Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.10133799_10141895del | CA16043394 | ClinVar | ||
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.10141848_10141864del | CA645524623 | VHL | c.1_17del (p.Met1GlufsTer20) | COSMIC |
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.10141847_10141867del | CA645524624 | VHL | c.-1_20del | COSMIC |
3 | g.10141847_10141867dup | CA896157844 | VHL | c.-1_20dup (p.Glu6_Asn7insLysMetProArgArgAlaGlu) | dbSNP |
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.10141860_10141878dup | CA432536126 | VHL | c.13_31dup (p.Ala11GlyfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141861_10141863del | CA645524625 | VHL | c.14_16del (p.Ala5del) | COSMIC |
3 | g.10141861C>A | CA351747029 | VHL | c.14C>A (p.Ala5Glu) | gnomAD v4 |
3 | g.10141861C= | CA1345064812 | VHL | c.14C= (p.Ala5=) | |
3 | g.10141861C>G | CA351747030 | VHL | c.14C>G (p.Ala5Gly) | dbSNP |
3 | g.10141861C>T | CA039495 | VHL | c.14C>T (p.Ala5Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141863_10141881dup | CA16617778 | VHL | c.16_34dup (p.Glu12GlyfsTer21) | ClinVar dbSNP |
3 | g.10141862G>A | CA432536140 | VHL | c.15G>A (p.Ala5=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141862G>C | CA432536142 | VHL | c.15G>C (p.Ala5=) | |
3 | g.10141862G= | CA1345064814 | VHL | c.15G= (p.Ala5=) | |
3 | g.10141862G>T | CA432536139 | VHL | c.15G>T (p.Ala5=) | |
3 | g.10141863G>A | CA039578 | VHL | c.16G>A (p.Glu6Lys) | dbSNP ExAC gnomAD v2 |
3 | g.10141863G>C | CA351747031 | VHL | c.16G>C (p.Glu6Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10141863G= | CA1345064818 | VHL | c.16G= (p.Glu6=) | |
3 | g.10141863G>T | CA351747032 | VHL | c.16G>T (p.Glu6Ter) | ClinVar dbSNP |
3 | g.10141864A= | CA1345064822 | VHL | c.17A= (p.Glu6=) | |
3 | g.10141864A>C | CA351747033 | VHL | c.17A>C (p.Glu6Ala) | ClinVar dbSNP |
3 | g.10141864A>G | CA351747034 | VHL | c.17A>G (p.Glu6Gly) | dbSNP gnomAD v4 |
3 | g.10141864A>T | CA351747035 | VHL | c.17A>T (p.Glu6Val) | dbSNP gnomAD v4 |
3 | g.10141864_10141882dup | CA2825001164 | VHL | c.17_35dup (p.Val13GlufsTer20) | ClinVar |
3 | g.10141865G>A | CA432536144 | VHL | c.18G>A (p.Glu6=) | ClinVar dbSNP |
3 | g.10141865G>C | CA351747037 | VHL | c.18G>C (p.Glu6Asp) | ClinVar |
3 | g.10141865G= | CA1345064825 | VHL | c.18G= (p.Glu6=) | |
3 | g.10141865G>T | CA16611153 | VHL | c.18G>T (p.Glu6Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141866A= | CA1345064828 | VHL | c.19A= (p.Asn7=) | |
3 | g.10141866A>C | CA351747040 | VHL | c.19A>C (p.Asn7His) | |
3 | g.10141866A>G | CA351747044 | VHL | c.19A>G (p.Asn7Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141866A>T | CA351747041 | VHL | c.19A>T (p.Asn7Tyr) | |
3 | g.10141867A= | CA1345064835 | VHL | c.20A= (p.Asn7=) | |
3 | g.10141867A>C | CA351747046 | VHL | c.20A>C (p.Asn7Thr) | ClinVar dbSNP COSMIC |
3 | g.10141867A>G | CA351747048 | VHL | c.20A>G (p.Asn7Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.10141867A>T | CA351747050 | VHL | c.20A>T (p.Asn7Ile) | ClinVar dbSNP |
3 | g.10141869_10141874dup | CA1345064834 | VHL | c.22_27dup (p.Asp9_Glu10insTrpAsp) | ClinVar dbSNP |
3 | g.10141868C>A | CA16611156 | VHL | c.21C>A (p.Asn7Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141868C= | CA1345064848 | VHL | c.21C= (p.Asn7=) | |
3 | g.10141868C>G | CA351747053 | VHL | c.21C>G (p.Asn7Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141868C>T | CA432536148 | VHL | c.21C>T (p.Asn7=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141869T>A | CA351747055 | VHL | c.22T>A (p.Trp8Arg) | |
3 | g.10141869T>C | CA351747057 | VHL | c.22T>C (p.Trp8Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141869T>G | CA351747059 | VHL | c.22T>G (p.Trp8Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10141869T= | CA1345064856 | VHL | c.22T= (p.Trp8=) | |
3 | g.10141870G>A | CA16611056 | VHL | c.23G>A (p.Trp8Ter) | ClinVar dbSNP |
3 | g.10141870G>C | CA351747061 | VHL | c.23G>C (p.Trp8Ser) | |
3 | g.10141870G= | CA1345064861 | VHL | c.23G= (p.Trp8=) | |
3 | g.10141870G>T | CA351747063 | VHL | c.23G>T (p.Trp8Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.10141871_10141881dup | CA2664399903 | VHL | c.24_34dup (p.Glu12GlyfsTer6) | gnomAD v4 |
3 | g.10141871G>A | CA351747069 | VHL | c.24G>A (p.Trp8Ter) | COSMIC |
3 | g.10141871G>C | CA351747065 | VHL | c.24G>C (p.Trp8Cys) | |
3 | g.10141871G>T | CA351747066 | VHL | c.24G>T (p.Trp8Cys) | dbSNP |
3 | g.10141872G>A | CA020190 | VHL | c.25G>A (p.Asp9Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141872G>C | CA351747072 | VHL | c.25G>C (p.Asp9His) | ClinVar dbSNP gnomAD v4 |
3 | g.10141872G= | CA1345064872 | VHL | c.25G= (p.Asp9=) | |
3 | g.10141872G>T | CA040085 | VHL | c.25G>T (p.Asp9Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10141873_10141890dup | CA2586965626 | VHL | c.26_43dup (p.Gly14_Ala15insAspGluAlaGluValGly) | |
3 | g.10141873A= | CA1345064877 | VHL | c.26A= (p.Asp9=) | |
3 | g.10141873A>C | CA16611161 | VHL | c.26A>C (p.Asp9Ala) | ClinVar dbSNP |
3 | g.10141873A>G | CA351747074 | VHL | c.26A>G (p.Asp9Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10141873A>T | CA351747079 | VHL | c.26A>T (p.Asp9Val) | ClinVar gnomAD v4 |
3 | g.10141874C>A | CA16611250 | VHL | c.27C>A (p.Asp9Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141874C= | CA1345064883 | VHL | c.27C= (p.Asp9=) | |
3 | g.10141874C>G | CA351747082 | VHL | c.27C>G (p.Asp9Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.10141874C>T | CA16611251 | VHL | c.27C>T (p.Asp9=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141875G>A | CA16043991 | VHL | c.28G>A (p.Glu10Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141875G>C | CA351747087 | VHL | c.28G>C (p.Glu10Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.10141875G= | CA1345064893 | VHL | c.28G= (p.Glu10=) | |
3 | g.10141875G>T | CA351747089 | VHL | c.28G>T (p.Glu10Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.10141876A= | CA1345064904 | VHL | c.29A= (p.Glu10=) | |
3 | g.10141876A>C | CA351747093 | VHL | c.29A>C (p.Glu10Ala) | ClinVar |
3 | g.10141876A>G | CA351747095 | VHL | c.29A>G (p.Glu10Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141876A>T | CA020251 | VHL | c.29A>T (p.Glu10Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10141877G>A | CA432536155 | VHL | c.30G>A (p.Glu10=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141877G>C | CA70042189 | VHL | c.30G>C (p.Glu10Asp) | ClinVar dbSNP |
3 | g.10141877G= | CA1345064914 | VHL | c.30G= (p.Glu10=) | |
3 | g.10141877G>T | CA16611059 | VHL | c.30G>T (p.Glu10Asp) | ClinVar dbSNP gnomAD v2 |
3 | g.10141878G>A | CA351747099 | VHL | c.31G>A (p.Ala11Thr) | COSMIC |
3 | g.10141878G>C | CA351747101 | VHL | c.31G>C (p.Ala11Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141878G= | CA1345064919 | VHL | c.31G= (p.Ala11=) | |
3 | g.10141878G>T | CA351747111 | VHL | c.31G>T (p.Ala11Ser) | ClinVar dbSNP |
3 | g.10141879C>A | CA351747116 | VHL | c.32C>A (p.Ala11Asp) | dbSNP gnomAD v4 |
3 | g.10141879C>G | CA351747119 | VHL | c.32C>G (p.Ala11Gly) | dbSNP gnomAD v4 |
3 | g.10141879C>T | CA351747124 | VHL | c.32C>T (p.Ala11Val) | dbSNP gnomAD v4 |
3 | g.10141880C>A | CA432536158 | VHL | c.33C>A (p.Ala11=) | gnomAD v4 |
3 | g.10141880C= | CA1345064923 | VHL | c.33C= (p.Ala11=) | |
3 | g.10141880C>G | CA040357 | VHL | c.33C>G (p.Ala11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.10141880C>T | CA432536159 | VHL | c.33C>T (p.Ala11=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141880_10141885dup | CA2580068384 | VHL | c.33_38dup (p.Val13_Gly14insGluVal) | ClinVar |
3 | g.10141881G>A | CA351747129 | VHL | c.34G>A (p.Glu12Lys) | dbSNP gnomAD v4 COSMIC |
3 | g.10141881G>C | CA16617779 | VHL | c.34G>C (p.Glu12Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141881G= | CA1345064929 | VHL | c.34G= (p.Glu12=) | |
3 | g.10141881G>T | CA351747132 | VHL | c.34G>T (p.Glu12Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141881_10141882delinsGA | CA1345064926 | VHL | c.34_35delinsGA (p.Glu12=) | |
3 | g.10141881_10141882delinsTT | CA1139655721 | VHL | c.34_35delinsTT (p.Glu12Leu) | ClinVar dbSNP |
3 | g.10141885_10141899dup | CA2573136079 | VHL | c.38_52dup (p.Glu17_Ala18insValGlyAlaGluGlu) | ClinVar dbSNP |
3 | g.10141885_10141899del | CA2499216348 | VHL | c.38_52del (p.Val13_Glu17del) | ClinVar dbSNP |
3 | g.10141882A= | CA1345064931 | VHL | c.35A= (p.Glu12=) | |
3 | g.10141882A>C | CA351747134 | VHL | c.35A>C (p.Glu12Ala) | gnomAD v4 |
3 | g.10141882A>G | CA351747137 | VHL | c.35A>G (p.Glu12Gly) | ClinVar dbSNP |
3 | g.10141882A>T | CA351747133 | VHL | c.35A>T (p.Glu12Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141883G>A | CA432536160 | VHL | c.36G>A (p.Glu12=) | ClinVar dbSNP |
3 | g.10141883G>C | CA16617780 | VHL | c.36G>C (p.Glu12Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.10141883G= | CA1345064940 | VHL | c.36G= (p.Glu12=) | |
3 | g.10141883G>T | CA351747140 | VHL | c.36G>T (p.Glu12Asp) | gnomAD v4 |
3 | g.10141884G>A | CA70042199 | VHL | c.37G>A (p.Val13Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141884G>C | CA351747145 | VHL | c.37G>C (p.Val13Leu) | ClinVar dbSNP |
3 | g.10141884G= | CA1345064946 | VHL | c.37G= (p.Val13=) | |
3 | g.10141884G>T | CA351747147 | VHL | c.37G>T (p.Val13Leu) | |
3 | g.10141885T>A | CA351747165 | VHL | c.38T>A (p.Val13Glu) | dbSNP |
3 | g.10141885T>C | CA351747150 | VHL | c.38T>C (p.Val13Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10141885T>G | CA351747163 | VHL | c.38T>G (p.Val13Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141885T= | CA1345064951 | VHL | c.38T= (p.Val13=) | |
3 | g.10141886A= | CA1345064960 | VHL | c.39A= (p.Val13=) | |
3 | g.10141886A>C | CA432536163 | VHL | c.39A>C (p.Val13=) | ClinVar dbSNP |
3 | g.10141886A>G | CA70042206 | VHL | c.39A>G (p.Val13=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141886A>T | CA432536164 | VHL | c.39A>T (p.Val13=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141886_10141887delinsAG | CA1345064963 | VHL | c.39_40delinsAG (p.Val13=) | |
3 | g.10141886_10141891delinsAGGCGC | CA1345064964 | VHL | c.39_44delinsAGGCGC (p.Val13=) | |
3 | g.10141891_10141905dup | CA541213518 | VHL | c.44_58dup (p.Gly19_Val20insAlaGluGluAlaGly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141887G>A | CA351747168 | VHL | c.40G>A (p.Gly14Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.10141887G>C | CA16611166 | VHL | c.40G>C (p.Gly14Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141887G= | CA1345064969 | VHL | c.40G= (p.Gly14=) | |
3 | g.10141887G>T | CA351747172 | VHL | c.40G>T (p.Gly14Cys) | dbSNP gnomAD v4 |
3 | g.10141888del | CA1345064968 | VHL | c.41del (p.Gly14AlafsTer?) | dbSNP |
3 | g.10141889_10141893del | CA896158074 | VHL | c.42_46del (p.Ala15GlyfsTer10) | ClinVar dbSNP |
3 | g.10141892_10141951del | CA2664399904 | VHL | c.45_104del (p.Glu16_Ala35del) | gnomAD v4 |
3 | g.10141888G>A | CA351747177 | VHL | c.41G>A (p.Gly14Asp) | ClinVar dbSNP |
3 | g.10141888G>C | CA351747180 | VHL | c.41G>C (p.Gly14Ala) | |
3 | g.10141888G= | CA1345064973 | VHL | c.41G= (p.Gly14=) | |
3 | g.10141888G>T | CA351747183 | VHL | c.41G>T (p.Gly14Val) | gnomAD v4 |
3 | g.10141888_10141889insA | CA645524626 | VHL | c.41_42insA (p.Ala15ArgfsTer12) | COSMIC |
3 | g.10141889C>A | CA432536167 | VHL | c.42C>A (p.Gly14=) | ClinVar gnomAD v4 |
3 | g.10141889C= | CA1345064979 | VHL | c.42C= (p.Gly14=) | |
3 | g.10141889C>G | CA432536168 | VHL | c.42C>G (p.Gly14=) | ClinVar dbSNP |
3 | g.10141889C>T | CA432536170 | VHL | c.42C>T (p.Gly14=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141889_10141890insA | CA432536171 | VHL | c.42_43insA (p.Ala15SerfsTer12) | |
3 | g.10141890G>A | CA16611060 | VHL | c.43G>A (p.Ala15Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.10141890G>C | CA351747190 | VHL | c.43G>C (p.Ala15Pro) | dbSNP |
3 | g.10141890G= | CA1345064980 | VHL | c.43G= (p.Ala15=) | |
3 | g.10141890G>T | CA351747186 | VHL | c.43G>T (p.Ala15Ser) | gnomAD v4 |
3 | g.10141891C>A | CA351747205 | VHL | c.44C>A (p.Ala15Glu) | gnomAD v4 |
3 | g.10141891C= | CA1345064983 | VHL | c.44C= (p.Ala15=) | |
3 | g.10141891C>G | CA351747196 | VHL | c.44C>G (p.Ala15Gly) | dbSNP |
3 | g.10141891C>T | CA351747200 | VHL | c.44C>T (p.Ala15Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141892G>A | CA432536174 | VHL | c.45G>A (p.Ala15=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141892G>C | CA432536176 | VHL | c.45G>C (p.Ala15=) | ClinVar dbSNP |
3 | g.10141892G= | CA1345064984 | VHL | c.45G= (p.Ala15=) | |
3 | g.10141892G>T | CA70042210 | VHL | c.45G>T (p.Ala15=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.10141893G>A | CA351747210 | VHL | c.46G>A (p.Glu16Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141893G>C | CA16611058 | VHL | c.46G>C (p.Glu16Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141893G= | CA1345064985 | VHL | c.46G= (p.Glu16=) | |
3 | g.10141893G>T | CA351747213 | VHL | c.46G>T (p.Glu16Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.10141894A= | CA1345064988 | VHL | c.47A= (p.Glu16=) | |
3 | g.10141894A>C | CA348482 | VHL | c.47A>C (p.Glu16Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10141894A>G | CA351747216 | VHL | c.47A>G (p.Glu16Gly) | dbSNP gnomAD v4 |
3 | g.10141894A>T | CA351747220 | VHL | c.47A>T (p.Glu16Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10141895G>A | CA16604416 | VHL | c.48G>A (p.Glu16=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141895G>C | CA351747226 | VHL | c.48G>C (p.Glu16Asp) | ClinVar dbSNP |
3 | g.10141895G= | CA1345064990 | VHL | c.48G= (p.Glu16=) | |
3 | g.10141895G>T | CA351747228 | VHL | c.48G>T (p.Glu16Asp) | |
3 | g.10141896G>A | CA351747236 | VHL | c.49G>A (p.Glu17Lys) | ClinVar dbSNP |
3 | g.10141896G>C | CA351747238 | VHL | c.49G>C (p.Glu17Gln) | |
3 | g.10141896G= | CA1345065000 | VHL | c.49G= (p.Glu17=) | |
3 | g.10141896G>T | CA70042221 | VHL | c.49G>T (p.Glu17Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.10141897A>C | CA351747248 | VHL | c.50A>C (p.Glu17Ala) | gnomAD v4 |
3 | g.10141897A>G | CA351747256 | VHL | c.50A>G (p.Glu17Gly) | dbSNP |
3 | g.10141897A>T | CA351747250 | VHL | c.50A>T (p.Glu17Val) | dbSNP |
3 | g.10141897_10141898delinsAG | CA1345065002 | VHL | c.50_51delinsAG (p.Glu17=) | |
3 | g.10141898G>A | CA432536187 | VHL | c.51G>A (p.Glu17=) | |
3 | g.10141898G>C | CA351747259 | VHL | c.51G>C (p.Glu17Asp) | |
3 | g.10141898G>T | CA351747262 | VHL | c.51G>T (p.Glu17Asp) | ClinVar dbSNP |
3 | g.10141899del | CA916081408 | VHL | c.52del (p.Ala18GlnfsTer?) | ClinVar dbSNP |
3 | g.10141899G>A | CA351747266 | VHL | c.52G>A (p.Ala18Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141899G>C | CA351747269 | VHL | c.52G>C (p.Ala18Pro) | |
3 | g.10141899G= | CA1345065007 | VHL | c.52G= (p.Ala18=) | |
3 | g.10141899G>T | CA351747273 | VHL | c.52G>T (p.Ala18Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.10141900C>A | CA351747277 | VHL | c.53C>A (p.Ala18Glu) | dbSNP gnomAD v4 |
3 | g.10141900C= | CA1345065012 | VHL | c.53C= (p.Ala18=) | |
3 | g.10141900C>G | CA351747279 | VHL | c.53C>G (p.Ala18Gly) | ClinVar dbSNP |
3 | g.10141900C>T | CA351747282 | VHL | c.53C>T (p.Ala18Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10141901A= | CA1345065015 | VHL | c.54A= (p.Ala18=) | |
3 | g.10141901A>C | CA432536195 | VHL | c.54A>C (p.Ala18=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141901A>G | CA432536191 | VHL | c.54A>G (p.Ala18=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141901A>T | CA432536193 | VHL | c.54A>T (p.Ala18=) | |
3 | g.10141902G>A | CA351747287 | VHL | c.55G>A (p.Gly19Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.10141902G>C | CA351747289 | VHL | c.55G>C (p.Gly19Arg) | ClinVar dbSNP |
3 | g.10141902G= | CA1345065019 | VHL | c.55G= (p.Gly19=) | |
3 | g.10141902G>T | CA351747292 | VHL | c.55G>T (p.Gly19Cys) | |
3 | g.10141903G>A | CA351747306 | VHL | c.56G>A (p.Gly19Asp) | dbSNP |
3 | g.10141903G>C | CA351747300 | VHL | c.56G>C (p.Gly19Ala) | |
3 | g.10141903G>T | CA351747296 | VHL | c.56G>T (p.Gly19Val) | ClinVar dbSNP gnomAD v4 |
3 | g.10141903_10141904delinsGC | CA1345065020 | VHL | c.56_57delinsGC (p.Gly19=) | |
3 | g.10141904del | CA658796232 | VHL | c.57del (p.Val20SerfsTer?) | ClinVar dbSNP gnomAD v4 |
3 | g.10141904C>A | CA432536198 | VHL | c.57C>A (p.Gly19=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141904C= | CA1345065023 | VHL | c.57C= (p.Gly19=) | |
3 | g.10141904C>G | CA432536199 | VHL | c.57C>G (p.Gly19=) | ClinVar dbSNP |
3 | g.10141904C>T | CA432536196 | VHL | c.57C>T (p.Gly19=) | ClinVar dbSNP gnomAD v2 COSMIC |
3 | g.10141905G>A | CA351747320 | VHL | c.58G>A (p.Val20Ile) | dbSNP gnomAD v4 |
3 | g.10141905G>C | CA351747312 | VHL | c.58G>C (p.Val20Leu) | ClinVar dbSNP |
3 | g.10141905G>T | CA351747318 | VHL | c.58G>T (p.Val20Phe) | dbSNP gnomAD v4 |
3 | g.10141906T>A | CA351747322 | VHL | c.59T>A (p.Val20Asp) | ClinVar dbSNP |
3 | g.10141906T>C | CA70042225 | VHL | c.59T>C (p.Val20Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10141906T>G | CA351747325 | VHL | c.59T>G (p.Val20Gly) | dbSNP |
3 | g.10141906T= | CA1345065036 | VHL | c.59T= (p.Val20=) | |
3 | g.10141907C>A | CA432536205 | VHL | c.60C>A (p.Val20=) | dbSNP gnomAD v4 |
3 | g.10141907C= | CA1345065043 | VHL | c.60C= (p.Val20=) | |
3 | g.10141907C>G | CA432536204 | VHL | c.60C>G (p.Val20=) | ClinVar dbSNP |
3 | g.10141907C>T | CA432536203 | VHL | c.60C>T (p.Val20=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141907dup | CA2838255658 | VHL | c.60dup (p.Glu21ArgfsTer6) | |
3 | g.10141908G>A | CA351747330 | VHL | c.61G>A (p.Glu21Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141908G>C | CA351747333 | VHL | c.61G>C (p.Glu21Gln) | ClinVar |
3 | g.10141908G>T | CA351747336 | VHL | c.61G>T (p.Glu21Ter) | |
3 | g.10141909A= | CA1345065051 | VHL | c.62A= (p.Glu21=) | |
3 | g.10141909A>C | CA16611259 | VHL | c.62A>C (p.Glu21Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.10141909A>G | CA351747347 | VHL | c.62A>G (p.Glu21Gly) | ClinVar |
3 | g.10141909A>T | CA351747354 | VHL | c.62A>T (p.Glu21Val) | ClinVar dbSNP |
3 | g.10141910A= | CA1345065055 | VHL | c.63A= (p.Glu21=) | |
3 | g.10141910A>C | CA351747357 | VHL | c.63A>C (p.Glu21Asp) | |
3 | g.10141910A>G | CA432536209 | VHL | c.63A>G (p.Glu21=) | ClinVar dbSNP |
3 | g.10141910A>T | CA351747358 | VHL | c.63A>T (p.Glu21Asp) | |
3 | g.10141911G>A | CA351747372 | VHL | c.64G>A (p.Glu22Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141911G>C | CA351747361 | VHL | c.64G>C (p.Glu22Gln) | |
3 | g.10141911G= | CA1345065057 | VHL | c.64G= (p.Glu22=) | |
3 | g.10141911G>T | CA351747367 | VHL | c.64G>T (p.Glu22Ter) | |
3 | g.10141915_10141959del | CA2516254345 | VHL | c.68_112del (p.Tyr23_Glu37del) | |
3 | g.10141912A>C | CA351747377 | VHL | c.65A>C (p.Glu22Ala) | |
3 | g.10141912A>G | CA351747380 | VHL | c.65A>G (p.Glu22Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.10141912A>T | CA351747381 | VHL | c.65A>T (p.Glu22Val) | ClinVar |
3 | g.10141913G>A | CA16604336 | VHL | c.66G>A (p.Glu22=) | ClinVar dbSNP gnomAD v4 |
3 | g.10141913G>C | CA70042233 | VHL | c.66G>C (p.Glu22Asp) | dbSNP |
3 | g.10141913G= | CA1345065062 | VHL | c.66G= (p.Glu22=) | |
3 | g.10141913G>T | CA351747383 | VHL | c.66G>T (p.Glu22Asp) | gnomAD v4 |
3 | g.10141914T>A | CA351747386 | VHL | c.67T>A (p.Tyr23Asn) | ClinVar dbSNP |
3 | g.10141914T>C | CA351747387 | VHL | c.67T>C (p.Tyr23His) | ClinVar dbSNP gnomAD v4 |
3 | g.10141914T>G | CA351747388 | VHL | c.67T>G (p.Tyr23Asp) | ClinVar dbSNP |
3 | g.10141914T= | CA1345065064 | VHL | c.67T= (p.Tyr23=) | |
3 | g.10141915A>C | CA351747390 | VHL | c.68A>C (p.Tyr23Ser) | dbSNP |
3 | g.10141915A>G | CA351747392 | VHL | c.68A>G (p.Tyr23Cys) | ClinVar dbSNP |
3 | g.10141915A>T | CA351747394 | VHL | c.68A>T (p.Tyr23Phe) | |
3 | g.10141916C>A | CA351747398 | VHL | c.69C>A (p.Tyr23Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.10141916C= | CA1345065069 | VHL | c.69C= (p.Tyr23=) | |
3 | g.10141916C>G | CA351747403 | VHL | c.69C>G (p.Tyr23Ter) | dbSNP |
3 | g.10141916C>T | CA432536214 | VHL | c.69C>T (p.Tyr23=) | ClinVar dbSNP gnomAD v4 |
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.10141917G>A | CA351747411 | VHL | c.70G>A (p.Gly24Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.10141917G>C | CA351747414 | VHL | c.70G>C (p.Gly24Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.10141917G= | CA1345065080 | VHL | c.70G= (p.Gly24=) | |
3 | g.10141917G>T | CA351747408 | VHL | c.70G>T (p.Gly24Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.10141918G>A | CA10582111 | VHL | c.71G>A (p.Gly24Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.10141918G>C | CA351747422 | VHL | c.71G>C (p.Gly24Ala) | dbSNP |
3 | g.10141918G= | CA1345065086 | VHL | c.71G= (p.Gly24=) | |
3 | g.10141918G>T | CA351747418 | VHL | c.71G>T (p.Gly24Val) | ClinVar dbSNP 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 |