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.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.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del | |
| 3 | g.10143181_10152298del | CA2499216371 | VHL | c.340+994_*2333del c.*17+160_*2529del | ClinVar |
| 3 | g.10145108_10153342del | CA2499216377 | VHL | c.341-1406_*3377del c.*17+2087_*3573del c.340+2921_*3377del | ClinVar |
| 3 | g.10145132_10153366del | CA2499216378 | VHL | c.341-1382_*3401del c.*17+2111_*3597del c.340+2945_*3401del | ClinVar |
| 3 | g.10145585_10153156del | CA2499216380 | VHL | c.341-929_*3191del c.*17+2564_*3387del c.340+3398_*3191del | ClinVar |
| 3 | g.10146465_10152780del | CA2499216382 | VHL | c.341-49_*2815del c.*18-3322_*3011del c.341-3322_*2815del | ClinVar |
| 3 | g.10146480_10149909del | CA2581463488 | VHL | c.*18-34_*263del c.600-3307_722del c.341-34_697del c.341-34_586del c.341-3307_463del n.477-34_722del c.*18-3307_*140del | |
| 3 | g.10146514_10149967del | CA1139532108 | VHL | c.*18_*321del c.600-3273_780del c.341_*2del c.341-3273_*2del n.477_780del c.*18-3273_*198del | |
| 3 | g.10147075_10150956del | CA2499216384 | VHL | c.*140+439_*1310del c.600-2712_1769del c.463+439_*991del c.341-2712_*991del c.*18-2712_*1187del | ClinVar |
| 3 | g.10147644_10152768del | CA2499216385 | VHL | c.463+1008_*2803del c.*18-2143_*2999del c.341-2143_*2803del | ClinVar |
| 3 | g.10148440_10158273del | CA2499216386 | ClinVar | ||
| 3 | g.10148566_10158401del | CA2499216387 | ClinVar | ||
| 3 | g.10148561_10152736del | CA2499216388 | VHL | c.464-143_*2771del c.464-1226_*2771del c.*18-1226_*2967del c.341-1226_*2771del | ClinVar |
| 3 | g.10148615_10158450del | CA2499216389 | ClinVar | ||
| 3 | g.10149784_10149788del | CA645525020 | VHL | c.*141-3_*142del c.600-3_601del c.575-3_576del c.464-3_465del c.341-3_342del n.600-3_601del c.*18-3_*19del | COSMIC |
| 3 | g.10149785del | CA2586965655 | VHL | c.*141-2del (n.*141-2del) c.600-2del (n.600-2del) c.575-2del (n.575-2del) c.464-2del (n.464-2del) c.341-2del (n.341-2del) n.600-2del c.*18-2del (n.*18-2del) | |
| 3 | g.10149785A= | CA1345062118 | VHL | c.*141-2A= (n.*141-2A=) c.600-2A= (n.600-2A=) c.575-2A= (n.575-2A=) c.464-2A= (n.464-2A=) c.341-2A= (n.341-2A=) n.600-2A= c.*18-2A= (n.*18-2A=) | |
| 3 | g.10149785A>C | CA351756024 | VHL | c.*141-2A>C (n.*141-2A>C) c.600-2A>C (n.600-2A>C) c.575-2A>C (n.575-2A>C) c.464-2A>C (n.464-2A>C) c.341-2A>C (n.341-2A>C) n.600-2A>C c.*18-2A>C (n.*18-2A>C) | ClinVar COSMIC |
| 3 | g.10149785A>G | CA357046 | VHL | c.*141-2A>G (n.*141-2A>G) c.600-2A>G (n.600-2A>G) c.575-2A>G (n.575-2A>G) c.464-2A>G (n.464-2A>G) c.341-2A>G (n.341-2A>G) n.600-2A>G c.*18-2A>G (n.*18-2A>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149785A>T | CA70052157 | VHL | c.*141-2A>T (n.*141-2A>T) c.600-2A>T (n.600-2A>T) c.575-2A>T (n.575-2A>T) c.464-2A>T (n.464-2A>T) c.341-2A>T (n.341-2A>T) n.600-2A>T c.*18-2A>T (n.*18-2A>T) | dbSNP |
| 3 | g.10149785_10149788del | CA645525024 | VHL | c.*141-2_*142del c.600-2_601del c.575-2_576del c.464-2_465del c.341-2_342del n.600-2_601del c.*18-2_*19del | COSMIC |
| 3 | g.10149785_10149792del | CA645525026 | VHL | c.*141-2_*146del c.600-2_605del c.575-2_580del c.464-2_469del c.341-2_346del n.600-2_605del c.*18-2_*23del | COSMIC |
| 3 | g.10149786_10149792del | CA645525023 | VHL | c.*141-1_*146del c.600-1_605del c.575-1_580del c.464-1_469del c.341-1_346del n.600-1_605del c.*18-1_*23del | COSMIC |
| 3 | g.10149787_10149801del | CA645525022 | VHL | c.*141_*155del c.600_614del c.575_589del c.464_478del c.341_355del n.600_614del c.*18_*32del | COSMIC |
| 3 | g.10149787_10149803del | CA2580068476 | VHL | c.*141_*157del c.600_616del c.575_591del c.464_480del c.341_357del n.600_616del c.*18_*34del | ClinVar |
| 3 | g.10149786del | CA645525028 | VHL | c.*141-1del (n.*141-1del) c.600-1del (n.600-1del) c.575-1del (n.575-1del) c.464-1del (n.464-1del) c.341-1del (n.341-1del) n.600-1del c.*18-1del (n.*18-1del) | COSMIC |
| 3 | g.10149786G>A | CA020389 | VHL | c.*141-1G>A (n.*141-1G>A) c.600-1G>A (n.600-1G>A) c.575-1G>A (n.575-1G>A) c.464-1G>A (n.464-1G>A) c.341-1G>A (n.341-1G>A) n.600-1G>A c.*18-1G>A (n.*18-1G>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149786G>C | CA357081 | VHL | c.*141-1G>C (n.*141-1G>C) c.600-1G>C (n.600-1G>C) c.575-1G>C (n.575-1G>C) c.464-1G>C (n.464-1G>C) c.341-1G>C (n.341-1G>C) n.600-1G>C c.*18-1G>C (n.*18-1G>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149786G= | CA1345062124 | VHL | c.*141-1G= (n.*141-1G=) c.600-1G= (n.600-1G=) c.575-1G= (n.575-1G=) c.464-1G= (n.464-1G=) c.341-1G= (n.341-1G=) n.600-1G= c.*18-1G= (n.*18-1G=) | |
| 3 | g.10149786G>T | CA357144 | VHL | c.*141-1G>T (n.*141-1G>T) c.600-1G>T (n.600-1G>T) c.575-1G>T (n.575-1G>T) c.464-1G>T (n.464-1G>T) c.341-1G>T (n.341-1G>T) n.600-1G>T c.*18-1G>T (n.*18-1G>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149786_10149794del | CA645525027 | VHL | c.*141-1_*148del c.600-1_607del c.575-1_582del c.464-1_471del c.341-1_348del n.600-1_607del c.*18-1_*25del | COSMIC |
| 3 | g.10149787_10149797del | CA645525029 | VHL | c.*141_*151del c.600_610del c.575_585del c.464_474del c.341_351del n.600_610del c.*18_*28del | COSMIC |
| 3 | g.10149787del | CA432423035 | VHL | c.*141del (n.*141del) c.600del (n.600del) c.575del (p.Val192GlyfsTer4) c.464del (p.Val155GlyfsTer4) c.341del (p.Val114GlyfsTer4) n.600del c.*18del (n.*18del) | COSMIC |
| 3 | g.10149787T>A | CA351756032 | VHL | c.*141T>A (n.*141T>A) c.600T>A (n.600T>A) c.575T>A (p.Val192Glu) c.464T>A (p.Val155Glu) c.341T>A (p.Val114Glu) n.600T>A c.*18T>A (n.*18T>A) | dbSNP |
| 3 | g.10149787T>C | CA351756034 | VHL | c.*141T>C (n.*141T>C) c.600T>C (n.600T>C) c.575T>C (p.Val192Ala) c.464T>C (p.Val155Ala) c.341T>C (p.Val114Ala) n.600T>C c.*18T>C (n.*18T>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149787T>G | CA16621938 | VHL | c.*141T>G (n.*141T>G) c.600T>G (n.600T>G) c.575T>G (p.Val192Gly) c.464T>G (p.Val155Gly) c.341T>G (p.Val114Gly) n.600T>G c.*18T>G (n.*18T>G) | ClinVar dbSNP |
| 3 | g.10149787_10149788delinsAC | CA645525030 | VHL | c.*141_*142delinsAC (n.*141_*142delinsAC) c.600_601delinsAC (n.600_601delinsAC) c.575_576delinsAC (p.Val192Asp) c.464_465delinsAC (p.Val155Asp) c.341_342delinsAC (p.Val114Asp) n.600_601delinsAC c.*18_*19delinsAC (n.*18_*19delinsAC) | COSMIC |
| 3 | g.10149787_10149788delinsGC | CA645525031 | VHL | c.*141_*142delinsGC (n.*141_*142delinsGC) c.600_601delinsGC (n.600_601delinsGC) c.575_576delinsGC (p.Val192Gly) c.464_465delinsGC (p.Val155Gly) c.341_342delinsGC (p.Val114Gly) n.600_601delinsGC c.*18_*19delinsGC (n.*18_*19delinsGC) | COSMIC |
| 3 | g.10149787_10149791del | CA2499306942 | VHL | c.*141_*145del (n.*141_*145del) c.600_604del (n.600_604del) c.575_579del (p.Val192AspfsTer17) c.464_468del (p.Val155AspfsTer17) c.341_345del (p.Val114AspfsTer17) n.600_604del c.*18_*22del (n.*18_*22del) | |
| 3 | g.10149787_10149965del | CA2580612129 | VHL | c.*141_*319del (n.*141_*319del) c.600_778del (n.600_778del) c.575_753del (p.Val192GlufsTer?) c.464_642del (p.Val155GlufsTer?) c.341_519del (p.Val114GlufsTer?) n.600_778del c.*18_*196del (n.*18_*196del) | |
| 3 | g.10149788G>A | CA432423036 | VHL | c.*142G>A (n.*142G>A) c.601G>A (n.601G>A) c.576G>A (p.Val192=) c.465G>A (p.Val155=) c.342G>A (p.Val114=) n.601G>A c.*19G>A (n.*19G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149788G>C | CA432423045 | VHL | c.*142G>C (n.*142G>C) c.601G>C (n.601G>C) c.576G>C (p.Val192=) c.465G>C (p.Val155=) c.342G>C (p.Val114=) n.601G>C c.*19G>C (n.*19G>C) | dbSNP |
| 3 | g.10149788G= | CA1345062130 | VHL | c.*142G= (n.*142G=) c.601G= (n.601G=) c.576G= (p.Val192=) c.465G= (p.Val155=) c.342G= (p.Val114=) n.601G= c.*19G= (n.*19G=) | |
| 3 | g.10149788G>T | CA432423038 | VHL | c.*142G>T (n.*142G>T) c.601G>T (n.601G>T) c.576G>T (p.Val192=) c.465G>T (p.Val155=) c.342G>T (p.Val114=) n.601G>T c.*19G>T (n.*19G>T) | ClinVar dbSNP |
| 3 | g.10149788_10149793del | CA16621939 | VHL | c.*142_*147del (n.*142_*147del) c.601_606del (n.601_606del) c.576_581del (p.Tyr193_Thr194del) c.465_470del (p.Tyr156_Thr157del) c.342_347del (p.Tyr115_Thr116del) n.601_606del c.*19_*24del (n.*19_*24del) | |
| 3 | g.10149788_10149789insA | CA645525032 | VHL | c.*142_*143insA (n.*142_*143insA) c.601_602insA (n.601_602insA) c.576_577insA (p.Tyr193IlefsTer18) c.465_466insA (p.Tyr156IlefsTer18) c.342_343insA (p.Tyr115IlefsTer18) n.601_602insA c.*19_*20insA (n.*19_*20insA) | COSMIC |
| 3 | g.10149789T>A | CA351756038 | VHL | c.*143T>A (n.*143T>A) c.602T>A (n.602T>A) c.577T>A (p.Tyr193Asn) c.466T>A (p.Tyr156Asn) c.343T>A (p.Tyr115Asn) n.602T>A c.*20T>A (n.*20T>A) | dbSNP |
| 3 | g.10149789T>C | CA351756040 | VHL | c.*143T>C (n.*143T>C) c.602T>C (n.602T>C) c.577T>C (p.Tyr193His) c.466T>C (p.Tyr156His) c.343T>C (p.Tyr115His) n.602T>C c.*20T>C (n.*20T>C) | |
| 3 | g.10149789T>G | CA351756043 | VHL | c.*143T>G (n.*143T>G) c.602T>G (n.602T>G) c.577T>G (p.Tyr193Asp) c.466T>G (p.Tyr156Asp) c.343T>G (p.Tyr115Asp) n.602T>G c.*20T>G (n.*20T>G) | dbSNP COSMIC |
| 3 | g.10149791_10149792dup | CA645525034 | VHL | c.*145_*146dup (n.*145_*146dup) c.604_605dup (n.604_605dup) c.579_580dup (p.Thr194IlefsTer3) c.468_469dup (p.Thr157IlefsTer3) c.345_346dup (p.Thr116IlefsTer3) n.604_605dup c.*22_*23dup (n.*22_*23dup) | COSMIC |
| 3 | g.10149791_10149792del | CA645525033 | VHL | c.*145_*146del (n.*145_*146del) c.604_605del (n.604_605del) c.579_580del (p.Thr194SerfsTer16) c.468_469del (p.Thr157SerfsTer16) c.345_346del (p.Thr116SerfsTer16) n.604_605del c.*22_*23del (n.*22_*23del) | COSMIC COSMIC |
| 3 | g.10149790del | CA432423055 | VHL | c.*144del (n.*144del) c.603del (n.603del) c.578del (p.Tyr193LeufsTer3) c.467del (p.Tyr156LeufsTer3) c.344del (p.Tyr115LeufsTer3) n.603del c.*21del (n.*21del) | COSMIC |
| 3 | g.10149790A= | CA1345062134 | VHL | c.*144A= (n.*144A=) c.603A= (n.603A=) c.578A= (p.Tyr193=) c.467A= (p.Tyr156=) c.344A= (p.Tyr115=) n.603A= c.*21A= (n.*21A=) | |
| 3 | g.10149790A>C | CA351756049 | VHL | c.*144A>C (n.*144A>C) c.603A>C (n.603A>C) c.578A>C (p.Tyr193Ser) c.467A>C (p.Tyr156Ser) c.344A>C (p.Tyr115Ser) n.603A>C c.*21A>C (n.*21A>C) | |
| 3 | g.10149790A>G | CA020394 | VHL | c.*144A>G (n.*144A>G) c.603A>G (n.603A>G) c.578A>G (p.Tyr193Cys) c.467A>G (p.Tyr156Cys) c.344A>G (p.Tyr115Cys) n.603A>G c.*21A>G (n.*21A>G) | ClinVar dbSNP |
| 3 | g.10149790A>T | CA351756047 | VHL | c.*144A>T (n.*144A>T) c.603A>T (n.603A>T) c.578A>T (p.Tyr193Phe) c.467A>T (p.Tyr156Phe) c.344A>T (p.Tyr115Phe) n.603A>T c.*21A>T (n.*21A>T) | dbSNP |
| 3 | g.10149790dup | CA645525036 | VHL | c.*144dup (n.*144dup) c.603dup (n.603dup) c.578dup (p.Tyr193Ter) c.467dup (p.Tyr156Ter) c.344dup (p.Tyr115Ter) n.603dup c.*21dup (n.*21dup) | COSMIC |
| 3 | g.10149791_10149799del | CA645525035 | VHL | c.*145_*153del (n.*145_*153del) c.604_612del (n.604_612del) c.579_587del (p.Tyr193Ter) c.468_476del (p.Tyr156Ter) c.345_353del (p.Tyr115Ter) n.604_612del c.*22_*30del (n.*22_*30del) | COSMIC |
| 3 | g.10149791T>A | CA351756051 | VHL | c.*145T>A (n.*145T>A) c.604T>A (n.604T>A) c.579T>A (p.Tyr193Ter) c.468T>A (p.Tyr156Ter) c.345T>A (p.Tyr115Ter) n.604T>A c.*22T>A (n.*22T>A) | dbSNP COSMIC |
| 3 | g.10149791T>C | CA432423062 | VHL | c.*145T>C (n.*145T>C) c.604T>C (n.604T>C) c.579T>C (p.Tyr193=) c.468T>C (p.Tyr156=) c.345T>C (p.Tyr115=) n.604T>C c.*22T>C (n.*22T>C) | dbSNP |
| 3 | g.10149791T>G | CA351756053 | VHL | c.*145T>G (n.*145T>G) c.604T>G (n.604T>G) c.579T>G (p.Tyr193Ter) c.468T>G (p.Tyr156Ter) c.345T>G (p.Tyr115Ter) n.604T>G c.*22T>G (n.*22T>G) | dbSNP COSMIC |
| 3 | g.10149791T= | CA1345062139 | VHL | c.*145T= (n.*145T=) c.604T= (n.604T=) c.579T= (p.Tyr193=) c.468T= (p.Tyr156=) c.345T= (p.Tyr115=) n.604T= c.*22T= (n.*22T=) | |
| 3 | g.10149791_10149794del | CA645525037 | VHL | c.*145_*148del (n.*145_*148del) c.604_607del (n.604_607del) c.579_582del (p.Thr194Ter) c.468_471del (p.Thr157Ter) c.345_348del (p.Thr116Ter) n.604_607del c.*22_*25del (n.*22_*25del) | COSMIC |
| 3 | g.10149792del | CA432423066 | VHL | c.*146del (n.*146del) c.605del (n.605del) c.580del (p.Thr194LeufsTer2) c.469del (p.Thr157LeufsTer2) c.346del (p.Thr116LeufsTer2) n.605del c.*23del (n.*23del) | COSMIC |
| 3 | g.10149792A= | CA1345062141 | VHL | c.*146A= (n.*146A=) c.605A= (n.605A=) c.580A= (p.Thr194=) c.469A= (p.Thr157=) c.346A= (p.Thr116=) n.605A= c.*23A= (n.*23A=) | |
| 3 | g.10149792A>C | CA351756055 | VHL | c.*146A>C (n.*146A>C) c.605A>C (n.605A>C) c.580A>C (p.Thr194Pro) c.469A>C (p.Thr157Pro) c.346A>C (p.Thr116Pro) n.605A>C c.*23A>C (n.*23A>C) | dbSNP |
| 3 | g.10149792A>G | CA351756056 | VHL | c.*146A>G (n.*146A>G) c.605A>G (n.605A>G) c.580A>G (p.Thr194Ala) c.469A>G (p.Thr157Ala) c.346A>G (p.Thr116Ala) n.605A>G c.*23A>G (n.*23A>G) | dbSNP |
| 3 | g.10149792A>T | CA351756058 | VHL | c.*146A>T (n.*146A>T) c.605A>T (n.605A>T) c.580A>T (p.Thr194Ser) c.469A>T (p.Thr157Ser) c.346A>T (p.Thr116Ser) n.605A>T c.*23A>T (n.*23A>T) | dbSNP |
| 3 | g.10149792dup | CA432423070 | VHL | c.*146dup (n.*146dup) c.605dup (n.605dup) c.580dup (p.Thr194AsnfsTer17) c.469dup (p.Thr157AsnfsTer17) c.346dup (p.Thr116AsnfsTer17) n.605dup c.*23dup (n.*23dup) | |
| 3 | g.10149792_10149800del | CA645525038 | VHL | c.*146_*154del (n.*146_*154del) c.605_613del (n.605_613del) c.580_588del (p.Thr194_Lys196del) c.469_477del (p.Thr157_Lys159del) c.346_354del (p.Thr116_Lys118del) n.605_613del c.*23_*31del (n.*23_*31del) | COSMIC |
| 3 | g.10149792_10149800delinsT | CA645525040 | VHL | c.*146_*154delinsT (n.*146_*154delinsT) c.605_613delinsT (n.605_613delinsT) c.580_588delinsT (p.Thr194Ter) c.469_477delinsT (p.Thr157Ter) c.346_354delinsT (p.Thr116Ter) n.605_613delinsT c.*23_*31delinsT (n.*23_*31delinsT) | COSMIC |
| 3 | g.10149793_10149800del | CA645525039 | VHL | c.*147_*154del (n.*147_*154del) c.606_613del (n.606_613del) c.581_588del (p.Thr194ArgfsTer14) c.470_477del (p.Thr157ArgfsTer14) c.347_354del (p.Thr116ArgfsTer14) n.606_613del c.*24_*31del (n.*24_*31del) | COSMIC |
| 3 | g.10149793C>A | CA351756061 | VHL | c.*147C>A (n.*147C>A) c.606C>A (n.606C>A) c.581C>A (p.Thr194Asn) c.470C>A (p.Thr157Asn) c.347C>A (p.Thr116Asn) n.606C>A c.*24C>A (n.*24C>A) | dbSNP |
| 3 | g.10149793C= | CA1345062145 | VHL | c.*147C= (n.*147C=) c.606C= (n.606C=) c.581C= (p.Thr194=) c.470C= (p.Thr157=) c.347C= (p.Thr116=) n.606C= c.*24C= (n.*24C=) | |
| 3 | g.10149793C>G | CA351756065 | VHL | c.*147C>G (n.*147C>G) c.606C>G (n.606C>G) c.581C>G (p.Thr194Ser) c.470C>G (p.Thr157Ser) c.347C>G (p.Thr116Ser) n.606C>G c.*24C>G (n.*24C>G) | dbSNP gnomAD v4 |
| 3 | g.10149793C>T | CA357133 | VHL | c.*147C>T (n.*147C>T) c.606C>T (n.606C>T) c.581C>T (p.Thr194Ile) c.470C>T (p.Thr157Ile) c.347C>T (p.Thr116Ile) n.606C>T c.*24C>T (n.*24C>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149795_10149796del | CA645525042 | VHL | c.*149_*150del (n.*149_*150del) c.608_609del (n.608_609del) c.583_584del (p.Leu195GlufsTer15) c.472_473del (p.Leu158GlufsTer15) c.349_350del (p.Leu117GlufsTer15) n.608_609del c.*26_*27del (n.*26_*27del) | COSMIC |
| 3 | g.10149793_10149799delinsT | CA645525041 | VHL | c.*147_*153delinsT (n.*147_*153delinsT) c.606_612delinsT (n.606_612delinsT) c.581_587delinsT (p.Thr194_Lys196delinsIle) c.470_476delinsT (p.Thr157_Lys159delinsIle) c.347_353delinsT (p.Thr116_Lys118delinsIle) n.606_612delinsT c.*24_*30delinsT (n.*24_*30delinsT) | COSMIC |
| 3 | g.10149793_10149794insA | CA645525043 | VHL | c.*147_*148insA (n.*147_*148insA) c.606_607insA (n.606_607insA) c.581_582insA (p.Leu195SerfsTer16) c.470_471insA (p.Leu158SerfsTer16) c.347_348insA (p.Leu117SerfsTer16) n.606_607insA c.*24_*25insA (n.*24_*25insA) | COSMIC |
| 3 | g.10149794del | CA432423082 | VHL | c.*148del (n.*148del) c.607del (n.607del) c.582del (p.Leu195Ter) c.471del (p.Leu158Ter) c.348del (p.Leu117Ter) n.607del c.*25del (n.*25del) | COSMIC |
| 3 | g.10149794T>A | CA432423078 | VHL | c.*148T>A (n.*148T>A) c.607T>A (n.607T>A) c.582T>A (p.Thr194=) c.471T>A (p.Thr157=) c.348T>A (p.Thr116=) n.607T>A c.*25T>A (n.*25T>A) | dbSNP COSMIC |
| 3 | g.10149794T>C | CA432423079 | VHL | c.*148T>C (n.*148T>C) c.607T>C (n.607T>C) c.582T>C (p.Thr194=) c.471T>C (p.Thr157=) c.348T>C (p.Thr116=) n.607T>C c.*25T>C (n.*25T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149794T>G | CA432423080 | VHL | c.*148T>G (n.*148T>G) c.607T>G (n.607T>G) c.582T>G (p.Thr194=) c.471T>G (p.Thr157=) c.348T>G (p.Thr116=) n.607T>G c.*25T>G (n.*25T>G) | |
| 3 | g.10149794T= | CA1345062152 | VHL | c.*148T= (n.*148T=) c.607T= (n.607T=) c.582T= (p.Thr194=) c.471T= (p.Thr157=) c.348T= (p.Thr116=) n.607T= c.*25T= (n.*25T=) | |
| 3 | g.10149794dup | CA357050 | VHL | c.*148dup (n.*148dup) c.607dup (n.607dup) c.582dup (p.Leu195SerfsTer16) c.471dup (p.Leu158SerfsTer16) c.348dup (p.Leu117SerfsTer16) n.607dup c.*25dup (n.*25dup) | ClinVar dbSNP COSMIC |
| 3 | g.10149796_10149821dup | CA645525044 | VHL | c.*150_*175dup (n.*150_*175dup) c.609_634dup (n.609_634dup) c.584_609dup (p.Arg204Ter) c.473_498dup (p.Arg167Ter) c.350_375dup (p.Arg126Ter) n.609_634dup c.*27_*52dup (n.*27_*52dup) | COSMIC |
| 3 | g.10149794_10149795insA | CA432423084 | VHL | c.*148_*149insA (n.*148_*149insA) c.607_608insA (n.607_608insA) c.582_583insA (p.Leu195ThrfsTer16) c.471_472insA (p.Leu158ThrfsTer16) c.348_349insA (p.Leu117ThrfsTer16) n.607_608insA c.*25_*26insA (n.*25_*26insA) | |
| 3 | g.10149795del | CA432423085 | VHL | c.*149del (n.*149del) c.608del (n.608del) c.583del (p.Leu195Ter) c.472del (p.Leu158Ter) c.349del (p.Leu117Ter) n.608del c.*26del (n.*26del) | COSMIC |
| 3 | g.10149795C>A | CA351756066 | VHL | c.*149C>A (n.*149C>A) c.608C>A (n.608C>A) c.583C>A (p.Leu195Met) c.472C>A (p.Leu158Met) c.349C>A (p.Leu117Met) n.608C>A c.*26C>A (n.*26C>A) | |
| 3 | g.10149795C= | CA1345062162 | VHL | c.*149C= (n.*149C=) c.608C= (n.608C=) c.583C= (p.Leu195=) c.472C= (p.Leu158=) c.349C= (p.Leu117=) n.608C= c.*26C= (n.*26C=) | |
| 3 | g.10149795C>G | CA351756068 | VHL | c.*149C>G (n.*149C>G) c.608C>G (n.608C>G) c.583C>G (p.Leu195Val) c.472C>G (p.Leu158Val) c.349C>G (p.Leu117Val) n.608C>G c.*26C>G (n.*26C>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149795C>T | CA432423088 | VHL | c.*149C>T (n.*149C>T) c.608C>T (n.608C>T) c.583C>T (p.Leu195=) c.472C>T (p.Leu158=) c.349C>T (p.Leu117=) n.608C>T c.*26C>T (n.*26C>T) | dbSNP |
| 3 | g.10149795_10149800del | CA645525045 | VHL | c.*149_*154del (n.*149_*154del) c.608_613del (n.608_613del) c.583_588del (p.Leu195_Lys196del) c.472_477del (p.Leu158_Lys159del) c.349_354del (p.Leu117_Lys118del) n.608_613del c.*26_*31del (n.*26_*31del) | COSMIC |
| 3 | g.10149795_10149813del | CA645525046 | VHL | c.*149_*167del (n.*149_*167del) c.608_626del (n.608_626del) c.583_601del (p.Leu195ArgfsTer6) c.472_490del (p.Leu158ArgfsTer6) c.349_367del (p.Leu117ArgfsTer6) n.608_626del c.*26_*44del (n.*26_*44del) | COSMIC |
| 3 | g.10149796del | CA432423094 | VHL | c.*150del (n.*150del) c.609del (n.609del) c.584del (p.Leu195ArgfsTer12) c.473del (p.Leu158ArgfsTer12) c.350del (p.Leu117ArgfsTer12) n.609del c.*27del (n.*27del) | COSMIC |
| 3 | g.10149796T>A | CA16602515 | VHL | c.*150T>A (n.*150T>A) c.609T>A (n.609T>A) c.584T>A (p.Leu195Gln) c.473T>A (p.Leu158Gln) c.350T>A (p.Leu117Gln) n.609T>A c.*27T>A (n.*27T>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149796T>C | CA020399 | VHL | c.*150T>C (n.*150T>C) c.609T>C (n.609T>C) c.584T>C (p.Leu195Pro) c.473T>C (p.Leu158Pro) c.350T>C (p.Leu117Pro) n.609T>C c.*27T>C (n.*27T>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149796T>G | CA351756074 | VHL | c.*150T>G (n.*150T>G) c.609T>G (n.609T>G) c.584T>G (p.Leu195Arg) c.473T>G (p.Leu158Arg) c.350T>G (p.Leu117Arg) n.609T>G c.*27T>G (n.*27T>G) | COSMIC |
| 3 | g.10149796T= | CA1345062168 | VHL | c.*150T= (n.*150T=) c.609T= (n.609T=) c.584T= (p.Leu195=) c.473T= (p.Leu158=) c.350T= (p.Leu117=) n.609T= c.*27T= (n.*27T=) | |
| 3 | g.10149796_10149797insTTT | CA2573320246 | VHL | c.*150_*151insTTT (n.*150_*151insTTT) c.609_610insTTT (n.609_610insTTT) c.584_585insTTT (p.Leu195_Lys196insLeu) c.473_474insTTT (p.Leu158_Lys159insLeu) c.350_351insTTT (p.Leu117_Lys118insLeu) n.609_610insTTT c.*27_*28insTTT (n.*27_*28insTTT) | |
| 3 | g.10149796dup | CA432423097 | VHL | c.*150dup (n.*150dup) c.609dup (n.609dup) c.584dup (p.Lys196GlufsTer15) c.473dup (p.Lys159GlufsTer15) c.350dup (p.Lys118GlufsTer15) n.609dup c.*27dup (n.*27dup) | COSMIC |
| 3 | g.10149796_10149797del | CA645525047 | VHL | c.*150_*151del (n.*150_*151del) c.609_610del (n.609_610del) c.584_585del (p.Leu195GlnfsTer15) c.473_474del (p.Leu158GlnfsTer15) c.350_351del (p.Leu117GlnfsTer15) n.609_610del c.*27_*28del (n.*27_*28del) | COSMIC |
| 3 | g.10149796_10149797delinsCC | CA645525048 | VHL | c.*150_*151delinsCC (n.*150_*151delinsCC) c.609_610delinsCC (n.609_610delinsCC) c.584_585delinsCC (p.Leu195Pro) c.473_474delinsCC (p.Leu158Pro) c.350_351delinsCC (p.Leu117Pro) n.609_610delinsCC c.*27_*28delinsCC (n.*27_*28delinsCC) | COSMIC |
| 3 | g.10149796_10149799delinsTGAA | CA1345062171 | VHL | c.*150_*153delinsTGAA (n.*150_*153delinsTGAA) c.609_612delinsTGAA (n.609_612delinsTGAA) c.584_587delinsTGAA (p.Leu195=) c.473_476delinsTGAA (p.Leu158=) c.350_353delinsTGAA (p.Leu117=) n.609_612delinsTGAA c.*27_*30delinsTGAA (n.*27_*30delinsTGAA) | |
| 3 | g.10149797G>A | CA432423100 | VHL | c.*151G>A (n.*151G>A) c.610G>A (n.610G>A) c.585G>A (p.Leu195=) c.474G>A (p.Leu158=) c.351G>A (p.Leu117=) n.610G>A c.*28G>A (n.*28G>A) | |
| 3 | g.10149797G>C | CA432423102 | VHL | c.*151G>C (n.*151G>C) c.610G>C (n.610G>C) c.585G>C (p.Leu195=) c.474G>C (p.Leu158=) c.351G>C (p.Leu117=) n.610G>C c.*28G>C (n.*28G>C) | COSMIC |
| 3 | g.10149797G= | CA1345062180 | VHL | c.*151G= (n.*151G=) c.610G= (n.610G=) c.585G= (p.Leu195=) c.474G= (p.Leu158=) c.351G= (p.Leu117=) n.610G= c.*28G= (n.*28G=) | |
| 3 | g.10149797G>T | CA432423109 | VHL | c.*151G>T (n.*151G>T) c.610G>T (n.610G>T) c.585G>T (p.Leu195=) c.474G>T (p.Leu158=) c.351G>T (p.Leu117=) n.610G>T c.*28G>T (n.*28G>T) | ClinVar dbSNP |
| 3 | g.10149797_10149798delinsGA | CA1345062179 | VHL | c.*151_*152delinsGA (n.*151_*152delinsGA) c.610_611delinsGA (n.610_611delinsGA) c.585_586delinsGA (p.Leu195=) c.474_475delinsGA (p.Leu158=) c.351_352delinsGA (p.Leu117=) n.610_611delinsGA c.*28_*29delinsGA (n.*28_*29delinsGA) | |
| 3 | g.10149797_10149799delinsC | CA658683298 | VHL | c.*151_*153delinsC (n.*151_*153delinsC) c.610_612delinsC (n.610_612delinsC) c.585_587delinsC (p.Lys196ArgfsTer14) c.474_476delinsC (p.Lys159ArgfsTer14) c.351_353delinsC (p.Lys118ArgfsTer14) n.610_612delinsC c.*28_*30delinsC (n.*28_*30delinsC) | ClinVar dbSNP |
| 3 | g.10149799_10149802del | CA645525049 | VHL | c.*153_*156del (n.*153_*156del) c.612_615del (n.612_615del) c.587_590del (p.Lys196SerfsTer10) c.476_479del (p.Lys159SerfsTer10) c.353_356del (p.Lys118SerfsTer10) n.612_615del c.*30_*33del (n.*30_*33del) | COSMIC |
| 3 | g.10149798_10149816del | CA2586965661 | VHL | c.*152_*170del (n.*152_*170del) c.611_629del (n.611_629del) c.586_604del (p.Lys196LeufsTer5) c.475_493del (p.Lys159LeufsTer5) c.352_370del (p.Lys118LeufsTer5) n.611_629del c.*29_*47del (n.*29_*47del) | |
| 3 | g.10149797_10149798insT | CA432423112 | VHL | c.*151_*152insT (n.*151_*152insT) c.610_611insT (n.610_611insT) c.585_586insT (p.Lys196Ter) c.474_475insT (p.Lys159Ter) c.351_352insT (p.Lys118Ter) n.610_611insT c.*28_*29insT (n.*28_*29insT) | |
| 3 | g.10149798A= | CA1345062192 | VHL | c.*152A= (n.*152A=) c.611A= (n.611A=) c.586A= (p.Lys196=) c.475A= (p.Lys159=) c.352A= (p.Lys118=) n.611A= c.*29A= (n.*29A=) | |
| 3 | g.10149798A>C | CA351756076 | VHL | c.*152A>C (n.*152A>C) c.611A>C (n.611A>C) c.586A>C (p.Lys196Gln) c.475A>C (p.Lys159Gln) c.352A>C (p.Lys118Gln) n.611A>C c.*29A>C (n.*29A>C) | |
| 3 | g.10149798A>G | CA351756078 | VHL | c.*152A>G (n.*152A>G) c.611A>G (n.611A>G) c.586A>G (p.Lys196Glu) c.475A>G (p.Lys159Glu) c.352A>G (p.Lys118Glu) n.611A>G c.*29A>G (n.*29A>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149798A>T | CA351756080 | VHL | c.*152A>T (n.*152A>T) c.611A>T (n.611A>T) c.586A>T (p.Lys196Ter) c.475A>T (p.Lys159Ter) c.352A>T (p.Lys118Ter) n.611A>T c.*29A>T (n.*29A>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149800dup | CA432423121 | VHL | c.*154dup (n.*154dup) c.613dup (n.613dup) c.588dup (p.Glu197ArgfsTer14) c.477dup (p.Glu160ArgfsTer14) c.354dup (p.Glu119ArgfsTer14) n.613dup c.*31dup (n.*31dup) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10149800del | CA020404 | VHL | c.*154del (n.*154del) c.613del (n.613del) c.588del (p.Glu197SerfsTer10) c.477del (p.Glu160SerfsTer10) c.354del (p.Glu119SerfsTer10) n.613del c.*31del (n.*31del) | ClinVar dbSNP COSMIC |
| 3 | g.10149798_10149803delinsT | CA645525050 | VHL | c.*152_*157delinsT (n.*152_*157delinsT) c.611_616delinsT (n.611_616delinsT) c.586_591delinsT (p.Lys196SerfsTer13) c.475_480delinsT (p.Lys159SerfsTer13) c.352_357delinsT (p.Lys118SerfsTer13) n.611_616delinsT c.*29_*34delinsT (n.*29_*34delinsT) | COSMIC |
| 3 | g.10149798_10149799insTTT | CA2573130359 | VHL | c.*152_*153insTTT (n.*152_*153insTTT) c.611_612insTTT (n.611_612insTTT) c.586_587insTTT (p.Lys196IlefsTer2) c.475_476insTTT (p.Lys159IlefsTer2) c.352_353insTTT (p.Lys118IlefsTer2) n.611_612insTTT c.*29_*30insTTT (n.*29_*30insTTT) | |
| 3 | g.10149799A>C | CA351756083 | VHL | c.*153A>C (n.*153A>C) c.612A>C (n.612A>C) c.587A>C (p.Lys196Thr) c.476A>C (p.Lys159Thr) c.353A>C (p.Lys118Thr) n.612A>C c.*30A>C (n.*30A>C) | |
| 3 | g.10149799A>G | CA351756086 | VHL | c.*153A>G (n.*153A>G) c.612A>G (n.612A>G) c.587A>G (p.Lys196Arg) c.476A>G (p.Lys159Arg) c.353A>G (p.Lys118Arg) n.612A>G c.*30A>G (n.*30A>G) | dbSNP |
| 3 | g.10149799A>T | CA351756087 | VHL | c.*153A>T (n.*153A>T) c.612A>T (n.612A>T) c.587A>T (p.Lys196Ile) c.476A>T (p.Lys159Ile) c.353A>T (p.Lys118Ile) n.612A>T c.*30A>T (n.*30A>T) | dbSNP |
| 3 | g.10149800_10149802del | CA645525051 | VHL | c.*154_*156del (n.*154_*156del) c.613_615del (n.613_615del) c.588_590del (p.Glu197del) c.477_479del (p.Glu160del) c.354_356del (p.Glu119del) n.613_615del c.*31_*33del (n.*31_*33del) | COSMIC |
| 3 | g.10149800A= | CA1345062201 | VHL | c.*154A= (n.*154A=) c.613A= (n.613A=) c.588A= (p.Lys196=) c.477A= (p.Lys159=) c.354A= (p.Lys118=) n.613A= c.*31A= (n.*31A=) | |
| 3 | g.10149800A>C | CA351756090 | VHL | c.*154A>C (n.*154A>C) c.613A>C (n.613A>C) c.588A>C (p.Lys196Asn) c.477A>C (p.Lys159Asn) c.354A>C (p.Lys118Asn) n.613A>C c.*31A>C (n.*31A>C) | |
| 3 | g.10149800A>G | CA432423129 | VHL | c.*154A>G (n.*154A>G) c.613A>G (n.613A>G) c.588A>G (p.Lys196=) c.477A>G (p.Lys159=) c.354A>G (p.Lys118=) n.613A>G c.*31A>G (n.*31A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149800A>T | CA351756088 | VHL | c.*154A>T (n.*154A>T) c.613A>T (n.613A>T) c.588A>T (p.Lys196Asn) c.477A>T (p.Lys159Asn) c.354A>T (p.Lys118Asn) n.613A>T c.*31A>T (n.*31A>T) | dbSNP COSMIC |
| 3 | g.10149800_10149801insCA | CA645525053 | VHL | c.*154_*155insCA (n.*154_*155insCA) c.613_614insCA (n.613_614insCA) c.588_589insCA (p.Glu197GlnfsTer11) c.477_478insCA (p.Glu160GlnfsTer11) c.354_355insCA (p.Glu119GlnfsTer11) n.613_614insCA c.*31_*32insCA (n.*31_*32insCA) | COSMIC |
| 3 | g.10149800_10149801insTCA | CA2740090900 | VHL | c.*154_*155insTCA (n.*154_*155insTCA) c.613_614insTCA (n.613_614insTCA) c.588_589insTCA (p.Lys196_Glu197insSer) c.477_478insTCA (p.Lys159_Glu160insSer) c.354_355insTCA (p.Lys118_Glu119insSer) n.613_614insTCA c.*31_*32insTCA (n.*31_*32insTCA) | ClinVar |
| 3 | g.10149802_10149803dup | CA645525052 | VHL | c.*156_*157dup (n.*156_*157dup) c.615_616dup (n.615_616dup) c.590_591dup (p.Arg198SerfsTer10) c.479_480dup (p.Arg161SerfsTer10) c.356_357dup (p.Arg120SerfsTer10) n.615_616dup c.*33_*34dup (n.*33_*34dup) | COSMIC |
| 3 | g.10149802_10149803del | CA16621940 | VHL | c.*156_*157del (n.*156_*157del) c.615_616del (n.615_616del) c.590_591del (p.Glu197AlafsTer13) c.479_480del (p.Glu160AlafsTer13) c.356_357del (p.Glu119AlafsTer13) n.615_616del c.*33_*34del (n.*33_*34del) | |
| 3 | g.10149801G>A | CA351756092 | VHL | c.*155G>A (n.*155G>A) c.614G>A (n.614G>A) c.589G>A (p.Glu197Lys) c.478G>A (p.Glu160Lys) c.355G>A (p.Glu119Lys) n.614G>A c.*32G>A (n.*32G>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149801G>C | CA351756093 | VHL | c.*155G>C (n.*155G>C) c.614G>C (n.614G>C) c.589G>C (p.Glu197Gln) c.478G>C (p.Glu160Gln) c.355G>C (p.Glu119Gln) n.614G>C c.*32G>C (n.*32G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149801G= | CA1345062206 | VHL | c.*155G= (n.*155G=) c.614G= (n.614G=) c.589G= (p.Glu197=) c.478G= (p.Glu160=) c.355G= (p.Glu119=) n.614G= c.*32G= (n.*32G=) | |
| 3 | g.10149801G>T | CA351756095 | VHL | c.*155G>T (n.*155G>T) c.614G>T (n.614G>T) c.589G>T (p.Glu197Ter) c.478G>T (p.Glu160Ter) c.355G>T (p.Glu119Ter) n.614G>T c.*32G>T (n.*32G>T) | dbSNP COSMIC |
| 3 | g.10149801delinsTC | CA645525055 | VHL | c.*155delinsTC (n.*155delinsTC) c.614delinsTC (n.614delinsTC) c.589delinsTC (p.Glu197SerfsTer14) c.478delinsTC (p.Glu160SerfsTer14) c.355delinsTC (p.Glu119SerfsTer14) n.614delinsTC c.*32delinsTC (n.*32delinsTC) | COSMIC |
| 3 | g.10149803_10149806del | CA645525054 | VHL | c.*157_*160del (n.*157_*160del) c.616_619del (n.616_619del) c.591_594del (p.Glu197AspfsTer9) c.480_483del (p.Glu160AspfsTer9) c.357_360del (p.Glu119AspfsTer9) n.616_619del c.*34_*37del (n.*34_*37del) | COSMIC COSMIC |
| 3 | g.10149802A= | CA1345062208 | VHL | c.*156A= (n.*156A=) c.615A= (n.615A=) c.590A= (p.Glu197=) c.479A= (p.Glu160=) c.356A= (p.Glu119=) n.615A= c.*33A= (n.*33A=) | |
| 3 | g.10149802A>C | CA351756096 | VHL | c.*156A>C (n.*156A>C) c.615A>C (n.615A>C) c.590A>C (p.Glu197Ala) c.479A>C (p.Glu160Ala) c.356A>C (p.Glu119Ala) n.615A>C c.*33A>C (n.*33A>C) | |
| 3 | g.10149802A>G | CA351756098 | VHL | c.*156A>G (n.*156A>G) c.615A>G (n.615A>G) c.590A>G (p.Glu197Gly) c.479A>G (p.Glu160Gly) c.356A>G (p.Glu119Gly) n.615A>G c.*33A>G (n.*33A>G) | |
| 3 | g.10149802A>T | CA279917 | VHL | c.*156A>T (n.*156A>T) c.615A>T (n.615A>T) c.590A>T (p.Glu197Val) c.479A>T (p.Glu160Val) c.356A>T (p.Glu119Val) n.615A>T c.*33A>T (n.*33A>T) | ClinVar dbSNP |
| 3 | g.10149802dup | CA432423136 | VHL | c.*156dup (n.*156dup) c.615dup (n.615dup) c.590dup (p.Arg198AlafsTer13) c.479dup (p.Arg161AlafsTer13) c.356dup (p.Arg120AlafsTer13) n.615dup c.*33dup (n.*33dup) | |
| 3 | g.10149802_10149807delinsAGCGAT | CA1345062211 | VHL | c.*156_*161delinsAGCGAT (n.*156_*161delinsAGCGAT) c.615_620delinsAGCGAT (n.615_620delinsAGCGAT) c.590_595delinsAGCGAT (p.Glu197=) c.479_484delinsAGCGAT (p.Glu160=) c.356_361delinsAGCGAT (p.Glu119=) n.615_620delinsAGCGAT c.*33_*38delinsAGCGAT (n.*33_*38delinsAGCGAT) | |
| 3 | g.10149803del | CA432423139 | VHL | c.*157del (n.*157del) c.616del (n.616del) c.591del (p.Glu197AspfsTer10) c.480del (p.Glu160AspfsTer10) c.357del (p.Glu119AspfsTer10) n.616del c.*34del (n.*34del) | COSMIC |
| 3 | g.10149803G>A | CA432423138 | VHL | c.*157G>A (n.*157G>A) c.616G>A (n.616G>A) c.591G>A (p.Glu197=) c.480G>A (p.Glu160=) c.357G>A (p.Glu119=) n.616G>A c.*34G>A (n.*34G>A) | ClinVar dbSNP |
| 3 | g.10149803G>C | CA351756101 | VHL | c.*157G>C (n.*157G>C) c.616G>C (n.616G>C) c.591G>C (p.Glu197Asp) c.480G>C (p.Glu160Asp) c.357G>C (p.Glu119Asp) n.616G>C c.*34G>C (n.*34G>C) | dbSNP |
| 3 | g.10149803G= | CA1345062216 | VHL | c.*157G= (n.*157G=) c.616G= (n.616G=) c.591G= (p.Glu197=) c.480G= (p.Glu160=) c.357G= (p.Glu119=) n.616G= c.*34G= (n.*34G=) | |
| 3 | g.10149803G>T | CA351756104 | VHL | c.*157G>T (n.*157G>T) c.616G>T (n.616G>T) c.591G>T (p.Glu197Asp) c.480G>T (p.Glu160Asp) c.357G>T (p.Glu119Asp) n.616G>T c.*34G>T (n.*34G>T) | |
| 3 | g.10149803dup | CA645525056 | VHL | c.*157dup (n.*157dup) c.616dup (n.616dup) c.591dup (p.Arg198AlafsTer13) c.480dup (p.Arg161AlafsTer13) c.357dup (p.Arg120AlafsTer13) n.616dup c.*34dup (n.*34dup) | COSMIC |
| 3 | g.10149804_10149805dup | CA645525057 | VHL | c.*158_*159dup (n.*158_*159dup) c.617_618dup (n.617_618dup) c.592_593dup (p.Cys199AspfsTer9) c.481_482dup (p.Cys162AspfsTer9) c.358_359dup (p.Cys121AspfsTer9) n.617_618dup c.*35_*36dup (n.*35_*36dup) | COSMIC |
| 3 | g.10149805_10149809del | CA16617791 | VHL | c.*159_*163del (n.*159_*163del) c.618_622del (n.618_622del) c.593_597del (p.Arg198ProfsTer11) c.482_486del (p.Arg161ProfsTer11) c.359_363del (p.Arg120ProfsTer11) n.618_622del c.*36_*40del (n.*36_*40del) | ClinVar dbSNP |
| 3 | g.10149804del | CA432423141 | VHL | c.*158del (n.*158del) c.617del (n.617del) c.592del (p.Arg198AspfsTer9) c.481del (p.Arg161AspfsTer9) c.358del (p.Arg120AspfsTer9) n.617del c.*35del (n.*35del) | COSMIC |
| 3 | g.10149804C>A | CA432423146 | VHL | c.*158C>A (n.*158C>A) c.617C>A (n.617C>A) c.592C>A (p.Arg198=) c.481C>A (p.Arg161=) c.358C>A (p.Arg120=) n.617C>A c.*35C>A (n.*35C>A) | |
| 3 | g.10149804C= | CA1345062224 | VHL | c.*158C= (n.*158C=) c.617C= (n.617C=) c.592C= (p.Arg198=) c.481C= (p.Arg161=) c.358C= (p.Arg120=) n.617C= c.*35C= (n.*35C=) | |
| 3 | g.10149804C>G | CA16621941 | VHL | c.*158C>G (n.*158C>G) c.617C>G (n.617C>G) c.592C>G (p.Arg198Gly) c.481C>G (p.Arg161Gly) c.358C>G (p.Arg120Gly) n.617C>G c.*35C>G (n.*35C>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149804C>T | CA020408 | VHL | c.*158C>T (n.*158C>T) c.617C>T (n.617C>T) c.592C>T (p.Arg198Ter) c.481C>T (p.Arg161Ter) c.358C>T (p.Arg120Ter) n.617C>T c.*35C>T (n.*35C>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149804dup | CA432423143 | VHL | c.*158dup (n.*158dup) c.617dup (n.617dup) c.592dup (p.Arg198ProfsTer13) c.481dup (p.Arg161ProfsTer13) c.358dup (p.Arg120ProfsTer13) n.617dup c.*35dup (n.*35dup) | COSMIC |
| 3 | g.10149804_10149806del | CA645525058 | VHL | c.*158_*160del (n.*158_*160del) c.617_619del (n.617_619del) c.592_594del (p.Arg198del) c.481_483del (p.Arg161del) c.358_360del (p.Arg120del) n.617_619del c.*35_*37del (n.*35_*37del) | COSMIC |
| 3 | g.10149804_10149817dup | CA2573119327 | VHL | c.*158_*171dup (n.*158_*171dup) c.617_630dup (n.617_630dup) c.592_605dup (p.Val203AspfsTer9) c.481_494dup (p.Val166AspfsTer9) c.358_371dup (p.Val125AspfsTer9) n.617_630dup c.*35_*48dup (n.*35_*48dup) | |
| 3 | g.10149806_10149823dup | CA658655759 | VHL | c.*160_*177dup (n.*160_*177dup) c.619_636dup (n.619_636dup) c.594_611dup (p.Arg204_Ser205insCysLeuGlnValValArg) c.483_500dup (p.Arg167_Ser168insCysLeuGlnValValArg) c.360_377dup (p.Arg126_Ser127insCysLeuGlnValValArg) n.619_636dup c.*37_*54dup (n.*37_*54dup) | ClinVar dbSNP |
| 3 | g.10149805G>A | CA020413 | VHL | c.*159G>A (n.*159G>A) c.618G>A (n.618G>A) c.593G>A (p.Arg198Gln) c.482G>A (p.Arg161Gln) c.359G>A (p.Arg120Gln) n.618G>A c.*36G>A (n.*36G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10149805G>C | CA351756111 | VHL | c.*159G>C (n.*159G>C) c.618G>C (n.618G>C) c.593G>C (p.Arg198Pro) c.482G>C (p.Arg161Pro) c.359G>C (p.Arg120Pro) n.618G>C c.*36G>C (n.*36G>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149805G= | CA1345062235 | VHL | c.*159G= (n.*159G=) c.618G= (n.618G=) c.593G= (p.Arg198=) c.482G= (p.Arg161=) c.359G= (p.Arg120=) n.618G= c.*36G= (n.*36G=) | |
| 3 | g.10149805G>T | CA351756113 | VHL | c.*159G>T (n.*159G>T) c.618G>T (n.618G>T) c.593G>T (p.Arg198Leu) c.482G>T (p.Arg161Leu) c.359G>T (p.Arg120Leu) n.618G>T c.*36G>T (n.*36G>T) | dbSNP |
| 3 | g.10149805dup | CA432423150 | VHL | c.*159dup (n.*159dup) c.618dup (n.618dup) c.593dup (p.Cys199MetfsTer12) c.482dup (p.Cys162MetfsTer12) c.359dup (p.Cys121MetfsTer12) n.618dup c.*36dup (n.*36dup) | COSMIC |
| 3 | g.10149805_10149806del | CA645525059 | VHL | c.*159_*160del (n.*159_*160del) c.618_619del (n.618_619del) c.593_594del (p.Arg198LeufsTer12) c.482_483del (p.Arg161LeufsTer12) c.359_360del (p.Arg120LeufsTer12) n.618_619del c.*36_*37del (n.*36_*37del) | COSMIC |
| 3 | g.10149805_10149806delinsGA | CA1345062239 | VHL | c.*159_*160delinsGA (n.*159_*160delinsGA) c.618_619delinsGA (n.618_619delinsGA) c.593_594delinsGA (p.Arg198=) c.482_483delinsGA (p.Arg161=) c.359_360delinsGA (p.Arg120=) n.618_619delinsGA c.*36_*37delinsGA (n.*36_*37delinsGA) | |
| 3 | g.10149806_10149808dup | CA2573320436 | VHL | c.*160_*162dup (n.*160_*162dup) c.619_621dup (n.619_621dup) c.594_596dup (p.Cys199Ter) c.483_485dup (p.Cys162Ter) c.360_362dup (p.Cys121Ter) n.619_621dup c.*37_*39dup (n.*37_*39dup) | |
| 3 | g.10149806del | CA658795183 | VHL | c.*160del (n.*160del) c.619del (n.619del) c.594del (p.Cys199AlafsTer8) c.483del (p.Cys162AlafsTer8) c.360del (p.Cys121AlafsTer8) n.619del c.*37del (n.*37del) | ClinVar dbSNP |
| 3 | g.10149806A>C | CA432423155 | VHL | c.*160A>C (n.*160A>C) c.619A>C (n.619A>C) c.594A>C (p.Arg198=) c.483A>C (p.Arg161=) c.360A>C (p.Arg120=) n.619A>C c.*37A>C (n.*37A>C) | dbSNP |
| 3 | g.10149806A>G | CA432423157 | VHL | c.*160A>G (n.*160A>G) c.619A>G (n.619A>G) c.594A>G (p.Arg198=) c.483A>G (p.Arg161=) c.360A>G (p.Arg120=) n.619A>G c.*37A>G (n.*37A>G) | dbSNP |
| 3 | g.10149806A>T | CA432423158 | VHL | c.*160A>T (n.*160A>T) c.619A>T (n.619A>T) c.594A>T (p.Arg198=) c.483A>T (p.Arg161=) c.360A>T (p.Arg120=) n.619A>T c.*37A>T (n.*37A>T) | dbSNP |
| 3 | g.10149806dup | CA645525061 | VHL | c.*160dup (n.*160dup) c.619dup (n.619dup) c.594dup (p.Cys199MetfsTer12) c.483dup (p.Cys162MetfsTer12) c.360dup (p.Cys121MetfsTer12) n.619dup c.*37dup (n.*37dup) | COSMIC |
| 3 | g.10149806_10149807delinsAT | CA1345062246 | VHL | c.*160_*161delinsAT (n.*160_*161delinsAT) c.619_620delinsAT (n.619_620delinsAT) c.594_595delinsAT (p.Arg198=) c.483_484delinsAT (p.Arg161=) c.360_361delinsAT (p.Arg120=) n.619_620delinsAT c.*37_*38delinsAT (n.*37_*38delinsAT) | |
| 3 | g.10149806_10149814del | CA645525060 | VHL | c.*160_*168del (n.*160_*168del) c.619_627del (n.619_627del) c.594_602del (p.Cys199_Gln201del) c.483_491del (p.Cys162_Gln164del) c.360_368del (p.Cys121_Gln123del) n.619_627del c.*37_*45del (n.*37_*45del) | COSMIC |
| 3 | g.10149806_10149807insG | CA432423161 | VHL | c.*160_*161insG (n.*160_*161insG) c.619_620insG (n.619_620insG) c.594_595insG (p.Cys199ValfsTer12) c.483_484insG (p.Cys162ValfsTer12) c.360_361insG (p.Cys121ValfsTer12) n.619_620insG c.*37_*38insG (n.*37_*38insG) | |
| 3 | g.10149807del | CA1345062251 | VHL | c.*161del (n.*161del) c.620del (n.620del) c.595del (p.Cys199AlafsTer8) c.484del (p.Cys162AlafsTer8) c.361del (p.Cys121AlafsTer8) n.620del c.*38del (n.*38del) | ClinVar dbSNP |
| 3 | g.10149807T>A | CA351756120 | VHL | c.*161T>A (n.*161T>A) c.620T>A (n.620T>A) c.595T>A (p.Cys199Ser) c.484T>A (p.Cys162Ser) c.361T>A (p.Cys121Ser) n.620T>A c.*38T>A (n.*38T>A) | dbSNP |
| 3 | g.10149807T>C | CA351756117 | VHL | c.*161T>C (n.*161T>C) c.620T>C (n.620T>C) c.595T>C (p.Cys199Arg) c.484T>C (p.Cys162Arg) c.361T>C (p.Cys121Arg) n.620T>C c.*38T>C (n.*38T>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149807T>G | CA351756116 | VHL | c.*161T>G (n.*161T>G) c.620T>G (n.620T>G) c.595T>G (p.Cys199Gly) c.484T>G (p.Cys162Gly) c.361T>G (p.Cys121Gly) n.620T>G c.*38T>G (n.*38T>G) | dbSNP |
| 3 | g.10149807T= | CA1345062249 | VHL | c.*161T= (n.*161T=) c.620T= (n.620T=) c.595T= (p.Cys199=) c.484T= (p.Cys162=) c.361T= (p.Cys121=) n.620T= c.*38T= (n.*38T=) | |
| 3 | g.10149807_10149808insA | CA432423169 | VHL | c.*161_*162insA (n.*161_*162insA) c.620_621insA (n.620_621insA) c.595_596insA (p.Cys199Ter) c.484_485insA (p.Cys162Ter) c.361_362insA (p.Cys121Ter) n.620_621insA c.*38_*39insA (n.*38_*39insA) | |
| 3 | g.10149808G>A | CA357010 | VHL | c.*162G>A (n.*162G>A) c.621G>A (n.621G>A) c.596G>A (p.Cys199Tyr) c.485G>A (p.Cys162Tyr) c.362G>A (p.Cys121Tyr) n.621G>A c.*39G>A (n.*39G>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149808G>C | CA351756124 | VHL | c.*162G>C (n.*162G>C) c.621G>C (n.621G>C) c.596G>C (p.Cys199Ser) c.485G>C (p.Cys162Ser) c.362G>C (p.Cys121Ser) n.621G>C c.*39G>C (n.*39G>C) | dbSNP gnomAD v4 |
| 3 | g.10149808G= | CA1345062258 | VHL | c.*162G= (n.*162G=) c.621G= (n.621G=) c.596G= (p.Cys199=) c.485G= (p.Cys162=) c.362G= (p.Cys121=) n.621G= c.*39G= (n.*39G=) | |
| 3 | g.10149808G>T | CA020418 | VHL | c.*162G>T (n.*162G>T) c.621G>T (n.621G>T) c.596G>T (p.Cys199Phe) c.485G>T (p.Cys162Phe) c.362G>T (p.Cys121Phe) n.621G>T c.*39G>T (n.*39G>T) | ClinVar dbSNP ExAC COSMIC |
| 3 | g.10149808dup | CA916832757 | VHL | c.*162dup (n.*162dup) c.621dup (n.621dup) c.596dup (p.Cys199TrpfsTer12) c.485dup (p.Cys162TrpfsTer12) c.362dup (p.Cys121TrpfsTer12) n.621dup c.*39dup (n.*39dup) | dbSNP |
| 3 | g.10149808_10149809delinsTT | CA2740090901 | VHL | c.*162_*163delinsTT (n.*162_*163delinsTT) c.621_622delinsTT (n.621_622delinsTT) c.596_597delinsTT (p.Cys199Phe) c.485_486delinsTT (p.Cys162Phe) c.362_363delinsTT (p.Cys121Phe) n.621_622delinsTT c.*39_*40delinsTT (n.*39_*40delinsTT) | ClinVar |
| 3 | g.10149809C>A | CA357112 | VHL | c.*163C>A (n.*163C>A) c.622C>A (n.622C>A) c.597C>A (p.Cys199Ter) c.486C>A (p.Cys162Ter) c.363C>A (p.Cys121Ter) n.622C>A c.*40C>A (n.*40C>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149809C= | CA1345062264 | VHL | c.*163C= (n.*163C=) c.622C= (n.622C=) c.597C= (p.Cys199=) c.486C= (p.Cys162=) c.363C= (p.Cys121=) n.622C= c.*40C= (n.*40C=) | |
| 3 | g.10149809C>G | CA357016 | VHL | c.*163C>G (n.*163C>G) c.622C>G (n.622C>G) c.597C>G (p.Cys199Trp) c.486C>G (p.Cys162Trp) c.363C>G (p.Cys121Trp) n.622C>G c.*40C>G (n.*40C>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149809C>T | CA432423181 | VHL | c.*163C>T (n.*163C>T) c.622C>T (n.622C>T) c.597C>T (p.Cys199=) c.486C>T (p.Cys162=) c.363C>T (p.Cys121=) n.622C>T c.*40C>T (n.*40C>T) | dbSNP |
| 3 | g.10149809_10149810del | CA645525062 | VHL | c.*163_*164del (n.*163_*164del) c.622_623del (n.622_623del) c.597_598del (p.Leu200ProfsTer10) c.486_487del (p.Leu163ProfsTer10) c.363_364del (p.Leu122ProfsTer10) n.622_623del c.*40_*41del (n.*40_*41del) | COSMIC |
| 3 | g.10149810del | CA432423177 | VHL | c.*164del (n.*164del) c.623del (n.623del) c.598del (p.Leu200SerfsTer7) c.487del (p.Leu163SerfsTer7) c.364del (p.Leu122SerfsTer7) n.623del c.*41del (n.*41del) | COSMIC |
| 3 | g.10149809_10149813del | CA645525063 | VHL | c.*163_*167del (n.*163_*167del) c.622_626del (n.622_626del) c.597_601del (p.Cys199Ter) c.486_490del (p.Cys162Ter) c.363_367del (p.Cys121Ter) n.622_626del c.*40_*44del (n.*40_*44del) | COSMIC |
| 3 | g.10149810C>A | CA351756131 | VHL | c.*164C>A (n.*164C>A) c.623C>A (n.623C>A) c.598C>A (p.Leu200Ile) c.487C>A (p.Leu163Ile) c.364C>A (p.Leu122Ile) n.623C>A c.*41C>A (n.*41C>A) | ClinVar gnomAD v4 |
| 3 | g.10149810C= | CA1345062267 | VHL | c.*164C= (n.*164C=) c.623C= (n.623C=) c.598C= (p.Leu200=) c.487C= (p.Leu163=) c.364C= (p.Leu122=) n.623C= c.*41C= (n.*41C=) | |
| 3 | g.10149810C>G | CA351756132 | VHL | c.*164C>G (n.*164C>G) c.623C>G (n.623C>G) c.598C>G (p.Leu200Val) c.487C>G (p.Leu163Val) c.364C>G (p.Leu122Val) n.623C>G c.*41C>G (n.*41C>G) | dbSNP |
| 3 | g.10149810C>T | CA351756135 | VHL | c.*164C>T (n.*164C>T) c.623C>T (n.623C>T) c.598C>T (p.Leu200Phe) c.487C>T (p.Leu163Phe) c.364C>T (p.Leu122Phe) n.623C>T c.*41C>T (n.*41C>T) | ClinVar dbSNP |
| 3 | g.10149811del | CA432423191 | VHL | c.*165del (n.*165del) c.624del (n.624del) c.599del (p.Leu200ProfsTer7) c.488del (p.Leu163ProfsTer7) c.365del (p.Leu122ProfsTer7) n.624del c.*42del (n.*42del) | COSMIC |
| 3 | g.10149811T>A | CA351756137 | VHL | c.*165T>A (n.*165T>A) c.624T>A (n.624T>A) c.599T>A (p.Leu200His) c.488T>A (p.Leu163His) c.365T>A (p.Leu122His) n.624T>A c.*42T>A (n.*42T>A) | COSMIC |
| 3 | g.10149811T>C | CA020423 | VHL | c.*165T>C (n.*165T>C) c.624T>C (n.624T>C) c.599T>C (p.Leu200Pro) c.488T>C (p.Leu163Pro) c.365T>C (p.Leu122Pro) n.624T>C c.*42T>C (n.*42T>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149811T>G | CA16611277 | VHL | c.*165T>G (n.*165T>G) c.624T>G (n.624T>G) c.599T>G (p.Leu200Arg) c.488T>G (p.Leu163Arg) c.365T>G (p.Leu122Arg) n.624T>G c.*42T>G (n.*42T>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149811T= | CA1345062274 | VHL | c.*165T= (n.*165T=) c.624T= (n.624T=) c.599T= (p.Leu200=) c.488T= (p.Leu163=) c.365T= (p.Leu122=) n.624T= c.*42T= (n.*42T=) | |
| 3 | g.10149811_10149812delinsCT | CA645525064 | VHL | c.*165_*166delinsCT (n.*165_*166delinsCT) c.624_625delinsCT (n.624_625delinsCT) c.599_600delinsCT (p.Leu200Pro) c.488_489delinsCT (p.Leu163Pro) c.365_366delinsCT (p.Leu122Pro) n.624_625delinsCT c.*42_*43delinsCT (n.*42_*43delinsCT) | COSMIC |
| 3 | g.10149812C>A | CA432423193 | VHL | c.*166C>A (n.*166C>A) c.625C>A (n.625C>A) c.600C>A (p.Leu200=) c.489C>A (p.Leu163=) c.366C>A (p.Leu122=) n.625C>A c.*43C>A (n.*43C>A) | |
| 3 | g.10149812C= | CA1345062281 | VHL | c.*166C= (n.*166C=) c.625C= (n.625C=) c.600C= (p.Leu200=) c.489C= (p.Leu163=) c.366C= (p.Leu122=) n.625C= c.*43C= (n.*43C=) | |
| 3 | g.10149812C>G | CA432423195 | VHL | c.*166C>G (n.*166C>G) c.625C>G (n.625C>G) c.600C>G (p.Leu200=) c.489C>G (p.Leu163=) c.366C>G (p.Leu122=) n.625C>G c.*43C>G (n.*43C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149812C>T | CA432423198 | VHL | c.*166C>T (n.*166C>T) c.625C>T (n.625C>T) c.600C>T (p.Leu200=) c.489C>T (p.Leu163=) c.366C>T (p.Leu122=) n.625C>T c.*43C>T (n.*43C>T) | dbSNP |
| 3 | g.10149813dup | CA645525065 | VHL | c.*167dup (n.*167dup) c.626dup (n.626dup) c.601dup (p.Gln201ProfsTer10) c.490dup (p.Gln164ProfsTer10) c.367dup (p.Gln123ProfsTer10) n.626dup c.*44dup (n.*44dup) | COSMIC |
| 3 | g.10149813C>A | CA351756143 | VHL | c.*167C>A (n.*167C>A) c.626C>A (n.626C>A) c.601C>A (p.Gln201Lys) c.490C>A (p.Gln164Lys) c.367C>A (p.Gln123Lys) n.626C>A c.*44C>A (n.*44C>A) | ClinVar dbSNP |
| 3 | g.10149813C= | CA1345062287 | VHL | c.*167C= (n.*167C=) c.626C= (n.626C=) c.601C= (p.Gln201=) c.490C= (p.Gln164=) c.367C= (p.Gln123=) n.626C= c.*44C= (n.*44C=) | |
| 3 | g.10149813C>G | CA351756145 | VHL | c.*167C>G (n.*167C>G) c.626C>G (n.626C>G) c.601C>G (p.Gln201Glu) c.490C>G (p.Gln164Glu) c.367C>G (p.Gln123Glu) n.626C>G c.*44C>G (n.*44C>G) | ClinVar dbSNP |
| 3 | g.10149813C>T | CA357060 | VHL | c.*167C>T (n.*167C>T) c.626C>T (n.626C>T) c.601C>T (p.Gln201Ter) c.490C>T (p.Gln164Ter) c.367C>T (p.Gln123Ter) n.626C>T c.*44C>T (n.*44C>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149814A= | CA1345062292 | VHL | c.*168A= (n.*168A=) c.627A= (n.627A=) c.602A= (p.Gln201=) c.491A= (p.Gln164=) c.368A= (p.Gln123=) n.627A= c.*45A= (n.*45A=) | |
| 3 | g.10149814A>C | CA351756151 | VHL | c.*168A>C (n.*168A>C) c.627A>C (n.627A>C) c.602A>C (p.Gln201Pro) c.491A>C (p.Gln164Pro) c.368A>C (p.Gln123Pro) n.627A>C c.*45A>C (n.*45A>C) | COSMIC |
| 3 | g.10149814A>G | CA020429 | VHL | c.*168A>G (n.*168A>G) c.627A>G (n.627A>G) c.602A>G (p.Gln201Arg) c.491A>G (p.Gln164Arg) c.368A>G (p.Gln123Arg) n.627A>G c.*45A>G (n.*45A>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149814A>T | CA351756149 | VHL | c.*168A>T (n.*168A>T) c.627A>T (n.627A>T) c.602A>T (p.Gln201Leu) c.491A>T (p.Gln164Leu) c.368A>T (p.Gln123Leu) n.627A>T c.*45A>T (n.*45A>T) | dbSNP COSMIC |
| 3 | g.10149814_10149815del | CA645525066 | VHL | c.*168_*169del (n.*168_*169del) c.627_628del (n.627_628del) c.602_603del (p.Gln201ArgfsTer9) c.491_492del (p.Gln164ArgfsTer9) c.368_369del (p.Gln123ArgfsTer9) n.627_628del c.*45_*46del (n.*45_*46del) | COSMIC |
| 3 | g.10149814_10149815insC | CA432423215 | VHL | c.*168_*169insC (n.*168_*169insC) c.627_628insC (n.627_628insC) c.602_603insC (p.Gln201HisfsTer10) c.491_492insC (p.Gln164HisfsTer10) c.368_369insC (p.Gln123HisfsTer10) n.627_628insC c.*45_*46insC (n.*45_*46insC) | |
| 3 | g.10149815G>A | CA432423217 | VHL | c.*169G>A (n.*169G>A) c.628G>A (n.628G>A) c.603G>A (p.Gln201=) c.492G>A (p.Gln164=) c.369G>A (p.Gln123=) n.628G>A c.*46G>A (n.*46G>A) | dbSNP |
| 3 | g.10149815G>C | CA351756154 | VHL | c.*169G>C (n.*169G>C) c.628G>C (n.628G>C) c.603G>C (p.Gln201His) c.492G>C (p.Gln164His) c.369G>C (p.Gln123His) n.628G>C c.*46G>C (n.*46G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149815G= | CA1345062301 | VHL | c.*169G= (n.*169G=) c.628G= (n.628G=) c.603G= (p.Gln201=) c.492G= (p.Gln164=) c.369G= (p.Gln123=) n.628G= c.*46G= (n.*46G=) | |
| 3 | g.10149815G>T | CA351756157 | VHL | c.*169G>T (n.*169G>T) c.628G>T (n.628G>T) c.603G>T (p.Gln201His) c.492G>T (p.Gln164His) c.369G>T (p.Gln123His) n.628G>T c.*46G>T (n.*46G>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149815_10149816del | CA645525067 | VHL | c.*169_*170del (n.*169_*170del) c.628_629del (n.628_629del) c.603_604del (p.Gln201HisfsTer9) c.492_493del (p.Gln164HisfsTer9) c.369_370del (p.Gln123HisfsTer9) n.628_629del c.*46_*47del (n.*46_*47del) | COSMIC |
| 3 | g.10149816del | CA432423224 | VHL | c.*170del (n.*170del) c.629del (n.629del) c.604del (p.Val202LeufsTer5) c.493del (p.Val165LeufsTer5) c.370del (p.Val124LeufsTer5) n.629del c.*47del (n.*47del) | ClinVar COSMIC |
| 3 | g.10149816G>A | CA351756159 | VHL | c.*170G>A (n.*170G>A) c.629G>A (n.629G>A) c.604G>A (p.Val202Ile) c.493G>A (p.Val165Ile) c.370G>A (p.Val124Ile) n.629G>A c.*47G>A (n.*47G>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149816G>C | CA351756161 | VHL | c.*170G>C (n.*170G>C) c.629G>C (n.629G>C) c.604G>C (p.Val202Leu) c.493G>C (p.Val165Leu) c.370G>C (p.Val124Leu) n.629G>C c.*47G>C (n.*47G>C) | dbSNP |
| 3 | g.10149816G= | CA1345062311 | VHL | c.*170G= (n.*170G=) c.629G= (n.629G=) c.604G= (p.Val202=) c.493G= (p.Val165=) c.370G= (p.Val124=) n.629G= c.*47G= (n.*47G=) | |
| 3 | g.10149816G>T | CA351756163 | VHL | c.*170G>T (n.*170G>T) c.629G>T (n.629G>T) c.604G>T (p.Val202Phe) c.493G>T (p.Val165Phe) c.370G>T (p.Val124Phe) n.629G>T c.*47G>T (n.*47G>T) | ClinVar dbSNP |
| 3 | g.10149818_10149820dup | CA645525068 | VHL | c.*172_*174dup (n.*172_*174dup) c.631_633dup (n.631_633dup) c.606_608dup (p.Val203_Arg204insVal) c.495_497dup (p.Val166_Arg167insVal) c.372_374dup (p.Val125_Arg126insVal) n.631_633dup c.*49_*51dup (n.*49_*51dup) | COSMIC |
| 3 | g.10149817T>A | CA351756165 | VHL | c.*171T>A (n.*171T>A) c.630T>A (n.630T>A) c.605T>A (p.Val202Asp) c.494T>A (p.Val165Asp) c.371T>A (p.Val124Asp) n.630T>A c.*48T>A (n.*48T>A) | dbSNP COSMIC |
| 3 | g.10149817T>C | CA351756167 | VHL | c.*171T>C (n.*171T>C) c.630T>C (n.630T>C) c.605T>C (p.Val202Ala) c.494T>C (p.Val165Ala) c.371T>C (p.Val124Ala) n.630T>C c.*48T>C (n.*48T>C) | dbSNP |
| 3 | g.10149817T>G | CA351756169 | VHL | c.*171T>G (n.*171T>G) c.630T>G (n.630T>G) c.605T>G (p.Val202Gly) c.494T>G (p.Val165Gly) c.371T>G (p.Val124Gly) n.630T>G c.*48T>G (n.*48T>G) | ClinVar dbSNP |
| 3 | g.10149817T= | CA1345062317 | VHL | c.*171T= (n.*171T=) c.630T= (n.630T=) c.605T= (p.Val202=) c.494T= (p.Val165=) c.371T= (p.Val124=) n.630T= c.*48T= (n.*48T=) | |
| 3 | g.10149818dup | CA432423236 | VHL | c.*172dup (n.*172dup) c.631dup (n.631dup) c.606dup (p.Val203CysfsTer8) c.495dup (p.Val166CysfsTer8) c.372dup (p.Val125CysfsTer8) n.631dup c.*49dup (n.*49dup) | COSMIC |
| 3 | g.10149817_10149818dup | CA645525069 | VHL | c.*171_*172dup (n.*171_*172dup) c.630_631dup (n.630_631dup) c.605_606dup (p.Val203LeufsTer5) c.494_495dup (p.Val166LeufsTer5) c.371_372dup (p.Val125LeufsTer5) n.630_631dup c.*48_*49dup (n.*48_*49dup) | COSMIC COSMIC |
| 3 | g.10149818del | CA432423234 | VHL | c.*172del (n.*172del) c.631del (n.631del) c.606del (p.Val203SerfsTer4) c.495del (p.Val166SerfsTer4) c.372del (p.Val125SerfsTer4) n.631del c.*49del (n.*49del) | COSMIC |
| 3 | g.10149817_10149828delinsTTGTCCGGAGCC | CA1345062315 | VHL | c.*171_*182delinsTTGTCCGGAGCC (n.*171_*182delinsTTGTCCGGAGCC) c.630_641delinsTTGTCCGGAGCC (n.630_641delinsTTGTCCGGAGCC) c.605_616delinsTTGTCCGGAGCC (p.Val202=) c.494_505delinsTTGTCCGGAGCC (p.Val165=) c.371_382delinsTTGTCCGGAGCC (p.Val124=) n.630_641delinsTTGTCCGGAGCC c.*48_*59delinsTTGTCCGGAGCC (n.*48_*59delinsTTGTCCGGAGCC) | |
| 3 | g.10149818T>A | CA432423244 | VHL | c.*172T>A (n.*172T>A) c.631T>A (n.631T>A) c.606T>A (p.Val202=) c.495T>A (p.Val165=) c.372T>A (p.Val124=) n.631T>A c.*49T>A (n.*49T>A) | ClinVar dbSNP |
| 3 | g.10149818T>C | CA432423247 | VHL | c.*172T>C (n.*172T>C) c.631T>C (n.631T>C) c.606T>C (p.Val202=) c.495T>C (p.Val165=) c.372T>C (p.Val124=) n.631T>C c.*49T>C (n.*49T>C) | |
| 3 | g.10149818T>G | CA432423249 | VHL | c.*172T>G (n.*172T>G) c.631T>G (n.631T>G) c.606T>G (p.Val202=) c.495T>G (p.Val165=) c.372T>G (p.Val124=) n.631T>G c.*49T>G (n.*49T>G) | |
| 3 | g.10149819_10149820del | CA645525070 | VHL | c.*173_*174del (n.*173_*174del) c.632_633del (n.632_633del) c.607_608del (p.Val203ProfsTer7) c.496_497del (p.Val166ProfsTer7) c.373_374del (p.Val125ProfsTer7) n.632_633del c.*50_*51del (n.*50_*51del) | COSMIC |
| 3 | g.10149819_10149829del | CA357119 | VHL | c.*173_*183del (n.*173_*183del) c.632_642del (n.632_642del) c.607_617del (p.Val203SerfsTer4) c.496_506del (p.Val166SerfsTer4) c.373_383del (p.Val125SerfsTer4) n.632_642del c.*50_*60del (n.*50_*60del) | ClinVar dbSNP |
| 3 | g.10149819G>A | CA351756173 | VHL | c.*173G>A (n.*173G>A) c.632G>A (n.632G>A) c.607G>A (p.Val203Ile) c.496G>A (p.Val166Ile) c.373G>A (p.Val125Ile) n.632G>A c.*50G>A (n.*50G>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149819G>C | CA351756174 | VHL | c.*173G>C (n.*173G>C) c.632G>C (n.632G>C) c.607G>C (p.Val203Leu) c.496G>C (p.Val166Leu) c.373G>C (p.Val125Leu) n.632G>C c.*50G>C (n.*50G>C) | dbSNP |
| 3 | g.10149819G= | CA1345062324 | VHL | c.*173G= (n.*173G=) c.632G= (n.632G=) c.607G= (p.Val203=) c.496G= (p.Val166=) c.373G= (p.Val125=) n.632G= c.*50G= (n.*50G=) | |
| 3 | g.10149819G>T | CA020436 | VHL | c.*173G>T (n.*173G>T) c.632G>T (n.632G>T) c.607G>T (p.Val203Phe) c.496G>T (p.Val166Phe) c.373G>T (p.Val125Phe) n.632G>T c.*50G>T (n.*50G>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149820_10149824del | CA645525071 | VHL | c.*174_*178del (n.*174_*178del) c.633_637del (n.633_637del) c.608_612del (p.Val203GlufsTer6) c.497_501del (p.Val166GlufsTer6) c.374_378del (p.Val125GlufsTer6) n.633_637del c.*51_*55del (n.*51_*55del) | COSMIC |
| 3 | g.10149820T>A | CA351756176 | VHL | c.*174T>A (n.*174T>A) c.633T>A (n.633T>A) c.608T>A (p.Val203Asp) c.497T>A (p.Val166Asp) c.374T>A (p.Val125Asp) n.633T>A c.*51T>A (n.*51T>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149820T>C | CA020442 | VHL | c.*174T>C (n.*174T>C) c.633T>C (n.633T>C) c.608T>C (p.Val203Ala) c.497T>C (p.Val166Ala) c.374T>C (p.Val125Ala) n.633T>C c.*51T>C (n.*51T>C) | ClinVar dbSNP |
| 3 | g.10149820T>G | CA351756175 | VHL | c.*174T>G (n.*174T>G) c.633T>G (n.633T>G) c.608T>G (p.Val203Gly) c.497T>G (p.Val166Gly) c.374T>G (p.Val125Gly) n.633T>G c.*51T>G (n.*51T>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149820T= | CA1345062333 | VHL | c.*174T= (n.*174T=) c.633T= (n.633T=) c.608T= (p.Val203=) c.497T= (p.Val166=) c.374T= (p.Val125=) n.633T= c.*51T= (n.*51T=) | |
| 3 | g.10149821C>A | CA432423267 | VHL | c.*175C>A (n.*175C>A) c.634C>A (n.634C>A) c.609C>A (p.Val203=) c.498C>A (p.Val166=) c.375C>A (p.Val125=) n.634C>A c.*52C>A (n.*52C>A) | dbSNP |
| 3 | g.10149821C>G | CA432423269 | VHL | c.*175C>G (n.*175C>G) c.634C>G (n.634C>G) c.609C>G (p.Val203=) c.498C>G (p.Val166=) c.375C>G (p.Val125=) n.634C>G c.*52C>G (n.*52C>G) | dbSNP |
| 3 | g.10149821C>T | CA432423271 | VHL | c.*175C>T (n.*175C>T) c.634C>T (n.634C>T) c.609C>T (p.Val203=) c.498C>T (p.Val166=) c.375C>T (p.Val125=) n.634C>T c.*52C>T (n.*52C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149822del | CA432423273 | VHL | c.*176del (n.*176del) c.635del (n.635del) c.610del (p.Arg204GlyfsTer3) c.499del (p.Arg167GlyfsTer3) c.376del (p.Arg126GlyfsTer3) n.635del c.*53del (n.*53del) | COSMIC |
| 3 | g.10149822C>A | CA432423275 | VHL | c.*176C>A (n.*176C>A) c.635C>A (n.635C>A) c.610C>A (p.Arg204=) c.499C>A (p.Arg167=) c.376C>A (p.Arg126=) n.635C>A c.*53C>A (n.*53C>A) | |
| 3 | g.10149822C= | CA1345062339 | VHL | c.*176C= (n.*176C=) c.635C= (n.635C=) c.610C= (p.Arg204=) c.499C= (p.Arg167=) c.376C= (p.Arg126=) n.635C= c.*53C= (n.*53C=) | |
| 3 | g.10149822C>G | CA020446 | VHL | c.*176C>G (n.*176C>G) c.635C>G (n.635C>G) c.610C>G (p.Arg204Gly) c.499C>G (p.Arg167Gly) c.376C>G (p.Arg126Gly) n.635C>G c.*53C>G (n.*53C>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149822C>T | CA020450 | VHL | c.*176C>T (n.*176C>T) c.635C>T (n.635C>T) c.610C>T (p.Arg204Trp) c.499C>T (p.Arg167Trp) c.376C>T (p.Arg126Trp) n.635C>T c.*53C>T (n.*53C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10149822_10149823del | CA645525072 | VHL | c.*176_*177del (n.*176_*177del) c.635_636del (n.635_636del) c.610_611del (p.Arg204GlufsTer6) c.499_500del (p.Arg167GlufsTer6) c.376_377del (p.Arg126GlufsTer6) n.635_636del c.*53_*54del (n.*53_*54del) | COSMIC |
| 3 | g.10149822_10149827delinsT | CA16621943 | VHL | c.*176_*181delinsT (n.*176_*181delinsT) c.635_640delinsT (n.635_640delinsT) c.610_615delinsT (p.Arg204SerfsTer5) c.499_504delinsT (p.Arg167SerfsTer5) c.376_381delinsT (p.Arg126SerfsTer5) n.635_640delinsT c.*53_*58delinsT (n.*53_*58delinsT) | |
| 3 | g.10149823G>A | CA020454 | VHL | c.*177G>A (n.*177G>A) c.636G>A (n.636G>A) c.611G>A (p.Arg204Gln) c.500G>A (p.Arg167Gln) c.377G>A (p.Arg126Gln) n.636G>A c.*54G>A (n.*54G>A) | ClinVar dbSNP gnomAD v2 COSMIC |
| 3 | g.10149823G>C | CA351756177 | VHL | c.*177G>C (n.*177G>C) c.636G>C (n.636G>C) c.611G>C (p.Arg204Pro) c.500G>C (p.Arg167Pro) c.377G>C (p.Arg126Pro) n.636G>C c.*54G>C (n.*54G>C) | ClinVar dbSNP |
| 3 | g.10149823G= | CA1345062348 | VHL | c.*177G= (n.*177G=) c.636G= (n.636G=) c.611G= (p.Arg204=) c.500G= (p.Arg167=) c.377G= (p.Arg126=) n.636G= c.*54G= (n.*54G=) | |
| 3 | g.10149823G>T | CA351756178 | VHL | c.*177G>T (n.*177G>T) c.636G>T (n.636G>T) c.611G>T (p.Arg204Leu) c.500G>T (p.Arg167Leu) c.377G>T (p.Arg126Leu) n.636G>T c.*54G>T (n.*54G>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149823_10149824del | CA645525073 | VHL | c.*177_*178del (n.*177_*178del) c.636_637del (n.636_637del) c.611_612del (p.Arg204GlnfsTer6) c.500_501del (p.Arg167GlnfsTer6) c.377_378del (p.Arg126GlnfsTer6) n.636_637del c.*54_*55del (n.*54_*55del) | COSMIC |
| 3 | g.10149824del | CA432423283 | VHL | c.*178del (n.*178del) c.637del (n.637del) c.612del (p.Ser205AlafsTer2) c.501del (p.Ser168AlafsTer2) c.378del (p.Ser127AlafsTer2) n.637del c.*55del (n.*55del) | COSMIC COSMIC |
| 3 | g.10149824G>A | CA432423286 | VHL | c.*178G>A (n.*178G>A) c.637G>A (n.637G>A) c.612G>A (p.Arg204=) c.501G>A (p.Arg167=) c.378G>A (p.Arg126=) n.637G>A c.*55G>A (n.*55G>A) | dbSNP COSMIC |
| 3 | g.10149824G>C | CA432423288 | VHL | c.*178G>C (n.*178G>C) c.637G>C (n.637G>C) c.612G>C (p.Arg204=) c.501G>C (p.Arg167=) c.378G>C (p.Arg126=) n.637G>C c.*55G>C (n.*55G>C) | ClinVar dbSNP |
| 3 | g.10149824G= | CA1345062357 | VHL | c.*178G= (n.*178G=) c.637G= (n.637G=) c.612G= (p.Arg204=) c.501G= (p.Arg167=) c.378G= (p.Arg126=) n.637G= c.*55G= (n.*55G=) | |
| 3 | g.10149824G>T | CA432423289 | VHL | c.*178G>T (n.*178G>T) c.637G>T (n.637G>T) c.612G>T (p.Arg204=) c.501G>T (p.Arg167=) c.378G>T (p.Arg126=) n.637G>T c.*55G>T (n.*55G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149827_10149842del | CA2499216391 | VHL | c.*181_*196del (n.*181_*196del) c.640_655del (n.640_655del) c.615_630del (p.Ser205ArgfsTer29) c.504_519del (p.Ser168ArgfsTer29) c.381_396del (p.Ser127ArgfsTer29) n.640_655del c.*58_*73del (n.*58_*73del) | ClinVar dbSNP |
| 3 | g.10149824_10149825insTTGTCCGT | CA020458 | VHL | c.*178_*179insTTGTCCGT (n.*178_*179insTTGTCCGT) c.637_638insTTGTCCGT (n.637_638insTTGTCCGT) c.612_613insTTGTCCGT (p.Ser205LeufsTer5) c.501_502insTTGTCCGT (p.Ser168LeufsTer5) c.378_379insTTGTCCGT (p.Ser127LeufsTer5) n.637_638insTTGTCCGT c.*55_*56insTTGTCCGT (n.*55_*56insTTGTCCGT) | ClinVar dbSNP |
| 3 | g.10149825A>C | CA351756179 | VHL | c.*179A>C (n.*179A>C) c.638A>C (n.638A>C) c.613A>C (p.Ser205Arg) c.502A>C (p.Ser168Arg) c.379A>C (p.Ser127Arg) n.638A>C c.*56A>C (n.*56A>C) | |
| 3 | g.10149825A>G | CA351756180 | VHL | c.*179A>G (n.*179A>G) c.638A>G (n.638A>G) c.613A>G (p.Ser205Gly) c.502A>G (p.Ser168Gly) c.379A>G (p.Ser127Gly) n.638A>G c.*56A>G (n.*56A>G) | dbSNP |
| 3 | g.10149825A>T | CA351756181 | VHL | c.*179A>T (n.*179A>T) c.638A>T (n.638A>T) c.613A>T (p.Ser205Cys) c.502A>T (p.Ser168Cys) c.379A>T (p.Ser127Cys) n.638A>T c.*56A>T (n.*56A>T) | dbSNP COSMIC |
| 3 | g.10149830_10149839del | CA645525074 | VHL | c.*184_*193del (n.*184_*193del) c.643_652del (n.643_652del) c.618_627del (p.Val207ArgfsTer29) c.507_516del (p.Val170ArgfsTer29) c.384_393del (p.Val129ArgfsTer29) n.643_652del c.*61_*70del (n.*61_*70del) | COSMIC COSMIC |
| 3 | g.10149825_10149826insTTGTTCGT | CA2573051075 | VHL | c.*179_*180insTTGTTCGT (n.*179_*180insTTGTTCGT) c.638_639insTTGTTCGT (n.638_639insTTGTTCGT) c.613_614insTTGTTCGT (p.Ser205IlefsTer5) c.502_503insTTGTTCGT (p.Ser168IlefsTer5) c.379_380insTTGTTCGT (p.Ser127IlefsTer5) n.638_639insTTGTTCGT c.*56_*57insTTGTTCGT (n.*56_*57insTTGTTCGT) | |
| 3 | g.10149826del | CA432423300 | VHL | c.*180del (n.*180del) c.639del (n.639del) c.614del (p.Ser205ThrfsTer2) c.503del (p.Ser168ThrfsTer2) c.380del (p.Ser127ThrfsTer2) n.639del c.*57del (n.*57del) | COSMIC |
| 3 | g.10149826G>A | CA351756182 | VHL | c.*180G>A (n.*180G>A) c.639G>A (n.639G>A) c.614G>A (p.Ser205Asn) c.503G>A (p.Ser168Asn) c.380G>A (p.Ser127Asn) n.639G>A c.*57G>A (n.*57G>A) | ClinVar dbSNP |
| 3 | g.10149826G>C | CA351756183 | VHL | c.*180G>C (n.*180G>C) c.639G>C (n.639G>C) c.614G>C (p.Ser205Thr) c.503G>C (p.Ser168Thr) c.380G>C (p.Ser127Thr) n.639G>C c.*57G>C (n.*57G>C) | dbSNP |
| 3 | g.10149826G= | CA1345062362 | VHL | c.*180G= (n.*180G=) c.639G= (n.639G=) c.614G= (p.Ser205=) c.503G= (p.Ser168=) c.380G= (p.Ser127=) n.639G= c.*57G= (n.*57G=) | |
| 3 | g.10149826G>T | CA351756184 | VHL | c.*180G>T (n.*180G>T) c.639G>T (n.639G>T) c.614G>T (p.Ser205Ile) c.503G>T (p.Ser168Ile) c.380G>T (p.Ser127Ile) n.639G>T c.*57G>T (n.*57G>T) | dbSNP |
| 3 | g.10149826_10149827del | CA645525076 | VHL | c.*180_*181del (n.*180_*181del) c.639_640del (n.639_640del) c.614_615del (p.Ser205ThrfsTer5) c.503_504del (p.Ser168ThrfsTer5) c.380_381del (p.Ser127ThrfsTer5) n.639_640del c.*57_*58del (n.*57_*58del) | COSMIC |
| 3 | g.10149826_10149832del | CA645525075 | VHL | c.*180_*186del (n.*180_*186del) c.639_645del (n.639_645del) c.614_620del (p.Ser205ThrfsTer?) c.503_509del (p.Ser168ThrfsTer?) c.380_386del (p.Ser127ThrfsTer?) n.639_645del c.*57_*63del (n.*57_*63del) | COSMIC |
| 3 | g.10149826_10149836del | CA2573131812 | VHL | c.*180_*190del (n.*180_*190del) c.639_649del (n.639_649del) c.614_624del (p.Ser205ThrfsTer2) c.503_513del (p.Ser168ThrfsTer2) c.380_390del (p.Ser127ThrfsTer2) n.639_649del c.*57_*67del (n.*57_*67del) | |
| 3 | g.10149827C>A | CA351756186 | VHL | c.*181C>A (n.*181C>A) c.640C>A (n.640C>A) c.615C>A (p.Ser205Arg) c.504C>A (p.Ser168Arg) c.381C>A (p.Ser127Arg) n.640C>A c.*58C>A (n.*58C>A) | dbSNP |
| 3 | g.10149827C= | CA1345062368 | VHL | c.*181C= (n.*181C=) c.640C= (n.640C=) c.615C= (p.Ser205=) c.504C= (p.Ser168=) c.381C= (p.Ser127=) n.640C= c.*58C= (n.*58C=) | |
| 3 | g.10149827C>G | CA351756185 | VHL | c.*181C>G (n.*181C>G) c.640C>G (n.640C>G) c.615C>G (p.Ser205Arg) c.504C>G (p.Ser168Arg) c.381C>G (p.Ser127Arg) n.640C>G c.*58C>G (n.*58C>G) | dbSNP |
| 3 | g.10149827C>T | CA432423306 | VHL | c.*181C>T (n.*181C>T) c.640C>T (n.640C>T) c.615C>T (p.Ser205=) c.504C>T (p.Ser168=) c.381C>T (p.Ser127=) n.640C>T c.*58C>T (n.*58C>T) | ClinVar dbSNP |
| 3 | g.10149828dup | CA1139655762 | VHL | c.*182dup (n.*182dup) c.641dup (n.641dup) c.616dup (p.Leu206ProfsTer5) c.505dup (p.Leu169ProfsTer5) c.382dup (p.Leu128ProfsTer5) n.641dup c.*59dup (n.*59dup) | ClinVar dbSNP |
| 3 | g.10149828del | CA432423309 | VHL | c.*182del (n.*182del) c.641del (n.641del) c.616del (p.Leu206Ter) c.505del (p.Leu169Ter) c.382del (p.Leu128Ter) n.641del c.*59del (n.*59del) | COSMIC |
| 3 | g.10149828_10149833del | CA645525078 | VHL | c.*182_*187del (n.*182_*187del) c.641_646del (n.641_646del) c.616_621del (p.Leu206_Val207del) c.505_510del (p.Leu169_Val170del) c.382_387del (p.Leu128_Val129del) n.641_646del c.*59_*64del (n.*59_*64del) | COSMIC |
| 3 | g.10149827_10149834del | CA645525077 | VHL | c.*181_*188del (n.*181_*188del) c.640_647del (n.640_647del) c.615_622del (p.Ser205ArgfsTer3) c.504_511del (p.Ser168ArgfsTer3) c.381_388del (p.Ser127ArgfsTer3) n.640_647del c.*58_*65del (n.*58_*65del) | COSMIC |
| 3 | g.10149828C>A | CA351756187 | VHL | c.*182C>A (n.*182C>A) c.641C>A (n.641C>A) c.616C>A (p.Leu206Ile) c.505C>A (p.Leu169Ile) c.382C>A (p.Leu128Ile) n.641C>A c.*59C>A (n.*59C>A) | dbSNP |
| 3 | g.10149828C= | CA1345062374 | VHL | c.*182C= (n.*182C=) c.641C= (n.641C=) c.616C= (p.Leu206=) c.505C= (p.Leu169=) c.382C= (p.Leu128=) n.641C= c.*59C= (n.*59C=) | |
| 3 | g.10149828C>G | CA351756188 | VHL | c.*182C>G (n.*182C>G) c.641C>G (n.641C>G) c.616C>G (p.Leu206Val) c.505C>G (p.Leu169Val) c.382C>G (p.Leu128Val) n.641C>G c.*59C>G (n.*59C>G) | ClinVar dbSNP |
| 3 | g.10149828C>T | CA432423313 | VHL | c.*182C>T (n.*182C>T) c.641C>T (n.641C>T) c.616C>T (p.Leu206=) c.505C>T (p.Leu169=) c.382C>T (p.Leu128=) n.641C>T c.*59C>T (n.*59C>T) | COSMIC |
| 3 | g.10149828_10149829delinsCT | CA1345062372 | VHL | c.*182_*183delinsCT (n.*182_*183delinsCT) c.641_642delinsCT (n.641_642delinsCT) c.616_617delinsCT (p.Leu206=) c.505_506delinsCT (p.Leu169=) c.382_383delinsCT (p.Leu128=) n.641_642delinsCT c.*59_*60delinsCT (n.*59_*60delinsCT) | |
| 3 | g.10149829_10149833del | CA645525079 | VHL | c.*183_*187del (n.*183_*187del) c.642_646del (n.642_646del) c.617_621del (p.Leu206GlnfsTer3) c.506_510del (p.Leu169GlnfsTer3) c.383_387del (p.Leu128GlnfsTer3) n.642_646del c.*60_*64del (n.*60_*64del) | COSMIC |
| 3 | g.10149829del | CA432423319 | VHL | c.*183del (n.*183del) c.642del (n.642del) c.617del (p.Leu206GlnfsTer?) c.506del (p.Leu169GlnfsTer?) c.383del (p.Leu128GlnfsTer?) n.642del c.*60del (n.*60del) | ClinVar dbSNP gnomAD v2 COSMIC |
| 3 | g.10149829T>A | CA351756189 | VHL | c.*183T>A (n.*183T>A) c.642T>A (n.642T>A) c.617T>A (p.Leu206Gln) c.506T>A (p.Leu169Gln) c.383T>A (p.Leu128Gln) n.642T>A c.*60T>A (n.*60T>A) | dbSNP |
| 3 | g.10149829T>C | CA351756191 | VHL | c.*183T>C (n.*183T>C) c.642T>C (n.642T>C) c.617T>C (p.Leu206Pro) c.506T>C (p.Leu169Pro) c.383T>C (p.Leu128Pro) n.642T>C c.*60T>C (n.*60T>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149829T>G | CA351756190 | VHL | c.*183T>G (n.*183T>G) c.642T>G (n.642T>G) c.617T>G (p.Leu206Arg) c.506T>G (p.Leu169Arg) c.383T>G (p.Leu128Arg) n.642T>G c.*60T>G (n.*60T>G) | |
| 3 | g.10149829T= | CA1345062379 | VHL | c.*183T= (n.*183T=) c.642T= (n.642T=) c.617T= (p.Leu206=) c.506T= (p.Leu169=) c.383T= (p.Leu128=) n.642T= c.*60T= (n.*60T=) | |
| 3 | g.10149830del | CA432423324 | VHL | c.*184del (n.*184del) c.643del (n.643del) c.618del (p.Val207SerfsTer?) c.507del (p.Val170SerfsTer?) c.384del (p.Val129SerfsTer?) n.643del c.*61del (n.*61del) | COSMIC |
| 3 | g.10149830A= | CA1345062385 | VHL | c.*184A= (n.*184A=) c.643A= (n.643A=) c.618A= (p.Leu206=) c.507A= (p.Leu169=) c.384A= (p.Leu128=) n.643A= c.*61A= (n.*61A=) | |
| 3 | g.10149830A>C | CA10582116 | VHL | c.*184A>C (n.*184A>C) c.643A>C (n.643A>C) c.618A>C (p.Leu206=) c.507A>C (p.Leu169=) c.384A>C (p.Leu128=) n.643A>C c.*61A>C (n.*61A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149830A>G | CA432423322 | VHL | c.*184A>G (n.*184A>G) c.643A>G (n.643A>G) c.618A>G (p.Leu206=) c.507A>G (p.Leu169=) c.384A>G (p.Leu128=) n.643A>G c.*61A>G (n.*61A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149830A>T | CA432423326 | VHL | c.*184A>T (n.*184A>T) c.643A>T (n.643A>T) c.618A>T (p.Leu206=) c.507A>T (p.Leu169=) c.384A>T (p.Leu128=) n.643A>T c.*61A>T (n.*61A>T) | dbSNP |
| 3 | g.10149831G>A | CA351756194 | VHL | c.*185G>A (n.*185G>A) c.644G>A (n.644G>A) c.619G>A (p.Val207Ile) c.508G>A (p.Val170Ile) c.385G>A (p.Val129Ile) n.644G>A c.*62G>A (n.*62G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149831G>C | CA351756192 | VHL | c.*185G>C (n.*185G>C) c.644G>C (n.644G>C) c.619G>C (p.Val207Leu) c.508G>C (p.Val170Leu) c.385G>C (p.Val129Leu) n.644G>C c.*62G>C (n.*62G>C) | ClinVar dbSNP |
| 3 | g.10149831G= | CA1345062390 | VHL | c.*185G= (n.*185G=) c.644G= (n.644G=) c.619G= (p.Val207=) c.508G= (p.Val170=) c.385G= (p.Val129=) n.644G= c.*62G= (n.*62G=) | |
| 3 | g.10149831G>T | CA351756193 | VHL | c.*185G>T (n.*185G>T) c.644G>T (n.644G>T) c.619G>T (p.Val207Phe) c.508G>T (p.Val170Phe) c.385G>T (p.Val129Phe) n.644G>T c.*62G>T (n.*62G>T) | dbSNP |
| 3 | g.10149831_10149832delinsGT | CA1345062389 | VHL | c.*185_*186delinsGT (n.*185_*186delinsGT) c.644_645delinsGT (n.644_645delinsGT) c.619_620delinsGT (p.Val207=) c.508_509delinsGT (p.Val170=) c.385_386delinsGT (p.Val129=) n.644_645delinsGT c.*62_*63delinsGT (n.*62_*63delinsGT) | |
| 3 | g.10149832del | CA432423338 | VHL | c.*186del (n.*186del) c.645del (n.645del) c.620del (p.Val207AlafsTer?) c.509del (p.Val170AlafsTer?) c.386del (p.Val129AlafsTer?) n.645del c.*63del (n.*63del) | dbSNP gnomAD v2 COSMIC |
| 3 | g.10149832T>A | CA351756195 | VHL | c.*186T>A (n.*186T>A) c.645T>A (n.645T>A) c.620T>A (p.Val207Asp) c.509T>A (p.Val170Asp) c.386T>A (p.Val129Asp) n.645T>A c.*63T>A (n.*63T>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149832T>C | CA279950 | VHL | c.*186T>C (n.*186T>C) c.645T>C (n.645T>C) c.620T>C (p.Val207Ala) c.509T>C (p.Val170Ala) c.386T>C (p.Val129Ala) n.645T>C c.*63T>C (n.*63T>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149832T>G | CA351756196 | VHL | c.*186T>G (n.*186T>G) c.645T>G (n.645T>G) c.620T>G (p.Val207Gly) c.509T>G (p.Val170Gly) c.386T>G (p.Val129Gly) n.645T>G c.*63T>G (n.*63T>G) | dbSNP |
| 3 | g.10149832T= | CA1345062399 | VHL | c.*186T= (n.*186T=) c.645T= (n.645T=) c.620T= (p.Val207=) c.509T= (p.Val170=) c.386T= (p.Val129=) n.645T= c.*63T= (n.*63T=) | |
| 3 | g.10149832_10149833dup | CA645525080 | VHL | c.*186_*187dup (n.*186_*187dup) c.645_646dup (n.645_646dup) c.620_621dup (p.Lys208SerfsTer?) c.509_510dup (p.Lys171SerfsTer?) c.386_387dup (p.Lys130SerfsTer?) n.645_646dup c.*63_*64dup (n.*63_*64dup) | COSMIC |
| 3 | g.10149832_10149833insA | CA645525081 | VHL | c.*186_*187insA (n.*186_*187insA) c.645_646insA (n.645_646insA) c.620_621insA (p.Lys208GlnfsTer3) c.509_510insA (p.Lys171GlnfsTer3) c.386_387insA (p.Lys130GlnfsTer3) n.645_646insA c.*63_*64insA (n.*63_*64insA) | COSMIC |
| 3 | g.10149833C>A | CA041357 | VHL | c.*187C>A (n.*187C>A) c.646C>A (n.646C>A) c.621C>A (p.Val207=) c.510C>A (p.Val170=) c.387C>A (p.Val129=) n.646C>A c.*64C>A (n.*64C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149833C= | CA1345062406 | VHL | c.*187C= (n.*187C=) c.646C= (n.646C=) c.621C= (p.Val207=) c.510C= (p.Val170=) c.387C= (p.Val129=) n.646C= c.*64C= (n.*64C=) | |
| 3 | g.10149833C>G | CA432423343 | VHL | c.*187C>G (n.*187C>G) c.646C>G (n.646C>G) c.621C>G (p.Val207=) c.510C>G (p.Val170=) c.387C>G (p.Val129=) n.646C>G c.*64C>G (n.*64C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149833C>T | CA041370 | VHL | c.*187C>T (n.*187C>T) c.646C>T (n.646C>T) c.621C>T (p.Val207=) c.510C>T (p.Val170=) c.387C>T (p.Val129=) n.646C>T c.*64C>T (n.*64C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10149834A>C | CA351756197 | VHL | c.*188A>C (n.*188A>C) c.647A>C (n.647A>C) c.622A>C (p.Lys208Gln) c.511A>C (p.Lys171Gln) c.388A>C (p.Lys130Gln) n.647A>C c.*65A>C (n.*65A>C) | |
| 3 | g.10149834A>G | CA351756198 | VHL | c.*188A>G (n.*188A>G) c.647A>G (n.647A>G) c.622A>G (p.Lys208Glu) c.511A>G (p.Lys171Glu) c.388A>G (p.Lys130Glu) n.647A>G c.*65A>G (n.*65A>G) | ClinVar |
| 3 | g.10149834A>T | CA351756199 | VHL | c.*188A>T (n.*188A>T) c.647A>T (n.647A>T) c.622A>T (p.Lys208Ter) c.511A>T (p.Lys171Ter) c.388A>T (p.Lys130Ter) n.647A>T c.*65A>T (n.*65A>T) | dbSNP COSMIC |
| 3 | g.10149835dup | CA432423353 | VHL | c.*189dup (n.*189dup) c.648dup (n.648dup) c.623dup (p.Pro209AlafsTer2) c.512dup (p.Pro172AlafsTer2) c.389dup (p.Pro131AlafsTer2) n.648dup c.*66dup (n.*66dup) | |
| 3 | g.10149835del | CA432423346 | VHL | c.*189del (n.*189del) c.648del (n.648del) c.623del (p.Lys208SerfsTer?) c.512del (p.Lys171SerfsTer?) c.389del (p.Lys130SerfsTer?) n.648del c.*66del (n.*66del) | COSMIC |
| 3 | g.10149835A= | CA1345062409 | VHL | c.*189A= (n.*189A=) c.648A= (n.648A=) c.623A= (p.Lys208=) c.512A= (p.Lys171=) c.389A= (p.Lys130=) n.648A= c.*66A= (n.*66A=) | |
| 3 | g.10149835A>C | CA351756202 | VHL | c.*189A>C (n.*189A>C) c.648A>C (n.648A>C) c.623A>C (p.Lys208Thr) c.512A>C (p.Lys171Thr) c.389A>C (p.Lys130Thr) n.648A>C c.*66A>C (n.*66A>C) | dbSNP |
| 3 | g.10149835A>G | CA351756201 | VHL | c.*189A>G (n.*189A>G) c.648A>G (n.648A>G) c.623A>G (p.Lys208Arg) c.512A>G (p.Lys171Arg) c.389A>G (p.Lys130Arg) n.648A>G c.*66A>G (n.*66A>G) | ClinVar dbSNP |
| 3 | g.10149835A>T | CA351756200 | VHL | c.*189A>T (n.*189A>T) c.648A>T (n.648A>T) c.623A>T (p.Lys208Met) c.512A>T (p.Lys171Met) c.389A>T (p.Lys130Met) n.648A>T c.*66A>T (n.*66A>T) | dbSNP |
| 3 | g.10149835_10149839del | CA645525083 | VHL | c.*189_*193del (n.*189_*193del) c.648_652del (n.648_652del) c.623_627del (p.Lys208ArgfsTer?) c.512_516del (p.Lys171ArgfsTer?) c.389_393del (p.Lys130ArgfsTer?) n.648_652del c.*66_*70del (n.*66_*70del) | COSMIC |
| 3 | g.10149837_10149842del | CA645525082 | VHL | c.*191_*196del (n.*191_*196del) c.650_655del (n.650_655del) c.625_630del (p.Pro209_Glu210del) c.514_519del (p.Pro172_Glu173del) c.391_396del (p.Pro131_Glu132del) n.650_655del c.*68_*73del (n.*68_*73del) | COSMIC |
| 3 | g.10149837_10149850del | CA645525084 | VHL | c.*191_*204del (n.*191_*204del) c.650_663del (n.650_663del) c.625_638del (p.Pro209GlufsTer?) c.514_527del (p.Pro172GlufsTer?) c.391_404del (p.Pro131GlufsTer?) n.650_663del c.*68_*81del (n.*68_*81del) | COSMIC |
| 3 | g.10149836del | CA645525085 | VHL | c.*190del (n.*190del) c.649del (n.649del) c.624del (p.Lys208AsnfsTer?) c.513del (p.Lys171AsnfsTer?) c.390del (p.Lys130AsnfsTer?) n.649del c.*67del (n.*67del) | COSMIC |
| 3 | g.10149836G>A | CA432423359 | VHL | c.*190G>A (n.*190G>A) c.649G>A (n.649G>A) c.624G>A (p.Lys208=) c.513G>A (p.Lys171=) c.390G>A (p.Lys130=) n.649G>A c.*67G>A (n.*67G>A) | dbSNP |
| 3 | g.10149836G>C | CA351756203 | VHL | c.*190G>C (n.*190G>C) c.649G>C (n.649G>C) c.624G>C (p.Lys208Asn) c.513G>C (p.Lys171Asn) c.390G>C (p.Lys130Asn) n.649G>C c.*67G>C (n.*67G>C) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10149836G= | CA1345062414 | VHL | c.*190G= (n.*190G=) c.649G= (n.649G=) c.624G= (p.Lys208=) c.513G= (p.Lys171=) c.390G= (p.Lys130=) n.649G= c.*67G= (n.*67G=) | |
| 3 | g.10149836G>T | CA351756204 | VHL | c.*190G>T (n.*190G>T) c.649G>T (n.649G>T) c.624G>T (p.Lys208Asn) c.513G>T (p.Lys171Asn) c.390G>T (p.Lys130Asn) n.649G>T c.*67G>T (n.*67G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149836_10149838del | CA2573105934 | VHL | c.*190_*192del (n.*190_*192del) c.649_651del (n.649_651del) c.624_626del (p.Lys208_Pro209delinsAsn) c.513_515del (p.Lys171_Pro172delinsAsn) c.390_392del (p.Lys130_Pro131delinsAsn) n.649_651del c.*67_*69del (n.*67_*69del) | |
| 3 | g.10149837_10149840del | CA645525086 | VHL | c.*191_*194del (n.*191_*194del) c.650_653del (n.650_653del) c.625_628del (p.Pro209ArgfsTer29) c.514_517del (p.Pro172ArgfsTer29) c.391_394del (p.Pro131ArgfsTer29) n.650_653del c.*68_*71del (n.*68_*71del) | COSMIC |
| 3 | g.10149837C>A | CA351756205 | VHL | c.*191C>A (n.*191C>A) c.650C>A (n.650C>A) c.625C>A (p.Pro209Thr) c.514C>A (p.Pro172Thr) c.391C>A (p.Pro131Thr) n.650C>A c.*68C>A (n.*68C>A) | dbSNP gnomAD v2 |
| 3 | g.10149837C= | CA1345062418 | VHL | c.*191C= (n.*191C=) c.650C= (n.650C=) c.625C= (p.Pro209=) c.514C= (p.Pro172=) c.391C= (p.Pro131=) n.650C= c.*68C= (n.*68C=) | |
| 3 | g.10149837C>G | CA351756206 | VHL | c.*191C>G (n.*191C>G) c.650C>G (n.650C>G) c.625C>G (p.Pro209Ala) c.514C>G (p.Pro172Ala) c.391C>G (p.Pro131Ala) n.650C>G c.*68C>G (n.*68C>G) | dbSNP |
| 3 | g.10149837C>T | CA351756207 | VHL | c.*191C>T (n.*191C>T) c.650C>T (n.650C>T) c.625C>T (p.Pro209Ser) c.514C>T (p.Pro172Ser) c.391C>T (p.Pro131Ser) n.650C>T c.*68C>T (n.*68C>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149838del | CA432423368 | VHL | c.*192del (n.*192del) c.651del (n.651del) c.626del (p.Pro209LeufsTer30) c.515del (p.Pro172LeufsTer30) c.392del (p.Pro131LeufsTer30) n.651del c.*69del (n.*69del) | COSMIC COSMIC |
| 3 | g.10149838C>A | CA351756208 | VHL | c.*192C>A (n.*192C>A) c.651C>A (n.651C>A) c.626C>A (p.Pro209His) c.515C>A (p.Pro172His) c.392C>A (p.Pro131His) n.651C>A c.*69C>A (n.*69C>A) | dbSNP |
| 3 | g.10149838C= | CA1345062423 | VHL | c.*192C= (n.*192C=) c.651C= (n.651C=) c.626C= (p.Pro209=) c.515C= (p.Pro172=) c.392C= (p.Pro131=) n.651C= c.*69C= (n.*69C=) | |
| 3 | g.10149838C>G | CA351756209 | VHL | c.*192C>G (n.*192C>G) c.651C>G (n.651C>G) c.626C>G (p.Pro209Arg) c.515C>G (p.Pro172Arg) c.392C>G (p.Pro131Arg) n.651C>G c.*69C>G (n.*69C>G) | ClinVar dbSNP |
| 3 | g.10149838C>T | CA351756210 | VHL | c.*192C>T (n.*192C>T) c.651C>T (n.651C>T) c.626C>T (p.Pro209Leu) c.515C>T (p.Pro172Leu) c.392C>T (p.Pro131Leu) n.651C>T c.*69C>T (n.*69C>T) | ClinVar dbSNP |
| 3 | g.10149839_10149848del | CA645525087 | VHL | c.*193_*202del (n.*193_*202del) c.652_661del (n.652_661del) c.627_636del (p.Glu210GlyfsTer26) c.516_525del (p.Glu173GlyfsTer26) c.393_402del (p.Glu132GlyfsTer26) n.652_661del c.*70_*79del (n.*70_*79del) | COSMIC |
| 3 | g.10149838_10149839insA | CA645525090 | VHL | c.*192_*193insA (n.*192_*193insA) c.651_652insA (n.651_652insA) c.626_627insA (p.Glu210Ter) c.515_516insA (p.Glu173Ter) c.392_393insA (p.Glu132Ter) n.651_652insA c.*69_*70insA (n.*69_*70insA) | COSMIC |
| 3 | g.10149839del | CA645525089 | VHL | c.*193del (n.*193del) c.652del (n.652del) c.627del (p.Glu210ArgfsTer29) c.516del (p.Glu173ArgfsTer29) c.393del (p.Glu132ArgfsTer29) n.652del c.*70del (n.*70del) | COSMIC |
| 3 | g.10149839T>A | CA432423377 | VHL | c.*193T>A (n.*193T>A) c.652T>A (n.652T>A) c.627T>A (p.Pro209=) c.516T>A (p.Pro172=) c.393T>A (p.Pro131=) n.652T>A c.*70T>A (n.*70T>A) | dbSNP |
| 3 | g.10149839T>C | CA432423376 | VHL | c.*193T>C (n.*193T>C) c.652T>C (n.652T>C) c.627T>C (p.Pro209=) c.516T>C (p.Pro172=) c.393T>C (p.Pro131=) n.652T>C c.*70T>C (n.*70T>C) | dbSNP |
| 3 | g.10149839T>G | CA432423375 | VHL | c.*193T>G (n.*193T>G) c.652T>G (n.652T>G) c.627T>G (p.Pro209=) c.516T>G (p.Pro172=) c.393T>G (p.Pro131=) n.652T>G c.*70T>G (n.*70T>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149839T= | CA1345062428 | VHL | c.*193T= (n.*193T=) c.652T= (n.652T=) c.627T= (p.Pro209=) c.516T= (p.Pro172=) c.393T= (p.Pro131=) n.652T= c.*70T= (n.*70T=) | |
| 3 | g.10149839_10149840dup | CA2499306821 | VHL | c.*193_*194dup (n.*193_*194dup) c.652_653dup (n.652_653dup) c.627_628dup (p.Glu210ValfsTer30) c.516_517dup (p.Glu173ValfsTer30) c.393_394dup (p.Glu132ValfsTer30) n.652_653dup c.*70_*71dup (n.*70_*71dup) | |
| 3 | g.10149840_10149845del | CA645525088 | VHL | c.*194_*199del (n.*194_*199del) c.653_658del (n.653_658del) c.628_633del (p.Glu210_Asn211del) c.517_522del (p.Glu173_Asn174del) c.394_399del (p.Glu132_Asn133del) n.653_658del c.*71_*76del (n.*71_*76del) | COSMIC |
| 3 | g.10149840G>A | CA351756211 | VHL | c.*194G>A (n.*194G>A) c.653G>A (n.653G>A) c.628G>A (p.Glu210Lys) c.517G>A (p.Glu173Lys) c.394G>A (p.Glu132Lys) n.653G>A c.*71G>A (n.*71G>A) | |
| 3 | g.10149840G>C | CA351756212 | VHL | c.*194G>C (n.*194G>C) c.653G>C (n.653G>C) c.628G>C (p.Glu210Gln) c.517G>C (p.Glu173Gln) c.394G>C (p.Glu132Gln) n.653G>C c.*71G>C (n.*71G>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149840G= | CA1345062433 | VHL | c.*194G= (n.*194G=) c.653G= (n.653G=) c.628G= (p.Glu210=) c.517G= (p.Glu173=) c.394G= (p.Glu132=) n.653G= c.*71G= (n.*71G=) | |
| 3 | g.10149840G>T | CA351756213 | VHL | c.*194G>T (n.*194G>T) c.653G>T (n.653G>T) c.628G>T (p.Glu210Ter) c.517G>T (p.Glu173Ter) c.394G>T (p.Glu132Ter) n.653G>T c.*71G>T (n.*71G>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149840dup | CA645525092 | VHL | c.*194dup (n.*194dup) c.653dup (n.653dup) c.628dup (p.Glu210GlyfsTer?) c.517dup (p.Glu173GlyfsTer?) c.394dup (p.Glu132GlyfsTer?) n.653dup c.*71dup (n.*71dup) | COSMIC |
| 3 | g.10149842_10149843del | CA645525091 | VHL | c.*196_*197del (n.*196_*197del) c.655_656del (n.655_656del) c.630_631del (p.Asn211LeufsTer?) c.519_520del (p.Asn174LeufsTer?) c.396_397del (p.Asn133LeufsTer?) n.655_656del c.*73_*74del (n.*73_*74del) | COSMIC |
| 3 | g.10149844_10149854del | CA2739292378 | VHL | c.*198_*208del (n.*198_*208del) c.657_667del (n.657_667del) c.632_642del (p.Asn211ThrfsTer?) c.521_531del (p.Asn174ThrfsTer?) c.398_408del (p.Asn133ThrfsTer?) n.657_667del c.*75_*85del (n.*75_*85del) | |
| 3 | g.10149841A>C | CA351756215 | VHL | c.*195A>C (n.*195A>C) c.654A>C (n.654A>C) c.629A>C (p.Glu210Ala) c.518A>C (p.Glu173Ala) c.395A>C (p.Glu132Ala) n.654A>C c.*72A>C (n.*72A>C) | dbSNP |
| 3 | g.10149841A>G | CA351756216 | VHL | c.*195A>G (n.*195A>G) c.654A>G (n.654A>G) c.629A>G (p.Glu210Gly) c.518A>G (p.Glu173Gly) c.395A>G (p.Glu132Gly) n.654A>G c.*72A>G (n.*72A>G) | dbSNP |
| 3 | g.10149841A>T | CA351756214 | VHL | c.*195A>T (n.*195A>T) c.654A>T (n.654A>T) c.629A>T (p.Glu210Val) c.518A>T (p.Glu173Val) c.395A>T (p.Glu132Val) n.654A>T c.*72A>T (n.*72A>T) | dbSNP |
| 3 | g.10149842G>A | CA432423397 | VHL | c.*196G>A (n.*196G>A) c.655G>A (n.655G>A) c.630G>A (p.Glu210=) c.519G>A (p.Glu173=) c.396G>A (p.Glu132=) n.655G>A c.*73G>A (n.*73G>A) | ClinVar dbSNP |
| 3 | g.10149842G>C | CA351756217 | VHL | c.*196G>C (n.*196G>C) c.655G>C (n.655G>C) c.630G>C (p.Glu210Asp) c.519G>C (p.Glu173Asp) c.396G>C (p.Glu132Asp) n.655G>C c.*73G>C (n.*73G>C) | ClinVar dbSNP |
| 3 | g.10149842G= | CA1345062437 | VHL | c.*196G= (n.*196G=) c.655G= (n.655G=) c.630G= (p.Glu210=) c.519G= (p.Glu173=) c.396G= (p.Glu132=) n.655G= c.*73G= (n.*73G=) | |
| 3 | g.10149842G>T | CA351756218 | VHL | c.*196G>T (n.*196G>T) c.655G>T (n.655G>T) c.630G>T (p.Glu210Asp) c.519G>T (p.Glu173Asp) c.396G>T (p.Glu132Asp) n.655G>T c.*73G>T (n.*73G>T) | dbSNP |
| 3 | g.10149842dup | CA432423394 | VHL | c.*196dup (n.*196dup) c.655dup (n.655dup) c.630dup (p.Asn211GlufsTer?) c.519dup (p.Asn174GlufsTer?) c.396dup (p.Asn133GlufsTer?) n.655dup c.*73dup (n.*73dup) | |
| 3 | g.10149843A= | CA1345062441 | VHL | c.*197A= (n.*197A=) c.656A= (n.656A=) c.631A= (p.Asn211=) c.520A= (p.Asn174=) c.397A= (p.Asn133=) n.656A= c.*74A= (n.*74A=) | |
| 3 | g.10149843A>C | CA351756219 | VHL | c.*197A>C (n.*197A>C) c.656A>C (n.656A>C) c.631A>C (p.Asn211His) c.520A>C (p.Asn174His) c.397A>C (p.Asn133His) n.656A>C c.*74A>C (n.*74A>C) | |
| 3 | g.10149843A>G | CA351756220 | VHL | c.*197A>G (n.*197A>G) c.656A>G (n.656A>G) c.631A>G (p.Asn211Asp) c.520A>G (p.Asn174Asp) c.397A>G (p.Asn133Asp) n.656A>G c.*74A>G (n.*74A>G) | COSMIC |
| 3 | g.10149843A>T | CA16611095 | VHL | c.*197A>T (n.*197A>T) c.656A>T (n.656A>T) c.631A>T (p.Asn211Tyr) c.520A>T (p.Asn174Tyr) c.397A>T (p.Asn133Tyr) n.656A>T c.*74A>T (n.*74A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149844dup | CA645525093 | VHL | c.*198dup (n.*198dup) c.657dup (n.657dup) c.632dup (p.Asn211LysfsTer?) c.521dup (p.Asn174LysfsTer?) c.398dup (p.Asn133LysfsTer?) n.657dup c.*75dup (n.*75dup) | COSMIC |
| 3 | g.10149843_10149844dup | CA2573051315 | VHL | c.*197_*198dup (n.*197_*198dup) c.656_657dup (n.656_657dup) c.631_632dup (p.Asn211LysfsTer29) c.520_521dup (p.Asn174LysfsTer29) c.397_398dup (p.Asn133LysfsTer29) n.656_657dup c.*74_*75dup (n.*74_*75dup) | |
| 3 | g.10149844del | CA432423410 | VHL | c.*198del (n.*198del) c.657del (n.657del) c.632del (p.Asn211IlefsTer28) c.521del (p.Asn174IlefsTer28) c.398del (p.Asn133IlefsTer28) n.657del c.*75del (n.*75del) | COSMIC |
| 3 | g.10149844A= | CA1345062447 | VHL | c.*198A= (n.*198A=) c.657A= (n.657A=) c.632A= (p.Asn211=) c.521A= (p.Asn174=) c.398A= (p.Asn133=) n.657A= c.*75A= (n.*75A=) | |
| 3 | g.10149844A>C | CA351756223 | VHL | c.*198A>C (n.*198A>C) c.657A>C (n.657A>C) c.632A>C (p.Asn211Thr) c.521A>C (p.Asn174Thr) c.398A>C (p.Asn133Thr) n.657A>C c.*75A>C (n.*75A>C) | |
| 3 | g.10149844A>G | CA351756221 | VHL | c.*198A>G (n.*198A>G) c.657A>G (n.657A>G) c.632A>G (p.Asn211Ser) c.521A>G (p.Asn174Ser) c.398A>G (p.Asn133Ser) n.657A>G c.*75A>G (n.*75A>G) | ClinVar dbSNP |
| 3 | g.10149844A>T | CA351756222 | VHL | c.*198A>T (n.*198A>T) c.657A>T (n.657A>T) c.632A>T (p.Asn211Ile) c.521A>T (p.Asn174Ile) c.398A>T (p.Asn133Ile) n.657A>T c.*75A>T (n.*75A>T) | dbSNP |
| 3 | g.10149844_10149845dup | CA645525094 | VHL | c.*198_*199dup (n.*198_*199dup) c.657_658dup (n.657_658dup) c.632_633dup (p.Tyr212IlefsTer28) c.521_522dup (p.Tyr175IlefsTer28) c.398_399dup (p.Tyr134IlefsTer28) n.657_658dup c.*75_*76dup (n.*75_*76dup) | COSMIC |
| 3 | g.10149845T>A | CA351756224 | VHL | c.*199T>A (n.*199T>A) c.658T>A (n.658T>A) c.633T>A (p.Asn211Lys) c.522T>A (p.Asn174Lys) c.399T>A (p.Asn133Lys) n.658T>A c.*76T>A (n.*76T>A) | dbSNP |
| 3 | g.10149845T>C | CA16604772 | VHL | c.*199T>C (n.*199T>C) c.658T>C (n.658T>C) c.633T>C (p.Asn211=) c.522T>C (p.Asn174=) c.399T>C (p.Asn133=) n.658T>C c.*76T>C (n.*76T>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149845T>G | CA351756225 | VHL | c.*199T>G (n.*199T>G) c.658T>G (n.658T>G) c.633T>G (p.Asn211Lys) c.522T>G (p.Asn174Lys) c.399T>G (p.Asn133Lys) n.658T>G c.*76T>G (n.*76T>G) | dbSNP gnomAD v4 |
| 3 | g.10149845T= | CA1345062452 | VHL | c.*199T= (n.*199T=) c.658T= (n.658T=) c.633T= (p.Asn211=) c.522T= (p.Asn174=) c.399T= (p.Asn133=) n.658T= c.*76T= (n.*76T=) | |
| 3 | g.10149846dup | CA432423422 | VHL | c.*200dup (n.*200dup) c.659dup (n.659dup) c.634dup (p.Tyr212LeufsTer?) c.523dup (p.Tyr175LeufsTer?) c.400dup (p.Tyr134LeufsTer?) n.659dup c.*77dup (n.*77dup) | COSMIC COSMIC |
| 3 | g.10149845_10149846dup | CA645525095 | VHL | c.*199_*200dup (n.*199_*200dup) c.658_659dup (n.658_659dup) c.633_634dup (p.Tyr212PhefsTer28) c.522_523dup (p.Tyr175PhefsTer28) c.399_400dup (p.Tyr134PhefsTer28) n.658_659dup c.*76_*77dup (n.*76_*77dup) | COSMIC |
| 3 | g.10149846del | CA432423423 | VHL | c.*200del (n.*200del) c.659del (n.659del) c.634del (p.Tyr212ThrfsTer27) c.523del (p.Tyr175ThrfsTer27) c.400del (p.Tyr134ThrfsTer27) n.659del c.*77del (n.*77del) | COSMIC |
| 3 | g.10149845_10149846insA | CA432423426 | VHL | c.*199_*200insA (n.*199_*200insA) c.658_659insA (n.658_659insA) c.633_634insA (p.Tyr212IlefsTer?) c.522_523insA (p.Tyr175IlefsTer?) c.399_400insA (p.Tyr134IlefsTer?) n.658_659insA c.*76_*77insA (n.*76_*77insA) | |
| 3 | g.10149846T>A | CA351756226 | VHL | c.*200T>A (n.*200T>A) c.659T>A (n.659T>A) c.634T>A (p.Tyr212Asn) c.523T>A (p.Tyr175Asn) c.400T>A (p.Tyr134Asn) n.659T>A c.*77T>A (n.*77T>A) | dbSNP |
| 3 | g.10149846T>C | CA351756227 | VHL | c.*200T>C (n.*200T>C) c.659T>C (n.659T>C) c.634T>C (p.Tyr212His) c.523T>C (p.Tyr175His) c.400T>C (p.Tyr134His) n.659T>C c.*77T>C (n.*77T>C) | |
| 3 | g.10149846T>G | CA351756228 | VHL | c.*200T>G (n.*200T>G) c.659T>G (n.659T>G) c.634T>G (p.Tyr212Asp) c.523T>G (p.Tyr175Asp) c.400T>G (p.Tyr134Asp) n.659T>G c.*77T>G (n.*77T>G) | COSMIC |
| 3 | g.10149847del | CA432423433 | VHL | c.*201del (n.*201del) c.660del (n.660del) c.635del (p.Tyr212SerfsTer27) c.524del (p.Tyr175SerfsTer27) c.401del (p.Tyr134SerfsTer27) n.660del c.*78del (n.*78del) | COSMIC |
| 3 | g.10149847A= | CA1345062460 | VHL | c.*201A= (n.*201A=) c.660A= (n.660A=) c.635A= (p.Tyr212=) c.524A= (p.Tyr175=) c.401A= (p.Tyr134=) n.660A= c.*78A= (n.*78A=) | |
| 3 | g.10149847A>C | CA351756229 | VHL | c.*201A>C (n.*201A>C) c.660A>C (n.660A>C) c.635A>C (p.Tyr212Ser) c.524A>C (p.Tyr175Ser) c.401A>C (p.Tyr134Ser) n.660A>C c.*78A>C (n.*78A>C) | dbSNP |
| 3 | g.10149847A>G | CA020462 | VHL | c.*201A>G (n.*201A>G) c.660A>G (n.660A>G) c.635A>G (p.Tyr212Cys) c.524A>G (p.Tyr175Cys) c.401A>G (p.Tyr134Cys) n.660A>G c.*78A>G (n.*78A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149847A>T | CA351756230 | VHL | c.*201A>T (n.*201A>T) c.660A>T (n.660A>T) c.635A>T (p.Tyr212Phe) c.524A>T (p.Tyr175Phe) c.401A>T (p.Tyr134Phe) n.660A>T c.*78A>T (n.*78A>T) | ClinVar dbSNP |
| 3 | g.10149847dup | CA2580068484 | VHL | c.*201dup (n.*201dup) c.660dup (n.660dup) c.635dup (p.Tyr212Ter) c.524dup (p.Tyr175Ter) c.401dup (p.Tyr134Ter) n.660dup c.*78dup (n.*78dup) | ClinVar |
| 3 | g.10149847_10149850del | CA2580068483 | VHL | c.*201_*204del (n.*201_*204del) c.660_663del (n.660_663del) c.635_638del (p.Tyr212Ter) c.524_527del (p.Tyr175Ter) c.401_404del (p.Tyr134Ter) n.660_663del c.*78_*81del (n.*78_*81del) | ClinVar |
| 3 | g.10149848_10149852del | CA645529518 | VHL | c.*202_*206del (n.*202_*206del) c.661_665del (n.661_665del) c.636_640del (p.Tyr212Ter) c.525_529del (p.Tyr175Ter) c.402_406del (p.Tyr134Ter) n.661_665del c.*79_*83del (n.*79_*83del) | COSMIC |
| 3 | g.10149849_10149855del | CA645529519 | VHL | c.*203_*209del (n.*203_*209del) c.662_668del (n.662_668del) c.637_643del (p.Arg213TrpfsTer24) c.526_532del (p.Arg176TrpfsTer24) c.403_409del (p.Arg135TrpfsTer24) n.662_668del c.*80_*86del (n.*80_*86del) | COSMIC |
| 3 | g.10149847_10149848insT | CA432423440 | VHL | c.*201_*202insT (n.*201_*202insT) c.660_661insT (n.660_661insT) c.635_636insT (p.Arg213GlnfsTer?) c.524_525insT (p.Arg176GlnfsTer?) c.401_402insT (p.Arg135GlnfsTer?) n.660_661insT c.*78_*79insT (n.*78_*79insT) | |
| 3 | g.10149848del | CA913185019 | VHL | c.*202del (n.*202del) c.661del (n.661del) c.636del (p.Tyr212Ter) c.525del (p.Tyr175Ter) c.402del (p.Tyr134Ter) n.661del c.*79del (n.*79del) | |
| 3 | g.10149848C>A | CA351756231 | VHL | c.*202C>A (n.*202C>A) c.661C>A (n.661C>A) c.636C>A (p.Tyr212Ter) c.525C>A (p.Tyr175Ter) c.402C>A (p.Tyr134Ter) n.661C>A c.*79C>A (n.*79C>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149848C= | CA1345062464 | VHL | c.*202C= (n.*202C=) c.661C= (n.661C=) c.636C= (p.Tyr212=) c.525C= (p.Tyr175=) c.402C= (p.Tyr134=) n.661C= c.*79C= (n.*79C=) | |
| 3 | g.10149848C>G | CA020466 | VHL | c.*202C>G (n.*202C>G) c.661C>G (n.661C>G) c.636C>G (p.Tyr212Ter) c.525C>G (p.Tyr175Ter) c.402C>G (p.Tyr134Ter) n.661C>G c.*79C>G (n.*79C>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149848C>T | CA432423437 | VHL | c.*202C>T (n.*202C>T) c.661C>T (n.661C>T) c.636C>T (p.Tyr212=) c.525C>T (p.Tyr175=) c.402C>T (p.Tyr134=) n.661C>T c.*79C>T (n.*79C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149848_10149849delinsCA | CA1345062469 | VHL | c.*202_*203delinsCA (n.*202_*203delinsCA) c.661_662delinsCA (n.661_662delinsCA) c.636_637delinsCA (p.Tyr212=) c.525_526delinsCA (p.Tyr175=) c.402_403delinsCA (p.Tyr134=) n.661_662delinsCA c.*79_*80delinsCA (n.*79_*80delinsCA) | |
| 3 | g.10149848_10149855del | CA645529521 | VHL | c.*202_*209del (n.*202_*209del) c.661_668del (n.661_668del) c.636_643del (p.Arg213GlyfsTer?) c.525_532del (p.Arg176GlyfsTer?) c.402_409del (p.Arg135GlyfsTer?) n.661_668del c.*79_*86del (n.*79_*86del) | COSMIC |
| 3 | g.10149848_10149856del | CA645529520 | VHL | c.*202_*210del (n.*202_*210del) c.661_669del (n.661_669del) c.636_644del (p.Tyr212Ter) c.525_533del (p.Tyr175Ter) c.402_410del (p.Tyr134Ter) n.661_669del c.*79_*87del (n.*79_*87del) | COSMIC |
| 3 | g.10149852_10149869dup | CA2580068485 | VHL | c.*206_*223dup (n.*206_*223dup) c.665_682dup (n.665_682dup) c.640_657dup (p.Arg219_Ser220insArgLeuAspIleValArg) c.529_546dup (p.Arg182_Ser183insArgLeuAspIleValArg) c.406_423dup (p.Arg141_Ser142insArgLeuAspIleValArg) n.665_682dup c.*83_*100dup (n.*83_*100dup) | ClinVar |
| 3 | g.10149849del | CA16602180 | VHL | c.*203del (n.*203del) c.662del (n.662del) c.637del (p.Arg213GlyfsTer26) c.526del (p.Arg176GlyfsTer26) c.403del (p.Arg135GlyfsTer26) n.662del c.*80del (n.*80del) | ClinVar dbSNP |
| 3 | g.10149849A= | CA1345062476 | VHL | c.*203A= (n.*203A=) c.662A= (n.662A=) c.637A= (p.Arg213=) c.526A= (p.Arg176=) c.403A= (p.Arg135=) n.662A= c.*80A= (n.*80A=) | |
| 3 | g.10149849A>C | CA432423442 | VHL | c.*203A>C (n.*203A>C) c.662A>C (n.662A>C) c.637A>C (p.Arg213=) c.526A>C (p.Arg176=) c.403A>C (p.Arg135=) n.662A>C c.*80A>C (n.*80A>C) | |
| 3 | g.10149849A>G | CA351756232 | VHL | c.*203A>G (n.*203A>G) c.662A>G (n.662A>G) c.637A>G (p.Arg213Gly) c.526A>G (p.Arg176Gly) c.403A>G (p.Arg135Gly) n.662A>G c.*80A>G (n.*80A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149849A>T | CA351756233 | VHL | c.*203A>T (n.*203A>T) c.662A>T (n.662A>T) c.637A>T (p.Arg213Trp) c.526A>T (p.Arg176Trp) c.403A>T (p.Arg135Trp) n.662A>T c.*80A>T (n.*80A>T) | COSMIC |
| 3 | g.10149849_10149856delinsAGGAGACT | CA1345062480 | VHL | c.*203_*210delinsAGGAGACT (n.*203_*210delinsAGGAGACT) c.662_669delinsAGGAGACT (n.662_669delinsAGGAGACT) c.637_644delinsAGGAGACT (p.Arg213=) c.526_533delinsAGGAGACT (p.Arg176=) c.403_410delinsAGGAGACT (p.Arg135=) n.662_669delinsAGGAGACT c.*80_*87delinsAGGAGACT (n.*80_*87delinsAGGAGACT) | |
| 3 | g.10149850G>A | CA351756234 | VHL | c.*204G>A (n.*204G>A) c.663G>A (n.663G>A) c.638G>A (p.Arg213Lys) c.527G>A (p.Arg176Lys) c.404G>A (p.Arg135Lys) n.663G>A c.*81G>A (n.*81G>A) | dbSNP gnomAD v4 COSMIC |
| 3 | g.10149850G>C | CA351756235 | VHL | c.*204G>C (n.*204G>C) c.663G>C (n.663G>C) c.638G>C (p.Arg213Thr) c.527G>C (p.Arg176Thr) c.404G>C (p.Arg135Thr) n.663G>C c.*81G>C (n.*81G>C) | dbSNP |
| 3 | g.10149850G>T | CA351756236 | VHL | c.*204G>T (n.*204G>T) c.663G>T (n.663G>T) c.638G>T (p.Arg213Met) c.527G>T (p.Arg176Met) c.404G>T (p.Arg135Met) n.663G>T c.*81G>T (n.*81G>T) | dbSNP |
| 3 | g.10149851del | CA432423454 | VHL | c.*205del (n.*205del) c.664del (n.664del) c.639del (p.Arg214AspfsTer25) c.528del (p.Arg177AspfsTer25) c.405del (p.Arg136AspfsTer25) n.664del c.*82del (n.*82del) | COSMIC COSMIC |
| 3 | g.10149853_10149859del | CA915941845 | VHL | c.*207_*213del (n.*207_*213del) c.666_672del (n.666_672del) c.641_647del (p.Arg214ThrfsTer23) c.530_536del (p.Arg177ThrfsTer23) c.407_413del (p.Arg136ThrfsTer23) n.666_672del c.*84_*90del (n.*84_*90del) | ClinVar dbSNP |
| 3 | g.10149851G>A | CA432423456 | VHL | c.*205G>A (n.*205G>A) c.664G>A (n.664G>A) c.639G>A (p.Arg213=) c.528G>A (p.Arg176=) c.405G>A (p.Arg135=) n.664G>A c.*82G>A (n.*82G>A) | dbSNP |
| 3 | g.10149851G>C | CA351756237 | VHL | c.*205G>C (n.*205G>C) c.664G>C (n.664G>C) c.639G>C (p.Arg213Ser) c.528G>C (p.Arg176Ser) c.405G>C (p.Arg135Ser) n.664G>C c.*82G>C (n.*82G>C) | dbSNP |
| 3 | g.10149851G= | CA1345062486 | VHL | c.*205G= (n.*205G=) c.664G= (n.664G=) c.639G= (p.Arg213=) c.528G= (p.Arg176=) c.405G= (p.Arg135=) n.664G= c.*82G= (n.*82G=) | |
| 3 | g.10149851G>T | CA041381 | VHL | c.*205G>T (n.*205G>T) c.664G>T (n.664G>T) c.639G>T (p.Arg213Ser) c.528G>T (p.Arg176Ser) c.405G>T (p.Arg135Ser) n.664G>T c.*82G>T (n.*82G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10149853_10149854del | CA645529522 | VHL | c.*207_*208del (n.*207_*208del) c.666_667del (n.666_667del) c.641_642del (p.Arg214ThrfsTer?) c.530_531del (p.Arg177ThrfsTer?) c.407_408del (p.Arg136ThrfsTer?) n.666_667del c.*84_*85del (n.*84_*85del) | COSMIC COSMIC |
| 3 | g.10149852del | CA432423464 | VHL | c.*206del (n.*206del) c.665del (n.665del) c.640del (p.Arg214AspfsTer25) c.529del (p.Arg177AspfsTer25) c.406del (p.Arg136AspfsTer25) n.665del c.*83del (n.*83del) | COSMIC |
| 3 | g.10149852A= | CA1345062488 | VHL | c.*206A= (n.*206A=) c.665A= (n.665A=) c.640A= (p.Arg214=) c.529A= (p.Arg177=) c.406A= (p.Arg136=) n.665A= c.*83A= (n.*83A=) | |
| 3 | g.10149852A>C | CA432423462 | VHL | c.*206A>C (n.*206A>C) c.665A>C (n.665A>C) c.640A>C (p.Arg214=) c.529A>C (p.Arg177=) c.406A>C (p.Arg136=) n.665A>C c.*83A>C (n.*83A>C) | gnomAD v4 |
| 3 | g.10149852A>G | CA351756238 | VHL | c.*206A>G (n.*206A>G) c.665A>G (n.665A>G) c.640A>G (p.Arg214Gly) c.529A>G (p.Arg177Gly) c.406A>G (p.Arg136Gly) n.665A>G c.*83A>G (n.*83A>G) | |
| 3 | g.10149852A>T | CA351756239 | VHL | c.*206A>T (n.*206A>T) c.665A>T (n.665A>T) c.640A>T (p.Arg214Ter) c.529A>T (p.Arg177Ter) c.406A>T (p.Arg136Ter) n.665A>T c.*83A>T (n.*83A>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149853G>A | CA351756241 | VHL | c.*207G>A (n.*207G>A) c.666G>A (n.666G>A) c.641G>A (p.Arg214Lys) c.530G>A (p.Arg177Lys) c.407G>A (p.Arg136Lys) n.666G>A c.*84G>A (n.*84G>A) | dbSNP |
| 3 | g.10149853G>C | CA351756242 | VHL | c.*207G>C (n.*207G>C) c.666G>C (n.666G>C) c.641G>C (p.Arg214Thr) c.530G>C (p.Arg177Thr) c.407G>C (p.Arg136Thr) n.666G>C c.*84G>C (n.*84G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149853G= | CA1345062494 | VHL | c.*207G= (n.*207G=) c.666G= (n.666G=) c.641G= (p.Arg214=) c.530G= (p.Arg177=) c.407G= (p.Arg136=) n.666G= c.*84G= (n.*84G=) | |
| 3 | g.10149853G>T | CA351756240 | VHL | c.*207G>T (n.*207G>T) c.666G>T (n.666G>T) c.641G>T (p.Arg214Ile) c.530G>T (p.Arg177Ile) c.407G>T (p.Arg136Ile) n.666G>T c.*84G>T (n.*84G>T) | dbSNP gnomAD v4 |
| 3 | g.10149853dup | CA432423467 | VHL | c.*207dup (n.*207dup) c.666dup (n.666dup) c.641dup (p.Leu215ThrfsTer?) c.530dup (p.Leu178ThrfsTer?) c.407dup (p.Leu137ThrfsTer?) n.666dup c.*84dup (n.*84dup) | |
| 3 | g.10149853_10149858delinsC | CA645529523 | VHL | c.*207_*212delinsC (n.*207_*212delinsC) c.666_671delinsC (n.666_671delinsC) c.641_646delinsC (p.Arg214ThrfsTer?) c.530_535delinsC (p.Arg177ThrfsTer?) c.407_412delinsC (p.Arg136ThrfsTer?) n.666_671delinsC c.*84_*89delinsC (n.*84_*89delinsC) | COSMIC |
| 3 | g.10149853_10149865delinsGACTGGACATCGT | CA1345062496 | VHL | c.*207_*219delinsGACTGGACATCGT (n.*207_*219delinsGACTGGACATCGT) c.666_678delinsGACTGGACATCGT (n.666_678delinsGACTGGACATCGT) c.641_653delinsGACTGGACATCGT (p.Arg214=) c.530_542delinsGACTGGACATCGT (p.Arg177=) c.407_419delinsGACTGGACATCGT (p.Arg136=) n.666_678delinsGACTGGACATCGT c.*84_*96delinsGACTGGACATCGT (n.*84_*96delinsGACTGGACATCGT) | |
| 3 | g.10149854A= | CA1345062501 | VHL | c.*208A= (n.*208A=) c.667A= (n.667A=) c.642A= (p.Arg214=) c.531A= (p.Arg177=) c.408A= (p.Arg136=) n.667A= c.*85A= (n.*85A=) | |
| 3 | g.10149854A>C | CA351756243 | VHL | c.*208A>C (n.*208A>C) c.667A>C (n.667A>C) c.642A>C (p.Arg214Ser) c.531A>C (p.Arg177Ser) c.408A>C (p.Arg136Ser) n.667A>C c.*85A>C (n.*85A>C) | |
| 3 | g.10149854A>G | CA041395 | VHL | c.*208A>G (n.*208A>G) c.667A>G (n.667A>G) c.642A>G (p.Arg214=) c.531A>G (p.Arg177=) c.408A>G (p.Arg136=) n.667A>G c.*85A>G (n.*85A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149854A>T | CA041420 | VHL | c.*208A>T (n.*208A>T) c.667A>T (n.667A>T) c.642A>T (p.Arg214Ser) c.531A>T (p.Arg177Ser) c.408A>T (p.Arg136Ser) n.667A>T c.*85A>T (n.*85A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10149857_10149858insAGAGTAAAGCCTGAACTG | CA2573130363 | VHL | c.*211_*212insAGAGTAAAGCCTGAACTG (n.*211_*212insAGAGTAAAGCCTGAACTG) c.670_671insAGAGTAAAGCCTGAACTG (n.670_671insAGAGTAAAGCCTGAACTG) c.645_646insAGAGTAAAGCCTGAACTG (p.Leu215_Asp216insArgValLysProGluLeu) c.534_535insAGAGTAAAGCCTGAACTG (p.Leu178_Asp179insArgValLysProGluLeu) c.411_412insAGAGTAAAGCCTGAACTG (p.Leu137_Asp138insArgValLysProGluLeu) n.670_671insAGAGTAAAGCCTGAACTG c.*88_*89insAGAGTAAAGCCTGAACTG (n.*88_*89insAGAGTAAAGCCTGAACTG) | |
| 3 | g.10149854_10149865delinsTC | CA658822549 | VHL | c.*208_*219delinsTC (n.*208_*219delinsTC) c.667_678delinsTC (n.667_678delinsTC) c.642_653delinsTC (p.Arg214SerfsTer22) c.531_542delinsTC (p.Arg177SerfsTer22) c.408_419delinsTC (p.Arg136SerfsTer22) n.667_678delinsTC c.*85_*96delinsTC (n.*85_*96delinsTC) | ClinVar dbSNP |
| 3 | g.10149854_10149867del | CA2573105861 | VHL | c.*208_*221del (n.*208_*221del) c.667_680del (n.667_680del) c.642_655del (p.Leu215ValfsTer?) c.531_544del (p.Leu178ValfsTer?) c.408_421del (p.Leu137ValfsTer?) n.667_680del c.*85_*98del (n.*85_*98del) | |
| 3 | g.10149855del | CA432423480 | VHL | c.*209del (n.*209del) c.668del (n.668del) c.643del (p.Leu215TrpfsTer24) c.532del (p.Leu178TrpfsTer24) c.409del (p.Leu137TrpfsTer24) n.668del c.*86del (n.*86del) | COSMIC |
| 3 | g.10149855C>A | CA351756244 | VHL | c.*209C>A (n.*209C>A) c.668C>A (n.668C>A) c.643C>A (p.Leu215Met) c.532C>A (p.Leu178Met) c.409C>A (p.Leu137Met) n.668C>A c.*86C>A (n.*86C>A) | dbSNP |
| 3 | g.10149855C= | CA1345062509 | VHL | c.*209C= (n.*209C=) c.668C= (n.668C=) c.643C= (p.Leu215=) c.532C= (p.Leu178=) c.409C= (p.Leu137=) n.668C= c.*86C= (n.*86C=) | |
| 3 | g.10149855C>G | CA041435 | VHL | c.*209C>G (n.*209C>G) c.668C>G (n.668C>G) c.643C>G (p.Leu215Val) c.532C>G (p.Leu178Val) c.409C>G (p.Leu137Val) n.668C>G c.*86C>G (n.*86C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10149855C>T | CA432423478 | VHL | c.*209C>T (n.*209C>T) c.668C>T (n.668C>T) c.643C>T (p.Leu215=) c.532C>T (p.Leu178=) c.409C>T (p.Leu137=) n.668C>T c.*86C>T (n.*86C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149855dup | CA645529524 | VHL | c.*209dup (n.*209dup) c.668dup (n.668dup) c.643dup (p.Leu215ProfsTer?) c.532dup (p.Leu178ProfsTer?) c.409dup (p.Leu137ProfsTer?) n.668dup c.*86dup (n.*86dup) | COSMIC |
| 3 | g.10149855_10149857delinsCTG | CA1345062510 | VHL | c.*209_*211delinsCTG (n.*209_*211delinsCTG) c.668_670delinsCTG (n.668_670delinsCTG) c.643_645delinsCTG (p.Leu215=) c.532_534delinsCTG (p.Leu178=) c.409_411delinsCTG (p.Leu137=) n.668_670delinsCTG c.*86_*88delinsCTG (n.*86_*88delinsCTG) | |
| 3 | g.10149855_10149865delinsATTA | CA2499306820 | VHL | c.*209_*219delinsATTA (n.*209_*219delinsATTA) c.668_678delinsATTA (n.668_678delinsATTA) c.643_653delinsATTA (p.Leu215IlefsTer22) c.532_542delinsATTA (p.Leu178IlefsTer22) c.409_419delinsATTA (p.Leu137IlefsTer22) n.668_678delinsATTA c.*86_*96delinsATTA (n.*86_*96delinsATTA) | |
| 3 | g.10149856T>A | CA70052370 | VHL | c.*210T>A (n.*210T>A) c.669T>A (n.669T>A) c.644T>A (p.Leu215Gln) c.533T>A (p.Leu178Gln) c.410T>A (p.Leu137Gln) n.669T>A c.*87T>A (n.*87T>A) | ClinVar dbSNP |
| 3 | g.10149856T>C | CA351756245 | VHL | c.*210T>C (n.*210T>C) c.669T>C (n.669T>C) c.644T>C (p.Leu215Pro) c.533T>C (p.Leu178Pro) c.410T>C (p.Leu137Pro) n.669T>C c.*87T>C (n.*87T>C) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10149856T>G | CA351756248 | VHL | c.*210T>G (n.*210T>G) c.669T>G (n.669T>G) c.644T>G (p.Leu215Arg) c.533T>G (p.Leu178Arg) c.410T>G (p.Leu137Arg) n.669T>G c.*87T>G (n.*87T>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149856T= | CA1345062520 | VHL | c.*210T= (n.*210T=) c.669T= (n.669T=) c.644T= (p.Leu215=) c.533T= (p.Leu178=) c.410T= (p.Leu137=) n.669T= c.*87T= (n.*87T=) | |
| 3 | g.10149856dup | CA645529526 | VHL | c.*210dup (n.*210dup) c.669dup (n.669dup) c.644dup (p.Asp216GlyfsTer?) c.533dup (p.Asp179GlyfsTer?) c.410dup (p.Asp138GlyfsTer?) n.669dup c.*87dup (n.*87dup) | COSMIC |
| 3 | g.10149856_10149857del | CA645509027 | VHL | c.*210_*211del (n.*210_*211del) c.669_670del (n.669_670del) c.644_645del (p.Leu215ArgfsTer?) c.533_534del (p.Leu178ArgfsTer?) c.410_411del (p.Leu137ArgfsTer?) n.669_670del c.*87_*88del (n.*87_*88del) | ClinVar dbSNP COSMIC |
| 3 | g.10149856_10149867del | CA645529525 | VHL | c.*210_*221del (n.*210_*221del) c.669_680del (n.669_680del) c.644_655del (p.Leu215_Val218del) c.533_544del (p.Leu178_Val181del) c.410_421del (p.Leu137_Val140del) n.669_680del c.*87_*98del (n.*87_*98del) | COSMIC |
| 3 | g.10149856_10149857insC | CA432423500 | VHL | c.*210_*211insC (n.*210_*211insC) c.669_670insC (n.669_670insC) c.644_645insC (p.Asp216GlyfsTer?) c.533_534insC (p.Asp179GlyfsTer?) c.410_411insC (p.Asp138GlyfsTer?) n.669_670insC c.*87_*88insC (n.*87_*88insC) | |
| 3 | g.10149857G>A | CA432423498 | VHL | c.*211G>A (n.*211G>A) c.670G>A (n.670G>A) c.645G>A (p.Leu215=) c.534G>A (p.Leu178=) c.411G>A (p.Leu137=) n.670G>A c.*88G>A (n.*88G>A) | |
| 3 | g.10149857G>C | CA432423489 | VHL | c.*211G>C (n.*211G>C) c.670G>C (n.670G>C) c.645G>C (p.Leu215=) c.534G>C (p.Leu178=) c.411G>C (p.Leu137=) n.670G>C c.*88G>C (n.*88G>C) | |
| 3 | g.10149857G>T | CA432423495 | VHL | c.*211G>T (n.*211G>T) c.670G>T (n.670G>T) c.645G>T (p.Leu215=) c.534G>T (p.Leu178=) c.411G>T (p.Leu137=) n.670G>T c.*88G>T (n.*88G>T) | |
| 3 | g.10149858dup | CA645529527 | VHL | c.*212dup (n.*212dup) c.671dup (n.671dup) c.646dup (p.Asp216GlyfsTer?) c.535dup (p.Asp179GlyfsTer?) c.412dup (p.Asp138GlyfsTer?) n.671dup c.*89dup (n.*89dup) | COSMIC |
| 3 | g.10149858del | CA432423491 | VHL | c.*212del (n.*212del) c.671del (n.671del) c.646del (p.Asp216ThrfsTer23) c.535del (p.Asp179ThrfsTer23) c.412del (p.Asp138ThrfsTer23) n.671del c.*89del (n.*89del) | COSMIC COSMIC |
| 3 | g.10149857_10149858insT | CA432423503 | VHL | c.*211_*212insT (n.*211_*212insT) c.670_671insT (n.670_671insT) c.645_646insT (p.Asp216Ter) c.534_535insT (p.Asp179Ter) c.411_412insT (p.Asp138Ter) n.670_671insT c.*88_*89insT (n.*88_*89insT) | |
| 3 | g.10149858G>A | CA041455 | VHL | c.*212G>A (n.*212G>A) c.671G>A (n.671G>A) c.646G>A (p.Asp216Asn) c.535G>A (p.Asp179Asn) c.412G>A (p.Asp138Asn) n.671G>A c.*89G>A (n.*89G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10149858G>C | CA351756252 | VHL | c.*212G>C (n.*212G>C) c.671G>C (n.671G>C) c.646G>C (p.Asp216His) c.535G>C (p.Asp179His) c.412G>C (p.Asp138His) n.671G>C c.*89G>C (n.*89G>C) | ClinVar dbSNP |
| 3 | g.10149858G= | CA1345062532 | VHL | c.*212G= (n.*212G=) c.671G= (n.671G=) c.646G= (p.Asp216=) c.535G= (p.Asp179=) c.412G= (p.Asp138=) n.671G= c.*89G= (n.*89G=) | |
| 3 | g.10149858G>T | CA351756254 | VHL | c.*212G>T (n.*212G>T) c.671G>T (n.671G>T) c.646G>T (p.Asp216Tyr) c.535G>T (p.Asp179Tyr) c.412G>T (p.Asp138Tyr) n.671G>T c.*89G>T (n.*89G>T) | dbSNP |
| 3 | g.10149859_10149864del | CA645529528 | VHL | c.*213_*218del (n.*213_*218del) c.672_677del (n.672_677del) c.647_652del (p.Asp216_Ile217del) c.536_541del (p.Asp179_Ile180del) c.413_418del (p.Asp138_Ile139del) n.672_677del c.*90_*95del (n.*90_*95del) | COSMIC |
| 3 | g.10149859del | CA432423514 | VHL | c.*213del (n.*213del) c.672del (n.672del) c.647del (p.Asp216AlafsTer23) c.536del (p.Asp179AlafsTer23) c.413del (p.Asp138AlafsTer23) n.672del c.*90del (n.*90del) | COSMIC |
| 3 | g.10149859A>C | CA351756258 | VHL | c.*213A>C (n.*213A>C) c.672A>C (n.672A>C) c.647A>C (p.Asp216Ala) c.536A>C (p.Asp179Ala) c.413A>C (p.Asp138Ala) n.672A>C c.*90A>C (n.*90A>C) | COSMIC |
| 3 | g.10149859A>G | CA351756260 | VHL | c.*213A>G (n.*213A>G) c.672A>G (n.672A>G) c.647A>G (p.Asp216Gly) c.536A>G (p.Asp179Gly) c.413A>G (p.Asp138Gly) n.672A>G c.*90A>G (n.*90A>G) | dbSNP |
| 3 | g.10149859A>T | CA351756262 | VHL | c.*213A>T (n.*213A>T) c.672A>T (n.672A>T) c.647A>T (p.Asp216Val) c.536A>T (p.Asp179Val) c.413A>T (p.Asp138Val) n.672A>T c.*90A>T (n.*90A>T) | dbSNP |
| 3 | g.10149860_10149861del | CA645529529 | VHL | c.*214_*215del (n.*214_*215del) c.673_674del (n.673_674del) c.648_649del (p.Ile217ArgfsTer?) c.537_538del (p.Ile180ArgfsTer?) c.414_415del (p.Ile139ArgfsTer?) n.673_674del c.*91_*92del (n.*91_*92del) | COSMIC |
| 3 | g.10149859_10149860insG | CA432423521 | VHL | c.*213_*214insG (n.*213_*214insG) c.672_673insG (n.672_673insG) c.647_648insG (p.Asp216GlufsTer?) c.536_537insG (p.Asp179GlufsTer?) c.413_414insG (p.Asp138GlufsTer?) n.672_673insG c.*90_*91insG (n.*90_*91insG) | |
| 3 | g.10149860C>A | CA351756264 | VHL | c.*214C>A (n.*214C>A) c.673C>A (n.673C>A) c.648C>A (p.Asp216Glu) c.537C>A (p.Asp179Glu) c.414C>A (p.Asp138Glu) n.673C>A c.*91C>A (n.*91C>A) | dbSNP |
| 3 | g.10149860C>G | CA351756267 | VHL | c.*214C>G (n.*214C>G) c.673C>G (n.673C>G) c.648C>G (p.Asp216Glu) c.537C>G (p.Asp179Glu) c.414C>G (p.Asp138Glu) n.673C>G c.*91C>G (n.*91C>G) | dbSNP |
| 3 | g.10149860C>T | CA432423518 | VHL | c.*214C>T (n.*214C>T) c.673C>T (n.673C>T) c.648C>T (p.Asp216=) c.537C>T (p.Asp179=) c.414C>T (p.Asp138=) n.673C>T c.*91C>T (n.*91C>T) | ClinVar dbSNP |
| 3 | g.10149861A= | CA1345062538 | VHL | c.*215A= (n.*215A=) c.674A= (n.674A=) c.649A= (p.Ile217=) c.538A= (p.Ile180=) c.415A= (p.Ile139=) n.674A= c.*92A= (n.*92A=) | |
| 3 | g.10149861A>C | CA351756270 | VHL | c.*215A>C (n.*215A>C) c.674A>C (n.674A>C) c.649A>C (p.Ile217Leu) c.538A>C (p.Ile180Leu) c.415A>C (p.Ile139Leu) n.674A>C c.*92A>C (n.*92A>C) | ClinVar |
| 3 | g.10149861A>G | CA020469 | VHL | c.*215A>G (n.*215A>G) c.674A>G (n.674A>G) c.649A>G (p.Ile217Val) c.538A>G (p.Ile180Val) c.415A>G (p.Ile139Val) n.674A>G c.*92A>G (n.*92A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149861A>T | CA351756275 | VHL | c.*215A>T (n.*215A>T) c.674A>T (n.674A>T) c.649A>T (p.Ile217Phe) c.538A>T (p.Ile180Phe) c.415A>T (p.Ile139Phe) n.674A>T c.*92A>T (n.*92A>T) | dbSNP |
| 3 | g.10149862T>A | CA351756277 | VHL | c.*216T>A (n.*216T>A) c.675T>A (n.675T>A) c.650T>A (p.Ile217Asn) c.539T>A (p.Ile180Asn) c.416T>A (p.Ile139Asn) n.675T>A c.*93T>A (n.*93T>A) | dbSNP COSMIC |
| 3 | g.10149862T>C | CA351756280 | VHL | c.*216T>C (n.*216T>C) c.675T>C (n.675T>C) c.650T>C (p.Ile217Thr) c.539T>C (p.Ile180Thr) c.416T>C (p.Ile139Thr) n.675T>C c.*93T>C (n.*93T>C) | |
| 3 | g.10149862T>G | CA351756282 | VHL | c.*216T>G (n.*216T>G) c.675T>G (n.675T>G) c.650T>G (p.Ile217Ser) c.539T>G (p.Ile180Ser) c.416T>G (p.Ile139Ser) n.675T>G c.*93T>G (n.*93T>G) | ClinVar dbSNP |
| 3 | g.10149862T= | CA1345062543 | VHL | c.*216T= (n.*216T=) c.675T= (n.675T=) c.650T= (p.Ile217=) c.539T= (p.Ile180=) c.416T= (p.Ile139=) n.675T= c.*93T= (n.*93T=) | |
| 3 | g.10149862_10149866delinsTCGTC | CA1345062542 | VHL | c.*216_*220delinsTCGTC (n.*216_*220delinsTCGTC) c.675_679delinsTCGTC (n.675_679delinsTCGTC) c.650_654delinsTCGTC (p.Ile217=) c.539_543delinsTCGTC (p.Ile180=) c.416_420delinsTCGTC (p.Ile139=) n.675_679delinsTCGTC c.*93_*97delinsTCGTC (n.*93_*97delinsTCGTC) | |
| 3 | g.10149862_10149863insG | CA645529531 | VHL | c.*216_*217insG (n.*216_*217insG) c.675_676insG (n.675_676insG) c.650_651insG (p.Ile217MetfsTer?) c.539_540insG (p.Ile180MetfsTer?) c.416_417insG (p.Ile139MetfsTer?) n.675_676insG c.*93_*94insG (n.*93_*94insG) | COSMIC |
| 3 | g.10149863del | CA432423541 | VHL | c.*217del (n.*217del) c.676del (n.676del) c.651del (p.Ile217MetfsTer22) c.540del (p.Ile180MetfsTer22) c.417del (p.Ile139MetfsTer22) n.676del c.*94del (n.*94del) | COSMIC |
| 3 | g.10149863C>A | CA432423535 | VHL | c.*217C>A (n.*217C>A) c.676C>A (n.676C>A) c.651C>A (p.Ile217=) c.540C>A (p.Ile180=) c.417C>A (p.Ile139=) n.676C>A c.*94C>A (n.*94C>A) | |
| 3 | g.10149863C= | CA1345062548 | VHL | c.*217C= (n.*217C=) c.676C= (n.676C=) c.651C= (p.Ile217=) c.540C= (p.Ile180=) c.417C= (p.Ile139=) n.676C= c.*94C= (n.*94C=) | |
| 3 | g.10149863C>G | CA351756286 | VHL | c.*217C>G (n.*217C>G) c.676C>G (n.676C>G) c.651C>G (p.Ile217Met) c.540C>G (p.Ile180Met) c.417C>G (p.Ile139Met) n.676C>G c.*94C>G (n.*94C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149863C>T | CA041478 | VHL | c.*217C>T (n.*217C>T) c.676C>T (n.676C>T) c.651C>T (p.Ile217=) c.540C>T (p.Ile180=) c.417C>T (p.Ile139=) n.676C>T c.*94C>T (n.*94C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10149863_10149866del | CA357022 | VHL | c.*217_*220del (n.*217_*220del) c.676_679del (n.676_679del) c.651_654del (p.Val218GlyfsTer20) c.540_543del (p.Val181GlyfsTer20) c.417_420del (p.Val140GlyfsTer20) n.676_679del c.*94_*97del (n.*94_*97del) | ClinVar dbSNP |
| 3 | g.10149863_10149867delinsT | CA645529530 | VHL | c.*217_*221delinsT (n.*217_*221delinsT) c.676_680delinsT (n.676_680delinsT) c.651_655delinsT (p.Val218GlyfsTer20) c.540_544delinsT (p.Val181GlyfsTer20) c.417_421delinsT (p.Val140GlyfsTer20) n.676_680delinsT c.*94_*98delinsT (n.*94_*98delinsT) | COSMIC |
| 3 | g.10149864del | CA432423544 | VHL | c.*218del (n.*218del) c.677del (n.677del) c.652del (p.Val218SerfsTer21) c.541del (p.Val181SerfsTer21) c.418del (p.Val140SerfsTer21) n.677del c.*95del (n.*95del) | COSMIC |
| 3 | g.10149864G>A | CA10582117 | VHL | c.*218G>A (n.*218G>A) c.677G>A (n.677G>A) c.652G>A (p.Val218Ile) c.541G>A (p.Val181Ile) c.418G>A (p.Val140Ile) n.677G>A c.*95G>A (n.*95G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149864G>C | CA351756295 | VHL | c.*218G>C (n.*218G>C) c.677G>C (n.677G>C) c.652G>C (p.Val218Leu) c.541G>C (p.Val181Leu) c.418G>C (p.Val140Leu) n.677G>C c.*95G>C (n.*95G>C) | ClinVar dbSNP |
| 3 | g.10149864G= | CA1345062570 | VHL | c.*218G= (n.*218G=) c.677G= (n.677G=) c.652G= (p.Val218=) c.541G= (p.Val181=) c.418G= (p.Val140=) n.677G= c.*95G= (n.*95G=) | |
| 3 | g.10149864G>T | CA351756298 | VHL | c.*218G>T (n.*218G>T) c.677G>T (n.677G>T) c.652G>T (p.Val218Phe) c.541G>T (p.Val181Phe) c.418G>T (p.Val140Phe) n.677G>T c.*95G>T (n.*95G>T) | |
| 3 | g.10149864dup | CA432423549 | VHL | c.*218dup (n.*218dup) c.677dup (n.677dup) c.652dup (p.Val218GlyfsTer?) c.541dup (p.Val181GlyfsTer?) c.418dup (p.Val140GlyfsTer?) n.677dup c.*95dup (n.*95dup) | |
| 3 | g.10149865_10149868del | CA645529533 | VHL | c.*219_*222del (n.*219_*222del) c.678_681del (n.678_681del) c.653_656del (p.Val218GlyfsTer20) c.542_545del (p.Val181GlyfsTer20) c.419_422del (p.Val140GlyfsTer20) n.678_681del c.*96_*99del (n.*96_*99del) | COSMIC |
| 3 | g.10149864_10149870del | CA645529532 | VHL | c.*218_*224del (n.*218_*224del) c.677_683del (n.677_683del) c.652_658del (p.Val218ArgfsTer19) c.541_547del (p.Val181ArgfsTer19) c.418_424del (p.Val140ArgfsTer19) n.677_683del c.*95_*101del (n.*95_*101del) | COSMIC |
| 3 | g.10149865T>A | CA351756304 | VHL | c.*219T>A (n.*219T>A) c.678T>A (n.678T>A) c.653T>A (p.Val218Asp) c.542T>A (p.Val181Asp) c.419T>A (p.Val140Asp) n.678T>A c.*96T>A (n.*96T>A) | dbSNP |
| 3 | g.10149865T>C | CA351756307 | VHL | c.*219T>C (n.*219T>C) c.678T>C (n.678T>C) c.653T>C (p.Val218Ala) c.542T>C (p.Val181Ala) c.419T>C (p.Val140Ala) n.678T>C c.*96T>C (n.*96T>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149865T>G | CA351756301 | VHL | c.*219T>G (n.*219T>G) c.678T>G (n.678T>G) c.653T>G (p.Val218Gly) c.542T>G (p.Val181Gly) c.419T>G (p.Val140Gly) n.678T>G c.*96T>G (n.*96T>G) | dbSNP |
| 3 | g.10149865T= | CA1345062574 | VHL | c.*219T= (n.*219T=) c.678T= (n.678T=) c.653T= (p.Val218=) c.542T= (p.Val181=) c.419T= (p.Val140=) n.678T= c.*96T= (n.*96T=) | |
| 3 | g.10149866C>A | CA432423555 | VHL | c.*220C>A (n.*220C>A) c.679C>A (n.679C>A) c.654C>A (p.Val218=) c.543C>A (p.Val181=) c.420C>A (p.Val140=) n.679C>A c.*97C>A (n.*97C>A) | dbSNP |
| 3 | g.10149866C>G | CA432423557 | VHL | c.*220C>G (n.*220C>G) c.679C>G (n.679C>G) c.654C>G (p.Val218=) c.543C>G (p.Val181=) c.420C>G (p.Val140=) n.679C>G c.*97C>G (n.*97C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149866C>T | CA432423559 | VHL | c.*220C>T (n.*220C>T) c.679C>T (n.679C>T) c.654C>T (p.Val218=) c.543C>T (p.Val181=) c.420C>T (p.Val140=) n.679C>T c.*97C>T (n.*97C>T) | dbSNP gnomAD v4 |
| 3 | g.10149866dup | CA645369326 | VHL | c.*220dup (n.*220dup) c.679dup (n.679dup) c.654dup (p.Arg219GlnfsTer?) c.543dup (p.Arg182GlnfsTer?) c.420dup (p.Arg141GlnfsTer?) n.679dup c.*97dup (n.*97dup) | ClinVar dbSNP |
| 3 | g.10149866_10149867insT | CA645529536 | VHL | c.*220_*221insT (n.*220_*221insT) c.679_680insT (n.679_680insT) c.654_655insT (p.Arg219Ter) c.543_544insT (p.Arg182Ter) c.420_421insT (p.Arg141Ter) n.679_680insT c.*97_*98insT (n.*97_*98insT) | COSMIC |
| 3 | g.10149867del | CA645529535 | VHL | c.*221del (n.*221del) c.680del (n.680del) c.655del (p.Arg219GlyfsTer20) c.544del (p.Arg182GlyfsTer20) c.421del (p.Arg141GlyfsTer20) n.680del c.*98del (n.*98del) | COSMIC |
| 3 | g.10149867A= | CA1345062589 | VHL | c.*221A= (n.*221A=) c.680A= (n.680A=) c.655A= (p.Arg219=) c.544A= (p.Arg182=) c.421A= (p.Arg141=) n.680A= c.*98A= (n.*98A=) | |
| 3 | g.10149867A>C | CA432423561 | VHL | c.*221A>C (n.*221A>C) c.680A>C (n.680A>C) c.655A>C (p.Arg219=) c.544A>C (p.Arg182=) c.421A>C (p.Arg141=) n.680A>C c.*98A>C (n.*98A>C) | |
| 3 | g.10149867A>G | CA041490 | VHL | c.*221A>G (n.*221A>G) c.680A>G (n.680A>G) c.655A>G (p.Arg219Gly) c.544A>G (p.Arg182Gly) c.421A>G (p.Arg141Gly) n.680A>G c.*98A>G (n.*98A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149867A>T | CA351756310 | VHL | c.*221A>T (n.*221A>T) c.680A>T (n.680A>T) c.655A>T (p.Arg219Trp) c.544A>T (p.Arg182Trp) c.421A>T (p.Arg141Trp) n.680A>T c.*98A>T (n.*98A>T) | |
| 3 | g.10149867_10149868del | CA645529534 | VHL | c.*221_*222del (n.*221_*222del) c.680_681del (n.680_681del) c.655_656del (p.Arg219ValfsTer?) c.544_545del (p.Arg182ValfsTer?) c.421_422del (p.Arg141ValfsTer?) n.680_681del c.*98_*99del (n.*98_*99del) | COSMIC |
| 3 | g.10149867_10149868delinsAG | CA1345062585 | VHL | c.*221_*222delinsAG (n.*221_*222delinsAG) c.680_681delinsAG (n.680_681delinsAG) c.655_656delinsAG (p.Arg219=) c.544_545delinsAG (p.Arg182=) c.421_422delinsAG (p.Arg141=) n.680_681delinsAG c.*98_*99delinsAG (n.*98_*99delinsAG) | |
| 3 | g.10149867_10149868insT | CA432423576 | VHL | c.*221_*222insT (n.*221_*222insT) c.680_681insT (n.680_681insT) c.655_656insT (p.Arg219MetfsTer?) c.544_545insT (p.Arg182MetfsTer?) c.421_422insT (p.Arg141MetfsTer?) n.680_681insT c.*98_*99insT (n.*98_*99insT) | |
| 3 | g.10149868G>A | CA041507 | VHL | c.*222G>A (n.*222G>A) c.681G>A (n.681G>A) c.656G>A (p.Arg219Lys) c.545G>A (p.Arg182Lys) c.422G>A (p.Arg141Lys) n.681G>A c.*99G>A (n.*99G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10149868G>C | CA351756315 | VHL | c.*222G>C (n.*222G>C) c.681G>C (n.681G>C) c.656G>C (p.Arg219Thr) c.545G>C (p.Arg182Thr) c.422G>C (p.Arg141Thr) n.681G>C c.*99G>C (n.*99G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149868G= | CA1345062597 | VHL | c.*222G= (n.*222G=) c.681G= (n.681G=) c.656G= (p.Arg219=) c.545G= (p.Arg182=) c.422G= (p.Arg141=) n.681G= c.*99G= (n.*99G=) | |
| 3 | g.10149868G>T | CA351756317 | VHL | c.*222G>T (n.*222G>T) c.681G>T (n.681G>T) c.656G>T (p.Arg219Met) c.545G>T (p.Arg182Met) c.422G>T (p.Arg141Met) n.681G>T c.*99G>T (n.*99G>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149869del | CA357093 | VHL | c.*223del (n.*223del) c.682del (n.682del) c.657del (p.Arg219SerfsTer20) c.546del (p.Arg182SerfsTer20) c.423del (p.Arg141SerfsTer20) n.682del c.*100del (n.*100del) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10149869G>A | CA432423578 | VHL | c.*223G>A (n.*223G>A) c.682G>A (n.682G>A) c.657G>A (p.Arg219=) c.546G>A (p.Arg182=) c.423G>A (p.Arg141=) n.682G>A c.*100G>A (n.*100G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10149869G>C | CA351756323 | VHL | c.*223G>C (n.*223G>C) c.682G>C (n.682G>C) c.657G>C (p.Arg219Ser) c.546G>C (p.Arg182Ser) c.423G>C (p.Arg141Ser) n.682G>C c.*100G>C (n.*100G>C) | dbSNP |
| 3 | g.10149869G= | CA1345062600 | VHL | c.*223G= (n.*223G=) c.682G= (n.682G=) c.657G= (p.Arg219=) c.546G= (p.Arg182=) c.423G= (p.Arg141=) n.682G= c.*100G= (n.*100G=) | |
| 3 | g.10149869G>T | CA351756325 | VHL | c.*223G>T (n.*223G>T) c.682G>T (n.682G>T) c.657G>T (p.Arg219Ser) c.546G>T (p.Arg182Ser) c.423G>T (p.Arg141Ser) n.682G>T c.*100G>T (n.*100G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10149869_10149870delinsGT | CA1345062602 | VHL | c.*223_*224delinsGT (n.*223_*224delinsGT) c.682_683delinsGT (n.682_683delinsGT) c.657_658delinsGT (p.Arg219=) c.546_547delinsGT (p.Arg182=) c.423_424delinsGT (p.Arg141=) n.682_683delinsGT c.*100_*101delinsGT (n.*100_*101delinsGT) | |
| 3 | g.10149870del | CA432423593 | VHL | c.*224del (n.*224del) c.683del (n.683del) c.658del (p.Ser220ArgfsTer19) c.547del (p.Ser183ArgfsTer19) c.424del (p.Ser142ArgfsTer19) n.683del c.*101del (n.*101del) | ClinVar dbSNP COSMIC |
| 3 | g.10149870T>A | CA351756328 | VHL | c.*224T>A (n.*224T>A) c.683T>A (n.683T>A) c.658T>A (p.Ser220Thr) c.547T>A (p.Ser183Thr) c.424T>A (p.Ser142Thr) n.683T>A c.*101T>A (n.*101T>A) | dbSNP |
| 3 | g.10149870T>C | CA351756330 | VHL | c.*224T>C (n.*224T>C) c.683T>C (n.683T>C) c.658T>C (p.Ser220Pro) c.547T>C (p.Ser183Pro) c.424T>C (p.Ser142Pro) n.683T>C c.*101T>C (n.*101T>C) | dbSNP |
| 3 | g.10149870T>G | CA351756332 | VHL | c.*224T>G (n.*224T>G) c.683T>G (n.683T>G) c.658T>G (p.Ser220Ala) c.547T>G (p.Ser183Ala) c.424T>G (p.Ser142Ala) n.683T>G c.*101T>G (n.*101T>G) | dbSNP |
| 3 | g.10149870dup | CA432423590 | VHL | c.*224dup (n.*224dup) c.683dup (n.683dup) c.658dup (p.Ser220PhefsTer?) c.547dup (p.Ser183PhefsTer?) c.424dup (p.Ser142PhefsTer?) n.683dup c.*101dup (n.*101dup) | COSMIC |
| 3 | g.10149871del | CA658795184 | VHL | c.*225del (n.*225del) c.684del (n.684del) c.659del (p.Ser220CysfsTer19) c.548del (p.Ser183CysfsTer19) c.425del (p.Ser142CysfsTer19) n.684del c.*102del (n.*102del) | |
| 3 | g.10149871C>A | CA020473 | VHL | c.*225C>A (n.*225C>A) c.684C>A (n.684C>A) c.659C>A (p.Ser220Ter) c.548C>A (p.Ser183Ter) c.425C>A (p.Ser142Ter) n.684C>A c.*102C>A (n.*102C>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149871C= | CA1345062607 | VHL | c.*225C= (n.*225C=) c.684C= (n.684C=) c.659C= (p.Ser220=) c.548C= (p.Ser183=) c.425C= (p.Ser142=) n.684C= c.*102C= (n.*102C=) | |
| 3 | g.10149871C>G | CA277912 | VHL | c.*225C>G (n.*225C>G) c.684C>G (n.684C>G) c.659C>G (p.Ser220Trp) c.548C>G (p.Ser183Trp) c.425C>G (p.Ser142Trp) n.684C>G c.*102C>G (n.*102C>G) | ClinVar dbSNP |
| 3 | g.10149871C>T | CA041537 | VHL | c.*225C>T (n.*225C>T) c.684C>T (n.684C>T) c.659C>T (p.Ser220Leu) c.548C>T (p.Ser183Leu) c.425C>T (p.Ser142Leu) n.684C>T c.*102C>T (n.*102C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149871_10149878del | CA645529538 | VHL | c.*225_*232del (n.*225_*232del) c.684_691del (n.684_691del) c.659_666del (p.Ser220Ter) c.548_555del (p.Ser183Ter) c.425_432del (p.Ser142Ter) n.684_691del c.*102_*109del (n.*102_*109del) | COSMIC |
| 3 | g.10149873_10149879del | CA645529537 | VHL | c.*227_*233del (n.*227_*233del) c.686_692del (n.686_692del) c.661_667del (p.Leu221LysfsTer16) c.550_556del (p.Leu184LysfsTer16) c.427_433del (p.Leu143LysfsTer16) n.686_692del c.*104_*110del (n.*104_*110del) | COSMIC |
| 3 | g.10149872G>A | CA020477 | VHL | c.*226G>A (n.*226G>A) c.685G>A (n.685G>A) c.660G>A (p.Ser220=) c.549G>A (p.Ser183=) c.426G>A (p.Ser142=) n.685G>A c.*103G>A (n.*103G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10149872G>C | CA432423601 | VHL | c.*226G>C (n.*226G>C) c.685G>C (n.685G>C) c.660G>C (p.Ser220=) c.549G>C (p.Ser183=) c.426G>C (p.Ser142=) n.685G>C c.*103G>C (n.*103G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149872G= | CA1345062615 | VHL | c.*226G= (n.*226G=) c.685G= (n.685G=) c.660G= (p.Ser220=) c.549G= (p.Ser183=) c.426G= (p.Ser142=) n.685G= c.*103G= (n.*103G=) | |
| 3 | g.10149872G>T | CA348201 | VHL | c.*226G>T (n.*226G>T) c.685G>T (n.685G>T) c.660G>T (p.Ser220=) c.549G>T (p.Ser183=) c.426G>T (p.Ser142=) n.685G>T c.*103G>T (n.*103G>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149873_10149882del | CA645529539 | VHL | c.*227_*236del (n.*227_*236del) c.686_695del (n.686_695del) c.661_670del (p.Leu221IlefsTer15) c.550_559del (p.Leu184IlefsTer15) c.427_436del (p.Leu143IlefsTer15) n.686_695del c.*104_*113del (n.*104_*113del) | COSMIC |
| 3 | g.10149873C>A | CA351756344 | VHL | c.*227C>A (n.*227C>A) c.686C>A (n.686C>A) c.661C>A (p.Leu221Ile) c.550C>A (p.Leu184Ile) c.427C>A (p.Leu143Ile) n.686C>A c.*104C>A (n.*104C>A) | dbSNP |
| 3 | g.10149873C= | CA1345062618 | VHL | c.*227C= (n.*227C=) c.686C= (n.686C=) c.661C= (p.Leu221=) c.550C= (p.Leu184=) c.427C= (p.Leu143=) n.686C= c.*104C= (n.*104C=) | |
| 3 | g.10149873C>G | CA351756347 | VHL | c.*227C>G (n.*227C>G) c.686C>G (n.686C>G) c.661C>G (p.Leu221Val) c.550C>G (p.Leu184Val) c.427C>G (p.Leu143Val) n.686C>G c.*104C>G (n.*104C>G) | ClinVar dbSNP |
| 3 | g.10149873C>T | CA351756349 | VHL | c.*227C>T (n.*227C>T) c.686C>T (n.686C>T) c.661C>T (p.Leu221Phe) c.550C>T (p.Leu184Phe) c.427C>T (p.Leu143Phe) n.686C>T c.*104C>T (n.*104C>T) | |
| 3 | g.10149875_10149876del | CA645529540 | VHL | c.*229_*230del (n.*229_*230del) c.688_689del (n.688_689del) c.663_664del (p.Tyr222ArgfsTer?) c.552_553del (p.Tyr185ArgfsTer?) c.429_430del (p.Tyr144ArgfsTer?) n.688_689del c.*106_*107del (n.*106_*107del) | COSMIC |
| 3 | g.10149874T>A | CA351756352 | VHL | c.*228T>A (n.*228T>A) c.687T>A (n.687T>A) c.662T>A (p.Leu221His) c.551T>A (p.Leu184His) c.428T>A (p.Leu143His) n.687T>A c.*105T>A (n.*105T>A) | dbSNP COSMIC |
| 3 | g.10149874T>C | CA16617792 | VHL | c.*228T>C (n.*228T>C) c.687T>C (n.687T>C) c.662T>C (p.Leu221Pro) c.551T>C (p.Leu184Pro) c.428T>C (p.Leu143Pro) n.687T>C c.*105T>C (n.*105T>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149874T>G | CA351756355 | VHL | c.*228T>G (n.*228T>G) c.687T>G (n.687T>G) c.662T>G (p.Leu221Arg) c.551T>G (p.Leu184Arg) c.428T>G (p.Leu143Arg) n.687T>G c.*105T>G (n.*105T>G) | dbSNP COSMIC |
| 3 | g.10149874T= | CA1345062620 | VHL | c.*228T= (n.*228T=) c.687T= (n.687T=) c.662T= (p.Leu221=) c.551T= (p.Leu184=) c.428T= (p.Leu143=) n.687T= c.*105T= (n.*105T=) | |
| 3 | g.10149877_10149886del | CA645529541 | VHL | c.*231_*240del (n.*231_*240del) c.690_699del (n.690_699del) c.665_674del (p.Tyr222TrpfsTer14) c.554_563del (p.Tyr185TrpfsTer14) c.431_440del (p.Tyr144TrpfsTer14) n.690_699del c.*108_*117del (n.*108_*117del) | COSMIC |
| 3 | g.10149875C>A | CA432423612 | VHL | c.*229C>A (n.*229C>A) c.688C>A (n.688C>A) c.663C>A (p.Leu221=) c.552C>A (p.Leu184=) c.429C>A (p.Leu143=) n.688C>A c.*106C>A (n.*106C>A) | dbSNP |
| 3 | g.10149875C= | CA1345062625 | VHL | c.*229C= (n.*229C=) c.688C= (n.688C=) c.663C= (p.Leu221=) c.552C= (p.Leu184=) c.429C= (p.Leu143=) n.688C= c.*106C= (n.*106C=) | |
| 3 | g.10149875C>G | CA70052427 | VHL | c.*229C>G (n.*229C>G) c.688C>G (n.688C>G) c.663C>G (p.Leu221=) c.552C>G (p.Leu184=) c.429C>G (p.Leu143=) n.688C>G c.*106C>G (n.*106C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149875C>T | CA041571 | VHL | c.*229C>T (n.*229C>T) c.688C>T (n.688C>T) c.663C>T (p.Leu221=) c.552C>T (p.Leu184=) c.429C>T (p.Leu143=) n.688C>T c.*106C>T (n.*106C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149876del | CA432423620 | VHL | c.*230del (n.*230del) c.689del (n.689del) c.664del (p.Tyr222ThrfsTer17) c.553del (p.Tyr185ThrfsTer17) c.430del (p.Tyr144ThrfsTer17) n.689del c.*107del (n.*107del) | COSMIC |
| 3 | g.10149876T>A | CA041587 | VHL | c.*230T>A (n.*230T>A) c.689T>A (n.689T>A) c.664T>A (p.Tyr222Asn) c.553T>A (p.Tyr185Asn) c.430T>A (p.Tyr144Asn) n.689T>A c.*107T>A (n.*107T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149876T>C | CA351756363 | VHL | c.*230T>C (n.*230T>C) c.689T>C (n.689T>C) c.664T>C (p.Tyr222His) c.553T>C (p.Tyr185His) c.430T>C (p.Tyr144His) n.689T>C c.*107T>C (n.*107T>C) | ClinVar dbSNP |
| 3 | g.10149876T>G | CA351756365 | VHL | c.*230T>G (n.*230T>G) c.689T>G (n.689T>G) c.664T>G (p.Tyr222Asp) c.553T>G (p.Tyr185Asp) c.430T>G (p.Tyr144Asp) n.689T>G c.*107T>G (n.*107T>G) | |
| 3 | g.10149876T= | CA1345062628 | VHL | c.*230T= (n.*230T=) c.689T= (n.689T=) c.664T= (p.Tyr222=) c.553T= (p.Tyr185=) c.430T= (p.Tyr144=) n.689T= c.*107T= (n.*107T=) | |
| 3 | g.10149876_10149877insG | CA645529543 | VHL | c.*230_*231insG (n.*230_*231insG) c.689_690insG (n.689_690insG) c.664_665insG (p.Tyr222Ter) c.553_554insG (p.Tyr185Ter) c.430_431insG (p.Tyr144Ter) n.689_690insG c.*107_*108insG (n.*107_*108insG) | COSMIC |
| 3 | g.10149877del | CA432423624 | VHL | c.*231del (n.*231del) c.690del (n.690del) c.665del (p.Tyr222SerfsTer17) c.554del (p.Tyr185SerfsTer17) c.431del (p.Tyr144SerfsTer17) n.690del c.*108del (n.*108del) | COSMIC |
| 3 | g.10149877A= | CA1345062634 | VHL | c.*231A= (n.*231A=) c.690A= (n.690A=) c.665A= (p.Tyr222=) c.554A= (p.Tyr185=) c.431A= (p.Tyr144=) n.690A= c.*108A= (n.*108A=) | |
| 3 | g.10149877A>C | CA351756368 | VHL | c.*231A>C (n.*231A>C) c.690A>C (n.690A>C) c.665A>C (p.Tyr222Ser) c.554A>C (p.Tyr185Ser) c.431A>C (p.Tyr144Ser) n.690A>C c.*108A>C (n.*108A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149877A>G | CA041601 | VHL | c.*231A>G (n.*231A>G) c.690A>G (n.690A>G) c.665A>G (p.Tyr222Cys) c.554A>G (p.Tyr185Cys) c.431A>G (p.Tyr144Cys) n.690A>G c.*108A>G (n.*108A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149877A>T | CA351756373 | VHL | c.*231A>T (n.*231A>T) c.690A>T (n.690A>T) c.665A>T (p.Tyr222Phe) c.554A>T (p.Tyr185Phe) c.431A>T (p.Tyr144Phe) n.690A>T c.*108A>T (n.*108A>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149878_10149880del | CA2695197743 | VHL | c.*232_*234del (n.*232_*234del) c.691_693del (n.691_693del) c.666_668del (p.Tyr222Ter) c.555_557del (p.Tyr185Ter) c.432_434del (p.Tyr144Ter) n.691_693del c.*109_*111del (n.*109_*111del) | ClinVar |
| 3 | g.10149877_10149895del | CA645529542 | VHL | c.*231_*249del (n.*231_*249del) c.690_708del (n.690_708del) c.665_683del (p.Tyr222SerfsTer11) c.554_572del (p.Tyr185SerfsTer11) c.431_449del (p.Tyr144SerfsTer11) n.690_708del c.*108_*126del (n.*108_*126del) | COSMIC |
| 3 | g.10149877_10149878insG | CA432423630 | VHL | c.*231_*232insG (n.*231_*232insG) c.690_691insG (n.690_691insG) c.665_666insG (p.Tyr222Ter) c.554_555insG (p.Tyr185Ter) c.431_432insG (p.Tyr144Ter) n.690_691insG c.*108_*109insG (n.*108_*109insG) | |
| 3 | g.10149878del | CA432423635 | VHL | c.*232del (n.*232del) c.691del (n.691del) c.666del (p.Tyr222Ter) c.555del (p.Tyr185Ter) c.432del (p.Tyr144Ter) n.691del c.*109del (n.*109del) | COSMIC |
| 3 | g.10149878C>A | CA351756378 | VHL | c.*232C>A (n.*232C>A) c.691C>A (n.691C>A) c.666C>A (p.Tyr222Ter) c.555C>A (p.Tyr185Ter) c.432C>A (p.Tyr144Ter) n.691C>A c.*109C>A (n.*109C>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149878C= | CA1345062642 | VHL | c.*232C= (n.*232C=) c.691C= (n.691C=) c.666C= (p.Tyr222=) c.555C= (p.Tyr185=) c.432C= (p.Tyr144=) n.691C= c.*109C= (n.*109C=) | |
| 3 | g.10149878C>G | CA357075 | VHL | c.*232C>G (n.*232C>G) c.691C>G (n.691C>G) c.666C>G (p.Tyr222Ter) c.555C>G (p.Tyr185Ter) c.432C>G (p.Tyr144Ter) n.691C>G c.*109C>G (n.*109C>G) | ClinVar dbSNP COSMIC |
| 3 | g.10149878C>T | CA349343 | VHL | c.*232C>T (n.*232C>T) c.691C>T (n.691C>T) c.666C>T (p.Tyr222=) c.555C>T (p.Tyr185=) c.432C>T (p.Tyr144=) n.691C>T c.*109C>T (n.*109C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10149878_10149881delinsCGAA | CA1345062645 | VHL | c.*232_*235delinsCGAA (n.*232_*235delinsCGAA) c.691_694delinsCGAA (n.691_694delinsCGAA) c.666_669delinsCGAA (p.Tyr222=) c.555_558delinsCGAA (p.Tyr185=) c.432_435delinsCGAA (p.Tyr144=) n.691_694delinsCGAA c.*109_*112delinsCGAA (n.*109_*112delinsCGAA) | |
| 3 | g.10149878_10149882delinsAT | CA645529544 | VHL | c.*232_*236delinsAT (n.*232_*236delinsAT) c.691_695delinsAT (n.691_695delinsAT) c.666_670delinsAT (p.Tyr222Ter) c.555_559delinsAT (p.Tyr185Ter) c.432_436delinsAT (p.Tyr144Ter) n.691_695delinsAT c.*109_*113delinsAT (n.*109_*113delinsAT) | COSMIC |
| 3 | g.10149879_10149885del | CA645529545 | VHL | c.*233_*239del (n.*233_*239del) c.692_698del (n.692_698del) c.667_673del (p.Glu223TrpfsTer14) c.556_562del (p.Glu186TrpfsTer14) c.433_439del (p.Glu145TrpfsTer14) n.692_698del c.*110_*116del (n.*110_*116del) | COSMIC |
| 3 | g.10149879G>A | CA020480 | VHL | c.*233G>A (n.*233G>A) c.692G>A (n.692G>A) c.667G>A (p.Glu223Lys) c.556G>A (p.Glu186Lys) c.433G>A (p.Glu145Lys) n.692G>A c.*110G>A (n.*110G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149879G>C | CA351756383 | VHL | c.*233G>C (n.*233G>C) c.692G>C (n.692G>C) c.667G>C (p.Glu223Gln) c.556G>C (p.Glu186Gln) c.433G>C (p.Glu145Gln) n.692G>C c.*110G>C (n.*110G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149879G= | CA1345062653 | VHL | c.*233G= (n.*233G=) c.692G= (n.692G=) c.667G= (p.Glu223=) c.556G= (p.Glu186=) c.433G= (p.Glu145=) n.692G= c.*110G= (n.*110G=) | |
| 3 | g.10149879G>T | CA16604432 | VHL | c.*233G>T (n.*233G>T) c.692G>T (n.692G>T) c.667G>T (p.Glu223Ter) c.556G>T (p.Glu186Ter) c.433G>T (p.Glu145Ter) n.692G>T c.*110G>T (n.*110G>T) | ClinVar dbSNP COSMIC |
| 3 | g.10149881_10149883del | CA658795181 | VHL | c.*235_*237del (n.*235_*237del) c.694_696del (n.694_696del) c.669_671del (p.Glu223del) c.558_560del (p.Glu186del) c.435_437del (p.Glu145del) n.694_696del c.*112_*114del (n.*112_*114del) | ClinVar dbSNP |
| 3 | g.10149884_10149892del | CA645529546 | VHL | c.*238_*246del (n.*238_*246del) c.697_705del (n.697_705del) c.672_680del (p.Leu225_Asp227del) c.561_569del (p.Leu188_Asp190del) c.438_446del (p.Leu147_Asp149del) n.697_705del c.*115_*123del (n.*115_*123del) | COSMIC |
| 3 | g.10149880A>C | CA351756385 | VHL | c.*234A>C (n.*234A>C) c.693A>C (n.693A>C) c.668A>C (p.Glu223Ala) c.557A>C (p.Glu186Ala) c.434A>C (p.Glu145Ala) n.693A>C c.*111A>C (n.*111A>C) | |
| 3 | g.10149880A>G | CA351756386 | VHL | c.*234A>G (n.*234A>G) c.693A>G (n.693A>G) c.668A>G (p.Glu223Gly) c.557A>G (p.Glu186Gly) c.434A>G (p.Glu145Gly) n.693A>G c.*111A>G (n.*111A>G) | |
| 3 | g.10149880A>T | CA351756387 | VHL | c.*234A>T (n.*234A>T) c.693A>T (n.693A>T) c.668A>T (p.Glu223Val) c.557A>T (p.Glu186Val) c.434A>T (p.Glu145Val) n.693A>T c.*111A>T (n.*111A>T) | |
| 3 | g.10149881del | CA432423646 | VHL | c.*235del (n.*235del) c.694del (n.694del) c.669del (p.Asp224IlefsTer15) c.558del (p.Asp187IlefsTer15) c.435del (p.Asp146IlefsTer15) n.694del c.*112del (n.*112del) | COSMIC |
| 3 | g.10149880_10149884del | CA645529547 | VHL | c.*234_*238del (n.*234_*238del) c.693_697del (n.693_697del) c.668_672del (p.Glu223AlafsTer?) c.557_561del (p.Glu186AlafsTer?) c.434_438del (p.Glu145AlafsTer?) n.693_697del c.*111_*115del (n.*111_*115del) | COSMIC |
| 3 | g.10149881A= | CA1345062660 | VHL | c.*235A= (n.*235A=) c.694A= (n.694A=) c.669A= (p.Glu223=) c.558A= (p.Glu186=) c.435A= (p.Glu145=) n.694A= c.*112A= (n.*112A=) | |
| 3 | g.10149881A>C | CA020484 | VHL | c.*235A>C (n.*235A>C) c.694A>C (n.694A>C) c.669A>C (p.Glu223Asp) c.558A>C (p.Glu186Asp) c.435A>C (p.Glu145Asp) n.694A>C c.*112A>C (n.*112A>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149881A>G | CA432423649 | VHL | c.*235A>G (n.*235A>G) c.694A>G (n.694A>G) c.669A>G (p.Glu223=) c.558A>G (p.Glu186=) c.435A>G (p.Glu145=) n.694A>G c.*112A>G (n.*112A>G) | |
| 3 | g.10149881A>T | CA351756388 | VHL | c.*235A>T (n.*235A>T) c.694A>T (n.694A>T) c.669A>T (p.Glu223Asp) c.558A>T (p.Glu186Asp) c.435A>T (p.Glu145Asp) n.694A>T c.*112A>T (n.*112A>T) | dbSNP |
| 3 | g.10149882_10149883del | CA645529548 | VHL | c.*236_*237del (n.*236_*237del) c.695_696del (n.695_696del) c.670_671del (p.Asp224SerfsTer?) c.559_560del (p.Asp187SerfsTer?) c.436_437del (p.Asp146SerfsTer?) n.695_696del c.*113_*114del (n.*113_*114del) | COSMIC |
| 3 | g.10149881_10149882insC | CA645529550 | VHL | c.*235_*236insC (n.*235_*236insC) c.694_695insC (n.694_695insC) c.669_670insC (p.Asp224ArgfsTer?) c.558_559insC (p.Asp187ArgfsTer?) c.435_436insC (p.Asp146ArgfsTer?) n.694_695insC c.*112_*113insC (n.*112_*113insC) | COSMIC |
| 3 | g.10149882del | CA432423654 | VHL | c.*236del (n.*236del) c.695del (n.695del) c.670del (p.Asp224IlefsTer15) c.559del (p.Asp187IlefsTer15) c.436del (p.Asp146IlefsTer15) n.695del c.*113del (n.*113del) | COSMIC |
| 3 | g.10149882G>A | CA351756389 | VHL | c.*236G>A (n.*236G>A) c.695G>A (n.695G>A) c.670G>A (p.Asp224Asn) c.559G>A (p.Asp187Asn) c.436G>A (p.Asp146Asn) n.695G>A c.*113G>A (n.*113G>A) | dbSNP COSMIC |
| 3 | g.10149882G>C | CA351756390 | VHL | c.*236G>C (n.*236G>C) c.695G>C (n.695G>C) c.670G>C (p.Asp224His) c.559G>C (p.Asp187His) c.436G>C (p.Asp146His) n.695G>C c.*113G>C (n.*113G>C) | dbSNP |
| 3 | g.10149882G>T | CA351756391 | VHL | c.*236G>T (n.*236G>T) c.695G>T (n.695G>T) c.670G>T (p.Asp224Tyr) c.559G>T (p.Asp187Tyr) c.436G>T (p.Asp146Tyr) n.695G>T c.*113G>T (n.*113G>T) | |
| 3 | g.10149883_10149903del | CA645529549 | VHL | c.*237_*257del (n.*237_*257del) c.696_716del (n.696_716del) c.671_691del (p.Asp224_Asn230del) c.560_580del (p.Asp187_Asn193del) c.437_457del (p.Asp146_Asn152del) n.696_716del c.*114_*134del (n.*114_*134del) | COSMIC |
| 3 | g.10149882_10149883insC | CA432423656 | VHL | c.*236_*237insC (n.*236_*237insC) c.695_696insC (n.695_696insC) c.670_671insC (p.Asp224AlafsTer?) c.559_560insC (p.Asp187AlafsTer?) c.436_437insC (p.Asp146AlafsTer?) n.695_696insC c.*113_*114insC (n.*113_*114insC) | |
| 3 | g.10149883del | CA645529551 | VHL | c.*237del (n.*237del) c.696del (n.696del) c.671del (p.Asp224ValfsTer15) c.560del (p.Asp187ValfsTer15) c.437del (p.Asp146ValfsTer15) n.696del c.*114del (n.*114del) | COSMIC |
| 3 | g.10149883A>C | CA351756392 | VHL | c.*237A>C (n.*237A>C) c.696A>C (n.696A>C) c.671A>C (p.Asp224Ala) c.560A>C (p.Asp187Ala) c.437A>C (p.Asp146Ala) n.696A>C c.*114A>C (n.*114A>C) | |
| 3 | g.10149883A>G | CA351756393 | VHL | c.*237A>G (n.*237A>G) c.696A>G (n.696A>G) c.671A>G (p.Asp224Gly) c.560A>G (p.Asp187Gly) c.437A>G (p.Asp146Gly) n.696A>G c.*114A>G (n.*114A>G) | |
| 3 | g.10149883A>T | CA351756394 | VHL | c.*237A>T (n.*237A>T) c.696A>T (n.696A>T) c.671A>T (p.Asp224Val) c.560A>T (p.Asp187Val) c.437A>T (p.Asp146Val) n.696A>T c.*114A>T (n.*114A>T) | dbSNP COSMIC |
| 3 | g.10149884del | CA432423666 | VHL | c.*238del (n.*238del) c.697del (n.697del) c.672del (p.Leu225TrpfsTer14) c.561del (p.Leu188TrpfsTer14) c.438del (p.Leu147TrpfsTer14) n.697del c.*115del (n.*115del) | COSMIC |
| 3 | g.10149884T>A | CA351756395 | VHL | c.*238T>A (n.*238T>A) c.697T>A (n.697T>A) c.672T>A (p.Asp224Glu) c.561T>A (p.Asp187Glu) c.438T>A (p.Asp146Glu) n.697T>A c.*115T>A (n.*115T>A) | dbSNP |
| 3 | g.10149884T>C | CA041631 | VHL | c.*238T>C (n.*238T>C) c.697T>C (n.697T>C) c.672T>C (p.Asp224=) c.561T>C (p.Asp187=) c.438T>C (p.Asp146=) n.697T>C c.*115T>C (n.*115T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149884T>G | CA351756396 | VHL | c.*238T>G (n.*238T>G) c.697T>G (n.697T>G) c.672T>G (p.Asp224Glu) c.561T>G (p.Asp187Glu) c.438T>G (p.Asp146Glu) n.697T>G c.*115T>G (n.*115T>G) | dbSNP |
| 3 | g.10149884T= | CA1345062669 | VHL | c.*238T= (n.*238T=) c.697T= (n.697T=) c.672T= (p.Asp224=) c.561T= (p.Asp187=) c.438T= (p.Asp146=) n.697T= c.*115T= (n.*115T=) | |
| 3 | g.10149884_10149886del | CA645529554 | VHL | c.*238_*240del (n.*238_*240del) c.697_699del (n.697_699del) c.672_674del (p.Asp224_Leu225delinsGlu) c.561_563del (p.Asp187_Leu188delinsGlu) c.438_440del (p.Asp146_Leu147delinsGlu) n.697_699del c.*115_*117del (n.*115_*117del) | COSMIC |
| 3 | g.10149885_10149886del | CA645529553 | VHL | c.*239_*240del (n.*239_*240del) c.698_699del (n.698_699del) c.673_674del (p.Leu225GlyfsTer?) c.562_563del (p.Leu188GlyfsTer?) c.439_440del (p.Leu147GlyfsTer?) n.698_699del c.*116_*117del (n.*116_*117del) | COSMIC |
| 3 | g.10149884_10149887del | CA645529552 | VHL | c.*238_*241del (n.*238_*241del) c.697_700del (n.697_700del) c.672_675del (p.Asp224GlufsTer14) c.561_564del (p.Asp187GlufsTer14) c.438_441del (p.Asp146GlufsTer14) n.697_700del c.*115_*118del (n.*115_*118del) | COSMIC |
| 3 | g.10149884_10149890delinsG | CA645529555 | VHL | c.*238_*244delinsG (n.*238_*244delinsG) c.697_703delinsG (n.697_703delinsG) c.672_678delinsG (p.Asp224_Leu225del) c.561_567delinsG (p.Asp187_Leu188del) c.438_444delinsG (p.Asp146_Leu147del) n.697_703delinsG c.*115_*121delinsG (n.*115_*121delinsG) | COSMIC |
| 3 | g.10149885del | CA432423671 | VHL | c.*239del (n.*239del) c.698del (n.698del) c.673del (p.Leu225TrpfsTer14) c.562del (p.Leu188TrpfsTer14) c.439del (p.Leu147TrpfsTer14) n.698del c.*116del (n.*116del) | COSMIC |
| 3 | g.10149885C>A | CA351756397 | VHL | c.*239C>A (n.*239C>A) c.698C>A (n.698C>A) c.673C>A (p.Leu225Met) c.562C>A (p.Leu188Met) c.439C>A (p.Leu147Met) n.698C>A c.*116C>A (n.*116C>A) | dbSNP gnomAD v4 |
| 3 | g.10149885C= | CA1345062676 | VHL | c.*239C= (n.*239C=) c.698C= (n.698C=) c.673C= (p.Leu225=) c.562C= (p.Leu188=) c.439C= (p.Leu147=) n.698C= c.*116C= (n.*116C=) | |
| 3 | g.10149885C>G | CA020488 | VHL | c.*239C>G (n.*239C>G) c.698C>G (n.698C>G) c.673C>G (p.Leu225Val) c.562C>G (p.Leu188Val) c.439C>G (p.Leu147Val) n.698C>G c.*116C>G (n.*116C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10149885C>T | CA432423668 | VHL | c.*239C>T (n.*239C>T) c.698C>T (n.698C>T) c.673C>T (p.Leu225=) c.562C>T (p.Leu188=) c.439C>T (p.Leu147=) n.698C>T c.*116C>T (n.*116C>T) | ClinVar dbSNP |
| 3 | g.10149885_10149887del | CA2573320489 | VHL | c.*239_*241del (n.*239_*241del) c.698_700del (n.698_700del) c.673_675del (p.Leu225del) c.562_564del (p.Leu188del) c.439_441del (p.Leu147del) n.698_700del c.*116_*118del (n.*116_*118del) |