| 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.10142002_10142043del | CA645524632 | VHL | c.155_196del (p.Glu52_Ser65del) | COSMIC |
| 3 | g.10142010_10142039del | CA645524640 | VHL | c.163_192del (p.Glu55_Arg64del) | COSMIC |
| 3 | g.10142014_10142052del | CA645524649 | VHL | c.167_205del (p.Ala56_Arg69delinsGly) | COSMIC |
| 3 | g.10142021_10142038del | CA2573320481 | VHL | c.174_191del (p.Pro59_Arg64del) | |
| 3 | g.10142026_10142039del | CA16617784 | VHL | c.179_192del (p.Arg60LeufsTer?) | ClinVar dbSNP |
| 3 | g.10142027_10142055del | CA645524664 | VHL | c.180_208del (p.Pro61AlafsTer?) | COSMIC |
| 3 | g.10142025_10142134del | CA645524667 | VHL | c.178_287del (p.Arg60AlafsTer?) | COSMIC |
| 3 | g.10142027_10142040del | CA2580068390 | VHL | c.180_193del (p.Pro61GlyfsTer?) | ClinVar |
| 3 | g.10142028_10142078del | CA2573130331 | VHL | c.181_231del (p.Pro61_Cys77del) | |
| 3 | g.10142030_10142042del | CA645524670 | VHL | c.183_195del (p.Val62Ter) | COSMIC |
| 3 | g.10142032_10142042del | CA2496441928 | VHL | c.185_195del (p.Val62GlyfsTer?) | |
| 3 | g.10142032_10142040delinsGC | CA645524674 | VHL | c.185_193delinsGC (p.Val62GlyfsTer3) | COSMIC |
| 3 | g.10142032_10142040delinsAGCA | CA2499306941 | VHL | c.185_193delinsAGCA (p.Val62GlufsTer?) | |
| 3 | g.10142036_10142040dup | CA2580068393 | VHL | c.189_193dup (p.Ser65CysfsTer4) | ClinVar |
| 3 | g.10142033_10142046del | CA645524675 | VHL | c.186_199del (p.Arg64AlafsTer?) | COSMIC |
| 3 | g.10142036_10142049del | CA645524678 | VHL | c.189_202del (p.Arg64AlafsTer?) | COSMIC |
| 3 | g.10142035_10142039delinsTGCGC | CA1345065585 | VHL | c.188_192delinsTGCGC (p.Leu63=) | |
| 3 | g.10142035_10142042del | CA891841802 | VHL | c.188_195del (p.Leu63ArgfsTer?) | |
| 3 | g.10142036_10142039del | CA357090 | VHL | c.189_192del (p.Ser65Ter) | ClinVar dbSNP |
| 3 | g.10142038G>A | CA020083 | VHL | c.191G>A (p.Arg64His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142038G>C | CA020089 | VHL | c.191G>C (p.Arg64Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142038G= | CA1345065602 | VHL | c.191G= (p.Arg64=) | |
| 3 | g.10142038G>T | CA351748781 | VHL | c.191G>T (p.Arg64Leu) | gnomAD v4 |
| 3 | g.10142038dup | CA2580068395 | VHL | c.191dup (p.Ser65LeufsTer?) | ClinVar |
| 3 | g.10142038_10142039delinsGC | CA1345065605 | VHL | c.191_192delinsGC (p.Arg64=) | |
| 3 | g.10142039_10142045del | CA645524679 | VHL | c.192_198del (p.Ser65ThrfsTer?) | COSMIC |
| 3 | g.10142039del | CA020094 | VHL | c.192del (p.Ser65ArgfsTer2) | ClinVar dbSNP COSMIC |
| 3 | g.10142039C>A | CA432536392 | VHL | c.192C>A (p.Arg64=) | gnomAD v4 |
| 3 | g.10142039C= | CA1345065611 | VHL | c.192C= (p.Arg64=) | |
| 3 | g.10142039C>G | CA432536393 | VHL | c.192C>G (p.Arg64=) | dbSNP |
| 3 | g.10142039C>T | CA16604426 | VHL | c.192C>T (p.Arg64=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142043_10142051del | CA645524680 | VHL | c.196_204del (p.Val66_Ser68del) | COSMIC |
| 3 | g.10142040del | CA432536394 | VHL | c.193del (p.Ser65ArgfsTer2) | COSMIC |
| 3 | g.10142040T>A | CA351748794 | VHL | c.193T>A (p.Ser65Thr) | ClinVar dbSNP COSMIC |