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.99835201_99835208del | CA583856384 | VPS13B | c.9694_9701del (p.Ile3232AspfsTer18) n.9764_9771del c.*5376_*5383del (n.*5376_*5383del) c.9619_9626del (p.Ile3207AspfsTer18) c.9691_9698del (p.Ile3231AspfsTer18) c.9616_9623del (p.Ile3206AspfsTer18) c.9316_9323del (p.Ile3106AspfsTer18) c.6580_6587del (p.Ile2194AspfsTer18) c.5473_5480del (p.Ile1825AspfsTer18) c.9499_9506del (p.Ile3167AspfsTer18) c.5251_5258del (p.Ile1751AspfsTer18) c.8479_8486del (p.Ile2827AspfsTer18) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99835201A>C | CA371782361 | VPS13B | c.9694A>C (p.Ile3232Leu) n.9764A>C c.*5376A>C (n.*5376A>C) c.9619A>C (p.Ile3207Leu) c.9691A>C (p.Ile3231Leu) c.9616A>C (p.Ile3206Leu) c.9316A>C (p.Ile3106Leu) c.6580A>C (p.Ile2194Leu) c.5473A>C (p.Ile1825Leu) c.9499A>C (p.Ile3167Leu) c.5251A>C (p.Ile1751Leu) c.8479A>C (p.Ile2827Leu) | |
| 8 | g.99835201A>G | CA371782363 | VPS13B | c.9694A>G (p.Ile3232Val) n.9764A>G c.*5376A>G (n.*5376A>G) c.9619A>G (p.Ile3207Val) c.9691A>G (p.Ile3231Val) c.9616A>G (p.Ile3206Val) c.9316A>G (p.Ile3106Val) c.6580A>G (p.Ile2194Val) c.5473A>G (p.Ile1825Val) c.9499A>G (p.Ile3167Val) c.5251A>G (p.Ile1751Val) c.8479A>G (p.Ile2827Val) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99835201A>T | CA371782364 | VPS13B | c.9694A>T (p.Ile3232Leu) n.9764A>T c.*5376A>T (n.*5376A>T) c.9619A>T (p.Ile3207Leu) c.9691A>T (p.Ile3231Leu) c.9616A>T (p.Ile3206Leu) c.9316A>T (p.Ile3106Leu) c.6580A>T (p.Ile2194Leu) c.5473A>T (p.Ile1825Leu) c.9499A>T (p.Ile3167Leu) c.5251A>T (p.Ile1751Leu) c.8479A>T (p.Ile2827Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99835202T>A | CA371782366 | VPS13B | c.9695T>A (p.Ile3232Lys) n.9765T>A c.*5377T>A (n.*5377T>A) c.9620T>A (p.Ile3207Lys) c.9692T>A (p.Ile3231Lys) c.9617T>A (p.Ile3206Lys) c.9317T>A (p.Ile3106Lys) c.6581T>A (p.Ile2194Lys) c.5474T>A (p.Ile1825Lys) c.9500T>A (p.Ile3167Lys) c.5252T>A (p.Ile1751Lys) c.8480T>A (p.Ile2827Lys) | |
| 8 | g.99835202T>C | CA371782368 | VPS13B | c.9695T>C (p.Ile3232Thr) n.9765T>C c.*5377T>C (n.*5377T>C) c.9620T>C (p.Ile3207Thr) c.9692T>C (p.Ile3231Thr) c.9617T>C (p.Ile3206Thr) c.9317T>C (p.Ile3106Thr) c.6581T>C (p.Ile2194Thr) c.5474T>C (p.Ile1825Thr) c.9500T>C (p.Ile3167Thr) c.5252T>C (p.Ile1751Thr) c.8480T>C (p.Ile2827Thr) | gnomAD v4 |
| 8 | g.99835202T>G | CA371782369 | VPS13B | c.9695T>G (p.Ile3232Arg) n.9765T>G c.*5377T>G (n.*5377T>G) c.9620T>G (p.Ile3207Arg) c.9692T>G (p.Ile3231Arg) c.9617T>G (p.Ile3206Arg) c.9317T>G (p.Ile3106Arg) c.6581T>G (p.Ile2194Arg) c.5474T>G (p.Ile1825Arg) c.9500T>G (p.Ile3167Arg) c.5252T>G (p.Ile1751Arg) c.8480T>G (p.Ile2827Arg) | |
| 8 | g.99835203A>C | CA462340557 | VPS13B | c.9696A>C (p.Ile3232=) n.9766A>C c.*5378A>C (n.*5378A>C) c.9621A>C (p.Ile3207=) c.9693A>C (p.Ile3231=) c.9618A>C (p.Ile3206=) c.9318A>C (p.Ile3106=) c.6582A>C (p.Ile2194=) c.5475A>C (p.Ile1825=) c.9501A>C (p.Ile3167=) c.5253A>C (p.Ile1751=) c.8481A>C (p.Ile2827=) | |
| 8 | g.99835203A>G | CA371782370 | VPS13B | c.9696A>G (p.Ile3232Met) n.9766A>G c.*5378A>G (n.*5378A>G) c.9621A>G (p.Ile3207Met) c.9693A>G (p.Ile3231Met) c.9618A>G (p.Ile3206Met) c.9318A>G (p.Ile3106Met) c.6582A>G (p.Ile2194Met) c.5475A>G (p.Ile1825Met) c.9501A>G (p.Ile3167Met) c.5253A>G (p.Ile1751Met) c.8481A>G (p.Ile2827Met) | |
| 8 | g.99835203A>T | CA462340558 | VPS13B | c.9696A>T (p.Ile3232=) n.9766A>T c.*5378A>T (n.*5378A>T) c.9621A>T (p.Ile3207=) c.9693A>T (p.Ile3231=) c.9618A>T (p.Ile3206=) c.9318A>T (p.Ile3106=) c.6582A>T (p.Ile2194=) c.5475A>T (p.Ile1825=) c.9501A>T (p.Ile3167=) c.5253A>T (p.Ile1751=) c.8481A>T (p.Ile2827=) | |
| 8 | g.99835204G>A | CA371782375 | VPS13B | c.9697G>A (p.Val3233Met) n.9767G>A c.*5379G>A (n.*5379G>A) c.9622G>A (p.Val3208Met) c.9694G>A (p.Val3232Met) c.9619G>A (p.Val3207Met) c.9319G>A (p.Val3107Met) c.6583G>A (p.Val2195Met) c.5476G>A (p.Val1826Met) c.9502G>A (p.Val3168Met) c.5254G>A (p.Val1752Met) c.8482G>A (p.Val2828Met) | |
| 8 | g.99835204G>C | CA371782372 | VPS13B | c.9697G>C (p.Val3233Leu) n.9767G>C c.*5379G>C (n.*5379G>C) c.9622G>C (p.Val3208Leu) c.9694G>C (p.Val3232Leu) c.9619G>C (p.Val3207Leu) c.9319G>C (p.Val3107Leu) c.6583G>C (p.Val2195Leu) c.5476G>C (p.Val1826Leu) c.9502G>C (p.Val3168Leu) c.5254G>C (p.Val1752Leu) c.8482G>C (p.Val2828Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99835204G>T | CA371782374 | VPS13B | c.9697G>T (p.Val3233Leu) n.9767G>T c.*5379G>T (n.*5379G>T) c.9622G>T (p.Val3208Leu) c.9694G>T (p.Val3232Leu) c.9619G>T (p.Val3207Leu) c.9319G>T (p.Val3107Leu) c.6583G>T (p.Val2195Leu) c.5476G>T (p.Val1826Leu) c.9502G>T (p.Val3168Leu) c.5254G>T (p.Val1752Leu) c.8482G>T (p.Val2828Leu) | |
| 8 | g.99835205T>A | CA371782377 | VPS13B | c.9698T>A (p.Val3233Glu) n.9768T>A c.*5380T>A (n.*5380T>A) c.9623T>A (p.Val3208Glu) c.9695T>A (p.Val3232Glu) c.9620T>A (p.Val3207Glu) c.9320T>A (p.Val3107Glu) c.6584T>A (p.Val2195Glu) c.5477T>A (p.Val1826Glu) c.9503T>A (p.Val3168Glu) c.5255T>A (p.Val1752Glu) c.8483T>A (p.Val2828Glu) | |
| 8 | g.99835205T>C | CA371782379 | VPS13B | c.9698T>C (p.Val3233Ala) n.9768T>C c.*5380T>C (n.*5380T>C) c.9623T>C (p.Val3208Ala) c.9695T>C (p.Val3232Ala) c.9620T>C (p.Val3207Ala) c.9320T>C (p.Val3107Ala) c.6584T>C (p.Val2195Ala) c.5477T>C (p.Val1826Ala) c.9503T>C (p.Val3168Ala) c.5255T>C (p.Val1752Ala) c.8483T>C (p.Val2828Ala) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99835205T>G | CA371782380 | VPS13B | c.9698T>G (p.Val3233Gly) n.9768T>G c.*5380T>G (n.*5380T>G) c.9623T>G (p.Val3208Gly) c.9695T>G (p.Val3232Gly) c.9620T>G (p.Val3207Gly) c.9320T>G (p.Val3107Gly) c.6584T>G (p.Val2195Gly) c.5477T>G (p.Val1826Gly) c.9503T>G (p.Val3168Gly) c.5255T>G (p.Val1752Gly) c.8483T>G (p.Val2828Gly) | gnomAD v4 |
| 8 | g.99835206G>A | CA462340559 | VPS13B | c.9699G>A (p.Val3233=) n.9769G>A c.*5381G>A (n.*5381G>A) c.9624G>A (p.Val3208=) c.9696G>A (p.Val3232=) c.9621G>A (p.Val3207=) c.9321G>A (p.Val3107=) c.6585G>A (p.Val2195=) c.5478G>A (p.Val1826=) c.9504G>A (p.Val3168=) c.5256G>A (p.Val1752=) c.8484G>A (p.Val2828=) | |
| 8 | g.99835206G>C | CA462340560 | VPS13B | c.9699G>C (p.Val3233=) n.9769G>C c.*5381G>C (n.*5381G>C) c.9624G>C (p.Val3208=) c.9696G>C (p.Val3232=) c.9621G>C (p.Val3207=) c.9321G>C (p.Val3107=) c.6585G>C (p.Val2195=) c.5478G>C (p.Val1826=) c.9504G>C (p.Val3168=) c.5256G>C (p.Val1752=) c.8484G>C (p.Val2828=) | |
| 8 | g.99835206G>T | CA462340561 | VPS13B | c.9699G>T (p.Val3233=) n.9769G>T c.*5381G>T (n.*5381G>T) c.9624G>T (p.Val3208=) c.9696G>T (p.Val3232=) c.9621G>T (p.Val3207=) c.9321G>T (p.Val3107=) c.6585G>T (p.Val2195=) c.5478G>T (p.Val1826=) c.9504G>T (p.Val3168=) c.5256G>T (p.Val1752=) c.8484G>T (p.Val2828=) | |
| 8 | g.99835207C>A | CA371782381 | VPS13B | c.9700C>A (p.Leu3234Met) n.9770C>A c.*5382C>A (n.*5382C>A) c.9625C>A (p.Leu3209Met) c.9697C>A (p.Leu3233Met) c.9622C>A (p.Leu3208Met) c.9322C>A (p.Leu3108Met) c.6586C>A (p.Leu2196Met) c.5479C>A (p.Leu1827Met) c.9505C>A (p.Leu3169Met) c.5257C>A (p.Leu1753Met) c.8485C>A (p.Leu2829Met) | |
| 8 | g.99835207C>G | CA371782383 | VPS13B | c.9700C>G (p.Leu3234Val) n.9770C>G c.*5382C>G (n.*5382C>G) c.9625C>G (p.Leu3209Val) c.9697C>G (p.Leu3233Val) c.9622C>G (p.Leu3208Val) c.9322C>G (p.Leu3108Val) c.6586C>G (p.Leu2196Val) c.5479C>G (p.Leu1827Val) c.9505C>G (p.Leu3169Val) c.5257C>G (p.Leu1753Val) c.8485C>G (p.Leu2829Val) | gnomAD v4 |
| 8 | g.99835207C>T | CA462340562 | VPS13B | c.9700C>T (p.Leu3234=) n.9770C>T c.*5382C>T (n.*5382C>T) c.9625C>T (p.Leu3209=) c.9697C>T (p.Leu3233=) c.9622C>T (p.Leu3208=) c.9322C>T (p.Leu3108=) c.6586C>T (p.Leu2196=) c.5479C>T (p.Leu1827=) c.9505C>T (p.Leu3169=) c.5257C>T (p.Leu1753=) c.8485C>T (p.Leu2829=) | |
| 8 | g.99835208T>A | CA371782385 | VPS13B | c.9701T>A (p.Leu3234Gln) n.9771T>A c.*5383T>A (n.*5383T>A) c.9626T>A (p.Leu3209Gln) c.9698T>A (p.Leu3233Gln) c.9623T>A (p.Leu3208Gln) c.9323T>A (p.Leu3108Gln) c.6587T>A (p.Leu2196Gln) c.5480T>A (p.Leu1827Gln) c.9506T>A (p.Leu3169Gln) c.5258T>A (p.Leu1753Gln) c.8486T>A (p.Leu2829Gln) | |
| 8 | g.99835208T>C | CA371782386 | VPS13B | c.9701T>C (p.Leu3234Pro) n.9771T>C c.*5383T>C (n.*5383T>C) c.9626T>C (p.Leu3209Pro) c.9698T>C (p.Leu3233Pro) c.9623T>C (p.Leu3208Pro) c.9323T>C (p.Leu3108Pro) c.6587T>C (p.Leu2196Pro) c.5480T>C (p.Leu1827Pro) c.9506T>C (p.Leu3169Pro) c.5258T>C (p.Leu1753Pro) c.8486T>C (p.Leu2829Pro) | |
| 8 | g.99835208T>G | CA371782388 | VPS13B | c.9701T>G (p.Leu3234Arg) n.9771T>G c.*5383T>G (n.*5383T>G) c.9626T>G (p.Leu3209Arg) c.9698T>G (p.Leu3233Arg) c.9623T>G (p.Leu3208Arg) c.9323T>G (p.Leu3108Arg) c.6587T>G (p.Leu2196Arg) c.5480T>G (p.Leu1827Arg) c.9506T>G (p.Leu3169Arg) c.5258T>G (p.Leu1753Arg) c.8486T>G (p.Leu2829Arg) | |
| 8 | g.99835208_99835209dup | CA2688070755 | VPS13B | c.9701_9702dup (p.Thr3235Ter) n.9771_9772dup c.*5383_*5384dup (n.*5383_*5384dup) c.9626_9627dup (p.Thr3210Ter) c.9698_9699dup (p.Thr3234Ter) c.9623_9624dup (p.Thr3209Ter) c.9323_9324dup (p.Thr3109Ter) c.6587_6588dup (p.Thr2197Ter) c.5480_5481dup (p.Thr1828Ter) c.9506_9507dup (p.Thr3170Ter) c.5258_5259dup (p.Thr1754Ter) c.8486_8487dup (p.Thr2830Ter) | gnomAD v4 |
| 8 | g.99835209G>A | CA462340566 | VPS13B | c.9702G>A (p.Leu3234=) n.9772G>A c.*5384G>A (n.*5384G>A) c.9627G>A (p.Leu3209=) c.9699G>A (p.Leu3233=) c.9624G>A (p.Leu3208=) c.9324G>A (p.Leu3108=) c.6588G>A (p.Leu2196=) c.5481G>A (p.Leu1827=) c.9507G>A (p.Leu3169=) c.5259G>A (p.Leu1753=) c.8487G>A (p.Leu2829=) | ClinVar gnomAD v4 |
| 8 | g.99835209G>C | CA462340567 | VPS13B | c.9702G>C (p.Leu3234=) n.9772G>C c.*5384G>C (n.*5384G>C) c.9627G>C (p.Leu3209=) c.9699G>C (p.Leu3233=) c.9624G>C (p.Leu3208=) c.9324G>C (p.Leu3108=) c.6588G>C (p.Leu2196=) c.5481G>C (p.Leu1827=) c.9507G>C (p.Leu3169=) c.5259G>C (p.Leu1753=) c.8487G>C (p.Leu2829=) | COSMIC COSMIC |
| 8 | g.99835209G>T | CA462340564 | VPS13B | c.9702G>T (p.Leu3234=) n.9772G>T c.*5384G>T (n.*5384G>T) c.9627G>T (p.Leu3209=) c.9699G>T (p.Leu3233=) c.9624G>T (p.Leu3208=) c.9324G>T (p.Leu3108=) c.6588G>T (p.Leu2196=) c.5481G>T (p.Leu1827=) c.9507G>T (p.Leu3169=) c.5259G>T (p.Leu1753=) c.8487G>T (p.Leu2829=) | |
| 8 | g.99835210A>C | CA371782389 | VPS13B | c.9703A>C (p.Thr3235Pro) n.9773A>C c.*5385A>C (n.*5385A>C) c.9628A>C (p.Thr3210Pro) c.9700A>C (p.Thr3234Pro) c.9625A>C (p.Thr3209Pro) c.9325A>C (p.Thr3109Pro) c.6589A>C (p.Thr2197Pro) c.5482A>C (p.Thr1828Pro) c.9508A>C (p.Thr3170Pro) c.5260A>C (p.Thr1754Pro) c.8488A>C (p.Thr2830Pro) | |
| 8 | g.99835210A>G | CA371782391 | VPS13B | c.9703A>G (p.Thr3235Ala) n.9773A>G c.*5385A>G (n.*5385A>G) c.9628A>G (p.Thr3210Ala) c.9700A>G (p.Thr3234Ala) c.9625A>G (p.Thr3209Ala) c.9325A>G (p.Thr3109Ala) c.6589A>G (p.Thr2197Ala) c.5482A>G (p.Thr1828Ala) c.9508A>G (p.Thr3170Ala) c.5260A>G (p.Thr1754Ala) c.8488A>G (p.Thr2830Ala) | dbSNP |
| 8 | g.99835210A>T | CA371782393 | VPS13B | c.9703A>T (p.Thr3235Ser) n.9773A>T c.*5385A>T (n.*5385A>T) c.9628A>T (p.Thr3210Ser) c.9700A>T (p.Thr3234Ser) c.9625A>T (p.Thr3209Ser) c.9325A>T (p.Thr3109Ser) c.6589A>T (p.Thr2197Ser) c.5482A>T (p.Thr1828Ser) c.9508A>T (p.Thr3170Ser) c.5260A>T (p.Thr1754Ser) c.8488A>T (p.Thr2830Ser) | dbSNP |
| 8 | g.99835211C>A | CA371782402 | VPS13B | c.9704C>A (p.Thr3235Lys) n.9774C>A c.*5386C>A (n.*5386C>A) c.9629C>A (p.Thr3210Lys) c.9701C>A (p.Thr3234Lys) c.9626C>A (p.Thr3209Lys) c.9326C>A (p.Thr3109Lys) c.6590C>A (p.Thr2197Lys) c.5483C>A (p.Thr1828Lys) c.9509C>A (p.Thr3170Lys) c.5261C>A (p.Thr1754Lys) c.8489C>A (p.Thr2830Lys) | |
| 8 | g.99835211C>G | CA371782400 | VPS13B | c.9704C>G (p.Thr3235Arg) n.9774C>G c.*5386C>G (n.*5386C>G) c.9629C>G (p.Thr3210Arg) c.9701C>G (p.Thr3234Arg) c.9626C>G (p.Thr3209Arg) c.9326C>G (p.Thr3109Arg) c.6590C>G (p.Thr2197Arg) c.5483C>G (p.Thr1828Arg) c.9509C>G (p.Thr3170Arg) c.5261C>G (p.Thr1754Arg) c.8489C>G (p.Thr2830Arg) | gnomAD v4 |
| 8 | g.99835211C>T | CA371782395 | VPS13B | c.9704C>T (p.Thr3235Ile) n.9774C>T c.*5386C>T (n.*5386C>T) c.9629C>T (p.Thr3210Ile) c.9701C>T (p.Thr3234Ile) c.9626C>T (p.Thr3209Ile) c.9326C>T (p.Thr3109Ile) c.6590C>T (p.Thr2197Ile) c.5483C>T (p.Thr1828Ile) c.9509C>T (p.Thr3170Ile) c.5261C>T (p.Thr1754Ile) c.8489C>T (p.Thr2830Ile) | |
| 8 | g.99835212A>C | CA462340569 | VPS13B | c.9705A>C (p.Thr3235=) n.9775A>C c.*5387A>C (n.*5387A>C) c.9630A>C (p.Thr3210=) c.9702A>C (p.Thr3234=) c.9627A>C (p.Thr3209=) c.9327A>C (p.Thr3109=) c.6591A>C (p.Thr2197=) c.5484A>C (p.Thr1828=) c.9510A>C (p.Thr3170=) c.5262A>C (p.Thr1754=) c.8490A>C (p.Thr2830=) | ClinVar |
| 8 | g.99835212A>G | CA462340570 | VPS13B | c.9705A>G (p.Thr3235=) n.9775A>G c.*5387A>G (n.*5387A>G) c.9630A>G (p.Thr3210=) c.9702A>G (p.Thr3234=) c.9627A>G (p.Thr3209=) c.9327A>G (p.Thr3109=) c.6591A>G (p.Thr2197=) c.5484A>G (p.Thr1828=) c.9510A>G (p.Thr3170=) c.5262A>G (p.Thr1754=) c.8490A>G (p.Thr2830=) | ClinVar gnomAD v4 |
| 8 | g.99835212A>T | CA462340571 | VPS13B | c.9705A>T (p.Thr3235=) n.9775A>T c.*5387A>T (n.*5387A>T) c.9630A>T (p.Thr3210=) c.9702A>T (p.Thr3234=) c.9627A>T (p.Thr3209=) c.9327A>T (p.Thr3109=) c.6591A>T (p.Thr2197=) c.5484A>T (p.Thr1828=) c.9510A>T (p.Thr3170=) c.5262A>T (p.Thr1754=) c.8490A>T (p.Thr2830=) | gnomAD v4 |
| 8 | g.99835213del | CA264154 | VPS13B | c.9706del (p.Tyr3236IlefsTer7) n.9776del c.*5388del (n.*5388del) c.9631del (p.Tyr3211IlefsTer7) c.9703del (p.Tyr3235IlefsTer7) c.9628del (p.Tyr3210IlefsTer7) c.9328del (p.Tyr3110IlefsTer7) c.6592del (p.Tyr2198IlefsTer7) c.5485del (p.Tyr1829IlefsTer7) c.9511del (p.Tyr3171IlefsTer7) c.5263del (p.Tyr1755IlefsTer7) c.8491del (p.Tyr2831IlefsTer7) | ClinVar dbSNP |
| 8 | g.99835213T>A | CA371782403 | VPS13B | c.9706T>A (p.Tyr3236Asn) n.9776T>A c.*5388T>A (n.*5388T>A) c.9631T>A (p.Tyr3211Asn) c.9703T>A (p.Tyr3235Asn) c.9628T>A (p.Tyr3210Asn) c.9328T>A (p.Tyr3110Asn) c.6592T>A (p.Tyr2198Asn) c.5485T>A (p.Tyr1829Asn) c.9511T>A (p.Tyr3171Asn) c.5263T>A (p.Tyr1755Asn) c.8491T>A (p.Tyr2831Asn) | |
| 8 | g.99835213T>C | CA371782404 | VPS13B | c.9706T>C (p.Tyr3236His) n.9776T>C c.*5388T>C (n.*5388T>C) c.9631T>C (p.Tyr3211His) c.9703T>C (p.Tyr3235His) c.9628T>C (p.Tyr3210His) c.9328T>C (p.Tyr3110His) c.6592T>C (p.Tyr2198His) c.5485T>C (p.Tyr1829His) c.9511T>C (p.Tyr3171His) c.5263T>C (p.Tyr1755His) c.8491T>C (p.Tyr2831His) | |
| 8 | g.99835213T>G | CA371782405 | VPS13B | c.9706T>G (p.Tyr3236Asp) n.9776T>G c.*5388T>G (n.*5388T>G) c.9631T>G (p.Tyr3211Asp) c.9703T>G (p.Tyr3235Asp) c.9628T>G (p.Tyr3210Asp) c.9328T>G (p.Tyr3110Asp) c.6592T>G (p.Tyr2198Asp) c.5485T>G (p.Tyr1829Asp) c.9511T>G (p.Tyr3171Asp) c.5263T>G (p.Tyr1755Asp) c.8491T>G (p.Tyr2831Asp) | |
| 8 | g.99835214A>C | CA371782406 | VPS13B | c.9707A>C (p.Tyr3236Ser) n.9777A>C c.*5389A>C (n.*5389A>C) c.9632A>C (p.Tyr3211Ser) c.9704A>C (p.Tyr3235Ser) c.9629A>C (p.Tyr3210Ser) c.9329A>C (p.Tyr3110Ser) c.6593A>C (p.Tyr2198Ser) c.5486A>C (p.Tyr1829Ser) c.9512A>C (p.Tyr3171Ser) c.5264A>C (p.Tyr1755Ser) c.8492A>C (p.Tyr2831Ser) | |
| 8 | g.99835214A>G | CA371782407 | VPS13B | c.9707A>G (p.Tyr3236Cys) n.9777A>G c.*5389A>G (n.*5389A>G) c.9632A>G (p.Tyr3211Cys) c.9704A>G (p.Tyr3235Cys) c.9629A>G (p.Tyr3210Cys) c.9329A>G (p.Tyr3110Cys) c.6593A>G (p.Tyr2198Cys) c.5486A>G (p.Tyr1829Cys) c.9512A>G (p.Tyr3171Cys) c.5264A>G (p.Tyr1755Cys) c.8492A>G (p.Tyr2831Cys) | |
| 8 | g.99835214A>T | CA371782409 | VPS13B | c.9707A>T (p.Tyr3236Phe) n.9777A>T c.*5389A>T (n.*5389A>T) c.9632A>T (p.Tyr3211Phe) c.9704A>T (p.Tyr3235Phe) c.9629A>T (p.Tyr3210Phe) c.9329A>T (p.Tyr3110Phe) c.6593A>T (p.Tyr2198Phe) c.5486A>T (p.Tyr1829Phe) c.9512A>T (p.Tyr3171Phe) c.5264A>T (p.Tyr1755Phe) c.8492A>T (p.Tyr2831Phe) | |
| 8 | g.99835215T>A | CA371782415 | VPS13B | c.9708T>A (p.Tyr3236Ter) n.9778T>A c.*5390T>A (n.*5390T>A) c.9633T>A (p.Tyr3211Ter) c.9705T>A (p.Tyr3235Ter) c.9630T>A (p.Tyr3210Ter) c.9330T>A (p.Tyr3110Ter) c.6594T>A (p.Tyr2198Ter) c.5487T>A (p.Tyr1829Ter) c.9513T>A (p.Tyr3171Ter) c.5265T>A (p.Tyr1755Ter) c.8493T>A (p.Tyr2831Ter) | |
| 8 | g.99835215T>C | CA182339303 | VPS13B | c.9708T>C (p.Tyr3236=) n.9778T>C c.*5390T>C (n.*5390T>C) c.9633T>C (p.Tyr3211=) c.9705T>C (p.Tyr3235=) c.9630T>C (p.Tyr3210=) c.9330T>C (p.Tyr3110=) c.6594T>C (p.Tyr2198=) c.5487T>C (p.Tyr1829=) c.9513T>C (p.Tyr3171=) c.5265T>C (p.Tyr1755=) c.8493T>C (p.Tyr2831=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99835215T>G | CA371782413 | VPS13B | c.9708T>G (p.Tyr3236Ter) n.9778T>G c.*5390T>G (n.*5390T>G) c.9633T>G (p.Tyr3211Ter) c.9705T>G (p.Tyr3235Ter) c.9630T>G (p.Tyr3210Ter) c.9330T>G (p.Tyr3110Ter) c.6594T>G (p.Tyr2198Ter) c.5487T>G (p.Tyr1829Ter) c.9513T>G (p.Tyr3171Ter) c.5265T>G (p.Tyr1755Ter) c.8493T>G (p.Tyr2831Ter) | |
| 8 | g.99835216C>A | CA371782417 | VPS13B | c.9709C>A (p.Gln3237Lys) n.9779C>A c.*5391C>A (n.*5391C>A) c.9634C>A (p.Gln3212Lys) c.9706C>A (p.Gln3236Lys) c.9631C>A (p.Gln3211Lys) c.9331C>A (p.Gln3111Lys) c.6595C>A (p.Gln2199Lys) c.5488C>A (p.Gln1830Lys) c.9514C>A (p.Gln3172Lys) c.5266C>A (p.Gln1756Lys) c.8494C>A (p.Gln2832Lys) | |
| 8 | g.99835216C>G | CA371782418 | VPS13B | c.9709C>G (p.Gln3237Glu) n.9779C>G c.*5391C>G (n.*5391C>G) c.9634C>G (p.Gln3212Glu) c.9706C>G (p.Gln3236Glu) c.9631C>G (p.Gln3211Glu) c.9331C>G (p.Gln3111Glu) c.6595C>G (p.Gln2199Glu) c.5488C>G (p.Gln1830Glu) c.9514C>G (p.Gln3172Glu) c.5266C>G (p.Gln1756Glu) c.8494C>G (p.Gln2832Glu) |