Lys3775Asn) c.11400A>C (p.Lys3800Asn) n.342A>C c.11397A>C (p.Lys3799Asn) c.11322A>C (p.Lys3774Asn) c.11022A>C (p.Lys3674Asn) c.8286A>C (p.Lys2762Asn) c.7179A>C (p.Lys2393Asn) c.11205A>C (p.Lys3735Asn) c.6957A>C (p.Lys2319Asn) c.10185A>C (p.Lys3395Asn) | |
8 | g.99868398A>G | CA462339334 | VPS13B | c.*494A>G (n.*494A>G) n.11470A>G c.*7082A>G (n.*7082A>G) c.11325A>G (p.Lys3775=) c.11400A>G (p.Lys3800=) n.342A>G c.11397A>G (p.Lys3799=) c.11322A>G (p.Lys3774=) c.11022A>G (p.Lys3674=) c.8286A>G (p.Lys2762=) c.7179A>G (p.Lys2393=) c.11205A>G (p.Lys3735=) c.6957A>G (p.Lys2319=) c.10185A>G (p.Lys3395=) | ClinVar dbSNP gnomAD v4 |
8 | g.99868398A>T | CA371792146 | VPS13B | c.*494A>T (n.*494A>T) n.11470A>T c.*7082A>T (n.*7082A>T) c.11325A>T (p.Lys3775Asn) c.11400A>T (p.Lys3800Asn) n.342A>T c.11397A>T (p.Lys3799Asn) c.11322A>T (p.Lys3774Asn) c.11022A>T (p.Lys3674Asn) c.8286A>T (p.Lys2762Asn) c.7179A>T (p.Lys2393Asn) c.11205A>T (p.Lys3735Asn) c.6957A>T (p.Lys2319Asn) c.10185A>T (p.Lys3395Asn) | |
8 | g.99868399G>A | CA371792150 | VPS13B | c.*495G>A (n.*495G>A) n.11471G>A c.*7083G>A (n.*7083G>A) c.11326G>A (p.Gly3776Arg) c.11401G>A (p.Gly3801Arg) n.343G>A c.11398G>A (p.Gly3800Arg) c.11323G>A (p.Gly3775Arg) c.11023G>A (p.Gly3675Arg) c.8287G>A (p.Gly2763Arg) c.7180G>A (p.Gly2394Arg) c.11206G>A (p.Gly3736Arg) c.6958G>A (p.Gly2320Arg) c.10186G>A (p.Gly3396Arg) | gnomAD v4 |
8 | g.99868399G>C | CA371792148 | VPS13B | c.*495G>C (n.*495G>C) n.11471G>C c.*7083G>C (n.*7083G>C) c.11326G>C (p.Gly3776Arg) c.11401G>C (p.Gly3801Arg) n.343G>C c.11398G>C (p.Gly3800Arg) c.11323G>C (p.Gly3775Arg) c.11023G>C (p.Gly3675Arg) c.8287G>C (p.Gly2763Arg) c.7180G>C (p.Gly2394Arg) c.11206G>C (p.Gly3736Arg) c.6958G>C (p.Gly2320Arg) c.10186G>C (p.Gly3396Arg) | |
8 | g.99868399G>T | CA371792149 | VPS13B | c.*495G>T (n.*495G>T) n.11471G>T c.*7083G>T (n.*7083G>T) c.11326G>T (p.Gly3776Ter) c.11401G>T (p.Gly3801Ter) n.343G>T c.11398G>T (p.Gly3800Ter) c.11323G>T (p.Gly3775Ter) c.11023G>T (p.Gly3675Ter) c.8287G>T (p.Gly2763Ter) c.7180G>T (p.Gly2394Ter) c.11206G>T (p.Gly3736Ter) c.6958G>T (p.Gly2320Ter) c.10186G>T (p.Gly3396Ter) | |
8 | g.99868400G>A | CA371792151 | VPS13B | c.*496G>A (n.*496G>A) n.11472G>A c.*7084G>A (n.*7084G>A) c.11327G>A (p.Gly3776Glu) c.11402G>A (p.Gly3801Glu) n.344G>A c.11399G>A (p.Gly3800Glu) c.11324G>A (p.Gly3775Glu) c.11024G>A (p.Gly3675Glu) c.8288G>A (p.Gly2763Glu) c.7181G>A (p.Gly2394Glu) c.11207G>A (p.Gly3736Glu) c.6959G>A (p.Gly2320Glu) c.10187G>A (p.Gly3396Glu) | ClinVar |
8 | g.99868400G>C | CA371792154 | VPS13B | c.*496G>C (n.*496G>C) n.11472G>C c.*7084G>C (n.*7084G>C) c.11327G>C (p.Gly3776Ala) c.11402G>C (p.Gly3801Ala) n.344G>C c.11399G>C (p.Gly3800Ala) c.11324G>C (p.Gly3775Ala) c.11024G>C (p.Gly3675Ala) c.8288G>C (p.Gly2763Ala) c.7181G>C (p.Gly2394Ala) c.11207G>C (p.Gly3736Ala) c.6959G>C (p.Gly2320Ala) c.10187G>C (p.Gly3396Ala) | gnomAD v4 |
8 | g.99868400G>T | CA371792157 | VPS13B | c.*496G>T (n.*496G>T) n.11472G>T c.*7084G>T (n.*7084G>T) c.11327G>T (p.Gly3776Val) c.11402G>T (p.Gly3801Val) n.344G>T c.11399G>T (p.Gly3800Val) c.11324G>T (p.Gly3775Val) c.11024G>T (p.Gly3675Val) c.8288G>T (p.Gly2763Val) c.7181G>T (p.Gly2394Val) c.11207G>T (p.Gly3736Val) c.6959G>T (p.Gly2320Val) c.10187G>T (p.Gly3396Val) | gnomAD v4 |
8 | g.99868401A>C | CA462339339 | VPS13B | c.*497A>C (n.*497A>C) n.11473A>C c.*7085A>C (n.*7085A>C) c.11328A>C (p.Gly3776=) c.11403A>C (p.Gly3801=) n.345A>C c.11400A>C (p.Gly3800=) c.11325A>C (p.Gly3775=) c.11025A>C (p.Gly3675=) c.8289A>C (p.Gly2763=) c.7182A>C (p.Gly2394=) c.11208A>C (p.Gly3736=) c.6960A>C (p.Gly2320=) c.10188A>C (p.Gly3396=) | gnomAD v4 |
8 | g.99868401A>G | CA462339337 | VPS13B | c.*497A>G (n.*497A>G) n.11473A>G c.*7085A>G (n.*7085A>G) c.11328A>G (p.Gly3776=) c.11403A>G (p.Gly3801=) n.345A>G c.11400A>G (p.Gly3800=) c.11325A>G (p.Gly3775=) c.11025A>G (p.Gly3675=) c.8289A>G (p.Gly2763=) c.7182A>G (p.Gly2394=) c.11208A>G (p.Gly3736=) c.6960A>G (p.Gly2320=) c.10188A>G (p.Gly3396=) | |
8 | g.99868401A>T | CA462339335 | VPS13B | c.*497A>T (n.*497A>T) n.11473A>T c.*7085A>T (n.*7085A>T) c.11328A>T (p.Gly3776=) c.11403A>T (p.Gly3801=) n.345A>T c.11400A>T (p.Gly3800=) c.11325A>T (p.Gly3775=) c.11025A>T (p.Gly3675=) c.8289A>T (p.Gly2763=) c.7182A>T (p.Gly2394=) c.11208A>T (p.Gly3736=) c.6960A>T (p.Gly2320=) c.10188A>T (p.Gly3396=) | |
8 | g.99868402A>C | CA371792158 | VPS13B | c.*498A>C (n.*498A>C) n.11474A>C c.*7086A>C (n.*7086A>C) c.11329A>C (p.Ile3777Leu) c.11404A>C (p.Ile3802Leu) n.346A>C c.11401A>C (p.Ile3801Leu) c.11326A>C (p.Ile3776Leu) c.11026A>C (p.Ile3676Leu) c.8290A>C (p.Ile2764Leu) c.7183A>C (p.Ile2395Leu) c.11209A>C (p.Ile3737Leu) c.6961A>C (p.Ile2321Leu) c.10189A>C (p.Ile3397Leu) | |
8 | g.99868402A>G | CA371792159 | VPS13B | c.*498A>G (n.*498A>G) n.11474A>G c.*7086A>G (n.*7086A>G) c.11329A>G (p.Ile3777Val) c.11404A>G (p.Ile3802Val) n.346A>G c.11401A>G (p.Ile3801Val) c.11326A>G (p.Ile3776Val) c.11026A>G (p.Ile3676Val) c.8290A>G (p.Ile2764Val) c.7183A>G (p.Ile2395Val) c.11209A>G (p.Ile3737Val) c.6961A>G (p.Ile2321Val) c.10189A>G (p.Ile3397Val) | |
8 | g.99868402A>T | CA371792160 | VPS13B | c.*498A>T (n.*498A>T) n.11474A>T c.*7086A>T (n.*7086A>T) c.11329A>T (p.Ile3777Phe) c.11404A>T (p.Ile3802Phe) n.346A>T c.11401A>T (p.Ile3801Phe) c.11326A>T (p.Ile3776Phe) c.11026A>T (p.Ile3676Phe) c.8290A>T (p.Ile2764Phe) c.7183A>T (p.Ile2395Phe) c.11209A>T (p.Ile3737Phe) c.6961A>T (p.Ile2321Phe) c.10189A>T (p.Ile3397Phe) | gnomAD v4 |
8 | g.99868403T>A | CA371792161 | VPS13B | c.*499T>A (n.*499T>A) n.11475T>A c.*7087T>A (n.*7087T>A) c.11330T>A (p.Ile3777Asn) c.11405T>A (p.Ile3802Asn) n.347T>A c.11402T>A (p.Ile3801Asn) c.11327T>A (p.Ile3776Asn) c.11027T>A (p.Ile3676Asn) c.8291T>A (p.Ile2764Asn) c.7184T>A (p.Ile2395Asn) c.11210T>A (p.Ile3737Asn) c.6962T>A (p.Ile2321Asn) c.10190T>A (p.Ile3397Asn) | |
8 | g.99868403T>C | CA371792164 | VPS13B | c.*499T>C (n.*499T>C) n.11475T>C c.*7087T>C (n.*7087T>C) c.11330T>C (p.Ile3777Thr) c.11405T>C (p.Ile3802Thr) n.347T>C c.11402T>C (p.Ile3801Thr) c.11327T>C (p.Ile3776Thr) c.11027T>C (p.Ile3676Thr) c.8291T>C (p.Ile2764Thr) c.7184T>C (p.Ile2395Thr) c.11210T>C (p.Ile3737Thr) c.6962T>C (p.Ile2321Thr) c.10190T>C (p.Ile3397Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868403T>G | CA371792162 | VPS13B | c.*499T>G (n.*499T>G) n.11475T>G c.*7087T>G (n.*7087T>G) c.11330T>G (p.Ile3777Ser) c.11405T>G (p.Ile3802Ser) n.347T>G c.11402T>G (p.Ile3801Ser) c.11327T>G (p.Ile3776Ser) c.11027T>G (p.Ile3676Ser) c.8291T>G (p.Ile2764Ser) c.7184T>G (p.Ile2395Ser) c.11210T>G (p.Ile3737Ser) c.6962T>G (p.Ile2321Ser) c.10190T>G (p.Ile3397Ser) | |
8 | g.99868404C>A | CA462339341 | VPS13B | c.*500C>A (n.*500C>A) n.11476C>A c.*7088C>A (n.*7088C>A) c.11331C>A (p.Ile3777=) c.11406C>A (p.Ile3802=) n.348C>A c.11403C>A (p.Ile3801=) c.11328C>A (p.Ile3776=) c.11028C>A (p.Ile3676=) c.8292C>A (p.Ile2764=) c.7185C>A (p.Ile2395=) c.11211C>A (p.Ile3737=) c.6963C>A (p.Ile2321=) c.10191C>A (p.Ile3397=) | |
8 | g.99868404C>G | CA371792166 | VPS13B | c.*500C>G (n.*500C>G) n.11476C>G c.*7088C>G (n.*7088C>G) c.11331C>G (p.Ile3777Met) c.11406C>G (p.Ile3802Met) n.348C>G c.11403C>G (p.Ile3801Met) c.11328C>G (p.Ile3776Met) c.11028C>G (p.Ile3676Met) c.8292C>G (p.Ile2764Met) c.7185C>G (p.Ile2395Met) c.11211C>G (p.Ile3737Met) c.6963C>G (p.Ile2321Met) c.10191C>G (p.Ile3397Met) | |
8 | g.99868404C>T | CA182328687 | VPS13B | c.*500C>T (n.*500C>T) n.11476C>T c.*7088C>T (n.*7088C>T) c.11331C>T (p.Ile3777=) c.11406C>T (p.Ile3802=) n.348C>T c.11403C>T (p.Ile3801=) c.11328C>T (p.Ile3776=) c.11028C>T (p.Ile3676=) c.8292C>T (p.Ile2764=) c.7185C>T (p.Ile2395=) c.11211C>T (p.Ile3737=) c.6963C>T (p.Ile2321=) c.10191C>T (p.Ile3397=) | ClinVar dbSNP gnomAD v4 |
8 | g.99868405A>C | CA371792169 | VPS13B | c.*501A>C (n.*501A>C) n.11477A>C c.*7089A>C (n.*7089A>C) c.11332A>C (p.Met3778Leu) c.11407A>C (p.Met3803Leu) n.349A>C c.11404A>C (p.Met3802Leu) c.11329A>C (p.Met3777Leu) c.11029A>C (p.Met3677Leu) c.8293A>C (p.Met2765Leu) c.7186A>C (p.Met2396Leu) c.11212A>C (p.Met3738Leu) c.6964A>C (p.Met2322Leu) c.10192A>C (p.Met3398Leu) | |
8 | g.99868405A>G | CA371792171 | VPS13B | c.*501A>G (n.*501A>G) n.11477A>G c.*7089A>G (n.*7089A>G) c.11332A>G (p.Met3778Val) c.11407A>G (p.Met3803Val) n.349A>G c.11404A>G (p.Met3802Val) c.11329A>G (p.Met3777Val) c.11029A>G (p.Met3677Val) c.8293A>G (p.Met2765Val) c.7186A>G (p.Met2396Val) c.11212A>G (p.Met3738Val) c.6964A>G (p.Met2322Val) c.10192A>G (p.Met3398Val) | |
8 | g.99868405A>T | CA371792174 | VPS13B | c.*501A>T (n.*501A>T) n.11477A>T c.*7089A>T (n.*7089A>T) c.11332A>T (p.Met3778Leu) c.11407A>T (p.Met3803Leu) n.349A>T c.11404A>T (p.Met3802Leu) c.11329A>T (p.Met3777Leu) c.11029A>T (p.Met3677Leu) c.8293A>T (p.Met2765Leu) c.7186A>T (p.Met2396Leu) c.11212A>T (p.Met3738Leu) c.6964A>T (p.Met2322Leu) c.10192A>T (p.Met3398Leu) | |
8 | g.99868406T>A | CA371792179 | VPS13B | c.*502T>A (n.*502T>A) n.11478T>A c.*7090T>A (n.*7090T>A) c.11333T>A (p.Met3778Lys) c.11408T>A (p.Met3803Lys) n.350T>A c.11405T>A (p.Met3802Lys) c.11330T>A (p.Met3777Lys) c.11030T>A (p.Met3677Lys) c.8294T>A (p.Met2765Lys) c.7187T>A (p.Met2396Lys) c.11213T>A (p.Met3738Lys) c.6965T>A (p.Met2322Lys) c.10193T>A (p.Met3398Lys) | |
8 | g.99868406T>C | CA4825210 | VPS13B | c.*502T>C (n.*502T>C) n.11478T>C c.*7090T>C (n.*7090T>C) c.11333T>C (p.Met3778Thr) c.11408T>C (p.Met3803Thr) n.350T>C c.11405T>C (p.Met3802Thr) c.11330T>C (p.Met3777Thr) c.11030T>C (p.Met3677Thr) c.8294T>C (p.Met2765Thr) c.7187T>C (p.Met2396Thr) c.11213T>C (p.Met3738Thr) c.6965T>C (p.Met2322Thr) c.10193T>C (p.Met3398Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868406T>G | CA371792183 | VPS13B | c.*502T>G (n.*502T>G) n.11478T>G c.*7090T>G (n.*7090T>G) c.11333T>G (p.Met3778Arg) c.11408T>G (p.Met3803Arg) n.350T>G c.11405T>G (p.Met3802Arg) c.11330T>G (p.Met3777Arg) c.11030T>G (p.Met3677Arg) c.8294T>G (p.Met2765Arg) c.7187T>G (p.Met2396Arg) c.11213T>G (p.Met3738Arg) c.6965T>G (p.Met2322Arg) c.10193T>G (p.Met3398Arg) | |
8 | g.99868406dup | CA913128148 | VPS13B | c.*502dup (n.*502dup) n.11478dup c.*7090dup (n.*7090dup) c.11333dup (p.Met3778IlefsTer13) c.11408dup (p.Met3803IlefsTer13) n.350dup c.11405dup (p.Met3802IlefsTer13) c.11330dup (p.Met3777IlefsTer13) c.11030dup (p.Met3677IlefsTer13) c.8294dup (p.Met2765IlefsTer13) c.7187dup (p.Met2396IlefsTer13) c.11213dup (p.Met3738IlefsTer13) c.6965dup (p.Met2322IlefsTer13) c.10193dup (p.Met3398IlefsTer13) | |
8 | g.99868407G>A | CA4825211 | VPS13B | c.*503G>A (n.*503G>A) n.11479G>A c.*7091G>A (n.*7091G>A) c.11334G>A (p.Met3778Ile) c.11409G>A (p.Met3803Ile) n.351G>A c.11406G>A (p.Met3802Ile) c.11331G>A (p.Met3777Ile) c.11031G>A (p.Met3677Ile) c.8295G>A (p.Met2765Ile) c.7188G>A (p.Met2396Ile) c.11214G>A (p.Met3738Ile) c.6966G>A (p.Met2322Ile) c.10194G>A (p.Met3398Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868407G>C | CA371792189 | VPS13B | c.*503G>C (n.*503G>C) n.11479G>C c.*7091G>C (n.*7091G>C) c.11334G>C (p.Met3778Ile) c.11409G>C (p.Met3803Ile) n.351G>C c.11406G>C (p.Met3802Ile) c.11331G>C (p.Met3777Ile) c.11031G>C (p.Met3677Ile) c.8295G>C (p.Met2765Ile) c.7188G>C (p.Met2396Ile) c.11214G>C (p.Met3738Ile) c.6966G>C (p.Met2322Ile) c.10194G>C (p.Met3398Ile) | ClinVar dbSNP |
8 | g.99868407G>T | CA371792192 | VPS13B | c.*503G>T (n.*503G>T) n.11479G>T c.*7091G>T (n.*7091G>T) c.11334G>T (p.Met3778Ile) c.11409G>T (p.Met3803Ile) n.351G>T c.11406G>T (p.Met3802Ile) c.11331G>T (p.Met3777Ile) c.11031G>T (p.Met3677Ile) c.8295G>T (p.Met2765Ile) c.7188G>T (p.Met2396Ile) c.11214G>T (p.Met3738Ile) c.6966G>T (p.Met2322Ile) c.10194G>T (p.Met3398Ile) | |
8 | g.99868411dup | CA658821918 | VPS13B | c.*507dup (n.*507dup) n.11483dup c.*7095dup (n.*7095dup) c.11338dup (p.Val3780GlyfsTer11) c.11413dup (p.Val3805GlyfsTer11) n.355dup c.11410dup (p.Val3804GlyfsTer11) c.11335dup (p.Val3779GlyfsTer11) c.11035dup (p.Val3679GlyfsTer11) c.8299dup (p.Val2767GlyfsTer11) c.7192dup (p.Val2398GlyfsTer11) c.11218dup (p.Val3740GlyfsTer11) c.6970dup (p.Val2324GlyfsTer11) c.10198dup (p.Val3400GlyfsTer11) | ClinVar dbSNP |
8 | g.99868408G>A | CA371792194 | VPS13B | c.*504G>A (n.*504G>A) n.11480G>A c.*7092G>A (n.*7092G>A) c.11335G>A (p.Gly3779Arg) c.11410G>A (p.Gly3804Arg) n.352G>A c.11407G>A (p.Gly3803Arg) c.11332G>A (p.Gly3778Arg) c.11032G>A (p.Gly3678Arg) c.8296G>A (p.Gly2766Arg) c.7189G>A (p.Gly2397Arg) c.11215G>A (p.Gly3739Arg) c.6967G>A (p.Gly2323Arg) c.10195G>A (p.Gly3399Arg) | |
8 | g.99868408G>C | CA371792197 | VPS13B | c.*504G>C (n.*504G>C) n.11480G>C c.*7092G>C (n.*7092G>C) c.11335G>C (p.Gly3779Arg) c.11410G>C (p.Gly3804Arg) n.352G>C c.11407G>C (p.Gly3803Arg) c.11332G>C (p.Gly3778Arg) c.11032G>C (p.Gly3678Arg) c.8296G>C (p.Gly2766Arg) c.7189G>C (p.Gly2397Arg) c.11215G>C (p.Gly3739Arg) c.6967G>C (p.Gly2323Arg) c.10195G>C (p.Gly3399Arg) | |
8 | g.99868408G>T | CA371792199 | VPS13B | c.*504G>T (n.*504G>T) n.11480G>T c.*7092G>T (n.*7092G>T) c.11335G>T (p.Gly3779Trp) c.11410G>T (p.Gly3804Trp) n.352G>T c.11407G>T (p.Gly3803Trp) c.11332G>T (p.Gly3778Trp) c.11032G>T (p.Gly3678Trp) c.8296G>T (p.Gly2766Trp) c.7189G>T (p.Gly2397Trp) c.11215G>T (p.Gly3739Trp) c.6967G>T (p.Gly2323Trp) c.10195G>T (p.Gly3399Trp) | |
8 | g.99868409G>A | CA371792202 | VPS13B | c.*505G>A (n.*505G>A) n.11481G>A c.*7093G>A (n.*7093G>A) c.11336G>A (p.Gly3779Glu) c.11411G>A (p.Gly3804Glu) n.353G>A c.11408G>A (p.Gly3803Glu) c.11333G>A (p.Gly3778Glu) c.11033G>A (p.Gly3678Glu) c.8297G>A (p.Gly2766Glu) c.7190G>A (p.Gly2397Glu) c.11216G>A (p.Gly3739Glu) c.6968G>A (p.Gly2323Glu) c.10196G>A (p.Gly3399Glu) | |
8 | g.99868409G>C | CA371792205 | VPS13B | c.*505G>C (n.*505G>C) n.11481G>C c.*7093G>C (n.*7093G>C) c.11336G>C (p.Gly3779Ala) c.11411G>C (p.Gly3804Ala) n.353G>C c.11408G>C (p.Gly3803Ala) c.11333G>C (p.Gly3778Ala) c.11033G>C (p.Gly3678Ala) c.8297G>C (p.Gly2766Ala) c.7190G>C (p.Gly2397Ala) c.11216G>C (p.Gly3739Ala) c.6968G>C (p.Gly2323Ala) c.10196G>C (p.Gly3399Ala) | ClinVar |
8 | g.99868409G>T | CA371792207 | VPS13B | c.*505G>T (n.*505G>T) n.11481G>T c.*7093G>T (n.*7093G>T) c.11336G>T (p.Gly3779Val) c.11411G>T (p.Gly3804Val) n.353G>T c.11408G>T (p.Gly3803Val) c.11333G>T (p.Gly3778Val) c.11033G>T (p.Gly3678Val) c.8297G>T (p.Gly2766Val) c.7190G>T (p.Gly2397Val) c.11216G>T (p.Gly3739Val) c.6968G>T (p.Gly2323Val) c.10196G>T (p.Gly3399Val) | |
8 | g.99868410G>A | CA462339350 | VPS13B | c.*506G>A (n.*506G>A) n.11482G>A c.*7094G>A (n.*7094G>A) c.11337G>A (p.Gly3779=) c.11412G>A (p.Gly3804=) n.354G>A c.11409G>A (p.Gly3803=) c.11334G>A (p.Gly3778=) c.11034G>A (p.Gly3678=) c.8298G>A (p.Gly2766=) c.7191G>A (p.Gly2397=) c.11217G>A (p.Gly3739=) c.6969G>A (p.Gly2323=) c.10197G>A (p.Gly3399=) | |
8 | g.99868410G>C | CA462339351 | VPS13B | c.*506G>C (n.*506G>C) n.11482G>C c.*7094G>C (n.*7094G>C) c.11337G>C (p.Gly3779=) c.11412G>C (p.Gly3804=) n.354G>C c.11409G>C (p.Gly3803=) c.11334G>C (p.Gly3778=) c.11034G>C (p.Gly3678=) c.8298G>C (p.Gly2766=) c.7191G>C (p.Gly2397=) c.11217G>C (p.Gly3739=) c.6969G>C (p.Gly2323=) c.10197G>C (p.Gly3399=) | ClinVar dbSNP |
8 | g.99868410G>T | CA462339353 | VPS13B | c.*506G>T (n.*506G>T) n.11482G>T c.*7094G>T (n.*7094G>T) c.11337G>T (p.Gly3779=) c.11412G>T (p.Gly3804=) n.354G>T c.11409G>T (p.Gly3803=) c.11334G>T (p.Gly3778=) c.11034G>T (p.Gly3678=) c.8298G>T (p.Gly2766=) c.7191G>T (p.Gly2397=) c.11217G>T (p.Gly3739=) c.6969G>T (p.Gly2323=) c.10197G>T (p.Gly3399=) | gnomAD v4 |
8 | g.99868411G>A | CA371792211 | VPS13B | c.*507G>A (n.*507G>A) n.11483G>A c.*7095G>A (n.*7095G>A) c.11338G>A (p.Val3780Met) c.11413G>A (p.Val3805Met) n.355G>A c.11410G>A (p.Val3804Met) c.11335G>A (p.Val3779Met) c.11035G>A (p.Val3679Met) c.8299G>A (p.Val2767Met) c.7192G>A (p.Val2398Met) c.11218G>A (p.Val3740Met) c.6970G>A (p.Val2324Met) c.10198G>A (p.Val3400Met) | dbSNP |
8 | g.99868411G>C | CA371792214 | VPS13B | c.*507G>C (n.*507G>C) n.11483G>C c.*7095G>C (n.*7095G>C) c.11338G>C (p.Val3780Leu) c.11413G>C (p.Val3805Leu) n.355G>C c.11410G>C (p.Val3804Leu) c.11335G>C (p.Val3779Leu) c.11035G>C (p.Val3679Leu) c.8299G>C (p.Val2767Leu) c.7192G>C (p.Val2398Leu) c.11218G>C (p.Val3740Leu) c.6970G>C (p.Val2324Leu) c.10198G>C (p.Val3400Leu) | |
8 | g.99868411G>T | CA4825212 | VPS13B | c.*507G>T (n.*507G>T) n.11483G>T c.*7095G>T (n.*7095G>T) c.11338G>T (p.Val3780Leu) c.11413G>T (p.Val3805Leu) n.355G>T c.11410G>T (p.Val3804Leu) c.11335G>T (p.Val3779Leu) c.11035G>T (p.Val3679Leu) c.8299G>T (p.Val2767Leu) c.7192G>T (p.Val2398Leu) c.11218G>T (p.Val3740Leu) c.6970G>T (p.Val2324Leu) c.10198G>T (p.Val3400Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868412T>A | CA371792225 | VPS13B | c.*508T>A (n.*508T>A) n.11484T>A c.*7096T>A (n.*7096T>A) c.11339T>A (p.Val3780Glu) c.11414T>A (p.Val3805Glu) n.356T>A c.11411T>A (p.Val3804Glu) c.11336T>A (p.Val3779Glu) c.11036T>A (p.Val3679Glu) c.8300T>A (p.Val2767Glu) c.7193T>A (p.Val2398Glu) c.11219T>A (p.Val3740Glu) c.6971T>A (p.Val2324Glu) c.10199T>A (p.Val3400Glu) | |
8 | g.99868412T>C | CA371792220 | VPS13B | c.*508T>C (n.*508T>C) n.11484T>C c.*7096T>C (n.*7096T>C) c.11339T>C (p.Val3780Ala) c.11414T>C (p.Val3805Ala) n.356T>C c.11411T>C (p.Val3804Ala) c.11336T>C (p.Val3779Ala) c.11036T>C (p.Val3679Ala) c.8300T>C (p.Val2767Ala) c.7193T>C (p.Val2398Ala) c.11219T>C (p.Val3740Ala) c.6971T>C (p.Val2324Ala) c.10199T>C (p.Val3400Ala) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.99868412T>G | CA371792221 | VPS13B | c.*508T>G (n.*508T>G) n.11484T>G c.*7096T>G (n.*7096T>G) c.11339T>G (p.Val3780Gly) c.11414T>G (p.Val3805Gly) n.356T>G c.11411T>G (p.Val3804Gly) c.11336T>G (p.Val3779Gly) c.11036T>G (p.Val3679Gly) c.8300T>G (p.Val2767Gly) c.7193T>G (p.Val2398Gly) c.11219T>G (p.Val3740Gly) c.6971T>G (p.Val2324Gly) c.10199T>G (p.Val3400Gly) | |
8 | g.99868413G>A | CA462339359 | VPS13B | c.*509G>A (n.*509G>A) n.11485G>A c.*7097G>A (n.*7097G>A) c.11340G>A (p.Val3780=) c.11415G>A (p.Val3805=) n.357G>A c.11412G>A (p.Val3804=) c.11337G>A (p.Val3779=) c.11037G>A (p.Val3679=) c.8301G>A (p.Val2767=) c.7194G>A (p.Val2398=) c.11220G>A (p.Val3740=) c.6972G>A (p.Val2324=) c.10200G>A (p.Val3400=) | |
8 | g.99868413G>C | CA462339360 | VPS13B | c.*509G>C (n.*509G>C) n.11485G>C c.*7097G>C (n.*7097G>C) c.11340G>C (p.Val3780=) c.11415G>C (p.Val3805=) n.357G>C c.11412G>C (p.Val3804=) c.11337G>C (p.Val3779=) c.11037G>C (p.Val3679=) c.8301G>C (p.Val2767=) c.7194G>C (p.Val2398=) c.11220G>C (p.Val3740=) c.6972G>C (p.Val2324=) c.10200G>C (p.Val3400=) | |
8 | g.99868413G>T | CA462339361 | VPS13B | c.*509G>T (n.*509G>T) n.11485G>T c.*7097G>T (n.*7097G>T) c.11340G>T (p.Val3780=) c.11415G>T (p.Val3805=) n.357G>T c.11412G>T (p.Val3804=) c.11337G>T (p.Val3779=) c.11037G>T (p.Val3679=) c.8301G>T (p.Val2767=) c.7194G>T (p.Val2398=) c.11220G>T (p.Val3740=) c.6972G>T (p.Val2324=) c.10200G>T (p.Val3400=) | |
8 | g.99868414T>A | CA371792229 | VPS13B | c.*510T>A (n.*510T>A) n.11486T>A c.*7098T>A (n.*7098T>A) c.11341T>A (p.Phe3781Ile) c.11416T>A (p.Phe3806Ile) n.358T>A c.11413T>A (p.Phe3805Ile) c.11338T>A (p.Phe3780Ile) c.11038T>A (p.Phe3680Ile) c.8302T>A (p.Phe2768Ile) c.7195T>A (p.Phe2399Ile) c.11221T>A (p.Phe3741Ile) c.6973T>A (p.Phe2325Ile) c.10201T>A (p.Phe3401Ile) | |
8 | g.99868414T>C | CA371792232 | VPS13B | c.*510T>C (n.*510T>C) n.11486T>C c.*7098T>C (n.*7098T>C) c.11341T>C (p.Phe3781Leu) c.11416T>C (p.Phe3806Leu) n.358T>C c.11413T>C (p.Phe3805Leu) c.11338T>C (p.Phe3780Leu) c.11038T>C (p.Phe3680Leu) c.8302T>C (p.Phe2768Leu) c.7195T>C (p.Phe2399Leu) c.11221T>C (p.Phe3741Leu) c.6973T>C (p.Phe2325Leu) c.10201T>C (p.Phe3401Leu) | gnomAD v4 |
8 | g.99868414T>G | CA371792233 | VPS13B | c.*510T>G (n.*510T>G) n.11486T>G c.*7098T>G (n.*7098T>G) c.11341T>G (p.Phe3781Val) c.11416T>G (p.Phe3806Val) n.358T>G c.11413T>G (p.Phe3805Val) c.11338T>G (p.Phe3780Val) c.11038T>G (p.Phe3680Val) c.8302T>G (p.Phe2768Val) c.7195T>G (p.Phe2399Val) c.11221T>G (p.Phe3741Val) c.6973T>G (p.Phe2325Val) c.10201T>G (p.Phe3401Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868415T>A | CA371792238 | VPS13B | c.*511T>A (n.*511T>A) n.11487T>A c.*7099T>A (n.*7099T>A) c.11342T>A (p.Phe3781Tyr) c.11417T>A (p.Phe3806Tyr) n.359T>A c.11414T>A (p.Phe3805Tyr) c.11339T>A (p.Phe3780Tyr) c.11039T>A (p.Phe3680Tyr) c.8303T>A (p.Phe2768Tyr) c.7196T>A (p.Phe2399Tyr) c.11222T>A (p.Phe3741Tyr) c.6974T>A (p.Phe2325Tyr) c.10202T>A (p.Phe3401Tyr) | |
8 | g.99868415T>C | CA371792240 | VPS13B | c.*511T>C (n.*511T>C) n.11487T>C c.*7099T>C (n.*7099T>C) c.11342T>C (p.Phe3781Ser) c.11417T>C (p.Phe3806Ser) n.359T>C c.11414T>C (p.Phe3805Ser) c.11339T>C (p.Phe3780Ser) c.11039T>C (p.Phe3680Ser) c.8303T>C (p.Phe2768Ser) c.7196T>C (p.Phe2399Ser) c.11222T>C (p.Phe3741Ser) c.6974T>C (p.Phe2325Ser) c.10202T>C (p.Phe3401Ser) | |
8 | g.99868415T>G | CA371792242 | VPS13B | c.*511T>G (n.*511T>G) n.11487T>G c.*7099T>G (n.*7099T>G) c.11342T>G (p.Phe3781Cys) c.11417T>G (p.Phe3806Cys) n.359T>G c.11414T>G (p.Phe3805Cys) c.11339T>G (p.Phe3780Cys) c.11039T>G (p.Phe3680Cys) c.8303T>G (p.Phe2768Cys) c.7196T>G (p.Phe2399Cys) c.11222T>G (p.Phe3741Cys) c.6974T>G (p.Phe2325Cys) c.10202T>G (p.Phe3401Cys) | |
8 | g.99868416C>A | CA371792249 | VPS13B | c.*512C>A (n.*512C>A) n.11488C>A c.*7100C>A (n.*7100C>A) c.11343C>A (p.Phe3781Leu) c.11418C>A (p.Phe3806Leu) n.360C>A c.11415C>A (p.Phe3805Leu) c.11340C>A (p.Phe3780Leu) c.11040C>A (p.Phe3680Leu) c.8304C>A (p.Phe2768Leu) c.7197C>A (p.Phe2399Leu) c.11223C>A (p.Phe3741Leu) c.6975C>A (p.Phe2325Leu) c.10203C>A (p.Phe3401Leu) | |
8 | g.99868416C>G | CA371792246 | VPS13B | c.*512C>G (n.*512C>G) n.11488C>G c.*7100C>G (n.*7100C>G) c.11343C>G (p.Phe3781Leu) c.11418C>G (p.Phe3806Leu) n.360C>G c.11415C>G (p.Phe3805Leu) c.11340C>G (p.Phe3780Leu) c.11040C>G (p.Phe3680Leu) c.8304C>G (p.Phe2768Leu) c.7197C>G (p.Phe2399Leu) c.11223C>G (p.Phe3741Leu) c.6975C>G (p.Phe2325Leu) c.10203C>G (p.Phe3401Leu) | |
8 | g.99868416C>T | CA462339368 | VPS13B | c.*512C>T (n.*512C>T) n.11488C>T c.*7100C>T (n.*7100C>T) c.11343C>T (p.Phe3781=) c.11418C>T (p.Phe3806=) n.360C>T c.11415C>T (p.Phe3805=) c.11340C>T (p.Phe3780=) c.11040C>T (p.Phe3680=) c.8304C>T (p.Phe2768=) c.7197C>T (p.Phe2399=) c.11223C>T (p.Phe3741=) c.6975C>T (p.Phe2325=) c.10203C>T (p.Phe3401=) | |
8 | g.99868417A>C | CA371792252 | VPS13B | c.*513A>C (n.*513A>C) n.11489A>C c.*7101A>C (n.*7101A>C) c.11344A>C (p.Thr3782Pro) c.11419A>C (p.Thr3807Pro) n.361A>C c.11416A>C (p.Thr3806Pro) c.11341A>C (p.Thr3781Pro) c.11041A>C (p.Thr3681Pro) c.8305A>C (p.Thr2769Pro) c.7198A>C (p.Thr2400Pro) c.11224A>C (p.Thr3742Pro) c.6976A>C (p.Thr2326Pro) c.10204A>C (p.Thr3402Pro) | |
8 | g.99868417A>G | CA371792254 | VPS13B | c.*513A>G (n.*513A>G) n.11489A>G c.*7101A>G (n.*7101A>G) c.11344A>G (p.Thr3782Ala) c.11419A>G (p.Thr3807Ala) n.361A>G c.11416A>G (p.Thr3806Ala) c.11341A>G (p.Thr3781Ala) c.11041A>G (p.Thr3681Ala) c.8305A>G (p.Thr2769Ala) c.7198A>G (p.Thr2400Ala) c.11224A>G (p.Thr3742Ala) c.6976A>G (p.Thr2326Ala) c.10204A>G (p.Thr3402Ala) | |
8 | g.99868417A>T | CA371792259 | VPS13B | c.*513A>T (n.*513A>T) n.11489A>T c.*7101A>T (n.*7101A>T) c.11344A>T (p.Thr3782Ser) c.11419A>T (p.Thr3807Ser) n.361A>T c.11416A>T (p.Thr3806Ser) c.11341A>T (p.Thr3781Ser) c.11041A>T (p.Thr3681Ser) c.8305A>T (p.Thr2769Ser) c.7198A>T (p.Thr2400Ser) c.11224A>T (p.Thr3742Ser) c.6976A>T (p.Thr2326Ser) c.10204A>T (p.Thr3402Ser) | |
8 | g.99868418C>A | CA371792262 | VPS13B | c.*514C>A (n.*514C>A) n.11490C>A c.*7102C>A (n.*7102C>A) c.11345C>A (p.Thr3782Lys) c.11420C>A (p.Thr3807Lys) n.362C>A c.11417C>A (p.Thr3806Lys) c.11342C>A (p.Thr3781Lys) c.11042C>A (p.Thr3681Lys) c.8306C>A (p.Thr2769Lys) c.7199C>A (p.Thr2400Lys) c.11225C>A (p.Thr3742Lys) c.6977C>A (p.Thr2326Lys) c.10205C>A (p.Thr3402Lys) | |
8 | g.99868418C>G | CA371792264 | VPS13B | c.*514C>G (n.*514C>G) n.11490C>G c.*7102C>G (n.*7102C>G) c.11345C>G (p.Thr3782Arg) c.11420C>G (p.Thr3807Arg) n.362C>G c.11417C>G (p.Thr3806Arg) c.11342C>G (p.Thr3781Arg) c.11042C>G (p.Thr3681Arg) c.8306C>G (p.Thr2769Arg) c.7199C>G (p.Thr2400Arg) c.11225C>G (p.Thr3742Arg) c.6977C>G (p.Thr2326Arg) c.10205C>G (p.Thr3402Arg) | |
8 | g.99868418C>T | CA371792266 | VPS13B | c.*514C>T (n.*514C>T) n.11490C>T c.*7102C>T (n.*7102C>T) c.11345C>T (p.Thr3782Ile) c.11420C>T (p.Thr3807Ile) n.362C>T c.11417C>T (p.Thr3806Ile) c.11342C>T (p.Thr3781Ile) c.11042C>T (p.Thr3681Ile) c.8306C>T (p.Thr2769Ile) c.7199C>T (p.Thr2400Ile) c.11225C>T (p.Thr3742Ile) c.6977C>T (p.Thr2326Ile) c.10205C>T (p.Thr3402Ile) | |
8 | g.99868419A>C | CA462339377 | VPS13B | c.*515A>C (n.*515A>C) n.11491A>C c.*7103A>C (n.*7103A>C) c.11346A>C (p.Thr3782=) c.11421A>C (p.Thr3807=) n.363A>C c.11418A>C (p.Thr3806=) c.11343A>C (p.Thr3781=) c.11043A>C (p.Thr3681=) c.8307A>C (p.Thr2769=) c.7200A>C (p.Thr2400=) c.11226A>C (p.Thr3742=) c.6978A>C (p.Thr2326=) c.10206A>C (p.Thr3402=) | |
8 | g.99868419A>G | CA462339375 | VPS13B | c.*515A>G (n.*515A>G) n.11491A>G c.*7103A>G (n.*7103A>G) c.11346A>G (p.Thr3782=) c.11421A>G (p.Thr3807=) n.363A>G c.11418A>G (p.Thr3806=) c.11343A>G (p.Thr3781=) c.11043A>G (p.Thr3681=) c.8307A>G (p.Thr2769=) c.7200A>G (p.Thr2400=) c.11226A>G (p.Thr3742=) c.6978A>G (p.Thr2326=) c.10206A>G (p.Thr3402=) | |
8 | g.99868419A>T | CA462339374 | VPS13B | c.*515A>T (n.*515A>T) n.11491A>T c.*7103A>T (n.*7103A>T) c.11346A>T (p.Thr3782=) c.11421A>T (p.Thr3807=) n.363A>T c.11418A>T (p.Thr3806=) c.11343A>T (p.Thr3781=) c.11043A>T (p.Thr3681=) c.8307A>T (p.Thr2769=) c.7200A>T (p.Thr2400=) c.11226A>T (p.Thr3742=) c.6978A>T (p.Thr2326=) c.10206A>T (p.Thr3402=) | |
8 | g.99868420A>C | CA371792270 | VPS13B | c.*516A>C (n.*516A>C) n.11492A>C c.*7104A>C (n.*7104A>C) c.11347A>C (p.Lys3783Gln) c.11422A>C (p.Lys3808Gln) n.364A>C c.11419A>C (p.Lys3807Gln) c.11344A>C (p.Lys3782Gln) c.11044A>C (p.Lys3682Gln) c.8308A>C (p.Lys2770Gln) c.7201A>C (p.Lys2401Gln) c.11227A>C (p.Lys3743Gln) c.6979A>C (p.Lys2327Gln) c.10207A>C (p.Lys3403Gln) | |
8 | g.99868420A>G | CA371792275 | VPS13B | c.*516A>G (n.*516A>G) n.11492A>G c.*7104A>G (n.*7104A>G) c.11347A>G (p.Lys3783Glu) c.11422A>G (p.Lys3808Glu) n.364A>G c.11419A>G (p.Lys3807Glu) c.11344A>G (p.Lys3782Glu) c.11044A>G (p.Lys3682Glu) c.8308A>G (p.Lys2770Glu) c.7201A>G (p.Lys2401Glu) c.11227A>G (p.Lys3743Glu) c.6979A>G (p.Lys2327Glu) c.10207A>G (p.Lys3403Glu) | |
8 | g.99868420A>T | CA371792272 | VPS13B | c.*516A>T (n.*516A>T) n.11492A>T c.*7104A>T (n.*7104A>T) c.11347A>T (p.Lys3783Ter) c.11422A>T (p.Lys3808Ter) n.364A>T c.11419A>T (p.Lys3807Ter) c.11344A>T (p.Lys3782Ter) c.11044A>T (p.Lys3682Ter) c.8308A>T (p.Lys2770Ter) c.7201A>T (p.Lys2401Ter) c.11227A>T (p.Lys3743Ter) c.6979A>T (p.Lys2327Ter) c.10207A>T (p.Lys3403Ter) | |
8 | g.99868421A>C | CA371792279 | VPS13B | c.*517A>C (n.*517A>C) n.11493A>C c.*7105A>C (n.*7105A>C) c.11348A>C (p.Lys3783Thr) c.11423A>C (p.Lys3808Thr) n.365A>C c.11420A>C (p.Lys3807Thr) c.11345A>C (p.Lys3782Thr) c.11045A>C (p.Lys3682Thr) c.8309A>C (p.Lys2770Thr) c.7202A>C (p.Lys2401Thr) c.11228A>C (p.Lys3743Thr) c.6980A>C (p.Lys2327Thr) c.10208A>C (p.Lys3403Thr) | gnomAD v4 |
8 | g.99868421A>G | CA371792281 | VPS13B | c.*517A>G (n.*517A>G) n.11493A>G c.*7105A>G (n.*7105A>G) c.11348A>G (p.Lys3783Arg) c.11423A>G (p.Lys3808Arg) n.365A>G c.11420A>G (p.Lys3807Arg) c.11345A>G (p.Lys3782Arg) c.11045A>G (p.Lys3682Arg) c.8309A>G (p.Lys2770Arg) c.7202A>G (p.Lys2401Arg) c.11228A>G (p.Lys3743Arg) c.6980A>G (p.Lys2327Arg) c.10208A>G (p.Lys3403Arg) | |
8 | g.99868421A>T | CA371792283 | VPS13B | c.*517A>T (n.*517A>T) n.11493A>T c.*7105A>T (n.*7105A>T) c.11348A>T (p.Lys3783Met) c.11423A>T (p.Lys3808Met) n.365A>T c.11420A>T (p.Lys3807Met) c.11345A>T (p.Lys3782Met) c.11045A>T (p.Lys3682Met) c.8309A>T (p.Lys2770Met) c.7202A>T (p.Lys2401Met) c.11228A>T (p.Lys3743Met) c.6980A>T (p.Lys2327Met) c.10208A>T (p.Lys3403Met) | |
8 | g.99868422G>A | CA462339386 | VPS13B | c.*518G>A (n.*518G>A) n.11494G>A c.*7106G>A (n.*7106G>A) c.11349G>A (p.Lys3783=) c.11424G>A (p.Lys3808=) n.366G>A c.11421G>A (p.Lys3807=) c.11346G>A (p.Lys3782=) c.11046G>A (p.Lys3682=) c.8310G>A (p.Lys2770=) c.7203G>A (p.Lys2401=) c.11229G>A (p.Lys3743=) c.6981G>A (p.Lys2327=) c.10209G>A (p.Lys3403=) | |
8 | g.99868422G>C | CA371792287 | VPS13B | c.*518G>C (n.*518G>C) n.11494G>C c.*7106G>C (n.*7106G>C) c.11349G>C (p.Lys3783Asn) c.11424G>C (p.Lys3808Asn) n.366G>C c.11421G>C (p.Lys3807Asn) c.11346G>C (p.Lys3782Asn) c.11046G>C (p.Lys3682Asn) c.8310G>C (p.Lys2770Asn) c.7203G>C (p.Lys2401Asn) c.11229G>C (p.Lys3743Asn) c.6981G>C (p.Lys2327Asn) c.10209G>C (p.Lys3403Asn) | |
8 | g.99868422G>T | CA371792289 | VPS13B | c.*518G>T (n.*518G>T) n.11494G>T c.*7106G>T (n.*7106G>T) c.11349G>T (p.Lys3783Asn) c.11424G>T (p.Lys3808Asn) n.366G>T c.11421G>T (p.Lys3807Asn) c.11346G>T (p.Lys3782Asn) c.11046G>T (p.Lys3682Asn) c.8310G>T (p.Lys2770Asn) c.7203G>T (p.Lys2401Asn) c.11229G>T (p.Lys3743Asn) c.6981G>T (p.Lys2327Asn) c.10209G>T (p.Lys3403Asn) | dbSNP |
8 | g.99868423C>A | CA371792290 | VPS13B | c.*519C>A (n.*519C>A) n.11495C>A c.*7107C>A (n.*7107C>A) c.11350C>A (p.Pro3784Thr) c.11425C>A (p.Pro3809Thr) n.367C>A c.11422C>A (p.Pro3808Thr) c.11347C>A (p.Pro3783Thr) c.11047C>A (p.Pro3683Thr) c.8311C>A (p.Pro2771Thr) c.7204C>A (p.Pro2402Thr) c.11230C>A (p.Pro3744Thr) c.6982C>A (p.Pro2328Thr) c.10210C>A (p.Pro3404Thr) | gnomAD v4 |
8 | g.99868423C>G | CA371792292 | VPS13B | c.*519C>G (n.*519C>G) n.11495C>G c.*7107C>G (n.*7107C>G) c.11350C>G (p.Pro3784Ala) c.11425C>G (p.Pro3809Ala) n.367C>G c.11422C>G (p.Pro3808Ala) c.11347C>G (p.Pro3783Ala) c.11047C>G (p.Pro3683Ala) c.8311C>G (p.Pro2771Ala) c.7204C>G (p.Pro2402Ala) c.11230C>G (p.Pro3744Ala) c.6982C>G (p.Pro2328Ala) c.10210C>G (p.Pro3404Ala) | |
8 | g.99868423C>T | CA371792294 | VPS13B | c.*519C>T (n.*519C>T) n.11495C>T c.*7107C>T (n.*7107C>T) c.11350C>T (p.Pro3784Ser) c.11425C>T (p.Pro3809Ser) n.367C>T c.11422C>T (p.Pro3808Ser) c.11347C>T (p.Pro3783Ser) c.11047C>T (p.Pro3683Ser) c.8311C>T (p.Pro2771Ser) c.7204C>T (p.Pro2402Ser) c.11230C>T (p.Pro3744Ser) c.6982C>T (p.Pro2328Ser) c.10210C>T (p.Pro3404Ser) | |
8 | g.99868425dup | CA2697550081 | VPS13B | c.*521dup (n.*521dup) n.11497dup c.*7109dup (n.*7109dup) c.11352dup (p.Ile3785HisfsTer6) c.11427dup (p.Ile3810HisfsTer6) n.369dup c.11424dup (p.Ile3809HisfsTer6) c.11349dup (p.Ile3784HisfsTer6) c.11049dup (p.Ile3684HisfsTer6) c.8313dup (p.Ile2772HisfsTer6) c.7206dup (p.Ile2403HisfsTer6) c.11232dup (p.Ile3745HisfsTer6) c.6984dup (p.Ile2329HisfsTer6) c.10212dup (p.Ile3405HisfsTer6) | ClinVar |
8 | g.99868424C>A | CA371792296 | VPS13B | c.*520C>A (n.*520C>A) n.11496C>A c.*7108C>A (n.*7108C>A) c.11351C>A (p.Pro3784His) c.11426C>A (p.Pro3809His) n.368C>A c.11423C>A (p.Pro3808His) c.11348C>A (p.Pro3783His) c.11048C>A (p.Pro3683His) c.8312C>A (p.Pro2771His) c.7205C>A (p.Pro2402His) c.11231C>A (p.Pro3744His) c.6983C>A (p.Pro2328His) c.10211C>A (p.Pro3404His) | |
8 | g.99868424C>G | CA371792299 | VPS13B | c.*520C>G (n.*520C>G) n.11496C>G c.*7108C>G (n.*7108C>G) c.11351C>G (p.Pro3784Arg) c.11426C>G (p.Pro3809Arg) n.368C>G c.11423C>G (p.Pro3808Arg) c.11348C>G (p.Pro3783Arg) c.11048C>G (p.Pro3683Arg) c.8312C>G (p.Pro2771Arg) c.7205C>G (p.Pro2402Arg) c.11231C>G (p.Pro3744Arg) c.6983C>G (p.Pro2328Arg) c.10211C>G (p.Pro3404Arg) | |
8 | g.99868424C>T | CA182328694 | VPS13B | c.*520C>T (n.*520C>T) n.11496C>T c.*7108C>T (n.*7108C>T) c.11351C>T (p.Pro3784Leu) c.11426C>T (p.Pro3809Leu) n.368C>T c.11423C>T (p.Pro3808Leu) c.11348C>T (p.Pro3783Leu) c.11048C>T (p.Pro3683Leu) c.8312C>T (p.Pro2771Leu) c.7205C>T (p.Pro2402Leu) c.11231C>T (p.Pro3744Leu) c.6983C>T (p.Pro2328Leu) c.10211C>T (p.Pro3404Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868425C>A | CA462339394 | VPS13B | c.*521C>A (n.*521C>A) n.11497C>A c.*7109C>A (n.*7109C>A) c.11352C>A (p.Pro3784=) c.11427C>A (p.Pro3809=) n.369C>A c.11424C>A (p.Pro3808=) c.11349C>A (p.Pro3783=) c.11049C>A (p.Pro3683=) c.8313C>A (p.Pro2771=) c.7206C>A (p.Pro2402=) c.11232C>A (p.Pro3744=) c.6984C>A (p.Pro2328=) c.10212C>A (p.Pro3404=) | |
8 | g.99868425C>G | CA462339396 | VPS13B | c.*521C>G (n.*521C>G) n.11497C>G c.*7109C>G (n.*7109C>G) c.11352C>G (p.Pro3784=) c.11427C>G (p.Pro3809=) n.369C>G c.11424C>G (p.Pro3808=) c.11349C>G (p.Pro3783=) c.11049C>G (p.Pro3683=) c.8313C>G (p.Pro2771=) c.7206C>G (p.Pro2402=) c.11232C>G (p.Pro3744=) c.6984C>G (p.Pro2328=) c.10212C>G (p.Pro3404=) | |
8 | g.99868425C>T | CA462339397 | VPS13B | c.*521C>T (n.*521C>T) n.11497C>T c.*7109C>T (n.*7109C>T) c.11352C>T (p.Pro3784=) c.11427C>T (p.Pro3809=) n.369C>T c.11424C>T (p.Pro3808=) c.11349C>T (p.Pro3783=) c.11049C>T (p.Pro3683=) c.8313C>T (p.Pro2771=) c.7206C>T (p.Pro2402=) c.11232C>T (p.Pro3744=) c.6984C>T (p.Pro2328=) c.10212C>T (p.Pro3404=) | |
8 | g.99868426A>C | CA371792305 | VPS13B | c.*522A>C (n.*522A>C) n.11498A>C c.*7110A>C (n.*7110A>C) c.11353A>C (p.Ile3785Leu) c.11428A>C (p.Ile3810Leu) n.370A>C c.11425A>C (p.Ile3809Leu) c.11350A>C (p.Ile3784Leu) c.11050A>C (p.Ile3684Leu) c.8314A>C (p.Ile2772Leu) c.7207A>C (p.Ile2403Leu) c.11233A>C (p.Ile3745Leu) c.6985A>C (p.Ile2329Leu) c.10213A>C (p.Ile3405Leu) | |
8 | g.99868426A>G | CA371792310 | VPS13B | c.*522A>G (n.*522A>G) n.11498A>G c.*7110A>G (n.*7110A>G) c.11353A>G (p.Ile3785Val) c.11428A>G (p.Ile3810Val) n.370A>G c.11425A>G (p.Ile3809Val) c.11350A>G (p.Ile3784Val) c.11050A>G (p.Ile3684Val) c.8314A>G (p.Ile2772Val) c.7207A>G (p.Ile2403Val) c.11233A>G (p.Ile3745Val) c.6985A>G (p.Ile2329Val) c.10213A>G (p.Ile3405Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868426A>T | CA371792307 | VPS13B | c.*522A>T (n.*522A>T) n.11498A>T c.*7110A>T (n.*7110A>T) c.11353A>T (p.Ile3785Phe) c.11428A>T (p.Ile3810Phe) n.370A>T c.11425A>T (p.Ile3809Phe) c.11350A>T (p.Ile3784Phe) c.11050A>T (p.Ile3684Phe) c.8314A>T (p.Ile2772Phe) c.7207A>T (p.Ile2403Phe) c.11233A>T (p.Ile3745Phe) c.6985A>T (p.Ile2329Phe) c.10213A>T (p.Ile3405Phe) | |
8 | g.99868427T>A | CA371792312 | VPS13B | c.*523T>A (n.*523T>A) n.11499T>A c.*7111T>A (n.*7111T>A) c.11354T>A (p.Ile3785Asn) c.11429T>A (p.Ile3810Asn) n.371T>A c.11426T>A (p.Ile3809Asn) c.11351T>A (p.Ile3784Asn) c.11051T>A (p.Ile3684Asn) c.8315T>A (p.Ile2772Asn) c.7208T>A (p.Ile2403Asn) c.11234T>A (p.Ile3745Asn) c.6986T>A (p.Ile2329Asn) c.10214T>A (p.Ile3405Asn) | |
8 | g.99868427T>C | CA371792316 | VPS13B | c.*523T>C (n.*523T>C) n.11499T>C c.*7111T>C (n.*7111T>C) c.11354T>C (p.Ile3785Thr) c.11429T>C (p.Ile3810Thr) n.371T>C c.11426T>C (p.Ile3809Thr) c.11351T>C (p.Ile3784Thr) c.11051T>C (p.Ile3684Thr) c.8315T>C (p.Ile2772Thr) c.7208T>C (p.Ile2403Thr) c.11234T>C (p.Ile3745Thr) c.6986T>C (p.Ile2329Thr) c.10214T>C (p.Ile3405Thr) | gnomAD v4 |
8 | g.99868427T>G | CA371792314 | VPS13B | c.*523T>G (n.*523T>G) n.11499T>G c.*7111T>G (n.*7111T>G) c.11354T>G (p.Ile3785Ser) c.11429T>G (p.Ile3810Ser) n.371T>G c.11426T>G (p.Ile3809Ser) c.11351T>G (p.Ile3784Ser) c.11051T>G (p.Ile3684Ser) c.8315T>G (p.Ile2772Ser) c.7208T>G (p.Ile2403Ser) c.11234T>G (p.Ile3745Ser) c.6986T>G (p.Ile2329Ser) c.10214T>G (p.Ile3405Ser) | |
8 | g.99868428C>A | CA462339401 | VPS13B | c.*524C>A (n.*524C>A) n.11500C>A c.*7112C>A (n.*7112C>A) c.11355C>A (p.Ile3785=) c.11430C>A (p.Ile3810=) n.372C>A c.11427C>A (p.Ile3809=) c.11352C>A (p.Ile3784=) c.11052C>A (p.Ile3684=) c.8316C>A (p.Ile2772=) c.7209C>A (p.Ile2403=) c.11235C>A (p.Ile3745=) c.6987C>A (p.Ile2329=) c.10215C>A (p.Ile3405=) | ClinVar |
8 | g.99868428C>G | CA371792320 | VPS13B | c.*524C>G (n.*524C>G) n.11500C>G c.*7112C>G (n.*7112C>G) c.11355C>G (p.Ile3785Met) c.11430C>G (p.Ile3810Met) n.372C>G c.11427C>G (p.Ile3809Met) c.11352C>G (p.Ile3784Met) c.11052C>G (p.Ile3684Met) c.8316C>G (p.Ile2772Met) c.7209C>G (p.Ile2403Met) c.11235C>G (p.Ile3745Met) c.6987C>G (p.Ile2329Met) c.10215C>G (p.Ile3405Met) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868428C>T | CA182328695 | VPS13B | c.*524C>T (n.*524C>T) n.11500C>T c.*7112C>T (n.*7112C>T) c.11355C>T (p.Ile3785=) c.11430C>T (p.Ile3810=) n.372C>T c.11427C>T (p.Ile3809=) c.11352C>T (p.Ile3784=) c.11052C>T (p.Ile3684=) c.8316C>T (p.Ile2772=) c.7209C>T (p.Ile2403=) c.11235C>T (p.Ile3745=) c.6987C>T (p.Ile2329=) c.10215C>T (p.Ile3405=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868429G>A | CA4825213 | VPS13B | c.*525G>A (n.*525G>A) n.11501G>A c.*7113G>A (n.*7113G>A) c.11356G>A (p.Gly3786Arg) c.11431G>A (p.Gly3811Arg) n.373G>A c.11428G>A (p.Gly3810Arg) c.11353G>A (p.Gly3785Arg) c.11053G>A (p.Gly3685Arg) c.8317G>A (p.Gly2773Arg) c.7210G>A (p.Gly2404Arg) c.11236G>A (p.Gly3746Arg) c.6988G>A (p.Gly2330Arg) c.10216G>A (p.Gly3406Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868429G>C | CA371792326 | VPS13B | c.*525G>C (n.*525G>C) n.11501G>C c.*7113G>C (n.*7113G>C) c.11356G>C (p.Gly3786Arg) c.11431G>C (p.Gly3811Arg) n.373G>C c.11428G>C (p.Gly3810Arg) c.11353G>C (p.Gly3785Arg) c.11053G>C (p.Gly3685Arg) c.8317G>C (p.Gly2773Arg) c.7210G>C (p.Gly2404Arg) c.11236G>C (p.Gly3746Arg) c.6988G>C (p.Gly2330Arg) c.10216G>C (p.Gly3406Arg) | |
8 | g.99868429G>T | CA371792331 | VPS13B | c.*525G>T (n.*525G>T) n.11501G>T c.*7113G>T (n.*7113G>T) c.11356G>T (p.Gly3786Ter) c.11431G>T (p.Gly3811Ter) n.373G>T c.11428G>T (p.Gly3810Ter) c.11353G>T (p.Gly3785Ter) c.11053G>T (p.Gly3685Ter) c.8317G>T (p.Gly2773Ter) c.7210G>T (p.Gly2404Ter) c.11236G>T (p.Gly3746Ter) c.6988G>T (p.Gly2330Ter) c.10216G>T (p.Gly3406Ter) | |
8 | g.99868430G>A | CA371792345 | VPS13B | c.*526G>A (n.*526G>A) n.11502G>A c.*7114G>A (n.*7114G>A) c.11357G>A (p.Gly3786Glu) c.11432G>A (p.Gly3811Glu) n.374G>A c.11429G>A (p.Gly3810Glu) c.11354G>A (p.Gly3785Glu) c.11054G>A (p.Gly3685Glu) c.8318G>A (p.Gly2773Glu) c.7211G>A (p.Gly2404Glu) c.11237G>A (p.Gly3746Glu) c.6989G>A (p.Gly2330Glu) c.10217G>A (p.Gly3406Glu) | |
8 | g.99868430G>C | CA371792347 | VPS13B | c.*526G>C (n.*526G>C) n.11502G>C c.*7114G>C (n.*7114G>C) c.11357G>C (p.Gly3786Ala) c.11432G>C (p.Gly3811Ala) n.374G>C c.11429G>C (p.Gly3810Ala) c.11354G>C (p.Gly3785Ala) c.11054G>C (p.Gly3685Ala) c.8318G>C (p.Gly2773Ala) c.7211G>C (p.Gly2404Ala) c.11237G>C (p.Gly3746Ala) c.6989G>C (p.Gly2330Ala) c.10217G>C (p.Gly3406Ala) | dbSNP |
8 | g.99868430G>T | CA371792348 | VPS13B | c.*526G>T (n.*526G>T) n.11502G>T c.*7114G>T (n.*7114G>T) c.11357G>T (p.Gly3786Val) c.11432G>T (p.Gly3811Val) n.374G>T c.11429G>T (p.Gly3810Val) c.11354G>T (p.Gly3785Val) c.11054G>T (p.Gly3685Val) c.8318G>T (p.Gly2773Val) c.7211G>T (p.Gly2404Val) c.11237G>T (p.Gly3746Val) c.6989G>T (p.Gly2330Val) c.10217G>T (p.Gly3406Val) | |
8 | g.99868431_99868432del | CA913128149 | VPS13B | c.*527_*528del (n.*527_*528del) n.11503_11504del c.*7115_*7116del (n.*7115_*7116del) c.11358_11359del (p.Gly3787SerfsTer3) c.11433_11434del (p.Gly3812SerfsTer3) n.375_376del c.11430_11431del (p.Gly3811SerfsTer3) c.11355_11356del (p.Gly3786SerfsTer3) c.11055_11056del (p.Gly3686SerfsTer3) c.8319_8320del (p.Gly2774SerfsTer3) c.7212_7213del (p.Gly2405SerfsTer3) c.11238_11239del (p.Gly3747SerfsTer3) c.6990_6991del (p.Gly2331SerfsTer3) c.10218_10219del (p.Gly3407SerfsTer3) | |
8 | g.99868431A>C | CA462339405 | VPS13B | c.*527A>C (n.*527A>C) n.11503A>C c.*7115A>C (n.*7115A>C) c.11358A>C (p.Gly3786=) c.11433A>C (p.Gly3811=) n.375A>C c.11430A>C (p.Gly3810=) c.11355A>C (p.Gly3785=) c.11055A>C (p.Gly3685=) c.8319A>C (p.Gly2773=) c.7212A>C (p.Gly2404=) c.11238A>C (p.Gly3746=) c.6990A>C (p.Gly2330=) c.10218A>C (p.Gly3406=) | |
8 | g.99868431A>G | CA462339406 | VPS13B | c.*527A>G (n.*527A>G) n.11503A>G c.*7115A>G (n.*7115A>G) c.11358A>G (p.Gly3786=) c.11433A>G (p.Gly3811=) n.375A>G c.11430A>G (p.Gly3810=) c.11355A>G (p.Gly3785=) c.11055A>G (p.Gly3685=) c.8319A>G (p.Gly2773=) c.7212A>G (p.Gly2404=) c.11238A>G (p.Gly3746=) c.6990A>G (p.Gly2330=) c.10218A>G (p.Gly3406=) | |
8 | g.99868431A>T | CA462339407 | VPS13B | c.*527A>T (n.*527A>T) n.11503A>T c.*7115A>T (n.*7115A>T) c.11358A>T (p.Gly3786=) c.11433A>T (p.Gly3811=) n.375A>T c.11430A>T (p.Gly3810=) c.11355A>T (p.Gly3785=) c.11055A>T (p.Gly3685=) c.8319A>T (p.Gly2773=) c.7212A>T (p.Gly2404=) c.11238A>T (p.Gly3746=) c.6990A>T (p.Gly2330=) c.10218A>T (p.Gly3406=) | |
8 | g.99868432G>A | CA371792352 | VPS13B | c.*528G>A (n.*528G>A) n.11504G>A c.*7116G>A (n.*7116G>A) c.11359G>A (p.Gly3787Arg) c.11434G>A (p.Gly3812Arg) n.376G>A c.11431G>A (p.Gly3811Arg) c.11356G>A (p.Gly3786Arg) c.11056G>A (p.Gly3686Arg) c.8320G>A (p.Gly2774Arg) c.7213G>A (p.Gly2405Arg) c.11239G>A (p.Gly3747Arg) c.6991G>A (p.Gly2331Arg) c.10219G>A (p.Gly3407Arg) | |
8 | g.99868432G>C | CA371792355 | VPS13B | c.*528G>C (n.*528G>C) n.11504G>C c.*7116G>C (n.*7116G>C) c.11359G>C (p.Gly3787Arg) c.11434G>C (p.Gly3812Arg) n.376G>C c.11431G>C (p.Gly3811Arg) c.11356G>C (p.Gly3786Arg) c.11056G>C (p.Gly3686Arg) c.8320G>C (p.Gly2774Arg) c.7213G>C (p.Gly2405Arg) c.11239G>C (p.Gly3747Arg) c.6991G>C (p.Gly2331Arg) c.10219G>C (p.Gly3407Arg) | |
8 | g.99868432G>T | CA371792357 | VPS13B | c.*528G>T (n.*528G>T) n.11504G>T c.*7116G>T (n.*7116G>T) c.11359G>T (p.Gly3787Ter) c.11434G>T (p.Gly3812Ter) n.376G>T c.11431G>T (p.Gly3811Ter) c.11356G>T (p.Gly3786Ter) c.11056G>T (p.Gly3686Ter) c.8320G>T (p.Gly2774Ter) c.7213G>T (p.Gly2405Ter) c.11239G>T (p.Gly3747Ter) c.6991G>T (p.Gly2331Ter) c.10219G>T (p.Gly3407Ter) | |
8 | g.99868433del | CA658821919 | VPS13B | c.*529del (n.*529del) n.11505del c.*7117del (n.*7117del) c.11360del (p.Gly3787GlufsTer?) c.11435del (p.Gly3812GlufsTer?) n.377del c.11432del (p.Gly3811GlufsTer?) c.11357del (p.Gly3786GlufsTer?) c.11057del (p.Gly3686GlufsTer?) c.8321del (p.Gly2774GlufsTer?) c.7214del (p.Gly2405GlufsTer?) c.11240del (p.Gly3747GlufsTer?) c.6992del (p.Gly2331GlufsTer?) c.10220del (p.Gly3407GlufsTer?) | ClinVar dbSNP |
8 | g.99868433G>A | CA182328697 | VPS13B | c.*529G>A (n.*529G>A) n.11505G>A c.*7117G>A (n.*7117G>A) c.11360G>A (p.Gly3787Glu) c.11435G>A (p.Gly3812Glu) n.377G>A c.11432G>A (p.Gly3811Glu) c.11357G>A (p.Gly3786Glu) c.11057G>A (p.Gly3686Glu) c.8321G>A (p.Gly2774Glu) c.7214G>A (p.Gly2405Glu) c.11240G>A (p.Gly3747Glu) c.6992G>A (p.Gly2331Glu) c.10220G>A (p.Gly3407Glu) | ClinVar dbSNP COSMIC COSMIC |
8 | g.99868433G>C | CA371792360 | VPS13B | c.*529G>C (n.*529G>C) n.11505G>C c.*7117G>C (n.*7117G>C) c.11360G>C (p.Gly3787Ala) c.11435G>C (p.Gly3812Ala) n.377G>C c.11432G>C (p.Gly3811Ala) c.11357G>C (p.Gly3786Ala) c.11057G>C (p.Gly3686Ala) c.8321G>C (p.Gly2774Ala) c.7214G>C (p.Gly2405Ala) c.11240G>C (p.Gly3747Ala) c.6992G>C (p.Gly2331Ala) c.10220G>C (p.Gly3407Ala) | |
8 | g.99868433G>T | CA371792359 | VPS13B | c.*529G>T (n.*529G>T) n.11505G>T c.*7117G>T (n.*7117G>T) c.11360G>T (p.Gly3787Val) c.11435G>T (p.Gly3812Val) n.377G>T c.11432G>T (p.Gly3811Val) c.11357G>T (p.Gly3786Val) c.11057G>T (p.Gly3686Val) c.8321G>T (p.Gly2774Val) c.7214G>T (p.Gly2405Val) c.11240G>T (p.Gly3747Val) c.6992G>T (p.Gly2331Val) c.10220G>T (p.Gly3407Val) | |
8 | g.99868434A>C | CA462339409 | VPS13B | c.*530A>C (n.*530A>C) n.11506A>C c.*7118A>C (n.*7118A>C) c.11361A>C (p.Gly3787=) c.11436A>C (p.Gly3812=) n.378A>C c.11433A>C (p.Gly3811=) c.11358A>C (p.Gly3786=) c.11058A>C (p.Gly3686=) c.8322A>C (p.Gly2774=) c.7215A>C (p.Gly2405=) c.11241A>C (p.Gly3747=) c.6993A>C (p.Gly2331=) c.10221A>C (p.Gly3407=) | gnomAD v4 |
8 | g.99868434A>G | CA462339410 | VPS13B | c.*530A>G (n.*530A>G) n.11506A>G c.*7118A>G (n.*7118A>G) c.11361A>G (p.Gly3787=) c.11436A>G (p.Gly3812=) n.378A>G c.11433A>G (p.Gly3811=) c.11358A>G (p.Gly3786=) c.11058A>G (p.Gly3686=) c.8322A>G (p.Gly2774=) c.7215A>G (p.Gly2405=) c.11241A>G (p.Gly3747=) c.6993A>G (p.Gly2331=) c.10221A>G (p.Gly3407=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868434A>T | CA462339411 | VPS13B | c.*530A>T (n.*530A>T) n.11506A>T c.*7118A>T (n.*7118A>T) c.11361A>T (p.Gly3787=) c.11436A>T (p.Gly3812=) n.378A>T c.11433A>T (p.Gly3811=) c.11358A>T (p.Gly3786=) c.11058A>T (p.Gly3686=) c.8322A>T (p.Gly2774=) c.7215A>T (p.Gly2405=) c.11241A>T (p.Gly3747=) c.6993A>T (p.Gly2331=) c.10221A>T (p.Gly3407=) | |
8 | g.99868435G>A | CA4825214 | VPS13B | c.*531G>A (n.*531G>A) n.11507G>A c.*7119G>A (n.*7119G>A) c.11362G>A (p.Ala3788Thr) c.11437G>A (p.Ala3813Thr) n.379G>A c.11434G>A (p.Ala3812Thr) c.11359G>A (p.Ala3787Thr) c.11059G>A (p.Ala3687Thr) c.8323G>A (p.Ala2775Thr) c.7216G>A (p.Ala2406Thr) c.11242G>A (p.Ala3748Thr) c.6994G>A (p.Ala2332Thr) c.10222G>A (p.Ala3408Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868435G>C | CA371792366 | VPS13B | c.*531G>C (n.*531G>C) n.11507G>C c.*7119G>C (n.*7119G>C) c.11362G>C (p.Ala3788Pro) c.11437G>C (p.Ala3813Pro) n.379G>C c.11434G>C (p.Ala3812Pro) c.11359G>C (p.Ala3787Pro) c.11059G>C (p.Ala3687Pro) c.8323G>C (p.Ala2775Pro) c.7216G>C (p.Ala2406Pro) c.11242G>C (p.Ala3748Pro) c.6994G>C (p.Ala2332Pro) c.10222G>C (p.Ala3408Pro) | |
8 | g.99868435G>T | CA371792368 | VPS13B | c.*531G>T (n.*531G>T) n.11507G>T c.*7119G>T (n.*7119G>T) c.11362G>T (p.Ala3788Ser) c.11437G>T (p.Ala3813Ser) n.379G>T c.11434G>T (p.Ala3812Ser) c.11359G>T (p.Ala3787Ser) c.11059G>T (p.Ala3687Ser) c.8323G>T (p.Ala2775Ser) c.7216G>T (p.Ala2406Ser) c.11242G>T (p.Ala3748Ser) c.6994G>T (p.Ala2332Ser) c.10222G>T (p.Ala3408Ser) | |
8 | g.99868436C>A | CA371792371 | VPS13B | c.*532C>A (n.*532C>A) n.11508C>A c.*7120C>A (n.*7120C>A) c.11363C>A (p.Ala3788Asp) c.11438C>A (p.Ala3813Asp) n.380C>A c.11435C>A (p.Ala3812Asp) c.11360C>A (p.Ala3787Asp) c.11060C>A (p.Ala3687Asp) c.8324C>A (p.Ala2775Asp) c.7217C>A (p.Ala2406Asp) c.11243C>A (p.Ala3748Asp) c.6995C>A (p.Ala2332Asp) c.10223C>A (p.Ala3408Asp) | |
8 | g.99868436C>G | CA371792373 | VPS13B | c.*532C>G (n.*532C>G) n.11508C>G c.*7120C>G (n.*7120C>G) c.11363C>G (p.Ala3788Gly) c.11438C>G (p.Ala3813Gly) n.380C>G c.11435C>G (p.Ala3812Gly) c.11360C>G (p.Ala3787Gly) c.11060C>G (p.Ala3687Gly) c.8324C>G (p.Ala2775Gly) c.7217C>G (p.Ala2406Gly) c.11243C>G (p.Ala3748Gly) c.6995C>G (p.Ala2332Gly) c.10223C>G (p.Ala3408Gly) | |
8 | g.99868436C>T | CA371792374 | VPS13B | c.*532C>T (n.*532C>T) n.11508C>T c.*7120C>T (n.*7120C>T) c.11363C>T (p.Ala3788Val) c.11438C>T (p.Ala3813Val) n.380C>T c.11435C>T (p.Ala3812Val) c.11360C>T (p.Ala3787Val) c.11060C>T (p.Ala3687Val) c.8324C>T (p.Ala2775Val) c.7217C>T (p.Ala2406Val) c.11243C>T (p.Ala3748Val) c.6995C>T (p.Ala2332Val) c.10223C>T (p.Ala3408Val) | gnomAD v4 |
8 | g.99868437del | CA857608643 | VPS13B | c.*533del (n.*533del) n.11509del c.*7121del (n.*7121del) c.11364del (p.Ala3789LeufsTer?) c.11439del (p.Ala3814LeufsTer?) n.381del c.11436del (p.Ala3813LeufsTer?) c.11361del (p.Ala3788LeufsTer?) c.11061del (p.Ala3688LeufsTer?) c.8325del (p.Ala2776LeufsTer?) c.7218del (p.Ala2407LeufsTer?) c.11244del (p.Ala3749LeufsTer?) c.6996del (p.Ala2333LeufsTer?) c.10224del (p.Ala3409LeufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868437T>A | CA462339415 | VPS13B | c.*533T>A (n.*533T>A) n.11509T>A c.*7121T>A (n.*7121T>A) c.11364T>A (p.Ala3788=) c.11439T>A (p.Ala3813=) n.381T>A c.11436T>A (p.Ala3812=) c.11361T>A (p.Ala3787=) c.11061T>A (p.Ala3687=) c.8325T>A (p.Ala2775=) c.7218T>A (p.Ala2406=) c.11244T>A (p.Ala3748=) c.6996T>A (p.Ala2332=) c.10224T>A (p.Ala3408=) | |
8 | g.99868437T>C | CA462339414 | VPS13B | c.*533T>C (n.*533T>C) n.11509T>C c.*7121T>C (n.*7121T>C) c.11364T>C (p.Ala3788=) c.11439T>C (p.Ala3813=) n.381T>C c.11436T>C (p.Ala3812=) c.11361T>C (p.Ala3787=) c.11061T>C (p.Ala3687=) c.8325T>C (p.Ala2775=) c.7218T>C (p.Ala2406=) c.11244T>C (p.Ala3748=) c.6996T>C (p.Ala2332=) c.10224T>C (p.Ala3408=) | |
8 | g.99868437T>G | CA462339413 | VPS13B | c.*533T>G (n.*533T>G) n.11509T>G c.*7121T>G (n.*7121T>G) c.11364T>G (p.Ala3788=) c.11439T>G (p.Ala3813=) n.381T>G c.11436T>G (p.Ala3812=) c.11361T>G (p.Ala3787=) c.11061T>G (p.Ala3687=) c.8325T>G (p.Ala2775=) c.7218T>G (p.Ala2406=) c.11244T>G (p.Ala3748=) c.6996T>G (p.Ala2332=) c.10224T>G (p.Ala3408=) | ClinVar dbSNP gnomAD v4 |
8 | g.99868438G>A | CA371792376 | VPS13B | c.*534G>A (n.*534G>A) n.11510G>A c.*7122G>A (n.*7122G>A) c.11365G>A (p.Ala3789Thr) c.11440G>A (p.Ala3814Thr) n.382G>A c.11437G>A (p.Ala3813Thr) c.11362G>A (p.Ala3788Thr) c.11062G>A (p.Ala3688Thr) c.8326G>A (p.Ala2776Thr) c.7219G>A (p.Ala2407Thr) c.11245G>A (p.Ala3749Thr) c.6997G>A (p.Ala2333Thr) c.10225G>A (p.Ala3409Thr) | |
8 | g.99868438G>C | CA371792378 | VPS13B | c.*534G>C (n.*534G>C) n.11510G>C c.*7122G>C (n.*7122G>C) c.11365G>C (p.Ala3789Pro) c.11440G>C (p.Ala3814Pro) n.382G>C c.11437G>C (p.Ala3813Pro) c.11362G>C (p.Ala3788Pro) c.11062G>C (p.Ala3688Pro) c.8326G>C (p.Ala2776Pro) c.7219G>C (p.Ala2407Pro) c.11245G>C (p.Ala3749Pro) c.6997G>C (p.Ala2333Pro) c.10225G>C (p.Ala3409Pro) | |
8 | g.99868438G>T | CA371792379 | VPS13B | c.*534G>T (n.*534G>T) n.11510G>T c.*7122G>T (n.*7122G>T) c.11365G>T (p.Ala3789Ser) c.11440G>T (p.Ala3814Ser) n.382G>T c.11437G>T (p.Ala3813Ser) c.11362G>T (p.Ala3788Ser) c.11062G>T (p.Ala3688Ser) c.8326G>T (p.Ala2776Ser) c.7219G>T (p.Ala2407Ser) c.11245G>T (p.Ala3749Ser) c.6997G>T (p.Ala2333Ser) c.10225G>T (p.Ala3409Ser) | |
8 | g.99868439C>A | CA371792382 | VPS13B | c.*535C>A (n.*535C>A) n.11511C>A c.*7123C>A (n.*7123C>A) c.11366C>A (p.Ala3789Asp) c.11441C>A (p.Ala3814Asp) n.383C>A c.11438C>A (p.Ala3813Asp) c.11363C>A (p.Ala3788Asp) c.11063C>A (p.Ala3688Asp) c.8327C>A (p.Ala2776Asp) c.7220C>A (p.Ala2407Asp) c.11246C>A (p.Ala3749Asp) c.6998C>A (p.Ala2333Asp) c.10226C>A (p.Ala3409Asp) | |
8 | g.99868439C>G | CA371792384 | VPS13B | c.*535C>G (n.*535C>G) n.11511C>G c.*7123C>G (n.*7123C>G) c.11366C>G (p.Ala3789Gly) c.11441C>G (p.Ala3814Gly) n.383C>G c.11438C>G (p.Ala3813Gly) c.11363C>G (p.Ala3788Gly) c.11063C>G (p.Ala3688Gly) c.8327C>G (p.Ala2776Gly) c.7220C>G (p.Ala2407Gly) c.11246C>G (p.Ala3749Gly) c.6998C>G (p.Ala2333Gly) c.10226C>G (p.Ala3409Gly) | |
8 | g.99868439C>T | CA371792387 | VPS13B | c.*535C>T (n.*535C>T) n.11511C>T c.*7123C>T (n.*7123C>T) c.11366C>T (p.Ala3789Val) c.11441C>T (p.Ala3814Val) n.383C>T c.11438C>T (p.Ala3813Val) c.11363C>T (p.Ala3788Val) c.11063C>T (p.Ala3688Val) c.8327C>T (p.Ala2776Val) c.7220C>T (p.Ala2407Val) c.11246C>T (p.Ala3749Val) c.6998C>T (p.Ala2333Val) c.10226C>T (p.Ala3409Val) | |
8 | g.99868440T>A | CA462339417 | VPS13B | c.*536T>A (n.*536T>A) n.11512T>A c.*7124T>A (n.*7124T>A) c.11367T>A (p.Ala3789=) c.11442T>A (p.Ala3814=) n.384T>A c.11439T>A (p.Ala3813=) c.11364T>A (p.Ala3788=) c.11064T>A (p.Ala3688=) c.8328T>A (p.Ala2776=) c.7221T>A (p.Ala2407=) c.11247T>A (p.Ala3749=) c.6999T>A (p.Ala2333=) c.10227T>A (p.Ala3409=) | |
8 | g.99868440T>C | CA4825215 | VPS13B | c.*536T>C (n.*536T>C) n.11512T>C c.*7124T>C (n.*7124T>C) c.11367T>C (p.Ala3789=) c.11442T>C (p.Ala3814=) n.384T>C c.11439T>C (p.Ala3813=) c.11364T>C (p.Ala3788=) c.11064T>C (p.Ala3688=) c.8328T>C (p.Ala2776=) c.7221T>C (p.Ala2407=) c.11247T>C (p.Ala3749=) c.6999T>C (p.Ala2333=) c.10227T>C (p.Ala3409=) | dbSNP ExAC gnomAD v2 |
8 | g.99868440T>G | CA462339418 | VPS13B | c.*536T>G (n.*536T>G) n.11512T>G c.*7124T>G (n.*7124T>G) c.11367T>G (p.Ala3789=) c.11442T>G (p.Ala3814=) n.384T>G c.11439T>G (p.Ala3813=) c.11364T>G (p.Ala3788=) c.11064T>G (p.Ala3688=) c.8328T>G (p.Ala2776=) c.7221T>G (p.Ala2407=) c.11247T>G (p.Ala3749=) c.6999T>G (p.Ala2333=) c.10227T>G (p.Ala3409=) | |
8 | g.99868441G>A | CA371792400 | VPS13B | c.*537G>A (n.*537G>A) n.11513G>A c.*7125G>A (n.*7125G>A) c.11368G>A (p.Glu3790Lys) c.11443G>A (p.Glu3815Lys) n.385G>A c.11440G>A (p.Glu3814Lys) c.11365G>A (p.Glu3789Lys) c.11065G>A (p.Glu3689Lys) c.8329G>A (p.Glu2777Lys) c.7222G>A (p.Glu2408Lys) c.11248G>A (p.Glu3750Lys) c.7000G>A (p.Glu2334Lys) c.10228G>A (p.Glu3410Lys) | |
8 | g.99868441G>C | CA371792395 | VPS13B | c.*537G>C (n.*537G>C) n.11513G>C c.*7125G>C (n.*7125G>C) c.11368G>C (p.Glu3790Gln) c.11443G>C (p.Glu3815Gln) n.385G>C c.11440G>C (p.Glu3814Gln) c.11365G>C (p.Glu3789Gln) c.11065G>C (p.Glu3689Gln) c.8329G>C (p.Glu2777Gln) c.7222G>C (p.Glu2408Gln) c.11248G>C (p.Glu3750Gln) c.7000G>C (p.Glu2334Gln) c.10228G>C (p.Glu3410Gln) | |
8 | g.99868441G>T | CA371792397 | VPS13B | c.*537G>T (n.*537G>T) n.11513G>T c.*7125G>T (n.*7125G>T) c.11368G>T (p.Glu3790Ter) c.11443G>T (p.Glu3815Ter) n.385G>T c.11440G>T (p.Glu3814Ter) c.11365G>T (p.Glu3789Ter) c.11065G>T (p.Glu3689Ter) c.8329G>T (p.Glu2777Ter) c.7222G>T (p.Glu2408Ter) c.11248G>T (p.Glu3750Ter) c.7000G>T (p.Glu2334Ter) c.10228G>T (p.Glu3410Ter) | gnomAD v4 |
8 | g.99868442A>C | CA371792402 | VPS13B | c.*538A>C (n.*538A>C) n.11514A>C c.*7126A>C (n.*7126A>C) c.11369A>C (p.Glu3790Ala) c.11444A>C (p.Glu3815Ala) n.386A>C c.11441A>C (p.Glu3814Ala) c.11366A>C (p.Glu3789Ala) c.11066A>C (p.Glu3689Ala) c.8330A>C (p.Glu2777Ala) c.7223A>C (p.Glu2408Ala) c.11249A>C (p.Glu3750Ala) c.7001A>C (p.Glu2334Ala) c.10229A>C (p.Glu3410Ala) | |
8 | g.99868442A>G | CA371792404 | VPS13B | c.*538A>G (n.*538A>G) n.11514A>G c.*7126A>G (n.*7126A>G) c.11369A>G (p.Glu3790Gly) c.11444A>G (p.Glu3815Gly) n.386A>G c.11441A>G (p.Glu3814Gly) c.11366A>G (p.Glu3789Gly) c.11066A>G (p.Glu3689Gly) c.8330A>G (p.Glu2777Gly) c.7223A>G (p.Glu2408Gly) c.11249A>G (p.Glu3750Gly) c.7001A>G (p.Glu2334Gly) c.10229A>G (p.Glu3410Gly) | gnomAD v4 |
8 | g.99868442A>T | CA371792406 | VPS13B | c.*538A>T (n.*538A>T) n.11514A>T c.*7126A>T (n.*7126A>T) c.11369A>T (p.Glu3790Val) c.11444A>T (p.Glu3815Val) n.386A>T c.11441A>T (p.Glu3814Val) c.11366A>T (p.Glu3789Val) c.11066A>T (p.Glu3689Val) c.8330A>T (p.Glu2777Val) c.7223A>T (p.Glu2408Val) c.11249A>T (p.Glu3750Val) c.7001A>T (p.Glu2334Val) c.10229A>T (p.Glu3410Val) | |
8 | g.99868443G>A | CA462339422 | VPS13B | c.*539G>A (n.*539G>A) n.11515G>A c.*7127G>A (n.*7127G>A) c.11370G>A (p.Glu3790=) c.11445G>A (p.Glu3815=) n.387G>A c.11442G>A (p.Glu3814=) c.11367G>A (p.Glu3789=) c.11067G>A (p.Glu3689=) c.8331G>A (p.Glu2777=) c.7224G>A (p.Glu2408=) c.11250G>A (p.Glu3750=) c.7002G>A (p.Glu2334=) c.10230G>A (p.Glu3410=) | |
8 | g.99868443G>C | CA371792408 | VPS13B | c.*539G>C (n.*539G>C) n.11515G>C c.*7127G>C (n.*7127G>C) c.11370G>C (p.Glu3790Asp) c.11445G>C (p.Glu3815Asp) n.387G>C c.11442G>C (p.Glu3814Asp) c.11367G>C (p.Glu3789Asp) c.11067G>C (p.Glu3689Asp) c.8331G>C (p.Glu2777Asp) c.7224G>C (p.Glu2408Asp) c.11250G>C (p.Glu3750Asp) c.7002G>C (p.Glu2334Asp) c.10230G>C (p.Glu3410Asp) | |
8 | g.99868443G>T | CA371792412 | VPS13B | c.*539G>T (n.*539G>T) n.11515G>T c.*7127G>T (n.*7127G>T) c.11370G>T (p.Glu3790Asp) c.11445G>T (p.Glu3815Asp) n.387G>T c.11442G>T (p.Glu3814Asp) c.11367G>T (p.Glu3789Asp) c.11067G>T (p.Glu3689Asp) c.8331G>T (p.Glu2777Asp) c.7224G>T (p.Glu2408Asp) c.11250G>T (p.Glu3750Asp) c.7002G>T (p.Glu2334Asp) c.10230G>T (p.Glu3410Asp) |