Tag | Content |
---|---|
Uniprot ID | Q96RY5; A8MZL1; B1AJY1; Q8NDN1; Q9P2C1; |
Entrez ID | 57585 |
Genbank protein ID | AAK61288.1; CAD38692.1; BAA92664.2; |
Genbank nucleotide ID | NM_020825.3 |
Ensembl protein ID | ENSP00000293925; ENSP00000380559; |
Ensembl nucleotide ID | ENSG00000007545 |
Gene name | Protein cramped-like |
Gene symbol | CRAMP1 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
Functional description | |
Sequence | MTVKLGDGGS GEDGLKKLGK RAADEESLEG EGAGGADAAE ESSGTKRDEK TPRAGADGPP 60 APPGAPQAPS PPQGSPQDQH HFLRSSVRPQ SKRPRKDPPS AVGSGNAGGS GPRGKGAEGG 120 GSSSGNVSGV APAAPAGGSR SSSRNLGSSG GEKEEGKKVR RQWESWSTED KNTFFEGLYE 180 HGKDFEAIQN NIALKYKKKG KPASMVKNKE QVRHFYYRTW HKITKYIDFD HVFSRGLKKS 240 SQELYGLICY GELRKKIGGC MDDKNATKLN ELIQVGATTV RYKGRNLRIK APMCRALKKL 300 CDPDGLSDEE DQKPVRLPLK VPIELQPRNN HAWARVQSLA QNPRLRMIVE LHRKVSSLIE 360 FLKQKWALHE VRVRKTLEER QLQDSCSAPM QEKVTLHLFP GENCTLTPLP GVARVVHSKA 420 FCTVHWQEGG RCKQSAKDAH VLPPAQILGI QSGQGTARGQ VKCPRSGAEG KGVGRPPPAA 480 DALQSSGESS PESAPGEGAA LSLSSPDAPD RPPPRHQDTG PCLEKTPAEG RDSPTREPGA 540 LPCACGQLPD LEDELSLLDP LPRYLKSCQD LIVPEQCRCA DTRPGSEQPP LGGAASPEVL 600 APVSKEAADL APTGPSPRPG PGLLLDVCTK DLADAPAEEL QEKGSPAGPP PSQGQPAARP 660 PKEVPASRLA QQLREEGWNL QTSESLTLAE VYLMMGKPSK LQLEYDWLGP GRQDPRPGSL 720 PTALHKQRLL SCLLKLISTE VNPKLALEAN TISTASVRPA QEEQSMTPPG KVVTVSSRSP 780 RCPRNQASLR SSKTFPPSSA PCSSGLRNPP RPLLVPGPSS TGSNDSDGGL FAVPTTLPPN 840 SRHGKLFSPS KEAELTFRQH LNSISMQSDF FLPKPRKLRN RHLRKPLVVQ RTLLPRPSEN 900 QSHNVCSFSI LSNSSVTGRG SFRPIQSSLT KAALSRPIVP KVLPPQATSH LASAIDLAAT 960 SAGILSGNPL PALDTEGLSG ISPLSSDEVT GAISGQDSTG THQDGDTLPT VGGSDPFVSI 1020 PSRPEQEPVA DSFQGSSVLS LSELPKAPLQ NGLSIPLSSS ESSSTRLSPP DVSALLDISL 1080 PGPPEDALSQ GEPATHISDS IIEIAISSGQ YGEGVPLSPA KLNGSDSSKS LPSPSSSPQP 1140 HWIASPTHDP QWYPSDSTDS SLSSLFASFI SPEKSRKMLP TPIGTNSGTS LLGPSLLDGN 1200 SRDSFVSRSL ADVAEVVDSQ LVCMMNENSI DYISRFNDLA QELSIAEPGR REALFDGGGG 1260 GPAVSDLSQ 1269 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
---|---|---|---|---|---|---|---|---|
1:1 ortholog | CRAMP1 | 520515 | E1BN92 | Bos taurus | Prediction | More>> | ||
1:1 ortholog | CRAMP1 | F1P887 | Canis lupus familiaris | Prediction | More>> | |||
1:1 ortholog | CRAMP1 | A0A452DN69 | Capra hircus | Prediction | More>> | |||
1:1 ortholog | CRAMP1 | 57585 | Q96RY5 | Homo sapiens | Prediction | More>> | ||
1:1 ortholog | Cramp1 | 57354 | Q6PG95 | CPO | Mus musculus | Publication | More>> | |
1:1 ortholog | CRAMP1 | 453823 | A0A2J8J7V5 | Pan troglodytes | Prediction | More>> | ||
1:1 ortholog | CRAMP1 | G1SMY0 | Oryctolagus cuniculus | Prediction | More>> | |||
1:1 ortholog | Cramp1 | D3ZNU3 | Rattus norvegicus | Prediction | More>> |
ID | Variant | Type | Disease | Chromosome\Coordinate | Evidence |
---|---|---|---|---|---|
rs1219238128 | p.Gly8Cys | missense variant | - | NC_000016.10:g.1614661G>T | gnomAD |
rs971145177 | p.Glu12Lys | missense variant | - | NC_000016.10:g.1614673G>A | TOPMed,gnomAD |
rs1187084243 | p.Glu12Asp | missense variant | - | NC_000016.10:g.1614675G>T | gnomAD |
rs980268947 | p.Asp13Glu | missense variant | - | NC_000016.10:g.1614678C>G | TOPMed,gnomAD |
rs755456226 | p.Leu18Val | missense variant | - | NC_000016.10:g.1614691C>G | ExAC,TOPMed,gnomAD |
rs926923881 | p.Gly19Ala | missense variant | - | NC_000016.10:g.1614695G>C | TOPMed,gnomAD |
rs926923881 | p.Gly19Asp | missense variant | - | NC_000016.10:g.1614695G>A | TOPMed,gnomAD |
rs1470687329 | p.Arg21Gly | missense variant | - | NC_000016.10:g.1614700C>G | gnomAD |
rs1394012662 | p.Arg21Pro | missense variant | - | NC_000016.10:g.1614701G>C | TOPMed |
rs1470687329 | p.Arg21Trp | missense variant | - | NC_000016.10:g.1614700C>T | gnomAD |
rs1387828253 | p.Glu26Asp | missense variant | - | NC_000016.10:g.1614717G>C | TOPMed,gnomAD |
rs1320200243 | p.Glu29Lys | missense variant | - | NC_000016.10:g.1614724G>A | gnomAD |
rs1286586315 | p.Gly34Ser | missense variant | - | NC_000016.10:g.1614739G>A | TOPMed |
rs1343092066 | p.Gly35Ser | missense variant | - | NC_000016.10:g.1614742G>A | TOPMed,gnomAD |
rs957076005 | p.Asp37Asn | missense variant | - | NC_000016.10:g.1614748G>A | TOPMed,gnomAD |
rs957076005 | p.Asp37Tyr | missense variant | - | NC_000016.10:g.1614748G>T | TOPMed,gnomAD |
rs1281129131 | p.Ala38Val | missense variant | - | NC_000016.10:g.1614752C>T | TOPMed |
rs1234857064 | p.Ala39Gly | missense variant | - | NC_000016.10:g.1614755C>G | TOPMed |
rs1349986954 | p.Glu41Ala | missense variant | - | NC_000016.10:g.1614761A>C | TOPMed |
rs1268155436 | p.Gly44Val | missense variant | - | NC_000016.10:g.1614770G>T | TOPMed |
rs1268155436 | p.Gly44Asp | missense variant | - | NC_000016.10:g.1614770G>A | TOPMed |
rs1326855765 | p.Lys46Thr | missense variant | - | NC_000016.10:g.1614776A>C | TOPMed |
rs758590705 | p.Arg47Ser | missense variant | - | NC_000016.10:g.1614780G>T | ExAC,gnomAD |
rs1412544135 | p.Asp48Asn | missense variant | - | NC_000016.10:g.1614781G>A | TOPMed |
rs1374263754 | p.Glu49Gly | missense variant | - | NC_000016.10:g.1614785A>G | TOPMed |
rs1193029475 | p.Glu49Ter | stop gained | - | NC_000016.10:g.1614784G>T | gnomAD |
rs778126645 | p.Thr51Asn | missense variant | - | NC_000016.10:g.1614791C>A | ExAC,gnomAD |
rs1199511068 | p.Pro52Leu | missense variant | - | NC_000016.10:g.1614794C>T | gnomAD |
rs1481180447 | p.Pro52Ala | missense variant | - | NC_000016.10:g.1614793C>G | TOPMed,gnomAD |
rs1244264287 | p.Ala54Thr | missense variant | - | NC_000016.10:g.1614799G>A | TOPMed |
rs1455173074 | p.Gly55Ser | missense variant | - | NC_000016.10:g.1614802G>A | TOPMed,gnomAD |
rs770853672 | p.Ala56Val | missense variant | - | NC_000016.10:g.1614806C>T | ExAC,gnomAD |
rs1404587625 | p.Asp57Asn | missense variant | - | NC_000016.10:g.1614808G>A | TOPMed,gnomAD |
rs1258251649 | p.Gly58Cys | missense variant | - | NC_000016.10:g.1614811G>T | TOPMed |
rs1343888012 | p.Pro59Ser | missense variant | - | NC_000016.10:g.1614814C>T | TOPMed,gnomAD |
rs776510604 | p.Pro60Ser | missense variant | - | NC_000016.10:g.1614817C>T | ExAC,TOPMed,gnomAD |
rs776510604 | p.Pro60Ala | missense variant | - | NC_000016.10:g.1614817C>G | ExAC,TOPMed,gnomAD |
rs1049843132 | p.Ala61Thr | missense variant | - | NC_000016.10:g.1614820G>A | TOPMed |
rs1350015646 | p.Pro62Thr | missense variant | - | NC_000016.10:g.1614823C>A | TOPMed,gnomAD |
rs1007968040 | p.Pro62Leu | missense variant | - | NC_000016.10:g.1614824C>T | TOPMed,gnomAD |
rs1007968040 | p.Pro62His | missense variant | - | NC_000016.10:g.1614824C>A | TOPMed,gnomAD |
rs1350015646 | p.Pro62Ser | missense variant | - | NC_000016.10:g.1614823C>T | TOPMed,gnomAD |
rs1281811404 | p.Gly64Ser | missense variant | - | NC_000016.10:g.1614829G>A | gnomAD |
rs189020189 | p.Ala68Val | missense variant | - | NC_000016.10:g.1614842C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs971976818 | p.Ser70Phe | missense variant | - | NC_000016.10:g.1614848C>T | TOPMed |
rs1232439679 | p.Pro72Leu | missense variant | - | NC_000016.10:g.1614854C>T | TOPMed |
rs1203663202 | p.Ser75Asn | missense variant | - | NC_000016.10:g.1614863G>A | TOPMed |
rs1001291682 | p.Pro76Ser | missense variant | - | NC_000016.10:g.1614865C>T | TOPMed,gnomAD |
rs1259707658 | p.Gln77Arg | missense variant | - | NC_000016.10:g.1614869A>G | TOPMed |
rs1211558311 | p.His81Arg | missense variant | - | NC_000016.10:g.1614881A>G | TOPMed |
rs1250582415 | p.Arg84Leu | missense variant | - | NC_000016.10:g.1614890G>T | gnomAD |
rs1364337672 | p.Ser86Asn | missense variant | - | NC_000016.10:g.1614896G>A | gnomAD |
rs1034098447 | p.Ser86Arg | missense variant | - | NC_000016.10:g.1614895A>C | TOPMed |
rs1472395272 | p.Val87Ala | missense variant | - | NC_000016.10:g.1614899T>C | gnomAD |
rs1161248304 | p.Arg88Trp | missense variant | - | NC_000016.10:g.1614901C>T | gnomAD |
rs1304036157 | p.Gln90His | missense variant | - | NC_000016.10:g.1614909G>T | gnomAD |
rs774899859 | p.Ser91Gly | missense variant | - | NC_000016.10:g.1614910A>G | ExAC,gnomAD |
rs957023853 | p.Pro94Leu | missense variant | - | NC_000016.10:g.1614920C>T | TOPMed,gnomAD |
rs957023853 | p.Pro94His | missense variant | - | NC_000016.10:g.1614920C>A | TOPMed,gnomAD |
rs1336875615 | p.Arg95Gly | missense variant | - | NC_000016.10:g.1614922A>G | gnomAD |
rs762499648 | p.Arg95Lys | missense variant | - | NC_000016.10:g.1614923G>A | ExAC,gnomAD |
rs1362097385 | p.Lys96Arg | missense variant | - | NC_000016.10:g.1614926A>G | gnomAD |
rs1313536828 | p.Lys96Glu | missense variant | - | NC_000016.10:g.1614925A>G | gnomAD |
rs1273510180 | p.Pro98Ser | missense variant | - | NC_000016.10:g.1614931C>T | TOPMed,gnomAD |
rs1481843454 | p.Pro98His | missense variant | - | NC_000016.10:g.1614932C>A | gnomAD |
rs1441332624 | p.Pro99Arg | missense variant | - | NC_000016.10:g.1614935C>G | TOPMed,gnomAD |
rs1441332624 | p.Pro99Gln | missense variant | - | NC_000016.10:g.1614935C>A | TOPMed,gnomAD |
rs1250533440 | p.Pro99Thr | missense variant | - | NC_000016.10:g.1614934C>A | gnomAD |
rs1441332624 | p.Pro99Leu | missense variant | - | NC_000016.10:g.1614935C>T | TOPMed,gnomAD |
rs761391734 | p.Ser100Asn | missense variant | - | NC_000016.10:g.1614938G>A | ExAC,gnomAD |
rs761391734 | p.Ser100Ile | missense variant | - | NC_000016.10:g.1614938G>T | ExAC,gnomAD |
rs766748223 | p.Ala101Val | missense variant | - | NC_000016.10:g.1614941C>T | ExAC,TOPMed,gnomAD |
rs1386992172 | p.Ala101Thr | missense variant | - | NC_000016.10:g.1614940G>A | gnomAD |
rs959779059 | p.Val102Ala | missense variant | - | NC_000016.10:g.1614944T>C | TOPMed,gnomAD |
rs1466295769 | p.Gly103Val | missense variant | - | NC_000016.10:g.1614947G>T | gnomAD |
rs867649752 | p.Ala107Asp | missense variant | - | NC_000016.10:g.1614959C>A | TOPMed |
rs867649752 | p.Ala107Gly | missense variant | - | NC_000016.10:g.1614959C>G | TOPMed |
rs1189367719 | p.Ser110Leu | missense variant | - | NC_000016.10:g.1614968C>T | gnomAD |
rs1241675039 | p.Gly111Ala | missense variant | - | NC_000016.10:g.1614971G>C | gnomAD |
rs1273580901 | p.Gly114Val | missense variant | - | NC_000016.10:g.1614980G>T | TOPMed |
rs573480682 | p.Gly119Asp | missense variant | - | NC_000016.10:g.1625982G>A | 1000Genomes |
NCI-TCGA novel | p.Gly119Ser | missense variant | - | NC_000016.10:g.1625981G>A | NCI-TCGA |
rs150953427 | p.Gly120Val | missense variant | - | NC_000016.10:g.1625985G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs773796360 | p.Ser123Trp | missense variant | - | NC_000016.10:g.1625994C>G | ExAC,TOPMed,gnomAD |
rs773796360 | p.Ser123Leu | missense variant | - | NC_000016.10:g.1625994C>T | ExAC,TOPMed,gnomAD |
rs1348614428 | p.Asn126Tyr | missense variant | - | NC_000016.10:g.1626002A>T | TOPMed,gnomAD |
rs1208975775 | p.Asn126Ile | missense variant | - | NC_000016.10:g.1626003A>T | TOPMed |
rs1221081961 | p.Ser128Pro | missense variant | - | NC_000016.10:g.1626008T>C | TOPMed,gnomAD |
rs1247864332 | p.Ser128Phe | missense variant | - | NC_000016.10:g.1626009C>T | gnomAD |
rs761476573 | p.Ala131Val | missense variant | - | NC_000016.10:g.1626018C>T | ExAC,gnomAD |
rs1203917411 | p.Ala134Val | missense variant | - | NC_000016.10:g.1626027C>T | gnomAD |
rs922040781 | p.Ser139Leu | missense variant | - | NC_000016.10:g.1626042C>T | TOPMed,gnomAD |
rs1178329467 | p.Arg140Cys | missense variant | - | NC_000016.10:g.1626044C>T | TOPMed,gnomAD |
rs189953736 | p.Arg140His | missense variant | - | NC_000016.10:g.1626045G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs904231704 | p.Ser141Phe | missense variant | - | NC_000016.10:g.1626048C>T | TOPMed,gnomAD |
rs932054082 | p.Ser141Thr | missense variant | - | NC_000016.10:g.1626047T>A | TOPMed,gnomAD |
rs1357472024 | p.Ser143Pro | missense variant | - | NC_000016.10:g.1626053T>C | TOPMed |
rs1385486571 | p.Arg144Trp | missense variant | - | NC_000016.10:g.1626056C>T | TOPMed,gnomAD |
rs1043739025 | p.Arg144Gln | missense variant | - | NC_000016.10:g.1626057G>A | TOPMed,gnomAD |
rs1408941516 | p.Leu146Ile | missense variant | - | NC_000016.10:g.1626062T>A | gnomAD |
rs1195429403 | p.Gly147Arg | missense variant | - | NC_000016.10:g.1626065G>A | TOPMed |
rs776901191 | p.Ser148Phe | missense variant | - | NC_000016.10:g.1626069C>T | ExAC,gnomAD |
rs759924595 | p.Gly150Ser | missense variant | - | NC_000016.10:g.1626074G>A | ExAC,TOPMed,gnomAD |
rs1302237508 | p.Glu152Asp | missense variant | - | NC_000016.10:g.1626082G>C | gnomAD |
rs954424216 | p.Lys157Arg | missense variant | - | NC_000016.10:g.1626096A>G | TOPMed,gnomAD |
rs1008535036 | p.Arg160Trp | missense variant | - | NC_000016.10:g.1626104C>T | TOPMed,gnomAD |
rs1214261343 | p.Thr168Ala | missense variant | - | NC_000016.10:g.1626128A>G | TOPMed,gnomAD |
COSM4930582 | p.Thr168Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1626128A>T | NCI-TCGA Cosmic |
rs1205257628 | p.Lys171Glu | missense variant | - | NC_000016.10:g.1626137A>G | gnomAD |
NCI-TCGA novel | p.Lys171Asn | missense variant | - | NC_000016.10:g.1626139G>T | NCI-TCGA |
NCI-TCGA novel | p.Glu180Gln | missense variant | - | NC_000016.10:g.1626164G>C | NCI-TCGA |
rs1481117171 | p.Gly182Arg | missense variant | - | NC_000016.10:g.1632215G>A | gnomAD |
rs768535917 | p.Lys183Gln | missense variant | - | NC_000016.10:g.1632218A>C | ExAC,gnomAD |
rs778425846 | p.Ala187Val | missense variant | - | NC_000016.10:g.1632231C>T | ExAC,gnomAD |
rs1275540838 | p.Gln189His | missense variant | - | NC_000016.10:g.1632238G>C | gnomAD |
rs771761990 | p.Asn191Thr | missense variant | - | NC_000016.10:g.1632243A>C | ExAC,gnomAD |
rs771761990 | p.Asn191Ser | missense variant | - | NC_000016.10:g.1632243A>G | ExAC,gnomAD |
rs772907182 | p.Ala193Val | missense variant | - | NC_000016.10:g.1632249C>T | ExAC,gnomAD |
COSM4398305 | p.Lys201Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1632272A>G | NCI-TCGA Cosmic |
rs1284524026 | p.Pro202Leu | missense variant | - | NC_000016.10:g.1632276C>T | gnomAD |
rs374087962 | p.Ala203Val | missense variant | - | NC_000016.10:g.1632279C>T | ESP,ExAC,TOPMed,gnomAD |
rs374087962 | p.Ala203Gly | missense variant | - | NC_000016.10:g.1632279C>G | ESP,ExAC,TOPMed,gnomAD |
COSM471376 | p.Gln211His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1632304G>C | NCI-TCGA Cosmic |
COSM218487 | p.Arg213His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1632309G>A | NCI-TCGA Cosmic |
rs1447922714 | p.Arg213Cys | missense variant | - | NC_000016.10:g.1632308C>T | gnomAD |
COSM1202238 | p.Arg218His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1632324G>A | NCI-TCGA Cosmic |
rs1266283755 | p.Arg218Cys | missense variant | - | NC_000016.10:g.1632323C>T | gnomAD |
NCI-TCGA novel | p.His221Arg | missense variant | - | NC_000016.10:g.1632333A>G | NCI-TCGA |
rs1199446334 | p.Ile227Leu | missense variant | - | NC_000016.10:g.1632350A>C | TOPMed,gnomAD |
rs1199446334 | p.Ile227Val | missense variant | - | NC_000016.10:g.1632350A>G | TOPMed,gnomAD |
rs374865451 | p.Asp228Gly | missense variant | - | NC_000016.10:g.1632354A>G | ESP,TOPMed |
rs767702181 | p.Asp228Asn | missense variant | - | NC_000016.10:g.1632353G>A | ExAC,gnomAD |
rs751986801 | p.Asp230Asn | missense variant | - | NC_000016.10:g.1632359G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asp230His | missense variant | - | NC_000016.10:g.1632359G>C | NCI-TCGA |
rs756236974 | p.His231Asn | missense variant | - | NC_000016.10:g.1632362C>A | ExAC,gnomAD |
rs754756618 | p.Phe233Leu | missense variant | - | NC_000016.10:g.1637826T>C | ExAC,gnomAD |
rs754756618 | p.Phe233Val | missense variant | - | NC_000016.10:g.1637826T>G | ExAC,gnomAD |
rs374268526 | p.Arg235Gln | missense variant | - | NC_000016.10:g.1637833G>A | ESP,ExAC,TOPMed,gnomAD |
rs765227718 | p.Arg235Gly | missense variant | - | NC_000016.10:g.1637832C>G | ExAC,TOPMed,gnomAD |
rs765227718 | p.Arg235Ter | stop gained | - | NC_000016.10:g.1637832C>T | ExAC,TOPMed,gnomAD |
COSM6041613 | p.Lys238Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1637843G>T | NCI-TCGA Cosmic |
rs945205606 | p.Ser241Phe | missense variant | - | NC_000016.10:g.1637851C>T | TOPMed |
rs777373587 | p.Gln242Arg | missense variant | - | NC_000016.10:g.1637854A>G | ExAC,gnomAD |
rs1335299316 | p.Tyr245Cys | missense variant | - | NC_000016.10:g.1637863A>G | gnomAD |
NCI-TCGA novel | p.Gly246Asp | missense variant | - | NC_000016.10:g.1637866G>A | NCI-TCGA |
rs1385499777 | p.Leu247Val | missense variant | - | NC_000016.10:g.1637868C>G | gnomAD |
rs1299312837 | p.Cys249Arg | missense variant | - | NC_000016.10:g.1637874T>C | TOPMed |
rs749735014 | p.Gly251Ser | missense variant | - | NC_000016.10:g.1637880G>A | ExAC,TOPMed,gnomAD |
rs769148788 | p.Glu252Lys | missense variant | - | NC_000016.10:g.1637883G>A | ExAC,TOPMed,gnomAD |
rs1228996874 | p.Arg254Cys | missense variant | - | NC_000016.10:g.1637889C>T | gnomAD |
rs774802113 | p.Lys255Glu | missense variant | - | NC_000016.10:g.1637892A>G | ExAC,gnomAD |
rs1201762645 | p.Ile257Thr | missense variant | - | NC_000016.10:g.1637899T>C | gnomAD |
COSM287445 | p.Cys260Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1641139G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Cys260LeuPheSerTerUnk | frameshift | - | NC_000016.10:g.1637900_1637901insG | NCI-TCGA |
NCI-TCGA novel | p.Met261Ile | missense variant | - | NC_000016.10:g.1641143G>T | NCI-TCGA |
rs1163635279 | p.Asn265Ser | missense variant | - | NC_000016.10:g.1641154A>G | TOPMed |
rs188107020 | p.Thr267Ala | missense variant | - | NC_000016.10:g.1641159A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys268Arg | missense variant | - | NC_000016.10:g.1641163A>G | NCI-TCGA |
NCI-TCGA novel | p.Leu269Pro | missense variant | - | NC_000016.10:g.1641166T>C | NCI-TCGA |
rs374271727 | p.Asn270Ser | missense variant | - | NC_000016.10:g.1641169A>G | ESP,ExAC,TOPMed,gnomAD |
rs759782717 | p.Gln274His | missense variant | - | NC_000016.10:g.1641182G>C | ExAC |
rs1304756435 | p.Gln274Ter | stop gained | - | NC_000016.10:g.1641180C>T | gnomAD |
rs765411405 | p.Val275Ile | missense variant | - | NC_000016.10:g.1641183G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Val275Ala | missense variant | - | NC_000016.10:g.1641184T>C | NCI-TCGA |
rs1266217656 | p.Ala277Val | missense variant | - | NC_000016.10:g.1652498C>T | gnomAD |
rs1199539300 | p.Arg281His | missense variant | - | NC_000016.10:g.1652510G>A | gnomAD |
rs768884081 | p.Tyr282Ter | stop gained | - | NC_000016.10:g.1652514C>A | ExAC,gnomAD |
rs1160174156 | p.Arg285Leu | missense variant | - | NC_000016.10:g.1652522G>T | gnomAD |
NCI-TCGA novel | p.Arg285Gln | missense variant | - | NC_000016.10:g.1652522G>A | NCI-TCGA |
rs1420615415 | p.Asn286Lys | missense variant | - | NC_000016.10:g.1652526C>A | gnomAD |
rs1407125732 | p.Arg288Gln | missense variant | - | NC_000016.10:g.1652531G>A | TOPMed,gnomAD |
rs761679145 | p.Ala291Val | missense variant | - | NC_000016.10:g.1652540C>T | ExAC,TOPMed,gnomAD |
rs1323932458 | p.Pro292Ser | missense variant | - | NC_000016.10:g.1652542C>T | TOPMed |
rs1382260179 | p.Met293Val | missense variant | - | NC_000016.10:g.1652545A>G | TOPMed |
rs1157490074 | p.Leu297Val | missense variant | - | NC_000016.10:g.1652557C>G | TOPMed |
COSM3817316 | p.Lys298Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1652562G>C | NCI-TCGA Cosmic |
rs772771667 | p.Cys301Trp | missense variant | - | NC_000016.10:g.1652571C>G | TOPMed,gnomAD |
rs1209863020 | p.Asp302Asn | missense variant | - | NC_000016.10:g.1652572G>A | gnomAD |
rs1272218272 | p.Pro303Ser | missense variant | - | NC_000016.10:g.1652575C>T | gnomAD |
rs1322659388 | p.Gly305Val | missense variant | - | NC_000016.10:g.1653033G>T | gnomAD |
rs536108473 | p.Glu309Asp | missense variant | - | NC_000016.10:g.1653046A>C | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Glu309Lys | missense variant | - | NC_000016.10:g.1653044G>A | NCI-TCGA |
rs1483438987 | p.Asp311Asn | missense variant | - | NC_000016.10:g.1653050G>A | gnomAD |
COSM3817318 | p.Gln312His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1653055G>C | NCI-TCGA Cosmic |
rs756656583 | p.Val315Ala | missense variant | - | NC_000016.10:g.1653063T>C | ExAC,TOPMed,gnomAD |
rs201507795 | p.Arg316Pro | missense variant | - | NC_000016.10:g.1653066G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Pro318Thr | missense variant | - | NC_000016.10:g.1653071C>A | NCI-TCGA |
COSM3506475 | p.Pro322Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1653083C>T | NCI-TCGA Cosmic |
rs1480430024 | p.Ile323Val | missense variant | - | NC_000016.10:g.1653086A>G | gnomAD |
rs1346153748 | p.Pro327Leu | missense variant | - | NC_000016.10:g.1653099C>T | gnomAD |
rs1157656622 | p.Arg328Gln | missense variant | - | NC_000016.10:g.1653102G>A | gnomAD |
rs748398208 | p.Arg328Trp | missense variant | - | NC_000016.10:g.1653101C>T | ExAC,gnomAD |
rs777747793 | p.Ala332Ser | missense variant | - | NC_000016.10:g.1653113G>T | ExAC,gnomAD |
rs1298207578 | p.Ala332Val | missense variant | - | NC_000016.10:g.1653114C>T | gnomAD |
rs777747793 | p.Ala332Thr | missense variant | - | NC_000016.10:g.1653113G>A | ExAC,gnomAD |
rs1298207578 | p.Ala332Gly | missense variant | - | NC_000016.10:g.1653114C>G | gnomAD |
rs1385052695 | p.Trp333Ter | stop gained | - | NC_000016.10:g.1653118G>A | gnomAD |
rs1312581911 | p.Arg335Cys | missense variant | - | NC_000016.10:g.1653122C>T | TOPMed,gnomAD |
rs746775641 | p.Arg335His | missense variant | - | NC_000016.10:g.1653123G>A | ExAC,gnomAD |
rs1184450872 | p.Val336Met | missense variant | - | NC_000016.10:g.1653125G>A | TOPMed |
COSM967606 | p.Gln337Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000016.10:g.1653128C>T | NCI-TCGA Cosmic |
rs576149115 | p.Ser338Thr | missense variant | - | NC_000016.10:g.1653132G>C | 1000Genomes,gnomAD |
rs545225765 | p.Leu339Val | missense variant | - | NC_000016.10:g.1653134C>G | 1000Genomes,ExAC,gnomAD |
rs776622964 | p.Gln341Leu | missense variant | - | NC_000016.10:g.1653141A>T | ExAC,gnomAD |
rs1286915552 | p.Arg344Cys | missense variant | - | NC_000016.10:g.1653149C>T | gnomAD |
rs1372513822 | p.Met347Leu | missense variant | - | NC_000016.10:g.1655220A>T | TOPMed,gnomAD |
COSM3817320 | p.Met347Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1655222G>T | NCI-TCGA Cosmic |
rs771343996 | p.Ile348Val | missense variant | - | NC_000016.10:g.1655223A>G | ExAC,gnomAD |
rs371062747 | p.Ile348Met | missense variant | - | NC_000016.10:g.1655225C>G | ESP,ExAC,TOPMed,gnomAD |
rs1310301281 | p.Val349Met | missense variant | - | NC_000016.10:g.1655226G>A | gnomAD |
rs1378628673 | p.His352Arg | missense variant | - | NC_000016.10:g.1655236A>G | gnomAD |
rs765813513 | p.Arg353Ter | stop gained | - | NC_000016.10:g.1655238C>T | ExAC,gnomAD |
rs1315005647 | p.Arg353Gln | missense variant | - | NC_000016.10:g.1655239G>A | gnomAD |
rs763115931 | p.Lys354Arg | missense variant | - | NC_000016.10:g.1655242A>G | ExAC,gnomAD |
rs764199141 | p.Lys354Asn | missense variant | - | NC_000016.10:g.1655243G>C | ExAC,TOPMed,gnomAD |
rs764199141 | p.Lys354Asn | missense variant | - | NC_000016.10:g.1655243G>T | ExAC,TOPMed,gnomAD |
rs891213533 | p.Val355Leu | missense variant | - | NC_000016.10:g.1655244G>C | TOPMed |
rs1459397436 | p.Ser357Gly | missense variant | - | NC_000016.10:g.1655250A>G | gnomAD |
rs757372138 | p.Leu358Val | missense variant | - | NC_000016.10:g.1655253C>G | ExAC,TOPMed,gnomAD |
rs371683187 | p.Ile359Met | missense variant | - | NC_000016.10:g.1655258C>G | ExAC,TOPMed,gnomAD |
rs962654737 | p.Glu360Lys | missense variant | - | NC_000016.10:g.1655259G>A | TOPMed |
COSM967608 | p.Phe361Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1655264C>A | NCI-TCGA Cosmic |
rs1018288124 | p.Lys363Met | missense variant | - | NC_000016.10:g.1655269A>T | TOPMed |
COSM6143372 | p.Gln364His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1655273G>C | NCI-TCGA Cosmic |
rs1199449414 | p.Trp366Cys | missense variant | - | NC_000016.10:g.1655279G>C | TOPMed |
rs1302232880 | p.Trp366Arg | missense variant | - | NC_000016.10:g.1655277T>C | gnomAD |
rs748863527 | p.Ala367Val | missense variant | - | NC_000016.10:g.1655281C>T | ExAC,TOPMed,gnomAD |
rs779955361 | p.Ala367Thr | missense variant | - | NC_000016.10:g.1655280G>A | ExAC,TOPMed,gnomAD |
rs777096385 | p.His369Arg | missense variant | - | NC_000016.10:g.1655287A>G | ExAC,gnomAD |
NCI-TCGA novel | p.His369Leu | missense variant | - | NC_000016.10:g.1655287A>T | NCI-TCGA |
rs1357197622 | p.Val371Leu | missense variant | - | NC_000016.10:g.1655292G>C | gnomAD |
rs1446172327 | p.Arg372Gly | missense variant | - | NC_000016.10:g.1655295C>G | gnomAD |
rs376268761 | p.Arg372Gln | missense variant | - | NC_000016.10:g.1655296G>A | 1000Genomes,ESP,ExAC,gnomAD |
rs1446172327 | p.Arg372Ter | stop gained | - | NC_000016.10:g.1655295C>T | gnomAD |
rs749843552 | p.Arg374Trp | missense variant | - | NC_000016.10:g.1655877C>T | ExAC,TOPMed,gnomAD |
rs202240948 | p.Arg374Gln | missense variant | - | NC_000016.10:g.1655878G>A | ESP,ExAC,TOPMed,gnomAD |
rs774537583 | p.Thr376Ile | missense variant | - | NC_000016.10:g.1655884C>T | ExAC,gnomAD |
rs991733349 | p.Glu378Lys | missense variant | - | NC_000016.10:g.1655889G>A | TOPMed |
rs1191496741 | p.Glu379Asp | missense variant | - | NC_000016.10:g.1655894G>C | gnomAD |
rs200244880 | p.Arg380Gln | missense variant | - | NC_000016.10:g.1655896G>A | ESP,ExAC,TOPMed,gnomAD |
rs374369637 | p.Arg380Trp | missense variant | - | NC_000016.10:g.1655895C>T | ESP,ExAC,TOPMed,gnomAD |
rs766187790 | p.Leu382Arg | missense variant | - | NC_000016.10:g.1655902T>G | ExAC,gnomAD |
rs1362591651 | p.Gln383Arg | missense variant | - | NC_000016.10:g.1655905A>G | gnomAD |
rs1270457092 | p.Gln383Ter | stop gained | - | NC_000016.10:g.1655904C>T | gnomAD |
rs753595082 | p.Asp384Tyr | missense variant | - | NC_000016.10:g.1655907G>T | ExAC,gnomAD |
rs942331561 | p.Ser385Leu | missense variant | - | NC_000016.10:g.1655911C>T | TOPMed,gnomAD |
rs1439066440 | p.Cys386Arg | missense variant | - | NC_000016.10:g.1655913T>C | gnomAD |
rs1252295610 | p.Ser387Phe | missense variant | - | NC_000016.10:g.1655917C>T | TOPMed |
rs368481277 | p.Ala388Val | missense variant | - | NC_000016.10:g.1655920C>T | ESP,ExAC,TOPMed,gnomAD |
rs1013059877 | p.Ala388Thr | missense variant | - | NC_000016.10:g.1655919G>A | TOPMed,gnomAD |
rs757848793 | p.Pro389Leu | missense variant | - | NC_000016.10:g.1655923C>T | ExAC,gnomAD |
rs1213100086 | p.Met390Leu | missense variant | - | NC_000016.10:g.1655925A>C | TOPMed,gnomAD |
rs372570796 | p.Met390Ile | missense variant | - | NC_000016.10:g.1655927G>A | ESP,ExAC,TOPMed,gnomAD |
rs372570796 | p.Met390Ile | missense variant | - | NC_000016.10:g.1655927G>T | ESP,ExAC,TOPMed,gnomAD |
rs1323027784 | p.Met390Thr | missense variant | - | NC_000016.10:g.1655926T>C | TOPMed |
rs780606038 | p.Gln391Leu | missense variant | - | NC_000016.10:g.1655929A>T | ExAC,gnomAD |
rs749647085 | p.Val394Met | missense variant | - | NC_000016.10:g.1655937G>A | ExAC,gnomAD |
rs769342939 | p.Thr395Ser | missense variant | - | NC_000016.10:g.1655940A>T | ExAC,gnomAD |
rs779285294 | p.Thr395Ile | missense variant | - | NC_000016.10:g.1655941C>T | ExAC,TOPMed,gnomAD |
rs1031338762 | p.Gly401Asp | missense variant | - | NC_000016.10:g.1655959G>A | TOPMed |
rs771115810 | p.Glu402Lys | missense variant | - | NC_000016.10:g.1655961G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu402Ter | stop gained | - | NC_000016.10:g.1655961G>T | NCI-TCGA |
rs139383664 | p.Leu406Val | missense variant | - | NC_000016.10:g.1655973C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1332959238 | p.Thr407Ile | missense variant | - | NC_000016.10:g.1655977C>T | gnomAD |
rs1335926020 | p.Pro408Ser | missense variant | - | NC_000016.10:g.1655979C>T | gnomAD |
rs186357261 | p.Pro408Leu | missense variant | - | NC_000016.10:g.1655980C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1233878814 | p.Pro410Leu | missense variant | - | NC_000016.10:g.1655986C>T | gnomAD |
rs1357815342 | p.Pro410Ser | missense variant | - | NC_000016.10:g.1655985C>T | gnomAD |
rs1233878814 | p.Pro410Gln | missense variant | - | NC_000016.10:g.1655986C>A | gnomAD |
rs867773792 | p.Gly411Asp | missense variant | - | NC_000016.10:g.1655989G>A | gnomAD |
rs751080703 | p.Val412Met | missense variant | - | NC_000016.10:g.1655991G>A | ExAC,TOPMed,gnomAD |
rs757019044 | p.Arg414Cys | missense variant | - | NC_000016.10:g.1655997C>T | ExAC,gnomAD |
rs1366834613 | p.Val415Met | missense variant | - | NC_000016.10:g.1656000G>A | gnomAD |
rs1473802660 | p.His417Gln | missense variant | - | NC_000016.10:g.1656008C>A | gnomAD |
rs754322290 | p.Ser418Cys | missense variant | - | NC_000016.10:g.1656010C>G | ExAC,TOPMed,gnomAD |
rs1423456402 | p.Lys419Glu | missense variant | - | NC_000016.10:g.1656012A>G | gnomAD |
rs1464407919 | p.Phe421Val | missense variant | - | NC_000016.10:g.1656018T>G | gnomAD |
rs973250261 | p.Phe421Ser | missense variant | - | NC_000016.10:g.1656019T>C | TOPMed,gnomAD |
rs779282014 | p.Thr423Arg | missense variant | - | NC_000016.10:g.1656025C>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Thr423Ala | missense variant | - | NC_000016.10:g.1656024A>G | NCI-TCGA |
rs371073011 | p.Val424Leu | missense variant | - | NC_000016.10:g.1656027G>T | ESP |
NCI-TCGA novel | p.Trp426Ter | stop gained | - | NC_000016.10:g.1656035G>A | NCI-TCGA |
rs1207627052 | p.Gln427Ter | stop gained | - | NC_000016.10:g.1656036C>T | TOPMed |
rs982865190 | p.Glu428Gly | missense variant | - | NC_000016.10:g.1656040A>G | TOPMed |
rs772594351 | p.Gly430Ser | missense variant | - | NC_000016.10:g.1656045G>A | ExAC,gnomAD |
rs747072572 | p.Arg431Trp | missense variant | - | NC_000016.10:g.1656048C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Arg431Leu | missense variant | - | NC_000016.10:g.1656049G>T | NCI-TCGA |
NCI-TCGA novel | p.Arg431ProPheSerTerUnkUnk | frameshift | - | NC_000016.10:g.1656046_1656047insC | NCI-TCGA |
rs1220374514 | p.Ser435Gly | missense variant | - | NC_000016.10:g.1656060A>G | gnomAD |
rs960159131 | p.Ala436Val | missense variant | - | NC_000016.10:g.1656064C>T | gnomAD |
rs960159131 | p.Ala436Asp | missense variant | - | NC_000016.10:g.1656064C>A | gnomAD |
NCI-TCGA novel | p.Lys437Asn | missense variant | - | NC_000016.10:g.1656068G>T | NCI-TCGA |
rs759692870 | p.Ala439Thr | missense variant | - | NC_000016.10:g.1656072G>A | ExAC,TOPMed,gnomAD |
rs759692870 | p.Ala439Ser | missense variant | - | NC_000016.10:g.1656072G>T | ExAC,TOPMed,gnomAD |
rs571857474 | p.Val441Met | missense variant | - | NC_000016.10:g.1656078G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs571857474 | p.Val441Leu | missense variant | - | NC_000016.10:g.1656078G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs534427089 | p.Pro444Ser | missense variant | - | NC_000016.10:g.1656087C>T | 1000Genomes,ExAC,gnomAD |
rs773972940 | p.Ala445Gly | missense variant | - | NC_000016.10:g.1656091C>G | TOPMed,gnomAD |
COSM6143370 | p.Ala445Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1656091C>T | NCI-TCGA Cosmic |
rs1173423082 | p.Ala445Thr | missense variant | - | NC_000016.10:g.1656090G>A | gnomAD |
rs1465814507 | p.Gln446His | missense variant | - | NC_000016.10:g.1656095G>T | gnomAD |
rs1403816425 | p.Ile447Met | missense variant | - | NC_000016.10:g.1656098C>G | gnomAD |
rs750113429 | p.Ile447Val | missense variant | - | NC_000016.10:g.1656096A>G | ExAC,gnomAD |
rs1434812798 | p.Gly449Asp | missense variant | - | NC_000016.10:g.1656103G>A | gnomAD |
rs1434812798 | p.Gly449Val | missense variant | - | NC_000016.10:g.1656103G>T | gnomAD |
rs755744988 | p.Ile450Met | missense variant | - | NC_000016.10:g.1656107C>G | ExAC,gnomAD |
rs1337766937 | p.Gln451Leu | missense variant | - | NC_000016.10:g.1656109A>T | gnomAD |
rs1337766937 | p.Gln451Arg | missense variant | - | NC_000016.10:g.1656109A>G | gnomAD |
rs1376866964 | p.Gly455Ala | missense variant | - | NC_000016.10:g.1656121G>C | TOPMed |
rs553081131 | p.Thr456Met | missense variant | - | NC_000016.10:g.1656124C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1350400126 | p.Arg458Gln | missense variant | - | NC_000016.10:g.1656130G>A | gnomAD |
rs747446342 | p.Arg458Trp | missense variant | - | NC_000016.10:g.1656129C>T | ExAC,TOPMed,gnomAD |
rs1211869672 | p.Gly459Asp | missense variant | - | NC_000016.10:g.1656133G>A | gnomAD |
rs1487337214 | p.Gln460His | missense variant | - | NC_000016.10:g.1656137G>T | gnomAD |
rs1043227466 | p.Val461Met | missense variant | - | NC_000016.10:g.1656138G>A | TOPMed,gnomAD |
rs757338395 | p.Pro464Leu | missense variant | - | NC_000016.10:g.1656148C>T | ExAC,TOPMed,gnomAD |
rs746105462 | p.Arg465Gln | missense variant | - | NC_000016.10:g.1656151G>A | ExAC,TOPMed,gnomAD |
rs767330217 | p.Arg465Trp | missense variant | - | NC_000016.10:g.1656150C>T | TOPMed,gnomAD |
rs375137924 | p.Gly467Arg | missense variant | - | NC_000016.10:g.1656156G>C | ESP,ExAC,TOPMed,gnomAD |
rs375137924 | p.Gly467Arg | missense variant | - | NC_000016.10:g.1656156G>A | ESP,ExAC,TOPMed,gnomAD |
rs749096686 | p.Ala468Gly | missense variant | - | NC_000016.10:g.1656160C>G | ExAC,TOPMed,gnomAD |
rs1420929399 | p.Ala468Thr | missense variant | - | NC_000016.10:g.1656159G>A | gnomAD |
rs1352921873 | p.Glu469Gly | missense variant | - | NC_000016.10:g.1656163A>G | gnomAD |
rs1389838559 | p.Gly470Asp | missense variant | - | NC_000016.10:g.1656166G>A | gnomAD |
rs370408080 | p.Gly472Val | missense variant | - | NC_000016.10:g.1656172G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs772810276 | p.Arg475Trp | missense variant | - | NC_000016.10:g.1656180C>T | ExAC,TOPMed,gnomAD |
rs1261839673 | p.Arg475Gln | missense variant | - | NC_000016.10:g.1656181G>A | gnomAD |
rs368960482 | p.Pro476Leu | missense variant | - | NC_000016.10:g.1656184C>T | ESP |
rs374812511 | p.Pro476Thr | missense variant | - | NC_000016.10:g.1656183C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs374812511 | p.Pro476Ser | missense variant | - | NC_000016.10:g.1656183C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1436409347 | p.Pro477Leu | missense variant | - | NC_000016.10:g.1656187C>T | TOPMed |
rs1436409347 | p.Pro477Arg | missense variant | - | NC_000016.10:g.1656187C>G | TOPMed |
rs557671601 | p.Pro477Ala | missense variant | - | NC_000016.10:g.1656186C>G | 1000Genomes |
NCI-TCGA novel | p.Pro478SerPheSerTerUnk | frameshift | - | NC_000016.10:g.1656182_1656183insC | NCI-TCGA |
rs372160619 | p.Ala479Val | missense variant | - | NC_000016.10:g.1656193C>T | ESP,ExAC,TOPMed,gnomAD |
rs1159273751 | p.Ala480Gly | missense variant | - | NC_000016.10:g.1656196C>G | gnomAD |
rs899689704 | p.Ala480Ser | missense variant | - | NC_000016.10:g.1656195G>T | gnomAD |
rs150033460 | p.Ala482Thr | missense variant | - | NC_000016.10:g.1656201G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1394971470 | p.Ala482Gly | missense variant | - | NC_000016.10:g.1656202C>G | gnomAD |
rs757719069 | p.Leu483Phe | missense variant | - | NC_000016.10:g.1656206G>C | ExAC,gnomAD |
rs781286981 | p.Gln484Pro | missense variant | - | NC_000016.10:g.1656208A>C | ExAC,TOPMed,gnomAD |
rs745937828 | p.Gln484His | missense variant | - | NC_000016.10:g.1656209G>C | ExAC,gnomAD |
rs756347466 | p.Ser486Phe | missense variant | - | NC_000016.10:g.1656214C>T | ExAC,TOPMed,gnomAD |
rs756347466 | p.Ser486Cys | missense variant | - | NC_000016.10:g.1656214C>G | ExAC,TOPMed,gnomAD |
rs1243312947 | p.Gly487Val | missense variant | - | NC_000016.10:g.1656217G>T | gnomAD |
rs1035368808 | p.Gly487Arg | missense variant | - | NC_000016.10:g.1656216G>A | TOPMed |
COSM3506477 | p.Ser490Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1656226C>T | NCI-TCGA Cosmic |
rs749402671 | p.Pro491Thr | missense variant | - | NC_000016.10:g.1656228C>A | ExAC,TOPMed,gnomAD |
rs748130394 | p.Glu492Lys | missense variant | - | NC_000016.10:g.1656231G>A | ExAC,gnomAD |
rs772650332 | p.Ala494Thr | missense variant | - | NC_000016.10:g.1656237G>A | ExAC,gnomAD |
rs373720836 | p.Pro495Leu | missense variant | - | NC_000016.10:g.1656241C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs373720836 | p.Pro495His | missense variant | - | NC_000016.10:g.1656241C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs759058105 | p.Gly496Arg | missense variant | - | NC_000016.10:g.1656243G>A | ExAC,gnomAD |
rs145412892 | p.Gly496Ala | missense variant | - | NC_000016.10:g.1656244G>C | 1000Genomes,TOPMed,gnomAD |
rs1168347935 | p.Glu497Gln | missense variant | - | NC_000016.10:g.1656246G>C | gnomAD |
rs1417521762 | p.Glu497Gly | missense variant | - | NC_000016.10:g.1656247A>G | gnomAD |
NCI-TCGA novel | p.Glu497ArgPheSerTerUnk | frameshift | - | NC_000016.10:g.1656238C>- | NCI-TCGA |
rs1430152773 | p.Gly498Val | missense variant | - | NC_000016.10:g.1656250G>T | TOPMed |
rs1402191175 | p.Gly498Arg | missense variant | - | NC_000016.10:g.1656249G>A | TOPMed,gnomAD |
rs1444685898 | p.Ala499Pro | missense variant | - | NC_000016.10:g.1656252G>C | gnomAD |
rs1298937487 | p.Ala499Val | missense variant | - | NC_000016.10:g.1656253C>T | gnomAD |
rs751887008 | p.Ala500Ser | missense variant | - | NC_000016.10:g.1656255G>T | ExAC,gnomAD |
rs751887008 | p.Ala500Thr | missense variant | - | NC_000016.10:g.1656255G>A | ExAC,gnomAD |
rs1394319006 | p.Ala500Val | missense variant | - | NC_000016.10:g.1656256C>T | gnomAD |
rs1295658944 | p.Ser502Thr | missense variant | - | NC_000016.10:g.1656262G>C | gnomAD |
COSM1646742 | p.Leu503Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1656266G>C | NCI-TCGA Cosmic |
rs372185664 | p.Ser505Gly | missense variant | - | NC_000016.10:g.1656270A>G | ESP,ExAC,gnomAD |
rs200270407 | p.Pro506Leu | missense variant | - | NC_000016.10:g.1656274C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs754112928 | p.Ala508Thr | missense variant | - | NC_000016.10:g.1656279G>A | ExAC,TOPMed,gnomAD |
rs754637328 | p.Ala508Asp | missense variant | - | NC_000016.10:g.1656280C>A | ExAC,TOPMed,gnomAD |
rs1471862230 | p.Pro509Leu | missense variant | - | NC_000016.10:g.1656283C>T | TOPMed |
rs778893305 | p.Arg511Gly | missense variant | - | NC_000016.10:g.1656288A>G | ExAC,gnomAD |
rs1257590092 | p.Arg511Ser | missense variant | - | NC_000016.10:g.1656290G>T | gnomAD |
rs903117300 | p.Pro513Leu | missense variant | - | NC_000016.10:g.1656295C>T | gnomAD |
rs562736193 | p.Pro513Ser | missense variant | - | NC_000016.10:g.1656294C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1439886053 | p.Pro514Ser | missense variant | - | NC_000016.10:g.1656297C>T | TOPMed |
rs777765671 | p.Arg515Ser | missense variant | - | NC_000016.10:g.1656302G>C | ExAC,TOPMed,gnomAD |
rs746858691 | p.His516Gln | missense variant | - | NC_000016.10:g.1656305C>G | ExAC,gnomAD |
rs770493494 | p.Gln517His | missense variant | - | NC_000016.10:g.1656308G>T | ExAC,gnomAD |
rs1358727822 | p.Gln517Arg | missense variant | - | NC_000016.10:g.1656307A>G | gnomAD |
NCI-TCGA novel | p.Asp518GluPheSerTerUnkUnk | frameshift | - | NC_000016.10:g.1656311C>- | NCI-TCGA |
rs775959380 | p.Thr519Ala | missense variant | - | NC_000016.10:g.1656312A>G | ExAC,TOPMed,gnomAD |
rs1356140035 | p.Gly520Glu | missense variant | - | NC_000016.10:g.1656316G>A | gnomAD |
rs759224794 | p.Pro521Ser | missense variant | - | NC_000016.10:g.1656318C>T | ExAC,gnomAD |
rs1364566361 | p.Thr526Ile | missense variant | - | NC_000016.10:g.1656334C>T | TOPMed,gnomAD |
rs769410929 | p.Thr526Ala | missense variant | - | NC_000016.10:g.1656333A>G | ExAC,gnomAD |
rs774753825 | p.Pro527Ser | missense variant | - | NC_000016.10:g.1656336C>T | ExAC,TOPMed,gnomAD |
rs1236741727 | p.Ala528Val | missense variant | - | NC_000016.10:g.1656340C>T | gnomAD |
COSM332672 | p.Glu529Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1656342G>A | NCI-TCGA Cosmic |
rs767706760 | p.Gly530Ser | missense variant | - | NC_000016.10:g.1656345G>A | ExAC |
rs750952543 | p.Arg531Gly | missense variant | - | NC_000016.10:g.1656348A>G | ExAC,TOPMed,gnomAD |
rs761038864 | p.Arg531Lys | missense variant | - | NC_000016.10:g.1656349G>A | ExAC,gnomAD |
rs1056706414 | p.Asp532Tyr | missense variant | - | NC_000016.10:g.1656351G>T | gnomAD |
rs1056706414 | p.Asp532His | missense variant | - | NC_000016.10:g.1656351G>C | gnomAD |
rs1214388794 | p.Asp532Gly | missense variant | - | NC_000016.10:g.1656352A>G | TOPMed,gnomAD |
rs371446549 | p.Arg536Gln | missense variant | - | NC_000016.10:g.1656364G>A | ESP,ExAC,TOPMed,gnomAD |
rs183769316 | p.Arg536Trp | missense variant | - | NC_000016.10:g.1656363C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs371446549 | p.Arg536Pro | missense variant | - | NC_000016.10:g.1656364G>C | ESP,ExAC,TOPMed,gnomAD |
rs552084892 | p.Glu537Lys | missense variant | - | NC_000016.10:g.1656366G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs374738088 | p.Pro538Leu | missense variant | - | NC_000016.10:g.1656370C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs370114636 | p.Gly539Val | missense variant | - | NC_000016.10:g.1656373G>T | 1000Genomes,ESP,ExAC,gnomAD |
rs370114636 | p.Gly539Ala | missense variant | - | NC_000016.10:g.1656373G>C | 1000Genomes,ESP,ExAC,gnomAD |
rs373328340 | p.Ala540Ser | missense variant | - | NC_000016.10:g.1656375G>T | ESP,ExAC,TOPMed,gnomAD |
rs373328340 | p.Ala540Thr | missense variant | - | NC_000016.10:g.1656375G>A | ESP,ExAC,TOPMed,gnomAD |
rs199732432 | p.Pro542Leu | missense variant | - | NC_000016.10:g.1656382C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1347404329 | p.Pro542Ala | missense variant | - | NC_000016.10:g.1656381C>G | gnomAD |
rs1365888077 | p.Cys543Ser | missense variant | - | NC_000016.10:g.1656384T>A | gnomAD |
rs995022425 | p.Ala544Val | missense variant | - | NC_000016.10:g.1656388C>T | TOPMed,gnomAD |
rs1206981167 | p.Cys545Gly | missense variant | - | NC_000016.10:g.1656390T>G | TOPMed |
rs752981865 | p.Leu548Phe | missense variant | - | NC_000016.10:g.1656399C>T | TOPMed,gnomAD |
rs752981865 | p.Leu548Val | missense variant | - | NC_000016.10:g.1656399C>G | TOPMed,gnomAD |
rs773410575 | p.Pro549Arg | missense variant | - | NC_000016.10:g.1656403C>G | ExAC,gnomAD |
rs772508584 | p.Pro549Ser | missense variant | - | NC_000016.10:g.1656402C>T | ExAC,gnomAD |
rs773410575 | p.Pro549Leu | missense variant | - | NC_000016.10:g.1656403C>T | ExAC,gnomAD |
rs377597921 | p.Asp550His | missense variant | - | NC_000016.10:g.1656405G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1469612291 | p.Asp553Gly | missense variant | - | NC_000016.10:g.1656415A>G | gnomAD |
rs1244816771 | p.Asp553Asn | missense variant | - | NC_000016.10:g.1656414G>A | gnomAD |
rs776911598 | p.Glu554Lys | missense variant | - | NC_000016.10:g.1656417G>A | ExAC,TOPMed,gnomAD |
rs950653296 | p.Leu555Phe | missense variant | - | NC_000016.10:g.1656420C>T | TOPMed,gnomAD |
rs1399209231 | p.Leu555Pro | missense variant | - | NC_000016.10:g.1656421T>C | gnomAD |
rs537483186 | p.Ser556Leu | missense variant | - | NC_000016.10:g.1656424C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs758649118 | p.Leu558Pro | missense variant | - | NC_000016.10:g.1656430T>C | ExAC,TOPMed,gnomAD |
rs374501457 | p.Pro560Ala | missense variant | - | NC_000016.10:g.1656435C>G | ESP,gnomAD |
rs374501457 | p.Pro560Ser | missense variant | - | NC_000016.10:g.1656435C>T | ESP,gnomAD |
rs751286575 | p.Leu561Phe | missense variant | - | NC_000016.10:g.1656440G>T | ExAC,gnomAD |
rs1375619428 | p.Leu561Met | missense variant | - | NC_000016.10:g.1656438T>A | gnomAD |
rs757274453 | p.Pro562Ala | missense variant | - | NC_000016.10:g.1656441C>G | ExAC,TOPMed,gnomAD |
rs757274453 | p.Pro562Ser | missense variant | - | NC_000016.10:g.1656441C>T | ExAC,TOPMed,gnomAD |
rs755634011 | p.Arg563His | missense variant | - | NC_000016.10:g.1656445G>A | ExAC,TOPMed,gnomAD |
rs577488354 | p.Arg563Cys | missense variant | - | NC_000016.10:g.1656444C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs577488354 | p.Arg563Gly | missense variant | - | NC_000016.10:g.1656444C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1336683765 | p.Tyr564Cys | missense variant | - | NC_000016.10:g.1656448A>G | TOPMed,gnomAD |
rs779490530 | p.Lys566Asn | missense variant | - | NC_000016.10:g.1656455G>C | ExAC,gnomAD |
rs1237328124 | p.Cys568Ser | missense variant | - | NC_000016.10:g.1656460G>C | gnomAD |
NCI-TCGA novel | p.Gln569Glu | missense variant | - | NC_000016.10:g.1656462C>G | NCI-TCGA |
rs1248685034 | p.Asp570Asn | missense variant | - | NC_000016.10:g.1656465G>A | TOPMed |
rs1179886531 | p.Leu571Val | missense variant | - | NC_000016.10:g.1656468C>G | gnomAD |
rs1216422800 | p.Ile572Val | missense variant | - | NC_000016.10:g.1656471A>G | TOPMed |
rs1470524868 | p.Pro574Arg | missense variant | - | NC_000016.10:g.1656478C>G | gnomAD |
rs1233227165 | p.Pro574Thr | missense variant | - | NC_000016.10:g.1656477C>A | gnomAD |
rs1416243813 | p.Glu575Lys | missense variant | - | NC_000016.10:g.1656480G>A | gnomAD |
rs1416243813 | p.Glu575Gln | missense variant | - | NC_000016.10:g.1656480G>C | gnomAD |
rs553638328 | p.Glu575Val | missense variant | - | NC_000016.10:g.1656481A>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs978777791 | p.Gln576Arg | missense variant | - | NC_000016.10:g.1656484A>G | TOPMed,gnomAD |
rs773676967 | p.Gln576His | missense variant | - | NC_000016.10:g.1656485G>C | ExAC,gnomAD |
rs1272278815 | p.Cys577Arg | missense variant | - | NC_000016.10:g.1656486T>C | gnomAD |
rs1330418090 | p.Arg578Ser | missense variant | - | NC_000016.10:g.1656489C>A | TOPMed,gnomAD |
rs747324517 | p.Arg578His | missense variant | - | NC_000016.10:g.1656490G>A | ExAC,TOPMed,gnomAD |
rs1330418090 | p.Arg578Cys | missense variant | - | NC_000016.10:g.1656489C>T | TOPMed,gnomAD |
rs1446567699 | p.Cys579Ser | missense variant | - | NC_000016.10:g.1656492T>A | gnomAD |
rs573825535 | p.Cys579Tyr | missense variant | - | NC_000016.10:g.1656493G>A | 1000Genomes,ExAC,gnomAD |
rs542745050 | p.Ala580Val | missense variant | - | NC_000016.10:g.1656496C>T | 1000Genomes,ExAC,gnomAD |
rs1257234848 | p.Asp581Asn | missense variant | - | NC_000016.10:g.1656498G>A | TOPMed,gnomAD |
rs760066089 | p.Thr582Ala | missense variant | - | NC_000016.10:g.1656501A>G | ExAC,TOPMed,gnomAD |
rs765434904 | p.Arg583Gln | missense variant | - | NC_000016.10:g.1656505G>A | ExAC,TOPMed,gnomAD |
rs1194315710 | p.Arg583Trp | missense variant | - | NC_000016.10:g.1656504C>T | gnomAD |
rs934929492 | p.Gly585Arg | missense variant | - | NC_000016.10:g.1656510G>A | TOPMed |
rs563031777 | p.Ser586Arg | missense variant | - | NC_000016.10:g.1656515C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs763282564 | p.Glu587Lys | missense variant | - | NC_000016.10:g.1656516G>A | ExAC,gnomAD |
rs948415333 | p.Gln588His | missense variant | - | NC_000016.10:g.1656521G>C | gnomAD |
COSM967610 | p.Gln588Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1656520A>G | NCI-TCGA Cosmic |
rs1189228382 | p.Pro590Ser | missense variant | - | NC_000016.10:g.1656525C>T | gnomAD |
rs751435469 | p.Pro590His | missense variant | - | NC_000016.10:g.1656526C>A | ExAC,TOPMed,gnomAD |
rs751435469 | p.Pro590Leu | missense variant | - | NC_000016.10:g.1656526C>T | ExAC,TOPMed,gnomAD |
rs767241110 | p.Leu591Val | missense variant | - | NC_000016.10:g.1656528C>G | ExAC,gnomAD |
rs1396703874 | p.Gly592Asp | missense variant | - | NC_000016.10:g.1656532G>A | gnomAD |
rs1188423406 | p.Gly592Ser | missense variant | - | NC_000016.10:g.1656531G>A | TOPMed |
rs756006420 | p.Gly593Arg | missense variant | - | NC_000016.10:g.1656534G>A | ExAC,TOPMed,gnomAD |
rs779580535 | p.Ala594Val | missense variant | - | NC_000016.10:g.1656538C>T | ExAC,TOPMed,gnomAD |
rs1356783080 | p.Ala594Pro | missense variant | - | NC_000016.10:g.1656537G>C | gnomAD |
rs1324497582 | p.Ala595Thr | missense variant | - | NC_000016.10:g.1656540G>A | gnomAD |
rs545390375 | p.Ser596Phe | missense variant | - | NC_000016.10:g.1656544C>T | 1000Genomes |
rs1341092217 | p.Pro597Ser | missense variant | - | NC_000016.10:g.1656546C>T | TOPMed |
rs1272158136 | p.Pro597Leu | missense variant | - | NC_000016.10:g.1656547C>T | gnomAD |
rs1278331183 | p.Val599Leu | missense variant | - | NC_000016.10:g.1656552G>T | gnomAD |
rs778428297 | p.Val599Ala | missense variant | - | NC_000016.10:g.1656553T>C | ExAC,gnomAD |
rs368181087 | p.Pro602Ser | missense variant | - | NC_000016.10:g.1656561C>T | ESP,ExAC,TOPMed,gnomAD |
rs777091430 | p.Val603Ile | missense variant | - | NC_000016.10:g.1656564G>A | ExAC,gnomAD |
rs777091430 | p.Val603Leu | missense variant | - | NC_000016.10:g.1656564G>C | ExAC,gnomAD |
rs1171341136 | p.Ser604Asn | missense variant | - | NC_000016.10:g.1656568G>A | gnomAD |
rs374772176 | p.Ser604Gly | missense variant | - | NC_000016.10:g.1656567A>G | ESP,TOPMed,gnomAD |
rs145013663 | p.Glu606Lys | missense variant | - | NC_000016.10:g.1656573G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs762935745 | p.Ala608Val | missense variant | - | NC_000016.10:g.1656580C>T | ExAC,gnomAD |
rs774449066 | p.Asp609His | missense variant | - | NC_000016.10:g.1656582G>C | ExAC,gnomAD |
rs965032988 | p.Leu610Phe | missense variant | - | NC_000016.10:g.1656585C>T | gnomAD |
rs762046057 | p.Ala611Val | missense variant | - | NC_000016.10:g.1656589C>T | ExAC,TOPMed,gnomAD |
rs527950415 | p.Pro612Ala | missense variant | - | NC_000016.10:g.1656591C>G | 1000Genomes,ExAC,gnomAD |
rs527950415 | p.Pro612Ser | missense variant | - | NC_000016.10:g.1656591C>T | 1000Genomes,ExAC,gnomAD |
rs371731624 | p.Thr613Ala | missense variant | - | NC_000016.10:g.1656594A>G | ESP,ExAC,TOPMed,gnomAD |
rs548075473 | p.Gly614Asp | missense variant | - | NC_000016.10:g.1656598G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs753456827 | p.Pro617Leu | missense variant | - | NC_000016.10:g.1656607C>T | ExAC,gnomAD |
rs753456827 | p.Pro617Arg | missense variant | - | NC_000016.10:g.1656607C>G | ExAC,gnomAD |
rs1012089202 | p.Pro617Ala | missense variant | - | NC_000016.10:g.1656606C>G | TOPMed,gnomAD |
rs1191391969 | p.Gly620Asp | missense variant | - | NC_000016.10:g.1656616G>A | gnomAD |
rs758033308 | p.Gly620Ser | missense variant | - | NC_000016.10:g.1656615G>A | ExAC,TOPMed,gnomAD |
rs781721413 | p.Pro621Ser | missense variant | - | NC_000016.10:g.1656618C>T | ExAC,TOPMed,gnomAD |
rs781721413 | p.Pro621Ala | missense variant | - | NC_000016.10:g.1656618C>G | ExAC,TOPMed,gnomAD |
rs1157584038 | p.Gly622Arg | missense variant | - | NC_000016.10:g.1656621G>A | TOPMed,gnomAD |
rs992663171 | p.Leu623Phe | missense variant | - | NC_000016.10:g.1656624C>T | gnomAD |
rs1289352640 | p.Leu624Met | missense variant | - | NC_000016.10:g.1656627C>A | gnomAD |
rs1447871763 | p.Cys628Phe | missense variant | - | NC_000016.10:g.1656640G>T | gnomAD |
rs1447871763 | p.Cys628Tyr | missense variant | - | NC_000016.10:g.1656640G>A | gnomAD |
rs780708550 | p.Thr629Pro | missense variant | - | NC_000016.10:g.1656642A>C | ExAC,gnomAD |
rs747147815 | p.Thr629Ser | missense variant | - | NC_000016.10:g.1656643C>G | ExAC,gnomAD |
rs1441911598 | p.Asp631Val | missense variant | - | NC_000016.10:g.1656649A>T | gnomAD |
rs1373538969 | p.Asp631His | missense variant | - | NC_000016.10:g.1656648G>C | TOPMed,gnomAD |
rs191084422 | p.Ala633Gly | missense variant | - | NC_000016.10:g.1656655C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs191084422 | p.Ala633Val | missense variant | - | NC_000016.10:g.1656655C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1261788272 | p.Asp634Asn | missense variant | - | NC_000016.10:g.1656657G>A | gnomAD |
rs1261788272 | p.Asp634His | missense variant | - | NC_000016.10:g.1656657G>C | gnomAD |
rs920280760 | p.Ala637Val | missense variant | - | NC_000016.10:g.1656667C>T | TOPMed,gnomAD |
rs920280760 | p.Ala637Glu | missense variant | - | NC_000016.10:g.1656667C>A | TOPMed,gnomAD |
rs766097615 | p.Glu638Lys | missense variant | - | NC_000016.10:g.1656669G>A | ExAC,gnomAD |
rs1420300734 | p.Gly644Arg | missense variant | - | NC_000016.10:g.1656687G>A | TOPMed,gnomAD |
rs764688261 | p.Pro646Arg | missense variant | - | NC_000016.10:g.1656694C>G | ExAC,TOPMed,gnomAD |
rs764688261 | p.Pro646His | missense variant | - | NC_000016.10:g.1656694C>A | ExAC,TOPMed,gnomAD |
rs758179352 | p.Ala647Thr | missense variant | - | NC_000016.10:g.1656696G>A | ExAC,TOPMed,gnomAD |
rs777559860 | p.Ala647Val | missense variant | - | NC_000016.10:g.1656697C>T | ExAC,TOPMed,gnomAD |
rs1297777209 | p.Gly648Arg | missense variant | - | NC_000016.10:g.1656699G>A | TOPMed,gnomAD |
rs756559071 | p.Pro649Leu | missense variant | - | NC_000016.10:g.1656703C>T | ExAC,TOPMed,gnomAD |
rs780415279 | p.Pro650Leu | missense variant | - | NC_000016.10:g.1656706C>T | ExAC,TOPMed,gnomAD |
rs1264484695 | p.Pro650Thr | missense variant | - | NC_000016.10:g.1656705C>A | TOPMed |
rs537572177 | p.Pro651Leu | missense variant | - | NC_000016.10:g.1656709C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1335880575 | p.Ser652Cys | missense variant | - | NC_000016.10:g.1656712C>G | gnomAD |
rs1335880575 | p.Ser652Phe | missense variant | - | NC_000016.10:g.1656712C>T | gnomAD |
rs1320586522 | p.Gln653His | missense variant | - | NC_000016.10:g.1656716G>C | TOPMed,gnomAD |
rs1481337275 | p.Gly654Glu | missense variant | - | NC_000016.10:g.1656718G>A | TOPMed,gnomAD |
rs1249217826 | p.Gly654Arg | missense variant | - | NC_000016.10:g.1656717G>A | gnomAD |
rs1481337275 | p.Gly654Ala | missense variant | - | NC_000016.10:g.1656718G>C | TOPMed,gnomAD |
rs1177339443 | p.Ala657Gly | missense variant | - | NC_000016.10:g.1656727C>G | TOPMed,gnomAD |
rs1177339443 | p.Ala657Val | missense variant | - | NC_000016.10:g.1656727C>T | TOPMed,gnomAD |
rs1177339443 | p.Ala657Asp | missense variant | - | NC_000016.10:g.1656727C>A | TOPMed,gnomAD |
rs570912665 | p.Ala658Thr | missense variant | - | NC_000016.10:g.1656729G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1170017010 | p.Arg659Ser | missense variant | - | NC_000016.10:g.1656734G>T | TOPMed,gnomAD |
rs1418341007 | p.Arg659Gly | missense variant | - | NC_000016.10:g.1656732A>G | gnomAD |
rs1409117106 | p.Arg659Lys | missense variant | - | NC_000016.10:g.1656733G>A | gnomAD |
rs1352918863 | p.Pro660Ala | missense variant | - | NC_000016.10:g.1656735C>G | TOPMed,gnomAD |
rs1352918863 | p.Pro660Ser | missense variant | - | NC_000016.10:g.1656735C>T | TOPMed,gnomAD |
rs1463707076 | p.Pro660Leu | missense variant | - | NC_000016.10:g.1656736C>T | TOPMed,gnomAD |
rs1463707076 | p.Pro660His | missense variant | - | NC_000016.10:g.1656736C>A | TOPMed,gnomAD |
rs533832759 | p.Pro661Leu | missense variant | - | NC_000016.10:g.1656739C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs533832759 | p.Pro661Arg | missense variant | - | NC_000016.10:g.1656739C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1193821403 | p.Glu663Gly | missense variant | - | NC_000016.10:g.1656745A>G | TOPMed |
rs1044934815 | p.Val664Ile | missense variant | - | NC_000016.10:g.1656747G>A | TOPMed |
rs368418963 | p.Pro665Ser | missense variant | - | NC_000016.10:g.1656750C>T | ExAC,TOPMed,gnomAD |
rs759207917 | p.Ala666Asp | missense variant | - | NC_000016.10:g.1656754C>A | ExAC,gnomAD |
rs776666101 | p.Ala666Thr | missense variant | - | NC_000016.10:g.1656753G>A | ExAC,TOPMed,gnomAD |
rs1262984827 | p.Ser667Gly | missense variant | - | NC_000016.10:g.1656756A>G | TOPMed |
rs1262984827 | p.Ser667Arg | missense variant | - | NC_000016.10:g.1656756A>C | TOPMed |
rs146776711 | p.Arg668Gln | missense variant | - | NC_000016.10:g.1656760G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs146776711 | p.Arg668Leu | missense variant | - | NC_000016.10:g.1656760G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs774942675 | p.Arg668Trp | missense variant | - | NC_000016.10:g.1656759C>T | ExAC,gnomAD |
rs1304457232 | p.Leu669Pro | missense variant | - | NC_000016.10:g.1656763T>C | TOPMed |
rs1484378205 | p.Leu669Met | missense variant | - | NC_000016.10:g.1656762C>A | gnomAD |
rs1212978869 | p.Ala670Gly | missense variant | - | NC_000016.10:g.1656766C>G | TOPMed,gnomAD |
rs1257519449 | p.Leu673Phe | missense variant | - | NC_000016.10:g.1656774C>T | gnomAD |
rs1363150861 | p.Leu673Pro | missense variant | - | NC_000016.10:g.1656775T>C | TOPMed |
rs757340231 | p.Arg674Leu | missense variant | - | NC_000016.10:g.1656778G>T | TOPMed,gnomAD |
rs757340231 | p.Arg674His | missense variant | - | NC_000016.10:g.1656778G>A | TOPMed,gnomAD |
rs969980024 | p.Arg674Cys | missense variant | - | NC_000016.10:g.1656777C>T | TOPMed,gnomAD |
rs1421381135 | p.Glu675Lys | missense variant | - | NC_000016.10:g.1656780G>A | gnomAD |
rs1394182390 | p.Glu676Asp | missense variant | - | NC_000016.10:g.1656785G>C | TOPMed |
rs763900352 | p.Glu676Gly | missense variant | - | NC_000016.10:g.1656784A>G | ExAC,TOPMed,gnomAD |
rs1430556494 | p.Glu676Lys | missense variant | - | NC_000016.10:g.1656783G>A | TOPMed,gnomAD |
rs1394579767 | p.Gly677Asp | missense variant | - | NC_000016.10:g.1656787G>A | gnomAD |
rs1432898476 | p.Trp678Cys | missense variant | - | NC_000016.10:g.1656791G>C | gnomAD |
rs1432898476 | p.Trp678Cys | missense variant | - | NC_000016.10:g.1656791G>T | gnomAD |
rs1019589676 | p.Leu680Val | missense variant | - | NC_000016.10:g.1656795C>G | TOPMed |
rs1376658973 | p.Glu684Lys | missense variant | - | NC_000016.10:g.1656807G>A | TOPMed,gnomAD |
rs1345130398 | p.Met694Thr | missense variant | - | NC_000016.10:g.1656838T>C | gnomAD |
rs1358375030 | p.Leu701Met | missense variant | - | NC_000016.10:g.1656858C>A | gnomAD |
rs755238832 | p.Gln702Lys | missense variant | - | NC_000016.10:g.1656861C>A | ExAC,TOPMed,gnomAD |
rs1280398652 | p.Glu704Asp | missense variant | - | NC_000016.10:g.1656869G>T | gnomAD |
rs1228325723 | p.Glu704Gln | missense variant | - | NC_000016.10:g.1656867G>C | TOPMed |
rs748577178 | p.Gly709Arg | missense variant | - | NC_000016.10:g.1656882G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Gly709Val | missense variant | - | NC_000016.10:g.1656883G>T | NCI-TCGA |
rs1243678608 | p.Pro710Ser | missense variant | - | NC_000016.10:g.1656885C>T | gnomAD |
rs545529729 | p.Gly711Ser | missense variant | - | NC_000016.10:g.1656888G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs903823727 | p.Arg712His | missense variant | - | NC_000016.10:g.1656892G>A | TOPMed,gnomAD |
rs565235725 | p.Arg712Cys | missense variant | - | NC_000016.10:g.1656891C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs903823727 | p.Arg712Leu | missense variant | - | NC_000016.10:g.1656892G>T | TOPMed,gnomAD |
rs771069939 | p.Arg716Cys | missense variant | - | NC_000016.10:g.1656903C>T | ExAC,TOPMed,gnomAD |
rs372279645 | p.Arg716Leu | missense variant | - | NC_000016.10:g.1656904G>T | gnomAD |
NCI-TCGA novel | p.Arg716His | missense variant | - | NC_000016.10:g.1656904G>A | NCI-TCGA |
rs745825658 | p.Gly718Ser | missense variant | - | NC_000016.10:g.1656909G>A | ExAC,TOPMed,gnomAD |
rs1436192641 | p.Leu720Val | missense variant | - | NC_000016.10:g.1656915C>G | gnomAD |
rs1335872676 | p.Pro721His | missense variant | - | NC_000016.10:g.1656919C>A | TOPMed,gnomAD |
rs1335872676 | p.Pro721Arg | missense variant | - | NC_000016.10:g.1656919C>G | TOPMed,gnomAD |
rs1324822848 | p.Pro721Thr | missense variant | - | NC_000016.10:g.1656918C>A | TOPMed,gnomAD |
rs1324822848 | p.Pro721Ser | missense variant | - | NC_000016.10:g.1656918C>T | TOPMed,gnomAD |
rs1368403011 | p.Thr722Ile | missense variant | - | NC_000016.10:g.1656922C>T | gnomAD |
rs775345230 | p.Ala723Thr | missense variant | - | NC_000016.10:g.1656924G>A | ExAC,TOPMed,gnomAD |
rs775345230 | p.Ala723Ser | missense variant | - | NC_000016.10:g.1656924G>T | ExAC,TOPMed,gnomAD |
rs1045299343 | p.His725Pro | missense variant | - | NC_000016.10:g.1656931A>C | TOPMed,gnomAD |
rs1272581900 | p.His725Asp | missense variant | - | NC_000016.10:g.1656930C>G | TOPMed |
rs903724382 | p.His725Gln | missense variant | - | NC_000016.10:g.1656932C>A | TOPMed,gnomAD |
rs774178478 | p.Gln727His | missense variant | - | NC_000016.10:g.1656938G>T | ExAC,TOPMed,gnomAD |
rs1250904876 | p.Arg728His | missense variant | - | NC_000016.10:g.1656940G>A | TOPMed,gnomAD |
rs541352163 | p.Leu729Arg | missense variant | - | NC_000016.10:g.1656943T>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs970311309 | p.Ser731Asn | missense variant | - | NC_000016.10:g.1656949G>A | TOPMed,gnomAD |
rs970311309 | p.Ser731Thr | missense variant | - | NC_000016.10:g.1656949G>C | TOPMed,gnomAD |
rs767068024 | p.Leu733Phe | missense variant | - | NC_000016.10:g.1656954C>T | ExAC,gnomAD |
rs920515248 | p.Thr739Ala | missense variant | - | NC_000016.10:g.1656972A>G | TOPMed |
rs755504106 | p.Glu740Lys | missense variant | - | NC_000016.10:g.1656975G>A | ExAC,gnomAD |
rs1164737281 | p.Val741Ile | missense variant | - | NC_000016.10:g.1656978G>A | gnomAD |
rs1178985337 | p.Pro743Thr | missense variant | - | NC_000016.10:g.1656984C>A | gnomAD |
rs753035998 | p.Lys744Thr | missense variant | - | NC_000016.10:g.1656988A>C | ExAC,gnomAD |
rs1431823838 | p.Ala746Asp | missense variant | - | NC_000016.10:g.1659887C>A | TOPMed |
rs780091307 | p.Ala746Thr | missense variant | - | NC_000016.10:g.1659886G>A | ExAC,TOPMed,gnomAD |
rs780091307 | p.Ala746Pro | missense variant | - | NC_000016.10:g.1659886G>C | ExAC,TOPMed,gnomAD |
rs749251381 | p.Leu747Val | missense variant | - | NC_000016.10:g.1659889C>G | ExAC,TOPMed,gnomAD |
rs1372860898 | p.Ala749Gly | missense variant | - | NC_000016.10:g.1659896C>G | gnomAD |
rs768499069 | p.Thr751Ile | missense variant | - | NC_000016.10:g.1659902C>T | ExAC,gnomAD |
rs1200595363 | p.Ser753Thr | missense variant | - | NC_000016.10:g.1659907T>A | TOPMed |
NCI-TCGA novel | p.Ser753Cys | missense variant | - | NC_000016.10:g.1659908C>G | NCI-TCGA |
rs1021525675 | p.Thr754Ile | missense variant | - | NC_000016.10:g.1659911C>T | TOPMed,gnomAD |
rs1390287107 | p.Thr754Ala | missense variant | - | NC_000016.10:g.1659910A>G | TOPMed,gnomAD |
rs772777296 | p.Arg758Ser | missense variant | - | NC_000016.10:g.1659924G>T | ExAC,gnomAD |
rs369231610 | p.Arg758Gly | missense variant | - | NC_000016.10:g.1659922A>G | ESP,ExAC,TOPMed,gnomAD |
rs1261266997 | p.Pro759Thr | missense variant | - | NC_000016.10:g.1659925C>A | TOPMed |
rs1317423233 | p.Pro759Arg | missense variant | - | NC_000016.10:g.1659926C>G | gnomAD |
COSM1376149 | p.Ala760Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1659928G>T | NCI-TCGA Cosmic |
rs770447391 | p.Ala760Thr | missense variant | - | NC_000016.10:g.1659928G>A | ExAC,TOPMed,gnomAD |
rs1300041980 | p.Gln761Lys | missense variant | - | NC_000016.10:g.1659931C>A | gnomAD |
rs200608756 | p.Glu762Lys | missense variant | - | NC_000016.10:g.1659934G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs763450496 | p.Glu763Lys | missense variant | - | NC_000016.10:g.1659937G>A | ExAC,TOPMed,gnomAD |
rs199878911 | p.Ser765Leu | missense variant | - | NC_000016.10:g.1659944C>T | 1000Genomes,ESP,TOPMed,gnomAD |
NCI-TCGA novel | p.Met766Val | missense variant | - | NC_000016.10:g.1659946A>G | NCI-TCGA |
rs764647937 | p.Thr767Ser | missense variant | - | NC_000016.10:g.1659949A>T | ExAC,gnomAD |
rs1261501449 | p.Thr767Met | missense variant | - | NC_000016.10:g.1659950C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Pro768Ser | missense variant | - | NC_000016.10:g.1659952C>T | NCI-TCGA |
rs1248201747 | p.Pro769Leu | missense variant | - | NC_000016.10:g.1659956C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Pro769GlnPheSerTerUnk | frameshift | - | NC_000016.10:g.1659952C>- | NCI-TCGA |
rs1255062349 | p.Gly770Val | missense variant | - | NC_000016.10:g.1659959G>T | gnomAD |
COSM3672168 | p.Lys771Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1659961A>G | NCI-TCGA Cosmic |
rs756161025 | p.Val773Ala | missense variant | - | NC_000016.10:g.1659968T>C | ExAC,gnomAD |
rs754951039 | p.Val775Ile | missense variant | - | NC_000016.10:g.1659973G>A | ExAC,TOPMed,gnomAD |
rs1039708181 | p.Ser776Ile | missense variant | - | NC_000016.10:g.1659977G>T | TOPMed |
rs1192679325 | p.Ser777Phe | missense variant | - | NC_000016.10:g.1659980C>T | TOPMed |
rs1322820687 | p.Arg778His | missense variant | - | NC_000016.10:g.1659983G>A | TOPMed,gnomAD |
rs1383635649 | p.Arg778Cys | missense variant | - | NC_000016.10:g.1659982C>T | TOPMed,gnomAD |
rs747941119 | p.Ser779Asn | missense variant | - | NC_000016.10:g.1659986G>A | ExAC,TOPMed,gnomAD |
rs1366268249 | p.Ser779Gly | missense variant | - | NC_000016.10:g.1659985A>G | gnomAD |
rs1262372320 | p.Pro780Ala | missense variant | - | NC_000016.10:g.1659988C>G | TOPMed |
rs746650368 | p.Arg781Cys | missense variant | - | NC_000016.10:g.1659991C>T | ExAC,gnomAD |
rs770641600 | p.Arg781His | missense variant | - | NC_000016.10:g.1659992G>A | ExAC,gnomAD |
rs1349005336 | p.Cys782Arg | missense variant | - | NC_000016.10:g.1659994T>C | TOPMed,gnomAD |
rs536165085 | p.Pro783His | missense variant | - | NC_000016.10:g.1659998C>A | 1000Genomes,ExAC,gnomAD |
rs374299928 | p.Pro783Ser | missense variant | - | NC_000016.10:g.1659997C>T | ESP,ExAC,TOPMed,gnomAD |
rs536165085 | p.Pro783Leu | missense variant | - | NC_000016.10:g.1659998C>T | 1000Genomes,ExAC,gnomAD |
rs1464600819 | p.Arg784Gln | missense variant | - | NC_000016.10:g.1660001G>A | TOPMed,gnomAD |
rs762190804 | p.Arg784Trp | missense variant | - | NC_000016.10:g.1660000C>T | ExAC,TOPMed,gnomAD |
rs370505312 | p.Gln786Arg | missense variant | - | NC_000016.10:g.1660007A>G | ESP,TOPMed |
rs1433219826 | p.Leu789Pro | missense variant | - | NC_000016.10:g.1660016T>C | TOPMed,gnomAD |
rs773417565 | p.Arg790Leu | missense variant | - | NC_000016.10:g.1660019G>T | ExAC,TOPMed,gnomAD |
rs773417565 | p.Arg790His | missense variant | - | NC_000016.10:g.1660019G>A | ExAC,TOPMed,gnomAD |
rs1393732339 | p.Arg790Cys | missense variant | - | NC_000016.10:g.1660018C>T | TOPMed |
rs1455269528 | p.Ser791Asn | missense variant | - | NC_000016.10:g.1660022G>A | gnomAD |
rs202027042 | p.Ser791Gly | missense variant | - | NC_000016.10:g.1660021A>G | 1000Genomes,ExAC,gnomAD |
rs766766057 | p.Thr794Asn | missense variant | - | NC_000016.10:g.1660031C>A | ExAC,gnomAD |
rs766766057 | p.Thr794Ile | missense variant | - | NC_000016.10:g.1660031C>T | ExAC,gnomAD |
rs915938562 | p.Pro796Leu | missense variant | - | NC_000016.10:g.1660037C>T | TOPMed,gnomAD |
rs112404892 | p.Pro796Thr | missense variant | - | NC_000016.10:g.1660036C>A | ESP,ExAC,TOPMed,gnomAD |
rs112404892 | p.Pro796Ala | missense variant | - | NC_000016.10:g.1660036C>G | ESP,ExAC,TOPMed,gnomAD |
rs1306371639 | p.Pro797Ser | missense variant | - | NC_000016.10:g.1660039C>T | gnomAD |
rs61746425 | p.Ala800Thr | missense variant | - | NC_000016.10:g.1660048G>A | gnomAD |
rs200073715 | p.Ala800Val | missense variant | - | NC_000016.10:g.1660049C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs61746425 | p.Ala800Pro | missense variant | - | NC_000016.10:g.1660048G>C | gnomAD |
rs777430946 | p.Ser803Phe | missense variant | - | NC_000016.10:g.1660058C>T | ExAC,TOPMed,gnomAD |
rs1488527648 | p.Gly805Arg | missense variant | - | NC_000016.10:g.1660063G>C | gnomAD |
rs887680348 | p.Gly805Val | missense variant | - | NC_000016.10:g.1662490G>T | TOPMed,gnomAD |
rs887680348 | p.Gly805Asp | missense variant | - | NC_000016.10:g.1662490G>A | TOPMed,gnomAD |
rs1431627538 | p.Asn808His | missense variant | - | NC_000016.10:g.1662498A>C | gnomAD |
rs757079031 | p.Pro809Arg | missense variant | - | NC_000016.10:g.1662502C>G | ExAC,gnomAD |
rs757079031 | p.Pro809Leu | missense variant | - | NC_000016.10:g.1662502C>T | ExAC,gnomAD |
rs1375430585 | p.Pro809Ser | missense variant | - | NC_000016.10:g.1662501C>T | gnomAD |
rs1462706562 | p.Pro810Ala | missense variant | - | NC_000016.10:g.1662504C>G | TOPMed |
rs1305000726 | p.Arg811Gly | missense variant | - | NC_000016.10:g.1662507A>G | gnomAD |
rs1381321484 | p.Leu814Ser | missense variant | - | NC_000016.10:g.1662517T>C | TOPMed,gnomAD |
rs1470240482 | p.Val815Ala | missense variant | - | NC_000016.10:g.1662520T>C | TOPMed |
rs1036554119 | p.Pro816Arg | missense variant | - | NC_000016.10:g.1662523C>G | TOPMed |
rs369489514 | p.Pro816Ala | missense variant | - | NC_000016.10:g.1662522C>G | ESP,ExAC,gnomAD |
rs369489514 | p.Pro816Ser | missense variant | - | NC_000016.10:g.1662522C>T | ESP,ExAC,gnomAD |
rs1197454072 | p.Gly817Val | missense variant | - | NC_000016.10:g.1662526G>T | TOPMed |
rs1343697405 | p.Ser819Pro | missense variant | - | NC_000016.10:g.1662531T>C | gnomAD |
COSM3817322 | p.Ser819Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1662532C>G | NCI-TCGA Cosmic |
rs755554549 | p.Ser819Phe | missense variant | - | NC_000016.10:g.1662532C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Thr821Lys | missense variant | - | NC_000016.10:g.1662538C>A | NCI-TCGA |
rs536734837 | p.Gly822Arg | missense variant | - | NC_000016.10:g.1662540G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1195815304 | p.Ser823Thr | missense variant | - | NC_000016.10:g.1662544G>C | TOPMed |
rs1463738022 | p.Asn824Asp | missense variant | - | NC_000016.10:g.1662546A>G | TOPMed |
rs772436155 | p.Asn824Ser | missense variant | - | NC_000016.10:g.1662547A>G | ExAC,TOPMed,gnomAD |
rs1485396628 | p.Asp825Gly | missense variant | - | NC_000016.10:g.1662550A>G | gnomAD |
rs778381966 | p.Gly828Arg | missense variant | - | NC_000016.10:g.1662558G>C | ExAC,gnomAD |
rs747335674 | p.Gly828Val | missense variant | - | NC_000016.10:g.1662559G>T | ExAC,TOPMed,gnomAD |
rs1352985988 | p.Leu830Phe | missense variant | - | NC_000016.10:g.1662564C>T | TOPMed |
rs1352985988 | p.Leu830Val | missense variant | - | NC_000016.10:g.1662564C>G | TOPMed |
rs759838917 | p.Pro834Leu | missense variant | - | NC_000016.10:g.1662577C>T | ExAC,gnomAD |
rs770117368 | p.Thr836Ala | missense variant | - | NC_000016.10:g.1662582A>G | ExAC,gnomAD |
rs1046185385 | p.Pro839Leu | missense variant | - | NC_000016.10:g.1662592C>T | TOPMed |
rs1430384197 | p.Asn840Ser | missense variant | - | NC_000016.10:g.1662595A>G | gnomAD |
NCI-TCGA novel | p.Ser841Arg | missense variant | - | NC_000016.10:g.1662599C>G | NCI-TCGA |
rs1287473738 | p.Arg842Gln | missense variant | - | NC_000016.10:g.1662601G>A | gnomAD |
rs1303886936 | p.Arg842Ter | stop gained | - | NC_000016.10:g.1662600C>T | TOPMed |
rs775413489 | p.His843Arg | missense variant | - | NC_000016.10:g.1662604A>G | ExAC,gnomAD |
rs904822536 | p.His843Tyr | missense variant | - | NC_000016.10:g.1662603C>T | TOPMed |
rs763900969 | p.Gly844Arg | missense variant | - | NC_000016.10:g.1662606G>A | ExAC,TOPMed,gnomAD |
rs761540603 | p.Leu846Val | missense variant | - | NC_000016.10:g.1662612C>G | ExAC |
COSM967612 | p.Phe847Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1662617C>A | NCI-TCGA Cosmic |
rs763311481 | p.Phe847Ser | missense variant | - | NC_000016.10:g.1662616T>C | gnomAD |
rs146404798 | p.Ser850Asn | missense variant | - | NC_000016.10:g.1662625G>A | 1000Genomes,TOPMed |
rs545394109 | p.Ala853Thr | missense variant | - | NC_000016.10:g.1662633G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1466450946 | p.Thr856Ser | missense variant | - | NC_000016.10:g.1662643C>G | TOPMed,gnomAD |
rs1466450946 | p.Thr856Ile | missense variant | - | NC_000016.10:g.1662643C>T | TOPMed,gnomAD |
rs779805004 | p.Phe857Leu | missense variant | - | NC_000016.10:g.1662647C>G | ExAC,TOPMed,gnomAD |
rs1252475548 | p.Phe857Val | missense variant | - | NC_000016.10:g.1662645T>G | gnomAD |
rs778089266 | p.Arg858His | missense variant | - | NC_000016.10:g.1662649G>A | ExAC,TOPMed,gnomAD |
rs754545843 | p.Arg858Cys | missense variant | - | NC_000016.10:g.1662648C>T | ExAC,TOPMed,gnomAD |
rs1020783857 | p.Gln859Arg | missense variant | - | NC_000016.10:g.1662652A>G | TOPMed,gnomAD |
rs967429326 | p.Asn862Ser | missense variant | - | NC_000016.10:g.1662661A>G | TOPMed,gnomAD |
rs1001038539 | p.Ile864Val | missense variant | - | NC_000016.10:g.1662666A>G | TOPMed,gnomAD |
rs771350552 | p.Ser865Asn | missense variant | - | NC_000016.10:g.1662670G>A | ExAC,TOPMed,gnomAD |
rs771350552 | p.Ser865Thr | missense variant | - | NC_000016.10:g.1662670G>C | ExAC,TOPMed,gnomAD |
rs1418203059 | p.Gln867Ter | stop gained | - | NC_000016.10:g.1662764C>T | gnomAD |
rs758017798 | p.Gln867Arg | missense variant | - | NC_000016.10:g.1662765A>G | ExAC,gnomAD |
rs1232269585 | p.Gln867His | missense variant | - | NC_000016.10:g.1662766G>T | TOPMed |
rs1169924344 | p.Ser868Leu | missense variant | - | NC_000016.10:g.1662768C>T | gnomAD |
NCI-TCGA novel | p.Phe870Leu | missense variant | - | NC_000016.10:g.1662775C>A | NCI-TCGA |
rs750956677 | p.Pro875Ser | missense variant | - | NC_000016.10:g.1662788C>T | ExAC |
rs756367996 | p.Pro875Leu | missense variant | - | NC_000016.10:g.1662789C>T | ExAC,gnomAD |
rs1341993238 | p.Lys877Thr | missense variant | - | NC_000016.10:g.1662795A>C | gnomAD |
rs1450505016 | p.Arg879Gln | missense variant | - | NC_000016.10:g.1662801G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Arg879Leu | missense variant | - | NC_000016.10:g.1662801G>T | NCI-TCGA |
rs749674521 | p.Arg881Gln | missense variant | - | NC_000016.10:g.1662807G>A | ExAC,gnomAD |
rs780462220 | p.Arg881Trp | missense variant | - | NC_000016.10:g.1662806C>T | ExAC,TOPMed,gnomAD |
rs1042294114 | p.Arg884Trp | missense variant | - | NC_000016.10:g.1662815C>T | TOPMed |
rs755172548 | p.Lys885Ter | stop gained | - | NC_000016.10:g.1662818A>T | ExAC,gnomAD |
rs779145584 | p.Lys885Met | missense variant | - | NC_000016.10:g.1662819A>T | ExAC,gnomAD |
NCI-TCGA novel | p.Pro886Ser | missense variant | - | NC_000016.10:g.1662821C>T | NCI-TCGA |
NCI-TCGA novel | p.Pro886Leu | missense variant | - | NC_000016.10:g.1662822C>T | NCI-TCGA |
rs772160637 | p.Leu887Pro | missense variant | - | NC_000016.10:g.1662825T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Arg891Gly | missense variant | - | NC_000016.10:g.1665057A>G | NCI-TCGA |
rs768480875 | p.Ser898Leu | missense variant | - | NC_000016.10:g.1665079C>T | ExAC,TOPMed,gnomAD |
rs768480875 | p.Ser898Ter | stop gained | - | NC_000016.10:g.1665079C>A | ExAC,TOPMed,gnomAD |
rs1356678038 | p.Glu899Gly | missense variant | - | NC_000016.10:g.1665082A>G | TOPMed,gnomAD |
rs1210212849 | p.Glu899Lys | missense variant | - | NC_000016.10:g.1665081G>A | gnomAD |
rs1381055119 | p.Asn900His | missense variant | - | NC_000016.10:g.1665084A>C | TOPMed |
rs559271202 | p.Asn900Lys | missense variant | - | NC_000016.10:g.1665086C>G | 1000Genomes,TOPMed |
rs761271868 | p.Gln901Arg | missense variant | - | NC_000016.10:g.1665088A>G | ExAC,gnomAD |
rs376521525 | p.His903Arg | missense variant | - | NC_000016.10:g.1665094A>G | ESP,ExAC,TOPMed,gnomAD |
rs1012802667 | p.Asn904Ser | missense variant | - | NC_000016.10:g.1665097A>G | TOPMed |
rs1447328370 | p.Asn904Asp | missense variant | - | NC_000016.10:g.1665096A>G | gnomAD |
rs1268806393 | p.Val905Ile | missense variant | - | NC_000016.10:g.1665099G>A | gnomAD |
rs1375672041 | p.Cys906Tyr | missense variant | - | NC_000016.10:g.1665103G>A | gnomAD |
COSM3506483 | p.Ser907Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1665106C>T | NCI-TCGA Cosmic |
rs369831738 | p.Phe908Leu | missense variant | - | NC_000016.10:g.1665108T>C | ESP,ExAC,TOPMed,gnomAD |
rs765589851 | p.Phe908Cys | missense variant | - | NC_000016.10:g.1665109T>G | ExAC,gnomAD |
rs753123955 | p.Ile910Val | missense variant | - | NC_000016.10:g.1665114A>G | ExAC,TOPMed,gnomAD |
rs373148310 | p.Ile910Met | missense variant | - | NC_000016.10:g.1665116C>G | ESP,ExAC,TOPMed,gnomAD |
rs377270440 | p.Leu911Val | missense variant | - | NC_000016.10:g.1665117C>G | ESP,ExAC,gnomAD |
rs745809507 | p.Ser912Cys | missense variant | - | NC_000016.10:g.1665121C>G | ExAC,gnomAD |
rs781128527 | p.Ser912Ala | missense variant | - | NC_000016.10:g.1665120T>G | ExAC,gnomAD |
rs1392908277 | p.Asn913Asp | missense variant | - | NC_000016.10:g.1665123A>G | gnomAD |
rs769922762 | p.Ser914Phe | missense variant | - | NC_000016.10:g.1665127C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Ser914Cys | missense variant | - | NC_000016.10:g.1665127C>G | NCI-TCGA |
rs749145303 | p.Val916Ile | missense variant | - | NC_000016.10:g.1665132G>A | ExAC,TOPMed,gnomAD |
rs768325816 | p.Thr917Ser | missense variant | - | NC_000016.10:g.1665136C>G | ExAC,gnomAD |
COSM967614 | p.Arg919Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1666076G>A | NCI-TCGA Cosmic |
rs1180347685 | p.Ser921Leu | missense variant | - | NC_000016.10:g.1666082C>T | gnomAD |
COSM967615 | p.Ser921Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1666081T>A | NCI-TCGA Cosmic |
rs1445457686 | p.Arg923Trp | missense variant | - | NC_000016.10:g.1666087C>T | TOPMed,gnomAD |
rs746567769 | p.Arg923Gln | missense variant | - | NC_000016.10:g.1666088G>A | ExAC,TOPMed,gnomAD |
rs770253104 | p.Ile925Val | missense variant | - | NC_000016.10:g.1666093A>G | ExAC,gnomAD |
rs544773439 | p.Gln926Leu | missense variant | - | NC_000016.10:g.1666097A>T | ExAC,TOPMed,gnomAD |
rs544773439 | p.Gln926Arg | missense variant | - | NC_000016.10:g.1666097A>G | ExAC,TOPMed,gnomAD |
rs763322612 | p.Leu929Val | missense variant | - | NC_000016.10:g.1666105C>G | ExAC,gnomAD |
rs1464809357 | p.Ala933Thr | missense variant | - | NC_000016.10:g.1666117G>A | gnomAD |
rs1304948996 | p.Ala933Val | missense variant | - | NC_000016.10:g.1666118C>T | gnomAD |
rs1379530094 | p.Leu934Val | missense variant | - | NC_000016.10:g.1666120C>G | gnomAD |
rs764373660 | p.Arg936Gln | missense variant | - | NC_000016.10:g.1666127G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg936Trp | missense variant | - | NC_000016.10:g.1666126C>T | NCI-TCGA |
rs774850278 | p.Pro937Leu | missense variant | - | NC_000016.10:g.1666130C>T | ExAC,gnomAD |
rs767829841 | p.Ile938Met | missense variant | - | NC_000016.10:g.1666134C>G | ExAC,gnomAD |
rs1310352406 | p.Val939Met | missense variant | - | NC_000016.10:g.1666135G>A | TOPMed,gnomAD |
rs1310352406 | p.Val939Leu | missense variant | - | NC_000016.10:g.1666135G>C | TOPMed,gnomAD |
rs750499768 | p.Lys941Arg | missense variant | - | NC_000016.10:g.1666142A>G | ExAC,gnomAD |
rs1256334691 | p.Val942Phe | missense variant | - | NC_000016.10:g.1666144G>T | gnomAD |
rs1260699884 | p.Pro945Leu | missense variant | - | NC_000016.10:g.1666154C>T | TOPMed |
rs1461970716 | p.Gln946Ter | stop gained | - | NC_000016.10:g.1666156C>T | gnomAD |
rs777790907 | p.Gln946Pro | missense variant | - | NC_000016.10:g.1666157A>C | TOPMed,gnomAD |
rs777790907 | p.Gln946Arg | missense variant | - | NC_000016.10:g.1666157A>G | TOPMed,gnomAD |
rs1451340368 | p.Ala947Thr | missense variant | - | NC_000016.10:g.1666159G>A | gnomAD |
rs766372583 | p.Thr948Met | missense variant | - | NC_000016.10:g.1666163C>T | ExAC,TOPMed,gnomAD |
rs754733822 | p.Ser949Asn | missense variant | - | NC_000016.10:g.1666166G>A | ExAC,TOPMed,gnomAD |
rs1407236917 | p.His950Gln | missense variant | - | NC_000016.10:g.1666170C>A | gnomAD |
rs748029109 | p.Ala952Pro | missense variant | - | NC_000016.10:g.1666174G>C | ExAC,gnomAD |
rs756973137 | p.Ser953Ile | missense variant | - | NC_000016.10:g.1666422G>T | ExAC,gnomAD |
rs756973137 | p.Ser953Asn | missense variant | - | NC_000016.10:g.1666422G>A | ExAC,gnomAD |
rs757961173 | p.Ser953Gly | missense variant | - | NC_000016.10:g.1666177A>G | ExAC,TOPMed,gnomAD |
rs1180518526 | p.Ile955Thr | missense variant | - | NC_000016.10:g.1666428T>C | gnomAD |
rs368231819 | p.Ile955Val | missense variant | - | NC_000016.10:g.1666427A>G | 1000Genomes,ESP,TOPMed,gnomAD |
rs371924728 | p.Ile955Met | missense variant | - | NC_000016.10:g.1666429C>G | ESP,ExAC,TOPMed,gnomAD |
rs769013086 | p.Asp956Asn | missense variant | - | NC_000016.10:g.1666430G>A | ExAC,TOPMed,gnomAD |
rs551703109 | p.Leu957Ser | missense variant | - | NC_000016.10:g.1666434T>C | 1000Genomes,ExAC,gnomAD |
rs1163653973 | p.Ala959Val | missense variant | - | NC_000016.10:g.1666440C>T | gnomAD |
rs773500036 | p.Ser961Asn | missense variant | - | NC_000016.10:g.1666446G>A | ExAC,gnomAD |
rs1407889881 | p.Ser961Arg | missense variant | - | NC_000016.10:g.1666445A>C | gnomAD |
rs570491301 | p.Gly963Ser | missense variant | - | NC_000016.10:g.1666451G>A | 1000Genomes,ExAC,gnomAD |
rs570491301 | p.Gly963Cys | missense variant | - | NC_000016.10:g.1666451G>T | 1000Genomes,ExAC,gnomAD |
rs1328103825 | p.Leu965Arg | missense variant | - | NC_000016.10:g.1666458T>G | TOPMed |
rs1283758548 | p.Ser966Pro | missense variant | - | NC_000016.10:g.1666460T>C | gnomAD |
rs759698106 | p.Gly967Arg | missense variant | - | NC_000016.10:g.1666463G>A | ExAC,gnomAD |
rs765042149 | p.Asn968Tyr | missense variant | - | NC_000016.10:g.1666466A>T | ExAC,gnomAD |
rs752700402 | p.Pro969Ala | missense variant | - | NC_000016.10:g.1666469C>G | ExAC,TOPMed,gnomAD |
rs752700402 | p.Pro969Ser | missense variant | - | NC_000016.10:g.1666469C>T | ExAC,TOPMed,gnomAD |
rs375018736 | p.Pro971Thr | missense variant | - | NC_000016.10:g.1666475C>A | ESP,ExAC,TOPMed,gnomAD |
rs1237141885 | p.Asp974Asn | missense variant | - | NC_000016.10:g.1666484G>A | gnomAD |
NCI-TCGA novel | p.Asp974Gly | missense variant | - | NC_000016.10:g.1666485A>G | NCI-TCGA |
rs1018991461 | p.Glu976Gly | missense variant | - | NC_000016.10:g.1666491A>G | TOPMed,gnomAD |
rs566177647 | p.Glu976Lys | missense variant | - | NC_000016.10:g.1666490G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs369192985 | p.Gly977Cys | missense variant | - | NC_000016.10:g.1666493G>T | ESP,TOPMed |
rs780863297 | p.Leu978Phe | missense variant | - | NC_000016.10:g.1666498G>C | ExAC,TOPMed,gnomAD |
rs372466817 | p.Gly980Asp | missense variant | - | NC_000016.10:g.1666503G>A | ESP,ExAC,TOPMed,gnomAD |
rs1388990272 | p.Ile981Thr | missense variant | - | NC_000016.10:g.1666506T>C | gnomAD |
rs1265842180 | p.Ser982Pro | missense variant | - | NC_000016.10:g.1666508T>C | TOPMed |
rs1170337234 | p.Ser982Cys | missense variant | - | NC_000016.10:g.1666509C>G | gnomAD |
rs779232207 | p.Leu984Val | missense variant | - | NC_000016.10:g.1666514C>G | ExAC,gnomAD |
rs1413754602 | p.Leu984Arg | missense variant | - | NC_000016.10:g.1666515T>G | gnomAD |
rs1331943292 | p.Ser985Phe | missense variant | - | NC_000016.10:g.1666518C>T | gnomAD |
rs748691370 | p.Ser986Ala | missense variant | - | NC_000016.10:g.1666520T>G | ExAC,TOPMed,gnomAD |
rs372834355 | p.Glu988Lys | missense variant | - | NC_000016.10:g.1666526G>A | ExAC,TOPMed,gnomAD |
rs747427403 | p.Glu988Gly | missense variant | - | NC_000016.10:g.1666527A>G | ExAC,gnomAD |
rs1272377755 | p.Val989Met | missense variant | - | NC_000016.10:g.1666529G>A | TOPMed,gnomAD |
rs61741505 | p.Thr990Met | missense variant | - | NC_000016.10:g.1666533C>T | ExAC,TOPMed,gnomAD |
rs1340665313 | p.Thr990Ser | missense variant | - | NC_000016.10:g.1666532A>T | gnomAD |
rs745884113 | p.Ala992Gly | missense variant | - | NC_000016.10:g.1666539C>G | ExAC,TOPMed,gnomAD |
rs745884113 | p.Ala992Val | missense variant | - | NC_000016.10:g.1666539C>T | ExAC,TOPMed,gnomAD |
rs1443838044 | p.Ala992Pro | missense variant | - | NC_000016.10:g.1666538G>C | gnomAD |
rs775501492 | p.Ile993Leu | missense variant | - | NC_000016.10:g.1666541A>C | ExAC,gnomAD |
rs373808650 | p.Ser994Leu | missense variant | - | NC_000016.10:g.1666545C>T | ESP,ExAC,TOPMed,gnomAD |
rs1477638466 | p.Gly995Val | missense variant | - | NC_000016.10:g.1666548G>T | gnomAD |
rs1404024130 | p.Gln996His | missense variant | - | NC_000016.10:g.1666552G>C | gnomAD |
rs984646961 | p.Gln996Ter | stop gained | - | NC_000016.10:g.1666550C>T | TOPMed |
rs761628477 | p.Thr999Ile | missense variant | - | NC_000016.10:g.1666560C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Thr1001Ser | missense variant | - | NC_000016.10:g.1666566C>G | NCI-TCGA |
rs767029837 | p.Asp1004Asn | missense variant | - | NC_000016.10:g.1666574G>A | ExAC,TOPMed,gnomAD |
rs1433069840 | p.Asp1004Val | missense variant | - | NC_000016.10:g.1666575A>T | gnomAD |
rs750105642 | p.Gly1005Ala | missense variant | - | NC_000016.10:g.1666578G>C | ExAC,gnomAD |
rs753455308 | p.Thr1007Asn | missense variant | - | NC_000016.10:g.1666584C>A | ExAC,gnomAD |
rs1326049053 | p.Leu1008Pro | missense variant | - | NC_000016.10:g.1666587T>C | TOPMed,gnomAD |
rs1326049053 | p.Leu1008His | missense variant | - | NC_000016.10:g.1666587T>A | TOPMed,gnomAD |
rs1223761854 | p.Pro1009Leu | missense variant | - | NC_000016.10:g.1666590C>T | gnomAD |
rs1267164682 | p.Thr1010Ile | missense variant | - | NC_000016.10:g.1666593C>T | gnomAD |
rs201157275 | p.Val1011Met | missense variant | - | NC_000016.10:g.1666595G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs201157275 | p.Val1011Leu | missense variant | - | NC_000016.10:g.1666595G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs747333617 | p.Val1011Ala | missense variant | - | NC_000016.10:g.1666596T>C | ExAC,gnomAD |
rs201157275 | p.Val1011Leu | missense variant | - | NC_000016.10:g.1666595G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1457519003 | p.Gly1013Ser | missense variant | - | NC_000016.10:g.1667335G>A | gnomAD |
rs969629329 | p.Ser1014Cys | missense variant | - | NC_000016.10:g.1667339C>G | TOPMed,gnomAD |
rs768371106 | p.Asp1015Asn | missense variant | - | NC_000016.10:g.1667341G>A | ExAC,gnomAD |
rs1307829380 | p.Asp1015Gly | missense variant | - | NC_000016.10:g.1667342A>G | gnomAD |
rs1307189316 | p.Ile1020Val | missense variant | - | NC_000016.10:g.1667356A>G | gnomAD |
COSM3506489 | p.Pro1021Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1667359C>T | NCI-TCGA Cosmic |
rs768738069 | p.Ser1022Leu | missense variant | - | NC_000016.10:g.1667363C>T | ExAC,TOPMed,gnomAD |
rs527913798 | p.Ser1022Thr | missense variant | - | NC_000016.10:g.1667362T>A | 1000Genomes,ExAC,gnomAD |
rs185409776 | p.Glu1027Gln | missense variant | - | NC_000016.10:g.1667377G>C | 1000Genomes,gnomAD |
rs748076246 | p.Pro1028Leu | missense variant | - | NC_000016.10:g.1667381C>T | ExAC,TOPMed,gnomAD |
rs368602730 | p.Asp1031Gly | missense variant | - | NC_000016.10:g.1667390A>G | ESP,ExAC,TOPMed,gnomAD |
rs368602730 | p.Asp1031Val | missense variant | - | NC_000016.10:g.1667390A>T | ESP,ExAC,TOPMed,gnomAD |
rs776441540 | p.Ser1032Gly | missense variant | - | NC_000016.10:g.1667392A>G | ExAC,gnomAD |
rs759056569 | p.Ser1032Arg | missense variant | - | NC_000016.10:g.1667394T>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Phe1033Leu | missense variant | - | NC_000016.10:g.1667397C>A | NCI-TCGA |
rs368039138 | p.Gln1034His | missense variant | - | NC_000016.10:g.1667400G>C | ESP,ExAC,TOPMed |
rs759256028 | p.Gly1035Asp | missense variant | - | NC_000016.10:g.1667963G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Gly1035Ser | missense variant | - | NC_000016.10:g.1667962G>A | NCI-TCGA |
rs1406193372 | p.Ser1036Leu | missense variant | - | NC_000016.10:g.1667966C>T | TOPMed,gnomAD |
rs769621256 | p.Ser1037Tyr | missense variant | - | NC_000016.10:g.1667969C>A | ExAC,gnomAD |
rs1215038267 | p.Val1038Ala | missense variant | - | NC_000016.10:g.1667972T>C | gnomAD |
rs561147518 | p.Val1038Leu | missense variant | - | NC_000016.10:g.1667971G>C | 1000Genomes,ExAC,gnomAD |
rs1300368337 | p.Leu1039Pro | missense variant | - | NC_000016.10:g.1667975T>C | gnomAD |
rs750911902 | p.Leu1041Ser | missense variant | - | NC_000016.10:g.1667981T>C | ExAC,gnomAD |
rs1208235654 | p.Leu1041Phe | missense variant | - | NC_000016.10:g.1667982A>T | gnomAD |
rs768019391 | p.Leu1041Ile | missense variant | - | NC_000016.10:g.1667980T>A | ExAC,gnomAD |
rs1032319962 | p.Ser1042Pro | missense variant | - | NC_000016.10:g.1667983T>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser1042Phe | missense variant | - | NC_000016.10:g.1667984C>T | NCI-TCGA |
rs560160907 | p.Glu1043Asp | missense variant | - | NC_000016.10:g.1667988G>C | ExAC,TOPMed,gnomAD |
rs1053582606 | p.Ala1047Ser | missense variant | - | NC_000016.10:g.1667998G>T | TOPMed |
rs766728095 | p.Ala1047Gly | missense variant | - | NC_000016.10:g.1667999C>G | ExAC,gnomAD |
rs369042741 | p.Pro1048Arg | missense variant | - | NC_000016.10:g.1668002C>G | ESP,ExAC,TOPMed,gnomAD |
rs369042741 | p.Pro1048Leu | missense variant | - | NC_000016.10:g.1668002C>T | ESP,ExAC,TOPMed,gnomAD |
rs371340604 | p.Leu1049Ile | missense variant | - | NC_000016.10:g.1668004C>A | ESP,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu1049Phe | missense variant | - | NC_000016.10:g.1668004C>T | NCI-TCGA |
rs1025460930 | p.Gln1050His | missense variant | - | NC_000016.10:g.1668009G>T | gnomAD |
rs1365253385 | p.Gln1050Ter | stop gained | - | NC_000016.10:g.1668007C>T | TOPMed |
rs1156343541 | p.Gly1052Ala | missense variant | - | NC_000016.10:g.1668014G>C | gnomAD |
NCI-TCGA novel | p.Gly1052Asp | missense variant | - | NC_000016.10:g.1668014G>A | NCI-TCGA |
rs1011578658 | p.Leu1053Pro | missense variant | - | NC_000016.10:g.1668017T>C | TOPMed |
rs1459517777 | p.Leu1053Phe | missense variant | - | NC_000016.10:g.1668016C>T | TOPMed |
rs528913473 | p.Ile1055Val | missense variant | - | NC_000016.10:g.1668022A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1456603059 | p.Ile1055Thr | missense variant | - | NC_000016.10:g.1668023T>C | TOPMed |
rs777708207 | p.Pro1056Ser | missense variant | - | NC_000016.10:g.1668025C>T | ExAC,TOPMed,gnomAD |
rs757328704 | p.Pro1056Leu | missense variant | - | NC_000016.10:g.1668026C>T | ExAC,TOPMed,gnomAD |
rs777708207 | p.Pro1056Thr | missense variant | - | NC_000016.10:g.1668025C>A | ExAC,TOPMed,gnomAD |
rs769532726 | p.Leu1057Pro | missense variant | - | NC_000016.10:g.1668029T>C | ExAC,gnomAD |
rs769532726 | p.Leu1057Arg | missense variant | - | NC_000016.10:g.1668029T>G | ExAC,gnomAD |
COSM3969408 | p.Ser1058Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1668032C>T | NCI-TCGA Cosmic |
rs1318740949 | p.Ser1059Leu | missense variant | - | NC_000016.10:g.1668035C>T | TOPMed,gnomAD |
rs773981549 | p.Ser1060Leu | missense variant | - | NC_000016.10:g.1668038C>T | ExAC,gnomAD |
rs527303179 | p.Ser1060Ala | missense variant | - | NC_000016.10:g.1668037T>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs201284222 | p.Ser1062Gly | missense variant | - | NC_000016.10:g.1668043A>G | ExAC,TOPMed,gnomAD |
rs1269986707 | p.Ser1062Asn | missense variant | - | NC_000016.10:g.1668044G>A | gnomAD |
rs1270563399 | p.Ser1063Cys | missense variant | - | NC_000016.10:g.1668047C>G | TOPMed |
COSM1478557 | p.Ser1064Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1668049A>T | NCI-TCGA Cosmic |
rs1222139627 | p.Thr1065Ser | missense variant | - | NC_000016.10:g.1668052A>T | TOPMed |
rs776947246 | p.Arg1066Gln | missense variant | - | NC_000016.10:g.1668056G>A | ExAC,TOPMed,gnomAD |
rs961673221 | p.Pro1069Leu | missense variant | - | NC_000016.10:g.1668065C>T | TOPMed,gnomAD |
rs201809618 | p.Pro1070Ala | missense variant | - | NC_000016.10:g.1668067C>G | ESP,ExAC,TOPMed,gnomAD |
rs763487231 | p.Val1072Ala | missense variant | - | NC_000016.10:g.1668074T>C | gnomAD |
rs752875816 | p.Val1072Ile | missense variant | - | NC_000016.10:g.1668073G>A | ExAC,TOPMed,gnomAD |
rs1457817094 | p.Ala1074Asp | missense variant | - | NC_000016.10:g.1668080C>A | TOPMed |
rs1389368940 | p.Leu1076Phe | missense variant | - | NC_000016.10:g.1668085C>T | TOPMed |
rs986388090 | p.Asp1077Asn | missense variant | - | NC_000016.10:g.1668088G>A | TOPMed |
rs1289205136 | p.Ile1078Val | missense variant | - | NC_000016.10:g.1668091A>G | gnomAD |
rs1176368479 | p.Ile1078Thr | missense variant | - | NC_000016.10:g.1668092T>C | TOPMed |
rs1289205136 | p.Ile1078Phe | missense variant | - | NC_000016.10:g.1668091A>T | gnomAD |
COSM4487826 | p.Ser1079Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1668095C>T | NCI-TCGA Cosmic |
rs1016400262 | p.Pro1083Leu | missense variant | - | NC_000016.10:g.1668107C>T | TOPMed,gnomAD |
rs61746451 | p.Pro1084Ser | missense variant | - | NC_000016.10:g.1668109C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs755987546 | p.Asp1086Val | missense variant | - | NC_000016.10:g.1668116A>T | ExAC,gnomAD |
rs755987546 | p.Asp1086Gly | missense variant | - | NC_000016.10:g.1668116A>G | ExAC,gnomAD |
rs376251227 | p.Ala1087Val | missense variant | - | NC_000016.10:g.1668119C>T | ESP,ExAC,TOPMed,gnomAD |
rs1188362873 | p.Ala1087Thr | missense variant | - | NC_000016.10:g.1668118G>A | gnomAD |
rs747693903 | p.Gln1090Arg | missense variant | - | NC_000016.10:g.1668128A>G | ExAC,gnomAD |
rs141603777 | p.Glu1092Lys | missense variant | - | NC_000016.10:g.1668133G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM4832480 | p.Ala1094Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1668139G>A | NCI-TCGA Cosmic |
rs1256916957 | p.Thr1095Ile | missense variant | - | NC_000016.10:g.1668143C>T | TOPMed |
rs777141622 | p.His1096Asp | missense variant | - | NC_000016.10:g.1668145C>G | ExAC,TOPMed,gnomAD |
rs1380587649 | p.Asp1099Glu | missense variant | - | NC_000016.10:g.1668156C>G | gnomAD |
rs759832189 | p.Asp1099Asn | missense variant | - | NC_000016.10:g.1668154G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Ser1100Pro | missense variant | - | NC_000016.10:g.1668157T>C | NCI-TCGA |
rs539021325 | p.Ile1102Met | missense variant | - | NC_000016.10:g.1668165T>G | TOPMed,gnomAD |
rs1435909592 | p.Glu1103Gln | missense variant | - | NC_000016.10:g.1668166G>C | TOPMed |
rs1342065340 | p.Ile1104Phe | missense variant | - | NC_000016.10:g.1668169A>T | gnomAD |
rs763071302 | p.Ala1105Thr | missense variant | - | NC_000016.10:g.1668172G>A | ExAC,gnomAD |
rs751554390 | p.Ile1106Val | missense variant | - | NC_000016.10:g.1668175A>G | ExAC,gnomAD |
rs1240734764 | p.Ser1107Gly | missense variant | - | NC_000016.10:g.1668178A>G | gnomAD |
rs1462225676 | p.Ser1108Thr | missense variant | - | NC_000016.10:g.1668181T>A | gnomAD |
rs551374666 | p.Gly1109Arg | missense variant | - | NC_000016.10:g.1668184G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs551374666 | p.Gly1109Ser | missense variant | - | NC_000016.10:g.1668184G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs750395226 | p.Tyr1111Ser | missense variant | - | NC_000016.10:g.1668191A>C | ExAC,gnomAD |
rs779703361 | p.Gly1112Ser | missense variant | - | NC_000016.10:g.1668193G>A | ExAC,TOPMed,gnomAD |
rs767705444 | p.Gly1112Asp | missense variant | - | NC_000016.10:g.1669001G>A | ExAC,TOPMed,gnomAD |
rs750593408 | p.Val1115Ile | missense variant | - | NC_000016.10:g.1669009G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Val1115Ala | missense variant | - | NC_000016.10:g.1669010T>C | NCI-TCGA |
rs1223697357 | p.Pro1116His | missense variant | - | NC_000016.10:g.1669013C>A | gnomAD |
rs760671014 | p.Pro1116Ala | missense variant | - | NC_000016.10:g.1669012C>G | ExAC,TOPMed,gnomAD |
rs760671014 | p.Pro1116Ser | missense variant | - | NC_000016.10:g.1669012C>T | ExAC,TOPMed,gnomAD |
rs1256830369 | p.Leu1117Pro | missense variant | - | NC_000016.10:g.1669016T>C | TOPMed |
rs1347846882 | p.Ser1118Phe | missense variant | - | NC_000016.10:g.1669019C>T | TOPMed,gnomAD |
rs374312197 | p.Ser1118Pro | missense variant | - | NC_000016.10:g.1669018T>C | ESP,ExAC,TOPMed,gnomAD |
rs753534037 | p.Pro1119Ala | missense variant | - | NC_000016.10:g.1669021C>G | ExAC,gnomAD |
COSM3506493 | p.Pro1119Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1669022C>T | NCI-TCGA Cosmic |
COSM4058672 | p.Ala1120Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1669025C>T | NCI-TCGA Cosmic |
rs1490157045 | p.Leu1122Met | missense variant | - | NC_000016.10:g.1669030C>A | gnomAD |
rs1229212450 | p.Gly1124Val | missense variant | - | NC_000016.10:g.1669037G>T | TOPMed |
rs200956828 | p.Ser1125Asn | missense variant | - | NC_000016.10:g.1669040G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs200956828 | p.Ser1125Ile | missense variant | - | NC_000016.10:g.1669040G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs201896175 | p.Ser1125Gly | missense variant | - | NC_000016.10:g.1669039A>G | 1000Genomes |
NCI-TCGA novel | p.Asp1126His | missense variant | - | NC_000016.10:g.1669042G>C | NCI-TCGA |
rs1363316585 | p.Ser1127Asn | missense variant | - | NC_000016.10:g.1669046G>A | gnomAD |
rs1200325365 | p.Ser1127Arg | missense variant | - | NC_000016.10:g.1669045A>C | gnomAD |
rs113077689 | p.Ser1128Tyr | missense variant | - | NC_000016.10:g.1669049C>A | ExAC,TOPMed,gnomAD |
rs113077689 | p.Ser1128Cys | missense variant | - | NC_000016.10:g.1669049C>G | ExAC,TOPMed,gnomAD |
rs746569774 | p.Pro1132Thr | missense variant | - | NC_000016.10:g.1669060C>A | ExAC,gnomAD |
rs1301707439 | p.Ser1133Ala | missense variant | - | NC_000016.10:g.1669063T>G | gnomAD |
rs1301707439 | p.Ser1133Thr | missense variant | - | NC_000016.10:g.1669063T>A | gnomAD |
rs370509468 | p.Pro1134Thr | missense variant | - | NC_000016.10:g.1669066C>A | ESP,ExAC,gnomAD |
rs780635813 | p.Pro1134Leu | missense variant | - | NC_000016.10:g.1669067C>T | ExAC,TOPMed,gnomAD |
rs1449540806 | p.Ser1137Arg | missense variant | - | NC_000016.10:g.1669077C>G | TOPMed |
COSM1478558 | p.Gln1139Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000016.10:g.1669081C>T | NCI-TCGA Cosmic |
rs774926972 | p.His1141Leu | missense variant | - | NC_000016.10:g.1669088A>T | ExAC,gnomAD |
rs774926972 | p.His1141Pro | missense variant | - | NC_000016.10:g.1669088A>C | ExAC,gnomAD |
rs1279611151 | p.His1141Tyr | missense variant | - | NC_000016.10:g.1669087C>T | gnomAD |
rs772474983 | p.Ile1143Met | missense variant | - | NC_000016.10:g.1669095C>G | ExAC,TOPMed,gnomAD |
rs773398102 | p.Ala1144Thr | missense variant | - | NC_000016.10:g.1669096G>A | ExAC,gnomAD |
rs766176053 | p.Thr1147Ser | missense variant | - | NC_000016.10:g.1669105A>T | ExAC,gnomAD |
NCI-TCGA novel | p.Thr1147Ala | missense variant | - | NC_000016.10:g.1669105A>G | NCI-TCGA |
rs776639510 | p.His1148Arg | missense variant | - | NC_000016.10:g.1669109A>G | ExAC,gnomAD |
rs765075461 | p.Asp1149Asn | missense variant | - | NC_000016.10:g.1669111G>A | ExAC,gnomAD |
rs752545788 | p.Pro1150His | missense variant | - | NC_000016.10:g.1669115C>A | ExAC,gnomAD |
rs1162157575 | p.Tyr1153Cys | missense variant | - | NC_000016.10:g.1669124A>G | gnomAD |
rs1425758394 | p.Ser1155Asn | missense variant | - | NC_000016.10:g.1669130G>A | gnomAD |
rs763774914 | p.Asp1156Glu | missense variant | - | NC_000016.10:g.1669134C>G | ExAC,gnomAD |
rs1393943389 | p.Ser1157Pro | missense variant | - | NC_000016.10:g.1669135T>C | gnomAD |
rs751022982 | p.Ser1157Cys | missense variant | - | NC_000016.10:g.1669136C>G | ExAC,gnomAD |
rs780359215 | p.Asp1159Asn | missense variant | - | NC_000016.10:g.1669141G>A | ExAC,TOPMed,gnomAD |
rs1243703679 | p.Ser1161Leu | missense variant | - | NC_000016.10:g.1669148C>T | gnomAD |
rs368858091 | p.Phe1166Val | missense variant | - | NC_000016.10:g.1669162T>G | ESP,ExAC,TOPMed,gnomAD |
rs1286446160 | p.Ile1170Val | missense variant | - | NC_000016.10:g.1670672A>G | TOPMed |
rs1452975315 | p.Ile1170Thr | missense variant | - | NC_000016.10:g.1670673T>C | gnomAD |
rs1287100171 | p.Ser1171Tyr | missense variant | - | NC_000016.10:g.1670676C>A | gnomAD |
rs1314359484 | p.Pro1172Ala | missense variant | - | NC_000016.10:g.1670678C>G | gnomAD |
rs1363980850 | p.Glu1173Gln | missense variant | - | NC_000016.10:g.1670681G>C | gnomAD |
rs1382607334 | p.Ser1175Gly | missense variant | - | NC_000016.10:g.1670687A>G | gnomAD |
rs959717787 | p.Arg1176Trp | missense variant | - | NC_000016.10:g.1670690C>T | TOPMed |
rs771116293 | p.Arg1176Gln | missense variant | - | NC_000016.10:g.1670691G>A | ExAC,gnomAD |
rs776750162 | p.Lys1177Arg | missense variant | - | NC_000016.10:g.1670694A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Lys1177Asn | missense variant | - | NC_000016.10:g.1670695G>T | NCI-TCGA |
rs745972962 | p.Met1178Ile | missense variant | - | NC_000016.10:g.1670698G>T | ExAC,TOPMed,gnomAD |
rs377109203 | p.Pro1180Leu | missense variant | - | NC_000016.10:g.1670703C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1441429015 | p.Thr1181Ile | missense variant | - | NC_000016.10:g.1670706C>T | TOPMed |
rs59339153 | p.Ile1183Ser | missense variant | - | NC_000016.10:g.1670712T>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1215143307 | p.Ile1183Phe | missense variant | - | NC_000016.10:g.1670711A>T | gnomAD |
rs1215143307 | p.Ile1183Val | missense variant | - | NC_000016.10:g.1670711A>G | gnomAD |
rs59339153 | p.Ile1183Thr | missense variant | - | NC_000016.10:g.1670712T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs376262203 | p.Thr1185Ile | missense variant | - | NC_000016.10:g.1670718C>T | ESP,TOPMed |
COSM1376151 | p.Asn1186Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1670720A>G | NCI-TCGA Cosmic |
rs774073119 | p.Ser1187Gly | missense variant | - | NC_000016.10:g.1670723A>G | ExAC,gnomAD |
rs1268568834 | p.Gly1188Ser | missense variant | - | NC_000016.10:g.1670726G>A | gnomAD |
rs1479272511 | p.Gly1188Asp | missense variant | - | NC_000016.10:g.1670727G>A | gnomAD |
NCI-TCGA novel | p.Leu1192Phe | missense variant | - | NC_000016.10:g.1670738C>T | NCI-TCGA |
rs947619230 | p.Pro1194Leu | missense variant | - | NC_000016.10:g.1670745C>T | - |
rs760286999 | p.Gly1199Arg | missense variant | - | NC_000016.10:g.1670759G>A | ExAC,gnomAD |
rs765778573 | p.Ser1201Leu | missense variant | - | NC_000016.10:g.1670766C>T | ExAC,gnomAD |
rs534702752 | p.Arg1202Trp | missense variant | - | NC_000016.10:g.1670768C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs534702752 | p.Arg1202Gly | missense variant | - | NC_000016.10:g.1670768C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1285496501 | p.Arg1202Gln | missense variant | - | NC_000016.10:g.1670769G>A | TOPMed,gnomAD |
rs1223331349 | p.Ser1204Leu | missense variant | - | NC_000016.10:g.1670775C>T | gnomAD |
rs1304933732 | p.Phe1205Leu | missense variant | - | NC_000016.10:g.1670779T>G | TOPMed,gnomAD |
rs1319280736 | p.Val1206Met | missense variant | - | NC_000016.10:g.1670780G>A | gnomAD |
NCI-TCGA novel | p.Ser1207Phe | missense variant | - | NC_000016.10:g.1670784C>T | NCI-TCGA |
rs936715308 | p.Arg1208Gly | missense variant | - | NC_000016.10:g.1670786A>G | TOPMed |
rs757470497 | p.Ser1209Phe | missense variant | - | NC_000016.10:g.1670790C>T | ExAC,gnomAD |
rs1347214052 | p.Leu1210Arg | missense variant | - | NC_000016.10:g.1670793T>G | TOPMed |
rs371068391 | p.Val1213Ile | missense variant | - | NC_000016.10:g.1670801G>A | ESP,ExAC,TOPMed,gnomAD |
rs1469284862 | p.Ala1214Val | missense variant | - | NC_000016.10:g.1670805C>T | gnomAD |
rs1174993691 | p.Glu1215Gly | missense variant | - | NC_000016.10:g.1670808A>G | gnomAD |
rs1336134099 | p.Val1216Ala | missense variant | - | NC_000016.10:g.1673882T>C | gnomAD |
rs778740988 | p.Val1217Leu | missense variant | - | NC_000016.10:g.1673884G>T | ExAC,TOPMed,gnomAD |
rs771764619 | p.Met1224Val | missense variant | - | NC_000016.10:g.1673905A>G | ExAC,gnomAD |
rs773124425 | p.Met1224Thr | missense variant | - | NC_000016.10:g.1673906T>C | ExAC,gnomAD |
COSM4844201 | p.Met1225Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000016.10:g.1673910G>T | NCI-TCGA Cosmic |
rs1177959450 | p.Asn1226Ser | missense variant | - | NC_000016.10:g.1673912A>G | TOPMed |
NCI-TCGA novel | p.Asn1228Ser | missense variant | - | NC_000016.10:g.1673918A>G | NCI-TCGA |
rs1318131552 | p.Ile1233Val | missense variant | - | NC_000016.10:g.1673932A>G | gnomAD |
rs1241632488 | p.Ser1234Ala | missense variant | - | NC_000016.10:g.1673935T>G | TOPMed |
NCI-TCGA novel | p.Ser1234Pro | missense variant | - | NC_000016.10:g.1673935T>C | NCI-TCGA |
NCI-TCGA novel | p.Ser1234Cys | missense variant | - | NC_000016.10:g.1673936C>G | NCI-TCGA |
rs751287265 | p.Arg1235Leu | missense variant | - | NC_000016.10:g.1673939G>T | ExAC,TOPMed,gnomAD |
rs770753472 | p.Arg1235Trp | missense variant | - | NC_000016.10:g.1673938C>T | ExAC,TOPMed,gnomAD |
rs751287265 | p.Arg1235Gln | missense variant | - | NC_000016.10:g.1673939G>A | ExAC,TOPMed,gnomAD |
rs751287265 | p.Arg1235Pro | missense variant | - | NC_000016.10:g.1673939G>C | ExAC,TOPMed,gnomAD |
rs954450533 | p.Asn1237Ser | missense variant | - | NC_000016.10:g.1673945A>G | TOPMed,gnomAD |
rs774732375 | p.Asn1237His | missense variant | - | NC_000016.10:g.1673944A>C | ExAC,gnomAD |
rs774732375 | p.Asn1237Asp | missense variant | - | NC_000016.10:g.1673944A>G | ExAC,gnomAD |
rs1018206400 | p.Ala1240Ser | missense variant | - | NC_000016.10:g.1673953G>T | gnomAD |
NCI-TCGA novel | p.Gln1241Arg | missense variant | - | NC_000016.10:g.1673957A>G | NCI-TCGA |
rs767759770 | p.Ile1245Phe | missense variant | - | NC_000016.10:g.1673968A>T | ExAC,gnomAD |
rs367605120 | p.Ala1246Ser | missense variant | - | NC_000016.10:g.1673971G>T | ESP,ExAC,TOPMed,gnomAD |
rs1403911087 | p.Ala1246Val | missense variant | - | NC_000016.10:g.1673972C>T | gnomAD |
rs367605120 | p.Ala1246Thr | missense variant | - | NC_000016.10:g.1673971G>A | ESP,ExAC,TOPMed,gnomAD |
rs753870206 | p.Pro1248Leu | missense variant | - | NC_000016.10:g.1673978C>T | ExAC,gnomAD |
rs778839791 | p.Arg1250His | missense variant | - | NC_000016.10:g.1673984G>A | ExAC,TOPMed,gnomAD |
rs755030192 | p.Arg1250Cys | missense variant | - | NC_000016.10:g.1673983C>T | ExAC,gnomAD |
rs929504482 | p.Arg1251Gln | missense variant | - | NC_000016.10:g.1673987G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Arg1251Ter | stop gained | - | NC_000016.10:g.1673986C>T | NCI-TCGA |
rs1451547341 | p.Glu1252Ter | stop gained | - | NC_000016.10:g.1673989G>T | TOPMed |
rs368501359 | p.Asp1256Gly | missense variant | - | NC_000016.10:g.1674002A>G | 1000Genomes,ESP,ExAC,gnomAD |
rs368501359 | p.Asp1256Val | missense variant | - | NC_000016.10:g.1674002A>T | 1000Genomes,ESP,ExAC,gnomAD |
rs532337782 | p.Gly1257Asp | missense variant | - | NC_000016.10:g.1674005G>A | 1000Genomes,ExAC,gnomAD |
rs746838954 | p.Gly1258Ala | missense variant | - | NC_000016.10:g.1674008G>C | ExAC,gnomAD |
rs1283560875 | p.Gly1261Ser | missense variant | - | NC_000016.10:g.1674016G>A | gnomAD |
rs1445184712 | p.Gly1261Asp | missense variant | - | NC_000016.10:g.1674017G>A | gnomAD |
rs199923669 | p.Ala1263Thr | missense variant | - | NC_000016.10:g.1674022G>A | ESP,ExAC,TOPMed,gnomAD |
rs1383850584 | p.Val1264Ile | missense variant | - | NC_000016.10:g.1674025G>A | TOPMed |
rs1478271343 | p.Asp1266Asn | missense variant | - | NC_000016.10:g.1674031G>A | gnomAD |
rs1427446560 | p.Leu1267Arg | missense variant | - | NC_000016.10:g.1674035T>G | gnomAD |
rs1479085233 | p.Ser1268Cys | missense variant | - | NC_000016.10:g.1674038C>G | gnomAD |
GO ID | GO Term | Evidence |
---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM |
GO:0003677 | DNA binding | IEA |
GO:0003682 | chromatin binding | IBA |
GO ID | GO Term | Evidence |
---|---|---|
GO:0006357 | regulation of transcription by RNA polymerase II | IEA |
GO ID | GO Term | Evidence |
---|---|---|
GO:0005634 | nucleus | IBA |
Reactome ID | Reactome Term | Evidence |
---|
ID | Drug Name | Action | PubMed |
---|---|---|---|
D015123 | 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of CRAMP1 mRNA | 19150397 |
D016604 | Aflatoxin B1 | Aflatoxin B1 results in increased expression of CRAMP1 mRNA | 19770486 |
C015001 | arsenite | arsenite results in increased methylation of CRAMP1 promoter | 23974009 |
C044887 | beta-methylcholine | beta-methylcholine affects the expression of CRAMP1 mRNA | 21179406 |
C006780 | bisphenol A | bisphenol A results in decreased methylation of CRAMP1 promoter | 30906313 |
C006780 | bisphenol A | bisphenol A results in decreased expression of CRAMP1 mRNA | 29275510 |
C006780 | bisphenol A | bisphenol A affects the expression of CRAMP1 mRNA | 25181051 |
C018475 | butyraldehyde | butyraldehyde results in decreased expression of CRAMP1 mRNA | 26079696 |
D002794 | Choline | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of CRAMP1 gene | 20938992 |
D002994 | Clofibrate | Clofibrate results in decreased expression of CRAMP1 mRNA | 17585979 |
D016572 | Cyclosporine | Cyclosporine results in increased expression of CRAMP1 mRNA | 20106945; 25562108; |
D004317 | Doxorubicin | Doxorubicin results in decreased expression of CRAMP1 mRNA | 29803840 |
D004997 | Ethinyl Estradiol | Ethinyl Estradiol results in increased expression of CRAMP1 mRNA | 17942748 |
D004997 | Ethinyl Estradiol | [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CRAMP1 mRNA | 17942748 |
D005492 | Folic Acid | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of CRAMP1 gene | 20938992 |
D008715 | Methionine | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of CRAMP1 gene | 20938992 |
D008741 | Methyl Methanesulfonate | Methyl Methanesulfonate results in increased expression of CRAMP1 mRNA | 23649840 |
D037742 | Nanotubes, Carbon | Nanotubes, Carbon analog results in decreased expression of CRAMP1 mRNA | 25554681 |
D037742 | Nanotubes, Carbon | Nanotubes, Carbon results in decreased expression of CRAMP1 mRNA | 25554681 |
C046012 | pentanal | pentanal results in decreased expression of CRAMP1 mRNA | 26079696 |
C017947 | sodium arsenite | sodium arsenite results in decreased expression of CRAMP1 mRNA | 29361514 |
D013749 | Tetrachlorodibenzodioxin | [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CRAMP1 mRNA | 17942748 |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin results in increased expression of CRAMP1 mRNA | 19770486 |
D000077288 | Troglitazone | Troglitazone results in decreased expression of CRAMP1 mRNA | 28973697 |
D014635 | Valproic Acid | Valproic Acid affects the expression of CRAMP1 mRNA | 25979313 |
D001335 | Vehicle Emissions | Vehicle Emissions results in increased methylation of CRAMP1 gene | 25560391 |
PROSITE ID | PROSITE Term |
---|---|
PS51293 | SANT |