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.10141892_10141951del | CA2664399904 | VHL | c.45_104del (p.Glu16_Ala35del) | gnomAD v4 |
3 | g.10141915_10141959del | CA2516254345 | VHL | c.68_112del (p.Tyr23_Glu37del) | |
3 | g.10141922_10141966del | CA2740090896 | VHL | c.75_119del (p.Glu26_Pro40del) | ClinVar |
3 | g.10141922_10141981del | CA2664399905 | VHL | c.75_134del (p.Glu26_Pro45del) | gnomAD v4 |
3 | g.10141919C>A | CA432536217 | VHL | c.72C>A (p.Gly24=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141919C= | CA1345065097 | VHL | c.72C= (p.Gly24=) | |
3 | g.10141919C>G | CA432536218 | VHL | c.72C>G (p.Gly24=) | |
3 | g.10141919C>T | CA432536219 | VHL | c.72C>T (p.Gly24=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141920C>A | CA351747427 | VHL | c.73C>A (p.Pro25Thr) | |
3 | g.10141920C= | CA1345065101 | VHL | c.73C= (p.Pro25=) | |
3 | g.10141920C>G | CA042053 | VHL | c.73C>G (p.Pro25Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141920C>T | CA351747431 | VHL | c.73C>T (p.Pro25Ser) | dbSNP gnomAD v4 COSMIC |
3 | g.10141921C>A | CA351747436 | VHL | c.74C>A (p.Pro25His) | dbSNP gnomAD v4 |
3 | g.10141921C= | CA1345065107 | VHL | c.74C= (p.Pro25=) | |
3 | g.10141921C>G | CA351747439 | VHL | c.74C>G (p.Pro25Arg) | dbSNP gnomAD v4 |
3 | g.10141921C>T | CA020538 | VHL | c.74C>T (p.Pro25Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141922T>A | CA432536221 | VHL | c.75T>A (p.Pro25=) | |
3 | g.10141922T>C | CA432536222 | VHL | c.75T>C (p.Pro25=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141922T>G | CA432536223 | VHL | c.75T>G (p.Pro25=) | |
3 | g.10141922T= | CA1345065111 | VHL | c.75T= (p.Pro25=) | |
3 | g.10141923G>A | CA351747440 | VHL | c.76G>A (p.Glu26Lys) | ClinVar dbSNP COSMIC |
3 | g.10141923G>C | CA351747441 | VHL | c.76G>C (p.Glu26Gln) | ClinVar |
3 | g.10141923G= | CA1345065120 | VHL | c.76G= (p.Glu26=) | |
3 | g.10141923G>T | CA351747444 | VHL | c.76G>T (p.Glu26Ter) | |
3 | g.10141924A>C | CA351747449 | VHL | c.77A>C (p.Glu26Ala) | gnomAD v4 |
3 | g.10141924A>G | CA351747453 | VHL | c.77A>G (p.Glu26Gly) | ClinVar dbSNP COSMIC |
3 | g.10141924A>T | CA351747457 | VHL | c.77A>T (p.Glu26Val) | dbSNP |
3 | g.10141925A>C | CA351747463 | VHL | c.78A>C (p.Glu26Asp) | |
3 | g.10141925A>G | CA432536224 | VHL | c.78A>G (p.Glu26=) | dbSNP |
3 | g.10141925A>T | CA351747460 | VHL | c.78A>T (p.Glu26Asp) | |
3 | g.10141926G>A | CA351747466 | VHL | c.79G>A (p.Glu27Lys) | dbSNP |
3 | g.10141926G>C | CA351747469 | VHL | c.79G>C (p.Glu27Gln) | dbSNP |
3 | g.10141926G>T | CA351747471 | VHL | c.79G>T (p.Glu27Ter) | |
3 | g.10141927A>C | CA351747474 | VHL | c.80A>C (p.Glu27Ala) | ClinVar |
3 | g.10141927A>G | CA351747476 | VHL | c.80A>G (p.Glu27Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10141927A>T | CA351747480 | VHL | c.80A>T (p.Glu27Val) | |
3 | g.10141928A= | CA1345065124 | VHL | c.81A= (p.Glu27=) | |
3 | g.10141928A>C | CA351747482 | VHL | c.81A>C (p.Glu27Asp) | ClinVar |
3 | g.10141928A>G | CA432536226 | VHL | c.81A>G (p.Glu27=) | COSMIC |
3 | g.10141928A>T | CA351747483 | VHL | c.81A>T (p.Glu27Asp) | dbSNP |
3 | g.10141929G>A | CA351747487 | VHL | c.82G>A (p.Asp28Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.10141929G>C | CA351747494 | VHL | c.82G>C (p.Asp28His) | ClinVar dbSNP |
3 | g.10141929G= | CA1345065135 | VHL | c.82G= (p.Asp28=) | |
3 | g.10141929G>T | CA351747497 | VHL | c.82G>T (p.Asp28Tyr) | dbSNP gnomAD v4 |
3 | g.10141930_10141947dup | CA16042062 | VHL | c.83_100dup (p.Ser33_Gly34insAspGlyGlyGluGluSer) | ClinVar dbSNP |
3 | g.10141930A>C | CA351747504 | VHL | c.83A>C (p.Asp28Ala) | dbSNP |
3 | g.10141930A>G | CA351747510 | VHL | c.83A>G (p.Asp28Gly) | ClinVar dbSNP COSMIC |
3 | g.10141930A>T | CA351747502 | VHL | c.83A>T (p.Asp28Val) | ClinVar dbSNP COSMIC |
3 | g.10141930_10141975delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC | CA1345065141 | VHL | c.83_128delinsACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC (p.Asp28=) | |
3 | g.10141931C>A | CA351747516 | VHL | c.84C>A (p.Asp28Glu) | dbSNP gnomAD v4 |
3 | g.10141931C= | CA1345065145 | VHL | c.84C= (p.Asp28=) | |
3 | g.10141931C>G | CA351747523 | VHL | c.84C>G (p.Asp28Glu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141931C>T | CA432536234 | VHL | c.84C>T (p.Asp28=) | dbSNP gnomAD v4 |
3 | g.10141935_10141979del | CA541213519 | VHL | c.88_132del (p.Gly30_Gly44del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141932G>A | CA351747529 | VHL | c.85G>A (p.Gly29Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141932G>C | CA351747532 | VHL | c.85G>C (p.Gly29Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141932G= | CA1345065149 | VHL | c.85G= (p.Gly29=) | |
3 | g.10141932G>T | CA351747534 | VHL | c.85G>T (p.Gly29Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141933G>A | CA351747540 | VHL | c.86G>A (p.Gly29Asp) | dbSNP COSMIC |
3 | g.10141933G>C | CA351747542 | VHL | c.86G>C (p.Gly29Ala) | ClinVar dbSNP |
3 | g.10141933G= | CA1345065156 | VHL | c.86G= (p.Gly29=) | |
3 | g.10141933G>T | CA351747555 | VHL | c.86G>T (p.Gly29Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10141933_10141934delinsGC | CA1345065160 | VHL | c.86_87delinsGC (p.Gly29=) | |
3 | g.10141933_10141934delinsTT | CA10584228 | VHL | c.86_87delinsTT (p.Gly29Val) | ClinVar dbSNP |
3 | g.10141934C>A | CA432536238 | VHL | c.87C>A (p.Gly29=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141934C= | CA1345065165 | VHL | c.87C= (p.Gly29=) | |
3 | g.10141934C>G | CA432536240 | VHL | c.87C>G (p.Gly29=) | |
3 | g.10141934C>T | CA70042244 | VHL | c.87C>T (p.Gly29=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141935G>A | CA70042258 | VHL | c.88G>A (p.Gly30Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141935G>C | CA351747563 | VHL | c.88G>C (p.Gly30Arg) | ClinVar dbSNP |
3 | g.10141935G= | CA1345065170 | VHL | c.88G= (p.Gly30=) | |
3 | g.10141935G>T | CA351747567 | VHL | c.88G>T (p.Gly30Trp) | ClinVar dbSNP gnomAD v4 |
3 | g.10141938del | CA2580068386 | VHL | c.91del (p.Glu31ArgfsTer?) | ClinVar |
3 | g.10141937_10141938del | CA645524627 | VHL | c.90_91del (p.Glu31GlyfsTer?) | COSMIC COSMIC |
3 | g.10141936G>A | CA16617781 | VHL | c.89G>A (p.Gly30Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141936G>C | CA351747570 | VHL | c.89G>C (p.Gly30Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141936G= | CA1345065177 | VHL | c.89G= (p.Gly30=) | |
3 | g.10141936G>T | CA351747574 | VHL | c.89G>T (p.Gly30Val) | gnomAD v4 |
3 | g.10141936_10142144del | CA2573050894 | VHL | c.89_297del (p.Gly30AspfsTer?) | |
3 | g.10141937G>A | CA432536244 | VHL | c.90G>A (p.Gly30=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141937G>C | CA70042260 | VHL | c.90G>C (p.Gly30=) | dbSNP |
3 | g.10141937G= | CA1345065182 | VHL | c.90G= (p.Gly30=) | |
3 | g.10141937G>T | CA432536245 | VHL | c.90G>T (p.Gly30=) | dbSNP |
3 | g.10141940_10141969dup | CA1345065181 | VHL | c.93_122dup (p.Glu41_Glu42insGluSerGlyAlaGluGluSerGlyProGlu) | ClinVar dbSNP |
3 | g.10141938G>A | CA351747595 | VHL | c.91G>A (p.Glu31Lys) | |
3 | g.10141938G>C | CA351747597 | VHL | c.91G>C (p.Glu31Gln) | |
3 | g.10141938G= | CA1345065183 | VHL | c.91G= (p.Glu31=) | |
3 | g.10141938G>T | CA351747598 | VHL | c.91G>T (p.Glu31Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.10141946_10141960dup | CA541213520 | VHL | c.99_113dup (p.Ser38_Gly39insGlyAlaGluGluSer) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141939A>C | CA351747599 | VHL | c.92A>C (p.Glu31Ala) | |
3 | g.10141939A>G | CA351747601 | VHL | c.92A>G (p.Glu31Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141939A>T | CA351747605 | VHL | c.92A>T (p.Glu31Val) | |
3 | g.10141940G>A | CA432536248 | VHL | c.93G>A (p.Glu31=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141940G>C | CA351747611 | VHL | c.93G>C (p.Glu31Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141940G= | CA1345065185 | VHL | c.93G= (p.Glu31=) | |
3 | g.10141940G>T | CA351747615 | VHL | c.93G>T (p.Glu31Asp) | |
3 | g.10141941G>A | CA351747616 | VHL | c.94G>A (p.Glu32Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141941G>C | CA351747617 | VHL | c.94G>C (p.Glu32Gln) | gnomAD v4 |
3 | g.10141941G>T | CA351747620 | VHL | c.94G>T (p.Glu32Ter) | dbSNP gnomAD v4 |
3 | g.10141942A= | CA1345065187 | VHL | c.95A= (p.Glu32=) | |
3 | g.10141942A>C | CA351747631 | VHL | c.95A>C (p.Glu32Ala) | |
3 | g.10141942A>G | CA020549 | VHL | c.95A>G (p.Glu32Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141942A>T | CA351747625 | VHL | c.95A>T (p.Glu32Val) | dbSNP gnomAD v4 |
3 | g.10141943G>A | CA432536253 | VHL | c.96G>A (p.Glu32=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141943G>C | CA351747632 | VHL | c.96G>C (p.Glu32Asp) | |
3 | g.10141943G= | CA1345065192 | VHL | c.96G= (p.Glu32=) | |
3 | g.10141943G>T | CA351747635 | VHL | c.96G>T (p.Glu32Asp) | |
3 | g.10141943dup | CA645524628 | VHL | c.96dup (p.Ser33ValfsTer?) | COSMIC |
3 | g.10141944del | CA2573136080 | VHL | c.97del (p.Ser33ArgfsTer?) | ClinVar dbSNP |
3 | g.10141944T>A | CA351747637 | VHL | c.97T>A (p.Ser33Thr) | ClinVar dbSNP |
3 | g.10141944T>C | CA351747643 | VHL | c.97T>C (p.Ser33Pro) | dbSNP |
3 | g.10141944T>G | CA70042266 | VHL | c.97T>G (p.Ser33Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141944T= | CA1345065194 | VHL | c.97T= (p.Ser33=) | |
3 | g.10141944_10141945insG | CA432536255 | VHL | c.97_98insG (p.Ser33CysfsTer?) | |
3 | g.10141945C>A | CA351747649 | VHL | c.98C>A (p.Ser33Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10141945C= | CA1345065201 | VHL | c.98C= (p.Ser33=) | |
3 | g.10141945C>G | CA351747659 | VHL | c.98C>G (p.Ser33Trp) | dbSNP |
3 | g.10141945C>T | CA351747655 | VHL | c.98C>T (p.Ser33Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141945dup | CA2838255654 | VHL | c.98dup (p.Ala35ArgfsTer?) | |
3 | g.10141945_10141990delinsCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT | CA1345065203 | VHL | c.98_143delinsCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACT (p.Ser33=) | |
3 | g.10141946G>A | CA432536259 | VHL | c.99G>A (p.Ser33=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141946G>C | CA70042269 | VHL | c.99G>C (p.Ser33=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141946G= | CA1345065211 | VHL | c.99G= (p.Ser33=) | |
3 | g.10141946G>T | CA432536257 | VHL | c.99G>T (p.Ser33=) | ClinVar gnomAD v4 |
3 | g.10141959_10142003dup | CA915941834 | VHL | c.112_156dup (p.Glu52_Glu53insSerGlyProGluGluSerGlyProGluGluLeuGlyAlaGluGlu) | ClinVar dbSNP gnomAD v4 |
3 | g.10141959_10142003del | CA1139655723 | VHL | c.112_156del (p.Ser38_Glu52del) | ClinVar dbSNP gnomAD v4 |
3 | g.10141946_10141947insA | CA2018007671 | VHL | c.99_100insA (p.Gly34ArgfsTer?) | |
3 | g.10141947G>A | CA351747666 | VHL | c.100G>A (p.Gly34Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141947G>C | CA351747668 | VHL | c.100G>C (p.Gly34Arg) | dbSNP |
3 | g.10141947G>T | CA351747673 | VHL | c.100G>T (p.Gly34Cys) | dbSNP |
3 | g.10141950_10141964dup | CA658655747 | VHL | c.103_117dup (p.Gly39_Pro40insAlaGluGluSerGly) | ClinVar dbSNP |
3 | g.10141948G>A | CA351747681 | VHL | c.101G>A (p.Gly34Asp) | dbSNP |
3 | g.10141948G>C | CA351747685 | VHL | c.101G>C (p.Gly34Ala) | |
3 | g.10141948G>T | CA351747690 | VHL | c.101G>T (p.Gly34Val) | |
3 | g.10141949C>A | CA432536261 | VHL | c.102C>A (p.Gly34=) | dbSNP gnomAD v4 |
3 | g.10141949C= | CA1345065220 | VHL | c.102C= (p.Gly34=) | |
3 | g.10141949C>G | CA432536262 | VHL | c.102C>G (p.Gly34=) | dbSNP |
3 | g.10141949C>T | CA70042274 | VHL | c.102C>T (p.Gly34=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141950G>A | CA351747691 | VHL | c.103G>A (p.Ala35Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141950G>C | CA351747692 | VHL | c.103G>C (p.Ala35Pro) | dbSNP |
3 | g.10141950G= | CA1345065224 | VHL | c.103G= (p.Ala35=) | |
3 | g.10141950G>T | CA351747697 | VHL | c.103G>T (p.Ala35Ser) | gnomAD v4 |
3 | g.10141951C>A | CA020039 | VHL | c.104C>A (p.Ala35Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.10141951C= | CA1345065230 | VHL | c.104C= (p.Ala35=) | |
3 | g.10141951C>G | CA351747711 | VHL | c.104C>G (p.Ala35Gly) | ClinVar dbSNP |
3 | g.10141951C>T | CA70042288 | VHL | c.104C>T (p.Ala35Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141952C>A | CA432536265 | VHL | c.105C>A (p.Ala35=) | ClinVar dbSNP |
3 | g.10141952C= | CA1345065238 | VHL | c.105C= (p.Ala35=) | |
3 | g.10141952C>G | CA432536266 | VHL | c.105C>G (p.Ala35=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141952C>T | CA432536267 | VHL | c.105C>T (p.Ala35=) | dbSNP gnomAD v4 |
3 | g.10141953G>A | CA351747712 | VHL | c.106G>A (p.Glu36Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141953G>C | CA351747716 | VHL | c.106G>C (p.Glu36Gln) | |
3 | g.10141953G= | CA1345065245 | VHL | c.106G= (p.Glu36=) | |
3 | g.10141953G>T | CA351747713 | VHL | c.106G>T (p.Glu36Ter) | ClinVar dbSNP |
3 | g.10141955_10141969dup | CA896158356 | VHL | c.108_122dup (p.Glu41_Glu42insGluSerGlyProGlu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141954A>C | CA351747722 | VHL | c.107A>C (p.Glu36Ala) | dbSNP |
3 | g.10141954A>G | CA351747730 | VHL | c.107A>G (p.Glu36Gly) | |
3 | g.10141954A>T | CA351747734 | VHL | c.107A>T (p.Glu36Val) | |
3 | g.10141954_10141961del | CA2740090899 | VHL | c.107_114del (p.Glu36GlyfsTer?) | ClinVar |
3 | g.10141955G>A | CA432536268 | VHL | c.108G>A (p.Glu36=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10141955G>C | CA351747741 | VHL | c.108G>C (p.Glu36Asp) | |
3 | g.10141955G= | CA1345065250 | VHL | c.108G= (p.Glu36=) | |
3 | g.10141955G>T | CA351747750 | VHL | c.108G>T (p.Glu36Asp) | gnomAD v4 |
3 | g.10141956dup | CA2839075971 | VHL | c.109dup (p.Glu37GlyfsTer?) | |
3 | g.10141955_10141970delinsGGAGTCCGGCCCGGAA | CA1345065249 | VHL | c.108_123delinsGGAGTCCGGCCCGGAA (p.Glu36=) | |
3 | g.10141956G>A | CA351747751 | VHL | c.109G>A (p.Glu37Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141956G>C | CA351747754 | VHL | c.109G>C (p.Glu37Gln) | |
3 | g.10141956G= | CA1345065260 | VHL | c.109G= (p.Glu37=) | |
3 | g.10141956G>T | CA351747760 | VHL | c.109G>T (p.Glu37Ter) | ClinVar dbSNP |
3 | g.10141970_10141984dup | CA541213522 | VHL | c.123_137dup (p.Glu46_Glu47insGluSerGlyProGlu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141970_10141984del | CA039321 | VHL | c.123_137del (p.Glu42_Glu46del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141957A>C | CA351747781 | VHL | c.110A>C (p.Glu37Ala) | |
3 | g.10141957A>G | CA351747786 | VHL | c.110A>G (p.Glu37Gly) | dbSNP gnomAD v4 |
3 | g.10141957A>T | CA351747776 | VHL | c.110A>T (p.Glu37Val) | gnomAD v4 |
3 | g.10141958G>A | CA432536333 | VHL | c.111G>A (p.Glu37=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141958G>C | CA351747799 | VHL | c.111G>C (p.Glu37Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141958G= | CA1345065261 | VHL | c.111G= (p.Glu37=) | |
3 | g.10141958G>T | CA351747806 | VHL | c.111G>T (p.Glu37Asp) | |
3 | g.10141959T>A | CA351747814 | VHL | c.112T>A (p.Ser38Thr) | |
3 | g.10141959T>C | CA351747824 | VHL | c.112T>C (p.Ser38Pro) | |
3 | g.10141959T>G | CA039342 | VHL | c.112T>G (p.Ser38Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141959T= | CA1345065262 | VHL | c.112T= (p.Ser38=) | |
3 | g.10141960C>A | CA70042292 | VHL | c.113C>A (p.Ser38Tyr) | dbSNP gnomAD v4 |
3 | g.10141960C= | CA1345065263 | VHL | c.113C= (p.Ser38=) | |
3 | g.10141960C>G | CA351747836 | VHL | c.113C>G (p.Ser38Cys) | dbSNP |
3 | g.10141960C>T | CA351747838 | VHL | c.113C>T (p.Ser38Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141961del | CA2573047816 | VHL | c.114del (p.Gly39AlafsTer28) | |
3 | g.10141961_10141966del | CA2664399906 | VHL | c.114_119del (p.Gly39_Pro40del) | gnomAD v4 |
3 | g.10141960_10142004del | CA2664399907 | VHL | c.113_157del (p.Ser38Ter) | gnomAD v4 |
3 | g.10141961C>A | CA432536334 | VHL | c.114C>A (p.Ser38=) | |
3 | g.10141961C= | CA1345065265 | VHL | c.114C= (p.Ser38=) | |
3 | g.10141961C>G | CA70042300 | VHL | c.114C>G (p.Ser38=) | dbSNP gnomAD v4 |
3 | g.10141961C>T | CA039351 | VHL | c.114C>T (p.Ser38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141962G>A | CA351747863 | VHL | c.115G>A (p.Gly39Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10141962G>C | CA039367 | VHL | c.115G>C (p.Gly39Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141962G= | CA1345065267 | VHL | c.115G= (p.Gly39=) | |
3 | g.10141962G>T | CA351747874 | VHL | c.115G>T (p.Gly39Cys) | gnomAD v4 |
3 | g.10141963G>A | CA351747884 | VHL | c.116G>A (p.Gly39Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141963G>C | CA351747880 | VHL | c.116G>C (p.Gly39Ala) | ClinVar |
3 | g.10141963G= | CA1345065269 | VHL | c.116G= (p.Gly39=) | |
3 | g.10141963G>T | CA70042314 | VHL | c.116G>T (p.Gly39Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141964C>A | CA432536335 | VHL | c.117C>A (p.Gly39=) | |
3 | g.10141964C= | CA1345065274 | VHL | c.117C= (p.Gly39=) | |
3 | g.10141964C>G | CA432536336 | VHL | c.117C>G (p.Gly39=) | ClinVar dbSNP |
3 | g.10141964C>T | CA16604418 | VHL | c.117C>T (p.Gly39=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141965C>A | CA039380 | VHL | c.118C>A (p.Pro40Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10141965C= | CA1345065280 | VHL | c.118C= (p.Pro40=) | |
3 | g.10141965C>G | CA351747889 | VHL | c.118C>G (p.Pro40Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10141965C>T | CA351747893 | VHL | c.118C>T (p.Pro40Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141966C>A | CA351747894 | VHL | c.119C>A (p.Pro40Gln) | ClinVar gnomAD v4 |
3 | g.10141966C= | CA1345065283 | VHL | c.119C= (p.Pro40=) | |
3 | g.10141966C>G | CA351747895 | VHL | c.119C>G (p.Pro40Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.10141966C>T | CA020046 | VHL | c.119C>T (p.Pro40Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141967G>A | CA432536337 | VHL | c.120G>A (p.Pro40=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141967G>C | CA432536338 | VHL | c.120G>C (p.Pro40=) | dbSNP |
3 | g.10141967G= | CA1345065287 | VHL | c.120G= (p.Pro40=) | |
3 | g.10141967G>T | CA432536339 | VHL | c.120G>T (p.Pro40=) | dbSNP gnomAD v4 |
3 | g.10141968G>A | CA351747902 | VHL | c.121G>A (p.Glu41Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141968G>C | CA351747904 | VHL | c.121G>C (p.Glu41Gln) | dbSNP |
3 | g.10141968G= | CA1345065290 | VHL | c.121G= (p.Glu41=) | |
3 | g.10141968G>T | CA351747922 | VHL | c.121G>T (p.Glu41Ter) | dbSNP gnomAD v4 |
3 | g.10141969A= | CA1345065292 | VHL | c.122A= (p.Glu41=) | |
3 | g.10141969A>C | CA351747928 | VHL | c.122A>C (p.Glu41Ala) | ClinVar dbSNP |
3 | g.10141969A>G | CA351747932 | VHL | c.122A>G (p.Glu41Gly) | ClinVar dbSNP COSMIC |
3 | g.10141969A>T | CA351747936 | VHL | c.122A>T (p.Glu41Val) | ClinVar dbSNP COSMIC |
3 | g.10141970A>C | CA351747951 | VHL | c.123A>C (p.Glu41Asp) | ClinVar |
3 | g.10141970A>G | CA432536340 | VHL | c.123A>G (p.Glu41=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141970A>T | CA351747945 | VHL | c.123A>T (p.Glu41Asp) | |
3 | g.10141970_10141973del | CA2573136081 | VHL | c.123_126del (p.Glu41AspfsTer25) | ClinVar dbSNP |
3 | g.10141971G>A | CA351747955 | VHL | c.124G>A (p.Glu42Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141971G>C | CA351747976 | VHL | c.124G>C (p.Glu42Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10141971G= | CA1345065294 | VHL | c.124G= (p.Glu42=) | |
3 | g.10141971G>T | CA351747958 | VHL | c.124G>T (p.Glu42Ter) | gnomAD v4 |
3 | g.10141972A= | CA1345065298 | VHL | c.125A= (p.Glu42=) | |
3 | g.10141972A>C | CA16617782 | VHL | c.125A>C (p.Glu42Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10141972A>G | CA351747982 | VHL | c.125A>G (p.Glu42Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10141972A>T | CA351747985 | VHL | c.125A>T (p.Glu42Val) | COSMIC |
3 | g.10141973del | CA16602177 | VHL | c.126del (p.Glu42AspfsTer25) | |
3 | g.10141973G>A | CA432536341 | VHL | c.126G>A (p.Glu42=) | |
3 | g.10141973G>C | CA351747990 | VHL | c.126G>C (p.Glu42Asp) | ClinVar gnomAD v4 |
3 | g.10141973G>T | CA351747994 | VHL | c.126G>T (p.Glu42Asp) | |
3 | g.10141974T>A | CA351747998 | VHL | c.127T>A (p.Ser43Thr) | dbSNP gnomAD v4 |
3 | g.10141974T>C | CA351748001 | VHL | c.127T>C (p.Ser43Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.10141974T>G | CA351748006 | VHL | c.127T>G (p.Ser43Ala) | dbSNP |
3 | g.10141974T= | CA1345065301 | VHL | c.127T= (p.Ser43=) | |
3 | g.10141975C>A | CA70042349 | VHL | c.128C>A (p.Ser43Tyr) | ClinVar dbSNP gnomAD v4 |
3 | g.10141975C= | CA1345065302 | VHL | c.128C= (p.Ser43=) | |
3 | g.10141975C>G | CA351748024 | VHL | c.128C>G (p.Ser43Cys) | ClinVar dbSNP |
3 | g.10141975C>T | CA351748026 | VHL | c.128C>T (p.Ser43Phe) | dbSNP COSMIC |
3 | g.10141976C>A | CA432536342 | VHL | c.129C>A (p.Ser43=) | gnomAD v4 |
3 | g.10141976C= | CA1345065304 | VHL | c.129C= (p.Ser43=) | |
3 | g.10141976C>G | CA432536343 | VHL | c.129C>G (p.Ser43=) | ClinVar dbSNP |
3 | g.10141976C>T | CA350263 | VHL | c.129C>T (p.Ser43=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141977G>A | CA351748044 | VHL | c.130G>A (p.Gly44Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.10141977G>C | CA351748058 | VHL | c.130G>C (p.Gly44Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.10141977G= | CA1345065308 | VHL | c.130G= (p.Gly44=) | |
3 | g.10141977G>T | CA351748054 | VHL | c.130G>T (p.Gly44Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141978del | CA16602178 | VHL | c.131del (p.Gly44AlafsTer23) | |
3 | g.10141978G>A | CA70042374 | VHL | c.131G>A (p.Gly44Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141978G>C | CA351748061 | VHL | c.131G>C (p.Gly44Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10141978G= | CA1345065311 | VHL | c.131G= (p.Gly44=) | |
3 | g.10141978G>T | CA351748065 | VHL | c.131G>T (p.Gly44Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10141979C>A | CA432536344 | VHL | c.132C>A (p.Gly44=) | dbSNP gnomAD v4 |
3 | g.10141979C= | CA1345065314 | VHL | c.132C= (p.Gly44=) | |
3 | g.10141979C>G | CA432536346 | VHL | c.132C>G (p.Gly44=) | ClinVar dbSNP |
3 | g.10141979C>T | CA432536345 | VHL | c.132C>T (p.Gly44=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141980C>A | CA351748068 | VHL | c.133C>A (p.Pro45Thr) | dbSNP gnomAD v4 |
3 | g.10141980C= | CA1345065319 | VHL | c.133C= (p.Pro45=) | |
3 | g.10141980C>G | CA351748071 | VHL | c.133C>G (p.Pro45Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10141980C>T | CA351748076 | VHL | c.133C>T (p.Pro45Ser) | ClinVar COSMIC |
3 | g.10141981_10141982insAGTTCCTCCGGGCCGGACTCTTCCGGGCC | CA2573136082 | VHL | c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC (p.Glu46ValfsTer31) | ClinVar dbSNP |
3 | g.10141981C>A | CA351748077 | VHL | c.134C>A (p.Pro45Gln) | dbSNP gnomAD v4 |
3 | g.10141981C= | CA1345065324 | VHL | c.134C= (p.Pro45=) | |
3 | g.10141981C>G | CA039433 | VHL | c.134C>G (p.Pro45Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141981C>T | CA70042375 | VHL | c.134C>T (p.Pro45Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141982G>A | CA039449 | VHL | c.135G>A (p.Pro45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141982G>C | CA432536347 | VHL | c.135G>C (p.Pro45=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141982G= | CA1345065329 | VHL | c.135G= (p.Pro45=) | |
3 | g.10141982G>T | CA432536348 | VHL | c.135G>T (p.Pro45=) | ClinVar gnomAD v4 |
3 | g.10141982_10142005delinsGGAGGAACTGGGCGCCGAGGAGGA | CA1345065328 | VHL | c.135_158delinsGGAGGAACTGGGCGCCGAGGAGGA (p.Pro45=) | |
3 | g.10141983G>A | CA351748088 | VHL | c.136G>A (p.Glu46Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141983G>C | CA351748093 | VHL | c.136G>C (p.Glu46Gln) | |
3 | g.10141983G= | CA1345065336 | VHL | c.136G= (p.Glu46=) | |
3 | g.10141983G>T | CA351748085 | VHL | c.136G>T (p.Glu46Ter) | |
3 | g.10141985_10142007del | CA896158519 | VHL | c.138_160del (p.Glu46AspfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141984A>C | CA351748098 | VHL | c.137A>C (p.Glu46Ala) | ClinVar gnomAD v4 |
3 | g.10141984A>G | CA351748110 | VHL | c.137A>G (p.Glu46Gly) | dbSNP gnomAD v4 |
3 | g.10141984A>T | CA351748113 | VHL | c.137A>T (p.Glu46Val) | dbSNP |
3 | g.10141985G>A | CA432536349 | VHL | c.138G>A (p.Glu46=) | dbSNP gnomAD v4 |
3 | g.10141985G>C | CA351748124 | VHL | c.138G>C (p.Glu46Asp) | |
3 | g.10141985G>T | CA351748127 | VHL | c.138G>T (p.Glu46Asp) | ClinVar |
3 | g.10141986G>A | CA351748134 | VHL | c.139G>A (p.Glu47Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141986G>C | CA351748138 | VHL | c.139G>C (p.Glu47Gln) | gnomAD v4 |
3 | g.10141986G= | CA1345065342 | VHL | c.139G= (p.Glu47=) | |
3 | g.10141986G>T | CA351748143 | VHL | c.139G>T (p.Glu47Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.10141986_10141988delinsAAG | CA645524630 | VHL | c.139_141delinsAAG (p.Glu47Lys) | COSMIC |
3 | g.10141986_10141988delinsAAT | CA645524629 | VHL | c.139_141delinsAAT (p.Glu47Asn) | COSMIC |
3 | g.10141987A>C | CA351748154 | VHL | c.140A>C (p.Glu47Ala) | |
3 | g.10141987A>G | CA351748156 | VHL | c.140A>G (p.Glu47Gly) | dbSNP |
3 | g.10141987A>T | CA351748164 | VHL | c.140A>T (p.Glu47Val) | |
3 | g.10141988A= | CA1345065345 | VHL | c.141A= (p.Glu47=) | |
3 | g.10141988A>C | CA351748173 | VHL | c.141A>C (p.Glu47Asp) | dbSNP |
3 | g.10141988A>G | CA432536350 | VHL | c.141A>G (p.Glu47=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141988A>T | CA351748179 | VHL | c.141A>T (p.Glu47Asp) | dbSNP |
3 | g.10141988_10141991delinsACTG | CA1345065346 | VHL | c.141_144delinsACTG (p.Glu47=) | |
3 | g.10141989C>A | CA351748190 | VHL | c.142C>A (p.Leu48Met) | ClinVar gnomAD v4 |
3 | g.10141989C>G | CA351748186 | VHL | c.142C>G (p.Leu48Val) | dbSNP COSMIC |
3 | g.10141989C>T | CA432536352 | VHL | c.142C>T (p.Leu48=) | dbSNP |
3 | g.10141989_10141991del | CA432536351 | VHL | c.142_144del (p.Leu48del) | dbSNP |
3 | g.10141990T>A | CA351748198 | VHL | c.143T>A (p.Leu48Gln) | ClinVar dbSNP |
3 | g.10141990T>C | CA70042391 | VHL | c.143T>C (p.Leu48Pro) | dbSNP |
3 | g.10141990T>G | CA039460 | VHL | c.143T>G (p.Leu48Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10141990T= | CA1345065356 | VHL | c.143T= (p.Leu48=) | |
3 | g.10141990_10141992del | CA351748207 | VHL | c.143_145del (p.Leu48_Gly49delinsArg) | |
3 | g.10141991G>A | CA432536353 | VHL | c.144G>A (p.Leu48=) | dbSNP gnomAD v4 COSMIC |
3 | g.10141991G>C | CA432536354 | VHL | c.144G>C (p.Leu48=) | dbSNP gnomAD v2 |
3 | g.10141991G= | CA1345065361 | VHL | c.144G= (p.Leu48=) | |
3 | g.10141991G>T | CA432536355 | VHL | c.144G>T (p.Leu48=) | |
3 | g.10141992G>A | CA351748211 | VHL | c.145G>A (p.Gly49Ser) | dbSNP gnomAD v4 |
3 | g.10141992G>C | CA351748216 | VHL | c.145G>C (p.Gly49Arg) | ClinVar dbSNP |
3 | g.10141992G= | CA1345065365 | VHL | c.145G= (p.Gly49=) | |
3 | g.10141992G>T | CA351748217 | VHL | c.145G>T (p.Gly49Cys) | dbSNP COSMIC |
3 | g.10141993G>A | CA351748218 | VHL | c.146G>A (p.Gly49Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10141993G>C | CA351748220 | VHL | c.146G>C (p.Gly49Ala) | |
3 | g.10141993G= | CA1345065369 | VHL | c.146G= (p.Gly49=) | |
3 | g.10141993G>T | CA351748222 | VHL | c.146G>T (p.Gly49Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10141994C>A | CA432536356 | VHL | c.147C>A (p.Gly49=) | ClinVar gnomAD v4 |
3 | g.10141994C= | CA1345065374 | VHL | c.147C= (p.Gly49=) | |
3 | g.10141994C>G | CA432536357 | VHL | c.147C>G (p.Gly49=) | ClinVar |
3 | g.10141994C>T | CA432536358 | VHL | c.147C>T (p.Gly49=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141995G>A | CA351748226 | VHL | c.148G>A (p.Ala50Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141995G>C | CA351748241 | VHL | c.148G>C (p.Ala50Pro) | ClinVar dbSNP COSMIC |
3 | g.10141995G= | CA1345065378 | VHL | c.148G= (p.Ala50=) | |
3 | g.10141995G>T | CA351748246 | VHL | c.148G>T (p.Ala50Ser) | gnomAD v4 |
3 | g.10141996C>A | CA351748264 | VHL | c.149C>A (p.Ala50Asp) | gnomAD v4 |
3 | g.10141996C= | CA1345065385 | VHL | c.149C= (p.Ala50=) | |
3 | g.10141996C>G | CA351748259 | VHL | c.149C>G (p.Ala50Gly) | ClinVar dbSNP COSMIC |
3 | g.10141996C>T | CA039477 | VHL | c.149C>T (p.Ala50Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.10141997C>A | CA10582112 | VHL | c.150C>A (p.Ala50=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141997C= | CA1345065389 | VHL | c.150C= (p.Ala50=) | |
3 | g.10141997C>G | CA020051 | VHL | c.150C>G (p.Ala50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141997C>T | CA432536359 | VHL | c.150C>T (p.Ala50=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141998G>A | CA351748278 | VHL | c.151G>A (p.Glu51Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141998G>C | CA351748282 | VHL | c.151G>C (p.Glu51Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141998G= | CA1345065396 | VHL | c.151G= (p.Glu51=) | |
3 | g.10141998G>T | CA351748286 | VHL | c.151G>T (p.Glu51Ter) | dbSNP gnomAD v4 COSMIC |
3 | g.10142004_10142006del | CA2580614138 | VHL | c.157_159del (p.Glu53del) | ClinVar |
3 | g.10141999A>C | CA351748293 | VHL | c.152A>C (p.Glu51Ala) | |
3 | g.10141999A>G | CA351748306 | VHL | c.152A>G (p.Glu51Gly) | |
3 | g.10141999A>T | CA351748311 | VHL | c.152A>T (p.Glu51Val) | |
3 | g.10142000G>A | CA432536360 | VHL | c.153G>A (p.Glu51=) | gnomAD v4 |
3 | g.10142000G>C | CA351748318 | VHL | c.153G>C (p.Glu51Asp) | gnomAD v4 |
3 | g.10142000G>T | CA351748328 | VHL | c.153G>T (p.Glu51Asp) | gnomAD v4 |
3 | g.10142001_10142013del | CA645524631 | VHL | c.154_166del (p.Glu52ProfsTer11) | COSMIC |
3 | g.10142002_10142043del | CA645524632 | VHL | c.155_196del (p.Glu52_Ser65del) | COSMIC |
3 | g.10142001G>A | CA020056 | VHL | c.154G>A (p.Glu52Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142001G>C | CA351748337 | VHL | c.154G>C (p.Glu52Gln) | dbSNP |
3 | g.10142001G= | CA1345065401 | VHL | c.154G= (p.Glu52=) | |
3 | g.10142001G>T | CA020061 | VHL | c.154G>T (p.Glu52Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142002A>C | CA351748344 | VHL | c.155A>C (p.Glu52Ala) | |
3 | g.10142002A>G | CA351748359 | VHL | c.155A>G (p.Glu52Gly) | dbSNP gnomAD v4 |
3 | g.10142002A>T | CA351748368 | VHL | c.155A>T (p.Glu52Val) | |
3 | g.10142003G>A | CA432536361 | VHL | c.156G>A (p.Glu52=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142003G>C | CA351748384 | VHL | c.156G>C (p.Glu52Asp) | |
3 | g.10142003G>T | CA351748373 | VHL | c.156G>T (p.Glu52Asp) | |
3 | g.10142004_10142010del | CA645524633 | VHL | c.157_163del (p.Glu53ArgfsTer12) | COSMIC |
3 | g.10142004G>A | CA351748391 | VHL | c.157G>A (p.Glu53Lys) | dbSNP |
3 | g.10142004G>C | CA351748398 | VHL | c.157G>C (p.Glu53Gln) | |
3 | g.10142004G>T | CA351748408 | VHL | c.157G>T (p.Glu53Ter) | dbSNP |
3 | g.10142005A>C | CA351748426 | VHL | c.158A>C (p.Glu53Ala) | |
3 | g.10142005A>G | CA351748429 | VHL | c.158A>G (p.Glu53Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10142005A>T | CA351748434 | VHL | c.158A>T (p.Glu53Val) | dbSNP |
3 | g.10142006G>A | CA432536362 | VHL | c.159G>A (p.Glu53=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10142006G>C | CA351748444 | VHL | c.159G>C (p.Glu53Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.10142006G= | CA1345065410 | VHL | c.159G= (p.Glu53=) | |
3 | g.10142006G>T | CA351748440 | VHL | c.159G>T (p.Glu53Asp) | gnomAD v4 |
3 | g.10142007_10142016del | CA645524634 | VHL | c.160_169del (p.Met54GlyfsTer10) | COSMIC |
3 | g.10142007_10142021del | CA645524635 | VHL | c.160_174del (p.Met54_Arg58del) | COSMIC |
3 | g.10142007del | CA2586965629 | VHL | c.160del (p.Met54TrpfsTer13) | |
3 | g.10142007A= | CA1345065415 | VHL | c.160A= (p.Met54=) | |
3 | g.10142007A>C | CA351748450 | VHL | c.160A>C (p.Met54Leu) | |
3 | g.10142007A>G | CA351748453 | VHL | c.160A>G (p.Met54Val) | gnomAD v4 |
3 | g.10142007A>T | CA351748458 | VHL | c.160A>T (p.Met54Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.10142007_10142008del | CA913189210 | VHL | c.160_161del (p.Met54GlyfsTer?) | |
3 | g.10142007_10142019del | CA645524637 | VHL | c.160_172del (p.Met54GlyfsTer9) | COSMIC |
3 | g.10142007_10142022del | CA645524636 | VHL | c.160_175del (p.Met54ArgfsTer8) | COSMIC |
3 | g.10142008del | CA645524638 | VHL | c.161del (p.Met54ArgfsTer13) | COSMIC |
3 | g.10142008T>A | CA351748466 | VHL | c.161T>A (p.Met54Lys) | |
3 | g.10142008T>C | CA351748468 | VHL | c.161T>C (p.Met54Thr) | ClinVar dbSNP |
3 | g.10142008T>G | CA351748469 | VHL | c.161T>G (p.Met54Arg) | ClinVar |
3 | g.10142008T= | CA1345065421 | VHL | c.161T= (p.Met54=) | |
3 | g.10142008dup | CA2497028723 | VHL | c.161dup (p.Met54IlefsTer?) | |
3 | g.10142008_10142009delinsTG | CA1345065424 | VHL | c.161_162delinsTG (p.Met54=) | |
3 | g.10142009G>A | CA351748478 | VHL | c.162G>A (p.Met54Ile) | ClinVar dbSNP |
3 | g.10142009G>C | CA351748485 | VHL | c.162G>C (p.Met54Ile) | |
3 | g.10142009G>T | CA351748488 | VHL | c.162G>T (p.Met54Ile) | |
3 | g.10142010dup | CA357082 | VHL | c.163dup (p.Glu55GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
3 | g.10142010del | CA432536363 | VHL | c.163del (p.Glu55ArgfsTer12) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.10142009_10142013del | CA645524639 | VHL | c.162_166del (p.Met54IlefsTer?) | COSMIC |
3 | g.10142011_10142018dup | CA10602889 | VHL | c.164_171dup (p.Arg60GlyfsTer10) | ClinVar dbSNP |
3 | g.10142009_10142010insT | CA2499307063 | VHL | c.162_163insT (p.Glu55Ter) | |
3 | g.10142010G>A | CA351748489 | VHL | c.163G>A (p.Glu55Lys) | dbSNP |
3 | g.10142010G>C | CA351748491 | VHL | c.163G>C (p.Glu55Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10142010G>T | CA351748495 | VHL | c.163G>T (p.Glu55Ter) | COSMIC |
3 | g.10142011_10142012del | CA645524641 | VHL | c.164_165del (p.Glu55GlyfsTer?) | COSMIC |
3 | g.10142010_10142039del | CA645524640 | VHL | c.163_192del (p.Glu55_Arg64del) | COSMIC |
3 | g.10142011del | CA645524642 | VHL | c.164del (p.Glu55GlyfsTer12) | COSMIC |
3 | g.10142011A= | CA1345065438 | VHL | c.164A= (p.Glu55=) | |
3 | g.10142011A>C | CA351748507 | VHL | c.164A>C (p.Glu55Ala) | |
3 | g.10142011A>G | CA351748514 | VHL | c.164A>G (p.Glu55Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10142011A>T | CA351748518 | VHL | c.164A>T (p.Glu55Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142011dup | CA658795187 | VHL | c.164dup (p.Ala56GlyfsTer?) | |
3 | g.10142012G>A | CA432536364 | VHL | c.165G>A (p.Glu55=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142012G>C | CA351748530 | VHL | c.165G>C (p.Glu55Asp) | |
3 | g.10142012G= | CA1345065445 | VHL | c.165G= (p.Glu55=) | |
3 | g.10142012G>T | CA351748533 | VHL | c.165G>T (p.Glu55Asp) | gnomAD v4 |
3 | g.10142013dup | CA645524645 | VHL | c.166dup (p.Ala56GlyfsTer?) | COSMIC COSMIC |
3 | g.10142013del | CA432536365 | VHL | c.166del (p.Ala56ProfsTer11) | COSMIC |
3 | g.10142015_10142019del | CA645524643 | VHL | c.168_172del (p.Gly57AlafsTer?) | COSMIC |
3 | g.10142017_10142024del | CA645524644 | VHL | c.170_177del (p.Gly57AlafsTer?) | ClinVar COSMIC COSMIC |
3 | g.10142012_10142013insA | CA645524648 | VHL | c.165_166insA (p.Ala56SerfsTer?) | COSMIC |
3 | g.10142013G>A | CA351748538 | VHL | c.166G>A (p.Ala56Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10142013G>C | CA351748541 | VHL | c.166G>C (p.Ala56Pro) | |
3 | g.10142013G= | CA1345065449 | VHL | c.166G= (p.Ala56=) | |
3 | g.10142013G>T | CA351748548 | VHL | c.166G>T (p.Ala56Ser) | gnomAD v4 |
3 | g.10142014_10142020del | CA645524646 | VHL | c.167_173del (p.Ala56GlyfsTer9) | COSMIC |
3 | g.10142014_10142026del | CA645524647 | VHL | c.167_179del (p.Ala56GlyfsTer7) | COSMIC |
3 | g.10142013_10142014insA | CA432536366 | VHL | c.166_167insA (p.Ala56AspfsTer?) | |
3 | g.10142014C>A | CA039553 | VHL | c.167C>A (p.Ala56Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142014C= | CA1345065457 | VHL | c.167C= (p.Ala56=) | |
3 | g.10142014C>G | CA039566 | VHL | c.167C>G (p.Ala56Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142014C>T | CA020064 | VHL | c.167C>T (p.Ala56Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10142014_10142052del | CA645524649 | VHL | c.167_205del (p.Ala56_Arg69delinsGly) | COSMIC |
3 | g.10142014_10142015insA | CA916084344 | VHL | c.167_168insA (p.Gly57ArgfsTer?) | |
3 | g.10142015C>A | CA432536367 | VHL | c.168C>A (p.Ala56=) | ClinVar dbSNP gnomAD v4 |
3 | g.10142015C= | CA1345065468 | VHL | c.168C= (p.Ala56=) | |
3 | g.10142015C>G | CA348969 | VHL | c.168C>G (p.Ala56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142015C>T | CA16611168 | VHL | c.168C>T (p.Ala56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10142018_10142021del | CA645524653 | VHL | c.171_174del (p.Pro59GlyfsTer7) | COSMIC |
3 | g.10142018_10142027del | CA645524652 | VHL | c.171_180del (p.Arg58ProfsTer6) | COSMIC |
3 | g.10142015_10142031del | CA645524650 | VHL | c.168_184del (p.Gly57AlafsTer?) | COSMIC |
3 | g.10142016_10142034del | CA645524651 | VHL | c.169_187del (p.Gly57CysfsTer4) | COSMIC |
3 | g.10142016G>A | CA351748598 | VHL | c.169G>A (p.Gly57Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.10142016G>C | CA16617783 | VHL | c.169G>C (p.Gly57Arg) | ClinVar dbSNP |
3 | g.10142016G= | CA1345065473 | VHL | c.169G= (p.Gly57=) | |
3 | g.10142016G>T | CA351748610 | VHL | c.169G>T (p.Gly57Trp) | ClinVar dbSNP gnomAD v4 |
3 | g.10142018del | CA432536368 | VHL | c.171del (p.Arg58GlyfsTer9) | COSMIC COSMIC |
3 | g.10142017G>A | CA351748614 | VHL | c.170G>A (p.Gly57Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.10142017G>C | CA351748619 | VHL | c.170G>C (p.Gly57Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10142017G= | CA1345065478 | VHL | c.170G= (p.Gly57=) | |
3 | g.10142017G>T | CA039599 | VHL | c.170G>T (p.Gly57Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142017_10142022dup | CA2664399908 | VHL | c.170_175dup (p.Arg58_Pro59insArgArg) | gnomAD v4 |
3 | g.10142018_10142024del | CA645524654 | VHL | c.171_177del (p.Arg58GlyfsTer7) | COSMIC |
3 | g.10142018G>A | CA432536369 | VHL | c.171G>A (p.Gly57=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142018G>C | CA432536370 | VHL | c.171G>C (p.Gly57=) | ClinVar dbSNP COSMIC |
3 | g.10142018G= | CA1345065483 | VHL | c.171G= (p.Gly57=) | |
3 | g.10142018G>T | CA039611 | VHL | c.171G>T (p.Gly57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10142018delinsCCGGCCGGC | CA645524655 | VHL | c.171delinsCCGGCCGGC (p.Arg60AlafsTer10) | COSMIC |
3 | g.10142024_10142029dup | CA1044994897 | VHL | c.177_182dup (p.Pro61_Val62insArgPro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.10142024_10142029del | CA2701984727 | VHL | c.177_182del (p.Arg60_Pro61del) | dbSNP |
3 | g.10142021_10142038del | CA2573320481 | VHL | c.174_191del (p.Pro59_Arg64del) | |
3 | g.10142019C>A | CA039628 | VHL | c.172C>A (p.Arg58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.10142019C= | CA1345065491 | VHL | c.172C= (p.Arg58=) | |
3 | g.10142019C>G | CA351748632 | VHL | c.172C>G (p.Arg58Gly) | dbSNP |
3 | g.10142019C>T | CA039640 | VHL | c.172C>T (p.Arg58Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10142019_10142020delinsTA | CA645524656 | VHL | c.172_173delinsTA (p.Arg58Ter) | COSMIC |
3 | g.10142021_10142024del | CA645524658 | VHL | c.174_177del (p.Pro59GlyfsTer7) | COSMIC |
3 | g.10142020_10142029del | CA645524657 | VHL | c.173_182del (p.Arg58ProfsTer6) | COSMIC |