Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.10133799_10141895del | CA16043394 | ClinVar | ||
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.10141833_10141851delinsCGGCCCGGGTGGTCTGGTCTCCG | CA2573052052 | VHL | c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG | ClinVar dbSNP |
3 | g.10141837_10141857dup | CA2580068376 | VHL | c.-11_10dup (p.Arg3_Arg4insIleAlaGluGlyMetProArg) | ClinVar gnomAD v4 |
3 | g.10141836_10141849dup | CA10602864 | VHL | c.-12_2dup (p.Met1IlefsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141839_10141852dup | CA020491 | VHL | c.-9_5dup (p.Ala5GlufsTer14) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141848_10141864del | CA645524623 | VHL | c.1_17del (p.Met1GlufsTer20) | COSMIC |
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.10141847_10141867del | CA645524624 | VHL | c.-1_20del | COSMIC |
3 | g.10141847_10141867dup | CA896157844 | VHL | c.-1_20dup (p.Glu6_Asn7insLysMetProArgArgAlaGlu) | dbSNP |
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.10141849T>A | CA351747011 | VHL | c.2T>A (p.Met1Lys) | ClinVar dbSNP |
3 | g.10141849T>C | CA351747012 | VHL | c.2T>C (p.Met1Thr) | dbSNP |
3 | g.10141849T>G | CA351747013 | VHL | c.2T>G (p.Met1Arg) | dbSNP |
3 | g.10141850G>A | CA020331 | VHL | c.3G>A (p.Met1Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141850G>C | CA70042122 | VHL | c.3G>C (p.Met1Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.10141850G= | CA1345064732 | VHL | c.3G= (p.Met1=) | |
3 | g.10141850G>T | CA040825 | VHL | c.3G>T (p.Met1Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141850_10141851delinsGC | CA1345064738 | VHL | c.3_4delinsGC (p.Met1=) | |
3 | g.10141850_10141851insGTCTCC | CA2573136083 | VHL | c.3_4insGTCTCC (p.Met1_Pro2insValSer) | dbSNP |
3 | g.10141851C>A | CA351747014 | VHL | c.4C>A (p.Pro2Thr) | ClinVar gnomAD v4 |
3 | g.10141851C= | CA1345064743 | VHL | c.4C= (p.Pro2=) | |
3 | g.10141851C>G | CA351747015 | VHL | c.4C>G (p.Pro2Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141851C>T | CA70042126 | VHL | c.4C>T (p.Pro2Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141854del | CA915941832 | VHL | c.7del (p.Arg3GlyfsTer11) | ClinVar dbSNP gnomAD v4 |
3 | g.10141852C>A | CA351747016 | VHL | c.5C>A (p.Pro2His) | ClinVar |
3 | g.10141852C= | CA1345064752 | VHL | c.5C= (p.Pro2=) | |
3 | g.10141852C>G | CA16611054 | VHL | c.5C>G (p.Pro2Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141852C>T | CA020518 | VHL | c.5C>T (p.Pro2Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141853C>A | CA432536117 | VHL | c.6C>A (p.Pro2=) | dbSNP gnomAD v4 |
3 | g.10141853C= | CA1345064753 | VHL | c.6C= (p.Pro2=) | |
3 | g.10141853C>G | CA432536118 | VHL | c.6C>G (p.Pro2=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141853C>T | CA70042136 | VHL | c.6C>T (p.Pro2=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141854C>A | CA432536123 | VHL | c.7C>A (p.Arg3=) | gnomAD v4 |
3 | g.10141854C= | CA1345064758 | VHL | c.7C= (p.Arg3=) | |
3 | g.10141854C>G | CA351747017 | VHL | c.7C>G (p.Arg3Gly) | ClinVar dbSNP |
3 | g.10141854C>T | CA10582110 | VHL | c.7C>T (p.Arg3Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141856_10141857insGCGG | CA541213517 | VHL | c.9_10insGCGG (p.Arg4AlafsTer24) | ClinVar dbSNP gnomAD v2 gnomAD v4 |