rs148747626 | p.Ala2Val | missense variant | - | NC_000001.11:g.68232295G>A | ESP |
rs1160503998 | p.Ile5Val | missense variant | - | NC_000001.11:g.68232287T>C | TOPMed |
rs991607842 | p.Ile6Met | missense variant | - | NC_000001.11:g.68232282T>C | TOPMed |
rs1385830152 | p.Ile6Thr | missense variant | - | NC_000001.11:g.68232283A>G | TOPMed |
rs746323384 | p.Met9Val | missense variant | - | NC_000001.11:g.68232275T>C | ExAC,gnomAD |
rs746323384 | p.Met9Leu | missense variant | - | NC_000001.11:g.68232275T>G | ExAC,gnomAD |
rs1312050404 | p.Thr11Ser | missense variant | - | NC_000001.11:g.68232268G>C | gnomAD |
rs1412473355 | p.Cys15Gly | missense variant | - | NC_000001.11:g.68232257A>C | gnomAD |
COSM911883 | p.Ile16Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68232253A>G | NCI-TCGA Cosmic |
rs781704177 | p.Ile16Asn | missense variant | - | NC_000001.11:g.68232253A>T | ExAC,TOPMed,gnomAD |
rs781704177 | p.Ile16Ser | missense variant | - | NC_000001.11:g.68232253A>C | ExAC,TOPMed,gnomAD |
rs1376915170 | p.Ile16Leu | missense variant | - | NC_000001.11:g.68232254T>G | gnomAD |
rs1405226335 | p.Gly18Asp | missense variant | - | NC_000001.11:g.68232247C>T | gnomAD |
rs1157324101 | p.Gly19Val | missense variant | - | NC_000001.11:g.68232244C>A | gnomAD |
COSM1296665 | p.Leu22His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68232235A>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Val23Met | missense variant | - | NC_000001.11:g.68232233C>T | NCI-TCGA |
rs752417486 | p.Gln25His | missense variant | - | NC_000001.11:g.68232225T>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gln25SerPheSerTerUnk | frameshift | - | NC_000001.11:g.68232224_68232227TTTG>- | NCI-TCGA |
COSM911879 | p.Ile26Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68232224T>A | NCI-TCGA Cosmic |
rs764608845 | p.Ile26Val | missense variant | - | NC_000001.11:g.68232224T>C | ExAC,gnomAD |
rs571754253 | p.Ile27Val | missense variant | - | NC_000001.11:g.68232221T>C | TOPMed,gnomAD |
rs1446481673 | p.Ala28Val | missense variant | - | NC_000001.11:g.68232217G>A | gnomAD |
rs1342479853 | p.Val31Ala | missense variant | - | NC_000001.11:g.68232208A>G | TOPMed,gnomAD |
rs754478658 | p.Gly32Arg | missense variant | - | NC_000001.11:g.68232206C>T | ExAC,gnomAD |
rs753335690 | p.Gly33Ala | missense variant | - | NC_000001.11:g.68232202C>G | ExAC,gnomAD |
rs142958013 | p.Leu34Phe | missense variant | - | NC_000001.11:g.68232198C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs760671910 | p.Ile35Thr | missense variant | - | NC_000001.11:g.68232196A>G | ExAC,gnomAD |
rs906535549 | p.Pro37Ala | missense variant | - | NC_000001.11:g.68194225G>C | TOPMed |
rs1270543034 | p.Thr40Ala | missense variant | - | NC_000001.11:g.68194216T>C | TOPMed,gnomAD |
rs757203223 | p.Thr41Met | missense variant | - | NC_000001.11:g.68194212G>A | ExAC,TOPMed,gnomAD |
rs763804728 | p.Ala42Val | missense variant | - | NC_000001.11:g.68194209G>A | ExAC,TOPMed,gnomAD |
rs763804728 | p.Ala42Gly | missense variant | - | NC_000001.11:g.68194209G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala42Thr | missense variant | - | NC_000001.11:g.68194210C>T | NCI-TCGA |
rs1247182493 | p.Val43Ala | missense variant | - | NC_000001.11:g.68194206A>G | gnomAD |
rs149439243 | p.Ser44Phe | missense variant | - | NC_000001.11:g.68194203G>A | ESP,gnomAD |
rs754140558 | p.Tyr45Cys | missense variant | - | NC_000001.11:g.68194200T>C | ExAC,gnomAD |
rs754140558 | p.Tyr45Ser | missense variant | - | NC_000001.11:g.68194200T>G | ExAC,gnomAD |
rs368633951 | p.Met46Val | missense variant | - | NC_000001.11:g.68194198T>C | ExAC,TOPMed,gnomAD |
rs368633951 | p.Met46Leu | missense variant | - | NC_000001.11:g.68194198T>A | ExAC,TOPMed,gnomAD |
rs544767216 | p.Ser47Leu | missense variant | - | NC_000001.11:g.68194194G>A | 1000Genomes,ExAC,gnomAD |
rs774719446 | p.Val48Glu | missense variant | - | NC_000001.11:g.68194191A>T | ExAC,TOPMed,gnomAD |
rs1164793591 | p.Lys49Arg | missense variant | - | NC_000001.11:g.68194188T>C | gnomAD |
rs768925172 | p.Val51Met | missense variant | - | NC_000001.11:g.68194183C>T | ExAC,gnomAD |
rs1328210658 | p.Val51Ala | missense variant | - | NC_000001.11:g.68194182A>G | TOPMed |
COSM1344081 | p.Ala53Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68194176G>A | NCI-TCGA Cosmic |
rs368075278 | p.Arg54Cys | missense variant | - | NC_000001.11:g.68194174G>A | ESP,ExAC,TOPMed,gnomAD |
rs553607184 | p.Arg54Pro | missense variant | - | NC_000001.11:g.68194173C>G | ExAC,TOPMed,gnomAD |
rs368075278 | p.Arg54Gly | missense variant | - | NC_000001.11:g.68194174G>C | ESP,ExAC,TOPMed,gnomAD |
rs553607184 | p.Arg54His | missense variant | - | NC_000001.11:g.68194173C>T | ExAC,TOPMed,gnomAD |
rs553607184 | p.Arg54Leu | missense variant | - | NC_000001.11:g.68194173C>A | ExAC,TOPMed,gnomAD |
rs1468434317 | p.del55TyrPheTyrTerAsnTrpLeuLys | stop gained | - | NC_000001.11:g.68194171_68194172insTTTGAGCCAATTCTAATAAAAGTA | gnomAD |
rs751470492 | p.His58Pro | missense variant | - | NC_000001.11:g.68194161T>G | ExAC,TOPMed,gnomAD |
rs751470492 | p.His58Arg | missense variant | - | NC_000001.11:g.68194161T>C | ExAC,TOPMed,gnomAD |
COSM911875 | p.Lys59Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68194157C>A | NCI-TCGA Cosmic |
rs777581379 | p.Lys59Arg | missense variant | - | NC_000001.11:g.68194158T>C | ExAC,gnomAD |
rs1324814155 | p.Thr60Lys | missense variant | - | NC_000001.11:g.68194155G>T | gnomAD |
rs138728794 | p.Phe63Leu | missense variant | - | NC_000001.11:g.68194147A>G | ESP,ExAC,TOPMed,gnomAD |
rs766692927 | p.Val64Met | missense variant | - | NC_000001.11:g.68194144C>T | ExAC,TOPMed,gnomAD |
rs1368725790 | p.Pro65Ser | missense variant | - | NC_000001.11:g.68194141G>A | gnomAD |
rs1387104299 | p.Gly67Glu | missense variant | - | NC_000001.11:g.68194134C>T | gnomAD |
rs1325236247 | p.Gly67Arg | missense variant | - | NC_000001.11:g.68194135C>T | gnomAD |
NCI-TCGA novel | p.Lys73Glu | missense variant | - | NC_000001.11:g.68194117T>C | NCI-TCGA |
rs762333679 | p.Arg75Gln | missense variant | - | NC_000001.11:g.68194110C>T | ExAC,TOPMed,gnomAD |
rs1431322012 | p.Arg75Ter | stop gained | - | NC_000001.11:g.68194111G>A | gnomAD |
rs762333679 | p.Arg75Pro | missense variant | - | NC_000001.11:g.68194110C>G | ExAC,TOPMed,gnomAD |
rs150131585 | p.Asp76Gly | missense variant | - | NC_000001.11:g.68194107T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs954098988 | p.Asp76Asn | missense variant | - | NC_000001.11:g.68194108C>T | TOPMed |
rs763208016 | p.Glu78Lys | missense variant | - | NC_000001.11:g.68194102C>T | ExAC,gnomAD |
rs775892939 | p.Glu79Val | missense variant | - | NC_000001.11:g.68194098T>A | ExAC,gnomAD |
rs1452534553 | p.Ala80Val | missense variant | - | NC_000001.11:g.68194095G>A | gnomAD |
rs1250332149 | p.Pro82Ser | missense variant | - | NC_000001.11:g.68194090G>A | gnomAD |
rs769435154 | p.Pro82Leu | missense variant | - | NC_000001.11:g.68194089G>A | ExAC,TOPMed,gnomAD |
rs1290296126 | p.Arg83Thr | missense variant | - | NC_000001.11:g.68194086C>G | gnomAD |
rs541503463 | p.Ile85Thr | missense variant | - | NC_000001.11:g.68194080A>G | 1000Genomes,ExAC,gnomAD |
rs770374634 | p.Asn88His | missense variant | - | NC_000001.11:g.68194072T>G | ExAC,gnomAD |
rs1345869035 | p.Asn88Ser | missense variant | - | NC_000001.11:g.68194071T>C | gnomAD |
rs777546417 | p.Asp89Asn | missense variant | - | NC_000001.11:g.68194069C>T | ExAC,TOPMed,gnomAD |
rs3748704 | p.Asp89Gly | missense variant | - | NC_000001.11:g.68194068T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs747950708 | p.Ile90Met | missense variant | - | NC_000001.11:g.68194064G>C | ExAC,TOPMed,gnomAD |
rs1032223810 | p.Ile90Asn | missense variant | - | NC_000001.11:g.68194065A>T | gnomAD |
rs778854489 | p.Val91Met | missense variant | - | NC_000001.11:g.68194063C>T | ExAC,gnomAD |
COSM4009689 | p.Phe92Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68194060A>C | NCI-TCGA Cosmic |
rs756346412 | p.Ser93Pro | missense variant | - | NC_000001.11:g.68194057A>G | ExAC,gnomAD |
rs1254235090 | p.Pro97His | missense variant | - | NC_000001.11:g.68194044G>T | TOPMed |
rs767595399 | p.Pro99Arg | missense variant | - | NC_000001.11:g.68194038G>C | ExAC,gnomAD |
rs143496382 | p.His100Asn | missense variant | - | NC_000001.11:g.68194036G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs143496382 | p.His100Tyr | missense variant | - | NC_000001.11:g.68194036G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs143496382 | p.His100Asp | missense variant | - | NC_000001.11:g.68194036G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.His100Gln | missense variant | - | NC_000001.11:g.68194034G>C | NCI-TCGA |
rs763521771 | p.Met101Thr | missense variant | - | NC_000001.11:g.68194032A>G | ExAC,gnomAD |
rs145598961 | p.Met101Val | missense variant | - | NC_000001.11:g.68194033T>C | ESP,TOPMed |
rs1414608786 | p.Pro105Thr | missense variant | - | NC_000001.11:g.68194021G>T | TOPMed |
rs775768174 | p.Trp106Ser | missense variant | - | NC_000001.11:g.68194017C>G | ExAC,TOPMed,gnomAD |
rs570724708 | p.Gln108Arg | missense variant | - | NC_000001.11:g.68194011T>C | 1000Genomes,ExAC,gnomAD |
rs770663060 | p.Met110Ile | missense variant | - | NC_000001.11:g.68194004C>T | ExAC,TOPMed,gnomAD |
rs770663060 | p.Met110Ile | missense variant | - | NC_000001.11:g.68194004C>G | ExAC,TOPMed,gnomAD |
rs1280908953 | p.Leu111Val | missense variant | - | NC_000001.11:g.68194003G>C | gnomAD |
NCI-TCGA novel | p.Leu111Pro | missense variant | - | NC_000001.11:g.68194002A>G | NCI-TCGA |
NCI-TCGA novel | p.Gln115Lys | missense variant | - | NC_000001.11:g.68193991G>T | NCI-TCGA |
rs772843643 | p.Asp117Asn | missense variant | - | NC_000001.11:g.68193985C>T | ExAC,gnomAD |
rs772843643 | p.Asp117His | missense variant | - | NC_000001.11:g.68193985C>G | ExAC,gnomAD |
rs371055975 | p.Ile118Val | missense variant | - | NC_000001.11:g.68193982T>C | TOPMed |
rs1230040980 | p.Phe120Val | missense variant | - | NC_000001.11:g.68193976A>C | gnomAD |
rs1350930037 | p.Gln125Arg | missense variant | - | NC_000001.11:g.68193960T>C | gnomAD |
COSM3805852 | p.Glu128Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68159245C>G | NCI-TCGA Cosmic |
rs756461463 | p.Asn129Lys | missense variant | - | NC_000001.11:g.68159240A>C | ExAC,TOPMed,gnomAD |
rs1397817828 | p.Asn129Asp | missense variant | - | NC_000001.11:g.68159242T>C | TOPMed,gnomAD |
rs750775053 | p.Ala130Val | missense variant | - | NC_000001.11:g.68159238G>A | ExAC,TOPMed,gnomAD |
rs1362043951 | p.Val132Leu | missense variant | - | NC_000001.11:g.68159233C>G | TOPMed |
rs1032499675 | p.Ser133Thr | missense variant | - | NC_000001.11:g.68159230A>T | TOPMed |
rs1455578958 | p.Met134Thr | missense variant | - | NC_000001.11:g.68159226A>G | gnomAD |
rs767220868 | p.Asp135Asn | missense variant | - | NC_000001.11:g.68159224C>T | ExAC,gnomAD |
rs1159698998 | p.Asp135Glu | missense variant | - | NC_000001.11:g.68159222G>T | gnomAD |
rs368487427 | p.Val136Ile | missense variant | - | NC_000001.11:g.68159221C>T | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Val136Leu | missense variant | - | NC_000001.11:g.68159221C>G | NCI-TCGA |
rs1446299201 | p.Ala139Val | missense variant | - | NC_000001.11:g.68159211G>A | TOPMed |
rs751107411 | p.Tyr140Cys | missense variant | - | NC_000001.11:g.68159208T>C | ExAC,TOPMed,gnomAD |
COSM426638 | p.Arg141His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68159205C>T | NCI-TCGA Cosmic |
rs1384225388 | p.Asp143Val | missense variant | - | NC_000001.11:g.68159199T>A | TOPMed |
rs146375537 | p.Ala144Val | missense variant | - | NC_000001.11:g.68159196G>A | ESP,ExAC,TOPMed,gnomAD |
rs762774039 | p.Ala144Thr | missense variant | - | NC_000001.11:g.68159197C>T | ExAC,TOPMed,gnomAD |
rs759321846 | p.Ala146Gly | missense variant | - | NC_000001.11:g.68159190G>C | ExAC,gnomAD |
rs777451767 | p.Glu147Lys | missense variant | - | NC_000001.11:g.68159188C>T | ExAC,TOPMed,gnomAD |
rs772279175 | p.Trp148Gly | missense variant | - | NC_000001.11:g.68159185A>C | ExAC,gnomAD |
rs748429905 | p.Trp148Ter | stop gained | - | NC_000001.11:g.68159184C>T | ExAC,gnomAD |
COSM3805850 | p.Thr149Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68159181G>A | NCI-TCGA Cosmic |
rs376924151 | p.Met151Ile | missense variant | - | NC_000001.11:g.68159174C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Met151Val | missense variant | - | NC_000001.11:g.68159176T>C | NCI-TCGA |
rs768822401 | p.Ala152Thr | missense variant | - | NC_000001.11:g.68159173C>T | ExAC,TOPMed,gnomAD |
rs1034138201 | p.Ala152Val | missense variant | - | NC_000001.11:g.68159172G>A | TOPMed,gnomAD |
rs1367324720 | p.His153Arg | missense variant | - | NC_000001.11:g.68159169T>C | gnomAD |
rs1432786546 | p.His153Tyr | missense variant | - | NC_000001.11:g.68159170G>A | TOPMed,gnomAD |
rs897644525 | p.Arg155Thr | missense variant | - | NC_000001.11:g.68159163C>G | TOPMed,gnomAD |
rs749359444 | p.Arg155Gly | missense variant | - | NC_000001.11:g.68159164T>C | ExAC,gnomAD |
COSM426636 | p.Arg158Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68159155G>C | NCI-TCGA Cosmic |
rs370140589 | p.Arg158Gln | missense variant | - | NC_000001.11:g.68159154C>T | ESP,ExAC,TOPMed,gnomAD |
rs373149051 | p.Arg158Trp | missense variant | - | NC_000001.11:g.68159155G>A | ESP,ExAC,TOPMed,gnomAD |
COSM1474171 | p.Leu160Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68159148A>G | NCI-TCGA Cosmic |
rs781731523 | p.Leu160Arg | missense variant | - | NC_000001.11:g.68159148A>C | ExAC,gnomAD |
rs756953785 | p.Lys161Ile | missense variant | - | NC_000001.11:g.68159145T>A | ExAC,gnomAD |
rs763662898 | p.Thr163Ile | missense variant | - | NC_000001.11:g.68159139G>A | ExAC,gnomAD |
rs751303350 | p.Thr163Pro | missense variant | - | NC_000001.11:g.68159140T>G | ExAC,gnomAD |
rs1339153382 | p.Ser166Phe | missense variant | - | NC_000001.11:g.68159130G>A | TOPMed |
rs1421452975 | p.Pro167Ser | missense variant | - | NC_000001.11:g.68159128G>A | gnomAD |
rs775662852 | p.Lys168Met | missense variant | - | NC_000001.11:g.68159124T>A | TOPMed |
rs775662852 | p.Lys168Arg | missense variant | - | NC_000001.11:g.68159124T>C | TOPMed |
rs1203301417 | p.Thr169Ser | missense variant | - | NC_000001.11:g.68155260T>A | gnomAD |
rs554777494 | p.Pro170Ser | missense variant | - | NC_000001.11:g.68155257G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs149247893 | p.Glu173Asp | missense variant | - | NC_000001.11:g.68155246C>G | ESP,ExAC,TOPMed,gnomAD |
rs746433942 | p.Glu173Gln | missense variant | - | NC_000001.11:g.68155248C>G | ExAC,gnomAD |
rs373040642 | p.Arg175Cys | missense variant | - | NC_000001.11:g.68155242G>A | ESP,ExAC,TOPMed,gnomAD |
rs534503973 | p.Arg175His | missense variant | - | NC_000001.11:g.68155241C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs777430073 | p.Tyr177His | missense variant | - | NC_000001.11:g.68155236A>G | ExAC,gnomAD |
rs1411281581 | p.Cys179Phe | missense variant | - | NC_000001.11:g.68155229C>A | gnomAD |
rs1300394069 | p.Cys179Ser | missense variant | - | NC_000001.11:g.68155230A>T | TOPMed |
rs973992662 | p.Asp180Gly | missense variant | - | NC_000001.11:g.68155226T>C | TOPMed |
rs752250717 | p.Asp180Asn | missense variant | - | NC_000001.11:g.68155227C>T | ExAC,gnomAD |
rs764714551 | p.Val181Asp | missense variant | - | NC_000001.11:g.68155223A>T | ExAC,TOPMed,gnomAD |
rs753814975 | p.Pro183Leu | missense variant | - | NC_000001.11:g.68155217G>A | ExAC,TOPMed,gnomAD |
rs1470476075 | p.Met185Val | missense variant | - | NC_000001.11:g.68155212T>C | gnomAD |
rs1411699742 | p.Met185Thr | missense variant | - | NC_000001.11:g.68155211A>G | gnomAD |
rs1235240916 | p.Ile187Thr | missense variant | - | NC_000001.11:g.68155205A>G | TOPMed |
rs766335171 | p.Ile187Val | missense variant | - | NC_000001.11:g.68155206T>C | ExAC,gnomAD |
rs958517383 | p.Ser189Cys | missense variant | - | NC_000001.11:g.68155199G>C | TOPMed |
rs760412732 | p.Val190Leu | missense variant | - | NC_000001.11:g.68155197C>A | ExAC,gnomAD |
rs1440800104 | p.His192Pro | missense variant | - | NC_000001.11:g.68155190T>G | gnomAD |
rs750231429 | p.His192Tyr | missense variant | - | NC_000001.11:g.68155191G>A | ExAC,TOPMed,gnomAD |
rs764309802 | p.His192Gln | missense variant | - | NC_000001.11:g.68155189A>T | ExAC,gnomAD |
rs1200975329 | p.Lys193Arg | missense variant | - | NC_000001.11:g.68155187T>C | gnomAD |
NCI-TCGA novel | p.Leu196Arg | missense variant | - | NC_000001.11:g.68155178A>C | NCI-TCGA |
rs775326068 | p.Arg200Gln | missense variant | - | NC_000001.11:g.68155166C>T | ExAC,TOPMed,gnomAD |
rs775625231 | p.Arg200Trp | missense variant | - | NC_000001.11:g.68155167G>A | ExAC,TOPMed,gnomAD |
rs775326068 | p.Arg200Leu | missense variant | - | NC_000001.11:g.68155166C>A | ExAC,TOPMed,gnomAD |
rs1445114253 | p.Val203Met | missense variant | - | NC_000001.11:g.68155158C>T | gnomAD |
rs777234549 | p.Asn204Ser | missense variant | - | NC_000001.11:g.68155154T>C | ExAC,gnomAD |
rs1470629139 | p.Lys207Thr | missense variant | - | NC_000001.11:g.68155145T>G | TOPMed,gnomAD |
rs747315006 | p.Asn210Lys | missense variant | - | NC_000001.11:g.68155135A>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn210Ser | missense variant | - | NC_000001.11:g.68155136T>C | NCI-TCGA |
rs778070396 | p.Val211Leu | missense variant | - | NC_000001.11:g.68155134C>A | ExAC,gnomAD |
rs778070396 | p.Val211Met | missense variant | - | NC_000001.11:g.68155134C>T | ExAC,gnomAD |
rs1268771388 | p.Gly212Val | missense variant | - | NC_000001.11:g.68155130C>A | TOPMed |
NCI-TCGA novel | p.Gly212Glu | missense variant | - | NC_000001.11:g.68155130C>T | NCI-TCGA |
rs565833395 | p.Ile213Thr | missense variant | - | NC_000001.11:g.68155127A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1428205227 | p.Ile216Thr | missense variant | - | NC_000001.11:g.68155118A>G | TOPMed |
rs1355481712 | p.Lys217Met | missense variant | - | NC_000001.11:g.68155115T>A | TOPMed |
rs778457421 | p.Lys217Asn | missense variant | - | NC_000001.11:g.68155114C>G | ExAC,gnomAD |
rs1020037446 | p.Lys217Gln | missense variant | - | NC_000001.11:g.68155116T>G | TOPMed,gnomAD |
rs137997041 | p.Asp218His | missense variant | - | NC_000001.11:g.68155113C>G | ESP |
COSM2155293 | p.Ile219Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68155108G>C | NCI-TCGA Cosmic |
rs553213704 | p.Arg220Gln | missense variant | - | NC_000001.11:g.68155106C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
COSM1560514 | p.Gly229Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68153634C>A | NCI-TCGA Cosmic |
rs1394764795 | p.Thr231Ser | missense variant | - | NC_000001.11:g.68153628G>C | TOPMed |
NCI-TCGA novel | p.Lys232Asn | missense variant | - | NC_000001.11:g.68153624C>A | NCI-TCGA |
rs778381265 | p.Val233Met | missense variant | - | NC_000001.11:g.68153623C>T | ExAC,gnomAD |
rs566622107 | p.Trp234Cys | missense variant | - | NC_000001.11:g.68153618C>G | ExAC,TOPMed,gnomAD |
rs1034593013 | p.Trp234Leu | missense variant | - | NC_000001.11:g.68153619C>A | gnomAD |
rs899145602 | p.Met237Thr | missense variant | - | NC_000001.11:g.68153610A>G | TOPMed |
rs1429125754 | p.Met237Val | missense variant | - | NC_000001.11:g.68153611T>C | TOPMed,gnomAD |
rs899145602 | p.Met237Lys | missense variant | - | NC_000001.11:g.68153610A>T | TOPMed |
rs1170413503 | p.Phe240Leu | missense variant | - | NC_000001.11:g.68153602A>G | gnomAD |
rs750375780 | p.Thr242Lys | missense variant | - | NC_000001.11:g.68153595G>T | ExAC,TOPMed,gnomAD |
rs750375780 | p.Thr242Met | missense variant | - | NC_000001.11:g.68153595G>A | ExAC,TOPMed,gnomAD |
rs535054590 | p.Ile245Asn | missense variant | - | NC_000001.11:g.68153586A>T | 1000Genomes,ExAC,gnomAD |
rs755322764 | p.Met249Ile | missense variant | - | NC_000001.11:g.68153573C>T | ExAC,TOPMed,gnomAD |
rs765493613 | p.Met249Val | missense variant | - | NC_000001.11:g.68153575T>C | ExAC,TOPMed,gnomAD |
rs1405847168 | p.Met249Thr | missense variant | - | NC_000001.11:g.68153574A>G | TOPMed,gnomAD |
rs753958149 | p.Trp251Cys | missense variant | - | NC_000001.11:g.68153567C>G | ExAC,TOPMed,gnomAD |
rs753958149 | p.Trp251Ter | stop gained | - | NC_000001.11:g.68153567C>T | ExAC,TOPMed,gnomAD |
rs766617200 | p.Tyr252Asn | missense variant | - | NC_000001.11:g.68153566A>T | ExAC,gnomAD |
rs1276237881 | p.Trp253Ter | stop gained | - | NC_000001.11:g.68153562C>T | gnomAD |
rs761216330 | p.Arg255Ser | missense variant | - | NC_000001.11:g.68153555C>A | ExAC,gnomAD |
rs1005392323 | p.Thr257Ala | missense variant | - | NC_000001.11:g.68153551T>C | TOPMed |
rs201377818 | p.Met258Thr | missense variant | - | NC_000001.11:g.68153547A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs200780624 | p.Met258Val | missense variant | - | NC_000001.11:g.68153548T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1217791522 | p.Met258Ile | missense variant | - | NC_000001.11:g.68153546C>A | gnomAD |
rs762026214 | p.Met259Ile | missense variant | - | NC_000001.11:g.68153543C>T | ExAC,TOPMed,gnomAD |
rs1347801732 | p.Met259Thr | missense variant | - | NC_000001.11:g.68153544A>G | gnomAD |
rs375331655 | p.Arg261Ter | stop gained | - | NC_000001.11:g.68153539G>A | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg261Gln | missense variant | - | NC_000001.11:g.68153538C>T | NCI-TCGA |
rs1309994202 | p.Pro262Ser | missense variant | - | NC_000001.11:g.68153536G>A | gnomAD |
NCI-TCGA novel | p.Val264Leu | missense variant | - | NC_000001.11:g.68153530C>G | NCI-TCGA |
rs1358464295 | p.Leu266Pro | missense variant | - | NC_000001.11:g.68153523A>G | gnomAD |
rs1173898074 | p.Glu267Lys | missense variant | - | NC_000001.11:g.68153521C>T | gnomAD |
rs199608520 | p.Lys268Gln | missense variant | - | NC_000001.11:g.68153518T>G | 1000Genomes,TOPMed,gnomAD |
rs774684322 | p.Val269Ile | missense variant | - | NC_000001.11:g.68150355C>T | ExAC,gnomAD |
rs1267708910 | p.Phe271Cys | missense variant | - | NC_000001.11:g.68150348A>C | gnomAD |
NCI-TCGA novel | p.Phe271Ser | missense variant | - | NC_000001.11:g.68150348A>G | NCI-TCGA |
rs373658553 | p.Ala272Thr | missense variant | - | NC_000001.11:g.68150346C>T | ESP,ExAC,gnomAD |
rs1403610407 | p.Leu273Phe | missense variant | - | NC_000001.11:g.68150343G>A | TOPMed |
rs549083766 | p.Thr278Asn | missense variant | - | NC_000001.11:g.68150327G>T | 1000Genomes,ExAC,gnomAD |
rs1327555345 | p.Asn281Thr | missense variant | - | NC_000001.11:g.68150318T>G | gnomAD |
rs1262656316 | p.Ile282Met | missense variant | - | NC_000001.11:g.68150314G>C | gnomAD |
rs1240036964 | p.Trp286Leu | missense variant | - | NC_000001.11:g.68150303C>A | gnomAD |
rs1321192866 | p.Trp286Cys | missense variant | - | NC_000001.11:g.68150302C>G | gnomAD |
rs769455841 | p.Ile289Val | missense variant | - | NC_000001.11:g.68150295T>C | ExAC,gnomAD |
rs560637274 | p.Gly290Trp | missense variant | - | NC_000001.11:g.68150292C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs560637274 | p.Gly290Arg | missense variant | - | NC_000001.11:g.68150292C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Phe291Val | missense variant | - | NC_000001.11:g.68150289A>C | NCI-TCGA |
rs1319840166 | p.Trp293Arg | missense variant | - | NC_000001.11:g.68150283A>G | gnomAD |
rs1268574129 | p.Trp295Cys | missense variant | - | NC_000001.11:g.68150275C>G | TOPMed |
rs770764647 | p.Met296Leu | missense variant | - | NC_000001.11:g.68150274T>G | ExAC,gnomAD |
rs747019918 | p.Met296Arg | missense variant | - | NC_000001.11:g.68150273A>C | ExAC,gnomAD |
NCI-TCGA novel | p.Met296Thr | missense variant | - | NC_000001.11:g.68150273A>G | NCI-TCGA |
rs777682277 | p.Gly300Cys | missense variant | - | NC_000001.11:g.68150262C>A | ExAC,gnomAD |
rs1457147736 | p.Gly300Asp | missense variant | - | NC_000001.11:g.68150261C>T | gnomAD |
rs758230603 | p.Asp301Ala | missense variant | - | NC_000001.11:g.68150258T>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asp301Asn | missense variant | - | NC_000001.11:g.68150259C>T | NCI-TCGA |
rs780367266 | p.Ile302Met | missense variant | - | NC_000001.11:g.68150254G>C | ExAC,gnomAD |
rs781389796 | p.Arg303Pro | missense variant | - | NC_000001.11:g.68150252C>G | ExAC,TOPMed,gnomAD |
rs763193261 | p.Arg303Ter | stop gained | - | NC_000001.11:g.68150253G>A | ExAC,gnomAD |
rs781389796 | p.Arg303Gln | missense variant | - | NC_000001.11:g.68150252C>T | ExAC,TOPMed,gnomAD |
rs1463773903 | p.Gly305Ala | missense variant | - | NC_000001.11:g.68150246C>G | TOPMed,gnomAD |
rs1463773903 | p.Gly305Asp | missense variant | - | NC_000001.11:g.68150246C>T | TOPMed,gnomAD |
rs373703620 | p.Ile306Val | missense variant | - | NC_000001.11:g.68150244T>C | ESP,ExAC,TOPMed,gnomAD |
rs1326987421 | p.Ile306Ser | missense variant | - | NC_000001.11:g.68150243A>C | gnomAD |
rs146556198 | p.Tyr308Phe | missense variant | - | NC_000001.11:g.68150237T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs764615459 | p.Ala309Val | missense variant | - | NC_000001.11:g.68150234G>A | ExAC,TOPMed,gnomAD |
rs1224758616 | p.Met310Thr | missense variant | - | NC_000001.11:g.68150231A>G | gnomAD |
rs753071006 | p.Leu311Phe | missense variant | - | NC_000001.11:g.68150229G>A | ExAC,gnomAD |
rs374500512 | p.Ile316Phe | missense variant | - | NC_000001.11:g.68150214T>A | ESP,ExAC,gnomAD |
COSM4009683 | p.Glu321Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68150199C>T | NCI-TCGA Cosmic |
rs1198782090 | p.Asp325Asn | missense variant | - | NC_000001.11:g.68148660C>T | TOPMed |
rs759083110 | p.Asp325Val | missense variant | - | NC_000001.11:g.68148659T>A | ExAC,TOPMed,gnomAD |
rs1435104565 | p.His327Tyr | missense variant | - | NC_000001.11:g.68148654G>A | TOPMed |
rs149826196 | p.His327Gln | missense variant | - | NC_000001.11:g.68148652G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs760206984 | p.Glu328Lys | missense variant | - | NC_000001.11:g.68148651C>T | ExAC,TOPMed,gnomAD |
rs183229421 | p.Arg329Trp | missense variant | - | NC_000001.11:g.68148648G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs150664610 | p.Arg329Gln | missense variant | - | NC_000001.11:g.68148647C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs761900253 | p.Asn330Ser | missense variant | - | NC_000001.11:g.68148644T>C | ExAC,gnomAD |
rs1251082677 | p.His331Tyr | missense variant | - | NC_000001.11:g.68148642G>A | gnomAD |
rs773993560 | p.Ile332Val | missense variant | - | NC_000001.11:g.68148639T>C | ExAC,gnomAD |
rs768536303 | p.Ile332Asn | missense variant | - | NC_000001.11:g.68148638A>T | ExAC,gnomAD |
rs17130529 | p.Ile332Met | missense variant | - | NC_000001.11:g.68148637G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs368391265 | p.Ala333Thr | missense variant | - | NC_000001.11:g.68148636C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs368391265 | p.Ala333Ser | missense variant | - | NC_000001.11:g.68148636C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1204173995 | p.Ala333Val | missense variant | - | NC_000001.11:g.68148635G>A | TOPMed,gnomAD |
rs191705869 | p.Gly334Glu | missense variant | - | NC_000001.11:g.68148632C>T | 1000Genomes |
rs1302443592 | p.Trp336Ter | stop gained | - | NC_000001.11:g.68148626C>T | TOPMed |
rs760112523 | p.Gln338Leu | missense variant | - | NC_000001.11:g.68148620T>A | ExAC,gnomAD |
rs760112523 | p.Gln338Arg | missense variant | - | NC_000001.11:g.68148620T>C | ExAC,gnomAD |
rs758885772 | p.Val339Ile | missense variant | - | NC_000001.11:g.68148618C>T | ExAC,gnomAD |
rs755325364 | p.Gly340Arg | missense variant | - | NC_000001.11:g.68148615C>T | ExAC,TOPMed,gnomAD |
rs765990145 | p.Ile342Thr | missense variant | - | NC_000001.11:g.68148608A>G | ExAC,TOPMed,gnomAD |
rs754260821 | p.Val344Phe | missense variant | - | NC_000001.11:g.68148603C>A | ExAC,TOPMed,gnomAD |
rs754260821 | p.Val344Ile | missense variant | - | NC_000001.11:g.68148603C>T | ExAC,TOPMed,gnomAD |
rs1471162847 | p.Val344Ala | missense variant | - | NC_000001.11:g.68148602A>G | gnomAD |
rs1489605832 | p.Gly345Ser | missense variant | - | NC_000001.11:g.68148600C>T | TOPMed |
rs761809939 | p.Ser346Phe | missense variant | - | NC_000001.11:g.68148596G>A | ExAC,gnomAD |
rs1459962353 | p.Phe347Ser | missense variant | - | NC_000001.11:g.68148593A>G | gnomAD |
rs774305005 | p.Phe347Leu | missense variant | - | NC_000001.11:g.68148594A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Phe347Val | missense variant | - | NC_000001.11:g.68148594A>C | NCI-TCGA |
rs763960267 | p.Cys348Arg | missense variant | - | NC_000001.11:g.68148591A>G | ExAC,gnomAD |
rs762748650 | p.Ile351Val | missense variant | - | NC_000001.11:g.68148582T>C | ExAC,gnomAD |
COSM911865 | p.Asp353Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68148576C>A | NCI-TCGA Cosmic |
rs1464290583 | p.Asp353Gly | missense variant | - | NC_000001.11:g.68148575T>C | gnomAD |
rs771136118 | p.Met354Val | missense variant | - | NC_000001.11:g.68148573T>C | ExAC,gnomAD |
rs747286814 | p.Cys355Tyr | missense variant | - | NC_000001.11:g.68148569C>T | ExAC,TOPMed,gnomAD |
COSM4838318 | p.Arg357Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68148563C>T | NCI-TCGA Cosmic |
rs1244691536 | p.Leu361Phe | missense variant | - | NC_000001.11:g.68148189G>A | gnomAD |
rs200839533 | p.Thr362Met | missense variant | - | NC_000001.11:g.68148185G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Thr362Pro | missense variant | - | NC_000001.11:g.68148186T>G | NCI-TCGA |
rs1323164865 | p.Pro364Ala | missense variant | - | NC_000001.11:g.68148180G>C | gnomAD |
rs1267796107 | p.Ser367Gly | missense variant | - | NC_000001.11:g.68148171T>C | TOPMed |
rs769194665 | p.Ile368Thr | missense variant | - | NC_000001.11:g.68148167A>G | ExAC,gnomAD |
rs749809422 | p.Trp369Leu | missense variant | - | NC_000001.11:g.68148164C>A | ExAC,gnomAD |
rs377649019 | p.Thr370Ile | missense variant | - | NC_000001.11:g.68148161G>A | ESP,ExAC,TOPMed,gnomAD |
rs1448847233 | p.Thr370Ala | missense variant | - | NC_000001.11:g.68148162T>C | gnomAD |
rs770242439 | p.Asp372Asn | missense variant | - | NC_000001.11:g.68148156C>T | ExAC,gnomAD |
rs950142058 | p.Ile373Val | missense variant | - | NC_000001.11:g.68148153T>C | TOPMed,gnomAD |
rs746256483 | p.Ile373Thr | missense variant | - | NC_000001.11:g.68148152A>G | ExAC,gnomAD |
rs1196841907 | p.Gly374Arg | missense variant | - | NC_000001.11:g.68148150C>T | gnomAD |
rs1490697114 | p.Thr375Ala | missense variant | - | NC_000001.11:g.68148147T>C | gnomAD |
rs780933286 | p.Leu377Pro | missense variant | - | NC_000001.11:g.68148140A>G | ExAC,gnomAD |
rs1157974780 | p.Met379Thr | missense variant | - | NC_000001.11:g.68146011A>G | gnomAD |
rs1167594366 | p.Ile382Val | missense variant | - | NC_000001.11:g.68146003T>C | gnomAD |
rs541018004 | p.Val384Met | missense variant | - | NC_000001.11:g.68145997C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ile387Phe | missense variant | - | NC_000001.11:g.68145988T>A | NCI-TCGA |
rs762882816 | p.Cys390Tyr | missense variant | - | NC_000001.11:g.68145978C>T | ExAC,gnomAD |
rs775714644 | p.Phe393Ile | missense variant | - | NC_000001.11:g.68145970A>T | ExAC,gnomAD |
rs1224245364 | p.Met399Leu | missense variant | - | NC_000001.11:g.68145952T>G | TOPMed,gnomAD |
rs1224245364 | p.Met399Val | missense variant | - | NC_000001.11:g.68145952T>C | TOPMed,gnomAD |
rs1381900985 | p.Val400Ala | missense variant | - | NC_000001.11:g.68145948A>G | gnomAD |
COSM911863 | p.Phe401Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68145944A>C | NCI-TCGA Cosmic |
rs747426311 | p.Gln402Pro | missense variant | - | NC_000001.11:g.68145942T>G | ExAC,gnomAD |
rs771236969 | p.Gln402Lys | missense variant | - | NC_000001.11:g.68145943G>T | ExAC,gnomAD |
rs969490308 | p.Val403Leu | missense variant | - | NC_000001.11:g.68145940C>G | TOPMed |
NCI-TCGA novel | p.Val403Ala | missense variant | - | NC_000001.11:g.68145939A>G | NCI-TCGA |
rs200028453 | p.Arg405Gln | missense variant | - | NC_000001.11:g.68145933C>T | ExAC,TOPMed,gnomAD |
rs772685057 | p.Arg405Trp | missense variant | - | NC_000001.11:g.68145934G>A | ExAC,TOPMed,gnomAD |
rs747655642 | p.Ile407Val | missense variant | - | NC_000001.11:g.68145928T>C | ExAC,gnomAD |
rs1006464584 | p.Ser408Arg | missense variant | - | NC_000001.11:g.68145923A>C | gnomAD |
rs1377523062 | p.Gly409Ala | missense variant | - | NC_000001.11:g.68145921C>G | TOPMed |
COSM464899 | p.Lys410Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68145919T>C | NCI-TCGA Cosmic |
rs374389935 | p.Ser413Arg | missense variant | - | NC_000001.11:g.68145908G>C | ExAC,TOPMed,gnomAD |
rs749265229 | p.Ala416Val | missense variant | - | NC_000001.11:g.68145900G>A | ExAC,gnomAD |
rs780072895 | p.Met417Lys | missense variant | - | NC_000001.11:g.68145897A>T | ExAC,gnomAD |
rs755815093 | p.Ser418Gly | missense variant | - | NC_000001.11:g.68145895T>C | ExAC,gnomAD |
rs1244195134 | p.Ser418Arg | missense variant | - | NC_000001.11:g.68145893G>T | gnomAD |
COSM5673041 | p.Arg421Trp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68145886G>A | NCI-TCGA Cosmic |
rs750244529 | p.Arg421Gln | missense variant | - | NC_000001.11:g.68145885C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg421Gly | missense variant | - | NC_000001.11:g.68145886G>C | NCI-TCGA |
rs202076524 | p.Arg422Trp | missense variant | - | NC_000001.11:g.68145883G>A | ExAC,gnomAD |
rs763172046 | p.Arg422Gln | missense variant | - | NC_000001.11:g.68145882C>T | ExAC,TOPMed,gnomAD |
rs777234805 | p.His424Arg | missense variant | - | NC_000001.11:g.68145876T>C | ExAC,TOPMed,gnomAD |
rs777234805 | p.His424Leu | missense variant | - | NC_000001.11:g.68145876T>A | ExAC,TOPMed,gnomAD |
rs888029073 | p.Tyr425His | missense variant | - | NC_000001.11:g.68145874A>G | gnomAD |
rs1392022977 | p.Gly427Glu | missense variant | - | NC_000001.11:g.68144651C>T | gnomAD |
rs773427249 | p.Ile429Thr | missense variant | - | NC_000001.11:g.68144645A>G | ExAC |
NCI-TCGA novel | p.Phe430LeuPheSerTerUnkUnk | frameshift | - | NC_000001.11:g.68144641A>- | NCI-TCGA |
rs150138976 | p.Lys433Arg | missense variant | - | NC_000001.11:g.68144633T>C | ESP,ExAC,TOPMed,gnomAD |
rs1480258381 | p.Phe434Ser | missense variant | - | NC_000001.11:g.68144630A>G | gnomAD |
rs773945533 | p.Leu437Phe | missense variant | - | NC_000001.11:g.68144622G>A | ExAC,TOPMed,gnomAD |
rs768308570 | p.Ile438Val | missense variant | - | NC_000001.11:g.68144619T>C | ExAC,gnomAD |
rs1341195155 | p.Leu440Val | missense variant | - | NC_000001.11:g.68144613A>C | gnomAD |
rs889137737 | p.Ala441Ser | missense variant | - | NC_000001.11:g.68144610C>A | gnomAD |
rs889137737 | p.Ala441Thr | missense variant | - | NC_000001.11:g.68144610C>T | gnomAD |
rs1222493713 | p.Ala441Val | missense variant | - | NC_000001.11:g.68144609G>A | gnomAD |
rs769604518 | p.Cys442Tyr | missense variant | - | NC_000001.11:g.68144606C>T | ExAC,gnomAD |
rs770806676 | p.Ala443Thr | missense variant | - | NC_000001.11:g.68144604C>T | ExAC,gnomAD |
rs770806676 | p.Ala443Pro | missense variant | - | NC_000001.11:g.68144604C>G | ExAC,gnomAD |
rs1334662559 | p.Ala444Asp | missense variant | - | NC_000001.11:g.68144600G>T | gnomAD |
COSM911861 | p.Met445Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68144597A>G | NCI-TCGA Cosmic |
rs746820319 | p.Met445Ile | missense variant | - | NC_000001.11:g.68144596C>G | ExAC,gnomAD |
rs201544180 | p.Ile451Met | missense variant | - | NC_000001.11:g.68144578G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs778142595 | p.Val452Ile | missense variant | - | NC_000001.11:g.68144577C>T | ExAC,TOPMed,gnomAD |
rs778142595 | p.Val452Phe | missense variant | - | NC_000001.11:g.68144577C>A | ExAC,TOPMed,gnomAD |
rs1371106483 | p.Ser453Thr | missense variant | - | NC_000001.11:g.68144573C>G | TOPMed |
rs1371106483 | p.Ser453Asn | missense variant | - | NC_000001.11:g.68144573C>T | TOPMed |
rs1332510685 | p.Gln454His | missense variant | - | NC_000001.11:g.68144569C>G | gnomAD |
rs1199720466 | p.Val455Ile | missense variant | - | NC_000001.11:g.68137933C>T | TOPMed |
rs140465138 | p.Thr456Met | missense variant | - | NC_000001.11:g.68137929G>A | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.His459Gln | missense variant | - | NC_000001.11:g.68137919A>C | NCI-TCGA |
rs764816861 | p.Trp462Arg | missense variant | - | NC_000001.11:g.68137912A>G | ExAC,gnomAD |
rs1402456775 | p.Gly463Arg | missense variant | - | NC_000001.11:g.68137909C>G | TOPMed,gnomAD |
COSM6127157 | p.Gly464Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68137906C>A | NCI-TCGA Cosmic |
rs1162833281 | p.Gly464Ser | missense variant | - | NC_000001.11:g.68137906C>T | gnomAD |
rs983034 | p.Val465Ile | missense variant | - | NC_000001.11:g.68137903C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Thr466Ala | missense variant | - | NC_000001.11:g.68137900T>C | NCI-TCGA |
rs1474972960 | p.Val467Ile | missense variant | - | NC_000001.11:g.68137897C>T | TOPMed,gnomAD |
COSM3492052 | p.Gln468Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000001.11:g.68137894G>A | NCI-TCGA Cosmic |
rs1400480877 | p.Gln468Arg | missense variant | - | NC_000001.11:g.68137893T>C | TOPMed |
rs747919046 | p.Gln468His | missense variant | - | NC_000001.11:g.68137892T>A | ExAC,gnomAD |
rs1400480877 | p.Gln468Pro | missense variant | - | NC_000001.11:g.68137893T>G | TOPMed |
rs1488328865 | p.Ser471Asn | missense variant | - | NC_000001.11:g.68137884C>T | TOPMed,gnomAD |
rs1488328865 | p.Ser471Thr | missense variant | - | NC_000001.11:g.68137884C>G | TOPMed,gnomAD |
rs1290466762 | p.Ala472Val | missense variant | - | NC_000001.11:g.68137881G>A | gnomAD |
NCI-TCGA novel | p.Phe474SerPheSerTerUnkUnk | frameshift | - | NC_000001.11:g.68137875A>- | NCI-TCGA |
rs775725554 | p.Ile477Leu | missense variant | - | NC_000001.11:g.68137867T>G | ExAC,gnomAD |
rs985347096 | p.Tyr478Cys | missense variant | - | NC_000001.11:g.68137863T>C | TOPMed,gnomAD |
rs1292674921 | p.Met480Thr | missense variant | - | NC_000001.11:g.68137857A>G | gnomAD |
rs1229194863 | p.Asn482His | missense variant | - | NC_000001.11:g.68137852T>G | gnomAD |
rs1339147174 | p.Ala487Val | missense variant | - | NC_000001.11:g.68137836G>A | gnomAD |
rs142571662 | p.Met489Ile | missense variant | - | NC_000001.11:g.68137829C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs745953882 | p.Met489Thr | missense variant | - | NC_000001.11:g.68137830A>G | ExAC,gnomAD |
rs1302671362 | p.Tyr492Cys | missense variant | - | NC_000001.11:g.68137821T>C | gnomAD |
rs1367314990 | p.Pro494Ser | missense variant | - | NC_000001.11:g.68137816G>A | gnomAD |
COSM3805842 | p.Lys497Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68137806T>G | NCI-TCGA Cosmic |
rs778280457 | p.Asn498His | missense variant | - | NC_000001.11:g.68137804T>G | ExAC,gnomAD |
rs367885134 | p.Tyr499Cys | missense variant | - | NC_000001.11:g.68137800T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs753014700 | p.Gly500Arg | missense variant | - | NC_000001.11:g.68137798C>T | ExAC,TOPMed,gnomAD |
rs1267776678 | p.Asn505Asp | missense variant | - | NC_000001.11:g.68137783T>C | gnomAD |
rs764940216 | p.Asn505Thr | missense variant | - | NC_000001.11:g.68137782T>G | ExAC,TOPMed,gnomAD |
rs764940216 | p.Asn505Ser | missense variant | - | NC_000001.11:g.68137782T>C | ExAC,TOPMed,gnomAD |
COSM5100846 | p.Gly506Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.68126335C>T | NCI-TCGA Cosmic |
rs762768486 | p.Gly506Val | missense variant | - | NC_000001.11:g.68126335C>A | ExAC,gnomAD |
rs142863298 | p.Asp507Asn | missense variant | - | NC_000001.11:g.68126333C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs142863298 | p.Asp507His | missense variant | - | NC_000001.11:g.68126333C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs772610769 | p.Gly509Ser | missense variant | - | NC_000001.11:g.68126327C>T | ExAC,TOPMed,gnomAD |
rs1251638197 | p.Val510Ile | missense variant | - | NC_000001.11:g.68126324C>T | TOPMed |
rs374994390 | p.Gly513Ala | missense variant | - | NC_000001.11:g.68126314C>G | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Gly513Glu | missense variant | - | NC_000001.11:g.68126314C>T | NCI-TCGA |
rs779506116 | p.Glu514Lys | missense variant | - | NC_000001.11:g.68126312C>T | ExAC,gnomAD |
rs1358701011 | p.Glu515Lys | missense variant | - | NC_000001.11:g.68126309C>T | TOPMed |
rs371753437 | p.Leu516Phe | missense variant | - | NC_000001.11:g.68126306G>A | ESP,ExAC,TOPMed,gnomAD |
rs80319761 | p.Leu518Pro | missense variant | - | NC_000001.11:g.68126299A>G | gnomAD |
rs749937551 | p.Thr519Pro | missense variant | - | NC_000001.11:g.68126297T>G | ExAC,TOPMed,gnomAD |
rs749937551 | p.Thr519Ala | missense variant | - | NC_000001.11:g.68126297T>C | ExAC,TOPMed,gnomAD |
rs757184468 | p.Thr520Ile | missense variant | - | NC_000001.11:g.68126293G>A | ExAC,gnomAD |
rs1490354675 | p.Val525Gly | missense variant | - | NC_000001.11:g.68126278A>C | TOPMed |
NCI-TCGA novel | p.Asp526Gly | missense variant | - | NC_000001.11:g.68126275T>C | NCI-TCGA |
rs764113746 | p.Gly527Arg | missense variant | - | NC_000001.11:g.68126273C>T | ExAC,TOPMed,gnomAD |
rs1208787795 | p.Thr529Ser | missense variant | - | NC_000001.11:g.68126267T>A | gnomAD |
rs752492386 | p.Glu530Asp | missense variant | - | NC_000001.11:g.68126262C>G | ExAC,gnomAD |
rs1211633783 | p.Lys533Thr | missense variant | - | NC_000001.11:g.68126254T>G | gnomAD |
rs773311381 | p.Arg536Cys | missense variant | - | NC_000001.11:g.68126246G>A | ExAC,gnomAD |
rs1319499255 | p.Lys537Asn | missense variant | - | NC_000001.11:g.68126241C>A | gnomAD |
rs1278458589 | p.Glu538Lys | missense variant | - | NC_000001.11:g.68126240C>T | gnomAD |
NCI-TCGA novel | p.Gln540Arg | missense variant | - | NC_000001.11:g.68126233T>C | NCI-TCGA |