| 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.10142028_10142078del | CA2573130331 | VHL | c.181_231del (p.Pro61_Cys77del) | |
| 3 | g.10142056_10142090del | CA645524699 | VHL | c.209_243del (p.Glu70AlafsTer?) | COSMIC |
| 3 | g.10142057_10142079del | CA2586965637 | VHL | c.210_232del (p.Pro71SerfsTer?) | |
| 3 | g.10142059_10142084dup | CA645524703 | VHL | c.212_237dup (p.Ser80ProfsTer?) | COSMIC |
| 3 | g.10142059_10142072del | CA645524705 | VHL | c.212_225del (p.Pro71LeufsTer?) | COSMIC |
| 3 | g.10142060_10142079del | CA645524706 | VHL | c.213_232del (p.Val74SerfsTer?) | COSMIC |
| 3 | g.10142062_10142106del | CA645524709 | VHL | c.215_259del (p.Ser72_Val87delinsLeu) | COSMIC |
| 3 | g.10142066_10142079del | CA2497423672 | VHL | c.219_232del (p.Val74SerfsTer?) | |
| 3 | g.10142067_10142086dup | CA645524712 | VHL | c.220_239dup (p.Ser80ArgfsTer?) | COSMIC |
| 3 | g.10142068_10142077del | CA645524715 | VHL | c.221_230del (p.Val74AlafsTer?) | COSMIC |
| 3 | g.10142068_10142092del | CA645524716 | VHL | c.221_245del (p.Val74AlafsTer?) | COSMIC |
| 3 | g.10142070_10142072del | CA020120 | VHL | c.223_225del (p.Ile75del) | ClinVar dbSNP |
| 3 | g.10142068_10142076del | CA645524718 | VHL | c.221_229del (p.Val74_Cys77delinsGly) | COSMIC |
| 3 | g.10142069_10142076del | CA645524717 | VHL | c.222_229del (p.Ile75GlnfsTer?) | COSMIC |
| 3 | g.10142069_10142072dup | CA1139768927 | VHL | c.222_225dup (p.Phe76HisfsTer?) | ClinVar |
| 3 | g.10142070_10142073delinsATCT | CA1345065801 | VHL | c.223_226delinsATCT (p.Ile75=) | |
| 3 | g.10142073_10142082del | CA645524721 | VHL | c.226_235del (p.Phe76AlafsTer?) | COSMIC |
| 3 | g.10142072_10142073del | CA645524722 | VHL | c.225_226del (p.Phe76LeufsTer?) | COSMIC |
| 3 | g.10142074_10142076dup | CA2586965640 | VHL | c.227_229dup (p.Phe76_Cys77insPhe) | |
| 3 | g.10142074_10142076del | CA357012 | VHL | c.227_229del (p.Phe76del) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.10142071_10142078dup | CA645524723 | VHL | c.224_231dup (p.Asn78SerfsTer?) | 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.10142072C>A | CA432536433 | VHL | c.225C>A (p.Ile75=) | dbSNP |
| 3 | g.10142072C= | CA1345065824 | VHL | c.225C= (p.Ile75=) | |
| 3 | g.10142072C>G | CA351749213 | VHL | c.225C>G (p.Ile75Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142072C>T | CA039864 | VHL | c.225C>T (p.Ile75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142072dup | CA645524726 | VHL | c.225dup (p.Phe76LeufsTer?) | COSMIC |
| 3 | g.10142072_10142074delinsCTT | CA1345065830 | VHL | c.225_227delinsCTT (p.Ile75=) | |
| 3 | g.10142072_10142075del | CA645524725 | VHL | c.225_228del (p.Phe76AlafsTer?) | COSMIC |
| 3 | g.10142073_10142078del | CA2573130179 | VHL | c.226_231del (p.Phe76_Cys77del) | |
| 3 | g.10142072_10142082delinsT | CA645524724 | VHL | c.225_235delinsT (p.Phe76AlafsTer?) | COSMIC |
| 3 | g.10142073T>A | CA351749221 | VHL | c.226T>A (p.Phe76Ile) | ClinVar dbSNP |
| 3 | g.10142073T>C | CA351749223 | VHL | c.226T>C (p.Phe76Leu) | ClinVar |