rs971142541 | p.Pro5Ala | missense variant | - | NC_000019.10:g.1250309C>G | TOPMed |
rs971142541 | p.Pro5Ser | missense variant | - | NC_000019.10:g.1250309C>T | TOPMed |
rs982104669 | p.Pro5Arg | missense variant | - | NC_000019.10:g.1250310C>G | TOPMed |
rs1478701659 | p.Gly6Asp | missense variant | - | NC_000019.10:g.1250313G>A | TOPMed |
rs1181265400 | p.Arg9Gly | missense variant | - | NC_000019.10:g.1250321C>G | TOPMed |
rs1036893755 | p.Ser10Arg | missense variant | - | NC_000019.10:g.1250326C>G | TOPMed |
rs940735755 | p.Ser10Asn | missense variant | - | NC_000019.10:g.1250325G>A | TOPMed,gnomAD |
rs907976425 | p.Ser10Gly | missense variant | - | NC_000019.10:g.1250324A>G | TOPMed |
rs1176003588 | p.Cys11Trp | missense variant | - | NC_000019.10:g.1250329C>G | gnomAD |
rs757450452 | p.Ala15Gly | missense variant | - | NC_000019.10:g.1250340C>G | ExAC,TOPMed,gnomAD |
rs757450452 | p.Ala15Asp | missense variant | - | NC_000019.10:g.1250340C>A | ExAC,TOPMed,gnomAD |
rs757450452 | p.Ala15Val | missense variant | - | NC_000019.10:g.1250340C>T | ExAC,TOPMed,gnomAD |
rs919756257 | p.Pro16Leu | missense variant | - | NC_000019.10:g.1250343C>T | TOPMed,gnomAD |
rs1320520510 | p.Pro16Ser | missense variant | - | NC_000019.10:g.1250342C>T | TOPMed |
rs202070687 | p.Cys20Gly | missense variant | - | NC_000019.10:g.1250354T>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs758754948 | p.Gly23Arg | missense variant | - | NC_000019.10:g.1250363G>C | ExAC,TOPMed,gnomAD |
rs758754948 | p.Gly23Cys | missense variant | - | NC_000019.10:g.1250363G>T | ExAC,TOPMed,gnomAD |
rs758754948 | p.Gly23Ser | missense variant | - | NC_000019.10:g.1250363G>A | ExAC,TOPMed,gnomAD |
rs1050117643 | p.Pro24Thr | missense variant | - | NC_000019.10:g.1250366C>A | TOPMed |
rs1410496610 | p.Pro24Arg | missense variant | - | NC_000019.10:g.1250367C>G | gnomAD |
rs752001667 | p.Glu27Lys | missense variant | - | NC_000019.10:g.1250375G>A | ExAC,TOPMed,gnomAD |
rs755477061 | p.Glu27Ala | missense variant | - | NC_000019.10:g.1250376A>C | ExAC,gnomAD |
rs1415940793 | p.Ala29Thr | missense variant | - | NC_000019.10:g.1250381G>A | TOPMed |
rs1312429457 | p.Pro30Ser | missense variant | - | NC_000019.10:g.1250384C>T | gnomAD |
rs777300728 | p.Met31Ile | missense variant | - | NC_000019.10:g.1250389G>C | ExAC,TOPMed,gnomAD |
rs1209656447 | p.Met31Val | missense variant | - | NC_000019.10:g.1250387A>G | gnomAD |
rs777300728 | p.Met31Ile | missense variant | - | NC_000019.10:g.1250389G>A | ExAC,TOPMed,gnomAD |
rs748774097 | p.Ser32Gly | missense variant | - | NC_000019.10:g.1250390A>G | ExAC |
rs770526250 | p.Ser32Thr | missense variant | - | NC_000019.10:g.1250391G>C | ExAC,TOPMed,gnomAD |
rs770526250 | p.Ser32Asn | missense variant | - | NC_000019.10:g.1250391G>A | ExAC,TOPMed,gnomAD |
rs745584780 | p.Ala34Val | missense variant | - | NC_000019.10:g.1250397C>T | ExAC,gnomAD |
rs775440270 | p.His36Tyr | missense variant | - | NC_000019.10:g.1250402C>T | ExAC,TOPMed,gnomAD |
rs368352874 | p.Ser37Cys | missense variant | - | NC_000019.10:g.1250405A>T | ESP |
rs768499988 | p.Thr39Met | missense variant | - | NC_000019.10:g.1250412C>T | ExAC,gnomAD |
rs1307423084 | p.Gly40Ala | missense variant | - | NC_000019.10:g.1250415G>C | TOPMed,gnomAD |
rs1430563088 | p.Gly40Ser | missense variant | - | NC_000019.10:g.1250414G>A | gnomAD |
rs1307423084 | p.Gly40Asp | missense variant | - | NC_000019.10:g.1250415G>A | TOPMed,gnomAD |
rs776678714 | p.Thr41Ser | missense variant | - | NC_000019.10:g.1250418C>G | ExAC,gnomAD |
rs765422422 | p.Arg42His | missense variant | - | NC_000019.10:g.1250421G>A | ExAC,gnomAD |
rs750594313 | p.Tyr43Cys | missense variant | - | NC_000019.10:g.1250424A>G | ExAC,gnomAD |
rs1300877196 | p.Asp44Asn | missense variant | - | NC_000019.10:g.1250426G>A | gnomAD |
rs766660331 | p.Leu45Val | missense variant | - | NC_000019.10:g.1250429C>G | ExAC,TOPMed,gnomAD |
rs755432431 | p.Pro48Ser | missense variant | - | NC_000019.10:g.1250438C>T | ExAC,TOPMed,gnomAD |
rs781531680 | p.Pro49Leu | missense variant | - | NC_000019.10:g.1250442C>T | ExAC,gnomAD |
rs756719134 | p.Asp50Asn | missense variant | - | NC_000019.10:g.1250444G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu54Asp | missense variant | - | NC_000019.10:g.1250458G>C | NCI-TCGA |
rs779945506 | p.Gly55Ala | missense variant | - | NC_000019.10:g.1250460G>C | ExAC,TOPMed,gnomAD |
rs779945506 | p.Gly55Glu | missense variant | - | NC_000019.10:g.1250460G>A | ExAC,TOPMed,gnomAD |
rs1407120806 | p.Leu56Met | missense variant | - | NC_000019.10:g.1250462C>A | gnomAD |
rs768534431 | p.Lys58Gln | missense variant | - | NC_000019.10:g.1250468A>C | ExAC,gnomAD |
rs1349796220 | p.Lys58Asn | missense variant | - | NC_000019.10:g.1250470G>C | gnomAD |
rs776426661 | p.Arg59Trp | missense variant | - | NC_000019.10:g.1250471C>T | ExAC,gnomAD |
rs769702282 | p.Arg63His | missense variant | - | NC_000019.10:g.1250484G>A | ExAC,TOPMed,gnomAD |
rs763117290 | p.Leu64Phe | missense variant | - | NC_000019.10:g.1250486C>T | ExAC,TOPMed,gnomAD |
rs1229527549 | p.Lys65Asn | missense variant | - | NC_000019.10:g.1250491A>C | TOPMed,gnomAD |
rs751831953 | p.Val66Met | missense variant | - | NC_000019.10:g.1250492G>A | ExAC,gnomAD |
rs767994744 | p.Lys68Asn | missense variant | - | NC_000019.10:g.1250500G>T | ExAC,gnomAD |
rs1267741866 | p.Lys68Gln | missense variant | - | NC_000019.10:g.1250498A>C | TOPMed |
rs759792077 | p.Lys68Arg | missense variant | - | NC_000019.10:g.1250499A>G | ExAC,gnomAD |
rs756660095 | p.Arg70His | missense variant | - | NC_000019.10:g.1250505G>A | ExAC,gnomAD |
rs746724270 | p.Ala72Gly | missense variant | - | NC_000019.10:g.1250511C>G | ExAC,TOPMed,gnomAD |
rs779820891 | p.Ala72Thr | missense variant | - | NC_000019.10:g.1250510G>A | ExAC,TOPMed,gnomAD |
rs746724270 | p.Ala72Val | missense variant | - | NC_000019.10:g.1250511C>T | ExAC,TOPMed,gnomAD |
rs754714322 | p.Leu73Val | missense variant | - | NC_000019.10:g.1250513C>G | ExAC,TOPMed,gnomAD |
rs1241748417 | p.Leu74Phe | missense variant | - | NC_000019.10:g.1250516C>T | TOPMed |
rs781052615 | p.Asp77Glu | missense variant | - | NC_000019.10:g.1250527C>A | ExAC,TOPMed,gnomAD |
rs1389895531 | p.Thr78Asn | missense variant | - | NC_000019.10:g.1250529C>A | TOPMed,gnomAD |
rs1389895531 | p.Thr78Ile | missense variant | - | NC_000019.10:g.1250529C>T | TOPMed,gnomAD |
rs770442876 | p.Ser81Asn | missense variant | - | NC_000019.10:g.1251570G>A | ExAC,gnomAD |
rs1461023008 | p.Ser82Leu | missense variant | - | NC_000019.10:g.1251573C>T | gnomAD |
rs767007304 | p.Lys84Arg | missense variant | - | NC_000019.10:g.1251579A>G | ExAC,gnomAD |
rs375683589 | p.Lys84Asn | missense variant | - | NC_000019.10:g.1251580G>C | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Leu85ProPheSerTerUnk | frameshift | - | NC_000019.10:g.1251580_1251581insC | NCI-TCGA |
rs1296528392 | p.Phe88Cys | missense variant | - | NC_000019.10:g.1251591T>G | gnomAD |
rs1225321020 | p.Gly89Ser | missense variant | - | NC_000019.10:g.1251593G>A | gnomAD |
rs144043116 | p.Gly91Cys | missense variant | - | NC_000019.10:g.1251599G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs778888633 | p.Gly91Asp | missense variant | - | NC_000019.10:g.1251600G>A | ExAC,gnomAD |
rs778888633 | p.Gly91Val | missense variant | - | NC_000019.10:g.1251600G>T | ExAC,gnomAD |
rs1270299097 | p.Asp92Val | missense variant | - | NC_000019.10:g.1251603A>T | gnomAD |
rs758491546 | p.Ser94Thr | missense variant | - | NC_000019.10:g.1251609G>C | ExAC,gnomAD |
COSM1390510 | p.Ser94Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000019.10:g.1251610C>A | NCI-TCGA Cosmic |
rs1167616422 | p.Glu103Ter | stop gained | - | NC_000019.10:g.1251635G>T | gnomAD |
rs1290717832 | p.Met107Thr | missense variant | - | NC_000019.10:g.1251648T>C | TOPMed |
rs745951617 | p.Met107Val | missense variant | - | NC_000019.10:g.1251647A>G | ExAC,gnomAD |
rs779362405 | p.Ser108Tyr | missense variant | - | NC_000019.10:g.1251840C>A | ExAC,TOPMed,gnomAD |
rs779362405 | p.Ser108Phe | missense variant | - | NC_000019.10:g.1251840C>T | ExAC,TOPMed,gnomAD |
rs779362405 | p.Ser108Cys | missense variant | - | NC_000019.10:g.1251840C>G | ExAC,TOPMed,gnomAD |
rs1371697914 | p.Gln109Pro | missense variant | - | NC_000019.10:g.1251843A>C | TOPMed,gnomAD |
rs1346880159 | p.Gln109Glu | missense variant | - | NC_000019.10:g.1251842C>G | gnomAD |
rs1371697914 | p.Gln109Arg | missense variant | - | NC_000019.10:g.1251843A>G | TOPMed,gnomAD |
rs746431075 | p.Ala110Val | missense variant | - | NC_000019.10:g.1251846C>T | ExAC,TOPMed,gnomAD |
rs1221286491 | p.Ala110Thr | missense variant | - | NC_000019.10:g.1251845G>A | gnomAD |
rs1221286491 | p.Ala110Ser | missense variant | - | NC_000019.10:g.1251845G>T | gnomAD |
rs776121596 | p.Ser111Leu | missense variant | - | NC_000019.10:g.1251849C>T | ExAC,TOPMed,gnomAD |
rs769350537 | p.Arg112Ser | missense variant | - | NC_000019.10:g.1251853G>T | ExAC,TOPMed,gnomAD |
rs759296354 | p.Arg112Lys | missense variant | - | NC_000019.10:g.1251852G>A | ExAC,TOPMed,gnomAD |
rs1205185771 | p.Pro113Ser | missense variant | - | NC_000019.10:g.1251854C>T | gnomAD |
rs762620482 | p.Pro113Arg | missense variant | - | NC_000019.10:g.1251855C>G | ExAC,TOPMed,gnomAD |
rs762620482 | p.Pro113Leu | missense variant | - | NC_000019.10:g.1251855C>T | ExAC,TOPMed,gnomAD |
rs377700904 | p.Gln115His | missense variant | - | NC_000019.10:g.1251862G>C | ESP,ExAC,TOPMed,gnomAD |
rs375835337 | p.Val117Leu | missense variant | - | NC_000019.10:g.1251866G>C | ESP,ExAC,TOPMed,gnomAD |
rs375835337 | p.Val117Leu | missense variant | - | NC_000019.10:g.1251866G>T | ESP,ExAC,TOPMed,gnomAD |
rs945811171 | p.Met118Leu | missense variant | - | NC_000019.10:g.1251869A>T | TOPMed |
rs1278177515 | p.Gln119Ter | stop gained | - | NC_000019.10:g.1251872C>T | gnomAD |
rs757558824 | p.Leu121Val | missense variant | - | NC_000019.10:g.1251878C>G | ExAC,gnomAD |
rs758934723 | p.Glu122Gln | missense variant | - | NC_000019.10:g.1251881G>C | ExAC,TOPMed,gnomAD |
rs747586153 | p.Thr127Lys | missense variant | - | NC_000019.10:g.1251897C>A | ExAC,TOPMed,gnomAD |
rs747586153 | p.Thr127Arg | missense variant | - | NC_000019.10:g.1251897C>G | ExAC,TOPMed,gnomAD |
rs747586153 | p.Thr127Met | missense variant | - | NC_000019.10:g.1251897C>T | ExAC,TOPMed,gnomAD |
rs1264499113 | p.Val129Ile | missense variant | - | NC_000019.10:g.1254167G>A | gnomAD |
rs1461310491 | p.Ser130Gly | missense variant | - | NC_000019.10:g.1254170A>G | gnomAD |
rs1261868352 | p.Phe132Leu | missense variant | - | NC_000019.10:g.1254178C>A | gnomAD |
rs781181977 | p.Leu133Val | missense variant | - | NC_000019.10:g.1254179C>G | ExAC,TOPMed,gnomAD |
rs748137724 | p.Ser134Leu | missense variant | - | NC_000019.10:g.1254183C>T | ExAC,TOPMed,gnomAD |
rs1475414307 | p.Gly135Asp | missense variant | - | NC_000019.10:g.1254186G>A | gnomAD |
rs540283060 | p.Arg136Gly | missense variant | - | NC_000019.10:g.1254188C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs777832041 | p.Arg136His | missense variant | - | NC_000019.10:g.1254189G>A | ExAC,TOPMed,gnomAD |
rs540283060 | p.Arg136Cys | missense variant | - | NC_000019.10:g.1254188C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs749475160 | p.Ser137Trp | missense variant | - | NC_000019.10:g.1254192C>G | ExAC,gnomAD |
rs1201843362 | p.Thr140Ile | missense variant | - | NC_000019.10:g.1254201C>T | TOPMed |
rs761280459 | p.Asp147Asn | missense variant | - | NC_000019.10:g.1254221G>A | ExAC,TOPMed,gnomAD |
rs367835894 | p.Met149Val | missense variant | - | NC_000019.10:g.1254227A>G | ESP,ExAC,TOPMed,gnomAD |
rs762418714 | p.Met150Ile | missense variant | - | NC_000019.10:g.1254232G>A | ExAC,gnomAD |
rs766023183 | p.Phe151Leu | missense variant | - | NC_000019.10:g.1254235C>A | ExAC,gnomAD |
rs1259544499 | p.Val152Met | missense variant | - | NC_000019.10:g.1254236G>A | TOPMed,gnomAD |
rs1186999767 | p.Gln155His | missense variant | - | NC_000019.10:g.1254247G>T | gnomAD |
rs754784777 | p.Leu156Val | missense variant | - | NC_000019.10:g.1254248C>G | ExAC,gnomAD |
rs766611057 | p.Ala157Ser | missense variant | - | NC_000019.10:g.1254251G>T | ExAC,TOPMed,gnomAD |
rs766611057 | p.Ala157Thr | missense variant | - | NC_000019.10:g.1254251G>A | ExAC,TOPMed,gnomAD |
rs1417945925 | p.Ala158Thr | missense variant | - | NC_000019.10:g.1254254G>A | gnomAD |
rs1301581173 | p.Ala161Val | missense variant | - | NC_000019.10:g.1254264C>T | gnomAD |
rs1030971122 | p.Ala161Thr | missense variant | - | NC_000019.10:g.1254263G>A | TOPMed,gnomAD |
rs1302167084 | p.Leu163Arg | missense variant | - | NC_000019.10:g.1254270T>G | TOPMed |
rs770960950 | p.Gln164Leu | missense variant | - | NC_000019.10:g.1254273A>T | ExAC,gnomAD |
rs1224677681 | p.His165Arg | missense variant | - | NC_000019.10:g.1254276A>G | TOPMed,gnomAD |
rs779192162 | p.Arg166Gly | missense variant | - | NC_000019.10:g.1254278C>G | ExAC,gnomAD |
rs956082972 | p.Arg166His | missense variant | - | NC_000019.10:g.1254279G>A | TOPMed |
rs929315605 | p.Val168Ala | missense variant | - | NC_000019.10:g.1254285T>C | TOPMed,gnomAD |
rs761213192 | p.Ala170Thr | missense variant | - | NC_000019.10:g.1254290G>A | ExAC,gnomAD |
rs769262895 | p.Ala171Thr | missense variant | - | NC_000019.10:g.1254293G>A | ExAC,TOPMed,gnomAD |
rs769262895 | p.Ala171Ser | missense variant | - | NC_000019.10:g.1254293G>T | ExAC,TOPMed,gnomAD |
rs765860661 | p.Ala172Pro | missense variant | - | NC_000019.10:g.1254296G>C | ExAC,gnomAD |
rs1237817278 | p.Ala172Val | missense variant | - | NC_000019.10:g.1254297C>T | gnomAD |
rs759111690 | p.Ala174Thr | missense variant | - | NC_000019.10:g.1254302G>A | ExAC,TOPMed,gnomAD |
rs201144803 | p.Ala175Thr | missense variant | - | NC_000019.10:g.1254305G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs777660170 | p.Ala176Thr | missense variant | - | NC_000019.10:g.1254308G>A | ExAC,TOPMed,gnomAD |
rs1444179233 | p.Ala177Val | missense variant | - | NC_000019.10:g.1254312C>T | gnomAD |
rs1375729783 | p.Ala177Thr | missense variant | - | NC_000019.10:g.1254311G>A | gnomAD |
rs757347314 | p.Ala178Val | missense variant | - | NC_000019.10:g.1254315C>T | ExAC,TOPMed,gnomAD |
rs1305151140 | p.Ala178Thr | missense variant | - | NC_000019.10:g.1254314G>A | gnomAD |
rs562824172 | p.Arg179Pro | missense variant | - | NC_000019.10:g.1254318G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs562824172 | p.Arg179Gln | missense variant | - | NC_000019.10:g.1254318G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1338724071 | p.Arg179Trp | missense variant | - | NC_000019.10:g.1254317C>T | TOPMed |
rs758580814 | p.Gly180Glu | missense variant | - | NC_000019.10:g.1254321G>A | ExAC,TOPMed,gnomAD |
rs1195796182 | p.Asp181Asn | missense variant | - | NC_000019.10:g.1254323G>A | TOPMed,gnomAD |
rs368475536 | p.Asp181Val | missense variant | - | NC_000019.10:g.1254324A>T | ESP |
rs1195796182 | p.Asp181Tyr | missense variant | - | NC_000019.10:g.1254323G>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Asp181GlyPheSerTerUnk | frameshift | - | NC_000019.10:g.1254317_1254318insGG | NCI-TCGA |
rs780471332 | p.Ser183Asn | missense variant | - | NC_000019.10:g.1254330G>A | ExAC,TOPMed,gnomAD |
rs780471332 | p.Ser183Thr | missense variant | - | NC_000019.10:g.1254330G>C | ExAC,TOPMed,gnomAD |
rs747345791 | p.Ile184Met | missense variant | - | NC_000019.10:g.1254334A>G | ExAC,gnomAD |
rs1052046589 | p.Ala185Thr | missense variant | - | NC_000019.10:g.1254335G>A | TOPMed |
rs1410976374 | p.Ser186Phe | missense variant | - | NC_000019.10:g.1254339C>T | TOPMed,gnomAD |
rs1327585655 | p.Val188Glu | missense variant | - | NC_000019.10:g.1254345T>A | gnomAD |
rs748612554 | p.Val188Met | missense variant | - | NC_000019.10:g.1254344G>A | ExAC,TOPMed,gnomAD |
rs748612554 | p.Val188Leu | missense variant | - | NC_000019.10:g.1254344G>T | ExAC,TOPMed,gnomAD |
rs748612554 | p.Val188Leu | missense variant | - | NC_000019.10:g.1254344G>C | ExAC,TOPMed,gnomAD |
COSM2815886 | p.Val188CysPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000019.10:g.1254339C>- | NCI-TCGA Cosmic |
rs770403819 | p.Ser189Phe | missense variant | - | NC_000019.10:g.1254348C>T | ExAC,gnomAD |
rs759182331 | p.Ser190Leu | missense variant | - | NC_000019.10:g.1254351C>T | ExAC,TOPMed,gnomAD |
rs375261373 | p.Cys192Phe | missense variant | - | NC_000019.10:g.1254357G>T | ESP,ExAC,TOPMed,gnomAD |
rs375261373 | p.Cys192Tyr | missense variant | - | NC_000019.10:g.1254357G>A | ESP,ExAC,TOPMed,gnomAD |
rs751831100 | p.Cys192Trp | missense variant | - | NC_000019.10:g.1254358C>G | gnomAD |
rs201314448 | p.Arg193Gln | missense variant | - | NC_000019.10:g.1254360G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs753752976 | p.Arg193Trp | missense variant | - | NC_000019.10:g.1254359C>T | ExAC,gnomAD |
rs765322691 | p.Pro194Leu | missense variant | - | NC_000019.10:g.1254363C>T | ExAC,TOPMed,gnomAD |
rs1451199531 | p.Pro194Ser | missense variant | - | NC_000019.10:g.1254362C>T | gnomAD |
rs1451199531 | p.Pro194Ala | missense variant | - | NC_000019.10:g.1254362C>G | gnomAD |
rs372950930 | p.Val195Leu | missense variant | - | NC_000019.10:g.1254365G>T | ESP,ExAC,TOPMed,gnomAD |
rs372950930 | p.Val195Leu | missense variant | - | NC_000019.10:g.1254365G>C | ESP,ExAC,TOPMed,gnomAD |
rs1425659993 | p.Ser196Phe | missense variant | - | NC_000019.10:g.1254369C>T | TOPMed |
rs1367900582 | p.Ala198Val | missense variant | - | NC_000019.10:g.1254375C>T | TOPMed |
rs377245188 | p.Ala199Thr | missense variant | - | NC_000019.10:g.1254377G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs748646040 | p.Ala199Val | missense variant | - | NC_000019.10:g.1254378C>T | ExAC,TOPMed,gnomAD |
rs755188181 | p.Arg200Gln | missense variant | - | NC_000019.10:g.1254381G>A | ExAC,TOPMed,gnomAD |
rs771641098 | p.Pro202Leu | missense variant | - | NC_000019.10:g.1254387C>T | ExAC,gnomAD |
rs369043794 | p.Pro202Ser | missense variant | - | NC_000019.10:g.1254386C>T | ESP,ExAC,TOPMed,gnomAD |
rs373111260 | p.Pro203Leu | missense variant | - | NC_000019.10:g.1254390C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs373111260 | p.Pro203Arg | missense variant | - | NC_000019.10:g.1254390C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Val204GlyPheSerTerUnkUnk | frameshift | - | NC_000019.10:g.1254384_1254385insC | NCI-TCGA |
rs1283703268 | p.Val204Gly | missense variant | - | NC_000019.10:g.1254393T>G | TOPMed |
rs371141933 | p.Pro205Ser | missense variant | - | NC_000019.10:g.1254395C>T | ESP |
rs1215725627 | p.Pro205Leu | missense variant | - | NC_000019.10:g.1254396C>T | TOPMed |
rs941670480 | p.Thr206Pro | missense variant | - | NC_000019.10:g.1254398A>C | TOPMed,gnomAD |
rs941670480 | p.Thr206Ala | missense variant | - | NC_000019.10:g.1254398A>G | TOPMed,gnomAD |
rs556584144 | p.Thr206Ile | missense variant | - | NC_000019.10:g.1254399C>T | gnomAD |
rs556584144 | p.Thr206Asn | missense variant | - | NC_000019.10:g.1254399C>A | gnomAD |
rs376802436 | p.Pro208Gln | missense variant | - | NC_000019.10:g.1254405C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs376802436 | p.Pro208Leu | missense variant | - | NC_000019.10:g.1254405C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1447725798 | p.Ser209Tyr | missense variant | - | NC_000019.10:g.1254408C>A | gnomAD |
rs1300816776 | p.Ser209Pro | missense variant | - | NC_000019.10:g.1254407T>C | TOPMed |
rs371111878 | p.Pro210Leu | missense variant | - | NC_000019.10:g.1254411C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1419568914 | p.Pro213Arg | missense variant | - | NC_000019.10:g.1254420C>G | TOPMed |
rs1189136661 | p.Pro213Ser | missense variant | - | NC_000019.10:g.1254419C>T | gnomAD |
rs1368295962 | p.Ser214Leu | missense variant | - | NC_000019.10:g.1254423C>T | TOPMed,gnomAD |
rs1161164175 | p.Pro215Leu | missense variant | - | NC_000019.10:g.1254426C>T | gnomAD |
rs781569306 | p.Gly219Cys | missense variant | - | NC_000019.10:g.1254437G>T | ExAC,TOPMed,gnomAD |
rs752984194 | p.Gly219Val | missense variant | - | NC_000019.10:g.1254438G>T | ExAC,gnomAD |
rs781569306 | p.Gly219Ser | missense variant | - | NC_000019.10:g.1254437G>A | ExAC,TOPMed,gnomAD |
rs781569306 | p.Gly219Arg | missense variant | - | NC_000019.10:g.1254437G>C | ExAC,TOPMed,gnomAD |
rs550865023 | p.Arg222Leu | missense variant | - | NC_000019.10:g.1254447G>T | 1000Genomes,ExAC,gnomAD |
rs550865023 | p.Arg222Pro | missense variant | - | NC_000019.10:g.1254447G>C | 1000Genomes,ExAC,gnomAD |
rs550865023 | p.Arg222Gln | missense variant | - | NC_000019.10:g.1254447G>A | 1000Genomes,ExAC,gnomAD |
rs1339718301 | p.Arg222Trp | missense variant | - | NC_000019.10:g.1254446C>T | TOPMed,gnomAD |
rs1351601882 | p.Ala225Thr | missense variant | - | NC_000019.10:g.1254455G>A | gnomAD |
rs779545651 | p.Thr228Ala | missense variant | - | NC_000019.10:g.1254464A>G | ExAC,TOPMed,gnomAD |
rs746625320 | p.Thr229Asn | missense variant | - | NC_000019.10:g.1254468C>A | ExAC,TOPMed,gnomAD |
rs746625320 | p.Thr229Ile | missense variant | - | NC_000019.10:g.1254468C>T | ExAC,TOPMed,gnomAD |
rs1350107810 | p.Thr229Ala | missense variant | - | NC_000019.10:g.1254467A>G | gnomAD |
rs1441053430 | p.Cys230Phe | missense variant | - | NC_000019.10:g.1254471G>T | gnomAD |
rs761507139 | p.Pro231Leu | missense variant | - | NC_000019.10:g.1254474C>T | ExAC,TOPMed,gnomAD |
rs1234273229 | p.Pro231Ala | missense variant | - | NC_000019.10:g.1254473C>G | gnomAD |
rs761507139 | p.Pro231Arg | missense variant | - | NC_000019.10:g.1254474C>G | ExAC,TOPMed,gnomAD |
rs769687325 | p.Glu232Asp | missense variant | - | NC_000019.10:g.1254478G>T | ExAC,gnomAD |
rs951155864 | p.Glu232Lys | missense variant | - | NC_000019.10:g.1254476G>A | TOPMed,gnomAD |
rs951155864 | p.Glu232Gln | missense variant | - | NC_000019.10:g.1254476G>C | TOPMed,gnomAD |
rs759685503 | p.Gln233Glu | missense variant | - | NC_000019.10:g.1254902C>G | ExAC,TOPMed,gnomAD |
rs759685503 | p.Gln233Lys | missense variant | - | NC_000019.10:g.1254902C>A | ExAC,TOPMed,gnomAD |
rs369485715 | p.Met234Ile | missense variant | - | NC_000019.10:g.1254907G>A | ESP,ExAC,TOPMed,gnomAD |
rs767695604 | p.Met234Thr | missense variant | - | NC_000019.10:g.1254906T>C | ExAC,gnomAD |
rs1177041836 | p.Asp235Asn | missense variant | - | NC_000019.10:g.1254908G>A | gnomAD |
rs760959993 | p.Cys236Arg | missense variant | - | NC_000019.10:g.1254911T>C | ExAC,gnomAD |
rs796369265 | p.Cys236Ser | missense variant | - | NC_000019.10:g.1254912G>C | TOPMed |
rs1383990322 | p.Pro238Leu | missense variant | - | NC_000019.10:g.1254918C>T | gnomAD |
rs754226865 | p.Pro238Ala | missense variant | - | NC_000019.10:g.1254917C>G | ExAC,gnomAD |
rs754226865 | p.Pro238Ser | missense variant | - | NC_000019.10:g.1254917C>T | ExAC,gnomAD |
rs765726789 | p.Thr239Met | missense variant | - | NC_000019.10:g.1254921C>T | ExAC,TOPMed,gnomAD |
rs765726789 | p.Thr239Lys | missense variant | - | NC_000019.10:g.1254921C>A | ExAC,TOPMed,gnomAD |
COSM6083752 | p.Thr239Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000019.10:g.1254920A>T | NCI-TCGA Cosmic |
rs369167917 | p.Ser241Asn | missense variant | - | NC_000019.10:g.1254927G>A | ESP,gnomAD |
rs140723918 | p.Ser241Arg | missense variant | - | NC_000019.10:g.1254928C>A | ESP,ExAC,TOPMed,gnomAD |
rs1487220554 | p.Ser242Arg | missense variant | - | NC_000019.10:g.1254931C>G | gnomAD |
rs1223047634 | p.Ser243Thr | missense variant | - | NC_000019.10:g.1254933G>C | TOPMed |
NCI-TCGA novel | p.Ser243Asn | missense variant | - | NC_000019.10:g.1254933G>A | NCI-TCGA |
rs755812511 | p.Pro246Arg | missense variant | - | NC_000019.10:g.1254942C>G | ExAC,TOPMed,gnomAD |
rs755812511 | p.Pro246Leu | missense variant | - | NC_000019.10:g.1254942C>T | ExAC,TOPMed,gnomAD |
rs749058593 | p.Gly247Cys | missense variant | - | NC_000019.10:g.1254944G>T | ExAC,gnomAD |
rs760344668 | p.Gly247Ala | missense variant | - | NC_000019.10:g.1254945G>C | gnomAD |
rs774418163 | p.Ala248Thr | missense variant | - | NC_000019.10:g.1254947G>A | ExAC,gnomAD |
rs149674816 | p.Ala248Val | missense variant | - | NC_000019.10:g.1254948C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs771979004 | p.Ser249Asn | missense variant | - | NC_000019.10:g.1254951G>A | ExAC,gnomAD |
rs775674509 | p.Thr250Ala | missense variant | - | NC_000019.10:g.1254953A>G | ExAC,gnomAD |
rs145605347 | p.Thr251Arg | missense variant | - | NC_000019.10:g.1254957C>G | ESP,ExAC,TOPMed,gnomAD |
rs145605347 | p.Thr251Met | missense variant | - | NC_000019.10:g.1254957C>T | ESP,ExAC,TOPMed,gnomAD |
rs1315330602 | p.Ser252Cys | missense variant | - | NC_000019.10:g.1254960C>G | gnomAD |
rs372488115 | p.Ser252Pro | missense variant | - | NC_000019.10:g.1254959T>C | ESP,ExAC,TOPMed,gnomAD |
rs762150212 | p.Thr253Ser | missense variant | - | NC_000019.10:g.1254962A>T | ExAC,gnomAD |
rs750859694 | p.Ser257Arg | missense variant | - | NC_000019.10:g.1254976C>G | ExAC,gnomAD |
rs141486022 | p.Ser257Asn | missense variant | - | NC_000019.10:g.1254975G>A | ESP |
COSM3528748 | p.Pro258Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000019.10:g.1254978C>T | NCI-TCGA Cosmic |
rs758975948 | p.Ala259Val | missense variant | - | NC_000019.10:g.1254981C>T | ExAC,TOPMed,gnomAD |
rs758975948 | p.Ala259Asp | missense variant | - | NC_000019.10:g.1254981C>A | ExAC,TOPMed,gnomAD |
rs776406415 | p.Arg261Gly | missense variant | - | NC_000019.10:g.1254986C>G | ExAC,TOPMed,gnomAD |
rs776406415 | p.Arg261Cys | missense variant | - | NC_000019.10:g.1254986C>T | ExAC,TOPMed,gnomAD |
rs1239127438 | p.Arg261His | missense variant | - | NC_000019.10:g.1254987G>A | TOPMed,gnomAD |
COSM1390515 | p.Arg261AlaPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000019.10:g.1254981C>- | NCI-TCGA Cosmic |
rs777565691 | p.Ser262Phe | missense variant | - | NC_000019.10:g.1254990C>T | ExAC,gnomAD |
rs571984011 | p.Arg263Gln | missense variant | - | NC_000019.10:g.1254993G>A | 1000Genomes,ExAC,gnomAD |
rs778856412 | p.Pro265Arg | missense variant | - | NC_000019.10:g.1254999C>G | ExAC,gnomAD |
rs772073371 | p.Gly266Ser | missense variant | - | NC_000019.10:g.1255001G>A | ExAC,gnomAD |
rs138120774 | p.Val268Ile | missense variant | - | NC_000019.10:g.1255007G>A | ESP,ExAC,TOPMed,gnomAD |
rs917487436 | p.Glu270Lys | missense variant | - | NC_000019.10:g.1255013G>A | TOPMed,gnomAD |
COSM991290 | p.Glu270Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000019.10:g.1255013G>T | NCI-TCGA Cosmic |
rs950121331 | p.Phe272Leu | missense variant | - | NC_000019.10:g.1255019T>C | TOPMed,gnomAD |
rs773648336 | p.His275Gln | missense variant | - | NC_000019.10:g.1255030C>A | ExAC,TOPMed,gnomAD |
rs560928353 | p.His275Tyr | missense variant | - | NC_000019.10:g.1255028C>T | gnomAD |
rs766876307 | p.Ala276Thr | missense variant | - | NC_000019.10:g.1255031G>A | ExAC,gnomAD |
rs752070614 | p.Ala276Gly | missense variant | - | NC_000019.10:g.1255032C>G | ExAC,gnomAD |
COSM709966 | p.Ala276Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000019.10:g.1255031G>T | NCI-TCGA Cosmic |
rs760220991 | p.Pro277Leu | missense variant | - | NC_000019.10:g.1255035C>T | ExAC,gnomAD |
COSM6149617 | p.Gly278Trp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000019.10:g.1255037G>T | NCI-TCGA Cosmic |
rs753475621 | p.Val279Ile | missense variant | - | NC_000019.10:g.1255040G>A | ExAC,TOPMed,gnomAD |
rs778805669 | p.Ser281Ter | stop gained | - | NC_000019.10:g.1255047C>G | ExAC,TOPMed,gnomAD |
rs778805669 | p.Ser281Leu | missense variant | - | NC_000019.10:g.1255047C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly282Arg | missense variant | - | NC_000019.10:g.1255049G>A | NCI-TCGA |
rs899672358 | p.Thr283Ile | missense variant | - | NC_000019.10:g.1255053C>T | TOPMed |
rs750214013 | p.Ser285Cys | missense variant | - | NC_000019.10:g.1255059C>G | ExAC,TOPMed,gnomAD |
rs750214013 | p.Ser285Phe | missense variant | - | NC_000019.10:g.1255059C>T | ExAC,TOPMed,gnomAD |
rs756131224 | p.Thr287Met | missense variant | - | NC_000019.10:g.1255425C>T | ExAC,TOPMed,gnomAD |
rs749487603 | p.Leu288Pro | missense variant | - | NC_000019.10:g.1255428T>C | ExAC,gnomAD |
rs1472282455 | p.His289Gln | missense variant | - | NC_000019.10:g.1255432C>A | gnomAD |
rs1054118396 | p.His289Tyr | missense variant | - | NC_000019.10:g.1255430C>T | TOPMed,gnomAD |
rs1419768768 | p.Asn291Ser | missense variant | - | NC_000019.10:g.1255437A>G | gnomAD |
rs1381684807 | p.Asn291Asp | missense variant | - | NC_000019.10:g.1255436A>G | gnomAD |
rs1382620894 | p.Cys292Trp | missense variant | - | NC_000019.10:g.1255441C>G | gnomAD |
rs1415982338 | p.Gln293Glu | missense variant | - | NC_000019.10:g.1255442C>G | gnomAD |
NCI-TCGA novel | p.Gln293Leu | missense variant | - | NC_000019.10:g.1255443A>T | NCI-TCGA |
rs948691530 | p.Asp294Asn | missense variant | - | NC_000019.10:g.1255445G>A | TOPMed,gnomAD |
rs948691530 | p.Asp294His | missense variant | - | NC_000019.10:g.1255445G>C | TOPMed,gnomAD |
rs1450791583 | p.Ser295Gly | missense variant | - | NC_000019.10:g.1255448A>G | TOPMed,gnomAD |
rs757443719 | p.Ser295Asn | missense variant | - | NC_000019.10:g.1255449G>A | ExAC,gnomAD |
rs1377830878 | p.Ser295Arg | missense variant | - | NC_000019.10:g.1255450C>A | gnomAD |
rs746209008 | p.Gly297Arg | missense variant | - | NC_000019.10:g.1255454G>A | ExAC,gnomAD |
rs143719550 | p.Arg298Gln | missense variant | - | NC_000019.10:g.1255458G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs370103542 | p.Arg298Trp | missense variant | - | NC_000019.10:g.1255457C>T | ESP,ExAC,TOPMed,gnomAD |
rs747519561 | p.Pro299Leu | missense variant | - | NC_000019.10:g.1255461C>T | ExAC,gnomAD |
rs769305020 | p.Arg300Trp | missense variant | - | NC_000019.10:g.1255463C>T | ExAC,TOPMed,gnomAD |
rs1439787680 | p.Arg300Gln | missense variant | - | NC_000019.10:g.1255464G>A | gnomAD |
rs762569175 | p.Arg301His | missense variant | - | NC_000019.10:g.1255467G>A | ExAC,TOPMed,gnomAD |
rs1362021177 | p.Arg301Cys | missense variant | - | NC_000019.10:g.1255466C>T | gnomAD |
rs1362021177 | p.Arg301Ser | missense variant | - | NC_000019.10:g.1255466C>A | gnomAD |
rs774057147 | p.Ile303Val | missense variant | - | NC_000019.10:g.1255472A>G | ExAC,gnomAD |
rs752565935 | p.Gly304Asp | missense variant | - | NC_000019.10:g.1255476G>A | ExAC,gnomAD |
rs369704822 | p.Gly304Ser | missense variant | - | NC_000019.10:g.1255475G>A | ESP,ExAC,TOPMed,gnomAD |
rs368745605 | p.Ile306Val | missense variant | - | NC_000019.10:g.1255481A>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gln308Pro | missense variant | - | NC_000019.10:g.1255488A>C | NCI-TCGA |
rs907385547 | p.Ile309Met | missense variant | - | NC_000019.10:g.1255492C>G | TOPMed,gnomAD |
rs1004318853 | p.Asp312Glu | missense variant | - | NC_000019.10:g.1255501C>A | TOPMed,gnomAD |
rs1343315031 | p.Asp312Asn | missense variant | - | NC_000019.10:g.1255499G>A | gnomAD |
rs746153442 | p.Ala316Thr | missense variant | - | NC_000019.10:g.1255511G>A | ExAC,gnomAD |
rs901299658 | p.Arg318Trp | missense variant | - | NC_000019.10:g.1255517C>T | TOPMed,gnomAD |
rs758781666 | p.Arg318Gln | missense variant | - | NC_000019.10:g.1255518G>A | ExAC,TOPMed,gnomAD |
rs148123521 | p.His319Arg | missense variant | - | NC_000019.10:g.1255521A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs747466564 | p.His319Tyr | missense variant | - | NC_000019.10:g.1255520C>T | ExAC,gnomAD |
rs1393051918 | p.Gly322Ser | missense variant | - | NC_000019.10:g.1255529G>A | gnomAD |
rs770532270 | p.Pro324His | missense variant | - | NC_000019.10:g.1255536C>A | ExAC,gnomAD |
rs1156414180 | p.Pro325Ser | missense variant | - | NC_000019.10:g.1255538C>T | TOPMed |
rs1220880950 | p.Pro325Leu | missense variant | - | NC_000019.10:g.1255539C>T | gnomAD |
rs1418165624 | p.Ser326Leu | missense variant | - | NC_000019.10:g.1255542C>T | TOPMed |
rs775287482 | p.Ala328Gly | missense variant | - | NC_000019.10:g.1255548C>G | ExAC,gnomAD |
rs775287482 | p.Ala328Val | missense variant | - | NC_000019.10:g.1255548C>T | ExAC,gnomAD |
rs372010057 | p.Gln329His | missense variant | - | NC_000019.10:g.1255552G>T | ESP,ExAC,TOPMed,gnomAD |
rs753884875 | p.Arg331His | missense variant | - | NC_000019.10:g.1255557G>A | ExAC,TOPMed,gnomAD |
rs763911167 | p.Arg331Cys | missense variant | - | NC_000019.10:g.1255556C>T | ExAC,gnomAD |
rs61742309 | p.His333Gln | missense variant | - | NC_000019.10:g.1255564C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs61742309 | p.His333Gln | missense variant | - | NC_000019.10:g.1255564C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs758714390 | p.Ala334Ser | missense variant | - | NC_000019.10:g.1255565G>T | ExAC,TOPMed,gnomAD |
rs758714390 | p.Ala334Thr | missense variant | - | NC_000019.10:g.1255565G>A | ExAC,TOPMed,gnomAD |
rs751836719 | p.Gln335Arg | missense variant | - | NC_000019.10:g.1255569A>G | ExAC,gnomAD |
rs1477368148 | p.Gln335His | missense variant | - | NC_000019.10:g.1255570G>C | gnomAD |
rs1231030612 | p.Cys336Tyr | missense variant | - | NC_000019.10:g.1255572G>A | gnomAD |
rs150627531 | p.Ser337Pro | missense variant | - | NC_000019.10:g.1255574T>C | ESP,ExAC,TOPMed,gnomAD |
rs150627531 | p.Ser337Thr | missense variant | - | NC_000019.10:g.1255574T>A | ESP,ExAC,TOPMed,gnomAD |
rs368341629 | p.Pro338Leu | missense variant | - | NC_000019.10:g.1255578C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs368341629 | p.Pro338Gln | missense variant | - | NC_000019.10:g.1255578C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs368341629 | p.Pro338Arg | missense variant | - | NC_000019.10:g.1255578C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1299332312 | p.Ala339Val | missense variant | - | NC_000019.10:g.1255581C>T | gnomAD |
rs1380821444 | p.Ser340Leu | missense variant | - | NC_000019.10:g.1255584C>T | TOPMed,gnomAD |
rs916497220 | p.Pro341Leu | missense variant | - | NC_000019.10:g.1255587C>T | TOPMed,gnomAD |
rs745476081 | p.Pro341Ser | missense variant | - | NC_000019.10:g.1255586C>T | ExAC,gnomAD |
rs916497220 | p.Pro341Arg | missense variant | - | NC_000019.10:g.1255587C>G | TOPMed,gnomAD |
rs775164553 | p.Ala342Val | missense variant | - | NC_000019.10:g.1255590C>T | ExAC,gnomAD |
rs1286561055 | p.Pro343Arg | missense variant | - | NC_000019.10:g.1255593C>G | gnomAD |
rs760387260 | p.Pro343Ser | missense variant | - | NC_000019.10:g.1255592C>T | ExAC,gnomAD |
rs537901815 | p.Asp344Asn | missense variant | - | NC_000019.10:g.1255595G>A | ExAC,gnomAD |
rs572411883 | p.Ala346Ser | missense variant | - | NC_000019.10:g.1255601G>T | ExAC,gnomAD |
rs572411883 | p.Ala346Thr | missense variant | - | NC_000019.10:g.1255601G>A | ExAC,gnomAD |
rs187496777 | p.Pro347Thr | missense variant | - | NC_000019.10:g.1255604C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1453278520 | p.Pro347Leu | missense variant | - | NC_000019.10:g.1255605C>T | TOPMed |
rs187496777 | p.Pro347Ser | missense variant | - | NC_000019.10:g.1255604C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs750505892 | p.Thr350Asn | missense variant | - | NC_000019.10:g.1255614C>A | ExAC,TOPMed,gnomAD |
rs750505892 | p.Thr350Ile | missense variant | - | NC_000019.10:g.1255614C>T | ExAC,TOPMed,gnomAD |
rs948365922 | p.Cys352Phe | missense variant | - | NC_000019.10:g.1255620G>T | TOPMed,gnomAD |
rs1360385206 | p.Cys352Arg | missense variant | - | NC_000019.10:g.1255619T>C | gnomAD |
rs768320010 | p.Glu353Lys | missense variant | - | NC_000019.10:g.1255622G>A | ExAC,TOPMed,gnomAD |
rs781621709 | p.Glu353Val | missense variant | - | NC_000019.10:g.1255623A>T | ExAC,gnomAD |
rs1313914947 | p.Lys354Met | missense variant | - | NC_000019.10:g.1255626A>T | TOPMed,gnomAD |
rs1313914947 | p.Lys354Thr | missense variant | - | NC_000019.10:g.1255626A>C | TOPMed,gnomAD |
rs1241608054 | p.Leu355Val | missense variant | - | NC_000019.10:g.1255628C>G | gnomAD |
rs375858262 | p.Thr356Ala | missense variant | - | NC_000019.10:g.1255631A>G | ESP,ExAC,TOPMed,gnomAD |
rs375858262 | p.Thr356Ser | missense variant | - | NC_000019.10:g.1255631A>T | ESP,ExAC,TOPMed,gnomAD |
rs142253784 | p.Thr356Met | missense variant | - | NC_000019.10:g.1255632C>T | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala357Ser | missense variant | - | NC_000019.10:g.1255634G>T | NCI-TCGA |
rs746690125 | p.Ala358Val | missense variant | - | NC_000019.10:g.1255638C>T | ExAC,TOPMed,gnomAD |
rs866456084 | p.Ala358Thr | missense variant | - | NC_000019.10:g.1255637G>A | gnomAD |
rs776504138 | p.Pro359Leu | missense variant | - | NC_000019.10:g.1255641C>T | ExAC,gnomAD |
rs373393011 | p.Pro359Ser | missense variant | - | NC_000019.10:g.1255640C>T | ESP,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser360GlnPheSerTerUnkUnkUnk | frameshift | - | NC_000019.10:g.1255638C>- | NCI-TCGA |
rs769818681 | p.Ala361Gly | missense variant | - | NC_000019.10:g.1255647C>G | ExAC,TOPMed,gnomAD |
rs769818681 | p.Ala361Val | missense variant | - | NC_000019.10:g.1255647C>T | ExAC,TOPMed,gnomAD |
rs1465794325 | p.Gly366Ser | missense variant | - | NC_000019.10:g.1255661G>A | gnomAD |
rs1405019786 | p.Gly366Asp | missense variant | - | NC_000019.10:g.1255662G>A | TOPMed |
rs1164743688 | p.Arg371Cys | missense variant | - | NC_000019.10:g.1255676C>T | TOPMed,gnomAD |
rs753084988 | p.Pro375Ser | missense variant | - | NC_000019.10:g.1255688C>T | ExAC,gnomAD |
rs1028967377 | p.Pro375His | missense variant | - | NC_000019.10:g.1255689C>A | TOPMed |
rs539386845 | p.Pro376Ser | missense variant | - | NC_000019.10:g.1255691C>T | 1000Genomes,ExAC,gnomAD |
rs377416779 | p.Pro376Leu | missense variant | - | NC_000019.10:g.1255692C>T | ESP,ExAC,TOPMed,gnomAD |
rs1301207246 | p.Gly377Val | missense variant | - | NC_000019.10:g.1256995G>T | gnomAD |
rs770879927 | p.Asp378Val | missense variant | - | NC_000019.10:g.1256998A>T | ExAC,gnomAD |
rs9823 | p.Asp378Glu | missense variant | - | NC_000019.10:g.1256999C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs139717027 | p.Arg379Trp | missense variant | - | NC_000019.10:g.1257000C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs775635166 | p.Arg379Gln | missense variant | - | NC_000019.10:g.1257001G>A | ExAC,gnomAD |
rs760894675 | p.Arg381Trp | missense variant | - | NC_000019.10:g.1257006C>T | ExAC,TOPMed,gnomAD |
rs376980746 | p.Arg381Gln | missense variant | - | NC_000019.10:g.1257007G>A | ESP,ExAC,TOPMed,gnomAD |
rs1358802007 | p.Gln382His | missense variant | - | NC_000019.10:g.1257011G>C | TOPMed,gnomAD |
rs1220987146 | p.Asn385Asp | missense variant | - | NC_000019.10:g.1257018A>G | TOPMed,gnomAD |
rs777006467 | p.Arg386Gly | missense variant | - | NC_000019.10:g.1257021C>G | ExAC,TOPMed,gnomAD |
rs1488829360 | p.Arg386His | missense variant | - | NC_000019.10:g.1257022G>A | gnomAD |
rs777006467 | p.Arg386Cys | missense variant | - | NC_000019.10:g.1257021C>T | ExAC,TOPMed,gnomAD |
rs561185140 | p.Ala387Thr | missense variant | - | NC_000019.10:g.1257024G>A | 1000Genomes,ExAC,gnomAD |
rs149895689 | p.Thr388Met | missense variant | - | NC_000019.10:g.1257028C>T | ESP,ExAC,TOPMed,gnomAD |
rs1423452435 | p.Arg389His | missense variant | - | NC_000019.10:g.1257031G>A | gnomAD |
rs766939917 | p.Arg389Cys | missense variant | - | NC_000019.10:g.1257030C>T | ExAC,TOPMed,gnomAD |
rs890143559 | p.Cys390Arg | missense variant | - | NC_000019.10:g.1257033T>C | TOPMed,gnomAD |
rs890143559 | p.Cys390Gly | missense variant | - | NC_000019.10:g.1257033T>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Lys391Arg | missense variant | - | NC_000019.10:g.1257037A>G | NCI-TCGA |
rs1281382030 | p.Glu393Gln | missense variant | - | NC_000019.10:g.1257042G>C | TOPMed |
rs1317423292 | p.Arg394Gln | missense variant | - | NC_000019.10:g.1257046G>A | gnomAD |
rs1438859755 | p.Arg394Trp | missense variant | - | NC_000019.10:g.1257045C>T | TOPMed |
rs1326903964 | p.Gln396Leu | missense variant | - | NC_000019.10:g.1257052A>T | TOPMed |
rs1443565627 | p.Leu398Val | missense variant | - | NC_000019.10:g.1257057C>G | TOPMed |
rs777616787 | p.Gln400Arg | missense variant | - | NC_000019.10:g.1257064A>G | ExAC,gnomAD |
rs753656348 | p.Gln401His | missense variant | - | NC_000019.10:g.1257068G>C | ExAC,gnomAD |
rs905382315 | p.Arg403Trp | missense variant | - | NC_000019.10:g.1257072C>T | TOPMed |
rs371624768 | p.Arg403Gln | missense variant | - | NC_000019.10:g.1257073G>A | ESP,ExAC,TOPMed,gnomAD |
rs778898762 | p.Arg405Ser | missense variant | - | NC_000019.10:g.1257078C>A | ExAC,gnomAD |
rs778898762 | p.Arg405Cys | missense variant | - | NC_000019.10:g.1257078C>T | ExAC,gnomAD |
rs772126592 | p.Arg405His | missense variant | - | NC_000019.10:g.1257079G>A | ExAC,gnomAD |
rs772126592 | p.Arg405Leu | missense variant | - | NC_000019.10:g.1257079G>T | ExAC,gnomAD |
rs1211888524 | p.Arg406Gly | missense variant | - | NC_000019.10:g.1257081A>G | TOPMed,gnomAD |
rs780142860 | p.Lys407Arg | missense variant | - | NC_000019.10:g.1257085A>G | ExAC,gnomAD |
rs1035267831 | p.Arg410Gln | missense variant | - | NC_000019.10:g.1257094G>A | TOPMed,gnomAD |
rs762221657 | p.Asp411Glu | missense variant | - | NC_000019.10:g.1257098C>G | ExAC,TOPMed,gnomAD |
rs776900685 | p.Asp411Gly | missense variant | - | NC_000019.10:g.1257097A>G | ExAC,TOPMed,gnomAD |
rs1448188445 | p.Asp411His | missense variant | - | NC_000019.10:g.1257096G>C | gnomAD |
rs773701369 | p.Ala412Thr | missense variant | - | NC_000019.10:g.1257099G>A | ExAC,gnomAD |
rs763398874 | p.Ala412Val | missense variant | - | NC_000019.10:g.1257100C>T | ExAC,TOPMed,gnomAD |
rs760302974 | p.Arg413Gln | missense variant | - | NC_000019.10:g.1257103G>A | ExAC,TOPMed,gnomAD |
rs763834960 | p.Gly414Cys | missense variant | - | NC_000019.10:g.1257105G>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly414Arg | missense variant | - | NC_000019.10:g.1257105G>C | NCI-TCGA |
rs1333492951 | p.Pro415Leu | missense variant | - | NC_000019.10:g.1257109C>T | gnomAD |
COSM225397 | p.Pro415Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000019.10:g.1257108C>T | NCI-TCGA Cosmic |
rs757020602 | p.Tyr416Ter | stop gained | - | NC_000019.10:g.1257113C>A | ExAC,gnomAD |
COSM4074359 | p.Tyr416Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000019.10:g.1257112A>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.His417Gln | missense variant | - | NC_000019.10:g.1257116C>A | NCI-TCGA |
rs764949586 | p.Ser419Pro | missense variant | - | NC_000019.10:g.1257120T>C | ExAC,TOPMed,gnomAD |
rs1347434139 | p.Pro420Ala | missense variant | - | NC_000019.10:g.1257123C>G | TOPMed,gnomAD |
rs148644773 | p.Arg422Leu | missense variant | - | NC_000019.10:g.1257130G>T | ESP,ExAC,TOPMed,gnomAD |
rs143942530 | p.Arg422Cys | missense variant | - | NC_000019.10:g.1257129C>T | ESP,ExAC,TOPMed,gnomAD |
rs148644773 | p.Arg422His | missense variant | - | NC_000019.10:g.1257130G>A | ESP,ExAC,TOPMed,gnomAD |
rs1460625227 | p.Ala424Pro | missense variant | - | NC_000019.10:g.1257135G>C | gnomAD |
rs147781717 | p.Gly425Arg | missense variant | - | NC_000019.10:g.1257138G>C | ESP,ExAC,TOPMed,gnomAD |
rs147781717 | p.Gly425Ser | missense variant | - | NC_000019.10:g.1257138G>A | ESP,ExAC,TOPMed,gnomAD |
COSM3403772 | p.Gly425Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000019.10:g.1257139G>A | NCI-TCGA Cosmic |
rs773469970 | p.Arg426His | missense variant | - | NC_000019.10:g.1257142G>A | ExAC,TOPMed,gnomAD |
rs770154213 | p.Arg426Cys | missense variant | - | NC_000019.10:g.1257141C>T | ExAC,TOPMed,gnomAD |
rs773469970 | p.Arg426Leu | missense variant | - | NC_000019.10:g.1257142G>T | ExAC,TOPMed,gnomAD |
rs773469970 | p.Arg426Pro | missense variant | - | NC_000019.10:g.1257142G>C | ExAC,TOPMed,gnomAD |
rs1418401940 | p.Asp428Glu | missense variant | - | NC_000019.10:g.1257149C>G | TOPMed |
rs539586624 | p.Asp428Asn | missense variant | - | NC_000019.10:g.1257147G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs61743656 | p.Ser429Asn | missense variant | - | NC_000019.10:g.1257151G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1186868811 | p.Ser429Gly | missense variant | - | NC_000019.10:g.1257150A>G | TOPMed |
rs61743656 | p.Ser429Thr | missense variant | - | NC_000019.10:g.1257151G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1186868811 | p.Ser429Cys | missense variant | - | NC_000019.10:g.1257150A>T | TOPMed |
COSM3748042 | p.Ser430Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000019.10:g.1257155T>G | NCI-TCGA Cosmic |
rs761405102 | p.Gly433Arg | missense variant | - | NC_000019.10:g.1257162G>A | ExAC,gnomAD |
COSM1390518 | p.Gly434AlaPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000019.10:g.1257162G>- | NCI-TCGA Cosmic |
rs890720169 | p.Gly435Val | missense variant | - | NC_000019.10:g.1257169G>T | gnomAD |
rs570181170 | p.Gly435Arg | missense variant | - | NC_000019.10:g.1257168G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs570181170 | p.Gly435Ser | missense variant | - | NC_000019.10:g.1257168G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs537671815 | p.Gly436Ser | missense variant | - | NC_000019.10:g.1257171G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs147606566 | p.Gly436Val | missense variant | - | NC_000019.10:g.1257172G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs147606566 | p.Gly436Asp | missense variant | - | NC_000019.10:g.1257172G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs781280500 | p.Ser437Gly | missense variant | - | NC_000019.10:g.1257174A>G | ExAC,TOPMed,gnomAD |
rs372267981 | p.Ser439Asn | missense variant | - | NC_000019.10:g.1257181G>A | ESP,ExAC,TOPMed,gnomAD |
rs372267981 | p.Ser439Ile | missense variant | - | NC_000019.10:g.1257181G>T | ESP,ExAC,TOPMed,gnomAD |
rs201498147 | p.Ser439Arg | missense variant | - | NC_000019.10:g.1257182C>G | ESP,ExAC,TOPMed,gnomAD |
rs372267981 | p.Ser439Thr | missense variant | - | NC_000019.10:g.1257181G>C | ESP,ExAC,TOPMed,gnomAD |
rs955924688 | p.Glu440Lys | missense variant | - | NC_000019.10:g.1257183G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Glu440Gln | missense variant | - | NC_000019.10:g.1257183G>C | NCI-TCGA |
rs771481143 | p.Gly443Ser | missense variant | - | NC_000019.10:g.1257192G>A | ExAC,gnomAD |
rs1332846558 | p.Leu444Ser | missense variant | - | NC_000019.10:g.1257196T>C | gnomAD |
rs746383092 | p.Gly445Ser | missense variant | - | NC_000019.10:g.1257198G>A | ExAC,gnomAD |
rs201428769 | p.Leu446Arg | missense variant | - | NC_000019.10:g.1257202T>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs768243814 | p.Leu446Ile | missense variant | - | NC_000019.10:g.1257201C>A | ExAC,TOPMed,gnomAD |
rs764769740 | p.Asp447Asn | missense variant | - | NC_000019.10:g.1257204G>A | ExAC,gnomAD |
rs1190136040 | p.Glu449Lys | missense variant | - | NC_000019.10:g.1257210G>A | TOPMed |
rs1344096619 | p.Val452Leu | missense variant | - | NC_000019.10:g.1257219G>T | gnomAD |
rs1344096619 | p.Val452Met | missense variant | - | NC_000019.10:g.1257219G>A | gnomAD |
rs1402228240 | p.Trp453Gly | missense variant | - | NC_000019.10:g.1257222T>G | gnomAD |
rs1326621390 | p.Glu456Asp | missense variant | - | NC_000019.10:g.1257233A>T | gnomAD |
rs1226189478 | p.Pro459Thr | missense variant | - | NC_000019.10:g.1257240C>A | gnomAD |
NCI-TCGA novel | p.Glu464ArgPheSerTerUnkUnk | frameshift | - | NC_000019.10:g.1257253_1257254insA | NCI-TCGA |
rs752687659 | p.Val466Met | missense variant | - | NC_000019.10:g.1257261G>A | ExAC,gnomAD |
rs756283647 | p.Val466Ala | missense variant | - | NC_000019.10:g.1257262T>C | ExAC,gnomAD |
rs200865184 | p.Ala468Thr | missense variant | - | NC_000019.10:g.1257267G>A | 1000Genomes,ExAC,gnomAD |