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.10142062_10142106del | CA645524709 | VHL | c.215_259del (p.Ser72_Val87delinsLeu) | 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.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.10142091_10142106dup | CA2499216351 | VHL | c.244_259dup (p.Val87AlafsTer?) | ClinVar dbSNP |
3 | g.10142097_10142103del | CA645524767 | VHL | c.250_256del (p.Val84ProfsTer?) | COSMIC |
3 | g.10142099_10142107del | CA645524763 | VHL | c.252_260del (p.Leu85_Val87del) | COSMIC |
3 | g.10142098_10142127del | CA645524764 | VHL | c.251_280del (p.Val84_Gly93del) | COSMIC |
3 | g.10142098_10142107del | CA645524769 | VHL | c.251_260del (p.Val84AspfsTer30) c.251_260del (p.Val84AspfsTer?) | COSMIC |
3 | g.10142098_10142116del | CA645524768 | VHL | c.251_269del (p.Val84AlafsTer27) c.251_269del (p.Val84AlafsTer?) c.251_269del (p.Val84AlafsTer28) | COSMIC |
3 | g.10142101_10142130del | CA2499306645 | VHL | c.254_283del (p.Leu85_Glu94del) | |
3 | g.10142100_10142107del | CA645524770 | VHL | c.253_260del (p.Leu85MetfsTer?) | COSMIC |
3 | g.10142102_10142103del | CA645524772 | VHL | c.255_256del (p.Pro86ArgfsTer?) | COSMIC |
3 | g.10142102_10142103delinsGC | CA1345066000 | VHL | c.255_256delinsGC (p.Leu85=) | |
3 | g.10142103_10142106del | CA645524771 | VHL | c.256_259del (p.Pro86TyrfsTer30) c.256_259del (p.Pro86TyrfsTer?) | COSMIC COSMIC |
3 | g.10142103C>A | CA351750624 | VHL | c.256C>A (p.Pro86Thr) | COSMIC |
3 | g.10142103C= | CA1345066015 | VHL | c.256C= (p.Pro86=) | |
3 | g.10142103C>G | CA020174 | VHL | c.256C>G (p.Pro86Ala) | ClinVar dbSNP COSMIC |
3 | g.10142103C>T | CA020180 | VHL | c.256C>T (p.Pro86Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142105dup | CA16602181 | VHL | c.258dup (p.Val87ArgfsTer?) | ClinVar dbSNP |
3 | g.10142105del | CA348305 | VHL | c.258del (p.Val87TyrfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.10142104_10142114del | CA645524773 | VHL | c.257_267del (p.Pro86GlnfsTer?) | COSMIC |
3 | g.10142104C>A | CA351750632 | VHL | c.257C>A (p.Pro86His) | dbSNP COSMIC |
3 | g.10142104C= | CA1345066027 | VHL | c.257C= (p.Pro86=) | |
3 | g.10142104C>G | CA357142 | VHL | c.257C>G (p.Pro86Arg) | ClinVar dbSNP COSMIC |
3 | g.10142104C>T | CA020186 | VHL | c.257C>T (p.Pro86Leu) | ClinVar dbSNP COSMIC |
3 | g.10142105C>A | CA432420479 | VHL | c.258C>A (p.Pro86=) | dbSNP |
3 | g.10142105C= | CA1345066033 | VHL | c.258C= (p.Pro86=) | |
3 | g.10142105C>G | CA040037 | VHL | c.258C>G (p.Pro86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142105C>T | CA040059 | VHL | c.258C>T (p.Pro86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142105_10142106del | CA645524774 | VHL | c.258_259del (p.Val87MetfsTer?) | COSMIC |