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.10141892_10141951del | CA2664399904 | VHL | c.45_104del (p.Glu16_Ala35del) | gnomAD v4 |
3 | g.10141915_10141959del | CA2516254345 | VHL | c.68_112del (p.Tyr23_Glu37del) | |
3 | g.10141922_10141966del | CA2740090896 | VHL | c.75_119del (p.Glu26_Pro40del) | ClinVar |
3 | g.10141922_10141981del | CA2664399905 | VHL | c.75_134del (p.Glu26_Pro45del) | gnomAD v4 |
3 | g.10141918G>A | CA10582111 | VHL | c.71G>A (p.Gly24Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141918G>C | CA351747422 | VHL | c.71G>C (p.Gly24Ala) | dbSNP |
3 | g.10141918G= | CA1345065086 | VHL | c.71G= (p.Gly24=) | |
3 | g.10141918G>T | CA351747418 | VHL | c.71G>T (p.Gly24Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10141919C>A | CA432536217 | VHL | c.72C>A (p.Gly24=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141919C= | CA1345065097 | VHL | c.72C= (p.Gly24=) | |
3 | g.10141919C>G | CA432536218 | VHL | c.72C>G (p.Gly24=) | |
3 | g.10141919C>T | CA432536219 | VHL | c.72C>T (p.Gly24=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141920C>A | CA351747427 | VHL | c.73C>A (p.Pro25Thr) | |
3 | g.10141920C= | CA1345065101 | VHL | c.73C= (p.Pro25=) | |
3 | g.10141920C>G | CA042053 | VHL | c.73C>G (p.Pro25Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141920C>T | CA351747431 | VHL | c.73C>T (p.Pro25Ser) | dbSNP gnomAD v4 COSMIC |
3 | g.10141921C>A | CA351747436 | VHL | c.74C>A (p.Pro25His) | dbSNP gnomAD v4 |
3 | g.10141921C= | CA1345065107 | VHL | c.74C= (p.Pro25=) | |
3 | g.10141921C>G | CA351747439 | VHL | c.74C>G (p.Pro25Arg) | dbSNP gnomAD v4 |
3 | g.10141921C>T | CA020538 | VHL | c.74C>T (p.Pro25Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141922T>A | CA432536221 | VHL | c.75T>A (p.Pro25=) | |
3 | g.10141922T>C | CA432536222 | VHL | c.75T>C (p.Pro25=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141922T>G | CA432536223 | VHL | c.75T>G (p.Pro25=) | |
3 | g.10141922T= | CA1345065111 | VHL | c.75T= (p.Pro25=) | |
3 | g.10141923G>A | CA351747440 | VHL | c.76G>A (p.Glu26Lys) | ClinVar dbSNP COSMIC |
3 | g.10141923G>C | CA351747441 | VHL | c.76G>C (p.Glu26Gln) | ClinVar |
3 | g.10141923G= | CA1345065120 | VHL | c.76G= (p.Glu26=) | |
3 | g.10141923G>T | CA351747444 | VHL | c.76G>T (p.Glu26Ter) | |
3 | g.10141924A>C | CA351747449 | VHL | c.77A>C (p.Glu26Ala) | gnomAD v4 |
3 | g.10141924A>G | CA351747453 | VHL | c.77A>G (p.Glu26Gly) | ClinVar dbSNP COSMIC |
3 | g.10141924A>T | CA351747457 | VHL | c.77A>T (p.Glu26Val) | dbSNP |
3 | g.10141925A>C | CA351747463 | VHL | c.78A>C (p.Glu26Asp) | |
3 | g.10141925A>G | CA432536224 | VHL | c.78A>G (p.Glu26=) | dbSNP |
3 | g.10141925A>T | CA351747460 | VHL | c.78A>T (p.Glu26Asp) | |
3 | g.10141926G>A | CA351747466 | VHL | c.79G>A (p.Glu27Lys) | dbSNP |