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.10142025_10142134del | CA645524667 | VHL | c.178_287del (p.Arg60AlafsTer?) | COSMIC |
3 | g.10142056_10142090del | CA645524699 | VHL | c.209_243del (p.Glu70AlafsTer?) | COSMIC |
3 | g.10142062_10142106del | CA645524709 | VHL | c.215_259del (p.Ser72_Val87delinsLeu) | COSMIC |
3 | g.10142068_10142092del | CA645524716 | VHL | c.221_245del (p.Val74AlafsTer?) | COSMIC |
3 | g.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del | |
3 | g.10142074_10142168del | CA645524728 | VHL | c.227_321del (p.Phe76SerfsTer?) c.227_321del (p.Phe76SerfsTer24) c.227_321del (p.Phe76SerfsTer25) | COSMIC |
3 | g.10142078_10142091del | CA645524739 | VHL | c.231_244del (p.Cys77TrpfsTer?) | COSMIC |
3 | g.10142080_10142090del | CA645524742 | VHL | c.233_243del (p.Asn78ThrfsTer?) | COSMIC |
3 | g.10142083_10142088del | CA645524744 | VHL | c.236_241del (p.Arg79_Ser80del) | COSMIC |
3 | g.10142081_10142090delinsTCGCAGTCCG | CA1345065888 | VHL | c.234_243delinsTCGCAGTCCG (p.Asn78=) | |
3 | g.10142085_10142093del | CA916081410 | VHL | c.238_246del (p.Ser80_Arg82del) | ClinVar dbSNP |
3 | g.10142085_10142103del | CA645524747 | VHL | c.238_256del (p.Ser80ProfsTer?) | COSMIC |
3 | g.10142084_10142107delinsCAGTCCGCGCGTCGTGCTGCCCGT | CA1345065904 | VHL | c.237_260delinsCAGTCCGCGCGTCGTGCTGCCCGT (p.Arg79=) | |
3 | g.10142086_10142108del | CA913189503 | VHL | c.239_261del (p.Ser80MetfsTer?) | ClinVar dbSNP |
3 | g.10142086_10142088del | CA645524753 | VHL | c.239_241del (p.Ser80_Pro81delinsThr) | COSMIC |
3 | g.10142086_10142092del | CA913189246 | VHL | c.239_245del (p.Ser80ThrfsTer?) | |
3 | g.10142087T>A | CA351750519 | VHL | c.240T>A (p.Ser80Arg) | dbSNP COSMIC |
3 | g.10142087T>C | CA432420444 | VHL | c.240T>C (p.Ser80=) | ClinVar dbSNP |
3 | g.10142087T>G | CA351750515 | VHL | c.240T>G (p.Ser80Arg) | dbSNP COSMIC |
3 | g.10142087T= | CA1345065928 | VHL | c.240T= (p.Ser80=) | |
3 | g.10142088C>A | CA351750522 | VHL | c.241C>A (p.Pro81Thr) | gnomAD v4 COSMIC |
3 | g.10142088C= | CA1345065933 | VHL | c.241C= (p.Pro81=) | |
3 | g.10142088C>G | CA351750524 | VHL | c.241C>G (p.Pro81Ala) | ClinVar dbSNP |
3 | g.10142088C>T | CA020148 | VHL | c.241C>T (p.Pro81Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142089del | CA432420447 | VHL | c.242del (p.Pro81ArgfsTer?) | COSMIC |
3 | g.10142088_10142091dup | CA2499216350 | VHL | c.241_244dup (p.Arg82ProfsTer?) | ClinVar dbSNP |
3 | g.10142089_10142093del | CA645524754 | VHL | c.242_246del (p.Pro81ArgfsTer?) | COSMIC |
3 | g.10142091_10142106dup | CA2499216351 | VHL | c.244_259dup (p.Val87AlafsTer?) | ClinVar dbSNP |
3 | g.10142089C>A | CA351750529 | VHL | c.242C>A (p.Pro81Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142089C= | CA1345065940 | VHL | c.242C= (p.Pro81=) | |
3 | g.10142089C>G | CA351750531 | VHL | c.242C>G (p.Pro81Arg) | |
3 | g.10142089C>T | CA020154 | VHL | c.242C>T (p.Pro81Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142093_10142094del | CA645524757 | VHL | c.246_247del (p.Val83ArgfsTer?) | COSMIC |
3 | g.10142091_10142094del | CA645524756 | VHL | c.244_247del (p.Arg82SerfsTer?) | COSMIC |