rs1340798671 | p.Leu2Met | missense variant | - | NC_000002.12:g.218860041C>A | TOPMed |
rs1199015326 | p.Pro3Thr | missense variant | - | NC_000002.12:g.218860044C>A | TOPMed,gnomAD |
rs1195489024 | p.Ser7Cys | missense variant | - | NC_000002.12:g.218860057C>G | TOPMed,gnomAD |
rs1424085664 | p.Arg8Cys | missense variant | - | NC_000002.12:g.218860059C>T | TOPMed,gnomAD |
rs1197189059 | p.Leu11Gln | missense variant | - | NC_000002.12:g.218860069T>A | TOPMed |
rs1392847695 | p.Leu13Pro | missense variant | - | NC_000002.12:g.218860075T>C | gnomAD |
rs1407136575 | p.Leu15Pro | missense variant | - | NC_000002.12:g.218860081T>C | gnomAD |
rs1440637041 | p.Leu16Phe | missense variant | - | NC_000002.12:g.218860083C>T | TOPMed,gnomAD |
rs1398389545 | p.Pro19Ser | missense variant | - | NC_000002.12:g.218860092C>T | gnomAD |
rs1369314126 | p.Ala20Val | missense variant | - | NC_000002.12:g.218860096C>T | gnomAD |
rs1031355350 | p.Gly23Asp | missense variant | - | NC_000002.12:g.218860105G>A | TOPMed |
rs1341507897 | p.Gly24Arg | missense variant | - | NC_000002.12:g.218860107G>C | gnomAD |
rs1359103727 | p.Trp26Ter | stop gained | - | NC_000002.12:g.218860115G>A | gnomAD |
rs1209872593 | p.Trp27Leu | missense variant | - | NC_000002.12:g.218860117G>T | gnomAD |
COSM3577819 | p.Trp27Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000002.12:g.218871027G>A | NCI-TCGA Cosmic |
rs780785339 | p.Val29Met | missense variant | - | NC_000002.12:g.218871031G>A | ExAC,gnomAD |
rs1181153824 | p.Pro32Leu | missense variant | - | NC_000002.12:g.218871041C>T | TOPMed |
rs145172448 | p.Leu33Phe | missense variant | - | NC_000002.12:g.218871045G>T | ESP,ExAC,gnomAD |
rs201489407 | p.Asp36Glu | missense variant | - | NC_000002.12:g.218871054C>A | ExAC,TOPMed,gnomAD |
rs201489407 | p.Asp36Glu | missense variant | - | NC_000002.12:g.218871054C>G | ExAC,TOPMed,gnomAD |
rs1301398523 | p.Pro37Thr | missense variant | - | NC_000002.12:g.218871055C>A | gnomAD |
rs769180401 | p.Pro37Leu | missense variant | - | NC_000002.12:g.218871056C>T | ExAC,gnomAD |
rs1301398523 | p.Pro37Ser | missense variant | - | NC_000002.12:g.218871055C>T | gnomAD |
rs1278580129 | p.Thr38Ile | missense variant | - | NC_000002.12:g.218871059C>T | TOPMed |
rs1485479603 | p.Thr38Ala | missense variant | - | NC_000002.12:g.218871058A>G | TOPMed |
rs1376891264 | p.Ser39Asn | missense variant | - | NC_000002.12:g.218871062G>A | TOPMed |
NCI-TCGA novel | p.Cys41Trp | missense variant | - | NC_000002.12:g.218871069C>G | NCI-TCGA |
rs772203707 | p.Lys43Glu | missense variant | - | NC_000002.12:g.218871073A>G | ExAC,TOPMed,gnomAD |
rs1241626877 | p.Ala44Val | missense variant | - | NC_000002.12:g.218871077C>T | gnomAD |
rs140352698 | p.Arg45Gln | missense variant | - | NC_000002.12:g.218871080G>A | ESP,ExAC,TOPMed,gnomAD |
rs773512750 | p.Arg45Trp | missense variant | - | NC_000002.12:g.218871079C>T | ExAC,TOPMed,gnomAD |
rs140352698 | p.Arg45Pro | missense variant | - | NC_000002.12:g.218871080G>C | ESP,ExAC,TOPMed,gnomAD |
rs200973144 | p.Arg46Gln | missense variant | - | NC_000002.12:g.218871083G>A | 1000Genomes,ExAC,gnomAD |
rs766635655 | p.Arg46Trp | missense variant | - | NC_000002.12:g.218871082C>T | ExAC,gnomAD |
rs1345449697 | p.Leu47Val | missense variant | - | NC_000002.12:g.218871085C>G | gnomAD |
rs751343972 | p.Arg50Trp | missense variant | - | NC_000002.12:g.218871094C>T | ExAC,TOPMed,gnomAD |
rs1432729218 | p.Arg50Gln | missense variant | - | NC_000002.12:g.218871095G>A | gnomAD |
rs1174212096 | p.Gln51His | missense variant | - | NC_000002.12:g.218871099G>T | gnomAD |
NCI-TCGA novel | p.Gln51Ter | stop gained | - | NC_000002.12:g.218871097C>T | NCI-TCGA |
NCI-TCGA novel | p.Gln51Leu | missense variant | - | NC_000002.12:g.218871098A>T | NCI-TCGA |
rs62193325 | p.Glu53Asp | missense variant | - | NC_000002.12:g.218871105G>C | TOPMed |
rs750141599 | p.Leu54Ser | missense variant | - | NC_000002.12:g.218871107T>C | ExAC,gnomAD |
rs1398691691 | p.Ala57Thr | missense variant | - | NC_000002.12:g.218871115G>A | gnomAD |
COSM4909936 | p.Ala57Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.218871115G>T | NCI-TCGA Cosmic |
rs1449661909 | p.Ala57Val | missense variant | - | NC_000002.12:g.218871116C>T | gnomAD |
rs755750604 | p.Val61Ala | missense variant | - | NC_000002.12:g.218871128T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Val62Ala | missense variant | - | NC_000002.12:g.218871131T>C | NCI-TCGA |
NCI-TCGA novel | p.Ala63Thr | missense variant | - | NC_000002.12:g.218871133G>A | NCI-TCGA |
rs779584695 | p.Glu64Lys | missense variant | - | NC_000002.12:g.218871136G>A | ExAC,gnomAD |
rs779584695 | p.Glu64Gln | missense variant | - | NC_000002.12:g.218871136G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Arg67Gln | missense variant | - | NC_000002.12:g.218871146G>A | NCI-TCGA |
rs142171369 | p.Arg70Trp | missense variant | - | NC_000002.12:g.218871154C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs142171369 | p.Arg70Gly | missense variant | - | NC_000002.12:g.218871154C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs769072287 | p.Arg70Gln | missense variant | - | NC_000002.12:g.218871155G>A | ExAC,TOPMed,gnomAD |
rs779424323 | p.Gly72Arg | missense variant | - | NC_000002.12:g.218871160G>A | ExAC,gnomAD |
rs748477624 | p.Gly72Ala | missense variant | - | NC_000002.12:g.218871161G>C | ExAC,TOPMed,gnomAD |
rs1199175142 | p.Val73Met | missense variant | - | NC_000002.12:g.218871163G>A | gnomAD |
rs772501701 | p.Arg74Pro | missense variant | - | NC_000002.12:g.218871167G>C | ExAC,gnomAD |
rs1272538134 | p.Arg74Ter | stop gained | - | NC_000002.12:g.218871166C>T | gnomAD |
rs773710947 | p.Glu75Gly | missense variant | - | NC_000002.12:g.218871170A>G | ExAC,gnomAD |
rs1160038499 | p.Cys76Phe | missense variant | - | NC_000002.12:g.218871173G>T | TOPMed |
rs761039722 | p.Phe80Leu | missense variant | - | NC_000002.12:g.218871184T>C | ExAC,gnomAD |
rs771256486 | p.Arg81Leu | missense variant | - | NC_000002.12:g.218871188G>T | ExAC,gnomAD |
COSM442329 | p.Arg81His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.218871188G>A | NCI-TCGA Cosmic |
rs375560904 | p.Arg83His | missense variant | - | NC_000002.12:g.218871194G>A | ESP,ExAC,TOPMed,gnomAD |
rs1056076691 | p.Arg83Cys | missense variant | - | NC_000002.12:g.218871193C>T | TOPMed |
rs140404341 | p.Arg84His | missense variant | - | NC_000002.12:g.218871197G>A | ESP,ExAC,gnomAD |
rs140404341 | p.Arg84Leu | missense variant | - | NC_000002.12:g.218871197G>T | ESP,ExAC,gnomAD |
rs1172007017 | p.Arg84Gly | missense variant | - | NC_000002.12:g.218871196C>G | gnomAD |
rs751445354 | p.Asn86Ile | missense variant | - | NC_000002.12:g.218871203A>T | ExAC |
rs761650162 | p.Cys87Ser | missense variant | - | NC_000002.12:g.218871206G>C | ExAC,gnomAD |
rs767357421 | p.Ser88Pro | missense variant | - | NC_000002.12:g.218871208T>C | ExAC,gnomAD |
rs750196516 | p.His90Asp | missense variant | - | NC_000002.12:g.218871214C>G | ExAC,gnomAD |
rs1275969767 | p.Lys92Asn | missense variant | - | NC_000002.12:g.218871222G>C | TOPMed,gnomAD |
rs1203845521 | p.Ala93Thr | missense variant | - | NC_000002.12:g.218871223G>A | TOPMed |
rs1342132970 | p.Gly95Arg | missense variant | - | NC_000002.12:g.218871229G>A | gnomAD |
rs1219050043 | p.Arg96Gly | missense variant | - | NC_000002.12:g.218871232C>G | TOPMed,gnomAD |
rs1269438985 | p.Arg96His | missense variant | - | NC_000002.12:g.218871233G>A | TOPMed |
rs779638051 | p.Gln100Leu | missense variant | - | NC_000002.12:g.218871245A>T | ExAC,TOPMed,gnomAD |
rs779638051 | p.Gln100Pro | missense variant | - | NC_000002.12:g.218871245A>C | ExAC,TOPMed,gnomAD |
rs753307256 | p.Asp101Asn | missense variant | - | NC_000002.12:g.218871247G>A | ExAC |
rs752129836 | p.Ile102Leu | missense variant | - | NC_000002.12:g.218871487A>C | ExAC,gnomAD |
rs1333199200 | p.Arg103Gln | missense variant | - | NC_000002.12:g.218871491G>A | gnomAD |
rs759013954 | p.Thr105Met | missense variant | - | NC_000002.12:g.218871497C>T | ExAC,TOPMed,gnomAD |
rs747402701 | p.Phe107Leu | missense variant | - | NC_000002.12:g.218871504C>A | ExAC,gnomAD |
rs749339350 | p.Ala110Ser | missense variant | - | NC_000002.12:g.218871511G>T | TOPMed,gnomAD |
rs1356049756 | p.Ala110Val | missense variant | - | NC_000002.12:g.218871512C>T | gnomAD |
rs781404768 | p.Ile111Met | missense variant | - | NC_000002.12:g.218871516C>G | ExAC,TOPMed,gnomAD |
rs894739463 | p.Thr112Ile | missense variant | - | NC_000002.12:g.218871518C>T | TOPMed,gnomAD |
rs200758649 | p.Ala116Pro | missense variant | - | NC_000002.12:g.218871529G>C | ExAC,gnomAD |
rs1176164524 | p.Ser117Thr | missense variant | - | NC_000002.12:g.218871533G>C | gnomAD |
rs1239483344 | p.Ala119Val | missense variant | - | NC_000002.12:g.218871539C>T | gnomAD |
rs1239483344 | p.Ala119Gly | missense variant | - | NC_000002.12:g.218871539C>G | gnomAD |
rs1310349406 | p.Ala119Ser | missense variant | - | NC_000002.12:g.218871538G>T | TOPMed |
rs1310349406 | p.Ala119Thr | missense variant | - | NC_000002.12:g.218871538G>A | TOPMed |
rs760465554 | p.Val120Phe | missense variant | - | NC_000002.12:g.218871541G>T | ExAC,gnomAD |
rs1422669348 | p.Thr121Lys | missense variant | - | NC_000002.12:g.218871545C>A | gnomAD |
rs766266841 | p.Cys124Gly | missense variant | - | NC_000002.12:g.218871553T>G | ExAC,gnomAD |
COSM3909614 | p.Ser125Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.218871557C>T | NCI-TCGA Cosmic |
rs1043210101 | p.Ser125Tyr | missense variant | - | NC_000002.12:g.218871557C>A | TOPMed |
rs1399409294 | p.Met126Thr | missense variant | - | NC_000002.12:g.218871560T>C | gnomAD |
rs759285421 | p.Met126Ile | missense variant | - | NC_000002.12:g.218871561G>C | ExAC,TOPMed,gnomAD |
rs759285421 | p.Met126Ile | missense variant | - | NC_000002.12:g.218871561G>A | ExAC,TOPMed,gnomAD |
rs776280458 | p.Met126Val | missense variant | - | NC_000002.12:g.218871559A>G | ExAC,gnomAD |
rs757934074 | p.Glu128Gly | missense variant | - | NC_000002.12:g.218871566A>G | ExAC,gnomAD |
rs752283594 | p.Glu128Lys | missense variant | - | NC_000002.12:g.218871565G>A | ExAC,TOPMed,gnomAD |
COSM73299 | p.Leu130Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.218871571C>A | NCI-TCGA Cosmic |
rs1264151347 | p.Gln131Pro | missense variant | - | NC_000002.12:g.218871575A>C | gnomAD |
rs997212826 | p.Gly133Val | missense variant | - | NC_000002.12:g.218871581G>T | TOPMed |
rs752176348 | p.Gly133Cys | missense variant | - | NC_000002.12:g.218871580G>T | ExAC,TOPMed,gnomAD |
rs757823920 | p.Ala136Glu | missense variant | - | NC_000002.12:g.218871590C>A | ExAC,gnomAD |
NCI-TCGA novel | p.Ala136Val | missense variant | - | NC_000002.12:g.218871590C>T | NCI-TCGA |
rs781657115 | p.Pro137Ser | missense variant | - | NC_000002.12:g.218871592C>T | ExAC,gnomAD |
rs1029048951 | p.Arg138Cys | missense variant | - | NC_000002.12:g.218871595C>T | TOPMed |
rs1244576079 | p.Gly139Arg | missense variant | - | NC_000002.12:g.218871598G>A | TOPMed,gnomAD |
rs1244576079 | p.Gly139Trp | missense variant | - | NC_000002.12:g.218871598G>T | TOPMed,gnomAD |
rs780086487 | p.Arg140Gln | missense variant | - | NC_000002.12:g.218871602G>A | ExAC,gnomAD |
rs1478825467 | p.Arg140Trp | missense variant | - | NC_000002.12:g.218871601C>T | TOPMed,gnomAD |
rs749380897 | p.Ala141Ser | missense variant | - | NC_000002.12:g.218871604G>T | ExAC,TOPMed,gnomAD |
rs749380897 | p.Ala141Thr | missense variant | - | NC_000002.12:g.218871604G>A | ExAC,TOPMed,gnomAD |
rs1445154539 | p.Pro142Ser | missense variant | - | NC_000002.12:g.218871607C>T | gnomAD |
rs1463926853 | p.Pro143Ala | missense variant | - | NC_000002.12:g.218871610C>G | TOPMed,gnomAD |
rs1463926853 | p.Pro143Ser | missense variant | - | NC_000002.12:g.218871610C>T | TOPMed,gnomAD |
rs1316298187 | p.Arg144Pro | missense variant | - | NC_000002.12:g.218871614G>C | TOPMed |
rs1172687654 | p.Arg144Trp | missense variant | - | NC_000002.12:g.218871613C>T | gnomAD |
rs768654253 | p.Pro145Ser | missense variant | - | NC_000002.12:g.218871616C>T | ExAC,gnomAD |
rs1266278571 | p.Gly147Asp | missense variant | - | NC_000002.12:g.218871623G>A | TOPMed |
rs757834664 | p.Leu148Gln | missense variant | - | NC_000002.12:g.218871626T>A | ExAC,TOPMed,gnomAD |
rs969854226 | p.Gly150Arg | missense variant | - | NC_000002.12:g.218871631G>C | TOPMed |
rs969854226 | p.Gly150Ser | missense variant | - | NC_000002.12:g.218871631G>A | TOPMed |
rs747009211 | p.Thr151Pro | missense variant | - | NC_000002.12:g.218871634A>C | ExAC,gnomAD |
rs375766200 | p.Thr151Ile | missense variant | - | NC_000002.12:g.218871635C>T | gnomAD |
rs770754878 | p.Pro152Thr | missense variant | - | NC_000002.12:g.218871637C>A | ExAC |
rs1223014604 | p.Pro154Thr | missense variant | - | NC_000002.12:g.218871643C>A | TOPMed,gnomAD |
rs1340294840 | p.Pro154Leu | missense variant | - | NC_000002.12:g.218871644C>T | gnomAD |
rs1223014604 | p.Pro154Ala | missense variant | - | NC_000002.12:g.218871643C>G | TOPMed,gnomAD |
rs141494427 | p.Pro155Arg | missense variant | - | NC_000002.12:g.218871647C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1430595816 | p.Pro155Ala | missense variant | - | NC_000002.12:g.218871646C>G | TOPMed |
rs759212149 | p.Gly156Val | missense variant | - | NC_000002.12:g.218871650G>T | ExAC,gnomAD |
rs1280629180 | p.Gly156Arg | missense variant | - | NC_000002.12:g.218871649G>C | gnomAD |
rs769509450 | p.Pro157His | missense variant | - | NC_000002.12:g.218871653C>A | ExAC,TOPMed,gnomAD |
rs769509450 | p.Pro157Leu | missense variant | - | NC_000002.12:g.218871653C>T | ExAC,TOPMed,gnomAD |
rs775227227 | p.Ala158Val | missense variant | - | NC_000002.12:g.218871656C>T | ExAC,TOPMed,gnomAD |
rs762558422 | p.Ser160Thr | missense variant | - | NC_000002.12:g.218871661T>A | ExAC,gnomAD |
rs763752944 | p.Pro161Ala | missense variant | - | NC_000002.12:g.218871664C>G | ExAC,gnomAD |
rs1351823154 | p.Pro161Leu | missense variant | - | NC_000002.12:g.218871665C>T | TOPMed,gnomAD |
rs375682009 | p.Gly163Asp | missense variant | - | NC_000002.12:g.218871671G>A | ESP,ExAC,TOPMed,gnomAD |
rs1373531426 | p.Ser164Arg | missense variant | - | NC_000002.12:g.218871675C>A | gnomAD |
rs767870771 | p.Ala165Thr | missense variant | - | NC_000002.12:g.218871676G>A | ExAC,TOPMed,gnomAD |
rs767870771 | p.Ala165Pro | missense variant | - | NC_000002.12:g.218871676G>C | ExAC,TOPMed,gnomAD |
rs371038367 | p.Ala166Thr | missense variant | - | NC_000002.12:g.218871679G>A | ESP,ExAC,TOPMed,gnomAD |
rs371038367 | p.Ala166Ser | missense variant | - | NC_000002.12:g.218871679G>T | ESP,ExAC,TOPMed,gnomAD |
COSM4091542 | p.Ala166Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.218871680C>T | NCI-TCGA Cosmic |
rs780325149 | p.Trp167Cys | missense variant | - | NC_000002.12:g.218871684G>C | ExAC,TOPMed,gnomAD |
rs780325149 | p.Trp167Ter | stop gained | - | NC_000002.12:g.218871684G>A | ExAC,TOPMed,gnomAD |
rs1246175923 | p.Glu168Gly | missense variant | - | NC_000002.12:g.218871686A>G | TOPMed |
rs754124545 | p.Trp169Leu | missense variant | - | NC_000002.12:g.218871689G>T | ExAC,TOPMed,gnomAD |
rs746914545 | p.Gly170Arg | missense variant | - | NC_000002.12:g.218871691G>A | ExAC,TOPMed,gnomAD |
rs746914545 | p.Gly170Arg | missense variant | - | NC_000002.12:g.218871691G>C | ExAC,TOPMed,gnomAD |
rs1242818101 | p.Gly173Ser | missense variant | - | NC_000002.12:g.218871700G>A | TOPMed |
rs1327465741 | p.Gly173Asp | missense variant | - | NC_000002.12:g.218871701G>A | gnomAD |
NCI-TCGA novel | p.Asp174Gly | missense variant | - | NC_000002.12:g.218871704A>G | NCI-TCGA |
NCI-TCGA novel | p.Asp174Asn | missense variant | - | NC_000002.12:g.218871703G>A | NCI-TCGA |
rs770932846 | p.Asp175His | missense variant | - | NC_000002.12:g.218871706G>C | ExAC,gnomAD |
rs1357809521 | p.Val176Leu | missense variant | - | NC_000002.12:g.218871709G>T | gnomAD |
rs1313845014 | p.Asp177Val | missense variant | - | NC_000002.12:g.218871713A>T | TOPMed |
rs1363628520 | p.Gly179Arg | missense variant | - | NC_000002.12:g.218871718G>C | TOPMed |
rs780946149 | p.Gly179Glu | missense variant | - | NC_000002.12:g.218871719G>A | ExAC,TOPMed,gnomAD |
rs745692608 | p.Glu181Lys | missense variant | - | NC_000002.12:g.218871724G>A | ExAC,TOPMed,gnomAD |
rs745692608 | p.Glu181Gln | missense variant | - | NC_000002.12:g.218871724G>C | ExAC,TOPMed,gnomAD |
rs1487121889 | p.Glu181Gly | missense variant | - | NC_000002.12:g.218871725A>G | gnomAD |
rs1262181701 | p.Ser183Ala | missense variant | - | NC_000002.12:g.218871730T>G | gnomAD |
rs1441690607 | p.Ser183Leu | missense variant | - | NC_000002.12:g.218871731C>T | gnomAD |
rs762741441 | p.Phe186Cys | missense variant | - | NC_000002.12:g.218871740T>G | ExAC,gnomAD |
rs768388767 | p.Ala189Ser | missense variant | - | NC_000002.12:g.218871748G>T | ExAC,gnomAD |
rs768388767 | p.Ala189Thr | missense variant | - | NC_000002.12:g.218871748G>A | ExAC,gnomAD |
rs761179896 | p.Arg190Trp | missense variant | - | NC_000002.12:g.218871751C>T | ExAC,TOPMed,gnomAD |
rs768082435 | p.Arg190Gln | missense variant | - | NC_000002.12:g.218871752G>A | ExAC,gnomAD |
rs928721796 | p.Lys192Arg | missense variant | - | NC_000002.12:g.218871758A>G | TOPMed |
rs371832438 | p.Arg193Gln | missense variant | - | NC_000002.12:g.218871761G>A | ESP,ExAC,TOPMed,gnomAD |
rs766789342 | p.Arg195His | missense variant | - | NC_000002.12:g.218871767G>A | ExAC,TOPMed,gnomAD |
rs766789342 | p.Arg195Pro | missense variant | - | NC_000002.12:g.218871767G>C | ExAC,TOPMed,gnomAD |
rs1208178990 | p.Gly196Arg | missense variant | - | NC_000002.12:g.218871769G>A | TOPMed |
rs149156287 | p.Arg199Cys | missense variant | - | NC_000002.12:g.218871778C>T | ESP,ExAC,gnomAD |
rs149156287 | p.Arg199Ser | missense variant | - | NC_000002.12:g.218871778C>A | ESP,ExAC,gnomAD |
rs1350974775 | p.Ala200Thr | missense variant | - | NC_000002.12:g.218871781G>A | gnomAD |
rs1350974775 | p.Ala200Ser | missense variant | - | NC_000002.12:g.218871781G>T | gnomAD |
rs1261019580 | p.Leu201Trp | missense variant | - | NC_000002.12:g.218871785T>G | gnomAD |
rs752801056 | p.Val202Leu | missense variant | - | NC_000002.12:g.218871787G>C | ExAC,gnomAD |
rs758355759 | p.Asn207Ser | missense variant | - | NC_000002.12:g.218871803A>G | ExAC,gnomAD |
rs781196612 | p.Ala209Thr | missense variant | - | NC_000002.12:g.218871808G>A | ExAC,gnomAD |
rs1237660450 | p.Gly210Ser | missense variant | - | NC_000002.12:g.218871811G>A | gnomAD |
rs758645392 | p.Val214Met | missense variant | - | NC_000002.12:g.218873387G>A | ExAC,gnomAD |
rs1344178652 | p.Arg215Gln | missense variant | - | NC_000002.12:g.218873391G>A | TOPMed |
rs542982949 | p.Arg215Trp | missense variant | - | NC_000002.12:g.218873390C>T | 1000Genomes,gnomAD |
rs1490609771 | p.Ser216Asn | missense variant | - | NC_000002.12:g.218873394G>A | gnomAD |
rs1422060201 | p.Glu221Lys | missense variant | - | NC_000002.12:g.218873408G>A | gnomAD |
rs1170468518 | p.Cys224Ser | missense variant | - | NC_000002.12:g.218873417T>A | gnomAD |
rs1367367634 | p.Cys224Tyr | missense variant | - | NC_000002.12:g.218873418G>A | gnomAD |
rs1455994673 | p.Gly226Arg | missense variant | - | NC_000002.12:g.218873423G>A | gnomAD |
rs1455994673 | p.Gly226Trp | missense variant | - | NC_000002.12:g.218873423G>T | gnomAD |
rs935852608 | p.Cys231Ter | stop gained | - | NC_000002.12:g.218873440C>A | TOPMed |
rs1052853628 | p.Ala232Thr | missense variant | - | NC_000002.12:g.218873441G>A | TOPMed,gnomAD |
rs1296116840 | p.Ala232Val | missense variant | - | NC_000002.12:g.218873442C>T | gnomAD |
rs1296116840 | p.Ala232Gly | missense variant | - | NC_000002.12:g.218873442C>G | gnomAD |
rs533712317 | p.Arg234Ser | missense variant | - | NC_000002.12:g.218873447C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1051611538 | p.Arg234His | missense variant | - | NC_000002.12:g.218873448G>A | TOPMed |
rs1312001134 | p.Trp237Ter | stop gained | - | NC_000002.12:g.218873457G>A | TOPMed,gnomAD |
rs933076369 | p.Gln238Pro | missense variant | - | NC_000002.12:g.218873460A>C | TOPMed,gnomAD |
rs933076369 | p.Gln238Arg | missense variant | - | NC_000002.12:g.218873460A>G | TOPMed,gnomAD |
rs1321166448 | p.Gln238Ter | stop gained | - | NC_000002.12:g.218873459C>T | gnomAD |
rs1490584103 | p.Arg244His | missense variant | - | NC_000002.12:g.218873478G>A | gnomAD |
rs1317949387 | p.Glu245Lys | missense variant | - | NC_000002.12:g.218873480G>A | TOPMed |
rs1289576821 | p.Val246Ala | missense variant | - | NC_000002.12:g.218873484T>C | TOPMed |
rs1261502638 | p.Gly247Asp | missense variant | - | NC_000002.12:g.218873487G>A | gnomAD |
rs1187613828 | p.Arg249Gln | missense variant | - | NC_000002.12:g.218873493G>A | gnomAD |
rs1256125666 | p.Leu251Pro | missense variant | - | NC_000002.12:g.218873499T>C | gnomAD |
rs1362160477 | p.Glu252Gln | missense variant | - | NC_000002.12:g.218873501G>C | TOPMed |
rs1007289265 | p.Glu252Gly | missense variant | - | NC_000002.12:g.218873502A>G | TOPMed |
rs1164962396 | p.Arg253Pro | missense variant | - | NC_000002.12:g.218873505G>C | TOPMed,gnomAD |
rs1164962396 | p.Arg253Leu | missense variant | - | NC_000002.12:g.218873505G>T | TOPMed,gnomAD |
rs1385396012 | p.His255Tyr | missense variant | - | NC_000002.12:g.218873510C>T | gnomAD |
rs1418728580 | p.Gly256Cys | missense variant | - | NC_000002.12:g.218873513G>T | TOPMed,gnomAD |
rs1418728580 | p.Gly256Ser | missense variant | - | NC_000002.12:g.218873513G>A | TOPMed,gnomAD |
rs1156519656 | p.Gly256Val | missense variant | - | NC_000002.12:g.218873514G>T | gnomAD |
rs1346740666 | p.Ala257Ser | missense variant | - | NC_000002.12:g.218873516G>T | gnomAD |
rs1302171406 | p.Arg259His | missense variant | - | NC_000002.12:g.218873523G>A | gnomAD |
rs1017221529 | p.Arg259Gly | missense variant | - | NC_000002.12:g.218873522C>G | TOPMed,gnomAD |
rs994352872 | p.Val260Ile | missense variant | - | NC_000002.12:g.218873525G>A | TOPMed,gnomAD |
rs1317262363 | p.Met261Leu | missense variant | - | NC_000002.12:g.218873528A>C | gnomAD |
rs1239684208 | p.Gly262Asp | missense variant | - | NC_000002.12:g.218873532G>A | gnomAD |
rs1360372895 | p.Gly262Ser | missense variant | - | NC_000002.12:g.218873531G>A | gnomAD |
rs1319077270 | p.Thr263Ser | missense variant | - | NC_000002.12:g.218873535C>G | gnomAD |
rs1255878884 | p.Asp265Asn | missense variant | - | NC_000002.12:g.218873540G>A | TOPMed,gnomAD |
rs1255878884 | p.Asp265His | missense variant | - | NC_000002.12:g.218873540G>C | TOPMed,gnomAD |
rs1482563216 | p.Gly266Ser | missense variant | - | NC_000002.12:g.218873543G>A | TOPMed,gnomAD |
rs1482563216 | p.Gly266Arg | missense variant | - | NC_000002.12:g.218873543G>C | TOPMed,gnomAD |
rs889980241 | p.Lys267Arg | missense variant | - | NC_000002.12:g.218873547A>G | TOPMed |
rs1243203754 | p.Ala268Val | missense variant | - | NC_000002.12:g.218873550C>T | gnomAD |
rs767256680 | p.Ala268Thr | missense variant | - | NC_000002.12:g.218873549G>A | TOPMed,gnomAD |
rs767256680 | p.Ala268Pro | missense variant | - | NC_000002.12:g.218873549G>C | TOPMed,gnomAD |
rs778846147 | p.Leu270Val | missense variant | - | NC_000002.12:g.218873555C>G | ExAC,gnomAD |
rs560783536 | p.Pro271Ser | missense variant | - | NC_000002.12:g.218873558C>T | 1000Genomes,ExAC,gnomAD |
rs771736077 | p.Ala272Ser | missense variant | - | NC_000002.12:g.218873561G>T | ExAC,gnomAD |
rs1486294656 | p.Arg274His | missense variant | - | NC_000002.12:g.218873568G>A | TOPMed |
rs1357292601 | p.Thr275Met | missense variant | - | NC_000002.12:g.218873571C>T | gnomAD |
rs1337379664 | p.Pro278Leu | missense variant | - | NC_000002.12:g.218873580C>T | gnomAD |
rs1383614639 | p.Pro279Leu | missense variant | - | NC_000002.12:g.218873583C>T | TOPMed,gnomAD |
rs1383614639 | p.Pro279Gln | missense variant | - | NC_000002.12:g.218873583C>A | TOPMed,gnomAD |
rs567728114 | p.Gly280Asp | missense variant | - | NC_000002.12:g.218873586G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs759901601 | p.Arg281Gln | missense variant | - | NC_000002.12:g.218873589G>A | ExAC,TOPMed,gnomAD |
rs759901601 | p.Arg281Leu | missense variant | - | NC_000002.12:g.218873589G>T | ExAC,TOPMed,gnomAD |
rs775911870 | p.Ala282Val | missense variant | - | NC_000002.12:g.218873592C>T | ExAC,gnomAD |
rs763122265 | p.Leu284Phe | missense variant | - | NC_000002.12:g.218873597C>T | ExAC,gnomAD |
rs1456913037 | p.Leu285Phe | missense variant | - | NC_000002.12:g.218873600C>T | gnomAD |
rs1456913037 | p.Leu285Ile | missense variant | - | NC_000002.12:g.218873600C>A | gnomAD |
rs1234218918 | p.Ala287Thr | missense variant | - | NC_000002.12:g.218873606G>A | gnomAD |
rs1408841347 | p.Ala287Val | missense variant | - | NC_000002.12:g.218873607C>T | TOPMed,gnomAD |
rs751610006 | p.Ala288Thr | missense variant | - | NC_000002.12:g.218873609G>A | ExAC,gnomAD |
rs751610006 | p.Ala288Ser | missense variant | - | NC_000002.12:g.218873609G>T | ExAC,gnomAD |
rs1422789669 | p.Ser290Leu | missense variant | - | NC_000002.12:g.218873616C>T | gnomAD |
rs935885236 | p.Pro291Arg | missense variant | - | NC_000002.12:g.218873619C>G | TOPMed,gnomAD |
rs753892359 | p.Asp292Tyr | missense variant | - | NC_000002.12:g.218873621G>T | ExAC,gnomAD |
rs754951141 | p.Ala295Ser | missense variant | - | NC_000002.12:g.218873630G>T | ExAC,gnomAD |
rs1356434597 | p.Ala295Val | missense variant | - | NC_000002.12:g.218873631C>T | gnomAD |
rs754951141 | p.Ala295Thr | missense variant | - | NC_000002.12:g.218873630G>A | ExAC,gnomAD |
rs1443183664 | p.Pro296Ser | missense variant | - | NC_000002.12:g.218873633C>T | gnomAD |
rs778620463 | p.Asn297Thr | missense variant | - | NC_000002.12:g.218873637A>C | ExAC,TOPMed,gnomAD |
rs778620463 | p.Asn297Ser | missense variant | - | NC_000002.12:g.218873637A>G | ExAC,TOPMed,gnomAD |
rs758018720 | p.Arg298Ter | stop gained | - | NC_000002.12:g.218873639C>T | ExAC,gnomAD |
rs777435419 | p.Arg298Gln | missense variant | - | NC_000002.12:g.218873640G>A | ExAC,TOPMed,gnomAD |
rs1317873348 | p.Arg299Cys | missense variant | - | NC_000002.12:g.218873642C>T | gnomAD |
rs1317873348 | p.Arg299Ser | missense variant | - | NC_000002.12:g.218873642C>A | gnomAD |
rs1212230501 | p.Arg299His | missense variant | - | NC_000002.12:g.218873643G>A | gnomAD |
rs1274520165 | p.Gly301Ser | missense variant | - | NC_000002.12:g.218873648G>A | gnomAD |
rs1274520165 | p.Gly301Cys | missense variant | - | NC_000002.12:g.218873648G>T | gnomAD |
COSM3909615 | p.Ser302Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.218873652C>T | NCI-TCGA Cosmic |
rs771206925 | p.Pro303Ala | missense variant | - | NC_000002.12:g.218873654C>G | TOPMed,gnomAD |
rs1199916860 | p.Thr305Met | missense variant | - | NC_000002.12:g.218873661C>T | gnomAD |
rs1034394582 | p.Arg306Cys | missense variant | - | NC_000002.12:g.218873663C>T | TOPMed,gnomAD |
rs1034394582 | p.Arg306Gly | missense variant | - | NC_000002.12:g.218873663C>G | TOPMed,gnomAD |
rs1481656337 | p.Gly307Ala | missense variant | - | NC_000002.12:g.218873667G>C | TOPMed |
COSM26563 | p.Gly307Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.218873666G>A | NCI-TCGA Cosmic |
rs745952229 | p.Arg308His | missense variant | - | NC_000002.12:g.218873670G>A | TOPMed,gnomAD |
rs1421733507 | p.Arg308Cys | missense variant | - | NC_000002.12:g.218873669C>T | TOPMed,gnomAD |
rs1421733507 | p.Arg308Ser | missense variant | - | NC_000002.12:g.218873669C>A | TOPMed,gnomAD |
rs1323115870 | p.Asn311Ser | missense variant | - | NC_000002.12:g.218873679A>G | gnomAD |
rs746435150 | p.Ser312Asn | missense variant | - | NC_000002.12:g.218873682G>A | ExAC,gnomAD |
rs770265789 | p.Ser312Arg | missense variant | - | NC_000002.12:g.218873683C>A | ExAC,TOPMed,gnomAD |
rs1340393231 | p.Ser313Thr | missense variant | - | NC_000002.12:g.218873685G>C | gnomAD |
rs1429223480 | p.Ala314Asp | missense variant | - | NC_000002.12:g.218873688C>A | gnomAD |
rs1249134400 | p.Ala314Ser | missense variant | - | NC_000002.12:g.218873687G>T | TOPMed |
rs1276802842 | p.Gly319Asp | missense variant | - | NC_000002.12:g.218873703G>A | gnomAD |
rs1227293965 | p.Cys320Arg | missense variant | - | NC_000002.12:g.218873705T>C | TOPMed,gnomAD |
rs1361151666 | p.Cys324Tyr | missense variant | - | NC_000002.12:g.218873718G>A | gnomAD |
rs768769875 | p.Cys325Trp | missense variant | - | NC_000002.12:g.218873722C>G | ExAC,gnomAD |
rs1262183703 | p.Gly326Ser | missense variant | - | NC_000002.12:g.218873723G>A | gnomAD |
rs1195199650 | p.Gly328Trp | missense variant | - | NC_000002.12:g.218873729G>T | TOPMed,gnomAD |
rs774566053 | p.Gly328Glu | missense variant | - | NC_000002.12:g.218873730G>A | ExAC,gnomAD |
rs1195199650 | p.Gly328Arg | missense variant | - | NC_000002.12:g.218873729G>A | TOPMed,gnomAD |
rs189995485 | p.Arg330His | missense variant | - | NC_000002.12:g.218873736G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1345871655 | p.Arg330Ser | missense variant | - | NC_000002.12:g.218873735C>A | gnomAD |
rs1426803969 | p.Glu332Lys | missense variant | - | NC_000002.12:g.218873741G>A | gnomAD |
rs767762590 | p.Ser333Asn | missense variant | - | NC_000002.12:g.218873745G>A | ExAC,gnomAD |
rs750505957 | p.Val334Met | missense variant | - | NC_000002.12:g.218873747G>A | ExAC,gnomAD |
rs759589107 | p.Glu337Gln | missense variant | - | NC_000002.12:g.218873756G>C | ExAC,gnomAD |
rs1446556962 | p.Glu338Asp | missense variant | - | NC_000002.12:g.218873761G>C | gnomAD |
rs914366914 | p.Glu338Lys | missense variant | - | NC_000002.12:g.218873759G>A | gnomAD |
COSM1306439 | p.Glu338Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.218873759G>C | NCI-TCGA Cosmic |
rs1390772760 | p.Cys340Ter | stop gained | - | NC_000002.12:g.218873767C>A | TOPMed |
rs1312291344 | p.Cys340Tyr | missense variant | - | NC_000002.12:g.218873766G>A | gnomAD |
rs1246249807 | p.Arg343Ser | missense variant | - | NC_000002.12:g.218873774C>A | gnomAD |
rs1246249807 | p.Arg343Cys | missense variant | - | NC_000002.12:g.218873774C>T | gnomAD |
rs1284914451 | p.Arg343Leu | missense variant | - | NC_000002.12:g.218873775G>T | gnomAD |
rs1206695898 | p.Phe344Leu | missense variant | - | NC_000002.12:g.218873777T>C | gnomAD |
rs1038351907 | p.His345Arg | missense variant | - | NC_000002.12:g.218873781A>G | TOPMed |
rs977335454 | p.Val349Ile | missense variant | - | NC_000002.12:g.218873792G>A | TOPMed,gnomAD |
rs977335454 | p.Val349Leu | missense variant | - | NC_000002.12:g.218873792G>T | TOPMed,gnomAD |
rs1174611058 | p.Val350Ala | missense variant | - | NC_000002.12:g.218873796T>C | TOPMed |
rs1471058472 | p.Gln351Arg | missense variant | - | NC_000002.12:g.218873799A>G | TOPMed |
rs752458659 | p.Gln351His | missense variant | - | NC_000002.12:g.218873800G>C | ExAC,gnomAD |
rs758154086 | p.Arg356His | missense variant | - | NC_000002.12:g.218873814G>A | ExAC,gnomAD |
COSM73300 | p.Arg356Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000002.12:g.218873813C>T | NCI-TCGA Cosmic |
rs1446593576 | p.Arg358Leu | missense variant | - | NC_000002.12:g.218873820G>T | gnomAD |
rs548768289 | p.Leu361Phe | missense variant | - | NC_000002.12:g.218873828C>T | gnomAD |
rs1363491561 | p.Leu363Phe | missense variant | - | NC_000002.12:g.218873834C>T | gnomAD |
rs1452023449 | p.Cys364Arg | missense variant | - | NC_000002.12:g.218873837T>C | gnomAD |