rs1198034608 | p.Arg3Pro | missense variant | - | NC_000017.11:g.82051759C>G | TOPMed |
rs527415468 | p.Arg3Cys | missense variant | - | NC_000017.11:g.82051760G>A | 1000Genomes,TOPMed,gnomAD |
rs1233998350 | p.Ala4Pro | missense variant | - | NC_000017.11:g.82051757C>G | TOPMed |
rs560366083 | p.Ala4Val | missense variant | - | NC_000017.11:g.82051756G>A | 1000Genomes |
rs1180531087 | p.Arg5Leu | missense variant | - | NC_000017.11:g.82051753C>A | TOPMed |
rs1481890738 | p.Arg5Gly | missense variant | - | NC_000017.11:g.82051754G>C | TOPMed |
rs1402999980 | p.Leu8Pro | missense variant | - | NC_000017.11:g.82051744A>G | TOPMed,gnomAD |
rs1419505389 | p.Leu15Met | missense variant | - | NC_000017.11:g.82051724G>T | TOPMed |
rs1258024273 | p.Ala17Val | missense variant | - | NC_000017.11:g.82051717G>A | gnomAD |
rs1463630374 | p.Ala17Thr | missense variant | - | NC_000017.11:g.82051718C>T | TOPMed |
rs1214392814 | p.Ala18Val | missense variant | - | NC_000017.11:g.82051714G>A | gnomAD |
rs1271435966 | p.Leu19Arg | missense variant | - | NC_000017.11:g.82051711A>C | gnomAD |
rs1337114104 | p.Leu19Met | missense variant | - | NC_000017.11:g.82051712G>T | gnomAD |
rs1475750646 | p.Ala21Ser | missense variant | - | NC_000017.11:g.82051706C>A | TOPMed,gnomAD |
rs913438528 | p.Ala21Val | missense variant | - | NC_000017.11:g.82051705G>A | TOPMed |
rs1475750646 | p.Ala21Thr | missense variant | - | NC_000017.11:g.82051706C>T | TOPMed,gnomAD |
rs988937753 | p.Leu22Pro | missense variant | - | NC_000017.11:g.82051702A>G | TOPMed |
rs1244335832 | p.Pro26Ser | missense variant | - | NC_000017.11:g.82051691G>A | gnomAD |
rs1307417817 | p.Pro28Ser | missense variant | - | NC_000017.11:g.82051685G>A | gnomAD |
rs1208638254 | p.Ala32Val | missense variant | - | NC_000017.11:g.82051672G>A | TOPMed |
rs985878626 | p.Pro35Ser | missense variant | - | NC_000017.11:g.82051664G>A | TOPMed,gnomAD |
rs1190461255 | p.Pro35Leu | missense variant | - | NC_000017.11:g.82051663G>A | TOPMed |
rs985878626 | p.Pro35Ala | missense variant | - | NC_000017.11:g.82051664G>C | TOPMed,gnomAD |
rs996545970 | p.Thr38Pro | missense variant | - | NC_000017.11:g.82051655T>G | TOPMed |
rs1216387246 | p.Pro39Ser | missense variant | - | NC_000017.11:g.82051652G>A | TOPMed,gnomAD |
rs1411088799 | p.Ala40Thr | missense variant | - | NC_000017.11:g.82051649C>T | TOPMed |
rs954047714 | p.Pro41Ala | missense variant | - | NC_000017.11:g.82051646G>C | TOPMed,gnomAD |
rs1338785069 | p.Pro43Arg | missense variant | - | NC_000017.11:g.82051639G>C | TOPMed |
rs1435137340 | p.Pro43Thr | missense variant | - | NC_000017.11:g.82051640G>T | TOPMed |
rs1399620433 | p.Ala45Pro | missense variant | - | NC_000017.11:g.82051634C>G | TOPMed |
rs1282102564 | p.Ser48Ala | missense variant | - | NC_000017.11:g.82051625A>C | TOPMed,gnomAD |
rs1207827870 | p.Arg49Trp | missense variant | - | NC_000017.11:g.82051622G>A | TOPMed,gnomAD |
rs1162300435 | p.Pro50Leu | missense variant | - | NC_000017.11:g.82051618G>A | gnomAD |
rs1217495836 | p.Pro50Ala | missense variant | - | NC_000017.11:g.82051619G>C | TOPMed |
rs1278573828 | p.Ala51Pro | missense variant | - | NC_000017.11:g.82051616C>G | TOPMed |
rs1364064587 | p.Ala52Val | missense variant | - | NC_000017.11:g.82051612G>A | TOPMed,gnomAD |
rs767872701 | p.Ser54Gly | missense variant | - | NC_000017.11:g.82051607T>C | ExAC,gnomAD |
rs767872701 | p.Ser54Cys | missense variant | - | NC_000017.11:g.82051607T>A | ExAC,gnomAD |
rs1469825762 | p.Leu55Pro | missense variant | - | NC_000017.11:g.82051603A>G | gnomAD |
rs1209371800 | p.Arg56Gln | missense variant | - | NC_000017.11:g.82051600C>T | TOPMed,gnomAD |
rs1251246898 | p.Arg56Trp | missense variant | - | NC_000017.11:g.82051601G>A | TOPMed,gnomAD |
rs1188909073 | p.Pro57Leu | missense variant | - | NC_000017.11:g.82051597G>A | TOPMed |
rs1015473605 | p.Asp58Glu | missense variant | - | NC_000017.11:g.82051593G>C | TOPMed,gnomAD |
rs749521395 | p.Asp59Gly | missense variant | - | NC_000017.11:g.82051591T>C | ExAC,TOPMed,gnomAD |
rs1240906984 | p.Asp59Asn | missense variant | - | NC_000017.11:g.82051592C>T | TOPMed,gnomAD |
rs1240906984 | p.Asp59Tyr | missense variant | - | NC_000017.11:g.82051592C>A | TOPMed,gnomAD |
rs1308358715 | p.Val60Ile | missense variant | - | NC_000017.11:g.82051589C>T | gnomAD |
rs1372480558 | p.Ile62Thr | missense variant | - | NC_000017.11:g.82051582A>G | gnomAD |
rs1385771186 | p.Ala63Thr | missense variant | - | NC_000017.11:g.82051580C>T | gnomAD |
rs1302731434 | p.Thr67Ser | missense variant | - | NC_000017.11:g.82051567G>C | TOPMed |
rs745892405 | p.Arg68Trp | missense variant | - | NC_000017.11:g.82051565G>A | ExAC,TOPMed,gnomAD |
rs1380077887 | p.Asn70Ser | missense variant | - | NC_000017.11:g.82051558T>C | gnomAD |
rs757117555 | p.Gly72Ala | missense variant | - | NC_000017.11:g.82051552C>G | ExAC,TOPMed,gnomAD |
rs1393851694 | p.Gly72Arg | missense variant | - | NC_000017.11:g.82051553C>T | TOPMed,gnomAD |
rs1448340494 | p.Pro73Leu | missense variant | - | NC_000017.11:g.82051549G>A | TOPMed |
rs1447717174 | p.Pro73Ser | missense variant | - | NC_000017.11:g.82051550G>A | TOPMed,gnomAD |
rs747023686 | p.Arg74Cys | missense variant | - | NC_000017.11:g.82051547G>A | ExAC,gnomAD |
rs1285072186 | p.Arg76Gln | missense variant | - | NC_000017.11:g.82051540C>T | gnomAD |
rs1273072952 | p.Arg80Cys | missense variant | - | NC_000017.11:g.82051529G>A | TOPMed,gnomAD |
rs1468915003 | p.Arg80His | missense variant | - | NC_000017.11:g.82051528C>T | TOPMed |
rs1273072952 | p.Arg80Ser | missense variant | - | NC_000017.11:g.82051529G>T | TOPMed,gnomAD |
rs1297190275 | p.Trp82Ter | stop gained | - | NC_000017.11:g.82051521C>T | gnomAD |
rs1297190275 | p.Trp82Cys | missense variant | - | NC_000017.11:g.82051521C>G | gnomAD |
rs1469464173 | p.Ser84Phe | missense variant | - | NC_000017.11:g.82051516G>A | TOPMed |
rs758121697 | p.Ala86Ser | missense variant | - | NC_000017.11:g.82051511C>A | ExAC,gnomAD |
rs1437045911 | p.Gln89Ter | stop gained | - | NC_000017.11:g.82051502G>A | gnomAD |
rs1015650188 | p.Phe91Tyr | missense variant | - | NC_000017.11:g.82051338A>T | TOPMed,gnomAD |
rs1186686376 | p.Ile92Met | missense variant | - | NC_000017.11:g.82051334G>C | gnomAD |
rs1438298807 | p.Phe93Leu | missense variant | - | NC_000017.11:g.82051333A>G | gnomAD |
rs1227459014 | p.Thr94Ser | missense variant | - | NC_000017.11:g.82051329G>C | TOPMed |
rs1196198067 | p.Asp95Asn | missense variant | - | NC_000017.11:g.82051327C>T | gnomAD |
rs776558955 | p.Gly96Glu | missense variant | - | NC_000017.11:g.82051323C>T | ExAC,TOPMed,gnomAD |
rs1486815513 | p.Asp97Gly | missense variant | - | NC_000017.11:g.82051320T>C | TOPMed |
rs1324349986 | p.Asp98Asn | missense variant | - | NC_000017.11:g.82051318C>T | gnomAD |
rs777629635 | p.Pro99Ser | missense variant | - | NC_000017.11:g.82051315G>A | ExAC,gnomAD |
rs777629635 | p.Pro99Ala | missense variant | - | NC_000017.11:g.82051315G>C | ExAC,gnomAD |
rs778721960 | p.Glu102Asp | missense variant | - | NC_000017.11:g.82051304C>G | ExAC,gnomAD |
rs1001889356 | p.Glu102Gln | missense variant | - | NC_000017.11:g.82051306C>G | TOPMed,gnomAD |
rs1001889356 | p.Glu102Lys | missense variant | - | NC_000017.11:g.82051306C>T | TOPMed,gnomAD |
rs1376480637 | p.Glu102Ala | missense variant | - | NC_000017.11:g.82051305T>G | TOPMed |
rs1301910322 | p.Gly106Asp | missense variant | - | NC_000017.11:g.82050764C>T | TOPMed,gnomAD |
rs200724330 | p.Gly106Ser | missense variant | - | NC_000017.11:g.82051294C>T | ESP,ExAC,TOPMed,gnomAD |
rs1186692949 | p.Asp107Asn | missense variant | - | NC_000017.11:g.82050762C>T | gnomAD |
rs1186692949 | p.Asp107His | missense variant | - | NC_000017.11:g.82050762C>G | gnomAD |
rs766603555 | p.Asp107Glu | missense variant | - | NC_000017.11:g.82050760G>C | ExAC,TOPMed,gnomAD |
rs756341641 | p.Arg108Leu | missense variant | - | NC_000017.11:g.82050758C>A | ExAC,TOPMed,gnomAD |
rs756341641 | p.Arg108Pro | missense variant | - | NC_000017.11:g.82050758C>G | ExAC,TOPMed,gnomAD |
rs756341641 | p.Arg108His | missense variant | - | NC_000017.11:g.82050758C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Val109Ile | missense variant | - | NC_000017.11:g.82050756C>T | NCI-TCGA |
rs750576013 | p.Ile110Val | missense variant | - | NC_000017.11:g.82050753T>C | ExAC,gnomAD |
rs1228490734 | p.Asn113Ser | missense variant | - | NC_000017.11:g.82050743T>C | TOPMed |
rs542353354 | p.Ala116Ser | missense variant | - | NC_000017.11:g.82050735C>A | 1000Genomes,ExAC,gnomAD |
rs761935342 | p.Ala116Val | missense variant | - | NC_000017.11:g.82050734G>A | ExAC,TOPMed,gnomAD |
rs146133084 | p.Val117Met | missense variant | - | NC_000017.11:g.82050732C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs762755184 | p.Arg118His | missense variant | - | NC_000017.11:g.82050728C>T | ExAC,TOPMed,gnomAD |
rs761938920 | p.Arg118Cys | missense variant | - | NC_000017.11:g.82050729G>A | ExAC,TOPMed,gnomAD |
rs1464499396 | p.Thr119Ser | missense variant | - | NC_000017.11:g.82050725G>C | TOPMed,gnomAD |
rs1464499396 | p.Thr119Ile | missense variant | - | NC_000017.11:g.82050725G>A | TOPMed,gnomAD |
rs1170495071 | p.Arg120His | missense variant | - | NC_000017.11:g.82050722C>T | gnomAD |
rs769649627 | p.Arg120Cys | missense variant | - | NC_000017.11:g.82050723G>A | ExAC,TOPMed,gnomAD |
rs1466791581 | p.Gln121Ter | stop gained | - | NC_000017.11:g.82050720G>A | gnomAD |
rs1190575655 | p.Ala122Val | missense variant | - | NC_000017.11:g.82050716G>A | TOPMed |
rs1192489412 | p.Leu123Phe | missense variant | - | NC_000017.11:g.82050714G>A | gnomAD |
rs1453963563 | p.Cys124Tyr | missense variant | - | NC_000017.11:g.82050710C>T | TOPMed |
rs368526938 | p.Cys125Tyr | missense variant | - | NC_000017.11:g.82050707C>T | ESP,ExAC,TOPMed,gnomAD |
rs777107462 | p.Met127Thr | missense variant | - | NC_000017.11:g.82050701A>G | ExAC,gnomAD |
rs769227376 | p.Met127Ile | missense variant | - | NC_000017.11:g.82050700C>T | ExAC,gnomAD |
rs148620643 | p.Ser128Ala | missense variant | - | NC_000017.11:g.82050699A>C | ESP,ExAC,TOPMed,gnomAD |
rs1316161607 | p.Val129Leu | missense variant | - | NC_000017.11:g.82050696C>G | gnomAD |
rs750770009 | p.Glu130Ala | missense variant | - | NC_000017.11:g.82050692T>G | ExAC,gnomAD |
rs756535894 | p.Glu130Ter | stop gained | - | NC_000017.11:g.82050693C>A | ExAC,TOPMed,gnomAD |
rs756535894 | p.Glu130Lys | missense variant | - | NC_000017.11:g.82050693C>T | ExAC,TOPMed,gnomAD |
rs750770009 | p.Glu130Gly | missense variant | - | NC_000017.11:g.82050692T>C | ExAC,gnomAD |
COSM4828897 | p.Asp132Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.82050687C>T | NCI-TCGA Cosmic |
rs764025962 | p.Ile135Leu | missense variant | - | NC_000017.11:g.82050678T>G | ExAC,gnomAD |
rs1298735833 | p.Gly138Arg | missense variant | - | NC_000017.11:g.82050669C>T | TOPMed,gnomAD |
rs1298735833 | p.Gly138Arg | missense variant | - | NC_000017.11:g.82050669C>G | TOPMed,gnomAD |
rs1169457660 | p.Arg139His | missense variant | - | NC_000017.11:g.82050665C>T | gnomAD |
rs1169457660 | p.Arg139Leu | missense variant | - | NC_000017.11:g.82050665C>A | gnomAD |
rs931541025 | p.Arg139Cys | missense variant | - | NC_000017.11:g.82050666G>A | gnomAD |
rs931541025 | p.Arg139Ser | missense variant | - | NC_000017.11:g.82050666G>T | gnomAD |
rs887192632 | p.Trp141Ter | stop gained | - | NC_000017.11:g.82050552C>T | TOPMed |
rs1360433612 | p.His144Tyr | missense variant | - | NC_000017.11:g.82050545G>A | gnomAD |
rs1467589494 | p.Val145Met | missense variant | - | NC_000017.11:g.82050542C>T | gnomAD |
rs1198312278 | p.Asp147Tyr | missense variant | - | NC_000017.11:g.82050536C>A | gnomAD |
rs1301001479 | p.Asp147Gly | missense variant | - | NC_000017.11:g.82050535T>C | gnomAD |
rs1229436243 | p.Val151Met | missense variant | - | NC_000017.11:g.82050524C>T | TOPMed |
rs112510774 | p.Asn152Lys | missense variant | - | NC_000017.11:g.82050519G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs202206613 | p.Ala153Ser | missense variant | - | NC_000017.11:g.82050518C>A | ExAC,TOPMed,gnomAD |
rs202206613 | p.Ala153Thr | missense variant | - | NC_000017.11:g.82050518C>T | ExAC,TOPMed,gnomAD |
rs767113527 | p.Ala153Val | missense variant | - | NC_000017.11:g.82050517G>A | ExAC,gnomAD |
rs202206613 | p.Ala153Pro | missense variant | - | NC_000017.11:g.82050518C>G | ExAC,TOPMed,gnomAD |
rs762449053 | p.Arg154Lys | missense variant | - | NC_000017.11:g.82050514C>T | ExAC,TOPMed,gnomAD |
rs763532196 | p.Arg154Gly | missense variant | - | NC_000017.11:g.82050515T>C | ExAC,TOPMed,gnomAD |
rs762449053 | p.Arg154Thr | missense variant | - | NC_000017.11:g.82050514C>G | ExAC,TOPMed,gnomAD |
rs771449990 | p.Ser155Arg | missense variant | - | NC_000017.11:g.82050510G>C | ExAC,TOPMed,gnomAD |
rs777184292 | p.Ser155Asn | missense variant | - | NC_000017.11:g.82050511C>T | ExAC,TOPMed,gnomAD |
rs747375805 | p.Leu157Arg | missense variant | - | NC_000017.11:g.82050505A>C | ExAC,TOPMed,gnomAD |
rs200562205 | p.His158Tyr | missense variant | - | NC_000017.11:g.82050503G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1390390090 | p.His158Arg | missense variant | - | NC_000017.11:g.82050502T>C | TOPMed |
NCI-TCGA novel | p.Leu160Pro | missense variant | - | NC_000017.11:g.82050496A>G | NCI-TCGA |
rs748322743 | p.Leu160Phe | missense variant | - | NC_000017.11:g.82050497G>A | ExAC,gnomAD |
rs755173803 | p.Ser162Gly | missense variant | - | NC_000017.11:g.82050491T>C | ExAC,gnomAD |
rs1425984583 | p.Ser162Thr | missense variant | - | NC_000017.11:g.82050490C>G | gnomAD |
rs377391019 | p.Phe163Leu | missense variant | - | NC_000017.11:g.82050486G>C | ESP,ExAC,TOPMed,gnomAD |
rs750212566 | p.Pro165Ser | missense variant | - | NC_000017.11:g.82050482G>A | ExAC,gnomAD |
rs751283445 | p.Ser166Arg | missense variant | - | NC_000017.11:g.82050479T>G | ExAC,gnomAD |
rs751283445 | p.Ser166Gly | missense variant | - | NC_000017.11:g.82050479T>C | ExAC,gnomAD |
rs1263039126 | p.Asp168Asn | missense variant | - | NC_000017.11:g.82050473C>T | gnomAD |
rs372993379 | p.Val169Phe | missense variant | - | NC_000017.11:g.82050470C>A | ESP,ExAC,TOPMed,gnomAD |
rs372993379 | p.Val169Ile | missense variant | - | NC_000017.11:g.82050470C>T | ESP,ExAC,TOPMed,gnomAD |
rs1216444133 | p.Tyr170His | missense variant | - | NC_000017.11:g.82050467A>G | gnomAD |
rs762263833 | p.Arg173Gln | missense variant | - | NC_000017.11:g.82050457C>T | ExAC,TOPMed,gnomAD |
rs564843474 | p.Arg173Trp | missense variant | - | NC_000017.11:g.82050458G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1334105403 | p.Pro174Ser | missense variant | - | NC_000017.11:g.82050455G>A | gnomAD |
rs1334105403 | p.Pro174Thr | missense variant | - | NC_000017.11:g.82050455G>T | gnomAD |
rs1248151294 | p.Pro174Leu | missense variant | - | NC_000017.11:g.82050454G>A | TOPMed |
rs112436072 | p.Ser175Arg | missense variant | - | NC_000017.11:g.82050450G>C | gnomAD |
rs768976736 | p.Ser175Gly | missense variant | - | NC_000017.11:g.82050452T>C | ExAC,gnomAD |
rs749417094 | p.Asp177His | missense variant | - | NC_000017.11:g.82050446C>G | ExAC,gnomAD |
rs780139221 | p.Asp177Glu | missense variant | - | NC_000017.11:g.82050444G>T | ExAC,gnomAD |
rs1178773217 | p.Ile180Thr | missense variant | - | NC_000017.11:g.82050436A>G | TOPMed |
rs1435072417 | p.Glu181Lys | missense variant | - | NC_000017.11:g.82050434C>T | TOPMed |
rs757105853 | p.Ala182Val | missense variant | - | NC_000017.11:g.82050430G>A | ExAC,TOPMed,gnomAD |
rs1186755783 | p.Ala182Thr | missense variant | - | NC_000017.11:g.82050431C>T | TOPMed,gnomAD |
rs751336435 | p.Thr183Ala | missense variant | - | NC_000017.11:g.82050428T>C | ExAC,gnomAD |
rs777445595 | p.Thr183Ile | missense variant | - | NC_000017.11:g.82050427G>A | ExAC,gnomAD |
rs370119266 | p.Glu184Gln | missense variant | - | NC_000017.11:g.82050425C>G | ESP,ExAC,TOPMed,gnomAD |
rs370119266 | p.Glu184Lys | missense variant | - | NC_000017.11:g.82050425C>T | ESP,ExAC,TOPMed,gnomAD |
rs1354698492 | p.Val186Phe | missense variant | - | NC_000017.11:g.82050419C>A | gnomAD |
rs1354698492 | p.Val186Ile | missense variant | - | NC_000017.11:g.82050419C>T | gnomAD |
rs761090207 | p.Gln187Ter | stop gained | - | NC_000017.11:g.82050416G>A | ExAC,TOPMed,gnomAD |
rs1241537000 | p.Gln187Arg | missense variant | - | NC_000017.11:g.82050415T>C | gnomAD |
NCI-TCGA novel | p.Gln187His | missense variant | - | NC_000017.11:g.82050414C>A | NCI-TCGA |
rs751005205 | p.Gly188Ser | missense variant | - | NC_000017.11:g.82050413C>T | ExAC,gnomAD |
rs1446214395 | p.Arg190Lys | missense variant | - | NC_000017.11:g.82050406C>T | gnomAD |
rs375758380 | p.Thr191Ile | missense variant | - | NC_000017.11:g.82050403G>A | ESP,ExAC,TOPMed,gnomAD |
rs778468309 | p.Val192Met | missense variant | - | NC_000017.11:g.82050006C>T | ExAC |
rs753131665 | p.Thr194Met | missense variant | - | NC_000017.11:g.82049999G>A | ExAC,TOPMed,gnomAD |
rs755235445 | p.Val195Ile | missense variant | - | NC_000017.11:g.82049997C>T | ExAC,gnomAD |
rs147282261 | p.Lys196Asn | missense variant | - | NC_000017.11:g.82049992C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs767519998 | p.Trp198Ter | stop gained | - | NC_000017.11:g.82049986C>T | ExAC,gnomAD |
rs1340261964 | p.Trp198Ser | missense variant | - | NC_000017.11:g.82049987C>G | TOPMed |
rs761603203 | p.Phe199Leu | missense variant | - | NC_000017.11:g.82049985A>G | ExAC,gnomAD |
rs1466842745 | p.Phe199Tyr | missense variant | - | NC_000017.11:g.82049984A>T | gnomAD |
rs1450256074 | p.Ala200Gly | missense variant | - | NC_000017.11:g.82049981G>C | TOPMed,gnomAD |
rs774207300 | p.Thr201Ile | missense variant | - | NC_000017.11:g.82049978G>A | ExAC,gnomAD |
rs1424772863 | p.Gly202Asp | missense variant | - | NC_000017.11:g.82049975C>T | TOPMed,gnomAD |
rs1482917544 | p.Gly205Arg | missense variant | - | NC_000017.11:g.82049967C>T | TOPMed |
rs769544939 | p.Gly205Glu | missense variant | - | NC_000017.11:g.82049966C>T | ExAC,TOPMed,gnomAD |
rs201812335 | p.Cys207Ser | missense variant | - | NC_000017.11:g.82049960C>G | ESP,ExAC,TOPMed,gnomAD |
rs201812335 | p.Cys207Tyr | missense variant | - | NC_000017.11:g.82049960C>T | ESP,ExAC,TOPMed,gnomAD |
rs1251022459 | p.Leu208His | missense variant | - | NC_000017.11:g.82049957A>T | gnomAD |
rs779473081 | p.Ser209Arg | missense variant | - | NC_000017.11:g.82049953G>C | ExAC,gnomAD |
rs1411996467 | p.Ser209Ile | missense variant | - | NC_000017.11:g.82049954C>A | TOPMed |
rs755357276 | p.Arg210Gly | missense variant | - | NC_000017.11:g.82049952T>C | ExAC,gnomAD |
rs754177910 | p.Gly211Asp | missense variant | - | NC_000017.11:g.82049948C>T | ExAC,TOPMed,gnomAD |
rs754177910 | p.Gly211Val | missense variant | - | NC_000017.11:g.82049948C>A | ExAC,TOPMed,gnomAD |
rs767226162 | p.Leu212Phe | missense variant | - | NC_000017.11:g.82049946G>A | gnomAD |
NCI-TCGA novel | p.Ala213Val | missense variant | - | NC_000017.11:g.82049942G>A | NCI-TCGA |
rs767434700 | p.Leu214Phe | missense variant | - | NC_000017.11:g.82049940G>A | ExAC,gnomAD |
rs761810901 | p.Lys215Glu | missense variant | - | NC_000017.11:g.82049937T>C | ExAC,gnomAD |
rs751515518 | p.Ser217Arg | missense variant | - | NC_000017.11:g.82049929G>C | ExAC,gnomAD |
rs1044444069 | p.Pro218Leu | missense variant | - | NC_000017.11:g.82049927G>A | TOPMed,gnomAD |
rs1304617958 | p.Pro218Thr | missense variant | - | NC_000017.11:g.82049928G>T | TOPMed |
rs1444533773 | p.Trp219Gly | missense variant | - | NC_000017.11:g.82049925A>C | gnomAD |
rs1381552424 | p.Trp219Ter | stop gained | - | NC_000017.11:g.82049923C>T | gnomAD |
rs764075934 | p.Ala220Thr | missense variant | - | NC_000017.11:g.82049922C>T | ExAC,gnomAD |
rs757464403 | p.Gly223Ser | missense variant | - | NC_000017.11:g.82049838C>T | ExAC,gnomAD |
rs1376068755 | p.Met226Val | missense variant | - | NC_000017.11:g.82049829T>C | gnomAD |
rs1176019611 | p.Ser227Asn | missense variant | - | NC_000017.11:g.82049825C>T | gnomAD |
rs1017363835 | p.Glu230Lys | missense variant | - | NC_000017.11:g.82049817C>T | TOPMed,gnomAD |
rs1195631810 | p.Gln231Ter | stop gained | - | NC_000017.11:g.82049814G>A | gnomAD |
rs1202124625 | p.Val232Met | missense variant | - | NC_000017.11:g.82049811C>T | TOPMed |
rs758418861 | p.Arg233Gln | missense variant | - | NC_000017.11:g.82049807C>T | ExAC,gnomAD |
rs534584318 | p.Arg233Trp | missense variant | - | NC_000017.11:g.82049808G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs752750346 | p.Pro235Ala | missense variant | - | NC_000017.11:g.82049802G>C | ExAC,gnomAD |
rs765253576 | p.Pro235Leu | missense variant | - | NC_000017.11:g.82049801G>A | ExAC,TOPMed,gnomAD |
rs1222545975 | p.Asp237Glu | missense variant | - | NC_000017.11:g.82049794G>C | gnomAD |
NCI-TCGA novel | p.Asp237Asn | missense variant | - | NC_000017.11:g.82049796C>T | NCI-TCGA |
rs753639592 | p.Thr239Ala | missense variant | - | NC_000017.11:g.82049790T>C | ExAC,TOPMed,gnomAD |
rs1225778807 | p.Tyr242Cys | missense variant | - | NC_000017.11:g.82049780T>C | gnomAD |
rs1326343841 | p.Ile243Val | missense variant | - | NC_000017.11:g.82049778T>C | gnomAD |
rs765977318 | p.Val244Met | missense variant | - | NC_000017.11:g.82049775C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu245Val | missense variant | - | NC_000017.11:g.82049771T>A | NCI-TCGA |
rs899061044 | p.Leu248Pro | missense variant | - | NC_000017.11:g.82049762A>G | gnomAD |
rs761303825 | p.Gly249Asp | missense variant | - | NC_000017.11:g.82049759C>T | ExAC,gnomAD |
rs770261294 | p.Ala250Thr | missense variant | - | NC_000017.11:g.82049757C>T | ExAC,TOPMed,gnomAD |
rs1424987754 | p.Ala250Val | missense variant | - | NC_000017.11:g.82049756G>A | gnomAD |
rs771075644 | p.Arg251Cys | missense variant | - | NC_000017.11:g.82049754G>A | ExAC,gnomAD |
rs747191255 | p.Arg251His | missense variant | - | NC_000017.11:g.82049753C>T | ExAC,TOPMed,gnomAD |
rs771075644 | p.Arg251Ser | missense variant | - | NC_000017.11:g.82049754G>T | ExAC,gnomAD |
rs1239545201 | p.His254Arg | missense variant | - | NC_000017.11:g.82049744T>C | gnomAD |
rs1339173511 | p.Pro256Leu | missense variant | - | NC_000017.11:g.82049738G>A | gnomAD |
rs772335800 | p.Pro256Ser | missense variant | - | NC_000017.11:g.82049739G>A | ExAC,TOPMed,gnomAD |
rs1247601504 | p.Leu257His | missense variant | - | NC_000017.11:g.82049735A>T | gnomAD |
NCI-TCGA novel | p.Leu257Ile | missense variant | - | NC_000017.11:g.82049736G>T | NCI-TCGA |
rs1225153063 | p.Phe258Leu | missense variant | - | NC_000017.11:g.82049733A>G | TOPMed |
rs1250112433 | p.His259Asn | missense variant | - | NC_000017.11:g.82049730G>T | TOPMed |
rs1012968896 | p.His261Gln | missense variant | - | NC_000017.11:g.82049722G>C | TOPMed,gnomAD |
rs368469722 | p.Arg267Lys | missense variant | - | NC_000017.11:g.82049705C>T | ESP,ExAC,TOPMed,gnomAD |
rs1383377005 | p.Pro269Leu | missense variant | - | NC_000017.11:g.82049699G>A | TOPMed,gnomAD |
rs1426835718 | p.Pro270Leu | missense variant | - | NC_000017.11:g.82049696G>A | TOPMed |
rs1239545635 | p.Asp271Asn | missense variant | - | NC_000017.11:g.82049694C>T | gnomAD |
rs370979534 | p.Thr278Ile | missense variant | - | NC_000017.11:g.82049112G>A | ESP,ExAC,TOPMed,gnomAD |
rs750384196 | p.Thr278Ala | missense variant | - | NC_000017.11:g.82049113T>C | ExAC,TOPMed,gnomAD |
rs1243956307 | p.His281Tyr | missense variant | - | NC_000017.11:g.82049104G>A | TOPMed |
rs1425036581 | p.His281Arg | missense variant | - | NC_000017.11:g.82049103T>C | gnomAD |
rs1187640863 | p.Gly283Ser | missense variant | - | NC_000017.11:g.82049098C>T | gnomAD |
rs774244196 | p.Pro284Ser | missense variant | - | NC_000017.11:g.82049095G>A | ExAC,gnomAD |
rs762633441 | p.Glu285Gln | missense variant | - | NC_000017.11:g.82049092C>G | ExAC,TOPMed |
rs762633441 | p.Glu285Ter | stop gained | - | NC_000017.11:g.82049092C>A | ExAC,TOPMed |
rs775279163 | p.Asn286Lys | missense variant | - | NC_000017.11:g.82049087G>C | ExAC,TOPMed,gnomAD |
rs143662745 | p.Pro287Ala | missense variant | - | NC_000017.11:g.82049086G>C | ESP,ExAC,TOPMed,gnomAD |
rs143662745 | p.Pro287Ser | missense variant | - | NC_000017.11:g.82049086G>A | ESP,ExAC,TOPMed,gnomAD |
rs1265250180 | p.Pro287Arg | missense variant | - | NC_000017.11:g.82049085G>C | gnomAD |
rs74659471 | p.His288Arg | missense variant | - | NC_000017.11:g.82049082T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs12948507 | p.His288Gln | missense variant | - | NC_000017.11:g.82049081A>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs12948507 | p.His288Gln | missense variant | - | NC_000017.11:g.82049081A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs201463115 | p.Val290Met | missense variant | - | NC_000017.11:g.82049077C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1267878963 | p.Val291Gly | missense variant | - | NC_000017.11:g.82049073A>C | TOPMed,gnomAD |
rs1364073477 | p.Val291Met | missense variant | - | NC_000017.11:g.82049074C>T | TOPMed,gnomAD |
rs377490634 | p.Val293Leu | missense variant | - | NC_000017.11:g.82049068C>G | ESP,TOPMed,gnomAD |
rs377490634 | p.Val293Met | missense variant | - | NC_000017.11:g.82049068C>T | ESP,TOPMed,gnomAD |
rs755199513 | p.Ala294Val | missense variant | - | NC_000017.11:g.82049064G>A | ExAC,TOPMed |
rs373836166 | p.Ala294Thr | missense variant | - | NC_000017.11:g.82049065C>T | ESP |
rs755199513 | p.Ala294Gly | missense variant | - | NC_000017.11:g.82049064G>C | ExAC,TOPMed |
rs1338333976 | p.Gly295Glu | missense variant | - | NC_000017.11:g.82049061C>T | gnomAD |
rs749577038 | p.Gly296Asp | missense variant | - | NC_000017.11:g.82049058C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Gly296Ser | missense variant | - | NC_000017.11:g.82049059C>T | NCI-TCGA |
rs1322101427 | p.Phe297Val | missense variant | - | NC_000017.11:g.82049056A>C | TOPMed |
rs750480756 | p.Ser298Arg | missense variant | - | NC_000017.11:g.82049051G>C | ExAC,TOPMed,gnomAD |
rs1418062884 | p.Leu299Val | missense variant | - | NC_000017.11:g.82049050G>C | gnomAD |
rs143745130 | p.His300Pro | missense variant | - | NC_000017.11:g.82049046T>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs751411901 | p.His300Tyr | missense variant | - | NC_000017.11:g.82049047G>A | ExAC,TOPMed,gnomAD |
rs762830482 | p.Gln301Ter | stop gained | - | NC_000017.11:g.82049044G>A | ExAC,gnomAD |
rs145447246 | p.Asp302Glu | missense variant | - | NC_000017.11:g.82049039G>T | ESP,ExAC,TOPMed,gnomAD |
rs1483070373 | p.Asp302Val | missense variant | - | NC_000017.11:g.82049040T>A | gnomAD |
rs997941687 | p.Pro303Leu | missense variant | - | NC_000017.11:g.82049037G>A | gnomAD |
rs997941687 | p.Pro303His | missense variant | - | NC_000017.11:g.82049037G>T | gnomAD |
rs1205025770 | p.Thr304Ala | missense variant | - | NC_000017.11:g.82049035T>C | gnomAD |
rs138202141 | p.Arg305Trp | missense variant | - | NC_000017.11:g.82049032G>A | ESP,ExAC,TOPMed,gnomAD |
rs1027817427 | p.Arg305Gln | missense variant | - | NC_000017.11:g.82049031C>T | TOPMed,gnomAD |
rs1027817427 | p.Arg305Leu | missense variant | - | NC_000017.11:g.82049031C>A | TOPMed,gnomAD |
rs771239830 | p.Ile309Leu | missense variant | - | NC_000017.11:g.82048797T>G | ExAC,TOPMed,gnomAD |
rs1310473479 | p.Ile309Asn | missense variant | - | NC_000017.11:g.82048796A>T | TOPMed,gnomAD |
rs771239830 | p.Ile309Val | missense variant | - | NC_000017.11:g.82048797T>C | ExAC,TOPMed,gnomAD |
rs1470129785 | p.His310Tyr | missense variant | - | NC_000017.11:g.82048794G>A | gnomAD |
rs755250241 | p.Leu312Phe | missense variant | - | NC_000017.11:g.82048788G>A | TOPMed,gnomAD |
rs777945991 | p.Pro315Ser | missense variant | - | NC_000017.11:g.82048779G>A | ExAC,TOPMed,gnomAD |
rs777945991 | p.Pro315Ala | missense variant | - | NC_000017.11:g.82048779G>C | ExAC,TOPMed,gnomAD |
rs1314828121 | p.Pro315Gln | missense variant | - | NC_000017.11:g.82048778G>T | TOPMed |
rs1451887978 | p.Asp316His | missense variant | - | NC_000017.11:g.82048776C>G | TOPMed,gnomAD |
rs778704463 | p.Thr317Met | missense variant | - | NC_000017.11:g.82048772G>A | ExAC,TOPMed,gnomAD |
rs778704463 | p.Thr317Arg | missense variant | - | NC_000017.11:g.82048772G>C | ExAC,TOPMed,gnomAD |
rs1187821563 | p.Thr317Ala | missense variant | - | NC_000017.11:g.82048773T>C | gnomAD |
rs1326127269 | p.Trp319Ter | stop gained | - | NC_000017.11:g.82048766C>T | gnomAD |
rs1204661259 | p.Trp319Arg | missense variant | - | NC_000017.11:g.82048767A>T | gnomAD |
rs1437310602 | p.Cys320Tyr | missense variant | - | NC_000017.11:g.82048763C>T | TOPMed |
rs753542213 | p.Pro321Ala | missense variant | - | NC_000017.11:g.82048761G>C | ExAC,TOPMed,gnomAD |
rs1460176868 | p.Arg322Lys | missense variant | - | NC_000017.11:g.82048757C>T | TOPMed |
rs755709933 | p.Gln323Ter | stop gained | - | NC_000017.11:g.82048755G>A | ExAC,gnomAD |
rs1045904695 | p.Gln325Glu | missense variant | - | NC_000017.11:g.82048749G>C | TOPMed,gnomAD |
rs1045904695 | p.Gln325Ter | stop gained | - | NC_000017.11:g.82048749G>A | TOPMed,gnomAD |
rs749948798 | p.Gly326Ser | missense variant | - | NC_000017.11:g.82048746C>T | ExAC,gnomAD |
rs144203478 | p.Ala327Thr | missense variant | - | NC_000017.11:g.82048743C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs367653769 | p.Pro328Leu | missense variant | - | NC_000017.11:g.82048739G>A | ESP,ExAC,TOPMed,gnomAD |
rs1054503623 | p.Thr329Ile | missense variant | - | NC_000017.11:g.82048736G>A | TOPMed |
rs776812647 | p.Arg331Trp | missense variant | - | NC_000017.11:g.82048731G>A | ExAC,TOPMed,gnomAD |
rs766721516 | p.Arg331Gln | missense variant | - | NC_000017.11:g.82048730C>T | ExAC,TOPMed,gnomAD |
rs776812647 | p.Arg331Gly | missense variant | - | NC_000017.11:g.82048731G>C | ExAC,TOPMed,gnomAD |
rs150121399 | p.Ter332Cys | stop lost | - | NC_000017.11:g.82048726T>G | ESP,ExAC,gnomAD |