rs1198437328 | p.Gly3Glu | missense variant | - | NC_000004.12:g.5051871G>A | gnomAD |
NCI-TCGA novel | p.Gly3Trp | missense variant | - | NC_000004.12:g.5051870G>T | NCI-TCGA |
rs1299343785 | p.Asn4Lys | missense variant | - | NC_000004.12:g.5051875C>A | TOPMed |
rs148512879 | p.His5Gln | missense variant | - | NC_000004.12:g.5051878C>G | ESP,ExAC,gnomAD |
rs1197877399 | p.His7Gln | missense variant | - | NC_000004.12:g.5051884C>G | TOPMed,gnomAD |
rs1402332548 | p.His7Tyr | missense variant | - | NC_000004.12:g.5051882C>T | TOPMed |
rs1194742604 | p.Lys8Glu | missense variant | - | NC_000004.12:g.5051885A>G | gnomAD |
rs753328623 | p.Pro9Leu | missense variant | - | NC_000004.12:g.5051889C>T | ExAC,TOPMed,gnomAD |
rs142664782 | p.Pro9Ser | missense variant | - | NC_000004.12:g.5051888C>T | ESP,ExAC,TOPMed,gnomAD |
rs753328623 | p.Pro9His | missense variant | - | NC_000004.12:g.5051889C>A | ExAC,TOPMed,gnomAD |
rs142664782 | p.Pro9Thr | missense variant | - | NC_000004.12:g.5051888C>A | ESP,ExAC,TOPMed,gnomAD |
rs778688990 | p.Pro10Thr | missense variant | - | NC_000004.12:g.5051891C>A | ExAC,TOPMed,gnomAD |
rs778688990 | p.Pro10Ser | missense variant | - | NC_000004.12:g.5051891C>T | ExAC,TOPMed,gnomAD |
rs377478284 | p.Val11Gly | missense variant | - | NC_000004.12:g.5051895T>G | ESP,TOPMed,gnomAD |
rs1003605453 | p.Val11Met | missense variant | - | NC_000004.12:g.5051894G>A | TOPMed |
rs377478284 | p.Val11Glu | missense variant | - | NC_000004.12:g.5051895T>A | ESP,TOPMed,gnomAD |
rs1003605453 | p.Val11Met | missense variant | - | NC_000004.12:g.5051894G>A | NCI-TCGA |
COSM4730575 | p.Val11CysPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000004.12:g.5051888C>- | NCI-TCGA Cosmic |
rs1443032951 | p.Asp13Gly | missense variant | - | NC_000004.12:g.5051901A>G | gnomAD |
rs1312468093 | p.Asn15Ser | missense variant | - | NC_000004.12:g.5051907A>G | TOPMed |
rs1385208524 | p.Glu16Asp | missense variant | - | NC_000004.12:g.5051911G>C | gnomAD |
rs371186002 | p.Glu16Gly | missense variant | - | NC_000004.12:g.5051910A>G | ESP,ExAC,gnomAD |
rs1297751294 | p.Glu17Lys | missense variant | - | NC_000004.12:g.5051912G>A | gnomAD |
rs778226781 | p.Asn19Thr | missense variant | - | NC_000004.12:g.5139908A>C | ExAC,TOPMed,gnomAD |
rs747384315 | p.Phe20Ile | missense variant | - | NC_000004.12:g.5139910T>A | ExAC,TOPMed,gnomAD |
rs1411826365 | p.His22Arg | missense variant | - | NC_000004.12:g.5139917A>G | gnomAD |
rs564594306 | p.Phe23Tyr | missense variant | - | NC_000004.12:g.5139920T>A | 1000Genomes,ExAC,gnomAD |
rs762345352 | p.Arg27Gln | missense variant | - | NC_000004.12:g.5139932G>A | NCI-TCGA |
rs777255527 | p.Arg27Trp | missense variant | - | NC_000004.12:g.5139931C>T | ExAC,TOPMed,gnomAD |
rs777255527 | p.Arg27Trp | missense variant | - | NC_000004.12:g.5139931C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs762345352 | p.Arg27Gln | missense variant | - | NC_000004.12:g.5139932G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Lys31Arg | missense variant | - | NC_000004.12:g.5139944A>G | NCI-TCGA |
rs767165585 | p.Gly32Arg | missense variant | - | NC_000004.12:g.5139946G>C | NCI-TCGA,NCI-TCGA Cosmic |
rs767165585 | p.Gly32Trp | missense variant | - | NC_000004.12:g.5139946G>T | ExAC,TOPMed,gnomAD |
rs767165585 | p.Gly32Arg | missense variant | - | NC_000004.12:g.5139946G>C | ExAC,TOPMed,gnomAD |
COSM734238 | p.Gly32Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5139947G>T | NCI-TCGA Cosmic |
rs1273683262 | p.Ser33Asn | missense variant | - | NC_000004.12:g.5139950G>A | gnomAD |
COSM1429975 | p.Gly35Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5139955G>A | NCI-TCGA Cosmic |
VAR_041166 | p.Gly35Glu | Missense | - | - | UniProt |
rs778124195 | p.Lys36Arg | missense variant | - | NC_000004.12:g.5139959A>G | ExAC,TOPMed,gnomAD |
rs778124195 | p.Lys36Thr | missense variant | - | NC_000004.12:g.5139959A>C | ExAC,TOPMed,gnomAD |
COSM734237 | p.Lys36Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5139959A>T | NCI-TCGA Cosmic |
rs1199168608 | p.Val37Leu | missense variant | - | NC_000004.12:g.5168299G>C | TOPMed |
rs757496156 | p.Cys38Arg | missense variant | - | NC_000004.12:g.5168302T>C | ExAC,gnomAD |
rs750791100 | p.Ile39Val | missense variant | - | NC_000004.12:g.5168305A>G | ExAC,TOPMed,gnomAD |
rs545537211 | p.Val40Met | missense variant | - | NC_000004.12:g.5168308G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1338922986 | p.Gln41Arg | missense variant | - | NC_000004.12:g.5168312A>G | TOPMed |
rs749831897 | p.Arg43Ter | stop gained | - | NC_000004.12:g.5168317C>T | ExAC,TOPMed,gnomAD |
rs777210952 | p.Arg43Gln | missense variant | - | NC_000004.12:g.5168318G>A | ExAC,TOPMed,gnomAD |
rs1377864060 | p.Thr45Ile | missense variant | - | NC_000004.12:g.5168324C>T | gnomAD |
rs770612287 | p.Thr45Ala | missense variant | - | NC_000004.12:g.5168323A>G | ExAC,TOPMed,gnomAD |
rs1174000021 | p.Lys47Thr | missense variant | - | NC_000004.12:g.5168330A>C | gnomAD |
rs1229010019 | p.Lys47Ter | stop gained | - | NC_000004.12:g.5168329A>T | gnomAD |
rs776205066 | p.Met48Arg | missense variant | - | NC_000004.12:g.5168333T>G | ExAC,TOPMed,gnomAD |
rs776205066 | p.Met48Thr | missense variant | - | NC_000004.12:g.5168333T>C | ExAC,TOPMed,gnomAD |
COSM1429976 | p.Met48Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5168332A>T | NCI-TCGA Cosmic |
rs769518247 | p.Met51Val | missense variant | - | NC_000004.12:g.5168341A>G | ExAC,TOPMed,gnomAD |
rs775454756 | p.Met54Val | missense variant | - | NC_000004.12:g.5168350A>G | ExAC,gnomAD |
rs1388650594 | p.Asn55His | missense variant | - | NC_000004.12:g.5168353A>C | TOPMed,gnomAD |
rs1388650594 | p.Asn55Asp | missense variant | - | NC_000004.12:g.5168353A>G | TOPMed,gnomAD |
rs762934069 | p.Asn55Ser | missense variant | - | NC_000004.12:g.5168354A>G | ExAC,gnomAD |
rs1231261387 | p.Gln57Pro | missense variant | - | NC_000004.12:g.5168360A>C | gnomAD |
rs1231261387 | p.Gln57Arg | missense variant | - | NC_000004.12:g.5168360A>G | gnomAD |
rs1305495889 | p.Gln57Ter | stop gained | - | NC_000004.12:g.5168359C>T | gnomAD |
COSM1055887 | p.Gln57His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5168361G>T | NCI-TCGA Cosmic |
rs143425183 | p.Lys58Glu | missense variant | - | NC_000004.12:g.5168362A>G | ESP,ExAC,TOPMed,gnomAD |
rs143425183 | p.Lys58Gln | missense variant | - | NC_000004.12:g.5168362A>C | ESP,ExAC,TOPMed,gnomAD |
rs761860840 | p.Ile60Val | missense variant | - | NC_000004.12:g.5168368A>G | ExAC,gnomAD |
rs372080812 | p.Glu61Lys | missense variant | - | NC_000004.12:g.5168371G>A | ESP,ExAC,TOPMed,gnomAD |
rs372080812 | p.Glu61Gln | missense variant | - | NC_000004.12:g.5168371G>C | ESP,ExAC,TOPMed,gnomAD |
rs541483207 | p.Arg62Thr | missense variant | - | NC_000004.12:g.5168375G>C | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Arg62Met | missense variant | - | NC_000004.12:g.5168375G>T | NCI-TCGA |
rs755414078 | p.Val65Ile | missense variant | - | NC_000004.12:g.5168383G>A | ExAC,gnomAD |
rs375561881 | p.Arg66Trp | missense variant | - | NC_000004.12:g.5168386C>T | ESP,ExAC,TOPMed,gnomAD |
rs751060581 | p.Arg66Gln | missense variant | - | NC_000004.12:g.5168387G>A | ExAC,TOPMed,gnomAD |
COSM4915747 | p.Val68Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5168393T>A | NCI-TCGA Cosmic |
rs371890370 | p.Arg70Trp | missense variant | - | NC_000004.12:g.5168398C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs200882867 | p.Arg70Gln | missense variant | - | NC_000004.12:g.5168399G>A | ESP,ExAC,TOPMed,gnomAD |
COSM6100342 | p.Arg70Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5168399G>T | NCI-TCGA Cosmic |
rs1352713397 | p.Glu71Lys | missense variant | - | NC_000004.12:g.5168401G>A | gnomAD |
rs988960010 | p.Gln73Ter | stop gained | - | NC_000004.12:g.5168407C>T | TOPMed,gnomAD |
rs745472588 | p.Gln73His | missense variant | - | NC_000004.12:g.5168409G>C | ExAC,TOPMed,gnomAD |
rs769507072 | p.Ile74Asn | missense variant | - | NC_000004.12:g.5168411T>A | ExAC,gnomAD |
rs769507072 | p.Ile74Ser | missense variant | - | NC_000004.12:g.5168411T>G | ExAC,gnomAD |
NCI-TCGA novel | p.Met75Ile | missense variant | - | NC_000004.12:g.5168415G>T | NCI-TCGA |
rs373306420 | p.Gln76Glu | missense variant | - | NC_000004.12:g.5168416C>G | ESP,ExAC,TOPMed,gnomAD |
rs1218432857 | p.Gln76His | missense variant | - | NC_000004.12:g.5168418A>T | TOPMed,gnomAD |
rs146725950 | p.Gln76Arg | missense variant | - | NC_000004.12:g.5168417A>G | ESP,ExAC,gnomAD |
rs199646927 | p.Gly77Arg | missense variant | - | NC_000004.12:g.5168419G>A | 1000Genomes,ExAC,gnomAD |
rs757057483 | p.Leu78Met | missense variant | - | NC_000004.12:g.5168422C>A | ExAC,TOPMed,gnomAD |
rs773370528 | p.Glu79Lys | missense variant | - | NC_000004.12:g.5168425G>A | ExAC,gnomAD |
rs140264745 | p.His80Gln | missense variant | - | NC_000004.12:g.5168430C>G | ESP,TOPMed,gnomAD |
rs760752437 | p.Pro81Arg | missense variant | - | NC_000004.12:g.5168432C>G | ExAC,gnomAD |
rs1325990926 | p.Leu83Val | missense variant | - | NC_000004.12:g.5168437C>G | TOPMed |
rs377501200 | p.Val84Asp | missense variant | - | NC_000004.12:g.5168441T>A | ESP,gnomAD |
rs377501200 | p.Val84Gly | missense variant | - | NC_000004.12:g.5168441T>G | ESP,gnomAD |
rs754198223 | p.Val84Leu | missense variant | - | NC_000004.12:g.5168440G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Leu86Met | missense variant | - | NC_000004.12:g.5168446C>A | NCI-TCGA |
rs1210596036 | p.Trp87Ter | stop gained | - | NC_000004.12:g.5331220G>A | gnomAD |
rs1210596036 | p.Trp87Cys | missense variant | - | NC_000004.12:g.5331220G>C | gnomAD |
rs1192711962 | p.Trp87Arg | missense variant | - | NC_000004.12:g.5168449T>C | gnomAD |
rs775948330 | p.Tyr88Ter | stop gained | - | NC_000004.12:g.5331223C>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Tyr88Asp | missense variant | - | NC_000004.12:g.5331221T>G | NCI-TCGA |
rs763308670 | p.Phe90Ser | missense variant | - | NC_000004.12:g.5331228T>C | ExAC,gnomAD |
rs948957365 | p.Gln91Arg | missense variant | - | NC_000004.12:g.5331231A>G | TOPMed |
NCI-TCGA novel | p.Asp92Asn | missense variant | - | NC_000004.12:g.5331233G>A | NCI-TCGA |
rs1217612632 | p.Glu93Val | missense variant | - | NC_000004.12:g.5331237A>T | TOPMed |
NCI-TCGA novel | p.Glu93Lys | missense variant | - | NC_000004.12:g.5331236G>A | NCI-TCGA |
rs1201342426 | p.Glu94Lys | missense variant | - | NC_000004.12:g.5331239G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Glu94Ter | stop gained | - | NC_000004.12:g.5331239G>T | NCI-TCGA |
rs1377554298 | p.Met96Thr | missense variant | - | NC_000004.12:g.5331246T>C | TOPMed |
rs1269653643 | p.Met96Ile | missense variant | - | NC_000004.12:g.5331247G>A | gnomAD |
NCI-TCGA novel | p.Phe97Leu | missense variant | - | NC_000004.12:g.5331248T>C | NCI-TCGA |
NCI-TCGA novel | p.Met98Ile | missense variant | - | NC_000004.12:g.5331253G>A | NCI-TCGA |
rs1238710384 | p.Val99Ala | missense variant | - | NC_000004.12:g.5331255T>C | gnomAD |
NCI-TCGA novel | p.Val100Leu | missense variant | - | NC_000004.12:g.5331257G>C | NCI-TCGA |
rs549068199 | p.Leu103Phe | missense variant | - | NC_000004.12:g.5331266C>T | 1000Genomes,ExAC,gnomAD |
rs1467502143 | p.Gly105Glu | missense variant | - | NC_000004.12:g.5331273G>A | gnomAD |
rs766107862 | p.Gly105Arg | missense variant | - | NC_000004.12:g.5331272G>A | ExAC,gnomAD |
rs1246720519 | p.Gly106Asp | missense variant | - | NC_000004.12:g.5331276G>A | gnomAD |
rs1440862465 | p.Asp107Glu | missense variant | - | NC_000004.12:g.5331280C>A | gnomAD |
rs754708470 | p.Asp107Asn | missense variant | - | NC_000004.12:g.5331278G>A | ExAC,gnomAD |
rs747981829 | p.Arg109His | missense variant | - | NC_000004.12:g.5331285G>A | ExAC,TOPMed,gnomAD |
rs137874810 | p.Arg109Cys | missense variant | - | NC_000004.12:g.5331284C>T | ESP,ExAC,TOPMed,gnomAD |
rs758265694 | p.His111Arg | missense variant | - | NC_000004.12:g.5331291A>G | ExAC,TOPMed,gnomAD |
rs1481359190 | p.Gln113Ter | stop gained | - | NC_000004.12:g.5331296C>T | TOPMed |
rs747038457 | p.Gln114Arg | missense variant | - | NC_000004.12:g.5331300A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gln114Leu | missense variant | - | NC_000004.12:g.5331300A>T | NCI-TCGA |
rs771042556 | p.Asn115Thr | missense variant | - | NC_000004.12:g.5331303A>C | ExAC,gnomAD |
rs1437112735 | p.Asn115His | missense variant | - | NC_000004.12:g.5331302A>C | gnomAD |
rs776726197 | p.Val116Met | missense variant | - | NC_000004.12:g.5331305G>A | ExAC,gnomAD |
COSM6100309 | p.Val116Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5331306T>A | NCI-TCGA Cosmic |
rs1199047989 | p.His117Tyr | missense variant | - | NC_000004.12:g.5331308C>T | gnomAD |
rs770013842 | p.His117Gln | missense variant | - | NC_000004.12:g.5331310T>G | ExAC,gnomAD |
rs1171768944 | p.Glu120Asp | missense variant | - | NC_000004.12:g.5331319G>T | gnomAD |
rs1468595978 | p.Gly121Arg | missense variant | - | NC_000004.12:g.5331320G>A | TOPMed |
rs1400249355 | p.Gly121Glu | missense variant | - | NC_000004.12:g.5331321G>A | gnomAD |
rs199915823 | p.Val123Met | missense variant | - | NC_000004.12:g.5331326G>A | 1000Genomes,TOPMed,gnomAD |
rs199915823 | p.Val123Leu | missense variant | - | NC_000004.12:g.5331326G>C | 1000Genomes,TOPMed,gnomAD |
rs149040164 | p.Leu125His | missense variant | - | NC_000004.12:g.5331333T>A | ESP,TOPMed |
rs1343231990 | p.Tyr126His | missense variant | - | NC_000004.12:g.5331335T>C | TOPMed,gnomAD |
rs1343231990 | p.Tyr126Asp | missense variant | - | NC_000004.12:g.5331335T>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Ile127Ser | missense variant | - | NC_000004.12:g.5331339T>G | NCI-TCGA |
rs774970997 | p.Leu130Val | missense variant | - | NC_000004.12:g.5331347C>G | ExAC,gnomAD |
rs765945658 | p.Ala131Thr | missense variant | - | NC_000004.12:g.5331350G>A | ExAC,gnomAD |
rs754612675 | p.Leu132Met | missense variant | - | NC_000004.12:g.5331353C>A | ExAC,gnomAD |
rs1452327861 | p.Ala133Ser | missense variant | - | NC_000004.12:g.5331356G>T | gnomAD |
NCI-TCGA novel | p.Ala133Asp | missense variant | - | NC_000004.12:g.5331357C>A | NCI-TCGA |
rs1221811613 | p.Leu134Met | missense variant | - | NC_000004.12:g.5331359C>A | gnomAD |
rs1489368346 | p.Glu135Lys | missense variant | - | NC_000004.12:g.5331362G>A | gnomAD |
rs1379294126 | p.Leu137Ile | missense variant | - | NC_000004.12:g.5331368C>A | TOPMed |
rs1474623698 | p.Arg139Met | missense variant | - | NC_000004.12:g.5331375G>T | gnomAD |
rs758262361 | p.Tyr140Cys | missense variant | - | NC_000004.12:g.5331378A>G | ExAC,gnomAD |
rs1415117623 | p.His141Asn | missense variant | - | NC_000004.12:g.5331380C>A | TOPMed,gnomAD |
rs777544377 | p.Ile143Asn | missense variant | - | NC_000004.12:g.5331387T>A | ExAC,gnomAD |
COSM3604432 | p.His144Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5331389C>T | NCI-TCGA Cosmic |
COSM1055970 | p.Asp146Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5398208G>T | NCI-TCGA Cosmic |
rs749485737 | p.Pro149Leu | missense variant | - | NC_000004.12:g.5398218C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Pro149Ala | missense variant | - | NC_000004.12:g.5398217C>G | NCI-TCGA |
rs1453797701 | p.Asn151Ser | missense variant | - | NC_000004.12:g.5398224A>G | TOPMed,gnomAD |
rs1461277415 | p.Asn151Asp | missense variant | - | NC_000004.12:g.5398223A>G | gnomAD |
rs768781989 | p.Ile152Thr | missense variant | - | NC_000004.12:g.5398227T>C | ExAC,gnomAD |
rs141944069 | p.Ile152Val | missense variant | - | NC_000004.12:g.5398226A>G | ESP,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu153Pro | missense variant | - | NC_000004.12:g.5398230T>C | NCI-TCGA |
NCI-TCGA novel | p.Leu154ProPheSerTerUnkUnk | frameshift | - | NC_000004.12:g.5398228_5398229insTTACCAATTATTCTCCCACTCCATGT | NCI-TCGA |
rs375750468 | p.Leu154Pro | missense variant | - | NC_000004.12:g.5398233T>C | ESP,ExAC,TOPMed,gnomAD |
rs1451090370 | p.His157Arg | missense variant | - | NC_000004.12:g.5398242A>G | TOPMed,gnomAD |
rs759087360 | p.Gly158Arg | missense variant | - | NC_000004.12:g.5398244G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Gly158Val | missense variant | - | NC_000004.12:g.5416845G>T | NCI-TCGA |
rs753875188 | p.Gly158Glu | missense variant | - | NC_000004.12:g.5416845G>A | ExAC,gnomAD |
NCI-TCGA novel | p.His159Asn | missense variant | - | NC_000004.12:g.5416847C>A | NCI-TCGA |
rs1222095654 | p.Val160Ile | missense variant | - | NC_000004.12:g.5416850G>A | gnomAD |
rs796052163 | p.Thr163Ala | missense variant | - | NC_000004.12:g.5416859A>G | - |
RCV000190159 | p.Thr163Ala | missense variant | Long QT syndrome (LQTS) | NC_000004.12:g.5416859A>G | ClinVar |
rs755159915 | p.Thr163Ile | missense variant | - | NC_000004.12:g.5416860C>T | ExAC,gnomAD |
rs779336931 | p.Asn166Ile | missense variant | - | NC_000004.12:g.5416869A>T | ExAC,gnomAD |
rs1319227684 | p.Asn166Asp | missense variant | - | NC_000004.12:g.5416868A>G | gnomAD |
rs772605768 | p.Ile167Thr | missense variant | - | NC_000004.12:g.5416872T>C | ExAC,gnomAD |
rs772605768 | p.Ile167Lys | missense variant | - | NC_000004.12:g.5416872T>A | ExAC,gnomAD |
rs748502788 | p.Ile167Val | missense variant | - | NC_000004.12:g.5416871A>G | ExAC,TOPMed,gnomAD |
rs778314748 | p.Ala168Val | missense variant | - | NC_000004.12:g.5416875C>T | ExAC,TOPMed,gnomAD |
rs139253606 | p.Thr169Met | missense variant | - | NC_000004.12:g.5416878C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1428884342 | p.Val170Ala | missense variant | - | NC_000004.12:g.5416881T>C | gnomAD |
rs1425433421 | p.Val170Ile | missense variant | - | NC_000004.12:g.5416880G>A | gnomAD |
rs748812943 | p.Val171Met | missense variant | - | NC_000004.12:g.5416883G>A | ExAC,gnomAD |
rs768281954 | p.Lys172Arg | missense variant | - | NC_000004.12:g.5416887A>G | ExAC,TOPMed,gnomAD |
rs1164246090 | p.Gly173Arg | missense variant | - | NC_000004.12:g.5416889G>C | gnomAD |
COSM3604440 | p.Glu175Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5416895G>A | NCI-TCGA Cosmic |
rs761561285 | p.Arg176Ser | missense variant | - | NC_000004.12:g.5416900G>C | ExAC,gnomAD |
rs1403270244 | p.Ala177Asp | missense variant | - | NC_000004.12:g.5416902C>A | TOPMed,gnomAD |
rs767259344 | p.Met180Thr | missense variant | - | NC_000004.12:g.5416911T>C | ExAC,gnomAD |
rs767259344 | p.Met180Arg | missense variant | - | NC_000004.12:g.5416911T>G | ExAC,gnomAD |
NCI-TCGA novel | p.Met180Ile | missense variant | - | NC_000004.12:g.5416912G>T | NCI-TCGA |
rs1300260827 | p.Met180Val | missense variant | - | NC_000004.12:g.5416910A>G | gnomAD |
rs1294117995 | p.Ala181Val | missense variant | - | NC_000004.12:g.5416914C>T | gnomAD |
rs1294117995 | p.Ala181Gly | missense variant | - | NC_000004.12:g.5416914C>G | gnomAD |
rs773012849 | p.Ala181Pro | missense variant | - | NC_000004.12:g.5416913G>C | ExAC,gnomAD |
rs1323978494 | p.Thr183Ile | missense variant | - | NC_000004.12:g.5416920C>T | gnomAD |
rs1323978494 | p.Thr183Ser | missense variant | - | NC_000004.12:g.5416920C>G | gnomAD |
rs1291786613 | p.Pro185Ala | missense variant | - | NC_000004.12:g.5416925C>G | gnomAD |
NCI-TCGA novel | p.Tyr186Cys | missense variant | - | NC_000004.12:g.5416929A>G | NCI-TCGA |
rs760601120 | p.Tyr186Asn | missense variant | - | NC_000004.12:g.5416928T>A | ExAC,gnomAD |
rs1486096654 | p.Met187Ile | missense variant | - | NC_000004.12:g.5416933G>A | gnomAD |
rs1289790004 | p.Met187Val | missense variant | - | NC_000004.12:g.5416931A>G | TOPMed,gnomAD |
rs766231043 | p.Ala188Pro | missense variant | - | NC_000004.12:g.5416934G>C | ExAC,gnomAD |
rs1459892984 | p.Pro189Thr | missense variant | - | NC_000004.12:g.5446675C>A | gnomAD |
rs529797356 | p.Phe192Leu | missense variant | - | NC_000004.12:g.5446686C>G | 1000Genomes,ExAC,gnomAD |
rs766502070 | p.Val194Ala | missense variant | - | NC_000004.12:g.5446691T>C | TOPMed |
rs1330532635 | p.Val194Leu | missense variant | - | NC_000004.12:g.5446690G>T | TOPMed |
rs771706652 | p.Tyr195Cys | missense variant | - | NC_000004.12:g.5446694A>G | ExAC,TOPMed,gnomAD |
rs746790200 | p.Met196Leu | missense variant | - | NC_000004.12:g.5446696A>T | ExAC,TOPMed,gnomAD |
rs868616705 | p.Asp197Asn | missense variant | - | NC_000004.12:g.5446699G>A | TOPMed,gnomAD |
rs868616705 | p.Asp197His | missense variant | - | NC_000004.12:g.5446699G>C | TOPMed,gnomAD |
rs776507984 | p.Arg198Thr | missense variant | - | NC_000004.12:g.5446703G>C | ExAC,gnomAD |
rs3733182 | p.Arg198Gly | missense variant | - | NC_000004.12:g.5446702A>G | UniProt,dbSNP |
VAR_025899 | p.Arg198Gly | missense variant | - | NC_000004.12:g.5446702A>G | UniProt |
rs3733182 | p.Arg198Gly | missense variant | - | NC_000004.12:g.5446702A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs909277107 | p.Gly199Asp | missense variant | - | NC_000004.12:g.5446706G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Pro200Leu | missense variant | - | NC_000004.12:g.5446709C>T | NCI-TCGA |
rs1296140074 | p.Pro200Arg | missense variant | - | NC_000004.12:g.5446709C>G | gnomAD |
rs767862829 | p.Gly201Arg | missense variant | - | NC_000004.12:g.5446711G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly201Glu | missense variant | - | NC_000004.12:g.5446712G>A | NCI-TCGA |
rs767862829 | p.Gly201Arg | missense variant | - | NC_000004.12:g.5446711G>C | ExAC,TOPMed,gnomAD |
rs1282323915 | p.Tyr202His | missense variant | - | NC_000004.12:g.5446714T>C | gnomAD |
rs1326373944 | p.Tyr202Cys | missense variant | - | NC_000004.12:g.5446715A>G | TOPMed,gnomAD |
rs939472463 | p.Ser203Leu | missense variant | - | NC_000004.12:g.5446718C>T | TOPMed,gnomAD |
rs751767372 | p.Pro205Ser | missense variant | - | NC_000004.12:g.5446723C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Pro205His | missense variant | - | NC_000004.12:g.5446724C>A | NCI-TCGA |
rs762123143 | p.Pro205Arg | missense variant | - | NC_000004.12:g.5446724C>G | ExAC,gnomAD |
rs1448109220 | p.Val206Ile | missense variant | - | NC_000004.12:g.5446726G>A | gnomAD |
rs750813196 | p.Asp207Asn | missense variant | - | NC_000004.12:g.5446729G>A | ExAC,TOPMed,gnomAD |
rs756546346 | p.Asp207Val | missense variant | - | NC_000004.12:g.5446730A>T | ExAC,gnomAD |
rs780603497 | p.Trp208Cys | missense variant | - | NC_000004.12:g.5446734G>T | ExAC,gnomAD |
rs1357887354 | p.Trp208Arg | missense variant | - | NC_000004.12:g.5446732T>C | gnomAD |
rs1169035917 | p.Trp209Arg | missense variant | - | NC_000004.12:g.5446735T>C | gnomAD |
rs752188160 | p.Ser210Phe | missense variant | - | NC_000004.12:g.5446739C>T | ExAC,TOPMed,gnomAD |
rs1051091503 | p.Ile213Met | missense variant | - | NC_000004.12:g.5446749C>G | TOPMed |
rs777375854 | p.Ile213Val | missense variant | - | NC_000004.12:g.5446747A>G | ExAC,gnomAD |
rs770632283 | p.Ala215Asp | missense variant | - | NC_000004.12:g.5446754C>A | ExAC,TOPMed,gnomAD |
rs1049312912 | p.Tyr216Cys | missense variant | - | NC_000004.12:g.5446757A>G | - |
rs1159886026 | p.Glu217Ter | stop gained | - | NC_000004.12:g.5446759G>T | TOPMed |
rs1432601507 | p.Leu218Pro | missense variant | - | NC_000004.12:g.5446763T>C | gnomAD |
rs373843574 | p.Arg220Gln | missense variant | - | NC_000004.12:g.5446769G>A | ESP,ExAC,TOPMed,gnomAD |
rs745729733 | p.Arg220Trp | missense variant | - | NC_000004.12:g.5446768C>T | ExAC,TOPMed,gnomAD |
rs775620532 | p.Gly221Cys | missense variant | - | NC_000004.12:g.5446771G>T | ExAC,TOPMed,gnomAD |
rs775620532 | p.Gly221Ser | missense variant | - | NC_000004.12:g.5446771G>A | ExAC,TOPMed,gnomAD |
rs200741998 | p.Pro224Leu | missense variant | - | NC_000004.12:g.5456811C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs200741998 | p.Pro224Arg | missense variant | - | NC_000004.12:g.5456811C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs776978325 | p.Tyr225Ter | stop gained | - | NC_000004.12:g.5456815C>G | ExAC,TOPMed,gnomAD |
rs1315433083 | p.Tyr225Phe | missense variant | - | NC_000004.12:g.5456814A>T | TOPMed |
rs149571946 | p.Glu226Lys | missense variant | - | NC_000004.12:g.5456816G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs371821989 | p.His228Asp | missense variant | - | NC_000004.12:g.5456822C>G | ESP,ExAC,TOPMed,gnomAD |
rs955790754 | p.Ser229Leu | missense variant | - | NC_000004.12:g.5456826C>T | TOPMed |
rs1264318973 | p.Val230Ile | missense variant | - | NC_000004.12:g.5456828G>A | gnomAD |
rs61729663 | p.Val230Ala | missense variant | - | NC_000004.12:g.5456829T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1202515538 | p.Thr231Met | missense variant | - | NC_000004.12:g.5456832C>T | gnomAD |
rs767083865 | p.Pro232Leu | missense variant | - | NC_000004.12:g.5456835C>T | ExAC,TOPMed,gnomAD |
rs766199227 | p.Ile233Met | missense variant | - | NC_000004.12:g.5456839C>G | ExAC,TOPMed,gnomAD |
rs200308383 | p.Ile233Val | missense variant | - | NC_000004.12:g.5456837A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs200308383 | p.Ile233Phe | missense variant | - | NC_000004.12:g.5456837A>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1178245103 | p.Asp234Asn | missense variant | - | NC_000004.12:g.5456840G>A | TOPMed,gnomAD |
rs1365190294 | p.Ile236Phe | missense variant | - | NC_000004.12:g.5456846A>T | gnomAD |
rs753559150 | p.Asn238His | missense variant | - | NC_000004.12:g.5456852A>C | ExAC,gnomAD |
rs1469186556 | p.Asn238Ser | missense variant | - | NC_000004.12:g.5456853A>G | TOPMed,gnomAD |
rs148677817 | p.Met239Val | missense variant | - | NC_000004.12:g.5456855A>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys241Asn | missense variant | - | NC_000004.12:g.5456863G>T | NCI-TCGA |
rs143492079 | p.Val242Met | missense variant | - | NC_000004.12:g.5456864G>A | ESP,gnomAD |
rs35207488 | p.Arg244His | missense variant | - | NC_000004.12:g.5456871G>A | ESP,ExAC,gnomAD |
rs35207488 | p.Arg244His | missense variant | - | NC_000004.12:g.5456871G>A | UniProt,dbSNP |
VAR_041167 | p.Arg244His | missense variant | - | NC_000004.12:g.5456871G>A | UniProt |
rs371768913 | p.Arg244Cys | missense variant | - | NC_000004.12:g.5456870C>T | ESP,ExAC,TOPMed,gnomAD |
rs371768913 | p.Arg244Ser | missense variant | - | NC_000004.12:g.5456870C>A | ESP,ExAC,TOPMed,gnomAD |
rs917967915 | p.His246Gln | missense variant | - | NC_000004.12:g.5456878C>G | TOPMed,gnomAD |
rs747160240 | p.His246Arg | missense variant | - | NC_000004.12:g.5456877A>G | ExAC,TOPMed,gnomAD |
rs936223001 | p.His246Tyr | missense variant | - | NC_000004.12:g.5456876C>T | TOPMed |
COSM4125114 | p.Tyr247His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5456879T>C | NCI-TCGA Cosmic |
rs781445086 | p.Ser248Phe | missense variant | - | NC_000004.12:g.5456883C>T | ExAC,TOPMed,gnomAD |
rs781445086 | p.Ser248Tyr | missense variant | - | NC_000004.12:g.5456883C>A | ExAC,TOPMed,gnomAD |
rs575973493 | p.Ser248Pro | missense variant | - | NC_000004.12:g.5456882T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs746192191 | p.Ser249Phe | missense variant | - | NC_000004.12:g.5456886C>T | ExAC,gnomAD |
rs1249392867 | p.Thr250Ala | missense variant | - | NC_000004.12:g.5456888A>G | TOPMed,gnomAD |
rs541708015 | p.Thr250Arg | missense variant | - | NC_000004.12:g.5456889C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1249392867 | p.Thr250Pro | missense variant | - | NC_000004.12:g.5456888A>C | TOPMed,gnomAD |
rs541708015 | p.Thr250Met | missense variant | - | NC_000004.12:g.5456889C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1180104072 | p.Trp251Arg | missense variant | - | NC_000004.12:g.5456891T>A | TOPMed |
rs1269396867 | p.Cys252Ser | missense variant | - | NC_000004.12:g.5456895G>C | gnomAD |
rs769289357 | p.Gly254Ala | missense variant | - | NC_000004.12:g.5456901G>C | ExAC,gnomAD |
rs1001964583 | p.Met255Ile | missense variant | - | NC_000004.12:g.5456905G>C | TOPMed |
rs772843056 | p.Met255Thr | missense variant | - | NC_000004.12:g.5456904T>C | ExAC,gnomAD |
rs1462573997 | p.Val256Met | missense variant | - | NC_000004.12:g.5456906G>A | gnomAD |
COSM1430102 | p.Ala257Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5456909G>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ala257Gly | missense variant | - | NC_000004.12:g.5456910C>G | NCI-TCGA |
rs767573014 | p.Leu262Phe | missense variant | - | NC_000004.12:g.5460103C>T | ExAC,gnomAD |
rs750469503 | p.Thr264Ile | missense variant | - | NC_000004.12:g.5460110C>T | ExAC,gnomAD |
rs750469503 | p.Thr264Ser | missense variant | - | NC_000004.12:g.5460110C>G | ExAC,gnomAD |
rs200072965 | p.Lys265Arg | missense variant | - | NC_000004.12:g.5460113A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys265ArgPheSerTerUnkUnk | frameshift | - | NC_000004.12:g.5460110C>- | NCI-TCGA |
rs1253743392 | p.Asp266Val | missense variant | - | NC_000004.12:g.5460116A>T | TOPMed |
rs1483984721 | p.Asp266Tyr | missense variant | - | NC_000004.12:g.5460115G>T | TOPMed |
rs375739358 | p.Pro267Ser | missense variant | - | NC_000004.12:g.5460118C>T | ESP,ExAC,TOPMed,gnomAD |
rs146714972 | p.Glu268Lys | missense variant | - | NC_000004.12:g.5460121G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs748608814 | p.Ser269Asn | missense variant | - | NC_000004.12:g.5460125G>A | ExAC,gnomAD |
rs201405239 | p.Arg270His | missense variant | - | NC_000004.12:g.5460128G>A | ExAC,TOPMed,gnomAD |
rs772462903 | p.Arg270Cys | missense variant | - | NC_000004.12:g.5460127C>T | ExAC,gnomAD |
rs369572115 | p.Val271Met | missense variant | - | NC_000004.12:g.5460130G>A | ESP,ExAC,TOPMed,gnomAD |
rs775048920 | p.Ser272Pro | missense variant | - | NC_000004.12:g.5460133T>C | ExAC,gnomAD |
rs1408968323 | p.His275Arg | missense variant | - | NC_000004.12:g.5460143A>G | gnomAD |
NCI-TCGA novel | p.Asp276Gly | missense variant | - | NC_000004.12:g.5460146A>G | NCI-TCGA |
COSM481336 | p.Ile277Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5460149T>C | NCI-TCGA Cosmic |
rs1432121776 | p.Ser279Thr | missense variant | - | NC_000004.12:g.5460155G>C | gnomAD |
rs369116885 | p.Val280Leu | missense variant | - | NC_000004.12:g.5460157G>C | ESP,ExAC,gnomAD |
rs369116885 | p.Val280Met | missense variant | - | NC_000004.12:g.5460157G>A | ESP,ExAC,gnomAD |
rs762431140 | p.Pro281Ser | missense variant | - | NC_000004.12:g.5460160C>T | TOPMed |
COSM3974936 | p.Tyr282Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000004.12:g.5460165C>G | NCI-TCGA Cosmic |
rs1299582035 | p.Leu283Ser | missense variant | - | NC_000004.12:g.5460167T>C | gnomAD |
rs748590636 | p.Asp285Gly | missense variant | - | NC_000004.12:g.5460173A>G | ExAC |
rs553561922 | p.Asp285Tyr | missense variant | - | NC_000004.12:g.5460172G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs553561922 | p.Asp285Asn | missense variant | - | NC_000004.12:g.5460172G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs377258998 | p.Met286Arg | missense variant | - | NC_000004.12:g.5460176T>G | ESP,ExAC,gnomAD |
rs778195141 | p.Met286Ile | missense variant | - | NC_000004.12:g.5460177G>C | ExAC,gnomAD |
rs1277827028 | p.Asn287His | missense variant | - | NC_000004.12:g.5460178A>C | gnomAD |
rs745354091 | p.Trp288Cys | missense variant | - | NC_000004.12:g.5460183G>C | ExAC,TOPMed,gnomAD |
rs200401928 | p.Asp289Glu | missense variant | - | NC_000004.12:g.5460186C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs150966427 | p.Ala290Val | missense variant | - | NC_000004.12:g.5460188C>T | ESP,ExAC,TOPMed,gnomAD |
rs144030427 | p.Ala290Thr | missense variant | - | NC_000004.12:g.5460187G>A | ESP,ExAC,TOPMed,gnomAD |
rs1034731914 | p.Phe292Leu | missense variant | - | NC_000004.12:g.5460195C>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Phe292Leu | missense variant | - | NC_000004.12:g.5460195C>A | NCI-TCGA |
rs773060917 | p.Ala295Thr | missense variant | - | NC_000004.12:g.5460202G>A | ExAC,TOPMed,gnomAD |
rs545552601 | p.Leu296Val | missense variant | - | NC_000004.12:g.5460205C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs935407742 | p.Met297Ile | missense variant | - | NC_000004.12:g.5460210G>A | TOPMed |
rs766321055 | p.Pro298Arg | missense variant | - | NC_000004.12:g.5460212C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Pro298Ser | missense variant | - | NC_000004.12:g.5460211C>T | NCI-TCGA |
rs759834980 | p.Gly299Ser | missense variant | - | NC_000004.12:g.5460214G>A | ExAC,TOPMed,gnomAD |
rs150100756 | p.Gly299Ala | missense variant | - | NC_000004.12:g.5460215G>C | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Phe300Ser | missense variant | - | NC_000004.12:g.5460218T>C | NCI-TCGA |
rs1347242822 | p.Val301Leu | missense variant | - | NC_000004.12:g.5460220G>T | gnomAD |
rs778234564 | p.Asn303Ser | missense variant | - | NC_000004.12:g.5460227A>G | ExAC,TOPMed,gnomAD |
rs1274196930 | p.Asn303His | missense variant | - | NC_000004.12:g.5460226A>C | gnomAD |
rs754519901 | p.Lys304Ile | missense variant | - | NC_000004.12:g.5466704A>T | ExAC,TOPMed,gnomAD |
rs937802683 | p.Lys304Asn | missense variant | - | NC_000004.12:g.5466705A>C | TOPMed |
rs1162259500 | p.Arg306Lys | missense variant | - | NC_000004.12:g.5466710G>A | gnomAD |
rs747704616 | p.Arg306Ser | missense variant | - | NC_000004.12:g.5466711G>T | ExAC,TOPMed,gnomAD |
rs1402228525 | p.Leu307Met | missense variant | - | NC_000004.12:g.5466712T>A | gnomAD |
rs1187248021 | p.Asn308His | missense variant | - | NC_000004.12:g.5466715A>C | TOPMed |
rs56259884 | p.Asp310Gly | missense variant | - | NC_000004.12:g.5466722A>G | TOPMed |
rs746880267 | p.Asp310Asn | missense variant | - | NC_000004.12:g.5466721G>A | ExAC,TOPMed,gnomAD |
rs56259884 | p.Asp310Val | missense variant | - | NC_000004.12:g.5466722A>T | TOPMed |
rs746880267 | p.Asp310Tyr | missense variant | - | NC_000004.12:g.5466721G>T | ExAC,TOPMed,gnomAD |
rs1338732338 | p.Pro311Ala | missense variant | - | NC_000004.12:g.5466724C>G | gnomAD |
rs1244393797 | p.Phe313Val | missense variant | - | NC_000004.12:g.5466730T>G | gnomAD |
COSM734186 | p.Glu314Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5466733G>A | NCI-TCGA Cosmic |
rs1282641396 | p.Glu314Asp | missense variant | - | NC_000004.12:g.5466735G>T | gnomAD |
NCI-TCGA novel | p.Glu317Asp | missense variant | - | NC_000004.12:g.5466744G>T | NCI-TCGA |
NCI-TCGA novel | p.Glu317Ter | stop gained | - | NC_000004.12:g.5466742G>T | NCI-TCGA |
rs1224629488 | p.Leu320Ile | missense variant | - | NC_000004.12:g.5466751C>A | gnomAD |
COSM734185 | p.Glu321Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5466754G>C | NCI-TCGA Cosmic |
rs775656196 | p.Pro324Leu | missense variant | - | NC_000004.12:g.5466764C>T | ExAC,TOPMed,gnomAD |
rs769949140 | p.Pro324Ser | missense variant | - | NC_000004.12:g.5466763C>T | ExAC,TOPMed,gnomAD |
COSM4125117 | p.Leu325Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5466766C>A | NCI-TCGA Cosmic |
rs1416721924 | p.Leu325Phe | missense variant | - | NC_000004.12:g.5466766C>T | gnomAD |
NCI-TCGA novel | p.His326Arg | missense variant | - | NC_000004.12:g.5466770A>G | NCI-TCGA |
NCI-TCGA novel | p.Lys328Asn | missense variant | - | NC_000004.12:g.5466777G>T | NCI-TCGA |
rs190741865 | p.Lys330Gln | missense variant | - | NC_000004.12:g.5466781A>C | 1000Genomes,ExAC,gnomAD |
rs1159536062 | p.Arg331Ter | stop gained | - | NC_000004.12:g.5466784C>T | gnomAD |
rs1411185210 | p.Arg331Gln | missense variant | - | NC_000004.12:g.5466785G>A | TOPMed,gnomAD |
rs1455625517 | p.Ala333Thr | missense variant | - | NC_000004.12:g.5466790G>A | gnomAD |
COSM1056024 | p.Lys334Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5466795G>T | NCI-TCGA Cosmic |
rs574395382 | p.Asn335Ser | missense variant | - | NC_000004.12:g.5466797A>G | 1000Genomes,TOPMed,gnomAD |
rs574395382 | p.Asn335Thr | missense variant | - | NC_000004.12:g.5466797A>C | 1000Genomes,TOPMed,gnomAD |
COSM1056025 | p.Arg336Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5466800G>T | NCI-TCGA Cosmic |
rs762211636 | p.Ser337Phe | missense variant | - | NC_000004.12:g.5466803C>T | ExAC,TOPMed,gnomAD |
COSM1310126 | p.Arg338Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5466806G>A | NCI-TCGA Cosmic |
rs767977596 | p.Gly340Asp | missense variant | - | NC_000004.12:g.5466812G>A | ExAC,gnomAD |
rs1332455670 | p.Lys342Glu | missense variant | - | NC_000004.12:g.5466817A>G | gnomAD |
rs55961955 | p.Lys342Thr | missense variant | - | NC_000004.12:g.5466818A>C | - |
rs55961955 | p.Lys342Thr | missense variant | - | NC_000004.12:g.5466818A>C | UniProt,dbSNP |
VAR_041169 | p.Lys342Thr | missense variant | - | NC_000004.12:g.5466818A>C | UniProt |
NCI-TCGA novel | p.Asp343Gly | missense variant | - | NC_000004.12:g.5466821A>G | NCI-TCGA |
rs750888252 | p.Cys345Tyr | missense variant | - | NC_000004.12:g.5466827G>A | ExAC,gnomAD |
rs146908689 | p.Pro346Leu | missense variant | - | NC_000004.12:g.5466830C>T | ESP,ExAC,gnomAD |
rs146908689 | p.Pro346Gln | missense variant | - | NC_000004.12:g.5466830C>A | ESP,ExAC,gnomAD |
rs1368885196 | p.Gly349Arg | missense variant | - | NC_000004.12:g.5468009G>A | gnomAD |
rs369734413 | p.His350Tyr | missense variant | - | NC_000004.12:g.5468012C>T | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.His350Arg | missense variant | - | NC_000004.12:g.5468013A>G | NCI-TCGA |
rs749299468 | p.Leu351Met | missense variant | - | NC_000004.12:g.5468015C>A | ExAC,gnomAD |
rs768744752 | p.Leu351Pro | missense variant | - | NC_000004.12:g.5468016T>C | ExAC,gnomAD |
rs953423621 | p.Gln352Ter | stop gained | - | NC_000004.12:g.5468018C>T | TOPMed,gnomAD |
rs953423621 | p.Gln352Lys | missense variant | - | NC_000004.12:g.5468018C>A | TOPMed,gnomAD |
rs778884009 | p.His353Arg | missense variant | - | NC_000004.12:g.5468022A>G | ExAC,gnomAD |
rs747179105 | p.Cys354Tyr | missense variant | - | NC_000004.12:g.5468025G>A | ExAC,gnomAD |
rs772287124 | p.Leu355Trp | missense variant | - | NC_000004.12:g.5468028T>G | ExAC,gnomAD |
rs773562843 | p.Glu356Lys | missense variant | - | NC_000004.12:g.5468030G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Thr357Asn | missense variant | - | NC_000004.12:g.5468034C>A | NCI-TCGA |
rs761076752 | p.Arg359Trp | missense variant | - | NC_000004.12:g.5468039C>T | ExAC,TOPMed,gnomAD |
rs771310611 | p.Arg359Gln | missense variant | - | NC_000004.12:g.5468040G>A | ExAC,TOPMed,gnomAD |
rs761076752 | p.Arg359Gly | missense variant | - | NC_000004.12:g.5468039C>G | ExAC,TOPMed,gnomAD |
rs777155245 | p.Glu360Asp | missense variant | - | NC_000004.12:g.5468044G>T | ExAC,TOPMed,gnomAD |
COSM4125119 | p.Phe362Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5468050C>A | NCI-TCGA Cosmic |
rs574913570 | p.Ile363Met | missense variant | - | NC_000004.12:g.5468053C>G | 1000Genomes,gnomAD |
rs759980875 | p.Ile363Val | missense variant | - | NC_000004.12:g.5468051A>G | ExAC |
rs139218892 | p.Ile364Val | missense variant | - | NC_000004.12:g.5468054A>G | ESP,ExAC,TOPMed,gnomAD |
rs1263745845 | p.Asn366Ser | missense variant | - | NC_000004.12:g.5468061A>G | gnomAD |
rs751115471 | p.Asn366His | missense variant | - | NC_000004.12:g.5468060A>C | ExAC,TOPMed |
rs761548649 | p.Arg367Lys | missense variant | - | NC_000004.12:g.5468064G>A | ExAC,gnomAD |
COSM129476 | p.Glu368Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.5468066G>A | NCI-TCGA Cosmic |
rs1388579198 | p.Glu368Ala | missense variant | - | NC_000004.12:g.5468067A>C | gnomAD |
NCI-TCGA novel | p.Glu368Asp | missense variant | - | NC_000004.12:g.5468068G>T | NCI-TCGA |
rs1187927723 | p.Glu368Ter | stop gained | - | NC_000004.12:g.5468066G>T | gnomAD |
NCI-TCGA novel | p.Lys369Thr | missense variant | - | NC_000004.12:g.5468070A>C | NCI-TCGA |
rs752741978 | p.Leu370Phe | missense variant | - | NC_000004.12:g.5498946C>T | ExAC,gnomAD |
rs551254643 | p.Leu370Pro | missense variant | - | NC_000004.12:g.5498947T>C | 1000Genomes,ExAC,gnomAD |
rs747195248 | p.Arg372Lys | missense variant | - | NC_000004.12:g.5498953G>A | ExAC,gnomAD |
rs1482371691 | p.Gln374His | missense variant | - | NC_000004.12:g.5498960G>C | gnomAD |
rs564786429 | p.Gly375Arg | missense variant | - | NC_000004.12:g.5498961G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1253040509 | p.Gly375Ala | missense variant | - | NC_000004.12:g.5498962G>C | gnomAD |
rs564786429 | p.Gly375Arg | missense variant | - | NC_000004.12:g.5498961G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1180717811 | p.Gln376Ter | stop gained | - | NC_000004.12:g.5498964C>T | gnomAD |
rs1432007865 | p.Gly377Asp | missense variant | - | NC_000004.12:g.5498968G>A | gnomAD |
rs771663015 | p.Gln379Pro | missense variant | - | NC_000004.12:g.5498974A>C | ExAC,gnomAD |
rs1405374914 | p.Leu380Arg | missense variant | - | NC_000004.12:g.5498977T>G | gnomAD |
rs1309433544 | p.Leu380Val | missense variant | - | NC_000004.12:g.5498976C>G | gnomAD |
rs1219913536 | p.Asp384Asn | missense variant | - | NC_000004.12:g.5498988G>A | TOPMed,gnomAD |
rs200454551 | p.Asp384Ala | missense variant | - | NC_000004.12:g.5498989A>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs752580455 | p.Ser385Gly | missense variant | - | NC_000004.12:g.5498991A>G | ExAC,gnomAD |
rs758344233 | p.Arg386Ter | stop gained | - | NC_000004.12:g.5498994C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg386Leu | missense variant | - | NC_000004.12:g.5498995G>T | NCI-TCGA |
rs367898855 | p.Arg386Gln | missense variant | - | NC_000004.12:g.5498995G>A | ESP,ExAC,TOPMed,gnomAD |
rs183352474 | p.Gly387Val | missense variant | - | NC_000004.12:g.5498998G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs148124898 | p.Gly387Arg | missense variant | - | NC_000004.12:g.5498997G>A | ESP,ExAC,TOPMed,gnomAD |
rs183352474 | p.Gly387Ala | missense variant | - | NC_000004.12:g.5498998G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs148124898 | p.Gly387Arg | missense variant | - | NC_000004.12:g.5498997G>C | ESP,ExAC,TOPMed,gnomAD |
rs148124898 | p.Gly387Trp | missense variant | - | NC_000004.12:g.5498997G>T | ESP,ExAC,TOPMed,gnomAD |
rs780591699 | p.Gly389Ser | missense variant | - | NC_000004.12:g.5499003G>A | ExAC,gnomAD |
rs61729661 | p.Gln390Lys | missense variant | - | NC_000004.12:g.5499006C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs772845296 | p.Gln390Leu | missense variant | - | NC_000004.12:g.5499007A>T | ExAC,TOPMed,gnomAD |
rs772845296 | p.Gln390Arg | missense variant | - | NC_000004.12:g.5499007A>G | ExAC,TOPMed,gnomAD |
rs61729661 | p.Gln390Glu | missense variant | - | NC_000004.12:g.5499006C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs772845296 | p.Gln390Pro | missense variant | - | NC_000004.12:g.5499007A>C | ExAC,TOPMed,gnomAD |
rs1229495142 | p.Ala391Thr | missense variant | - | NC_000004.12:g.5499009G>A | TOPMed |
NCI-TCGA novel | p.Gln392Lys | missense variant | - | NC_000004.12:g.5499012C>A | NCI-TCGA |
rs150603763 | p.Ser393Asn | missense variant | - | NC_000004.12:g.5499016G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs759254514 | p.Lys394Thr | missense variant | - | NC_000004.12:g.5499019A>C | ExAC,gnomAD |
rs1370721774 | p.Gln396His | missense variant | - | NC_000004.12:g.5499026G>C | gnomAD |
rs141748481 | p.Asp397Glu | missense variant | - | NC_000004.12:g.5499029C>G | ESP,ExAC,TOPMed,gnomAD |
rs764952793 | p.Asp397Asn | missense variant | - | NC_000004.12:g.5499027G>A | ExAC,gnomAD |
rs1437158176 | p.Gly398Glu | missense variant | - | NC_000004.12:g.5499031G>A | TOPMed,gnomAD |
rs558465928 | p.Gly398Arg | missense variant | - | NC_000004.12:g.5499030G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs558465928 | p.Gly398Arg | missense variant | - | NC_000004.12:g.5499030G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1437158176 | p.Gly398Ala | missense variant | - | NC_000004.12:g.5499031G>C | TOPMed,gnomAD |
rs141820982 | p.Cys399Trp | missense variant | - | NC_000004.12:g.5499035C>G | ESP,ExAC,TOPMed,gnomAD |
rs146281109 | p.Asn400Ser | missense variant | - | NC_000004.12:g.5499037A>G | ESP,ExAC,gnomAD |
rs750565683 | p.Asn402His | missense variant | - | NC_000004.12:g.5499042A>C | ExAC,TOPMed,gnomAD |
rs756421946 | p.Asn402Ser | missense variant | - | NC_000004.12:g.5499043A>G | ExAC,TOPMed,gnomAD |
rs780502045 | p.Leu403Ile | missense variant | - | NC_000004.12:g.5499045C>A | ExAC,gnomAD |
rs754322386 | p.Leu403Arg | missense variant | - | NC_000004.12:g.5499046T>G | ExAC,gnomAD |
rs1473666662 | p.Leu404His | missense variant | - | NC_000004.12:g.5499049T>A | TOPMed |
rs980460562 | p.Thr405Ala | missense variant | - | NC_000004.12:g.5499051A>G | TOPMed |
rs755530371 | p.Thr405Asn | missense variant | - | NC_000004.12:g.5499052C>A | ExAC |
NCI-TCGA novel | p.His406Tyr | missense variant | - | NC_000004.12:g.5499054C>T | NCI-TCGA |
rs889191611 | p.Thr407Ile | missense variant | - | NC_000004.12:g.5499058C>T | TOPMed |
rs1254143379 | p.Thr407Ser | missense variant | - | NC_000004.12:g.5499057A>T | TOPMed |
rs746497893 | p.Cys408Arg | missense variant | - | NC_000004.12:g.5499060T>C | ExAC,gnomAD |
rs1358915442 | p.Thr409Ser | missense variant | - | NC_000004.12:g.5499063A>T | TOPMed |
rs375434120 | p.Thr409Ile | missense variant | - | NC_000004.12:g.5499064C>T | ESP,ExAC,TOPMed,gnomAD |
rs769500569 | p.Arg410Gly | missense variant | - | NC_000004.12:g.5499066C>G | ExAC,TOPMed,gnomAD |
rs769500569 | p.Arg410Ser | missense variant | - | NC_000004.12:g.5499066C>A | ExAC,TOPMed,gnomAD |
rs769500569 | p.Arg410Cys | missense variant | - | NC_000004.12:g.5499066C>T | ExAC,TOPMed,gnomAD |
rs768546143 | p.Arg410His | missense variant | - | NC_000004.12:g.5499067G>A | ExAC,TOPMed,gnomAD |
rs761837571 | p.Cys412Ter | stop gained | - | NC_000004.12:g.5499074C>A | ExAC,gnomAD |
NCI-TCGA novel | p.Ter415SerGluUnkThrTerUnkUnk | stop lost | - | NC_000004.12:g.5499082G>C | NCI-TCGA |