UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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_10142092del | CA645524716 | VHL | c.221_245del (p.Val74AlafsTer?) | COSMIC |
| 3 | g.10142073_10142082del | CA645524721 | VHL | c.226_235del (p.Phe76AlafsTer?) | 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.10142073_10142078del | CA2573130179 | VHL | c.226_231del (p.Phe76_Cys77del) | |
| 3 | g.10142072_10142082delinsT | CA645524724 | VHL | c.225_235delinsT (p.Phe76AlafsTer?) | COSMIC |
| 3 | g.10142073_10142079del | CA645524727 | VHL | c.226_232del (p.Phe76IlefsTer?) | COSMIC |
| 3 | g.10142074_10142168del | CA645524728 | VHL | c.227_321del (p.Phe76SerfsTer?) c.227_321del (p.Phe76SerfsTer24) c.227_321del (p.Phe76SerfsTer25) | COSMIC |
| 3 | g.10142076_10142078del | CA645524729 | VHL | c.229_231del (p.Cys77del) | COSMIC |
| 3 | g.10142075_10142083delinsGA | CA645524731 | VHL | c.228_236delinsGA (p.Phe76LeufsTer?) | COSMIC |
| 3 | g.10142076_10142084del | CA645524730 | VHL | c.229_237del (p.Cys77_Arg79del) | COSMIC |
| 3 | g.10142077_10142081del | CA645524734 | VHL | c.230_234del (p.Cys77SerfsTer?) | COSMIC |
| 3 | g.10142077_10142078del | CA645524735 | VHL | c.230_231del (p.Cys77Ter) | COSMIC |
| 3 | g.10142077_10142079del | CA645524736 | VHL | c.230_232del (p.Cys77_Asn78delinsTyr) | COSMIC |
| 3 | g.10142078C>A | CA351749279 | VHL | c.231C>A (p.Cys77Ter) | ClinVar dbSNP COSMIC |
| 3 | g.10142078C>G | CA351749280 | VHL | c.231C>G (p.Cys77Trp) | |
| 3 | g.10142078C>T | CA432536439 | VHL | c.231C>T (p.Cys77=) | dbSNP |
| 3 | g.10142078_10142079del | CA645524738 | VHL | c.231_232del (p.Cys77Ter) | COSMIC |
| 3 | g.10142078_10142079delinsCA | CA1345065861 | VHL | c.231_232delinsCA (p.Cys77=) | |
| 3 | g.10142078_10142091del | CA645524739 | VHL | c.231_244del (p.Cys77TrpfsTer?) | COSMIC |
| 3 | g.10142078_10142079insG | CA432536442 | VHL | c.231_232insG (p.Asn78GlufsTer?) | |
| 3 | g.10142078_10142079insTCT | CA2573050816 | VHL | c.231_232insTCT (p.Cys77_Asn78insSer) | |
| 3 | g.10142079A= | CA1345065870 | VHL | c.232A= (p.Asn78=) | |
| 3 | g.10142079A>C | CA351749283 | VHL | c.232A>C (p.Asn78His) | ClinVar dbSNP COSMIC |
| 3 | g.10142079A>G | CA351749284 | VHL | c.232A>G (p.Asn78Asp) | ClinVar dbSNP COSMIC |
| 3 | g.10142079A>T | CA357056 | VHL | c.232A>T (p.Asn78Tyr) | ClinVar dbSNP COSMIC |
| 3 | g.10142079_10142080del | CA645524740 | VHL | c.232_233del (p.Asn78SerfsTer?) | COSMIC |
| 3 | g.10142080dup | CA432536441 | VHL | c.233dup (p.Asn78LysfsTer?) | COSMIC COSMIC |
| 3 | g.10142080del | CA432536440 | VHL | c.233del (p.Asn78IlefsTer?) | ClinVar dbSNP COSMIC |
| 3 | g.10142079_10142081dup | CA645524741 | VHL | c.232_234dup (p.Asn78_Arg79insAsn) | COSMIC |
| 3 | g.10142080A= | CA1345065882 | VHL | c.233A= (p.Asn78=) | |
| 3 | g.10142080A>C | CA357095 | VHL | c.233A>C (p.Asn78Thr) | ClinVar dbSNP COSMIC |
| 3 | g.10142080A>G | CA020131 | VHL | c.233A>G (p.Asn78Ser) | ClinVar dbSNP COSMIC |
| 3 | g.10142080A>T | CA357063 | VHL | c.233A>T (p.Asn78Ile) | ClinVar dbSNP COSMIC |
| 3 | g.10142080_10142081del | CA645524743 | VHL | c.233_234del (p.Asn78ThrfsTer?) | COSMIC |
| 3 | g.10142080_10142090del | CA645524742 | VHL | c.233_243del (p.Asn78ThrfsTer?) | COSMIC |
| 3 | g.10142081del | CA432536445 | VHL | c.234del (p.Arg79AlafsTer?) | COSMIC |
| 3 | g.10142081T>A | CA351749296 | VHL | c.234T>A (p.Asn78Lys) | dbSNP COSMIC |
| 3 | g.10142081T>C | CA432536443 | VHL | c.234T>C (p.Asn78=) | dbSNP |
| 3 | g.10142081T>G | CA351749297 | VHL | c.234T>G (p.Asn78Lys) | dbSNP COSMIC |
| 3 | g.10142081dup | CA432536444 | VHL | c.234dup (p.Arg79SerfsTer?) | COSMIC |
| 3 | g.10142081_10142084del | CA645524745 | VHL | c.234_237del (p.Asn78LysfsTer?) | COSMIC |
| 3 | g.10142083_10142088del | CA645524744 | VHL | c.236_241del (p.Arg79_Ser80del) | COSMIC |
| 3 | g.10142081_10142090delinsTCGCAGTCCG | CA1345065888 | VHL | c.234_243delinsTCGCAGTCCG (p.Asn78=) | |
| 3 | g.10142081_10142082insA | CA432536446 | VHL | c.234_235insA (p.Arg79ThrfsTer?) | COSMIC |
| 3 | g.10142082del | CA432536447 | VHL | c.235del (p.Arg79AlafsTer?) | COSMIC |
| 3 | g.10142082C>A | CA351749302 | VHL | c.235C>A (p.Arg79Ser) | ClinVar dbSNP |
| 3 | g.10142082C= | CA1345065897 | VHL | c.235C= (p.Arg79=) | |
| 3 | g.10142082C>G | CA16611065 | VHL | c.235C>G (p.Arg79Gly) | ClinVar dbSNP COSMIC |
| 3 | g.10142082C>T | CA020136 | VHL | c.235C>T (p.Arg79Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142083_10142084del | CA645524746 | VHL | c.236_237del (p.Arg79GlnfsTer?) | COSMIC |
| 3 | g.10142085_10142093del | CA916081410 | VHL | c.238_246del (p.Ser80_Arg82del) | ClinVar dbSNP |
| 3 | g.10142083del | CA2573320404 | VHL | c.236del (p.Arg79ProfsTer?) | |
| 3 | g.10142083G>A | CA351749309 | VHL | c.236G>A (p.Arg79His) | dbSNP gnomAD v4 COSMIC |
| 3 | g.10142083G>C | CA351749311 | VHL | c.236G>C (p.Arg79Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142083G>T | CA351749314 | VHL | c.236G>T (p.Arg79Leu) | ClinVar |
| 3 | g.10142083_10142084delinsCA | CA645524748 | VHL | c.236_237delinsCA (p.Arg79Pro) | COSMIC |
| 3 | g.10142085_10142103del | CA645524747 | VHL | c.238_256del (p.Ser80ProfsTer?) | COSMIC |
| 3 | g.10142084del | CA645524749 | VHL | c.237del (p.Ser80ValfsTer?) | COSMIC |
| 3 | g.10142084C>A | CA432420443 | VHL | c.237C>A (p.Arg79=) | dbSNP |
| 3 | g.10142084C= | CA1345065903 | VHL | c.237C= (p.Arg79=) | |
| 3 | g.10142084C>G | CA70046079 | VHL | c.237C>G (p.Arg79=) | ClinVar dbSNP COSMIC |
| 3 | g.10142084C>T | CA039906 | VHL | c.237C>T (p.Arg79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142084_10142085del | CA645524750 | VHL | c.237_238del (p.Pro81AlafsTer?) | COSMIC |
| 3 | g.10142084_10142085dup | CA2581463484 | VHL | c.237_238dup (p.Ser80ThrfsTer?) | |
| 3 | g.10142084_10142107delinsCAGTCCGCGCGTCGTGCTGCCCGT | CA1345065904 | VHL | c.237_260delinsCAGTCCGCGCGTCGTGCTGCCCGT (p.Arg79=) | |
| 3 | g.10142085A= | CA1345065910 | VHL | c.238A= (p.Ser80=) | |
| 3 | g.10142085A>C | CA16621913 | VHL | c.238A>C (p.Ser80Arg) | ClinVar dbSNP COSMIC |
| 3 | g.10142085A>G | CA020142 | VHL | c.238A>G (p.Ser80Gly) | ClinVar dbSNP COSMIC |
| 3 | g.10142085A>T | CA351750504 | VHL | c.238A>T (p.Ser80Cys) | dbSNP |
| 3 | g.10142085_10142086del | CA645524752 | VHL | c.238_239del (p.Pro81AlafsTer?) | COSMIC |
| 3 | g.10142085_10142086delinsTT | CA645524751 | VHL | c.238_239delinsTT (p.Ser80Phe) | COSMIC |
| 3 | g.10142086_10142108del | CA913189503 | VHL | c.239_261del (p.Ser80MetfsTer?) | ClinVar dbSNP |
| 3 | g.10142086del | CA913189245 | VHL | c.239del (p.Ser80IlefsTer?) | |
| 3 | g.10142086G>A | CA70046108 | VHL | c.239G>A (p.Ser80Asn) | ClinVar dbSNP COSMIC |
| 3 | g.10142086G>C | CA351750508 | VHL | c.239G>C (p.Ser80Thr) | |
| 3 | g.10142086G= | CA1345065917 | VHL | c.239G= (p.Ser80=) | |
| 3 | g.10142086G>T | CA16621914 | VHL | c.239G>T (p.Ser80Ile) | ClinVar dbSNP COSMIC |
| 3 | g.10142086_10142088del | CA645524753 | VHL | c.239_241del (p.Ser80_Pro81delinsThr) | COSMIC |
| 3 | g.10142086_10142092del | CA913189246 | VHL | c.239_245del (p.Ser80ThrfsTer?) | |
| 3 | g.10142087T>A | CA351750519 | VHL | c.240T>A (p.Ser80Arg) | dbSNP COSMIC |
| 3 | g.10142087T>C | CA432420444 | VHL | c.240T>C (p.Ser80=) | ClinVar dbSNP |
| 3 | g.10142087T>G | CA351750515 | VHL | c.240T>G (p.Ser80Arg) | dbSNP COSMIC |
| 3 | g.10142087T= | CA1345065928 | VHL | c.240T= (p.Ser80=) | |
| 3 | g.10142088C>A | CA351750522 | VHL | c.241C>A (p.Pro81Thr) | gnomAD v4 COSMIC |
| 3 | g.10142088C= | CA1345065933 | VHL | c.241C= (p.Pro81=) | |
| 3 | g.10142088C>G | CA351750524 | VHL | c.241C>G (p.Pro81Ala) | ClinVar dbSNP |
| 3 | g.10142088C>T | CA020148 | VHL | c.241C>T (p.Pro81Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142089del | CA432420447 | VHL | c.242del (p.Pro81ArgfsTer?) | COSMIC |
| 3 | g.10142088_10142091dup | CA2499216350 | VHL | c.241_244dup (p.Arg82ProfsTer?) | ClinVar dbSNP |
| 3 | g.10142089_10142093del | CA645524754 | VHL | c.242_246del (p.Pro81ArgfsTer?) | COSMIC |
| 3 | g.10142091_10142106dup | CA2499216351 | VHL | c.244_259dup (p.Val87AlafsTer?) | ClinVar dbSNP |
| 3 | g.10142089C>A | CA351750529 | VHL | c.242C>A (p.Pro81Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142089C= | CA1345065940 | VHL | c.242C= (p.Pro81=) | |
| 3 | g.10142089C>G | CA351750531 | VHL | c.242C>G (p.Pro81Arg) | |
| 3 | g.10142089C>T | CA020154 | VHL | c.242C>T (p.Pro81Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142093_10142094del | CA645524757 | VHL | c.246_247del (p.Val83ArgfsTer?) | COSMIC |
| 3 | g.10142091_10142094del | CA645524756 | VHL | c.244_247del (p.Arg82SerfsTer?) | COSMIC |
| 3 | g.10142091_10142097del | CA645524755 | VHL | c.244_250del (p.Arg82CysfsTer?) | COSMIC |
| 3 | g.10142090G>A | CA039977 | VHL | c.243G>A (p.Pro81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142090G>C | CA432420449 | VHL | c.243G>C (p.Pro81=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142090G= | CA1345065945 | VHL | c.243G= (p.Pro81=) | |
| 3 | g.10142090G>T | CA432420451 | VHL | c.243G>T (p.Pro81=) | gnomAD v4 |
| 3 | g.10142090dup | CA645524758 | VHL | c.243dup (p.Arg82AlafsTer?) | COSMIC |
| 3 | g.10142090_10142094del | CA645524759 | VHL | c.243_247del (p.Val83AlafsTer?) | COSMIC |
| 3 | g.10142092_10142100del | CA658820713 | VHL | c.245_253del (p.Arg82_Val84del) | |
| 3 | g.10142091del | CA432420453 | VHL | c.244del (p.Arg82AlafsTer?) | COSMIC |
| 3 | g.10142091C>A | CA351750539 | VHL | c.244C>A (p.Arg82Ser) | |
| 3 | g.10142091C= | CA1345065949 | VHL | c.244C= (p.Arg82=) | |
| 3 | g.10142091C>G | CA351750544 | VHL | c.244C>G (p.Arg82Gly) | ClinVar dbSNP COSMIC |
| 3 | g.10142091C>T | CA351750541 | VHL | c.244C>T (p.Arg82Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10142092G>A | CA351750549 | VHL | c.245G>A (p.Arg82His) | ClinVar dbSNP |
| 3 | g.10142092G>C | CA020159 | VHL | c.245G>C (p.Arg82Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142092G= | CA1345065953 | VHL | c.245G= (p.Arg82=) | |
| 3 | g.10142092G>T | CA351750555 | VHL | c.245G>T (p.Arg82Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142093C>A | CA432420458 | VHL | c.246C>A (p.Arg82=) | gnomAD v4 |
| 3 | g.10142093C= | CA1345065955 | VHL | c.246C= (p.Arg82=) | |
| 3 | g.10142093C>G | CA432420459 | VHL | c.246C>G (p.Arg82=) | dbSNP |
| 3 | g.10142093C>T | CA020164 | VHL | c.246C>T (p.Arg82=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142093_10142101del | CA645524760 | VHL | c.246_254del (p.Val83_Leu85del) | COSMIC |
| 3 | g.10142094del | CA432420460 | VHL | c.247del (p.Val83SerfsTer?) | COSMIC |
| 3 | g.10142094G>A | CA351750561 | VHL | c.247G>A (p.Val83Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142094G>C | CA040005 | VHL | c.247G>C (p.Val83Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142094G= | CA1345065961 | VHL | c.247G= (p.Val83=) | |
| 3 | g.10142094G>T | CA351750564 | VHL | c.247G>T (p.Val83Phe) | gnomAD v4 COSMIC |
| 3 | g.10142095_10142102del | CA645524761 | VHL | c.248_255del (p.Val83AlafsTer?) | COSMIC |
| 3 | g.10142095T>A | CA351750571 | VHL | c.248T>A (p.Val83Asp) | |
| 3 | g.10142095T>C | CA040024 | VHL | c.248T>C (p.Val83Ala) | dbSNP ExAC |
| 3 | g.10142095T>G | CA351750576 | VHL | c.248T>G (p.Val83Gly) | dbSNP |
| 3 | g.10142095T= | CA1345065964 | VHL | c.248T= (p.Val83=) | |
| 3 | g.10142095_10142096insAT | CA645524762 | VHL | c.248_249insAT (p.Val84SerfsTer?) | COSMIC |
| 3 | g.10142096C>A | CA432420462 | VHL | c.249C>A (p.Val83=) | |
| 3 | g.10142096C= | CA1345065966 | VHL | c.249C= (p.Val83=) | |
| 3 | g.10142096C>G | CA432420463 | VHL | c.249C>G (p.Val83=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10142096C>T | CA432420464 | VHL | c.249C>T (p.Val83=) | dbSNP gnomAD v4 |
| 3 | g.10142096_10142097del | CA645524766 | VHL | c.249_250del (p.Val84AlafsTer?) | COSMIC |
| 3 | g.10142097_10142100del | CA645524765 | VHL | c.250_253del (p.Val84CysfsTer?) | COSMIC |
| 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.10142097del | CA2580068400 | VHL | c.250del (p.Val84CysfsTer?) | ClinVar |
| 3 | g.10142097G>A | CA351750580 | VHL | c.250G>A (p.Val84Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10142097G>C | CA10578180 | VHL | c.250G>C (p.Val84Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142097G= | CA1345065972 | VHL | c.250G= (p.Val84=) | |
| 3 | g.10142097G>T | CA020170 | VHL | c.250G>T (p.Val84Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142098T>A | CA351750592 | VHL | c.251T>A (p.Val84Glu) | ClinVar dbSNP |
| 3 | g.10142098T>C | CA351750594 | VHL | c.251T>C (p.Val84Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142098T>G | CA351750597 | VHL | c.251T>G (p.Val84Gly) | dbSNP |
| 3 | g.10142098T= | CA1345065981 | VHL | c.251T= (p.Val84=) | |
| 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.10142099del | CA432420467 | VHL | c.252del (p.Leu85CysfsTer?) | COSMIC |
| 3 | g.10142099G>A | CA432420466 | VHL | c.252G>A (p.Val84=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142099G>C | CA432420469 | VHL | c.252G>C (p.Val84=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10142099G= | CA1345065984 | VHL | c.252G= (p.Val84=) | |
| 3 | g.10142099G>T | CA432420470 | VHL | c.252G>T (p.Val84=) | dbSNP gnomAD v4 |
| 3 | g.10142101_10142130del | CA2499306645 | VHL | c.254_283del (p.Leu85_Glu94del) | |
| 3 | g.10142100del | CA432420472 | VHL | c.253del (p.Leu85CysfsTer?) | COSMIC |
| 3 | g.10142100C>A | CA351750602 | VHL | c.253C>A (p.Leu85Met) | dbSNP |
| 3 | g.10142100C= | CA1345065989 | VHL | c.253C= (p.Leu85=) | |
| 3 | g.10142100C>G | CA351750604 | VHL | c.253C>G (p.Leu85Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142100C>T | CA432420471 | VHL | c.253C>T (p.Leu85=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142100_10142102delinsTTT | CA2586965647 | VHL | c.253_255delinsTTT (p.Leu85Phe) | |
| 3 | g.10142100_10142107del | CA645524770 | VHL | c.253_260del (p.Leu85MetfsTer?) | COSMIC |
| 3 | g.10142101T>A | CA351750614 | VHL | c.254T>A (p.Leu85Gln) | dbSNP |
| 3 | g.10142101T>C | CA16602675 | VHL | c.254T>C (p.Leu85Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142101T>G | CA351750609 | VHL | c.254T>G (p.Leu85Arg) | |
| 3 | g.10142101T= | CA1345065994 | VHL | c.254T= (p.Leu85=) | |
| 3 | g.10142101dup | CA2586965648 | VHL | c.254dup (p.Pro86AlafsTer?) | |
| 3 | g.10142101_10142102insC | CA2497028737 | VHL | c.254_255insC (p.Pro86AlafsTer?) | |
| 3 | g.10142102G>A | CA10578181 | VHL | c.255G>A (p.Leu85=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142102G>C | CA432420476 | VHL | c.255G>C (p.Leu85=) | ClinVar |
| 3 | g.10142102G= | CA1345066002 | VHL | c.255G= (p.Leu85=) | |
| 3 | g.10142102G>T | CA432420475 | VHL | c.255G>T (p.Leu85=) | ClinVar dbSNP gnomAD v4 |
| 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 |
| 3 | g.10142105_10142106insT | CA432420480 | VHL | c.258_259insT (p.Val87CysfsTer?) | |
| 3 | g.10142106G>A | CA351750641 | VHL | c.259G>A (p.Val87Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142106G>C | CA351750645 | VHL | c.259G>C (p.Val87Leu) | dbSNP |
| 3 | g.10142106G>T | CA351750649 | VHL | c.259G>T (p.Val87Leu) | dbSNP gnomAD v4 |
| 3 | g.10142106_10142107del | CA2695197690 | VHL | c.259_260del (p.Val87MetfsTer?) | ClinVar |
| 3 | g.10142107_10142110del | CA2573320242 | VHL | c.260_263del (p.Val87GlyfsTer29) c.260_263del (p.Val87GlyfsTer?) c.260_263del (p.Val87GlyfsTer30) | |
| 3 | g.10142106_10142111del | CA645524776 | VHL | c.259_264del (p.Val87_Trp88del) | COSMIC |
| 3 | g.10142106_10142107insA | CA913189242 | VHL | c.259_260insA (p.Val87AspfsTer?) | |
| 3 | g.10142107del | CA432420483 | VHL | c.260del (p.Val87AspfsTer30) c.260del (p.Val87AspfsTer?) | COSMIC |
| 3 | g.10142107T>A | CA351750651 | VHL | c.260T>A (p.Val87Glu) | dbSNP |
| 3 | g.10142107T>C | CA351750654 | VHL | c.260T>C (p.Val87Ala) | dbSNP COSMIC |
| 3 | g.10142107T>G | CA351750660 | VHL | c.260T>G (p.Val87Gly) | dbSNP |
| 3 | g.10142107dup | CA1139770764 | VHL | c.260dup (p.Trp88MetfsTer?) | |
| 3 | g.10142107_10142109del | CA645524777 | VHL | c.260_262del (p.Val87_Trp88delinsGly) | COSMIC |
| 3 | g.10142108_10142109dup | CA2580068401 | VHL | c.261_262dup (p.Trp88TyrfsTer30) c.261_262dup (p.Trp88TyrfsTer?) c.261_262dup (p.Trp88TyrfsTer31) | ClinVar |
| 3 | g.10142108_10142109del | CA645524778 | VHL | c.261_262del (p.Trp88AlafsTer?) | COSMIC |
| 3 | g.10142108A= | CA1345066040 | VHL | c.261A= (p.Val87=) | |
| 3 | g.10142108A>C | CA432420484 | VHL | c.261A>C (p.Val87=) | dbSNP |
| 3 | g.10142108A>G | CA432420486 | VHL | c.261A>G (p.Val87=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142108A>T | CA432420485 | VHL | c.261A>T (p.Val87=) | dbSNP |
| 3 | g.10142108dup | CA2573050932 | VHL | c.261dup (p.Trp88MetfsTer?) | |
| 3 | g.10142108_10142109insGGCTCAAC | CA645524779 | VHL | c.261_262insGGCTCAAC (p.Trp88GlyfsTer32) c.261_262insGGCTCAAC (p.Trp88GlyfsTer?) | COSMIC |
| 3 | g.10142109T>A | CA351750671 | VHL | c.262T>A (p.Trp88Arg) | ClinVar dbSNP COSMIC |
| 3 | g.10142109T>C | CA351750667 | VHL | c.262T>C (p.Trp88Arg) | ClinVar dbSNP COSMIC |
| 3 | g.10142109T>G | CA351750664 | VHL | c.262T>G (p.Trp88Gly) | COSMIC |
| 3 | g.10142109T= | CA1345066045 | VHL | c.262T= (p.Trp88=) | |
| 3 | g.10142109_10142110insCGGCT | CA645524780 | VHL | c.262_263insCGGCT (p.Trp88SerfsTer31) c.262_263insCGGCT (p.Trp88SerfsTer?) c.262_263insCGGCT (p.Trp88SerfsTer32) | COSMIC |
| 3 | g.10142110G>A | CA020197 | VHL | c.263G>A (p.Trp88Ter) | ClinVar dbSNP COSMIC |
| 3 | g.10142110G>C | CA020202 | VHL | c.263G>C (p.Trp88Ser) | ClinVar dbSNP COSMIC |
| 3 | g.10142110G= | CA1345066056 | VHL | c.263G= (p.Trp88=) | |
| 3 | g.10142110G>T | CA351750675 | VHL | c.263G>T (p.Trp88Leu) | dbSNP COSMIC |
| 3 | g.10142111del | CA432420490 | VHL | c.264del (p.Trp88CysfsTer29) c.264del (p.Trp88CysfsTer?) c.264del (p.Trp88CysfsTer30) | COSMIC |
| 3 | g.10142110_10142112delinsTT | CA658683075 | VHL | c.263_265delinsTT (p.Trp88PhefsTer29) c.263_265delinsTT (p.Trp88PhefsTer?) c.263_265delinsTT (p.Trp88PhefsTer30) | |
| 3 | g.10142110_10142112dup | CA645369327 | VHL | c.263_265dup (p.Trp88_Leu89insArg) | ClinVar dbSNP |
| 3 | g.10142110_10142117del | CA645524781 | VHL | c.263_270del (p.Trp88PhefsTer?) | COSMIC |
| 3 | g.10142111G>A | CA351750677 | VHL | c.264G>A (p.Trp88Ter) | ClinVar dbSNP COSMIC |
| 3 | g.10142111G>C | CA351750678 | VHL | c.264G>C (p.Trp88Cys) | ClinVar dbSNP COSMIC |
| 3 | g.10142111G= | CA1345066066 | VHL | c.264G= (p.Trp88=) | |
| 3 | g.10142111G>T | CA357078 | VHL | c.264G>T (p.Trp88Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142111_10142114dup | CA1139655728 | VHL | c.264_267dup (p.Asn90AlafsTer?) | ClinVar dbSNP |
| 3 | g.10142112_10142121del | CA645524782 | VHL | c.265_274del (p.Leu89ThrfsTer25) c.265_274del (p.Leu89ThrfsTer?) c.265_274del (p.Leu89ThrfsTer26) | COSMIC |
| 3 | g.10142112C>A | CA351750679 | VHL | c.265C>A (p.Leu89Ile) | |
| 3 | g.10142112C= | CA1345066073 | VHL | c.265C= (p.Leu89=) | |
| 3 | g.10142112C>G | CA351750680 | VHL | c.265C>G (p.Leu89Val) | |
| 3 | g.10142112C>T | CA351750683 | VHL | c.265C>T (p.Leu89Phe) | ClinVar dbSNP |
| 3 | g.10142113_10142123del | CA1139771712 | VHL | c.266_276del (p.Leu89ArgfsTer?) | |
| 3 | g.10142112_10142113insG | CA432420491 | VHL | c.265_266insG (p.Leu89ArgfsTer?) | |
| 3 | g.10142113T>A | CA16602514 | VHL | c.266T>A (p.Leu89His) | ClinVar dbSNP COSMIC |
| 3 | g.10142113T>C | CA020207 | VHL | c.266T>C (p.Leu89Pro) | ClinVar dbSNP |
| 3 | g.10142113T>G | CA351750693 | VHL | c.266T>G (p.Leu89Arg) | COSMIC |
| 3 | g.10142113T= | CA1345066074 | VHL | c.266T= (p.Leu89=) | |
| 3 | g.10142114C>A | CA040097 | VHL | c.267C>A (p.Leu89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142114C= | CA1345066077 | VHL | c.267C= (p.Leu89=) | |
| 3 | g.10142114C>G | CA432420492 | VHL | c.267C>G (p.Leu89=) | ClinVar dbSNP |
| 3 | g.10142114C>T | CA432420493 | VHL | c.267C>T (p.Leu89=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142114_10142115delinsCA | CA1345066079 | VHL | c.267_268delinsCA (p.Leu89=) | |
| 3 | g.10142115_10142117del | CA645524783 | VHL | c.268_270del (p.Asn90del) | COSMIC |
| 3 | g.10142115A= | CA1345066087 | VHL | c.268A= (p.Asn90=) | |
| 3 | g.10142115A>C | CA351750708 | VHL | c.268A>C (p.Asn90His) | |
| 3 | g.10142115A>G | CA351750699 | VHL | c.268A>G (p.Asn90Asp) | dbSNP |
| 3 | g.10142115A>T | CA351750702 | VHL | c.268A>T (p.Asn90Tyr) | ClinVar dbSNP COSMIC |
| 3 | g.10142116dup | CA2586965652 | VHL | c.269dup (p.Asn90LysfsTer?) | |
| 3 | g.10142116del | CA357100 | VHL | c.269del (p.Asn90ThrfsTer27) c.269del (p.Asn90ThrfsTer?) c.269del (p.Asn90ThrfsTer28) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10142116_10142122del | CA645524784 | VHL | c.269_275del (p.Asn90ThrfsTer25) c.269_275del (p.Asn90ThrfsTer?) c.269_275del (p.Asn90ThrfsTer26) | COSMIC |
| 3 | g.10142116A= | CA1345066090 | VHL | c.269A= (p.Asn90=) | |
| 3 | g.10142116A>C | CA351750709 | VHL | c.269A>C (p.Asn90Thr) | ClinVar dbSNP |
| 3 | g.10142116A>G | CA020212 | VHL | c.269A>G (p.Asn90Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142116A>T | CA357043 | VHL | c.269A>T (p.Asn90Ile) | ClinVar dbSNP COSMIC |
| 3 | g.10142117del | CA645524787 | VHL | c.270del (p.Phe91SerfsTer26) c.270del (p.Phe91SerfsTer?) c.270del (p.Phe91SerfsTer27) | COSMIC |
| 3 | g.10142117C>A | CA351750714 | VHL | c.270C>A (p.Asn90Lys) | |
| 3 | g.10142117C>G | CA351750717 | VHL | c.270C>G (p.Asn90Lys) | |
| 3 | g.10142117C>T | CA432420494 | VHL | c.270C>T (p.Asn90=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142117_10142118del | CA2695196567 | VHL | c.270_271del (p.Phe91ArgfsTer?) | |
| 3 | g.10142118_10142120del | CA645524785 | VHL | c.271_273del (p.Phe91del) | COSMIC |
| 3 | g.10142117_10142127del | CA645524786 | VHL | c.270_280del (p.Asn90LysfsTer?) | COSMIC |
| 3 | g.10142118T>A | CA351750719 | VHL | c.271T>A (p.Phe91Ile) | |
| 3 | g.10142118T>C | CA351750722 | VHL | c.271T>C (p.Phe91Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142118T>G | CA16020703 | VHL | c.271T>G (p.Phe91Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142118T= | CA1345066093 | VHL | c.271T= (p.Phe91=) | |
| 3 | g.10142119del | CA432420495 | VHL | c.272del (p.Phe91SerfsTer26) c.272del (p.Phe91SerfsTer?) c.272del (p.Phe91SerfsTer27) | COSMIC COSMIC COSMIC |
| 3 | g.10142119T>A | CA351750730 | VHL | c.272T>A (p.Phe91Tyr) | dbSNP |
| 3 | g.10142119T>C | CA351750741 | VHL | c.272T>C (p.Phe91Ser) | dbSNP |
| 3 | g.10142119T>G | CA351750742 | VHL | c.272T>G (p.Phe91Cys) | |
| 3 | g.10142119_10142120delinsAA | CA2499307077 | VHL | c.272_273delinsAA (p.Phe91Ter) | |
| 3 | g.10142119_10142120delinsTC | CA1345066096 | VHL | c.272_273delinsTC (p.Phe91=) | |
| 3 | g.10142119_10142131del | CA645524788 | VHL | c.272_284del (p.Phe91CysfsTer22) c.272_284del (p.Phe91CysfsTer?) c.272_284del (p.Phe91CysfsTer23) | COSMIC |
| 3 | g.10142120del | CA432420496 | VHL | c.273del (p.Phe91LeufsTer26) c.273del (p.Phe91LeufsTer?) c.273del (p.Phe91LeufsTer27) | ClinVar dbSNP COSMIC |
| 3 | g.10142120C>A | CA16611270 | VHL | c.273C>A (p.Phe91Leu) | ClinVar dbSNP |
| 3 | g.10142120C= | CA1345066103 | VHL | c.273C= (p.Phe91=) | |
| 3 | g.10142120C>G | CA351750747 | VHL | c.273C>G (p.Phe91Leu) | dbSNP |
| 3 | g.10142120C>T | CA432420497 | VHL | c.273C>T (p.Phe91=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142120_10142121del | CA645524791 | VHL | c.273_274del (p.Phe91LeufsTer?) | COSMIC |
| 3 | g.10142122_10142124del | CA645524790 | VHL | c.275_277del (p.Asp92del) | COSMIC |
| 3 | g.10142120_10142128del | CA645524792 | VHL | c.273_281del (p.Phe91_Glu94delinsLeu) | COSMIC |
| 3 | g.10142122_10142132del | CA645524789 | VHL | c.275_285del (p.Asp92AlafsTer?) | COSMIC |
| 3 | g.10142121G>A | CA351750750 | VHL | c.274G>A (p.Asp92Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142121G>C | CA351750757 | VHL | c.274G>C (p.Asp92His) | dbSNP gnomAD v4 |
| 3 | g.10142121G= | CA1345066108 | VHL | c.274G= (p.Asp92=) | |
| 3 | g.10142121G>T | CA020217 | VHL | c.274G>T (p.Asp92Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10142121_10142125del | CA645524793 | VHL | c.274_278del (p.Asp92ArgfsTer?) | COSMIC |
| 3 | g.10142121_10142139delinsGACGGCGAGCCGCAGCCCT | CA1345066109 | VHL | c.274_292delinsGACGGCGAGCCGCAGCCCT (p.Asp92=) | |
| 3 | g.10142122del | CA432420498 | VHL | c.275del (p.Asp92AlafsTer25) c.275del (p.Asp92AlafsTer?) c.275del (p.Asp92AlafsTer26) | COSMIC |
| 3 | g.10142122A= | CA1345066115 | VHL | c.275A= (p.Asp92=) | |
| 3 | g.10142122A>C | CA351750762 | VHL | c.275A>C (p.Asp92Ala) | ClinVar dbSNP |
| 3 | g.10142122A>G | CA351750765 | VHL | c.275A>G (p.Asp92Gly) | dbSNP |
| 3 | g.10142122A>T | CA020224 | VHL | c.275A>T (p.Asp92Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142122delinsCC | CA1139768933 | VHL | c.275delinsCC (p.Asp92AlafsTer?) | |
| 3 | g.10142122_10142129delinsT | CA645524794 | VHL | c.275_282delinsT (p.Asp92ValfsTer23) c.275_282delinsT (p.Asp92ValfsTer?) c.275_282delinsT (p.Asp92ValfsTer24) | COSMIC |
| 3 | g.10142124_10142141del | CA891843321 | VHL | c.277_294del (p.Gly93_Tyr98del) | ClinVar dbSNP |
| 3 | g.10142122_10142123insGG | CA645524796 | VHL | c.275_276insGG (p.Asp92GlufsTer26) c.275_276insGG (p.Asp92GlufsTer?) c.275_276insGG (p.Asp92GlufsTer27) | COSMIC |
| 3 | g.10142123C>A | CA351750771 | VHL | c.276C>A (p.Asp92Glu) | dbSNP |
| 3 | g.10142123C= | CA1345066121 | VHL | c.276C= (p.Asp92=) | |
| 3 | g.10142123C>G | CA351750775 | VHL | c.276C>G (p.Asp92Glu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142123C>T | CA432420499 | VHL | c.276C>T (p.Asp92=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142123_10142124delinsCG | CA1345066119 | VHL | c.276_277delinsCG (p.Asp92=) | |
| 3 | g.10142125_10142127del | CA645524795 | VHL | c.278_280del (p.Gly93del) | COSMIC |
| 3 | g.10142124G>A | CA020230 | VHL | c.277G>A (p.Gly93Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142124G>C | CA357130 | VHL | c.277G>C (p.Gly93Arg) | ClinVar dbSNP COSMIC |
| 3 | g.10142124G= | CA1345066132 | VHL | c.277G= (p.Gly93=) | |
| 3 | g.10142124G>T | CA357106 | VHL | c.277G>T (p.Gly93Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142125del | CA432420500 | VHL | c.278del (p.Gly93AlafsTer24) c.278del (p.Gly93AlafsTer?) c.278del (p.Gly93AlafsTer25) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10142125G>A | CA351750781 | VHL | c.278G>A (p.Gly93Asp) | ClinVar dbSNP |
| 3 | g.10142125G>C | CA351750780 | VHL | c.278G>C (p.Gly93Ala) | ClinVar dbSNP |
| 3 | g.10142125G= | CA1345066148 | VHL | c.278G= (p.Gly93=) | |
| 3 | g.10142125G>T | CA351750779 | VHL | c.278G>T (p.Gly93Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142125_10142126delinsGC | CA1345066154 | VHL | c.278_279delinsGC (p.Gly93=) | |
| 3 | g.10142125_10142126delinsTT | CA891843322 | VHL | c.278_279delinsTT (p.Gly93Val) | ClinVar dbSNP |
| 3 | g.10142126_10142127dup | CA645524798 | VHL | c.279_280dup (p.Glu94AlafsTer24) c.279_280dup (p.Glu94AlafsTer?) c.279_280dup (p.Glu94AlafsTer25) | COSMIC |
| 3 | g.10142126_10142127del | CA645524797 | VHL | c.279_280del (p.Glu94AlafsTer?) | COSMIC |
| 3 | g.10142126del | CA658820711 | VHL | c.279del (p.Glu94SerfsTer23) c.279del (p.Glu94SerfsTer?) c.279del (p.Glu94SerfsTer24) | |
| 3 | g.10142126C>A | CA432420501 | VHL | c.279C>A (p.Gly93=) | gnomAD v4 |
| 3 | g.10142126C= | CA1345066159 | VHL | c.279C= (p.Gly93=) | |
| 3 | g.10142126C>G | CA432420502 | VHL | c.279C>G (p.Gly93=) | |
| 3 | g.10142126C>T | CA432420503 | VHL | c.279C>T (p.Gly93=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142127_10142128insGACG | CA645524799 | VHL | c.280_281insGACG (p.Glu94GlyfsTer?) | COSMIC |
| 3 | g.10142127G>A | CA020237 | VHL | c.280G>A (p.Glu94Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142127G>C | CA351750786 | VHL | c.280G>C (p.Glu94Gln) | gnomAD v4 |
| 3 | g.10142127G= | CA1345066162 | VHL | c.280G= (p.Glu94=) | |
| 3 | g.10142127G>T | CA70046202 | VHL | c.280G>T (p.Glu94Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142128del | CA645524803 | VHL | c.281del (p.Glu94GlyfsTer23) c.281del (p.Glu94GlyfsTer?) c.281del (p.Glu94GlyfsTer24) | COSMIC |
| 3 | g.10142128A>C | CA351750787 | VHL | c.281A>C (p.Glu94Ala) | dbSNP |
| 3 | g.10142128A>G | CA351750790 | VHL | c.281A>G (p.Glu94Gly) | dbSNP |
| 3 | g.10142128A>T | CA351750794 | VHL | c.281A>T (p.Glu94Val) | ClinVar dbSNP |
| 3 | g.10142128_10142129insACAA | CA645524801 | VHL | c.281_282insACAA (p.Pro95GlnfsTer?) | COSMIC |
| 3 | g.10142128_10142138del | CA645524802 | VHL | c.281_291del (p.Glu94ValfsTer?) | COSMIC |
| 3 | g.10142129_10142144del | CA645524800 | VHL | c.282_297del (p.Pro95ArgfsTer17) c.282_297del (p.Pro95ArgfsTer?) c.282_297del (p.Pro95ArgfsTer18) | COSMIC |
| 3 | g.10142129del | CA645524805 | VHL | c.282del (p.Glu94AspfsTer23) c.282del (p.Glu94AspfsTer?) c.282del (p.Glu94AspfsTer24) | COSMIC |
| 3 | g.10142129G>A | CA432420504 | VHL | c.282G>A (p.Glu94=) | ClinVar dbSNP |
| 3 | g.10142129G>C | CA351750796 | VHL | c.282G>C (p.Glu94Asp) | dbSNP |
| 3 | g.10142129G= | CA1345066169 | VHL | c.282G= (p.Glu94=) | |
| 3 | g.10142129G>T | CA351750798 | VHL | c.282G>T (p.Glu94Asp) | ClinVar gnomAD v4 |
| 3 | g.10142129_10142130del | CA645524804 | VHL | c.282_283del (p.Glu94AspfsTer?) | COSMIC |
| 3 | g.10142129_10142138del | CA645524806 | VHL | c.282_291del (p.Glu94AspfsTer20) c.282_291del (p.Glu94AspfsTer?) c.282_291del (p.Glu94AspfsTer21) | COSMIC |
| 3 | g.10142129_10142138dup | CA2573050500 | VHL | c.282_291dup (p.Tyr98AlafsTer?) | |
| 3 | g.10142134_10142154del | CA2573106190 | VHL | c.287_307del (p.Gln96_Pro102del) | |
| 3 | g.10142130C>A | CA351750800 | VHL | c.283C>A (p.Pro95Thr) | gnomAD v4 |
| 3 | g.10142130C= | CA1345066178 | VHL | c.283C= (p.Pro95=) | |
| 3 | g.10142130C>G | CA351750804 | VHL | c.283C>G (p.Pro95Ala) | dbSNP |
| 3 | g.10142130C>T | CA351750807 | VHL | c.283C>T (p.Pro95Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142131del | CA2497030172 | VHL | c.284del (p.Pro95ArgfsTer22) c.284del (p.Pro95ArgfsTer?) c.284del (p.Pro95ArgfsTer23) | |
| 3 | g.10142132_10142138del | CA645524808 | VHL | c.285_291del (p.Gln96ThrfsTer19) c.285_291del (p.Gln96ThrfsTer?) c.285_291del (p.Gln96ThrfsTer20) | COSMIC |
| 3 | g.10142130_10142144del | CA645524807 | VHL | c.283_297del (p.Pro95_Pro99del) | COSMIC |
| 3 | g.10142131C>A | CA351750808 | VHL | c.284C>A (p.Pro95Gln) | dbSNP COSMIC |
| 3 | g.10142131C= | CA1345066184 | VHL | c.284C= (p.Pro95=) | |
| 3 | g.10142131C>G | CA351750809 | VHL | c.284C>G (p.Pro95Arg) | ClinVar dbSNP COSMIC |
| 3 | g.10142131C>T | CA70046204 | VHL | c.284C>T (p.Pro95Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142131_10142132insA | CA645524811 | VHL | c.284_285insA (p.Gln96AlafsTer?) | COSMIC |
| 3 | g.10142132del | CA645524810 | VHL | c.285del (p.Gln96SerfsTer21) c.285del (p.Gln96SerfsTer?) c.285del (p.Gln96SerfsTer22) | COSMIC |
| 3 | g.10142132G>A | CA432420507 | VHL | c.285G>A (p.Pro95=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142132G>C | CA432420505 | VHL | c.285G>C (p.Pro95=) | dbSNP |
| 3 | g.10142132G= | CA1345066189 | VHL | c.285G= (p.Pro95=) | |
| 3 | g.10142132G>T | CA70046206 | VHL | c.285G>T (p.Pro95=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10142132dup | CA432420506 | VHL | c.285dup (p.Gln96AlafsTer?) | COSMIC |
| 3 | g.10142134_10142136del | CA645524809 | VHL | c.287_289del (p.Gln96del) | COSMIC |
| 3 | g.10142132_10142133insA | CA432420508 | VHL | c.285_286insA (p.Gln96ThrfsTer?) | COSMIC |
| 3 | g.10142133del | CA432420509 | VHL | c.286del (p.Gln96SerfsTer21) c.286del (p.Gln96SerfsTer?) c.286del (p.Gln96SerfsTer22) | COSMIC |
| 3 | g.10142133C>A | CA351750818 | VHL | c.286C>A (p.Gln96Lys) | |
| 3 | g.10142133C= | CA1345066200 | VHL | c.286C= (p.Gln96=) | |
| 3 | g.10142133C>G | CA351750816 | VHL | c.286C>G (p.Gln96Glu) | |
| 3 | g.10142133C>T | CA351750811 | VHL | c.286C>T (p.Gln96Ter) | ClinVar dbSNP COSMIC |
| 3 | g.10142133_10142135delinsACC | CA2573136088 | VHL | c.286_288delinsACC (p.Gln96Thr) | ClinVar dbSNP |
| 3 | g.10142134_10142138del | CA645524812 | VHL | c.287_291del (p.Gln96LeufsTer?) | COSMIC |
| 3 | g.10142134del | CA645524813 | VHL | c.287del (p.Gln96ArgfsTer21) c.287del (p.Gln96ArgfsTer?) c.287del (p.Gln96ArgfsTer22) | COSMIC |
| 3 | g.10142134A= | CA1345066206 | VHL | c.287A= (p.Gln96=) | |
| 3 | g.10142134A>C | CA351750823 | VHL | c.287A>C (p.Gln96Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142134A>G | CA351750825 | VHL | c.287A>G (p.Gln96Arg) | dbSNP |
| 3 | g.10142134A>T | CA351750829 | VHL | c.287A>T (p.Gln96Leu) | dbSNP |
| 3 | g.10142134dup | CA432420510 | VHL | c.287dup (p.Pro97AlafsTer?) | |
| 3 | g.10142134_10142135insCTGCC | CA645524815 | VHL | c.287_288insCTGCC (p.Gln96HisfsTer23) c.287_288insCTGCC (p.Gln96HisfsTer?) c.287_288insCTGCC (p.Gln96HisfsTer24) | COSMIC |
| 3 | g.10142135G>A | CA432420511 | VHL | c.288G>A (p.Gln96=) | ClinVar dbSNP |
| 3 | g.10142135G>C | CA351750833 | VHL | c.288G>C (p.Gln96His) | dbSNP |
| 3 | g.10142135G= | CA1345066212 | VHL | c.288G= (p.Gln96=) | |
| 3 | g.10142135G>T | CA351750838 | VHL | c.288G>T (p.Gln96His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142135_10142137del | CA2573106244 | VHL | c.288_290del (p.Gln96_Pro97delinsHis) | |
| 3 | g.10142135_10142138del | CA645524814 | VHL | c.288_291del (p.Gln96HisfsTer20) c.288_291del (p.Gln96HisfsTer?) c.288_291del (p.Gln96HisfsTer21) | COSMIC |
| 3 | g.10142135_10142141delinsGCCCTAC | CA1345066214 | VHL | c.288_294delinsGCCCTAC (p.Gln96=) | |
| 3 | g.10142135_10142136insA | CA2573048998 | VHL | c.288_289insA (p.Pro97ThrfsTer?) | |
| 3 | g.10142136C>A | CA351750843 | VHL | c.289C>A (p.Pro97Thr) | ClinVar dbSNP |
| 3 | g.10142136C= | CA1345066223 | VHL | c.289C= (p.Pro97=) | |
| 3 | g.10142136C>G | CA351750846 | VHL | c.289C>G (p.Pro97Ala) | |
| 3 | g.10142136C>T | CA339035 | VHL | c.289C>T (p.Pro97Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142138del | CA432420512 | VHL | c.291del (p.Tyr98ThrfsTer19) c.291del (p.Tyr98ThrfsTer?) c.291del (p.Tyr98ThrfsTer20) | COSMIC |
| 3 | g.10142137_10142138del | CA645524816 | VHL | c.290_291del (p.Pro97LeufsTer?) | COSMIC |
| 3 | g.10142136_10142140delinsCCCTA | CA1345066219 | VHL | c.289_293delinsCCCTA (p.Pro97=) | |
| 3 | g.10142139_10142143del | CA645524818 | VHL | c.292_296del (p.Tyr98AsnfsTer?) | COSMIC |
| 3 | g.10142138_10142143del | CA915941835 | VHL | c.291_296del (p.Tyr98_Pro99del) | ClinVar dbSNP |
| 3 | g.10142137_10142146del | CA645524817 | VHL | c.290_299del (p.Pro97ArgfsTer17) c.290_299del (p.Pro97ArgfsTer?) c.290_299del (p.Pro97ArgfsTer18) | COSMIC |
| 3 | g.10142137C>A | CA351750864 | VHL | c.290C>A (p.Pro97His) | |
| 3 | g.10142137C>G | CA351750869 | VHL | c.290C>G (p.Pro97Arg) | |
| 3 | g.10142137C>T | CA351750876 | VHL | c.290C>T (p.Pro97Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142139_10142142del | CA913189504 | VHL | c.292_295del (p.Tyr98GlnfsTer18) c.292_295del (p.Tyr98GlnfsTer?) c.292_295del (p.Tyr98GlnfsTer19) | ClinVar dbSNP |
| 3 | g.10142137_10142149delinsCCTACCCAACGCT | CA1345066230 | VHL | c.290_302delinsCCTACCCAACGCT (p.Pro97=) | |
| 3 | g.10142138C>A | CA432420513 | VHL | c.291C>A (p.Pro97=) | dbSNP gnomAD v4 COSMIC |
| 3 | g.10142138C= | CA1345066242 | VHL | c.291C= (p.Pro97=) | |
| 3 | g.10142138C>G | CA70046209 | VHL | c.291C>G (p.Pro97=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10142138C>T | CA432420514 | VHL | c.291C>T (p.Pro97=) | ClinVar dbSNP COSMIC |
| 3 | g.10142138_10142139delinsAC | CA2740090907 | VHL | c.291_292delinsAC (p.Tyr98His) | ClinVar |
| 3 | g.10142138_10142149del | CA915941836 | VHL | c.291_302del (p.Tyr98_Leu101del) | ClinVar dbSNP |
| 3 | g.10142138_10142157del | CA645524819 | VHL | c.291_310del (p.Tyr98HisfsTer?) c.291_310del (p.Tyr98HisfsTer27) c.291_310del (p.Tyr98HisfsTer28) | COSMIC |
| 3 | g.10142139T>A | CA351750883 | VHL | c.292T>A (p.Tyr98Asn) | ClinVar dbSNP COSMIC |
| 3 | g.10142139T>C | CA020246 | VHL | c.292T>C (p.Tyr98His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142139T>G | CA351750880 | VHL | c.292T>G (p.Tyr98Asp) | COSMIC |
| 3 | g.10142139T= | CA1345066250 | VHL | c.292T= (p.Tyr98=) | |
| 3 | g.10142140del | CA432420516 | VHL | c.293del (p.Tyr98SerfsTer19) c.293del (p.Tyr98SerfsTer?) c.293del (p.Tyr98SerfsTer20) | COSMIC |
| 3 | g.10142140A= | CA1345066267 | VHL | c.293A= (p.Tyr98=) | |
| 3 | g.10142140A>C | CA279916 | VHL | c.293A>C (p.Tyr98Ser) | ClinVar dbSNP COSMIC |
| 3 | g.10142140A>G | CA357072 | VHL | c.293A>G (p.Tyr98Cys) | ClinVar dbSNP COSMIC |
| 3 | g.10142140A>T | CA351750888 | VHL | c.293A>T (p.Tyr98Phe) | COSMIC |
| 3 | g.10142140dup | CA357009 | VHL | c.293dup (p.Tyr98Ter) | ClinVar dbSNP |
| 3 | g.10142141C>A | CA351750889 | VHL | c.294C>A (p.Tyr98Ter) | gnomAD v4 COSMIC |
| 3 | g.10142141C= | CA1345066277 | VHL | c.294C= (p.Tyr98=) | |
| 3 | g.10142141C>G | CA16621910 | VHL | c.294C>G (p.Tyr98Ter) | ClinVar dbSNP COSMIC |
| 3 | g.10142141C>T | CA432420517 | VHL | c.294C>T (p.Tyr98=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142143dup | CA357055 | VHL | c.296dup (p.Thr100AsnfsTer?) | ClinVar dbSNP |
| 3 | g.10142143del | CA432420518 | VHL | c.296del (p.Pro99GlnfsTer18) c.296del (p.Pro99GlnfsTer?) c.296del (p.Pro99GlnfsTer19) | COSMIC COSMIC |
| 3 | g.10142143_10142155del | CA658655621 | VHL | c.296_308del (p.Pro99LeufsTer14) c.296_308del (p.Pro99LeufsTer?) c.296_308del (p.Pro99LeufsTer15) | |
| 3 | g.10142141_10142142insA | CA432420519 | VHL | c.294_295insA (p.Pro99ThrfsTer?) | |
| 3 | g.10142142C>A | CA351750899 | VHL | c.295C>A (p.Pro99Thr) | ClinVar dbSNP |
| 3 | g.10142142C= | CA1345066284 | VHL | c.295C= (p.Pro99=) | |
| 3 | g.10142142C>G | CA040169 | VHL | c.295C>G (p.Pro99Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142142C>T | CA351750914 | VHL | c.295C>T (p.Pro99Ser) | |
| 3 | g.10142143C>A | CA351750933 | VHL | c.296C>A (p.Pro99Gln) | gnomAD v4 |
| 3 | g.10142143C= | CA1345066288 | VHL | c.296C= (p.Pro99=) | |
| 3 | g.10142143C>G | CA351750938 | VHL | c.296C>G (p.Pro99Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142143C>T | CA351750942 | VHL | c.296C>T (p.Pro99Leu) | dbSNP gnomAD v4 COSMIC |
| 3 | g.10142143_10142144del | CA645524820 | VHL | c.296_297del (p.Pro99HisfsTer?) | COSMIC |
| 3 | g.10142145_10142146insACAA | CA645524821 | VHL | c.298_299insACAA (p.Thr100AsnfsTer?) | COSMIC |
| 3 | g.10142144A= | CA1345066299 | VHL | c.297A= (p.Pro99=) | |
| 3 | g.10142144A>C | CA432420520 | VHL | c.297A>C (p.Pro99=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10142144A>G | CA040180 | VHL | c.297A>G (p.Pro99=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142144A>T | CA432420521 | VHL | c.297A>T (p.Pro99=) | dbSNP gnomAD v4 |
| 3 | g.10142145dup | CA2573129737 | VHL | c.298dup (p.Thr100AsnfsTer?) | |
| 3 | g.10142145del | CA432420522 | VHL | c.298del (p.Thr100ArgfsTer17) c.298del (p.Thr100ArgfsTer?) c.298del (p.Thr100ArgfsTer18) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10142145A= | CA1345066308 | VHL | c.298A= (p.Thr100=) | |
| 3 | g.10142145A>C | CA351750966 | VHL | c.298A>C (p.Thr100Pro) | ClinVar dbSNP |
| 3 | g.10142145A>G | CA040192 | VHL | c.298A>G (p.Thr100Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142145A>T | CA351750953 | VHL | c.298A>T (p.Thr100Ser) | dbSNP |
| 3 | g.10142145_10142146del | CA645524822 | VHL | c.298_299del (p.Thr100AlafsTer?) | COSMIC |
| 3 | g.10142146C>A | CA351750982 | VHL | c.299C>A (p.Thr100Lys) | |
| 3 | g.10142146C= | CA1345066314 | VHL | c.299C= (p.Thr100=) | |
| 3 | g.10142146C>G | CA351750985 | VHL | c.299C>G (p.Thr100Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142146C>T | CA351750989 | VHL | c.299C>T (p.Thr100Met) | ClinVar dbSNP |
| 3 | g.10142147_10142148del | CA645524825 | VHL | c.300_301del (p.Leu101AlafsTer?) | COSMIC COSMIC |
| 3 | g.10142149_10142154del | CA645524824 | VHL | c.302_307del (p.Leu101_Pro102del) | COSMIC |
| 3 | g.10142147_10142165del | CA645524823 | VHL | c.300_318del (p.Leu101AlafsTer10) c.300_318del (p.Leu101AlafsTer?) c.300_318del (p.Leu101AlafsTer11) | COSMIC |
| 3 | g.10142146_10142147insT | CA645524827 | VHL | c.299_300insT (p.Leu101AlafsTer?) | COSMIC |
| 3 | g.10142147G>A | CA432420525 | VHL | c.300G>A (p.Thr100=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142147G>C | CA70046253 | VHL | c.300G>C (p.Thr100=) | dbSNP |
| 3 | g.10142147G= | CA1345066325 | VHL | c.300G= (p.Thr100=) | |
| 3 | g.10142147G>T | CA432420524 | VHL | c.300G>T (p.Thr100=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142147dup | CA357126 | VHL | c.300dup (p.Leu101AlafsTer?) | ClinVar dbSNP |
| 3 | g.10142147_10142148delinsT | CA645524826 | VHL | c.300_301delinsT (p.Leu101CysfsTer16) c.300_301delinsT (p.Leu101CysfsTer?) c.300_301delinsT (p.Leu101CysfsTer17) | COSMIC |
| 3 | g.10142149_10142151del | CA645524828 | VHL | c.302_304del (p.Leu101del) | COSMIC |
| 3 | g.10142147_10142148insT | CA432420526 | VHL | c.300_301insT (p.Leu101SerfsTer?) | |
| 3 | g.10142148C>A | CA351750993 | VHL | c.301C>A (p.Leu101Met) | |
| 3 | g.10142148C= | CA1345066331 | VHL | c.301C= (p.Leu101=) | |
| 3 | g.10142148C>G | CA351750994 | VHL | c.301C>G (p.Leu101Val) | |
| 3 | g.10142148C>T | CA040223 | VHL | c.301C>T (p.Leu101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142148_10142149delinsGG | CA915940707 | VHL | c.301_302delinsGG (p.Leu101Gly) | |
| 3 | g.10142149_10142152del | CA645524829 | VHL | c.302_305del (p.Leu101ArgfsTer15) c.302_305del (p.Leu101ArgfsTer?) c.302_305del (p.Leu101ArgfsTer16) | COSMIC |
| 3 | g.10142149T>A | CA351750997 | VHL | c.302T>A (p.Leu101Gln) | ClinVar dbSNP COSMIC |
| 3 | g.10142149T>C | CA351751000 | VHL | c.302T>C (p.Leu101Pro) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142149T>G | CA351751004 | VHL | c.302T>G (p.Leu101Arg) | ClinVar |
| 3 | g.10142149T= | CA1345066335 | VHL | c.302T= (p.Leu101=) | |
| 3 | g.10142150G>A | CA70046260 | VHL | c.303G>A (p.Leu101=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142150G>C | CA432420527 | VHL | c.303G>C (p.Leu101=) | dbSNP |
| 3 | g.10142150G= | CA1345066341 | VHL | c.303G= (p.Leu101=) | |
| 3 | g.10142150G>T | CA432420528 | VHL | c.303G>T (p.Leu101=) | gnomAD v4 |
| 3 | g.10142153_10142155del | CA645524832 | VHL | c.306_308del (p.Pro103del) | COSMIC |
| 3 | g.10142152_10142159del | CA645524831 | VHL | c.305_312del (p.Pro102HisfsTer?) c.305_312del (p.Pro102HisfsTer27) c.305_312del (p.Pro102HisfsTer28) | COSMIC |
| 3 | g.10142150_10142168del | CA645524830 | VHL | c.303_321del (p.Pro102AlafsTer9) c.303_321del (p.Pro102AlafsTer?) c.303_321del (p.Pro102AlafsTer10) | COSMIC |
| 3 | g.10142156_10142169del | CA645524833 | VHL | c.309_322del (p.Gly104HisfsTer?) c.309_322del (p.Gly104HisfsTer23) c.309_322del (p.Gly104HisfsTer24) | COSMIC |
| 3 | g.10142151C>A | CA351751018 | VHL | c.304C>A (p.Pro102Thr) | dbSNP gnomAD v4 |
| 3 | g.10142151C= | CA1345066348 | VHL | c.304C= (p.Pro102=) | |
| 3 | g.10142151C>G | CA351751037 | VHL | c.304C>G (p.Pro102Ala) | COSMIC |
| 3 | g.10142151C>T | CA040238 | VHL | c.304C>T (p.Pro102Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142152dup | CA2740090908 | VHL | c.305dup (p.Pro103AlafsTer?) c.305dup (p.Pro103AlafsTer29) c.305dup (p.Pro103AlafsTer30) | ClinVar |
| 3 | g.10142151_10142152dup | CA913189505 | VHL | c.304_305dup (p.Pro103ArgfsTer15) c.304_305dup (p.Pro103ArgfsTer?) c.304_305dup (p.Pro103ArgfsTer16) | ClinVar dbSNP |
| 3 | g.10142152del | CA658820710 | VHL | c.305del (p.Pro102ArgfsTer15) c.305del (p.Pro102ArgfsTer?) c.305del (p.Pro102ArgfsTer16) | |
| 3 | g.10142152C>A | CA351751060 | VHL | c.305C>A (p.Pro102Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142152C= | CA1345066355 | VHL | c.305C= (p.Pro102=) | |
| 3 | g.10142152C>G | CA351751062 | VHL | c.305C>G (p.Pro102Arg) | ClinVar gnomAD v4 |
| 3 | g.10142152C>T | CA351751047 | VHL | c.305C>T (p.Pro102Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142153del | CA432420531 | VHL | c.306del (p.Pro103LeufsTer14) c.306del (p.Pro103LeufsTer?) c.306del (p.Pro103LeufsTer15) | COSMIC |
| 3 | g.10142153G>A | CA70046262 | VHL | c.306G>A (p.Pro102=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10142153G>C | CA432420529 | VHL | c.306G>C (p.Pro102=) | |
| 3 | g.10142153G= | CA1345066362 | VHL | c.306G= (p.Pro102=) | |
| 3 | g.10142153G>T | CA432420530 | VHL | c.306G>T (p.Pro102=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142155_10142159del | CA645524834 | VHL | c.308_312del (p.Pro103HisfsTer?) c.308_312del (p.Pro103HisfsTer27) c.308_312del (p.Pro103HisfsTer28) | COSMIC |
| 3 | g.10142154C>A | CA351751071 | VHL | c.307C>A (p.Pro103Thr) | |
| 3 | g.10142154C= | CA1345066371 | VHL | c.307C= (p.Pro103=) | |
| 3 | g.10142154C>G | CA348715 | VHL | c.307C>G (p.Pro103Ala) | ClinVar dbSNP |
| 3 | g.10142154C>T | CA351751072 | VHL | c.307C>T (p.Pro103Ser) | ClinVar dbSNP |
| 3 | g.10142155del | CA432420532 | VHL | c.308del (p.Pro103LeufsTer14) c.308del (p.Pro103LeufsTer?) c.308del (p.Pro103LeufsTer15) | COSMIC |
| 3 | g.10142155C>A | CA351751075 | VHL | c.308C>A (p.Pro103His) | gnomAD v4 |
| 3 | g.10142155C= | CA1345066375 | VHL | c.308C= (p.Pro103=) | |
| 3 | g.10142155C>G | CA351751088 | VHL | c.308C>G (p.Pro103Arg) | |
| 3 | g.10142155C>T | CA351751083 | VHL | c.308C>T (p.Pro103Leu) | ClinVar dbSNP |
| 3 | g.10142155_10142156delinsCT | CA1345066374 | VHL | c.308_309delinsCT (p.Pro103=) | |
| 3 | g.10142156_10142161dup | CA645524835 | VHL | c.309_314dup (p.Thr105_Gly106insGlyThr) | COSMIC |
| 3 | g.10142156del | CA357031 | VHL | c.309del (p.Gly104AlafsTer13) c.309del (p.Gly104AlafsTer?) c.309del (p.Gly104AlafsTer14) | ClinVar dbSNP COSMIC |
| 3 | g.10142156T>A | CA432420533 | VHL | c.309T>A (p.Pro103=) | |
| 3 | g.10142156T>C | CA432420534 | VHL | c.309T>C (p.Pro103=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142156T>G | CA432420535 | VHL | c.309T>G (p.Pro103=) | |
| 3 | g.10142156T= | CA1345066384 | VHL | c.309T= (p.Pro103=) | |
| 3 | g.10142156dup | CA357059 | VHL | c.309dup (p.Gly104TrpfsTer?) c.309dup (p.Gly104TrpfsTer28) c.309dup (p.Gly104TrpfsTer29) | ClinVar dbSNP |
| 3 | g.10142156_10142157del | CA658795178 | VHL | c.309_310del (p.Gly104HisfsTer?) c.309_310del (p.Gly104HisfsTer27) c.309_310del (p.Gly104HisfsTer28) | |
| 3 | g.10142156_10142160del | CA645524836 | VHL | c.309_313del (p.Thr105ProfsTer?) c.309_313del (p.Thr105ProfsTer25) c.309_313del (p.Thr105ProfsTer26) | COSMIC |
| 3 | g.10142157_10142173del | CA645524837 | VHL | c.310_326del (p.Gly104ProfsTer?) c.310_326del (p.Gly104ProfsTer22) c.310_326del (p.Gly104ProfsTer23) | COSMIC |
| 3 | g.10142156_10142206delinsTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAG | CA1345066382 | VHL | c.309_340+19delinsTGGCACGGGCCGCCGCATCCACAGCTACCGAGGTACGGGCCCGGCGCTTAG | |
| 3 | g.10142157G>A | CA351751097 | VHL | c.310G>A (p.Gly104Ser) | dbSNP |
| 3 | g.10142157G>C | CA351751101 | VHL | c.310G>C (p.Gly104Arg) | dbSNP |
| 3 | g.10142157G>T | CA351751106 | VHL | c.310G>T (p.Gly104Cys) | |
| 3 | g.10142158del | CA432420536 | VHL | c.311del (p.Gly104AlafsTer13) c.311del (p.Gly104AlafsTer?) c.311del (p.Gly104AlafsTer14) | COSMIC COSMIC |
| 3 | g.10142158_10142167del | CA645524838 | VHL | c.311_320del (p.Gly104AlafsTer10) c.311_320del (p.Gly104AlafsTer?) c.311_320del (p.Gly104AlafsTer11) | COSMIC |
| 3 | g.10142158_10142207del | CA357118 | VHL | c.311_340+20del | ClinVar dbSNP |
| 3 | g.10142157_10142158insC | CA2740090909 | VHL | c.310_311insC (p.Gly104AlafsTer?) c.310_311insC (p.Gly104AlafsTer28) c.310_311insC (p.Gly104AlafsTer29) | ClinVar |
| 3 | g.10142158G>A | CA351751113 | VHL | c.311G>A (p.Gly104Asp) | dbSNP gnomAD v4 |
| 3 | g.10142158G>C | CA16611067 | VHL | c.311G>C (p.Gly104Ala) | ClinVar dbSNP |
| 3 | g.10142158G= | CA1345066392 | VHL | c.311G= (p.Gly104=) | |
| 3 | g.10142158G>T | CA357033 | VHL | c.311G>T (p.Gly104Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142159C>A | CA432420537 | VHL | c.312C>A (p.Gly104=) | dbSNP |
| 3 | g.10142159C= | CA1345066400 | VHL | c.312C= (p.Gly104=) | |
| 3 | g.10142159C>G | CA432420538 | VHL | c.312C>G (p.Gly104=) | |
| 3 | g.10142159C>T | CA70046276 | VHL | c.312C>T (p.Gly104=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142160_10142161dup | CA2586965665 | VHL | c.313_314dup (p.Gly106ArgfsTer12) c.313_314dup (p.Gly106ArgfsTer?) c.313_314dup (p.Gly106ArgfsTer13) | |
| 3 | g.10142162_10142177del | CA645524839 | VHL | c.315_330del (p.Gly106AlafsTer6) c.315_330del (p.Gly106AlafsTer?) c.315_330del (p.Gly106AlafsTer7) | COSMIC |
| 3 | g.10142160A= | CA1345066407 | VHL | c.313A= (p.Thr105=) | |
| 3 | g.10142160A>C | CA351751116 | VHL | c.313A>C (p.Thr105Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142160A>G | CA351751120 | VHL | c.313A>G (p.Thr105Ala) | ClinVar dbSNP |
| 3 | g.10142160A>T | CA351751121 | VHL | c.313A>T (p.Thr105Ser) | dbSNP |
| 3 | g.10142161del | CA432420540 | VHL | c.314del (p.Thr105ArgfsTer12) c.314del (p.Thr105ArgfsTer?) c.314del (p.Thr105ArgfsTer13) | COSMIC |
| 3 | g.10142161C>A | CA351751136 | VHL | c.314C>A (p.Thr105Lys) | COSMIC |
| 3 | g.10142161C= | CA1345066413 | VHL | c.314C= (p.Thr105=) | |
| 3 | g.10142161C>G | CA351751122 | VHL | c.314C>G (p.Thr105Arg) | dbSNP |
| 3 | g.10142161C>T | CA040253 | VHL | c.314C>T (p.Thr105Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10142161dup | CA2573136089 | VHL | c.314dup (p.Arg107ProfsTer?) c.314dup (p.Arg107ProfsTer25) c.314dup (p.Arg107ProfsTer26) | ClinVar dbSNP |
| 3 | g.10142162_10142163insCGGCCG | CA645524840 | VHL | c.315_316insCGGCCG (p.Thr105_Gly106insArgPro) | COSMIC |
| 3 | g.10142162G>A | CA16604755 | VHL | c.315G>A (p.Thr105=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142162G>C | CA040259 | VHL | c.315G>C (p.Thr105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142162G= | CA1345066423 | VHL | c.315G= (p.Thr105=) | |
| 3 | g.10142162G>T | CA432420549 | VHL | c.315G>T (p.Thr105=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142164del | CA432420551 | VHL | c.317del (p.Gly106AlafsTer11) c.317del (p.Gly106AlafsTer?) c.317del (p.Gly106AlafsTer12) | COSMIC COSMIC COSMIC |
| 3 | g.10142162_10142163insAC | CA2573130208 | VHL | c.315_316insAC (p.Gly106ThrfsTer12) c.315_316insAC (p.Gly106ThrfsTer?) c.315_316insAC (p.Gly106ThrfsTer13) | |
| 3 | g.10142163G>A | CA351751142 | VHL | c.316G>A (p.Gly106Ser) | gnomAD v4 |
| 3 | g.10142163G>C | CA351751155 | VHL | c.316G>C (p.Gly106Arg) | gnomAD v4 |
| 3 | g.10142163G>T | CA351751180 | VHL | c.316G>T (p.Gly106Cys) | gnomAD v4 |
| 3 | g.10142163_10142164insCCG | CA2586965667 | VHL | c.316_317insCCG (p.Thr105_Gly106insAla) | |
| 3 | g.10142163_10142166delinsGGCC | CA1345066429 | VHL | c.316_319delinsGGCC (p.Gly106=) | |
| 3 | g.10142164_10142170del | CA645524841 | VHL | c.317_323del (p.Gly106AlafsTer9) c.317_323del (p.Gly106AlafsTer?) c.317_323del (p.Gly106AlafsTer10) | COSMIC |
| 3 | g.10142163_10142164insA | CA2573102973 | VHL | c.316_317insA (p.Gly106GlufsTer?) c.316_317insA (p.Gly106GlufsTer26) c.316_317insA (p.Gly106GlufsTer27) | |
| 3 | g.10142164G>A | CA351751181 | VHL | c.317G>A (p.Gly106Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10142164G>C | CA351751182 | VHL | c.317G>C (p.Gly106Ala) | dbSNP COSMIC |
| 3 | g.10142164G= | CA1345066437 | VHL | c.317G= (p.Gly106=) | |
| 3 | g.10142164G>T | CA351751187 | VHL | c.317G>T (p.Gly106Val) | |
| 3 | g.10142169_10142171dup | CA916832608 | VHL | c.322_324dup (p.Arg108_Ile109insArg) | dbSNP |
| 3 | g.10142169_10142171del | CA645524842 | VHL | c.322_324del (p.Arg108del) | ClinVar dbSNP COSMIC |
| 3 | g.10142165C>A | CA432420568 | VHL | c.318C>A (p.Gly106=) | dbSNP |
| 3 | g.10142165C= | CA1345066441 | VHL | c.318C= (p.Gly106=) | |
| 3 | g.10142165C>G | CA432420566 | VHL | c.318C>G (p.Gly106=) | dbSNP |
| 3 | g.10142165C>T | CA432420562 | VHL | c.318C>T (p.Gly106=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142166del | CA432420564 | VHL | c.319del (p.Arg107AlafsTer10) c.319del (p.Arg107AlafsTer?) c.319del (p.Arg107AlafsTer11) | COSMIC |
| 3 | g.10142166C>A | CA351751190 | VHL | c.319C>A (p.Arg107Ser) | ClinVar |
| 3 | g.10142166C= | CA1345066447 | VHL | c.319C= (p.Arg107=) | |
| 3 | g.10142166C>G | CA020257 | VHL | c.319C>G (p.Arg107Gly) | ClinVar dbSNP COSMIC |
| 3 | g.10142166C>T | CA351751195 | VHL | c.319C>T (p.Arg107Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10142167_10142168dup | CA645524843 | VHL | c.320_321dup (p.Arg108AlafsTer10) c.320_321dup (p.Arg108AlafsTer?) c.320_321dup (p.Arg108AlafsTer11) | COSMIC |
| 3 | g.10142167del | CA432420583 | VHL | c.320del (p.Arg107ProfsTer10) c.320del (p.Arg107ProfsTer?) c.320del (p.Arg107ProfsTer11) | COSMIC |
| 3 | g.10142167G>A | CA357135 | VHL | c.320G>A (p.Arg107His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142167G>C | CA020262 | VHL | c.320G>C (p.Arg107Pro) | ClinVar dbSNP |
| 3 | g.10142167G= | CA1345066460 | VHL | c.320G= (p.Arg107=) | |
| 3 | g.10142167G>T | CA351751197 | VHL | c.320G>T (p.Arg107Leu) | dbSNP gnomAD v4 |
| 3 | g.10142167_10142168delinsCA | CA645524845 | VHL | c.320_321delinsCA (p.Arg107Pro) | COSMIC |
| 3 | g.10142167_10142170del | CA645524844 | VHL | c.320_323del (p.Arg107ProfsTer9) c.320_323del (p.Arg107ProfsTer?) c.320_323del (p.Arg107ProfsTer10) | COSMIC |
| 3 | g.10142168C>A | CA432420587 | VHL | c.321C>A (p.Arg107=) | |
| 3 | g.10142168C= | CA1345066466 | VHL | c.321C= (p.Arg107=) | |
| 3 | g.10142168C>G | CA432420589 | VHL | c.321C>G (p.Arg107=) | |
| 3 | g.10142168C>T | CA348868 | VHL | c.321C>T (p.Arg107=) | ClinVar dbSNP |
| 3 | g.10142169del | CA432420592 | VHL | c.322del (p.Arg108AlafsTer9) c.322del (p.Arg108AlafsTer?) c.322del (p.Arg108AlafsTer10) | COSMIC COSMIC |
| 3 | g.10142168_10142170delinsCCG | CA1345066469 | VHL | c.321_323delinsCCG (p.Arg107=) | |
| 3 | g.10142171_10142185del | CA645524846 | VHL | c.324_338del (p.Ile109_Arg113del) | COSMIC |
| 3 | g.10142168_10142169insTTCG | CA645524847 | VHL | c.321_322insTTCG (p.Arg108PhefsTer?) c.321_322insTTCG (p.Arg108PhefsTer25) c.321_322insTTCG (p.Arg108PhefsTer26) | COSMIC |
| 3 | g.10142169C>A | CA351751214 | VHL | c.322C>A (p.Arg108Ser) | |
| 3 | g.10142169C>G | CA351751217 | VHL | c.322C>G (p.Arg108Gly) | dbSNP |
| 3 | g.10142169C>T | CA351751224 | VHL | c.322C>T (p.Arg108Cys) | dbSNP gnomAD v4 |
| 3 | g.10142170_10142171del | CA916832609 | VHL | c.323_324del (p.Arg108HisfsTer?) c.323_324del (p.Arg108HisfsTer23) c.323_324del (p.Arg108HisfsTer24) | dbSNP |
| 3 | g.10142169_10142170insTG | CA2501548609 | VHL | c.322_323insTG (p.Arg108LeufsTer10) c.322_323insTG (p.Arg108LeufsTer?) c.322_323insTG (p.Arg108LeufsTer11) | |
| 3 | g.10142170G>A | CA040275 | VHL | c.323G>A (p.Arg108His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142170G>C | CA351751235 | VHL | c.323G>C (p.Arg108Pro) | dbSNP |
| 3 | g.10142170G= | CA1345066481 | VHL | c.323G= (p.Arg108=) | |
| 3 | g.10142170G>T | CA040290 | VHL | c.323G>T (p.Arg108Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142171del | CA432420609 | VHL | c.324del (p.Ile109SerfsTer8) c.324del (p.Ile109SerfsTer?) c.324del (p.Ile109SerfsTer9) | COSMIC |
| 3 | g.10142171C>A | CA432420604 | VHL | c.324C>A (p.Arg108=) | dbSNP COSMIC |
| 3 | g.10142171C= | CA1345066490 | VHL | c.324C= (p.Arg108=) | |
| 3 | g.10142171C>G | CA432420605 | VHL | c.324C>G (p.Arg108=) | |
| 3 | g.10142171C>T | CA10582114 | VHL | c.324C>T (p.Arg108=) | ClinVar dbSNP |
| 3 | g.10142172del | CA645524848 | VHL | c.325del (p.Ile109SerfsTer8) c.325del (p.Ile109SerfsTer?) c.325del (p.Ile109SerfsTer9) | COSMIC |
| 3 | g.10142172A= | CA1345066494 | VHL | c.325A= (p.Ile109=) | |
| 3 | g.10142172A>C | CA351751249 | VHL | c.325A>C (p.Ile109Leu) | dbSNP |
| 3 | g.10142172A>G | CA351751254 | VHL | c.325A>G (p.Ile109Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142172A>T | CA351751259 | VHL | c.325A>T (p.Ile109Phe) | |
| 3 | g.10142173_10142186dup | CA2573051018 | VHL | c.326_339dup (p.Val114SerfsTer8) c.326_339dup (p.Gly114SerfsTer?) c.326_339dup (p.Val114SerfsTer9) | |
| 3 | g.10142173del | CA658820709 | VHL | c.326del (p.Ile109ThrfsTer8) c.326del (p.Ile109ThrfsTer?) c.326del (p.Ile109ThrfsTer9) | |
| 3 | g.10142173T>A | CA020268 | VHL | c.326T>A (p.Ile109Asn) | ClinVar dbSNP |
| 3 | g.10142173T>C | CA351751268 | VHL | c.326T>C (p.Ile109Thr) | dbSNP |
| 3 | g.10142173T>G | CA351751265 | VHL | c.326T>G (p.Ile109Ser) | COSMIC |
| 3 | g.10142173T= | CA1345066497 | VHL | c.326T= (p.Ile109=) | |
| 3 | g.10142174C>A | CA432420621 | VHL | c.327C>A (p.Ile109=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142174C= | CA1345066498 | VHL | c.327C= (p.Ile109=) | |
| 3 | g.10142174C>G | CA351751282 | VHL | c.327C>G (p.Ile109Met) | ClinVar dbSNP |
| 3 | g.10142174C>T | CA336376 | VHL | c.327C>T (p.Ile109=) | ClinVar dbSNP |
| 3 | g.10142175del | CA432420626 | VHL | c.328del (p.His110ThrfsTer7) c.328del (p.His110ThrfsTer?) c.328del (p.His110ThrfsTer8) | gnomAD v4 COSMIC COSMIC |
| 3 | g.10142175_10142180del | CA645524849 | VHL | c.328_333del (p.His110_Ser111del) | COSMIC |
| 3 | g.10142175C>A | CA351751295 | VHL | c.328C>A (p.His110Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142175C= | CA1345066499 | VHL | c.328C= (p.His110=) | |
| 3 | g.10142175C>G | CA351751300 | VHL | c.328C>G (p.His110Asp) | |
| 3 | g.10142175C>T | CA70046309 | VHL | c.328C>T (p.His110Tyr) | dbSNP gnomAD v4 COSMIC |
| 3 | g.10142175_10142176delinsCA | CA1345066500 | VHL | c.328_329delinsCA (p.His110=) | |
| 3 | g.10142177_10142178dup | CA645524850 | VHL | c.330_331dup (p.Ser111ThrfsTer7) c.330_331dup (p.Ser111ThrfsTer?) c.330_331dup (p.Ser111ThrfsTer8) | COSMIC |
| 3 | g.10142175_10142178dup | CA645524851 | VHL | c.328_331dup (p.Ser111ThrfsTer?) c.328_331dup (p.Ser111ThrfsTer22) c.328_331dup (p.Ser111ThrfsTer23) | COSMIC |
| 3 | g.10142175_10142176insGCATCA | CA645524853 | VHL | c.328_329insGCATCA (p.His110delinsArgIleAsn) | COSMIC |
| 3 | g.10142176del | CA432420639 | VHL | c.329del (p.His110ProfsTer7) c.329del (p.His110ProfsTer?) c.329del (p.His110ProfsTer8) | ClinVar dbSNP COSMIC |
| 3 | g.10142176A>C | CA351751310 | VHL | c.329A>C (p.His110Pro) | dbSNP COSMIC |
| 3 | g.10142176A>G | CA351751314 | VHL | c.329A>G (p.His110Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142176A>T | CA351751315 | VHL | c.329A>T (p.His110Leu) | |
| 3 | g.10142176dup | CA432420637 | VHL | c.329dup (p.His110GlnfsTer?) c.329dup (p.His110GlnfsTer22) c.329dup (p.His110GlnfsTer23) | ClinVar COSMIC |
| 3 | g.10142178_10142183del | CA645524852 | VHL | c.331_336del (p.Ser111_Tyr112del) | COSMIC |
| 3 | g.10142177_10142186del | CA2573131809 | VHL | c.330_339del (p.His110GlnfsTer4) c.330_339del (p.His110GlnfsTer?) c.330_339del (p.His110GlnfsTer5) | |
| 3 | g.10142177del | CA432420646 | VHL | c.330del (p.His110GlnfsTer7) c.330del (p.His110GlnfsTer?) c.330del (p.His110GlnfsTer8) | COSMIC |
| 3 | g.10142177C>A | CA351751316 | VHL | c.330C>A (p.His110Gln) | dbSNP gnomAD v4 |
| 3 | g.10142177C= | CA1345066502 | VHL | c.330C= (p.His110=) | |
| 3 | g.10142177C>G | CA351751317 | VHL | c.330C>G (p.His110Gln) | ClinVar dbSNP COSMIC |
| 3 | g.10142177C>T | CA432420644 | VHL | c.330C>T (p.His110=) | ClinVar dbSNP |
| 3 | g.10142177_10142178delinsT | CA645524854 | VHL | c.330_331delinsT (p.Ser111AlafsTer6) c.330_331delinsT (p.Ser111AlafsTer?) c.330_331delinsT (p.Ser111AlafsTer7) | COSMIC |
| 3 | g.10142177_10142178delinsTT | CA2573106137 | VHL | c.330_331delinsTT (p.Ser111Cys) | ClinVar |
| 3 | g.10142177_10142180del | CA645524855 | VHL | c.330_333del (p.Ser111ThrfsTer5) c.330_333del (p.Ser111ThrfsTer?) c.330_333del (p.Ser111ThrfsTer6) | COSMIC |
| 3 | g.10142178del | CA432420649 | VHL | c.331del (p.Ser111AlafsTer6) c.331del (p.Ser111AlafsTer?) c.331del (p.Ser111AlafsTer7) | COSMIC |
| 3 | g.10142178A= | CA1345066512 | VHL | c.331A= (p.Ser111=) | |
| 3 | g.10142178A>C | CA351751320 | VHL | c.331A>C (p.Ser111Arg) | ClinVar COSMIC |
| 3 | g.10142178A>G | CA351751321 | VHL | c.331A>G (p.Ser111Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142178A>T | CA351751322 | VHL | c.331A>T (p.Ser111Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142178_10142187del | CA645524856 | VHL | c.331_340del (p.Tyr112SerfsTer2) c.331_340del (p.Ser111ValfsTer?) c.331_340del (p.Ser111CysfsTer4) | COSMIC |