Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99868288G>A | CA16041274 | VPS13B | c.*385-1G>A (n.*385-1G>A) n.11361-1G>A c.*6973-1G>A (n.*6973-1G>A) c.11216-1G>A (n.11216-1G>A) c.11291-1G>A (n.11291-1G>A) n.232G>A c.11288-1G>A (n.11288-1G>A) c.11213-1G>A (n.11213-1G>A) c.10913-1G>A (n.10913-1G>A) c.8177-1G>A (n.8177-1G>A) c.7070-1G>A (n.7070-1G>A) c.11096-1G>A (n.11096-1G>A) c.6848-1G>A (n.6848-1G>A) c.10076-1G>A (n.10076-1G>A) | ClinVar dbSNP |
8 | g.99868288G>C | CA371791689 | VPS13B | c.*385-1G>C (n.*385-1G>C) n.11361-1G>C c.*6973-1G>C (n.*6973-1G>C) c.11216-1G>C (n.11216-1G>C) c.11291-1G>C (n.11291-1G>C) n.232G>C c.11288-1G>C (n.11288-1G>C) c.11213-1G>C (n.11213-1G>C) c.10913-1G>C (n.10913-1G>C) c.8177-1G>C (n.8177-1G>C) c.7070-1G>C (n.7070-1G>C) c.11096-1G>C (n.11096-1G>C) c.6848-1G>C (n.6848-1G>C) c.10076-1G>C (n.10076-1G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868288G>T | CA371791691 | VPS13B | c.*385-1G>T (n.*385-1G>T) n.11361-1G>T c.*6973-1G>T (n.*6973-1G>T) c.11216-1G>T (n.11216-1G>T) c.11291-1G>T (n.11291-1G>T) n.232G>T c.11288-1G>T (n.11288-1G>T) c.11213-1G>T (n.11213-1G>T) c.10913-1G>T (n.10913-1G>T) c.8177-1G>T (n.8177-1G>T) c.7070-1G>T (n.7070-1G>T) c.11096-1G>T (n.11096-1G>T) c.6848-1G>T (n.6848-1G>T) c.10076-1G>T (n.10076-1G>T) | |
8 | g.99868289G>A | CA371791694 | VPS13B | c.*385G>A (n.*385G>A) n.11361G>A c.*6973G>A (n.*6973G>A) c.11216G>A (p.Gly3739Asp) c.11291G>A (p.Gly3764Asp) n.233G>A c.11288G>A (p.Gly3763Asp) c.11213G>A (p.Gly3738Asp) c.10913G>A (p.Gly3638Asp) c.8177G>A (p.Gly2726Asp) c.7070G>A (p.Gly2357Asp) c.11096G>A (p.Gly3699Asp) c.6848G>A (p.Gly2283Asp) c.10076G>A (p.Gly3359Asp) | |
8 | g.99868289G>C | CA371791695 | VPS13B | c.*385G>C (n.*385G>C) n.11361G>C c.*6973G>C (n.*6973G>C) c.11216G>C (p.Gly3739Ala) c.11291G>C (p.Gly3764Ala) n.233G>C c.11288G>C (p.Gly3763Ala) c.11213G>C (p.Gly3738Ala) c.10913G>C (p.Gly3638Ala) c.8177G>C (p.Gly2726Ala) c.7070G>C (p.Gly2357Ala) c.11096G>C (p.Gly3699Ala) c.6848G>C (p.Gly2283Ala) c.10076G>C (p.Gly3359Ala) | |
8 | g.99868289G>T | CA371791697 | VPS13B | c.*385G>T (n.*385G>T) n.11361G>T c.*6973G>T (n.*6973G>T) c.11216G>T (p.Gly3739Val) c.11291G>T (p.Gly3764Val) n.233G>T c.11288G>T (p.Gly3763Val) c.11213G>T (p.Gly3738Val) c.10913G>T (p.Gly3638Val) c.8177G>T (p.Gly2726Val) c.7070G>T (p.Gly2357Val) c.11096G>T (p.Gly3699Val) c.6848G>T (p.Gly2283Val) c.10076G>T (p.Gly3359Val) | |
8 | g.99868290T>A | CA462339083 | VPS13B | c.*386T>A (n.*386T>A) n.11362T>A c.*6974T>A (n.*6974T>A) c.11217T>A (p.Gly3739=) c.11292T>A (p.Gly3764=) n.234T>A c.11289T>A (p.Gly3763=) c.11214T>A (p.Gly3738=) c.10914T>A (p.Gly3638=) c.8178T>A (p.Gly2726=) c.7071T>A (p.Gly2357=) c.11097T>A (p.Gly3699=) c.6849T>A (p.Gly2283=) c.10077T>A (p.Gly3359=) | |
8 | g.99868290T>C | CA462339084 | VPS13B | c.*386T>C (n.*386T>C) n.11362T>C c.*6974T>C (n.*6974T>C) c.11217T>C (p.Gly3739=) c.11292T>C (p.Gly3764=) n.234T>C c.11289T>C (p.Gly3763=) c.11214T>C (p.Gly3738=) c.10914T>C (p.Gly3638=) c.8178T>C (p.Gly2726=) c.7071T>C (p.Gly2357=) c.11097T>C (p.Gly3699=) c.6849T>C (p.Gly2283=) c.10077T>C (p.Gly3359=) | |
8 | g.99868290T>G | CA462339085 | VPS13B | c.*386T>G (n.*386T>G) n.11362T>G c.*6974T>G (n.*6974T>G) c.11217T>G (p.Gly3739=) c.11292T>G (p.Gly3764=) n.234T>G c.11289T>G (p.Gly3763=) c.11214T>G (p.Gly3738=) c.10914T>G (p.Gly3638=) c.8178T>G (p.Gly2726=) c.7071T>G (p.Gly2357=) c.11097T>G (p.Gly3699=) c.6849T>G (p.Gly2283=) c.10077T>G (p.Gly3359=) | |
8 | g.99868291G>A | CA4825187 | VPS13B | c.*387G>A (n.*387G>A) n.11363G>A c.*6975G>A (n.*6975G>A) c.11218G>A (p.Ala3740Thr) c.11293G>A (p.Ala3765Thr) n.235G>A c.11290G>A (p.Ala3764Thr) c.11215G>A (p.Ala3739Thr) c.10915G>A (p.Ala3639Thr) c.8179G>A (p.Ala2727Thr) c.7072G>A (p.Ala2358Thr) c.11098G>A (p.Ala3700Thr) c.6850G>A (p.Ala2284Thr) c.10078G>A (p.Ala3360Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868291G>C | CA371791701 | VPS13B | c.*387G>C (n.*387G>C) n.11363G>C c.*6975G>C (n.*6975G>C) c.11218G>C (p.Ala3740Pro) c.11293G>C (p.Ala3765Pro) n.235G>C c.11290G>C (p.Ala3764Pro) c.11215G>C (p.Ala3739Pro) c.10915G>C (p.Ala3639Pro) c.8179G>C (p.Ala2727Pro) c.7072G>C (p.Ala2358Pro) c.11098G>C (p.Ala3700Pro) c.6850G>C (p.Ala2284Pro) c.10078G>C (p.Ala3360Pro) | |
8 | g.99868291G>T | CA371791699 | VPS13B | c.*387G>T (n.*387G>T) n.11363G>T c.*6975G>T (n.*6975G>T) c.11218G>T (p.Ala3740Ser) c.11293G>T (p.Ala3765Ser) n.235G>T c.11290G>T (p.Ala3764Ser) c.11215G>T (p.Ala3739Ser) c.10915G>T (p.Ala3639Ser) c.8179G>T (p.Ala2727Ser) c.7072G>T (p.Ala2358Ser) c.11098G>T (p.Ala3700Ser) c.6850G>T (p.Ala2284Ser) c.10078G>T (p.Ala3360Ser) | |
8 | g.99868292C>A | CA371791704 | VPS13B | c.*388C>A (n.*388C>A) n.11364C>A c.*6976C>A (n.*6976C>A) c.11219C>A (p.Ala3740Glu) c.11294C>A (p.Ala3765Glu) n.236C>A c.11291C>A (p.Ala3764Glu) c.11216C>A (p.Ala3739Glu) c.10916C>A (p.Ala3639Glu) c.8180C>A (p.Ala2727Glu) c.7073C>A (p.Ala2358Glu) c.11099C>A (p.Ala3700Glu) c.6851C>A (p.Ala2284Glu) c.10079C>A (p.Ala3360Glu) | |
8 | g.99868292C>G | CA371791707 | VPS13B | c.*388C>G (n.*388C>G) n.11364C>G c.*6976C>G (n.*6976C>G) c.11219C>G (p.Ala3740Gly) c.11294C>G (p.Ala3765Gly) n.236C>G c.11291C>G (p.Ala3764Gly) c.11216C>G (p.Ala3739Gly) c.10916C>G (p.Ala3639Gly) c.8180C>G (p.Ala2727Gly) c.7073C>G (p.Ala2358Gly) c.11099C>G (p.Ala3700Gly) c.6851C>G (p.Ala2284Gly) c.10079C>G (p.Ala3360Gly) | |
8 | g.99868292C>T | CA371791706 | VPS13B | c.*388C>T (n.*388C>T) n.11364C>T c.*6976C>T (n.*6976C>T) c.11219C>T (p.Ala3740Val) c.11294C>T (p.Ala3765Val) n.236C>T c.11291C>T (p.Ala3764Val) c.11216C>T (p.Ala3739Val) c.10916C>T (p.Ala3639Val) c.8180C>T (p.Ala2727Val) c.7073C>T (p.Ala2358Val) c.11099C>T (p.Ala3700Val) c.6851C>T (p.Ala2284Val) c.10079C>T (p.Ala3360Val) | COSMIC COSMIC |
8 | g.99868292dup | CA182328541 | VPS13B | c.*388dup (n.*388dup) n.11364dup c.*6976dup (n.*6976dup) c.11219dup (p.Ile3741AsnfsTer6) c.11294dup (p.Ile3766AsnfsTer6) n.236dup c.11291dup (p.Ile3765AsnfsTer6) c.11216dup (p.Ile3740AsnfsTer6) c.10916dup (p.Ile3640AsnfsTer6) c.8180dup (p.Ile2728AsnfsTer6) c.7073dup (p.Ile2359AsnfsTer6) c.11099dup (p.Ile3701AsnfsTer6) c.6851dup (p.Ile2285AsnfsTer6) c.10079dup (p.Ile3361AsnfsTer6) | dbSNP |
8 | g.99868293A>C | CA462339090 | VPS13B | c.*389A>C (n.*389A>C) n.11365A>C c.*6977A>C (n.*6977A>C) c.11220A>C (p.Ala3740=) c.11295A>C (p.Ala3765=) n.237A>C c.11292A>C (p.Ala3764=) c.11217A>C (p.Ala3739=) c.10917A>C (p.Ala3639=) c.8181A>C (p.Ala2727=) c.7074A>C (p.Ala2358=) c.11100A>C (p.Ala3700=) c.6852A>C (p.Ala2284=) c.10080A>C (p.Ala3360=) | |
8 | g.99868293A>G | CA4825188 | VPS13B | c.*389A>G (n.*389A>G) n.11365A>G c.*6977A>G (n.*6977A>G) c.11220A>G (p.Ala3740=) c.11295A>G (p.Ala3765=) n.237A>G c.11292A>G (p.Ala3764=) c.11217A>G (p.Ala3739=) c.10917A>G (p.Ala3639=) c.8181A>G (p.Ala2727=) c.7074A>G (p.Ala2358=) c.11100A>G (p.Ala3700=) c.6852A>G (p.Ala2284=) c.10080A>G (p.Ala3360=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868293A>T | CA4825189 | VPS13B | c.*389A>T (n.*389A>T) n.11365A>T c.*6977A>T (n.*6977A>T) c.11220A>T (p.Ala3740=) c.11295A>T (p.Ala3765=) n.237A>T c.11292A>T (p.Ala3764=) c.11217A>T (p.Ala3739=) c.10917A>T (p.Ala3639=) c.8181A>T (p.Ala2727=) c.7074A>T (p.Ala2358=) c.11100A>T (p.Ala3700=) c.6852A>T (p.Ala2284=) c.10080A>T (p.Ala3360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868294A>C | CA371791711 | VPS13B | c.*390A>C (n.*390A>C) n.11366A>C c.*6978A>C (n.*6978A>C) c.11221A>C (p.Ile3741Leu) c.11296A>C (p.Ile3766Leu) n.238A>C c.11293A>C (p.Ile3765Leu) c.11218A>C (p.Ile3740Leu) c.10918A>C (p.Ile3640Leu) c.8182A>C (p.Ile2728Leu) c.7075A>C (p.Ile2359Leu) c.11101A>C (p.Ile3701Leu) c.6853A>C (p.Ile2285Leu) c.10081A>C (p.Ile3361Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868294A>G | CA371791713 | VPS13B | c.*390A>G (n.*390A>G) n.11366A>G c.*6978A>G (n.*6978A>G) c.11221A>G (p.Ile3741Val) c.11296A>G (p.Ile3766Val) n.238A>G c.11293A>G (p.Ile3765Val) c.11218A>G (p.Ile3740Val) c.10918A>G (p.Ile3640Val) c.8182A>G (p.Ile2728Val) c.7075A>G (p.Ile2359Val) c.11101A>G (p.Ile3701Val) c.6853A>G (p.Ile2285Val) c.10081A>G (p.Ile3361Val) | ClinVar gnomAD v4 |
8 | g.99868294A>T | CA371791712 | VPS13B | c.*390A>T (n.*390A>T) n.11366A>T c.*6978A>T (n.*6978A>T) c.11221A>T (p.Ile3741Phe) c.11296A>T (p.Ile3766Phe) n.238A>T c.11293A>T (p.Ile3765Phe) c.11218A>T (p.Ile3740Phe) c.10918A>T (p.Ile3640Phe) c.8182A>T (p.Ile2728Phe) c.7075A>T (p.Ile2359Phe) c.11101A>T (p.Ile3701Phe) c.6853A>T (p.Ile2285Phe) c.10081A>T (p.Ile3361Phe) | |
8 | g.99868295T>A | CA371791716 | VPS13B | c.*391T>A (n.*391T>A) n.11367T>A c.*6979T>A (n.*6979T>A) c.11222T>A (p.Ile3741Asn) c.11297T>A (p.Ile3766Asn) n.239T>A c.11294T>A (p.Ile3765Asn) c.11219T>A (p.Ile3740Asn) c.10919T>A (p.Ile3640Asn) c.8183T>A (p.Ile2728Asn) c.7076T>A (p.Ile2359Asn) c.11102T>A (p.Ile3701Asn) c.6854T>A (p.Ile2285Asn) c.10082T>A (p.Ile3361Asn) | |
8 | g.99868295T>C | CA371791717 | VPS13B | c.*391T>C (n.*391T>C) n.11367T>C c.*6979T>C (n.*6979T>C) c.11222T>C (p.Ile3741Thr) c.11297T>C (p.Ile3766Thr) n.239T>C c.11294T>C (p.Ile3765Thr) c.11219T>C (p.Ile3740Thr) c.10919T>C (p.Ile3640Thr) c.8183T>C (p.Ile2728Thr) c.7076T>C (p.Ile2359Thr) c.11102T>C (p.Ile3701Thr) c.6854T>C (p.Ile2285Thr) c.10082T>C (p.Ile3361Thr) | |
8 | g.99868295T>G | CA371791719 | VPS13B | c.*391T>G (n.*391T>G) n.11367T>G c.*6979T>G (n.*6979T>G) c.11222T>G (p.Ile3741Ser) c.11297T>G (p.Ile3766Ser) n.239T>G c.11294T>G (p.Ile3765Ser) c.11219T>G (p.Ile3740Ser) c.10919T>G (p.Ile3640Ser) c.8183T>G (p.Ile2728Ser) c.7076T>G (p.Ile2359Ser) c.11102T>G (p.Ile3701Ser) c.6854T>G (p.Ile2285Ser) c.10082T>G (p.Ile3361Ser) | |
8 | g.99868296T>A | CA462339092 | VPS13B | c.*392T>A (n.*392T>A) n.11368T>A c.*6980T>A (n.*6980T>A) c.11223T>A (p.Ile3741=) c.11298T>A (p.Ile3766=) n.240T>A c.11295T>A (p.Ile3765=) c.11220T>A (p.Ile3740=) c.10920T>A (p.Ile3640=) c.8184T>A (p.Ile2728=) c.7077T>A (p.Ile2359=) c.11103T>A (p.Ile3701=) c.6855T>A (p.Ile2285=) c.10083T>A (p.Ile3361=) | |
8 | g.99868296T>C | CA462339094 | VPS13B | c.*392T>C (n.*392T>C) n.11368T>C c.*6980T>C (n.*6980T>C) c.11223T>C (p.Ile3741=) c.11298T>C (p.Ile3766=) n.240T>C c.11295T>C (p.Ile3765=) c.11220T>C (p.Ile3740=) c.10920T>C (p.Ile3640=) c.8184T>C (p.Ile2728=) c.7077T>C (p.Ile2359=) c.11103T>C (p.Ile3701=) c.6855T>C (p.Ile2285=) c.10083T>C (p.Ile3361=) | |
8 | g.99868296T>G | CA182328569 | VPS13B | c.*392T>G (n.*392T>G) n.11368T>G c.*6980T>G (n.*6980T>G) c.11223T>G (p.Ile3741Met) c.11298T>G (p.Ile3766Met) n.240T>G c.11295T>G (p.Ile3765Met) c.11220T>G (p.Ile3740Met) c.10920T>G (p.Ile3640Met) c.8184T>G (p.Ile2728Met) c.7077T>G (p.Ile2359Met) c.11103T>G (p.Ile3701Met) c.6855T>G (p.Ile2285Met) c.10083T>G (p.Ile3361Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868297G>A | CA371791722 | VPS13B | c.*393G>A (n.*393G>A) n.11369G>A c.*6981G>A (n.*6981G>A) c.11224G>A (p.Ala3742Thr) c.11299G>A (p.Ala3767Thr) n.241G>A c.11296G>A (p.Ala3766Thr) c.11221G>A (p.Ala3741Thr) c.10921G>A (p.Ala3641Thr) c.8185G>A (p.Ala2729Thr) c.7078G>A (p.Ala2360Thr) c.11104G>A (p.Ala3702Thr) c.6856G>A (p.Ala2286Thr) c.10084G>A (p.Ala3362Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868297G>C | CA371791723 | VPS13B | c.*393G>C (n.*393G>C) n.11369G>C c.*6981G>C (n.*6981G>C) c.11224G>C (p.Ala3742Pro) c.11299G>C (p.Ala3767Pro) n.241G>C c.11296G>C (p.Ala3766Pro) c.11221G>C (p.Ala3741Pro) c.10921G>C (p.Ala3641Pro) c.8185G>C (p.Ala2729Pro) c.7078G>C (p.Ala2360Pro) c.11104G>C (p.Ala3702Pro) c.6856G>C (p.Ala2286Pro) c.10084G>C (p.Ala3362Pro) | |
8 | g.99868297G>T | CA371791725 | VPS13B | c.*393G>T (n.*393G>T) n.11369G>T c.*6981G>T (n.*6981G>T) c.11224G>T (p.Ala3742Ser) c.11299G>T (p.Ala3767Ser) n.241G>T c.11296G>T (p.Ala3766Ser) c.11221G>T (p.Ala3741Ser) c.10921G>T (p.Ala3641Ser) c.8185G>T (p.Ala2729Ser) c.7078G>T (p.Ala2360Ser) c.11104G>T (p.Ala3702Ser) c.6856G>T (p.Ala2286Ser) c.10084G>T (p.Ala3362Ser) | |
8 | g.99868298C>A | CA371791728 | VPS13B | c.*394C>A (n.*394C>A) n.11370C>A c.*6982C>A (n.*6982C>A) c.11225C>A (p.Ala3742Asp) c.11300C>A (p.Ala3767Asp) n.242C>A c.11297C>A (p.Ala3766Asp) c.11222C>A (p.Ala3741Asp) c.10922C>A (p.Ala3641Asp) c.8186C>A (p.Ala2729Asp) c.7079C>A (p.Ala2360Asp) c.11105C>A (p.Ala3702Asp) c.6857C>A (p.Ala2286Asp) c.10085C>A (p.Ala3362Asp) | |
8 | g.99868298C>G | CA371791730 | VPS13B | c.*394C>G (n.*394C>G) n.11370C>G c.*6982C>G (n.*6982C>G) c.11225C>G (p.Ala3742Gly) c.11300C>G (p.Ala3767Gly) n.242C>G c.11297C>G (p.Ala3766Gly) c.11222C>G (p.Ala3741Gly) c.10922C>G (p.Ala3641Gly) c.8186C>G (p.Ala2729Gly) c.7079C>G (p.Ala2360Gly) c.11105C>G (p.Ala3702Gly) c.6857C>G (p.Ala2286Gly) c.10085C>G (p.Ala3362Gly) | gnomAD v4 |
8 | g.99868298C>T | CA371791731 | VPS13B | c.*394C>T (n.*394C>T) n.11370C>T c.*6982C>T (n.*6982C>T) c.11225C>T (p.Ala3742Val) c.11300C>T (p.Ala3767Val) n.242C>T c.11297C>T (p.Ala3766Val) c.11222C>T (p.Ala3741Val) c.10922C>T (p.Ala3641Val) c.8186C>T (p.Ala2729Val) c.7079C>T (p.Ala2360Val) c.11105C>T (p.Ala3702Val) c.6857C>T (p.Ala2286Val) c.10085C>T (p.Ala3362Val) | |
8 | g.99868299T>A | CA462339098 | VPS13B | c.*395T>A (n.*395T>A) n.11371T>A c.*6983T>A (n.*6983T>A) c.11226T>A (p.Ala3742=) c.11301T>A (p.Ala3767=) n.243T>A c.11298T>A (p.Ala3766=) c.11223T>A (p.Ala3741=) c.10923T>A (p.Ala3641=) c.8187T>A (p.Ala2729=) c.7080T>A (p.Ala2360=) c.11106T>A (p.Ala3702=) c.6858T>A (p.Ala2286=) c.10086T>A (p.Ala3362=) | |
8 | g.99868299T>C | CA462339099 | VPS13B | c.*395T>C (n.*395T>C) n.11371T>C c.*6983T>C (n.*6983T>C) c.11226T>C (p.Ala3742=) c.11301T>C (p.Ala3767=) n.243T>C c.11298T>C (p.Ala3766=) c.11223T>C (p.Ala3741=) c.10923T>C (p.Ala3641=) c.8187T>C (p.Ala2729=) c.7080T>C (p.Ala2360=) c.11106T>C (p.Ala3702=) c.6858T>C (p.Ala2286=) c.10086T>C (p.Ala3362=) | |
8 | g.99868299T>G | CA462339101 | VPS13B | c.*395T>G (n.*395T>G) n.11371T>G c.*6983T>G (n.*6983T>G) c.11226T>G (p.Ala3742=) c.11301T>G (p.Ala3767=) n.243T>G c.11298T>G (p.Ala3766=) c.11223T>G (p.Ala3741=) c.10923T>G (p.Ala3641=) c.8187T>G (p.Ala2729=) c.7080T>G (p.Ala2360=) c.11106T>G (p.Ala3702=) c.6858T>G (p.Ala2286=) c.10086T>G (p.Ala3362=) | |
8 | g.99868300G>A | CA4825190 | VPS13B | c.*396G>A (n.*396G>A) n.11372G>A c.*6984G>A (n.*6984G>A) c.11227G>A (p.Gly3743Ser) c.11302G>A (p.Gly3768Ser) n.244G>A c.11299G>A (p.Gly3767Ser) c.11224G>A (p.Gly3742Ser) c.10924G>A (p.Gly3642Ser) c.8188G>A (p.Gly2730Ser) c.7081G>A (p.Gly2361Ser) c.11107G>A (p.Gly3703Ser) c.6859G>A (p.Gly2287Ser) c.10087G>A (p.Gly3363Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.99868300G>C | CA371791734 | VPS13B | c.*396G>C (n.*396G>C) n.11372G>C c.*6984G>C (n.*6984G>C) c.11227G>C (p.Gly3743Arg) c.11302G>C (p.Gly3768Arg) n.244G>C c.11299G>C (p.Gly3767Arg) c.11224G>C (p.Gly3742Arg) c.10924G>C (p.Gly3642Arg) c.8188G>C (p.Gly2730Arg) c.7081G>C (p.Gly2361Arg) c.11107G>C (p.Gly3703Arg) c.6859G>C (p.Gly2287Arg) c.10087G>C (p.Gly3363Arg) | |
8 | g.99868300G>T | CA371791735 | VPS13B | c.*396G>T (n.*396G>T) n.11372G>T c.*6984G>T (n.*6984G>T) c.11227G>T (p.Gly3743Cys) c.11302G>T (p.Gly3768Cys) n.244G>T c.11299G>T (p.Gly3767Cys) c.11224G>T (p.Gly3742Cys) c.10924G>T (p.Gly3642Cys) c.8188G>T (p.Gly2730Cys) c.7081G>T (p.Gly2361Cys) c.11107G>T (p.Gly3703Cys) c.6859G>T (p.Gly2287Cys) c.10087G>T (p.Gly3363Cys) | |
8 | g.99868301G>A | CA371791739 | VPS13B | c.*397G>A (n.*397G>A) n.11373G>A c.*6985G>A (n.*6985G>A) c.11228G>A (p.Gly3743Asp) c.11303G>A (p.Gly3768Asp) n.245G>A c.11300G>A (p.Gly3767Asp) c.11225G>A (p.Gly3742Asp) c.10925G>A (p.Gly3642Asp) c.8189G>A (p.Gly2730Asp) c.7082G>A (p.Gly2361Asp) c.11108G>A (p.Gly3703Asp) c.6860G>A (p.Gly2287Asp) c.10088G>A (p.Gly3363Asp) | |
8 | g.99868301G>C | CA4825191 | VPS13B | c.*397G>C (n.*397G>C) n.11373G>C c.*6985G>C (n.*6985G>C) c.11228G>C (p.Gly3743Ala) c.11303G>C (p.Gly3768Ala) n.245G>C c.11300G>C (p.Gly3767Ala) c.11225G>C (p.Gly3742Ala) c.10925G>C (p.Gly3642Ala) c.8189G>C (p.Gly2730Ala) c.7082G>C (p.Gly2361Ala) c.11108G>C (p.Gly3703Ala) c.6860G>C (p.Gly2287Ala) c.10088G>C (p.Gly3363Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99868301G>T | CA371791741 | VPS13B | c.*397G>T (n.*397G>T) n.11373G>T c.*6985G>T (n.*6985G>T) c.11228G>T (p.Gly3743Val) c.11303G>T (p.Gly3768Val) n.245G>T c.11300G>T (p.Gly3767Val) c.11225G>T (p.Gly3742Val) c.10925G>T (p.Gly3642Val) c.8189G>T (p.Gly2730Val) c.7082G>T (p.Gly2361Val) c.11108G>T (p.Gly3703Val) c.6860G>T (p.Gly2287Val) c.10088G>T (p.Gly3363Val) | |
8 | g.99868302T>A | CA462339103 | VPS13B | c.*398T>A (n.*398T>A) n.11374T>A c.*6986T>A (n.*6986T>A) c.11229T>A (p.Gly3743=) c.11304T>A (p.Gly3768=) n.246T>A c.11301T>A (p.Gly3767=) c.11226T>A (p.Gly3742=) c.10926T>A (p.Gly3642=) c.8190T>A (p.Gly2730=) c.7083T>A (p.Gly2361=) c.11109T>A (p.Gly3703=) c.6861T>A (p.Gly2287=) c.10089T>A (p.Gly3363=) | dbSNP gnomAD v2 |
8 | g.99868302T>C | CA462339104 | VPS13B | c.*398T>C (n.*398T>C) n.11374T>C c.*6986T>C (n.*6986T>C) c.11229T>C (p.Gly3743=) c.11304T>C (p.Gly3768=) n.246T>C c.11301T>C (p.Gly3767=) c.11226T>C (p.Gly3742=) c.10926T>C (p.Gly3642=) c.8190T>C (p.Gly2730=) c.7083T>C (p.Gly2361=) c.11109T>C (p.Gly3703=) c.6861T>C (p.Gly2287=) c.10089T>C (p.Gly3363=) | |
8 | g.99868302T>G | CA462339105 | VPS13B | c.*398T>G (n.*398T>G) n.11374T>G c.*6986T>G (n.*6986T>G) c.11229T>G (p.Gly3743=) c.11304T>G (p.Gly3768=) n.246T>G c.11301T>G (p.Gly3767=) c.11226T>G (p.Gly3742=) c.10926T>G (p.Gly3642=) c.8190T>G (p.Gly2730=) c.7083T>G (p.Gly2361=) c.11109T>G (p.Gly3703=) c.6861T>G (p.Gly2287=) c.10089T>G (p.Gly3363=) | |
8 | g.99868303A>C | CA371791744 | VPS13B | c.*399A>C (n.*399A>C) n.11375A>C c.*6987A>C (n.*6987A>C) c.11230A>C (p.Ile3744Leu) c.11305A>C (p.Ile3769Leu) n.247A>C c.11302A>C (p.Ile3768Leu) c.11227A>C (p.Ile3743Leu) c.10927A>C (p.Ile3643Leu) c.8191A>C (p.Ile2731Leu) c.7084A>C (p.Ile2362Leu) c.11110A>C (p.Ile3704Leu) c.6862A>C (p.Ile2288Leu) c.10090A>C (p.Ile3364Leu) | |
8 | g.99868303A>G | CA371791745 | VPS13B | c.*399A>G (n.*399A>G) n.11375A>G c.*6987A>G (n.*6987A>G) c.11230A>G (p.Ile3744Val) c.11305A>G (p.Ile3769Val) n.247A>G c.11302A>G (p.Ile3768Val) c.11227A>G (p.Ile3743Val) c.10927A>G (p.Ile3643Val) c.8191A>G (p.Ile2731Val) c.7084A>G (p.Ile2362Val) c.11110A>G (p.Ile3704Val) c.6862A>G (p.Ile2288Val) c.10090A>G (p.Ile3364Val) | ClinVar gnomAD v4 |
8 | g.99868303A>T | CA371791747 | VPS13B | c.*399A>T (n.*399A>T) n.11375A>T c.*6987A>T (n.*6987A>T) c.11230A>T (p.Ile3744Leu) c.11305A>T (p.Ile3769Leu) n.247A>T c.11302A>T (p.Ile3768Leu) c.11227A>T (p.Ile3743Leu) c.10927A>T (p.Ile3643Leu) c.8191A>T (p.Ile2731Leu) c.7084A>T (p.Ile2362Leu) c.11110A>T (p.Ile3704Leu) c.6862A>T (p.Ile2288Leu) c.10090A>T (p.Ile3364Leu) | |
8 | g.99868304T>A | CA371791749 | VPS13B | c.*400T>A (n.*400T>A) n.11376T>A c.*6988T>A (n.*6988T>A) c.11231T>A (p.Ile3744Lys) c.11306T>A (p.Ile3769Lys) n.248T>A c.11303T>A (p.Ile3768Lys) c.11228T>A (p.Ile3743Lys) c.10928T>A (p.Ile3643Lys) c.8192T>A (p.Ile2731Lys) c.7085T>A (p.Ile2362Lys) c.11111T>A (p.Ile3704Lys) c.6863T>A (p.Ile2288Lys) c.10091T>A (p.Ile3364Lys) |