| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99861906G>A | CA462338419 | VPS13B | c.*344G>A (n.*344G>A) n.11320G>A c.*6932G>A (n.*6932G>A) c.11175G>A (p.Gly3725=) c.11250G>A (p.Gly3750=) c.11247G>A (p.Gly3749=) c.11172G>A (p.Gly3724=) c.10872G>A (p.Gly3624=) c.8136G>A (p.Gly2712=) c.7029G>A (p.Gly2343=) c.11055G>A (p.Gly3685=) c.6807G>A (p.Gly2269=) c.10035G>A (p.Gly3345=) | ClinVar dbSNP gnomAD v2 |
| 8 | g.99861906G>C | CA462338417 | VPS13B | c.*344G>C (n.*344G>C) n.11320G>C c.*6932G>C (n.*6932G>C) c.11175G>C (p.Gly3725=) c.11250G>C (p.Gly3750=) c.11247G>C (p.Gly3749=) c.11172G>C (p.Gly3724=) c.10872G>C (p.Gly3624=) c.8136G>C (p.Gly2712=) c.7029G>C (p.Gly2343=) c.11055G>C (p.Gly3685=) c.6807G>C (p.Gly2269=) c.10035G>C (p.Gly3345=) | |
| 8 | g.99861906G>T | CA4825159 | VPS13B | c.*344G>T (n.*344G>T) n.11320G>T c.*6932G>T (n.*6932G>T) c.11175G>T (p.Gly3725=) c.11250G>T (p.Gly3750=) c.11247G>T (p.Gly3749=) c.11172G>T (p.Gly3724=) c.10872G>T (p.Gly3624=) c.8136G>T (p.Gly2712=) c.7029G>T (p.Gly2343=) c.11055G>T (p.Gly3685=) c.6807G>T (p.Gly2269=) c.10035G>T (p.Gly3345=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99861907C>A | CA371790689 | VPS13B | c.*345C>A (n.*345C>A) n.11321C>A c.*6933C>A (n.*6933C>A) c.11176C>A (p.Leu3726Ile) c.11251C>A (p.Leu3751Ile) c.11248C>A (p.Leu3750Ile) c.11173C>A (p.Leu3725Ile) c.10873C>A (p.Leu3625Ile) c.8137C>A (p.Leu2713Ile) c.7030C>A (p.Leu2344Ile) c.11056C>A (p.Leu3686Ile) c.6808C>A (p.Leu2270Ile) c.10036C>A (p.Leu3346Ile) | dbSNP gnomAD v2 |
| 8 | g.99861907C>G | CA371790690 | VPS13B | c.*345C>G (n.*345C>G) n.11321C>G c.*6933C>G (n.*6933C>G) c.11176C>G (p.Leu3726Val) c.11251C>G (p.Leu3751Val) c.11248C>G (p.Leu3750Val) c.11173C>G (p.Leu3725Val) c.10873C>G (p.Leu3625Val) c.8137C>G (p.Leu2713Val) c.7030C>G (p.Leu2344Val) c.11056C>G (p.Leu3686Val) c.6808C>G (p.Leu2270Val) c.10036C>G (p.Leu3346Val) | |
| 8 | g.99861907C>T | CA4825160 | VPS13B | c.*345C>T (n.*345C>T) n.11321C>T c.*6933C>T (n.*6933C>T) c.11176C>T (p.Leu3726Phe) c.11251C>T (p.Leu3751Phe) c.11248C>T (p.Leu3750Phe) c.11173C>T (p.Leu3725Phe) c.10873C>T (p.Leu3625Phe) c.8137C>T (p.Leu2713Phe) c.7030C>T (p.Leu2344Phe) c.11056C>T (p.Leu3686Phe) c.6808C>T (p.Leu2270Phe) c.10036C>T (p.Leu3346Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861908T>A | CA371790691 | VPS13B | c.*346T>A (n.*346T>A) n.11322T>A c.*6934T>A (n.*6934T>A) c.11177T>A (p.Leu3726His) c.11252T>A (p.Leu3751His) c.11249T>A (p.Leu3750His) c.11174T>A (p.Leu3725His) c.10874T>A (p.Leu3625His) c.8138T>A (p.Leu2713His) c.7031T>A (p.Leu2344His) c.11057T>A (p.Leu3686His) c.6809T>A (p.Leu2270His) c.10037T>A (p.Leu3346His) | |
| 8 | g.99861908T>C | CA371790692 | VPS13B | c.*346T>C (n.*346T>C) n.11322T>C c.*6934T>C (n.*6934T>C) c.11177T>C (p.Leu3726Pro) c.11252T>C (p.Leu3751Pro) c.11249T>C (p.Leu3750Pro) c.11174T>C (p.Leu3725Pro) c.10874T>C (p.Leu3625Pro) c.8138T>C (p.Leu2713Pro) c.7031T>C (p.Leu2344Pro) c.11057T>C (p.Leu3686Pro) c.6809T>C (p.Leu2270Pro) c.10037T>C (p.Leu3346Pro) | |
| 8 | g.99861908T>G | CA371790693 | VPS13B | c.*346T>G (n.*346T>G) n.11322T>G c.*6934T>G (n.*6934T>G) c.11177T>G (p.Leu3726Arg) c.11252T>G (p.Leu3751Arg) c.11249T>G (p.Leu3750Arg) c.11174T>G (p.Leu3725Arg) c.10874T>G (p.Leu3625Arg) c.8138T>G (p.Leu2713Arg) c.7031T>G (p.Leu2344Arg) c.11057T>G (p.Leu3686Arg) c.6809T>G (p.Leu2270Arg) c.10037T>G (p.Leu3346Arg) | |
| 8 | g.99861909T>A | CA462338434 | VPS13B | c.*347T>A (n.*347T>A) n.11323T>A c.*6935T>A (n.*6935T>A) c.11178T>A (p.Leu3726=) c.11253T>A (p.Leu3751=) c.11250T>A (p.Leu3750=) c.11175T>A (p.Leu3725=) c.10875T>A (p.Leu3625=) c.8139T>A (p.Leu2713=) c.7032T>A (p.Leu2344=) c.11058T>A (p.Leu3686=) c.6810T>A (p.Leu2270=) c.10038T>A (p.Leu3346=) | |
| 8 | g.99861909T>C | CA462338436 | VPS13B | c.*347T>C (n.*347T>C) n.11323T>C c.*6935T>C (n.*6935T>C) c.11178T>C (p.Leu3726=) c.11253T>C (p.Leu3751=) c.11250T>C (p.Leu3750=) c.11175T>C (p.Leu3725=) c.10875T>C (p.Leu3625=) c.8139T>C (p.Leu2713=) c.7032T>C (p.Leu2344=) c.11058T>C (p.Leu3686=) c.6810T>C (p.Leu2270=) c.10038T>C (p.Leu3346=) | |
| 8 | g.99861909T>G | CA462338438 | VPS13B | c.*347T>G (n.*347T>G) n.11323T>G c.*6935T>G (n.*6935T>G) c.11178T>G (p.Leu3726=) c.11253T>G (p.Leu3751=) c.11250T>G (p.Leu3750=) c.11175T>G (p.Leu3725=) c.10875T>G (p.Leu3625=) c.8139T>G (p.Leu2713=) c.7032T>G (p.Leu2344=) c.11058T>G (p.Leu3686=) c.6810T>G (p.Leu2270=) c.10038T>G (p.Leu3346=) | |
| 8 | g.99861910C>A | CA462338441 | VPS13B | c.*348C>A (n.*348C>A) n.11324C>A c.*6936C>A (n.*6936C>A) c.11179C>A (p.Arg3727=) c.11254C>A (p.Arg3752=) c.11251C>A (p.Arg3751=) c.11176C>A (p.Arg3726=) c.10876C>A (p.Arg3626=) c.8140C>A (p.Arg2714=) c.7033C>A (p.Arg2345=) c.11059C>A (p.Arg3687=) c.6811C>A (p.Arg2271=) c.10039C>A (p.Arg3347=) | gnomAD v4 |
| 8 | g.99861910C>G | CA371790694 | VPS13B | c.*348C>G (n.*348C>G) n.11324C>G c.*6936C>G (n.*6936C>G) c.11179C>G (p.Arg3727Gly) c.11254C>G (p.Arg3752Gly) c.11251C>G (p.Arg3751Gly) c.11176C>G (p.Arg3726Gly) c.10876C>G (p.Arg3626Gly) c.8140C>G (p.Arg2714Gly) c.7033C>G (p.Arg2345Gly) c.11059C>G (p.Arg3687Gly) c.6811C>G (p.Arg2271Gly) c.10039C>G (p.Arg3347Gly) | |
| 8 | g.99861910C>T | CA371790695 | VPS13B | c.*348C>T (n.*348C>T) n.11324C>T c.*6936C>T (n.*6936C>T) c.11179C>T (p.Arg3727Ter) c.11254C>T (p.Arg3752Ter) c.11251C>T (p.Arg3751Ter) c.11176C>T (p.Arg3726Ter) c.10876C>T (p.Arg3626Ter) c.8140C>T (p.Arg2714Ter) c.7033C>T (p.Arg2345Ter) c.11059C>T (p.Arg3687Ter) c.6811C>T (p.Arg2271Ter) c.10039C>T (p.Arg3347Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861911G>A | CA182321626 | VPS13B | c.*349G>A (n.*349G>A) n.11325G>A c.*6937G>A (n.*6937G>A) c.11180G>A (p.Arg3727Gln) c.11255G>A (p.Arg3752Gln) c.11252G>A (p.Arg3751Gln) c.11177G>A (p.Arg3726Gln) c.10877G>A (p.Arg3626Gln) c.8141G>A (p.Arg2714Gln) c.7034G>A (p.Arg2345Gln) c.11060G>A (p.Arg3687Gln) c.6812G>A (p.Arg2271Gln) c.10040G>A (p.Arg3347Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.99861911G>C | CA371790696 | VPS13B | c.*349G>C (n.*349G>C) n.11325G>C c.*6937G>C (n.*6937G>C) c.11180G>C (p.Arg3727Pro) c.11255G>C (p.Arg3752Pro) c.11252G>C (p.Arg3751Pro) c.11177G>C (p.Arg3726Pro) c.10877G>C (p.Arg3626Pro) c.8141G>C (p.Arg2714Pro) c.7034G>C (p.Arg2345Pro) c.11060G>C (p.Arg3687Pro) c.6812G>C (p.Arg2271Pro) c.10040G>C (p.Arg3347Pro) | |
| 8 | g.99861911G>T | CA371790697 | VPS13B | c.*349G>T (n.*349G>T) n.11325G>T c.*6937G>T (n.*6937G>T) c.11180G>T (p.Arg3727Leu) c.11255G>T (p.Arg3752Leu) c.11252G>T (p.Arg3751Leu) c.11177G>T (p.Arg3726Leu) c.10877G>T (p.Arg3626Leu) c.8141G>T (p.Arg2714Leu) c.7034G>T (p.Arg2345Leu) c.11060G>T (p.Arg3687Leu) c.6812G>T (p.Arg2271Leu) c.10040G>T (p.Arg3347Leu) | gnomAD v4 |
| 8 | g.99861912_99861916del | CA2688072163 | VPS13B | c.*350_*354del (n.*350_*354del) n.11326_11330del c.*6938_*6942del (n.*6938_*6942del) c.11181_11185del (p.Gln3728ProfsTer17) c.11256_11260del (p.Gln3753ProfsTer17) c.11253_11257del (p.Gln3752ProfsTer17) c.11178_11182del (p.Gln3727ProfsTer17) c.10878_10882del (p.Gln3627ProfsTer17) c.8142_8146del (p.Gln2715ProfsTer17) c.7035_7039del (p.Gln2346ProfsTer17) c.11061_11065del (p.Gln3688ProfsTer17) c.6813_6817del (p.Gln2272ProfsTer17) c.10041_10045del (p.Gln3348ProfsTer17) | gnomAD v4 |
| 8 | g.99861912A= | CA2580832419 | VPS13B | c.*350A= (n.*350A=) n.11326A= c.*6938A= (n.*6938A=) c.11181A= (p.Arg3727=) c.11256A= (p.Arg3752=) c.11253A= (p.Arg3751=) c.11178A= (p.Arg3726=) c.10878A= (p.Arg3626=) c.8142A= (p.Arg2714=) c.7035A= (p.Arg2345=) c.11061A= (p.Arg3687=) c.6813A= (p.Arg2271=) c.10041A= (p.Arg3347=) | |
| 8 | g.99861912A>C | CA462338455 | VPS13B | c.*350A>C (n.*350A>C) n.11326A>C c.*6938A>C (n.*6938A>C) c.11181A>C (p.Arg3727=) c.11256A>C (p.Arg3752=) c.11253A>C (p.Arg3751=) c.11178A>C (p.Arg3726=) c.10878A>C (p.Arg3626=) c.8142A>C (p.Arg2714=) c.7035A>C (p.Arg2345=) c.11061A>C (p.Arg3687=) c.6813A>C (p.Arg2271=) c.10041A>C (p.Arg3347=) | |
| 8 | g.99861912A>G | CA4825161 | VPS13B | c.*350A>G (n.*350A>G) n.11326A>G c.*6938A>G (n.*6938A>G) c.11181A>G (p.Arg3727=) c.11256A>G (p.Arg3752=) c.11253A>G (p.Arg3751=) c.11178A>G (p.Arg3726=) c.10878A>G (p.Arg3626=) c.8142A>G (p.Arg2714=) c.7035A>G (p.Arg2345=) c.11061A>G (p.Arg3687=) c.6813A>G (p.Arg2271=) c.10041A>G (p.Arg3347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861912A>T | CA462338458 | VPS13B | c.*350A>T (n.*350A>T) n.11326A>T c.*6938A>T (n.*6938A>T) c.11181A>T (p.Arg3727=) c.11256A>T (p.Arg3752=) c.11253A>T (p.Arg3751=) c.11178A>T (p.Arg3726=) c.10878A>T (p.Arg3626=) c.8142A>T (p.Arg2714=) c.7035A>T (p.Arg2345=) c.11061A>T (p.Arg3687=) c.6813A>T (p.Arg2271=) c.10041A>T (p.Arg3347=) | |
| 8 | g.99861912_99861956del | CA857605273 | VPS13B | c.*350_*384+10del n.11326_11360+10del c.*6938_*6972+10del c.11181_11215+10del c.11256_11290+10del c.11253_11287+10del c.11178_11212+10del c.10878_10912+10del c.8142_8176+10del c.7035_7069+10del c.11061_11095+10del c.6813_6847+10del c.10041_10075+10del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99861913C>A | CA371790698 | VPS13B | c.*351C>A (n.*351C>A) n.11327C>A c.*6939C>A (n.*6939C>A) c.11182C>A (p.Gln3728Lys) c.11257C>A (p.Gln3753Lys) c.11254C>A (p.Gln3752Lys) c.11179C>A (p.Gln3727Lys) c.10879C>A (p.Gln3627Lys) c.8143C>A (p.Gln2715Lys) c.7036C>A (p.Gln2346Lys) c.11062C>A (p.Gln3688Lys) c.6814C>A (p.Gln2272Lys) c.10042C>A (p.Gln3348Lys) | |
| 8 | g.99861913C>G | CA371790700 | VPS13B | c.*351C>G (n.*351C>G) n.11327C>G c.*6939C>G (n.*6939C>G) c.11182C>G (p.Gln3728Glu) c.11257C>G (p.Gln3753Glu) c.11254C>G (p.Gln3752Glu) c.11179C>G (p.Gln3727Glu) c.10879C>G (p.Gln3627Glu) c.8143C>G (p.Gln2715Glu) c.7036C>G (p.Gln2346Glu) c.11062C>G (p.Gln3688Glu) c.6814C>G (p.Gln2272Glu) c.10042C>G (p.Gln3348Glu) | |
| 8 | g.99861913C>T | CA371790699 | VPS13B | c.*351C>T (n.*351C>T) n.11327C>T c.*6939C>T (n.*6939C>T) c.11182C>T (p.Gln3728Ter) c.11257C>T (p.Gln3753Ter) c.11254C>T (p.Gln3752Ter) c.11179C>T (p.Gln3727Ter) c.10879C>T (p.Gln3627Ter) c.8143C>T (p.Gln2715Ter) c.7036C>T (p.Gln2346Ter) c.11062C>T (p.Gln3688Ter) c.6814C>T (p.Gln2272Ter) c.10042C>T (p.Gln3348Ter) | |
| 8 | g.99861914A>C | CA371790701 | VPS13B | c.*352A>C (n.*352A>C) n.11328A>C c.*6940A>C (n.*6940A>C) c.11183A>C (p.Gln3728Pro) c.11258A>C (p.Gln3753Pro) c.11255A>C (p.Gln3752Pro) c.11180A>C (p.Gln3727Pro) c.10880A>C (p.Gln3627Pro) c.8144A>C (p.Gln2715Pro) c.7037A>C (p.Gln2346Pro) c.11063A>C (p.Gln3688Pro) c.6815A>C (p.Gln2272Pro) c.10043A>C (p.Gln3348Pro) | |
| 8 | g.99861914A>G | CA371790702 | VPS13B | c.*352A>G (n.*352A>G) n.11328A>G c.*6940A>G (n.*6940A>G) c.11183A>G (p.Gln3728Arg) c.11258A>G (p.Gln3753Arg) c.11255A>G (p.Gln3752Arg) c.11180A>G (p.Gln3727Arg) c.10880A>G (p.Gln3627Arg) c.8144A>G (p.Gln2715Arg) c.7037A>G (p.Gln2346Arg) c.11063A>G (p.Gln3688Arg) c.6815A>G (p.Gln2272Arg) c.10043A>G (p.Gln3348Arg) | |
| 8 | g.99861914A>T | CA371790703 | VPS13B | c.*352A>T (n.*352A>T) n.11328A>T c.*6940A>T (n.*6940A>T) c.11183A>T (p.Gln3728Leu) c.11258A>T (p.Gln3753Leu) c.11255A>T (p.Gln3752Leu) c.11180A>T (p.Gln3727Leu) c.10880A>T (p.Gln3627Leu) c.8144A>T (p.Gln2715Leu) c.7037A>T (p.Gln2346Leu) c.11063A>T (p.Gln3688Leu) c.6815A>T (p.Gln2272Leu) c.10043A>T (p.Gln3348Leu) | |
| 8 | g.99861915G>A | CA462338472 | VPS13B | c.*353G>A (n.*353G>A) n.11329G>A c.*6941G>A (n.*6941G>A) c.11184G>A (p.Gln3728=) c.11259G>A (p.Gln3753=) c.11256G>A (p.Gln3752=) c.11181G>A (p.Gln3727=) c.10881G>A (p.Gln3627=) c.8145G>A (p.Gln2715=) c.7038G>A (p.Gln2346=) c.11064G>A (p.Gln3688=) c.6816G>A (p.Gln2272=) c.10044G>A (p.Gln3348=) | dbSNP |
| 8 | g.99861915G>C | CA371790704 | VPS13B | c.*353G>C (n.*353G>C) n.11329G>C c.*6941G>C (n.*6941G>C) c.11184G>C (p.Gln3728His) c.11259G>C (p.Gln3753His) c.11256G>C (p.Gln3752His) c.11181G>C (p.Gln3727His) c.10881G>C (p.Gln3627His) c.8145G>C (p.Gln2715His) c.7038G>C (p.Gln2346His) c.11064G>C (p.Gln3688His) c.6816G>C (p.Gln2272His) c.10044G>C (p.Gln3348His) | |
| 8 | g.99861915G>T | CA371790705 | VPS13B | c.*353G>T (n.*353G>T) n.11329G>T c.*6941G>T (n.*6941G>T) c.11184G>T (p.Gln3728His) c.11259G>T (p.Gln3753His) c.11256G>T (p.Gln3752His) c.11181G>T (p.Gln3727His) c.10881G>T (p.Gln3627His) c.8145G>T (p.Gln2715His) c.7038G>T (p.Gln2346His) c.11064G>T (p.Gln3688His) c.6816G>T (p.Gln2272His) c.10044G>T (p.Gln3348His) | gnomAD v4 COSMIC COSMIC |
| 8 | g.99861916G>A | CA371790706 | VPS13B | c.*354G>A (n.*354G>A) n.11330G>A c.*6942G>A (n.*6942G>A) c.11185G>A (p.Gly3729Ser) c.11260G>A (p.Gly3754Ser) c.11257G>A (p.Gly3753Ser) c.11182G>A (p.Gly3728Ser) c.10882G>A (p.Gly3628Ser) c.8146G>A (p.Gly2716Ser) c.7039G>A (p.Gly2347Ser) c.11065G>A (p.Gly3689Ser) c.6817G>A (p.Gly2273Ser) c.10045G>A (p.Gly3349Ser) | |
| 8 | g.99861916G>C | CA371790707 | VPS13B | c.*354G>C (n.*354G>C) n.11330G>C c.*6942G>C (n.*6942G>C) c.11185G>C (p.Gly3729Arg) c.11260G>C (p.Gly3754Arg) c.11257G>C (p.Gly3753Arg) c.11182G>C (p.Gly3728Arg) c.10882G>C (p.Gly3628Arg) c.8146G>C (p.Gly2716Arg) c.7039G>C (p.Gly2347Arg) c.11065G>C (p.Gly3689Arg) c.6817G>C (p.Gly2273Arg) c.10045G>C (p.Gly3349Arg) | COSMIC COSMIC |
| 8 | g.99861916G>T | CA371790708 | VPS13B | c.*354G>T (n.*354G>T) n.11330G>T c.*6942G>T (n.*6942G>T) c.11185G>T (p.Gly3729Cys) c.11260G>T (p.Gly3754Cys) c.11257G>T (p.Gly3753Cys) c.11182G>T (p.Gly3728Cys) c.10882G>T (p.Gly3628Cys) c.8146G>T (p.Gly2716Cys) c.7039G>T (p.Gly2347Cys) c.11065G>T (p.Gly3689Cys) c.6817G>T (p.Gly2273Cys) c.10045G>T (p.Gly3349Cys) | |
| 8 | g.99861917G>A | CA371790709 | VPS13B | c.*355G>A (n.*355G>A) n.11331G>A c.*6943G>A (n.*6943G>A) c.11186G>A (p.Gly3729Asp) c.11261G>A (p.Gly3754Asp) c.11258G>A (p.Gly3753Asp) c.11183G>A (p.Gly3728Asp) c.10883G>A (p.Gly3628Asp) c.8147G>A (p.Gly2716Asp) c.7040G>A (p.Gly2347Asp) c.11066G>A (p.Gly3689Asp) c.6818G>A (p.Gly2273Asp) c.10046G>A (p.Gly3349Asp) | gnomAD v4 |
| 8 | g.99861917G>C | CA371790710 | VPS13B | c.*355G>C (n.*355G>C) n.11331G>C c.*6943G>C (n.*6943G>C) c.11186G>C (p.Gly3729Ala) c.11261G>C (p.Gly3754Ala) c.11258G>C (p.Gly3753Ala) c.11183G>C (p.Gly3728Ala) c.10883G>C (p.Gly3628Ala) c.8147G>C (p.Gly2716Ala) c.7040G>C (p.Gly2347Ala) c.11066G>C (p.Gly3689Ala) c.6818G>C (p.Gly2273Ala) c.10046G>C (p.Gly3349Ala) | |
| 8 | g.99861917G>T | CA371790711 | VPS13B | c.*355G>T (n.*355G>T) n.11331G>T c.*6943G>T (n.*6943G>T) c.11186G>T (p.Gly3729Val) c.11261G>T (p.Gly3754Val) c.11258G>T (p.Gly3753Val) c.11183G>T (p.Gly3728Val) c.10883G>T (p.Gly3628Val) c.8147G>T (p.Gly2716Val) c.7040G>T (p.Gly2347Val) c.11066G>T (p.Gly3689Val) c.6818G>T (p.Gly2273Val) c.10046G>T (p.Gly3349Val) | |
| 8 | g.99861918C>A | CA462338490 | VPS13B | c.*356C>A (n.*356C>A) n.11332C>A c.*6944C>A (n.*6944C>A) c.11187C>A (p.Gly3729=) c.11262C>A (p.Gly3754=) c.11259C>A (p.Gly3753=) c.11184C>A (p.Gly3728=) c.10884C>A (p.Gly3628=) c.8148C>A (p.Gly2716=) c.7041C>A (p.Gly2347=) c.11067C>A (p.Gly3689=) c.6819C>A (p.Gly2273=) c.10047C>A (p.Gly3349=) | gnomAD v4 |
| 8 | g.99861918C>G | CA462338492 | VPS13B | c.*356C>G (n.*356C>G) n.11332C>G c.*6944C>G (n.*6944C>G) c.11187C>G (p.Gly3729=) c.11262C>G (p.Gly3754=) c.11259C>G (p.Gly3753=) c.11184C>G (p.Gly3728=) c.10884C>G (p.Gly3628=) c.8148C>G (p.Gly2716=) c.7041C>G (p.Gly2347=) c.11067C>G (p.Gly3689=) c.6819C>G (p.Gly2273=) c.10047C>G (p.Gly3349=) | ClinVar |
| 8 | g.99861918C>T | CA462338494 | VPS13B | c.*356C>T (n.*356C>T) n.11332C>T c.*6944C>T (n.*6944C>T) c.11187C>T (p.Gly3729=) c.11262C>T (p.Gly3754=) c.11259C>T (p.Gly3753=) c.11184C>T (p.Gly3728=) c.10884C>T (p.Gly3628=) c.8148C>T (p.Gly2716=) c.7041C>T (p.Gly2347=) c.11067C>T (p.Gly3689=) c.6819C>T (p.Gly2273=) c.10047C>T (p.Gly3349=) | dbSNP gnomAD v4 |
| 8 | g.99861919C>A | CA371790712 | VPS13B | c.*357C>A (n.*357C>A) n.11333C>A c.*6945C>A (n.*6945C>A) c.11188C>A (p.Leu3730Met) c.11263C>A (p.Leu3755Met) c.11260C>A (p.Leu3754Met) c.11185C>A (p.Leu3729Met) c.10885C>A (p.Leu3629Met) c.8149C>A (p.Leu2717Met) c.7042C>A (p.Leu2348Met) c.11068C>A (p.Leu3690Met) c.6820C>A (p.Leu2274Met) c.10048C>A (p.Leu3350Met) | gnomAD v4 |
| 8 | g.99861919C>G | CA371790713 | VPS13B | c.*357C>G (n.*357C>G) n.11333C>G c.*6945C>G (n.*6945C>G) c.11188C>G (p.Leu3730Val) c.11263C>G (p.Leu3755Val) c.11260C>G (p.Leu3754Val) c.11185C>G (p.Leu3729Val) c.10885C>G (p.Leu3629Val) c.8149C>G (p.Leu2717Val) c.7042C>G (p.Leu2348Val) c.11068C>G (p.Leu3690Val) c.6820C>G (p.Leu2274Val) c.10048C>G (p.Leu3350Val) | |
| 8 | g.99861919C>T | CA4825162 | VPS13B | c.*357C>T (n.*357C>T) n.11333C>T c.*6945C>T (n.*6945C>T) c.11188C>T (p.Leu3730=) c.11263C>T (p.Leu3755=) c.11260C>T (p.Leu3754=) c.11185C>T (p.Leu3729=) c.10885C>T (p.Leu3629=) c.8149C>T (p.Leu2717=) c.7042C>T (p.Leu2348=) c.11068C>T (p.Leu3690=) c.6820C>T (p.Leu2274=) c.10048C>T (p.Leu3350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861920T>A | CA371790715 | VPS13B | c.*358T>A (n.*358T>A) n.11334T>A c.*6946T>A (n.*6946T>A) c.11189T>A (p.Leu3730Gln) c.11264T>A (p.Leu3755Gln) c.11261T>A (p.Leu3754Gln) c.11186T>A (p.Leu3729Gln) c.10886T>A (p.Leu3629Gln) c.8150T>A (p.Leu2717Gln) c.7043T>A (p.Leu2348Gln) c.11069T>A (p.Leu3690Gln) c.6821T>A (p.Leu2274Gln) c.10049T>A (p.Leu3350Gln) | |
| 8 | g.99861920T>C | CA371790714 | VPS13B | c.*358T>C (n.*358T>C) n.11334T>C c.*6946T>C (n.*6946T>C) c.11189T>C (p.Leu3730Pro) c.11264T>C (p.Leu3755Pro) c.11261T>C (p.Leu3754Pro) c.11186T>C (p.Leu3729Pro) c.10886T>C (p.Leu3629Pro) c.8150T>C (p.Leu2717Pro) c.7043T>C (p.Leu2348Pro) c.11069T>C (p.Leu3690Pro) c.6821T>C (p.Leu2274Pro) c.10049T>C (p.Leu3350Pro) | gnomAD v4 |
| 8 | g.99861920T>G | CA371790716 | VPS13B | c.*358T>G (n.*358T>G) n.11334T>G c.*6946T>G (n.*6946T>G) c.11189T>G (p.Leu3730Arg) c.11264T>G (p.Leu3755Arg) c.11261T>G (p.Leu3754Arg) c.11186T>G (p.Leu3729Arg) c.10886T>G (p.Leu3629Arg) c.8150T>G (p.Leu2717Arg) c.7043T>G (p.Leu2348Arg) c.11069T>G (p.Leu3690Arg) c.6821T>G (p.Leu2274Arg) c.10049T>G (p.Leu3350Arg) | |
| 8 | g.99861921G>A | CA462338507 | VPS13B | c.*359G>A (n.*359G>A) n.11335G>A c.*6947G>A (n.*6947G>A) c.11190G>A (p.Leu3730=) c.11265G>A (p.Leu3755=) c.11262G>A (p.Leu3754=) c.11187G>A (p.Leu3729=) c.10887G>A (p.Leu3629=) c.8151G>A (p.Leu2717=) c.7044G>A (p.Leu2348=) c.11070G>A (p.Leu3690=) c.6822G>A (p.Leu2274=) c.10050G>A (p.Leu3350=) | |
| 8 | g.99861921G>C | CA462338509 | VPS13B | c.*359G>C (n.*359G>C) n.11335G>C c.*6947G>C (n.*6947G>C) c.11190G>C (p.Leu3730=) c.11265G>C (p.Leu3755=) c.11262G>C (p.Leu3754=) c.11187G>C (p.Leu3729=) c.10887G>C (p.Leu3629=) c.8151G>C (p.Leu2717=) c.7044G>C (p.Leu2348=) c.11070G>C (p.Leu3690=) c.6822G>C (p.Leu2274=) c.10050G>C (p.Leu3350=) | dbSNP gnomAD v2 gnomAD v4 |