| 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.10149920_10149927del | CA645529578 | VHL | c.*274_*281del (n.*274_*281del) c.733_740del (n.733_740del) c.708_715del (p.Glu236AspfsTer?) c.597_604del (p.Glu199AspfsTer?) c.474_481del (p.Glu158AspfsTer?) n.733_740del c.*151_*158del (n.*151_*158del) | COSMIC |
| 3 | g.10149921del | CA645529579 | VHL | c.*275del (n.*275del) c.734del (n.734del) c.709del (p.Arg237GlyfsTer2) c.598del (p.Arg200GlyfsTer2) c.475del (p.Arg159GlyfsTer2) n.734del c.*152del (n.*152del) | COSMIC |
| 3 | g.10149921C>A | CA432423844 | VHL | c.*275C>A (n.*275C>A) c.734C>A (n.734C>A) c.709C>A (p.Arg237=) c.598C>A (p.Arg200=) c.475C>A (p.Arg159=) n.734C>A c.*152C>A (n.*152C>A) | dbSNP |
| 3 | g.10149921C= | CA1345062941 | VHL | c.*275C= (n.*275C=) c.734C= (n.734C=) c.709C= (p.Arg237=) c.598C= (p.Arg200=) c.475C= (p.Arg159=) n.734C= c.*152C= (n.*152C=) | |
| 3 | g.10149921C>G | CA351756569 | VHL | c.*275C>G (n.*275C>G) c.734C>G (n.734C>G) c.709C>G (p.Arg237Gly) c.598C>G (p.Arg200Gly) c.475C>G (p.Arg159Gly) n.734C>G c.*152C>G (n.*152C>G) | dbSNP |
| 3 | g.10149921C>T | CA020510 | VHL | c.*275C>T (n.*275C>T) c.734C>T (n.734C>T) c.709C>T (p.Arg237Trp) c.598C>T (p.Arg200Trp) c.475C>T (p.Arg159Trp) n.734C>T c.*152C>T (n.*152C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10149922G>A | CA041791 | VHL | c.*276G>A (n.*276G>A) c.735G>A (n.735G>A) c.710G>A (p.Arg237Gln) c.599G>A (p.Arg200Gln) c.476G>A (p.Arg159Gln) n.735G>A c.*153G>A (n.*153G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149922G>C | CA351756574 | VHL | c.*276G>C (n.*276G>C) c.735G>C (n.735G>C) c.710G>C (p.Arg237Pro) c.599G>C (p.Arg200Pro) c.476G>C (p.Arg159Pro) n.735G>C c.*153G>C (n.*153G>C) | dbSNP |
| 3 | g.10149922G= | CA1345062955 | VHL | c.*276G= (n.*276G=) c.735G= (n.735G=) c.710G= (p.Arg237=) c.599G= (p.Arg200=) c.476G= (p.Arg159=) n.735G= c.*153G= (n.*153G=) | |
| 3 | g.10149922G>T | CA041814 | VHL | c.*276G>T (n.*276G>T) c.735G>T (n.735G>T) c.710G>T (p.Arg237Leu) c.599G>T (p.Arg200Leu) c.476G>T (p.Arg159Leu) n.735G>T c.*153G>T (n.*153G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10149923G>A | CA432423852 | VHL | c.*277G>A (n.*277G>A) c.736G>A (n.736G>A) c.711G>A (p.Arg237=) c.600G>A (p.Arg200=) c.477G>A (p.Arg159=) n.736G>A c.*154G>A (n.*154G>A) | dbSNP |
| 3 | g.10149923G>C | CA432423849 | VHL | c.*277G>C (n.*277G>C) c.736G>C (n.736G>C) c.711G>C (p.Arg237=) c.600G>C (p.Arg200=) c.477G>C (p.Arg159=) n.736G>C c.*154G>C (n.*154G>C) | dbSNP |
| 3 | g.10149923G>T | CA432423850 | VHL | c.*277G>T (n.*277G>T) c.736G>T (n.736G>T) c.711G>T (p.Arg237=) c.600G>T (p.Arg200=) c.477G>T (p.Arg159=) n.736G>T c.*154G>T (n.*154G>T) | dbSNP |
| 3 | g.10149924C>A | CA351756583 | VHL | c.*278C>A (n.*278C>A) c.737C>A (n.737C>A) c.712C>A (p.Leu238Met) c.601C>A (p.Leu201Met) c.478C>A (p.Leu160Met) n.737C>A c.*155C>A (n.*155C>A) | dbSNP |
| 3 | g.10149924C= | CA1345062959 | VHL | c.*278C= (n.*278C=) c.737C= (n.737C=) c.712C= (p.Leu238=) c.601C= (p.Leu201=) c.478C= (p.Leu160=) n.737C= c.*155C= (n.*155C=) | |
| 3 | g.10149924C>G | CA351756579 | VHL | c.*278C>G (n.*278C>G) c.737C>G (n.737C>G) c.712C>G (p.Leu238Val) c.601C>G (p.Leu201Val) c.478C>G (p.Leu160Val) n.737C>G c.*155C>G (n.*155C>G) | dbSNP |
| 3 | g.10149924C>T | CA020522 | VHL | c.*278C>T (n.*278C>T) c.737C>T (n.737C>T) c.712C>T (p.Leu238=) c.601C>T (p.Leu201=) c.478C>T (p.Leu160=) n.737C>T c.*155C>T (n.*155C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149925T>A | CA351756587 | VHL | c.*279T>A (n.*279T>A) c.738T>A (n.738T>A) c.713T>A (p.Leu238Gln) c.602T>A (p.Leu201Gln) c.479T>A (p.Leu160Gln) n.738T>A c.*156T>A (n.*156T>A) | dbSNP |
| 3 | g.10149925T>C | CA351756590 | VHL | c.*279T>C (n.*279T>C) c.738T>C (n.738T>C) c.713T>C (p.Leu238Pro) c.602T>C (p.Leu201Pro) c.479T>C (p.Leu160Pro) n.738T>C c.*156T>C (n.*156T>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149925T>G | CA351756592 | VHL | c.*279T>G (n.*279T>G) c.738T>G (n.738T>G) c.713T>G (p.Leu238Arg) c.602T>G (p.Leu201Arg) c.479T>G (p.Leu160Arg) n.738T>G c.*156T>G (n.*156T>G) | |
| 3 | g.10149925dup | CA645529581 | VHL | c.*279dup (n.*279dup) c.738dup (n.738dup) c.713dup (p.Thr239AspfsTer?) c.602dup (p.Thr202AspfsTer?) c.479dup (p.Thr161AspfsTer?) n.738dup c.*156dup (n.*156dup) | COSMIC |
| 3 | g.10149926G>A | CA432423862 | VHL | c.*280G>A (n.*280G>A) c.739G>A (n.739G>A) c.714G>A (p.Leu238=) c.603G>A (p.Leu201=) c.480G>A (p.Leu160=) n.739G>A c.*157G>A (n.*157G>A) | dbSNP |
| 3 | g.10149926G>C | CA432423864 | VHL | c.*280G>C (n.*280G>C) c.739G>C (n.739G>C) c.714G>C (p.Leu238=) c.603G>C (p.Leu201=) c.480G>C (p.Leu160=) n.739G>C c.*157G>C (n.*157G>C) | ClinVar dbSNP |
| 3 | g.10149926G= | CA1345062962 | VHL | c.*280G= (n.*280G=) c.739G= (n.739G=) c.714G= (p.Leu238=) c.603G= (p.Leu201=) c.480G= (p.Leu160=) n.739G= c.*157G= (n.*157G=) | |
| 3 | g.10149926G>T | CA432423866 | VHL | c.*280G>T (n.*280G>T) c.739G>T (n.739G>T) c.714G>T (p.Leu238=) c.603G>T (p.Leu201=) c.480G>T (p.Leu160=) n.739G>T c.*157G>T (n.*157G>T) | |
| 3 | g.10149926_10149927insT | CA432423869 | VHL | c.*280_*281insT (n.*280_*281insT) c.739_740insT (n.739_740insT) c.714_715insT (p.Thr239TyrfsTer?) c.603_604insT (p.Thr202TyrfsTer?) c.480_481insT (p.Thr161TyrfsTer?) n.739_740insT c.*157_*158insT (n.*157_*158insT) | |
| 3 | g.10149927A>C | CA351756595 | VHL | c.*281A>C (n.*281A>C) c.740A>C (n.740A>C) c.715A>C (p.Thr239Pro) c.604A>C (p.Thr202Pro) c.481A>C (p.Thr161Pro) n.740A>C c.*158A>C (n.*158A>C) | dbSNP |
| 3 | g.10149927A>G | CA351756598 | VHL | c.*281A>G (n.*281A>G) c.740A>G (n.740A>G) c.715A>G (p.Thr239Ala) c.604A>G (p.Thr202Ala) c.481A>G (p.Thr161Ala) n.740A>G c.*158A>G (n.*158A>G) | dbSNP |
| 3 | g.10149927A>T | CA351756601 | VHL | c.*281A>T (n.*281A>T) c.740A>T (n.740A>T) c.715A>T (p.Thr239Ser) c.604A>T (p.Thr202Ser) c.481A>T (p.Thr161Ser) n.740A>T c.*158A>T (n.*158A>T) | dbSNP |
| 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) | 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) | |
| 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=) |