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.10141910A= | CA1345065055 | VHL | c.63A= (p.Glu21=) | |
3 | g.10141910A>C | CA351747357 | VHL | c.63A>C (p.Glu21Asp) | |
3 | g.10141910A>G | CA432536209 | VHL | c.63A>G (p.Glu21=) | ClinVar dbSNP |
3 | g.10141910A>T | CA351747358 | VHL | c.63A>T (p.Glu21Asp) | |
3 | g.10141911G>A | CA351747372 | VHL | c.64G>A (p.Glu22Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141911G>C | CA351747361 | VHL | c.64G>C (p.Glu22Gln) | |
3 | g.10141911G= | CA1345065057 | VHL | c.64G= (p.Glu22=) | |
3 | g.10141911G>T | CA351747367 | VHL | c.64G>T (p.Glu22Ter) | |
3 | g.10141915_10141959del | CA2516254345 | VHL | c.68_112del (p.Tyr23_Glu37del) | |
3 | g.10141912A>C | CA351747377 | VHL | c.65A>C (p.Glu22Ala) | |
3 | g.10141912A>G | CA351747380 | VHL | c.65A>G (p.Glu22Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10141912A>T | CA351747381 | VHL | c.65A>T (p.Glu22Val) | ClinVar |
3 | g.10141913G>A | CA16604336 | VHL | c.66G>A (p.Glu22=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141913G>C | CA70042233 | VHL | c.66G>C (p.Glu22Asp) | dbSNP |
3 | g.10141913G= | CA1345065062 | VHL | c.66G= (p.Glu22=) | |
3 | g.10141913G>T | CA351747383 | VHL | c.66G>T (p.Glu22Asp) | gnomAD v4 |
3 | g.10141914T>A | CA351747386 | VHL | c.67T>A (p.Tyr23Asn) | ClinVar dbSNP |
3 | g.10141914T>C | CA351747387 | VHL | c.67T>C (p.Tyr23His) | ClinVar dbSNP gnomAD v4 |
3 | g.10141914T>G | CA351747388 | VHL | c.67T>G (p.Tyr23Asp) | ClinVar dbSNP |
3 | g.10141914T= | CA1345065064 | VHL | c.67T= (p.Tyr23=) | |
3 | g.10141915A>C | CA351747390 | VHL | c.68A>C (p.Tyr23Ser) | dbSNP |
3 | g.10141915A>G | CA351747392 | VHL | c.68A>G (p.Tyr23Cys) | ClinVar dbSNP |
3 | g.10141915A>T | CA351747394 | VHL | c.68A>T (p.Tyr23Phe) | |
3 | g.10141916C>A | CA351747398 | VHL | c.69C>A (p.Tyr23Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141916C= | CA1345065069 | VHL | c.69C= (p.Tyr23=) | |
3 | g.10141916C>G | CA351747403 | VHL | c.69C>G (p.Tyr23Ter) | dbSNP |
3 | g.10141916C>T | CA432536214 | VHL | c.69C>T (p.Tyr23=) | ClinVar dbSNP gnomAD v4 |
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.10141917G>A | CA351747411 | VHL | c.70G>A (p.Gly24Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.10141917G>C | CA351747414 | VHL | c.70G>C (p.Gly24Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.10141917G= | CA1345065080 | VHL | c.70G= (p.Gly24=) | |
3 | g.10141917G>T | CA351747408 | VHL | c.70G>T (p.Gly24Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141918G>A | CA10582111 | VHL | c.71G>A (p.Gly24Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |