rs1389050196 | p.Glu2Asp | missense variant | - | NC_000013.11:g.80337700C>A | TOPMed,gnomAD |
rs1433952843 | p.Glu2Lys | missense variant | - | NC_000013.11:g.80337702C>T | gnomAD |
rs202021168 | p.Ala5Val | missense variant | - | NC_000013.11:g.80337692G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gln6Glu | missense variant | - | NC_000013.11:g.80337690G>C | NCI-TCGA |
COSM4414438 | p.Gln6Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337689T>C | NCI-TCGA Cosmic |
rs1445307159 | p.Ser7Ile | missense variant | - | NC_000013.11:g.80337686C>A | gnomAD |
rs141948380 | p.Ser7Gly | missense variant | - | NC_000013.11:g.80337687T>C | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser7GluPheSerTerUnkUnk | frameshift | - | NC_000013.11:g.80337688_80337689insT | NCI-TCGA |
rs567043511 | p.Asn9Ser | missense variant | - | NC_000013.11:g.80337680T>C | 1000Genomes,ExAC,gnomAD |
rs771424788 | p.Gly10Arg | missense variant | - | NC_000013.11:g.80337678C>G | ExAC,TOPMed,gnomAD |
rs771424788 | p.Gly10Arg | missense variant | - | NC_000013.11:g.80337678C>T | ExAC,TOPMed,gnomAD |
COSM3469869 | p.Ser11Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337674G>A | NCI-TCGA Cosmic |
rs1184243800 | p.Pro13Thr | missense variant | - | NC_000013.11:g.80337669G>T | TOPMed |
rs1012981412 | p.Gln16Glu | missense variant | - | NC_000013.11:g.80337660G>C | TOPMed,gnomAD |
rs372480996 | p.Thr17Met | missense variant | - | NC_000013.11:g.80337656G>A | ESP,ExAC,TOPMed,gnomAD |
rs774765586 | p.Thr17Ser | missense variant | - | NC_000013.11:g.80337657T>A | gnomAD |
rs372480996 | p.Thr17Met | missense variant | - | NC_000013.11:g.80337656G>A | NCI-TCGA |
rs368770309 | p.Arg19Pro | missense variant | - | NC_000013.11:g.80337650C>G | ESP,gnomAD |
rs368770309 | p.Arg19His | missense variant | - | NC_000013.11:g.80337650C>T | ESP,gnomAD |
rs141331436 | p.Asp20Ala | missense variant | - | NC_000013.11:g.80337647T>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1294807470 | p.Asp20Asn | missense variant | - | NC_000013.11:g.80337648C>T | gnomAD |
rs1326668831 | p.Gly21Ser | missense variant | - | NC_000013.11:g.80337645C>T | gnomAD |
rs767200640 | p.Arg25Ser | missense variant | - | NC_000013.11:g.80337633G>T | ExAC,gnomAD |
rs757245505 | p.Arg25His | missense variant | - | NC_000013.11:g.80337632C>T | ExAC,TOPMed,gnomAD |
rs767200640 | p.Arg25Gly | missense variant | - | NC_000013.11:g.80337633G>C | ExAC,gnomAD |
rs1434458506 | p.Gly26Arg | missense variant | - | NC_000013.11:g.80337630C>T | TOPMed |
rs1389822163 | p.Glu27Gln | missense variant | - | NC_000013.11:g.80337627C>G | gnomAD |
rs751596093 | p.Asp29Asn | missense variant | - | NC_000013.11:g.80337621C>T | ExAC,gnomAD |
rs1174893630 | p.Pro30Thr | missense variant | - | NC_000013.11:g.80337618G>T | TOPMed |
rs1449032625 | p.Arg31Lys | missense variant | - | NC_000013.11:g.80337614C>T | gnomAD |
rs762829116 | p.Arg31Gly | missense variant | - | NC_000013.11:g.80337615T>C | ExAC,gnomAD |
rs771376928 | p.Asp32Glu | missense variant | - | NC_000013.11:g.80337610G>T | ExAC,gnomAD |
rs759745233 | p.Ala33Asp | missense variant | - | NC_000013.11:g.80337608G>T | ExAC,TOPMed,gnomAD |
rs759745233 | p.Ala33Val | missense variant | - | NC_000013.11:g.80337608G>A | ExAC,TOPMed,gnomAD |
rs759745233 | p.Ala33Val | missense variant | - | NC_000013.11:g.80337608G>A | NCI-TCGA |
rs1223824474 | p.Gln37His | missense variant | - | NC_000013.11:g.80337595C>G | gnomAD |
rs771050581 | p.Val38Leu | missense variant | - | NC_000013.11:g.80337594C>G | ExAC,TOPMed,gnomAD |
rs772271382 | p.Ser42Pro | missense variant | - | NC_000013.11:g.80337582A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ser42Tyr | missense variant | - | NC_000013.11:g.80337581G>T | NCI-TCGA |
rs748556088 | p.Gln45Arg | missense variant | - | NC_000013.11:g.80337572T>C | ExAC,gnomAD |
rs200366516 | p.Gln45His | missense variant | - | NC_000013.11:g.80337571C>A | 1000Genomes,ExAC,gnomAD |
rs1230673905 | p.Ala48Val | missense variant | - | NC_000013.11:g.80337563G>A | TOPMed,gnomAD |
COSM697253 | p.Ala48Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337563G>C | NCI-TCGA Cosmic |
rs755783967 | p.Ile49Phe | missense variant | - | NC_000013.11:g.80337561T>A | ExAC,gnomAD |
rs200813001 | p.Arg50Gln | missense variant | - | NC_000013.11:g.80337557C>T | 1000Genomes,ExAC,gnomAD |
rs200813001 | p.Arg50Gln | missense variant | - | NC_000013.11:g.80337557C>T | NCI-TCGA |
COSM948816 | p.Arg50Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000013.11:g.80337558G>A | NCI-TCGA Cosmic |
rs1345516409 | p.Thr52Ala | missense variant | - | NC_000013.11:g.80337552T>C | TOPMed |
COSM948815 | p.Glu57Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337536T>C | NCI-TCGA Cosmic |
COSM4923208 | p.Gly58Trp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337534C>A | NCI-TCGA Cosmic |
rs1349891029 | p.Pro59Ser | missense variant | - | NC_000013.11:g.80337531G>A | TOPMed |
rs138802158 | p.Thr60Ala | missense variant | - | NC_000013.11:g.80337528T>C | ESP,gnomAD |
COSM76578 | p.Val62Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337522C>T | NCI-TCGA Cosmic |
rs947314080 | p.Arg64Ile | missense variant | - | NC_000013.11:g.80337515C>A | gnomAD |
rs947314080 | p.Arg64Ile | missense variant | - | NC_000013.11:g.80337515C>A | NCI-TCGA |
rs1169840391 | p.Gly66Arg | missense variant | - | NC_000013.11:g.80337510C>T | gnomAD |
rs369061793 | p.Lys68Asn | missense variant | - | NC_000013.11:g.80337502C>A | ESP,ExAC,TOPMed,gnomAD |
rs759785348 | p.Ala70Thr | missense variant | - | NC_000013.11:g.80337498C>T | ExAC,TOPMed,gnomAD |
rs759785348 | p.Ala70Pro | missense variant | - | NC_000013.11:g.80337498C>G | ExAC,TOPMed,gnomAD |
rs766410528 | p.Pro71Leu | missense variant | - | NC_000013.11:g.80337494G>A | ExAC,gnomAD |
rs754102296 | p.Pro71Ser | missense variant | - | NC_000013.11:g.80337495G>A | ExAC,TOPMed,gnomAD |
rs143262252 | p.Arg72His | missense variant | - | NC_000013.11:g.80337491C>T | ESP,ExAC,TOPMed,gnomAD |
rs773647038 | p.Pro73Ala | missense variant | - | NC_000013.11:g.80337489G>C | ExAC,TOPMed,gnomAD |
rs1198333643 | p.Pro73Leu | missense variant | - | NC_000013.11:g.80337488G>A | gnomAD |
rs762291759 | p.Ser74Ala | missense variant | - | NC_000013.11:g.80337486A>C | ExAC,gnomAD |
rs774762413 | p.Thr75Ala | missense variant | - | NC_000013.11:g.80337483T>C | ExAC,gnomAD |
rs1326893559 | p.Gln76Arg | missense variant | - | NC_000013.11:g.80337479T>C | gnomAD |
rs530541115 | p.His77Pro | missense variant | - | NC_000013.11:g.80337476T>G | 1000Genomes,ExAC,gnomAD |
rs530541115 | p.His77Arg | missense variant | - | NC_000013.11:g.80337476T>C | 1000Genomes,ExAC,gnomAD |
rs777215929 | p.Glu80Asp | missense variant | - | NC_000013.11:g.80337466C>G | ExAC,gnomAD |
rs746523784 | p.Glu80Gln | missense variant | - | NC_000013.11:g.80337468C>G | ExAC,TOPMed,gnomAD |
rs376920757 | p.Arg81Thr | missense variant | - | NC_000013.11:g.80337464C>G | ESP,ExAC,TOPMed,gnomAD |
rs376920757 | p.Arg81Lys | missense variant | - | NC_000013.11:g.80337464C>T | ESP,ExAC,TOPMed,gnomAD |
rs561847010 | p.Leu82Pro | missense variant | - | NC_000013.11:g.80337461A>G | 1000Genomes,ExAC,gnomAD |
rs752628401 | p.Leu82Val | missense variant | - | NC_000013.11:g.80337462G>C | ExAC,gnomAD |
rs754765201 | p.Gly84Arg | missense variant | - | NC_000013.11:g.80337456C>G | ExAC,gnomAD |
rs754765201 | p.Gly84Ser | missense variant | - | NC_000013.11:g.80337456C>T | ExAC,gnomAD |
rs1158468425 | p.Pro86Ala | missense variant | - | NC_000013.11:g.80337450G>C | gnomAD |
rs1234069800 | p.His88Tyr | missense variant | - | NC_000013.11:g.80337444G>A | TOPMed,gnomAD |
rs547859496 | p.Arg89His | missense variant | - | NC_000013.11:g.80337440C>T | 1000Genomes |
rs766597189 | p.Pro92Ser | missense variant | - | NC_000013.11:g.80337432G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu94Arg | missense variant | - | NC_000013.11:g.80337425A>C | NCI-TCGA |
NCI-TCGA novel | p.His96Arg | missense variant | - | NC_000013.11:g.80337419T>C | NCI-TCGA |
rs1441415778 | p.Ser97Leu | missense variant | - | NC_000013.11:g.80337416G>A | TOPMed,gnomAD |
rs1245203690 | p.Gln98Pro | missense variant | - | NC_000013.11:g.80337413T>G | gnomAD |
rs202166263 | p.Gln98Lys | missense variant | - | NC_000013.11:g.80337414G>T | 1000Genomes,ExAC,TOPMed |
rs762358137 | p.His100Tyr | missense variant | - | NC_000013.11:g.80337408G>A | ExAC,gnomAD |
rs1337608150 | p.Arg104Pro | missense variant | - | NC_000013.11:g.80337395C>G | TOPMed,gnomAD |
rs776355694 | p.Arg104Gly | missense variant | - | NC_000013.11:g.80337396G>C | ExAC,gnomAD |
rs1337608150 | p.Arg104Gln | missense variant | - | NC_000013.11:g.80337395C>T | TOPMed,gnomAD |
rs770702443 | p.Ala105Gly | missense variant | - | NC_000013.11:g.80337392G>C | ExAC,gnomAD |
COSM3469868 | p.Ala105Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337392G>A | NCI-TCGA Cosmic |
rs504122 | p.Pro106Ser | missense variant | - | NC_000013.11:g.80337390G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1401740371 | p.Pro106Arg | missense variant | - | NC_000013.11:g.80337389G>C | gnomAD |
rs504122 | p.Pro106Thr | missense variant | - | NC_000013.11:g.80337390G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs504122 | p.Pro106Ala | missense variant | - | NC_000013.11:g.80337390G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs771519323 | p.Arg109Ser | missense variant | - | NC_000013.11:g.80337379T>A | ExAC,gnomAD |
rs748075874 | p.Ser110Cys | missense variant | - | NC_000013.11:g.80337377G>C | ExAC,gnomAD |
rs754705712 | p.Ser112Asn | missense variant | - | NC_000013.11:g.80337371C>T | ExAC,TOPMed,gnomAD |
rs754705712 | p.Ser112Thr | missense variant | - | NC_000013.11:g.80337371C>G | ExAC,TOPMed,gnomAD |
rs61756189 | p.Thr113Ala | missense variant | - | NC_000013.11:g.80337369T>C | ESP,ExAC,TOPMed,gnomAD |
rs750696145 | p.Ser116Leu | missense variant | - | NC_000013.11:g.80337359G>A | ExAC,gnomAD |
rs1287620323 | p.Gly117Ala | missense variant | - | NC_000013.11:g.80337356C>G | gnomAD |
rs867349456 | p.Ser118Leu | missense variant | - | NC_000013.11:g.80337353G>A | TOPMed,gnomAD |
RCV000207508 | p.Arg119Trp | missense variant | IgA nephropathy, susceptibility to, 3 (IGAN3) | NC_000013.11:g.80337351G>A | ClinVar |
rs1315863703 | p.Arg119Pro | missense variant | - | NC_000013.11:g.80337350C>G | gnomAD |
rs1315863703 | p.Arg119Gln | missense variant | - | NC_000013.11:g.80337350C>T | gnomAD |
rs869025336 | p.Arg119Trp | missense variant | - | NC_000013.11:g.80337351G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Arg119Leu | missense variant | - | NC_000013.11:g.80337350C>A | NCI-TCGA |
rs1315863703 | p.Arg119Gln | missense variant | - | NC_000013.11:g.80337350C>T | NCI-TCGA Cosmic |
rs1363308358 | p.Ser120Gly | missense variant | - | NC_000013.11:g.80337348T>C | gnomAD |
rs1269908375 | p.Ser121Thr | missense variant | - | NC_000013.11:g.80337344C>G | gnomAD |
rs147789290 | p.Thr122Ala | missense variant | - | NC_000013.11:g.80337342T>C | ESP,ExAC,TOPMed,gnomAD |
rs752056670 | p.Thr122Met | missense variant | - | NC_000013.11:g.80337341G>A | ExAC,gnomAD |
rs775982350 | p.Arg123Thr | missense variant | - | NC_000013.11:g.80337338C>G | ExAC,gnomAD |
rs144291807 | p.Arg123Trp | missense variant | - | NC_000013.11:g.80337339T>A | ESP,ExAC,TOPMed,gnomAD |
rs775982350 | p.Arg123Lys | missense variant | - | NC_000013.11:g.80337338C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Arg123Met | missense variant | - | NC_000013.11:g.80337338C>A | NCI-TCGA |
rs1312541122 | p.Ser127Thr | missense variant | - | NC_000013.11:g.80337326C>G | gnomAD |
rs577081286 | p.Ser127Arg | missense variant | - | NC_000013.11:g.80337325G>T | 1000Genomes |
NCI-TCGA novel | p.Ser127Gly | missense variant | - | NC_000013.11:g.80337327T>C | NCI-TCGA |
rs772768746 | p.Gln133Glu | missense variant | - | NC_000013.11:g.80337309G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu135Met | missense variant | - | NC_000013.11:g.80337303G>T | NCI-TCGA |
rs1373899933 | p.Leu136Pro | missense variant | - | NC_000013.11:g.80337299A>G | TOPMed |
rs747621224 | p.Gly137Glu | missense variant | - | NC_000013.11:g.80337296C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly137Arg | missense variant | - | NC_000013.11:g.80337297C>T | NCI-TCGA |
rs1330785319 | p.Ser138Ter | stop gained | - | NC_000013.11:g.80337293G>C | TOPMed,gnomAD |
rs746584791 | p.Phe140Ser | missense variant | - | NC_000013.11:g.80337287A>G | ExAC,TOPMed,gnomAD |
rs768580715 | p.Ser141Pro | missense variant | - | NC_000013.11:g.80337285A>G | ExAC,TOPMed,gnomAD |
rs1291535013 | p.Ser141Tyr | missense variant | - | NC_000013.11:g.80337284G>T | TOPMed |
rs779805758 | p.Ser142Pro | missense variant | - | NC_000013.11:g.80337282A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ser142Phe | missense variant | - | NC_000013.11:g.80337281G>A | NCI-TCGA |
rs778275764 | p.Gly143Arg | missense variant | - | NC_000013.11:g.80337279C>T | TOPMed,gnomAD |
rs778275764 | p.Gly143Arg | missense variant | - | NC_000013.11:g.80337279C>G | TOPMed,gnomAD |
COSM3885535 | p.Pro144Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337276G>A | NCI-TCGA Cosmic |
rs146602387 | p.Val145Phe | missense variant | - | NC_000013.11:g.80337273C>A | 1000Genomes |
NCI-TCGA novel | p.Ala146Val | missense variant | - | NC_000013.11:g.80337269G>A | NCI-TCGA |
NCI-TCGA novel | p.Ala146Thr | missense variant | - | NC_000013.11:g.80337270C>T | NCI-TCGA |
rs904292048 | p.Gly148Ser | missense variant | - | NC_000013.11:g.80337264C>T | TOPMed |
rs367880580 | p.Ile149Val | missense variant | - | NC_000013.11:g.80337261T>C | ESP,ExAC,TOPMed,gnomAD |
rs1417193005 | p.Ile150Val | missense variant | - | NC_000013.11:g.80337258T>C | TOPMed |
rs770217072 | p.Arg151Gly | missense variant | - | NC_000013.11:g.80337255G>C | ExAC,TOPMed,gnomAD |
rs1167458110 | p.Arg151Gln | missense variant | - | NC_000013.11:g.80337254C>T | TOPMed |
rs770217072 | p.Arg151Trp | missense variant | - | NC_000013.11:g.80337255G>A | ExAC,TOPMed,gnomAD |
rs770217072 | p.Arg151Trp | missense variant | - | NC_000013.11:g.80337255G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs35327895 | p.Val152Ala | missense variant | - | NC_000013.11:g.80337251A>G | gnomAD |
rs1427241781 | p.Pro154His | missense variant | - | NC_000013.11:g.80337245G>T | gnomAD |
rs764325903 | p.Lys155Gln | missense variant | - | NC_000013.11:g.80337243T>G | ExAC,gnomAD |
rs1408015996 | p.Leu158Ile | missense variant | - | NC_000013.11:g.80337234G>T | TOPMed |
rs575635189 | p.Leu163Phe | missense variant | - | NC_000013.11:g.80337219G>A | 1000Genomes,ExAC,gnomAD |
COSM948814 | p.Pro165Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337213G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Glu169Lys | missense variant | - | NC_000013.11:g.80337201C>T | NCI-TCGA |
rs1355075892 | p.Glu169Val | missense variant | - | NC_000013.11:g.80337200T>A | TOPMed |
rs1270955592 | p.Leu171Trp | missense variant | - | NC_000013.11:g.80337194A>C | gnomAD |
rs765654053 | p.Gly172Cys | missense variant | - | NC_000013.11:g.80337192C>A | ExAC,gnomAD |
rs765654053 | p.Gly172Cys | missense variant | - | NC_000013.11:g.80337192C>A | NCI-TCGA,NCI-TCGA Cosmic |
rs572406337 | p.Ala175Thr | missense variant | - | NC_000013.11:g.80337183C>T | TOPMed |
rs767076954 | p.Tyr176Asn | missense variant | - | NC_000013.11:g.80337180A>T | ExAC,gnomAD |
rs554006225 | p.Arg177Ser | missense variant | - | NC_000013.11:g.80337175C>A | gnomAD |
rs761596736 | p.Gly182Asp | missense variant | - | NC_000013.11:g.80337161C>T | ExAC,gnomAD |
rs1324785933 | p.Lys185Arg | missense variant | - | NC_000013.11:g.80337152T>C | TOPMed,gnomAD |
rs1324785933 | p.Lys185Thr | missense variant | - | NC_000013.11:g.80337152T>G | TOPMed,gnomAD |
rs773723743 | p.Glu188Gly | missense variant | - | NC_000013.11:g.80337143T>C | ExAC,TOPMed,gnomAD |
COSM6139560 | p.Tyr191Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337134T>A | NCI-TCGA Cosmic |
COSM948812 | p.Arg193Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337128C>A | NCI-TCGA Cosmic |
rs749195415 | p.Pro194Leu | missense variant | - | NC_000013.11:g.80337125G>A | ExAC,TOPMed,gnomAD |
rs749195415 | p.Pro194Arg | missense variant | - | NC_000013.11:g.80337125G>C | ExAC,TOPMed,gnomAD |
rs769531251 | p.Asp198His | missense variant | - | NC_000013.11:g.80337114C>G | ExAC,gnomAD |
rs745663741 | p.Trp199Ser | missense variant | - | NC_000013.11:g.80337110C>G | ExAC,gnomAD |
rs745663741 | p.Trp199Ter | stop gained | - | NC_000013.11:g.80337110C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Cys201AlaPheSerTerUnkUnk | frameshift | - | NC_000013.11:g.80337106G>- | NCI-TCGA |
rs771563312 | p.Asp202Asn | missense variant | - | NC_000013.11:g.80337102C>T | ExAC,TOPMed,gnomAD |
rs747303716 | p.Lys203Arg | missense variant | - | NC_000013.11:g.80337098T>C | ExAC,gnomAD |
rs1257428671 | p.Cys205Ser | missense variant | - | NC_000013.11:g.80337092C>G | TOPMed |
rs777966595 | p.Leu206Phe | missense variant | - | NC_000013.11:g.80337090G>A | ExAC,TOPMed,gnomAD |
rs150929865 | p.Asp214Glu | missense variant | - | NC_000013.11:g.80337064G>C | ESP,ExAC,TOPMed,gnomAD |
COSM948810 | p.Asp214Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80337065T>C | NCI-TCGA Cosmic |
rs755298994 | p.Tyr215Cys | missense variant | - | NC_000013.11:g.80337062T>C | ExAC,gnomAD |
rs766828965 | p.Val219Ala | missense variant | - | NC_000013.11:g.80337050A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Cys221Tyr | missense variant | - | NC_000013.11:g.80337044C>T | NCI-TCGA |
rs751254982 | p.Gly224Ser | missense variant | - | NC_000013.11:g.80337036C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Phe226Leu | missense variant | - | NC_000013.11:g.80337030A>G | NCI-TCGA |
NCI-TCGA novel | p.His228Asp | missense variant | - | NC_000013.11:g.80337024G>C | NCI-TCGA |
rs573193459 | p.Asp233Glu | missense variant | - | NC_000013.11:g.80337007A>C | 1000Genomes,ExAC,gnomAD |
rs1272944733 | p.Asp239Glu | missense variant | - | NC_000013.11:g.80336989G>C | TOPMed,gnomAD |
rs775349105 | p.Asn240Ser | missense variant | - | NC_000013.11:g.80336987T>C | ExAC,gnomAD |
rs1171758198 | p.Cys242Tyr | missense variant | - | NC_000013.11:g.80336981C>T | TOPMed |
NCI-TCGA novel | p.Cys244Ter | stop gained | - | NC_000013.11:g.80336974G>T | NCI-TCGA |
NCI-TCGA novel | p.Gln246His | missense variant | - | NC_000013.11:g.80336968C>A | NCI-TCGA |
rs1452884347 | p.His248Pro | missense variant | - | NC_000013.11:g.80336963T>G | gnomAD |
NCI-TCGA novel | p.His248Gln | missense variant | - | NC_000013.11:g.80336962G>C | NCI-TCGA |
COSM469588 | p.Cys249Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.80336960C>T | NCI-TCGA Cosmic |
rs1161275655 | p.Trp253Leu | missense variant | - | NC_000013.11:g.80336948C>A | gnomAD |
rs1335539836 | p.Met256Leu | missense variant | - | NC_000013.11:g.80336940T>A | TOPMed |
rs776268097 | p.Val258Ile | missense variant | - | NC_000013.11:g.80336934C>T | ExAC,gnomAD |
rs1383507887 | p.Met259Val | missense variant | - | NC_000013.11:g.80336931T>C | gnomAD |
rs1183175721 | p.Leu263Phe | missense variant | - | NC_000013.11:g.80336917C>G | gnomAD |
NCI-TCGA novel | p.Cys265Ter | stop gained | - | NC_000013.11:g.80336912_80336913insTTT | NCI-TCGA |
rs770798214 | p.Cys268Gly | missense variant | - | NC_000013.11:g.80336904A>C | ExAC,gnomAD |
rs1203763232 | p.Ala272Ser | missense variant | - | NC_000013.11:g.80336892C>A | gnomAD |
rs747157293 | p.Lys273Arg | missense variant | - | NC_000013.11:g.80336888T>C | ExAC,gnomAD |
rs370842722 | p.Gly274Cys | missense variant | - | NC_000013.11:g.80336886C>A | ESP,ExAC,TOPMed,gnomAD |
rs1244855227 | p.Cys275Tyr | missense variant | - | NC_000013.11:g.80336882C>T | TOPMed,gnomAD |
rs79066821 | p.Gly281Glu | missense variant | - | NC_000013.11:g.80336864C>T | ExAC,TOPMed,gnomAD |
rs79066821 | p.Gly281Val | missense variant | - | NC_000013.11:g.80336864C>A | ExAC,TOPMed,gnomAD |
rs748239106 | p.Arg285Gly | missense variant | - | NC_000013.11:g.80336853G>C | ExAC,TOPMed,gnomAD |
rs779197678 | p.Arg285Gln | missense variant | - | NC_000013.11:g.80336852C>T | ExAC,TOPMed,gnomAD |
rs748239106 | p.Arg285Trp | missense variant | - | NC_000013.11:g.80336853G>A | ExAC,TOPMed,gnomAD |
rs1384547834 | p.Asn287Lys | missense variant | - | NC_000013.11:g.80336845G>C | gnomAD |
NCI-TCGA novel | p.Cys291Arg | missense variant | - | NC_000013.11:g.80336835A>G | NCI-TCGA |
rs1451158201 | p.Arg292His | missense variant | - | NC_000013.11:g.80336831C>T | TOPMed |
rs751166788 | p.Arg292Cys | missense variant | - | NC_000013.11:g.80336832G>A | ExAC,TOPMed,gnomAD |
rs751166788 | p.Arg292Cys | missense variant | - | NC_000013.11:g.80336832G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs1363735546 | p.Cys293Arg | missense variant | - | NC_000013.11:g.80336829A>G | gnomAD |
NCI-TCGA novel | p.Lys294Thr | missense variant | - | NC_000013.11:g.80336825T>G | NCI-TCGA |
NCI-TCGA novel | p.Lys294Glu | missense variant | - | NC_000013.11:g.80336826T>C | NCI-TCGA |
rs1191449743 | p.Asn295His | missense variant | - | NC_000013.11:g.80336823T>G | TOPMed |
rs763750552 | p.Asn295Ser | missense variant | - | NC_000013.11:g.80336822T>C | ExAC |
NCI-TCGA novel | p.Ser296Ter | stop gained | - | NC_000013.11:g.80336819G>C | NCI-TCGA |
rs1163020327 | p.Asn297Tyr | missense variant | - | NC_000013.11:g.80336817T>A | gnomAD |
NCI-TCGA novel | p.Asn297GlnPheSerTerUnkUnk | frameshift | - | NC_000013.11:g.80336814_80336817TGTT>- | NCI-TCGA |
NCI-TCGA novel | p.Asn297Thr | missense variant | - | NC_000013.11:g.80336816T>G | NCI-TCGA |
rs1425467478 | p.Thr298Ser | missense variant | - | NC_000013.11:g.80336814T>A | gnomAD |
rs762383535 | p.Val299Ala | missense variant | - | NC_000013.11:g.80336810A>G | ExAC,gnomAD |
rs752200065 | p.Cys301Tyr | missense variant | - | NC_000013.11:g.80336804C>T | ExAC,gnomAD |
rs1262917592 | p.Thr305Asn | missense variant | - | NC_000013.11:g.80336792G>T | gnomAD |
rs1262917592 | p.Thr305Ser | missense variant | - | NC_000013.11:g.80336792G>C | gnomAD |
rs759359294 | p.Val306Ile | missense variant | - | NC_000013.11:g.80336790C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Val306Ala | missense variant | - | NC_000013.11:g.80336789A>G | NCI-TCGA |
rs766036986 | p.Pro307Thr | missense variant | - | NC_000013.11:g.80336787G>T | ExAC,gnomAD |
rs760529490 | p.Pro307Arg | missense variant | - | NC_000013.11:g.80336786G>C | ExAC,TOPMed,gnomAD |
rs760529490 | p.Pro307Leu | missense variant | - | NC_000013.11:g.80336786G>A | ExAC,TOPMed,gnomAD |
rs981467157 | p.Pro308Ala | missense variant | - | NC_000013.11:g.80336784G>C | TOPMed,gnomAD |
rs981467157 | p.Pro308Ser | missense variant | - | NC_000013.11:g.80336784G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Pro308LeuPheSerTerUnkUnk | frameshift | - | NC_000013.11:g.80336783G>- | NCI-TCGA |
rs748443333 | p.Glu312Gly | missense variant | - | NC_000013.11:g.80336771T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Lys313AsnPheSerTerUnkUnk | frameshift | - | NC_000013.11:g.80336767T>- | NCI-TCGA |
rs1425368251 | p.Ter316Leu | stop lost | - | NC_000013.11:g.80336759T>A | gnomAD |
rs987689192 | p.Ter316Gln | stop lost | - | NC_000013.11:g.80336760A>G | TOPMed,gnomAD |