Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99868279G>A | CA2580079230 | VPS13B | c.*385-10G>A (n.*385-10G>A) n.11361-10G>A c.*6973-10G>A (n.*6973-10G>A) c.11216-10G>A (n.11216-10G>A) c.11291-10G>A (n.11291-10G>A) n.223G>A c.11288-10G>A (n.11288-10G>A) c.11213-10G>A (n.11213-10G>A) c.10913-10G>A (n.10913-10G>A) c.8177-10G>A (n.8177-10G>A) c.7070-10G>A (n.7070-10G>A) c.11096-10G>A (n.11096-10G>A) c.6848-10G>A (n.6848-10G>A) c.10076-10G>A (n.10076-10G>A) | ClinVar |
8 | g.99868279G>C | CA645556344 | VPS13B | c.*385-10G>C (n.*385-10G>C) n.11361-10G>C c.*6973-10G>C (n.*6973-10G>C) c.11216-10G>C (n.11216-10G>C) c.11291-10G>C (n.11291-10G>C) n.223G>C c.11288-10G>C (n.11288-10G>C) c.11213-10G>C (n.11213-10G>C) c.10913-10G>C (n.10913-10G>C) c.8177-10G>C (n.8177-10G>C) c.7070-10G>C (n.7070-10G>C) c.11096-10G>C (n.11096-10G>C) c.6848-10G>C (n.6848-10G>C) c.10076-10G>C (n.10076-10G>C) | COSMIC COSMIC |
8 | g.99868283T>C | CA4825184 | VPS13B | c.*385-6T>C (n.*385-6T>C) n.11361-6T>C c.*6973-6T>C (n.*6973-6T>C) c.11216-6T>C (n.11216-6T>C) c.11291-6T>C (n.11291-6T>C) n.227T>C c.11288-6T>C (n.11288-6T>C) c.11213-6T>C (n.11213-6T>C) c.10913-6T>C (n.10913-6T>C) c.8177-6T>C (n.8177-6T>C) c.7070-6T>C (n.7070-6T>C) c.11096-6T>C (n.11096-6T>C) c.6848-6T>C (n.6848-6T>C) c.10076-6T>C (n.10076-6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868283T= | CA2695196865 | VPS13B | c.*385-6T= (n.*385-6T=) n.11361-6T= c.*6973-6T= (n.*6973-6T=) c.11216-6T= (n.11216-6T=) c.11291-6T= (n.11291-6T=) n.227T= c.11288-6T= (n.11288-6T=) c.11213-6T= (n.11213-6T=) c.10913-6T= (n.10913-6T=) c.8177-6T= (n.8177-6T=) c.7070-6T= (n.7070-6T=) c.11096-6T= (n.11096-6T=) c.6848-6T= (n.6848-6T=) c.10076-6T= (n.10076-6T=) | |
8 | g.99868284T>G | CA4825185 | VPS13B | c.*385-5T>G (n.*385-5T>G) n.11361-5T>G c.*6973-5T>G (n.*6973-5T>G) c.11216-5T>G (n.11216-5T>G) c.11291-5T>G (n.11291-5T>G) n.228T>G c.11288-5T>G (n.11288-5T>G) c.11213-5T>G (n.11213-5T>G) c.10913-5T>G (n.10913-5T>G) c.8177-5T>G (n.8177-5T>G) c.7070-5T>G (n.7070-5T>G) c.11096-5T>G (n.11096-5T>G) c.6848-5T>G (n.6848-5T>G) c.10076-5T>G (n.10076-5T>G) | dbSNP ExAC gnomAD v4 |
8 | g.99868285C>A | CA583861055 | VPS13B | c.*385-4C>A (n.*385-4C>A) n.11361-4C>A c.*6973-4C>A (n.*6973-4C>A) c.11216-4C>A (n.11216-4C>A) c.11291-4C>A (n.11291-4C>A) n.229C>A c.11288-4C>A (n.11288-4C>A) c.11213-4C>A (n.11213-4C>A) c.10913-4C>A (n.10913-4C>A) c.8177-4C>A (n.8177-4C>A) c.7070-4C>A (n.7070-4C>A) c.11096-4C>A (n.11096-4C>A) c.6848-4C>A (n.6848-4C>A) c.10076-4C>A (n.10076-4C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868285C>T | CA2695209940 | VPS13B | c.*385-4C>T (n.*385-4C>T) n.11361-4C>T c.*6973-4C>T (n.*6973-4C>T) c.11216-4C>T (n.11216-4C>T) c.11291-4C>T (n.11291-4C>T) n.229C>T c.11288-4C>T (n.11288-4C>T) c.11213-4C>T (n.11213-4C>T) c.10913-4C>T (n.10913-4C>T) c.8177-4C>T (n.8177-4C>T) c.7070-4C>T (n.7070-4C>T) c.11096-4C>T (n.11096-4C>T) c.6848-4C>T (n.6848-4C>T) c.10076-4C>T (n.10076-4C>T) | |
8 | g.99868286C>G | CA4825186 | VPS13B | c.*385-3C>G (n.*385-3C>G) n.11361-3C>G c.*6973-3C>G (n.*6973-3C>G) c.11216-3C>G (n.11216-3C>G) c.11291-3C>G (n.11291-3C>G) n.230C>G c.11288-3C>G (n.11288-3C>G) c.11213-3C>G (n.11213-3C>G) c.10913-3C>G (n.10913-3C>G) c.8177-3C>G (n.8177-3C>G) c.7070-3C>G (n.7070-3C>G) c.11096-3C>G (n.11096-3C>G) c.6848-3C>G (n.6848-3C>G) c.10076-3C>G (n.10076-3C>G) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.99868287A>C | CA371791683 | VPS13B | c.*385-2A>C (n.*385-2A>C) n.11361-2A>C c.*6973-2A>C (n.*6973-2A>C) c.11216-2A>C (n.11216-2A>C) c.11291-2A>C (n.11291-2A>C) n.231A>C c.11288-2A>C (n.11288-2A>C) c.11213-2A>C (n.11213-2A>C) c.10913-2A>C (n.10913-2A>C) c.8177-2A>C (n.8177-2A>C) c.7070-2A>C (n.7070-2A>C) c.11096-2A>C (n.11096-2A>C) c.6848-2A>C (n.6848-2A>C) c.10076-2A>C (n.10076-2A>C) | |
8 | g.99868287A>G | CA182328506 | VPS13B | c.*385-2A>G (n.*385-2A>G) n.11361-2A>G c.*6973-2A>G (n.*6973-2A>G) c.11216-2A>G (n.11216-2A>G) c.11291-2A>G (n.11291-2A>G) n.231A>G c.11288-2A>G (n.11288-2A>G) c.11213-2A>G (n.11213-2A>G) c.10913-2A>G (n.10913-2A>G) c.8177-2A>G (n.8177-2A>G) c.7070-2A>G (n.7070-2A>G) c.11096-2A>G (n.11096-2A>G) c.6848-2A>G (n.6848-2A>G) c.10076-2A>G (n.10076-2A>G) | ClinVar dbSNP gnomAD v4 |
8 | g.99868287A>T | CA371791686 | VPS13B | c.*385-2A>T (n.*385-2A>T) n.11361-2A>T c.*6973-2A>T (n.*6973-2A>T) c.11216-2A>T (n.11216-2A>T) c.11291-2A>T (n.11291-2A>T) n.231A>T c.11288-2A>T (n.11288-2A>T) c.11213-2A>T (n.11213-2A>T) c.10913-2A>T (n.10913-2A>T) c.8177-2A>T (n.8177-2A>T) c.7070-2A>T (n.7070-2A>T) c.11096-2A>T (n.11096-2A>T) c.6848-2A>T (n.6848-2A>T) c.10076-2A>T (n.10076-2A>T) | |
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=) | ClinVar |
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) | |
8 | g.99868304T>C | CA182328607 | VPS13B | c.*400T>C (n.*400T>C) n.11376T>C c.*6988T>C (n.*6988T>C) c.11231T>C (p.Ile3744Thr) c.11306T>C (p.Ile3769Thr) n.248T>C c.11303T>C (p.Ile3768Thr) c.11228T>C (p.Ile3743Thr) c.10928T>C (p.Ile3643Thr) c.8192T>C (p.Ile2731Thr) c.7085T>C (p.Ile2362Thr) c.11111T>C (p.Ile3704Thr) c.6863T>C (p.Ile2288Thr) c.10091T>C (p.Ile3364Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.99868304T>G | CA182328605 | VPS13B | c.*400T>G (n.*400T>G) n.11376T>G c.*6988T>G (n.*6988T>G) c.11231T>G (p.Ile3744Arg) c.11306T>G (p.Ile3769Arg) n.248T>G c.11303T>G (p.Ile3768Arg) c.11228T>G (p.Ile3743Arg) c.10928T>G (p.Ile3643Arg) c.8192T>G (p.Ile2731Arg) c.7085T>G (p.Ile2362Arg) c.11111T>G (p.Ile3704Arg) c.6863T>G (p.Ile2288Arg) c.10091T>G (p.Ile3364Arg) | dbSNP gnomAD v4 |
8 | g.99868305A>C | CA462339111 | VPS13B | c.*401A>C (n.*401A>C) n.11377A>C c.*6989A>C (n.*6989A>C) c.11232A>C (p.Ile3744=) c.11307A>C (p.Ile3769=) n.249A>C c.11304A>C (p.Ile3768=) c.11229A>C (p.Ile3743=) c.10929A>C (p.Ile3643=) c.8193A>C (p.Ile2731=) c.7086A>C (p.Ile2362=) c.11112A>C (p.Ile3704=) c.6864A>C (p.Ile2288=) c.10092A>C (p.Ile3364=) | |
8 | g.99868305A>G | CA371791753 | VPS13B | c.*401A>G (n.*401A>G) n.11377A>G c.*6989A>G (n.*6989A>G) c.11232A>G (p.Ile3744Met) c.11307A>G (p.Ile3769Met) n.249A>G c.11304A>G (p.Ile3768Met) c.11229A>G (p.Ile3743Met) c.10929A>G (p.Ile3643Met) c.8193A>G (p.Ile2731Met) c.7086A>G (p.Ile2362Met) c.11112A>G (p.Ile3704Met) c.6864A>G (p.Ile2288Met) c.10092A>G (p.Ile3364Met) | |
8 | g.99868305A>T | CA462339110 | VPS13B | c.*401A>T (n.*401A>T) n.11377A>T c.*6989A>T (n.*6989A>T) c.11232A>T (p.Ile3744=) c.11307A>T (p.Ile3769=) n.249A>T c.11304A>T (p.Ile3768=) c.11229A>T (p.Ile3743=) c.10929A>T (p.Ile3643=) c.8193A>T (p.Ile2731=) c.7086A>T (p.Ile2362=) c.11112A>T (p.Ile3704=) c.6864A>T (p.Ile2288=) c.10092A>T (p.Ile3364=) | |
8 | g.99868306G>A | CA371791757 | VPS13B | c.*402G>A (n.*402G>A) n.11378G>A c.*6990G>A (n.*6990G>A) c.11233G>A (p.Val3745Ile) c.11308G>A (p.Val3770Ile) n.250G>A c.11305G>A (p.Val3769Ile) c.11230G>A (p.Val3744Ile) c.10930G>A (p.Val3644Ile) c.8194G>A (p.Val2732Ile) c.7087G>A (p.Val2363Ile) c.11113G>A (p.Val3705Ile) c.6865G>A (p.Val2289Ile) c.10093G>A (p.Val3365Ile) | |
8 | g.99868306G>C | CA371791759 | VPS13B | c.*402G>C (n.*402G>C) n.11378G>C c.*6990G>C (n.*6990G>C) c.11233G>C (p.Val3745Leu) c.11308G>C (p.Val3770Leu) n.250G>C c.11305G>C (p.Val3769Leu) c.11230G>C (p.Val3744Leu) c.10930G>C (p.Val3644Leu) c.8194G>C (p.Val2732Leu) c.7087G>C (p.Val2363Leu) c.11113G>C (p.Val3705Leu) c.6865G>C (p.Val2289Leu) c.10093G>C (p.Val3365Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868306G>T | CA182328608 | VPS13B | c.*402G>T (n.*402G>T) n.11378G>T c.*6990G>T (n.*6990G>T) c.11233G>T (p.Val3745Phe) c.11308G>T (p.Val3770Phe) n.250G>T c.11305G>T (p.Val3769Phe) c.11230G>T (p.Val3744Phe) c.10930G>T (p.Val3644Phe) c.8194G>T (p.Val2732Phe) c.7087G>T (p.Val2363Phe) c.11113G>T (p.Val3705Phe) c.6865G>T (p.Val2289Phe) c.10093G>T (p.Val3365Phe) | dbSNP |
8 | g.99868307T>A | CA371791761 | VPS13B | c.*403T>A (n.*403T>A) n.11379T>A c.*6991T>A (n.*6991T>A) c.11234T>A (p.Val3745Asp) c.11309T>A (p.Val3770Asp) n.251T>A c.11306T>A (p.Val3769Asp) c.11231T>A (p.Val3744Asp) c.10931T>A (p.Val3644Asp) c.8195T>A (p.Val2732Asp) c.7088T>A (p.Val2363Asp) c.11114T>A (p.Val3705Asp) c.6866T>A (p.Val2289Asp) c.10094T>A (p.Val3365Asp) | |
8 | g.99868307T>C | CA371791763 | VPS13B | c.*403T>C (n.*403T>C) n.11379T>C c.*6991T>C (n.*6991T>C) c.11234T>C (p.Val3745Ala) c.11309T>C (p.Val3770Ala) n.251T>C c.11306T>C (p.Val3769Ala) c.11231T>C (p.Val3744Ala) c.10931T>C (p.Val3644Ala) c.8195T>C (p.Val2732Ala) c.7088T>C (p.Val2363Ala) c.11114T>C (p.Val3705Ala) c.6866T>C (p.Val2289Ala) c.10094T>C (p.Val3365Ala) | gnomAD v4 |
8 | g.99868307T>G | CA371791764 | VPS13B | c.*403T>G (n.*403T>G) n.11379T>G c.*6991T>G (n.*6991T>G) c.11234T>G (p.Val3745Gly) c.11309T>G (p.Val3770Gly) n.251T>G c.11306T>G (p.Val3769Gly) c.11231T>G (p.Val3744Gly) c.10931T>G (p.Val3644Gly) c.8195T>G (p.Val2732Gly) c.7088T>G (p.Val2363Gly) c.11114T>G (p.Val3705Gly) c.6866T>G (p.Val2289Gly) c.10094T>G (p.Val3365Gly) | |
8 | g.99868308T>A | CA462339116 | VPS13B | c.*404T>A (n.*404T>A) n.11380T>A c.*6992T>A (n.*6992T>A) c.11235T>A (p.Val3745=) c.11310T>A (p.Val3770=) n.252T>A c.11307T>A (p.Val3769=) c.11232T>A (p.Val3744=) c.10932T>A (p.Val3644=) c.8196T>A (p.Val2732=) c.7089T>A (p.Val2363=) c.11115T>A (p.Val3705=) c.6867T>A (p.Val2289=) c.10095T>A (p.Val3365=) | |
8 | g.99868308T>C | CA462339117 | VPS13B | c.*404T>C (n.*404T>C) n.11380T>C c.*6992T>C (n.*6992T>C) c.11235T>C (p.Val3745=) c.11310T>C (p.Val3770=) n.252T>C c.11307T>C (p.Val3769=) c.11232T>C (p.Val3744=) c.10932T>C (p.Val3644=) c.8196T>C (p.Val2732=) c.7089T>C (p.Val2363=) c.11115T>C (p.Val3705=) c.6867T>C (p.Val2289=) c.10095T>C (p.Val3365=) | |
8 | g.99868308T>G | CA462339118 | VPS13B | c.*404T>G (n.*404T>G) n.11380T>G c.*6992T>G (n.*6992T>G) c.11235T>G (p.Val3745=) c.11310T>G (p.Val3770=) n.252T>G c.11307T>G (p.Val3769=) c.11232T>G (p.Val3744=) c.10932T>G (p.Val3644=) c.8196T>G (p.Val2732=) c.7089T>G (p.Val2363=) c.11115T>G (p.Val3705=) c.6867T>G (p.Val2289=) c.10095T>G (p.Val3365=) | |
8 | g.99868308_99868309del | CA913128147 | VPS13B | c.*404_*405del (n.*404_*405del) n.11380_11381del c.*6992_*6993del (n.*6992_*6993del) c.11235_11236del (p.Asp3746SerfsTer11) c.11310_11311del (p.Asp3771SerfsTer11) n.252_253del c.11307_11308del (p.Asp3770SerfsTer11) c.11232_11233del (p.Asp3745SerfsTer11) c.10932_10933del (p.Asp3645SerfsTer11) c.8196_8197del (p.Asp2733SerfsTer11) c.7089_7090del (p.Asp2364SerfsTer11) c.11115_11116del (p.Asp3706SerfsTer11) c.6867_6868del (p.Asp2290SerfsTer11) c.10095_10096del (p.Asp3366SerfsTer11) | |
8 | g.99868309del | CA658821917 | VPS13B | c.*405del (n.*405del) n.11381del c.*6993del (n.*6993del) c.11236del (p.Asp3746IlefsTer?) c.11311del (p.Asp3771IlefsTer?) n.253del c.11308del (p.Asp3770IlefsTer?) c.11233del (p.Asp3745IlefsTer?) c.10933del (p.Asp3645IlefsTer?) c.8197del (p.Asp2733IlefsTer?) c.7090del (p.Asp2364IlefsTer?) c.11116del (p.Asp3706IlefsTer?) c.6868del (p.Asp2290IlefsTer?) c.10096del (p.Asp3366IlefsTer?) | ClinVar dbSNP gnomAD v4 |
8 | g.99868309G>A | CA371791767 | VPS13B | c.*405G>A (n.*405G>A) n.11381G>A c.*6993G>A (n.*6993G>A) c.11236G>A (p.Asp3746Asn) c.11311G>A (p.Asp3771Asn) n.253G>A c.11308G>A (p.Asp3770Asn) c.11233G>A (p.Asp3745Asn) c.10933G>A (p.Asp3645Asn) c.8197G>A (p.Asp2733Asn) c.7090G>A (p.Asp2364Asn) c.11116G>A (p.Asp3706Asn) c.6868G>A (p.Asp2290Asn) c.10096G>A (p.Asp3366Asn) | gnomAD v4 |
8 | g.99868309G>C | CA371791768 | VPS13B | c.*405G>C (n.*405G>C) n.11381G>C c.*6993G>C (n.*6993G>C) c.11236G>C (p.Asp3746His) c.11311G>C (p.Asp3771His) n.253G>C c.11308G>C (p.Asp3770His) c.11233G>C (p.Asp3745His) c.10933G>C (p.Asp3645His) c.8197G>C (p.Asp2733His) c.7090G>C (p.Asp2364His) c.11116G>C (p.Asp3706His) c.6868G>C (p.Asp2290His) c.10096G>C (p.Asp3366His) | gnomAD v4 |
8 | g.99868309G>T | CA371791769 | VPS13B | c.*405G>T (n.*405G>T) n.11381G>T c.*6993G>T (n.*6993G>T) c.11236G>T (p.Asp3746Tyr) c.11311G>T (p.Asp3771Tyr) n.253G>T c.11308G>T (p.Asp3770Tyr) c.11233G>T (p.Asp3745Tyr) c.10933G>T (p.Asp3645Tyr) c.8197G>T (p.Asp2733Tyr) c.7090G>T (p.Asp2364Tyr) c.11116G>T (p.Asp3706Tyr) c.6868G>T (p.Asp2290Tyr) c.10096G>T (p.Asp3366Tyr) | |
8 | g.99868310A>C | CA371791771 | VPS13B | c.*406A>C (n.*406A>C) n.11382A>C c.*6994A>C (n.*6994A>C) c.11237A>C (p.Asp3746Ala) c.11312A>C (p.Asp3771Ala) n.254A>C c.11309A>C (p.Asp3770Ala) c.11234A>C (p.Asp3745Ala) c.10934A>C (p.Asp3645Ala) c.8198A>C (p.Asp2733Ala) c.7091A>C (p.Asp2364Ala) c.11117A>C (p.Asp3706Ala) c.6869A>C (p.Asp2290Ala) c.10097A>C (p.Asp3366Ala) | |
8 | g.99868310A>G | CA371791772 | VPS13B | c.*406A>G (n.*406A>G) n.11382A>G c.*6994A>G (n.*6994A>G) c.11237A>G (p.Asp3746Gly) c.11312A>G (p.Asp3771Gly) n.254A>G c.11309A>G (p.Asp3770Gly) c.11234A>G (p.Asp3745Gly) c.10934A>G (p.Asp3645Gly) c.8198A>G (p.Asp2733Gly) c.7091A>G (p.Asp2364Gly) c.11117A>G (p.Asp3706Gly) c.6869A>G (p.Asp2290Gly) c.10097A>G (p.Asp3366Gly) | |
8 | g.99868310A>T | CA371791774 | VPS13B | c.*406A>T (n.*406A>T) n.11382A>T c.*6994A>T (n.*6994A>T) c.11237A>T (p.Asp3746Val) c.11312A>T (p.Asp3771Val) n.254A>T c.11309A>T (p.Asp3770Val) c.11234A>T (p.Asp3745Val) c.10934A>T (p.Asp3645Val) c.8198A>T (p.Asp2733Val) c.7091A>T (p.Asp2364Val) c.11117A>T (p.Asp3706Val) c.6869A>T (p.Asp2290Val) c.10097A>T (p.Asp3366Val) | |
8 | g.99868311T>A | CA371791776 | VPS13B | c.*407T>A (n.*407T>A) n.11383T>A c.*6995T>A (n.*6995T>A) c.11238T>A (p.Asp3746Glu) c.11313T>A (p.Asp3771Glu) n.255T>A c.11310T>A (p.Asp3770Glu) c.11235T>A (p.Asp3745Glu) c.10935T>A (p.Asp3645Glu) c.8199T>A (p.Asp2733Glu) c.7092T>A (p.Asp2364Glu) c.11118T>A (p.Asp3706Glu) c.6870T>A (p.Asp2290Glu) c.10098T>A (p.Asp3366Glu) | |
8 | g.99868311T>C | CA462339120 | VPS13B | c.*407T>C (n.*407T>C) n.11383T>C c.*6995T>C (n.*6995T>C) c.11238T>C (p.Asp3746=) c.11313T>C (p.Asp3771=) n.255T>C c.11310T>C (p.Asp3770=) c.11235T>C (p.Asp3745=) c.10935T>C (p.Asp3645=) c.8199T>C (p.Asp2733=) c.7092T>C (p.Asp2364=) c.11118T>C (p.Asp3706=) c.6870T>C (p.Asp2290=) c.10098T>C (p.Asp3366=) | dbSNP |
8 | g.99868311T>G | CA371791777 | VPS13B | c.*407T>G (n.*407T>G) n.11383T>G c.*6995T>G (n.*6995T>G) c.11238T>G (p.Asp3746Glu) c.11313T>G (p.Asp3771Glu) n.255T>G c.11310T>G (p.Asp3770Glu) c.11235T>G (p.Asp3745Glu) c.10935T>G (p.Asp3645Glu) c.8199T>G (p.Asp2733Glu) c.7092T>G (p.Asp2364Glu) c.11118T>G (p.Asp3706Glu) c.6870T>G (p.Asp2290Glu) c.10098T>G (p.Asp3366Glu) | |
8 | g.99868312C>A | CA371791783 | VPS13B | c.*408C>A (n.*408C>A) n.11384C>A c.*6996C>A (n.*6996C>A) c.11239C>A (p.Gln3747Lys) c.11314C>A (p.Gln3772Lys) n.256C>A c.11311C>A (p.Gln3771Lys) c.11236C>A (p.Gln3746Lys) c.10936C>A (p.Gln3646Lys) c.8200C>A (p.Gln2734Lys) c.7093C>A (p.Gln2365Lys) c.11119C>A (p.Gln3707Lys) c.6871C>A (p.Gln2291Lys) c.10099C>A (p.Gln3367Lys) | |
8 | g.99868312C>G | CA371791781 | VPS13B | c.*408C>G (n.*408C>G) n.11384C>G c.*6996C>G (n.*6996C>G) c.11239C>G (p.Gln3747Glu) c.11314C>G (p.Gln3772Glu) n.256C>G c.11311C>G (p.Gln3771Glu) c.11236C>G (p.Gln3746Glu) c.10936C>G (p.Gln3646Glu) c.8200C>G (p.Gln2734Glu) c.7093C>G (p.Gln2365Glu) c.11119C>G (p.Gln3707Glu) c.6871C>G (p.Gln2291Glu) c.10099C>G (p.Gln3367Glu) | |
8 | g.99868312C>T | CA264008 | VPS13B | c.*408C>T (n.*408C>T) n.11384C>T c.*6996C>T (n.*6996C>T) c.11239C>T (p.Gln3747Ter) c.11314C>T (p.Gln3772Ter) n.256C>T c.11311C>T (p.Gln3771Ter) c.11236C>T (p.Gln3746Ter) c.10936C>T (p.Gln3646Ter) c.8200C>T (p.Gln2734Ter) c.7093C>T (p.Gln2365Ter) c.11119C>T (p.Gln3707Ter) c.6871C>T (p.Gln2291Ter) c.10099C>T (p.Gln3367Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868313A>C | CA371791784 | VPS13B | c.*409A>C (n.*409A>C) n.11385A>C c.*6997A>C (n.*6997A>C) c.11240A>C (p.Gln3747Pro) c.11315A>C (p.Gln3772Pro) n.257A>C c.11312A>C (p.Gln3771Pro) c.11237A>C (p.Gln3746Pro) c.10937A>C (p.Gln3646Pro) c.8201A>C (p.Gln2734Pro) c.7094A>C (p.Gln2365Pro) c.11120A>C (p.Gln3707Pro) c.6872A>C (p.Gln2291Pro) c.10100A>C (p.Gln3367Pro) | |
8 | g.99868313A>G | CA4825192 | VPS13B | c.*409A>G (n.*409A>G) n.11385A>G c.*6997A>G (n.*6997A>G) c.11240A>G (p.Gln3747Arg) c.11315A>G (p.Gln3772Arg) n.257A>G c.11312A>G (p.Gln3771Arg) c.11237A>G (p.Gln3746Arg) c.10937A>G (p.Gln3646Arg) c.8201A>G (p.Gln2734Arg) c.7094A>G (p.Gln2365Arg) c.11120A>G (p.Gln3707Arg) c.6872A>G (p.Gln2291Arg) c.10100A>G (p.Gln3367Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868313A>T | CA371791787 | VPS13B | c.*409A>T (n.*409A>T) n.11385A>T c.*6997A>T (n.*6997A>T) c.11240A>T (p.Gln3747Leu) c.11315A>T (p.Gln3772Leu) n.257A>T c.11312A>T (p.Gln3771Leu) c.11237A>T (p.Gln3746Leu) c.10937A>T (p.Gln3646Leu) c.8201A>T (p.Gln2734Leu) c.7094A>T (p.Gln2365Leu) c.11120A>T (p.Gln3707Leu) c.6872A>T (p.Gln2291Leu) c.10100A>T (p.Gln3367Leu) | dbSNP gnomAD v4 |
8 | g.99868314G>A | CA462339123 | VPS13B | c.*410G>A (n.*410G>A) n.11386G>A c.*6998G>A (n.*6998G>A) c.11241G>A (p.Gln3747=) c.11316G>A (p.Gln3772=) n.258G>A c.11313G>A (p.Gln3771=) c.11238G>A (p.Gln3746=) c.10938G>A (p.Gln3646=) c.8202G>A (p.Gln2734=) c.7095G>A (p.Gln2365=) c.11121G>A (p.Gln3707=) c.6873G>A (p.Gln2291=) c.10101G>A (p.Gln3367=) | |
8 | g.99868314G>C | CA371791789 | VPS13B | c.*410G>C (n.*410G>C) n.11386G>C c.*6998G>C (n.*6998G>C) c.11241G>C (p.Gln3747His) c.11316G>C (p.Gln3772His) n.258G>C c.11313G>C (p.Gln3771His) c.11238G>C (p.Gln3746His) c.10938G>C (p.Gln3646His) c.8202G>C (p.Gln2734His) c.7095G>C (p.Gln2365His) c.11121G>C (p.Gln3707His) c.6873G>C (p.Gln2291His) c.10101G>C (p.Gln3367His) | |
8 | g.99868314G>T | CA371791791 | VPS13B | c.*410G>T (n.*410G>T) n.11386G>T c.*6998G>T (n.*6998G>T) c.11241G>T (p.Gln3747His) c.11316G>T (p.Gln3772His) n.258G>T c.11313G>T (p.Gln3771His) c.11238G>T (p.Gln3746His) c.10938G>T (p.Gln3646His) c.8202G>T (p.Gln2734His) c.7095G>T (p.Gln2365His) c.11121G>T (p.Gln3707His) c.6873G>T (p.Gln2291His) c.10101G>T (p.Gln3367His) | |
8 | g.99868315C>A | CA371791793 | VPS13B | c.*411C>A (n.*411C>A) n.11387C>A c.*6999C>A (n.*6999C>A) c.11242C>A (p.Pro3748Thr) c.11317C>A (p.Pro3773Thr) n.259C>A c.11314C>A (p.Pro3772Thr) c.11239C>A (p.Pro3747Thr) c.10939C>A (p.Pro3647Thr) c.8203C>A (p.Pro2735Thr) c.7096C>A (p.Pro2366Thr) c.11122C>A (p.Pro3708Thr) c.6874C>A (p.Pro2292Thr) c.10102C>A (p.Pro3368Thr) | ClinVar dbSNP |
8 | g.99868315C>G | CA371791795 | VPS13B | c.*411C>G (n.*411C>G) n.11387C>G c.*6999C>G (n.*6999C>G) c.11242C>G (p.Pro3748Ala) c.11317C>G (p.Pro3773Ala) n.259C>G c.11314C>G (p.Pro3772Ala) c.11239C>G (p.Pro3747Ala) c.10939C>G (p.Pro3647Ala) c.8203C>G (p.Pro2735Ala) c.7096C>G (p.Pro2366Ala) c.11122C>G (p.Pro3708Ala) c.6874C>G (p.Pro2292Ala) c.10102C>G (p.Pro3368Ala) | |
8 | g.99868315C>T | CA371791796 | VPS13B | c.*411C>T (n.*411C>T) n.11387C>T c.*6999C>T (n.*6999C>T) c.11242C>T (p.Pro3748Ser) c.11317C>T (p.Pro3773Ser) n.259C>T c.11314C>T (p.Pro3772Ser) c.11239C>T (p.Pro3747Ser) c.10939C>T (p.Pro3647Ser) c.8203C>T (p.Pro2735Ser) c.7096C>T (p.Pro2366Ser) c.11122C>T (p.Pro3708Ser) c.6874C>T (p.Pro2292Ser) c.10102C>T (p.Pro3368Ser) | |
8 | g.99868316C>A | CA371791799 | VPS13B | c.*412C>A (n.*412C>A) n.11388C>A c.*7000C>A (n.*7000C>A) c.11243C>A (p.Pro3748Gln) c.11318C>A (p.Pro3773Gln) n.260C>A c.11315C>A (p.Pro3772Gln) c.11240C>A (p.Pro3747Gln) c.10940C>A (p.Pro3647Gln) c.8204C>A (p.Pro2735Gln) c.7097C>A (p.Pro2366Gln) c.11123C>A (p.Pro3708Gln) c.6875C>A (p.Pro2292Gln) c.10103C>A (p.Pro3368Gln) | COSMIC COSMIC |
8 | g.99868316C>G | CA371791800 | VPS13B | c.*412C>G (n.*412C>G) n.11388C>G c.*7000C>G (n.*7000C>G) c.11243C>G (p.Pro3748Arg) c.11318C>G (p.Pro3773Arg) n.260C>G c.11315C>G (p.Pro3772Arg) c.11240C>G (p.Pro3747Arg) c.10940C>G (p.Pro3647Arg) c.8204C>G (p.Pro2735Arg) c.7097C>G (p.Pro2366Arg) c.11123C>G (p.Pro3708Arg) c.6875C>G (p.Pro2292Arg) c.10103C>G (p.Pro3368Arg) | gnomAD v4 |
8 | g.99868316C>T | CA371791802 | VPS13B | c.*412C>T (n.*412C>T) n.11388C>T c.*7000C>T (n.*7000C>T) c.11243C>T (p.Pro3748Leu) c.11318C>T (p.Pro3773Leu) n.260C>T c.11315C>T (p.Pro3772Leu) c.11240C>T (p.Pro3747Leu) c.10940C>T (p.Pro3647Leu) c.8204C>T (p.Pro2735Leu) c.7097C>T (p.Pro2366Leu) c.11123C>T (p.Pro3708Leu) c.6875C>T (p.Pro2292Leu) c.10103C>T (p.Pro3368Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868317G>A | CA4825194 | VPS13B | c.*413G>A (n.*413G>A) n.11389G>A c.*7001G>A (n.*7001G>A) c.11244G>A (p.Pro3748=) c.11319G>A (p.Pro3773=) n.261G>A c.11316G>A (p.Pro3772=) c.11241G>A (p.Pro3747=) c.10941G>A (p.Pro3647=) c.8205G>A (p.Pro2735=) c.7098G>A (p.Pro2366=) c.11124G>A (p.Pro3708=) c.6876G>A (p.Pro2292=) c.10104G>A (p.Pro3368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868317G>C | CA4825193 | VPS13B | c.*413G>C (n.*413G>C) n.11389G>C c.*7001G>C (n.*7001G>C) c.11244G>C (p.Pro3748=) c.11319G>C (p.Pro3773=) n.261G>C c.11316G>C (p.Pro3772=) c.11241G>C (p.Pro3747=) c.10941G>C (p.Pro3647=) c.8205G>C (p.Pro2735=) c.7098G>C (p.Pro2366=) c.11124G>C (p.Pro3708=) c.6876G>C (p.Pro2292=) c.10104G>C (p.Pro3368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868317G>T | CA462339128 | VPS13B | c.*413G>T (n.*413G>T) n.11389G>T c.*7001G>T (n.*7001G>T) c.11244G>T (p.Pro3748=) c.11319G>T (p.Pro3773=) n.261G>T c.11316G>T (p.Pro3772=) c.11241G>T (p.Pro3747=) c.10941G>T (p.Pro3647=) c.8205G>T (p.Pro2735=) c.7098G>T (p.Pro2366=) c.11124G>T (p.Pro3708=) c.6876G>T (p.Pro2292=) c.10104G>T (p.Pro3368=) | |
8 | g.99868318A>C | CA371791809 | VPS13B | c.*414A>C (n.*414A>C) n.11390A>C c.*7002A>C (n.*7002A>C) c.11245A>C (p.Met3749Leu) c.11320A>C (p.Met3774Leu) n.262A>C c.11317A>C (p.Met3773Leu) c.11242A>C (p.Met3748Leu) c.10942A>C (p.Met3648Leu) c.8206A>C (p.Met2736Leu) c.7099A>C (p.Met2367Leu) c.11125A>C (p.Met3709Leu) c.6877A>C (p.Met2293Leu) c.10105A>C (p.Met3369Leu) | |
8 | g.99868318A>G | CA371791810 | VPS13B | c.*414A>G (n.*414A>G) n.11390A>G c.*7002A>G (n.*7002A>G) c.11245A>G (p.Met3749Val) c.11320A>G (p.Met3774Val) n.262A>G c.11317A>G (p.Met3773Val) c.11242A>G (p.Met3748Val) c.10942A>G (p.Met3648Val) c.8206A>G (p.Met2736Val) c.7099A>G (p.Met2367Val) c.11125A>G (p.Met3709Val) c.6877A>G (p.Met2293Val) c.10105A>G (p.Met3369Val) | gnomAD v4 |
8 | g.99868318A>T | CA371791807 | VPS13B | c.*414A>T (n.*414A>T) n.11390A>T c.*7002A>T (n.*7002A>T) c.11245A>T (p.Met3749Leu) c.11320A>T (p.Met3774Leu) n.262A>T c.11317A>T (p.Met3773Leu) c.11242A>T (p.Met3748Leu) c.10942A>T (p.Met3648Leu) c.8206A>T (p.Met2736Leu) c.7099A>T (p.Met2367Leu) c.11125A>T (p.Met3709Leu) c.6877A>T (p.Met2293Leu) c.10105A>T (p.Met3369Leu) | |
8 | g.99868319T>A | CA371791815 | VPS13B | c.*415T>A (n.*415T>A) n.11391T>A c.*7003T>A (n.*7003T>A) c.11246T>A (p.Met3749Lys) c.11321T>A (p.Met3774Lys) n.263T>A c.11318T>A (p.Met3773Lys) c.11243T>A (p.Met3748Lys) c.10943T>A (p.Met3648Lys) c.8207T>A (p.Met2736Lys) c.7100T>A (p.Met2367Lys) c.11126T>A (p.Met3709Lys) c.6878T>A (p.Met2293Lys) c.10106T>A (p.Met3369Lys) | |
8 | g.99868319T>C | CA182328632 | VPS13B | c.*415T>C (n.*415T>C) n.11391T>C c.*7003T>C (n.*7003T>C) c.11246T>C (p.Met3749Thr) c.11321T>C (p.Met3774Thr) n.263T>C c.11318T>C (p.Met3773Thr) c.11243T>C (p.Met3748Thr) c.10943T>C (p.Met3648Thr) c.8207T>C (p.Met2736Thr) c.7100T>C (p.Met2367Thr) c.11126T>C (p.Met3709Thr) c.6878T>C (p.Met2293Thr) c.10106T>C (p.Met3369Thr) | dbSNP gnomAD v4 |
8 | g.99868319T>G | CA371791813 | VPS13B | c.*415T>G (n.*415T>G) n.11391T>G c.*7003T>G (n.*7003T>G) c.11246T>G (p.Met3749Arg) c.11321T>G (p.Met3774Arg) n.263T>G c.11318T>G (p.Met3773Arg) c.11243T>G (p.Met3748Arg) c.10943T>G (p.Met3648Arg) c.8207T>G (p.Met2736Arg) c.7100T>G (p.Met2367Arg) c.11126T>G (p.Met3709Arg) c.6878T>G (p.Met2293Arg) c.10106T>G (p.Met3369Arg) | |
8 | g.99868320G>A | CA371791816 | VPS13B | c.*416G>A (n.*416G>A) n.11392G>A c.*7004G>A (n.*7004G>A) c.11247G>A (p.Met3749Ile) c.11322G>A (p.Met3774Ile) n.264G>A c.11319G>A (p.Met3773Ile) c.11244G>A (p.Met3748Ile) c.10944G>A (p.Met3648Ile) c.8208G>A (p.Met2736Ile) c.7101G>A (p.Met2367Ile) c.11127G>A (p.Met3709Ile) c.6879G>A (p.Met2293Ile) c.10107G>A (p.Met3369Ile) | gnomAD v4 |
8 | g.99868320G>C | CA371791817 | VPS13B | c.*416G>C (n.*416G>C) n.11392G>C c.*7004G>C (n.*7004G>C) c.11247G>C (p.Met3749Ile) c.11322G>C (p.Met3774Ile) n.264G>C c.11319G>C (p.Met3773Ile) c.11244G>C (p.Met3748Ile) c.10944G>C (p.Met3648Ile) c.8208G>C (p.Met2736Ile) c.7101G>C (p.Met2367Ile) c.11127G>C (p.Met3709Ile) c.6879G>C (p.Met2293Ile) c.10107G>C (p.Met3369Ile) | |
8 | g.99868320G>T | CA371791819 | VPS13B | c.*416G>T (n.*416G>T) n.11392G>T c.*7004G>T (n.*7004G>T) c.11247G>T (p.Met3749Ile) c.11322G>T (p.Met3774Ile) n.264G>T c.11319G>T (p.Met3773Ile) c.11244G>T (p.Met3748Ile) c.10944G>T (p.Met3648Ile) c.8208G>T (p.Met2736Ile) c.7101G>T (p.Met2367Ile) c.11127G>T (p.Met3709Ile) c.6879G>T (p.Met2293Ile) c.10107G>T (p.Met3369Ile) | |
8 | g.99868321C>A | CA182328634 | VPS13B | c.*417C>A (n.*417C>A) n.11393C>A c.*7005C>A (n.*7005C>A) c.11248C>A (p.Gln3750Lys) c.11323C>A (p.Gln3775Lys) n.265C>A c.11320C>A (p.Gln3774Lys) c.11245C>A (p.Gln3749Lys) c.10945C>A (p.Gln3649Lys) c.8209C>A (p.Gln2737Lys) c.7102C>A (p.Gln2368Lys) c.11128C>A (p.Gln3710Lys) c.6880C>A (p.Gln2294Lys) c.10108C>A (p.Gln3370Lys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99868321C>G | CA371791821 | VPS13B | c.*417C>G (n.*417C>G) n.11393C>G c.*7005C>G (n.*7005C>G) c.11248C>G (p.Gln3750Glu) c.11323C>G (p.Gln3775Glu) n.265C>G c.11320C>G (p.Gln3774Glu) c.11245C>G (p.Gln3749Glu) c.10945C>G (p.Gln3649Glu) c.8209C>G (p.Gln2737Glu) c.7102C>G (p.Gln2368Glu) c.11128C>G (p.Gln3710Glu) c.6880C>G (p.Gln2294Glu) c.10108C>G (p.Gln3370Glu) | |
8 | g.99868321C>T | CA371791822 | VPS13B | c.*417C>T (n.*417C>T) n.11393C>T c.*7005C>T (n.*7005C>T) c.11248C>T (p.Gln3750Ter) c.11323C>T (p.Gln3775Ter) n.265C>T c.11320C>T (p.Gln3774Ter) c.11245C>T (p.Gln3749Ter) c.10945C>T (p.Gln3649Ter) c.8209C>T (p.Gln2737Ter) c.7102C>T (p.Gln2368Ter) c.11128C>T (p.Gln3710Ter) c.6880C>T (p.Gln2294Ter) c.10108C>T (p.Gln3370Ter) | |
8 | g.99868322A>C | CA371791825 | VPS13B | c.*418A>C (n.*418A>C) n.11394A>C c.*7006A>C (n.*7006A>C) c.11249A>C (p.Gln3750Pro) c.11324A>C (p.Gln3775Pro) n.266A>C c.11321A>C (p.Gln3774Pro) c.11246A>C (p.Gln3749Pro) c.10946A>C (p.Gln3649Pro) c.8210A>C (p.Gln2737Pro) c.7103A>C (p.Gln2368Pro) c.11129A>C (p.Gln3710Pro) c.6881A>C (p.Gln2294Pro) c.10109A>C (p.Gln3370Pro) | |
8 | g.99868322A>G | CA371791826 | VPS13B | c.*418A>G (n.*418A>G) n.11394A>G c.*7006A>G (n.*7006A>G) c.11249A>G (p.Gln3750Arg) c.11324A>G (p.Gln3775Arg) n.266A>G c.11321A>G (p.Gln3774Arg) c.11246A>G (p.Gln3749Arg) c.10946A>G (p.Gln3649Arg) c.8210A>G (p.Gln2737Arg) c.7103A>G (p.Gln2368Arg) c.11129A>G (p.Gln3710Arg) c.6881A>G (p.Gln2294Arg) c.10109A>G (p.Gln3370Arg) | |
8 | g.99868322A>T | CA371791827 | VPS13B | c.*418A>T (n.*418A>T) n.11394A>T c.*7006A>T (n.*7006A>T) c.11249A>T (p.Gln3750Leu) c.11324A>T (p.Gln3775Leu) n.266A>T c.11321A>T (p.Gln3774Leu) c.11246A>T (p.Gln3749Leu) c.10946A>T (p.Gln3649Leu) c.8210A>T (p.Gln2737Leu) c.7103A>T (p.Gln2368Leu) c.11129A>T (p.Gln3710Leu) c.6881A>T (p.Gln2294Leu) c.10109A>T (p.Gln3370Leu) | |
8 | g.99868322dup | CA2838442266 | VPS13B | c.*418dup (n.*418dup) n.11394dup c.*7006dup (n.*7006dup) c.11249dup (p.Asn3751GlufsTer7) c.11324dup (p.Asn3776GlufsTer7) n.266dup c.11321dup (p.Asn3775GlufsTer7) c.11246dup (p.Asn3750GlufsTer7) c.10946dup (p.Asn3650GlufsTer7) c.8210dup (p.Asn2738GlufsTer7) c.7103dup (p.Asn2369GlufsTer7) c.11129dup (p.Asn3711GlufsTer7) c.6881dup (p.Asn2295GlufsTer7) c.10109dup (p.Asn3371GlufsTer7) | |
8 | g.99868323G>A | CA462339137 | VPS13B | c.*419G>A (n.*419G>A) n.11395G>A c.*7007G>A (n.*7007G>A) c.11250G>A (p.Gln3750=) c.11325G>A (p.Gln3775=) n.267G>A c.11322G>A (p.Gln3774=) c.11247G>A (p.Gln3749=) c.10947G>A (p.Gln3649=) c.8211G>A (p.Gln2737=) c.7104G>A (p.Gln2368=) c.11130G>A (p.Gln3710=) c.6882G>A (p.Gln2294=) c.10110G>A (p.Gln3370=) | |
8 | g.99868323G>C | CA371791830 | VPS13B | c.*419G>C (n.*419G>C) n.11395G>C c.*7007G>C (n.*7007G>C) c.11250G>C (p.Gln3750His) c.11325G>C (p.Gln3775His) n.267G>C c.11322G>C (p.Gln3774His) c.11247G>C (p.Gln3749His) c.10947G>C (p.Gln3649His) c.8211G>C (p.Gln2737His) c.7104G>C (p.Gln2368His) c.11130G>C (p.Gln3710His) c.6882G>C (p.Gln2294His) c.10110G>C (p.Gln3370His) | dbSNP |
8 | g.99868323G>T | CA371791832 | VPS13B | c.*419G>T (n.*419G>T) n.11395G>T c.*7007G>T (n.*7007G>T) c.11250G>T (p.Gln3750His) c.11325G>T (p.Gln3775His) n.267G>T c.11322G>T (p.Gln3774His) c.11247G>T (p.Gln3749His) c.10947G>T (p.Gln3649His) c.8211G>T (p.Gln2737His) c.7104G>T (p.Gln2368His) c.11130G>T (p.Gln3710His) c.6882G>T (p.Gln2294His) c.10110G>T (p.Gln3370His) | |
8 | g.99868324A>C | CA371791833 | VPS13B | c.*420A>C (n.*420A>C) n.11396A>C c.*7008A>C (n.*7008A>C) c.11251A>C (p.Asn3751His) c.11326A>C (p.Asn3776His) n.268A>C c.11323A>C (p.Asn3775His) c.11248A>C (p.Asn3750His) c.10948A>C (p.Asn3650His) c.8212A>C (p.Asn2738His) c.7105A>C (p.Asn2369His) c.11131A>C (p.Asn3711His) c.6883A>C (p.Asn2295His) c.10111A>C (p.Asn3371His) | |
8 | g.99868324A>G | CA371791837 | VPS13B | c.*420A>G (n.*420A>G) n.11396A>G c.*7008A>G (n.*7008A>G) c.11251A>G (p.Asn3751Asp) c.11326A>G (p.Asn3776Asp) n.268A>G c.11323A>G (p.Asn3775Asp) c.11248A>G (p.Asn3750Asp) c.10948A>G (p.Asn3650Asp) c.8212A>G (p.Asn2738Asp) c.7105A>G (p.Asn2369Asp) c.11131A>G (p.Asn3711Asp) c.6883A>G (p.Asn2295Asp) c.10111A>G (p.Asn3371Asp) | |
8 | g.99868324A>T | CA371791835 | VPS13B | c.*420A>T (n.*420A>T) n.11396A>T c.*7008A>T (n.*7008A>T) c.11251A>T (p.Asn3751Tyr) c.11326A>T (p.Asn3776Tyr) n.268A>T c.11323A>T (p.Asn3775Tyr) c.11248A>T (p.Asn3750Tyr) c.10948A>T (p.Asn3650Tyr) c.8212A>T (p.Asn2738Tyr) c.7105A>T (p.Asn2369Tyr) c.11131A>T (p.Asn3711Tyr) c.6883A>T (p.Asn2295Tyr) c.10111A>T (p.Asn3371Tyr) | |
8 | g.99868325del | CA2499219495 | VPS13B | c.*421del (n.*421del) n.11397del c.*7009del (n.*7009del) c.11252del (p.Asn3751ThrfsTer?) c.11327del (p.Asn3776ThrfsTer?) n.269del c.11324del (p.Asn3775ThrfsTer?) c.11249del (p.Asn3750ThrfsTer?) c.10949del (p.Asn3650ThrfsTer?) c.8213del (p.Asn2738ThrfsTer?) c.7106del (p.Asn2369ThrfsTer?) c.11132del (p.Asn3711ThrfsTer?) c.6884del (p.Asn2295ThrfsTer?) c.10112del (p.Asn3371ThrfsTer?) | ClinVar dbSNP |
8 | g.99868325A>C | CA371791839 | VPS13B | c.*421A>C (n.*421A>C) n.11397A>C c.*7009A>C (n.*7009A>C) c.11252A>C (p.Asn3751Thr) c.11327A>C (p.Asn3776Thr) n.269A>C c.11324A>C (p.Asn3775Thr) c.11249A>C (p.Asn3750Thr) c.10949A>C (p.Asn3650Thr) c.8213A>C (p.Asn2738Thr) c.7106A>C (p.Asn2369Thr) c.11132A>C (p.Asn3711Thr) c.6884A>C (p.Asn2295Thr) c.10112A>C (p.Asn3371Thr) | |
8 | g.99868325A>G | CA371791841 | VPS13B | c.*421A>G (n.*421A>G) n.11397A>G c.*7009A>G (n.*7009A>G) c.11252A>G (p.Asn3751Ser) c.11327A>G (p.Asn3776Ser) n.269A>G c.11324A>G (p.Asn3775Ser) c.11249A>G (p.Asn3750Ser) c.10949A>G (p.Asn3650Ser) c.8213A>G (p.Asn2738Ser) c.7106A>G (p.Asn2369Ser) c.11132A>G (p.Asn3711Ser) c.6884A>G (p.Asn2295Ser) c.10112A>G (p.Asn3371Ser) | |
8 | g.99868325A>T | CA371791843 | VPS13B | c.*421A>T (n.*421A>T) n.11397A>T c.*7009A>T (n.*7009A>T) c.11252A>T (p.Asn3751Ile) c.11327A>T (p.Asn3776Ile) n.269A>T c.11324A>T (p.Asn3775Ile) c.11249A>T (p.Asn3750Ile) c.10949A>T (p.Asn3650Ile) c.8213A>T (p.Asn2738Ile) c.7106A>T (p.Asn2369Ile) c.11132A>T (p.Asn3711Ile) c.6884A>T (p.Asn2295Ile) c.10112A>T (p.Asn3371Ile) | ClinVar dbSNP gnomAD v4 |
8 | g.99868326C>A | CA371791845 | VPS13B | c.*422C>A (n.*422C>A) n.11398C>A c.*7010C>A (n.*7010C>A) c.11253C>A (p.Asn3751Lys) c.11328C>A (p.Asn3776Lys) n.270C>A c.11325C>A (p.Asn3775Lys) c.11250C>A (p.Asn3750Lys) c.10950C>A (p.Asn3650Lys) c.8214C>A (p.Asn2738Lys) c.7107C>A (p.Asn2369Lys) c.11133C>A (p.Asn3711Lys) c.6885C>A (p.Asn2295Lys) c.10113C>A (p.Asn3371Lys) | |
8 | g.99868326C>G | CA371791846 | VPS13B | c.*422C>G (n.*422C>G) n.11398C>G c.*7010C>G (n.*7010C>G) c.11253C>G (p.Asn3751Lys) c.11328C>G (p.Asn3776Lys) n.270C>G c.11325C>G (p.Asn3775Lys) c.11250C>G (p.Asn3750Lys) c.10950C>G (p.Asn3650Lys) c.8214C>G (p.Asn2738Lys) c.7107C>G (p.Asn2369Lys) c.11133C>G (p.Asn3711Lys) c.6885C>G (p.Asn2295Lys) c.10113C>G (p.Asn3371Lys) | |
8 | g.99868326C>T | CA462339140 | VPS13B | c.*422C>T (n.*422C>T) n.11398C>T c.*7010C>T (n.*7010C>T) c.11253C>T (p.Asn3751=) c.11328C>T (p.Asn3776=) n.270C>T c.11325C>T (p.Asn3775=) c.11250C>T (p.Asn3750=) c.10950C>T (p.Asn3650=) c.8214C>T (p.Asn2738=) c.7107C>T (p.Asn2369=) c.11133C>T (p.Asn3711=) c.6885C>T (p.Asn2295=) c.10113C>T (p.Asn3371=) | |
8 | g.99868327T>A | CA371791849 | VPS13B | c.*423T>A (n.*423T>A) n.11399T>A c.*7011T>A (n.*7011T>A) c.11254T>A (p.Phe3752Ile) c.11329T>A (p.Phe3777Ile) n.271T>A c.11326T>A (p.Phe3776Ile) c.11251T>A (p.Phe3751Ile) c.10951T>A (p.Phe3651Ile) c.8215T>A (p.Phe2739Ile) c.7108T>A (p.Phe2370Ile) c.11134T>A (p.Phe3712Ile) c.6886T>A (p.Phe2296Ile) c.10114T>A (p.Phe3372Ile) | |
8 | g.99868327T>C | CA371791850 | VPS13B | c.*423T>C (n.*423T>C) n.11399T>C c.*7011T>C (n.*7011T>C) c.11254T>C (p.Phe3752Leu) c.11329T>C (p.Phe3777Leu) n.271T>C c.11326T>C (p.Phe3776Leu) c.11251T>C (p.Phe3751Leu) c.10951T>C (p.Phe3651Leu) c.8215T>C (p.Phe2739Leu) c.7108T>C (p.Phe2370Leu) c.11134T>C (p.Phe3712Leu) c.6886T>C (p.Phe2296Leu) c.10114T>C (p.Phe3372Leu) | |
8 | g.99868327T>G | CA371791851 | VPS13B | c.*423T>G (n.*423T>G) n.11399T>G c.*7011T>G (n.*7011T>G) c.11254T>G (p.Phe3752Val) c.11329T>G (p.Phe3777Val) n.271T>G c.11326T>G (p.Phe3776Val) c.11251T>G (p.Phe3751Val) c.10951T>G (p.Phe3651Val) c.8215T>G (p.Phe2739Val) c.7108T>G (p.Phe2370Val) c.11134T>G (p.Phe3712Val) c.6886T>G (p.Phe2296Val) c.10114T>G (p.Phe3372Val) | |
8 | g.99868328T>A | CA371791854 | VPS13B | c.*424T>A (n.*424T>A) n.11400T>A c.*7012T>A (n.*7012T>A) c.11255T>A (p.Phe3752Tyr) c.11330T>A (p.Phe3777Tyr) n.272T>A c.11327T>A (p.Phe3776Tyr) c.11252T>A (p.Phe3751Tyr) c.10952T>A (p.Phe3651Tyr) c.8216T>A (p.Phe2739Tyr) c.7109T>A (p.Phe2370Tyr) c.11135T>A (p.Phe3712Tyr) c.6887T>A (p.Phe2296Tyr) c.10115T>A (p.Phe3372Tyr) | |
8 | g.99868328T>C | CA371791856 | VPS13B | c.*424T>C (n.*424T>C) n.11400T>C c.*7012T>C (n.*7012T>C) c.11255T>C (p.Phe3752Ser) c.11330T>C (p.Phe3777Ser) n.272T>C c.11327T>C (p.Phe3776Ser) c.11252T>C (p.Phe3751Ser) c.10952T>C (p.Phe3651Ser) c.8216T>C (p.Phe2739Ser) c.7109T>C (p.Phe2370Ser) c.11135T>C (p.Phe3712Ser) c.6887T>C (p.Phe2296Ser) c.10115T>C (p.Phe3372Ser) | |
8 | g.99868328T>G | CA371791857 | VPS13B | c.*424T>G (n.*424T>G) n.11400T>G c.*7012T>G (n.*7012T>G) c.11255T>G (p.Phe3752Cys) c.11330T>G (p.Phe3777Cys) n.272T>G c.11327T>G (p.Phe3776Cys) c.11252T>G (p.Phe3751Cys) c.10952T>G (p.Phe3651Cys) c.8216T>G (p.Phe2739Cys) c.7109T>G (p.Phe2370Cys) c.11135T>G (p.Phe3712Cys) c.6887T>G (p.Phe2296Cys) c.10115T>G (p.Phe3372Cys) | |
8 | g.99868329C>A | CA371791861 | VPS13B | c.*425C>A (n.*425C>A) n.11401C>A c.*7013C>A (n.*7013C>A) c.11256C>A (p.Phe3752Leu) c.11331C>A (p.Phe3777Leu) n.273C>A c.11328C>A (p.Phe3776Leu) c.11253C>A (p.Phe3751Leu) c.10953C>A (p.Phe3651Leu) c.8217C>A (p.Phe2739Leu) c.7110C>A (p.Phe2370Leu) c.11136C>A (p.Phe3712Leu) c.6888C>A (p.Phe2296Leu) c.10116C>A (p.Phe3372Leu) | |
8 | g.99868329C>G | CA371791860 | VPS13B | c.*425C>G (n.*425C>G) n.11401C>G c.*7013C>G (n.*7013C>G) c.11256C>G (p.Phe3752Leu) c.11331C>G (p.Phe3777Leu) n.273C>G c.11328C>G (p.Phe3776Leu) c.11253C>G (p.Phe3751Leu) c.10953C>G (p.Phe3651Leu) c.8217C>G (p.Phe2739Leu) c.7110C>G (p.Phe2370Leu) c.11136C>G (p.Phe3712Leu) c.6888C>G (p.Phe2296Leu) c.10116C>G (p.Phe3372Leu) | |
8 | g.99868329C>T | CA462339147 | VPS13B | c.*425C>T (n.*425C>T) n.11401C>T c.*7013C>T (n.*7013C>T) c.11256C>T (p.Phe3752=) c.11331C>T (p.Phe3777=) n.273C>T c.11328C>T (p.Phe3776=) c.11253C>T (p.Phe3751=) c.10953C>T (p.Phe3651=) c.8217C>T (p.Phe2739=) c.7110C>T (p.Phe2370=) c.11136C>T (p.Phe3712=) c.6888C>T (p.Phe2296=) c.10116C>T (p.Phe3372=) | |
8 | g.99868330C>A | CA371791864 | VPS13B | c.*426C>A (n.*426C>A) n.11402C>A c.*7014C>A (n.*7014C>A) c.11257C>A (p.Gln3753Lys) c.11332C>A (p.Gln3778Lys) n.274C>A c.11329C>A (p.Gln3777Lys) c.11254C>A (p.Gln3752Lys) c.10954C>A (p.Gln3652Lys) c.8218C>A (p.Gln2740Lys) c.7111C>A (p.Gln2371Lys) c.11137C>A (p.Gln3713Lys) c.6889C>A (p.Gln2297Lys) c.10117C>A (p.Gln3373Lys) | |
8 | g.99868330C>G | CA371791865 | VPS13B | c.*426C>G (n.*426C>G) n.11402C>G c.*7014C>G (n.*7014C>G) c.11257C>G (p.Gln3753Glu) c.11332C>G (p.Gln3778Glu) n.274C>G c.11329C>G (p.Gln3777Glu) c.11254C>G (p.Gln3752Glu) c.10954C>G (p.Gln3652Glu) c.8218C>G (p.Gln2740Glu) c.7111C>G (p.Gln2371Glu) c.11137C>G (p.Gln3713Glu) c.6889C>G (p.Gln2297Glu) c.10117C>G (p.Gln3373Glu) | |
8 | g.99868330C>T | CA371791866 | VPS13B | c.*426C>T (n.*426C>T) n.11402C>T c.*7014C>T (n.*7014C>T) c.11257C>T (p.Gln3753Ter) c.11332C>T (p.Gln3778Ter) n.274C>T c.11329C>T (p.Gln3777Ter) c.11254C>T (p.Gln3752Ter) c.10954C>T (p.Gln3652Ter) c.8218C>T (p.Gln2740Ter) c.7111C>T (p.Gln2371Ter) c.11137C>T (p.Gln3713Ter) c.6889C>T (p.Gln2297Ter) c.10117C>T (p.Gln3373Ter) | |
8 | g.99868331A>C | CA371791868 | VPS13B | c.*427A>C (n.*427A>C) n.11403A>C c.*7015A>C (n.*7015A>C) c.11258A>C (p.Gln3753Pro) c.11333A>C (p.Gln3778Pro) n.275A>C c.11330A>C (p.Gln3777Pro) c.11255A>C (p.Gln3752Pro) c.10955A>C (p.Gln3652Pro) c.8219A>C (p.Gln2740Pro) c.7112A>C (p.Gln2371Pro) c.11138A>C (p.Gln3713Pro) c.6890A>C (p.Gln2297Pro) c.10118A>C (p.Gln3373Pro) | |
8 | g.99868331A>G | CA371791870 | VPS13B | c.*427A>G (n.*427A>G) n.11403A>G c.*7015A>G (n.*7015A>G) c.11258A>G (p.Gln3753Arg) c.11333A>G (p.Gln3778Arg) n.275A>G c.11330A>G (p.Gln3777Arg) c.11255A>G (p.Gln3752Arg) c.10955A>G (p.Gln3652Arg) c.8219A>G (p.Gln2740Arg) c.7112A>G (p.Gln2371Arg) c.11138A>G (p.Gln3713Arg) c.6890A>G (p.Gln2297Arg) c.10118A>G (p.Gln3373Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.99868331A>T | CA371791872 | VPS13B | c.*427A>T (n.*427A>T) n.11403A>T c.*7015A>T (n.*7015A>T) c.11258A>T (p.Gln3753Leu) c.11333A>T (p.Gln3778Leu) n.275A>T c.11330A>T (p.Gln3777Leu) c.11255A>T (p.Gln3752Leu) c.10955A>T (p.Gln3652Leu) c.8219A>T (p.Gln2740Leu) c.7112A>T (p.Gln2371Leu) c.11138A>T (p.Gln3713Leu) c.6890A>T (p.Gln2297Leu) c.10118A>T (p.Gln3373Leu) | |
8 | g.99868332del | CA16618725 | VPS13B | c.*428del (n.*428del) n.11404del c.*7016del (n.*7016del) c.11259del (p.Thr3755HisfsTer?) c.11334del (p.Thr3780HisfsTer?) n.276del c.11331del (p.Thr3779HisfsTer?) c.11256del (p.Thr3754HisfsTer?) c.10956del (p.Thr3654HisfsTer?) c.8220del (p.Thr2742HisfsTer?) c.7113del (p.Thr2373HisfsTer?) c.11139del (p.Thr3715HisfsTer?) c.6891del (p.Thr2299HisfsTer?) c.10119del (p.Thr3375HisfsTer?) | ClinVar dbSNP |
8 | g.99868332G>A | CA462339153 | VPS13B | c.*428G>A (n.*428G>A) n.11404G>A c.*7016G>A (n.*7016G>A) c.11259G>A (p.Gln3753=) c.11334G>A (p.Gln3778=) n.276G>A c.11331G>A (p.Gln3777=) c.11256G>A (p.Gln3752=) c.10956G>A (p.Gln3652=) c.8220G>A (p.Gln2740=) c.7113G>A (p.Gln2371=) c.11139G>A (p.Gln3713=) c.6891G>A (p.Gln2297=) c.10119G>A (p.Gln3373=) | |
8 | g.99868332G>C | CA371791875 | VPS13B | c.*428G>C (n.*428G>C) n.11404G>C c.*7016G>C (n.*7016G>C) c.11259G>C (p.Gln3753His) c.11334G>C (p.Gln3778His) n.276G>C c.11331G>C (p.Gln3777His) c.11256G>C (p.Gln3752His) c.10956G>C (p.Gln3652His) c.8220G>C (p.Gln2740His) c.7113G>C (p.Gln2371His) c.11139G>C (p.Gln3713His) c.6891G>C (p.Gln2297His) c.10119G>C (p.Gln3373His) | |
8 | g.99868332G>T | CA371791874 | VPS13B | c.*428G>T (n.*428G>T) n.11404G>T c.*7016G>T (n.*7016G>T) c.11259G>T (p.Gln3753His) c.11334G>T (p.Gln3778His) n.276G>T c.11331G>T (p.Gln3777His) c.11256G>T (p.Gln3752His) c.10956G>T (p.Gln3652His) c.8220G>T (p.Gln2740His) c.7113G>T (p.Gln2371His) c.11139G>T (p.Gln3713His) c.6891G>T (p.Gln2297His) c.10119G>T (p.Gln3373His) | |
8 | g.99868333A>C | CA371791878 | VPS13B | c.*429A>C (n.*429A>C) n.11405A>C c.*7017A>C (n.*7017A>C) c.11260A>C (p.Lys3754Gln) c.11335A>C (p.Lys3779Gln) n.277A>C c.11332A>C (p.Lys3778Gln) c.11257A>C (p.Lys3753Gln) c.10957A>C (p.Lys3653Gln) c.8221A>C (p.Lys2741Gln) c.7114A>C (p.Lys2372Gln) c.11140A>C (p.Lys3714Gln) c.6892A>C (p.Lys2298Gln) c.10120A>C (p.Lys3374Gln) | |
8 | g.99868333A>G | CA371791880 | VPS13B | c.*429A>G (n.*429A>G) n.11405A>G c.*7017A>G (n.*7017A>G) c.11260A>G (p.Lys3754Glu) c.11335A>G (p.Lys3779Glu) n.277A>G c.11332A>G (p.Lys3778Glu) c.11257A>G (p.Lys3753Glu) c.10957A>G (p.Lys3653Glu) c.8221A>G (p.Lys2741Glu) c.7114A>G (p.Lys2372Glu) c.11140A>G (p.Lys3714Glu) c.6892A>G (p.Lys2298Glu) c.10120A>G (p.Lys3374Glu) | |
8 | g.99868333A>T | CA371791881 | VPS13B | c.*429A>T (n.*429A>T) n.11405A>T c.*7017A>T (n.*7017A>T) c.11260A>T (p.Lys3754Ter) c.11335A>T (p.Lys3779Ter) n.277A>T c.11332A>T (p.Lys3778Ter) c.11257A>T (p.Lys3753Ter) c.10957A>T (p.Lys3653Ter) c.8221A>T (p.Lys2741Ter) c.7114A>T (p.Lys2372Ter) c.11140A>T (p.Lys3714Ter) c.6892A>T (p.Lys2298Ter) c.10120A>T (p.Lys3374Ter) | |
8 | g.99868336del | CA16041275 | VPS13B | c.*432del (n.*432del) n.11408del c.*7020del (n.*7020del) c.11263del (p.Thr3755HisfsTer?) c.11338del (p.Thr3780HisfsTer?) n.280del c.11335del (p.Thr3779HisfsTer?) c.11260del (p.Thr3754HisfsTer?) c.10960del (p.Thr3654HisfsTer?) c.8224del (p.Thr2742HisfsTer?) c.7117del (p.Thr2373HisfsTer?) c.11143del (p.Thr3715HisfsTer?) c.6895del (p.Thr2299HisfsTer?) c.10123del (p.Thr3375HisfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868334A>C | CA371791885 | VPS13B | c.*430A>C (n.*430A>C) n.11406A>C c.*7018A>C (n.*7018A>C) c.11261A>C (p.Lys3754Thr) c.11336A>C (p.Lys3779Thr) n.278A>C c.11333A>C (p.Lys3778Thr) c.11258A>C (p.Lys3753Thr) c.10958A>C (p.Lys3653Thr) c.8222A>C (p.Lys2741Thr) c.7115A>C (p.Lys2372Thr) c.11141A>C (p.Lys3714Thr) c.6893A>C (p.Lys2298Thr) c.10121A>C (p.Lys3374Thr) | |
8 | g.99868334A>G | CA371791886 | VPS13B | c.*430A>G (n.*430A>G) n.11406A>G c.*7018A>G (n.*7018A>G) c.11261A>G (p.Lys3754Arg) c.11336A>G (p.Lys3779Arg) n.278A>G c.11333A>G (p.Lys3778Arg) c.11258A>G (p.Lys3753Arg) c.10958A>G (p.Lys3653Arg) c.8222A>G (p.Lys2741Arg) c.7115A>G (p.Lys2372Arg) c.11141A>G (p.Lys3714Arg) c.6893A>G (p.Lys2298Arg) c.10121A>G (p.Lys3374Arg) | |
8 | g.99868334A>T | CA371791888 | VPS13B | c.*430A>T (n.*430A>T) n.11406A>T c.*7018A>T (n.*7018A>T) c.11261A>T (p.Lys3754Ile) c.11336A>T (p.Lys3779Ile) n.278A>T c.11333A>T (p.Lys3778Ile) c.11258A>T (p.Lys3753Ile) c.10958A>T (p.Lys3653Ile) c.8222A>T (p.Lys2741Ile) c.7115A>T (p.Lys2372Ile) c.11141A>T (p.Lys3714Ile) c.6893A>T (p.Lys2298Ile) c.10121A>T (p.Lys3374Ile) | |
8 | g.99868335A>C | CA371791890 | VPS13B | c.*431A>C (n.*431A>C) n.11407A>C c.*7019A>C (n.*7019A>C) c.11262A>C (p.Lys3754Asn) c.11337A>C (p.Lys3779Asn) n.279A>C c.11334A>C (p.Lys3778Asn) c.11259A>C (p.Lys3753Asn) c.10959A>C (p.Lys3653Asn) c.8223A>C (p.Lys2741Asn) c.7116A>C (p.Lys2372Asn) c.11142A>C (p.Lys3714Asn) c.6894A>C (p.Lys2298Asn) c.10122A>C (p.Lys3374Asn) | |
8 | g.99868335A>G | CA462339165 | VPS13B | c.*431A>G (n.*431A>G) n.11407A>G c.*7019A>G (n.*7019A>G) c.11262A>G (p.Lys3754=) c.11337A>G (p.Lys3779=) n.279A>G c.11334A>G (p.Lys3778=) c.11259A>G (p.Lys3753=) c.10959A>G (p.Lys3653=) c.8223A>G (p.Lys2741=) c.7116A>G (p.Lys2372=) c.11142A>G (p.Lys3714=) c.6894A>G (p.Lys2298=) c.10122A>G (p.Lys3374=) | |
8 | g.99868335A>T | CA371791891 | VPS13B | c.*431A>T (n.*431A>T) n.11407A>T c.*7019A>T (n.*7019A>T) c.11262A>T (p.Lys3754Asn) c.11337A>T (p.Lys3779Asn) n.279A>T c.11334A>T (p.Lys3778Asn) c.11259A>T (p.Lys3753Asn) c.10959A>T (p.Lys3653Asn) c.8223A>T (p.Lys2741Asn) c.7116A>T (p.Lys2372Asn) c.11142A>T (p.Lys3714Asn) c.6894A>T (p.Lys2298Asn) c.10122A>T (p.Lys3374Asn) | |
8 | g.99868336A>C | CA371791894 | VPS13B | c.*432A>C (n.*432A>C) n.11408A>C c.*7020A>C (n.*7020A>C) c.11263A>C (p.Thr3755Pro) c.11338A>C (p.Thr3780Pro) n.280A>C c.11335A>C (p.Thr3779Pro) c.11260A>C (p.Thr3754Pro) c.10960A>C (p.Thr3654Pro) c.8224A>C (p.Thr2742Pro) c.7117A>C (p.Thr2373Pro) c.11143A>C (p.Thr3715Pro) c.6895A>C (p.Thr2299Pro) c.10123A>C (p.Thr3375Pro) | |
8 | g.99868336A>G | CA371791896 | VPS13B | c.*432A>G (n.*432A>G) n.11408A>G c.*7020A>G (n.*7020A>G) c.11263A>G (p.Thr3755Ala) c.11338A>G (p.Thr3780Ala) n.280A>G c.11335A>G (p.Thr3779Ala) c.11260A>G (p.Thr3754Ala) c.10960A>G (p.Thr3654Ala) c.8224A>G (p.Thr2742Ala) c.7117A>G (p.Thr2373Ala) c.11143A>G (p.Thr3715Ala) c.6895A>G (p.Thr2299Ala) c.10123A>G (p.Thr3375Ala) | |
8 | g.99868336A>T | CA371791897 | VPS13B | c.*432A>T (n.*432A>T) n.11408A>T c.*7020A>T (n.*7020A>T) c.11263A>T (p.Thr3755Ser) c.11338A>T (p.Thr3780Ser) n.280A>T c.11335A>T (p.Thr3779Ser) c.11260A>T (p.Thr3754Ser) c.10960A>T (p.Thr3654Ser) c.8224A>T (p.Thr2742Ser) c.7117A>T (p.Thr2373Ser) c.11143A>T (p.Thr3715Ser) c.6895A>T (p.Thr2299Ser) c.10123A>T (p.Thr3375Ser) | |
8 | g.99868337C>A | CA371791899 | VPS13B | c.*433C>A (n.*433C>A) n.11409C>A c.*7021C>A (n.*7021C>A) c.11264C>A (p.Thr3755Lys) c.11339C>A (p.Thr3780Lys) n.281C>A c.11336C>A (p.Thr3779Lys) c.11261C>A (p.Thr3754Lys) c.10961C>A (p.Thr3654Lys) c.8225C>A (p.Thr2742Lys) c.7118C>A (p.Thr2373Lys) c.11144C>A (p.Thr3715Lys) c.6896C>A (p.Thr2299Lys) c.10124C>A (p.Thr3375Lys) | |
8 | g.99868337C>G | CA371791901 | VPS13B | c.*433C>G (n.*433C>G) n.11409C>G c.*7021C>G (n.*7021C>G) c.11264C>G (p.Thr3755Arg) c.11339C>G (p.Thr3780Arg) n.281C>G c.11336C>G (p.Thr3779Arg) c.11261C>G (p.Thr3754Arg) c.10961C>G (p.Thr3654Arg) c.8225C>G (p.Thr2742Arg) c.7118C>G (p.Thr2373Arg) c.11144C>G (p.Thr3715Arg) c.6896C>G (p.Thr2299Arg) c.10124C>G (p.Thr3375Arg) | |
8 | g.99868337C>T | CA371791902 | VPS13B | c.*433C>T (n.*433C>T) n.11409C>T c.*7021C>T (n.*7021C>T) c.11264C>T (p.Thr3755Ile) c.11339C>T (p.Thr3780Ile) n.281C>T c.11336C>T (p.Thr3779Ile) c.11261C>T (p.Thr3754Ile) c.10961C>T (p.Thr3654Ile) c.8225C>T (p.Thr2742Ile) c.7118C>T (p.Thr2373Ile) c.11144C>T (p.Thr3715Ile) c.6896C>T (p.Thr2299Ile) c.10124C>T (p.Thr3375Ile) | ClinVar |
8 | g.99868338A>C | CA462339181 | VPS13B | c.*434A>C (n.*434A>C) n.11410A>C c.*7022A>C (n.*7022A>C) c.11265A>C (p.Thr3755=) c.11340A>C (p.Thr3780=) n.282A>C c.11337A>C (p.Thr3779=) c.11262A>C (p.Thr3754=) c.10962A>C (p.Thr3654=) c.8226A>C (p.Thr2742=) c.7119A>C (p.Thr2373=) c.11145A>C (p.Thr3715=) c.6897A>C (p.Thr2299=) c.10125A>C (p.Thr3375=) | |
8 | g.99868338A>G | CA462339182 | VPS13B | c.*434A>G (n.*434A>G) n.11410A>G c.*7022A>G (n.*7022A>G) c.11265A>G (p.Thr3755=) c.11340A>G (p.Thr3780=) n.282A>G c.11337A>G (p.Thr3779=) c.11262A>G (p.Thr3754=) c.10962A>G (p.Thr3654=) c.8226A>G (p.Thr2742=) c.7119A>G (p.Thr2373=) c.11145A>G (p.Thr3715=) c.6897A>G (p.Thr2299=) c.10125A>G (p.Thr3375=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99868338A>T | CA462339183 | VPS13B | c.*434A>T (n.*434A>T) n.11410A>T c.*7022A>T (n.*7022A>T) c.11265A>T (p.Thr3755=) c.11340A>T (p.Thr3780=) n.282A>T c.11337A>T (p.Thr3779=) c.11262A>T (p.Thr3754=) c.10962A>T (p.Thr3654=) c.8226A>T (p.Thr2742=) c.7119A>T (p.Thr2373=) c.11145A>T (p.Thr3715=) c.6897A>T (p.Thr2299=) c.10125A>T (p.Thr3375=) | |
8 | g.99868339T>A | CA371791903 | VPS13B | c.*435T>A (n.*435T>A) n.11411T>A c.*7023T>A (n.*7023T>A) c.11266T>A (p.Ser3756Thr) c.11341T>A (p.Ser3781Thr) n.283T>A c.11338T>A (p.Ser3780Thr) c.11263T>A (p.Ser3755Thr) c.10963T>A (p.Ser3655Thr) c.8227T>A (p.Ser2743Thr) c.7120T>A (p.Ser2374Thr) c.11146T>A (p.Ser3716Thr) c.6898T>A (p.Ser2300Thr) c.10126T>A (p.Ser3376Thr) | |
8 | g.99868339T>C | CA4825195 | VPS13B | c.*435T>C (n.*435T>C) n.11411T>C c.*7023T>C (n.*7023T>C) c.11266T>C (p.Ser3756Pro) c.11341T>C (p.Ser3781Pro) n.283T>C c.11338T>C (p.Ser3780Pro) c.11263T>C (p.Ser3755Pro) c.10963T>C (p.Ser3655Pro) c.8227T>C (p.Ser2743Pro) c.7120T>C (p.Ser2374Pro) c.11146T>C (p.Ser3716Pro) c.6898T>C (p.Ser2300Pro) c.10126T>C (p.Ser3376Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99868339T>G | CA4825196 | VPS13B | c.*435T>G (n.*435T>G) n.11411T>G c.*7023T>G (n.*7023T>G) c.11266T>G (p.Ser3756Ala) c.11341T>G (p.Ser3781Ala) n.283T>G c.11338T>G (p.Ser3780Ala) c.11263T>G (p.Ser3755Ala) c.10963T>G (p.Ser3655Ala) c.8227T>G (p.Ser2743Ala) c.7120T>G (p.Ser2374Ala) c.11146T>G (p.Ser3716Ala) c.6898T>G (p.Ser2300Ala) c.10126T>G (p.Ser3376Ala) | dbSNP ExAC gnomAD v4 |
8 | g.99868340C>A | CA371791908 | VPS13B | c.*436C>A (n.*436C>A) n.11412C>A c.*7024C>A (n.*7024C>A) c.11267C>A (p.Ser3756Tyr) c.11342C>A (p.Ser3781Tyr) n.284C>A c.11339C>A (p.Ser3780Tyr) c.11264C>A (p.Ser3755Tyr) c.10964C>A (p.Ser3655Tyr) c.8228C>A (p.Ser2743Tyr) c.7121C>A (p.Ser2374Tyr) c.11147C>A (p.Ser3716Tyr) c.6899C>A (p.Ser2300Tyr) c.10127C>A (p.Ser3376Tyr) | |
8 | g.99868340C>G | CA371791910 | VPS13B | c.*436C>G (n.*436C>G) n.11412C>G c.*7024C>G (n.*7024C>G) c.11267C>G (p.Ser3756Cys) c.11342C>G (p.Ser3781Cys) n.284C>G c.11339C>G (p.Ser3780Cys) c.11264C>G (p.Ser3755Cys) c.10964C>G (p.Ser3655Cys) c.8228C>G (p.Ser2743Cys) c.7121C>G (p.Ser2374Cys) c.11147C>G (p.Ser3716Cys) c.6899C>G (p.Ser2300Cys) c.10127C>G (p.Ser3376Cys) | gnomAD v4 |
8 | g.99868340C>T | CA371791911 | VPS13B | c.*436C>T (n.*436C>T) n.11412C>T c.*7024C>T (n.*7024C>T) c.11267C>T (p.Ser3756Phe) c.11342C>T (p.Ser3781Phe) n.284C>T c.11339C>T (p.Ser3780Phe) c.11264C>T (p.Ser3755Phe) c.10964C>T (p.Ser3655Phe) c.8228C>T (p.Ser2743Phe) c.7121C>T (p.Ser2374Phe) c.11147C>T (p.Ser3716Phe) c.6899C>T (p.Ser2300Phe) c.10127C>T (p.Ser3376Phe) | |
8 | g.99868341T>A | CA462339190 | VPS13B | c.*437T>A (n.*437T>A) n.11413T>A c.*7025T>A (n.*7025T>A) c.11268T>A (p.Ser3756=) c.11343T>A (p.Ser3781=) n.285T>A c.11340T>A (p.Ser3780=) c.11265T>A (p.Ser3755=) c.10965T>A (p.Ser3655=) c.8229T>A (p.Ser2743=) c.7122T>A (p.Ser2374=) c.11148T>A (p.Ser3716=) c.6900T>A (p.Ser2300=) c.10128T>A (p.Ser3376=) | |
8 | g.99868341T>C | CA462339191 | VPS13B | c.*437T>C (n.*437T>C) n.11413T>C c.*7025T>C (n.*7025T>C) c.11268T>C (p.Ser3756=) c.11343T>C (p.Ser3781=) n.285T>C c.11340T>C (p.Ser3780=) c.11265T>C (p.Ser3755=) c.10965T>C (p.Ser3655=) c.8229T>C (p.Ser2743=) c.7122T>C (p.Ser2374=) c.11148T>C (p.Ser3716=) c.6900T>C (p.Ser2300=) c.10128T>C (p.Ser3376=) | dbSNP gnomAD v4 |
8 | g.99868341T>G | CA462339188 | VPS13B | c.*437T>G (n.*437T>G) n.11413T>G c.*7025T>G (n.*7025T>G) c.11268T>G (p.Ser3756=) c.11343T>G (p.Ser3781=) n.285T>G c.11340T>G (p.Ser3780=) c.11265T>G (p.Ser3755=) c.10965T>G (p.Ser3655=) c.8229T>G (p.Ser2743=) c.7122T>G (p.Ser2374=) c.11148T>G (p.Ser3716=) c.6900T>G (p.Ser2300=) c.10128T>G (p.Ser3376=) | |
8 | g.99868342G>A | CA371791916 | VPS13B | c.*438G>A (n.*438G>A) n.11414G>A c.*7026G>A (n.*7026G>A) c.11269G>A (p.Glu3757Lys) c.11344G>A (p.Glu3782Lys) n.286G>A c.11341G>A (p.Glu3781Lys) c.11266G>A (p.Glu3756Lys) c.10966G>A (p.Glu3656Lys) c.8230G>A (p.Glu2744Lys) c.7123G>A (p.Glu2375Lys) c.11149G>A (p.Glu3717Lys) c.6901G>A (p.Glu2301Lys) c.10129G>A (p.Glu3377Lys) | |
8 | g.99868342G>C | CA371791918 | VPS13B | c.*438G>C (n.*438G>C) n.11414G>C c.*7026G>C (n.*7026G>C) c.11269G>C (p.Glu3757Gln) c.11344G>C (p.Glu3782Gln) n.286G>C c.11341G>C (p.Glu3781Gln) c.11266G>C (p.Glu3756Gln) c.10966G>C (p.Glu3656Gln) c.8230G>C (p.Glu2744Gln) c.7123G>C (p.Glu2375Gln) c.11149G>C (p.Glu3717Gln) c.6901G>C (p.Glu2301Gln) c.10129G>C (p.Glu3377Gln) | |
8 | g.99868342G>T | CA371791914 | VPS13B | c.*438G>T (n.*438G>T) n.11414G>T c.*7026G>T (n.*7026G>T) c.11269G>T (p.Glu3757Ter) c.11344G>T (p.Glu3782Ter) n.286G>T c.11341G>T (p.Glu3781Ter) c.11266G>T (p.Glu3756Ter) c.10966G>T (p.Glu3656Ter) c.8230G>T (p.Glu2744Ter) c.7123G>T (p.Glu2375Ter) c.11149G>T (p.Glu3717Ter) c.6901G>T (p.Glu2301Ter) c.10129G>T (p.Glu3377Ter) | |
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) |