O76031 · CLPX_HUMAN

  • Protein
    ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial
  • Gene
    CLPX
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

163350100150200250300350400450500550600
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs10239230882P>ATOPMed
gnomAD
rs20882418012P>HEnsembl
rs10239230882P>TTOPMed
gnomAD
rs20882417223S>GEnsembl
rs7563245763S>RExAC
gnomAD
rs7774747783S>TExAC
TOPMed
gnomAD
rs7529976434C>WExAC
TOPMed
gnomAD
rs12103381624C>YgnomAD
rs12825073545G>RgnomAD
rs12342865225G>VgnomAD
rs13071078196A>TTOPMed
gnomAD
rs20882412927C>GEnsembl
rs7517579238T>AVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV556462998T>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs13411313848T>STOPMed
gnomAD
rs7517579238T>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs7669006259C>*ExAC
TOPMed
gnomAD
rs13122045519C>GgnomAD
rs7669006259C>WExAC
TOPMed
gnomAD
rs20882411199C>YTOPMed
rs37669583710G>RESP
TOPMed
gnomAD
rs37669583710G>SESP
TOPMed
gnomAD
rs130287734310G>VgnomAD
rs77359553211A>SExAC
gnomAD
rs14527955511A>VESP
ExAC
gnomAD
rs77150228912A>SExAC
TOPMed
gnomAD
rs77150228912A>TExAC
TOPMed
gnomAD
rs77379111113A>GExAC
TOPMed
gnomAD
rs74537553113A>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs74537553113A>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs77379111113A>VExAC
TOPMed
gnomAD
rs15000790714V>ALikely benign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs15000790714V>DLikely benign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs74921961614V>FExAC
gnomAD
rs15000790714V>GLikely benign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs129239378615R>QTOPMed
gnomAD
rs75164029615R>WExAC
gnomAD
rs132304944616L>IVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs75889932716L>RVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs132304944616L>VVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs208823991117I>SEnsembl
rs122161994318T>ITOPMed
rs159595080018T>PEnsembl
rs76558214619S>AVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV002211945
rs150826031
19S>FLikely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs116462480521L>VgnomAD
rs147454342422A>VgnomAD
rs118841647823S>CgnomAD
rs141858288924A>VgnomAD
COSV10026942326R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs138340992430G>VgnomAD
rs75644567531G>VExAC
gnomAD
rs208814677532R>GTOPMed
rs14295477832R>HBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV002118059
rs142954778
32R>PBenign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel32R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs76593663334H>RExAC
TOPMed
gnomAD
rs92648777535M>LTOPMed
COSV10026956536S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs208814643937V>IEnsembl
rs117201973840R>GgnomAD
rs77738246240R>SEnsembl
rs76271809941L>FExAC
gnomAD
COSV100269503
COSV100269716
rs780719008
42G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
COSV10026949342G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100269503
COSV100269716
42G>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs76487535343T>IVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs76487535343T>KVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs139756553544F>YTOPMed
gnomAD
COSV5564715245E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs208814588146T>ATOPMed
RCV002143932
RCV003951254
rs146367761
46T>I
CLPX-related disorder (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs37262445447Q>EESP
ExAC
gnomAD
rs76038530147Q>HExAC
TOPMed
gnomAD
rs130631105147Q>RTOPMed
gnomAD
rs77541103648I>LExAC
TOPMed
gnomAD
rs122062972148I>MgnomAD
rs77541103648I>VExAC
TOPMed
gnomAD
rs74614207649L>RExAC
gnomAD
rs77216094949L>VExAC
TOPMed
gnomAD
rs214065053950Q>REnsembl
rs95120404151R>STOPMed
gnomAD
rs77892435752A>SExAC
gnomAD
rs208814512752A>VEnsembl
rs130058742053P>RTOPMed
gnomAD
rs208814506153P>STOPMed
gnomAD
COSV10026927854L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs77101756955R>GExAC
gnomAD
rs131109821858T>ATOPMed
gnomAD
rs75670907659E>KExAC
TOPMed
gnomAD
rs208814465260T>RTOPMed
rs142612269961P>QTOPMed
gnomAD
rs208814459561P>SEnsembl
rs116718327863Y>CTOPMed
gnomAD
rs147430875364F>LgnomAD
RCV001872144
RCV004039680
rs147317582
65A>SVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs14731758265A>TVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs119432997765A>VgnomAD
rs75795112966S>AExAC
gnomAD
rs75012740666S>LExAC
gnomAD
rs75795112966S>PExAC
gnomAD
rs76478342767K>TExAC
gnomAD
rs124902714768D>GTOPMed
gnomAD
rs75346728969G>EExAC
TOPMed
gnomAD
rs75346728969G>VExAC
TOPMed
gnomAD
rs131171827570I>MTOPMed
gnomAD
rs118928830271S>NTOPMed
rs125750386072K>ETOPMed
rs119364991873D>GgnomAD
rs142257872274G>DTOPMed
gnomAD
rs131645809576G>RgnomAD
rs76392742777D>NExAC
TOPMed
gnomAD
rs76071402477D>VExAC
gnomAD
rs37547050578G>AESP
ExAC
TOPMed
gnomAD
rs37547050578G>EESP
ExAC
TOPMed
gnomAD
rs208814310979N>HTOPMed
rs76737505179N>KExAC
gnomAD
rs208814305379N>STOPMed
rs37660846281K>TESP
ExAC
TOPMed
gnomAD
COSV5564452782S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs208812759783A>ETOPMed
rs75270255784S>GExAC
TOPMed
gnomAD
rs214064910284S>NEnsembl
COSV5564457785E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs208812746286G>ETOPMed
rs208812731588S>GTOPMed
rs76715487289K>EExAC
gnomAD
rs208812721889K>NTOPMed
gnomAD
rs130260520690K>TEnsembl
rs156698690392G>DEnsembl
COSV5564348993S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs75932726494G>RExAC
TOPMed
gnomAD
rs144122830196S>CTOPMed
gnomAD
COSV100269662
rs1441228301
96S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
COSV5564620698K>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1250337676100G>RVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs2088126587101N>STOPMed
RCV002146588
rs549129082
104R>CLikely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs369681637104R>HExAC
gnomAD
rs2140648997109G>SEnsembl
rs956977683110D>EVariant of uncertain significance (Ensembl)Ensembl
COSV99037905
rs769111203
110D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs2088126078111L>FEnsembl
rs2088126019112C>RTOPMed
TCGA novel114H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2088125896115V>ATOPMed
TCGA novel115V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2088125792119V>EgnomAD
rs1356202522119V>IgnomAD
rs1371261198120S>PTOPMed
rs1215001066121S>PgnomAD
rs1489319376122T>AVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1286766996122T>NgnomAD
rs2087920183123R>HVariant of uncertain significance (Ensembl)gnomAD
rs2087920233123R>STOPMed
COSV55644401126K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs867518178128E>KVariant of uncertain significance (Ensembl)Ensembl
rs2087919969129K>ETOPMed
gnomAD
rs1310628581131H>RgnomAD
rs1318438048135V>AgnomAD
TCGA novel135V>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs112193665139E>KEnsembl
rs777481622141D>GExAC
TOPMed
gnomAD
TCGA novel142S>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs2087919389142S>LEnsembl
rs2087919321143K>REnsembl
rs1360525952144K>ETOPMed
gnomAD
TCGA novel145S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2087919163145S>TTOPMed
gnomAD
rs2087919024146I>MTOPMed
rs1178772924146I>VgnomAD
TCGA novel147I>K
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1892475112147I>NEnsembl
rs1030780568147I>VVariant of uncertain significance (Ensembl)gnomAD
rs2087918773148K>REnsembl
rs1278939627150P>LTOPMed
gnomAD
rs780614650150P>TExAC
gnomAD
rs1229888241151E>GTOPMed
rs1595941553151E>QEnsembl
rs2087918240153A>STOPMed
TCGA novel154A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
RCV002113307
RCV004046283
rs149270152
155E>KLikely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel157V>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs779771028157V>IExAC
TOPMed
gnomAD
rs1306733001160A>TTOPMed
gnomAD
rs1239500689161F>LTOPMed
RCV002003903
rs1220437534
162Q>EVariant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
rs1566982533163Q>*Ensembl
rs2087917548163Q>HEnsembl
rs201236679163Q>P1000Genomes
ExAC
TOPMed
gnomAD
COSV100269510165P>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1362632298166P>STOPMed
rs765484364167P>AExAC
TOPMed
gnomAD
rs765484364167P>TExAC
TOPMed
gnomAD
rs1043589175168P>HTOPMed
rs1043589175168P>LTOPMed
COSV55646976168P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100269381169P>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2140630550169P>TEnsembl
rs1417505732171K>ETOPMed
rs1208018219172I>FgnomAD
TCGA novel175Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs761242378177D>EExAC
TOPMed
gnomAD
rs1265567909177D>NgnomAD
rs1566981770178K>REnsembl
rs1351138236181V>IgnomAD
rs754025732184S>PVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs2087883073185F>LTOPMed
rs1330583234186A>DgnomAD
rs1378154339188K>QgnomAD
rs1384387791190L>RgnomAD
rs376866919194V>MESP
ExAC
TOPMed
gnomAD
rs760009249196N>HExAC
gnomAD
rs774744211196N>SExAC
gnomAD
rs1419180290197H>RgnomAD
COSV55644784
rs2087882296
198Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
rs766677529200R>KExAC
TOPMed
gnomAD
COSV55644641200R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
RCV002032951
rs34481002
201I>LVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV100269333202Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2087882016202Y>HgnomAD
rs1376893004203N>SgnomAD
rs1196452618205I>TgnomAD
rs2087881877206P>LgnomAD
rs370213005210R>KESP
ExAC
TOPMed
gnomAD
rs2087881799212Q>KTOPMed
rs2087881753212Q>RgnomAD
rs768363863213A>TExAC
TOPMed
gnomAD
rs1423944915215V>ATOPMed
gnomAD
rs775033748215V>IExAC
TOPMed
gnomAD
COSV55643324216E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1163453717216E>KTOPMed
gnomAD
rs772018299219T>IVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV100269313220S>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1432102935222T>ITOPMed
gnomAD
rs1343826936223P>LgnomAD
rs867411725223P>SEnsembl
rs2087881317224R>GgnomAD
rs776275940224R>KExAC
gnomAD
rs776275940224R>TExAC
gnomAD
COSV55644342225E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1027364825226L>ITOPMed
gnomAD
rs1566981296228I>LEnsembl
rs749081927231R>PExAC
TOPMed
gnomAD
rs749081927231R>QExAC
TOPMed
gnomAD
rs770963766231R>WExAC
TOPMed
gnomAD
rs2087867438234E>QEnsembl
rs748410727236R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs781278027237F>CExAC
RCV001890390
rs181452957
238T>AVariant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs867070188242Q>KEnsembl
rs2087820120242Q>RgnomAD
rs1237181516246I>VgnomAD
rs2140619505247S>NEnsembl
rs964133250248P>STOPMed
rs1176325125249H>PgnomAD
rs768980175249H>QExAC
gnomAD
rs1176325125249H>RgnomAD
rs780226878250G>DExAC
gnomAD
RCV002132181
RCV003913724
rs117517219
250G>S
CLPX-related disorder (ClinVar)
Benign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1451518396251N>DgnomAD
rs2087819737253L>FEnsembl
rs1287890397253L>SgnomAD
COSV55645037254G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2087819669256S>LEnsembl
rs138152101257M>LESP
ExAC
TOPMed
gnomAD
rs138152101257M>VESP
ExAC
TOPMed
gnomAD
rs750953705258Q>HExAC
gnomAD
rs953664621258Q>REnsembl
rs779188649259Q>EExAC
TOPMed
gnomAD
rs1238184819259Q>RgnomAD
rs757619116261V>GExAC
gnomAD
COSV100269419262N>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs374529359264Q>HESP
ExAC
TOPMed
gnomAD
rs767058816265I>TExAC
gnomAD
rs1274908983266P>STOPMed
gnomAD
rs1274908983266P>TTOPMed
gnomAD
rs2087819190267Q>PTOPMed
gnomAD
rs2140619359269K>EEnsembl
rs759281371270R>*ExAC
TOPMed
gnomAD
rs145543919270R>QESP
ExAC
TOPMed
gnomAD
rs1595938009272G>VEnsembl
rs2087819012274V>EEnsembl
rs1187839679274V>ITOPMed
gnomAD
rs765943238279H>PExAC
TOPMed
gnomAD
rs765943238279H>RExAC
TOPMed
gnomAD
COSV55646913280D>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV55645997281D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs762932443282I>VExAC
gnomAD
rs1177413725283K>QTOPMed
gnomAD
rs1406694374284L>VTOPMed
rs773289504286K>RExAC
gnomAD
TCGA novel287S>K
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1416728216288N>HTOPMed
rs765333543290L>FExAC
gnomAD
COSV100269613292L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs976241733294P>AEnsembl
rs2087818378297S>LTOPMed
gnomAD
VAR_081001
RCV000656530
rs1555412542
298G>D
EPP2; results in decreased ATP hydrolysis; cells with the mutant protein show increased ALA levels and accumulation of the heme biosynthesis intermediate protoporphyrin IX (UniProt)
Protoporphyria, erythropoietic, 2 (ClinVar)
Pathogenic (UniProt)UniProt
ClinVar
Ensembl
dbSNP
rs1481034366300T>NgnomAD
COSV100269432301L>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs763973912301L>VExAC
gnomAD
rs1191578287303A>TgnomAD
rs2087809125304Q>ETOPMed
rs2087809067305T>IEnsembl
rs1261530720306L>VgnomAD
rs1234418248311D>NTOPMed
gnomAD
rs1209610652312V>IgnomAD
rs1310241318315A>TgnomAD
rs745930831316I>LExAC
TOPMed
gnomAD
rs745930831316I>VExAC
TOPMed
gnomAD
rs1251447938317C>YTOPMed
gnomAD
rs376469682319C>RESP
ExAC
TOPMed
gnomAD
rs767491870322L>VEnsembl
COSV100269285323T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV55645261324Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs894184375324Q>RTOPMed
rs756514374332I>TExAC
TOPMed
gnomAD
rs140343605332I>VESP
ExAC
TOPMed
gnomAD
TCGA novel334S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2087808072336I>MgnomAD
COSV100269343337A>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2087808026337A>VTOPMed
rs373159447342D>EESP
TOPMed
gnomAD
rs779841328343A>GExAC
gnomAD
rs151195584344N>KVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs201645826345Y>CEnsembl
rs764875363346N>SExAC
gnomAD
rs1262457728347V>LTOPMed
gnomAD
COSV100269331347V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV55643741348E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1181526160348E>VTOPMed
gnomAD
COSV100269396349K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2087807337350A>TgnomAD
TCGA novel351Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1204055522352Q>HVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs536717501352Q>R1000Genomes
ExAC
TOPMed
gnomAD
rs1037038295358D>NTOPMed
COSV55646747359E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV55647221363I>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1477049807363I>TTOPMed
gnomAD
COSV55643316364G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1456470053364G>VgnomAD
rs941332167366V>ATOPMed
rs1415811686366V>LTOPMed
gnomAD
rs1415811686366V>MTOPMed
gnomAD
rs867893552367P>SEnsembl
TCGA novel368G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1367476844368G>VgnomAD
rs2087796328369I>VEnsembl
COSV55646731370H>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel370H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1163654766371Q>PgnomAD
COSV100269245371Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs759705385373R>WVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs1019314405376G>SEnsembl
rs2087795931378E>KEnsembl
COSV55644251380V>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2087795795380V>IgnomAD
COSV100269327382Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs757400794384-385LL>*ExAC
rs2087783343391T>ATOPMed
rs1255743061393V>IgnomAD
rs1228126721394N>KTOPMed
gnomAD
rs750476540394N>SExAC
TOPMed
gnomAD
rs2087783197395V>ATOPMed
rs2087783149396P>AEnsembl
rs2087783113396P>LEnsembl
COSV55643359396P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV55643619
COSV55645334
397E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs765256546399N>SExAC
gnomAD
rs762356000400S>CExAC
gnomAD
TCGA novel400S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1399479428401R>*gnomAD
rs747996124401R>QEnsembl
rs1595936830404R>CTOPMed
TCGA novel
rs1595936825
404R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
Ensembl
COSV55646937405G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1320556840407T>AgnomAD
rs2087782594409Q>KgnomAD
rs1027160427410V>AEnsembl
rs149761898410V>I1000Genomes
ExAC
TOPMed
gnomAD
rs775764773411D>NExAC
gnomAD
rs1429901372412T>KgnomAD
rs1429901372412T>RgnomAD
rs770581618413T>AVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs112493401413T>IExAC
TOPMed
gnomAD
rs112493401413T>KExAC
TOPMed
gnomAD
rs1193507633414N>STOPMed
gnomAD
rs769306600415I>VExAC
gnomAD
rs1255974750416L>MgnomAD
rs781102222417F>LExAC
gnomAD
rs1306898547418V>LTOPMed
gnomAD
rs2087781689419A>TTOPMed
rs2087781633419A>VEnsembl
rs2140614697421G>CEnsembl
rs2087781531421G>DTOPMed
gnomAD
rs754958321423F>VExAC
gnomAD
rs147893822424N>IVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147893822424N>SVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2087781331425G>DTOPMed
gnomAD
rs2087781219427D>NTOPMed
rs1018336093428R>GEnsembl
TCGA novel428R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1465519407428R>TTOPMed
rs2087781003430I>SEnsembl
rs1324061422431S>NTOPMed
gnomAD
rs2087780829432R>GgnomAD
rs144638772437K>EESP
ExAC
gnomAD
TCGA novel439L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1165114424442G>ATOPMed
gnomAD
rs1165114424442G>ETOPMed
gnomAD
rs778028615442G>RExAC
gnomAD
rs1165114424442G>VTOPMed
gnomAD
rs112513983443T>AEnsembl
rs1444831101443T>ITOPMed
gnomAD
rs1386298411444P>RgnomAD
TCGA novel445S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs753157584445S>TExAC
gnomAD
rs2087769964446N>DTOPMed
rs2087769906446N>TEnsembl
rs551962246448G>E1000Genomes
ExAC
gnomAD
rs1205778727448G>RgnomAD
rs2087769763449K>RTOPMed
rs2087769667453A>VTOPMed
rs764840084454A>VVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs2140613339456A>PEnsembl
COSV55644535457A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1459129193458D>ETOPMed
gnomAD
rs1032925425458D>GTOPMed
gnomAD
rs2087769359458D>NEnsembl
rs199752289459L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
TOPMed
dbSNP
rs776072567460A>DExAC
TOPMed
gnomAD
rs776072567460A>GExAC
TOPMed
gnomAD
rs979498280460A>TTOPMed
rs776072567460A>VExAC
TOPMed
gnomAD
rs1221868052461N>DgnomAD
rs1375186907462R>*TOPMed
gnomAD
rs140689028462R>QESP
ExAC
TOPMed
gnomAD
rs775288540466S>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs775288540466S>WVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1221472214467N>DTOPMed
gnomAD
rs2087768764468T>IEnsembl
rs2140613209469H>REnsembl
rs2087768563470Q>ETOPMed
TCGA novel472I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1156407418475K>RVariant of uncertain significance (Ensembl)gnomAD
rs2087768115476D>VTOPMed
gnomAD
rs771233943477R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs751694766477R>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs751694766477R>QVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV55643686
rs771233943
477R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs777939567480R>CExAC
COSV55644445
rs756151231
480R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs2087767713481H>RTOPMed
rs2087767586484A>TTOPMed
rs1285598674485R>IgnomAD
rs867709126486D>HEnsembl
rs781537590487L>PExAC
gnomAD
VAR_048826
RCV002153123
rs35754835
488I>TVariant of uncertain significance (Ensembl)UniProt
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2087767121490F>VEnsembl
rs766752536492M>LExAC
TOPMed
gnomAD
COSV100269430494P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs753494621496F>LExAC
gnomAD
COSV100269558498G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1286789415500L>VgnomAD
rs2087766829501P>SEnsembl
rs2087766796504V>ATOPMed
rs1432421136505P>SgnomAD
rs141503742507H>RESP
ExAC
TOPMed
gnomAD
TCGA novel507H>R
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs2087766605510D>GgnomAD
rs760093032510D>HExAC
gnomAD
rs930316852511E>KTOPMed
gnomAD
rs930316852511E>QTOPMed
gnomAD
rs775118209512K>RExAC
gnomAD
rs775118209512K>TExAC
gnomAD
rs1486957369521P>STOPMed
gnomAD
rs2087766206522R>*gnomAD
rs148226354522R>QESP
ExAC
TOPMed
gnomAD
rs2087766122523N>STOPMed
COSV55644794524A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1209156814525V>LgnomAD
rs2087766021527P>HTOPMed
rs2087766021527P>RTOPMed
rs774236257527P>TExAC
gnomAD
TCGA novel530Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2087765950530Q>RTOPMed
rs770859993531A>TVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1223989293532L>VgnomAD
rs111784082534S>CExAC
gnomAD
rs111784082534S>GExAC
gnomAD
rs1231575545536D>GEnsembl
rs1293210836536D>YEnsembl
rs2087765699537K>EEnsembl
TCGA novel538C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs774432272539E>KVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs1405406030540L>PgnomAD
rs2087752362542V>ITOPMed
rs766490296545D>NExAC
gnomAD
rs2087752237548K>NEnsembl
rs1454040831548K>TgnomAD
rs774210802549A>TEnsembl
rs2087752135550I>VEnsembl
rs1396408056551A>VgnomAD
TCGA novel552R>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2140611077554A>SEnsembl
rs1302386824554A>VTOPMed
rs1463603693556E>AgnomAD
COSV55646258
rs773190880
557R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
COSV55644217
rs769874820
557R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1157207613561A>GgnomAD
rs748425525561A>TExAC
rs768787879562R>*ExAC
TOPMed
gnomAD
rs2087751283563G>ATOPMed
rs747160238563G>CExAC
TOPMed
gnomAD
rs747160238563G>SExAC
TOPMed
gnomAD
rs770495927565R>QgnomAD
rs200158367565R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs755669762567I>MExAC
TOPMed
gnomAD
rs779362113567I>VExAC
TOPMed
gnomAD
rs752405975568M>VExAC
gnomAD
rs2087735540573L>QTOPMed
TCGA novel575P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1330422852576M>TgnomAD
rs2087735242576M>VEnsembl
rs2087735143578E>KEnsembl
rs2140609216579V>AEnsembl
rs1347416742580P>HgnomAD
rs1381828991583D>AgnomAD
rs2087734900583D>HEnsembl
rs929360264584I>LEnsembl
rs746392430585V>IExAC
TOPMed
gnomAD
rs749678591586C>RExAC
TOPMed
gnomAD
rs2087734507586C>YTOPMed
rs780883206587V>AExAC
gnomAD
rs751082671588E>DExAC
TOPMed
gnomAD
rs568339243588E>VBenign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs2087734313589V>IgnomAD
rs758353237591K>EExAC
TOPMed
gnomAD
rs758353237591K>QExAC
TOPMed
gnomAD
rs1228243906591K>TTOPMed
gnomAD
rs750379547592E>GExAC
TOPMed
gnomAD
rs1318831375592E>KgnomAD
COSV100269560
rs1318831375
592E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
gnomAD
rs1207264257593V>AgnomAD
rs1207264257593V>EgnomAD
rs960414586594V>ATOPMed
gnomAD
rs960414586594V>ETOPMed
gnomAD
rs1465582116594V>IgnomAD
rs1222175683595E>KgnomAD
rs1227046747596G>EgnomAD
rs1275486273596G>RgnomAD
rs753628258597K>EExAC
gnomAD
rs1382587479598K>EgnomAD
rs2140609050598K>REnsembl
rs2087733467600P>AEnsembl
rs1006264720601G>AgnomAD
rs1006264720601G>EgnomAD
TCGA novel602Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs764272247603I>NExAC
TOPMed
gnomAD
rs775502558604R>GExAC
TOPMed
gnomAD
rs2087733196604R>QEnsembl
rs775502558604R>WExAC
TOPMed
gnomAD
rs16948530605A>PESP
ExAC
TOPMed
gnomAD
rs16948530605A>TESP
ExAC
TOPMed
gnomAD
rs2140606305606P>LEnsembl
rs1446757649606P>STOPMed
gnomAD
rs2087711429607T>IgnomAD
COSV100269425609E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs267604288610S>FEnsembl
COSV55643068611S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs763903595611S>PExAC
gnomAD
rs760825285612E>KExAC
rs142389897614E>GVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs2087711174615Y>CEnsembl
rs767790853618G>AExAC
gnomAD
rs1358981997620E>GgnomAD
rs2140606225620E>KEnsembl
COSV55645876621E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs2087711021622E>GEnsembl
rs1269688101623G>EVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1595934791623G>REnsembl
rs1208836573625P>LgnomAD
rs1247916303625P>SgnomAD
rs759645120626R>CExAC
TOPMed
gnomAD
rs774340997626R>HExAC
gnomAD
rs774340997626R>LExAC
gnomAD
rs1193015059627Q>HTOPMed
gnomAD
rs771435902629D>EExAC
gnomAD
rs1290358075629D>NEnsembl
COSV100269713630A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs763400677631A>TExAC
gnomAD
rs770287552632N>KExAC
gnomAD
rs2140606129633S>REnsembl
rs368753744633S>TESP
ExAC
TOPMed
gnomAD
COSV55645731634*>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1363338754634*>KTOPMed
gnomAD
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