| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10141847_10149786del | CA1139532106 | VHL | c.-1_464-1del c.-1_341-1del c.-1_*18-1del | |
| 3 | g.10141935_10141979del | CA541213519 | VHL | c.88_132del (p.Gly30_Gly44del) | dbSNP gnomAD |
| 3 | g.10141959_10142003dup | CA915941834 | VHL | c.112_156dup (p.Glu52_Glu53insSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGlu) | ClinVar dbSNP |
| 3 | g.10141970_10141984dup | CA541213522 | VHL | c.123_137dup (p.Glu46_Glu47insGluSerGlyProGlu) | ClinVar dbSNP gnomAD |
| 3 | g.10141970_10141984del | CA039321 | VHL | c.123_137del (p.Glu42_Glu46del) | ClinVar dbSNP ExAC gnomAD |
| 3 | g.10141973del | CA16602177 | VHL | c.126del (p.Glu42AspfsTer25) | |
| 3 | g.10141973G>A | CA432536341 | VHL | c.126G>A (p.Glu42=) | |
| 3 | g.10141973G>C | CA351747990 | VHL | c.126G>C (p.Glu42Asp) | |
| 3 | g.10141973G>T | CA351747994 | VHL | c.126G>T (p.Glu42Asp) | |
| 3 | g.10141974T>A | CA351747998 | VHL | c.127T>A (p.Ser43Thr) | |
| 3 | g.10141974T>C | CA351748001 | VHL | c.127T>C (p.Ser43Pro) | |
| 3 | g.10141974T>G | CA351748006 | VHL | c.127T>G (p.Ser43Ala) | |
| 3 | g.10141975C>A | CA70042349 | VHL | c.128C>A (p.Ser43Tyr) | dbSNP |
| 3 | g.10141975C>G | CA351748024 | VHL | c.128C>G (p.Ser43Cys) | |
| 3 | g.10141975C>T | CA351748026 | VHL | c.128C>T (p.Ser43Phe) | COSMIC |
| 3 | g.10141976C>A | CA432536342 | VHL | c.129C>A (p.Ser43=) | |
| 3 | g.10141976C>G | CA432536343 | VHL | c.129C>G (p.Ser43=) | |
| 3 | g.10141976C>T | CA350263 | VHL | c.129C>T (p.Ser43=) | ClinVar dbSNP gnomAD COSMIC |
| 3 | g.10141977G>A | CA351748044 | VHL | c.130G>A (p.Gly44Ser) | ClinVar |
| 3 | g.10141977G>C | CA351748058 | VHL | c.130G>C (p.Gly44Arg) | |
| 3 | g.10141977G>T | CA351748054 | VHL | c.130G>T (p.Gly44Cys) | |
| 3 | g.10141978del | CA16602178 | VHL | c.131del (p.Gly44AlafsTer23) | |
| 3 | g.10141978G>A | CA70042374 | VHL | c.131G>A (p.Gly44Asp) | dbSNP COSMIC |
| 3 | g.10141978G>C | CA351748061 | VHL | c.131G>C (p.Gly44Ala) | |
| 3 | g.10141978G>T | CA351748065 | VHL | c.131G>T (p.Gly44Val) | |
| 3 | g.10141979C>A | CA432536344 | VHL | c.132C>A (p.Gly44=) | |
| 3 | g.10141979C>G | CA432536346 | VHL | c.132C>G (p.Gly44=) | |
| 3 | g.10141979C>T | CA432536345 | VHL | c.132C>T (p.Gly44=) | |
| 3 | g.10141980C>A | CA351748068 | VHL | c.133C>A (p.Pro45Thr) | |
| 3 | g.10141980C>G | CA351748071 | VHL | c.133C>G (p.Pro45Ala) | ClinVar |
| 3 | g.10141980C>T | CA351748076 | VHL | c.133C>T (p.Pro45Ser) | COSMIC |
| 3 | g.10141981C>A | CA351748077 | VHL | c.134C>A (p.Pro45Gln) | |
| 3 | g.10141981C>G | CA039433 | VHL | c.134C>G (p.Pro45Arg) | ClinVar dbSNP ExAC gnomAD |
| 3 | g.10141981C>T | CA70042375 | VHL | c.134C>T (p.Pro45Leu) | ClinVar dbSNP gnomAD COSMIC |
| 3 | g.10141982G>A | CA039449 | VHL | c.135G>A (p.Pro45=) | ClinVar dbSNP ExAC gnomAD COSMIC |
| 3 | g.10141982G>C | CA432536347 | VHL | c.135G>C (p.Pro45=) | |
| 3 | g.10141982G>T | CA432536348 | VHL | c.135G>T (p.Pro45=) | |
| 3 | g.10141983G>A | CA351748088 | VHL | c.136G>A (p.Glu46Lys) | ClinVar |
| 3 | g.10141983G>C | CA351748093 | VHL | c.136G>C (p.Glu46Gln) | |
| 3 | g.10141983G>T | CA351748085 | VHL | c.136G>T (p.Glu46Ter) | |
| 3 | g.10141985_10142007del | CA896158519 | VHL | c.138_160del (p.Glu46AspfsTer?) | dbSNP |
| 3 | g.10141984A>C | CA351748098 | VHL | c.137A>C (p.Glu46Ala) | |
| 3 | g.10141984A>G | CA351748110 | VHL | c.137A>G (p.Glu46Gly) | |
| 3 | g.10141984A>T | CA351748113 | VHL | c.137A>T (p.Glu46Val) | |
| 3 | g.10141985G>A | CA432536349 | VHL | c.138G>A (p.Glu46=) | |
| 3 | g.10141985G>C | CA351748124 | VHL | c.138G>C (p.Glu46Asp) | |
| 3 | g.10141985G>T | CA351748127 | VHL | c.138G>T (p.Glu46Asp) | |
| 3 | g.10141986G>A | CA351748134 | VHL | c.139G>A (p.Glu47Lys) | ClinVar gnomAD |
| 3 | g.10141986G>C | CA351748138 | VHL | c.139G>C (p.Glu47Gln) | |
| 3 | g.10141986G>T | CA351748143 | VHL | c.139G>T (p.Glu47Ter) |