rs769083925 | p.Pro3Ser | missense variant | - | NC_000001.11:g.228007135C>T | ExAC,gnomAD |
rs1369668727 | p.Leu4Pro | missense variant | - | NC_000001.11:g.228007139T>C | gnomAD |
rs1244397785 | p.Gly5Arg | missense variant | - | NC_000001.11:g.228007141G>C | gnomAD |
rs1219061838 | p.Leu10Phe | missense variant | - | NC_000001.11:g.228007156C>T | gnomAD |
rs773485951 | p.Ser12Asn | missense variant | - | NC_000001.11:g.228007163G>A | ExAC,gnomAD |
rs773485951 | p.Ser12Ile | missense variant | - | NC_000001.11:g.228007163G>T | ExAC,gnomAD |
rs747083898 | p.Ala16Thr | missense variant | - | NC_000001.11:g.228007174G>A | ExAC,gnomAD |
rs989317880 | p.Ala16Val | missense variant | - | NC_000001.11:g.228007175C>T | TOPMed,gnomAD |
rs747083898 | p.Ala16Ser | missense variant | - | NC_000001.11:g.228007174G>T | ExAC,gnomAD |
NCI-TCGA novel | p.Gly18Arg | missense variant | - | NC_000001.11:g.228007180G>C | NCI-TCGA |
rs771033634 | p.Ser19Asn | missense variant | - | NC_000001.11:g.228007184G>A | ExAC,gnomAD |
rs1314260795 | p.Ser19Cys | missense variant | - | NC_000001.11:g.228007183A>T | TOPMed |
rs532168900 | p.Ile22Met | missense variant | - | NC_000001.11:g.228007194C>G | 1000Genomes,ExAC,gnomAD |
rs745831522 | p.Ser25Leu | missense variant | - | NC_000001.11:g.228022669C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs745831522 | p.Ser25Trp | missense variant | - | NC_000001.11:g.228022669C>G | ExAC,gnomAD |
rs745831522 | p.Ser25Leu | missense variant | - | NC_000001.11:g.228022669C>T | ExAC,gnomAD |
COSM1962695 | p.Ala27Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228022675C>T | NCI-TCGA Cosmic |
COSM293041 | p.Val28Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228022678T>C | NCI-TCGA Cosmic |
rs192966556 | p.Pro30Leu | missense variant | - | NC_000001.11:g.228022684C>T | 1000Genomes,ExAC,gnomAD |
rs1329090456 | p.Pro30Ser | missense variant | - | NC_000001.11:g.228022683C>T | gnomAD |
rs1186454652 | p.Ser34Phe | missense variant | - | NC_000001.11:g.228022696C>T | gnomAD |
rs1354332166 | p.Gly36Asp | missense variant | - | NC_000001.11:g.228022702G>A | gnomAD |
rs761411292 | p.Ser37Leu | missense variant | - | NC_000001.11:g.228022705C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs761411292 | p.Ser37Leu | missense variant | - | NC_000001.11:g.228022705C>T | ExAC,TOPMed,gnomAD |
rs755569705 | p.Pro39Ser | missense variant | - | NC_000001.11:g.228022710C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs755569705 | p.Pro39Ser | missense variant | - | NC_000001.11:g.228022710C>T | ExAC |
rs1421075800 | p.Ser44Arg | missense variant | - | NC_000001.11:g.228022727C>A | gnomAD |
rs1156613570 | p.Pro46Leu | missense variant | - | NC_000001.11:g.228022732C>T | NCI-TCGA Cosmic |
rs1156613570 | p.Pro46Leu | missense variant | - | NC_000001.11:g.228022732C>T | TOPMed,gnomAD |
rs139491436 | p.Gly47Val | missense variant | - | NC_000001.11:g.228022735G>T | ESP |
NCI-TCGA novel | p.Pro50His | missense variant | - | NC_000001.11:g.228022744C>A | NCI-TCGA |
rs145797401 | p.Lys51Met | missense variant | - | NC_000001.11:g.228022747A>T | ESP,ExAC,TOPMed,gnomAD |
rs145797401 | p.Lys51Arg | missense variant | - | NC_000001.11:g.228022747A>G | ESP,ExAC,TOPMed,gnomAD |
rs1335028571 | p.Arg54His | missense variant | - | NC_000001.11:g.228022756G>A | NCI-TCGA Cosmic |
rs908046368 | p.Arg54Cys | missense variant | - | NC_000001.11:g.228022755C>T | TOPMed,gnomAD |
rs1335028571 | p.Arg54His | missense variant | - | NC_000001.11:g.228022756G>A | TOPMed |
rs908046368 | p.Arg54Cys | missense variant | - | NC_000001.11:g.228022755C>T | NCI-TCGA |
rs1442903743 | p.Arg57Lys | missense variant | - | NC_000001.11:g.228022765G>A | TOPMed |
rs1466538942 | p.Tyr59Phe | missense variant | - | NC_000001.11:g.228022771A>T | gnomAD |
rs199976080 | p.Val60Met | missense variant | - | NC_000001.11:g.228022773G>A | ExAC,TOPMed,gnomAD |
COSM3789572 | p.Glu61Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228022778G>T | NCI-TCGA Cosmic |
rs1399260520 | p.Ile62Val | missense variant | - | NC_000001.11:g.228022779A>G | gnomAD |
rs779941062 | p.Ile62Met | missense variant | - | NC_000001.11:g.228022781C>G | ExAC,gnomAD |
rs749172940 | p.Met63Thr | missense variant | - | NC_000001.11:g.228022783T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Pro64His | missense variant | - | NC_000001.11:g.228022786C>A | NCI-TCGA |
rs1324848850 | p.Pro64Ala | missense variant | - | NC_000001.11:g.228022785C>G | TOPMed |
NCI-TCGA novel | p.Ser65Arg | missense variant | - | NC_000001.11:g.228022790C>A | NCI-TCGA |
rs774063132 | p.Val66Leu | missense variant | - | NC_000001.11:g.228022791G>T | ExAC,TOPMed,gnomAD |
rs774063132 | p.Val66Met | missense variant | - | NC_000001.11:g.228022791G>A | ExAC,TOPMed,gnomAD |
rs548478697 | p.Glu68Lys | missense variant | - | NC_000001.11:g.228022797G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs548478697 | p.Glu68Lys | missense variant | - | NC_000001.11:g.228022797G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ile70Thr | missense variant | - | NC_000001.11:g.228022804T>C | NCI-TCGA |
COSM1339434 | p.Lys71Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228022807A>G | NCI-TCGA Cosmic |
rs760074981 | p.Ile72Ser | missense variant | - | NC_000001.11:g.228022810T>G | ExAC,gnomAD |
rs772847803 | p.Ile72Val | missense variant | - | NC_000001.11:g.228022809A>G | ExAC,TOPMed,gnomAD |
rs760074981 | p.Ile72Thr | missense variant | - | NC_000001.11:g.228022810T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Glu76Val | missense variant | - | NC_000001.11:g.228022822A>T | NCI-TCGA |
rs1346108878 | p.Glu76Ter | stop gained | - | NC_000001.11:g.228022821G>T | TOPMed,gnomAD |
rs1280235364 | p.Cys77Arg | missense variant | - | NC_000001.11:g.228022824T>C | gnomAD |
rs147742383 | p.His79Tyr | missense variant | - | NC_000001.11:g.228022830C>T | ESP,TOPMed |
rs142644449 | p.Arg82His | missense variant | - | NC_000001.11:g.228022840G>A | NCI-TCGA |
rs142644449 | p.Arg82His | missense variant | - | NC_000001.11:g.228022840G>A | ESP,ExAC,TOPMed,gnomAD |
rs753280205 | p.Arg82Cys | missense variant | - | NC_000001.11:g.228022839C>T | ExAC,gnomAD |
rs371989231 | p.Gly83Ser | missense variant | - | NC_000001.11:g.228022842G>A | ESP,ExAC,TOPMed,gnomAD |
rs750564361 | p.Arg84His | missense variant | - | NC_000001.11:g.228022846G>A | ExAC,gnomAD |
rs750564361 | p.Arg84His | missense variant | - | NC_000001.11:g.228022846G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs757565394 | p.Arg84Gly | missense variant | - | NC_000001.11:g.228022845C>G | ExAC,TOPMed,gnomAD |
rs757565394 | p.Arg84Cys | missense variant | - | NC_000001.11:g.228022845C>T | ExAC,TOPMed,gnomAD |
rs780065621 | p.Arg85Trp | missense variant | - | NC_000001.11:g.228022848C>T | NCI-TCGA |
rs780065621 | p.Arg85Trp | missense variant | - | NC_000001.11:g.228022848C>T | ExAC,gnomAD |
rs749224268 | p.Arg85Gln | missense variant | - | NC_000001.11:g.228022849G>A | ExAC,TOPMed,gnomAD |
COSM3484405 | p.Trp86Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000001.11:g.228022853G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Trp86Cys | missense variant | - | NC_000001.11:g.228022853G>T | NCI-TCGA |
NCI-TCGA novel | p.Trp86Ter | stop gained | - | NC_000001.11:g.228022852G>A | NCI-TCGA |
COSM6061613 | p.Asn87Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228022856C>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Thr90Ala | missense variant | - | NC_000001.11:g.228022863A>G | NCI-TCGA |
rs572229142 | p.Val91Ile | missense variant | - | NC_000001.11:g.228022866G>A | ExAC,TOPMed,gnomAD |
rs201274685 | p.Asp93Asn | missense variant | - | NC_000001.11:g.228022872G>A | ExAC,TOPMed,gnomAD |
rs760328956 | p.Leu95Gln | missense variant | - | NC_000001.11:g.228022879T>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala96Val | missense variant | - | NC_000001.11:g.228022882C>T | NCI-TCGA |
NCI-TCGA novel | p.Ala96Thr | missense variant | - | NC_000001.11:g.228022881G>A | NCI-TCGA |
rs371944998 | p.Ala96Ser | missense variant | - | NC_000001.11:g.228022881G>T | ESP,ExAC,TOPMed,gnomAD |
rs776215625 | p.Ile97Val | missense variant | - | NC_000001.11:g.228022884A>G | ExAC,TOPMed,gnomAD |
rs763611956 | p.Phe98Leu | missense variant | - | NC_000001.11:g.228022887T>C | ExAC,gnomAD |
rs762060880 | p.Pro100Leu | missense variant | - | NC_000001.11:g.228022894C>T | ExAC,gnomAD |
rs752010161 | p.Pro100Ser | missense variant | - | NC_000001.11:g.228022893C>T | ExAC,gnomAD |
rs756289627 | p.Val101Met | missense variant | - | NC_000001.11:g.228022896G>A | ExAC,TOPMed,gnomAD |
rs1444107117 | p.Glu108Asp | missense variant | - | NC_000001.11:g.228050666G>T | gnomAD |
rs752609956 | p.Ser109Leu | missense variant | - | NC_000001.11:g.228050668C>T | NCI-TCGA |
rs752609956 | p.Ser109Leu | missense variant | - | NC_000001.11:g.228050668C>T | ExAC,gnomAD |
rs1246405858 | p.Ala110Gly | missense variant | - | NC_000001.11:g.228050671C>G | gnomAD |
COSM6124808 | p.Phe111Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228050674T>G | NCI-TCGA Cosmic |
rs1416614180 | p.Phe111Ser | missense variant | - | NC_000001.11:g.228050674T>C | TOPMed |
COSM3484407 | p.His113Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228050679C>T | NCI-TCGA Cosmic |
rs757010599 | p.Ala114Thr | missense variant | - | NC_000001.11:g.228050682G>A | ExAC,TOPMed,gnomAD |
rs745466989 | p.Ile115Met | missense variant | - | NC_000001.11:g.228050687T>G | ExAC,TOPMed,gnomAD |
COSM6124806 | p.Ser117Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000001.11:g.228050692C>A | NCI-TCGA Cosmic |
rs753888521 | p.Gly119Asp | missense variant | - | NC_000001.11:g.228050698G>A | ExAC,gnomAD |
rs774995569 | p.Gly119Ser | missense variant | - | NC_000001.11:g.228050697G>A | ExAC,TOPMed,gnomAD |
rs1402544448 | p.Val120Met | missense variant | - | NC_000001.11:g.228050700G>A | gnomAD |
COSM6061611 | p.Ala121Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228050704C>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ala121Val | missense variant | - | NC_000001.11:g.228050704C>T | NCI-TCGA |
rs1243774748 | p.Val124Met | missense variant | - | NC_000001.11:g.228050712G>A | TOPMed |
rs1417726750 | p.Thr125Arg | missense variant | - | NC_000001.11:g.228050716C>G | gnomAD |
rs773519307 | p.Arg126Cys | missense variant | - | NC_000001.11:g.228050718C>T | NCI-TCGA |
rs370854032 | p.Arg126His | missense variant | - | NC_000001.11:g.228050719G>A | ESP,ExAC,TOPMed,gnomAD |
rs773519307 | p.Arg126Cys | missense variant | - | NC_000001.11:g.228050718C>T | ExAC,gnomAD |
rs766639977 | p.Ser127Leu | missense variant | - | NC_000001.11:g.228050722C>T | ExAC,TOPMed,gnomAD |
rs1297226194 | p.Cys128Arg | missense variant | - | NC_000001.11:g.228050724T>C | gnomAD |
rs1343957348 | p.Glu130Val | missense variant | - | NC_000001.11:g.228050731A>T | TOPMed |
rs776863772 | p.Thr132Met | missense variant | - | NC_000001.11:g.228050737C>T | NCI-TCGA |
rs150424650 | p.Thr132Ala | missense variant | - | NC_000001.11:g.228050736A>G | ESP,TOPMed |
rs776863772 | p.Thr132Lys | missense variant | - | NC_000001.11:g.228050737C>A | ExAC,TOPMed,gnomAD |
rs776863772 | p.Thr132Met | missense variant | - | NC_000001.11:g.228050737C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala133Val | missense variant | - | NC_000001.11:g.228050740C>T | NCI-TCGA |
rs61743220 | p.Ala134Thr | missense variant | - | NC_000001.11:g.228050742G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1259994744 | p.Cys138Trp | missense variant | - | NC_000001.11:g.228050756C>G | gnomAD |
rs149537631 | p.Ser140Asn | missense variant | - | NC_000001.11:g.228050761G>A | ESP,ExAC,TOPMed,gnomAD |
rs751360123 | p.Arg141Cys | missense variant | - | NC_000001.11:g.228050763C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs751360123 | p.Arg141Cys | missense variant | - | NC_000001.11:g.228050763C>T | ExAC,TOPMed,gnomAD |
rs148616293 | p.Arg141Leu | missense variant | - | NC_000001.11:g.228050764G>T | ESP,ExAC,TOPMed,gnomAD |
rs148616293 | p.Arg141Pro | missense variant | - | NC_000001.11:g.228050764G>C | ESP,ExAC,TOPMed,gnomAD |
rs148616293 | p.Arg141His | missense variant | - | NC_000001.11:g.228050764G>A | ESP,ExAC,TOPMed,gnomAD |
rs1484378284 | p.His142Asn | missense variant | - | NC_000001.11:g.228050766C>A | gnomAD |
rs1478227750 | p.Ser145Leu | missense variant | - | NC_000001.11:g.228050776C>T | gnomAD |
rs956380865 | p.Pro146Ala | missense variant | - | NC_000001.11:g.228050778C>G | TOPMed |
rs988241577 | p.Pro146Leu | missense variant | - | NC_000001.11:g.228050779C>T | TOPMed |
rs1196429845 | p.Gly147Asp | missense variant | - | NC_000001.11:g.228050782G>A | TOPMed,gnomAD |
rs779484095 | p.Lys148Met | missense variant | - | NC_000001.11:g.228050785A>T | ExAC |
rs866676661 | p.Lys148Asn | missense variant | - | NC_000001.11:g.228050786G>T | TOPMed |
rs748823923 | p.Lys151Arg | missense variant | - | NC_000001.11:g.228050794A>G | ExAC,gnomAD |
rs772499033 | p.Gly153Ser | missense variant | - | NC_000001.11:g.228050799G>A | ExAC,gnomAD |
rs1021976426 | p.Gly154Asp | missense variant | - | NC_000001.11:g.228050803G>A | TOPMed,gnomAD |
rs1467269448 | p.Ser156Arg | missense variant | - | NC_000001.11:g.228050810C>A | TOPMed,gnomAD |
COSM5106771 | p.Glu157Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228050813G>T | NCI-TCGA Cosmic |
rs778326387 | p.Glu157Lys | missense variant | - | NC_000001.11:g.228050811G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs778326387 | p.Glu157Lys | missense variant | - | NC_000001.11:g.228050811G>A | ExAC,TOPMed,gnomAD |
COSM4028840 | p.Asp158Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228050815A>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asp158His | missense variant | - | NC_000001.11:g.228050814G>C | NCI-TCGA |
rs1488574529 | p.Asp158Asn | missense variant | - | NC_000001.11:g.228050814G>A | NCI-TCGA |
rs1291558728 | p.Asp158Val | missense variant | - | NC_000001.11:g.228050815A>T | TOPMed |
rs1488574529 | p.Asp158Asn | missense variant | - | NC_000001.11:g.228050814G>A | TOPMed,gnomAD |
rs375627842 | p.Glu160Lys | missense variant | - | NC_000001.11:g.228050820G>A | NCI-TCGA |
rs375627842 | p.Glu160Lys | missense variant | - | NC_000001.11:g.228050820G>A | ESP,ExAC,TOPMed,gnomAD |
rs375627842 | p.Glu160Gln | missense variant | - | NC_000001.11:g.228050820G>C | ESP,ExAC,TOPMed,gnomAD |
rs759770474 | p.Gly163Arg | missense variant | - | NC_000001.11:g.228050829G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Met164Val | missense variant | - | NC_000001.11:g.228050832A>G | NCI-TCGA |
rs1003822634 | p.Met164Ile | missense variant | - | NC_000001.11:g.228050834G>A | TOPMed,gnomAD |
rs1003822634 | p.Met164Ile | missense variant | - | NC_000001.11:g.228050834G>C | TOPMed,gnomAD |
rs1352751814 | p.Val165Glu | missense variant | - | NC_000001.11:g.228050836T>A | TOPMed |
rs529067103 | p.Ser166Cys | missense variant | - | NC_000001.11:g.228050839C>G | ExAC,TOPMed,gnomAD |
rs775470850 | p.Arg167Trp | missense variant | - | NC_000001.11:g.228050841C>T | ExAC,TOPMed,gnomAD |
rs1208275108 | p.Arg167Gln | missense variant | - | NC_000001.11:g.228050842G>A | TOPMed,gnomAD |
rs1279931043 | p.Glu168Asp | missense variant | - | NC_000001.11:g.228050846G>C | gnomAD |
NCI-TCGA novel | p.Phe169Leu | missense variant | - | NC_000001.11:g.228050847T>C | NCI-TCGA |
rs141170201 | p.Phe169Leu | missense variant | - | NC_000001.11:g.228050849C>A | ESP,ExAC,TOPMed,gnomAD |
rs1218915358 | p.Ala170Thr | missense variant | - | NC_000001.11:g.228050850G>A | TOPMed,gnomAD |
rs1485828508 | p.Asp171Asn | missense variant | - | NC_000001.11:g.228050853G>A | NCI-TCGA Cosmic |
rs1485828508 | p.Asp171Asn | missense variant | - | NC_000001.11:g.228050853G>A | TOPMed,gnomAD |
rs61742275 | p.Asp171Glu | missense variant | - | NC_000001.11:g.228050855C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs761771501 | p.Ala172Thr | missense variant | - | NC_000001.11:g.228050856G>A | ExAC,TOPMed,gnomAD |
rs761771501 | p.Ala172Ser | missense variant | - | NC_000001.11:g.228050856G>T | ExAC,TOPMed,gnomAD |
rs767429545 | p.Arg173Trp | missense variant | - | NC_000001.11:g.228050859C>T | ExAC,TOPMed |
rs750227757 | p.Arg173Gln | missense variant | - | NC_000001.11:g.228050860G>A | ExAC,TOPMed,gnomAD |
rs750227757 | p.Arg173Leu | missense variant | - | NC_000001.11:g.228050860G>T | ExAC,TOPMed,gnomAD |
rs755786376 | p.Arg176Trp | missense variant | - | NC_000001.11:g.228050868C>T | ExAC,gnomAD |
rs779729203 | p.Arg176Gln | missense variant | - | NC_000001.11:g.228050869G>A | ExAC,TOPMed,gnomAD |
rs1229666623 | p.Pro177Leu | missense variant | - | NC_000001.11:g.228050872C>T | TOPMed |
NCI-TCGA novel | p.Pro177Ser | missense variant | - | NC_000001.11:g.228050871C>T | NCI-TCGA |
rs1343293977 | p.Asp178Gly | missense variant | - | NC_000001.11:g.228050875A>G | gnomAD |
NCI-TCGA novel | p.Ala179Val | missense variant | - | NC_000001.11:g.228050878C>T | NCI-TCGA |
rs753339916 | p.Ala179Gly | missense variant | - | NC_000001.11:g.228050878C>G | ExAC,gnomAD |
COSM4899749 | p.Arg180Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228050880C>T | NCI-TCGA Cosmic |
rs147719804 | p.Arg180His | missense variant | - | NC_000001.11:g.228050881G>A | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Ala182Val | missense variant | - | NC_000001.11:g.228050887C>T | NCI-TCGA |
rs1217311405 | p.Asn184Ser | missense variant | - | NC_000001.11:g.228050893A>G | TOPMed,gnomAD |
rs1217311405 | p.Asn184Thr | missense variant | - | NC_000001.11:g.228050893A>C | TOPMed,gnomAD |
rs778250375 | p.Arg185Cys | missense variant | - | NC_000001.11:g.228050895C>T | NCI-TCGA |
rs747520416 | p.Arg185His | missense variant | - | NC_000001.11:g.228050896G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs747520416 | p.Arg185His | missense variant | - | NC_000001.11:g.228050896G>A | ExAC,TOPMed,gnomAD |
rs778250375 | p.Arg185Cys | missense variant | - | NC_000001.11:g.228050895C>T | ExAC,gnomAD |
rs771369579 | p.Asn188Ser | missense variant | - | NC_000001.11:g.228050905A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Arg192Cys | missense variant | - | NC_000001.11:g.228050916C>T | NCI-TCGA |
rs746228586 | p.Arg192His | missense variant | - | NC_000001.11:g.228050917G>A | NCI-TCGA |
rs746228586 | p.Arg192His | missense variant | - | NC_000001.11:g.228050917G>A | ExAC,gnomAD |
rs769957066 | p.Gln193Ter | stop gained | - | NC_000001.11:g.228050919C>T | ExAC,gnomAD |
COSM4028844 | p.Ala196Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228058993C>T | NCI-TCGA Cosmic |
rs913365692 | p.Ala196Asp | missense variant | - | NC_000001.11:g.228058993C>A | gnomAD |
NCI-TCGA novel | p.Ser197Thr | missense variant | - | NC_000001.11:g.228058996G>C | NCI-TCGA |
rs1210134207 | p.Met199Thr | missense variant | - | NC_000001.11:g.228059002T>C | TOPMed,gnomAD |
rs752245358 | p.Met199Leu | missense variant | - | NC_000001.11:g.228059001A>C | ExAC,gnomAD |
rs757925292 | p.His200Asn | missense variant | - | NC_000001.11:g.228059004C>A | ExAC,TOPMed,gnomAD |
rs763552773 | p.Leu201Pro | missense variant | - | NC_000001.11:g.228059008T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Cys205Tyr | missense variant | - | NC_000001.11:g.228059020G>A | NCI-TCGA |
COSM1339435 | p.Gly207Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228059025G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser209Leu | missense variant | - | NC_000001.11:g.228059032C>T | NCI-TCGA |
NCI-TCGA novel | p.Gly210Ser | missense variant | - | NC_000001.11:g.228059034G>A | NCI-TCGA |
COSM5134716 | p.Glu213Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228059045G>T | NCI-TCGA Cosmic |
rs374568174 | p.Glu213Lys | missense variant | - | NC_000001.11:g.228059043G>A | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Trp218Arg | missense variant | - | NC_000001.11:g.228059058T>A | NCI-TCGA |
rs1478654890 | p.Trp218Arg | missense variant | - | NC_000001.11:g.228059058T>C | gnomAD |
rs756519375 | p.Trp219Arg | missense variant | - | NC_000001.11:g.228059061T>C | ExAC,TOPMed,gnomAD |
rs1415269833 | p.Trp219Cys | missense variant | - | NC_000001.11:g.228059063G>T | gnomAD |
rs780521544 | p.Trp219Ser | missense variant | - | NC_000001.11:g.228059062G>C | ExAC,gnomAD |
rs972949582 | p.Pro222Thr | missense variant | - | NC_000001.11:g.228059070C>A | TOPMed |
rs972949582 | p.Pro222Ala | missense variant | - | NC_000001.11:g.228059070C>G | TOPMed |
COSM464076 | p.Asp223Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228059073G>T | NCI-TCGA Cosmic |
rs749607111 | p.Asp223His | missense variant | - | NC_000001.11:g.228059073G>C | ExAC,gnomAD |
rs755288390 | p.Asp223Gly | missense variant | - | NC_000001.11:g.228059074A>G | ExAC,TOPMed,gnomAD |
rs779252848 | p.Ala226Thr | missense variant | - | NC_000001.11:g.228059082G>A | ExAC,gnomAD |
rs1306538398 | p.Ile227Met | missense variant | - | NC_000001.11:g.228059087C>G | TOPMed |
rs1279333399 | p.Gly228Arg | missense variant | - | NC_000001.11:g.228059088G>C | TOPMed,gnomAD |
rs1279333399 | p.Gly228Ser | missense variant | - | NC_000001.11:g.228059088G>A | TOPMed,gnomAD |
rs1279333399 | p.Gly228Cys | missense variant | - | NC_000001.11:g.228059088G>T | TOPMed,gnomAD |
rs528410256 | p.Asp229Tyr | missense variant | - | NC_000001.11:g.228059091G>T | 1000Genomes |
rs918805028 | p.Leu231Phe | missense variant | - | NC_000001.11:g.228059097C>T | TOPMed |
rs540131703 | p.Lys234Met | missense variant | - | NC_000001.11:g.228059107A>T | 1000Genomes,gnomAD |
rs748335041 | p.Lys234Glu | missense variant | - | NC_000001.11:g.228059106A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Tyr235Cys | missense variant | - | NC_000001.11:g.228059110A>G | NCI-TCGA |
rs773363110 | p.Asp236Gly | missense variant | - | NC_000001.11:g.228059113A>G | ExAC,gnomAD |
rs772312947 | p.Asp236Asn | missense variant | - | NC_000001.11:g.228059112G>A | ExAC,gnomAD |
rs148923278 | p.Ser237Arg | missense variant | - | NC_000001.11:g.228059115A>C | ESP,ExAC,TOPMed,gnomAD |
rs148923278 | p.Ser237Gly | missense variant | - | NC_000001.11:g.228059115A>G | ESP,ExAC,TOPMed,gnomAD |
rs759222295 | p.Ser239Leu | missense variant | - | NC_000001.11:g.228059122C>T | ExAC,gnomAD |
rs1372749020 | p.Met241Ile | missense variant | - | NC_000001.11:g.228059129G>T | TOPMed |
rs1489235025 | p.Arg247Trp | missense variant | - | NC_000001.11:g.228059145C>T | gnomAD |
rs1425651353 | p.Ser249Phe | missense variant | - | NC_000001.11:g.228059152C>T | TOPMed |
NCI-TCGA novel | p.Arg250His | missense variant | - | NC_000001.11:g.228059155G>A | NCI-TCGA |
rs1478273314 | p.Trp252Leu | missense variant | - | NC_000001.11:g.228059161G>T | gnomAD |
rs762526284 | p.Val253Leu | missense variant | - | NC_000001.11:g.228059163G>C | ExAC,gnomAD |
rs1393525016 | p.Glu254Asp | missense variant | - | NC_000001.11:g.228059168G>T | gnomAD |
rs1244824420 | p.Thr255Ile | missense variant | - | NC_000001.11:g.228059170C>T | TOPMed,gnomAD |
rs1434140543 | p.Pro258Ser | missense variant | - | NC_000001.11:g.228059178C>T | gnomAD |
rs763607191 | p.Pro258Leu | missense variant | - | NC_000001.11:g.228059179C>T | ExAC,gnomAD |
COSM4028846 | p.Arg259Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228059181C>T | NCI-TCGA Cosmic |
rs768601883 | p.Arg259Leu | missense variant | - | NC_000001.11:g.228059182G>T | gnomAD |
rs1318316656 | p.Thr261Pro | missense variant | - | NC_000001.11:g.228059187A>C | gnomAD |
rs761306494 | p.Tyr262Ser | missense variant | - | NC_000001.11:g.228059191A>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Phe263Leu | missense variant | - | NC_000001.11:g.228059195C>A | NCI-TCGA |
rs766763034 | p.Lys264Met | missense variant | - | NC_000001.11:g.228059197A>T | ExAC,gnomAD |
rs754274567 | p.Val265Met | missense variant | - | NC_000001.11:g.228059199G>A | ExAC,gnomAD |
rs755419088 | p.Pro266Leu | missense variant | - | NC_000001.11:g.228059203C>T | ExAC,gnomAD |
COSM4028848 | p.Thr267Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228059206C>T | NCI-TCGA Cosmic |
rs1286126766 | p.Thr267Ala | missense variant | - | NC_000001.11:g.228059205A>G | gnomAD |
rs1352290312 | p.Thr267Lys | missense variant | - | NC_000001.11:g.228059206C>A | gnomAD |
rs758639003 | p.Glu268Asp | missense variant | - | NC_000001.11:g.228059210G>T | ExAC,gnomAD |
rs1451915997 | p.Arg269Ser | missense variant | - | NC_000001.11:g.228059211C>A | gnomAD |
rs942761890 | p.Asp270Asn | missense variant | - | NC_000001.11:g.228059214G>A | TOPMed,gnomAD |
rs1200771051 | p.Val272Ile | missense variant | - | NC_000001.11:g.228059220G>A | gnomAD |
rs777968701 | p.Tyr273Phe | missense variant | - | NC_000001.11:g.228059224A>T | ExAC,gnomAD |
NCI-TCGA novel | p.Glu275Lys | missense variant | - | NC_000001.11:g.228059229G>A | NCI-TCGA |
rs770943239 | p.Ala276Asp | missense variant | - | NC_000001.11:g.228059233C>A | ExAC,TOPMed,gnomAD |
COSM6124800 | p.Ser277Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228059236C>T | NCI-TCGA Cosmic |
rs1451769077 | p.Pro278Ser | missense variant | - | NC_000001.11:g.228059238C>T | gnomAD |
rs1158471028 | p.Asn279Asp | missense variant | - | NC_000001.11:g.228059241A>G | gnomAD |
rs1392112871 | p.Glu282Lys | missense variant | - | NC_000001.11:g.228059250G>A | gnomAD |
NCI-TCGA novel | p.Pro283Leu | missense variant | - | NC_000001.11:g.228059254C>T | NCI-TCGA |
rs745763393 | p.Asn284Thr | missense variant | - | NC_000001.11:g.228059257A>C | ExAC,gnomAD |
rs1439692173 | p.Pro285His | missense variant | - | NC_000001.11:g.228059260C>A | gnomAD |
rs762651977 | p.Phe290Ser | missense variant | - | NC_000001.11:g.228059275T>C | ExAC,TOPMed,gnomAD |
rs890467543 | p.Gly291Arg | missense variant | - | NC_000001.11:g.228059277G>C | TOPMed |
COSM6045370 | p.Arg293Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.228059283C>T | NCI-TCGA Cosmic |
rs768290043 | p.Arg293His | missense variant | - | NC_000001.11:g.228059284G>A | ExAC,gnomAD |
rs1414615240 | p.Asp294Tyr | missense variant | - | NC_000001.11:g.228059286G>T | gnomAD |
rs1356967553 | p.Arg295His | missense variant | - | NC_000001.11:g.228059290G>A | gnomAD |
rs773948729 | p.Thr296Pro | missense variant | - | NC_000001.11:g.228059292A>C | ExAC,TOPMed,gnomAD |
rs1467916568 | p.Thr296Ile | missense variant | - | NC_000001.11:g.228059293C>T | gnomAD |
rs145403278 | p.Val299Ile | missense variant | - | NC_000001.11:g.228059301G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1349702366 | p.Val299Gly | missense variant | - | NC_000001.11:g.228059302T>G | gnomAD |
rs1019954452 | p.Ser300Asn | missense variant | - | NC_000001.11:g.228059305G>A | TOPMed,gnomAD |
rs767000954 | p.Ser300Arg | missense variant | - | NC_000001.11:g.228059306C>G | ExAC,gnomAD |
rs1181222661 | p.Ser301Ala | missense variant | - | NC_000001.11:g.228059307T>G | gnomAD |
rs1181222661 | p.Ser301Thr | missense variant | - | NC_000001.11:g.228059307T>A | gnomAD |
rs760055965 | p.His302Asp | missense variant | - | NC_000001.11:g.228059310C>G | ExAC,gnomAD |
rs765713241 | p.Gly303Ser | missense variant | - | NC_000001.11:g.228059313G>A | ExAC,gnomAD |
rs1394201325 | p.Ile304Val | missense variant | - | NC_000001.11:g.228059316A>G | TOPMed,gnomAD |
rs1459640996 | p.Gly306Arg | missense variant | - | NC_000001.11:g.228059322G>C | TOPMed |
rs1331586023 | p.Gly306Val | missense variant | - | NC_000001.11:g.228059323G>T | gnomAD |
rs1398220132 | p.Leu310Met | missense variant | - | NC_000001.11:g.228059334C>A | gnomAD |
rs902409625 | p.Gly313Arg | missense variant | - | NC_000001.11:g.228059343G>C | TOPMed,gnomAD |
rs902409625 | p.Gly313Ser | missense variant | - | NC_000001.11:g.228059343G>A | TOPMed,gnomAD |
rs1235051533 | p.Gly315Asp | missense variant | - | NC_000001.11:g.228059350G>A | gnomAD |
rs1000804649 | p.Ala318Pro | missense variant | - | NC_000001.11:g.228059358G>C | TOPMed,gnomAD |
rs1267785518 | p.Arg319Gln | missense variant | - | NC_000001.11:g.228059362G>A | TOPMed |
rs1199059579 | p.Glu321Gln | missense variant | - | NC_000001.11:g.228059367G>C | gnomAD |
rs1211326543 | p.Arg322Gln | missense variant | - | NC_000001.11:g.228059371G>A | TOPMed |
rs1211326543 | p.Arg322Gln | missense variant | - | NC_000001.11:g.228059371G>A | NCI-TCGA |
rs1339111495 | p.Arg322Gly | missense variant | - | NC_000001.11:g.228059370C>G | gnomAD |
rs1253254692 | p.Arg323His | missense variant | - | NC_000001.11:g.228059374G>A | gnomAD |
rs199932668 | p.Arg324Trp | missense variant | - | NC_000001.11:g.228059376C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs751711828 | p.Arg324Gln | missense variant | - | NC_000001.11:g.228059377G>A | ExAC,TOPMed,gnomAD |
rs199932668 | p.Arg324Gly | missense variant | - | NC_000001.11:g.228059376C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs751711828 | p.Arg324Leu | missense variant | - | NC_000001.11:g.228059377G>T | ExAC,TOPMed,gnomAD |
rs751711828 | p.Arg324Pro | missense variant | - | NC_000001.11:g.228059377G>C | ExAC,TOPMed,gnomAD |
rs1476266555 | p.Glu325Asp | missense variant | - | NC_000001.11:g.228059381G>T | TOPMed,gnomAD |
rs757311204 | p.Lys326Gln | missense variant | - | NC_000001.11:g.228059382A>C | ExAC,gnomAD |
rs745818320 | p.Arg328His | missense variant | - | NC_000001.11:g.228059389G>A | ExAC,TOPMed,gnomAD |
rs781265731 | p.Arg328Cys | missense variant | - | NC_000001.11:g.228059388C>T | ExAC,gnomAD |
rs781265731 | p.Arg328Gly | missense variant | - | NC_000001.11:g.228059388C>G | ExAC,gnomAD |
rs1173276571 | p.Cys329Arg | missense variant | - | NC_000001.11:g.228059391T>C | gnomAD |
rs779887551 | p.His332Leu | missense variant | - | NC_000001.11:g.228059401A>T | ExAC,TOPMed,gnomAD |
rs779887551 | p.His332Arg | missense variant | - | NC_000001.11:g.228059401A>G | ExAC,TOPMed,gnomAD |
rs1297319205 | p.Trp333Ter | stop gained | - | NC_000001.11:g.228059404G>A | gnomAD |
rs749047485 | p.Cys334Phe | missense variant | - | NC_000001.11:g.228059407G>T | ExAC |
rs1457857286 | p.Ser338Asn | missense variant | - | NC_000001.11:g.228059419G>A | TOPMed |
rs761489951 | p.Gln340Arg | missense variant | - | NC_000001.11:g.228059425A>G | ExAC,TOPMed,gnomAD |
rs772794103 | p.Glu341Gly | missense variant | - | NC_000001.11:g.228059428A>G | ExAC,TOPMed,gnomAD |
rs771490465 | p.Glu341Gln | missense variant | - | NC_000001.11:g.228059427G>C | ExAC,gnomAD |
rs375339690 | p.Val345Ile | missense variant | - | NC_000001.11:g.228059439G>A | NCI-TCGA |
rs1257348180 | p.Val345Ala | missense variant | - | NC_000001.11:g.228059440T>C | gnomAD |
rs375339690 | p.Val345Phe | missense variant | - | NC_000001.11:g.228059439G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs375339690 | p.Val345Ile | missense variant | - | NC_000001.11:g.228059439G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1488910356 | p.Asp347Glu | missense variant | - | NC_000001.11:g.228059447C>A | gnomAD |
rs776037564 | p.Val348Met | missense variant | - | NC_000001.11:g.228059448G>A | ExAC,gnomAD |
rs776037564 | p.Val348Leu | missense variant | - | NC_000001.11:g.228059448G>T | ExAC,gnomAD |
rs1428330715 | p.Thr350Ile | missense variant | - | NC_000001.11:g.228059455C>T | gnomAD |
rs763389055 | p.Lys352Arg | missense variant | - | NC_000001.11:g.228059461A>G | ExAC,TOPMed,gnomAD |