UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.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) |