rs1468346288 | p.Gln2Lys | missense variant | - | NC_000008.11:g.108082635G>T | gnomAD |
COSM4932095 | p.Gln2Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.108082634T>C | NCI-TCGA Cosmic |
rs1271453894 | p.Arg4Cys | missense variant | - | NC_000008.11:g.108082629G>A | TOPMed,gnomAD |
rs1271453894 | p.Arg4Gly | missense variant | - | NC_000008.11:g.108082629G>C | TOPMed,gnomAD |
rs757934532 | p.Leu5Pro | missense variant | - | NC_000008.11:g.108082625A>G | ExAC,TOPMed,gnomAD |
rs555188515 | p.Leu5Phe | missense variant | - | NC_000008.11:g.108082626G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs555188515 | p.Leu5Ile | missense variant | - | NC_000008.11:g.108082626G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1270740681 | p.Phe6Leu | missense variant | - | NC_000008.11:g.108082623A>G | TOPMed |
NCI-TCGA novel | p.Ser7Cys | missense variant | - | NC_000008.11:g.108082619G>C | NCI-TCGA |
NCI-TCGA novel | p.Phe8Cys | missense variant | - | NC_000008.11:g.108082616A>C | NCI-TCGA |
rs752314217 | p.Leu10Val | missense variant | - | NC_000008.11:g.108082611G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ile11Thr | missense variant | - | NC_000008.11:g.108082607A>G | NCI-TCGA |
rs148112629 | p.Ile11Val | missense variant | - | NC_000008.11:g.108082608T>C | ESP,ExAC,TOPMed,gnomAD |
rs148112629 | p.Ile11Leu | missense variant | - | NC_000008.11:g.108082608T>G | ESP,ExAC,TOPMed,gnomAD |
rs761309497 | p.Ile11Met | missense variant | - | NC_000008.11:g.108082606G>C | ExAC,TOPMed,gnomAD |
rs773874508 | p.Leu13Pro | missense variant | - | NC_000008.11:g.108082601A>G | ExAC,gnomAD |
rs1345485042 | p.Cys15Arg | missense variant | - | NC_000008.11:g.108082596A>G | gnomAD |
rs370155369 | p.Met16Val | missense variant | - | NC_000008.11:g.108082593T>C | ESP,ExAC,TOPMed,gnomAD |
COSM1094782 | p.Asp17Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.108082590C>T | NCI-TCGA Cosmic |
COSM6112004 | p.Asp17Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.108082588A>T | NCI-TCGA Cosmic |
rs768980014 | p.Ser19Arg | missense variant | - | NC_000008.11:g.108082582G>T | ExAC,gnomAD |
rs1454064180 | p.Gly23Ser | missense variant | - | NC_000008.11:g.108082572C>T | gnomAD |
rs541770055 | p.Asn24Lys | missense variant | - | NC_000008.11:g.108082567G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs143724513 | p.Arg25Gly | missense variant | - | NC_000008.11:g.108082566G>C | ESP,ExAC,TOPMed,gnomAD |
rs770791000 | p.Arg27Ile | missense variant | - | NC_000008.11:g.108082559C>A | ExAC,TOPMed,gnomAD |
rs777420823 | p.Arg28His | missense variant | - | NC_000008.11:g.108082556C>T | ExAC,gnomAD |
rs777420823 | p.Arg28Leu | missense variant | - | NC_000008.11:g.108082556C>A | ExAC,gnomAD |
COSM145895 | p.Arg28Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.108082557G>A | NCI-TCGA Cosmic |
rs758105036 | p.Ser29Cys | missense variant | - | NC_000008.11:g.108082554T>A | ExAC,gnomAD |
rs752266481 | p.Lys30Glu | missense variant | - | NC_000008.11:g.108082551T>C | ExAC |
NCI-TCGA novel | p.Lys30Arg | missense variant | - | NC_000008.11:g.108082550T>C | NCI-TCGA |
NCI-TCGA novel | p.Lys30Thr | missense variant | - | NC_000008.11:g.108082550T>G | NCI-TCGA |
rs368258992 | p.Arg31Pro | missense variant | - | NC_000008.11:g.108082547C>G | ESP |
NCI-TCGA novel | p.Ser33Arg | missense variant | - | NC_000008.11:g.107989240A>C | NCI-TCGA |
rs763230106 | p.Tyr34Cys | missense variant | - | NC_000008.11:g.107989238T>C | ExAC,gnomAD |
rs1399270598 | p.Val35Ile | missense variant | - | NC_000008.11:g.107989236C>T | TOPMed |
rs765464784 | p.Ser36Leu | missense variant | - | NC_000008.11:g.107989232G>A | ExAC,gnomAD |
rs1158899940 | p.Asn37Ser | missense variant | - | NC_000008.11:g.107989229T>C | TOPMed |
rs1366699334 | p.Asn37Lys | missense variant | - | NC_000008.11:g.107989228A>T | TOPMed |
rs759729631 | p.Gly42Arg | missense variant | - | NC_000008.11:g.107989215C>G | ExAC,TOPMed |
RCV000656658 | p.Gly42Ter | frameshift | TETRAAMELIA SYNDROME 2 (TETAMS2) | NC_000008.11:g.107989216del | ClinVar |
rs1249794255 | p.Cys43Tyr | missense variant | - | NC_000008.11:g.107989211C>T | gnomAD |
NCI-TCGA novel | p.Cys43Arg | missense variant | - | NC_000008.11:g.107989212A>G | NCI-TCGA |
NCI-TCGA novel | p.Leu44Val | missense variant | - | NC_000008.11:g.107989209A>C | NCI-TCGA |
rs368908416 | p.Ser45Pro | missense variant | - | NC_000008.11:g.107989206A>G | ESP,ExAC,gnomAD |
rs766437369 | p.Ser45Phe | missense variant | - | NC_000008.11:g.107989205G>A | ExAC,TOPMed,gnomAD |
rs867807924 | p.Cys46Phe | missense variant | - | NC_000008.11:g.107989202C>A | gnomAD |
rs760755130 | p.Cys46Trp | missense variant | - | NC_000008.11:g.107989201A>C | ExAC,gnomAD |
COSM3924472 | p.Asp49Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107989194C>T | NCI-TCGA Cosmic |
rs1344257606 | p.Asn50Ser | missense variant | - | NC_000008.11:g.107989190T>C | TOPMed |
NCI-TCGA novel | p.Gly51Glu | missense variant | - | NC_000008.11:g.107989187C>T | NCI-TCGA |
COSM453838 | p.Gly51Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107989187C>A | NCI-TCGA Cosmic |
COSM748829 | p.Gly51Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107989188C>G | NCI-TCGA Cosmic |
rs747919315 | p.Cys52Arg | missense variant | - | NC_000008.11:g.107989185A>G | ExAC,gnomAD |
rs774174845 | p.Cys52Phe | missense variant | - | NC_000008.11:g.107989184C>A | ExAC,gnomAD |
rs768464293 | p.Ser53Asn | missense variant | - | NC_000008.11:g.107989181C>T | ExAC,gnomAD |
COSM748830 | p.Ser53Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107989180G>C | NCI-TCGA Cosmic |
rs539897843 | p.Arg54Gln | missense variant | - | NC_000008.11:g.107989178C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1460069208 | p.Arg54Ter | stop gained | - | NC_000008.11:g.107989179G>A | gnomAD |
rs1280882436 | p.Cys55Arg | missense variant | - | NC_000008.11:g.107989176A>G | TOPMed |
NCI-TCGA novel | p.Gln57His | missense variant | - | NC_000008.11:g.107989168C>A | NCI-TCGA |
rs779767746 | p.Leu59Phe | missense variant | - | NC_000008.11:g.107989162C>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Phe60Leu | missense variant | - | NC_000008.11:g.107989161A>G | NCI-TCGA |
rs149399382 | p.Phe60Leu | missense variant | - | NC_000008.11:g.107989159G>C | ESP,TOPMed |
rs149399382 | p.Phe60Leu | missense variant | - | NC_000008.11:g.107989159G>T | ESP,TOPMed |
COSM748831 | p.Phe62Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107989154A>G | NCI-TCGA Cosmic |
COSM748832 | p.Leu63Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107989152G>A | NCI-TCGA Cosmic |
rs182334537 | p.Arg64Gln | missense variant | - | NC_000008.11:g.107989148C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg64Ter | stop gained | - | NC_000008.11:g.107989149G>A | NCI-TCGA |
rs182334537 | p.Arg64Pro | missense variant | - | NC_000008.11:g.107989148C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs189754456 | p.Glu66Asp | missense variant | - | NC_000008.11:g.107989141T>G | 1000Genomes,TOPMed |
rs745308347 | p.Glu66Lys | missense variant | - | NC_000008.11:g.107989143C>T | ExAC,gnomAD |
rs778172689 | p.Gly67Arg | missense variant | - | NC_000008.11:g.107989140C>G | ExAC,gnomAD |
rs1455373749 | p.Gly67Val | missense variant | - | NC_000008.11:g.107989139C>A | gnomAD |
COSM3643898 | p.Gly67Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107989139C>T | NCI-TCGA Cosmic |
COSM6112005 | p.Gly67Trp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107989140C>A | NCI-TCGA Cosmic |
rs758888137 | p.Arg69Ser | missense variant | - | NC_000008.11:g.107989134G>T | ExAC,TOPMed,gnomAD |
rs758888137 | p.Arg69Cys | missense variant | - | NC_000008.11:g.107989134G>A | ExAC,TOPMed,gnomAD |
rs747238565 | p.Arg69His | missense variant | - | NC_000008.11:g.107989133C>T | ExAC,TOPMed,gnomAD |
RCV000656660 | p.Arg69Cys | missense variant | HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (HHRRD) | NC_000008.11:g.107989134G>A | ClinVar |
VAR_081036 | p.Arg69Cys | Missense | Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) [MIM:618022] | - | UniProt |
rs1449497581 | p.Gln70His | missense variant | - | NC_000008.11:g.107989129C>G | gnomAD |
COSM284715 | p.Gln70His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107989129C>A | NCI-TCGA Cosmic |
VAR_081037 | p.Gln70_Gln243del | inframe_deletion | Tetraamelia syndrome 2 (TETAMS2) [MIM:618021] | - | UniProt |
rs765551185 | p.Tyr71Cys | missense variant | - | NC_000008.11:g.107989127T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Gly72Glu | missense variant | - | NC_000008.11:g.107989124C>T | NCI-TCGA |
COSM3884665 | p.Gly72Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107989124C>G | NCI-TCGA Cosmic |
COSM5538411 | p.Gly72Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107989125C>T | NCI-TCGA Cosmic |
rs1205170970 | p.Glu73Gln | missense variant | - | NC_000008.11:g.107989122C>G | TOPMed,gnomAD |
rs1284433818 | p.Pro79Leu | missense variant | - | NC_000008.11:g.107989103G>A | gnomAD |
rs1303112979 | p.Gly81Glu | missense variant | - | NC_000008.11:g.107989097C>T | gnomAD |
rs139268055 | p.Gly81Arg | missense variant | - | NC_000008.11:g.107989098C>T | ESP,TOPMed,gnomAD |
rs754077477 | p.Tyr82His | missense variant | - | NC_000008.11:g.107989095A>G | ExAC,gnomAD |
rs1319262945 | p.Tyr83Cys | missense variant | - | NC_000008.11:g.107989091T>C | gnomAD |
NCI-TCGA novel | p.Gly84Glu | missense variant | - | NC_000008.11:g.107989088C>T | NCI-TCGA |
rs760703263 | p.His85Gln | missense variant | - | NC_000008.11:g.107989084G>T | ExAC,gnomAD |
rs202023955 | p.Arg86Gln | missense variant | - | NC_000008.11:g.107989082C>T | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Arg86Leu | missense variant | - | NC_000008.11:g.107989082C>A | NCI-TCGA |
rs773297160 | p.Arg86Ter | stop gained | - | NC_000008.11:g.107989083G>A | ExAC,TOPMed,gnomAD |
rs146879547 | p.Ala87Ser | missense variant | - | NC_000008.11:g.107989080C>A | ESP,ExAC,TOPMed,gnomAD |
rs866661505 | p.Pro88Leu | missense variant | - | NC_000008.11:g.107989076G>A | gnomAD |
rs774354810 | p.Pro88Ser | missense variant | - | NC_000008.11:g.107989077G>A | ExAC,gnomAD |
rs774354810 | p.Pro88Ala | missense variant | - | NC_000008.11:g.107989077G>C | ExAC,gnomAD |
rs374497297 | p.Asp89Glu | missense variant | - | NC_000008.11:g.107989072A>T | ESP,TOPMed |
rs1157466005 | p.Asp89His | missense variant | - | NC_000008.11:g.107989074C>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Asp89ArgPheSerTerUnkUnk | frameshift | - | NC_000008.11:g.107989078_107989079insT | NCI-TCGA |
rs1243442989 | p.Met90Arg | missense variant | - | NC_000008.11:g.107989070A>C | gnomAD |
rs1468343162 | p.Met90Val | missense variant | - | NC_000008.11:g.107989071T>C | TOPMed,gnomAD |
rs1441104270 | p.Asn91Asp | missense variant | - | NC_000008.11:g.107989068T>C | TOPMed |
rs962970462 | p.Arg95Gly | missense variant | - | NC_000008.11:g.107989056T>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Arg95Lys | missense variant | - | NC_000008.11:g.107960817C>T | NCI-TCGA |
rs568583994 | p.Arg95Ser | missense variant | - | NC_000008.11:g.107960816T>A | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Cys96Phe | missense variant | - | NC_000008.11:g.107960814C>A | NCI-TCGA |
COSM1488888 | p.Ile98Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107960809T>A | NCI-TCGA Cosmic |
rs1195642001 | p.Asn100His | missense variant | - | NC_000008.11:g.107960803T>G | gnomAD |
rs775374943 | p.Cys101Arg | missense variant | - | NC_000008.11:g.107960800A>G | ExAC,gnomAD |
rs769378904 | p.Asp102Val | missense variant | - | NC_000008.11:g.107960796T>A | ExAC |
COSM3643897 | p.Asp102Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107960797C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Phe105Leu | missense variant | - | NC_000008.11:g.107960788A>G | NCI-TCGA |
rs776067721 | p.Asp108Glu | missense variant | - | NC_000008.11:g.107960777G>T | ExAC,gnomAD |
rs1370386696 | p.Asp108Tyr | missense variant | - | NC_000008.11:g.107960779C>A | NCI-TCGA Cosmic |
rs1370386696 | p.Asp108Tyr | missense variant | - | NC_000008.11:g.107960779C>A | TOPMed |
rs1348823437 | p.Cys110Arg | missense variant | - | NC_000008.11:g.107960773A>G | gnomAD |
NCI-TCGA novel | p.Cys110Tyr | missense variant | - | NC_000008.11:g.107960772C>T | NCI-TCGA |
NCI-TCGA novel | p.Lys112Gln | missense variant | - | NC_000008.11:g.107960767T>G | NCI-TCGA |
rs770458544 | p.Lys112Asn | missense variant | - | NC_000008.11:g.107960765C>A | ExAC,TOPMed,gnomAD |
rs746453626 | p.Lys114Arg | missense variant | - | NC_000008.11:g.107960760T>C | ExAC,gnomAD |
rs769106083 | p.Gly116Asp | missense variant | - | NC_000008.11:g.107960754C>T | ExAC,TOPMed,gnomAD |
rs769106083 | p.Gly116Val | missense variant | - | NC_000008.11:g.107960754C>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.His120Asn | missense variant | - | NC_000008.11:g.107960743G>T | NCI-TCGA |
rs756359748 | p.Arg121Gly | missense variant | - | NC_000008.11:g.107960740T>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly122Asp | missense variant | - | NC_000008.11:g.107960736C>T | NCI-TCGA |
rs867580351 | p.Gly122Ser | missense variant | - | NC_000008.11:g.107960737C>T | TOPMed |
rs192607553 | p.Arg123Ser | missense variant | - | NC_000008.11:g.107960734G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs192607553 | p.Arg123Cys | missense variant | - | NC_000008.11:g.107960734G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs376412378 | p.Arg123His | missense variant | - | NC_000008.11:g.107960733C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM3884662 | p.Glu127Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000008.11:g.107960722C>A | NCI-TCGA Cosmic |
rs752947067 | p.Cys128Tyr | missense variant | - | NC_000008.11:g.107960718C>T | ExAC,gnomAD |
rs1359670074 | p.Pro129Leu | missense variant | - | NC_000008.11:g.107960715G>A | gnomAD |
rs764147792 | p.Pro129Ser | missense variant | - | NC_000008.11:g.107960716G>A | ExAC,TOPMed,gnomAD |
COSM748834 | p.Gly131Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107960710C>A | NCI-TCGA Cosmic |
rs142649056 | p.Ala133Val | missense variant | - | NC_000008.11:g.107960703G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM6112006 | p.Pro134Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107960700G>T | NCI-TCGA Cosmic |
rs1554576888 | p.Glu137Ter | stop gained | - | NC_000008.11:g.107960692C>A | - |
rs1214561465 | p.Glu137Ala | missense variant | - | NC_000008.11:g.107960691T>G | gnomAD |
RCV000656659 | p.Glu137Ter | nonsense | TETRAAMELIA SYNDROME 2 (TETAMS2) | NC_000008.11:g.107960692C>A | ClinVar |
NCI-TCGA novel | p.Glu137Lys | missense variant | - | NC_000008.11:g.107960692C>T | NCI-TCGA |
VAR_081038 | p.Glu137_Gln243del | inframe_deletion | Tetraamelia syndrome 2 (TETAMS2) [MIM:618021] | - | UniProt |
rs948771132 | p.Thr138Ile | missense variant | - | NC_000008.11:g.107960688G>A | TOPMed,gnomAD |
rs938897531 | p.Met139Thr | missense variant | - | NC_000008.11:g.107960685A>G | TOPMed |
rs373151135 | p.Met139Val | missense variant | - | NC_000008.11:g.107960686T>C | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu140Lys | missense variant | - | NC_000008.11:g.107960683C>T | NCI-TCGA |
rs368950936 | p.Cys141Arg | missense variant | - | NC_000008.11:g.107960680A>G | ESP,ExAC,TOPMed,gnomAD |
rs368950936 | p.Cys141Gly | missense variant | - | NC_000008.11:g.107960680A>C | ESP,ExAC,TOPMed,gnomAD |
rs377563913 | p.Val142Met | missense variant | - | NC_000008.11:g.107960677C>T | ESP,ExAC,TOPMed,gnomAD |
rs1157598979 | p.Val147Phe | missense variant | - | NC_000008.11:g.107958257C>A | gnomAD |
NCI-TCGA novel | p.Gly148Val | missense variant | - | NC_000008.11:g.107958253C>A | NCI-TCGA |
rs1418395272 | p.Gly148Ala | missense variant | - | NC_000008.11:g.107958253C>G | gnomAD |
COSM76300 | p.Gly148Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107958254C>T | NCI-TCGA Cosmic |
rs147756016 | p.His149Arg | missense variant | - | NC_000008.11:g.107958250T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs147756016 | p.His149Leu | missense variant | - | NC_000008.11:g.107958250T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs150297181 | p.Ser151Arg | missense variant | - | NC_000008.11:g.107958243G>C | ESP,ExAC,TOPMed,gnomAD |
rs543739350 | p.Ser151Asn | missense variant | - | NC_000008.11:g.107958244C>T | ExAC,TOPMed,gnomAD |
rs1178258792 | p.Glu152Asp | missense variant | - | NC_000008.11:g.107958240T>A | TOPMed |
rs140125293 | p.Glu152Lys | missense variant | - | NC_000008.11:g.107958242C>T | ESP,ExAC,TOPMed,gnomAD |
rs140125293 | p.Glu152Ter | stop gained | - | NC_000008.11:g.107958242C>A | ESP,ExAC,TOPMed,gnomAD |
rs1252075737 | p.Trp153Ser | missense variant | - | NC_000008.11:g.107958238C>G | TOPMed |
rs767003645 | p.Gly154Glu | missense variant | - | NC_000008.11:g.107958235C>T | ExAC,gnomAD |
COSM3924471 | p.Gly154Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107958236C>T | NCI-TCGA Cosmic |
COSM748835 | p.Ser157Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107958225G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asn159Tyr | missense variant | - | NC_000008.11:g.107958221T>A | NCI-TCGA |
rs776068927 | p.Arg161Cys | missense variant | - | NC_000008.11:g.107958215G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg161Pro | missense variant | - | NC_000008.11:g.107958214C>G | NCI-TCGA |
rs770159956 | p.Arg161His | missense variant | - | NC_000008.11:g.107958214C>T | ExAC,TOPMed,gnomAD |
rs1311412050 | p.Cys163Arg | missense variant | - | NC_000008.11:g.107958209A>G | gnomAD |
NCI-TCGA novel | p.Gly164Glu | missense variant | - | NC_000008.11:g.107958205C>T | NCI-TCGA |
COSM3643894 | p.Gly164Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107958206C>T | NCI-TCGA Cosmic |
rs771315758 | p.Gly168Ala | missense variant | - | NC_000008.11:g.107958193C>G | ExAC,gnomAD |
rs1362294787 | p.Leu169Arg | missense variant | - | NC_000008.11:g.107958190A>C | gnomAD |
rs747227279 | p.Leu169Met | missense variant | - | NC_000008.11:g.107958191G>T | ExAC,TOPMed,gnomAD |
rs778053213 | p.Thr173Ile | missense variant | - | NC_000008.11:g.107958178G>A | ExAC,gnomAD |
rs758562140 | p.Arg174Trp | missense variant | - | NC_000008.11:g.107958176G>A | ExAC,TOPMed,gnomAD |
rs369770616 | p.Arg174Gln | missense variant | - | NC_000008.11:g.107958175C>T | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gln175Ter | stop gained | - | NC_000008.11:g.107958173G>A | NCI-TCGA |
rs200806324 | p.Ile176Met | missense variant | - | NC_000008.11:g.107958168A>C | ESP,ExAC,TOPMed,gnomAD |
COSM6179486 | p.Val177Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107958167C>G | NCI-TCGA Cosmic |
rs1465807706 | p.Lys179Asn | missense variant | - | NC_000008.11:g.107958159C>A | TOPMed,gnomAD |
rs1017150632 | p.Pro180Gln | missense variant | - | NC_000008.11:g.107958157G>T | gnomAD |
rs1429320861 | p.Val181Ala | missense variant | - | NC_000008.11:g.107958154A>G | gnomAD |
COSM3643893 | p.Val181Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107958154A>C | NCI-TCGA Cosmic |
rs1173067908 | p.Val181Leu | missense variant | - | NC_000008.11:g.107958155C>A | gnomAD |
NCI-TCGA novel | p.Lys182Asn | missense variant | - | NC_000008.11:g.107958150T>A | NCI-TCGA |
NCI-TCGA novel | p.Lys182Glu | missense variant | - | NC_000008.11:g.107958152T>C | NCI-TCGA |
NCI-TCGA novel | p.Asp183Tyr | missense variant | - | NC_000008.11:g.107958149C>A | NCI-TCGA |
rs754851458 | p.Asp183Asn | missense variant | - | NC_000008.11:g.107958149C>T | ExAC,gnomAD |
COSM258679 | p.Asp183Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107958147G>T | NCI-TCGA Cosmic |
rs766158953 | p.Thr184Ala | missense variant | - | NC_000008.11:g.107958146T>C | ExAC,TOPMed,gnomAD |
rs1211522253 | p.Ile185Thr | missense variant | - | NC_000008.11:g.107958142A>G | gnomAD |
rs750305724 | p.Ile185Val | missense variant | - | NC_000008.11:g.107958143T>C | TOPMed,gnomAD |
rs601558 | p.Leu186Gln | missense variant | - | NC_000008.11:g.107958139A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs601558 | p.Leu186Pro | missense variant | - | NC_000008.11:g.107958139A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1312739300 | p.Leu186Val | missense variant | - | NC_000008.11:g.107958140G>C | gnomAD |
rs1206425262 | p.Pro188Thr | missense variant | - | NC_000008.11:g.107958134G>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Thr189Ala | missense variant | - | NC_000008.11:g.107958131T>C | NCI-TCGA |
NCI-TCGA novel | p.Ala191Asp | missense variant | - | NC_000008.11:g.107958124G>T | NCI-TCGA |
rs1277215213 | p.Glu192Ala | missense variant | - | NC_000008.11:g.107958121T>G | gnomAD |
rs1379826246 | p.Ser193Thr | missense variant | - | NC_000008.11:g.107958119A>T | gnomAD |
rs773684845 | p.Met198Val | missense variant | - | NC_000008.11:g.107958104T>C | ExAC,gnomAD |
rs1395955480 | p.Met198Thr | missense variant | - | NC_000008.11:g.107958103A>G | gnomAD |
rs765819930 | p.Met200Val | missense variant | - | NC_000008.11:g.107958098T>C | ExAC,gnomAD |
rs777116789 | p.Pro204Arg | missense variant | - | NC_000008.11:g.107958085G>C | ExAC,gnomAD |
rs1034128365 | p.Pro204Ser | missense variant | - | NC_000008.11:g.107958086G>A | TOPMed |
rs1023648455 | p.Thr209Ile | missense variant | - | NC_000008.11:g.107901181G>A | TOPMed,gnomAD |
rs181500705 | p.Lys211Asn | missense variant | - | NC_000008.11:g.107901174C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1012287687 | p.Lys211Arg | missense variant | - | NC_000008.11:g.107901175T>C | TOPMed |
NCI-TCGA novel | p.Lys211Gln | missense variant | - | NC_000008.11:g.107901176T>G | NCI-TCGA |
rs773694222 | p.Lys211Glu | missense variant | - | NC_000008.11:g.107901176T>C | ExAC,gnomAD |
rs188606837 | p.Ala212Thr | missense variant | - | NC_000008.11:g.107901173C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs759429253 | p.Ala212Val | missense variant | - | NC_000008.11:g.107901172G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu214Asp | missense variant | - | NC_000008.11:g.107901165C>A | NCI-TCGA |
COSM3833853 | p.Glu214Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107901165C>G | NCI-TCGA Cosmic |
COSM3924470 | p.Glu214Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107901167C>T | NCI-TCGA Cosmic |
COSM748836 | p.Lys215Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107901162C>G | NCI-TCGA Cosmic |
rs1462832583 | p.Arg216Ser | missense variant | - | NC_000008.11:g.107901159C>G | TOPMed |
rs1289590827 | p.Asn217Lys | missense variant | - | NC_000008.11:g.107901156G>T | TOPMed,gnomAD |
rs749323272 | p.Lys218Gln | missense variant | - | NC_000008.11:g.107901155T>G | ExAC,gnomAD |
rs902694121 | p.Lys218Asn | missense variant | - | NC_000008.11:g.107901153C>G | TOPMed |
rs779998286 | p.Lys220Asn | missense variant | - | NC_000008.11:g.107901147C>A | NCI-TCGA |
rs779998286 | p.Lys220Asn | missense variant | - | NC_000008.11:g.107901147C>A | ExAC,gnomAD |
rs769669271 | p.Lys221Asn | missense variant | - | NC_000008.11:g.107901144T>A | ExAC,gnomAD |
rs745711987 | p.Arg222Thr | missense variant | - | NC_000008.11:g.107901142C>G | ExAC |
NCI-TCGA novel | p.Leu224Met | missense variant | - | NC_000008.11:g.107901137G>T | NCI-TCGA |
rs780932645 | p.Leu224Pro | missense variant | - | NC_000008.11:g.107901136A>G | ExAC,gnomAD |
rs1337639104 | p.Arg227Gly | missense variant | - | NC_000008.11:g.107901128T>C | TOPMed |
rs757000039 | p.Ala228Ser | missense variant | - | NC_000008.11:g.107901125C>A | ExAC,TOPMed,gnomAD |
rs777423714 | p.Ala228Asp | missense variant | - | NC_000008.11:g.107901124G>T | ExAC,TOPMed,gnomAD |
rs777423714 | p.Ala228Val | missense variant | - | NC_000008.11:g.107901124G>A | ExAC,TOPMed,gnomAD |
rs1488233215 | p.Gln231Glu | missense variant | - | NC_000008.11:g.107901116G>C | gnomAD |
NCI-TCGA novel | p.Ser233Ile | missense variant | - | NC_000008.11:g.107901109C>A | NCI-TCGA |
NCI-TCGA novel | p.Ser233Arg | missense variant | - | NC_000008.11:g.107901108G>T | NCI-TCGA |
rs564925416 | p.Ser233Gly | missense variant | - | NC_000008.11:g.107901110T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
COSM1094776 | p.Ser233Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.107901109C>T | NCI-TCGA Cosmic |
rs761237646 | p.Val234Ile | missense variant | - | NC_000008.11:g.107901107C>T | ExAC,TOPMed,gnomAD |
rs546074157 | p.Val234Ala | missense variant | - | NC_000008.11:g.107901106A>G | 1000Genomes,ExAC,gnomAD |
rs761237646 | p.Val234Ile | missense variant | - | NC_000008.11:g.107901107C>T | NCI-TCGA |
rs1274451054 | p.Leu236Arg | missense variant | - | NC_000008.11:g.107901100A>C | TOPMed |
rs762180746 | p.Leu236Val | missense variant | - | NC_000008.11:g.107901101G>C | ExAC,gnomAD |
rs768883871 | p.Asp239Ala | missense variant | - | NC_000008.11:g.107901091T>G | ExAC,gnomAD |
rs890171455 | p.Arg240Thr | missense variant | - | NC_000008.11:g.107901088C>G | TOPMed |
rs1296285320 | p.Arg240Ter | stop gained | - | NC_000008.11:g.107901089T>A | gnomAD |
rs370736291 | p.Ala241Thr | missense variant | - | NC_000008.11:g.107901086C>T | ESP,TOPMed,gnomAD |
rs769760824 | p.Gln243Pro | missense variant | - | NC_000008.11:g.107901079T>G | ExAC,gnomAD |