UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10135142_10142466del | CA2499216338 | ClinVar | ||
| 3 | g.10135142_10143568del | CA2499216339 | ClinVar | ||
| 3 | g.10137026_10145481del | CA2499216340 | ClinVar | ||
| 3 | g.10137102_10143357del | CA2499216341 | ClinVar | ||
| 3 | g.10139220_10148953del | CA2499216342 | ClinVar | ||
| 3 | g.10139708_10142406del | CA2499216343 | ClinVar | ||
| 3 | g.10139761_10142459del | CA2499216344 | ClinVar | ||
| 3 | g.10140648_10148414del | CA2499216345 | ClinVar | ||
| 3 | g.10140738_10142535del | CA2499216346 | ClinVar | ||
| 3 | g.10141523_10142610del | CA2499216347 | VHL | c.-325_340+423del | ClinVar |
| 3 | g.10141635_10149787del | CA2581463472 | VHL | c.-213_464del c.-213_341del c.-213_*18del | |
| 3 | g.10141847_10149786del | CA1139532106 | VHL | c.-1_*141-1del c.-1_575-1del c.-1_464-1del c.-1_341-1del c.-1_*18-1del | |
| 3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
| 3 | g.10141848_10142187del | CA2581463474 | VHL | c.1_340del (p.Met1SerfsTer3) c.1_340del (p.Met1ValfsTer?) c.1_340del (p.Met1CysfsTer4) | |
| 3 | g.10141848_10146636del | CA2581463475 | VHL | c.1_*140del c.1_600-3151del c.1_463del c.1_341-3151del c.1_*18-3151del | |
| 3 | g.10141936_10142144del | CA2573050894 | VHL | c.89_297del (p.Gly30AspfsTer?) | |
| 3 | g.10142002_10142043del | CA645524632 | VHL | c.155_196del (p.Glu52_Ser65del) | COSMIC |
| 3 | g.10142010_10142039del | CA645524640 | VHL | c.163_192del (p.Glu55_Arg64del) | COSMIC |
| 3 | g.10142014_10142052del | CA645524649 | VHL | c.167_205del (p.Ala56_Arg69delinsGly) | COSMIC |
| 3 | g.10142016_10142034del | CA645524651 | VHL | c.169_187del (p.Gly57CysfsTer4) | COSMIC |
| 3 | g.10142021_10142038del | CA2573320481 | VHL | c.174_191del (p.Pro59_Arg64del) | |
| 3 | g.10142022_10142036delinsCCGCGGCCCGTGCTG | CA1345065505 | VHL | c.175_189delinsCCGCGGCCCGTGCTG (p.Pro59=) | |
| 3 | g.10142026_10142039del | CA16617784 | VHL | c.179_192del (p.Arg60LeufsTer?) | ClinVar dbSNP |
| 3 | g.10142027_10142055del | CA645524664 | VHL | c.180_208del (p.Pro61AlafsTer?) | COSMIC |
| 3 | g.10142025_10142134del | CA645524667 | VHL | c.178_287del (p.Arg60AlafsTer?) | COSMIC |
| 3 | g.10142027_10142040del | CA2580068390 | VHL | c.180_193del (p.Pro61GlyfsTer?) | ClinVar |
| 3 | g.10142028_10142078del | CA2573130331 | VHL | c.181_231del (p.Pro61_Cys77del) | |
| 3 | g.10142029_10142034delinsTTTT | CA645524668 | VHL | c.182_187delinsTTTT (p.Pro61LeufsTer?) | COSMIC |
| 3 | g.10142030_10142034del | CA645524669 | VHL | c.183_187del (p.Val62AlafsTer?) | COSMIC |
| 3 | g.10142031_10142034del | CA645524671 | VHL | c.184_187del (p.Val62CysfsTer4) | COSMIC |
| 3 | g.10142030_10142042del | CA645524670 | VHL | c.183_195del (p.Val62Ter) | COSMIC |
| 3 | g.10142032_10142042del | CA2496441928 | VHL | c.185_195del (p.Val62GlyfsTer?) | |
| 3 | g.10142032_10142033del | CA645524673 | VHL | c.185_186del (p.Val62AlafsTer?) | COSMIC |
| 3 | g.10142032_10142040delinsGC | CA645524674 | VHL | c.185_193delinsGC (p.Val62GlyfsTer3) | COSMIC |
| 3 | g.10142032_10142040delinsAGCA | CA2499306941 | VHL | c.185_193delinsAGCA (p.Val62GlufsTer?) | |
| 3 | g.10142033G>A | CA432536386 | VHL | c.186G>A (p.Val62=) | |
| 3 | g.10142033G>C | CA432536385 | VHL | c.186G>C (p.Val62=) | gnomAD v4 |
| 3 | g.10142033G>T | CA432536384 | VHL | c.186G>T (p.Val62=) | gnomAD v4 |
| 3 | g.10142033_10142034delinsTT | CA2499216349 | VHL | c.186_187delinsTT (p.Val62=) | ClinVar dbSNP |
| 3 | g.10142036_10142040dup | CA2580068393 | VHL | c.189_193dup (p.Ser65CysfsTer4) | ClinVar |
| 3 | g.10142033_10142046del | CA645524675 | VHL | c.186_199del (p.Arg64AlafsTer?) | COSMIC |
| 3 | g.10142034del | CA432536388 | VHL | c.187del (p.Leu63CysfsTer4) | COSMIC |
| 3 | g.10142034C>A | CA351748745 | VHL | c.187C>A (p.Leu63Met) | gnomAD v4 |
| 3 | g.10142034C>G | CA351748746 | VHL | c.187C>G (p.Leu63Val) | gnomAD v4 |
| 3 | g.10142034C>T | CA432536387 | VHL | c.187C>T (p.Leu63=) | ClinVar gnomAD v4 |
| 3 | g.10142034dup | CA645524677 | VHL | c.187dup (p.Leu63ProfsTer?) | COSMIC |
| 3 | g.10142034_10142035delinsTA | CA645524676 | VHL | c.187_188delinsTA (p.Leu63Ter) | COSMIC |
| 3 | g.10142036_10142049del | CA645524678 | VHL | c.189_202del (p.Arg64AlafsTer?) | COSMIC |
| 3 | g.10142035T>A | CA351748753 | VHL | c.188T>A (p.Leu63Gln) | ClinVar dbSNP |
| 3 | g.10142035T>C | CA020079 | VHL | c.188T>C (p.Leu63Pro) | ClinVar dbSNP |
| 3 | g.10142035T>G | CA351748749 | VHL | c.188T>G (p.Leu63Arg) | ClinVar dbSNP |
| 3 | g.10142035T= | CA1345065584 | VHL | c.188T= (p.Leu63=) | |
| 3 | g.10142035_10142039delinsTGCGC | CA1345065585 | VHL | c.188_192delinsTGCGC (p.Leu63=) | |
| 3 | g.10142035_10142042del | CA891841802 | VHL | c.188_195del (p.Leu63ArgfsTer?) | |
| 3 | g.10142036G>A | CA432536389 | VHL | c.189G>A (p.Leu63=) | ClinVar dbSNP |
| 3 | g.10142036G>C | CA432536390 | VHL | c.189G>C (p.Leu63=) | |
| 3 | g.10142036G= | CA1345065592 | VHL | c.189G= (p.Leu63=) | |
| 3 | g.10142036G>T | CA432536391 | VHL | c.189G>T (p.Leu63=) | gnomAD v4 |
| 3 | g.10142036dup | CA658683297 | VHL | c.189dup (p.Arg64AlafsTer?) | ClinVar dbSNP |
| 3 | g.10142036_10142039del | CA357090 | VHL | c.189_192del (p.Ser65Ter) | ClinVar dbSNP |
| 3 | g.10142037C>A | CA351748769 | VHL | c.190C>A (p.Arg64Ser) | ClinVar dbSNP |
| 3 | g.10142037C= | CA1345065596 | VHL | c.190C= (p.Arg64=) | |
| 3 | g.10142037C>G | CA351748773 | VHL | c.190C>G (p.Arg64Gly) | |
| 3 | g.10142037C>T | CA351748776 | VHL | c.190C>T (p.Arg64Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142038G>A | CA020083 | VHL | c.191G>A (p.Arg64His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142038G>C | CA020089 | VHL | c.191G>C (p.Arg64Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142038G= | CA1345065602 | VHL | c.191G= (p.Arg64=) | |
| 3 | g.10142038G>T | CA351748781 | VHL | c.191G>T (p.Arg64Leu) | gnomAD v4 |
| 3 | g.10142038dup | CA2580068395 | VHL | c.191dup (p.Ser65LeufsTer?) | ClinVar |
| 3 | g.10142038_10142039delinsGC | CA1345065605 | VHL | c.191_192delinsGC (p.Arg64=) | |
| 3 | g.10142039_10142045del | CA645524679 | VHL | c.192_198del (p.Ser65ThrfsTer?) | COSMIC |
| 3 | g.10142039del | CA020094 | VHL | c.192del (p.Ser65ArgfsTer2) | ClinVar dbSNP COSMIC |
| 3 | g.10142039C>A | CA432536392 | VHL | c.192C>A (p.Arg64=) | gnomAD v4 |
| 3 | g.10142039C= | CA1345065611 | VHL | c.192C= (p.Arg64=) | |
| 3 | g.10142039C>G | CA432536393 | VHL | c.192C>G (p.Arg64=) | dbSNP |
| 3 | g.10142039C>T | CA16604426 | VHL | c.192C>T (p.Arg64=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142043_10142051del | CA645524680 | VHL | c.196_204del (p.Val66_Ser68del) | COSMIC |
| 3 | g.10142040del | CA432536394 | VHL | c.193del (p.Ser65ArgfsTer2) | COSMIC |
| 3 | g.10142040T>A | CA351748794 | VHL | c.193T>A (p.Ser65Thr) | ClinVar dbSNP COSMIC |
| 3 | g.10142040T>C | CA351748798 | VHL | c.193T>C (p.Ser65Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142040T>G | CA357048 | VHL | c.193T>G (p.Ser65Ala) | ClinVar dbSNP COSMIC |
| 3 | g.10142040T= | CA1345065618 | VHL | c.193T= (p.Ser65=) | |
| 3 | g.10142040_10142041delinsCA | CA645524681 | VHL | c.193_194delinsCA (p.Ser65Gln) | COSMIC |
| 3 | g.10142041del | CA432536395 | VHL | c.194del (p.Ser65TrpfsTer2) | COSMIC |
| 3 | g.10142041C>A | CA357085 | VHL | c.194C>A (p.Ser65Ter) | ClinVar dbSNP COSMIC |
| 3 | g.10142041C= | CA1345065628 | VHL | c.194C= (p.Ser65=) | |
| 3 | g.10142041C>G | CA020099 | VHL | c.194C>G (p.Ser65Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142041C>T | CA020104 | VHL | c.194C>T (p.Ser65Leu) | ClinVar dbSNP gnomAD v2 COSMIC |
| 3 | g.10142041_10142042delinsAA | CA645524682 | VHL | c.194_195delinsAA (p.Ser65Ter) | COSMIC |
| 3 | g.10142042G>A | CA432536399 | VHL | c.195G>A (p.Ser65=) | dbSNP gnomAD v4 COSMIC |
| 3 | g.10142042G>C | CA432536398 | VHL | c.195G>C (p.Ser65=) | ClinVar dbSNP COSMIC |
| 3 | g.10142042G= | CA1345065635 | VHL | c.195G= (p.Ser65=) | |
| 3 | g.10142042G>T | CA432536397 | VHL | c.195G>T (p.Ser65=) | dbSNP gnomAD v4 |
| 3 | g.10142043dup | CA645524684 | VHL | c.196dup (p.Val66GlyfsTer?) | COSMIC |
| 3 | g.10142043del | CA432536396 | VHL | c.196del (p.Val66Ter) | COSMIC COSMIC |
| 3 | g.10142043_10142045del | CA645524683 | VHL | c.196_198del (p.Val66del) | COSMIC |
| 3 | g.10142045_10142068del | CA645524685 | VHL | c.198_221del (p.Asn67_Val74del) | COSMIC |
| 3 | g.10142043G>A | CA351748808 | VHL | c.196G>A (p.Val66Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142043G>C | CA351748814 | VHL | c.196G>C (p.Val66Leu) | dbSNP |
| 3 | g.10142043G= | CA1345065639 | VHL | c.196G= (p.Val66=) | |
| 3 | g.10142043G>T | CA351748813 | VHL | c.196G>T (p.Val66Leu) | gnomAD v4 |
| 3 | g.10142044del | CA432536400 | VHL | c.197del (p.Val66GlyfsTer?) | COSMIC |
| 3 | g.10142044T>A | CA351748815 | VHL | c.197T>A (p.Val66Glu) | |
| 3 | g.10142044T>C | CA351748818 | VHL | c.197T>C (p.Val66Ala) | dbSNP |
| 3 | g.10142044T>G | CA16621911 | VHL | c.197T>G (p.Val66Gly) | dbSNP gnomAD v4 |
| 3 | g.10142044_10142046del | CA645524687 | VHL | c.197_199del (p.Val66_Asn67delinsAsp) | COSMIC |
| 3 | g.10142044_10142056del | CA2497028944 | VHL | c.197_209del (p.Val66GlyfsTer?) | |
| 3 | g.10142044_10142058delinsCTCGTG | CA645524686 | VHL | c.197_211delinsCTCGTG (p.Val66_Pro71delinsAlaArgAla) | COSMIC |
| 3 | g.10142045_10142061del | CA645524688 | VHL | c.198_214del (p.Asn67ProfsTer?) | COSMIC |
| 3 | g.10142044_10142068del | CA2573130203 | VHL | c.197_221del (p.Val66AlafsTer?) | |
| 3 | g.10142045G>A | CA432536402 | VHL | c.198G>A (p.Val66=) | ClinVar dbSNP |
| 3 | g.10142045G>C | CA432536403 | VHL | c.198G>C (p.Val66=) | |
| 3 | g.10142045G>T | CA432536404 | VHL | c.198G>T (p.Val66=) | |
| 3 | g.10142045dup | CA432536401 | VHL | c.198dup (p.Asn67GlufsTer?) | COSMIC |
| 3 | g.10142045_10142046insT | CA432536406 | VHL | c.198_199insT (p.Asn67Ter) | |
| 3 | g.10142046A= | CA1345065645 | VHL | c.199A= (p.Asn67=) | |
| 3 | g.10142046A>C | CA16617785 | VHL | c.199A>C (p.Asn67His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142046A>G | CA351748828 | VHL | c.199A>G (p.Asn67Asp) | dbSNP |
| 3 | g.10142046A>T | CA351748830 | VHL | c.199A>T (p.Asn67Tyr) | |
| 3 | g.10142047del | CA432536405 | VHL | c.200del (p.Asn67ThrfsTer?) | COSMIC COSMIC |
| 3 | g.10142046_10142058del | CA645524689 | VHL | c.199_211del (p.Asn67ProfsTer?) | COSMIC |
| 3 | g.10142047A>C | CA351748831 | VHL | c.200A>C (p.Asn67Thr) | ClinVar dbSNP |
| 3 | g.10142047A>G | CA351748835 | VHL | c.200A>G (p.Asn67Ser) | ClinVar COSMIC |
| 3 | g.10142047A>T | CA351748837 | VHL | c.200A>T (p.Asn67Ile) | dbSNP |
| 3 | g.10142048del | CA432536407 | VHL | c.201del (p.Ser68ArgfsTer?) | COSMIC |
| 3 | g.10142048C>A | CA351748855 | VHL | c.201C>A (p.Asn67Lys) | ClinVar dbSNP |
| 3 | g.10142048C= | CA1345065649 | VHL | c.201C= (p.Asn67=) | |
| 3 | g.10142048C>G | CA039757 | VHL | c.201C>G (p.Asn67Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142048C>T | CA70042498 | VHL | c.201C>T (p.Asn67=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142048_10142050delinsG | CA645524691 | VHL | c.201_203delinsG (p.Asn67LysfsTer?) | COSMIC |
| 3 | g.10142048_10142053delinsA | CA645524690 | VHL | c.201_206delinsA (p.Asn67LysfsTer?) | COSMIC |
| 3 | g.10142049T>A | CA351748880 | VHL | c.202T>A (p.Ser68Thr) | COSMIC |
| 3 | g.10142049T>C | CA16621912 | VHL | c.202T>C (p.Ser68Pro) | ClinVar COSMIC |
| 3 | g.10142049T>G | CA351748869 | VHL | c.202T>G (p.Ser68Ala) | |
| 3 | g.10142050C>A | CA357051 | VHL | c.203C>A (p.Ser68Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142050C= | CA1345065661 | VHL | c.203C= (p.Ser68=) | |
| 3 | g.10142050C>G | CA351748895 | VHL | c.203C>G (p.Ser68Trp) | dbSNP |
| 3 | g.10142050C>T | CA351748894 | VHL | c.203C>T (p.Ser68Leu) | ClinVar dbSNP COSMIC |
| 3 | g.10142050dup | CA645524695 | VHL | c.203dup (p.Arg69AlafsTer?) | COSMIC |
| 3 | g.10142050_10142051delinsAA | CA645524696 | VHL | c.203_204delinsAA (p.Ser68Ter) | COSMIC |
| 3 | g.10142054_10142055dup | CA645524692 | VHL | c.207_208dup (p.Glu70AlafsTer?) | ClinVar COSMIC |
| 3 | g.10142054_10142055del | CA645524693 | VHL | c.207_208del (p.Glu70AlafsTer?) | COSMIC COSMIC |
| 3 | g.10142052_10142055del | CA645524694 | VHL | c.205_208del (p.Arg69SerfsTer?) | COSMIC |
| 3 | g.10142051del | CA432536408 | VHL | c.204del (p.Arg69AlafsTer?) | COSMIC |
| 3 | g.10142051G>A | CA432536410 | VHL | c.204G>A (p.Ser68=) | ClinVar dbSNP COSMIC |
| 3 | g.10142051G>C | CA039785 | VHL | c.204G>C (p.Ser68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142051G= | CA1345065669 | VHL | c.204G= (p.Ser68=) | |
| 3 | g.10142051G>T | CA432536409 | VHL | c.204G>T (p.Ser68=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142051dup | CA913189244 | VHL | c.204dup (p.Arg69AlafsTer?) | ClinVar |
| 3 | g.10142052del | CA432536412 | VHL | c.205del (p.Arg69AlafsTer?) | COSMIC |
| 3 | g.10142052C>A | CA351748921 | VHL | c.205C>A (p.Arg69Ser) | gnomAD v4 |
| 3 | g.10142052C= | CA1345065673 | VHL | c.205C= (p.Arg69=) | |
| 3 | g.10142052C>G | CA351748904 | VHL | c.205C>G (p.Arg69Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142052C>T | CA351748924 | VHL | c.205C>T (p.Arg69Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142052dup | CA432536411 | VHL | c.205dup (p.Arg69ProfsTer?) | |
| 3 | g.10142052_10142054del | CA645524697 | VHL | c.205_207del (p.Arg69del) | COSMIC |
| 3 | g.10142053G>A | CA351748928 | VHL | c.206G>A (p.Arg69His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142053G>C | CA351748937 | VHL | c.206G>C (p.Arg69Pro) | dbSNP |
| 3 | g.10142053G= | CA1345065683 | VHL | c.206G= (p.Arg69=) | |
| 3 | g.10142053G>T | CA351748931 | VHL | c.206G>T (p.Arg69Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142053dup | CA658655754 | VHL | c.206dup (p.Glu70ArgfsTer?) | ClinVar dbSNP |
| 3 | g.10142053_10142055del | CA645524698 | VHL | c.206_208del (p.Arg69_Glu70delinsGln) | COSMIC |
| 3 | g.10142054del | CA432536415 | VHL | c.207del (p.Glu70SerfsTer?) | COSMIC |
| 3 | g.10142054C>A | CA432536413 | VHL | c.207C>A (p.Arg69=) | gnomAD v4 |
| 3 | g.10142054C= | CA1345065686 | VHL | c.207C= (p.Arg69=) | |
| 3 | g.10142054C>G | CA432536414 | VHL | c.207C>G (p.Arg69=) | ClinVar dbSNP |
| 3 | g.10142054C>T | CA16611062 | VHL | c.207C>T (p.Arg69=) | ClinVar dbSNP |
| 3 | g.10142056_10142090del | CA645524699 | VHL | c.209_243del (p.Glu70AlafsTer?) | COSMIC |
| 3 | g.10142055del | CA432536416 | VHL | c.208del (p.Glu70SerfsTer?) | COSMIC |
| 3 | g.10142055G>A | CA020108 | VHL | c.208G>A (p.Glu70Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142055G>C | CA351748955 | VHL | c.208G>C (p.Glu70Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142055G= | CA1345065695 | VHL | c.208G= (p.Glu70=) | |
| 3 | g.10142055G>T | CA16602179 | VHL | c.208G>T (p.Glu70Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142056_10142057del | CA645524700 | VHL | c.209_210del (p.Glu70AlafsTer?) | COSMIC |
| 3 | g.10142055_10142067del | CA645524701 | VHL | c.208_220del (p.Glu70SerfsTer?) | COSMIC |
| 3 | g.10142056del | CA432536417 | VHL | c.209del (p.Glu70GlyfsTer?) | COSMIC |
| 3 | g.10142056A= | CA1345065706 | VHL | c.209A= (p.Glu70=) | |
| 3 | g.10142056A>C | CA351748957 | VHL | c.209A>C (p.Glu70Ala) | ClinVar dbSNP |
| 3 | g.10142056A>G | CA020113 | VHL | c.209A>G (p.Glu70Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142056A>T | CA351748982 | VHL | c.209A>T (p.Glu70Val) | dbSNP |
| 3 | g.10142056_10142061del | CA645524702 | VHL | c.209_214del (p.Glu70_Ser72delinsAla) | COSMIC |
| 3 | g.10142057_10142079del | CA2586965637 | VHL | c.210_232del (p.Pro71SerfsTer?) | |
| 3 | g.10142057del | CA2573320434 | VHL | c.210del (p.Glu70AspfsTer?) | |
| 3 | g.10142057G>A | CA432536418 | VHL | c.210G>A (p.Glu70=) | dbSNP |
| 3 | g.10142057G>C | CA351748998 | VHL | c.210G>C (p.Glu70Asp) | ClinVar dbSNP |
| 3 | g.10142057G= | CA1345065709 | VHL | c.210G= (p.Glu70=) | |
| 3 | g.10142057G>T | CA351749002 | VHL | c.210G>T (p.Glu70Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142057_10142060dup | CA2573048346 | VHL | c.210_213dup (p.Ser72AlafsTer?) | |
| 3 | g.10142059_10142084dup | CA645524703 | VHL | c.212_237dup (p.Ser80ProfsTer?) | COSMIC |
| 3 | g.10142057_10142058insT | CA2586965638 | VHL | c.210_211insT (p.Pro71SerfsTer?) | |
| 3 | g.10142058C>A | CA351749006 | VHL | c.211C>A (p.Pro71Thr) | gnomAD v4 |
| 3 | g.10142058C= | CA1345065716 | VHL | c.211C= (p.Pro71=) | |
| 3 | g.10142058C>G | CA351749010 | VHL | c.211C>G (p.Pro71Ala) | |
| 3 | g.10142058C>T | CA351749014 | VHL | c.211C>T (p.Pro71Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142059_10142060dup | CA2580068397 | VHL | c.212_213dup (p.Ser72ProfsTer?) | ClinVar |
| 3 | g.10142060del | CA432536419 | VHL | c.213del (p.Ser72ProfsTer?) | ClinVar COSMIC COSMIC |
| 3 | g.10142058_10142070del | CA645524704 | VHL | c.211_223del (p.Pro71SerfsTer?) | COSMIC |
| 3 | g.10142059_10142072del | CA645524705 | VHL | c.212_225del (p.Pro71LeufsTer?) | COSMIC |
| 3 | g.10142058_10142059insT | CA2501268513 | VHL | c.211_212insT (p.Pro71LeufsTer?) | |
| 3 | g.10142059C>A | CA351749025 | VHL | c.212C>A (p.Pro71His) | |
| 3 | g.10142059C>G | CA351749022 | VHL | c.212C>G (p.Pro71Arg) | gnomAD v4 COSMIC |
| 3 | g.10142059C>T | CA351749021 | VHL | c.212C>T (p.Pro71Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142061_10142063del | CA2580068398 | VHL | c.214_216del (p.Ser72del) | ClinVar |
| 3 | g.10142060C>A | CA432536420 | VHL | c.213C>A (p.Pro71=) | dbSNP |
| 3 | g.10142060C= | CA1345065721 | VHL | c.213C= (p.Pro71=) | |
| 3 | g.10142060C>G | CA432536421 | VHL | c.213C>G (p.Pro71=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142060C>T | CA039814 | VHL | c.213C>T (p.Pro71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142060_10142079del | CA645524706 | VHL | c.213_232del (p.Val74SerfsTer?) | COSMIC |
| 3 | g.10142061del | CA658795180 | VHL | c.214del (p.Ser72ProfsTer?) | |
| 3 | g.10142061T>A | CA351749057 | VHL | c.214T>A (p.Ser72Thr) | |
| 3 | g.10142061T>C | CA357006 | VHL | c.214T>C (p.Ser72Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142061T>G | CA351749070 | VHL | c.214T>G (p.Ser72Ala) | |
| 3 | g.10142061T= | CA1345065726 | VHL | c.214T= (p.Ser72=) | |
| 3 | g.10142061dup | CA645524707 | VHL | c.214dup (p.Ser72PhefsTer?) | COSMIC |
| 3 | g.10142061_10142062insGCCC | CA2499307076 | VHL | c.214_215insGCCC (p.Ser72CysfsTer?) | |
| 3 | g.10142062C>A | CA351749076 | VHL | c.215C>A (p.Ser72Tyr) | gnomAD v4 |
| 3 | g.10142062C= | CA1345065734 | VHL | c.215C= (p.Ser72=) | |
| 3 | g.10142062C>G | CA351749077 | VHL | c.215C>G (p.Ser72Cys) | gnomAD v4 |
| 3 | g.10142062C>T | CA70042512 | VHL | c.215C>T (p.Ser72Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142064dup | CA2497030271 | VHL | c.217dup (p.Gln73ProfsTer?) | |
| 3 | g.10142063_10142064dup | CA645524708 | VHL | c.216_217dup (p.Gln73ProfsTer?) | COSMIC COSMIC |
| 3 | g.10142064del | CA432536422 | VHL | c.217del (p.Gln73ArgfsTer?) | COSMIC COSMIC |
| 3 | g.10142063_10142064del | CA645524710 | VHL | c.216_217del (p.Gln73GlyfsTer?) | COSMIC |
| 3 | g.10142062_10142106del | CA645524709 | VHL | c.215_259del (p.Ser72_Val87delinsLeu) | COSMIC |
| 3 | g.10142062_10142063insT | CA432536425 | VHL | c.215_216insT (p.Gln73ProfsTer?) | |
| 3 | g.10142063C>A | CA432536423 | VHL | c.216C>A (p.Ser72=) | ClinVar dbSNP COSMIC |
| 3 | g.10142063C= | CA1345065740 | VHL | c.216C= (p.Ser72=) | |
| 3 | g.10142063C>G | CA432536424 | VHL | c.216C>G (p.Ser72=) | |
| 3 | g.10142063C>T | CA039823 | VHL | c.216C>T (p.Ser72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142063_10142064delinsAT | CA645524711 | VHL | c.216_217delinsAT (p.Ser73Ter) | COSMIC |
| 3 | g.10142063_10142064delinsTAT | CA2586965639 | VHL | c.216_217delinsTAT (p.Gln73IlefsTer?) | |
| 3 | g.10142064C>A | CA351749082 | VHL | c.217C>A (p.Gln73Lys) | gnomAD v4 COSMIC |
| 3 | g.10142064C= | CA1345065750 | VHL | c.217C= (p.Gln73=) | |
| 3 | g.10142064C>G | CA70042515 | VHL | c.217C>G (p.Gln73Glu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142064C>T | CA357036 | VHL | c.217C>T (p.Gln73Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142066_10142079del | CA2497423672 | VHL | c.219_232del (p.Val74SerfsTer?) | |
| 3 | g.10142067_10142086dup | CA645524712 | VHL | c.220_239dup (p.Ser80ArgfsTer?) | COSMIC |
| 3 | g.10142065del | CA432536427 | VHL | c.218del (p.Gln73ArgfsTer?) | COSMIC |
| 3 | g.10142065A= | CA1345065763 | VHL | c.218A= (p.Gln73=) | |
| 3 | g.10142065A>C | CA351749144 | VHL | c.218A>C (p.Gln73Pro) | |
| 3 | g.10142065A>G | CA351749128 | VHL | c.218A>G (p.Gln73Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142065A>T | CA351749113 | VHL | c.218A>T (p.Gln73Leu) | ClinVar dbSNP |
| 3 | g.10142065dup | CA432536426 | VHL | c.218dup (p.Val74GlyfsTer?) | COSMIC |
| 3 | g.10142065_10142066del | CA645524713 | VHL | c.218_219del (p.Gln73ArgfsTer?) | COSMIC |
| 3 | g.10142065_10142067del | CA645524714 | VHL | c.218_220del (p.Gln73_Val74delinsLeu) | COSMIC |
| 3 | g.10142065_10142067delinsAGG | CA1345065759 | VHL | c.218_220delinsAGG (p.Gln73=) | |
| 3 | g.10142066G>A | CA432536429 | VHL | c.219G>A (p.Gln73=) | COSMIC |
| 3 | g.10142066G>C | CA351749148 | VHL | c.219G>C (p.Gln73His) | ClinVar dbSNP |
| 3 | g.10142066G= | CA1345065769 | VHL | c.219G= (p.Gln73=) | |
| 3 | g.10142066G>T | CA351749151 | VHL | c.219G>T (p.Gln73His) | gnomAD v4 |
| 3 | g.10142066_10142067del | CA020116 | VHL | c.219_220del (p.Gln73HisfsTer?) | ClinVar dbSNP COSMIC |
| 3 | g.10142067del | CA432536428 | VHL | c.220del (p.Val74SerfsTer?) | COSMIC COSMIC |
| 3 | g.10142067G>A | CA351749158 | VHL | c.220G>A (p.Val74Ile) | dbSNP gnomAD v4 |
| 3 | g.10142067G>C | CA351749160 | VHL | c.220G>C (p.Val74Leu) | ClinVar dbSNP |
| 3 | g.10142067G>T | CA351749164 | VHL | c.220G>T (p.Val74Phe) | ClinVar gnomAD v4 |
| 3 | g.10142067_10142068delinsGT | CA1345065773 | VHL | c.220_221delinsGT (p.Val74=) | |
| 3 | g.10142067_10142070delinsGTCA | CA1345065771 | VHL | c.220_223delinsGTCA (p.Val74=) | |
| 3 | g.10142068_10142077del | CA645524715 | VHL | c.221_230del (p.Val74AlafsTer?) | COSMIC |
| 3 | g.10142068_10142092del | CA645524716 | VHL | c.221_245del (p.Val74AlafsTer?) | COSMIC |
| 3 | g.10142068del | CA357108 | VHL | c.221del (p.Val74AlafsTer?) | ClinVar dbSNP COSMIC |
| 3 | g.10142068T>A | CA351749169 | VHL | c.221T>A (p.Val74Asp) | ClinVar dbSNP COSMIC |
| 3 | g.10142068T>C | CA16617786 | VHL | c.221T>C (p.Val74Ala) | ClinVar dbSNP COSMIC |
| 3 | g.10142068T>G | CA70042528 | VHL | c.221T>G (p.Val74Gly) | dbSNP COSMIC |
| 3 | g.10142068T= | CA1345065786 | VHL | c.221T= (p.Val74=) | |
| 3 | g.10142068_10142069delinsAT | CA645524719 | VHL | c.221_222delinsAT (p.Val74Asp) | COSMIC |
| 3 | g.10142070_10142072del | CA020120 | VHL | c.223_225del (p.Ile75del) | ClinVar dbSNP |
| 3 | g.10142068_10142076del | CA645524718 | VHL | c.221_229del (p.Val74_Cys77delinsGly) | COSMIC |
| 3 | g.10142069_10142076del | CA645524717 | VHL | c.222_229del (p.Ile75GlnfsTer?) | COSMIC |
| 3 | g.10142069C>A | CA432536430 | VHL | c.222C>A (p.Val74=) | ClinVar dbSNP |
| 3 | g.10142069C= | CA1345065795 | VHL | c.222C= (p.Val74=) | |
| 3 | g.10142069C>G | CA039854 | VHL | c.222C>G (p.Val74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142069C>T | CA432536431 | VHL | c.222C>T (p.Val74=) | ClinVar dbSNP gnomAD v2 COSMIC |
| 3 | g.10142069_10142072dup | CA1139768927 | VHL | c.222_225dup (p.Phe76HisfsTer?) | ClinVar |
| 3 | g.10142069_10142070insT | CA2499306953 | VHL | c.222_223insT (p.Ile75TyrfsTer?) | |
| 3 | g.10142070del | CA2499306978 | VHL | c.223del (p.Ile75SerfsTer?) | |
| 3 | g.10142070A= | CA1345065802 | VHL | c.223A= (p.Ile75=) | |
| 3 | g.10142070A>C | CA16611074 | VHL | c.223A>C (p.Ile75Leu) | ClinVar dbSNP |
| 3 | g.10142070A>G | CA351749194 | VHL | c.223A>G (p.Ile75Val) | ClinVar dbSNP |
| 3 | g.10142070A>T | CA351749187 | VHL | c.223A>T (p.Ile75Phe) | dbSNP |
| 3 | g.10142070dup | CA645524720 | VHL | c.223dup (p.Ile75AsnfsTer?) | COSMIC |
| 3 | g.10142070_10142073delinsATCT | CA1345065801 | VHL | c.223_226delinsATCT (p.Ile75=) | |
| 3 | g.10142073_10142082del | CA645524721 | VHL | c.226_235del (p.Phe76AlafsTer?) | COSMIC |
| 3 | g.10142071T>A | CA351749200 | VHL | c.224T>A (p.Ile75Asn) | |
| 3 | g.10142071T>C | CA351749204 | VHL | c.224T>C (p.Ile75Thr) | dbSNP gnomAD v4 |
| 3 | g.10142071T>G | CA16617787 | VHL | c.224T>G (p.Ile75Ser) | ClinVar dbSNP |
| 3 | g.10142071T= | CA1345065814 | VHL | c.224T= (p.Ile75=) | |
| 3 | g.10142071dup | CA913189239 | VHL | c.224dup (p.Phe76LeufsTer?) | |
| 3 | g.10142072_10142073del | CA645524722 | VHL | c.225_226del (p.Phe76LeufsTer?) | COSMIC |
| 3 | g.10142074_10142076dup | CA2586965640 | VHL | c.227_229dup (p.Phe76_Cys77insPhe) | |
| 3 | g.10142074_10142076del | CA357012 | VHL | c.227_229del (p.Phe76del) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.10142071_10142078dup | CA645524723 | VHL | c.224_231dup (p.Asn78SerfsTer?) | COSMIC |
| 3 | g.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del | |
| 3 | g.10142071_10142072insA | CA432536432 | VHL | c.224_225insA (p.Phe76LeufsTer?) | |
| 3 | g.10142072C>A | CA432536433 | VHL | c.225C>A (p.Ile75=) | dbSNP |
| 3 | g.10142072C= | CA1345065824 | VHL | c.225C= (p.Ile75=) | |
| 3 | g.10142072C>G | CA351749213 | VHL | c.225C>G (p.Ile75Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142072C>T | CA039864 | VHL | c.225C>T (p.Ile75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142072dup | CA645524726 | VHL | c.225dup (p.Phe76LeufsTer?) | COSMIC |
| 3 | g.10142072_10142074delinsCTT | CA1345065830 | VHL | c.225_227delinsCTT (p.Ile75=) | |
| 3 | g.10142072_10142075del | CA645524725 | VHL | c.225_228del (p.Phe76AlafsTer?) | COSMIC |
| 3 | g.10142073_10142078del | CA2573130179 | VHL | c.226_231del (p.Phe76_Cys77del) | |
| 3 | g.10142072_10142082delinsT | CA645524724 | VHL | c.225_235delinsT (p.Phe76AlafsTer?) | COSMIC |
| 3 | g.10142073T>A | CA351749221 | VHL | c.226T>A (p.Phe76Ile) | ClinVar dbSNP |
| 3 | g.10142073T>C | CA351749223 | VHL | c.226T>C (p.Phe76Leu) | ClinVar |
| 3 | g.10142073T>G | CA351749228 | VHL | c.226T>G (p.Phe76Val) | gnomAD v4 |
| 3 | g.10142073T= | CA1345065836 | VHL | c.226T= (p.Phe76=) | |
| 3 | g.10142073_10142074del | CA16611078 | VHL | c.226_227del (p.Phe76LeufsTer?) | ClinVar dbSNP |
| 3 | g.10142074dup | CA432536434 | VHL | c.227dup (p.Cys77LeufsTer?) | COSMIC |
| 3 | g.10142074del | CA432536435 | VHL | c.227del (p.Phe76SerfsTer?) | COSMIC |
| 3 | g.10142073_10142079del | CA645524727 | VHL | c.226_232del (p.Phe76IlefsTer?) | COSMIC |
| 3 | g.10142074T>A | CA351749231 | VHL | c.227T>A (p.Phe76Tyr) | ClinVar dbSNP COSMIC |
| 3 | g.10142074T>C | CA020125 | VHL | c.227T>C (p.Phe76Ser) | ClinVar dbSNP COSMIC |
| 3 | g.10142074T>G | CA351749240 | VHL | c.227T>G (p.Phe76Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142074T= | CA1345065841 | VHL | c.227T= (p.Phe76=) | |
| 3 | g.10142074_10142075delinsAA | CA2573320343 | VHL | c.227_228delinsAA (p.Phe76Ter) | |
| 3 | g.10142074_10142168del | CA645524728 | VHL | c.227_321del (p.Phe76SerfsTer?) c.227_321del (p.Phe76SerfsTer24) c.227_321del (p.Phe76SerfsTer25) | COSMIC |
| 3 | g.10142074_10142075insAA | CA645524732 | VHL | c.227_228insAA (p.Phe76LeufsTer?) | COSMIC |
| 3 | g.10142075del | CA432536436 | VHL | c.228del (p.Cys77AlafsTer?) | COSMIC |
| 3 | g.10142075C>A | CA351749261 | VHL | c.228C>A (p.Phe76Leu) | COSMIC |
| 3 | g.10142075C= | CA1345065844 | VHL | c.228C= (p.Phe76=) | |
| 3 | g.10142075C>G | CA351749248 | VHL | c.228C>G (p.Phe76Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10142075C>T | CA432536437 | VHL | c.228C>T (p.Phe76=) | ClinVar dbSNP |
| 3 | g.10142075dup | CA658795177 | VHL | c.228dup (p.Cys77LeufsTer?) | |
| 3 | g.10142076_10142078del | CA645524729 | VHL | c.229_231del (p.Cys77del) | COSMIC |
| 3 | g.10142075_10142083delinsGA | CA645524731 | VHL | c.228_236delinsGA (p.Phe76LeufsTer?) | COSMIC |
| 3 | g.10142076_10142084del | CA645524730 | VHL | c.229_237del (p.Cys77_Arg79del) | COSMIC |
| 3 | g.10142075_10142076insA | CA645524733 | VHL | c.228_229insA (p.Cys77MetfsTer?) | COSMIC |
| 3 | g.10142076T>A | CA351749264 | VHL | c.229T>A (p.Cys77Ser) | gnomAD v4 COSMIC |
| 3 | g.10142076T>C | CA351749267 | VHL | c.229T>C (p.Cys77Arg) | ClinVar dbSNP |
| 3 | g.10142076T>G | CA351749266 | VHL | c.229T>G (p.Cys77Gly) | |
| 3 | g.10142076T= | CA1345065852 | VHL | c.229T= (p.Cys77=) | |
| 3 | g.10142077_10142081del | CA645524734 | VHL | c.230_234del (p.Cys77SerfsTer?) | COSMIC |
| 3 | g.10142076_10142077insA | CA432536438 | VHL | c.229_230insA (p.Cys77Ter) | |
| 3 | g.10142077del | CA2573106239 | VHL | c.230del (p.Cys77SerfsTer?) | |
| 3 | g.10142077G>A | CA351749270 | VHL | c.230G>A (p.Cys77Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142077G>C | CA351749273 | VHL | c.230G>C (p.Cys77Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142077G= | CA1345065855 | VHL | c.230G= (p.Cys77=) | |
| 3 | g.10142077G>T | CA351749278 | VHL | c.230G>T (p.Cys77Phe) | ClinVar gnomAD v4 |
| 3 | g.10142077dup | CA645524737 | VHL | c.230dup (p.Cys77TrpfsTer?) | COSMIC |
| 3 | g.10142077_10142078del | CA645524735 | VHL | c.230_231del (p.Cys77Ter) | COSMIC |
| 3 | g.10142077_10142079del | CA645524736 | VHL | c.230_232del (p.Cys77_Asn78delinsTyr) | COSMIC |
| 3 | g.10142077_10142078insTCT | CA2499214029 | VHL | c.230_231insTCT (p.Cys77_Asn78insLeu) | |
| 3 | g.10142078C>A | CA351749279 | VHL | c.231C>A (p.Cys77Ter) | ClinVar dbSNP COSMIC |
| 3 | g.10142078C>G | CA351749280 | VHL | c.231C>G (p.Cys77Trp) | |
| 3 | g.10142078C>T | CA432536439 | VHL | c.231C>T (p.Cys77=) | dbSNP |
| 3 | g.10142078_10142079del | CA645524738 | VHL | c.231_232del (p.Cys77Ter) | COSMIC |
| 3 | g.10142078_10142079delinsCA | CA1345065861 | VHL | c.231_232delinsCA (p.Cys77=) | |
| 3 | g.10142078_10142091del | CA645524739 | VHL | c.231_244del (p.Cys77TrpfsTer?) | COSMIC |
| 3 | g.10142078_10142079insG | CA432536442 | VHL | c.231_232insG (p.Asn78GlufsTer?) | |
| 3 | g.10142078_10142079insTCT | CA2573050816 | VHL | c.231_232insTCT (p.Cys77_Asn78insSer) | |
| 3 | g.10142079A= | CA1345065870 | VHL | c.232A= (p.Asn78=) | |
| 3 | g.10142079A>C | CA351749283 | VHL | c.232A>C (p.Asn78His) | ClinVar dbSNP COSMIC |
| 3 | g.10142079A>G | CA351749284 | VHL | c.232A>G (p.Asn78Asp) | ClinVar dbSNP COSMIC |
| 3 | g.10142079A>T | CA357056 | VHL | c.232A>T (p.Asn78Tyr) | ClinVar dbSNP COSMIC |
| 3 | g.10142079_10142080del | CA645524740 | VHL | c.232_233del (p.Asn78SerfsTer?) | COSMIC |
| 3 | g.10142080dup | CA432536441 | VHL | c.233dup (p.Asn78LysfsTer?) | COSMIC COSMIC |
| 3 | g.10142080del | CA432536440 | VHL | c.233del (p.Asn78IlefsTer?) | ClinVar dbSNP COSMIC |
| 3 | g.10142079_10142081dup | CA645524741 | VHL | c.232_234dup (p.Asn78_Arg79insAsn) | COSMIC |
| 3 | g.10142080A= | CA1345065882 | VHL | c.233A= (p.Asn78=) | |
| 3 | g.10142080A>C | CA357095 | VHL | c.233A>C (p.Asn78Thr) | ClinVar dbSNP COSMIC |
| 3 | g.10142080A>G | CA020131 | VHL | c.233A>G (p.Asn78Ser) | ClinVar dbSNP COSMIC |
| 3 | g.10142080A>T | CA357063 | VHL | c.233A>T (p.Asn78Ile) | ClinVar dbSNP COSMIC |
| 3 | g.10142080_10142081del | CA645524743 | VHL | c.233_234del (p.Asn78ThrfsTer?) | COSMIC |
| 3 | g.10142080_10142090del | CA645524742 | VHL | c.233_243del (p.Asn78ThrfsTer?) | COSMIC |
| 3 | g.10142081del | CA432536445 | VHL | c.234del (p.Arg79AlafsTer?) | COSMIC |
| 3 | g.10142081T>A | CA351749296 | VHL | c.234T>A (p.Asn78Lys) | dbSNP COSMIC |
| 3 | g.10142081T>C | CA432536443 | VHL | c.234T>C (p.Asn78=) | dbSNP |
| 3 | g.10142081T>G | CA351749297 | VHL | c.234T>G (p.Asn78Lys) | dbSNP COSMIC |
| 3 | g.10142081dup | CA432536444 | VHL | c.234dup (p.Arg79SerfsTer?) | COSMIC |
| 3 | g.10142081_10142084del | CA645524745 | VHL | c.234_237del (p.Asn78LysfsTer?) | COSMIC |
| 3 | g.10142083_10142088del | CA645524744 | VHL | c.236_241del (p.Arg79_Ser80del) | COSMIC |
| 3 | g.10142081_10142090delinsTCGCAGTCCG | CA1345065888 | VHL | c.234_243delinsTCGCAGTCCG (p.Asn78=) | |
| 3 | g.10142081_10142082insA | CA432536446 | VHL | c.234_235insA (p.Arg79ThrfsTer?) | COSMIC |
| 3 | g.10142082del | CA432536447 | VHL | c.235del (p.Arg79AlafsTer?) | COSMIC |
| 3 | g.10142082C>A | CA351749302 | VHL | c.235C>A (p.Arg79Ser) | ClinVar dbSNP |
| 3 | g.10142082C= | CA1345065897 | VHL | c.235C= (p.Arg79=) | |
| 3 | g.10142082C>G | CA16611065 | VHL | c.235C>G (p.Arg79Gly) | ClinVar dbSNP COSMIC |
| 3 | g.10142082C>T | CA020136 | VHL | c.235C>T (p.Arg79Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142083_10142084del | CA645524746 | VHL | c.236_237del (p.Arg79GlnfsTer?) | COSMIC |
| 3 | g.10142085_10142093del | CA916081410 | VHL | c.238_246del (p.Ser80_Arg82del) | ClinVar dbSNP |
| 3 | g.10142083del | CA2573320404 | VHL | c.236del (p.Arg79ProfsTer?) | |
| 3 | g.10142083G>A | CA351749309 | VHL | c.236G>A (p.Arg79His) | dbSNP gnomAD v4 COSMIC |
| 3 | g.10142083G>C | CA351749311 | VHL | c.236G>C (p.Arg79Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142083G>T | CA351749314 | VHL | c.236G>T (p.Arg79Leu) | ClinVar |
| 3 | g.10142083_10142084delinsCA | CA645524748 | VHL | c.236_237delinsCA (p.Arg79Pro) | COSMIC |
| 3 | g.10142085_10142103del | CA645524747 | VHL | c.238_256del (p.Ser80ProfsTer?) | COSMIC |
| 3 | g.10142084del | CA645524749 | VHL | c.237del (p.Ser80ValfsTer?) | COSMIC |
| 3 | g.10142084C>A | CA432420443 | VHL | c.237C>A (p.Arg79=) | dbSNP |
| 3 | g.10142084C= | CA1345065903 | VHL | c.237C= (p.Arg79=) | |
| 3 | g.10142084C>G | CA70046079 | VHL | c.237C>G (p.Arg79=) | ClinVar dbSNP COSMIC |
| 3 | g.10142084C>T | CA039906 | VHL | c.237C>T (p.Arg79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142084_10142085del | CA645524750 | VHL | c.237_238del (p.Pro81AlafsTer?) | COSMIC |
| 3 | g.10142084_10142085dup | CA2581463484 | VHL | c.237_238dup (p.Ser80ThrfsTer?) | |
| 3 | g.10142084_10142107delinsCAGTCCGCGCGTCGTGCTGCCCGT | CA1345065904 | VHL | c.237_260delinsCAGTCCGCGCGTCGTGCTGCCCGT (p.Arg79=) | |
| 3 | g.10142085A= | CA1345065910 | VHL | c.238A= (p.Ser80=) | |
| 3 | g.10142085A>C | CA16621913 | VHL | c.238A>C (p.Ser80Arg) | ClinVar dbSNP COSMIC |
| 3 | g.10142085A>G | CA020142 | VHL | c.238A>G (p.Ser80Gly) | ClinVar dbSNP COSMIC |
| 3 | g.10142085A>T | CA351750504 | VHL | c.238A>T (p.Ser80Cys) | dbSNP |
| 3 | g.10142085_10142086del | CA645524752 | VHL | c.238_239del (p.Pro81AlafsTer?) | COSMIC |
| 3 | g.10142085_10142086delinsTT | CA645524751 | VHL | c.238_239delinsTT (p.Ser80Phe) | COSMIC |
| 3 | g.10142086_10142108del | CA913189503 | VHL | c.239_261del (p.Ser80MetfsTer?) | ClinVar dbSNP |
| 3 | g.10142086del | CA913189245 | VHL | c.239del (p.Ser80IlefsTer?) | |
| 3 | g.10142086G>A | CA70046108 | VHL | c.239G>A (p.Ser80Asn) | ClinVar dbSNP COSMIC |
| 3 | g.10142086G>C | CA351750508 | VHL | c.239G>C (p.Ser80Thr) | |
| 3 | g.10142086G= | CA1345065917 | VHL | c.239G= (p.Ser80=) | |
| 3 | g.10142086G>T | CA16621914 | VHL | c.239G>T (p.Ser80Ile) | ClinVar dbSNP COSMIC |
| 3 | g.10142086_10142088del | CA645524753 | VHL | c.239_241del (p.Ser80_Pro81delinsThr) | COSMIC |
| 3 | g.10142086_10142092del | CA913189246 | VHL | c.239_245del (p.Ser80ThrfsTer?) | |
| 3 | g.10142087T>A | CA351750519 | VHL | c.240T>A (p.Ser80Arg) | dbSNP COSMIC |
| 3 | g.10142087T>C | CA432420444 | VHL | c.240T>C (p.Ser80=) | ClinVar dbSNP |
| 3 | g.10142087T>G | CA351750515 | VHL | c.240T>G (p.Ser80Arg) | dbSNP COSMIC |
| 3 | g.10142087T= | CA1345065928 | VHL | c.240T= (p.Ser80=) | |
| 3 | g.10142088C>A | CA351750522 | VHL | c.241C>A (p.Pro81Thr) | gnomAD v4 COSMIC |
| 3 | g.10142088C= | CA1345065933 | VHL | c.241C= (p.Pro81=) | |
| 3 | g.10142088C>G | CA351750524 | VHL | c.241C>G (p.Pro81Ala) | ClinVar dbSNP |
| 3 | g.10142088C>T | CA020148 | VHL | c.241C>T (p.Pro81Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142089del | CA432420447 | VHL | c.242del (p.Pro81ArgfsTer?) | COSMIC |
| 3 | g.10142088_10142091dup | CA2499216350 | VHL | c.241_244dup (p.Arg82ProfsTer?) | ClinVar dbSNP |
| 3 | g.10142089_10142093del | CA645524754 | VHL | c.242_246del (p.Pro81ArgfsTer?) | COSMIC |
| 3 | g.10142091_10142106dup | CA2499216351 | VHL | c.244_259dup (p.Val87AlafsTer?) | ClinVar dbSNP |
| 3 | g.10142089C>A | CA351750529 | VHL | c.242C>A (p.Pro81Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142089C= | CA1345065940 | VHL | c.242C= (p.Pro81=) | |
| 3 | g.10142089C>G | CA351750531 | VHL | c.242C>G (p.Pro81Arg) | |
| 3 | g.10142089C>T | CA020154 | VHL | c.242C>T (p.Pro81Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142093_10142094del | CA645524757 | VHL | c.246_247del (p.Val83ArgfsTer?) | COSMIC |
| 3 | g.10142091_10142094del | CA645524756 | VHL | c.244_247del (p.Arg82SerfsTer?) | COSMIC |
| 3 | g.10142091_10142097del | CA645524755 | VHL | c.244_250del (p.Arg82CysfsTer?) | COSMIC |
| 3 | g.10142090G>A | CA039977 | VHL | c.243G>A (p.Pro81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142090G>C | CA432420449 | VHL | c.243G>C (p.Pro81=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142090G= | CA1345065945 | VHL | c.243G= (p.Pro81=) | |
| 3 | g.10142090G>T | CA432420451 | VHL | c.243G>T (p.Pro81=) | gnomAD v4 |
| 3 | g.10142090dup | CA645524758 | VHL | c.243dup (p.Arg82AlafsTer?) | COSMIC |
| 3 | g.10142090_10142094del | CA645524759 | VHL | c.243_247del (p.Val83AlafsTer?) | COSMIC |
| 3 | g.10142092_10142100del | CA658820713 | VHL | c.245_253del (p.Arg82_Val84del) | |
| 3 | g.10142091del | CA432420453 | VHL | c.244del (p.Arg82AlafsTer?) | COSMIC |
| 3 | g.10142091C>A | CA351750539 | VHL | c.244C>A (p.Arg82Ser) | |
| 3 | g.10142091C= | CA1345065949 | VHL | c.244C= (p.Arg82=) | |
| 3 | g.10142091C>G | CA351750544 | VHL | c.244C>G (p.Arg82Gly) | ClinVar dbSNP COSMIC |
| 3 | g.10142091C>T | CA351750541 | VHL | c.244C>T (p.Arg82Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10142092G>A | CA351750549 | VHL | c.245G>A (p.Arg82His) | ClinVar dbSNP |
| 3 | g.10142092G>C | CA020159 | VHL | c.245G>C (p.Arg82Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142092G= | CA1345065953 | VHL | c.245G= (p.Arg82=) | |
| 3 | g.10142092G>T | CA351750555 | VHL | c.245G>T (p.Arg82Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142093C>A | CA432420458 | VHL | c.246C>A (p.Arg82=) | gnomAD v4 |
| 3 | g.10142093C= | CA1345065955 | VHL | c.246C= (p.Arg82=) | |
| 3 | g.10142093C>G | CA432420459 | VHL | c.246C>G (p.Arg82=) | dbSNP |
| 3 | g.10142093C>T | CA020164 | VHL | c.246C>T (p.Arg82=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142093_10142101del | CA645524760 | VHL | c.246_254del (p.Val83_Leu85del) | COSMIC |
| 3 | g.10142094del | CA432420460 | VHL | c.247del (p.Val83SerfsTer?) | COSMIC |
| 3 | g.10142094G>A | CA351750561 | VHL | c.247G>A (p.Val83Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142094G>C | CA040005 | VHL | c.247G>C (p.Val83Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142094G= | CA1345065961 | VHL | c.247G= (p.Val83=) | |
| 3 | g.10142094G>T | CA351750564 | VHL | c.247G>T (p.Val83Phe) | gnomAD v4 COSMIC |
| 3 | g.10142095_10142102del | CA645524761 | VHL | c.248_255del (p.Val83AlafsTer?) | COSMIC |
| 3 | g.10142095T>A | CA351750571 | VHL | c.248T>A (p.Val83Asp) | |
| 3 | g.10142095T>C | CA040024 | VHL | c.248T>C (p.Val83Ala) | dbSNP ExAC |
| 3 | g.10142095T>G | CA351750576 | VHL | c.248T>G (p.Val83Gly) | dbSNP |
| 3 | g.10142095T= | CA1345065964 | VHL | c.248T= (p.Val83=) | |
| 3 | g.10142095_10142096insAT | CA645524762 | VHL | c.248_249insAT (p.Val84SerfsTer?) | COSMIC |
| 3 | g.10142096C>A | CA432420462 | VHL | c.249C>A (p.Val83=) | |
| 3 | g.10142096C= | CA1345065966 | VHL | c.249C= (p.Val83=) | |
| 3 | g.10142096C>G | CA432420463 | VHL | c.249C>G (p.Val83=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10142096C>T | CA432420464 | VHL | c.249C>T (p.Val83=) | dbSNP gnomAD v4 |
| 3 | g.10142096_10142097del | CA645524766 | VHL | c.249_250del (p.Val84AlafsTer?) | COSMIC |
| 3 | g.10142097_10142100del | CA645524765 | VHL | c.250_253del (p.Val84CysfsTer?) | COSMIC |
| 3 | g.10142097_10142103del | CA645524767 | VHL | c.250_256del (p.Val84ProfsTer?) | COSMIC |
| 3 | g.10142099_10142107del | CA645524763 | VHL | c.252_260del (p.Leu85_Val87del) | COSMIC |
| 3 | g.10142098_10142127del | CA645524764 | VHL | c.251_280del (p.Val84_Gly93del) | COSMIC |
| 3 | g.10142097del | CA2580068400 | VHL | c.250del (p.Val84CysfsTer?) | ClinVar |
| 3 | g.10142097G>A | CA351750580 | VHL | c.250G>A (p.Val84Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10142097G>C | CA10578180 | VHL | c.250G>C (p.Val84Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142097G= | CA1345065972 | VHL | c.250G= (p.Val84=) | |
| 3 | g.10142097G>T | CA020170 | VHL | c.250G>T (p.Val84Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142098T>A | CA351750592 | VHL | c.251T>A (p.Val84Glu) | ClinVar dbSNP |
| 3 | g.10142098T>C | CA351750594 | VHL | c.251T>C (p.Val84Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142098T>G | CA351750597 | VHL | c.251T>G (p.Val84Gly) | dbSNP |
| 3 | g.10142098T= | CA1345065981 | VHL | c.251T= (p.Val84=) | |
| 3 | g.10142098_10142107del | CA645524769 | VHL | c.251_260del (p.Val84AspfsTer30) c.251_260del (p.Val84AspfsTer?) | COSMIC |
| 3 | g.10142098_10142116del | CA645524768 | VHL | c.251_269del (p.Val84AlafsTer27) c.251_269del (p.Val84AlafsTer?) c.251_269del (p.Val84AlafsTer28) | COSMIC |
| 3 | g.10142099del | CA432420467 | VHL | c.252del (p.Leu85CysfsTer?) | COSMIC |
| 3 | g.10142099G>A | CA432420466 | VHL | c.252G>A (p.Val84=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142099G>C | CA432420469 | VHL | c.252G>C (p.Val84=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10142099G= | CA1345065984 | VHL | c.252G= (p.Val84=) | |
| 3 | g.10142099G>T | CA432420470 | VHL | c.252G>T (p.Val84=) | dbSNP gnomAD v4 |
| 3 | g.10142101_10142130del | CA2499306645 | VHL | c.254_283del (p.Leu85_Glu94del) | |
| 3 | g.10142100del | CA432420472 | VHL | c.253del (p.Leu85CysfsTer?) | COSMIC |
| 3 | g.10142100C>A | CA351750602 | VHL | c.253C>A (p.Leu85Met) | dbSNP |
| 3 | g.10142100C= | CA1345065989 | VHL | c.253C= (p.Leu85=) | |
| 3 | g.10142100C>G | CA351750604 | VHL | c.253C>G (p.Leu85Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142100C>T | CA432420471 | VHL | c.253C>T (p.Leu85=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142100_10142102delinsTTT | CA2586965647 | VHL | c.253_255delinsTTT (p.Leu85Phe) | |
| 3 | g.10142100_10142107del | CA645524770 | VHL | c.253_260del (p.Leu85MetfsTer?) | COSMIC |
| 3 | g.10142101T>A | CA351750614 | VHL | c.254T>A (p.Leu85Gln) | dbSNP |
| 3 | g.10142101T>C | CA16602675 | VHL | c.254T>C (p.Leu85Pro) | ClinVar dbSNP COSMIC |
| 3 | g.10142101T>G | CA351750609 | VHL | c.254T>G (p.Leu85Arg) | |
| 3 | g.10142101T= | CA1345065994 | VHL | c.254T= (p.Leu85=) | |
| 3 | g.10142101dup | CA2586965648 | VHL | c.254dup (p.Pro86AlafsTer?) | |
| 3 | g.10142101_10142102insC | CA2497028737 | VHL | c.254_255insC (p.Pro86AlafsTer?) | |
| 3 | g.10142102G>A | CA10578181 | VHL | c.255G>A (p.Leu85=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142102G>C | CA432420476 | VHL | c.255G>C (p.Leu85=) | ClinVar |
| 3 | g.10142102G= | CA1345066002 | VHL | c.255G= (p.Leu85=) | |
| 3 | g.10142102G>T | CA432420475 | VHL | c.255G>T (p.Leu85=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142102_10142103del | CA645524772 | VHL | c.255_256del (p.Pro86ArgfsTer?) | COSMIC |
| 3 | g.10142102_10142103delinsGC | CA1345066000 | VHL | c.255_256delinsGC (p.Leu85=) | |
| 3 | g.10142103_10142106del | CA645524771 | VHL | c.256_259del (p.Pro86TyrfsTer30) c.256_259del (p.Pro86TyrfsTer?) | COSMIC COSMIC |
| 3 | g.10142103C>A | CA351750624 | VHL | c.256C>A (p.Pro86Thr) | COSMIC |
| 3 | g.10142103C= | CA1345066015 | VHL | c.256C= (p.Pro86=) | |
| 3 | g.10142103C>G | CA020174 | VHL | c.256C>G (p.Pro86Ala) | ClinVar dbSNP COSMIC |
| 3 | g.10142103C>T | CA020180 | VHL | c.256C>T (p.Pro86Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142105dup | CA16602181 | VHL | c.258dup (p.Val87ArgfsTer?) | ClinVar dbSNP |
| 3 | g.10142105del | CA348305 | VHL | c.258del (p.Val87TyrfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.10142104_10142114del | CA645524773 | VHL | c.257_267del (p.Pro86GlnfsTer?) | COSMIC |
| 3 | g.10142104C>A | CA351750632 | VHL | c.257C>A (p.Pro86His) | dbSNP COSMIC |
| 3 | g.10142104C= | CA1345066027 | VHL | c.257C= (p.Pro86=) | |
| 3 | g.10142104C>G | CA357142 | VHL | c.257C>G (p.Pro86Arg) | ClinVar dbSNP COSMIC |
| 3 | g.10142104C>T | CA020186 | VHL | c.257C>T (p.Pro86Leu) | ClinVar dbSNP COSMIC |
| 3 | g.10142105C>A | CA432420479 | VHL | c.258C>A (p.Pro86=) | dbSNP |
| 3 | g.10142105C= | CA1345066033 | VHL | c.258C= (p.Pro86=) | |
| 3 | g.10142105C>G | CA040037 | VHL | c.258C>G (p.Pro86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142105C>T | CA040059 | VHL | c.258C>T (p.Pro86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142105_10142106del | CA645524774 | VHL | c.258_259del (p.Val87MetfsTer?) | COSMIC |
| 3 | g.10142105_10142106insT | CA432420480 | VHL | c.258_259insT (p.Val87CysfsTer?) | |
| 3 | g.10142106G>A | CA351750641 | VHL | c.259G>A (p.Val87Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142106G>C | CA351750645 | VHL | c.259G>C (p.Val87Leu) | dbSNP |
| 3 | g.10142106G>T | CA351750649 | VHL | c.259G>T (p.Val87Leu) | dbSNP gnomAD v4 |
| 3 | g.10142106_10142107del | CA2695197690 | VHL | c.259_260del (p.Val87MetfsTer?) | ClinVar |
| 3 | g.10142107_10142110del | CA2573320242 | VHL | c.260_263del (p.Val87GlyfsTer29) c.260_263del (p.Val87GlyfsTer?) c.260_263del (p.Val87GlyfsTer30) | |
| 3 | g.10142106_10142111del | CA645524776 | VHL | c.259_264del (p.Val87_Trp88del) | COSMIC |
| 3 | g.10142106_10142107insA | CA913189242 | VHL | c.259_260insA (p.Val87AspfsTer?) | |
| 3 | g.10142107del | CA432420483 | VHL | c.260del (p.Val87AspfsTer30) c.260del (p.Val87AspfsTer?) | COSMIC |
| 3 | g.10142107T>A | CA351750651 | VHL | c.260T>A (p.Val87Glu) | dbSNP |
| 3 | g.10142107T>C | CA351750654 | VHL | c.260T>C (p.Val87Ala) | dbSNP COSMIC |
| 3 | g.10142107T>G | CA351750660 | VHL | c.260T>G (p.Val87Gly) | dbSNP |
| 3 | g.10142107dup | CA1139770764 | VHL | c.260dup (p.Trp88MetfsTer?) | |
| 3 | g.10142107_10142109del | CA645524777 | VHL | c.260_262del (p.Val87_Trp88delinsGly) | COSMIC |
| 3 | g.10142108_10142109dup | CA2580068401 | VHL | c.261_262dup (p.Trp88TyrfsTer30) c.261_262dup (p.Trp88TyrfsTer?) c.261_262dup (p.Trp88TyrfsTer31) | ClinVar |
| 3 | g.10142108_10142109del | CA645524778 | VHL | c.261_262del (p.Trp88AlafsTer?) | COSMIC |
| 3 | g.10142108A= | CA1345066040 | VHL | c.261A= (p.Val87=) | |
| 3 | g.10142108A>C | CA432420484 | VHL | c.261A>C (p.Val87=) | dbSNP |
| 3 | g.10142108A>G | CA432420486 | VHL | c.261A>G (p.Val87=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142108A>T | CA432420485 | VHL | c.261A>T (p.Val87=) | dbSNP |
| 3 | g.10142108dup | CA2573050932 | VHL | c.261dup (p.Trp88MetfsTer?) | |
| 3 | g.10142108_10142109insGGCTCAAC | CA645524779 | VHL | c.261_262insGGCTCAAC (p.Trp88GlyfsTer32) c.261_262insGGCTCAAC (p.Trp88GlyfsTer?) | COSMIC |
| 3 | g.10142109T>A | CA351750671 | VHL | c.262T>A (p.Trp88Arg) | ClinVar dbSNP COSMIC |
| 3 | g.10142109T>C | CA351750667 | VHL | c.262T>C (p.Trp88Arg) | ClinVar dbSNP COSMIC |
| 3 | g.10142109T>G | CA351750664 | VHL | c.262T>G (p.Trp88Gly) | COSMIC |
| 3 | g.10142109T= | CA1345066045 | VHL | c.262T= (p.Trp88=) | |
| 3 | g.10142109_10142110insCGGCT | CA645524780 | VHL | c.262_263insCGGCT (p.Trp88SerfsTer31) c.262_263insCGGCT (p.Trp88SerfsTer?) c.262_263insCGGCT (p.Trp88SerfsTer32) | COSMIC |
| 3 | g.10142110G>A | CA020197 | VHL | c.263G>A (p.Trp88Ter) | ClinVar dbSNP COSMIC |
| 3 | g.10142110G>C | CA020202 | VHL | c.263G>C (p.Trp88Ser) | ClinVar dbSNP COSMIC |
| 3 | g.10142110G= | CA1345066056 | VHL | c.263G= (p.Trp88=) | |
| 3 | g.10142110G>T | CA351750675 | VHL | c.263G>T (p.Trp88Leu) | dbSNP COSMIC |
| 3 | g.10142111del | CA432420490 | VHL | c.264del (p.Trp88CysfsTer29) c.264del (p.Trp88CysfsTer?) c.264del (p.Trp88CysfsTer30) | COSMIC |
| 3 | g.10142110_10142112delinsTT | CA658683075 | VHL | c.263_265delinsTT (p.Trp88PhefsTer29) c.263_265delinsTT (p.Trp88PhefsTer?) c.263_265delinsTT (p.Trp88PhefsTer30) | |
| 3 | g.10142110_10142112dup | CA645369327 | VHL | c.263_265dup (p.Trp88_Leu89insArg) | ClinVar dbSNP |
| 3 | g.10142110_10142117del | CA645524781 | VHL | c.263_270del (p.Trp88PhefsTer?) | COSMIC |
| 3 | g.10142111G>A | CA351750677 | VHL | c.264G>A (p.Trp88Ter) | ClinVar dbSNP COSMIC |
| 3 | g.10142111G>C | CA351750678 | VHL | c.264G>C (p.Trp88Cys) | ClinVar dbSNP COSMIC |
| 3 | g.10142111G= | CA1345066066 | VHL | c.264G= (p.Trp88=) | |
| 3 | g.10142111G>T | CA357078 | VHL | c.264G>T (p.Trp88Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142111_10142114dup | CA1139655728 | VHL | c.264_267dup (p.Asn90AlafsTer?) | ClinVar dbSNP |
| 3 | g.10142112_10142121del | CA645524782 | VHL | c.265_274del (p.Leu89ThrfsTer25) c.265_274del (p.Leu89ThrfsTer?) c.265_274del (p.Leu89ThrfsTer26) | COSMIC |
| 3 | g.10142112C>A | CA351750679 | VHL | c.265C>A (p.Leu89Ile) | |
| 3 | g.10142112C= | CA1345066073 | VHL | c.265C= (p.Leu89=) | |
| 3 | g.10142112C>G | CA351750680 | VHL | c.265C>G (p.Leu89Val) | |
| 3 | g.10142112C>T | CA351750683 | VHL | c.265C>T (p.Leu89Phe) | ClinVar dbSNP |
| 3 | g.10142113_10142123del | CA1139771712 | VHL | c.266_276del (p.Leu89ArgfsTer?) | |
| 3 | g.10142112_10142113insG | CA432420491 | VHL | c.265_266insG (p.Leu89ArgfsTer?) | |
| 3 | g.10142113T>A | CA16602514 | VHL | c.266T>A (p.Leu89His) | ClinVar dbSNP COSMIC |
| 3 | g.10142113T>C | CA020207 | VHL | c.266T>C (p.Leu89Pro) | ClinVar dbSNP |
| 3 | g.10142113T>G | CA351750693 | VHL | c.266T>G (p.Leu89Arg) | COSMIC |
| 3 | g.10142113T= | CA1345066074 | VHL | c.266T= (p.Leu89=) | |
| 3 | g.10142114C>A | CA040097 | VHL | c.267C>A (p.Leu89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10142114C= | CA1345066077 | VHL | c.267C= (p.Leu89=) | |
| 3 | g.10142114C>G | CA432420492 | VHL | c.267C>G (p.Leu89=) | ClinVar dbSNP |
| 3 | g.10142114C>T | CA432420493 | VHL | c.267C>T (p.Leu89=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142114_10142115delinsCA | CA1345066079 | VHL | c.267_268delinsCA (p.Leu89=) | |
| 3 | g.10142115_10142117del | CA645524783 | VHL | c.268_270del (p.Asn90del) | COSMIC |
| 3 | g.10142115A= | CA1345066087 | VHL | c.268A= (p.Asn90=) | |
| 3 | g.10142115A>C | CA351750708 | VHL | c.268A>C (p.Asn90His) | |
| 3 | g.10142115A>G | CA351750699 | VHL | c.268A>G (p.Asn90Asp) | dbSNP |
| 3 | g.10142115A>T | CA351750702 | VHL | c.268A>T (p.Asn90Tyr) | ClinVar dbSNP COSMIC |
| 3 | g.10142116dup | CA2586965652 | VHL | c.269dup (p.Asn90LysfsTer?) | |
| 3 | g.10142116del | CA357100 | VHL | c.269del (p.Asn90ThrfsTer27) c.269del (p.Asn90ThrfsTer?) c.269del (p.Asn90ThrfsTer28) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10142116_10142122del | CA645524784 | VHL | c.269_275del (p.Asn90ThrfsTer25) c.269_275del (p.Asn90ThrfsTer?) c.269_275del (p.Asn90ThrfsTer26) | COSMIC |
| 3 | g.10142116A= | CA1345066090 | VHL | c.269A= (p.Asn90=) | |
| 3 | g.10142116A>C | CA351750709 | VHL | c.269A>C (p.Asn90Thr) | ClinVar dbSNP |
| 3 | g.10142116A>G | CA020212 | VHL | c.269A>G (p.Asn90Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142116A>T | CA357043 | VHL | c.269A>T (p.Asn90Ile) | ClinVar dbSNP COSMIC |
| 3 | g.10142117del | CA645524787 | VHL | c.270del (p.Phe91SerfsTer26) c.270del (p.Phe91SerfsTer?) c.270del (p.Phe91SerfsTer27) | COSMIC |
| 3 | g.10142117C>A | CA351750714 | VHL | c.270C>A (p.Asn90Lys) | |
| 3 | g.10142117C>G | CA351750717 | VHL | c.270C>G (p.Asn90Lys) | |
| 3 | g.10142117C>T | CA432420494 | VHL | c.270C>T (p.Asn90=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142117_10142118del | CA2695196567 | VHL | c.270_271del (p.Phe91ArgfsTer?) | |
| 3 | g.10142118_10142120del | CA645524785 | VHL | c.271_273del (p.Phe91del) | COSMIC |
| 3 | g.10142117_10142127del | CA645524786 | VHL | c.270_280del (p.Asn90LysfsTer?) | COSMIC |
| 3 | g.10142118T>A | CA351750719 | VHL | c.271T>A (p.Phe91Ile) | |
| 3 | g.10142118T>C | CA351750722 | VHL | c.271T>C (p.Phe91Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142118T>G | CA16020703 | VHL | c.271T>G (p.Phe91Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142118T= | CA1345066093 | VHL | c.271T= (p.Phe91=) | |
| 3 | g.10142119del | CA432420495 | VHL | c.272del (p.Phe91SerfsTer26) c.272del (p.Phe91SerfsTer?) c.272del (p.Phe91SerfsTer27) | COSMIC COSMIC COSMIC |
| 3 | g.10142119T>A | CA351750730 | VHL | c.272T>A (p.Phe91Tyr) | dbSNP |
| 3 | g.10142119T>C | CA351750741 | VHL | c.272T>C (p.Phe91Ser) | dbSNP |
| 3 | g.10142119T>G | CA351750742 | VHL | c.272T>G (p.Phe91Cys) | |
| 3 | g.10142119_10142120delinsAA | CA2499307077 | VHL | c.272_273delinsAA (p.Phe91Ter) | |
| 3 | g.10142119_10142120delinsTC | CA1345066096 | VHL | c.272_273delinsTC (p.Phe91=) | |
| 3 | g.10142119_10142131del | CA645524788 | VHL | c.272_284del (p.Phe91CysfsTer22) c.272_284del (p.Phe91CysfsTer?) c.272_284del (p.Phe91CysfsTer23) | COSMIC |
| 3 | g.10142120del | CA432420496 | VHL | c.273del (p.Phe91LeufsTer26) c.273del (p.Phe91LeufsTer?) c.273del (p.Phe91LeufsTer27) | ClinVar dbSNP COSMIC |
| 3 | g.10142120C>A | CA16611270 | VHL | c.273C>A (p.Phe91Leu) | ClinVar dbSNP |
| 3 | g.10142120C= | CA1345066103 | VHL | c.273C= (p.Phe91=) | |
| 3 | g.10142120C>G | CA351750747 | VHL | c.273C>G (p.Phe91Leu) | dbSNP |
| 3 | g.10142120C>T | CA432420497 | VHL | c.273C>T (p.Phe91=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142120_10142121del | CA645524791 | VHL | c.273_274del (p.Phe91LeufsTer?) | COSMIC |
| 3 | g.10142122_10142124del | CA645524790 | VHL | c.275_277del (p.Asp92del) | COSMIC |
| 3 | g.10142120_10142128del | CA645524792 | VHL | c.273_281del (p.Phe91_Glu94delinsLeu) | COSMIC |
| 3 | g.10142122_10142132del | CA645524789 | VHL | c.275_285del (p.Asp92AlafsTer?) | COSMIC |
| 3 | g.10142121G>A | CA351750750 | VHL | c.274G>A (p.Asp92Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142121G>C | CA351750757 | VHL | c.274G>C (p.Asp92His) | dbSNP gnomAD v4 |
| 3 | g.10142121G= | CA1345066108 | VHL | c.274G= (p.Asp92=) | |
| 3 | g.10142121G>T | CA020217 | VHL | c.274G>T (p.Asp92Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.10142121_10142125del | CA645524793 | VHL | c.274_278del (p.Asp92ArgfsTer?) | COSMIC |
| 3 | g.10142121_10142139delinsGACGGCGAGCCGCAGCCCT | CA1345066109 | VHL | c.274_292delinsGACGGCGAGCCGCAGCCCT (p.Asp92=) | |
| 3 | g.10142122del | CA432420498 | VHL | c.275del (p.Asp92AlafsTer25) c.275del (p.Asp92AlafsTer?) c.275del (p.Asp92AlafsTer26) | COSMIC |
| 3 | g.10142122A= | CA1345066115 | VHL | c.275A= (p.Asp92=) | |
| 3 | g.10142122A>C | CA351750762 | VHL | c.275A>C (p.Asp92Ala) | ClinVar dbSNP |
| 3 | g.10142122A>G | CA351750765 | VHL | c.275A>G (p.Asp92Gly) | dbSNP |
| 3 | g.10142122A>T | CA020224 | VHL | c.275A>T (p.Asp92Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10142122delinsCC | CA1139768933 | VHL | c.275delinsCC (p.Asp92AlafsTer?) | |
| 3 | g.10142122_10142129delinsT | CA645524794 | VHL | c.275_282delinsT (p.Asp92ValfsTer23) c.275_282delinsT (p.Asp92ValfsTer?) c.275_282delinsT (p.Asp92ValfsTer24) | COSMIC |
| 3 | g.10142124_10142141del | CA891843321 | VHL | c.277_294del (p.Gly93_Tyr98del) | ClinVar dbSNP |
| 3 | g.10142122_10142123insGG | CA645524796 | VHL | c.275_276insGG (p.Asp92GlufsTer26) c.275_276insGG (p.Asp92GlufsTer?) c.275_276insGG (p.Asp92GlufsTer27) | COSMIC |
| 3 | g.10142123C>A | CA351750771 | VHL | c.276C>A (p.Asp92Glu) | dbSNP |
| 3 | g.10142123C= | CA1345066121 | VHL | c.276C= (p.Asp92=) | |
| 3 | g.10142123C>G | CA351750775 | VHL | c.276C>G (p.Asp92Glu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142123C>T | CA432420499 | VHL | c.276C>T (p.Asp92=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142123_10142124delinsCG | CA1345066119 | VHL | c.276_277delinsCG (p.Asp92=) | |
| 3 | g.10142125_10142127del | CA645524795 | VHL | c.278_280del (p.Gly93del) | COSMIC |
| 3 | g.10142124G>A | CA020230 | VHL | c.277G>A (p.Gly93Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142124G>C | CA357130 | VHL | c.277G>C (p.Gly93Arg) | ClinVar dbSNP COSMIC |
| 3 | g.10142124G= | CA1345066132 | VHL | c.277G= (p.Gly93=) | |
| 3 | g.10142124G>T | CA357106 | VHL | c.277G>T (p.Gly93Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142125del | CA432420500 | VHL | c.278del (p.Gly93AlafsTer24) c.278del (p.Gly93AlafsTer?) c.278del (p.Gly93AlafsTer25) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10142125G>A | CA351750781 | VHL | c.278G>A (p.Gly93Asp) | ClinVar dbSNP |
| 3 | g.10142125G>C | CA351750780 | VHL | c.278G>C (p.Gly93Ala) | ClinVar dbSNP |
| 3 | g.10142125G= | CA1345066148 | VHL | c.278G= (p.Gly93=) | |
| 3 | g.10142125G>T | CA351750779 | VHL | c.278G>T (p.Gly93Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142125_10142126delinsGC | CA1345066154 | VHL | c.278_279delinsGC (p.Gly93=) | |
| 3 | g.10142125_10142126delinsTT | CA891843322 | VHL | c.278_279delinsTT (p.Gly93Val) | ClinVar dbSNP |
| 3 | g.10142126_10142127dup | CA645524798 | VHL | c.279_280dup (p.Glu94AlafsTer24) c.279_280dup (p.Glu94AlafsTer?) c.279_280dup (p.Glu94AlafsTer25) | COSMIC |
| 3 | g.10142126_10142127del | CA645524797 | VHL | c.279_280del (p.Glu94AlafsTer?) | COSMIC |
| 3 | g.10142126del | CA658820711 | VHL | c.279del (p.Glu94SerfsTer23) c.279del (p.Glu94SerfsTer?) c.279del (p.Glu94SerfsTer24) | |
| 3 | g.10142126C>A | CA432420501 | VHL | c.279C>A (p.Gly93=) | gnomAD v4 |
| 3 | g.10142126C= | CA1345066159 | VHL | c.279C= (p.Gly93=) | |
| 3 | g.10142126C>G | CA432420502 | VHL | c.279C>G (p.Gly93=) | |
| 3 | g.10142126C>T | CA432420503 | VHL | c.279C>T (p.Gly93=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10142127_10142128insGACG | CA645524799 | VHL | c.280_281insGACG (p.Glu94GlyfsTer?) | COSMIC |
| 3 | g.10142127G>A | CA020237 | VHL | c.280G>A (p.Glu94Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142127G>C | CA351750786 | VHL | c.280G>C (p.Glu94Gln) | gnomAD v4 |
| 3 | g.10142127G= | CA1345066162 | VHL | c.280G= (p.Glu94=) | |
| 3 | g.10142127G>T | CA70046202 | VHL | c.280G>T (p.Glu94Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142128del | CA645524803 | VHL | c.281del (p.Glu94GlyfsTer23) c.281del (p.Glu94GlyfsTer?) c.281del (p.Glu94GlyfsTer24) | COSMIC |
| 3 | g.10142128A>C | CA351750787 | VHL | c.281A>C (p.Glu94Ala) | dbSNP |
| 3 | g.10142128A>G | CA351750790 | VHL | c.281A>G (p.Glu94Gly) | dbSNP |
| 3 | g.10142128A>T | CA351750794 | VHL | c.281A>T (p.Glu94Val) | ClinVar dbSNP |
| 3 | g.10142128_10142129insACAA | CA645524801 | VHL | c.281_282insACAA (p.Pro95GlnfsTer?) | COSMIC |
| 3 | g.10142128_10142138del | CA645524802 | VHL | c.281_291del (p.Glu94ValfsTer?) | COSMIC |
| 3 | g.10142129_10142144del | CA645524800 | VHL | c.282_297del (p.Pro95ArgfsTer17) c.282_297del (p.Pro95ArgfsTer?) c.282_297del (p.Pro95ArgfsTer18) | COSMIC |
| 3 | g.10142129del | CA645524805 | VHL | c.282del (p.Glu94AspfsTer23) c.282del (p.Glu94AspfsTer?) c.282del (p.Glu94AspfsTer24) | COSMIC |
| 3 | g.10142129G>A | CA432420504 | VHL | c.282G>A (p.Glu94=) | ClinVar dbSNP |
| 3 | g.10142129G>C | CA351750796 | VHL | c.282G>C (p.Glu94Asp) | dbSNP |
| 3 | g.10142129G= | CA1345066169 | VHL | c.282G= (p.Glu94=) | |
| 3 | g.10142129G>T | CA351750798 | VHL | c.282G>T (p.Glu94Asp) | ClinVar gnomAD v4 |
| 3 | g.10142129_10142130del | CA645524804 | VHL | c.282_283del (p.Glu94AspfsTer?) | COSMIC |
| 3 | g.10142129_10142138del | CA645524806 | VHL | c.282_291del (p.Glu94AspfsTer20) c.282_291del (p.Glu94AspfsTer?) c.282_291del (p.Glu94AspfsTer21) | COSMIC |
| 3 | g.10142129_10142138dup | CA2573050500 | VHL | c.282_291dup (p.Tyr98AlafsTer?) | |
| 3 | g.10142134_10142154del | CA2573106190 | VHL | c.287_307del (p.Gln96_Pro102del) | |
| 3 | g.10142130C>A | CA351750800 | VHL | c.283C>A (p.Pro95Thr) | gnomAD v4 |
| 3 | g.10142130C= | CA1345066178 | VHL | c.283C= (p.Pro95=) | |
| 3 | g.10142130C>G | CA351750804 | VHL | c.283C>G (p.Pro95Ala) | dbSNP |
| 3 | g.10142130C>T | CA351750807 | VHL | c.283C>T (p.Pro95Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.10142131del | CA2497030172 | VHL | c.284del (p.Pro95ArgfsTer22) c.284del (p.Pro95ArgfsTer?) c.284del (p.Pro95ArgfsTer23) | |
| 3 | g.10142132_10142138del | CA645524808 | VHL | c.285_291del (p.Gln96ThrfsTer19) c.285_291del (p.Gln96ThrfsTer?) c.285_291del (p.Gln96ThrfsTer20) | COSMIC |
| 3 | g.10142130_10142144del | CA645524807 | VHL | c.283_297del (p.Pro95_Pro99del) | COSMIC |
| 3 | g.10142131C>A | CA351750808 | VHL | c.284C>A (p.Pro95Gln) | dbSNP COSMIC |
| 3 | g.10142131C= | CA1345066184 | VHL | c.284C= (p.Pro95=) | |
| 3 | g.10142131C>G | CA351750809 | VHL | c.284C>G (p.Pro95Arg) | ClinVar dbSNP COSMIC |
| 3 | g.10142131C>T | CA70046204 | VHL | c.284C>T (p.Pro95Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10142131_10142132insA | CA645524811 | VHL | c.284_285insA (p.Gln96AlafsTer?) | COSMIC |
| 3 | g.10142132del | CA645524810 | VHL | c.285del (p.Gln96SerfsTer21) c.285del (p.Gln96SerfsTer?) c.285del (p.Gln96SerfsTer22) | COSMIC |
| 3 | g.10142132G>A | CA432420507 | VHL | c.285G>A (p.Pro95=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.10142132G>C | CA432420505 | VHL | c.285G>C (p.Pro95=) | dbSNP |
| 3 | g.10142132G= | CA1345066189 | VHL | c.285G= (p.Pro95=) | |
| 3 | g.10142132G>T | CA70046206 | VHL | c.285G>T (p.Pro95=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10142132dup | CA432420506 | VHL | c.285dup (p.Gln96AlafsTer?) | COSMIC |
| 3 | g.10142134_10142136del | CA645524809 | VHL | c.287_289del (p.Gln96del) | COSMIC |
| 3 | g.10142132_10142133insA | CA432420508 | VHL | c.285_286insA (p.Gln96ThrfsTer?) | COSMIC |
| 3 | g.10142133del | CA432420509 | VHL | c.286del (p.Gln96SerfsTer21) c.286del (p.Gln96SerfsTer?) c.286del (p.Gln96SerfsTer22) | COSMIC |
| 3 | g.10142133C>A | CA351750818 | VHL | c.286C>A (p.Gln96Lys) | |
| 3 | g.10142133C= | CA1345066200 | VHL | c.286C= (p.Gln96=) | |
| 3 | g.10142133C>G | CA351750816 | VHL | c.286C>G (p.Gln96Glu) | |
| 3 | g.10142133C>T | CA351750811 | VHL | c.286C>T (p.Gln96Ter) | ClinVar dbSNP COSMIC |
| 3 | g.10142133_10142135delinsACC | CA2573136088 | VHL | c.286_288delinsACC (p.Gln96Thr) | ClinVar dbSNP |
| 3 | g.10142134_10142138del | CA645524812 | VHL | c.287_291del (p.Gln96LeufsTer?) | COSMIC |