rs960624347 | p.Gly3Arg | missense variant | - | NC_000002.12:g.120346195G>A | TOPMed,gnomAD |
rs960624347 | p.Gly3Trp | missense variant | - | NC_000002.12:g.120346195G>T | TOPMed,gnomAD |
rs960624347 | p.Gly3Arg | missense variant | - | NC_000002.12:g.120346195G>C | TOPMed,gnomAD |
rs1450415604 | p.Gly6Ala | missense variant | - | NC_000002.12:g.120346205G>C | TOPMed |
rs1198729189 | p.Gly6Arg | missense variant | - | NC_000002.12:g.120346204G>C | TOPMed |
rs1181401457 | p.Arg7Pro | missense variant | - | NC_000002.12:g.120346208G>C | TOPMed,gnomAD |
rs1292041125 | p.Arg7Trp | missense variant | - | NC_000002.12:g.120346207C>T | TOPMed |
rs1181401457 | p.Arg7Leu | missense variant | - | NC_000002.12:g.120346208G>T | TOPMed,gnomAD |
rs1409949193 | p.Ala8Thr | missense variant | - | NC_000002.12:g.120346210G>A | TOPMed,gnomAD |
rs1272734266 | p.Ala11Thr | missense variant | - | NC_000002.12:g.120346219G>A | TOPMed |
rs1473807788 | p.Ala12Ser | missense variant | - | NC_000002.12:g.120346222G>T | TOPMed,gnomAD |
rs1473807788 | p.Ala12Pro | missense variant | - | NC_000002.12:g.120346222G>C | TOPMed,gnomAD |
rs1473807788 | p.Ala12Thr | missense variant | - | NC_000002.12:g.120346222G>A | TOPMed,gnomAD |
rs1434153838 | p.Ala12Val | missense variant | - | NC_000002.12:g.120346223C>T | TOPMed |
rs968275315 | p.Ala19Asp | missense variant | - | NC_000002.12:g.120346244C>A | TOPMed |
rs1303161649 | p.Ala19Thr | missense variant | - | NC_000002.12:g.120346243G>A | TOPMed |
rs1368231013 | p.Trp21Cys | missense variant | - | NC_000002.12:g.120346251G>T | TOPMed |
rs1429247332 | p.Leu22Arg | missense variant | - | NC_000002.12:g.120346253T>G | gnomAD |
rs1410212471 | p.Gly23Arg | missense variant | - | NC_000002.12:g.120346255G>A | TOPMed |
rs1468674990 | p.Pro24Ser | missense variant | - | NC_000002.12:g.120346258C>T | TOPMed,gnomAD |
rs1305058762 | p.Glu25Ala | missense variant | - | NC_000002.12:g.120346262A>C | gnomAD |
rs1271674533 | p.Gly28Ala | missense variant | - | NC_000002.12:g.120346271G>C | TOPMed |
rs1275457190 | p.Pro34Leu | missense variant | - | NC_000002.12:g.120346289C>T | gnomAD |
rs1200849451 | p.Thr35Pro | missense variant | - | NC_000002.12:g.120346291A>C | TOPMed |
rs1403758021 | p.Ala37Val | missense variant | - | NC_000002.12:g.120346298C>T | gnomAD |
rs1308329060 | p.Pro40Ser | missense variant | - | NC_000002.12:g.120346306C>T | TOPMed |
rs923684531 | p.Pro42Ser | missense variant | - | NC_000002.12:g.120346312C>T | TOPMed,gnomAD |
rs923684531 | p.Pro42Ala | missense variant | - | NC_000002.12:g.120346312C>G | TOPMed,gnomAD |
rs776937883 | p.Pro44Leu | missense variant | - | NC_000002.12:g.120346319C>T | ExAC,gnomAD |
rs1205688766 | p.Pro45Leu | missense variant | - | NC_000002.12:g.120346322C>T | gnomAD |
rs1250803329 | p.Gly46Arg | missense variant | - | NC_000002.12:g.120346324G>A | gnomAD |
rs11900747 | p.Ser47Ala | missense variant | - | NC_000002.12:g.120346327T>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs922912209 | p.Pro48Gln | missense variant | - | NC_000002.12:g.120346331C>A | TOPMed,gnomAD |
rs922912209 | p.Pro48Leu | missense variant | - | NC_000002.12:g.120346331C>T | TOPMed,gnomAD |
rs922912209 | p.Pro48Arg | missense variant | - | NC_000002.12:g.120346331C>G | TOPMed,gnomAD |
rs1477431621 | p.Gly50Ser | missense variant | - | NC_000002.12:g.120346336G>A | gnomAD |
rs1172288935 | p.Ser51Trp | missense variant | - | NC_000002.12:g.120346340C>G | gnomAD |
rs1392629369 | p.Gln52Pro | missense variant | - | NC_000002.12:g.120346343A>C | gnomAD |
rs765759011 | p.Asp53Asn | missense variant | - | NC_000002.12:g.120346345G>A | ExAC,TOPMed,gnomAD |
rs1307740331 | p.Thr54Ser | missense variant | - | NC_000002.12:g.120346349C>G | gnomAD |
rs1394800610 | p.Gly59Ser | missense variant | - | NC_000002.12:g.120346363G>A | gnomAD |
rs1324496256 | p.Gly60Ser | missense variant | - | NC_000002.12:g.120346366G>A | TOPMed,gnomAD |
rs754649687 | p.Arg62Gly | missense variant | - | NC_000002.12:g.120346372C>G | ExAC,TOPMed,gnomAD |
rs754649687 | p.Arg62Trp | missense variant | - | NC_000002.12:g.120346372C>T | ExAC,TOPMed,gnomAD |
rs1301150662 | p.Arg63Trp | missense variant | - | NC_000002.12:g.120346375C>T | gnomAD |
rs781205948 | p.Glu65Gln | missense variant | - | NC_000002.12:g.120346381G>C | ExAC,TOPMed,gnomAD |
rs757403274 | p.Gly68Cys | missense variant | - | NC_000002.12:g.120346390G>T | ExAC,TOPMed,gnomAD |
rs757403274 | p.Gly68Arg | missense variant | - | NC_000002.12:g.120346390G>C | ExAC,TOPMed,gnomAD |
rs1450521842 | p.Arg69Pro | missense variant | - | NC_000002.12:g.120346394G>C | gnomAD |
rs1391489233 | p.Val70Glu | missense variant | - | NC_000002.12:g.120346397T>A | gnomAD |
rs778928618 | p.Asp71Val | missense variant | - | NC_000002.12:g.120346400A>T | ExAC,gnomAD |
rs1249970261 | p.Gly72Cys | missense variant | - | NC_000002.12:g.120346402G>T | TOPMed,gnomAD |
rs1249970261 | p.Gly72Arg | missense variant | - | NC_000002.12:g.120346402G>C | TOPMed,gnomAD |
rs1371662893 | p.Asp73Asn | missense variant | - | NC_000002.12:g.120346405G>A | gnomAD |
rs1327012748 | p.Asp73Val | missense variant | - | NC_000002.12:g.120346406A>T | TOPMed |
rs1390366565 | p.Arg80Gln | missense variant | - | NC_000002.12:g.120346427G>A | TOPMed,gnomAD |
rs1164029745 | p.Arg80Trp | missense variant | - | NC_000002.12:g.120346426C>T | TOPMed,gnomAD |
rs1390366565 | p.Arg80Leu | missense variant | - | NC_000002.12:g.120346427G>T | TOPMed,gnomAD |
rs1164029745 | p.Arg80Gly | missense variant | - | NC_000002.12:g.120346426C>G | TOPMed,gnomAD |
rs1322566739 | p.Ile82Met | missense variant | - | NC_000002.12:g.120346434C>G | TOPMed,gnomAD |
rs1045851878 | p.Arg85His | missense variant | - | NC_000002.12:g.120346442G>A | gnomAD |
rs1045851878 | p.Arg85Leu | missense variant | - | NC_000002.12:g.120346442G>T | gnomAD |
rs747402186 | p.Gln87Arg | missense variant | - | NC_000002.12:g.120346448A>G | ExAC,gnomAD |
rs768864104 | p.Met88Ile | missense variant | - | NC_000002.12:g.120346452G>T | ExAC,gnomAD |
rs777218845 | p.Gly90Asp | missense variant | - | NC_000002.12:g.120346457G>A | ExAC,gnomAD |
rs1337832826 | p.Gly90Ser | missense variant | - | NC_000002.12:g.120346456G>A | TOPMed |
rs1268651265 | p.Asn93Ser | missense variant | - | NC_000002.12:g.120346466A>G | gnomAD |
rs1431762618 | p.Ile94Val | missense variant | - | NC_000002.12:g.120346468A>G | gnomAD |
rs1035714724 | p.His96Arg | missense variant | - | NC_000002.12:g.120346475A>G | TOPMed,gnomAD |
rs762205967 | p.His96Tyr | missense variant | - | NC_000002.12:g.120346474C>T | ExAC,TOPMed,gnomAD |
rs562575760 | p.Ala97Pro | missense variant | - | NC_000002.12:g.120346477G>C | 1000Genomes |
rs770515821 | p.Lys100Met | missense variant | - | NC_000002.12:g.120346487A>T | ExAC,TOPMed,gnomAD |
rs770515821 | p.Lys100Thr | missense variant | - | NC_000002.12:g.120346487A>C | ExAC,TOPMed,gnomAD |
rs1463427901 | p.Met103Ile | missense variant | - | NC_000002.12:g.120346497G>C | TOPMed |
rs529875491 | p.Thr105Met | missense variant | - | NC_000002.12:g.120346502C>T | 1000Genomes,TOPMed,gnomAD |
rs1288201915 | p.Arg108His | missense variant | - | NC_000002.12:g.120346511G>A | gnomAD |
rs998841719 | p.Ala112Glu | missense variant | - | NC_000002.12:g.120346523C>A | gnomAD |
COSM4084536 | p.Ala112Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120346522G>A | NCI-TCGA Cosmic |
rs763771792 | p.Gly113Asp | missense variant | - | NC_000002.12:g.120346526G>A | ExAC,gnomAD |
rs1214530105 | p.Arg116Cys | missense variant | - | NC_000002.12:g.120346534C>T | gnomAD |
rs757133834 | p.Glu117Asp | missense variant | - | NC_000002.12:g.120346539G>C | ExAC,TOPMed,gnomAD |
rs893115187 | p.Arg120Gly | missense variant | - | NC_000002.12:g.120346546C>G | TOPMed,gnomAD |
rs1291124907 | p.Val121Met | missense variant | - | NC_000002.12:g.120346549G>A | TOPMed |
rs923742193 | p.His125Tyr | missense variant | - | NC_000002.12:g.120346561C>T | TOPMed,gnomAD |
rs923742193 | p.His125Asp | missense variant | - | NC_000002.12:g.120346561C>G | TOPMed,gnomAD |
rs780288626 | p.Leu126Phe | missense variant | - | NC_000002.12:g.120346564C>T | ExAC,gnomAD |
rs747151266 | p.Asp127Gly | missense variant | - | NC_000002.12:g.120346568A>G | ExAC,gnomAD |
rs769114695 | p.Asp127Glu | missense variant | - | NC_000002.12:g.120346569C>G | ExAC,gnomAD |
rs748697458 | p.Gly128Ala | missense variant | - | NC_000002.12:g.120346571G>C | ExAC,TOPMed,gnomAD |
rs1386089217 | p.Ala130Gly | missense variant | - | NC_000002.12:g.120346577C>G | TOPMed |
rs201489869 | p.Pro132Arg | missense variant | - | NC_000002.12:g.120346583C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1374594037 | p.Gly133Val | missense variant | - | NC_000002.12:g.120346586G>T | gnomAD |
rs1350803575 | p.Gly136Ser | missense variant | - | NC_000002.12:g.120346594G>A | gnomAD |
rs1263629524 | p.Gln137His | missense variant | - | NC_000002.12:g.120346599G>C | TOPMed |
rs931631684 | p.Gln137Arg | missense variant | - | NC_000002.12:g.120346598A>G | TOPMed |
rs1222861466 | p.Glu138Val | missense variant | - | NC_000002.12:g.120346601A>T | gnomAD |
rs986438315 | p.Arg139Leu | missense variant | - | NC_000002.12:g.120346604G>T | TOPMed |
COSM4084538 | p.Ser141Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120346609T>C | NCI-TCGA Cosmic |
rs1252992323 | p.Glu148Asp | missense variant | - | NC_000002.12:g.120346632G>C | TOPMed,gnomAD |
rs1263108599 | p.Thr149Ala | missense variant | - | NC_000002.12:g.120346633A>G | TOPMed |
rs775328165 | p.Thr149Ile | missense variant | - | NC_000002.12:g.120346634C>T | ExAC,gnomAD |
rs1292293436 | p.Gly151Asp | missense variant | - | NC_000002.12:g.120349102G>A | gnomAD |
rs767641003 | p.Leu152Phe | missense variant | - | NC_000002.12:g.120349104C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala153Val | missense variant | - | NC_000002.12:g.120349108C>T | NCI-TCGA |
rs756593615 | p.Ala153Ser | missense variant | - | NC_000002.12:g.120349107G>T | ExAC,TOPMed,gnomAD |
rs756593615 | p.Ala153Thr | missense variant | - | NC_000002.12:g.120349107G>A | ExAC,TOPMed,gnomAD |
rs1202336188 | p.Ser154Ala | missense variant | - | NC_000002.12:g.120349110T>G | TOPMed |
rs779417932 | p.Arg156Gln | missense variant | - | NC_000002.12:g.120349117G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs757821876 | p.Arg156Trp | missense variant | - | NC_000002.12:g.120349116C>T | ExAC,TOPMed,gnomAD |
rs757821876 | p.Arg156Gly | missense variant | - | NC_000002.12:g.120349116C>G | ExAC,TOPMed,gnomAD |
rs779417932 | p.Arg156Gln | missense variant | - | NC_000002.12:g.120349117G>A | ExAC,TOPMed,gnomAD |
rs1295034640 | p.Val157Gly | missense variant | - | NC_000002.12:g.120349120T>G | gnomAD |
rs746505306 | p.Arg158Cys | missense variant | - | NC_000002.12:g.120349122C>T | ExAC,gnomAD |
rs768170550 | p.Arg158His | missense variant | - | NC_000002.12:g.120349123G>A | ExAC,TOPMed,gnomAD |
rs768170550 | p.Arg158His | missense variant | - | NC_000002.12:g.120349123G>A | NCI-TCGA Cosmic |
rs768170550 | p.Arg158Leu | missense variant | - | NC_000002.12:g.120349123G>T | ExAC,TOPMed,gnomAD |
rs746505306 | p.Arg158Cys | missense variant | - | NC_000002.12:g.120349122C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs1434306336 | p.Phe161Tyr | missense variant | - | NC_000002.12:g.120349132T>A | TOPMed,gnomAD |
rs527898067 | p.Phe162Ser | missense variant | - | NC_000002.12:g.120349135T>C | 1000Genomes,ExAC,gnomAD |
rs1339414880 | p.Ile163Val | missense variant | - | NC_000002.12:g.120349137A>G | TOPMed |
rs762936786 | p.Asn165Ser | missense variant | - | NC_000002.12:g.120349144A>G | ExAC,TOPMed,gnomAD |
rs774282504 | p.Glu166Lys | missense variant | - | NC_000002.12:g.120349146G>A | ExAC,gnomAD |
rs767587591 | p.Gly167Asp | missense variant | - | NC_000002.12:g.120349150G>A | ExAC,TOPMed,gnomAD |
rs759567914 | p.Gly167Ser | missense variant | - | NC_000002.12:g.120349149G>A | ExAC,gnomAD |
rs756397739 | p.Asn170Asp | missense variant | - | NC_000002.12:g.120349158A>G | ExAC,gnomAD |
rs967062614 | p.Leu171Pro | missense variant | - | NC_000002.12:g.120349162T>C | TOPMed |
rs764607634 | p.Phe172Leu | missense variant | - | NC_000002.12:g.120349166T>A | ExAC,gnomAD |
rs1189700671 | p.Val173Ala | missense variant | - | NC_000002.12:g.120349168T>C | TOPMed |
rs538498324 | p.Val174Ile | missense variant | - | NC_000002.12:g.120349170G>A | 1000Genomes,TOPMed |
rs754265018 | p.Trp179Ser | missense variant | - | NC_000002.12:g.120349186G>C | ExAC,gnomAD |
rs757627693 | p.Leu184Phe | missense variant | - | NC_000002.12:g.120349200C>T | ExAC,gnomAD |
rs779319802 | p.Leu185Arg | missense variant | - | NC_000002.12:g.120349204T>G | ExAC,gnomAD |
rs750891174 | p.Val188Ile | missense variant | - | NC_000002.12:g.120349212G>A | ExAC,gnomAD |
COSM1005983 | p.Gly192AlaPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000002.12:g.120349223G>- | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser193Asn | missense variant | - | NC_000002.12:g.120349228G>A | NCI-TCGA |
rs554007199 | p.Arg194Trp | missense variant | - | NC_000002.12:g.120349230C>T | ExAC,gnomAD |
rs769423198 | p.Arg194Gln | missense variant | - | NC_000002.12:g.120349231G>A | ExAC,TOPMed,gnomAD |
rs769423198 | p.Arg194Gln | missense variant | - | NC_000002.12:g.120349231G>A | NCI-TCGA |
rs554007199 | p.Arg194Trp | missense variant | - | NC_000002.12:g.120349230C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs777351329 | p.Arg195Trp | missense variant | - | NC_000002.12:g.120349233C>T | NCI-TCGA |
rs749091093 | p.Arg195Gln | missense variant | - | NC_000002.12:g.120349234G>A | ExAC,TOPMed,gnomAD |
rs777351329 | p.Arg195Trp | missense variant | - | NC_000002.12:g.120349233C>T | ExAC,TOPMed,gnomAD |
rs1209103585 | p.Lys196Met | missense variant | - | NC_000002.12:g.120349237A>T | TOPMed |
rs770722399 | p.Arg198Gly | missense variant | - | NC_000002.12:g.120349242C>G | ExAC,TOPMed,gnomAD |
rs201609499 | p.Arg198Gln | missense variant | - | NC_000002.12:g.120349243G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs770722399 | p.Arg198Trp | missense variant | - | NC_000002.12:g.120349242C>T | ExAC,TOPMed,gnomAD |
rs770722399 | p.Arg198Trp | missense variant | - | NC_000002.12:g.120349242C>T | NCI-TCGA |
rs759483459 | p.Lys200Glu | missense variant | - | NC_000002.12:g.120349248A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Val201Met | missense variant | - | NC_000002.12:g.120349251G>A | NCI-TCGA |
rs1229259197 | p.Val201Leu | missense variant | - | NC_000002.12:g.120349251G>C | TOPMed,gnomAD |
rs144330762 | p.Tyr202Cys | missense variant | - | NC_000002.12:g.120349255A>G | ESP,ExAC,TOPMed,gnomAD |
rs975677798 | p.Gln206Pro | missense variant | - | NC_000002.12:g.120349267A>C | TOPMed |
rs4328642 | p.His208Gln | missense variant | - | NC_000002.12:g.120349274C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1207428819 | p.His208Arg | missense variant | - | NC_000002.12:g.120349273A>G | gnomAD |
rs142763860 | p.Gly209Ser | missense variant | - | NC_000002.12:g.120349275G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1209979245 | p.Asp210Asn | missense variant | - | NC_000002.12:g.120349278G>A | TOPMed,gnomAD |
rs1255146313 | p.Trp212Gly | missense variant | - | NC_000002.12:g.120349284T>G | gnomAD |
rs370251196 | p.Asn213Lys | missense variant | - | NC_000002.12:g.120349289C>G | ESP,ExAC,TOPMed,gnomAD |
rs750934647 | p.Met214Val | missense variant | - | NC_000002.12:g.120349290A>G | ExAC,gnomAD |
COSM3565878 | p.Met214Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349292G>A | NCI-TCGA Cosmic |
rs1174813485 | p.Arg218Ser | missense variant | - | NC_000002.12:g.120349304G>C | gnomAD |
rs1047221496 | p.Arg218Lys | missense variant | - | NC_000002.12:g.120349303G>A | TOPMed |
rs1434647363 | p.Leu221Arg | missense variant | - | NC_000002.12:g.120349312T>G | gnomAD |
rs758941360 | p.Lys222Arg | missense variant | - | NC_000002.12:g.120349315A>G | ExAC,gnomAD |
rs755558554 | p.Arg223His | missense variant | - | NC_000002.12:g.120349318G>A | ExAC,gnomAD |
rs780625208 | p.Arg223Cys | missense variant | - | NC_000002.12:g.120349317C>T | ExAC,gnomAD |
rs755558554 | p.Arg223Leu | missense variant | - | NC_000002.12:g.120349318G>T | ExAC,gnomAD |
rs780625208 | p.Arg223Ser | missense variant | - | NC_000002.12:g.120349317C>A | ExAC,gnomAD |
rs780625208 | p.Arg223Cys | missense variant | - | NC_000002.12:g.120349317C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs965669603 | p.Ser224Gly | missense variant | - | NC_000002.12:g.120349320A>G | TOPMed |
rs1269321605 | p.Gly225Ser | missense variant | - | NC_000002.12:g.120349323G>A | TOPMed |
rs748893887 | p.His227Arg | missense variant | - | NC_000002.12:g.120349330A>G | ExAC,gnomAD |
COSM3565880 | p.Thr228Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349332A>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Pro230Ser | missense variant | - | NC_000002.12:g.120349338C>T | NCI-TCGA |
rs770683310 | p.Thr232Arg | missense variant | - | NC_000002.12:g.120349345C>G | ExAC,TOPMed,gnomAD |
rs770683310 | p.Thr232Met | missense variant | - | NC_000002.12:g.120349345C>T | ExAC,TOPMed,gnomAD |
rs770683310 | p.Thr232Met | missense variant | - | NC_000002.12:g.120349345C>T | NCI-TCGA |
rs1348423852 | p.Ala234Val | missense variant | - | NC_000002.12:g.120349351C>T | gnomAD |
rs760867489 | p.Gln236Arg | missense variant | - | NC_000002.12:g.120349357A>G | ExAC,gnomAD |
rs768807268 | p.Leu238Ser | missense variant | - | NC_000002.12:g.120349363T>C | ExAC,gnomAD |
COSM716025 | p.Leu238Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349362T>G | NCI-TCGA Cosmic |
rs1249448875 | p.Phe239Ser | missense variant | - | NC_000002.12:g.120349366T>C | gnomAD |
rs202216864 | p.Glu240Asp | missense variant | - | NC_000002.12:g.120349370G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs374594988 | p.Arg241Gln | missense variant | - | NC_000002.12:g.120349372G>A | ExAC,TOPMed,gnomAD |
rs762062674 | p.Arg241Trp | missense variant | - | NC_000002.12:g.120349371C>T | ExAC,gnomAD |
rs763171160 | p.Glu243Asp | missense variant | - | NC_000002.12:g.120349379G>C | ExAC,gnomAD |
rs147613754 | p.Arg244Gln | missense variant | - | NC_000002.12:g.120349381G>A | ESP,gnomAD |
rs1302307316 | p.Arg244Trp | missense variant | - | NC_000002.12:g.120349380C>T | gnomAD |
rs147613754 | p.Arg244Gln | missense variant | - | NC_000002.12:g.120349381G>A | NCI-TCGA |
NCI-TCGA novel | p.Arg245Ter | stop gained | - | NC_000002.12:g.120349383C>T | NCI-TCGA |
rs766879328 | p.Arg245Gln | missense variant | - | NC_000002.12:g.120349384G>A | ExAC,gnomAD |
rs755646306 | p.Asn247Asp | missense variant | - | NC_000002.12:g.120349389A>G | ExAC,gnomAD |
COSM4084540 | p.Asn247Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349390A>G | NCI-TCGA Cosmic |
rs143435725 | p.Asp249Glu | missense variant | - | NC_000002.12:g.120349397C>A | ESP,ExAC,TOPMed,gnomAD |
rs745676362 | p.Val250Leu | missense variant | - | NC_000002.12:g.120349398G>T | ExAC,TOPMed,gnomAD |
rs745676362 | p.Val250Met | missense variant | - | NC_000002.12:g.120349398G>A | ExAC,TOPMed,gnomAD |
rs767436546 | p.Gln251Lys | missense variant | - | NC_000002.12:g.120349401C>A | ExAC,TOPMed,gnomAD |
rs1301215368 | p.Gln251His | missense variant | - | NC_000002.12:g.120349403G>C | gnomAD |
rs746918678 | p.Asp253Gly | missense variant | - | NC_000002.12:g.120349408A>G | ExAC,gnomAD |
rs539269278 | p.Ser254Asn | missense variant | - | NC_000002.12:g.120349411G>A | 1000Genomes,ExAC,gnomAD |
rs148176831 | p.Glu257Lys | missense variant | - | NC_000002.12:g.120349419G>A | ESP,ExAC,TOPMed,gnomAD |
rs148176831 | p.Glu257Lys | missense variant | - | NC_000002.12:g.120349419G>A | NCI-TCGA |
rs1194122682 | p.Leu258Arg | missense variant | - | NC_000002.12:g.120349423T>G | TOPMed |
rs770068466 | p.Val260Met | missense variant | - | NC_000002.12:g.120349428G>A | ExAC,TOPMed,gnomAD |
rs770068466 | p.Val260Met | missense variant | - | NC_000002.12:g.120349428G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs142105758 | p.Val261Leu | missense variant | - | NC_000002.12:g.120349431G>T | ESP,ExAC,TOPMed,gnomAD |
rs1192284361 | p.Pro262Ser | missense variant | - | NC_000002.12:g.120349434C>T | gnomAD |
rs1316704448 | p.Pro262Leu | missense variant | - | NC_000002.12:g.120349435C>T | TOPMed,gnomAD |
rs1192284361 | p.Pro262Ser | missense variant | - | NC_000002.12:g.120349434C>T | NCI-TCGA |
NCI-TCGA novel | p.Val263Leu | missense variant | - | NC_000002.12:g.120349437G>T | NCI-TCGA |
rs774890593 | p.Phe264Leu | missense variant | - | NC_000002.12:g.120349442C>G | ExAC,TOPMed,gnomAD |
rs1343231594 | p.Phe264Ser | missense variant | - | NC_000002.12:g.120349441T>C | TOPMed |
rs760009603 | p.Val265Gly | missense variant | - | NC_000002.12:g.120349444T>G | ExAC,TOPMed,gnomAD |
rs760009603 | p.Val265Ala | missense variant | - | NC_000002.12:g.120349444T>C | ExAC,TOPMed,gnomAD |
rs753397591 | p.Pro267Thr | missense variant | - | NC_000002.12:g.120349449C>A | ExAC |
rs1444408843 | p.Gly268Ser | missense variant | - | NC_000002.12:g.120349452G>A | TOPMed |
rs752997062 | p.Gly268Asp | missense variant | - | NC_000002.12:g.120349453G>A | ExAC,TOPMed,gnomAD |
rs1459992323 | p.Glu269Gln | missense variant | - | NC_000002.12:g.120349455G>C | gnomAD |
rs904089802 | p.Glu270Lys | missense variant | - | NC_000002.12:g.120349458G>A | NCI-TCGA Cosmic |
rs904089802 | p.Glu270Lys | missense variant | - | NC_000002.12:g.120349458G>A | gnomAD |
rs1001095566 | p.Ser271Leu | missense variant | - | NC_000002.12:g.120349462C>T | TOPMed |
rs1001095566 | p.Ser271Leu | missense variant | - | NC_000002.12:g.120349462C>T | NCI-TCGA Cosmic |
rs747008552 | p.His272Gln | missense variant | - | NC_000002.12:g.120349466C>G | ExAC,gnomAD |
rs200288747 | p.His272Tyr | missense variant | - | NC_000002.12:g.120349464C>T | 1000Genomes,ExAC,gnomAD |
rs781217919 | p.Arg273Gln | missense variant | - | NC_000002.12:g.120349468G>A | ExAC,gnomAD |
rs781217919 | p.Arg273Gln | missense variant | - | NC_000002.12:g.120349468G>A | NCI-TCGA |
rs754953119 | p.Arg273Trp | missense variant | - | NC_000002.12:g.120349467C>T | ExAC,TOPMed,gnomAD |
rs569598198 | p.Val276Met | missense variant | - | NC_000002.12:g.120349476G>A | ExAC,TOPMed,gnomAD |
rs773509193 | p.Val278Met | missense variant | - | NC_000002.12:g.120349482G>A | ExAC,gnomAD |
rs542203870 | p.Gln279His | missense variant | - | NC_000002.12:g.120349487G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs144228850 | p.Arg281Trp | missense variant | - | NC_000002.12:g.120349491C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs144228850 | p.Arg281Gly | missense variant | - | NC_000002.12:g.120349491C>G | ESP,ExAC,TOPMed,gnomAD |
rs560571608 | p.Arg281Gln | missense variant | - | NC_000002.12:g.120349492G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs144228850 | p.Arg281Trp | missense variant | - | NC_000002.12:g.120349491C>T | ESP,ExAC,TOPMed,gnomAD |
rs560571608 | p.Arg281Gln | missense variant | - | NC_000002.12:g.120349492G>A | 1000Genomes,gnomAD |
rs774682024 | p.Leu282Pro | missense variant | - | NC_000002.12:g.120349495T>C | ExAC,gnomAD |
rs546435911 | p.Asp284Asn | missense variant | - | NC_000002.12:g.120349500G>A | 1000Genomes |
rs546435911 | p.Asp284Asn | missense variant | - | NC_000002.12:g.120349500G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs201621303 | p.Ser285Asn | missense variant | - | NC_000002.12:g.120349504G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.His287Arg | missense variant | - | NC_000002.12:g.120349510A>G | NCI-TCGA |
rs938023334 | p.Arg288Cys | missense variant | - | NC_000002.12:g.120349512C>T | NCI-TCGA |
rs1054158512 | p.Arg288His | missense variant | - | NC_000002.12:g.120349513G>A | NCI-TCGA Cosmic |
rs1054158512 | p.Arg288His | missense variant | - | NC_000002.12:g.120349513G>A | TOPMed |
rs938023334 | p.Arg288Cys | missense variant | - | NC_000002.12:g.120349512C>T | TOPMed,gnomAD |
rs1417490012 | p.Ile289Val | missense variant | - | NC_000002.12:g.120349515A>G | gnomAD |
rs1474349413 | p.Arg290His | missense variant | - | NC_000002.12:g.120349519G>A | TOPMed,gnomAD |
rs867394312 | p.Arg290Cys | missense variant | - | NC_000002.12:g.120349518C>T | NCI-TCGA Cosmic |
rs867394312 | p.Arg290Cys | missense variant | - | NC_000002.12:g.120349518C>T | - |
rs1472175416 | p.Arg292Gln | missense variant | - | NC_000002.12:g.120349525G>A | gnomAD |
rs761406590 | p.Asp297Asn | missense variant | - | NC_000002.12:g.120349539G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs761406590 | p.Asp297Asn | missense variant | - | NC_000002.12:g.120349539G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly298Asp | missense variant | - | NC_000002.12:g.120349543G>A | NCI-TCGA |
rs764629213 | p.Arg299Gln | missense variant | - | NC_000002.12:g.120349546G>A | NCI-TCGA |
rs867635709 | p.Arg299Trp | missense variant | - | NC_000002.12:g.120349545C>T | TOPMed,gnomAD |
rs764629213 | p.Arg299Gln | missense variant | - | NC_000002.12:g.120349546G>A | ExAC,gnomAD |
rs1313107093 | p.Gln307Pro | missense variant | - | NC_000002.12:g.120349570A>C | gnomAD |
rs766335999 | p.Phe309Ser | missense variant | - | NC_000002.12:g.120349576T>C | ExAC,gnomAD |
rs751413878 | p.Ile310Val | missense variant | - | NC_000002.12:g.120349578A>G | ExAC,TOPMed,gnomAD |
rs754755675 | p.Ile310Thr | missense variant | - | NC_000002.12:g.120349579T>C | ExAC,gnomAD |
rs1357534120 | p.Arg313Ser | missense variant | - | NC_000002.12:g.120349587C>A | TOPMed,gnomAD |
rs1317023671 | p.Arg313His | missense variant | - | NC_000002.12:g.120349588G>A | NCI-TCGA |
rs1317023671 | p.Arg313His | missense variant | - | NC_000002.12:g.120349588G>A | gnomAD |
rs1317023671 | p.Arg313Leu | missense variant | - | NC_000002.12:g.120349588G>T | gnomAD |
COSM3797901 | p.Arg313Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349588G>C | NCI-TCGA Cosmic |
rs756269241 | p.Gly316Ser | missense variant | - | NC_000002.12:g.120349596G>A | ExAC,gnomAD |
COSM4084543 | p.Trp317Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349599T>C | NCI-TCGA Cosmic |
rs61737545 | p.Asn318Lys | missense variant | - | NC_000002.12:g.120349604C>A | ExAC,TOPMed,gnomAD |
rs1257273235 | p.Asn318Ser | missense variant | - | NC_000002.12:g.120349603A>G | gnomAD |
rs777687482 | p.Asn318Asp | missense variant | - | NC_000002.12:g.120349602A>G | ExAC,gnomAD |
rs61737545 | p.Asn318Lys | missense variant | - | NC_000002.12:g.120349604C>G | ExAC,TOPMed,gnomAD |
rs771150890 | p.Trp320Arg | missense variant | - | NC_000002.12:g.120349608T>C | ExAC |
rs779036720 | p.Ile321Val | missense variant | - | NC_000002.12:g.120349611A>G | ExAC |
rs772370834 | p.Ala323Val | missense variant | - | NC_000002.12:g.120349618C>T | ExAC,gnomAD |
rs1418628487 | p.Thr325Pro | missense variant | - | NC_000002.12:g.120349623A>C | gnomAD |
rs17852732 | p.Gly326Ser | missense variant | - | NC_000002.12:g.120349626G>A | ESP,ExAC,TOPMed,gnomAD |
COSM4851081 | p.Tyr328Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349633A>G | NCI-TCGA Cosmic |
rs1475923662 | p.Gly329Arg | missense variant | - | NC_000002.12:g.120349635G>A | NCI-TCGA Cosmic |
rs1475923662 | p.Gly329Arg | missense variant | - | NC_000002.12:g.120349635G>A | TOPMed |
rs201508130 | p.Ser335Asn | missense variant | - | NC_000002.12:g.120349654G>A | 1000Genomes,ExAC,gnomAD |
rs762495009 | p.Pro337Ser | missense variant | - | NC_000002.12:g.120349659C>T | ExAC,gnomAD |
rs766134619 | p.Ala338Pro | missense variant | - | NC_000002.12:g.120349662G>C | ExAC,gnomAD |
rs375325463 | p.Gly342Glu | missense variant | - | NC_000002.12:g.120349675G>A | ESP |
rs1257723139 | p.Gly342Arg | missense variant | - | NC_000002.12:g.120349674G>A | TOPMed |
rs751219463 | p.Val343Phe | missense variant | - | NC_000002.12:g.120349677G>T | ExAC,gnomAD |
rs61737547 | p.Pro344Thr | missense variant | - | NC_000002.12:g.120349680C>A | TOPMed,gnomAD |
rs767197423 | p.Gly345Ser | missense variant | - | NC_000002.12:g.120349683G>A | ExAC,TOPMed,gnomAD |
rs777704323 | p.Thr352Lys | missense variant | - | NC_000002.12:g.120349705C>A | ExAC,TOPMed |
rs777704323 | p.Thr352Met | missense variant | - | NC_000002.12:g.120349705C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs777704323 | p.Thr352Met | missense variant | - | NC_000002.12:g.120349705C>T | ExAC,TOPMed |
rs756005419 | p.Thr352Ala | missense variant | - | NC_000002.12:g.120349704A>G | ExAC,gnomAD |
rs1175488673 | p.Ala353Val | missense variant | - | NC_000002.12:g.120349708C>T | gnomAD |
rs375362335 | p.Val354Leu | missense variant | - | NC_000002.12:g.120349710G>C | ESP,ExAC,TOPMed,gnomAD |
rs779126855 | p.Asn356Thr | missense variant | - | NC_000002.12:g.120349717A>C | ExAC,gnomAD |
rs1394221213 | p.Tyr358Cys | missense variant | - | NC_000002.12:g.120349723A>G | gnomAD |
rs371205927 | p.Arg359His | missense variant | - | NC_000002.12:g.120349726G>A | ESP,TOPMed,gnomAD |
rs746066693 | p.Met360Thr | missense variant | - | NC_000002.12:g.120349729T>C | ExAC,TOPMed,gnomAD |
rs200244553 | p.Met360Ile | missense variant | - | NC_000002.12:g.120349730G>A | 1000Genomes,ExAC,gnomAD |
COSM6087260 | p.Arg361Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349732G>T | NCI-TCGA Cosmic |
rs769057982 | p.Asn364Lys | missense variant | - | NC_000002.12:g.120349742C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Pro365His | missense variant | - | NC_000002.12:g.120349744C>A | NCI-TCGA |
rs1338075960 | p.Pro365Thr | missense variant | - | NC_000002.12:g.120349743C>A | TOPMed |
rs762584441 | p.Gly366Ser | missense variant | - | NC_000002.12:g.120349746G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs762584441 | p.Gly366Ser | missense variant | - | NC_000002.12:g.120349746G>A | ExAC,gnomAD |
rs770518408 | p.Gly366Val | missense variant | - | NC_000002.12:g.120349747G>T | ExAC,TOPMed,gnomAD |
rs770518408 | p.Gly366Asp | missense variant | - | NC_000002.12:g.120349747G>A | ExAC,TOPMed,gnomAD |
rs759235725 | p.Thr367Met | missense variant | - | NC_000002.12:g.120349750C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn369Lys | missense variant | - | NC_000002.12:g.120349757C>A | NCI-TCGA |
rs1202723026 | p.Thr375Ile | missense variant | - | NC_000002.12:g.120349774C>T | gnomAD |
rs1468996997 | p.Met380Ile | missense variant | - | NC_000002.12:g.120349790G>A | TOPMed,gnomAD |
rs1275085699 | p.Met380Val | missense variant | - | NC_000002.12:g.120349788A>G | gnomAD |
rs1194163692 | p.Met382Ile | missense variant | - | NC_000002.12:g.120349796G>A | gnomAD |
NCI-TCGA novel | p.Asp386Tyr | missense variant | - | NC_000002.12:g.120349806G>T | NCI-TCGA |
COSM1005985 | p.Asp387Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349810A>G | NCI-TCGA Cosmic |
COSM5072902 | p.Glu388Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349812G>A | NCI-TCGA Cosmic |
rs1427512441 | p.Ile391Val | missense variant | - | NC_000002.12:g.120349821A>G | gnomAD |
rs369911045 | p.Val392Ile | missense variant | - | NC_000002.12:g.120349824G>A | ESP,ExAC,TOPMed,gnomAD |
rs373528779 | p.Arg394Gln | missense variant | - | NC_000002.12:g.120349831G>A | ESP,TOPMed |
rs765268608 | p.Val396Met | missense variant | - | NC_000002.12:g.120349836G>A | ExAC,gnomAD |
rs765268608 | p.Val396Leu | missense variant | - | NC_000002.12:g.120349836G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Asn398Lys | missense variant | - | NC_000002.12:g.120349844C>A | NCI-TCGA |
rs1305975626 | p.Glu403Gln | missense variant | - | NC_000002.12:g.120349857G>C | TOPMed |
COSM3565886 | p.Glu403Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349857G>A | NCI-TCGA Cosmic |
rs747340870 | p.Gly405Ser | missense variant | - | NC_000002.12:g.120349863G>A | ExAC,gnomAD |
rs747340870 | p.Gly405Ser | missense variant | - | NC_000002.12:g.120349863G>A | NCI-TCGA |
NCI-TCGA novel | p.Ala407Val | missense variant | - | NC_000002.12:g.120349870C>T | NCI-TCGA |
rs781770753 | p.Ala407Thr | missense variant | - | NC_000002.12:g.120349869G>A | ExAC,TOPMed,gnomAD |
COSM6153562 | p.Ala407Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.120349869G>T | NCI-TCGA Cosmic |