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.10142045_10142068del | CA645524685 | VHL | c.198_221del (p.Asn67_Val74del) | COSMIC |
3 | g.10142045_10142061del | CA645524688 | VHL | c.198_214del (p.Asn67ProfsTer?) | COSMIC |
3 | g.10142044_10142068del | CA2573130203 | VHL | c.197_221del (p.Val66AlafsTer?) | |
3 | g.10142056_10142090del | CA645524699 | VHL | c.209_243del (p.Glu70AlafsTer?) | COSMIC |
3 | g.10142055_10142067del | CA645524701 | VHL | c.208_220del (p.Glu70SerfsTer?) | COSMIC |
3 | g.10142056_10142061del | CA645524702 | VHL | c.209_214del (p.Glu70_Ser72delinsAla) | 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.10142058_10142070del | CA645524704 | VHL | c.211_223del (p.Pro71SerfsTer?) | COSMIC |
3 | g.10142059_10142072del | CA645524705 | VHL | c.212_225del (p.Pro71LeufsTer?) | COSMIC |
3 | g.10142061_10142063del | CA2580068398 | VHL | c.214_216del (p.Ser72del) | ClinVar |
3 | g.10142060_10142079del | CA645524706 | VHL | c.213_232del (p.Val74SerfsTer?) | COSMIC |
3 | g.10142061del | CA658795180 | VHL | c.214del (p.Ser72ProfsTer?) | |
3 | g.10142061T>A | CA351749057 | VHL | c.214T>A (p.Ser72Thr) | |
3 | g.10142061T>C | CA357006 | VHL | c.214T>C (p.Ser72Pro) | ClinVar dbSNP COSMIC |
3 | g.10142061T>G | CA351749070 | VHL | c.214T>G (p.Ser72Ala) | |
3 | g.10142061T= | CA1345065726 | VHL | c.214T= (p.Ser72=) | |
3 | g.10142061dup | CA645524707 | VHL | c.214dup (p.Ser72PhefsTer?) | COSMIC |
3 | g.10142061_10142062insGCCC | CA2499307076 | VHL | c.214_215insGCCC (p.Ser72CysfsTer?) | |
3 | g.10142062C>A | CA351749076 | VHL | c.215C>A (p.Ser72Tyr) | gnomAD v4 |
3 | g.10142062C= | CA1345065734 | VHL | c.215C= (p.Ser72=) | |
3 | g.10142062C>G | CA351749077 | VHL | c.215C>G (p.Ser72Cys) | gnomAD v4 |
3 | g.10142062C>T | CA70042512 | VHL | c.215C>T (p.Ser72Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142064dup | CA2497030271 | VHL | c.217dup (p.Gln73ProfsTer?) | |
3 | g.10142063_10142064dup | CA645524708 | VHL | c.216_217dup (p.Gln73ProfsTer?) | COSMIC COSMIC |
3 | g.10142064del | CA432536422 | VHL | c.217del (p.Gln73ArgfsTer?) | COSMIC COSMIC |
3 | g.10142063_10142064del | CA645524710 | VHL | c.216_217del (p.Gln73GlyfsTer?) | COSMIC |
3 | g.10142062_10142106del | CA645524709 | VHL | c.215_259del (p.Ser72_Val87delinsLeu) | COSMIC |
3 | g.10142062_10142063insT | CA432536425 | VHL | c.215_216insT (p.Gln73ProfsTer?) | |
3 | g.10142063C>A | CA432536423 | VHL | c.216C>A (p.Ser72=) | ClinVar dbSNP COSMIC |
3 | g.10142063C= | CA1345065740 | VHL | c.216C= (p.Ser72=) | |
3 | g.10142063C>G | CA432536424 | VHL | c.216C>G (p.Ser72=) |