rs770545182 | p.Ala3Ser | missense variant | - | NC_000008.11:g.118111040C>A | ExAC,gnomAD |
rs61757381 | p.Lys4Arg | missense variant | - | NC_000008.11:g.118111036T>C | gnomAD |
rs1266937798 | p.Lys4Gln | missense variant | - | NC_000008.11:g.118111037T>G | gnomAD |
COSM3896356 | p.Lys5Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118111033T>G | NCI-TCGA Cosmic |
rs1226048368 | p.Lys5Gln | missense variant | - | NC_000008.11:g.118111034T>G | gnomAD |
rs200815125 | p.Arg6Pro | missense variant | - | NC_000008.11:g.118111030C>G | ExAC,gnomAD |
rs200815125 | p.Arg6Leu | missense variant | - | NC_000008.11:g.118111030C>A | ExAC,gnomAD |
rs772883826 | p.Ile9Phe | missense variant | - | NC_000008.11:g.118111022T>A | ExAC,TOPMed,gnomAD |
rs769143352 | p.Leu11Val | missense variant | - | NC_000008.11:g.118111016G>C | ExAC |
rs780457793 | p.Ser12Leu | missense variant | - | NC_000008.11:g.118111012G>A | ExAC,gnomAD |
rs1291059341 | p.Ala13Gly | missense variant | - | NC_000008.11:g.118111009G>C | gnomAD |
rs915340058 | p.Ser15Cys | missense variant | - | NC_000008.11:g.118111003G>C | TOPMed,gnomAD |
rs545138851 | p.Cys16Phe | missense variant | - | NC_000008.11:g.118111000C>A | 1000Genomes,ExAC,gnomAD |
rs751570075 | p.Leu19Phe | missense variant | - | NC_000008.11:g.118110992G>A | ExAC,TOPMed,gnomAD |
rs1064795778 | p.Phe21Ter | stop gained | - | NC_000008.11:g.118110985_118110986insTT | - |
RCV000483890 | p.Phe21Ter | nonsense | - | NC_000008.11:g.118110985_118110986insTT | ClinVar |
rs200276819 | p.Phe23Leu | missense variant | - | NC_000008.11:g.118110978G>T | ExAC,TOPMed,gnomAD |
rs1306372997 | p.Gly24Val | missense variant | - | NC_000008.11:g.118110976C>A | gnomAD |
rs752644731 | p.Gly25Arg | missense variant | - | NC_000008.11:g.118110974C>G | ExAC,TOPMed,gnomAD |
rs765050783 | p.Gly25Asp | missense variant | - | NC_000008.11:g.118110973C>T | ExAC,TOPMed,gnomAD |
VAR_012815 | p.Gln27Lys | Missense | Hereditary multiple exostoses 1 (EXT1) [MIM:133700] | - | UniProt |
rs533027765 | p.Ala30Thr | missense variant | - | NC_000008.11:g.118110959C>T | 1000Genomes,ExAC,gnomAD |
rs766091879 | p.Ser31Leu | missense variant | - | NC_000008.11:g.118110955G>A | ExAC,gnomAD |
COSM6112161 | p.Ser31Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110956A>G | NCI-TCGA Cosmic |
rs147654656 | p.Ser33Arg | missense variant | - | NC_000008.11:g.118110948G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs147654656 | p.Ser33Arg | missense variant | - | NC_000008.11:g.118110948G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs771543794 | p.His34Tyr | missense variant | - | NC_000008.11:g.118110947G>A | ExAC,gnomAD |
rs749767023 | p.His34Arg | missense variant | - | NC_000008.11:g.118110946T>C | ExAC,gnomAD |
rs775906242 | p.Ser35Arg | missense variant | - | NC_000008.11:g.118110942G>C | ExAC,TOPMed,gnomAD |
RCV000704322 | p.Ser35Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110944del | ClinVar |
rs746188012 | p.Arg36Leu | missense variant | - | NC_000008.11:g.118110940C>A | ExAC,TOPMed,gnomAD |
rs770352704 | p.Arg36Trp | missense variant | - | NC_000008.11:g.118110941G>A | ExAC,TOPMed,gnomAD |
rs746188012 | p.Arg36Gln | missense variant | - | NC_000008.11:g.118110940C>T | ExAC,TOPMed,gnomAD |
rs757411850 | p.Arg37Lys | missense variant | - | NC_000008.11:g.118110937C>T | ExAC,TOPMed,gnomAD |
rs747288908 | p.Glu38Gln | missense variant | - | NC_000008.11:g.118110935C>G | ExAC,gnomAD |
rs794726874 | p.Glu38Gly | missense variant | - | NC_000008.11:g.118110934T>C | TOPMed,gnomAD |
RCV000173067 | p.Glu38Gly | missense variant | - | NC_000008.11:g.118110934T>C | ClinVar |
rs78429222 | p.Glu39Asp | missense variant | - | NC_000008.11:g.118110930T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM1095384 | p.Glu39Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110932C>T | NCI-TCGA Cosmic |
rs1186563531 | p.Ser41Arg | missense variant | - | NC_000008.11:g.118110924G>T | gnomAD |
RCV000120870 | p.Ser41Asn | missense variant | - | NC_000008.11:g.118110925C>T | ClinVar |
rs199862937 | p.Ser41Asn | missense variant | - | NC_000008.11:g.118110925C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs754998142 | p.Gly42Asp | missense variant | - | NC_000008.11:g.118110922C>T | ExAC,TOPMed,gnomAD |
rs368382074 | p.Gly42Ser | missense variant | - | NC_000008.11:g.118110923C>T | ESP,ExAC,TOPMed,gnomAD |
rs1199393037 | p.Arg43Lys | missense variant | - | NC_000008.11:g.118110919C>T | gnomAD |
rs1482036956 | p.Arg43Ser | missense variant | - | NC_000008.11:g.118110918C>G | gnomAD |
rs1182285664 | p.Asn44Asp | missense variant | - | NC_000008.11:g.118110917T>C | TOPMed |
NCI-TCGA novel | p.Gly45Asp | missense variant | - | NC_000008.11:g.118110913C>T | NCI-TCGA |
NCI-TCGA novel | p.His47Tyr | missense variant | - | NC_000008.11:g.118110908G>A | NCI-TCGA |
rs1052157677 | p.His47Asp | missense variant | - | NC_000008.11:g.118110908G>C | TOPMed,gnomAD |
COSM1095383 | p.Pro49His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110901G>T | NCI-TCGA Cosmic |
rs150846666 | p.Pro49Arg | missense variant | - | NC_000008.11:g.118110901G>C | ESP,ExAC,TOPMed,gnomAD |
rs772811741 | p.Ser50Gly | missense variant | - | NC_000008.11:g.118110899T>C | ExAC,TOPMed,gnomAD |
RCV000268096 | p.Ser50Gly | missense variant | Hereditary Multiple Osteochondromatosis | NC_000008.11:g.118110899T>C | ClinVar |
rs761175866 | p.Pro51Arg | missense variant | - | NC_000008.11:g.118110895G>C | ExAC,gnomAD |
rs761175866 | p.Pro51Leu | missense variant | - | NC_000008.11:g.118110895G>A | ExAC,gnomAD |
rs375138320 | p.Pro51Ser | missense variant | - | NC_000008.11:g.118110896G>A | ESP,ExAC,gnomAD |
rs371717237 | p.Asp52Tyr | missense variant | - | NC_000008.11:g.118110893C>A | ESP,ExAC,TOPMed,gnomAD |
rs1390552631 | p.His53Gln | missense variant | - | NC_000008.11:g.118110888A>T | TOPMed |
rs770218370 | p.Phe54Leu | missense variant | - | NC_000008.11:g.118110885G>T | ExAC,TOPMed,gnomAD |
rs1187165813 | p.Trp55Gly | missense variant | - | NC_000008.11:g.118110884A>C | TOPMed,gnomAD |
rs368004125 | p.Pro56Ser | missense variant | - | NC_000008.11:g.118110881G>A | ESP,ExAC,gnomAD |
rs142365518 | p.Ala61Pro | missense variant | - | NC_000008.11:g.118110866C>G | ESP,TOPMed |
rs373794512 | p.Leu62Met | missense variant | - | NC_000008.11:g.118110863G>T | ESP,ExAC,TOPMed,gnomAD |
rs187891947 | p.Arg63Leu | missense variant | - | NC_000008.11:g.118110859C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs187891947 | p.Arg63His | missense variant | - | NC_000008.11:g.118110859C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs187891947 | p.Arg63Pro | missense variant | - | NC_000008.11:g.118110859C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs772363578 | p.Pro64Ser | missense variant | - | NC_000008.11:g.118110857G>A | ExAC,gnomAD |
rs748138510 | p.Pro64Leu | missense variant | - | NC_000008.11:g.118110856G>A | ExAC,gnomAD |
rs1242925512 | p.Val66Gly | missense variant | - | NC_000008.11:g.118110850A>C | TOPMed |
rs371817652 | p.Pro67Arg | missense variant | - | NC_000008.11:g.118110847G>C | ESP,ExAC,TOPMed,gnomAD |
rs371817652 | p.Pro67His | missense variant | - | NC_000008.11:g.118110847G>T | ESP,ExAC,TOPMed,gnomAD |
rs1177400977 | p.Asp69Gly | missense variant | - | NC_000008.11:g.118110841T>C | gnomAD |
rs367543871 | p.Gln70His | missense variant | - | NC_000008.11:g.118110837T>A | ESP,ExAC,TOPMed,gnomAD |
rs1272922541 | p.Leu71Phe | missense variant | - | NC_000008.11:g.118110834C>G | gnomAD |
rs150818931 | p.Glu72Lys | missense variant | - | NC_000008.11:g.118110833C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
RCV000822823 | p.Glu72Lys | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110833C>T | ClinVar |
rs750250958 | p.Asn73Lys | missense variant | - | NC_000008.11:g.118110828G>T | ExAC,gnomAD |
RCV000630811 | p.Asn73Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110832del | ClinVar |
rs1265397820 | p.Asn73Ser | missense variant | - | NC_000008.11:g.118110829T>C | gnomAD |
NCI-TCGA novel | p.Glu74Gln | missense variant | - | NC_000008.11:g.118110827C>G | NCI-TCGA |
rs1318780364 | p.Glu74Gly | missense variant | - | NC_000008.11:g.118110826T>C | gnomAD |
rs867664035 | p.Asp75Tyr | missense variant | - | NC_000008.11:g.118110824C>A | gnomAD |
rs867664035 | p.Asp75Asn | missense variant | - | NC_000008.11:g.118110824C>T | gnomAD |
rs1409426317 | p.Ser76Tyr | missense variant | - | NC_000008.11:g.118110820G>T | gnomAD |
rs768341134 | p.Ser77Arg | missense variant | - | NC_000008.11:g.118110816G>T | ExAC,gnomAD |
rs767034189 | p.Ser77Gly | missense variant | - | NC_000008.11:g.118110818T>C | ExAC,gnomAD |
rs763650236 | p.Val78Met | missense variant | - | NC_000008.11:g.118110815C>T | ExAC,gnomAD |
COSM3833931 | p.Val78Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110814A>T | NCI-TCGA Cosmic |
rs1456372365 | p.Ser81Cys | missense variant | - | NC_000008.11:g.118110805G>C | gnomAD |
rs1456372365 | p.Ser81Phe | missense variant | - | NC_000008.11:g.118110805G>A | gnomAD |
rs760030507 | p.Pro82Ser | missense variant | - | NC_000008.11:g.118110803G>A | ExAC,gnomAD |
rs1038504618 | p.Pro82Leu | missense variant | - | NC_000008.11:g.118110802G>A | TOPMed,gnomAD |
rs1249187315 | p.Arg83Gly | missense variant | - | NC_000008.11:g.118110800G>C | gnomAD |
RCV000598686 | p.Arg83Ter | frameshift | - | NC_000008.11:g.118110805dup | ClinVar |
NCI-TCGA novel | p.Arg83GlyPheSerTerUnkUnk | frameshift | - | NC_000008.11:g.118110800G>- | NCI-TCGA |
NCI-TCGA novel | p.Arg83ProPheSerTerUnkUnkUnk | frameshift | - | NC_000008.11:g.118110799_118110800insG | NCI-TCGA |
rs1064793753 | p.Gln84Ter | stop gained | - | NC_000008.11:g.118110797G>A | - |
RCV000483829 | p.Gln84Ter | nonsense | - | NC_000008.11:g.118110797G>A | ClinVar |
rs376231630 | p.Gln84His | missense variant | - | NC_000008.11:g.118110795C>G | ESP,ExAC,TOPMed,gnomAD |
rs201918002 | p.Gln84Arg | missense variant | - | NC_000008.11:g.118110796T>C | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Ser90Tyr | missense variant | - | NC_000008.11:g.118110778G>T | NCI-TCGA |
rs779457389 | p.Ser90Cys | missense variant | - | NC_000008.11:g.118110778G>C | gnomAD |
rs772121819 | p.Ile92Phe | missense variant | - | NC_000008.11:g.118110773T>A | ExAC |
rs1227875610 | p.Tyr93Ter | stop gained | - | NC_000008.11:g.118110768G>C | gnomAD |
rs1261383828 | p.Tyr93Cys | missense variant | - | NC_000008.11:g.118110769T>C | gnomAD |
RCV000630816 | p.Tyr93Ter | nonsense | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110768G>C | ClinVar |
rs1402667727 | p.Tyr93Asn | missense variant | - | NC_000008.11:g.118110770A>T | TOPMed |
rs1327278823 | p.Lys94Arg | missense variant | - | NC_000008.11:g.118110766T>C | gnomAD |
RCV000688480 | p.Gly95Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110767dup | ClinVar |
COSM1095382 | p.Lys97Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110757T>G | NCI-TCGA Cosmic |
rs1397695425 | p.Arg99Cys | missense variant | - | NC_000008.11:g.118110752G>A | TOPMed |
rs778849200 | p.Arg99Leu | missense variant | - | NC_000008.11:g.118110751C>A | ExAC,TOPMed,gnomAD |
rs768927789 | p.Met100Ile | missense variant | - | NC_000008.11:g.118110747C>G | ExAC,gnomAD |
rs1331448500 | p.Met100Leu | missense variant | - | NC_000008.11:g.118110749T>G | gnomAD |
rs1350817754 | p.Glu101Gln | missense variant | - | NC_000008.11:g.118110746C>G | gnomAD |
rs1384997375 | p.Glu101Gly | missense variant | - | NC_000008.11:g.118110745T>C | gnomAD |
COSM202327 | p.Cys103Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110739C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Cys103ValPheSerTerUnkUnk | frameshift | - | NC_000008.11:g.118110741_118110742insGACT | NCI-TCGA |
rs1242235773 | p.Cys103Arg | missense variant | - | NC_000008.11:g.118110740A>G | gnomAD |
RCV000627629 | p.Asp105Ter | frameshift | - | NC_000008.11:g.118110734del | ClinVar |
COSM1330345 | p.Phe106Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110731A>T | NCI-TCGA Cosmic |
rs1178109514 | p.Lys110Arg | missense variant | - | NC_000008.11:g.118110718T>C | gnomAD |
NCI-TCGA novel | p.Asn112LysPheSerTerUnkUnk | frameshift | - | NC_000008.11:g.118110711_118110712insT | NCI-TCGA |
rs750116273 | p.Gly113Ser | missense variant | - | NC_000008.11:g.118110710C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly113Asp | missense variant | - | NC_000008.11:g.118110709C>T | NCI-TCGA |
rs1377414352 | p.Phe114Leu | missense variant | - | NC_000008.11:g.118110707A>G | gnomAD |
rs146127753 | p.Lys115Thr | missense variant | - | NC_000008.11:g.118110703T>G | ESP,ExAC,TOPMed,gnomAD |
rs146127753 | p.Lys115Arg | missense variant | - | NC_000008.11:g.118110703T>C | ESP,ExAC,TOPMed,gnomAD |
rs201368821 | p.Lys115Asn | missense variant | - | NC_000008.11:g.118110702T>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs371163252 | p.Val116Phe | missense variant | - | NC_000008.11:g.118110701C>A | ESP,TOPMed |
COSM3833930 | p.Tyr117Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110698A>T | NCI-TCGA Cosmic |
rs763562992 | p.Tyr117Cys | missense variant | - | NC_000008.11:g.118110697T>C | ExAC,gnomAD |
rs1208144072 | p.Val118Ile | missense variant | - | NC_000008.11:g.118110695C>T | gnomAD |
rs1360494729 | p.Tyr119Cys | missense variant | - | NC_000008.11:g.118110691T>C | gnomAD |
rs1415760714 | p.Tyr119His | missense variant | - | NC_000008.11:g.118110692A>G | gnomAD |
RCV000002605 | p.Tyr119Ter | nonsense | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110690G>T | ClinVar |
rs119103289 | p.Tyr119Ter | stop gained | - | NC_000008.11:g.118110690G>T | - |
rs377676265 | p.Pro120Ser | missense variant | - | NC_000008.11:g.118110689G>A | ESP,ExAC,gnomAD |
rs752226935 | p.Pro120Leu | missense variant | - | NC_000008.11:g.118110688G>A | ExAC,gnomAD |
RCV000482388 | p.Gln121Ter | frameshift | - | NC_000008.11:g.118110685del | ClinVar |
rs1204529411 | p.Gln121Leu | missense variant | - | NC_000008.11:g.118110685T>A | gnomAD |
rs773394301 | p.Lys123Arg | missense variant | - | NC_000008.11:g.118110679T>C | ExAC,gnomAD |
rs773394301 | p.Lys123Thr | missense variant | - | NC_000008.11:g.118110679T>G | ExAC,gnomAD |
rs767986411 | p.Gly124Arg | missense variant | - | NC_000008.11:g.118110677C>T | ExAC,gnomAD |
rs761940324 | p.Gly124Glu | missense variant | - | NC_000008.11:g.118110676C>T | ExAC,gnomAD |
COSM1095380 | p.Glu125Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110672C>A | NCI-TCGA Cosmic |
rs143019224 | p.Ile127Asn | missense variant | - | NC_000008.11:g.118110667A>T | ESP,ExAC |
rs587778298 | p.Ala128Ser | missense variant | - | NC_000008.11:g.118110665C>A | ExAC,gnomAD |
COSM3896354 | p.Ala128Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110665C>T | NCI-TCGA Cosmic |
RCV000120871 | p.Ala128Ser | missense variant | - | NC_000008.11:g.118110665C>A | ClinVar |
rs775712594 | p.Glu129Lys | missense variant | - | NC_000008.11:g.118110662C>T | ExAC,gnomAD |
rs1249105856 | p.Ser130Asn | missense variant | - | NC_000008.11:g.118110658C>T | TOPMed |
rs1414678503 | p.Gln132Ter | stop gained | - | NC_000008.11:g.118110653G>A | gnomAD |
NCI-TCGA novel | p.Asn133His | missense variant | - | NC_000008.11:g.118110650T>G | NCI-TCGA |
rs938133710 | p.Ile134Val | missense variant | - | NC_000008.11:g.118110647T>C | TOPMed |
rs1171135662 | p.Ala137Thr | missense variant | - | NC_000008.11:g.118110638C>T | gnomAD |
COSM1496744 | p.Glu139Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000008.11:g.118110632C>A | NCI-TCGA Cosmic |
rs769557488 | p.Gly140Val | missense variant | - | NC_000008.11:g.118110628C>A | ExAC,gnomAD |
rs1188458258 | p.Phe143Ser | missense variant | - | NC_000008.11:g.118110619A>G | gnomAD |
rs1316804046 | p.Tyr144Cys | missense variant | - | NC_000008.11:g.118110616T>C | gnomAD |
rs1245037592 | p.Asp147Tyr | missense variant | - | NC_000008.11:g.118110608C>A | gnomAD |
rs1414318910 | p.Ser149Asn | missense variant | - | NC_000008.11:g.118110601C>T | TOPMed |
rs922587596 | p.Gln150Lys | missense variant | - | NC_000008.11:g.118110599G>T | TOPMed |
rs1385688129 | p.Ala151Glu | missense variant | - | NC_000008.11:g.118110595G>T | gnomAD |
rs1402547599 | p.Ala151Ser | missense variant | - | NC_000008.11:g.118110596C>A | TOPMed,gnomAD |
COSM269122 | p.Ala151Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110595G>A | NCI-TCGA Cosmic |
rs1554601534 | p.Cys152Ter | stop gained | - | NC_000008.11:g.118110591G>T | - |
RCV000579269 | p.Cys152Ter | nonsense | - | NC_000008.11:g.118110591G>T | ClinVar |
rs757114989 | p.Phe154Leu | missense variant | - | NC_000008.11:g.118110587A>G | ExAC,TOPMed,gnomAD |
COSM3644543 | p.Phe154Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110585A>T | NCI-TCGA Cosmic |
rs777356297 | p.Leu156Pro | missense variant | - | NC_000008.11:g.118110580A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Leu156Met | missense variant | - | NC_000008.11:g.118110581G>T | NCI-TCGA |
rs758078822 | p.Leu158Val | missense variant | - | NC_000008.11:g.118110575G>C | ExAC,TOPMed,gnomAD |
rs975395118 | p.Thr160Asn | missense variant | - | NC_000008.11:g.118110568G>T | TOPMed |
rs1410364563 | p.Leu161Ser | missense variant | - | NC_000008.11:g.118110565A>G | TOPMed |
rs752137032 | p.Asp162Asn | missense variant | - | NC_000008.11:g.118110563C>T | ExAC,gnomAD |
rs544496246 | p.Arg163Gly | missense variant | - | NC_000008.11:g.118110560T>C | TOPMed |
COSM6179657 | p.Asp164Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110555G>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asp164Tyr | missense variant | - | NC_000008.11:g.118110557C>A | NCI-TCGA |
NCI-TCGA novel | p.Asp164Ala | missense variant | - | NC_000008.11:g.118110556T>G | NCI-TCGA |
VAR_012816 | p.Asp164His | Missense | Hereditary multiple exostoses 1 (EXT1) [MIM:133700] | - | UniProt |
rs1227559201 | p.Ser167Ala | missense variant | - | NC_000008.11:g.118110548A>C | gnomAD |
COSM1313666 | p.Gln169Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000008.11:g.118110542G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Gln169Arg | missense variant | - | NC_000008.11:g.118110541T>C | NCI-TCGA |
rs764741916 | p.Tyr170Cys | missense variant | - | NC_000008.11:g.118110538T>C | ExAC,TOPMed,gnomAD |
rs1403919037 | p.His172Tyr | missense variant | - | NC_000008.11:g.118110533G>A | TOPMed |
rs1448140995 | p.Asn173Asp | missense variant | - | NC_000008.11:g.118110530T>C | gnomAD |
RCV000585681 | p.Asn173Ter | nonsense | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110528del | ClinVar |
rs756568263 | p.Arg175Gly | missense variant | - | NC_000008.11:g.118110524T>C | ExAC,gnomAD |
rs762291120 | p.Lys177Glu | missense variant | - | NC_000008.11:g.118110518T>C | ExAC,TOPMed,gnomAD |
RCV000002603 | p.Lys177Ter | frameshift | Chondrosarcoma | NC_000008.11:g.118110513_118110520del | ClinVar |
rs886039561 | p.Gln179Ter | stop gained | - | NC_000008.11:g.118110512G>A | - |
RCV000630805 | p.Gln179Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110514_118110515dup | ClinVar |
RCV000255895 | p.Gln179Ter | nonsense | - | NC_000008.11:g.118110512G>A | ClinVar |
rs774883865 | p.Ser180Thr | missense variant | - | NC_000008.11:g.118110508C>G | ExAC,TOPMed,gnomAD |
COSM292640 | p.Leu181Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110505A>G | NCI-TCGA Cosmic |
COSM3896353 | p.Leu181Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110506G>T | NCI-TCGA Cosmic |
rs763278350 | p.His182Tyr | missense variant | - | NC_000008.11:g.118110503G>A | ExAC |
rs1387642251 | p.Asn186Thr | missense variant | - | NC_000008.11:g.118110490T>G | TOPMed,gnomAD |
rs1387642251 | p.Asn186Ser | missense variant | - | NC_000008.11:g.118110490T>C | TOPMed,gnomAD |
rs775696069 | p.Arg188Met | missense variant | - | NC_000008.11:g.118110484C>A | ExAC,gnomAD |
rs775696069 | p.Arg188Lys | missense variant | - | NC_000008.11:g.118110484C>T | ExAC,gnomAD |
RCV000685852 | p.Leu191Ser | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110475A>G | ClinVar |
COSM6179658 | p.Asn194Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110466T>C | NCI-TCGA Cosmic |
RCV000521659 | p.Asn194Ter | nonsense | - | NC_000008.11:g.118110472dup | ClinVar |
rs776678803 | p.Ser197Tyr | missense variant | - | NC_000008.11:g.118110457G>T | ExAC,gnomAD |
rs776678803 | p.Ser197Cys | missense variant | - | NC_000008.11:g.118110457G>C | ExAC,gnomAD |
rs1184228548 | p.Ser197Ala | missense variant | - | NC_000008.11:g.118110458A>C | gnomAD |
NCI-TCGA novel | p.Gly198Asp | missense variant | - | NC_000008.11:g.118110454C>T | NCI-TCGA |
rs746766470 | p.Thr199Ser | missense variant | - | NC_000008.11:g.118110451G>C | ExAC,gnomAD |
rs757995060 | p.Val207Gly | missense variant | - | NC_000008.11:g.118110427A>C | ExAC,gnomAD |
rs1228859857 | p.Val207Met | missense variant | - | NC_000008.11:g.118110428C>T | TOPMed,gnomAD |
rs1217793768 | p.Gly208Glu | missense variant | - | NC_000008.11:g.118110424C>T | gnomAD |
rs747844962 | p.Ile211Ser | missense variant | - | NC_000008.11:g.118110415A>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly212Cys | missense variant | - | NC_000008.11:g.118110413C>A | NCI-TCGA |
rs146407656 | p.Gly212Ala | missense variant | - | NC_000008.11:g.118110412C>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala214Thr | missense variant | - | NC_000008.11:g.118110407C>T | NCI-TCGA |
rs750877327 | p.Met215Leu | missense variant | - | NC_000008.11:g.118110404T>A | ExAC,gnomAD |
NCI-TCGA novel | p.Met215LysPheSerTerUnk | frameshift | - | NC_000008.11:g.118110377_118110405CAGTACTGATGCTGGCTTTGGCCAGCATC>- | NCI-TCGA |
VAR_012817 | p.Met215_Ile221del | inframe_deletion | Hereditary multiple exostoses 1 (EXT1) [MIM:133700] | - | UniProt |
VAR_012818 | p.Met215_Ser222delinsIle | deletion_insertion | - | - | UniProt |
rs781678414 | p.Leu216Val | missense variant | - | NC_000008.11:g.118110401G>C | ExAC,TOPMed,gnomAD |
rs757740272 | p.Ala217Val | missense variant | - | NC_000008.11:g.118110397G>A | ExAC,gnomAD |
RCV000630803 | p.Lys218Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110400_118110403dup | ClinVar |
RCV000630810 | p.Lys218Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110385_118110397del | ClinVar |
rs1405346511 | p.Ala219Val | missense variant | - | NC_000008.11:g.118110391G>A | gnomAD |
RCV000622308 | p.Ser220Gly | missense variant | Inborn genetic diseases | NC_000008.11:g.118110389T>C | ClinVar |
rs1554601506 | p.Ser220Gly | missense variant | - | NC_000008.11:g.118110389T>C | - |
rs751926824 | p.Ile221Ser | missense variant | - | NC_000008.11:g.118110385A>C | ExAC,gnomAD |
rs1473004303 | p.Ser222Thr | missense variant | - | NC_000008.11:g.118110382C>G | gnomAD |
rs149242997 | p.Thr223Ile | missense variant | - | NC_000008.11:g.118110379G>A | ESP,ExAC,TOPMed,gnomAD |
rs1336562431 | p.Phe226Leu | missense variant | - | NC_000008.11:g.118110369G>T | gnomAD |
COSM1095378 | p.Arg227Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110367C>T | NCI-TCGA Cosmic |
rs753036738 | p.Asn229Ser | missense variant | - | NC_000008.11:g.118110361T>C | ExAC,gnomAD |
rs1003279912 | p.Ile234Val | missense variant | - | NC_000008.11:g.118110347T>C | TOPMed,gnomAD |
rs1003279912 | p.Ile234Phe | missense variant | - | NC_000008.11:g.118110347T>A | TOPMed,gnomAD |
VAR_012819 | p.Pro235_Lys239del | inframe_deletion | - | - | UniProt |
rs1451032732 | p.Leu236Val | missense variant | - | NC_000008.11:g.118110341G>C | gnomAD |
rs759603929 | p.Asp240His | missense variant | - | NC_000008.11:g.118110329C>G | ExAC,gnomAD |
rs906230630 | p.Pro242Leu | missense variant | - | NC_000008.11:g.118110322G>A | TOPMed |
NCI-TCGA novel | p.Arg243Ser | missense variant | - | NC_000008.11:g.118110318C>A | NCI-TCGA |
rs1293618270 | p.Gly246Glu | missense variant | - | NC_000008.11:g.118110310C>T | TOPMed |
rs1287362675 | p.Gly246Trp | missense variant | - | NC_000008.11:g.118110311C>A | gnomAD |
rs1380196220 | p.Arg248Lys | missense variant | - | NC_000008.11:g.118110304C>T | TOPMed |
rs920291906 | p.Phe250Ile | missense variant | - | NC_000008.11:g.118110299A>T | TOPMed,gnomAD |
rs1294549175 | p.Leu251Met | missense variant | - | NC_000008.11:g.118110296A>T | gnomAD |
rs1436385815 | p.Phe253Leu | missense variant | - | NC_000008.11:g.118110290A>G | TOPMed,gnomAD |
rs1433419013 | p.Asn254Tyr | missense variant | - | NC_000008.11:g.118110287T>A | gnomAD |
rs1348650954 | p.Thr255Asn | missense variant | - | NC_000008.11:g.118110283G>T | gnomAD |
rs768201929 | p.Pro258Ala | missense variant | - | NC_000008.11:g.118110275G>C | ExAC,TOPMed,gnomAD |
rs768201929 | p.Pro258Ser | missense variant | - | NC_000008.11:g.118110275G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Pro258Leu | missense variant | - | NC_000008.11:g.118110274G>A | NCI-TCGA |
COSM453913 | p.Lys261Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.118110266T>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Tyr262His | missense variant | - | NC_000008.11:g.118110263A>G | NCI-TCGA |
rs1481574908 | p.Met263Val | missense variant | - | NC_000008.11:g.118110260T>C | gnomAD |
rs377162411 | p.Leu264Gln | missense variant | - | NC_000008.11:g.118110256A>T | ESP,ExAC,gnomAD |
rs779457224 | p.Leu264Val | missense variant | - | NC_000008.11:g.118110257G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Val265Ile | missense variant | - | NC_000008.11:g.118110254C>T | NCI-TCGA |
RCV000690444 | p.Phe266Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110249del | ClinVar |
rs1554601492 | p.Gly268Arg | missense variant | - | NC_000008.11:g.118110245C>G | - |
RCV000255528 | p.Gly268Glu | missense variant | - | NC_000008.11:g.118110244C>T | ClinVar |
RCV000520277 | p.Gly268Arg | missense variant | - | NC_000008.11:g.118110245C>G | ClinVar |
rs886039352 | p.Gly268Glu | missense variant | - | NC_000008.11:g.118110244C>T | - |
rs1244929754 | p.Arg270Ser | missense variant | - | NC_000008.11:g.118110237C>G | gnomAD |
rs1477621319 | p.Arg270Lys | missense variant | - | NC_000008.11:g.118110238C>T | gnomAD |
rs1064793786 | p.Tyr271Cys | missense variant | - | NC_000008.11:g.118110235T>C | - |
RCV000486275 | p.Tyr271Cys | missense variant | - | NC_000008.11:g.118110235T>C | ClinVar |
rs1185024233 | p.Thr273Arg | missense variant | - | NC_000008.11:g.118110229G>C | TOPMed |
rs752153917 | p.Thr273Ala | missense variant | - | NC_000008.11:g.118110230T>C | ExAC,TOPMed,gnomAD |
RCV000397830 | p.Gly274Ter | frameshift | - | NC_000008.11:g.118110227_118110228del | ClinVar |
rs778280138 | p.Ile275Val | missense variant | - | NC_000008.11:g.118110224T>C | ExAC,TOPMed,gnomAD |
rs778280138 | p.Ile275Leu | missense variant | - | NC_000008.11:g.118110224T>A | ExAC,TOPMed,gnomAD |
rs1038559683 | p.Gly276Glu | missense variant | - | NC_000008.11:g.118110220C>T | TOPMed |
NCI-TCGA novel | p.Gly276Val | missense variant | - | NC_000008.11:g.118110220C>A | NCI-TCGA |
rs753126504 | p.Asp278Ala | missense variant | - | NC_000008.11:g.118110214T>G | ExAC,gnomAD |
rs1554601483 | p.Arg280Gly | missense variant | - | NC_000008.11:g.118110209T>C | - |
rs1554601483 | p.Arg280Gly | missense variant | Hereditary multiple exostoses 1 (EXT1) | NC_000008.11:g.118110209T>C | UniProt,dbSNP |
VAR_002370 | p.Arg280Gly | missense variant | Hereditary multiple exostoses 1 (EXT1) | NC_000008.11:g.118110209T>C | UniProt |
RCV000630813 | p.Arg280Gly | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110209T>C | ClinVar |
RCV000699208 | p.Arg280Ser | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110207C>G | ClinVar |
VAR_002371 | p.Arg280Ser | Missense | Hereditary multiple exostoses 1 (EXT1) [MIM:133700] | - | UniProt |
rs1383240763 | p.Asn281Asp | missense variant | - | NC_000008.11:g.118110206T>C | TOPMed |
RCV000630814 | p.Leu283Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110202del | ClinVar |
rs1302336455 | p.Tyr284His | missense variant | - | NC_000008.11:g.118110197A>G | gnomAD |
rs1057520608 | p.Tyr284Ter | stop gained | - | NC_000008.11:g.118110195A>T | - |
RCV000800945 | p.Tyr284Ter | nonsense | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110195A>T | ClinVar |
RCV000440581 | p.Tyr284Ter | nonsense | - | NC_000008.11:g.118110195A>T | ClinVar |
RCV000482528 | p.His285Ter | frameshift | - | NC_000008.11:g.118110193dup | ClinVar |
RCV000692334 | p.His285Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.118110193dup | ClinVar |
rs551552671 | p.Val286Leu | missense variant | - | NC_000008.11:g.118110191C>G | 1000Genomes,ExAC,gnomAD |
rs551552671 | p.Val286Phe | missense variant | - | NC_000008.11:g.118110191C>A | 1000Genomes,ExAC,gnomAD |
rs759708614 | p.Glu290Gln | missense variant | - | NC_000008.11:g.118110179C>G | ExAC,gnomAD |
rs1423177713 | p.Asp291Asn | missense variant | - | NC_000008.11:g.118110176C>T | TOPMed |
rs372750330 | p.Asp291Glu | missense variant | - | NC_000008.11:g.118110174G>C | ESP,ExAC,TOPMed,gnomAD |
rs760572042 | p.Leu294Val | missense variant | - | NC_000008.11:g.118110167G>C | ExAC,gnomAD |
rs1318697804 | p.Thr296Asn | missense variant | - | NC_000008.11:g.118110160G>T | gnomAD |
rs773198507 | p.His300Arg | missense variant | - | NC_000008.11:g.118110148T>C | ExAC,gnomAD |
rs1176457130 | p.Asp303Glu | missense variant | - | NC_000008.11:g.118110138G>C | TOPMed,gnomAD |
rs1413726979 | p.Trp304Gly | missense variant | - | NC_000008.11:g.118110137A>C | gnomAD |
NCI-TCGA novel | p.Trp304Cys | missense variant | - | NC_000008.11:g.118110135C>A | NCI-TCGA |
RCV000578854 | p.Gln305Ter | nonsense | - | NC_000008.11:g.118110134G>A | ClinVar |
rs1554601474 | p.Gln305Ter | stop gained | - | NC_000008.11:g.118110134G>A | - |
RCV000482859 | p.His307Ter | frameshift | - | NC_000008.11:g.118110133dup | ClinVar |
rs771837506 | p.Lys308Arg | missense variant | - | NC_000008.11:g.118110124T>C | ExAC,TOPMed,gnomAD |
rs908702874 | p.Ser310Phe | missense variant | - | NC_000008.11:g.118110118G>A | TOPMed |
rs774050402 | p.Arg311Leu | missense variant | - | NC_000008.11:g.118110115C>A | ExAC |
rs1191253387 | p.Arg314Ser | missense variant | - | NC_000008.11:g.118110105T>G | TOPMed,gnomAD |
VAR_012820 | p.Asn316Ser | Missense | - | - | UniProt |
rs748945641 | p.Thr317Ser | missense variant | - | NC_000008.11:g.118110097G>C | ExAC,TOPMed,gnomAD |
COSM453911 | p.Glu320GlyPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000008.11:g.118110088T>- | NCI-TCGA Cosmic |
rs1483996169 | p.Glu320Gln | missense variant | - | NC_000008.11:g.118110089C>G | gnomAD |
rs779587832 | p.Lys321Arg | missense variant | - | NC_000008.11:g.118110085T>C | ExAC,gnomAD |
rs1554580158 | p.Tyr324Ter | stop gained | - | NC_000008.11:g.117837192A>T | - |
RCV000521970 | p.Tyr324Ter | nonsense | - | NC_000008.11:g.117837192A>T | ClinVar |
rs1394508840 | p.Arg325Trp | missense variant | - | NC_000008.11:g.117837191G>A | TOPMed,gnomAD |
rs748651137 | p.Arg325Gln | missense variant | - | NC_000008.11:g.117837190C>T | ExAC,TOPMed,gnomAD |
rs755363067 | p.His329Arg | missense variant | - | NC_000008.11:g.117837178T>C | ExAC,TOPMed,gnomAD |
rs755363067 | p.His329Pro | missense variant | - | NC_000008.11:g.117837178T>G | ExAC,TOPMed,gnomAD |
RCV000693405 | p.Asn330Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117837175_117837176insGA | ClinVar |
rs1554580153 | p.Ala331Asp | missense variant | - | NC_000008.11:g.117837172G>T | - |
RCV000531791 | p.Ala331Asp | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117837172G>T | ClinVar |
rs1296350429 | p.Thr332Ser | missense variant | - | NC_000008.11:g.117837170T>A | gnomAD |
rs1386640697 | p.Thr332Ser | missense variant | - | NC_000008.11:g.117837169G>C | TOPMed |
rs201458269 | p.Phe333Leu | missense variant | - | NC_000008.11:g.117837165G>T | TOPMed,gnomAD |
rs201458269 | p.Phe333Leu | missense variant | - | NC_000008.11:g.117837165G>C | TOPMed,gnomAD |
rs538199953 | p.Cys334Tyr | missense variant | - | NC_000008.11:g.117837163C>T | 1000Genomes,ExAC,gnomAD |
rs538199953 | p.Cys334Phe | missense variant | - | NC_000008.11:g.117837163C>A | 1000Genomes,ExAC,gnomAD |
rs756329599 | p.Val336Ile | missense variant | - | NC_000008.11:g.117837158C>T | ExAC,TOPMed,gnomAD |
rs1288618931 | p.Arg338His | missense variant | - | NC_000008.11:g.117837151C>T | TOPMed |
rs119103288 | p.Gly339Asp | missense variant | - | NC_000008.11:g.117837148C>T | - |
RCV000002604 | p.Gly339Asp | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117837148C>T | ClinVar |
rs119103290 | p.Arg340Cys | missense variant | - | NC_000008.11:g.117837146G>A | - |
rs119103287 | p.Arg340His | missense variant | - | NC_000008.11:g.117837145C>T | ExAC,gnomAD |
RCV000255752 | p.Arg340Cys | missense variant | - | NC_000008.11:g.117837146G>A | ClinVar |
RCV000002601 | p.Arg340Leu | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117837145C>A | ClinVar |
RCV000002606 | p.Arg340Cys | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117837146G>A | ClinVar |
RCV000254839 | p.Arg340His | missense variant | - | NC_000008.11:g.117837145C>T | ClinVar |
RCV000630812 | p.Arg340His | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117837145C>T | ClinVar |
rs119103287 | p.Arg340Leu | missense variant | - | NC_000008.11:g.117837145C>A | ExAC,gnomAD |
VAR_002376 | p.Arg340Ser | Missense | Hereditary multiple exostoses 1 (EXT1) [MIM:133700] | - | UniProt |
rs1554580149 | p.Arg341Gly | missense variant | - | NC_000008.11:g.117837143T>C | - |
rs1554580149 | p.Arg341Trp | missense variant | - | NC_000008.11:g.117837143T>A | - |
RCV000520066 | p.Arg341Trp | missense variant | - | NC_000008.11:g.117837143T>A | ClinVar |
RCV000799887 | p.Arg341Gly | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117837143T>C | ClinVar |
COSM453910 | p.Leu342Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117837140G>T | NCI-TCGA Cosmic |
rs978347552 | p.Gly343Trp | missense variant | - | NC_000008.11:g.117837137C>A | gnomAD |
rs1206600641 | p.Gly343Glu | missense variant | - | NC_000008.11:g.117837136C>T | TOPMed |
RCV000630808 | p.Arg346Gly | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117837128T>C | ClinVar |
rs1554580147 | p.Arg346Gly | missense variant | - | NC_000008.11:g.117837128T>C | - |
rs1212142934 | p.Leu348Met | missense variant | - | NC_000008.11:g.117837122G>T | gnomAD |
rs1300462534 | p.Ala354Ser | missense variant | - | NC_000008.11:g.117835548C>A | gnomAD |
RCV000827733 | p.Val356Ile | missense variant | - | NC_000008.11:g.117835542C>T | ClinVar |
RCV000307037 | p.Val356Ile | missense variant | Hereditary Multiple Osteochondromatosis | NC_000008.11:g.117835542C>T | ClinVar |
NCI-TCGA novel | p.Val356SerPheSerTerUnkUnk | frameshift | - | NC_000008.11:g.117835530_117835542GCATCACAGGGAC>- | NCI-TCGA |
rs61753260 | p.Val356Ile | missense variant | - | NC_000008.11:g.117835542C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1131691337 | p.Pro357Arg | missense variant | - | NC_000008.11:g.117835538G>C | - |
RCV000494520 | p.Pro357Arg | missense variant | - | NC_000008.11:g.117835538G>C | ClinVar |
rs760043953 | p.Val358Met | missense variant | - | NC_000008.11:g.117835536C>T | ExAC,TOPMed,gnomAD |
rs760043953 | p.Val358Leu | missense variant | - | NC_000008.11:g.117835536C>G | ExAC,TOPMed,gnomAD |
rs549241569 | p.Met359Lys | missense variant | - | NC_000008.11:g.117835532A>T | 1000Genomes,ExAC,gnomAD |
COSM3896352 | p.Met359Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117835531C>T | NCI-TCGA Cosmic |
rs549241569 | p.Met359Thr | missense variant | - | NC_000008.11:g.117835532A>G | 1000Genomes,ExAC,gnomAD |
rs1382345913 | p.Ser361Gly | missense variant | - | NC_000008.11:g.117835527T>C | gnomAD |
rs527518789 | p.Asn362Ser | missense variant | - | NC_000008.11:g.117835523T>C | 1000Genomes,ExAC,gnomAD |
rs763568003 | p.Gly363Arg | missense variant | - | NC_000008.11:g.117835521C>G | ExAC,gnomAD |
rs763568003 | p.Gly363Arg | missense variant | - | NC_000008.11:g.117835521C>T | ExAC,gnomAD |
rs1554580035 | p.Trp364Ter | stop gained | - | NC_000008.11:g.117835516C>T | - |
RCV000579192 | p.Trp364Ter | nonsense | - | NC_000008.11:g.117835516C>T | ClinVar |
rs1028715003 | p.Glu365Lys | missense variant | - | NC_000008.11:g.117835515C>T | TOPMed |
rs1371506021 | p.Pro367Thr | missense variant | - | NC_000008.11:g.117835509G>T | gnomAD |
rs1248648070 | p.Val371Met | missense variant | - | NC_000008.11:g.117835497C>T | gnomAD |
rs142122090 | p.Asn373Asp | missense variant | - | NC_000008.11:g.117835491T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1463673192 | p.Asn375Asp | missense variant | - | NC_000008.11:g.117835485T>C | gnomAD |
rs746080792 | p.Ala377Val | missense variant | - | NC_000008.11:g.117835478G>A | ExAC,gnomAD |
rs371233961 | p.Val379Ile | missense variant | - | NC_000008.11:g.117835473C>T | ESP,ExAC,TOPMed,gnomAD |
rs371233961 | p.Val379Phe | missense variant | - | NC_000008.11:g.117835473C>A | ESP,ExAC,TOPMed,gnomAD |
RCV000120872 | p.Val379Ile | missense variant | - | NC_000008.11:g.117835473C>T | ClinVar |
rs747020325 | p.Ile380Val | missense variant | - | NC_000008.11:g.117835470T>C | ExAC,TOPMed,gnomAD |
rs747020325 | p.Ile380Leu | missense variant | - | NC_000008.11:g.117835470T>G | ExAC,TOPMed,gnomAD |
rs747020325 | p.Ile380Leu | missense variant | - | NC_000008.11:g.117835470T>A | ExAC,TOPMed,gnomAD |
RCV000176987 | p.Ile380Leu | missense variant | - | NC_000008.11:g.117835470T>A | ClinVar |
rs146983754 | p.Asp382Asn | missense variant | - | NC_000008.11:g.117835464C>T | ESP,gnomAD |
rs1057520535 | p.Glu383Ter | stop gained | - | NC_000008.11:g.117835461C>A | - |
RCV000441764 | p.Glu383Ter | nonsense | - | NC_000008.11:g.117835461C>A | ClinVar |
NCI-TCGA novel | p.Glu383Asp | missense variant | - | NC_000008.11:g.117835459C>A | NCI-TCGA |
rs752721885 | p.Arg384Lys | missense variant | - | NC_000008.11:g.117835457C>T | ExAC,TOPMed,gnomAD |
rs374821962 | p.Thr392Ile | missense variant | - | NC_000008.11:g.117830339G>A | ESP,ExAC,TOPMed,gnomAD |
rs374821962 | p.Thr392Lys | missense variant | - | NC_000008.11:g.117830339G>T | ESP,ExAC,TOPMed,gnomAD |
rs748083628 | p.Ile393Val | missense variant | - | NC_000008.11:g.117830337T>C | ExAC,gnomAD |
rs1014256212 | p.Arg394Gly | missense variant | - | NC_000008.11:g.117830334T>C | TOPMed |
rs1441820398 | p.Ser395Cys | missense variant | - | NC_000008.11:g.117830330G>C | TOPMed |
rs749048200 | p.Ile396Phe | missense variant | - | NC_000008.11:g.117830328T>A | ExAC,gnomAD |
rs749048200 | p.Ile396Val | missense variant | - | NC_000008.11:g.117830328T>C | ExAC,gnomAD |
rs1222448496 | p.His397Arg | missense variant | - | NC_000008.11:g.117830324T>C | gnomAD |
rs561006425 | p.Gln398Lys | missense variant | - | NC_000008.11:g.117830322G>T | 1000Genomes,ExAC,gnomAD |
rs1275929525 | p.Asp399Val | missense variant | - | NC_000008.11:g.117830318T>A | TOPMed,gnomAD |
rs1436463800 | p.Lys400Glu | missense variant | - | NC_000008.11:g.117830316T>C | gnomAD |
rs1368862860 | p.Ile401Thr | missense variant | - | NC_000008.11:g.117830312A>G | gnomAD |
NCI-TCGA novel | p.Leu404Pro | missense variant | - | NC_000008.11:g.117830303A>G | NCI-TCGA |
COSM3929351 | p.Gln406Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117830297T>C | NCI-TCGA Cosmic |
rs755694640 | p.Gln409Lys | missense variant | - | NC_000008.11:g.117830289G>T | ExAC,gnomAD |
NCI-TCGA novel | p.Phe410Leu | missense variant | - | NC_000008.11:g.117830284G>T | NCI-TCGA |
RCV000760420 | p.Trp412Ter | nonsense | - | NC_000008.11:g.117830279C>T | ClinVar |
RCV000270757 | p.Glu413Asp | missense variant | Hereditary Multiple Osteochondromatosis | NC_000008.11:g.117830275C>A | ClinVar |
rs756701753 | p.Glu413Asp | missense variant | - | NC_000008.11:g.117830275C>A | ExAC,TOPMed,gnomAD |
rs1350355119 | p.Ala414Val | missense variant | - | NC_000008.11:g.117830273G>A | TOPMed |
COSM453909 | p.Tyr415Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000008.11:g.117830269A>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Glu420Asp | missense variant | - | NC_000008.11:g.117830254C>A | NCI-TCGA |
rs147847222 | p.Glu420Gly | missense variant | - | NC_000008.11:g.117830255T>C | ESP,ExAC,TOPMed,gnomAD |
COSM1095376 | p.Lys421Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117830251C>A | NCI-TCGA Cosmic |
rs1427060439 | p.Ile422Thr | missense variant | - | NC_000008.11:g.117830249A>G | TOPMed,gnomAD |
rs1251797288 | p.Val423Ile | missense variant | - | NC_000008.11:g.117830247C>T | TOPMed |
rs1183473800 | p.Thr425Ala | missense variant | - | NC_000008.11:g.117830241T>C | TOPMed |
rs773539946 | p.Leu427Val | missense variant | - | NC_000008.11:g.117830235G>C | ExAC,gnomAD |
RCV000432157 | p.Leu427Val | missense variant | - | NC_000008.11:g.117830235G>C | ClinVar |
rs772435035 | p.Glu428Gln | missense variant | - | NC_000008.11:g.117830232C>G | ExAC,gnomAD |
rs748311058 | p.Asp432Glu | missense variant | - | NC_000008.11:g.117822586G>C | gnomAD |
rs942079736 | p.Ile434Met | missense variant | - | NC_000008.11:g.117822580T>C | TOPMed,gnomAD |
COSM3896350 | p.Ile434Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117822582T>G | NCI-TCGA Cosmic |
rs183760697 | p.Phe435Leu | missense variant | - | NC_000008.11:g.117822577G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1277354611 | p.His437Asp | missense variant | - | NC_000008.11:g.117822573G>C | gnomAD |
rs1228119516 | p.Ile438Thr | missense variant | - | NC_000008.11:g.117822569A>G | TOPMed |
rs768927725 | p.Ile438Met | missense variant | - | NC_000008.11:g.117822568T>C | ExAC,gnomAD |
rs774546763 | p.Ile438Val | missense variant | - | NC_000008.11:g.117822570T>C | ExAC,TOPMed,gnomAD |
RCV000688370 | p.Ser439Ter | nonsense | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117822566G>C | ClinVar |
rs144550328 | p.Arg440His | missense variant | - | NC_000008.11:g.117822563C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs762790189 | p.Arg440Cys | missense variant | - | NC_000008.11:g.117822564G>A | ExAC,TOPMed,gnomAD |
RCV000630804 | p.Arg440His | missense variant | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117822563C>T | ClinVar |
rs1313210405 | p.Ser442Gly | missense variant | - | NC_000008.11:g.117822558T>C | TOPMed,gnomAD |
rs531329914 | p.Ile444Met | missense variant | - | NC_000008.11:g.117822550T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
RCV000521590 | p.Trp445Arg | missense variant | - | NC_000008.11:g.117822549A>G | ClinVar |
rs1554579012 | p.Trp445Arg | missense variant | - | NC_000008.11:g.117822549A>G | - |
rs745637397 | p.Asn446Lys | missense variant | - | NC_000008.11:g.117822544G>T | ExAC,TOPMed,gnomAD |
RCV000781341 | p.Lys447HisValThrValTer | nonsense | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117822546_117822568dup | ClinVar |
rs1484937234 | p.Pro449Leu | missense variant | - | NC_000008.11:g.117822536G>A | gnomAD |
NCI-TCGA novel | p.Pro449Ser | missense variant | - | NC_000008.11:g.117822537G>A | NCI-TCGA |
rs1430395411 | p.Gly451Val | missense variant | - | NC_000008.11:g.117822530C>A | gnomAD |
COSM3896349 | p.Leu452Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117822528A>C | NCI-TCGA Cosmic |
rs770549520 | p.Leu452Phe | missense variant | - | NC_000008.11:g.117822526C>A | ExAC,gnomAD |
rs201504622 | p.Val454Leu | missense variant | - | NC_000008.11:g.117822522C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs201504622 | p.Val454Ile | missense variant | - | NC_000008.11:g.117822522C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
RCV000315374 | p.Val454Ile | missense variant | Hereditary Multiple Osteochondromatosis | NC_000008.11:g.117822522C>T | ClinVar |
RCV000395683 | p.Val454Ile | missense variant | Langer-Giedion syndrome (TRPS2) | NC_000008.11:g.117822522C>T | ClinVar |
rs756607210 | p.Gln457Pro | missense variant | - | NC_000008.11:g.117822512T>G | ExAC,gnomAD |
COSM1095375 | p.Gln457His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117822511C>A | NCI-TCGA Cosmic |
rs756607210 | p.Gln457Arg | missense variant | - | NC_000008.11:g.117822512T>C | ExAC,gnomAD |
COSM1095374 | p.Ser459Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000008.11:g.117822506G>T | NCI-TCGA Cosmic |
rs1427260383 | p.Leu462Pro | missense variant | - | NC_000008.11:g.117822497A>G | TOPMed |
rs1314115386 | p.Gly463Val | missense variant | - | NC_000008.11:g.117822494C>A | TOPMed |
COSM3896348 | p.Asp464Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117822491T>A | NCI-TCGA Cosmic |
rs1375505148 | p.Tyr468Cys | missense variant | - | NC_000008.11:g.117822479T>C | TOPMed |
RCV000539518 | p.Tyr468Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117822481del | ClinVar |
rs750748090 | p.Tyr469Cys | missense variant | - | NC_000008.11:g.117822476T>C | ExAC,TOPMed,gnomAD |
rs750748090 | p.Tyr469Phe | missense variant | - | NC_000008.11:g.117822476T>A | ExAC,TOPMed,gnomAD |
rs746738537 | p.Ala470Thr | missense variant | - | NC_000008.11:g.117822474C>T | gnomAD |
rs768039171 | p.Ala470Val | missense variant | - | NC_000008.11:g.117822473G>A | ExAC,gnomAD |
rs376449014 | p.Leu472Phe | missense variant | - | NC_000008.11:g.117822466T>A | ESP,ExAC,gnomAD |
rs1473758294 | p.Gly473Asp | missense variant | - | NC_000008.11:g.117819794C>T | TOPMed |
rs1231742212 | p.Gly473Ser | missense variant | - | NC_000008.11:g.117822465C>T | gnomAD |
rs1182351764 | p.Leu474Val | missense variant | - | NC_000008.11:g.117819792A>C | TOPMed |
rs1442814688 | p.Lys475Asn | missense variant | - | NC_000008.11:g.117819787C>A | TOPMed |
rs751005275 | p.Pro476Thr | missense variant | - | NC_000008.11:g.117819786G>T | ExAC,gnomAD |
RCV000120874 | p.Pro477Arg | missense variant | - | NC_000008.11:g.117819782G>C | ClinVar |
rs145720047 | p.Pro477Arg | missense variant | - | NC_000008.11:g.117819782G>C | ESP,ExAC,TOPMed,gnomAD |
rs1391879741 | p.Ser478Phe | missense variant | - | NC_000008.11:g.117819779G>A | gnomAD |
RCV000554263 | p.Ser478Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117819786dup | ClinVar |
RCV000627404 | p.Ser478Ter | frameshift | - | NC_000008.11:g.117819786dup | ClinVar |
rs751981937 | p.Lys479Glu | missense variant | - | NC_000008.11:g.117819777T>C | ExAC,gnomAD |
rs192596226 | p.Lys479Arg | missense variant | - | NC_000008.11:g.117819776T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1327351154 | p.Val483Leu | missense variant | - | NC_000008.11:g.117819765C>G | TOPMed |
rs763107867 | p.Ile484Phe | missense variant | - | NC_000008.11:g.117819762T>A | ExAC,gnomAD |
rs1159467409 | p.His485Arg | missense variant | - | NC_000008.11:g.117819758T>C | gnomAD |
rs188859975 | p.Ala486Val | missense variant | - | NC_000008.11:g.117819755G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
RCV000120875 | p.Ala486Val | missense variant | - | NC_000008.11:g.117819755G>A | ClinVar |
rs759514310 | p.Thr488Asn | missense variant | - | NC_000008.11:g.117819749G>T | ExAC,TOPMed,gnomAD |
rs759514310 | p.Thr488Ser | missense variant | - | NC_000008.11:g.117819749G>C | ExAC,TOPMed,gnomAD |
rs201112673 | p.Pro489Thr | missense variant | - | NC_000008.11:g.117819747G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs201112673 | p.Pro489Ala | missense variant | - | NC_000008.11:g.117819747G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
RCV000697332 | p.Leu490Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117819749dup | ClinVar |
RCV000255218 | p.Leu490Ter | frameshift | - | NC_000008.11:g.117819749del | ClinVar |
NCI-TCGA novel | p.Leu490TrpPheSerTerUnk | frameshift | - | NC_000008.11:g.117819744G>- | NCI-TCGA |
RCV000255784 | p.Leu490Ter | frameshift | - | NC_000008.11:g.117819743del | ClinVar |
RCV000702125 | p.Leu490Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117819743del | ClinVar |
RCV000309326 | p.Leu490Ter | frameshift | - | NC_000008.11:g.117819749dup | ClinVar |
RCV000821985 | p.Leu490Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117819749del | ClinVar |
rs369235843 | p.Ser492Phe | missense variant | - | NC_000008.11:g.117819737G>A | ESP,TOPMed |
rs773877597 | p.Ser494Phe | missense variant | - | NC_000008.11:g.117819731G>A | ExAC,gnomAD |
rs1248917798 | p.Ser494Pro | missense variant | - | NC_000008.11:g.117819732A>G | gnomAD |
COSM3164991 | p.Gln495His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117819727C>A | NCI-TCGA Cosmic |
rs139784916 | p.Pro496Ser | missense variant | - | NC_000008.11:g.117819726G>A | ESP,ExAC,TOPMed,gnomAD |
VAR_012822 | p.Pro496Leu | Missense | Hereditary multiple exostoses 1 (EXT1) [MIM:133700] | - | UniProt |
rs781738386 | p.Lys499Arg | missense variant | - | NC_000008.11:g.117819716T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Leu501LysAsnPheTer | stop gained | - | NC_000008.11:g.117819708_117819709insTTAGAAATTCTT | NCI-TCGA |
rs778048374 | p.Val502Leu | missense variant | - | NC_000008.11:g.117819708C>G | ExAC,TOPMed,gnomAD |
rs778048374 | p.Val502Met | missense variant | - | NC_000008.11:g.117819708C>T | ExAC,TOPMed,gnomAD |
rs778048374 | p.Val502Leu | missense variant | - | NC_000008.11:g.117819708C>A | ExAC,TOPMed,gnomAD |
rs1460054632 | p.Ala503Val | missense variant | - | NC_000008.11:g.117819704G>A | TOPMed |
rs752931018 | p.Ala504Val | missense variant | - | NC_000008.11:g.117819701G>A | ExAC,gnomAD |
COSM3896347 | p.Lys506Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117819695T>A | NCI-TCGA Cosmic |
rs201675147 | p.Lys506Arg | missense variant | - | NC_000008.11:g.117819695T>C | 1000Genomes |
rs1468056863 | p.Gln508His | missense variant | - | NC_000008.11:g.117819688C>G | gnomAD |
rs915757314 | p.Gln508Arg | missense variant | - | NC_000008.11:g.117819689T>C | TOPMed |
rs1475246488 | p.Tyr509Cys | missense variant | - | NC_000008.11:g.117819686T>C | TOPMed |
rs1383256196 | p.Gln512Glu | missense variant | - | NC_000008.11:g.117819678G>C | gnomAD |
rs1188968853 | p.Ile513Val | missense variant | - | NC_000008.11:g.117818530T>C | gnomAD |
COSM1454476 | p.Ile513Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117818529A>G | NCI-TCGA Cosmic |
rs1475399570 | p.Ile514Met | missense variant | - | NC_000008.11:g.117818525T>C | gnomAD |
rs750392304 | p.Asn518Thr | missense variant | - | NC_000008.11:g.117818514T>G | ExAC,gnomAD |
rs1199361133 | p.Asn518Lys | missense variant | - | NC_000008.11:g.117818513A>T | TOPMed |
rs1554578706 | p.Cys519Ter | stop gained | - | NC_000008.11:g.117818510A>T | - |
RCV000523456 | p.Cys519Ter | nonsense | - | NC_000008.11:g.117818510A>T | ClinVar |
NCI-TCGA novel | p.Asp520Gly | missense variant | - | NC_000008.11:g.117818508T>C | NCI-TCGA |
rs1427879295 | p.Pro524Ala | missense variant | - | NC_000008.11:g.117818497G>C | TOPMed |
rs1285562876 | p.Ala525Thr | missense variant | - | NC_000008.11:g.117818494C>T | TOPMed,gnomAD |
rs901022947 | p.Lys526Arg | missense variant | - | NC_000008.11:g.117818490T>C | TOPMed,gnomAD |
RCV000686425 | p.Lys526Ter | nonsense | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117818491T>A | ClinVar |
rs751404551 | p.Arg528Leu | missense variant | - | NC_000008.11:g.117818484C>A | ExAC,TOPMed,gnomAD |
rs761451875 | p.Arg528Cys | missense variant | - | NC_000008.11:g.117818485G>A | ExAC,TOPMed,gnomAD |
COSM4804148 | p.Arg528Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117818484C>G | NCI-TCGA Cosmic |
rs751404551 | p.Arg528His | missense variant | - | NC_000008.11:g.117818484C>T | ExAC,TOPMed,gnomAD |
rs763608530 | p.Trp529Cys | missense variant | - | NC_000008.11:g.117818480C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Trp529Ter | stop gained | - | NC_000008.11:g.117818480C>T | NCI-TCGA |
NCI-TCGA novel | p.Trp529Leu | missense variant | - | NC_000008.11:g.117818481C>A | NCI-TCGA |
rs762747719 | p.Pro530Arg | missense variant | - | NC_000008.11:g.117818478G>C | ExAC,gnomAD |
rs1336890378 | p.Ala531Thr | missense variant | - | NC_000008.11:g.117818476C>T | gnomAD |
rs1328220647 | p.Ala531Asp | missense variant | - | NC_000008.11:g.117818475G>T | gnomAD |
rs775110739 | p.Ala533Thr | missense variant | - | NC_000008.11:g.117818470C>T | ExAC,gnomAD |
rs769496005 | p.Val534Leu | missense variant | - | NC_000008.11:g.117818467C>G | ExAC,gnomAD |
rs769496005 | p.Val534Met | missense variant | - | NC_000008.11:g.117818467C>T | ExAC,gnomAD |
COSM6179659 | p.Val534Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117818467C>A | NCI-TCGA Cosmic |
rs1006713733 | p.Pro535Ser | missense variant | - | NC_000008.11:g.117818464G>A | TOPMed |
rs144397063 | p.Val537Ile | missense variant | - | NC_000008.11:g.117818458C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs767492816 | p.Val538Ile | missense variant | - | NC_000008.11:g.117818455C>T | ExAC,TOPMed,gnomAD |
rs779357756 | p.Ile539Asn | missense variant | - | NC_000008.11:g.117818451A>T | ExAC,gnomAD |
rs779357756 | p.Ile539Thr | missense variant | - | NC_000008.11:g.117818451A>G | ExAC,gnomAD |
COSM117287 | p.Ile539Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117818450A>C | NCI-TCGA Cosmic |
rs1233420413 | p.Ile539Phe | missense variant | - | NC_000008.11:g.117818452T>A | gnomAD |
rs1435547768 | p.Gly541Arg | missense variant | - | NC_000008.11:g.117818446C>T | gnomAD |
rs759528254 | p.Lys544Arg | missense variant | - | NC_000008.11:g.117818436T>C | ExAC,TOPMed,gnomAD |
rs1368926188 | p.Val545Gly | missense variant | - | NC_000008.11:g.117812960A>C | TOPMed,gnomAD |
rs1322784502 | p.Met546Ile | missense variant | - | NC_000008.11:g.117812956C>T | gnomAD |
NCI-TCGA novel | p.Ser548AlaPheSerTerUnkUnk | frameshift | - | NC_000008.11:g.117812952T>- | NCI-TCGA |
rs780189656 | p.Ser548Gly | missense variant | - | NC_000008.11:g.117812952T>C | ExAC,gnomAD |
rs1317388728 | p.Arg549His | missense variant | - | NC_000008.11:g.117812948C>T | TOPMed,gnomAD |
rs1317388728 | p.Arg549Leu | missense variant | - | NC_000008.11:g.117812948C>A | TOPMed,gnomAD |
rs770038045 | p.Arg549Cys | missense variant | - | NC_000008.11:g.117812949G>A | ExAC,gnomAD |
rs745890180 | p.Leu551Gln | missense variant | - | NC_000008.11:g.117812942A>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu551Val | missense variant | - | NC_000008.11:g.117812943G>C | NCI-TCGA |
rs751582814 | p.Asp554Asn | missense variant | - | NC_000008.11:g.117812934C>T | ExAC,TOPMed,gnomAD |
rs751582814 | p.Asp554Tyr | missense variant | - | NC_000008.11:g.117812934C>A | ExAC,TOPMed,gnomAD |
rs1392782817 | p.Asn555Ile | missense variant | - | NC_000008.11:g.117812930T>A | gnomAD |
rs777698557 | p.Asn555Asp | missense variant | - | NC_000008.11:g.117812931T>C | ExAC,TOPMed,gnomAD |
COSM486002 | p.Ile556Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117812928T>A | NCI-TCGA Cosmic |
rs561994950 | p.Thr558Ala | missense variant | - | NC_000008.11:g.117812922T>C | 1000Genomes,ExAC,gnomAD |
rs752594306 | p.Asp559Glu | missense variant | - | NC_000008.11:g.117812917G>T | ExAC,TOPMed,gnomAD |
rs1486918382 | p.Ala560Val | missense variant | - | NC_000008.11:g.117812915G>A | gnomAD |
rs754680491 | p.Ala560Thr | missense variant | - | NC_000008.11:g.117812916C>T | ExAC,gnomAD |
rs1345805410 | p.Ser563Asn | missense variant | - | NC_000008.11:g.117812906C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser563Gly | missense variant | - | NC_000008.11:g.117812907T>C | NCI-TCGA |
rs1297906558 | p.Leu564Phe | missense variant | - | NC_000008.11:g.117812904G>A | gnomAD |
RCV000598655 | p.Thr568Ter | frameshift | - | NC_000008.11:g.117812894_117812910dup | ClinVar |
rs1361550108 | p.Thr568Met | missense variant | - | NC_000008.11:g.117812891G>A | gnomAD |
rs1428345482 | p.Val569Met | missense variant | - | NC_000008.11:g.117812889C>T | gnomAD |
rs1305323658 | p.Ser571Leu | missense variant | - | NC_000008.11:g.117812882G>A | TOPMed |
NCI-TCGA novel | p.Thr573Ala | missense variant | - | NC_000008.11:g.117812877T>C | NCI-TCGA |
RCV000479149 | p.Asp576Ter | frameshift | - | NC_000008.11:g.117807373_117807374insA | ClinVar |
rs775804762 | p.Ala578Thr | missense variant | - | NC_000008.11:g.117807368C>T | ExAC,gnomAD |
rs765703551 | p.Val581Ala | missense variant | - | NC_000008.11:g.117807358A>G | ExAC,gnomAD |
rs575895733 | p.Gln583His | missense variant | - | NC_000008.11:g.117807351C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1309175788 | p.Gln583Arg | missense variant | - | NC_000008.11:g.117807352T>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser584Ile | missense variant | - | NC_000008.11:g.117807349C>A | NCI-TCGA |
rs1231316310 | p.Glu587Lys | missense variant | - | NC_000008.11:g.117807341C>T | gnomAD |
rs1335741663 | p.Gly591Ala | missense variant | - | NC_000008.11:g.117807328C>G | gnomAD |
rs773446843 | p.Tyr592Cys | missense variant | - | NC_000008.11:g.117807325T>C | ExAC,gnomAD |
rs1388996809 | p.Ala594Thr | missense variant | - | NC_000008.11:g.117807320C>T | TOPMed |
rs374887549 | p.Ala594Gly | missense variant | - | NC_000008.11:g.117807319G>C | ESP,ExAC,TOPMed,gnomAD |
COSM1205857 | p.Arg595His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117807316C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Arg595GlnPheSerTerUnk | frameshift | - | NC_000008.11:g.117807315_117807316GC>- | NCI-TCGA |
rs138006768 | p.Trp599Gly | missense variant | - | NC_000008.11:g.117807305A>C | ESP,ExAC,TOPMed,gnomAD |
rs138006768 | p.Trp599Arg | missense variant | - | NC_000008.11:g.117807305A>G | ESP,ExAC,TOPMed,gnomAD |
rs372876057 | p.Asn601Asp | missense variant | - | NC_000008.11:g.117807299T>C | ESP,ExAC,TOPMed,gnomAD |
COSM3896342 | p.Ser602Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117807295G>A | NCI-TCGA Cosmic |
rs1554657437 | p.Glu604Ter | stop gained | - | NC_000008.11:g.117807290C>A | - |
RCV000691886 | p.Glu604Ter | nonsense | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117807290C>A | ClinVar |
RCV000578934 | p.Glu604Ter | nonsense | - | NC_000008.11:g.117807290C>A | ClinVar |
rs755747479 | p.Arg605Pro | missense variant | - | NC_000008.11:g.117807286C>G | ExAC,gnomAD |
rs146967463 | p.Arg605Trp | missense variant | - | NC_000008.11:g.117807287G>A | ESP,ExAC,TOPMed,gnomAD |
rs184475999 | p.Ser610Ala | missense variant | - | NC_000008.11:g.117807272A>C | 1000Genomes,ExAC,gnomAD |
rs753261171 | p.Thr613Met | missense variant | - | NC_000008.11:g.117807262G>A | ExAC,gnomAD |
rs534809501 | p.Thr613Ala | missense variant | - | NC_000008.11:g.117807263T>C | 1000Genomes,ExAC,gnomAD |
rs1252579899 | p.Asp615Asn | missense variant | - | NC_000008.11:g.117807257C>T | gnomAD |
rs761025295 | p.Val619Ala | missense variant | - | NC_000008.11:g.117807244A>G | ExAC,gnomAD |
rs766571771 | p.Val619Leu | missense variant | - | NC_000008.11:g.117807245C>A | ExAC,gnomAD |
rs766571771 | p.Val619Leu | missense variant | - | NC_000008.11:g.117807245C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Gly622Ala | missense variant | - | NC_000008.11:g.117807235C>G | NCI-TCGA |
COSM346925 | p.Ala623Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117807233C>T | NCI-TCGA Cosmic |
rs773393953 | p.Ile625Val | missense variant | - | NC_000008.11:g.117807227T>C | ExAC,TOPMed,gnomAD |
rs886039357 | p.Tyr626Ter | stop gained | - | NC_000008.11:g.117807222G>C | - |
RCV000254878 | p.Tyr626Ter | nonsense | - | NC_000008.11:g.117807222G>C | ClinVar |
rs772344042 | p.His627Gln | missense variant | - | NC_000008.11:g.117807219G>T | ExAC,TOPMed,gnomAD |
VAR_002377 | p.His627del | inframe_deletion | Hereditary multiple exostoses 1 (EXT1) [MIM:133700] | - | UniProt |
rs1251059183 | p.Lys628Arg | missense variant | - | NC_000008.11:g.117807217T>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Tyr629Phe | missense variant | - | NC_000008.11:g.117804891T>A | NCI-TCGA |
COSM3644538 | p.His631Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117804886G>A | NCI-TCGA Cosmic |
COSM3698807 | p.Tyr632Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000008.11:g.117804881G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser635Ala | missense variant | - | NC_000008.11:g.117804874A>C | NCI-TCGA |
rs760190441 | p.Tyr637Asp | missense variant | - | NC_000008.11:g.117804868A>C | TOPMed,gnomAD |
COSM1095370 | p.Ala640Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117804859C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asp647Gly | missense variant | - | NC_000008.11:g.117804837T>C | NCI-TCGA |
rs761914342 | p.Gln648His | missense variant | - | NC_000008.11:g.117804833T>G | ExAC,TOPMed,gnomAD |
rs1315338862 | p.Ala650Asp | missense variant | - | NC_000008.11:g.117804828G>T | gnomAD |
NCI-TCGA novel | p.Asn651Ile | missense variant | - | NC_000008.11:g.117804825T>A | NCI-TCGA |
rs1294490923 | p.Ile655Val | missense variant | - | NC_000008.11:g.117804814T>C | TOPMed |
rs1390390714 | p.Met657Ile | missense variant | - | NC_000008.11:g.117804806C>G | TOPMed |
rs762841739 | p.Phe659Leu | missense variant | - | NC_000008.11:g.117804800G>T | ExAC,TOPMed,gnomAD |
rs768587413 | p.Phe659Leu | missense variant | - | NC_000008.11:g.117804802A>G | ExAC,gnomAD |
rs1335974361 | p.Leu660Gln | missense variant | - | NC_000008.11:g.117804798A>T | gnomAD |
rs775353874 | p.Val661Gly | missense variant | - | NC_000008.11:g.117804795A>C | ExAC,gnomAD |
rs775353874 | p.Val661Glu | missense variant | - | NC_000008.11:g.117804795A>T | ExAC,gnomAD |
rs769638712 | p.Ser662Phe | missense variant | - | NC_000008.11:g.117804792G>A | ExAC,gnomAD |
rs769638712 | p.Ser662Cys | missense variant | - | NC_000008.11:g.117804792G>C | ExAC,gnomAD |
COSM3698684 | p.Ala663Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117804789G>A | NCI-TCGA Cosmic |
RCV000494661 | p.Leu667Ter | nonsense | - | NC_000008.11:g.117804777A>T | ClinVar |
rs1131692020 | p.Leu667Ter | stop gained | - | NC_000008.11:g.117804777A>T | - |
rs1290707883 | p.Pro668Ser | missense variant | - | NC_000008.11:g.117804775G>A | TOPMed |
COSM6179660 | p.Pro668Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117804774G>A | NCI-TCGA Cosmic |
rs961046001 | p.Pro669Leu | missense variant | - | NC_000008.11:g.117804771G>A | TOPMed |
RCV000705577 | p.Pro669Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117804773del | ClinVar |
rs868551404 | p.Pro669Ser | missense variant | - | NC_000008.11:g.117804772G>A | TOPMed |
rs1006977291 | p.Ile670Val | missense variant | - | NC_000008.11:g.117804769T>C | gnomAD |
rs1006977291 | p.Ile670Phe | missense variant | - | NC_000008.11:g.117804769T>A | gnomAD |
rs776200312 | p.Gln674Arg | missense variant | - | NC_000008.11:g.117804756T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Lys676Glu | missense variant | - | NC_000008.11:g.117804751T>C | NCI-TCGA |
COSM421757 | p.Tyr678Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117804744T>A | NCI-TCGA Cosmic |
RCV000578692 | p.Tyr678Ter | nonsense | - | NC_000008.11:g.117804743A>C | ClinVar |
rs1554657213 | p.Tyr678Ter | stop gained | - | NC_000008.11:g.117804743A>C | - |
COSM1095368 | p.Glu680Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117804738T>G | NCI-TCGA Cosmic |
rs1278931362 | p.Met682Thr | missense variant | - | NC_000008.11:g.117804732A>G | gnomAD |
rs1340913968 | p.Met683Ile | missense variant | - | NC_000008.11:g.117804728C>T | gnomAD |
rs1198261263 | p.Met683Leu | missense variant | - | NC_000008.11:g.117804730T>A | gnomAD |
RCV000630818 | p.Ser687Ter | frameshift | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117799895del | ClinVar |
rs1282927259 | p.Ser687Phe | missense variant | - | NC_000008.11:g.117799893G>A | gnomAD |
rs138855109 | p.Arg688Trp | missense variant | - | NC_000008.11:g.117799891G>A | ESP,ExAC,TOPMed,gnomAD |
rs1336352739 | p.Ala689Thr | missense variant | - | NC_000008.11:g.117799888C>T | TOPMed,gnomAD |
rs1336352739 | p.Ala689Ser | missense variant | - | NC_000008.11:g.117799888C>A | TOPMed,gnomAD |
rs746678682 | p.Arg691His | missense variant | - | NC_000008.11:g.117799881C>T | ExAC,TOPMed,gnomAD |
rs1326876362 | p.Ala693Thr | missense variant | - | NC_000008.11:g.117799876C>T | gnomAD |
rs1461749491 | p.Pro695Thr | missense variant | - | NC_000008.11:g.117799870G>T | gnomAD |
rs771535658 | p.Asp696Asn | missense variant | - | NC_000008.11:g.117799867C>T | ExAC,gnomAD |
COSM748505 | p.Phe698Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117799860A>G | NCI-TCGA Cosmic |
rs773320520 | p.Gln700Lys | missense variant | - | NC_000008.11:g.117799855G>T | gnomAD |
rs1363815113 | p.Arg701Ter | stop gained | - | NC_000008.11:g.117799852G>A | gnomAD |
RCV000630806 | p.Arg701Ter | nonsense | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117799852G>A | ClinVar |
RCV000579207 | p.Arg701Ter | nonsense | - | NC_000008.11:g.117799852G>A | ClinVar |
rs1554656266 | p.Gln702Ter | stop gained | - | NC_000008.11:g.117799849G>A | - |
RCV000630815 | p.Gln702Ter | nonsense | Multiple congenital exostosis (EXT1) | NC_000008.11:g.117799849G>A | ClinVar |
rs1287294447 | p.Met705Val | missense variant | - | NC_000008.11:g.117799840T>C | TOPMed |
rs756718693 | p.Thr707Met | missense variant | - | NC_000008.11:g.117799833G>A | ExAC |
rs905281147 | p.Ala709Ser | missense variant | - | NC_000008.11:g.117799828C>A | gnomAD |
rs1451386410 | p.Ser710Gly | missense variant | - | NC_000008.11:g.117799825T>C | gnomAD |
rs786205593 | p.Trp711Ter | stop gained | - | NC_000008.11:g.117799821C>T | - |
RCV000171418 | p.Trp711Ter | nonsense | - | NC_000008.11:g.117799821C>T | ClinVar |
rs575830428 | p.Phe712Leu | missense variant | - | NC_000008.11:g.117799819A>G | 1000Genomes,gnomAD |
rs1225915837 | p.Met715Val | missense variant | - | NC_000008.11:g.117799810T>C | TOPMed,gnomAD |
rs1225915837 | p.Met715Leu | missense variant | - | NC_000008.11:g.117799810T>G | TOPMed,gnomAD |
rs781722411 | p.Pro716Leu | missense variant | - | NC_000008.11:g.117799806G>A | ExAC,gnomAD |
COSM1454470 | p.Pro716Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117799807G>T | NCI-TCGA Cosmic |
rs751787859 | p.His719Leu | missense variant | - | NC_000008.11:g.117799797T>A | ExAC,gnomAD |
rs751787859 | p.His719Pro | missense variant | - | NC_000008.11:g.117799797T>G | ExAC,gnomAD |
rs1364578501 | p.His719Asp | missense variant | - | NC_000008.11:g.117799798G>C | gnomAD |
rs751787859 | p.His719Arg | missense variant | - | NC_000008.11:g.117799797T>C | ExAC,gnomAD |
rs1373349863 | p.Ser720Cys | missense variant | - | NC_000008.11:g.117799794G>C | gnomAD |
rs764391436 | p.Gln721Ter | stop gained | - | NC_000008.11:g.117799792G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Gln721Arg | missense variant | - | NC_000008.11:g.117799791T>C | NCI-TCGA |
rs758347621 | p.Leu724Pro | missense variant | - | NC_000008.11:g.117799782A>G | ExAC,TOPMed,gnomAD |
rs765113358 | p.Asp725Asn | missense variant | - | NC_000008.11:g.117799780C>T | ExAC,gnomAD |
rs146096724 | p.Val727Ile | missense variant | - | NC_000008.11:g.117799774C>T | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys730ThrPheSerTerUnkUnk | frameshift | - | NC_000008.11:g.117799764_117799765insG | NCI-TCGA |
COSM1095367 | p.Asp731Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000008.11:g.117799762C>A | NCI-TCGA Cosmic |
rs1188494289 | p.Gln732Arg | missense variant | - | NC_000008.11:g.117799758T>C | gnomAD |
rs200106029 | p.Ile735Val | missense variant | - | NC_000008.11:g.117799750T>C | TOPMed,gnomAD |
COSM5062850 | p.Arg741Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000008.11:g.117799732G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asp742Tyr | missense variant | - | NC_000008.11:g.117799729C>A | NCI-TCGA |
rs1477526677 | p.Ile743Val | missense variant | - | NC_000008.11:g.117799726T>C | TOPMed,gnomAD |
rs756691505 | p.Arg745Ter | stop gained | - | NC_000008.11:g.117799720G>A | TOPMed |