Q9NVC3 · S38A7_HUMAN

  • Protein
    Sodium-coupled neutral amino acid transporter 7
  • Gene
    SLC38A7
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

146250100150200250300350400450200400

Filter Consequence

Filter Provenance

GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV547044723Q>*cosmic curated
rs11564426754V>DgnomAD
rs7593500575S>NExAC
gnomAD
rs7507385907N>SExAC
COSV54703197
rs370515708
8N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000879321
rs151075190
10Y>CBenign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs124598267812E>DTOPMed
gnomAD
rs76874076812E>KExAC
TOPMed
gnomAD
COSV5470244813W>Ccosmic curated
rs120829949414D>NTOPMed
gnomAD
rs4294316S>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV104586629
rs770200248
17T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs86721577519A>DgnomAD
rs86721577519A>VgnomAD
rs1155867920G>RExAC
TOPMed
gnomAD
rs77718293622R>QExAC
TOPMed
gnomAD
COSV54704597
rs377272316
22R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs138890518123A>TTOPMed
gnomAD
rs74811238624R>GExAC
TOPMed
gnomAD
rs76367195024R>PExAC
TOPMed
gnomAD
rs76367195024R>QExAC
TOPMed
gnomAD
rs74811238624R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs53538265727Q>K1000Genomes
ExAC
TOPMed
gnomAD
rs204435760928S>CEnsembl
COSV5470314229P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs204435740229P>SEnsembl
rs118770887430C>FgnomAD
rs118770887430C>SgnomAD
rs76614582430C>WExAC
gnomAD
rs124405328931V>MgnomAD
rs148667955433T>PTOPMed
gnomAD
rs121969588334A>DTOPMed
gnomAD
COSV5470479734A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV5470479734A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs121969588334A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs75745166135P>AExAC
TOPMed
gnomAD
COSV9954397235P>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs75173813836K>RExAC
gnomAD
rs204435604338E>DgnomAD
TCGA novel
rs2152083458
38E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
Ensembl
rs159767958139W>GEnsembl
COSV9954378140E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs159767956640E>KEnsembl
rs134067948945G>DTOPMed
gnomAD
rs76409314445G>SExAC
gnomAD
TCGA novel
COSV105872132
rs1340679489
45G>V
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
cosmic curated
TOPMed
gnomAD
VAR_039015
rs7193572
46L>PUniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs204435549248R>KTOPMed
rs77604585450T>IExAC
gnomAD
rs143252879651T>STOPMed
COSV54705250
rs1290248302
52S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs143387340553T>PTOPMed
gnomAD
COSV9954363055G>Vcosmic curated
COSV9954377956A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs142640371557I>FgnomAD
rs137554562758F>CTOPMed
gnomAD
rs137554562758F>YTOPMed
gnomAD
rs37326727560V>IVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
COSV54702735
rs372554338
61V>Icosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs118965463662N>IgnomAD
rs118965463662N>SgnomAD
rs77176931663A>TExAC
TOPMed
gnomAD
COSV106358664
rs1224800278
63A>Vcosmic curated
TOPMed
gnomAD
COSV5470531764C>*cosmic curated
rs77904041164C>FExAC
TOPMed
gnomAD
rs77904041164C>YExAC
TOPMed
gnomAD
rs94226081365L>RTOPMed
gnomAD
TCGA novel66G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs77971744366G>DExAC
TOPMed
gnomAD
rs204435356367A>TEnsembl
COSV5470259668G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs126111709471N>STOPMed
gnomAD
rs91075611573P>ATOPMed
gnomAD
rs91075611573P>STOPMed
gnomAD
rs204435294075A>VTOPMed
rs146245245877S>GgnomAD
VAR_039016
COSV54705431
rs7191331
78T>IUniProt
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs37650866479A>VESP
ExAC
TOPMed
gnomAD
COSV9954383080G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1426134100
TCGA novel
81G>A
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
TOPMed
gnomAD
NCI-TCGA
rs76109878981G>CExAC
TOPMed
gnomAD
rs142613410081G>DTOPMed
gnomAD
rs36903892282V>LESP
ExAC
TOPMed
gnomAD
rs36903892282V>MESP
ExAC
TOPMed
gnomAD
rs204435172683A>TTOPMed
rs37494049883A>VESP
TOPMed
gnomAD
rs138274818585G>STOPMed
gnomAD
rs125120832385G>VTOPMed
gnomAD
rs37708024187A>SESP
ExAC
TOPMed
gnomAD
COSV54702648
rs377080241
87A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs76150367087A>VExAC
TOPMed
gnomAD
rs20162113390M>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs76821313690M>VExAC
TOPMed
gnomAD
rs204432660191G>CTOPMed
COSV107266756
rs768006481
91G>Dcosmic curated
ExAC
TOPMed
gnomAD
rs76800648191G>VExAC
TOPMed
gnomAD
rs88913924994V>ATOPMed
rs75132178194V>IExAC
gnomAD
rs76377013595F>SExAC
gnomAD
rs76377013595F>YExAC
gnomAD
COSV54704418
rs775089580
96I>Lcosmic curated
ExAC
TOPMed
gnomAD
rs77508958096I>VExAC
TOPMed
gnomAD
rs204432593298S>NEnsembl
rs1405597803101V>IgnomAD
COSV54704575103L>Pcosmic curated
rs1347518724104A>SgnomAD
rs2044325721105Y>CTOPMed
rs759474510106C>YExAC
gnomAD
rs1429704389108Q>*gnomAD
COSV54702950108Q>Hcosmic curated
rs1223944868108Q>REnsembl
rs1397571863109A>PTOPMed
gnomAD
rs2044325380110S>GEnsembl
COSV54702152112E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV106358696112E>Kcosmic curated
rs1170017956113R>KTOPMed
gnomAD
rs901998698115Y>NEnsembl
COSV99543636118V>Acosmic curated
rs1256933057119V>ATOPMed
gnomAD
rs1464912606119V>IgnomAD
rs770772701120W>*ExAC
TOPMed
gnomAD
rs776496716120W>RExAC
gnomAD
rs1480466904122V>LgnomAD
rs1480466904122V>MgnomAD
rs142979677123C>SESP
ExAC
TOPMed
gnomAD
rs1182642930126L>PTOPMed
gnomAD
COSV54704943127T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs2044324454128G>REnsembl
rs1475924193128G>VTOPMed
gnomAD
rs2044324300129V>EEnsembl
rs1270443489130L>VgnomAD
rs749426989131C>GExAC
gnomAD
rs749426989131C>RExAC
gnomAD
rs1597677349133V>LEnsembl
rs1188811417134A>GTOPMed
gnomAD
COSV54703941
rs1273376109
134A>Tcosmic curated
gnomAD
COSV54702995134A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs199648800135I>V1000Genomes
ExAC
TOPMed
gnomAD
rs181440783136A>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs566409558136A>V1000Genomes
ExAC
gnomAD
rs2044323632137V>IEnsembl
rs376952907138Y>H1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1286534719139T>IgnomAD
COSV54705059139T>Pcosmic curated
rs1409685571140F>VgnomAD
COSV54703579141G>Acosmic curated
rs764817539141G>DExAC
gnomAD
rs1336852825141G>RgnomAD
rs1054128496144I>VEnsembl
rs776619677145A>TExAC
gnomAD
rs141565697149I>FESP
ExAC
TOPMed
gnomAD
rs1369121417149I>TTOPMed
gnomAD
rs141565697149I>VESP
ExAC
TOPMed
gnomAD
rs372646219150I>MESP
ExAC
gnomAD
rs771694958150I>TExAC
TOPMed
gnomAD
rs1256704901151G>STOPMed
rs769982269152D>GExAC
gnomAD
rs1203918459152D>NTOPMed
gnomAD
rs2044322011153Q>KEnsembl
rs1284103426154Q>ETOPMed
gnomAD
rs370178678154Q>HTOPMed
gnomAD
rs2044321904154Q>LEnsembl
rs2044321629156K>NTOPMed
rs745911792156K>RExAC
gnomAD
rs1242332362157I>LTOPMed
gnomAD
rs1242332362157I>VTOPMed
gnomAD
rs770118025158I>TExAC
gnomAD
rs375792107158I>VESP
ExAC
gnomAD
rs1460690450159A>DTOPMed
COSV54703032159A>Tcosmic curated
TCGA novel159A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2044317293160V>LEnsembl
rs2044317186161M>ITOPMed
rs148206922162A>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV104985581
rs148206922
162A>Vcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV106090073164E>*cosmic curated
rs1016749948165P>LTOPMed
gnomAD
rs1364878908166E>*TOPMed
gnomAD
rs950891851166E>AEnsembl
rs1364878908166E>QTOPMed
gnomAD
rs199742400167G>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV108053020167G>Vcosmic curated
COSV54703095168A>Dcosmic curated
rs778680314168A>GExAC
TOPMed
gnomAD
rs778680314168A>VExAC
TOPMed
gnomAD
rs1245909822169S>CTOPMed
gnomAD
rs1245909822169S>GTOPMed
gnomAD
COSV54703170
rs370454103
170G>Scosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV99543663
rs1219449640
171P>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV99543947171P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1490226361172W>*gnomAD
rs1017817000172W>GEnsembl
rs1293112865173Y>CgnomAD
rs779550123174T>IExAC
gnomAD
rs143031096175D>EESP
ExAC
TOPMed
gnomAD
rs750440739176R>CExAC
TOPMed
gnomAD
rs143368156176R>HESP
ExAC
TOPMed
gnomAD
rs1271636330177K>RVariant of uncertain significance (Ensembl)gnomAD
COSV54704503177K>Tcosmic curated
rs763941676179T>IExAC
TOPMed
gnomAD
rs763941676179T>NExAC
TOPMed
gnomAD
rs763941676179T>SExAC
TOPMed
gnomAD
COSV105872133
rs2044314821
184A>Vcosmic curated
TOPMed
rs1369947402186L>VTOPMed
gnomAD
rs2044314665188I>TEnsembl
rs1189745100190P>SgnomAD
COSV108053041191L>Fcosmic curated
rs1371280521192S>ATOPMed
rs2431189193I>TEnsembl
COSV54703210
rs2044313877
195R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs772440340195R>KExAC
gnomAD
COSV54704332196E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54702821196E>Kcosmic curated
rs748643962197I>TExAC
gnomAD
rs1232865908198G>SgnomAD
rs2152081494199F>VEnsembl
COSV104586635201K>Ncosmic curated
rs779250068201K>QExAC
gnomAD
COSV99543871202Y>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1309671050204S>NgnomAD
rs769073245206L>PExAC
gnomAD
COSV105872122207S>Gcosmic curated
COSV54703190207S>Rcosmic curated
rs775170555208V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs1597675091209V>AEnsembl
rs150179301209V>LESP
ExAC
TOPMed
gnomAD
rs150179301209V>MESP
ExAC
TOPMed
gnomAD
rs2044292503210G>SEnsembl
rs756734223211T>AExAC
TOPMed
gnomAD
rs2044292260212W>CEnsembl
rs1160423533212W>GTOPMed
gnomAD
rs777851668214V>IExAC
TOPMed
gnomAD
rs758310485217I>VExAC
TOPMed
gnomAD
COSV54702492
rs765079849
218V>Icosmic curated
ExAC
TOPMed
gnomAD
rs567627870219I>T1000Genomes
ExAC
TOPMed
gnomAD
rs1250906802219I>VTOPMed
rs1366466608220I>TEnsembl
rs1161102659220I>VTOPMed
gnomAD
rs1457638394221K>EEnsembl
rs767548877223I>VExAC
TOPMed
gnomAD
rs774876367
COSV54702767
224W>*ExAC
TOPMed
gnomAD
cosmic curated
rs774876367224W>LExAC
TOPMed
gnomAD
COSV99543638
COSV99543863
228E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99543638
rs764560401
228E>Qcosmic curated
ExAC
gnomAD
TCGA novel230T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1383315206230T>STOPMed
gnomAD
COSV54702467231P>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs377434637231P>LESP
ExAC
gnomAD
rs150999581232G>AESP
ExAC
TOPMed
gnomAD
rs2044289993233N>DTOPMed
rs1306421127233N>SEnsembl
rs2044289687234I>TEnsembl
rs549071044234I>V1000Genomes
ExAC
TOPMed
gnomAD
rs1567472691237R>SEnsembl
COSV54704966
rs765578855
238P>Lcosmic curated
ExAC
TOPMed
gnomAD
COSV54703715
rs753144762
238P>Scosmic curated
ExAC
gnomAD
COSV99543875238P>Tcosmic curated
rs1470476221239A>STOPMed
rs2044265459240S>AEnsembl
COSV54705020
rs1170765398
COSV104985573
240S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV54705020240S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs770597846242M>IExAC
gnomAD
rs2044265297242M>TEnsembl
rs776188670242M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs760358313243A>SExAC
gnomAD
COSV54704319247A>Dcosmic curated
COSV106358647
rs960126809
248M>Icosmic curated
TOPMed
gnomAD
rs2044265085248M>VgnomAD
TCGA novel250T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1193856020251I>TgnomAD
COSV54703264
rs1338552183
252C>Ycosmic curated
gnomAD
rs1229916918254G>ATOPMed
gnomAD
rs748856352254G>RExAC
TOPMed
gnomAD
rs1229916918254G>VTOPMed
gnomAD
COSV99544016256Q>Rcosmic curated
COSV99543873258H>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1238994228259V>ITOPMed
gnomAD
rs759868524260S>IExAC
TOPMed
gnomAD
rs2044259704261S>GTOPMed
rs1331310562261S>NTOPMed
gnomAD
COSV54702335
rs1567472483
263P>Lcosmic curated
gnomAD
rs866050493263P>SEnsembl
COSV54702410
rs754254080
264V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel265F>missing
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV54702866266N>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs766616017268M>IExAC
rs2152078786268M>T1000Genomes
rs1161181691268M>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
COSV108053028
rs1335724671
269Q>Hcosmic curated
TOPMed
gnomAD
rs2044259179269Q>RgnomAD
rs1469847658271P>TgnomAD
rs1304812672272E>DTOPMed
rs760411644273V>LExAC
TOPMed
gnomAD
rs374759417276W>LESP
ExAC
TOPMed
gnomAD
COSV54702294277G>Dcosmic curated
TCGA novel278G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1442587795279V>AgnomAD
rs1244026459281T>STOPMed
gnomAD
rs1242731532282A>VgnomAD
TCGA novel283A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel283A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs140010248284M>IESP
ExAC
TOPMed
gnomAD
rs1204568981284M>VgnomAD
rs768658865285V>DExAC
gnomAD
rs1282247319285V>IgnomAD
rs960550222286I>VTOPMed
COSV104985582
rs1352016577
287A>Vcosmic curated
gnomAD
rs548966038288L>F1000Genomes
ExAC
gnomAD
rs779902963288L>PExAC
gnomAD
rs868782902289A>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
COSV99543622290V>Dcosmic curated
rs1324148550290V>GgnomAD
rs1597672452292M>KEnsembl
rs1452958448292M>LgnomAD
rs1597672452292M>REnsembl
COSV99543618292M>Tcosmic curated
rs1452958448292M>VgnomAD
rs1341670520294T>AgnomAD
rs1315595934294T>IgnomAD
COSV54705005294T>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs756936849296I>MExAC
gnomAD
rs767951321296I>VExAC
TOPMed
gnomAD
COSV54703953297C>Scosmic curated
rs865964792298G>CEnsembl
rs751114657299F>YExAC
gnomAD
rs570338430303G>E1000Genomes
gnomAD
rs1567470553303G>REnsembl
rs370888986304A>PEnsembl
rs1220906076305A>TgnomAD
COSV99543993
rs763717219
305A>Vcosmic curated
ExAC
gnomAD
rs1447322792307D>HTOPMed
gnomAD
rs2044173609307D>VEnsembl
COSV54704585308P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104985583308P>Lcosmic curated
rs775471836308P>TExAC
TOPMed
gnomAD
COSV54702140
rs1469310878
310V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs1359848664311L>PgnomAD
rs2044173005312L>PTOPMed
COSV54704301313S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs762321865314Y>CTOPMed
gnomAD
rs984810699314Y>HEnsembl
rs1407962880315P>SgnomAD
rs1407962880315P>TgnomAD
rs998526954316S>LTOPMed
gnomAD
rs1239597743318D>GTOPMed
gnomAD
rs1185515734319M>ITOPMed
gnomAD
rs369915497319M>TVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs759409044319M>VExAC
TOPMed
gnomAD
COSV108053031320A>Scosmic curated
rs1256079803320A>TgnomAD
rs2044172329320A>VgnomAD
rs749703806321V>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs749703806321V>MVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV99543529322A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs372860415323V>FESP
ExAC
TOPMed
gnomAD
rs372860415323V>IESP
ExAC
TOPMed
gnomAD
rs894280151325R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
COSV107266766325R>Lcosmic curated
rs749319510325R>QExAC
TOPMed
gnomAD
rs570530439326A>DExAC
TOPMed
gnomAD
rs570530439326A>GExAC
TOPMed
gnomAD
rs2044171629327F>CTOPMed
rs1379908114327F>LgnomAD
rs1304643659328I>MgnomAD
rs1451799989330L>PgnomAD
rs938062870332V>LgnomAD
rs938062870332V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs1421857883333L>FgnomAD
rs1383817266333L>PTOPMed
gnomAD
rs1597666705334T>PEnsembl
rs1597666688336Y>SEnsembl
rs1443646992337P>LgnomAD
rs2044170831338I>LgnomAD
rs2044170564340H>RTOPMed
gnomAD
rs781708373340H>YExAC
gnomAD
rs2044170460341F>IgnomAD
rs745888167342C>YEnsembl
TCGA novel344R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1217285818344R>PTOPMed
gnomAD
rs1217285818344R>QTOPMed
gnomAD
rs1260021496344R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs778140612345A>EExAC
TOPMed
gnomAD
rs1597665526345A>TEnsembl
COSV107266759
rs778140612
345A>Vcosmic curated
ExAC
TOPMed
gnomAD
rs1198107510346V>AgnomAD
rs752304372349G>SExAC
gnomAD
rs144278540350L>MESP
ExAC
TOPMed
gnomAD
TCGA novel351W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1290859902352L>VTOPMed
COSV54702962
rs753809055
353R>Ccosmic curated
ExAC
gnomAD
rs753809055353R>GExAC
gnomAD
rs148567685353R>HVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs1414170691
COSV107266639
355Q>HTOPMed
gnomAD
cosmic curated
rs1200574180355Q>LTOPMed
gnomAD
rs760607141356G>RExAC
gnomAD
rs889105642357V>AEnsembl
rs767307176357V>LExAC
gnomAD
rs767307176357V>MExAC
gnomAD
rs2044152951358P>REnsembl
rs2044152847359V>GEnsembl
rs763292601359V>MExAC
TOPMed
gnomAD
COSV99543719
COSV54702890
361E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs370445471362D>EESP
ExAC
TOPMed
gnomAD
rs1597665451363V>GEnsembl
rs200631136363V>MESP
ExAC
TOPMed
gnomAD
rs2044152605364G>RTOPMed
rs1466689853365R>QTOPMed
gnomAD
COSV54703898
rs374267248
365R>Wcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs771355373367R>QExAC
TOPMed
gnomAD
rs143684477367R>W1000Genomes
ExAC
TOPMed
gnomAD
rs773478418368R>QExAC
TOPMed
gnomAD
rs747481295368R>WExAC
TOPMed
gnomAD
COSV54705151
COSV99543582
369R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54705151
rs747844837
369R>Qcosmic curated
ExAC
TOPMed
gnomAD
COSV54702248
rs772371078
369R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs778503285370R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs754546074370R>QExAC
TOPMed
gnomAD
rs1597665385371V>GEnsembl
rs1177422700371V>LTOPMed
gnomAD
rs371057866373Q>K1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750328473374T>KExAC
TOPMed
gnomAD
COSV99543749
rs750328473
374T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs1567469891374T>SEnsembl
rs757088162376V>IExAC
gnomAD
rs2044151167381T>AEnsembl
COSV54703744
rs1448540025
381T>Icosmic curated
gnomAD
rs765542484382L>MExAC
gnomAD
COSV54704342384L>Mcosmic curated
COSV54703182
rs1019404981
385A>Vcosmic curated
TOPMed
gnomAD
rs759774108386L>FExAC
gnomAD
rs1597665297387F>CEnsembl
rs1418815263389P>TgnomAD
COSV54705224390D>Hcosmic curated
rs766440636391I>MExAC
TOPMed
gnomAD
rs1226467885391I>VTOPMed
gnomAD
rs761106367392G>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV54703691392G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV54703691
rs761106367
392G>SVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
rs773744363396S>AExAC
gnomAD
rs1257073784396S>LTOPMed
rs781118550396S>RExAC
gnomAD
rs1444245710398I>TgnomAD
rs1260194584399G>AgnomAD
rs1260194584399G>EgnomAD
rs891872150400G>DTOPMed
rs1216562602400G>SgnomAD
rs1597665252402A>TEnsembl
rs370282423403A>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs370282423403A>TVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs748934257403A>VExAC
gnomAD
rs1283281052405F>LgnomAD
rs1283281052405F>VgnomAD
rs1169647545406I>FTOPMed
rs1448099701406I>SgnomAD
rs779455409407F>LExAC
gnomAD
rs2044149379407F>SVariant of uncertain significance (Ensembl)TOPMed
rs745835014408V>FExAC
TOPMed
gnomAD
COSV99543941
rs745835014
408V>Icosmic curated
ExAC
TOPMed
gnomAD
rs781186126409F>LExAC
TOPMed
gnomAD
rs1361150530409F>LgnomAD
rs1422558779410P>LgnomAD
rs1567469388411G>VEnsembl
COSV54704612412L>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs775654419412L>PTOPMed
gnomAD
rs1243259583414L>VEnsembl
rs758186812415I>TExAC
gnomAD
rs1174824249417A>GgnomAD
rs2044132093420S>ATOPMed
rs2044132093420S>PTOPMed
COSV54703019
COSV99543686
421E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV54703019421E>Qcosmic curated
rs754045767422M>IExAC
gnomAD
rs2044131963422M>VEnsembl
rs780314890423E>KExAC
TOPMed
gnomAD
rs780314890423E>QExAC
TOPMed
gnomAD
rs1292262218427P>LTOPMed
gnomAD
COSV99543808427P>Qcosmic curated
rs756202433427P>SExAC
TOPMed
gnomAD
COSV99543812429S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs747957513430W>*ExAC
gnomAD
rs747957513430W>CExAC
gnomAD
COSV54704383431W>*cosmic curated
rs1356082868
COSV54704459
431W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
gnomAD
NCI-TCGA Cosmic
cosmic curated
COSV99543978431W>Lcosmic curated
rs544391406432V>M1000Genomes
rs778510240434V>AExAC
gnomAD
COSV54702400435S>Ccosmic curated
rs756393885435S>GExAC
gnomAD
rs377336010435S>IESP
ExAC
gnomAD
rs2044062449436Y>CTOPMed
gnomAD
COSV99543760
rs757299833
437G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs149442475437G>VESP
COSV104586631
COSV99543929
rs756773329
439L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1392731724440L>FEnsembl
rs555568883440L>M1000Genomes
ExAC
TOPMed
gnomAD
COSV99543982443L>Mcosmic curated
TCGA novel444G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1567467821445A>TEnsembl
rs1295371559445A>VTOPMed
gnomAD
rs1183470051448F>VTOPMed
gnomAD
COSV99543735449G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs377594326449G>SESP
ExAC
TOPMed
gnomAD
rs373393552450Q>RESP
TOPMed
gnomAD
rs760255911452T>IExAC
gnomAD
rs760255911452T>KExAC
gnomAD
TCGA novel453A>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs139988374454N>SESP
ExAC
TOPMed
gnomAD
COSV54702778
rs1216950371
455A>Tcosmic curated
TOPMed
gnomAD
rs768316255458V>GExAC
TOPMed
gnomAD
rs1002393071458V>MTOPMed
rs1597660179459D>AEnsembl
rs906667317459D>NTOPMed
gnomAD
rs1240839108460L>FVariant of uncertain significance (Ensembl)TOPMed
rs557456174462A>S1000Genomes
ExAC
gnomAD
rs781390038463*>LExAC
gnomAD
COSV99543734463*>Q
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
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