WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99861836C>A | CA371790435 | VPS13B | c.*274C>A (n.*274C>A) n.11250C>A c.*6862C>A (n.*6862C>A) c.11105C>A (p.Ser3702Ter) c.11180C>A (p.Ser3727Ter) c.11177C>A (p.Ser3726Ter) c.11102C>A (p.Ser3701Ter) c.10802C>A (p.Ser3601Ter) c.8066C>A (p.Ser2689Ter) c.6959C>A (p.Ser2320Ter) c.10985C>A (p.Ser3662Ter) c.6737C>A (p.Ser2246Ter) c.9965C>A (p.Ser3322Ter) | |
| 8 | g.99861836C>G | CA371790438 | VPS13B | c.*274C>G (n.*274C>G) n.11250C>G c.*6862C>G (n.*6862C>G) c.11105C>G (p.Ser3702Ter) c.11180C>G (p.Ser3727Ter) c.11177C>G (p.Ser3726Ter) c.11102C>G (p.Ser3701Ter) c.10802C>G (p.Ser3601Ter) c.8066C>G (p.Ser2689Ter) c.6959C>G (p.Ser2320Ter) c.10985C>G (p.Ser3662Ter) c.6737C>G (p.Ser2246Ter) c.9965C>G (p.Ser3322Ter) | |
| 8 | g.99861836C>T | CA371790440 | VPS13B | c.*274C>T (n.*274C>T) n.11250C>T c.*6862C>T (n.*6862C>T) c.11105C>T (p.Ser3702Leu) c.11180C>T (p.Ser3727Leu) c.11177C>T (p.Ser3726Leu) c.11102C>T (p.Ser3701Leu) c.10802C>T (p.Ser3601Leu) c.8066C>T (p.Ser2689Leu) c.6959C>T (p.Ser2320Leu) c.10985C>T (p.Ser3662Leu) c.6737C>T (p.Ser2246Leu) c.9965C>T (p.Ser3322Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861836_99861845del | CA16041272 | VPS13B | c.*274_*283del (n.*274_*283del) n.11250_11259del c.*6862_*6871del (n.*6862_*6871del) c.11105_11114del (p.Ser3702TrpfsTer?) c.11180_11189del (p.Ser3727TrpfsTer?) c.11177_11186del (p.Ser3726TrpfsTer?) c.11102_11111del (p.Ser3701TrpfsTer?) c.10802_10811del (p.Ser3601TrpfsTer?) c.8066_8075del (p.Ser2689TrpfsTer?) c.6959_6968del (p.Ser2320TrpfsTer?) c.10985_10994del (p.Ser3662TrpfsTer?) c.6737_6746del (p.Ser2246TrpfsTer?) c.9965_9974del (p.Ser3322TrpfsTer?) | ClinVar dbSNP |
| 8 | g.99861837A>C | CA462338068 | VPS13B | c.*275A>C (n.*275A>C) n.11251A>C c.*6863A>C (n.*6863A>C) c.11106A>C (p.Ser3702=) c.11181A>C (p.Ser3727=) c.11178A>C (p.Ser3726=) c.11103A>C (p.Ser3701=) c.10803A>C (p.Ser3601=) c.8067A>C (p.Ser2689=) c.6960A>C (p.Ser2320=) c.10986A>C (p.Ser3662=) c.6738A>C (p.Ser2246=) c.9966A>C (p.Ser3322=) | |
| 8 | g.99861837A>G | CA462338069 | VPS13B | c.*275A>G (n.*275A>G) n.11251A>G c.*6863A>G (n.*6863A>G) c.11106A>G (p.Ser3702=) c.11181A>G (p.Ser3727=) c.11178A>G (p.Ser3726=) c.11103A>G (p.Ser3701=) c.10803A>G (p.Ser3601=) c.8067A>G (p.Ser2689=) c.6960A>G (p.Ser2320=) c.10986A>G (p.Ser3662=) c.6738A>G (p.Ser2246=) c.9966A>G (p.Ser3322=) | dbSNP gnomAD v4 |
| 8 | g.99861837A>T | CA462338070 | VPS13B | c.*275A>T (n.*275A>T) n.11251A>T c.*6863A>T (n.*6863A>T) c.11106A>T (p.Ser3702=) c.11181A>T (p.Ser3727=) c.11178A>T (p.Ser3726=) c.11103A>T (p.Ser3701=) c.10803A>T (p.Ser3601=) c.8067A>T (p.Ser2689=) c.6960A>T (p.Ser2320=) c.10986A>T (p.Ser3662=) c.6738A>T (p.Ser2246=) c.9966A>T (p.Ser3322=) | |
| 8 | g.99861838C>A | CA371790444 | VPS13B | c.*276C>A (n.*276C>A) n.11252C>A c.*6864C>A (n.*6864C>A) c.11107C>A (p.Leu3703Met) c.11182C>A (p.Leu3728Met) c.11179C>A (p.Leu3727Met) c.11104C>A (p.Leu3702Met) c.10804C>A (p.Leu3602Met) c.8068C>A (p.Leu2690Met) c.6961C>A (p.Leu2321Met) c.10987C>A (p.Leu3663Met) c.6739C>A (p.Leu2247Met) c.9967C>A (p.Leu3323Met) | gnomAD v4 |
| 8 | g.99861838C>G | CA371790446 | VPS13B | c.*276C>G (n.*276C>G) n.11252C>G c.*6864C>G (n.*6864C>G) c.11107C>G (p.Leu3703Val) c.11182C>G (p.Leu3728Val) c.11179C>G (p.Leu3727Val) c.11104C>G (p.Leu3702Val) c.10804C>G (p.Leu3602Val) c.8068C>G (p.Leu2690Val) c.6961C>G (p.Leu2321Val) c.10987C>G (p.Leu3663Val) c.6739C>G (p.Leu2247Val) c.9967C>G (p.Leu3323Val) | |
| 8 | g.99861838C>T | CA462338071 | VPS13B | c.*276C>T (n.*276C>T) n.11252C>T c.*6864C>T (n.*6864C>T) c.11107C>T (p.Leu3703=) c.11182C>T (p.Leu3728=) c.11179C>T (p.Leu3727=) c.11104C>T (p.Leu3702=) c.10804C>T (p.Leu3602=) c.8068C>T (p.Leu2690=) c.6961C>T (p.Leu2321=) c.10987C>T (p.Leu3663=) c.6739C>T (p.Leu2247=) c.9967C>T (p.Leu3323=) | |
| 8 | g.99861839T>A | CA371790448 | VPS13B | c.*277T>A (n.*277T>A) n.11253T>A c.*6865T>A (n.*6865T>A) c.11108T>A (p.Leu3703Gln) c.11183T>A (p.Leu3728Gln) c.11180T>A (p.Leu3727Gln) c.11105T>A (p.Leu3702Gln) c.10805T>A (p.Leu3602Gln) c.8069T>A (p.Leu2690Gln) c.6962T>A (p.Leu2321Gln) c.10988T>A (p.Leu3663Gln) c.6740T>A (p.Leu2247Gln) c.9968T>A (p.Leu3323Gln) | |
| 8 | g.99861839T>C | CA371790450 | VPS13B | c.*277T>C (n.*277T>C) n.11253T>C c.*6865T>C (n.*6865T>C) c.11108T>C (p.Leu3703Pro) c.11183T>C (p.Leu3728Pro) c.11180T>C (p.Leu3727Pro) c.11105T>C (p.Leu3702Pro) c.10805T>C (p.Leu3602Pro) c.8069T>C (p.Leu2690Pro) c.6962T>C (p.Leu2321Pro) c.10988T>C (p.Leu3663Pro) c.6740T>C (p.Leu2247Pro) c.9968T>C (p.Leu3323Pro) | gnomAD v4 |
| 8 | g.99861839T>G | CA371790451 | VPS13B | c.*277T>G (n.*277T>G) n.11253T>G c.*6865T>G (n.*6865T>G) c.11108T>G (p.Leu3703Arg) c.11183T>G (p.Leu3728Arg) c.11180T>G (p.Leu3727Arg) c.11105T>G (p.Leu3702Arg) c.10805T>G (p.Leu3602Arg) c.8069T>G (p.Leu2690Arg) c.6962T>G (p.Leu2321Arg) c.10988T>G (p.Leu3663Arg) c.6740T>G (p.Leu2247Arg) c.9968T>G (p.Leu3323Arg) | |
| 8 | g.99861840G>A | CA4825145 | VPS13B | c.*278G>A (n.*278G>A) n.11254G>A c.*6866G>A (n.*6866G>A) c.11109G>A (p.Leu3703=) c.11184G>A (p.Leu3728=) c.11181G>A (p.Leu3727=) c.11106G>A (p.Leu3702=) c.10806G>A (p.Leu3602=) c.8070G>A (p.Leu2690=) c.6963G>A (p.Leu2321=) c.10989G>A (p.Leu3663=) c.6741G>A (p.Leu2247=) c.9969G>A (p.Leu3323=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99861840G>C | CA462338072 | VPS13B | c.*278G>C (n.*278G>C) n.11254G>C c.*6866G>C (n.*6866G>C) c.11109G>C (p.Leu3703=) c.11184G>C (p.Leu3728=) c.11181G>C (p.Leu3727=) c.11106G>C (p.Leu3702=) c.10806G>C (p.Leu3602=) c.8070G>C (p.Leu2690=) c.6963G>C (p.Leu2321=) c.10989G>C (p.Leu3663=) c.6741G>C (p.Leu2247=) c.9969G>C (p.Leu3323=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861840G>T | CA462338073 | VPS13B | c.*278G>T (n.*278G>T) n.11254G>T c.*6866G>T (n.*6866G>T) c.11109G>T (p.Leu3703=) c.11184G>T (p.Leu3728=) c.11181G>T (p.Leu3727=) c.11106G>T (p.Leu3702=) c.10806G>T (p.Leu3602=) c.8070G>T (p.Leu2690=) c.6963G>T (p.Leu2321=) c.10989G>T (p.Leu3663=) c.6741G>T (p.Leu2247=) c.9969G>T (p.Leu3323=) | gnomAD v4 |
| 8 | g.99861841G>A | CA371790457 | VPS13B | c.*279G>A (n.*279G>A) n.11255G>A c.*6867G>A (n.*6867G>A) c.11110G>A (p.Asp3704Asn) c.11185G>A (p.Asp3729Asn) c.11182G>A (p.Asp3728Asn) c.11107G>A (p.Asp3703Asn) c.10807G>A (p.Asp3603Asn) c.8071G>A (p.Asp2691Asn) c.6964G>A (p.Asp2322Asn) c.10990G>A (p.Asp3664Asn) c.6742G>A (p.Asp2248Asn) c.9970G>A (p.Asp3324Asn) | COSMIC COSMIC |
| 8 | g.99861841G>C | CA371790455 | VPS13B | c.*279G>C (n.*279G>C) n.11255G>C c.*6867G>C (n.*6867G>C) c.11110G>C (p.Asp3704His) c.11185G>C (p.Asp3729His) c.11182G>C (p.Asp3728His) c.11107G>C (p.Asp3703His) c.10807G>C (p.Asp3603His) c.8071G>C (p.Asp2691His) c.6964G>C (p.Asp2322His) c.10990G>C (p.Asp3664His) c.6742G>C (p.Asp2248His) c.9970G>C (p.Asp3324His) | |
| 8 | g.99861841G>T | CA371790453 | VPS13B | c.*279G>T (n.*279G>T) n.11255G>T c.*6867G>T (n.*6867G>T) c.11110G>T (p.Asp3704Tyr) c.11185G>T (p.Asp3729Tyr) c.11182G>T (p.Asp3728Tyr) c.11107G>T (p.Asp3703Tyr) c.10807G>T (p.Asp3603Tyr) c.8071G>T (p.Asp2691Tyr) c.6964G>T (p.Asp2322Tyr) c.10990G>T (p.Asp3664Tyr) c.6742G>T (p.Asp2248Tyr) c.9970G>T (p.Asp3324Tyr) | gnomAD v4 |
| 8 | g.99861842A>C | CA371790460 | VPS13B | c.*280A>C (n.*280A>C) n.11256A>C c.*6868A>C (n.*6868A>C) c.11111A>C (p.Asp3704Ala) c.11186A>C (p.Asp3729Ala) c.11183A>C (p.Asp3728Ala) c.11108A>C (p.Asp3703Ala) c.10808A>C (p.Asp3603Ala) c.8072A>C (p.Asp2691Ala) c.6965A>C (p.Asp2322Ala) c.10991A>C (p.Asp3664Ala) c.6743A>C (p.Asp2248Ala) c.9971A>C (p.Asp3324Ala) | |
| 8 | g.99861842A>G | CA371790461 | VPS13B | c.*280A>G (n.*280A>G) n.11256A>G c.*6868A>G (n.*6868A>G) c.11111A>G (p.Asp3704Gly) c.11186A>G (p.Asp3729Gly) c.11183A>G (p.Asp3728Gly) c.11108A>G (p.Asp3703Gly) c.10808A>G (p.Asp3603Gly) c.8072A>G (p.Asp2691Gly) c.6965A>G (p.Asp2322Gly) c.10991A>G (p.Asp3664Gly) c.6743A>G (p.Asp2248Gly) c.9971A>G (p.Asp3324Gly) | gnomAD v4 |
| 8 | g.99861842A>T | CA371790462 | VPS13B | c.*280A>T (n.*280A>T) n.11256A>T c.*6868A>T (n.*6868A>T) c.11111A>T (p.Asp3704Val) c.11186A>T (p.Asp3729Val) c.11183A>T (p.Asp3728Val) c.11108A>T (p.Asp3703Val) c.10808A>T (p.Asp3603Val) c.8072A>T (p.Asp2691Val) c.6965A>T (p.Asp2322Val) c.10991A>T (p.Asp3664Val) c.6743A>T (p.Asp2248Val) c.9971A>T (p.Asp3324Val) | |
| 8 | g.99861843T>A | CA371790465 | VPS13B | c.*281T>A (n.*281T>A) n.11257T>A c.*6869T>A (n.*6869T>A) c.11112T>A (p.Asp3704Glu) c.11187T>A (p.Asp3729Glu) c.11184T>A (p.Asp3728Glu) c.11109T>A (p.Asp3703Glu) c.10809T>A (p.Asp3603Glu) c.8073T>A (p.Asp2691Glu) c.6966T>A (p.Asp2322Glu) c.10992T>A (p.Asp3664Glu) c.6744T>A (p.Asp2248Glu) c.9972T>A (p.Asp3324Glu) | |
| 8 | g.99861843T>C | CA462338074 | VPS13B | c.*281T>C (n.*281T>C) n.11257T>C c.*6869T>C (n.*6869T>C) c.11112T>C (p.Asp3704=) c.11187T>C (p.Asp3729=) c.11184T>C (p.Asp3728=) c.11109T>C (p.Asp3703=) c.10809T>C (p.Asp3603=) c.8073T>C (p.Asp2691=) c.6966T>C (p.Asp2322=) c.10992T>C (p.Asp3664=) c.6744T>C (p.Asp2248=) c.9972T>C (p.Asp3324=) | |
| 8 | g.99861843T>G | CA371790467 | VPS13B | c.*281T>G (n.*281T>G) n.11257T>G c.*6869T>G (n.*6869T>G) c.11112T>G (p.Asp3704Glu) c.11187T>G (p.Asp3729Glu) c.11184T>G (p.Asp3728Glu) c.11109T>G (p.Asp3703Glu) c.10809T>G (p.Asp3603Glu) c.8073T>G (p.Asp2691Glu) c.6966T>G (p.Asp2322Glu) c.10992T>G (p.Asp3664Glu) c.6744T>G (p.Asp2248Glu) c.9972T>G (p.Asp3324Glu) | gnomAD v4 |
| 8 | g.99861844G>A | CA4825146 | VPS13B | c.*282G>A (n.*282G>A) n.11258G>A c.*6870G>A (n.*6870G>A) c.11113G>A (p.Glu3705Lys) c.11188G>A (p.Glu3730Lys) c.11185G>A (p.Glu3729Lys) c.11110G>A (p.Glu3704Lys) c.10810G>A (p.Glu3604Lys) c.8074G>A (p.Glu2692Lys) c.6967G>A (p.Glu2323Lys) c.10993G>A (p.Glu3665Lys) c.6745G>A (p.Glu2249Lys) c.9973G>A (p.Glu3325Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99861844G>C | CA371790470 | VPS13B | c.*282G>C (n.*282G>C) n.11258G>C c.*6870G>C (n.*6870G>C) c.11113G>C (p.Glu3705Gln) c.11188G>C (p.Glu3730Gln) c.11185G>C (p.Glu3729Gln) c.11110G>C (p.Glu3704Gln) c.10810G>C (p.Glu3604Gln) c.8074G>C (p.Glu2692Gln) c.6967G>C (p.Glu2323Gln) c.10993G>C (p.Glu3665Gln) c.6745G>C (p.Glu2249Gln) c.9973G>C (p.Glu3325Gln) | |
| 8 | g.99861844G>T | CA182321424 | VPS13B | c.*282G>T (n.*282G>T) n.11258G>T c.*6870G>T (n.*6870G>T) c.11113G>T (p.Glu3705Ter) c.11188G>T (p.Glu3730Ter) c.11185G>T (p.Glu3729Ter) c.11110G>T (p.Glu3704Ter) c.10810G>T (p.Glu3604Ter) c.8074G>T (p.Glu2692Ter) c.6967G>T (p.Glu2323Ter) c.10993G>T (p.Glu3665Ter) c.6745G>T (p.Glu2249Ter) c.9973G>T (p.Glu3325Ter) | dbSNP gnomAD v4 |
| 8 | g.99861845A>C | CA371790474 | VPS13B | c.*283A>C (n.*283A>C) n.11259A>C c.*6871A>C (n.*6871A>C) c.11114A>C (p.Glu3705Ala) c.11189A>C (p.Glu3730Ala) c.11186A>C (p.Glu3729Ala) c.11111A>C (p.Glu3704Ala) c.10811A>C (p.Glu3604Ala) c.8075A>C (p.Glu2692Ala) c.6968A>C (p.Glu2323Ala) c.10994A>C (p.Glu3665Ala) c.6746A>C (p.Glu2249Ala) c.9974A>C (p.Glu3325Ala) | |
| 8 | g.99861845A>G | CA371790476 | VPS13B | c.*283A>G (n.*283A>G) n.11259A>G c.*6871A>G (n.*6871A>G) c.11114A>G (p.Glu3705Gly) c.11189A>G (p.Glu3730Gly) c.11186A>G (p.Glu3729Gly) c.11111A>G (p.Glu3704Gly) c.10811A>G (p.Glu3604Gly) c.8075A>G (p.Glu2692Gly) c.6968A>G (p.Glu2323Gly) c.10994A>G (p.Glu3665Gly) c.6746A>G (p.Glu2249Gly) c.9974A>G (p.Glu3325Gly) | |
| 8 | g.99861845A>T | CA4825147 | VPS13B | c.*283A>T (n.*283A>T) n.11259A>T c.*6871A>T (n.*6871A>T) c.11114A>T (p.Glu3705Val) c.11189A>T (p.Glu3730Val) c.11186A>T (p.Glu3729Val) c.11111A>T (p.Glu3704Val) c.10811A>T (p.Glu3604Val) c.8075A>T (p.Glu2692Val) c.6968A>T (p.Glu2323Val) c.10994A>T (p.Glu3665Val) c.6746A>T (p.Glu2249Val) c.9974A>T (p.Glu3325Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861846G>A | CA462338075 | VPS13B | c.*284G>A (n.*284G>A) n.11260G>A c.*6872G>A (n.*6872G>A) c.11115G>A (p.Glu3705=) c.11190G>A (p.Glu3730=) c.11187G>A (p.Glu3729=) c.11112G>A (p.Glu3704=) c.10812G>A (p.Glu3604=) c.8076G>A (p.Glu2692=) c.6969G>A (p.Glu2323=) c.10995G>A (p.Glu3665=) c.6747G>A (p.Glu2249=) c.9975G>A (p.Glu3325=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99861846G>C | CA371790478 | VPS13B | c.*284G>C (n.*284G>C) n.11260G>C c.*6872G>C (n.*6872G>C) c.11115G>C (p.Glu3705Asp) c.11190G>C (p.Glu3730Asp) c.11187G>C (p.Glu3729Asp) c.11112G>C (p.Glu3704Asp) c.10812G>C (p.Glu3604Asp) c.8076G>C (p.Glu2692Asp) c.6969G>C (p.Glu2323Asp) c.10995G>C (p.Glu3665Asp) c.6747G>C (p.Glu2249Asp) c.9975G>C (p.Glu3325Asp) | |
| 8 | g.99861846G>T | CA371790480 | VPS13B | c.*284G>T (n.*284G>T) n.11260G>T c.*6872G>T (n.*6872G>T) c.11115G>T (p.Glu3705Asp) c.11190G>T (p.Glu3730Asp) c.11187G>T (p.Glu3729Asp) c.11112G>T (p.Glu3704Asp) c.10812G>T (p.Glu3604Asp) c.8076G>T (p.Glu2692Asp) c.6969G>T (p.Glu2323Asp) c.10995G>T (p.Glu3665Asp) c.6747G>T (p.Glu2249Asp) c.9975G>T (p.Glu3325Asp) | |
| 8 | g.99861847G>A | CA371790486 | VPS13B | c.*285G>A (n.*285G>A) n.11261G>A c.*6873G>A (n.*6873G>A) c.11116G>A (p.Glu3706Lys) c.11191G>A (p.Glu3731Lys) c.11188G>A (p.Glu3730Lys) c.11113G>A (p.Glu3705Lys) c.10813G>A (p.Glu3605Lys) c.8077G>A (p.Glu2693Lys) c.6970G>A (p.Glu2324Lys) c.10996G>A (p.Glu3666Lys) c.6748G>A (p.Glu2250Lys) c.9976G>A (p.Glu3326Lys) | gnomAD v4 |
| 8 | g.99861847G>C | CA371790484 | VPS13B | c.*285G>C (n.*285G>C) n.11261G>C c.*6873G>C (n.*6873G>C) c.11116G>C (p.Glu3706Gln) c.11191G>C (p.Glu3731Gln) c.11188G>C (p.Glu3730Gln) c.11113G>C (p.Glu3705Gln) c.10813G>C (p.Glu3605Gln) c.8077G>C (p.Glu2693Gln) c.6970G>C (p.Glu2324Gln) c.10996G>C (p.Glu3666Gln) c.6748G>C (p.Glu2250Gln) c.9976G>C (p.Glu3326Gln) | |
| 8 | g.99861847G>T | CA371790482 | VPS13B | c.*285G>T (n.*285G>T) n.11261G>T c.*6873G>T (n.*6873G>T) c.11116G>T (p.Glu3706Ter) c.11191G>T (p.Glu3731Ter) c.11188G>T (p.Glu3730Ter) c.11113G>T (p.Glu3705Ter) c.10813G>T (p.Glu3605Ter) c.8077G>T (p.Glu2693Ter) c.6970G>T (p.Glu2324Ter) c.10996G>T (p.Glu3666Ter) c.6748G>T (p.Glu2250Ter) c.9976G>T (p.Glu3326Ter) | |
| 8 | g.99861848A>C | CA371790487 | VPS13B | c.*286A>C (n.*286A>C) n.11262A>C c.*6874A>C (n.*6874A>C) c.11117A>C (p.Glu3706Ala) c.11192A>C (p.Glu3731Ala) c.11189A>C (p.Glu3730Ala) c.11114A>C (p.Glu3705Ala) c.10814A>C (p.Glu3605Ala) c.8078A>C (p.Glu2693Ala) c.6971A>C (p.Glu2324Ala) c.10997A>C (p.Glu3666Ala) c.6749A>C (p.Glu2250Ala) c.9977A>C (p.Glu3326Ala) | |
| 8 | g.99861848A>G | CA371790489 | VPS13B | c.*286A>G (n.*286A>G) n.11262A>G c.*6874A>G (n.*6874A>G) c.11117A>G (p.Glu3706Gly) c.11192A>G (p.Glu3731Gly) c.11189A>G (p.Glu3730Gly) c.11114A>G (p.Glu3705Gly) c.10814A>G (p.Glu3605Gly) c.8078A>G (p.Glu2693Gly) c.6971A>G (p.Glu2324Gly) c.10997A>G (p.Glu3666Gly) c.6749A>G (p.Glu2250Gly) c.9977A>G (p.Glu3326Gly) | gnomAD v4 |
| 8 | g.99861848A>T | CA371790491 | VPS13B | c.*286A>T (n.*286A>T) n.11262A>T c.*6874A>T (n.*6874A>T) c.11117A>T (p.Glu3706Val) c.11192A>T (p.Glu3731Val) c.11189A>T (p.Glu3730Val) c.11114A>T (p.Glu3705Val) c.10814A>T (p.Glu3605Val) c.8078A>T (p.Glu2693Val) c.6971A>T (p.Glu2324Val) c.10997A>T (p.Glu3666Val) c.6749A>T (p.Glu2250Val) c.9977A>T (p.Glu3326Val) | gnomAD v4 |
| 8 | g.99861849G>A | CA4825148 | VPS13B | c.*287G>A (n.*287G>A) n.11263G>A c.*6875G>A (n.*6875G>A) c.11118G>A (p.Glu3706=) c.11193G>A (p.Glu3731=) c.11190G>A (p.Glu3730=) c.11115G>A (p.Glu3705=) c.10815G>A (p.Glu3605=) c.8079G>A (p.Glu2693=) c.6972G>A (p.Glu2324=) c.10998G>A (p.Glu3666=) c.6750G>A (p.Glu2250=) c.9978G>A (p.Glu3326=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99861849G>C | CA371790495 | VPS13B | c.*287G>C (n.*287G>C) n.11263G>C c.*6875G>C (n.*6875G>C) c.11118G>C (p.Glu3706Asp) c.11193G>C (p.Glu3731Asp) c.11190G>C (p.Glu3730Asp) c.11115G>C (p.Glu3705Asp) c.10815G>C (p.Glu3605Asp) c.8079G>C (p.Glu2693Asp) c.6972G>C (p.Glu2324Asp) c.10998G>C (p.Glu3666Asp) c.6750G>C (p.Glu2250Asp) c.9978G>C (p.Glu3326Asp) | |
| 8 | g.99861849G>T | CA371790497 | VPS13B | c.*287G>T (n.*287G>T) n.11263G>T c.*6875G>T (n.*6875G>T) c.11118G>T (p.Glu3706Asp) c.11193G>T (p.Glu3731Asp) c.11190G>T (p.Glu3730Asp) c.11115G>T (p.Glu3705Asp) c.10815G>T (p.Glu3605Asp) c.8079G>T (p.Glu2693Asp) c.6972G>T (p.Glu2324Asp) c.10998G>T (p.Glu3666Asp) c.6750G>T (p.Glu2250Asp) c.9978G>T (p.Glu3326Asp) | gnomAD v4 |
| 8 | g.99861850C>A | CA371790499 | VPS13B | c.*288C>A (n.*288C>A) n.11264C>A c.*6876C>A (n.*6876C>A) c.11119C>A (p.His3707Asn) c.11194C>A (p.His3732Asn) c.11191C>A (p.His3731Asn) c.11116C>A (p.His3706Asn) c.10816C>A (p.His3606Asn) c.8080C>A (p.His2694Asn) c.6973C>A (p.His2325Asn) c.10999C>A (p.His3667Asn) c.6751C>A (p.His2251Asn) c.9979C>A (p.His3327Asn) | gnomAD v4 |
| 8 | g.99861850C>G | CA371790500 | VPS13B | c.*288C>G (n.*288C>G) n.11264C>G c.*6876C>G (n.*6876C>G) c.11119C>G (p.His3707Asp) c.11194C>G (p.His3732Asp) c.11191C>G (p.His3731Asp) c.11116C>G (p.His3706Asp) c.10816C>G (p.His3606Asp) c.8080C>G (p.His2694Asp) c.6973C>G (p.His2325Asp) c.10999C>G (p.His3667Asp) c.6751C>G (p.His2251Asp) c.9979C>G (p.His3327Asp) | |
| 8 | g.99861850C>T | CA371790502 | VPS13B | c.*288C>T (n.*288C>T) n.11264C>T c.*6876C>T (n.*6876C>T) c.11119C>T (p.His3707Tyr) c.11194C>T (p.His3732Tyr) c.11191C>T (p.His3731Tyr) c.11116C>T (p.His3706Tyr) c.10816C>T (p.His3606Tyr) c.8080C>T (p.His2694Tyr) c.6973C>T (p.His2325Tyr) c.10999C>T (p.His3667Tyr) c.6751C>T (p.His2251Tyr) c.9979C>T (p.His3327Tyr) | |
| 8 | g.99861851A>C | CA371790504 | VPS13B | c.*289A>C (n.*289A>C) n.11265A>C c.*6877A>C (n.*6877A>C) c.11120A>C (p.His3707Pro) c.11195A>C (p.His3732Pro) c.11192A>C (p.His3731Pro) c.11117A>C (p.His3706Pro) c.10817A>C (p.His3606Pro) c.8081A>C (p.His2694Pro) c.6974A>C (p.His2325Pro) c.11000A>C (p.His3667Pro) c.6752A>C (p.His2251Pro) c.9980A>C (p.His3327Pro) | |
| 8 | g.99861851A>G | CA371790506 | VPS13B | c.*289A>G (n.*289A>G) n.11265A>G c.*6877A>G (n.*6877A>G) c.11120A>G (p.His3707Arg) c.11195A>G (p.His3732Arg) c.11192A>G (p.His3731Arg) c.11117A>G (p.His3706Arg) c.10817A>G (p.His3606Arg) c.8081A>G (p.His2694Arg) c.6974A>G (p.His2325Arg) c.11000A>G (p.His3667Arg) c.6752A>G (p.His2251Arg) c.9980A>G (p.His3327Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861851A>T | CA371790508 | VPS13B | c.*289A>T (n.*289A>T) n.11265A>T c.*6877A>T (n.*6877A>T) c.11120A>T (p.His3707Leu) c.11195A>T (p.His3732Leu) c.11192A>T (p.His3731Leu) c.11117A>T (p.His3706Leu) c.10817A>T (p.His3606Leu) c.8081A>T (p.His2694Leu) c.6974A>T (p.His2325Leu) c.11000A>T (p.His3667Leu) c.6752A>T (p.His2251Leu) c.9980A>T (p.His3327Leu) | |
| 8 | g.99861852C>A | CA371790509 | VPS13B | c.*290C>A (n.*290C>A) n.11266C>A c.*6878C>A (n.*6878C>A) c.11121C>A (p.His3707Gln) c.11196C>A (p.His3732Gln) c.11193C>A (p.His3731Gln) c.11118C>A (p.His3706Gln) c.10818C>A (p.His3606Gln) c.8082C>A (p.His2694Gln) c.6975C>A (p.His2325Gln) c.11001C>A (p.His3667Gln) c.6753C>A (p.His2251Gln) c.9981C>A (p.His3327Gln) | gnomAD v4 |