rs1315682263 | p.Lys2Thr | missense variant | - | NC_000012.12:g.104457416A>C | TOPMed |
rs1397742557 | p.Lys2Glu | missense variant | - | NC_000012.12:g.104457415A>G | gnomAD |
rs779782743 | p.Ala4Val | missense variant | - | NC_000012.12:g.104457422C>T | ExAC,TOPMed,gnomAD |
rs758033699 | p.Ala4Ser | missense variant | - | NC_000012.12:g.104457421G>T | ExAC,gnomAD |
rs779782743 | p.Ala4Glu | missense variant | - | NC_000012.12:g.104457422C>A | ExAC,TOPMed,gnomAD |
rs1294348579 | p.Glu7Lys | missense variant | - | NC_000012.12:g.104457430G>A | gnomAD |
NCI-TCGA novel | p.Glu7Asp | missense variant | - | NC_000012.12:g.104457432A>T | NCI-TCGA |
rs1270126457 | p.Val8Leu | missense variant | - | NC_000012.12:g.104457433G>T | TOPMed,gnomAD |
rs1453684266 | p.Val8Glu | missense variant | - | NC_000012.12:g.104457434T>A | gnomAD |
rs749410967 | p.Met9Lys | missense variant | - | NC_000012.12:g.104457437T>A | ExAC,TOPMed,gnomAD |
rs1324335474 | p.Met9Val | missense variant | - | NC_000012.12:g.104457436A>G | gnomAD |
rs374980790 | p.Arg10Lys | missense variant | - | NC_000012.12:g.104457440G>A | 1000Genomes,ESP,TOPMed,gnomAD |
rs374980790 | p.Arg10Thr | missense variant | - | NC_000012.12:g.104457440G>C | 1000Genomes,ESP,TOPMed,gnomAD |
rs374980790 | p.Arg10Met | missense variant | - | NC_000012.12:g.104457440G>T | 1000Genomes,ESP,TOPMed,gnomAD |
rs367648267 | p.Met11Leu | missense variant | - | NC_000012.12:g.104457442A>T | ESP,TOPMed |
rs894608163 | p.Met11Arg | missense variant | - | NC_000012.12:g.104457443T>G | TOPMed,gnomAD |
rs1218116202 | p.Met11Ile | missense variant | - | NC_000012.12:g.104457444G>A | TOPMed |
rs771170795 | p.Arg13Lys | missense variant | - | NC_000012.12:g.104457449G>A | ExAC,gnomAD |
rs1208614929 | p.Ile14Val | missense variant | - | NC_000012.12:g.104457451A>G | gnomAD |
rs774546652 | p.Arg16Gly | missense variant | - | NC_000012.12:g.104457457C>G | ExAC,gnomAD |
rs1486664513 | p.Arg16Gln | missense variant | - | NC_000012.12:g.104457458G>A | gnomAD |
rs144598269 | p.Met17Ile | missense variant | - | NC_000012.12:g.104457462G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs149731216 | p.Met17Thr | missense variant | - | NC_000012.12:g.104457461T>C | ESP |
rs746147552 | p.Met17Val | missense variant | - | NC_000012.12:g.104457460A>G | ExAC |
rs746147552 | p.Met17Leu | missense variant | - | NC_000012.12:g.104457460A>T | ExAC |
rs191879618 | p.Leu19Pro | missense variant | - | NC_000012.12:g.104457467T>C | 1000Genomes |
rs1262781566 | p.Thr21Ile | missense variant | - | NC_000012.12:g.104457473C>T | TOPMed |
rs761054661 | p.Cys22Phe | missense variant | - | NC_000012.12:g.104457476G>T | ExAC,gnomAD |
rs1321160570 | p.Gly24Glu | missense variant | - | NC_000012.12:g.104457482G>A | TOPMed |
rs148490795 | p.Phe26Leu | missense variant | - | NC_000012.12:g.104457489T>G | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Leu28Arg | missense variant | - | NC_000012.12:g.104457494T>G | NCI-TCGA |
rs1434735195 | p.Val29Gly | missense variant | - | NC_000012.12:g.104457497T>G | gnomAD |
COSM3455370 | p.Phe31Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104457504C>G | NCI-TCGA Cosmic |
rs1267864440 | p.Tyr32Cys | missense variant | - | NC_000012.12:g.104457506A>G | TOPMed |
NCI-TCGA novel | p.Tyr32IlePheSerTerUnkUnk | frameshift | - | NC_000012.12:g.104457504C>- | NCI-TCGA |
rs1382231752 | p.Pro39Ser | missense variant | - | NC_000012.12:g.104457526C>T | gnomAD |
rs1334448459 | p.Met41Thr | missense variant | - | NC_000012.12:g.104601909T>C | gnomAD |
rs560982261 | p.Arg42Gly | missense variant | - | NC_000012.12:g.104601911C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs751265537 | p.Arg42Gln | missense variant | - | NC_000012.12:g.104601912G>A | ExAC,gnomAD |
rs751265537 | p.Arg42Gln | missense variant | - | NC_000012.12:g.104601912G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs560982261 | p.Arg42Trp | missense variant | - | NC_000012.12:g.104601911C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg43Ser | missense variant | - | NC_000012.12:g.104601916G>T | NCI-TCGA |
rs1309514255 | p.Asn44Lys | missense variant | - | NC_000012.12:g.104601919T>A | TOPMed |
rs1177107880 | p.Asn44Ser | missense variant | - | NC_000012.12:g.104601918A>G | gnomAD |
rs1469232542 | p.Asn44Tyr | missense variant | - | NC_000012.12:g.104601917A>T | gnomAD |
rs1224400118 | p.Pro45Ser | missense variant | - | NC_000012.12:g.104601920C>T | TOPMed |
rs1370351299 | p.Phe46Ser | missense variant | - | NC_000012.12:g.104601924T>C | TOPMed |
rs1302499312 | p.Cys51Tyr | missense variant | - | NC_000012.12:g.104601939G>A | TOPMed |
rs759088814 | p.Cys52Tyr | missense variant | - | NC_000012.12:g.104601942G>A | ExAC,gnomAD |
rs767399314 | p.Arg53Trp | missense variant | - | NC_000012.12:g.104601944C>T | ExAC,TOPMed,gnomAD |
rs147660307 | p.Arg53Gln | missense variant | - | NC_000012.12:g.104601945G>A | ESP,ExAC,TOPMed,gnomAD |
rs147660307 | p.Arg53Gln | missense variant | - | NC_000012.12:g.104601945G>A | NCI-TCGA |
COSM346997 | p.Arg57Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104601957G>A | NCI-TCGA Cosmic |
rs756121766 | p.Ser58Arg | missense variant | - | NC_000012.12:g.104601959A>C | ExAC,gnomAD |
rs750565191 | p.Pro59Ala | missense variant | - | NC_000012.12:g.104601962C>G | ExAC,TOPMed,gnomAD |
rs750565191 | p.Pro59Ser | missense variant | - | NC_000012.12:g.104601962C>T | ExAC,TOPMed,gnomAD |
rs750565191 | p.Pro59Thr | missense variant | - | NC_000012.12:g.104601962C>A | ExAC,TOPMed,gnomAD |
COSM934262 | p.Tyr64Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104601978A>G | NCI-TCGA Cosmic |
rs1375460341 | p.Asn65Ser | missense variant | - | NC_000012.12:g.104601981A>G | gnomAD |
rs779979438 | p.Ile67Thr | missense variant | - | NC_000012.12:g.104601987T>C | ExAC,gnomAD |
rs760385003 | p.Leu69Pro | missense variant | - | NC_000012.12:g.104756950T>C | ExAC,TOPMed |
rs1331592239 | p.Leu69Val | missense variant | - | NC_000012.12:g.104756949C>G | TOPMed |
rs764043426 | p.Leu71Phe | missense variant | - | NC_000012.12:g.104756955C>T | ExAC,gnomAD |
rs761815306 | p.Ser72Pro | missense variant | - | NC_000012.12:g.104756958T>C | ExAC,gnomAD |
rs1324917543 | p.Ser72Leu | missense variant | - | NC_000012.12:g.104756959C>T | TOPMed |
rs1386894435 | p.Thr74Ile | missense variant | - | NC_000012.12:g.104756965C>T | TOPMed |
rs765027997 | p.Ala75Thr | missense variant | - | NC_000012.12:g.104756967G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Gln79His | missense variant | - | NC_000012.12:g.104756981G>C | NCI-TCGA |
NCI-TCGA novel | p.Arg81Leu | missense variant | - | NC_000012.12:g.104756986G>T | NCI-TCGA |
COSM5040226 | p.Arg81Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104756986G>A | NCI-TCGA Cosmic |
COSM3416414 | p.Arg81Trp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104756985C>T | NCI-TCGA Cosmic |
rs962938638 | p.Arg82Trp | missense variant | - | NC_000012.12:g.104756988C>T | TOPMed |
rs962938638 | p.Arg82Trp | missense variant | - | NC_000012.12:g.104756988C>T | NCI-TCGA |
rs767553479 | p.Arg82Gln | missense variant | - | NC_000012.12:g.104756989G>A | ExAC,gnomAD |
rs531548327 | p.Asp83Gly | missense variant | - | NC_000012.12:g.104756992A>G | 1000Genomes |
rs1171840707 | p.Gln84Lys | missense variant | - | NC_000012.12:g.104756994C>A | TOPMed |
rs1213176015 | p.Gln84Arg | missense variant | - | NC_000012.12:g.104756995A>G | gnomAD |
rs890008188 | p.Val85Gly | missense variant | - | NC_000012.12:g.104756998T>G | gnomAD |
rs1465265548 | p.Val85Leu | missense variant | - | NC_000012.12:g.104756997G>T | gnomAD |
NCI-TCGA novel | p.Asp87Tyr | missense variant | - | NC_000012.12:g.104757003G>T | NCI-TCGA |
rs1192792573 | p.Thr88Met | missense variant | - | NC_000012.12:g.104757007C>T | TOPMed,gnomAD |
rs749545581 | p.Arg90Gln | missense variant | - | NC_000012.12:g.104757013G>A | ExAC,TOPMed,gnomAD |
rs778174141 | p.Arg90Gly | missense variant | - | NC_000012.12:g.104757012C>G | ExAC,gnomAD |
rs749545581 | p.Arg90Gln | missense variant | - | NC_000012.12:g.104757013G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs140550570 | p.Ala94Thr | missense variant | - | NC_000012.12:g.104757024G>A | ESP,ExAC,TOPMed,gnomAD |
rs140550570 | p.Ala94Pro | missense variant | - | NC_000012.12:g.104757024G>C | ESP,ExAC,TOPMed,gnomAD |
rs112075588 | p.Thr95Ile | missense variant | - | NC_000012.12:g.104757028C>T | ExAC,gnomAD |
rs112075588 | p.Thr95Lys | missense variant | - | NC_000012.12:g.104757028C>A | ExAC,gnomAD |
rs112075588 | p.Thr95Arg | missense variant | - | NC_000012.12:g.104757028C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Thr95Ala | missense variant | - | NC_000012.12:g.104757027A>G | NCI-TCGA |
rs1219052668 | p.Ser96Gly | missense variant | - | NC_000012.12:g.104757030A>G | TOPMed |
rs1436190915 | p.Arg97Cys | missense variant | - | NC_000012.12:g.104757033C>T | gnomAD |
rs150467488 | p.Arg97His | missense variant | - | NC_000012.12:g.104757034G>A | ESP,ExAC,TOPMed,gnomAD |
rs759769235 | p.Arg99Trp | missense variant | - | NC_000012.12:g.104757039C>T | ExAC,TOPMed,gnomAD |
rs138320785 | p.Arg99Gln | missense variant | - | NC_000012.12:g.104757040G>A | ESP,ExAC,TOPMed,gnomAD |
rs759769235 | p.Arg99Gly | missense variant | - | NC_000012.12:g.104757039C>G | ExAC,TOPMed,gnomAD |
rs138320785 | p.Arg99Pro | missense variant | - | NC_000012.12:g.104757040G>C | ESP,ExAC,TOPMed,gnomAD |
rs1276006485 | p.Arg100Gly | missense variant | - | NC_000012.12:g.104757042A>G | gnomAD |
rs773060984 | p.Val101Met | missense variant | - | NC_000012.12:g.104757045G>A | ExAC,gnomAD |
rs1285849422 | p.Val101Glu | missense variant | - | NC_000012.12:g.104757046T>A | gnomAD |
rs1363740493 | p.Pro104Leu | missense variant | - | NC_000012.12:g.104757055C>T | TOPMed |
rs762854414 | p.Asn105Ser | missense variant | - | NC_000012.12:g.104757058A>G | ExAC,TOPMed,gnomAD |
rs145169297 | p.Asp106Asn | missense variant | - | NC_000012.12:g.104757060G>A | ESP,ExAC,TOPMed,gnomAD |
rs145169297 | p.Asp106His | missense variant | - | NC_000012.12:g.104757060G>C | ESP,ExAC,TOPMed,gnomAD |
rs764239451 | p.His116Gln | missense variant | - | NC_000012.12:g.104757092C>G | ExAC,gnomAD |
COSM934263 | p.Glu117Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757093G>A | NCI-TCGA Cosmic |
rs1342258519 | p.Ile119Leu | missense variant | - | NC_000012.12:g.104757099A>C | TOPMed,gnomAD |
rs1414368138 | p.Cys121Ter | stop gained | - | NC_000012.12:g.104757107C>A | gnomAD |
NCI-TCGA novel | p.Cys121Tyr | missense variant | - | NC_000012.12:g.104757106G>A | NCI-TCGA |
rs1457954410 | p.Tyr122Phe | missense variant | - | NC_000012.12:g.104757109A>T | gnomAD |
rs750953406 | p.Val123Met | missense variant | - | NC_000012.12:g.104757111G>A | ExAC,gnomAD |
rs1448807477 | p.Arg133Trp | missense variant | - | NC_000012.12:g.104757141C>T | TOPMed |
rs1448807477 | p.Arg133Trp | missense variant | - | NC_000012.12:g.104757141C>T | NCI-TCGA Cosmic |
COSM200209 | p.Arg133Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757142G>A | NCI-TCGA Cosmic |
rs1389618311 | p.Leu134Phe | missense variant | - | NC_000012.12:g.104757144C>T | TOPMed |
rs779716339 | p.Met135Thr | missense variant | - | NC_000012.12:g.104757148T>C | ExAC,gnomAD |
rs1335704550 | p.Met136Val | missense variant | - | NC_000012.12:g.104757150A>G | gnomAD |
rs746461296 | p.Met136Ile | missense variant | - | NC_000012.12:g.104757152G>T | ExAC,gnomAD |
rs1489204578 | p.Val137Ile | missense variant | - | NC_000012.12:g.104757153G>A | gnomAD |
rs1186832093 | p.Val137Ala | missense variant | - | NC_000012.12:g.104757154T>C | TOPMed |
rs1451527053 | p.Thr139Ile | missense variant | - | NC_000012.12:g.104757160C>T | TOPMed |
rs780670108 | p.Gly140Arg | missense variant | - | NC_000012.12:g.104757162G>A | ExAC,TOPMed,gnomAD |
rs780670108 | p.Gly140Arg | missense variant | - | NC_000012.12:g.104757162G>A | NCI-TCGA |
rs1232266665 | p.Arg141Trp | missense variant | - | NC_000012.12:g.104757165C>T | gnomAD |
rs374628300 | p.Arg141Gln | missense variant | - | NC_000012.12:g.104757166G>A | ESP,ExAC,TOPMed,gnomAD |
rs1232266665 | p.Arg141Trp | missense variant | - | NC_000012.12:g.104757165C>T | NCI-TCGA Cosmic |
rs1210226686 | p.Lys143Met | missense variant | - | NC_000012.12:g.104757172A>T | gnomAD |
rs1210226686 | p.Lys143Arg | missense variant | - | NC_000012.12:g.104757172A>G | gnomAD |
NCI-TCGA novel | p.Lys143Glu | missense variant | - | NC_000012.12:g.104757171A>G | NCI-TCGA |
NCI-TCGA novel | p.Lys143Thr | missense variant | - | NC_000012.12:g.104757172A>C | NCI-TCGA |
rs762944913 | p.Asp146Asn | missense variant | - | NC_000012.12:g.104757180G>A | ExAC,gnomAD |
rs762944913 | p.Asp146Asn | missense variant | - | NC_000012.12:g.104757180G>A | NCI-TCGA |
rs371299013 | p.Pro151Leu | missense variant | - | NC_000012.12:g.104757196C>T | ESP,ExAC,TOPMed,gnomAD |
COSM3455372 | p.Ala152Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757199C>T | NCI-TCGA Cosmic |
rs137859649 | p.Glu154Ala | missense variant | - | NC_000012.12:g.104757205A>C | ESP,ExAC,gnomAD |
rs201140777 | p.Glu154Lys | missense variant | - | NC_000012.12:g.104757204G>A | NCI-TCGA |
rs201140777 | p.Glu154Lys | missense variant | - | NC_000012.12:g.104757204G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs568223914 | p.Ala155Thr | missense variant | - | NC_000012.12:g.104757207G>A | 1000Genomes,ExAC,gnomAD |
rs765591058 | p.Val157Ile | missense variant | - | NC_000012.12:g.104757213G>A | ExAC,gnomAD |
COSM691502 | p.Val157Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757213G>T | NCI-TCGA Cosmic |
rs751147954 | p.Ala159Val | missense variant | - | NC_000012.12:g.104757220C>T | ExAC,gnomAD |
rs758987438 | p.Ala159Ser | missense variant | - | NC_000012.12:g.104757219G>T | ExAC,TOPMed,gnomAD |
rs758987438 | p.Ala159Thr | missense variant | - | NC_000012.12:g.104757219G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs758987438 | p.Ala159Thr | missense variant | - | NC_000012.12:g.104757219G>A | ExAC,TOPMed,gnomAD |
rs200936081 | p.Asn160Ser | missense variant | - | NC_000012.12:g.104757223A>G | ExAC,TOPMed,gnomAD |
rs747812654 | p.Leu161Pro | missense variant | - | NC_000012.12:g.104757226T>C | ExAC,gnomAD |
VAR_081477 | p.Leu161_Asn165del | inframe_deletion | Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) [MIM:618167] | - | UniProt |
rs757358769 | p.Lys162Asn | missense variant | - | NC_000012.12:g.104757230G>C | ExAC,TOPMed,gnomAD |
rs1210277340 | p.Gln166Leu | missense variant | - | NC_000012.12:g.104757241A>T | TOPMed,gnomAD |
rs770874557 | p.Tyr167Ter | stop gained | - | NC_000012.12:g.104757245C>G | ExAC,gnomAD |
COSM4921138 | p.Tyr167Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000012.12:g.104757245C>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser168LeuPheSerTerUnkUnk | frameshift | - | NC_000012.12:g.104757245_104757246insTTGCCTGA | NCI-TCGA |
COSM4672318 | p.Ser168Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757247G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Glu171Ter | stop gained | - | NC_000012.12:g.104757255G>T | NCI-TCGA |
rs1444343479 | p.Asn173Ser | missense variant | - | NC_000012.12:g.104757262A>G | gnomAD |
rs745785558 | p.His174Gln | missense variant | - | NC_000012.12:g.104757266C>G | ExAC,gnomAD |
rs745785558 | p.His174Gln | missense variant | - | NC_000012.12:g.104757266C>A | ExAC,gnomAD |
rs1188563357 | p.His174Tyr | missense variant | - | NC_000012.12:g.104757264C>T | gnomAD |
rs527621055 | p.Arg175His | missense variant | - | NC_000012.12:g.104757268G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs201920162 | p.Arg175Cys | missense variant | - | NC_000012.12:g.104757267C>T | gnomAD |
COSM4826617 | p.Leu176Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757272G>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser178Gly | missense variant | - | NC_000012.12:g.104757276A>G | NCI-TCGA |
rs761946477 | p.Tyr179Cys | missense variant | - | NC_000012.12:g.104757280A>G | ExAC,gnomAD |
rs765446759 | p.Met180Thr | missense variant | - | NC_000012.12:g.104757283T>C | ExAC |
rs1015775127 | p.Met180Leu | missense variant | - | NC_000012.12:g.104757282A>T | TOPMed |
rs1396230324 | p.Arg186Gln | missense variant | - | NC_000012.12:g.104757301G>A | TOPMed,gnomAD |
rs1403794941 | p.Arg186Trp | missense variant | - | NC_000012.12:g.104757300C>T | gnomAD |
COSM3870595 | p.Glu187Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757303G>A | NCI-TCGA Cosmic |
rs773737557 | p.Phe189Leu | missense variant | - | NC_000012.12:g.104757311C>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Phe189Ser | missense variant | - | NC_000012.12:g.104757310T>C | NCI-TCGA |
rs763372855 | p.Glu190Lys | missense variant | - | NC_000012.12:g.104757312G>A | ExAC,TOPMed,gnomAD |
rs763372855 | p.Glu190Lys | missense variant | - | NC_000012.12:g.104757312G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs752158020 | p.Arg191Lys | missense variant | - | NC_000012.12:g.104757316G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Leu192Gln | missense variant | - | NC_000012.12:g.104757319T>A | NCI-TCGA |
rs1347070916 | p.Val193Met | missense variant | - | NC_000012.12:g.104757321G>A | gnomAD |
rs1278251473 | p.Ser194Pro | missense variant | - | NC_000012.12:g.104757324T>C | gnomAD |
rs200986753 | p.Ala195Thr | missense variant | - | NC_000012.12:g.104757327G>A | ExAC,gnomAD |
rs200986753 | p.Ala195Pro | missense variant | - | NC_000012.12:g.104757327G>C | ExAC,gnomAD |
rs142353826 | p.Arg197His | missense variant | - | NC_000012.12:g.104757334G>A | ESP,TOPMed,gnomAD |
rs201004289 | p.Gln202Arg | missense variant | - | NC_000012.12:g.104757349A>G | 1000Genomes,ExAC,gnomAD |
rs373587217 | p.Ile206Met | missense variant | - | NC_000012.12:g.104757362C>G | ESP,ExAC,TOPMed,gnomAD |
rs757081540 | p.Ile206Phe | missense variant | - | NC_000012.12:g.104757360A>T | ExAC,gnomAD |
NCI-TCGA novel | p.Phe208Ile | missense variant | - | NC_000012.12:g.104757366T>A | NCI-TCGA |
NCI-TCGA novel | p.His209ProPheSerTerUnkUnk | frameshift | - | NC_000012.12:g.104757365_104757366insT | NCI-TCGA |
rs745873622 | p.Arg211Leu | missense variant | - | NC_000012.12:g.104757376G>T | ExAC,TOPMed,gnomAD |
rs745873622 | p.Arg211Gln | missense variant | - | NC_000012.12:g.104757376G>A | ExAC,TOPMed,gnomAD |
rs1466133972 | p.Arg211Trp | missense variant | - | NC_000012.12:g.104757375C>T | gnomAD |
rs773612441 | p.Lys218Gln | missense variant | - | NC_000012.12:g.104757396A>C | ExAC,gnomAD |
rs766906152 | p.Arg219His | missense variant | - | NC_000012.12:g.104757400G>A | ExAC,gnomAD |
rs766906152 | p.Arg219Leu | missense variant | - | NC_000012.12:g.104757400G>T | ExAC,gnomAD |
rs763247584 | p.Arg219Cys | missense variant | - | NC_000012.12:g.104757399C>T | ExAC,TOPMed,gnomAD |
rs1313972477 | p.Gln220Arg | missense variant | - | NC_000012.12:g.104757403A>G | gnomAD |
rs1348803637 | p.Arg221Gln | missense variant | - | NC_000012.12:g.104757406G>A | gnomAD |
rs759962153 | p.Arg221Trp | missense variant | - | NC_000012.12:g.104757405C>T | ExAC,gnomAD |
rs144669669 | p.Lys222Glu | missense variant | - | NC_000012.12:g.104757408A>G | ESP,TOPMed |
rs148230565 | p.Ala224Thr | missense variant | - | NC_000012.12:g.104757414G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs148230565 | p.Ala224Pro | missense variant | - | NC_000012.12:g.104757414G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs755609952 | p.Ala224Val | missense variant | - | NC_000012.12:g.104757415C>T | ExAC,gnomAD |
rs187748990 | p.Ala228Val | missense variant | - | NC_000012.12:g.104757427C>T | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Ala228Gly | missense variant | - | NC_000012.12:g.104757427C>G | NCI-TCGA |
rs375679211 | p.Arg230Leu | missense variant | - | NC_000012.12:g.104757433G>T | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg230Cys | missense variant | - | NC_000012.12:g.104757432C>T | NCI-TCGA |
rs375679211 | p.Arg230His | missense variant | - | NC_000012.12:g.104757433G>A | ESP,ExAC,TOPMed,gnomAD |
rs770160219 | p.Asp234Asn | missense variant | - | NC_000012.12:g.104757444G>A | ExAC,TOPMed,gnomAD |
COSM4038200 | p.Val235Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757448T>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Phe237Leu | missense variant | - | NC_000012.12:g.104757455C>A | NCI-TCGA |
rs758294420 | p.Glu238Lys | missense variant | - | NC_000012.12:g.104757456G>A | ExAC,TOPMed,gnomAD |
rs1459696154 | p.Glu238Gly | missense variant | - | NC_000012.12:g.104757457A>G | gnomAD |
rs758294420 | p.Glu238Gln | missense variant | - | NC_000012.12:g.104757456G>C | ExAC,TOPMed,gnomAD |
COSM4038201 | p.Glu238Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757458G>T | NCI-TCGA Cosmic |
rs1481281701 | p.Val241Met | missense variant | - | NC_000012.12:g.104757465G>A | TOPMed |
rs780005312 | p.Tyr243Ser | missense variant | - | NC_000012.12:g.104757472A>C | ExAC,gnomAD |
rs746893347 | p.Ile245Val | missense variant | - | NC_000012.12:g.104757477A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ile245Asn | missense variant | - | NC_000012.12:g.104757478T>A | NCI-TCGA |
rs1306366889 | p.Asp246Gly | missense variant | - | NC_000012.12:g.104757481A>G | gnomAD |
rs1431608363 | p.Asp246Asn | missense variant | - | NC_000012.12:g.104757480G>A | gnomAD |
rs1334559199 | p.Arg251Gln | missense variant | - | NC_000012.12:g.104757496G>A | gnomAD |
rs1040579491 | p.Arg251Trp | missense variant | - | NC_000012.12:g.104757495C>T | TOPMed,gnomAD |
rs771207447 | p.Glu252Lys | missense variant | - | NC_000012.12:g.104757498G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Glu253Ala | missense variant | - | NC_000012.12:g.104757502A>C | NCI-TCGA |
COSM934266 | p.Glu253Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757503G>T | NCI-TCGA Cosmic |
rs1489092828 | p.Pro254Ser | missense variant | - | NC_000012.12:g.104757504C>T | gnomAD |
rs1489092828 | p.Pro254Thr | missense variant | - | NC_000012.12:g.104757504C>A | gnomAD |
rs1195791519 | p.Phe255Leu | missense variant | - | NC_000012.12:g.104757509C>A | TOPMed,gnomAD |
rs947193135 | p.Glu257Lys | missense variant | - | NC_000012.12:g.104757513G>A | TOPMed |
rs1473302019 | p.Trp259Arg | missense variant | - | NC_000012.12:g.104757519T>C | gnomAD |
rs1182404881 | p.Thr261Ile | missense variant | - | NC_000012.12:g.104757526C>T | TOPMed,gnomAD |
COSM4038202 | p.Thr261Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757525A>C | NCI-TCGA Cosmic |
rs776103813 | p.Val262Ile | missense variant | - | NC_000012.12:g.104757528G>A | ExAC,gnomAD |
rs1461393817 | p.CysHis266Ter | stop gained | - | NC_000012.12:g.104757542_104757543del | gnomAD |
rs1296431757 | p.His267Tyr | missense variant | - | NC_000012.12:g.104757543C>T | gnomAD |
rs1456930882 | p.His272Arg | missense variant | - | NC_000012.12:g.104757559A>G | TOPMed |
COSM3455375 | p.His272Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757558C>T | NCI-TCGA Cosmic |
rs900419455 | p.Asp274Val | missense variant | - | NC_000012.12:g.104757565A>T | TOPMed |
rs1039005602 | p.Asp274Asn | missense variant | - | NC_000012.12:g.104757564G>A | TOPMed,gnomAD |
rs1039005602 | p.Asp274His | missense variant | - | NC_000012.12:g.104757564G>C | TOPMed,gnomAD |
rs761468974 | p.Asp274Glu | missense variant | - | NC_000012.12:g.104757566C>G | ExAC,TOPMed,gnomAD |
rs764821818 | p.Leu275Phe | missense variant | - | NC_000012.12:g.104757567C>T | ExAC,TOPMed,gnomAD |
rs758257983 | p.Val276Met | missense variant | - | NC_000012.12:g.104757570G>A | ExAC,gnomAD |
rs779695030 | p.Tyr279Ter | stop gained | - | NC_000012.12:g.104757581C>A | ExAC,gnomAD |
COSM3967939 | p.Glu280Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757584G>C | NCI-TCGA Cosmic |
rs751574857 | p.Glu283Lys | missense variant | - | NC_000012.12:g.104757591G>A | ExAC,gnomAD |
COSM3416416 | p.Glu284Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757596G>T | NCI-TCGA Cosmic |
rs1273148539 | p.Asp285Glu | missense variant | - | NC_000012.12:g.104757599T>A | gnomAD |
NCI-TCGA novel | p.Asp285Gly | missense variant | - | NC_000012.12:g.104757598A>G | NCI-TCGA |
rs150778990 | p.Val289Ile | missense variant | - | NC_000012.12:g.104757609G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1482069541 | p.Ala293Ser | missense variant | - | NC_000012.12:g.104757621G>T | gnomAD |
rs1183278790 | p.Gly294Arg | missense variant | - | NC_000012.12:g.104757624G>A | gnomAD |
NCI-TCGA novel | p.Pro302Ser | missense variant | - | NC_000012.12:g.104757648C>T | NCI-TCGA |
COSM3455376 | p.Pro302Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757649C>T | NCI-TCGA Cosmic |
rs779155570 | p.Thr303Pro | missense variant | - | NC_000012.12:g.104757651A>C | ExAC,gnomAD |
rs1378459312 | p.Thr303Ile | missense variant | - | NC_000012.12:g.104757652C>T | TOPMed,gnomAD |
rs1237957348 | p.Lys306Arg | missense variant | - | NC_000012.12:g.104757661A>G | gnomAD |
NCI-TCGA novel | p.Thr308Met | missense variant | - | NC_000012.12:g.104757667C>T | NCI-TCGA |
rs746045401 | p.Thr308Pro | missense variant | - | NC_000012.12:g.104757666A>C | ExAC,TOPMed,gnomAD |
rs746045401 | p.Thr308Ala | missense variant | - | NC_000012.12:g.104757666A>G | ExAC,TOPMed,gnomAD |
rs772534949 | p.Glu313Asp | missense variant | - | NC_000012.12:g.104757683A>C | ExAC,gnomAD |
COSM3792124 | p.Glu313Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757681G>A | NCI-TCGA Cosmic |
rs1434649038 | p.Met314Ile | missense variant | - | NC_000012.12:g.104757686G>T | TOPMed |
rs761251103 | p.Glu317Asp | missense variant | - | NC_000012.12:g.104757695A>C | ExAC,gnomAD |
rs775701869 | p.Glu317Ter | stop gained | - | NC_000012.12:g.104757693G>T | ExAC |
NCI-TCGA novel | p.Phe318Leu | missense variant | - | NC_000012.12:g.104757698C>A | NCI-TCGA |
rs1023049855 | p.Ile322Val | missense variant | - | NC_000012.12:g.104757708A>G | TOPMed |
rs529714210 | p.Glu325Asp | missense variant | - | NC_000012.12:g.104757719G>C | TOPMed |
rs1322946006 | p.Glu325Gly | missense variant | - | NC_000012.12:g.104757718A>G | TOPMed |
NCI-TCGA novel | p.Glu325Ter | stop gained | - | NC_000012.12:g.104757717G>T | NCI-TCGA |
rs1374991787 | p.His326Asn | missense variant | - | NC_000012.12:g.104757720C>A | gnomAD |
rs769094029 | p.His326Gln | missense variant | - | NC_000012.12:g.104757722C>G | ExAC,gnomAD |
rs1374991787 | p.His326Tyr | missense variant | - | NC_000012.12:g.104757720C>T | gnomAD |
rs776141915 | p.Gln327Lys | missense variant | - | NC_000012.12:g.104757723C>A | ExAC,gnomAD |
rs887814138 | p.Thr328Met | missense variant | - | NC_000012.12:g.104757727C>T | TOPMed,gnomAD |
rs764698900 | p.Gln329Leu | missense variant | - | NC_000012.12:g.104757730A>T | ExAC,TOPMed,gnomAD |
COSM691500 | p.Tyr331Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757736A>G | NCI-TCGA Cosmic |
rs139158533 | p.Glu332Lys | missense variant | - | NC_000012.12:g.104757738G>A | ESP,ExAC,TOPMed,gnomAD |
rs1309982184 | p.Val333Ala | missense variant | - | NC_000012.12:g.104757742T>C | gnomAD |
NCI-TCGA novel | p.Asp337Asn | missense variant | - | NC_000012.12:g.104757753G>A | NCI-TCGA |
rs751243533 | p.Met340Thr | missense variant | - | NC_000012.12:g.104757763T>C | ExAC,gnomAD |
COSM934268 | p.Asn342Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757770T>G | NCI-TCGA Cosmic |
COSM274547 | p.Tyr343Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.104757772A>G | NCI-TCGA Cosmic |
rs754975544 | p.Ser344Pro | missense variant | - | NC_000012.12:g.104757774T>C | ExAC,gnomAD |
rs754001693 | p.Leu351Trp | missense variant | - | NC_000012.12:g.104757796T>G | ExAC,TOPMed,gnomAD |