rs199671312 | p.Trp2Ser | missense variant | - | NC_000005.10:g.44388678C>G | - |
rs1347979233 | p.Trp2Cys | missense variant | - | NC_000005.10:g.44388677C>A | gnomAD |
rs1441196548 | p.Ile5Thr | missense variant | - | NC_000005.10:g.44388669A>G | TOPMed |
COSM3855396 | p.Ile5Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44388669A>C | NCI-TCGA Cosmic |
rs201659493 | p.Leu6Pro | missense variant | - | NC_000005.10:g.44388666A>G | gnomAD |
rs747476439 | p.Leu6Val | missense variant | - | NC_000005.10:g.44388667G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Leu6Met | missense variant | - | NC_000005.10:g.44388667G>T | NCI-TCGA |
rs200886626 | p.Thr7Ile | missense variant | - | NC_000005.10:g.44388663G>A | ExAC,gnomAD |
rs1402567148 | p.Ala10Val | missense variant | - | NC_000005.10:g.44388654G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser11Ter | stop gained | - | NC_000005.10:g.44388651G>C | NCI-TCGA |
rs148032639 | p.Pro14Leu | missense variant | - | NC_000005.10:g.44388642G>A | ESP,ExAC,TOPMed,gnomAD |
rs754826334 | p.Pro14Ser | missense variant | - | NC_000005.10:g.44388643G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu16Gln | missense variant | - | NC_000005.10:g.44388636A>T | NCI-TCGA |
rs374755098 | p.Pro17Thr | missense variant | - | NC_000005.10:g.44388634G>T | ESP,ExAC,gnomAD |
rs374755098 | p.Pro17Ser | missense variant | - | NC_000005.10:g.44388634G>A | ESP,ExAC,gnomAD |
rs766989043 | p.Gly18Ser | missense variant | - | NC_000005.10:g.44388631C>T | ExAC,TOPMed,gnomAD |
rs766989043 | p.Gly18Cys | missense variant | - | NC_000005.10:g.44388631C>A | ExAC,TOPMed,gnomAD |
rs201408864 | p.Gly18Val | missense variant | - | NC_000005.10:g.44388630C>A | gnomAD |
rs761359401 | p.Cys19Gly | missense variant | - | NC_000005.10:g.44388628A>C | ExAC,TOPMed,gnomAD |
rs1272336613 | p.Cys21Tyr | missense variant | - | NC_000005.10:g.44388621C>T | gnomAD |
rs200247528 | p.Cys22Arg | missense variant | - | NC_000005.10:g.44388619A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu26Trp | missense variant | - | NC_000005.10:g.44388606A>C | NCI-TCGA |
NCI-TCGA novel | p.Leu27Met | missense variant | - | NC_000005.10:g.44388604G>T | NCI-TCGA |
rs199806461 | p.Phe28Leu | missense variant | - | NC_000005.10:g.44388599G>T | - |
NCI-TCGA novel | p.Leu29Trp | missense variant | - | NC_000005.10:g.44388597A>C | NCI-TCGA |
rs1284421241 | p.Val30Met | missense variant | - | NC_000005.10:g.44388595C>T | gnomAD |
rs1223515236 | p.Val30Ala | missense variant | - | NC_000005.10:g.44388594A>G | gnomAD |
rs762625065 | p.Ser31Thr | missense variant | - | NC_000005.10:g.44388592A>T | ExAC,gnomAD |
COSM1068457 | p.Ser31Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44388591G>A | NCI-TCGA Cosmic |
rs145373611 | p.Val33Ile | missense variant | - | NC_000005.10:g.44388586C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1007631855 | p.Val35Ala | missense variant | - | NC_000005.10:g.44388579A>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Thr36Ser | missense variant | - | NC_000005.10:g.44388576G>C | NCI-TCGA |
NCI-TCGA novel | p.Cys37Tyr | missense variant | - | NC_000005.10:g.44388573C>T | NCI-TCGA |
rs201790067 | p.Ala39Val | missense variant | - | NC_000005.10:g.44388567G>A | ExAC,gnomAD |
rs146669375 | p.Leu40Phe | missense variant | - | NC_000005.10:g.44388565G>A | ESP,ExAC,TOPMed,gnomAD |
rs146669375 | p.Leu40Val | missense variant | - | NC_000005.10:g.44388565G>C | ESP,ExAC,TOPMed,gnomAD |
COSM1496129 | p.Leu40Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44388565G>T | NCI-TCGA Cosmic |
rs772109862 | p.Gly41Asp | missense variant | - | NC_000005.10:g.44388561C>T | ExAC,TOPMed,gnomAD |
rs1429390732 | p.Gln42Leu | missense variant | - | NC_000005.10:g.44388558T>A | gnomAD |
rs1409855200 | p.Asp43Gly | missense variant | - | NC_000005.10:g.44388555T>C | TOPMed,gnomAD |
rs778802173 | p.Asp43Asn | missense variant | - | NC_000005.10:g.44388556C>T | ExAC,TOPMed,gnomAD |
rs778802173 | p.Asp43Tyr | missense variant | - | NC_000005.10:g.44388556C>A | ExAC,TOPMed,gnomAD |
rs779848984 | p.Met44Thr | missense variant | - | NC_000005.10:g.44388552A>G | ExAC,gnomAD |
rs201168313 | p.Met44Val | missense variant | - | NC_000005.10:g.44388553T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs201168313 | p.Met44Leu | missense variant | - | NC_000005.10:g.44388553T>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1232465320 | p.Val45Glu | missense variant | - | NC_000005.10:g.44388549A>T | TOPMed,gnomAD |
rs750371676 | p.Ser46Leu | missense variant | - | NC_000005.10:g.44388546G>A | ExAC,gnomAD |
rs527933059 | p.Pro47Ser | missense variant | - | NC_000005.10:g.44388544G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs751081612 | p.Ala49Val | missense variant | - | NC_000005.10:g.44388537G>A | ExAC,gnomAD |
rs751081612 | p.Ala49Gly | missense variant | - | NC_000005.10:g.44388537G>C | ExAC,gnomAD |
rs751081612 | p.Ala49Asp | missense variant | - | NC_000005.10:g.44388537G>T | ExAC,gnomAD |
NCI-TCGA novel | p.Ala49Thr | missense variant | - | NC_000005.10:g.44388538C>T | NCI-TCGA |
rs144567587 | p.Thr50Ser | missense variant | - | NC_000005.10:g.44388535T>A | ESP,ExAC,TOPMed,gnomAD |
rs775259892 | p.Ser52Tyr | missense variant | - | NC_000005.10:g.44388528G>T | ExAC,TOPMed,gnomAD |
rs762714965 | p.Ser52Thr | missense variant | - | NC_000005.10:g.44388529A>T | ExAC,gnomAD |
rs775259892 | p.Ser52Cys | missense variant | - | NC_000005.10:g.44388528G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser53Pro | missense variant | - | NC_000005.10:g.44388526A>G | NCI-TCGA |
NCI-TCGA novel | p.Ser54Phe | missense variant | - | NC_000005.10:g.44388522G>A | NCI-TCGA |
COSM3616762 | p.Ser55Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44388519G>A | NCI-TCGA Cosmic |
rs773650137 | p.Phe57Leu | missense variant | - | NC_000005.10:g.44388512G>C | ExAC,gnomAD |
rs761116992 | p.Phe57Val | missense variant | - | NC_000005.10:g.44388514A>C | ExAC,gnomAD |
rs1462552463 | p.Ser58Tyr | missense variant | - | NC_000005.10:g.44388510G>T | TOPMed |
rs201038841 | p.Ser59Phe | missense variant | - | NC_000005.10:g.44388507G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser59Tyr | missense variant | - | NC_000005.10:g.44388507G>T | NCI-TCGA |
rs199850745 | p.Pro60Arg | missense variant | - | NC_000005.10:g.44388504G>C | TOPMed |
rs199850745 | p.Pro60His | missense variant | - | NC_000005.10:g.44388504G>T | TOPMed |
NCI-TCGA novel | p.Pro60Thr | missense variant | - | NC_000005.10:g.44388505G>T | NCI-TCGA |
rs774523215 | p.Ser61Phe | missense variant | - | NC_000005.10:g.44388501G>A | ExAC,TOPMed,gnomAD |
rs774523215 | p.Ser61Cys | missense variant | - | NC_000005.10:g.44388501G>C | ExAC,TOPMed,gnomAD |
rs886060654 | p.Ser62Arg | missense variant | - | NC_000005.10:g.44388497G>T | gnomAD |
rs898009871 | p.Ser62Gly | missense variant | - | NC_000005.10:g.44388499T>C | TOPMed,gnomAD |
rs886060654 | p.Ser62Arg | missense variant | - | NC_000005.10:g.44388497G>C | gnomAD |
NCI-TCGA novel | p.Ser62Asn | missense variant | - | NC_000005.10:g.44388498C>T | NCI-TCGA |
rs201676495 | p.Gly64Val | missense variant | - | NC_000005.10:g.44388492C>A | ExAC,TOPMed,gnomAD |
rs1446723373 | p.Gly64Arg | missense variant | - | NC_000005.10:g.44388493C>T | gnomAD |
rs1203071781 | p.Arg65Ser | missense variant | - | NC_000005.10:g.44388488C>A | gnomAD |
rs562084259 | p.His66Tyr | missense variant | - | NC_000005.10:g.44388487G>A | 1000Genomes |
COSM1437687 | p.Arg68Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44388480C>T | NCI-TCGA Cosmic |
rs780222015 | p.Ser69Asn | missense variant | - | NC_000005.10:g.44388477C>T | ExAC,gnomAD |
rs541818263 | p.Asn71Ser | missense variant | - | NC_000005.10:g.44388471T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs745684641 | p.His72Tyr | missense variant | - | NC_000005.10:g.44388469G>A | ExAC,gnomAD |
rs199689272 | p.Asp76Glu | missense variant | - | NC_000005.10:g.44388455A>T | 1000Genomes,ExAC |
COSM3855394 | p.Trp79Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44388448A>C | NCI-TCGA Cosmic |
rs104893888 | p.Arg80Ser | missense variant | - | NC_000005.10:g.44388443T>G | TOPMed |
COSM1437686 | p.Arg80Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44388444C>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Leu82Ile | missense variant | - | NC_000005.10:g.44388439G>T | NCI-TCGA |
NCI-TCGA novel | p.Ser84PhePheSerTerUnk | frameshift | - | NC_000005.10:g.44388431_44388432AG>- | NCI-TCGA |
COSM449707 | p.Thr86Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44388426G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Lys87Asn | missense variant | - | NC_000005.10:g.44388422C>A | NCI-TCGA |
NCI-TCGA novel | p.Tyr88ThrPheSerTerUnkUnk | frameshift | - | NC_000005.10:g.44388421A>- | NCI-TCGA |
rs757950282 | p.Leu90Val | missense variant | - | NC_000005.10:g.44388415G>C | ExAC,gnomAD |
COSM3429485 | p.Leu90Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44388415G>T | NCI-TCGA Cosmic |
rs752464185 | p.Lys91Arg | missense variant | - | NC_000005.10:g.44388411T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Ile92Met | missense variant | - | NC_000005.10:g.44388407A>C | NCI-TCGA |
rs1258016531 | p.Glu93Val | missense variant | - | NC_000005.10:g.44388405T>A | TOPMed |
COSM6171277 | p.Glu93Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44388404C>G | NCI-TCGA Cosmic |
rs1363470725 | p.Asn95Lys | missense variant | - | NC_000005.10:g.44388398G>C | gnomAD |
rs1274894561 | p.Lys97Glu | missense variant | - | NC_000005.10:g.44388394T>C | TOPMed,gnomAD |
rs764969764 | p.Ser99Asn | missense variant | - | NC_000005.10:g.44388387C>T | ExAC,gnomAD |
rs759054084 | p.Ser99Arg | missense variant | - | NC_000005.10:g.44388386G>T | ExAC,gnomAD |
COSM4413111 | p.Gly100Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44388385C>T | NCI-TCGA Cosmic |
rs1428980854 | p.Asn105Ser | missense variant | - | NC_000005.10:g.44388369T>C | TOPMed |
NCI-TCGA novel | p.Asn105Lys | missense variant | - | NC_000005.10:g.44388368G>C | NCI-TCGA |
rs104893885 | p.Cys106Phe | missense variant | Lacrimo-auriculo-dento-digital syndrome (LADDS) | NC_000005.10:g.44388366C>A | UniProt,dbSNP |
VAR_029888 | p.Cys106Phe | missense variant | Lacrimo-auriculo-dento-digital syndrome (LADDS) | NC_000005.10:g.44388366C>A | UniProt |
rs104893885 | p.Cys106Phe | missense variant | - | NC_000005.10:g.44388366C>A | - |
rs200701392 | p.Pro107Arg | missense variant | - | NC_000005.10:g.44388363G>C | TOPMed,gnomAD |
rs200701392 | p.Pro107Leu | missense variant | - | NC_000005.10:g.44388363G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Pro107Thr | missense variant | - | NC_000005.10:g.44388364G>T | NCI-TCGA |
rs1183240121 | p.Tyr108His | missense variant | - | NC_000005.10:g.44388361A>G | gnomAD |
NCI-TCGA novel | p.Ser109Ile | missense variant | - | NC_000005.10:g.44310530C>A | NCI-TCGA |
NCI-TCGA novel | p.Ile110SerPheSerTerUnk | frameshift | - | NC_000005.10:g.44310527_44310528insATAGC | NCI-TCGA |
NCI-TCGA novel | p.Leu111GlyPheSerTerUnk | frameshift | - | NC_000005.10:g.44310525_44310526insACACC | NCI-TCGA |
NCI-TCGA novel | p.Glu112Trp | insertion | - | NC_000005.10:g.44310519_44310520insCCA | NCI-TCGA |
rs1207676419 | p.Ile113Met | missense variant | - | NC_000005.10:g.44310517T>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Val116Leu | missense variant | - | NC_000005.10:g.44310510C>A | NCI-TCGA |
rs201385181 | p.Ile118Met | missense variant | - | NC_000005.10:g.44310502G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly119Ter | stop gained | - | NC_000005.10:g.44310501C>A | NCI-TCGA |
rs769710686 | p.Val120Ile | missense variant | - | NC_000005.10:g.44310498C>T | ExAC,gnomAD |
rs1225998924 | p.Ala122Thr | missense variant | - | NC_000005.10:g.44310492C>T | gnomAD |
rs776683911 | p.Val123Ile | missense variant | - | NC_000005.10:g.44310489C>T | ExAC,TOPMed,gnomAD |
rs1467091511 | p.Val123Ala | missense variant | - | NC_000005.10:g.44310488A>G | TOPMed |
COSM1207048 | p.Ser128Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44310473C>T | NCI-TCGA Cosmic |
rs145888320 | p.Tyr130Cys | missense variant | - | NC_000005.10:g.44310467T>C | ESP,ExAC,TOPMed,gnomAD |
COSM3855392 | p.Leu132Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44310462A>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Met134Ile | missense variant | - | NC_000005.10:g.44310454C>T | NCI-TCGA |
NCI-TCGA novel | p.Met134Ile | missense variant | - | NC_000005.10:g.44310454C>A | NCI-TCGA |
rs746766662 | p.Asn135Ser | missense variant | - | NC_000005.10:g.44310452T>C | ExAC,gnomAD |
rs1398855772 | p.Lys136Asn | missense variant | - | NC_000005.10:g.44310448C>G | gnomAD |
NCI-TCGA novel | p.Lys137Glu | missense variant | - | NC_000005.10:g.44310447T>C | NCI-TCGA |
rs866583243 | p.Gly138Arg | missense variant | - | NC_000005.10:g.44310444C>T | - |
rs866583243 | p.Gly138Arg | missense variant | - | NC_000005.10:g.44310444C>T | NCI-TCGA |
rs1421578299 | p.Ser143Leu | missense variant | - | NC_000005.10:g.44310428G>A | gnomAD |
COSM5682558 | p.Lys144Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000005.10:g.44305192T>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asp149Asn | missense variant | - | NC_000005.10:g.44305177C>T | NCI-TCGA |
COSM1068455 | p.Lys151Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44305170T>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Lys151AsnAsnGlnGlyProHisGlyLysLysTer | stop gained | - | NC_000005.10:g.44305169_44305170insTATTTTTTCCCATGGGGCCCCTGGTTA | NCI-TCGA |
NCI-TCGA novel | p.Lys151AsnGlnGlyProHisGlyLysLysTer | stop gained | - | NC_000005.10:g.44305169_44305170insTATTTTTTCCCATGGGGCCCCTGG | NCI-TCGA |
NCI-TCGA novel | p.Leu152AsnPheSerTerUnk | frameshift | - | NC_000005.10:g.44305168_44305169insTT | NCI-TCGA |
rs1409489572 | p.Arg155Lys | missense variant | - | NC_000005.10:g.44305158C>T | TOPMed,gnomAD |
rs104893886 | p.Ile156Arg | missense variant | Lacrimo-auriculo-dento-digital syndrome (LADDS) | NC_000005.10:g.44305155A>C | UniProt,dbSNP |
VAR_029889 | p.Ile156Arg | missense variant | Lacrimo-auriculo-dento-digital syndrome (LADDS) | NC_000005.10:g.44305155A>C | UniProt |
rs104893886 | p.Ile156Arg | missense variant | - | NC_000005.10:g.44305155A>C | - |
COSM351231 | p.Glu157Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44305151C>A | NCI-TCGA Cosmic |
COSM6104075 | p.Asn159Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44305145A>T | NCI-TCGA Cosmic |
COSM6171278 | p.Tyr161Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000005.10:g.44305139G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asn162LeuPheSerTerUnkUnk | frameshift | - | NC_000005.10:g.44305138_44305139insTATTATGGATTTGTAG | NCI-TCGA |
rs1206827871 | p.Thr163Ile | missense variant | - | NC_000005.10:g.44305134G>A | gnomAD |
rs1374899961 | p.Phe167Leu | missense variant | - | NC_000005.10:g.44305123A>G | gnomAD |
rs758742613 | p.Gln170Lys | missense variant | - | NC_000005.10:g.44305114G>T | ExAC,gnomAD |
rs1456457163 | p.His171Tyr | missense variant | - | NC_000005.10:g.44305111G>A | TOPMed |
rs1200591041 | p.Arg174Thr | missense variant | - | NC_000005.10:g.44305101C>G | TOPMed |
NCI-TCGA novel | p.Met176Arg | missense variant | - | NC_000005.10:g.44305095A>C | NCI-TCGA |
rs1453394033 | p.Tyr177Phe | missense variant | - | NC_000005.10:g.44305092T>A | gnomAD |
NCI-TCGA novel | p.Val178Met | missense variant | - | NC_000005.10:g.44305090C>T | NCI-TCGA |
rs1332768200 | p.Asn181Asp | missense variant | - | NC_000005.10:g.44305081T>C | gnomAD |
rs1332768200 | p.Asn181His | missense variant | - | NC_000005.10:g.44305081T>G | gnomAD |
NCI-TCGA novel | p.Gly182Val | missense variant | - | NC_000005.10:g.44305077C>A | NCI-TCGA |
NCI-TCGA novel | p.Gly182Glu | missense variant | - | NC_000005.10:g.44305077C>T | NCI-TCGA |
rs1442319696 | p.Arg187Lys | missense variant | - | NC_000005.10:g.44305062C>T | TOPMed |
rs183142365 | p.Arg188Ile | missense variant | - | NC_000005.10:g.44305059C>A | 1000Genomes |
NCI-TCGA novel | p.Arg188Lys | missense variant | - | NC_000005.10:g.44305059C>T | NCI-TCGA |
rs1013456350 | p.Gln190Glu | missense variant | - | NC_000005.10:g.44305054G>C | TOPMed,gnomAD |
rs1403015185 | p.Gln190His | missense variant | - | NC_000005.10:g.44305052C>G | gnomAD |
rs104893884 | p.Arg193Ter | stop gained | - | NC_000005.10:g.44305045G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1158466327 | p.Arg193Gln | missense variant | - | NC_000005.10:g.44305044C>T | NCI-TCGA Cosmic |
rs104893884 | p.Arg193Gly | missense variant | - | NC_000005.10:g.44305045G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1158466327 | p.Arg193Gln | missense variant | - | NC_000005.10:g.44305044C>T | TOPMed,gnomAD |
rs1418284908 | p.Arg194Lys | missense variant | - | NC_000005.10:g.44305041C>T | gnomAD |
COSM738693 | p.Lys195Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44305038T>A | NCI-TCGA Cosmic |
rs1165118219 | p.Lys195Arg | missense variant | - | NC_000005.10:g.44305038T>C | TOPMed |
NCI-TCGA novel | p.Lys195Glu | missense variant | - | NC_000005.10:g.44305039T>C | NCI-TCGA |
rs1163839847 | p.Thr197Ile | missense variant | - | NC_000005.10:g.44305032G>A | gnomAD |
rs1235308786 | p.Ser198Cys | missense variant | - | NC_000005.10:g.44305029G>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser198Phe | missense variant | - | NC_000005.10:g.44305029G>A | NCI-TCGA |
COSM3855391 | p.Ala199Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000005.10:g.44305026G>A | NCI-TCGA Cosmic |
rs150695565 | p.Met204Val | missense variant | - | NC_000005.10:g.44305012T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Met204Ile | missense variant | - | NC_000005.10:g.44305010C>A | NCI-TCGA |
rs773535125 | p.Val205Met | missense variant | - | NC_000005.10:g.44305009C>T | ExAC,TOPMed,gnomAD |
rs202151850 | p.Val206Leu | missense variant | - | NC_000005.10:g.44305006C>A | 1000Genomes,gnomAD |
rs202151850 | p.Val206Ile | missense variant | - | NC_000005.10:g.44305006C>T | 1000Genomes,gnomAD |
NCI-TCGA novel | p.Val206Ala | missense variant | - | NC_000005.10:g.44305005A>G | NCI-TCGA |
rs147715509 | p.His207Arg | missense variant | - | NC_000005.10:g.44305002T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs147715509 | p.His207Pro | missense variant | - | NC_000005.10:g.44305002T>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |