rs768561024 | p.Lys6Arg | missense variant | - | NC_000017.11:g.63550694A>G | ExAC,gnomAD |
rs1479094740 | p.Pro16Leu | missense variant | - | NC_000017.11:g.63550724C>T | gnomAD |
rs772876029 | p.Pro16Ser | missense variant | - | NC_000017.11:g.63550723C>T | ExAC,TOPMed,gnomAD |
rs1464847698 | p.Thr18Ala | missense variant | - | NC_000017.11:g.63550729A>G | gnomAD |
NCI-TCGA novel | p.Thr18Pro | missense variant | - | NC_000017.11:g.63550729A>C | NCI-TCGA |
NCI-TCGA novel | p.Ala21Val | missense variant | - | NC_000017.11:g.63550739C>T | NCI-TCGA |
NCI-TCGA novel | p.Asn23Tyr | missense variant | - | NC_000017.11:g.63550744A>T | NCI-TCGA |
NCI-TCGA novel | p.Trp24Cys | missense variant | - | NC_000017.11:g.63550749G>C | NCI-TCGA |
NCI-TCGA novel | p.Trp24Leu | missense variant | - | NC_000017.11:g.63550748G>T | NCI-TCGA |
rs199661608 | p.Ser25Gly | missense variant | - | NC_000017.11:g.63550750A>G | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Arg27Trp | missense variant | - | NC_000017.11:g.63550756C>T | NCI-TCGA |
NCI-TCGA novel | p.Lys30Arg | missense variant | - | NC_000017.11:g.63550766A>G | NCI-TCGA |
NCI-TCGA novel | p.Lys30Ter | stop gained | - | NC_000017.11:g.63550765A>T | NCI-TCGA |
rs189209549 | p.Lys30Asn | missense variant | - | NC_000017.11:g.63550767G>T | 1000Genomes |
rs897241140 | p.Ala35Val | missense variant | - | NC_000017.11:g.63550781C>T | TOPMed |
NCI-TCGA novel | p.Ser38Gly | missense variant | - | NC_000017.11:g.63550789A>G | NCI-TCGA |
rs767941373 | p.Val40Met | missense variant | - | NC_000017.11:g.63550795G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Tyr43Cys | missense variant | - | NC_000017.11:g.63550805A>G | NCI-TCGA |
NCI-TCGA novel | p.Asn45Ser | missense variant | - | NC_000017.11:g.63550811A>G | NCI-TCGA |
NCI-TCGA novel | p.Val47Ala | missense variant | - | NC_000017.11:g.63578471T>C | NCI-TCGA |
rs571745269 | p.Val50Ile | missense variant | - | NC_000017.11:g.63578479G>A | 1000Genomes,ExAC,gnomAD |
rs760995880 | p.Asp53Gly | missense variant | - | NC_000017.11:g.63578489A>G | ExAC,gnomAD |
rs1175281235 | p.Ser56Gly | missense variant | - | NC_000017.11:g.63578497A>G | gnomAD |
rs1454397308 | p.Glu58Gly | missense variant | - | NC_000017.11:g.63578504A>G | TOPMed,gnomAD |
rs992575433 | p.Thr64Ser | missense variant | - | NC_000017.11:g.63578522C>G | TOPMed |
rs1290747077 | p.Phe65Val | missense variant | - | NC_000017.11:g.63578524T>G | gnomAD |
rs754408924 | p.His67Gln | missense variant | - | NC_000017.11:g.63578532C>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Pro70Thr | missense variant | - | NC_000017.11:g.63578539C>A | NCI-TCGA |
rs1347783127 | p.Gly82Asp | missense variant | - | NC_000017.11:g.63578576G>A | gnomAD |
rs950826751 | p.Val83Asp | missense variant | - | NC_000017.11:g.63578579T>A | TOPMed |
rs1301213649 | p.Val83Ile | missense variant | - | NC_000017.11:g.63578578G>A | gnomAD |
rs750400387 | p.Tyr84Cys | missense variant | - | NC_000017.11:g.63578582A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Asp86Tyr | missense variant | - | NC_000017.11:g.63578587G>T | NCI-TCGA |
rs1352316406 | p.Ala89Ser | missense variant | - | NC_000017.11:g.63578596G>T | gnomAD |
rs1267712031 | p.Thr90Ala | missense variant | - | NC_000017.11:g.63578599A>G | TOPMed |
rs909429261 | p.Arg96His | missense variant | - | NC_000017.11:g.63578618G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Val100Ala | missense variant | - | NC_000017.11:g.63579338T>C | NCI-TCGA |
rs1184243532 | p.Gly101Val | missense variant | - | NC_000017.11:g.63579341G>T | gnomAD |
rs1213221378 | p.Thr105Asn | missense variant | - | NC_000017.11:g.63579353C>A | TOPMed |
rs1403862974 | p.Leu111Pro | missense variant | - | NC_000017.11:g.63579371T>C | gnomAD |
NCI-TCGA novel | p.Asn114Ser | missense variant | - | NC_000017.11:g.63579380A>G | NCI-TCGA |
NCI-TCGA novel | p.Trp128Leu | missense variant | - | NC_000017.11:g.63579422G>T | NCI-TCGA |
NCI-TCGA novel | p.Trp128Arg | missense variant | - | NC_000017.11:g.63579421T>C | NCI-TCGA |
rs1452776427 | p.Pro133Ser | missense variant | - | NC_000017.11:g.63579436C>T | gnomAD |
NCI-TCGA novel | p.Leu150TrpPheSerTerUnk | frameshift | - | NC_000017.11:g.63579858G>- | NCI-TCGA |
rs778766031 | p.Val155Met | missense variant | - | NC_000017.11:g.63579878G>A | ExAC,gnomAD |
rs372129328 | p.Leu156Ser | missense variant | - | NC_000017.11:g.63579882T>C | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg158Ter | stop gained | - | NC_000017.11:g.63579887C>T | NCI-TCGA |
rs746481906 | p.Val162Met | missense variant | - | NC_000017.11:g.63579899G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly164Asp | missense variant | - | NC_000017.11:g.63579906G>A | NCI-TCGA |
rs1348148386 | p.Lys175Arg | missense variant | - | NC_000017.11:g.63579939A>G | TOPMed |
NCI-TCGA novel | p.Tyr178His | missense variant | - | NC_000017.11:g.63583505T>C | NCI-TCGA |
rs1317199627 | p.Ala181Thr | missense variant | - | NC_000017.11:g.63583514G>A | TOPMed |
rs769425548 | p.Arg184Gln | missense variant | - | NC_000017.11:g.63583524G>A | ExAC,gnomAD |
rs1238032182 | p.Arg184Trp | missense variant | - | NC_000017.11:g.63583523C>T | gnomAD |
rs1359636592 | p.Gly186Arg | missense variant | - | NC_000017.11:g.63583529G>A | gnomAD |
rs1222461603 | p.Gly187Arg | missense variant | - | NC_000017.11:g.63583532G>C | TOPMed |
rs1441268776 | p.Met191Ile | missense variant | - | NC_000017.11:g.63583546G>A | gnomAD |
rs771179636 | p.Val195Ala | missense variant | - | NC_000017.11:g.63583557T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Ser200Leu | missense variant | - | NC_000017.11:g.63583572C>T | NCI-TCGA |
NCI-TCGA novel | p.Arg202Gln | missense variant | - | NC_000017.11:g.63583578G>A | NCI-TCGA |
NCI-TCGA novel | p.Arg202Leu | missense variant | - | NC_000017.11:g.63583578G>T | NCI-TCGA |
rs373483895 | p.Arg202Trp | missense variant | - | NC_000017.11:g.63583577C>T | ESP,ExAC,TOPMed,gnomAD |
rs1473585777 | p.Arg207Cys | missense variant | - | NC_000017.11:g.63583592C>T | gnomAD |
rs775653005 | p.Arg207His | missense variant | - | NC_000017.11:g.63583593G>A | ExAC,gnomAD |
rs1333344740 | p.Ile214Val | missense variant | - | NC_000017.11:g.63583613A>G | gnomAD |
NCI-TCGA novel | p.Tyr216ArgPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.63583617_63583618TT>- | NCI-TCGA |
NCI-TCGA novel | p.Glu217Lys | missense variant | - | NC_000017.11:g.63583622G>A | NCI-TCGA |
rs376094329 | p.Pro219Ala | missense variant | - | NC_000017.11:g.63583628C>G | ESP,ExAC,TOPMed,gnomAD |
rs762853328 | p.Arg226His | missense variant | - | NC_000017.11:g.63583650G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg226Cys | missense variant | - | NC_000017.11:g.63583649C>T | NCI-TCGA |
rs1160993626 | p.Cys228Ter | stop gained | - | NC_000017.11:g.63583657C>A | TOPMed |
NCI-TCGA novel | p.Trp229Cys | missense variant | - | NC_000017.11:g.63583660G>C | NCI-TCGA |
rs1417103898 | p.Lys231Asn | missense variant | - | NC_000017.11:g.63583666G>C | TOPMed |
NCI-TCGA novel | p.Pro234His | missense variant | - | NC_000017.11:g.63583674C>A | NCI-TCGA |
rs754893586 | p.Ala238Ser | missense variant | - | NC_000017.11:g.63583685G>T | ExAC,gnomAD |
NCI-TCGA novel | p.Ala238Val | missense variant | - | NC_000017.11:g.63583686C>T | NCI-TCGA |
rs1240338015 | p.Thr239Ile | missense variant | - | NC_000017.11:g.63583689C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Ala241Val | missense variant | - | NC_000017.11:g.63583695C>T | NCI-TCGA |
NCI-TCGA novel | p.Asp243Asn | missense variant | - | NC_000017.11:g.63583700G>A | NCI-TCGA |
NCI-TCGA novel | p.Glu246Lys | missense variant | - | NC_000017.11:g.63583709G>A | NCI-TCGA |
NCI-TCGA novel | p.Asp251His | missense variant | - | NC_000017.11:g.63585223G>C | NCI-TCGA |
rs925624922 | p.Val252Ile | missense variant | - | NC_000017.11:g.63585226G>A | TOPMed |
NCI-TCGA novel | p.Val259Ile | missense variant | - | NC_000017.11:g.63585247G>A | NCI-TCGA |
NCI-TCGA novel | p.Ala260Thr | missense variant | - | NC_000017.11:g.63585250G>A | NCI-TCGA |
NCI-TCGA novel | p.Asn264Ser | missense variant | - | NC_000017.11:g.63585263A>G | NCI-TCGA |
rs1479068747 | p.Arg266Ter | stop gained | - | NC_000017.11:g.63585268C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Arg266Gln | missense variant | - | NC_000017.11:g.63585269G>A | NCI-TCGA |
rs1401522873 | p.Arg266Pro | missense variant | - | NC_000017.11:g.63585269G>C | gnomAD |
rs1425855323 | p.Cys268Arg | missense variant | - | NC_000017.11:g.63585274T>C | gnomAD |
rs746192971 | p.Val269Ile | missense variant | - | NC_000017.11:g.63585277G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Val269Ala | missense variant | - | NC_000017.11:g.63585278T>C | NCI-TCGA |
rs758995656 | p.Asn270Ser | missense variant | - | NC_000017.11:g.63585281A>G | ExAC,gnomAD |
rs78760999 | p.Ser279Pro | missense variant | - | NC_000017.11:g.63585307T>C | ExAC,gnomAD |
rs1274925480 | p.Ala286Val | missense variant | - | NC_000017.11:g.63589000C>T | gnomAD |
NCI-TCGA novel | p.His289Tyr | missense variant | - | NC_000017.11:g.63589008C>T | NCI-TCGA |
rs771961083 | p.Gln290Arg | missense variant | - | NC_000017.11:g.63589012A>G | ExAC,gnomAD |
rs1157190737 | p.Arg301Gly | missense variant | - | NC_000017.11:g.63589044C>G | gnomAD |
rs768436828 | p.Arg301Gln | missense variant | - | NC_000017.11:g.63589045G>A | ExAC,gnomAD |
rs761458805 | p.Thr311Ala | missense variant | - | NC_000017.11:g.63589074A>G | ExAC,gnomAD |
rs761458805 | p.Thr311Ser | missense variant | - | NC_000017.11:g.63589074A>T | ExAC,gnomAD |
rs764808179 | p.Asn317Ser | missense variant | - | NC_000017.11:g.63589093A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ala330Thr | missense variant | - | NC_000017.11:g.63589131G>A | NCI-TCGA |
NCI-TCGA novel | p.Ile331Met | missense variant | - | NC_000017.11:g.63589136C>G | NCI-TCGA |
rs1459054523 | p.Cys332Phe | missense variant | - | NC_000017.11:g.63589138G>T | gnomAD |
NCI-TCGA novel | p.Cys336Phe | missense variant | - | NC_000017.11:g.63589150G>T | NCI-TCGA |
NCI-TCGA novel | p.Leu337Pro | missense variant | - | NC_000017.11:g.63589153T>C | NCI-TCGA |