| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10141922_10141981del | CA2664399905 | VHL | c.75_134del (p.Glu26_Pro45del) | gnomAD v4 |
| 3 | g.10141922_10142030dup | CA3060570556 | VHL | c.75_183dup (p.Val62Ter) | ClinVar |
| 3 | g.10141930_10141975delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC | CA1345065141 | VHL | c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC (p.Asp28=) | |
| 3 | g.10141935_10141979del | CA541213519 | VHL | c.88_132del (p.Gly30_Gly44del) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10141945_10141990delinsCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT | CA1345065203 | VHL | c.98_143delinsCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT (p.Ser33=) | |
| 3 | g.10141959_10142003dup | CA915941834 | VHL | c.112_156dup (p.Glu52_Glu53insSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGlu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141959_10142003del | CA1139655723 | VHL | c.112_156del (p.Ser38_Glu52del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141970_10141984dup | CA541213522 | VHL | c.123_137dup (p.Glu46_Glu47insGluSerGlyProGlu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10141970_10141984del | CA039321 | VHL | c.123_137del (p.Glu42_Glu46del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10141960_10142004del | CA2664399907 | VHL | c.113_157del (p.Ser38Ter) | gnomAD v4 |
| 3 | g.10141970_10141973del | CA2573136081 | VHL | c.123_126del (p.Glu41AspfsTer25) | ClinVar dbSNP |
| 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) | ClinVar gnomAD v4 |
| 3 | g.10141973G= | CA3057222425 | VHL | c.126G= (p.Glu42=) | |
| 3 | g.10141973G>T | CA351747994 | VHL | c.126G>T (p.Glu42Asp) | |
| 3 | g.10141974T>A | CA351747998 | VHL | c.127T>A (p.Ser43Thr) | dbSNP gnomAD v4 |
| 3 | g.10141974T>C | CA351748001 | VHL | c.127T>C (p.Ser43Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141974T>G | CA351748006 | VHL | c.127T>G (p.Ser43Ala) | dbSNP |
| 3 | g.10141974T= | CA1345065301 | VHL | c.127T= (p.Ser43=) | |
| 3 | g.10141975C>A | CA70042349 | VHL | c.128C>A (p.Ser43Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141975C= | CA1345065302 | VHL | c.128C= (p.Ser43=) | |
| 3 | g.10141975C>G | CA351748024 | VHL | c.128C>G (p.Ser43Cys) | ClinVar dbSNP |
| 3 | g.10141975C>T | CA351748026 | VHL | c.128C>T (p.Ser43Phe) | dbSNP COSMIC |
| 3 | g.10141976C>A | CA432536342 | VHL | c.129C>A (p.Ser43=) | gnomAD v4 |
| 3 | g.10141976C= | CA1345065304 | VHL | c.129C= (p.Ser43=) | |
| 3 | g.10141976C>G | CA432536343 | VHL | c.129C>G (p.Ser43=) | ClinVar dbSNP |
| 3 | g.10141976C>T | CA350263 | VHL | c.129C>T (p.Ser43=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10141977G>A | CA351748044 | VHL | c.130G>A (p.Gly44Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141977G>C | CA351748058 | VHL | c.130G>C (p.Gly44Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141977G= | CA1345065308 | VHL | c.130G= (p.Gly44=) | |
| 3 | g.10141977G>T | CA351748054 | VHL | c.130G>T (p.Gly44Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141978del | CA16602178 | VHL | c.131del (p.Gly44AlafsTer23) | |
| 3 | g.10141978G>A | CA70042374 | VHL | c.131G>A (p.Gly44Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10141978G>C | CA351748061 | VHL | c.131G>C (p.Gly44Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141978G= | CA1345065311 | VHL | c.131G= (p.Gly44=) | |
| 3 | g.10141978G>T | CA351748065 | VHL | c.131G>T (p.Gly44Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141979C>A | CA432536344 | VHL | c.132C>A (p.Gly44=) | dbSNP gnomAD v4 |
| 3 | g.10141979C= | CA1345065314 | VHL | c.132C= (p.Gly44=) | |
| 3 | g.10141979C>G | CA432536346 | VHL | c.132C>G (p.Gly44=) | ClinVar dbSNP |
| 3 | g.10141979C>T | CA432536345 | VHL | c.132C>T (p.Gly44=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141980C>A | CA351748068 | VHL | c.133C>A (p.Pro45Thr) | dbSNP gnomAD v4 |
| 3 | g.10141980C= | CA1345065319 | VHL | c.133C= (p.Pro45=) | |
| 3 | g.10141980C>G | CA351748071 | VHL | c.133C>G (p.Pro45Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10141980C>T | CA351748076 | VHL | c.133C>T (p.Pro45Ser) | ClinVar COSMIC |
| 3 | g.10141981_10141982insAGTTCCTCCGGGCCGGACTCTTCCGGGCC | CA2573136082 | VHL | c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC (p.Glu46ValfsTer31) | ClinVar dbSNP |
| 3 | g.10141981C>A | CA351748077 | VHL | c.134C>A (p.Pro45Gln) | dbSNP gnomAD v4 |
| 3 | g.10141981C= | CA1345065324 | VHL | c.134C= (p.Pro45=) | |
| 3 | g.10141981C>G | CA039433 | VHL | c.134C>G (p.Pro45Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10141981C>T | CA70042375 | VHL | c.134C>T (p.Pro45Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |