rs754150699 | p.Asp2Gly | missense variant | - | NC_000008.11:g.18400008A>G | ExAC,gnomAD |
rs200893121 | p.Ile3Val | missense variant | - | NC_000008.11:g.18400010A>G | 1000Genomes |
rs186884477 | p.Ile3Thr | missense variant | - | NC_000008.11:g.18400011T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs186884477 | p.Ile3Asn | missense variant | - | NC_000008.11:g.18400011T>A | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu4Val | missense variant | - | NC_000008.11:g.18400014A>T | NCI-TCGA |
rs1435840670 | p.Tyr6His | missense variant | - | NC_000008.11:g.18400019T>C | gnomAD |
COSM6112854 | p.Phe7Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400023T>A | NCI-TCGA Cosmic |
COSM3646974 | p.Arg9Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400029G>A | NCI-TCGA Cosmic |
COSM1097664 | p.Arg9Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400029G>T | NCI-TCGA Cosmic |
rs72466456 | p.Ile10Asn | missense variant | - | NC_000008.11:g.18400032T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs72466456 | p.Ile10Thr | missense variant | - | NC_000008.11:g.18400032T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs72466456 | p.Ile10Ser | missense variant | - | NC_000008.11:g.18400032T>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs747536177 | p.Gly11Val | missense variant | - | NC_000008.11:g.18400035G>T | ExAC,gnomAD |
rs755689546 | p.Tyr12Cys | missense variant | - | NC_000008.11:g.18400038A>G | ExAC,gnomAD |
rs1281741349 | p.Lys13Arg | missense variant | - | NC_000008.11:g.18400041A>G | gnomAD |
rs777235619 | p.Lys13Asn | missense variant | - | NC_000008.11:g.18400042G>T | ExAC,TOPMed,gnomAD |
rs770525419 | p.Asn14His | missense variant | - | NC_000008.11:g.18400043A>C | ExAC |
rs774237368 | p.Asn14Lys | missense variant | - | NC_000008.11:g.18400045C>G | ExAC,gnomAD |
rs1258543620 | p.Ser15Thr | missense variant | - | NC_000008.11:g.18400046T>A | gnomAD |
rs745585836 | p.Arg16Ser | missense variant | - | NC_000008.11:g.18400051G>T | ExAC,gnomAD |
rs928522570 | p.Arg16Thr | missense variant | - | NC_000008.11:g.18400050G>C | TOPMed,gnomAD |
rs201339185 | p.Asn17Lys | missense variant | - | NC_000008.11:g.18400054C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1475615331 | p.Leu19Trp | missense variant | - | NC_000008.11:g.18400059T>G | TOPMed |
rs532310930 | p.Asp20Tyr | missense variant | - | NC_000008.11:g.18400061G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs760627448 | p.Leu21Ter | stop gained | - | NC_000008.11:g.18400065T>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu21Phe | missense variant | - | NC_000008.11:g.18400066G>C | NCI-TCGA |
rs764315394 | p.Thr23Ile | missense variant | - | NC_000008.11:g.18400071C>T | ExAC,gnomAD |
rs1464413878 | p.Thr23Pro | missense variant | - | NC_000008.11:g.18400070A>C | TOPMed |
rs45477599 | p.Leu24Ile | missense variant | - | NC_000008.11:g.18400073T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs45477599 | p.Leu24Ile | missense variant | - | NC_000008.11:g.18400073T>A | UniProt,dbSNP |
VAR_018853 | p.Leu24Ile | missense variant | - | NC_000008.11:g.18400073T>A | UniProt |
rs1204993451 | p.Thr25Pro | missense variant | - | NC_000008.11:g.18400076A>C | TOPMed |
rs1325562681 | p.Asp26Asn | missense variant | - | NC_000008.11:g.18400079G>A | gnomAD |
rs765487420 | p.Ile27Leu | missense variant | - | NC_000008.11:g.18400082A>C | ExAC,TOPMed,gnomAD |
rs1275931651 | p.Leu28His | missense variant | - | NC_000008.11:g.18400086T>A | gnomAD |
COSM750180 | p.Glu29Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400090G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ile32Met | missense variant | - | NC_000008.11:g.18400099C>G | NCI-TCGA |
rs138592670 | p.Arg33Gln | missense variant | - | NC_000008.11:g.18400101G>A | ESP,ExAC,TOPMed,gnomAD |
rs763283305 | p.Arg33Trp | missense variant | - | NC_000008.11:g.18400100C>T | ExAC,TOPMed,gnomAD |
rs752047953 | p.Val35Ile | missense variant | - | NC_000008.11:g.18400106G>A | ExAC,TOPMed,gnomAD |
rs752047953 | p.Val35Phe | missense variant | - | NC_000008.11:g.18400106G>T | ExAC,TOPMed,gnomAD |
rs199780526 | p.Val35Ala | missense variant | - | NC_000008.11:g.18400107T>C | 1000Genomes |
rs752047953 | p.Val35Leu | missense variant | - | NC_000008.11:g.18400106G>C | ExAC,TOPMed,gnomAD |
rs377338395 | p.Pro36Ala | missense variant | - | NC_000008.11:g.18400109C>G | ESP,ExAC,TOPMed,gnomAD |
rs377338395 | p.Pro36Thr | missense variant | - | NC_000008.11:g.18400109C>A | ESP,ExAC,TOPMed,gnomAD |
rs753310036 | p.Phe37Ser | missense variant | - | NC_000008.11:g.18400113T>C | ExAC,TOPMed,gnomAD |
rs1272204007 | p.Phe37Leu | missense variant | - | NC_000008.11:g.18400112T>C | gnomAD |
rs149283608 | p.Asn41Tyr | missense variant | - | NC_000008.11:g.18400124A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs886633825 | p.Met42Leu | missense variant | - | NC_000008.11:g.18400127A>T | TOPMed,gnomAD |
rs1405525958 | p.Met42Thr | missense variant | - | NC_000008.11:g.18400128T>C | TOPMed |
rs1175197943 | p.His43Pro | missense variant | - | NC_000008.11:g.18400131A>C | gnomAD |
rs1411878664 | p.Cys44Ser | missense variant | - | NC_000008.11:g.18400134G>C | TOPMed |
rs771801023 | p.Gly45Val | missense variant | - | NC_000008.11:g.18400137G>T | ExAC,TOPMed,gnomAD |
rs771801023 | p.Gly45Glu | missense variant | - | NC_000008.11:g.18400137G>A | ExAC,TOPMed,gnomAD |
rs779874333 | p.Gln46His | missense variant | - | NC_000008.11:g.18400141A>T | ExAC,gnomAD |
rs1463045225 | p.Ala47Val | missense variant | - | NC_000008.11:g.18400143C>T | gnomAD |
rs1463045225 | p.Ala47Asp | missense variant | - | NC_000008.11:g.18400143C>A | gnomAD |
rs1165911161 | p.Met48Val | missense variant | - | NC_000008.11:g.18400145A>G | TOPMed |
rs1189346481 | p.Glu49Lys | missense variant | - | NC_000008.11:g.18400148G>A | TOPMed,gnomAD |
rs111750824 | p.Leu50Met | missense variant | - | NC_000008.11:g.18400151T>A | gnomAD |
rs72466457 | p.Gly51Val | missense variant | - | NC_000008.11:g.18400155G>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Leu52Phe | missense variant | - | NC_000008.11:g.18400159A>T | NCI-TCGA |
rs1473213000 | p.Glu53Gln | missense variant | - | NC_000008.11:g.18400160G>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Ala54Val | missense variant | - | NC_000008.11:g.18400164C>T | NCI-TCGA |
COSM1455898 | p.Ala54Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400163G>A | NCI-TCGA Cosmic |
rs78003756 | p.Asp57Tyr | missense variant | - | NC_000008.11:g.18400172G>T | - |
rs776854665 | p.Asp57Gly | missense variant | - | NC_000008.11:g.18400173A>G | ExAC,gnomAD |
rs773371959 | p.Ile59Thr | missense variant | - | NC_000008.11:g.18400179T>C | ExAC,TOPMed,gnomAD |
rs773371959 | p.Ile59Asn | missense variant | - | NC_000008.11:g.18400179T>A | ExAC,TOPMed,gnomAD |
rs374728016 | p.Ile59Phe | missense variant | - | NC_000008.11:g.18400178A>T | ESP,ExAC,gnomAD |
rs779910396 | p.Asn63Ser | missense variant | - | NC_000008.11:g.18400191A>G | ExAC,TOPMed,gnomAD |
rs1805158 | p.Arg64Trp | missense variant | - | NC_000008.11:g.18400193C>T | ExAC,TOPMed,gnomAD |
rs1801279 | p.Arg64Gln | missense variant | - | NC_000008.11:g.18400194G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1019316375 | p.Gly65Asp | missense variant | - | NC_000008.11:g.18400197G>A | TOPMed,gnomAD |
rs1019316375 | p.Gly65Val | missense variant | - | NC_000008.11:g.18400197G>T | TOPMed,gnomAD |
COSM3646976 | p.Gly66Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400200G>A | NCI-TCGA Cosmic |
rs756821699 | p.Trp67Leu | missense variant | - | NC_000008.11:g.18400203G>T | ExAC,TOPMed,gnomAD |
rs201345576 | p.Trp67Arg | missense variant | - | NC_000008.11:g.18400202T>C | 1000Genomes,gnomAD |
rs1476310549 | p.Trp67Cys | missense variant | - | NC_000008.11:g.18400204G>T | gnomAD |
rs1476310549 | p.Trp67Ter | stop gained | - | NC_000008.11:g.18400204G>A | gnomAD |
NCI-TCGA novel | p.Gln70His | missense variant | - | NC_000008.11:g.18400213G>T | NCI-TCGA |
COSM3646977 | p.Gln70Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000008.11:g.18400211C>T | NCI-TCGA Cosmic |
rs201080763 | p.Asn72Ser | missense variant | - | NC_000008.11:g.18400218A>G | ExAC,TOPMed,gnomAD |
rs1408322773 | p.Gln73Ter | stop gained | - | NC_000008.11:g.18400220C>T | gnomAD |
rs750089838 | p.Gln73His | missense variant | - | NC_000008.11:g.18400222A>C | ExAC,gnomAD |
rs1371741216 | p.Leu75Val | missense variant | - | NC_000008.11:g.18400226C>G | TOPMed,gnomAD |
rs72466459 | p.Tyr76Ter | stop gained | - | NC_000008.11:g.18400231C>A | gnomAD |
rs72466459 | p.Tyr76Ter | stop gained | - | NC_000008.11:g.18400231C>G | gnomAD |
rs1311450114 | p.Trp77Ter | stop gained | - | NC_000008.11:g.18400233G>A | TOPMed,gnomAD |
rs1284492798 | p.Thr80Ser | missense variant | - | NC_000008.11:g.18400242C>G | gnomAD |
rs1422696182 | p.Thr81Ala | missense variant | - | NC_000008.11:g.18400244A>G | TOPMed |
NCI-TCGA novel | p.Thr81Ile | missense variant | - | NC_000008.11:g.18400245C>T | NCI-TCGA |
rs951834305 | p.Thr81Lys | missense variant | - | NC_000008.11:g.18400245C>A | gnomAD |
rs1342819768 | p.Ile82Phe | missense variant | - | NC_000008.11:g.18400247A>T | gnomAD |
rs561124342 | p.Gly83Val | missense variant | - | NC_000008.11:g.18400251G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs561124342 | p.Gly83Ala | missense variant | - | NC_000008.11:g.18400251G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs746734312 | p.Gly83Ser | missense variant | - | NC_000008.11:g.18400250G>A | ExAC,TOPMed,gnomAD |
rs746734312 | p.Gly83Cys | missense variant | - | NC_000008.11:g.18400250G>T | ExAC,TOPMed,gnomAD |
rs773321494 | p.Phe84Tyr | missense variant | - | NC_000008.11:g.18400254T>A | ExAC,gnomAD |
rs1260133999 | p.Gln85Ter | stop gained | - | NC_000008.11:g.18400256C>T | gnomAD |
rs763106203 | p.Gln85His | missense variant | - | NC_000008.11:g.18400258G>C | ExAC,gnomAD |
rs1474441417 | p.Gln85Pro | missense variant | - | NC_000008.11:g.18400257A>C | gnomAD |
rs771145519 | p.Thr86Asn | missense variant | - | NC_000008.11:g.18400260C>A | ExAC,gnomAD |
rs774706631 | p.Met88Val | missense variant | - | NC_000008.11:g.18400265A>G | ExAC,TOPMed,gnomAD |
rs774706631 | p.Met88Leu | missense variant | - | NC_000008.11:g.18400265A>C | ExAC,TOPMed,gnomAD |
rs1172380462 | p.Met88Thr | missense variant | - | NC_000008.11:g.18400266T>C | gnomAD |
rs1490596479 | p.Gly90Glu | missense variant | - | NC_000008.11:g.18400272G>A | TOPMed |
rs759840221 | p.Gly90Arg | missense variant | - | NC_000008.11:g.18400271G>A | ExAC,TOPMed,gnomAD |
rs555947824 | p.Tyr94Phe | missense variant | - | NC_000008.11:g.18400284A>T | gnomAD |
rs1427989661 | p.Ile95Thr | missense variant | - | NC_000008.11:g.18400287T>C | gnomAD |
rs948085566 | p.Ile95Met | missense variant | - | NC_000008.11:g.18400288C>G | TOPMed,gnomAD |
rs761144507 | p.Pro96Leu | missense variant | - | NC_000008.11:g.18400290C>T | ExAC,gnomAD |
rs761144507 | p.Pro96His | missense variant | - | NC_000008.11:g.18400290C>A | ExAC,gnomAD |
rs1233452008 | p.Pro97Ala | missense variant | - | NC_000008.11:g.18400292C>G | gnomAD |
rs1321612090 | p.Pro97Leu | missense variant | - | NC_000008.11:g.18400293C>T | TOPMed |
rs927916278 | p.Val98Ile | missense variant | - | NC_000008.11:g.18400295G>A | gnomAD |
rs764673578 | p.Asn99Asp | missense variant | - | NC_000008.11:g.18400298A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Lys100Glu | missense variant | - | NC_000008.11:g.18400301A>G | NCI-TCGA |
rs1200849934 | p.Tyr101His | missense variant | - | NC_000008.11:g.18400304T>C | gnomAD |
rs1225528067 | p.Tyr101Ter | stop gained | - | NC_000008.11:g.18400305dup | TOPMed |
rs749903527 | p.Thr103Ser | missense variant | - | NC_000008.11:g.18400311C>G | ExAC,gnomAD |
rs1445503066 | p.Gly104Ser | missense variant | - | NC_000008.11:g.18400313G>A | gnomAD |
rs757987716 | p.Met105Leu | missense variant | - | NC_000008.11:g.18400316A>T | ExAC,gnomAD |
COSM1699776 | p.Val106Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400320T>C | NCI-TCGA Cosmic |
rs549917500 | p.His107Gln | missense variant | - | NC_000008.11:g.18400324C>A | 1000Genomes,ExAC,gnomAD |
rs751243960 | p.Leu108Arg | missense variant | - | NC_000008.11:g.18400326T>G | ExAC,gnomAD |
NCI-TCGA novel | p.Gln111Arg | missense variant | - | NC_000008.11:g.18400335A>G | NCI-TCGA |
rs754884737 | p.Gln111His | missense variant | - | NC_000008.11:g.18400336G>C | ExAC,gnomAD |
rs1383708687 | p.Val112Met | missense variant | - | NC_000008.11:g.18400337G>A | gnomAD |
rs1801280 | p.Ile114Thr | missense variant | - | NC_000008.11:g.18400344T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs781102691 | p.Ile114Val | missense variant | - | NC_000008.11:g.18400343A>G | ExAC,gnomAD |
rs183409091 | p.Gly116Ser | missense variant | - | NC_000008.11:g.18400349G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs879610883 | p.Arg117Ser | missense variant | - | NC_000008.11:g.18400354G>T | gnomAD |
rs749323416 | p.Arg117Thr | missense variant | - | NC_000008.11:g.18400353G>C | ExAC,gnomAD |
rs1349204233 | p.Asn118Ser | missense variant | - | NC_000008.11:g.18400356A>G | TOPMed |
rs1233619276 | p.Asn118Asp | missense variant | - | NC_000008.11:g.18400355A>G | gnomAD |
rs1405169350 | p.Ile120Val | missense variant | - | NC_000008.11:g.18400361A>G | TOPMed |
rs4986996 | p.Asp122His | missense variant | - | NC_000008.11:g.18400367G>C | ExAC,TOPMed,gnomAD |
rs559660817 | p.Asp122Gly | missense variant | - | NC_000008.11:g.18400368A>G | ExAC,TOPMed,gnomAD |
rs4986996 | p.Asp122Tyr | missense variant | - | NC_000008.11:g.18400367G>T | ExAC,TOPMed,gnomAD |
rs4986996 | p.Asp122Asn | missense variant | - | NC_000008.11:g.18400367G>A | ExAC,TOPMed,gnomAD |
rs1243197391 | p.Ala123Val | missense variant | - | NC_000008.11:g.18400371C>T | TOPMed |
NCI-TCGA novel | p.Ala123Asp | missense variant | - | NC_000008.11:g.18400371C>A | NCI-TCGA |
rs764591879 | p.Gly124Val | missense variant | - | NC_000008.11:g.18400374G>T | ExAC,TOPMed,gnomAD |
rs764591879 | p.Gly124Glu | missense variant | - | NC_000008.11:g.18400374G>A | ExAC,TOPMed,gnomAD |
COSM4545381 | p.Gly126Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400379G>A | NCI-TCGA Cosmic |
rs140983217 | p.Ser127Arg | missense variant | - | NC_000008.11:g.18400384C>A | ESP,ExAC,TOPMed,gnomAD |
rs140983217 | p.Ser127Arg | missense variant | - | NC_000008.11:g.18400384C>G | ESP,ExAC,TOPMed,gnomAD |
rs1181461804 | p.Ser128Tyr | missense variant | - | NC_000008.11:g.18400386C>A | gnomAD |
rs754657440 | p.Met131Ile | missense variant | - | NC_000008.11:g.18400396G>T | ExAC,TOPMed,gnomAD |
rs754657440 | p.Met131Ile | missense variant | - | NC_000008.11:g.18400396G>C | ExAC,TOPMed,gnomAD |
rs754657440 | p.Met131Ile | missense variant | - | NC_000008.11:g.18400396G>A | ExAC,TOPMed,gnomAD |
rs767445699 | p.Trp132Cys | missense variant | - | NC_000008.11:g.18400399G>C | ExAC,gnomAD |
COSM3929475 | p.Gln133His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400402G>C | NCI-TCGA Cosmic |
rs752501077 | p.Pro134Ser | missense variant | - | NC_000008.11:g.18400403C>T | ExAC |
NCI-TCGA novel | p.Pro134AlaPheSerTerUnkUnk | frameshift | - | NC_000008.11:g.18400401_18400402insG | NCI-TCGA |
rs752501077 | p.Pro134Ser | missense variant | - | NC_000008.11:g.18400403C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs1323316428 | p.Leu135Pro | missense variant | - | NC_000008.11:g.18400407T>C | gnomAD |
rs12720065 | p.Leu135Val | missense variant | - | NC_000008.11:g.18400406C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs4986997 | p.Leu137Phe | missense variant | - | NC_000008.11:g.18400414A>C | ExAC,gnomAD |
rs1392723145 | p.Leu137Ser | missense variant | - | NC_000008.11:g.18400413T>C | gnomAD |
rs4986997 | p.Leu137Phe | missense variant | - | NC_000008.11:g.18400414A>T | ExAC,gnomAD |
rs1328178338 | p.Ile138Leu | missense variant | - | NC_000008.11:g.18400415A>C | TOPMed,gnomAD |
rs749172780 | p.Gly140Arg | missense variant | - | NC_000008.11:g.18400421G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly140Ala | missense variant | - | NC_000008.11:g.18400422G>C | NCI-TCGA |
rs778936592 | p.Lys141Gln | missense variant | - | NC_000008.11:g.18400424A>C | ExAC,gnomAD |
rs1413819756 | p.Asp142Glu | missense variant | - | NC_000008.11:g.18400429T>A | gnomAD |
COSM1331082 | p.Gln143Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000008.11:g.18400430C>T | NCI-TCGA Cosmic |
rs775833318 | p.Gln145His | missense variant | - | NC_000008.11:g.18400438G>C | ExAC,gnomAD |
rs72554616 | p.Gln145Pro | missense variant | - | NC_000008.11:g.18400437A>C | ExAC,gnomAD |
rs72554616 | p.Gln145Pro | missense variant | - | NC_000008.11:g.18400437A>C | UniProt,dbSNP |
VAR_009076 | p.Gln145Pro | missense variant | - | NC_000008.11:g.18400437A>C | UniProt |
rs1432822488 | p.Gln145Lys | missense variant | - | NC_000008.11:g.18400436C>A | TOPMed |
rs1357210737 | p.Pro147Ser | missense variant | - | NC_000008.11:g.18400442C>T | gnomAD |
NCI-TCGA novel | p.Ile149AsnPheSerTerUnkUnk | frameshift | - | NC_000008.11:g.18400447_18400448insA | NCI-TCGA |
rs747336755 | p.Cys151Arg | missense variant | - | NC_000008.11:g.18400454T>C | ExAC,gnomAD |
rs1319339483 | p.Leu152Phe | missense variant | - | NC_000008.11:g.18400459G>C | TOPMed |
rs374177543 | p.Leu152Trp | missense variant | - | NC_000008.11:g.18400458T>G | ESP,ExAC,TOPMed,gnomAD |
rs72466460 | p.Thr153Ile | missense variant | - | NC_000008.11:g.18400461C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Glu155Gln | missense variant | - | NC_000008.11:g.18400466G>C | NCI-TCGA |
rs368704280 | p.Glu155Asp | missense variant | - | NC_000008.11:g.18400468G>C | ESP,ExAC,gnomAD |
rs1162331328 | p.Arg156Lys | missense variant | - | NC_000008.11:g.18400470G>A | gnomAD |
rs770612696 | p.Gly157Glu | missense variant | - | NC_000008.11:g.18400473G>A | ExAC,gnomAD |
rs139351995 | p.Ile158Leu | missense variant | - | NC_000008.11:g.18400475A>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs537007806 | p.Trp159Arg | missense variant | - | NC_000008.11:g.18400478T>A | 1000Genomes,TOPMed,gnomAD |
rs537007806 | p.Trp159Arg | missense variant | - | NC_000008.11:g.18400478T>C | 1000Genomes,TOPMed,gnomAD |
rs1035625458 | p.Asp162Glu | missense variant | - | NC_000008.11:g.18400489C>G | TOPMed |
rs139512288 | p.Ile164Thr | missense variant | - | NC_000008.11:g.18400494T>C | 1000Genomes,ExAC,gnomAD |
COSM3646980 | p.Arg165Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400497G>A | NCI-TCGA Cosmic |
rs1315076417 | p.Arg166Gly | missense variant | - | NC_000008.11:g.18400499A>G | gnomAD |
rs1354992629 | p.Arg166Thr | missense variant | - | NC_000008.11:g.18400500G>C | gnomAD |
rs72554617 | p.Glu167Gln | missense variant | - | NC_000008.11:g.18400502G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs72554617 | p.Glu167Lys | missense variant | - | NC_000008.11:g.18400502G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1315180839 | p.Gln168His | missense variant | - | NC_000008.11:g.18400507G>C | TOPMed,gnomAD |
rs200585149 | p.Tyr169Cys | missense variant | - | NC_000008.11:g.18400509A>G | 1000Genomes |
rs1341104335 | p.Tyr169Asp | missense variant | - | NC_000008.11:g.18400508T>G | gnomAD |
rs956044329 | p.Thr171Ile | missense variant | - | NC_000008.11:g.18400515C>T | TOPMed |
rs1010029101 | p.Lys173Gln | missense variant | - | NC_000008.11:g.18400520A>C | TOPMed,gnomAD |
rs369500066 | p.Lys173Arg | missense variant | - | NC_000008.11:g.18400521A>G | ExAC,TOPMed,gnomAD |
rs753856548 | p.Glu174Lys | missense variant | - | NC_000008.11:g.18400523G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Leu176Phe | missense variant | - | NC_000008.11:g.18400529C>T | NCI-TCGA |
rs757090914 | p.Asn177Lys | missense variant | - | NC_000008.11:g.18400534T>G | ExAC,TOPMed,gnomAD |
rs968770218 | p.Ser178Tyr | missense variant | - | NC_000008.11:g.18400536C>A | TOPMed |
NCI-TCGA novel | p.His179Tyr | missense variant | - | NC_000008.11:g.18400538C>T | NCI-TCGA |
rs572750517 | p.His179Arg | missense variant | - | NC_000008.11:g.18400539A>G | 1000Genomes |
rs778993761 | p.Leu180Phe | missense variant | - | NC_000008.11:g.18400541C>T | ExAC,gnomAD |
rs1232810154 | p.Lys183Glu | missense variant | - | NC_000008.11:g.18400550A>G | TOPMed |
rs1484935093 | p.Lys183Thr | missense variant | - | NC_000008.11:g.18400551A>C | gnomAD |
COSM3898586 | p.Lys184Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400554A>C | NCI-TCGA Cosmic |
rs1311332863 | p.His186Tyr | missense variant | - | NC_000008.11:g.18400559C>T | TOPMed |
NCI-TCGA novel | p.Gln187His | missense variant | - | NC_000008.11:g.18400564A>C | NCI-TCGA |
rs372084377 | p.Gln187Glu | missense variant | - | NC_000008.11:g.18400562C>G | ESP,ExAC,TOPMed |
rs780311376 | p.Ile189Met | missense variant | - | NC_000008.11:g.18400570A>G | ExAC,gnomAD |
rs541628619 | p.Ile189Thr | missense variant | - | NC_000008.11:g.18400569T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ile189AsnPheSerTerUnkUnk | frameshift | - | NC_000008.11:g.18400569T>- | NCI-TCGA |
rs374761885 | p.Tyr190Cys | missense variant | - | NC_000008.11:g.18400572A>G | ESP,ExAC,TOPMed,gnomAD |
rs769102650 | p.Tyr190Ter | stop gained | - | NC_000008.11:g.18400573C>G | ExAC,gnomAD |
rs1388170814 | p.Tyr190His | missense variant | - | NC_000008.11:g.18400571T>C | gnomAD |
rs79050330 | p.Thr193Met | missense variant | - | NC_000008.11:g.18400581C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Thr193Ala | missense variant | - | NC_000008.11:g.18400580A>G | NCI-TCGA |
rs79050330 | p.Thr193Met | missense variant | - | NC_000008.11:g.18400581C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs774002627 | p.Leu194Val | missense variant | - | NC_000008.11:g.18400583C>G | ExAC,TOPMed,gnomAD |
rs1381655226 | p.Leu194Pro | missense variant | - | NC_000008.11:g.18400584T>C | gnomAD |
rs759059031 | p.Glu195Gln | missense variant | - | NC_000008.11:g.18400586G>C | ExAC,gnomAD |
rs775284097 | p.Pro196Arg | missense variant | - | NC_000008.11:g.18400590C>G | ExAC,gnomAD |
rs771698130 | p.Pro196Thr | missense variant | - | NC_000008.11:g.18400589C>A | ExAC,TOPMed,gnomAD |
rs1799930 | p.Arg197Gln | missense variant | - | NC_000008.11:g.18400593G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1799930 | p.Arg197Gln | missense variant | - | NC_000008.11:g.18400593G>A | UniProt,dbSNP |
VAR_004610 | p.Arg197Gln | missense variant | - | NC_000008.11:g.18400593G>A | UniProt |
rs375746304 | p.Arg197Ter | stop gained | - | NC_000008.11:g.18400592C>T | ESP,ExAC,TOPMed,gnomAD |
rs1390083945 | p.Thr198Arg | missense variant | - | NC_000008.11:g.18400596C>G | TOPMed |
rs761741098 | p.Ile199Thr | missense variant | - | NC_000008.11:g.18400599T>C | ExAC,TOPMed,gnomAD |
rs761741098 | p.Ile199Asn | missense variant | - | NC_000008.11:g.18400599T>A | ExAC,TOPMed,gnomAD |
COSM3646981 | p.Glu200Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400601G>A | NCI-TCGA Cosmic |
rs1483375862 | p.Glu200Ter | stop gained | - | NC_000008.11:g.18400601G>T | gnomAD |
rs750343726 | p.Asp201Tyr | missense variant | - | NC_000008.11:g.18400604G>T | ExAC,TOPMed,gnomAD |
rs750343726 | p.Asp201Asn | missense variant | - | NC_000008.11:g.18400604G>A | ExAC,TOPMed,gnomAD |
rs1450863488 | p.Phe202Ser | missense variant | - | NC_000008.11:g.18400608T>C | gnomAD |
rs45618543 | p.Glu203Asp | missense variant | - | NC_000008.11:g.18400612G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs758539294 | p.Glu203Gln | missense variant | - | NC_000008.11:g.18400610G>C | ExAC,TOPMed,gnomAD |
rs45618543 | p.Glu203Asp | missense variant | - | NC_000008.11:g.18400612G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1481100252 | p.Glu203Gly | missense variant | - | NC_000008.11:g.18400611A>G | TOPMed |
rs755105691 | p.Ser204Tyr | missense variant | - | NC_000008.11:g.18400614C>A | ExAC,gnomAD |
rs45607939 | p.Met205Leu | missense variant | - | NC_000008.11:g.18400616A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs531322433 | p.Met205Ile | missense variant | - | NC_000008.11:g.18400618G>C | ExAC,gnomAD |
rs45607939 | p.Met205Val | missense variant | - | NC_000008.11:g.18400616A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1318865257 | p.Tyr208Cys | missense variant | - | NC_000008.11:g.18400626A>G | gnomAD |
rs56387565 | p.Tyr208His | missense variant | - | NC_000008.11:g.18400625T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1246640246 | p.Leu209Arg | missense variant | - | NC_000008.11:g.18400629T>G | TOPMed |
rs1370491254 | p.Gln210Lys | missense variant | - | NC_000008.11:g.18400631C>A | gnomAD |
rs749810939 | p.Thr211Met | missense variant | - | NC_000008.11:g.18400635C>T | ExAC,TOPMed,gnomAD |
rs749810939 | p.Thr211Lys | missense variant | - | NC_000008.11:g.18400635C>A | ExAC,TOPMed,gnomAD |
rs749810939 | p.Thr211Met | missense variant | - | NC_000008.11:g.18400635C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs138707146 | p.Pro213Leu | missense variant | - | NC_000008.11:g.18400641C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs568110818 | p.Phe217Tyr | missense variant | - | NC_000008.11:g.18400653T>A | 1000Genomes,ExAC,gnomAD |
rs1231891119 | p.Ile218Val | missense variant | - | NC_000008.11:g.18400655A>G | gnomAD |
rs376918049 | p.Thr219Ser | missense variant | - | NC_000008.11:g.18400658A>T | ESP,ExAC,gnomAD |
rs761651231 | p.Thr220Ile | missense variant | - | NC_000008.11:g.18400662C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Ser221Ala | missense variant | - | NC_000008.11:g.18400664T>G | NCI-TCGA |
COSM4818209 | p.Ser221Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400665C>T | NCI-TCGA Cosmic |
rs1265895628 | p.Cys223Ser | missense variant | - | NC_000008.11:g.18400671G>C | gnomAD |
rs765010993 | p.Cys223Ser | missense variant | - | NC_000008.11:g.18400670T>A | ExAC |
rs1344597702 | p.Cys223Trp | missense variant | - | NC_000008.11:g.18400672T>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser224Phe | missense variant | - | NC_000008.11:g.18400674C>T | NCI-TCGA |
rs762854719 | p.Leu225Ter | stop gained | - | NC_000008.11:g.18400677T>A | ExAC,gnomAD |
COSM75560 | p.Leu225Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400677T>C | NCI-TCGA Cosmic |
rs150329557 | p.Pro228Ser | missense variant | - | NC_000008.11:g.18400685C>T | ESP,ExAC,TOPMed,gnomAD |
rs45518335 | p.Pro228Leu | missense variant | - | NC_000008.11:g.18400686C>T | UniProt,dbSNP |
VAR_018854 | p.Pro228Leu | missense variant | - | NC_000008.11:g.18400686C>T | UniProt |
rs45518335 | p.Pro228Leu | missense variant | - | NC_000008.11:g.18400686C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs755233460 | p.Glu229Gly | missense variant | - | NC_000008.11:g.18400689A>G | ExAC,TOPMed,gnomAD |
rs749948990 | p.Gly230Val | missense variant | - | NC_000008.11:g.18400692G>T | ExAC,TOPMed,gnomAD |
rs752955201 | p.Val231Ile | missense variant | - | NC_000008.11:g.18400694G>A | ExAC,TOPMed,gnomAD |
rs1157192529 | p.Tyr232Ter | stop gained | - | NC_000008.11:g.18400699C>A | gnomAD |
rs1157192529 | p.Tyr232Ter | stop gained | - | NC_000008.11:g.18400699C>G | gnomAD |
rs1414496827 | p.Cys233Ser | missense variant | - | NC_000008.11:g.18400701G>C | TOPMed,gnomAD |
rs756616433 | p.Val235Gly | missense variant | - | NC_000008.11:g.18400707T>G | ExAC,gnomAD |
rs1252922818 | p.Val235Leu | missense variant | - | NC_000008.11:g.18400706G>C | TOPMed |
rs778253810 | p.Gly236Arg | missense variant | - | NC_000008.11:g.18400709G>C | ExAC,TOPMed,gnomAD |
rs778253810 | p.Gly236Ser | missense variant | - | NC_000008.11:g.18400709G>A | ExAC,TOPMed,gnomAD |
rs149460636 | p.Gly236Asp | missense variant | - | NC_000008.11:g.18400710G>A | ESP,ExAC,TOPMed,gnomAD |
rs149460636 | p.Gly236Val | missense variant | - | NC_000008.11:g.18400710G>T | ESP,ExAC,TOPMed,gnomAD |
rs757793253 | p.Ile238Leu | missense variant | - | NC_000008.11:g.18400715A>C | ExAC,gnomAD |
rs568250144 | p.Thr240Ile | missense variant | - | NC_000008.11:g.18400722C>T | gnomAD |
rs568250144 | p.Thr240Asn | missense variant | - | NC_000008.11:g.18400722C>A | gnomAD |
NCI-TCGA novel | p.Lys243Gln | missense variant | - | NC_000008.11:g.18400730A>C | NCI-TCGA |
COSM486276 | p.Phe244Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400733T>C | NCI-TCGA Cosmic |
rs746441923 | p.Asn245Ser | missense variant | - | NC_000008.11:g.18400737A>G | ExAC,TOPMed,gnomAD |
rs776210861 | p.Tyr246Cys | missense variant | - | NC_000008.11:g.18400740A>G | ExAC,gnomAD |
rs1271976533 | p.Lys247Glu | missense variant | - | NC_000008.11:g.18400742A>G | gnomAD |
rs747765495 | p.Asp248Asn | missense variant | - | NC_000008.11:g.18400745G>A | ExAC,gnomAD |
rs904393746 | p.Asn249Ser | missense variant | - | NC_000008.11:g.18400749A>G | TOPMed,gnomAD |
rs769624189 | p.Asn249His | missense variant | - | NC_000008.11:g.18400748A>C | ExAC,gnomAD |
rs996188894 | p.Thr250Lys | missense variant | - | NC_000008.11:g.18400752C>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Asp251Tyr | missense variant | - | NC_000008.11:g.18400754G>T | NCI-TCGA |
rs772941387 | p.Asp251Asn | missense variant | - | NC_000008.11:g.18400754G>A | ExAC,TOPMed,gnomAD |
rs762908305 | p.Val253Ala | missense variant | - | NC_000008.11:g.18400761T>C | ExAC,gnomAD |
rs1473049060 | p.Val253Ile | missense variant | - | NC_000008.11:g.18400760G>A | gnomAD |
rs369191649 | p.Glu254Lys | missense variant | - | NC_000008.11:g.18400763G>A | ESP,ExAC,TOPMed,gnomAD |
rs55700793 | p.Lys256Glu | missense variant | - | NC_000008.11:g.18400769A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs55700793 | p.Lys256Ter | stop gained | - | NC_000008.11:g.18400769A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs373698592 | p.Thr257Ala | missense variant | - | NC_000008.11:g.18400772A>G | ESP,ExAC,TOPMed,gnomAD |
rs373698592 | p.Thr257Ser | missense variant | - | NC_000008.11:g.18400772A>T | ESP,ExAC,TOPMed,gnomAD |
rs756385259 | p.Thr257Ser | missense variant | - | NC_000008.11:g.18400773C>G | ExAC,gnomAD |
rs764579294 | p.Leu258Val | missense variant | - | NC_000008.11:g.18400775C>G | ExAC,gnomAD |
rs1310257229 | p.Thr259Ala | missense variant | - | NC_000008.11:g.18400778A>G | gnomAD |
rs1304162037 | p.Thr259Asn | missense variant | - | NC_000008.11:g.18400779C>A | TOPMed |
rs1310257229 | p.Thr259Ala | missense variant | - | NC_000008.11:g.18400778A>G | NCI-TCGA Cosmic |
rs754185402 | p.Glu260Lys | missense variant | - | NC_000008.11:g.18400781G>A | ExAC,gnomAD |
rs757792034 | p.Glu260Asp | missense variant | - | NC_000008.11:g.18400783G>C | ExAC,gnomAD |
rs754185402 | p.Glu260Gln | missense variant | - | NC_000008.11:g.18400781G>C | ExAC,gnomAD |
rs1229559151 | p.Glu261Gly | missense variant | - | NC_000008.11:g.18400785A>G | gnomAD |
rs779344462 | p.Glu262Asp | missense variant | - | NC_000008.11:g.18400789G>C | ExAC |
rs968335980 | p.Val263Ala | missense variant | - | NC_000008.11:g.18400791T>C | TOPMed,gnomAD |
rs1290457380 | p.Val263Ile | missense variant | - | NC_000008.11:g.18400790G>A | gnomAD |
rs539346244 | p.Val266Met | missense variant | - | NC_000008.11:g.18400799G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1208 | p.Lys268Arg | missense variant | - | NC_000008.11:g.18400806= | UniProt,dbSNP |
VAR_004611 | p.Lys268Arg | missense variant | - | NC_000008.11:g.18400806= | UniProt |
rs1208 | p.Arg268Lys | missense variant | - | NC_000008.11:g.18400806G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs910738034 | p.Arg268Gly | missense variant | - | NC_000008.11:g.18400805A>G | gnomAD |
rs1208 | p.Arg268Ile | missense variant | - | NC_000008.11:g.18400806G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
VAR_004611 | p.Lys268Arg | Missense | - | - | UniProt |
rs868725509 | p.Ile270Thr | missense variant | - | NC_000008.11:g.18400812T>C | TOPMed,gnomAD |
rs1235991376 | p.Ile270Met | missense variant | - | NC_000008.11:g.18400813A>G | gnomAD |
rs780656764 | p.Phe271Leu | missense variant | - | NC_000008.11:g.18400814T>C | ExAC,TOPMed,gnomAD |
rs1182548272 | p.Lys272Glu | missense variant | - | NC_000008.11:g.18400817A>G | gnomAD |
COSM3646982 | p.Ser274Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.18400824C>T | NCI-TCGA Cosmic |
rs148566670 | p.Leu275Met | missense variant | - | NC_000008.11:g.18400826T>A | ESP,ExAC,TOPMed,gnomAD |
rs1448193837 | p.Gly276Glu | missense variant | - | NC_000008.11:g.18400830G>A | gnomAD |
rs1269922864 | p.Gly276Arg | missense variant | - | NC_000008.11:g.18400829G>C | TOPMed |
rs1448193837 | p.Gly276Glu | missense variant | - | NC_000008.11:g.18400830G>A | NCI-TCGA |
rs1434541633 | p.Arg277Lys | missense variant | - | NC_000008.11:g.18400833G>A | gnomAD |
rs980236111 | p.Arg277Ter | stop gained | - | NC_000008.11:g.18400832A>T | TOPMed,gnomAD |
rs777549905 | p.Leu279Arg | missense variant | - | NC_000008.11:g.18400839T>G | ExAC,gnomAD |
rs56393504 | p.Val280Met | missense variant | - | NC_000008.11:g.18400841G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs56393504 | p.Val280Leu | missense variant | - | NC_000008.11:g.18400841G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1363900196 | p.Pro281Thr | missense variant | - | NC_000008.11:g.18400844C>A | TOPMed,gnomAD |
rs56054745 | p.Lys282Thr | missense variant | - | NC_000008.11:g.18400848A>C | UniProt,dbSNP |
VAR_009077 | p.Lys282Thr | missense variant | - | NC_000008.11:g.18400848A>C | UniProt |
rs56054745 | p.Lys282Thr | missense variant | - | NC_000008.11:g.18400848A>C | ESP,ExAC,TOPMed,gnomAD |
rs56054745 | p.Lys282Arg | missense variant | - | NC_000008.11:g.18400848A>G | ESP,ExAC,TOPMed,gnomAD |
rs772095430 | p.Pro283Ala | missense variant | - | NC_000008.11:g.18400850C>G | ExAC,gnomAD |
rs775667197 | p.Pro283Arg | missense variant | - | NC_000008.11:g.18400851C>G | ExAC,gnomAD |
rs1283582970 | p.Asp285Gly | missense variant | - | NC_000008.11:g.18400857A>G | TOPMed |
rs1799931 | p.Gly286Glu | missense variant | - | NC_000008.11:g.18400860G>A | UniProt,dbSNP |
VAR_004612 | p.Gly286Glu | missense variant | - | NC_000008.11:g.18400860G>A | UniProt |
rs1799931 | p.Gly286Glu | missense variant | - | NC_000008.11:g.18400860G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs72554618 | p.Ser287Pro | missense variant | - | NC_000008.11:g.18400862T>C | ExAC |
rs1211162895 | p.Ser287Cys | missense variant | - | NC_000008.11:g.18400863C>G | gnomAD |
rs762148940 | p.Ile290Thr | missense variant | - | NC_000008.11:g.18400872T>C | ExAC,gnomAD |
rs146801219 | p.Ter291Glu | stop lost | - | NC_000008.11:g.18400874T>G | ESP,ExAC,TOPMed,gnomAD |
rs750940890 | p.Ter291Trp | stop lost | - | NC_000008.11:g.18400875A>G | ExAC,gnomAD |