Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.10135142_10142466del | CA2499216338 | ClinVar | ||
3 | g.10135142_10143568del | CA2499216339 | ClinVar | ||
3 | g.10137026_10145481del | CA2499216340 | ClinVar | ||
3 | g.10137102_10143357del | CA2499216341 | ClinVar | ||
3 | g.10139220_10148953del | CA2499216342 | ClinVar | ||
3 | g.10139708_10142406del | CA2499216343 | ClinVar | ||
3 | g.10139761_10142459del | CA2499216344 | ClinVar | ||
3 | g.10140648_10148414del | CA2499216345 | ClinVar | ||
3 | g.10140738_10142535del | CA2499216346 | ClinVar | ||
3 | g.10141523_10142610del | CA2499216347 | VHL | c.-325_340+423del | ClinVar |
3 | g.10141635_10149787del | CA2581463472 | VHL | c.-213_464del c.-213_341del c.-213_*18del | |
3 | g.10141847_10149786del | CA1139532106 | VHL | c.-1_*141-1del c.-1_575-1del c.-1_464-1del c.-1_341-1del c.-1_*18-1del | |
3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
3 | g.10141848_10142187del | CA2581463474 | VHL | c.1_340del (p.Met1SerfsTer3) c.1_340del (p.Met1ValfsTer?) c.1_340del (p.Met1CysfsTer4) | |
3 | g.10141848_10146636del | CA2581463475 | VHL | c.1_*140del c.1_600-3151del c.1_463del c.1_341-3151del c.1_*18-3151del | |
3 | g.10141936_10142144del | CA2573050894 | VHL | c.89_297del (p.Gly30AspfsTer?) | |
3 | g.10142002_10142043del | CA645524632 | VHL | c.155_196del (p.Glu52_Ser65del) | COSMIC |
3 | g.10142010_10142039del | CA645524640 | VHL | c.163_192del (p.Glu55_Arg64del) | COSMIC |
3 | g.10142017_10142024del | CA645524644 | VHL | c.170_177del (p.Gly57AlafsTer?) | COSMIC COSMIC |
3 | g.10142014_10142026del | CA645524647 | VHL | c.167_179del (p.Ala56GlyfsTer7) | COSMIC |
3 | g.10142014_10142052del | CA645524649 | VHL | c.167_205del (p.Ala56_Arg69delinsGly) | COSMIC |
3 | g.10142018_10142027del | CA645524652 | VHL | c.171_180del (p.Arg58ProfsTer6) | COSMIC |
3 | g.10142015_10142031del | CA645524650 | VHL | c.168_184del (p.Gly57AlafsTer?) | COSMIC |
3 | g.10142016_10142034del | CA645524651 | VHL | c.169_187del (p.Gly57CysfsTer4) | COSMIC |
3 | g.10142018_10142024del | CA645524654 | VHL | c.171_177del (p.Arg58GlyfsTer7) | COSMIC |
3 | g.10142024_10142029dup | CA1044994897 | VHL | c.177_182dup (p.Pro61_Val62insArgPro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142024_10142029del | CA2701984727 | VHL | c.177_182del (p.Arg60_Pro61del) | dbSNP |
3 | g.10142021_10142038del | CA2573320481 | VHL | c.174_191del (p.Pro59_Arg64del) | |
3 | g.10142021_10142024del | CA645524658 | VHL | c.174_177del (p.Pro59GlyfsTer7) | COSMIC |
3 | g.10142020_10142029del | CA645524657 | VHL | c.173_182del (p.Arg58ProfsTer6) | COSMIC |
3 | g.10142021_10142027del | CA645524659 | VHL | c.174_180del (p.Arg60CysfsTer5) | COSMIC |
3 | g.10142023del | CA432536374 | VHL | c.176del (p.Pro59ArgfsTer8) | COSMIC |
3 | g.10142022_10142024delinsTC | CA645524662 | VHL | c.175_177delinsTC (p.Pro59SerfsTer8) | COSMIC |
3 | g.10142022_10142030del | CA645524661 | VHL | c.175_183del (p.Pro59_Pro61del) | COSMIC |
3 | g.10142025_10142031del | CA645524660 | VHL | c.178_184del (p.Arg60CysfsTer5) | COSMIC |
3 | g.10142022_10142036delinsCCGCGGCCCGTGCTG | CA1345065505 | VHL | c.175_189delinsCCGCGGCCCGTGCTG (p.Pro59=) | |
3 | g.10142023C>A | CA351748654 | VHL | c.176C>A (p.Pro59Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10142023C= | CA1345065513 | VHL | c.176C= (p.Pro59=) | |
3 | g.10142023C>G | CA351748658 | VHL | c.176C>G (p.Pro59Arg) | dbSNP |
3 | g.10142023C>T | CA351748662 | VHL | c.176C>T (p.Pro59Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.10142025_10142026del | CA645524663 | VHL | c.178_179del (p.Arg60AlafsTer?) | COSMIC |
3 | g.10142026_10142039del | CA16617784 | VHL | c.179_192del (p.Arg60LeufsTer?) | ClinVar dbSNP |
3 | g.10142027_10142055del | CA645524664 | VHL | c.180_208del (p.Pro61AlafsTer?) | COSMIC |
3 | g.10142024G>A | CA432536377 | VHL | c.177G>A (p.Pro59=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142024G>C | CA432536375 | VHL | c.177G>C (p.Pro59=) | dbSNP |
3 | g.10142024G>T | CA432536376 | VHL | c.177G>T (p.Pro59=) | gnomAD v4 |
3 | g.10142025C>A | CA432536378 | VHL | c.178C>A (p.Arg60=) | gnomAD v4 |
3 | g.10142025C= | CA1345065523 | VHL | c.178C= (p.Arg60=) | |
3 | g.10142025C>G | CA16611061 | VHL | c.178C>G (p.Arg60Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142025C>T | CA351748669 | VHL | c.178C>T (p.Arg60Trp) | ClinVar dbSNP COSMIC |