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 |
|---|---|---|---|---|---|
| 3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
| 3 | g.10143181_10152298del | CA2499216371 | VHL | c.340+994_*2333del c.*17+160_*2529del | ClinVar |
| 3 | g.10145108_10153342del | CA2499216377 | VHL | c.341-1406_*3377del c.*17+2087_*3573del c.340+2921_*3377del | ClinVar |
| 3 | g.10145132_10153366del | CA2499216378 | VHL | c.341-1382_*3401del c.*17+2111_*3597del c.340+2945_*3401del | ClinVar |
| 3 | g.10145585_10153156del | CA2499216380 | VHL | c.341-929_*3191del c.*17+2564_*3387del c.340+3398_*3191del | ClinVar |
| 3 | g.10146465_10152780del | CA2499216382 | VHL | c.341-49_*2815del c.*18-3322_*3011del c.341-3322_*2815del | ClinVar |
| 3 | g.10146514_10149967del | CA1139532108 | VHL | c.*18_*321del c.600-3273_780del c.341_*2del c.341-3273_*2del n.477_780del c.*18-3273_*198del | |
| 3 | g.10147075_10150956del | CA2499216384 | VHL | c.*140+439_*1310del c.600-2712_1769del c.463+439_*991del c.341-2712_*991del c.*18-2712_*1187del | ClinVar |
| 3 | g.10147644_10152768del | CA2499216385 | VHL | c.463+1008_*2803del c.*18-2143_*2999del c.341-2143_*2803del | ClinVar |
| 3 | g.10148440_10158273del | CA2499216386 | ClinVar | ||
| 3 | g.10148566_10158401del | CA2499216387 | ClinVar | ||
| 3 | g.10148561_10152736del | CA2499216388 | VHL | c.464-143_*2771del c.464-1226_*2771del c.*18-1226_*2967del c.341-1226_*2771del | ClinVar |
| 3 | g.10148615_10158450del | CA2499216389 | ClinVar | ||
| 3 | g.10149787_10149965del | CA2580612129 | VHL | c.*141_*319del (n.*141_*319del) c.600_778del (n.600_778del) c.575_753del (p.Val192GlufsTer?) c.464_642del (p.Val155GlufsTer?) c.341_519del (p.Val114GlufsTer?) n.600_778del c.*18_*196del (n.*18_*196del) | |
| 3 | g.10149908_10149929dup | CA913190160 | VHL | c.*262_*283dup (n.*262_*283dup) c.721_742dup (n.721_742dup) c.696_717dup (p.Gln240GlufsTer?) c.585_606dup (p.Gln203GlufsTer?) c.462_483dup (p.Gln162GlufsTer?) n.721_742dup c.*139_*160dup (n.*139_*160dup) | ClinVar dbSNP |
| 3 | g.10149915_10149930del | CA645529576 | VHL | c.*269_*284del (n.*269_*284del) c.728_743del (n.728_743del) c.703_718del (p.Leu235ArgfsTer16) c.592_607del (p.Leu198ArgfsTer16) c.469_484del (p.Leu157ArgfsTer16) n.728_743del c.*146_*161del (n.*146_*161del) | ClinVar COSMIC |
| 3 | g.10149927_10149931del | CA645529583 | VHL | c.*281_*285del (n.*281_*285del) c.740_744del (n.740_744del) c.715_719del (p.Thr239GlyfsTer?) c.604_608del (p.Thr202GlyfsTer?) c.481_485del (p.Thr161GlyfsTer?) n.740_744del c.*158_*162del (n.*158_*162del) | COSMIC |
| 3 | g.10149930_10149931del | CA645529582 | VHL | c.*284_*285del (n.*284_*285del) c.743_744del (n.743_744del) c.718_719del (p.Gln240GlyfsTer?) c.607_608del (p.Gln203GlyfsTer?) c.484_485del (p.Gln162GlyfsTer?) n.743_744del c.*161_*162del (n.*161_*162del) | ClinVar COSMIC COSMIC |
| 3 | g.10149930_10149946del | CA2740090906 | VHL | c.*284_*300del (n.*284_*300del) c.743_759del (n.743_759del) c.718_734del (p.Gln240SerfsTer?) c.607_623del (p.Gln203SerfsTer?) c.484_500del (p.Gln162SerfsTer?) n.743_759del c.*161_*177del (n.*161_*177del) | ClinVar |
| 3 | g.10149928C>A | CA351756604 | VHL | c.*282C>A (n.*282C>A) c.741C>A (n.741C>A) c.716C>A (p.Thr239Lys) c.605C>A (p.Thr202Lys) c.482C>A (p.Thr161Lys) n.741C>A c.*159C>A (n.*159C>A) | |
| 3 | g.10149928C= | CA1345062967 | VHL | c.*282C= (n.*282C=) c.741C= (n.741C=) c.716C= (p.Thr239=) c.605C= (p.Thr202=) c.482C= (p.Thr161=) n.741C= c.*159C= (n.*159C=) | |
| 3 | g.10149928C>G | CA351756606 | VHL | c.*282C>G (n.*282C>G) c.741C>G (n.741C>G) c.716C>G (p.Thr239Arg) c.605C>G (p.Thr202Arg) c.482C>G (p.Thr161Arg) n.741C>G c.*159C>G (n.*159C>G) | dbSNP |
| 3 | g.10149928C>T | CA041863 | VHL | c.*282C>T (n.*282C>T) c.741C>T (n.741C>T) c.716C>T (p.Thr239Ile) c.605C>T (p.Thr202Ile) c.482C>T (p.Thr161Ile) n.741C>T c.*159C>T (n.*159C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10149929A= | CA1345062983 | VHL | c.*283A= (n.*283A=) c.742A= (n.742A=) c.717A= (p.Thr239=) c.606A= (p.Thr202=) c.483A= (p.Thr161=) n.742A= c.*160A= (n.*160A=) | |
| 3 | g.10149929A>C | CA432423876 | VHL | c.*283A>C (n.*283A>C) c.742A>C (n.742A>C) c.717A>C (p.Thr239=) c.606A>C (p.Thr202=) c.483A>C (p.Thr161=) n.742A>C c.*160A>C (n.*160A>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149929A>G | CA432423878 | VHL | c.*283A>G (n.*283A>G) c.742A>G (n.742A>G) c.717A>G (p.Thr239=) c.606A>G (p.Thr202=) c.483A>G (p.Thr161=) n.742A>G c.*160A>G (n.*160A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149929A>T | CA432423880 | VHL | c.*283A>T (n.*283A>T) c.742A>T (n.742A>T) c.717A>T (p.Thr239=) c.606A>T (p.Thr202=) c.483A>T (p.Thr161=) n.742A>T c.*160A>T (n.*160A>T) | |
| 3 | g.10149929dup | CA1139655766 | VHL | c.*283dup (n.*283dup) c.742dup (n.742dup) c.717dup (p.Gln240ThrfsTer?) c.606dup (p.Gln203ThrfsTer?) c.483dup (p.Gln162ThrfsTer?) n.742dup c.*160dup (n.*160dup) | ClinVar dbSNP |
| 3 | g.10149929_10149930insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG | CA2664400080 | VHL | c.*283_*284insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (n.*283_*284insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG) c.742_743insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (n.742_743insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG) c.717_718insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (p.Gln240SerfsTer10) c.606_607insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (p.Gln203SerfsTer10) c.483_484insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (p.Gln162SerfsTer10) n.742_743insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG c.*160_*161insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG (n.*160_*161insTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTG) | gnomAD v4 |
| 3 | g.10149930del | CA432423884 | VHL | c.*284del (n.*284del) c.743del (n.743del) c.718del (p.Gln240ArgfsTer16) c.607del (p.Gln203ArgfsTer16) c.484del (p.Gln162ArgfsTer16) n.743del c.*161del (n.*161del) | COSMIC |
| 3 | g.10149930C>A | CA351756610 | VHL | c.*284C>A (n.*284C>A) c.743C>A (n.743C>A) c.718C>A (p.Gln240Lys) c.607C>A (p.Gln203Lys) c.484C>A (p.Gln162Lys) n.743C>A c.*161C>A (n.*161C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149930C= | CA1345062987 | VHL | c.*284C= (n.*284C=) c.743C= (n.743C=) c.718C= (p.Gln240=) c.607C= (p.Gln203=) c.484C= (p.Gln162=) n.743C= c.*161C= (n.*161C=) | |
| 3 | g.10149930C>G | CA351756612 | VHL | c.*284C>G (n.*284C>G) c.743C>G (n.743C>G) c.718C>G (p.Gln240Glu) c.607C>G (p.Gln203Glu) c.484C>G (p.Gln162Glu) n.743C>G c.*161C>G (n.*161C>G) | dbSNP |
| 3 | g.10149930C>T | CA041878 | VHL | c.*284C>T (n.*284C>T) c.743C>T (n.743C>T) c.718C>T (p.Gln240Ter) c.607C>T (p.Gln203Ter) c.484C>T (p.Gln162Ter) n.743C>T c.*161C>T (n.*161C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10149932_10149939del | CA645529585 | VHL | c.*286_*293del (n.*286_*293del) c.745_752del (n.745_752del) c.720_727del (p.Gln240HisfsTer?) c.609_616del (p.Gln203HisfsTer?) c.486_493del (p.Gln162HisfsTer?) n.745_752del c.*163_*170del (n.*163_*170del) | COSMIC |
| 3 | g.10149931A= | CA1345062993 | VHL | c.*285A= (n.*285A=) c.744A= (n.744A=) c.719A= (p.Gln240=) c.608A= (p.Gln203=) c.485A= (p.Gln162=) n.744A= c.*162A= (n.*162A=) | |
| 3 | g.10149931A>C | CA351756622 | VHL | c.*285A>C (n.*285A>C) c.744A>C (n.744A>C) c.719A>C (p.Gln240Pro) c.608A>C (p.Gln203Pro) c.485A>C (p.Gln162Pro) n.744A>C c.*162A>C (n.*162A>C) | |
| 3 | g.10149931A>G | CA351756617 | VHL | c.*285A>G (n.*285A>G) c.744A>G (n.744A>G) c.719A>G (p.Gln240Arg) c.608A>G (p.Gln203Arg) c.485A>G (p.Gln162Arg) n.744A>G c.*162A>G (n.*162A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149931A>T | CA351756619 | VHL | c.*285A>T (n.*285A>T) c.744A>T (n.744A>T) c.719A>T (p.Gln240Leu) c.608A>T (p.Gln203Leu) c.485A>T (p.Gln162Leu) n.744A>T c.*162A>T (n.*162A>T) | dbSNP |
| 3 | g.10149932G>A | CA432423893 | VHL | c.*286G>A (n.*286G>A) c.745G>A (n.745G>A) c.720G>A (p.Gln240=) c.609G>A (p.Gln203=) c.486G>A (p.Gln162=) n.745G>A c.*163G>A (n.*163G>A) | ClinVar dbSNP |
| 3 | g.10149932G>C | CA351756626 | VHL | c.*286G>C (n.*286G>C) c.745G>C (n.745G>C) c.720G>C (p.Gln240His) c.609G>C (p.Gln203His) c.486G>C (p.Gln162His) n.745G>C c.*163G>C (n.*163G>C) | dbSNP |
| 3 | g.10149932G>T | CA351756627 | VHL | c.*286G>T (n.*286G>T) c.745G>T (n.745G>T) c.720G>T (p.Gln240His) c.609G>T (p.Gln203His) c.486G>T (p.Gln162His) n.745G>T c.*163G>T (n.*163G>T) | dbSNP |
| 3 | g.10149933del | CA2664400081 | VHL | c.*287del (n.*287del) c.746del (n.746del) c.721del (p.Glu241SerfsTer15) c.610del (p.Glu204SerfsTer15) c.487del (p.Glu163SerfsTer15) n.746del c.*164del (n.*164del) | gnomAD v4 |
| 3 | g.10149933G>A | CA351756630 | VHL | c.*287G>A (n.*287G>A) c.746G>A (n.746G>A) c.721G>A (p.Glu241Lys) c.610G>A (p.Glu204Lys) c.487G>A (p.Glu163Lys) n.746G>A c.*164G>A (n.*164G>A) | dbSNP COSMIC |
| 3 | g.10149933G>C | CA041897 | VHL | c.*287G>C (n.*287G>C) c.746G>C (n.746G>C) c.721G>C (p.Glu241Gln) c.610G>C (p.Glu204Gln) c.487G>C (p.Glu163Gln) n.746G>C c.*164G>C (n.*164G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10149933G= | CA1345062998 | VHL | c.*287G= (n.*287G=) c.746G= (n.746G=) c.721G= (p.Glu241=) c.610G= (p.Glu204=) c.487G= (p.Glu163=) n.746G= c.*164G= (n.*164G=) | |
| 3 | g.10149933G>T | CA041909 | VHL | c.*287G>T (n.*287G>T) c.746G>T (n.746G>T) c.721G>T (p.Glu241Ter) c.610G>T (p.Glu204Ter) c.487G>T (p.Glu163Ter) n.746G>T c.*164G>T (n.*164G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10149934A>C | CA351756637 | VHL | c.*288A>C (n.*288A>C) c.747A>C (n.747A>C) c.722A>C (p.Glu241Ala) c.611A>C (p.Glu204Ala) c.488A>C (p.Glu163Ala) n.747A>C c.*165A>C (n.*165A>C) | |
| 3 | g.10149934A>G | CA351756641 | VHL | c.*288A>G (n.*288A>G) c.747A>G (n.747A>G) c.722A>G (p.Glu241Gly) c.611A>G (p.Glu204Gly) c.488A>G (p.Glu163Gly) n.747A>G c.*165A>G (n.*165A>G) | dbSNP |
| 3 | g.10149934A>T | CA351756639 | VHL | c.*288A>T (n.*288A>T) c.747A>T (n.747A>T) c.722A>T (p.Glu241Val) c.611A>T (p.Glu204Val) c.488A>T (p.Glu163Val) n.747A>T c.*165A>T (n.*165A>T) | dbSNP |