rs953209238 | p.Glu2Lys | missense variant | - | NC_000010.11:g.22316421G>A | TOPMed,gnomAD |
rs199921951 | p.Glu2Asp | missense variant | - | NC_000010.11:g.22316423G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs953209238 | p.Glu2Gln | missense variant | - | NC_000010.11:g.22316421G>C | TOPMed,gnomAD |
rs1375800217 | p.Leu3His | missense variant | - | NC_000010.11:g.22316425T>A | TOPMed |
rs1244381708 | p.Leu3Val | missense variant | - | NC_000010.11:g.22316424C>G | gnomAD |
NCI-TCGA novel | p.Leu3Phe | missense variant | - | NC_000010.11:g.22316424C>T | NCI-TCGA |
rs1186373447 | p.Ser4Leu | missense variant | - | NC_000010.11:g.22316428C>T | TOPMed,gnomAD |
rs1260094425 | p.Glu5Lys | missense variant | - | NC_000010.11:g.22316430G>A | gnomAD |
rs1175148436 | p.Ser6Phe | missense variant | - | NC_000010.11:g.22316434C>T | gnomAD |
rs1468769835 | p.Ser6Ala | missense variant | - | NC_000010.11:g.22316433T>G | TOPMed,gnomAD |
rs1184565516 | p.Gln8Ter | stop gained | - | NC_000010.11:g.22316439C>T | gnomAD |
rs992434160 | p.Gln8Leu | missense variant | - | NC_000010.11:g.22316440A>T | TOPMed,gnomAD |
rs992434160 | p.Gln8Arg | missense variant | - | NC_000010.11:g.22316440A>G | TOPMed,gnomAD |
rs140818298 | p.Lys9Glu | missense variant | - | NC_000010.11:g.22316442A>G | ESP,ExAC,TOPMed,gnomAD |
rs140818298 | p.Lys9Gln | missense variant | - | NC_000010.11:g.22316442A>C | ESP,ExAC,TOPMed,gnomAD |
rs974038630 | p.Lys9Thr | missense variant | - | NC_000010.11:g.22316443A>C | TOPMed |
rs974038630 | p.Lys9Arg | missense variant | - | NC_000010.11:g.22316443A>G | TOPMed |
rs1346952900 | p.Phe11Val | missense variant | - | NC_000010.11:g.22316448T>G | gnomAD |
rs1431194611 | p.Gln12Arg | missense variant | - | NC_000010.11:g.22316452A>G | gnomAD |
rs1431194611 | p.Gln12Pro | missense variant | - | NC_000010.11:g.22316452A>C | gnomAD |
rs143441354 | p.Met13Ile | missense variant | - | NC_000010.11:g.22316456G>A | ESP,ExAC,TOPMed,gnomAD |
rs143441354 | p.Met13Ile | missense variant | - | NC_000010.11:g.22316456G>T | ESP,ExAC,TOPMed,gnomAD |
rs1446223715 | p.Leu14Val | missense variant | - | NC_000010.11:g.22316457C>G | TOPMed |
rs918637028 | p.Ala15Glu | missense variant | - | NC_000010.11:g.22316461C>A | TOPMed,gnomAD |
rs918637028 | p.Ala15Gly | missense variant | - | NC_000010.11:g.22316461C>G | TOPMed,gnomAD |
rs918637028 | p.Ala15Val | missense variant | - | NC_000010.11:g.22316461C>T | TOPMed,gnomAD |
rs1304500743 | p.Asp16Val | missense variant | - | NC_000010.11:g.22316464A>T | TOPMed,gnomAD |
rs1304500743 | p.Asp16Gly | missense variant | - | NC_000010.11:g.22316464A>G | TOPMed,gnomAD |
rs533527351 | p.Pro17Ser | missense variant | - | NC_000010.11:g.22316466C>T | gnomAD |
rs1411377802 | p.Pro17His | missense variant | - | NC_000010.11:g.22316467C>A | TOPMed |
rs11552445 | p.Arg18Cys | missense variant | - | NC_000010.11:g.22316469C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs11552445 | p.Arg18Gly | missense variant | - | NC_000010.11:g.22316469C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs928896343 | p.Ser19Phe | missense variant | - | NC_000010.11:g.22316473C>T | gnomAD |
rs1470131269 | p.Asp21Ala | missense variant | - | NC_000010.11:g.22316479A>C | TOPMed,gnomAD |
rs373854912 | p.Asn23Ser | missense variant | - | NC_000010.11:g.22316485A>G | ESP,ExAC,TOPMed,gnomAD |
rs749426689 | p.Asn23Asp | missense variant | - | NC_000010.11:g.22316484A>G | ExAC,TOPMed,gnomAD |
rs1189018405 | p.Thr26Lys | missense variant | - | NC_000010.11:g.22316494C>A | gnomAD |
rs1401159675 | p.Leu27Phe | missense variant | - | NC_000010.11:g.22316496C>T | gnomAD |
rs774405221 | p.Leu28Phe | missense variant | - | NC_000010.11:g.22316499C>T | ExAC,gnomAD |
rs901797219 | p.Leu29Phe | missense variant | - | NC_000010.11:g.22316502C>T | TOPMed |
rs140293380 | p.Ala31Val | missense variant | - | NC_000010.11:g.22316509C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs140293380 | p.Ala31Glu | missense variant | - | NC_000010.11:g.22316509C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1370622398 | p.Ala32Thr | missense variant | - | NC_000010.11:g.22316511G>A | gnomAD |
rs1434588346 | p.Phe33Leu | missense variant | - | NC_000010.11:g.22316516C>A | gnomAD |
rs772005875 | p.Ser35Arg | missense variant | - | NC_000010.11:g.22316522T>G | ExAC,gnomAD |
rs773162718 | p.Asp38Ala | missense variant | - | NC_000010.11:g.22316530A>C | ExAC,TOPMed,gnomAD |
rs1374181248 | p.Asp38His | missense variant | - | NC_000010.11:g.22316529G>C | gnomAD |
rs745894179 | p.Ala39Ser | missense variant | - | NC_000010.11:g.22316532G>T | gnomAD |
rs1337377581 | p.Ala41Gly | missense variant | - | NC_000010.11:g.22316539C>G | gnomAD |
rs1436104637 | p.Glu43Lys | missense variant | - | NC_000010.11:g.22316544G>A | gnomAD |
NCI-TCGA novel | p.Ala44Val | missense variant | - | NC_000010.11:g.22316548C>T | NCI-TCGA |
rs1041385737 | p.Val45Met | missense variant | - | NC_000010.11:g.22316550G>A | gnomAD |
rs774889597 | p.Asp47Glu | missense variant | - | NC_000010.11:g.22317885T>A | ExAC,gnomAD |
rs762505507 | p.His48Tyr | missense variant | - | NC_000010.11:g.22317886C>T | ExAC,gnomAD |
rs762505507 | p.His48Asn | missense variant | - | NC_000010.11:g.22317886C>A | ExAC,gnomAD |
rs1303099398 | p.His48Arg | missense variant | - | NC_000010.11:g.22317887A>G | gnomAD |
rs1271566812 | p.Pro49Ser | missense variant | - | NC_000010.11:g.22317889C>T | gnomAD |
rs1339580097 | p.Pro49Arg | missense variant | - | NC_000010.11:g.22317890C>G | TOPMed,gnomAD |
rs750927222 | p.Asp50Gly | missense variant | - | NC_000010.11:g.22317893A>G | ExAC,gnomAD |
rs1271805429 | p.Asp50Glu | missense variant | - | NC_000010.11:g.22317894C>G | gnomAD |
NCI-TCGA novel | p.Asp50Tyr | missense variant | - | NC_000010.11:g.22317892G>T | NCI-TCGA |
rs756531761 | p.His53Leu | missense variant | - | NC_000010.11:g.22317902A>T | ExAC,TOPMed,gnomAD |
rs766744221 | p.Ile54Thr | missense variant | - | NC_000010.11:g.22317905T>C | ExAC,gnomAD |
rs1211463894 | p.Ile54Val | missense variant | - | NC_000010.11:g.22317904A>G | gnomAD |
rs754165911 | p.Asp55Asn | missense variant | - | NC_000010.11:g.22317907G>A | ExAC,gnomAD |
rs755177169 | p.Pro56Ala | missense variant | - | NC_000010.11:g.22317910C>G | ExAC,TOPMed,gnomAD |
COSM4912458 | p.His61Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.22317926A>G | NCI-TCGA Cosmic |
rs748214105 | p.His63Arg | missense variant | - | NC_000010.11:g.22317932A>G | ExAC,gnomAD |
rs758546043 | p.Ala64Val | missense variant | - | NC_000010.11:g.22317935C>T | ExAC,TOPMed,gnomAD |
rs758546043 | p.Ala64Gly | missense variant | - | NC_000010.11:g.22317935C>G | ExAC,TOPMed,gnomAD |
rs1407448055 | p.Ala65Val | missense variant | - | NC_000010.11:g.22317938C>T | TOPMed |
NCI-TCGA novel | p.Ala65GlyPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.22317936_22317937insG | NCI-TCGA |
NCI-TCGA novel | p.Ala66Ser | missense variant | - | NC_000010.11:g.22317940G>T | NCI-TCGA |
rs1417907824 | p.Thr68Ala | missense variant | - | NC_000010.11:g.22317946A>G | TOPMed |
rs1319328716 | p.Tyr69Ser | missense variant | - | NC_000010.11:g.22317950A>C | gnomAD |
rs770921306 | p.Tyr69Ter | stop gained | - | NC_000010.11:g.22317951C>A | ExAC,TOPMed,gnomAD |
rs543113343 | p.Glu72Gln | missense variant | - | NC_000010.11:g.22317958G>C | 1000Genomes,ExAC,gnomAD |
rs559797623 | p.Ala73Val | missense variant | - | NC_000010.11:g.22317962C>T | 1000Genomes,ExAC,gnomAD |
rs763582726 | p.Gly74Glu | missense variant | - | NC_000010.11:g.22317965G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Lys75Asn | missense variant | - | NC_000010.11:g.22317969G>T | NCI-TCGA |
rs773794310 | p.Arg77Gln | missense variant | - | NC_000010.11:g.22317974G>A | ExAC,gnomAD |
rs773794310 | p.Arg77Pro | missense variant | - | NC_000010.11:g.22317974G>C | ExAC,gnomAD |
rs761175014 | p.Asp79Glu | missense variant | - | NC_000010.11:g.22317981C>G | ExAC,gnomAD |
rs1468194413 | p.Asp79Val | missense variant | - | NC_000010.11:g.22317980A>T | TOPMed |
rs1186876088 | p.Asp79Asn | missense variant | - | NC_000010.11:g.22317979G>A | gnomAD |
rs1323318115 | p.Thr82Ile | missense variant | - | NC_000010.11:g.22317989C>T | TOPMed |
rs1454761053 | p.Thr82Ser | missense variant | - | NC_000010.11:g.22317988A>T | gnomAD |
rs1213900981 | p.Ser84Asn | missense variant | - | NC_000010.11:g.22317995G>A | TOPMed |
rs771382008 | p.Ser84Arg | missense variant | - | NC_000010.11:g.22318105C>A | ExAC,TOPMed,gnomAD |
rs1392674501 | p.Thr85Ser | missense variant | - | NC_000010.11:g.22318107C>G | gnomAD |
rs1384269849 | p.Thr85Ala | missense variant | - | NC_000010.11:g.22318106A>G | TOPMed,gnomAD |
rs1297960698 | p.Glu88Gly | missense variant | - | NC_000010.11:g.22318116A>G | TOPMed |
rs759874425 | p.Glu88Gln | missense variant | - | NC_000010.11:g.22318115G>C | ExAC,TOPMed,gnomAD |
rs759874425 | p.Glu88Ter | stop gained | - | NC_000010.11:g.22318115G>T | ExAC,TOPMed,gnomAD |
rs1054972885 | p.Asp89Asn | missense variant | - | NC_000010.11:g.22318118G>A | TOPMed |
rs1263954988 | p.Asp93Gly | missense variant | - | NC_000010.11:g.22318131A>G | gnomAD |
rs1481649082 | p.Glu95Gln | missense variant | - | NC_000010.11:g.22318136G>C | gnomAD |
rs138788733 | p.Arg96Gln | missense variant | - | NC_000010.11:g.22318140G>A | ESP,ExAC,TOPMed,gnomAD |
rs1251174031 | p.Ile97Val | missense variant | - | NC_000010.11:g.22318142A>G | TOPMed,gnomAD |
rs1176350033 | p.Phe100Leu | missense variant | - | NC_000010.11:g.22318153T>A | TOPMed |
rs1483261307 | p.Cys101Ser | missense variant | - | NC_000010.11:g.22318155G>C | TOPMed |
rs1253830480 | p.Cys101Ter | stop gained | - | NC_000010.11:g.22318156C>A | TOPMed |
NCI-TCGA novel | p.Cys101AlaPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.22318151T>- | NCI-TCGA |
rs148962388 | p.Thr102Met | missense variant | - | NC_000010.11:g.22318158C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1258606057 | p.Glu103Lys | missense variant | - | NC_000010.11:g.22318160G>A | gnomAD |
NCI-TCGA novel | p.Glu103Ter | stop gained | - | NC_000010.11:g.22318160G>T | NCI-TCGA |
rs1366421212 | p.Gln105Ter | stop gained | - | NC_000010.11:g.22318166C>T | gnomAD |
rs1361383224 | p.Asn107Lys | missense variant | - | NC_000010.11:g.22318277T>G | TOPMed |
rs750402771 | p.Lys108Asn | missense variant | - | NC_000010.11:g.22318280G>T | ExAC,TOPMed,gnomAD |
rs767650585 | p.Lys108Glu | missense variant | - | NC_000010.11:g.22318278A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Asn109Ser | missense variant | - | NC_000010.11:g.22318282A>G | NCI-TCGA |
rs1166479514 | p.Leu111Pro | missense variant | - | NC_000010.11:g.22318288T>C | TOPMed,gnomAD |
rs369311018 | p.Leu119Pro | missense variant | - | NC_000010.11:g.22318964T>C | ESP,ExAC,TOPMed,gnomAD |
rs1471443185 | p.Pro121Leu | missense variant | - | NC_000010.11:g.22318970C>T | gnomAD |
NCI-TCGA novel | p.Pro121Ser | missense variant | - | NC_000010.11:g.22318969C>T | NCI-TCGA |
rs148388360 | p.His122Tyr | missense variant | - | NC_000010.11:g.22318972C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM3436546 | p.Pro123Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.22318976C>T | NCI-TCGA Cosmic |
rs1318184738 | p.Gln125Glu | missense variant | - | NC_000010.11:g.22318981C>G | gnomAD |
rs1392237487 | p.Arg126Gly | missense variant | - | NC_000010.11:g.22318984A>G | gnomAD |
COSM917037 | p.Leu127Ter | missense variant | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.22318988T>G | NCI-TCGA Cosmic |
rs753348282 | p.Leu129Phe | missense variant | - | NC_000010.11:g.22318995A>C | ExAC,gnomAD |
rs376503129 | p.Val130Ile | missense variant | - | NC_000010.11:g.22318996G>A | ESP,ExAC,TOPMed,gnomAD |
rs370953837 | p.Trp133Cys | missense variant | - | NC_000010.11:g.22319007G>C | ESP,ExAC,TOPMed,gnomAD |
rs370953837 | p.Trp133Ter | stop gained | - | NC_000010.11:g.22319007G>A | ESP,ExAC,TOPMed,gnomAD |
rs757610657 | p.Asn134Lys | missense variant | - | NC_000010.11:g.22319010C>A | ExAC,TOPMed,gnomAD |
rs781453568 | p.Asn135Asp | missense variant | - | NC_000010.11:g.22319011A>G | ExAC,gnomAD |
rs746106385 | p.Tyr136Cys | missense variant | - | NC_000010.11:g.22319015A>G | ExAC,TOPMed,gnomAD |
rs756297695 | p.Arg137Lys | missense variant | - | NC_000010.11:g.22319018G>A | ExAC,gnomAD |
rs777102106 | p.Ile138Thr | missense variant | - | NC_000010.11:g.22326433T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Phe139Leu | missense variant | - | NC_000010.11:g.22326437T>G | NCI-TCGA |
rs759947678 | p.Tyr140His | missense variant | - | NC_000010.11:g.22326438T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Tyr140IlePheSerTerUnkUnk | frameshift | - | NC_000010.11:g.22326433T>- | NCI-TCGA |
rs371061751 | p.Gln141Leu | missense variant | - | NC_000010.11:g.22326442A>T | ESP,ExAC,TOPMed,gnomAD |
rs371061751 | p.Gln141Arg | missense variant | - | NC_000010.11:g.22326442A>G | ESP,ExAC,TOPMed,gnomAD |
rs1289925149 | p.Ala142Val | missense variant | - | NC_000010.11:g.22326445C>T | gnomAD |
rs1361730718 | p.Thr147Ala | missense variant | - | NC_000010.11:g.22326459A>G | TOPMed |
rs1358157329 | p.Thr148Lys | missense variant | - | NC_000010.11:g.22326463C>A | gnomAD |
rs1220132289 | p.Arg149Ile | missense variant | - | NC_000010.11:g.22326466G>T | gnomAD |
rs1299305599 | p.Arg149Ser | missense variant | - | NC_000010.11:g.22326467A>T | TOPMed |
rs763207530 | p.Ile150Met | missense variant | - | NC_000010.11:g.22326470C>G | ExAC,TOPMed,gnomAD |
rs1294694270 | p.Leu155Val | missense variant | - | NC_000010.11:g.22326483C>G | TOPMed,gnomAD |
rs1230983994 | p.Pro157Thr | missense variant | - | NC_000010.11:g.22326489C>A | gnomAD |
rs1042059 | p.Cys161Tyr | missense variant | - | NC_000010.11:g.22326502G>A | - |
rs202133405 | p.Val162Ala | missense variant | - | NC_000010.11:g.22326505T>C | 1000Genomes |
rs750273099 | p.Val162Met | missense variant | - | NC_000010.11:g.22326504G>A | ExAC,gnomAD |
rs1370355215 | p.Leu163Phe | missense variant | - | NC_000010.11:g.22326507C>T | TOPMed |
rs573475997 | p.Ile169Val | missense variant | - | NC_000010.11:g.22326525A>G | 1000Genomes,ExAC,gnomAD |
rs748955471 | p.Ile174Val | missense variant | - | NC_000010.11:g.22326540A>G | ExAC,TOPMed,gnomAD |
rs1361296039 | p.Ile175Val | missense variant | - | NC_000010.11:g.22326543A>G | TOPMed,gnomAD |
rs778504649 | p.Ser180Phe | missense variant | - | NC_000010.11:g.22326559C>T | ExAC,TOPMed,gnomAD |
rs1023927369 | p.Ile186Val | missense variant | - | NC_000010.11:g.22326904A>G | gnomAD |
rs377305365 | p.Arg188Pro | missense variant | - | NC_000010.11:g.22326911G>C | ESP,ExAC,TOPMed,gnomAD |
rs377305365 | p.Arg188His | missense variant | - | NC_000010.11:g.22326911G>A | ESP,ExAC,TOPMed,gnomAD |
rs772060983 | p.Glu191Lys | missense variant | - | NC_000010.11:g.22326919G>A | ExAC,gnomAD |
rs887654358 | p.Glu191Asp | missense variant | - | NC_000010.11:g.22326921G>T | TOPMed |
rs536718245 | p.Ile198Val | missense variant | - | NC_000010.11:g.22326940A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1203399014 | p.Asn211His | missense variant | - | NC_000010.11:g.22326979A>C | gnomAD |
rs1323074440 | p.Ile212Val | missense variant | - | NC_000010.11:g.22326982A>G | gnomAD |
rs1389866664 | p.Thr217Ser | missense variant | - | NC_000010.11:g.22327606C>G | gnomAD |
rs763818630 | p.Ile221Met | missense variant | - | NC_000010.11:g.22327619T>G | ExAC,TOPMed,gnomAD |
rs1341130987 | p.Ile221Thr | missense variant | - | NC_000010.11:g.22327618T>C | TOPMed,gnomAD |
rs1260869205 | p.Asn232Lys | missense variant | - | NC_000010.11:g.22327743T>G | gnomAD |
rs763906949 | p.Lys235Glu | missense variant | - | NC_000010.11:g.22327750A>G | ExAC,gnomAD |
rs1469458151 | p.Ala243Thr | missense variant | - | NC_000010.11:g.22327774G>A | gnomAD |
rs139371320 | p.Ser246Cys | missense variant | - | NC_000010.11:g.22327784C>G | ESP,TOPMed |
rs761499549 | p.Ala247Pro | missense variant | - | NC_000010.11:g.22327786G>C | ExAC,TOPMed,gnomAD |
rs1360423416 | p.Asp248Glu | missense variant | - | NC_000010.11:g.22327791T>A | gnomAD |
rs145972442 | p.Asp248Val | missense variant | - | NC_000010.11:g.22327790A>T | ESP,ExAC,TOPMed,gnomAD |
rs752150110 | p.Ala249Val | missense variant | - | NC_000010.11:g.22327950C>T | ExAC,TOPMed,gnomAD |
rs1290608620 | p.Ala250Ser | missense variant | - | NC_000010.11:g.22327952G>T | gnomAD |
rs760224972 | p.Asn251Asp | missense variant | - | NC_000010.11:g.22327955A>G | ExAC,gnomAD |
rs757918929 | p.Asn251Ser | missense variant | - | NC_000010.11:g.22327956A>G | ExAC,gnomAD |
rs1223657592 | p.Val260Ile | missense variant | - | NC_000010.11:g.22327982G>A | gnomAD |
rs764472509 | p.Thr269Ala | missense variant | - | NC_000010.11:g.22328009A>G | ExAC,gnomAD |
rs1034322141 | p.Ile278Val | missense variant | - | NC_000010.11:g.22328036A>G | TOPMed |
rs757522660 | p.Phe281Ser | missense variant | - | NC_000010.11:g.22328046T>C | ExAC,gnomAD |
rs781442876 | p.Gln283Arg | missense variant | - | NC_000010.11:g.22328052A>G | ExAC,gnomAD |
rs781442876 | p.Gln283Pro | missense variant | - | NC_000010.11:g.22328052A>C | ExAC,gnomAD |
rs1214071588 | p.Arg285Gly | missense variant | - | NC_000010.11:g.22328057A>G | TOPMed |
rs530837837 | p.Arg288Gly | missense variant | - | NC_000010.11:g.22328141C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs182575015 | p.Arg288Gln | missense variant | - | NC_000010.11:g.22328142G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs530837837 | p.Arg288Trp | missense variant | - | NC_000010.11:g.22328141C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs762162726 | p.Val290Ile | missense variant | - | NC_000010.11:g.22328147G>A | ExAC,gnomAD |
rs767692282 | p.Ser297Cys | missense variant | - | NC_000010.11:g.22328169C>G | ExAC,TOPMed,gnomAD |
rs1366338297 | p.Glu299Lys | missense variant | - | NC_000010.11:g.22328174G>A | TOPMed |
rs1326897789 | p.Val301Ala | missense variant | - | NC_000010.11:g.22328601T>C | gnomAD |
rs1429973268 | p.Asn302Ser | missense variant | - | NC_000010.11:g.22328604A>G | gnomAD |
rs1268165271 | p.Lys304Thr | missense variant | - | NC_000010.11:g.22328610A>C | gnomAD |
rs1347220224 | p.Arg308Gln | missense variant | - | NC_000010.11:g.22328622G>A | gnomAD |
rs754013901 | p.Met313Val | missense variant | - | NC_000010.11:g.22328636A>G | ExAC,gnomAD |
rs868749055 | p.Thr314Ala | missense variant | - | NC_000010.11:g.22328639A>G | TOPMed |
rs765347768 | p.Met316Arg | missense variant | - | NC_000010.11:g.22328646T>G | ExAC,gnomAD |
rs765347768 | p.Met316Thr | missense variant | - | NC_000010.11:g.22328646T>C | ExAC,gnomAD |
rs758224919 | p.Ser324Cys | missense variant | - | NC_000010.11:g.22328669A>T | ExAC,gnomAD |
rs1159749636 | p.Phe332Val | missense variant | - | NC_000010.11:g.22328693T>G | gnomAD |
rs746758445 | p.Phe332Ser | missense variant | - | NC_000010.11:g.22328694T>C | ExAC,gnomAD |
rs1400017902 | p.Gln333Lys | missense variant | - | NC_000010.11:g.22328696C>A | gnomAD |
rs1206647896 | p.Asp335Tyr | missense variant | - | NC_000010.11:g.22329051G>T | TOPMed |
rs374772719 | p.Met337Ile | missense variant | - | NC_000010.11:g.22329059G>C | ESP,ExAC,TOPMed,gnomAD |
rs368898842 | p.Glu339Gly | missense variant | - | NC_000010.11:g.22329064A>G | ESP,TOPMed,gnomAD |
rs1357298199 | p.Pro342Ser | missense variant | - | NC_000010.11:g.22329072C>T | TOPMed |
rs1366486896 | p.Met350Thr | missense variant | - | NC_000010.11:g.22329097T>C | gnomAD |
rs764148533 | p.Trp358Arg | missense variant | - | NC_000010.11:g.22329120T>C | ExAC,gnomAD |
rs1053920601 | p.Asn361Ser | missense variant | - | NC_000010.11:g.22329214A>G | TOPMed,gnomAD |
rs1325105001 | p.Leu364Phe | missense variant | - | NC_000010.11:g.22329222C>T | gnomAD |
rs746203016 | p.Arg371Gln | missense variant | - | NC_000010.11:g.22329244G>A | ExAC,gnomAD |
rs1202429072 | p.Lys375Glu | missense variant | - | NC_000010.11:g.22329255A>G | gnomAD |
rs1270856629 | p.Ser380Gly | missense variant | - | NC_000010.11:g.22329270A>G | TOPMed |
rs775560798 | p.His381Tyr | missense variant | - | NC_000010.11:g.22329273C>T | ExAC,gnomAD |
rs1476756983 | p.Gln382His | missense variant | - | NC_000010.11:g.22329278G>T | gnomAD |
rs763176154 | p.Gln382Pro | missense variant | - | NC_000010.11:g.22329277A>C | ExAC,TOPMed,gnomAD |
rs1201320002 | p.Gly385Glu | missense variant | - | NC_000010.11:g.22329286G>A | gnomAD |
rs1023647345 | p.Leu386Val | missense variant | - | NC_000010.11:g.22329288C>G | TOPMed |
rs202165238 | p.Ala389Val | missense variant | - | NC_000010.11:g.22329298C>T | 1000Genomes,ExAC,gnomAD |
rs1173995971 | p.Gly390Arg | missense variant | - | NC_000010.11:g.22329300G>A | gnomAD |
rs761763487 | p.Glu391Asp | missense variant | - | NC_000010.11:g.22329305A>T | ExAC,TOPMed,gnomAD |
rs1454743744 | p.Asp399GluLysTyrPheTyrTerValIleUnk | stop gained | - | NC_000010.11:g.22329328_22329329insAAAATATTTTTATTAAGTAATA | gnomAD |
rs1288860147 | p.Asp399Glu | missense variant | - | NC_000010.11:g.22329329C>A | gnomAD |
rs1369792740 | p.Ala401Thr | missense variant | - | NC_000010.11:g.22329333G>A | TOPMed |
rs1009236602 | p.Asn402Tyr | missense variant | - | NC_000010.11:g.22329336A>T | gnomAD |
rs750261916 | p.Asn402Ser | missense variant | - | NC_000010.11:g.22329337A>G | ExAC,gnomAD |
rs1345703450 | p.Gly406Glu | missense variant | - | NC_000010.11:g.22329349G>A | gnomAD |
rs1443642428 | p.Gly407Asp | missense variant | - | NC_000010.11:g.22329352G>A | TOPMed |
rs760461431 | p.Pro409Thr | missense variant | - | NC_000010.11:g.22329357C>A | ExAC,gnomAD |
rs1318256822 | p.Ser410Thr | missense variant | - | NC_000010.11:g.22329360T>A | gnomAD |
rs753450025 | p.Ser412Cys | missense variant | - | NC_000010.11:g.22329367C>G | ExAC,gnomAD |
rs753450025 | p.Ser412Phe | missense variant | - | NC_000010.11:g.22329367C>T | ExAC,gnomAD |
rs754615197 | p.Cys414Tyr | missense variant | - | NC_000010.11:g.22329373G>A | ExAC,gnomAD |
rs778305888 | p.Pro416Leu | missense variant | - | NC_000010.11:g.22329379C>T | ExAC,gnomAD |
rs752226313 | p.Pro418Arg | missense variant | - | NC_000010.11:g.22329385C>G | ExAC,gnomAD |
rs376521566 | p.Ser419Gly | missense variant | - | NC_000010.11:g.22329387A>G | ESP,ExAC,gnomAD |
rs1410240311 | p.Val422Gly | missense variant | - | NC_000010.11:g.22329397T>G | gnomAD |
rs1419820839 | p.Pro425Arg | missense variant | - | NC_000010.11:g.22329406C>G | gnomAD |
rs368232993 | p.Gln428Leu | missense variant | - | NC_000010.11:g.22329415A>T | ESP,ExAC |
rs145613627 | p.Phe429Ser | missense variant | - | NC_000010.11:g.22329418T>C | ESP,ExAC,TOPMed,gnomAD |
rs148911593 | p.Thr435Ala | missense variant | - | NC_000010.11:g.22329435A>G | ESP,ExAC,TOPMed,gnomAD |
rs780400625 | p.Met436Val | missense variant | - | NC_000010.11:g.22329438A>G | ExAC,TOPMed,gnomAD |
rs749504587 | p.Met436Ile | missense variant | - | NC_000010.11:g.22329440G>A | ExAC,gnomAD |
rs866781440 | p.Asn441Ser | missense variant | - | NC_000010.11:g.22329454A>G | TOPMed |
rs761853504 | p.Gly445Ser | missense variant | - | NC_000010.11:g.22329465G>A | ExAC,gnomAD |
rs772066505 | p.His447Tyr | missense variant | - | NC_000010.11:g.22329471C>T | ExAC,gnomAD |
rs773125077 | p.Gln448Ter | stop gained | - | NC_000010.11:g.22329474C>T | ExAC,gnomAD |
rs766114933 | p.Ser450Ala | missense variant | - | NC_000010.11:g.22329480T>G | ExAC,gnomAD |
rs201024480 | p.Asn453Ser | missense variant | - | NC_000010.11:g.22329490A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs764909255 | p.Arg454Lys | missense variant | - | NC_000010.11:g.22329493G>A | ExAC,gnomAD |
rs142604751 | p.Pro455Ser | missense variant | - | NC_000010.11:g.22329495C>T | ESP,ExAC,TOPMed,gnomAD |
rs757966770 | p.Arg456Ter | stop gained | - | NC_000010.11:g.22329498C>T | ExAC,gnomAD |
rs374810543 | p.Arg456Leu | missense variant | - | NC_000010.11:g.22329499G>T | ESP,TOPMed |
rs763640328 | p.Val460Ile | missense variant | - | NC_000010.11:g.22329510G>A | ExAC,gnomAD |
rs756604711 | p.Ser463Leu | missense variant | - | NC_000010.11:g.22329520C>T | ExAC,TOPMed,gnomAD |
rs780304444 | p.Ser464Pro | missense variant | - | NC_000010.11:g.22329522T>C | ExAC,gnomAD |
rs749643858 | p.Ser467Thr | missense variant | - | NC_000010.11:g.22329531T>A | ExAC,gnomAD |
rs755197537 | p.Gly469Arg | missense variant | - | NC_000010.11:g.22329537G>C | ExAC,gnomAD |