NCI-TCGA novel | p.Ile4Asn | missense variant | - | NC_000004.12:g.39521502A>T | NCI-TCGA |
rs767490233 | p.Lys6Arg | missense variant | - | NC_000004.12:g.39521496T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Lys6Asn | missense variant | - | NC_000004.12:g.39521495C>A | NCI-TCGA |
rs761771847 | p.Ile7Leu | missense variant | - | NC_000004.12:g.39521494T>G | ExAC,gnomAD |
rs761771847 | p.Ile7Phe | missense variant | - | NC_000004.12:g.39521494T>A | ExAC,gnomAD |
rs773970612 | p.Cys9Phe | missense variant | - | NC_000004.12:g.39521487C>A | ExAC,gnomAD |
rs759610662 | p.Gly13Asp | missense variant | - | NC_000004.12:g.39521475C>T | ExAC,gnomAD |
rs369608407 | p.Tyr14Cys | missense variant | - | NC_000004.12:g.39521472T>C | ESP,ExAC,gnomAD |
rs369608407 | p.Tyr14Cys | missense variant | - | NC_000004.12:g.39521472T>C | NCI-TCGA |
rs773827332 | p.Cys20Tyr | missense variant | - | NC_000004.12:g.39521454C>T | ExAC,TOPMed,gnomAD |
rs772663434 | p.Ile23Val | missense variant | - | NC_000004.12:g.39521446T>C | ExAC,gnomAD |
rs1306655122 | p.Ala24Ser | missense variant | - | NC_000004.12:g.39521443C>A | TOPMed |
rs947588957 | p.Met26Thr | missense variant | - | NC_000004.12:g.39521436A>G | TOPMed,gnomAD |
rs947588957 | p.Met26Lys | missense variant | - | NC_000004.12:g.39521436A>T | TOPMed,gnomAD |
rs779084607 | p.Arg31Lys | missense variant | - | NC_000004.12:g.39521421C>T | ExAC,gnomAD |
rs1025047581 | p.Val32Ile | missense variant | - | NC_000004.12:g.39521419C>T | TOPMed |
rs145763615 | p.Thr33Met | missense variant | - | NC_000004.12:g.39521415G>A | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Val34Ile | missense variant | - | NC_000004.12:g.39521413C>T | NCI-TCGA |
rs1299204864 | p.Val35Ile | missense variant | - | NC_000004.12:g.39521410C>T | gnomAD |
rs928688123 | p.Asn38Ser | missense variant | - | NC_000004.12:g.39521400T>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Asn38Asp | missense variant | - | NC_000004.12:g.39521401T>C | NCI-TCGA |
COSM258308 | p.Glu39Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000004.12:g.39521398C>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ile42Asn | missense variant | - | NC_000004.12:g.39521388A>T | NCI-TCGA |
rs1253201158 | p.Asn43Ser | missense variant | - | NC_000004.12:g.39521385T>C | TOPMed |
rs749975104 | p.Ala44Val | missense variant | - | NC_000004.12:g.39521382G>A | ExAC,TOPMed,gnomAD |
rs1388970611 | p.Asn46Asp | missense variant | - | NC_000004.12:g.39521377T>C | gnomAD |
NCI-TCGA novel | p.Ser47Tyr | missense variant | - | NC_000004.12:g.39521373G>T | NCI-TCGA |
rs763792474 | p.Leu50Val | missense variant | - | NC_000004.12:g.39521365G>C | ExAC,gnomAD |
rs762867803 | p.Ile52Val | missense variant | - | NC_000004.12:g.39521359T>C | ExAC,gnomAD |
rs752500252 | p.Pro55Ser | missense variant | - | NC_000004.12:g.39514184G>A | ExAC,gnomAD |
rs765143424 | p.Glu59Asp | missense variant | - | NC_000004.12:g.39514170T>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu59Lys | missense variant | - | NC_000004.12:g.39514172C>T | NCI-TCGA |
rs760920354 | p.Val61Ile | missense variant | - | NC_000004.12:g.39514166C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Ser63Phe | missense variant | - | NC_000004.12:g.39514159G>A | NCI-TCGA |
rs200059198 | p.Arg65Ter | stop gained | - | NC_000004.12:g.39514154G>A | ExAC,TOPMed,gnomAD |
rs767697391 | p.Arg65Gln | missense variant | - | NC_000004.12:g.39514153C>T | ExAC,TOPMed,gnomAD |
rs140219602 | p.Leu69Ile | missense variant | - | NC_000004.12:g.39514142G>T | ESP,ExAC,gnomAD |
COSM1231666 | p.Phe71Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39514134A>C | NCI-TCGA Cosmic |
rs769243823 | p.Ser72Pro | missense variant | - | NC_000004.12:g.39514133A>G | ExAC,TOPMed,gnomAD |
rs765734647 | p.Ser72LeuPheSerTerUnkUnk | frameshift | - | NC_000004.12:g.39514133A>- | NCI-TCGA,NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser72Tyr | missense variant | - | NC_000004.12:g.39514132G>T | NCI-TCGA |
rs1446226540 | p.Thr73Ser | missense variant | - | NC_000004.12:g.39514129G>C | gnomAD |
rs775776023 | p.Asn74Ser | missense variant | - | NC_000004.12:g.39514126T>C | ExAC,TOPMed,gnomAD |
rs1489618454 | p.Asp76Tyr | missense variant | - | NC_000004.12:g.39514121C>A | gnomAD |
COSM6167101 | p.Asp76Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39514121C>T | NCI-TCGA Cosmic |
rs745515782 | p.Ala78Thr | missense variant | - | NC_000004.12:g.39514115C>T | ExAC,TOPMed,gnomAD |
rs776324809 | p.Ile79Val | missense variant | - | NC_000004.12:g.39514112T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Glu81Ter | stop gained | - | NC_000004.12:g.39514106C>A | NCI-TCGA |
NCI-TCGA novel | p.Ala82Thr | missense variant | - | NC_000004.12:g.39514103C>T | NCI-TCGA |
rs777181206 | p.Asp83Asn | missense variant | - | NC_000004.12:g.39514100C>T | ExAC,gnomAD |
rs777181206 | p.Asp83His | missense variant | - | NC_000004.12:g.39514100C>G | ExAC,gnomAD |
rs1260873652 | p.Asp83Gly | missense variant | - | NC_000004.12:g.39514099T>C | TOPMed |
rs187460266 | p.Val85Ile | missense variant | - | NC_000004.12:g.39514094C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs187460266 | p.Val85Leu | missense variant | - | NC_000004.12:g.39514094C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser88Tyr | missense variant | - | NC_000004.12:g.39514084G>T | NCI-TCGA |
rs113565151 | p.Asn90Thr | missense variant | - | NC_000004.12:g.39510857T>G | ExAC,gnomAD |
rs113565151 | p.Asn90Ser | missense variant | - | NC_000004.12:g.39510857T>C | ExAC,gnomAD |
rs1389276038 | p.Pro92Ser | missense variant | - | NC_000004.12:g.39510852G>A | gnomAD |
rs1400737927 | p.Thr93Arg | missense variant | - | NC_000004.12:g.39510848G>C | gnomAD |
rs1172635390 | p.Lys94Asn | missense variant | - | NC_000004.12:g.39510844T>A | gnomAD |
COSM4124605 | p.Thr95Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39510842G>T | NCI-TCGA Cosmic |
rs375953801 | p.Tyr96Cys | missense variant | - | NC_000004.12:g.39510839T>C | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Met98Thr | missense variant | - | NC_000004.12:g.39510833A>G | NCI-TCGA |
rs1428096648 | p.Lys100Asn | missense variant | - | NC_000004.12:g.39510826T>G | gnomAD |
rs779742282 | p.Arg102Trp | missense variant | - | NC_000004.12:g.39510822G>A | ExAC,gnomAD |
rs757450293 | p.Arg102Gln | missense variant | - | NC_000004.12:g.39510821C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg102Leu | missense variant | - | NC_000004.12:g.39510821C>A | NCI-TCGA |
rs1420419492 | p.Ala104Val | missense variant | - | NC_000004.12:g.39510815G>A | TOPMed,gnomAD |
rs751736713 | p.Lys107Ter | stop gained | - | NC_000004.12:g.39510807T>A | ExAC,gnomAD |
rs568964757 | p.Ala111Val | missense variant | - | NC_000004.12:g.39510794G>A | 1000Genomes,ExAC,gnomAD |
rs202045254 | p.Arg115His | missense variant | - | NC_000004.12:g.39510782C>T | ESP,ExAC,TOPMed,gnomAD |
rs140504706 | p.Arg115Cys | missense variant | - | NC_000004.12:g.39510783G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs202045254 | p.Arg115Leu | missense variant | - | NC_000004.12:g.39510782C>A | ESP,ExAC,TOPMed,gnomAD |
rs1263944470 | p.Val117Leu | missense variant | - | NC_000004.12:g.39510777C>G | gnomAD |
rs1221194267 | p.Gln118Arg | missense variant | - | NC_000004.12:g.39510773T>C | TOPMed,gnomAD |
rs1221194267 | p.Gln118Leu | missense variant | - | NC_000004.12:g.39510773T>A | TOPMed,gnomAD |
rs1371247878 | p.Asn119Asp | missense variant | - | NC_000004.12:g.39510771T>C | gnomAD |
rs766669367 | p.Asn121Asp | missense variant | - | NC_000004.12:g.39510765T>C | ExAC,TOPMed,gnomAD |
rs766669367 | p.Asn121His | missense variant | - | NC_000004.12:g.39510765T>G | ExAC,TOPMed,gnomAD |
rs1333300842 | p.Lys124Glu | missense variant | - | NC_000004.12:g.39510756T>C | gnomAD |
rs760304916 | p.Ile125Met | missense variant | - | NC_000004.12:g.39510751A>C | ExAC,gnomAD |
rs1405123351 | p.Thr127Pro | missense variant | - | NC_000004.12:g.39510747T>G | gnomAD |
rs111337616 | p.Val132Ile | missense variant | - | NC_000004.12:g.39510732C>T | TOPMed |
rs771593403 | p.Val132Gly | missense variant | - | NC_000004.12:g.39510731A>C | ExAC,gnomAD |
rs111337616 | p.Val132Phe | missense variant | - | NC_000004.12:g.39510732C>A | TOPMed |
rs761454872 | p.Pro133Leu | missense variant | - | NC_000004.12:g.39510728G>A | ExAC,TOPMed,gnomAD |
COSM265754 | p.Pro133Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39510729G>A | NCI-TCGA Cosmic |
rs1439780087 | p.Val134Ala | missense variant | - | NC_000004.12:g.39510725A>G | gnomAD |
rs1439780087 | p.Val134Gly | missense variant | - | NC_000004.12:g.39510725A>C | gnomAD |
rs768674438 | p.Arg135Trp | missense variant | - | NC_000004.12:g.39510723G>A | ExAC,gnomAD |
rs1182319939 | p.Arg135Gln | missense variant | - | NC_000004.12:g.39510722C>T | gnomAD |
NCI-TCGA novel | p.Glu138Gly | missense variant | - | NC_000004.12:g.39510713T>C | NCI-TCGA |
rs749259185 | p.Ile140Val | missense variant | - | NC_000004.12:g.39510708T>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ile140Leu | missense variant | - | NC_000004.12:g.39510708T>G | NCI-TCGA |
rs769545929 | p.Arg141His | missense variant | - | NC_000004.12:g.39510704C>T | ExAC,TOPMed,gnomAD |
rs115137663 | p.Arg141Cys | missense variant | - | NC_000004.12:g.39510705G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs769545929 | p.Arg141Leu | missense variant | - | NC_000004.12:g.39510704C>A | ExAC,TOPMed,gnomAD |
rs747242250 | p.Arg142Cys | missense variant | - | NC_000004.12:g.39510702G>A | ExAC,TOPMed,gnomAD |
rs368044471 | p.Arg142His | missense variant | - | NC_000004.12:g.39510701C>T | ExAC,gnomAD |
rs1355977627 | p.Ile143Val | missense variant | - | NC_000004.12:g.39510699T>C | gnomAD |
rs1450410640 | p.Asp145Val | missense variant | - | NC_000004.12:g.39510692T>A | gnomAD |
rs1381741430 | p.Ala146Gly | missense variant | - | NC_000004.12:g.39510689G>C | gnomAD |
COSM6100002 | p.Ala146Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39510689G>A | NCI-TCGA Cosmic |
rs752737840 | p.Thr148Ala | missense variant | - | NC_000004.12:g.39510684T>C | ExAC,gnomAD |
rs778991709 | p.Asn151Thr | missense variant | - | NC_000004.12:g.39510674T>G | ExAC,gnomAD |
rs754301626 | p.Leu154Phe | missense variant | - | NC_000004.12:g.39510664T>G | ExAC,gnomAD |
NCI-TCGA novel | p.Leu154Val | missense variant | - | NC_000004.12:g.39510666A>C | NCI-TCGA |
rs1381665298 | p.Gln155Ter | stop gained | - | NC_000004.12:g.39510663G>A | gnomAD |
rs766757605 | p.Gln155Arg | missense variant | - | NC_000004.12:g.39510662T>C | ExAC,gnomAD |
rs375062099 | p.Asn159Ser | missense variant | - | NC_000004.12:g.39510540T>C | ESP,ExAC,TOPMed,gnomAD |
rs772235942 | p.Pro160Ser | missense variant | - | NC_000004.12:g.39510538G>A | ExAC,gnomAD |
rs1427070347 | p.Ala164Glu | missense variant | - | NC_000004.12:g.39510525G>T | gnomAD |
rs748387130 | p.Gly166Ter | stop gained | - | NC_000004.12:g.39510520C>A | ExAC,gnomAD |
rs755113560 | p.Thr167Ile | missense variant | - | NC_000004.12:g.39510516G>A | ExAC,gnomAD |
rs908289507 | p.Lys170Arg | missense variant | - | NC_000004.12:g.39510507T>C | gnomAD |
rs1288573479 | p.Asp171Asn | missense variant | - | NC_000004.12:g.39510505C>T | gnomAD |
NCI-TCGA novel | p.Asn174Ser | missense variant | - | NC_000004.12:g.39510495T>C | NCI-TCGA |
rs756467468 | p.Pro175Thr | missense variant | - | NC_000004.12:g.39510493G>T | ExAC,gnomAD |
rs1305524531 | p.Asp176Glu | missense variant | - | NC_000004.12:g.39510488G>C | gnomAD |
rs1223728130 | p.Asp176Gly | missense variant | - | NC_000004.12:g.39510489T>C | gnomAD |
rs768014546 | p.Ile180Thr | missense variant | - | NC_000004.12:g.39510477A>G | ExAC,gnomAD |
rs527756813 | p.Gly182Arg | missense variant | - | NC_000004.12:g.39510472C>T | 1000Genomes,ExAC,gnomAD |
rs948466547 | p.Thr185Ile | missense variant | - | NC_000004.12:g.39510462G>A | TOPMed |
COSM6167102 | p.Pro186Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39510460G>C | NCI-TCGA Cosmic |
rs1282156495 | p.Gln189Arg | missense variant | - | NC_000004.12:g.39510450T>C | TOPMed |
rs751260541 | p.Arg190Ile | missense variant | - | NC_000004.12:g.39510447C>A | ExAC,TOPMed,gnomAD |
rs763685293 | p.Ala191Ser | missense variant | - | NC_000004.12:g.39510445C>A | ExAC,TOPMed,gnomAD |
rs894232451 | p.Gln193Ter | stop gained | - | NC_000004.12:g.39510439G>A | TOPMed |
rs144192248 | p.Ala194Val | missense variant | - | NC_000004.12:g.39510435G>A | ESP,ExAC,gnomAD |
rs1443799790 | p.Ala194Thr | missense variant | - | NC_000004.12:g.39510436C>T | gnomAD |
rs1171919565 | p.Leu195Pro | missense variant | - | NC_000004.12:g.39510432A>G | gnomAD |
rs775468206 | p.Cys196Trp | missense variant | - | NC_000004.12:g.39510428A>C | ExAC,gnomAD |
rs1427393045 | p.Val198Ile | missense variant | - | NC_000004.12:g.39510424C>T | gnomAD |
rs1463142555 | p.Glu200Asp | missense variant | - | NC_000004.12:g.39510416C>A | TOPMed |
rs1199000393 | p.His201Arg | missense variant | - | NC_000004.12:g.39510414T>C | TOPMed,gnomAD |
rs765048353 | p.His201Gln | missense variant | - | NC_000004.12:g.39510413G>T | ExAC,TOPMed,gnomAD |
rs1054657510 | p.Val203Ile | missense variant | - | NC_000004.12:g.39510409C>T | TOPMed |
rs933655472 | p.Arg205Thr | missense variant | - | NC_000004.12:g.39510402C>G | gnomAD |
rs778486297 | p.Glu206Gly | missense variant | - | NC_000004.12:g.39510399T>C | TOPMed |
rs776235593 | p.Ile208Phe | missense variant | - | NC_000004.12:g.39510394T>A | ExAC,gnomAD |
rs770721281 | p.Thr211Asn | missense variant | - | NC_000004.12:g.39510384G>T | ExAC,gnomAD |
rs1319762440 | p.Asn212Asp | missense variant | - | NC_000004.12:g.39510382T>C | gnomAD |
rs774610502 | p.Ser216Ter | stop gained | - | NC_000004.12:g.39510369G>T | ExAC,gnomAD |
rs1352368485 | p.Ala223Glu | missense variant | - | NC_000004.12:g.39509903G>T | gnomAD |
NCI-TCGA novel | p.Leu227Val | missense variant | - | NC_000004.12:g.39509892G>C | NCI-TCGA |
rs1450230376 | p.Ala228Ser | missense variant | - | NC_000004.12:g.39509889C>A | TOPMed |
rs1243008711 | p.Gln229Lys | missense variant | - | NC_000004.12:g.39509886G>T | gnomAD |
NCI-TCGA novel | p.Gln229His | missense variant | - | NC_000004.12:g.39509884C>A | NCI-TCGA |
rs763881954 | p.Ile234Val | missense variant | - | NC_000004.12:g.39509871T>C | ExAC,gnomAD |
rs1396973439 | p.Ile237Met | missense variant | - | NC_000004.12:g.39509860T>C | gnomAD |
rs1333993203 | p.Ile237Val | missense variant | - | NC_000004.12:g.39509862T>C | TOPMed,gnomAD |
rs1287358288 | p.Leu240Met | missense variant | - | NC_000004.12:g.39509853G>T | gnomAD |
rs1453094335 | p.Thr244Ala | missense variant | - | NC_000004.12:g.39509841T>C | gnomAD |
NCI-TCGA novel | p.Thr244Arg | missense variant | - | NC_000004.12:g.39509840G>C | NCI-TCGA |
rs139554286 | p.Asp247Val | missense variant | - | NC_000004.12:g.39509831T>A | ESP,ExAC,TOPMed |
rs1413039249 | p.Asp247Glu | missense variant | - | NC_000004.12:g.39509830A>T | TOPMed,gnomAD |
rs1457035532 | p.Asp247Asn | missense variant | - | NC_000004.12:g.39509832C>T | gnomAD |
rs1159158609 | p.Ala252Thr | missense variant | - | NC_000004.12:g.39509817C>T | gnomAD |
rs1186496501 | p.Ile255Thr | missense variant | - | NC_000004.12:g.39509807A>G | gnomAD |
rs759328854 | p.Met257Lys | missense variant | - | NC_000004.12:g.39509801A>T | ExAC,TOPMed,gnomAD |
COSM733508 | p.Gln259His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39509794C>A | NCI-TCGA Cosmic |
rs766146242 | p.Ala268Ser | missense variant | - | NC_000004.12:g.39509769C>A | ExAC,gnomAD |
rs760508476 | p.Ser269Asn | missense variant | - | NC_000004.12:g.39509765C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Ser275Asn | missense variant | - | NC_000004.12:g.39508648C>T | NCI-TCGA |
rs1273664472 | p.Gln278Arg | missense variant | - | NC_000004.12:g.39508639T>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Val281Gly | missense variant | - | NC_000004.12:g.39508630A>C | NCI-TCGA |
rs1423831672 | p.Asn283Asp | missense variant | - | NC_000004.12:g.39508625T>C | gnomAD |
rs985297316 | p.Cys288Tyr | missense variant | - | NC_000004.12:g.39508609C>T | gnomAD |
rs776883283 | p.Ala290Val | missense variant | - | NC_000004.12:g.39508603G>A | ExAC,gnomAD |
rs199986130 | p.Arg298Cys | missense variant | - | NC_000004.12:g.39508580G>A | ExAC,TOPMed,gnomAD |
rs968491131 | p.Arg298His | missense variant | - | NC_000004.12:g.39508579C>T | TOPMed,gnomAD |
rs1464295100 | p.Ile304Thr | missense variant | - | NC_000004.12:g.39505744A>G | gnomAD |
rs1239397498 | p.Ile304Val | missense variant | - | NC_000004.12:g.39505745T>C | gnomAD |
rs1159032166 | p.Met306Arg | missense variant | - | NC_000004.12:g.39505738A>C | TOPMed |
NCI-TCGA novel | p.Asp308Ala | missense variant | - | NC_000004.12:g.39505732T>G | NCI-TCGA |
NCI-TCGA novel | p.Asp308Tyr | missense variant | - | NC_000004.12:g.39505733C>A | NCI-TCGA |
rs1333198828 | p.Tyr309His | missense variant | - | NC_000004.12:g.39505730A>G | gnomAD |
NCI-TCGA novel | p.Arg312Ser | missense variant | - | NC_000004.12:g.39505719C>A | NCI-TCGA |
rs1317015589 | p.Arg313Lys | missense variant | - | NC_000004.12:g.39505717C>T | TOPMed |
NCI-TCGA novel | p.Arg313Met | missense variant | - | NC_000004.12:g.39505717C>A | NCI-TCGA |
rs775162839 | p.Arg317Gln | missense variant | - | NC_000004.12:g.39505705C>T | ExAC,TOPMed,gnomAD |
rs779173046 | p.Arg317Trp | missense variant | - | NC_000004.12:g.39505706G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Asp320ValPheSerTerUnk | frameshift | - | NC_000004.12:g.39505693_39505696CTAT>- | NCI-TCGA |
NCI-TCGA novel | p.Thr327Ser | missense variant | - | NC_000004.12:g.39505675G>C | NCI-TCGA |
rs1287204329 | p.Lys329Asn | missense variant | - | NC_000004.12:g.39505668C>G | TOPMed |
rs755687279 | p.Ile333Leu | missense variant | - | NC_000004.12:g.39505658T>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ile333Phe | missense variant | - | NC_000004.12:g.39505658T>A | NCI-TCGA |
rs973256107 | p.Gly335Arg | missense variant | - | NC_000004.12:g.39505652C>T | gnomAD |
rs1203959093 | p.Thr342Ser | missense variant | - | NC_000004.12:g.39505630G>C | TOPMed |
rs1283606237 | p.Asp344Asn | missense variant | - | NC_000004.12:g.39505625C>T | TOPMed |
COSM3917751 | p.Arg346Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39505618C>T | NCI-TCGA Cosmic |
rs1290408243 | p.Ser350Asn | missense variant | - | NC_000004.12:g.39505359C>T | gnomAD |
rs1479782965 | p.Met358Thr | missense variant | - | NC_000004.12:g.39505335A>G | TOPMed |
COSM6167103 | p.Glu360Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39505330C>T | NCI-TCGA Cosmic |
rs769271659 | p.Ala362Thr | missense variant | - | NC_000004.12:g.39505324C>T | ExAC,gnomAD |
rs10010387 | p.His363Arg | missense variant | - | NC_000004.12:g.39505320T>C | ExAC,TOPMed,gnomAD |
rs543523320 | p.Leu364Val | missense variant | - | NC_000004.12:g.39505318G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs746926346 | p.His365Leu | missense variant | - | NC_000004.12:g.39505314T>A | ExAC,gnomAD |
rs1423124119 | p.His365Gln | missense variant | - | NC_000004.12:g.39505313A>T | gnomAD |
NCI-TCGA novel | p.Tyr367Cys | missense variant | - | NC_000004.12:g.39505308T>C | NCI-TCGA |
NCI-TCGA novel | p.Pro369Arg | missense variant | - | NC_000004.12:g.39505302G>C | NCI-TCGA |
NCI-TCGA novel | p.Pro369Leu | missense variant | - | NC_000004.12:g.39505302G>A | NCI-TCGA |
rs1171698535 | p.Lys370Glu | missense variant | - | NC_000004.12:g.39505300T>C | TOPMed,gnomAD |
rs777622665 | p.Lys370Thr | missense variant | - | NC_000004.12:g.39505299T>G | ExAC,gnomAD |
COSM1429637 | p.Val371TyrPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000004.12:g.39505298T>- | NCI-TCGA Cosmic |
rs1370929186 | p.Val378Met | missense variant | - | NC_000004.12:g.39505276C>T | TOPMed |
rs1461226039 | p.Ser381Tyr | missense variant | - | NC_000004.12:g.39505266G>T | TOPMed |
COSM420592 | p.Ser381Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39505266G>A | NCI-TCGA Cosmic |
rs766743798 | p.His382Gln | missense variant | - | NC_000004.12:g.39505262A>C | ExAC |
rs750465337 | p.Gly384Val | missense variant | - | NC_000004.12:g.39505257C>A | ExAC,gnomAD |
rs182948898 | p.Gly384Arg | missense variant | - | NC_000004.12:g.39505258C>G | 1000Genomes,gnomAD |
rs182948898 | p.Gly384Ser | missense variant | - | NC_000004.12:g.39505258C>T | 1000Genomes,gnomAD |
rs372994324 | p.Val385Ile | missense variant | - | NC_000004.12:g.39505255C>T | ESP,ExAC,TOPMed,gnomAD |
rs762313199 | p.Ser386Ter | stop gained | - | NC_000004.12:g.39505251G>T | ExAC,gnomAD |
rs1407273373 | p.Asp389Gly | missense variant | - | NC_000004.12:g.39505242T>C | TOPMed |
rs774785564 | p.Gln390His | missense variant | - | NC_000004.12:g.39505238T>G | ExAC,gnomAD |
rs113094436 | p.Arg393Trp | missense variant | - | NC_000004.12:g.39504503G>A | 1000Genomes,ExAC,gnomAD |
rs1481372223 | p.Arg393Gln | missense variant | - | NC_000004.12:g.39504502C>T | gnomAD |
rs1420139288 | p.Leu394Pro | missense variant | - | NC_000004.12:g.39504499A>G | gnomAD |
rs752083244 | p.Val395Met | missense variant | - | NC_000004.12:g.39504497C>T | ExAC,TOPMed,gnomAD |
rs763473129 | p.Lys399Thr | missense variant | - | NC_000004.12:g.39504484T>G | ExAC,TOPMed,gnomAD |
rs763473129 | p.Lys399Arg | missense variant | - | NC_000004.12:g.39504484T>C | ExAC,TOPMed,gnomAD |
rs770011021 | p.Asp400Val | missense variant | - | NC_000004.12:g.39504481T>A | TOPMed |
rs1238675111 | p.Asp400Asn | missense variant | - | NC_000004.12:g.39504482C>T | TOPMed,gnomAD |
rs770011021 | p.Asp400Gly | missense variant | - | NC_000004.12:g.39504481T>C | TOPMed |
rs899094826 | p.Tyr402His | missense variant | - | NC_000004.12:g.39504476A>G | TOPMed |
rs753003368 | p.Asp406Gly | missense variant | - | NC_000004.12:g.39504463T>C | ExAC,gnomAD |
rs765591985 | p.Gly407Asp | missense variant | - | NC_000004.12:g.39504460C>T | ExAC,TOPMed,gnomAD |
rs776207068 | p.Ala408Thr | missense variant | - | NC_000004.12:g.39504458C>T | ExAC,TOPMed,gnomAD |
rs776207068 | p.Ala408Ser | missense variant | - | NC_000004.12:g.39504458C>A | ExAC,TOPMed,gnomAD |
rs770456604 | p.Ala410Ser | missense variant | - | NC_000004.12:g.39504452C>A | ExAC,TOPMed,gnomAD |
COSM3674176 | p.Ile413Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39504442A>G | NCI-TCGA Cosmic |
rs1361014385 | p.Glu416Ter | stop gained | - | NC_000004.12:g.39504434C>A | gnomAD |
rs141970383 | p.Glu416Asp | missense variant | - | NC_000004.12:g.39504432C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Trp417Cys | missense variant | - | NC_000004.12:g.39504429C>A | NCI-TCGA |
NCI-TCGA novel | p.Trp417Leu | missense variant | - | NC_000004.12:g.39504430C>A | NCI-TCGA |
rs1437820312 | p.Met419Val | missense variant | - | NC_000004.12:g.39504425T>C | gnomAD |
rs371662600 | p.Met419Ile | missense variant | - | NC_000004.12:g.39504423C>T | ESP,ExAC,TOPMed,gnomAD |
COSM286270 | p.Lys421Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39504417C>A | NCI-TCGA Cosmic |
rs370295255 | p.Glu422Gly | missense variant | - | NC_000004.12:g.39503984T>C | ESP,ExAC,TOPMed,gnomAD |
rs772787684 | p.Glu422Lys | missense variant | - | NC_000004.12:g.39503985C>T | ExAC,gnomAD |
rs922278383 | p.Glu426Lys | missense variant | - | NC_000004.12:g.39503973C>T | gnomAD |
rs148161041 | p.Arg427Cys | missense variant | - | NC_000004.12:g.39503970G>A | ESP,ExAC,TOPMed,gnomAD |
rs768474926 | p.Arg427His | missense variant | - | NC_000004.12:g.39503969C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.His429Ter | frameshift | - | NC_000004.12:g.39503952_39503964GCATTTTTTTATG>- | NCI-TCGA |
rs147122976 | p.Lys431Arg | missense variant | - | NC_000004.12:g.39503957T>C | ESP,ExAC,TOPMed,gnomAD |
rs774133578 | p.Met432CysPheSerTerUnk | frameshift | - | NC_000004.12:g.39503955T>- | NCI-TCGA,NCI-TCGA Cosmic |
NCI-TCGA novel | p.Met432AsnPheSerTerUnkUnk | frameshift | - | NC_000004.12:g.39503954_39503955insT | NCI-TCGA |
rs1318866802 | p.Pro435Ala | missense variant | - | NC_000004.12:g.39503946G>C | gnomAD |
rs1162365973 | p.Phe437Ser | missense variant | - | NC_000004.12:g.39503939A>G | gnomAD |
rs1388307521 | p.Phe437Val | missense variant | - | NC_000004.12:g.39503940A>C | gnomAD |
rs754871857 | p.Ile438Val | missense variant | - | NC_000004.12:g.39503937T>C | ExAC,TOPMed,gnomAD |
rs777823955 | p.Asp440Asn | missense variant | - | NC_000004.12:g.39503931C>T | ExAC,gnomAD |
rs201894374 | p.Arg442Trp | missense variant | - | NC_000004.12:g.39503925G>A | 1000Genomes,gnomAD |
rs1195945550 | p.Arg443Cys | missense variant | - | NC_000004.12:g.39503922G>A | gnomAD |
rs1053767552 | p.Arg443His | missense variant | - | NC_000004.12:g.39503921C>T | TOPMed |
rs1053767552 | p.Arg443His | missense variant | - | NC_000004.12:g.39503921C>T | NCI-TCGA Cosmic |
rs748628569 | p.Val444Leu | missense variant | - | NC_000004.12:g.39503919C>G | ExAC,gnomAD |
COSM1485950 | p.Asp446Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39503913C>T | NCI-TCGA Cosmic |
rs1259165663 | p.Gly447Arg | missense variant | - | NC_000004.12:g.39503910C>T | TOPMed |
NCI-TCGA novel | p.Leu448Arg | missense variant | - | NC_000004.12:g.39503906A>C | NCI-TCGA |
rs779324355 | p.His449Leu | missense variant | - | NC_000004.12:g.39503903T>A | ExAC,TOPMed,gnomAD |
rs137877647 | p.Asn450Thr | missense variant | - | NC_000004.12:g.39503900T>G | ESP,TOPMed,gnomAD |
rs137877647 | p.Asn450Ser | missense variant | - | NC_000004.12:g.39503900T>C | ESP,TOPMed,gnomAD |
rs1256363149 | p.Glu451Val | missense variant | - | NC_000004.12:g.39503897T>A | gnomAD |
rs766784095 | p.Gln453His | missense variant | - | NC_000004.12:g.39503890T>G | ExAC,gnomAD |
rs371132377 | p.Gln453Ter | stop gained | - | NC_000004.12:g.39503892G>A | ESP,ExAC,gnomAD |
rs755764491 | p.Ile455Thr | missense variant | - | NC_000004.12:g.39503885A>G | ExAC,TOPMed,gnomAD |
rs934953491 | p.Ile455Val | missense variant | - | NC_000004.12:g.39503886T>C | TOPMed |
rs755764491 | p.Ile455Thr | missense variant | - | NC_000004.12:g.39503885A>G | NCI-TCGA,NCI-TCGA Cosmic |
rs895364082 | p.Ile459Thr | missense variant | - | NC_000004.12:g.39500252A>G | TOPMed,gnomAD |
rs749809838 | p.Thr461Lys | missense variant | - | NC_000004.12:g.39500246G>T | ExAC,TOPMed,gnomAD |
rs749809838 | p.Thr461Ile | missense variant | - | NC_000004.12:g.39500246G>A | ExAC,TOPMed,gnomAD |
rs749809838 | p.Thr461Arg | missense variant | - | NC_000004.12:g.39500246G>C | ExAC,TOPMed,gnomAD |
rs1048654784 | p.Ile462Val | missense variant | - | NC_000004.12:g.39500244T>C | TOPMed,gnomAD |
rs750080424 | p.Val466Met | missense variant | - | NC_000004.12:g.39500232C>T | NCI-TCGA |
rs750080424 | p.Val466Leu | missense variant | - | NC_000004.12:g.39500232C>A | ExAC,gnomAD |
rs750080424 | p.Val466Met | missense variant | - | NC_000004.12:g.39500232C>T | ExAC,gnomAD |
rs767319348 | p.Lys469Glu | missense variant | - | NC_000004.12:g.39500223T>C | ExAC,TOPMed,gnomAD |
rs767319348 | p.Lys469Gln | missense variant | - | NC_000004.12:g.39500223T>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg470Ile | missense variant | - | NC_000004.12:g.39500219C>A | NCI-TCGA |
NCI-TCGA novel | p.Ile471Leu | missense variant | - | NC_000004.12:g.39500217T>G | NCI-TCGA |
rs757002418 | p.Pro472Ala | missense variant | - | NC_000004.12:g.39500214G>C | ExAC,gnomAD |
rs1337082775 | p.Tyr473His | missense variant | - | NC_000004.12:g.39500211A>G | TOPMed |
rs146932231 | p.Pro475Ser | missense variant | - | NC_000004.12:g.39500205G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs763664159 | p.Ser476Phe | missense variant | - | NC_000004.12:g.39500201G>A | ExAC,gnomAD |
rs760852204 | p.Gly477Ser | missense variant | - | NC_000004.12:g.39500199C>T | ExAC,gnomAD |
rs1279344897 | p.Ile479Phe | missense variant | - | NC_000004.12:g.39500193T>A | gnomAD |
rs775554067 | p.Pro480Ser | missense variant | - | NC_000004.12:g.39500190G>A | ExAC,TOPMed,gnomAD |
rs764992651 | p.Pro480Leu | missense variant | - | NC_000004.12:g.39500189G>A | ExAC,TOPMed,gnomAD |
rs775554067 | p.Pro480Thr | missense variant | - | NC_000004.12:g.39500190G>T | ExAC,TOPMed,gnomAD |
rs1239210469 | p.Phe482Val | missense variant | - | NC_000004.12:g.39500184A>C | gnomAD |
rs1373738864 | p.Phe482Tyr | missense variant | - | NC_000004.12:g.39500183A>T | gnomAD |
rs1373738864 | p.Phe482Cys | missense variant | - | NC_000004.12:g.39500183A>C | gnomAD |
rs1280951409 | p.Ser483Asn | missense variant | - | NC_000004.12:g.39500180C>T | gnomAD |
COSM119730 | p.Leu484Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.39500178G>A | NCI-TCGA Cosmic |
rs1339369402 | p.Pro487Thr | missense variant | - | NC_000004.12:g.39500169G>T | gnomAD |
rs772229766 | p.Pro488Ser | missense variant | - | NC_000004.12:g.39500166G>A | ExAC,gnomAD |
rs762039752 | p.Asn489Lys | missense variant | - | NC_000004.12:g.39500161G>T | ExAC,TOPMed,gnomAD |
rs1359236936 | p.Lys491Arg | missense variant | - | NC_000004.12:g.39500156T>C | gnomAD |
rs1158537408 | p.Pro492Thr | missense variant | - | NC_000004.12:g.39500154G>T | gnomAD |