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.10142007_10142021del | CA645524635 | VHL | c.160_174del (p.Met54_Arg58del) | COSMIC |
3 | g.10142007_10142019del | CA645524637 | VHL | c.160_172del (p.Met54GlyfsTer9) | COSMIC |
3 | g.10142007_10142022del | CA645524636 | VHL | c.160_175del (p.Met54ArgfsTer8) | COSMIC |
3 | g.10142011_10142018dup | CA10602889 | VHL | c.164_171dup (p.Arg60GlyfsTer10) | ClinVar dbSNP |
3 | g.10142010_10142039del | CA645524640 | VHL | c.163_192del (p.Glu55_Arg64del) | COSMIC |
3 | g.10142015_10142019del | CA645524643 | VHL | c.168_172del (p.Gly57AlafsTer?) | COSMIC |
3 | g.10142017_10142024del | CA645524644 | VHL | c.170_177del (p.Gly57AlafsTer?) | ClinVar COSMIC COSMIC |
3 | g.10142014_10142020del | CA645524646 | VHL | c.167_173del (p.Ala56GlyfsTer9) | 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_10142021del | CA645524653 | VHL | c.171_174del (p.Pro59GlyfsTer7) | 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.10142018del | CA432536368 | VHL | c.171del (p.Arg58GlyfsTer9) | COSMIC COSMIC |
3 | g.10142017_10142022dup | CA2664399908 | VHL | c.170_175dup (p.Arg58_Pro59insArgArg) | gnomAD v4 |
3 | g.10142018_10142024del | CA645524654 | VHL | c.171_177del (p.Arg58GlyfsTer7) | COSMIC |
3 | g.10142018G>A | CA432536369 | VHL | c.171G>A (p.Gly57=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142018G>C | CA432536370 | VHL | c.171G>C (p.Gly57=) | ClinVar dbSNP COSMIC |
3 | g.10142018G= | CA1345065483 | VHL | c.171G= (p.Gly57=) | |
3 | g.10142018G>T | CA039611 | VHL | c.171G>T (p.Gly57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142018delinsCCGGCCGGC | CA645524655 | VHL | c.171delinsCCGGCCGGC (p.Arg60AlafsTer10) | 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.10142019C>A | CA039628 | VHL | c.172C>A (p.Arg58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.10142019C= | CA1345065491 | VHL | c.172C= (p.Arg58=) | |
3 | g.10142019C>G | CA351748632 | VHL | c.172C>G (p.Arg58Gly) | dbSNP |
3 | g.10142019C>T | CA039640 | VHL | c.172C>T (p.Arg58Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142019_10142020delinsTA | CA645524656 | VHL | c.172_173delinsTA (p.Arg58Ter) | COSMIC |
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.10142020G>A | CA351748642 | VHL | c.173G>A (p.Arg58Gln) | ClinVar dbSNP gnomAD v4 |