rs1182543787 | p.Thr4Ile | missense variant | - | NC_000009.12:g.107283640C>T | gnomAD |
rs758392805 | p.Leu5Val | missense variant | - | NC_000009.12:g.107283642C>G | ExAC,TOPMed,gnomAD |
rs1174873515 | p.Thr7Asn | missense variant | - | NC_000009.12:g.107283649C>A | TOPMed,gnomAD |
rs1174873515 | p.Thr7Ile | missense variant | - | NC_000009.12:g.107283649C>T | TOPMed,gnomAD |
rs1465390576 | p.Leu8Val | missense variant | - | NC_000009.12:g.107283651C>G | gnomAD |
rs1264249597 | p.Gln11Arg | missense variant | - | NC_000009.12:g.107283661A>G | TOPMed |
rs1329772380 | p.Thr12Ile | missense variant | - | NC_000009.12:g.107283664C>T | gnomAD |
rs755530025 | p.Phe13Leu | missense variant | - | NC_000009.12:g.107283668C>A | ExAC,gnomAD |
rs781683465 | p.Lys14Met | missense variant | - | NC_000009.12:g.107283670A>T | ExAC,TOPMed,gnomAD |
rs781683465 | p.Lys14Arg | missense variant | - | NC_000009.12:g.107283670A>G | ExAC,TOPMed,gnomAD |
rs781683465 | p.Lys14Thr | missense variant | - | NC_000009.12:g.107283670A>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ile15Val | missense variant | - | NC_000009.12:g.107283672A>G | NCI-TCGA |
rs1230946595 | p.Asp16Asn | missense variant | - | NC_000009.12:g.107283675G>A | gnomAD |
rs868532415 | p.Asp16Glu | missense variant | - | NC_000009.12:g.107283677C>A | TOPMed,gnomAD |
rs1264871577 | p.Asp16Ala | missense variant | - | NC_000009.12:g.107283676A>C | gnomAD |
rs748424653 | p.Ile17Val | missense variant | - | NC_000009.12:g.107283678A>G | ExAC,gnomAD |
rs1481733080 | p.Asp18Gly | missense variant | - | NC_000009.12:g.107283682A>G | TOPMed,gnomAD |
rs922886223 | p.Glu20Lys | missense variant | - | NC_000009.12:g.107283687G>A | TOPMed,gnomAD |
rs771718228 | p.Lys24Arg | missense variant | - | NC_000009.12:g.107300145A>G | ExAC,gnomAD |
rs1409602868 | p.Glu33Gly | missense variant | - | NC_000009.12:g.107300172A>G | gnomAD |
rs760729054 | p.Lys34Arg | missense variant | - | NC_000009.12:g.107300175A>G | ExAC,gnomAD |
COSM1103632 | p.Lys36Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107300182A>C | NCI-TCGA Cosmic |
rs1403843166 | p.Asp37Gly | missense variant | - | NC_000009.12:g.107300184A>G | gnomAD |
rs1244948800 | p.Ala38Gly | missense variant | - | NC_000009.12:g.107300187C>G | TOPMed |
rs768301757 | p.Val41Leu | missense variant | - | NC_000009.12:g.107300195G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Lys45AsnPheSerTerUnk | frameshift | - | NC_000009.12:g.107300205A>- | NCI-TCGA |
rs776541236 | p.Tyr48Phe | missense variant | - | NC_000009.12:g.107300217A>T | ExAC,gnomAD |
NCI-TCGA novel | p.Tyr48Cys | missense variant | - | NC_000009.12:g.107300217A>G | NCI-TCGA |
NCI-TCGA novel | p.Ala49Thr | missense variant | - | NC_000009.12:g.107300219G>A | NCI-TCGA |
rs781760113 | p.Asn54Ser | missense variant | - | NC_000009.12:g.107302047A>G | ExAC,TOPMed,gnomAD |
rs1389288527 | p.Asn54His | missense variant | - | NC_000009.12:g.107302046A>C | gnomAD |
rs201722512 | p.Asp56Gly | missense variant | - | NC_000009.12:g.107302053A>G | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Thr57Ala | missense variant | - | NC_000009.12:g.107302055A>G | NCI-TCGA |
rs1161721301 | p.Ala58Pro | missense variant | - | NC_000009.12:g.107302058G>C | gnomAD |
rs757678716 | p.Leu59Val | missense variant | - | NC_000009.12:g.107302061C>G | ExAC,TOPMed,gnomAD |
COSM1222994 | p.Glu61Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000009.12:g.107302067G>T | NCI-TCGA Cosmic |
rs765760139 | p.Glu61Asp | missense variant | - | NC_000009.12:g.107302069A>T | ExAC,TOPMed,gnomAD |
rs1298067283 | p.Asp65Val | missense variant | - | NC_000009.12:g.107302080A>T | gnomAD |
NCI-TCGA novel | p.Asn68ThrPheSerTerUnk | frameshift | - | NC_000009.12:g.107302085A>- | NCI-TCGA |
rs1346689700 | p.Val80Leu | missense variant | - | NC_000009.12:g.107306388G>T | TOPMed |
rs376878974 | p.Val80Gly | missense variant | - | NC_000009.12:g.107306389T>G | ESP,ExAC,TOPMed,gnomAD |
rs765992287 | p.Thr82Lys | missense variant | - | NC_000009.12:g.107306395C>A | ExAC,gnomAD |
rs1348422706 | p.Thr87Ala | missense variant | - | NC_000009.12:g.107306409A>G | TOPMed,gnomAD |
rs754501431 | p.Ser91Leu | missense variant | - | NC_000009.12:g.107306422C>T | ExAC,TOPMed,gnomAD |
rs1441579574 | p.Ala92Pro | missense variant | - | NC_000009.12:g.107306424G>C | gnomAD |
rs1181533322 | p.Ser95Asn | missense variant | - | NC_000009.12:g.107306434G>A | gnomAD |
rs780635159 | p.Thr96Ile | missense variant | - | NC_000009.12:g.107306437C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Ala98Ser | missense variant | - | NC_000009.12:g.107306442G>T | NCI-TCGA |
rs79639067 | p.Ser102Pro | missense variant | - | NC_000009.12:g.107306454T>C | ESP,ExAC,TOPMed |
rs79639067 | p.Ser102Ala | missense variant | - | NC_000009.12:g.107306454T>G | ESP,ExAC,TOPMed |
rs749014621 | p.Thr103Ile | missense variant | - | NC_000009.12:g.107306458C>T | ExAC,gnomAD |
rs1159712312 | p.Thr105Ile | missense variant | - | NC_000009.12:g.107306464C>T | gnomAD |
rs780308925 | p.Thr106Ala | missense variant | - | NC_000009.12:g.107306466A>G | ExAC,TOPMed,gnomAD |
rs747257394 | p.Val107Met | missense variant | - | NC_000009.12:g.107306469G>A | ExAC,gnomAD |
rs1339139628 | p.Ala108Ser | missense variant | - | NC_000009.12:g.107306472G>T | gnomAD |
rs1407780373 | p.Ala108Gly | missense variant | - | NC_000009.12:g.107306473C>G | gnomAD |
COSM4853535 | p.Gln109Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000009.12:g.107306475C>T | NCI-TCGA Cosmic |
rs950956301 | p.Pro111Ser | missense variant | - | NC_000009.12:g.107306481C>T | TOPMed,gnomAD |
rs950956301 | p.Pro111Ala | missense variant | - | NC_000009.12:g.107306481C>G | TOPMed,gnomAD |
rs776897206 | p.Thr112Asn | missense variant | - | NC_000009.12:g.107306485C>A | ExAC,gnomAD |
rs1207439891 | p.Thr112Ala | missense variant | - | NC_000009.12:g.107306484A>G | TOPMed |
NCI-TCGA novel | p.Pro113His | missense variant | - | NC_000009.12:g.107306488C>A | NCI-TCGA |
rs1280004247 | p.Pro113Ser | missense variant | - | NC_000009.12:g.107306487C>T | gnomAD |
rs763010277 | p.Pro113Arg | missense variant | - | NC_000009.12:g.107306488C>G | ExAC,TOPMed,gnomAD |
rs763010277 | p.Pro113Leu | missense variant | - | NC_000009.12:g.107306488C>T | ExAC,TOPMed,gnomAD |
COSM1459176 | p.Pro115His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107306494C>A | NCI-TCGA Cosmic |
rs917424064 | p.Ala116Ser | missense variant | - | NC_000009.12:g.107306496G>T | TOPMed,gnomAD |
rs773862253 | p.Ala116Val | missense variant | - | NC_000009.12:g.107306497C>T | ExAC,gnomAD |
rs1461920343 | p.Leu117Ser | missense variant | - | NC_000009.12:g.107306500T>C | TOPMed,gnomAD |
rs55815226 | p.Pro119His | missense variant | - | NC_000009.12:g.107306506C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs55815226 | p.Pro119Arg | missense variant | - | NC_000009.12:g.107306506C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1248493574 | p.Pro119Ser | missense variant | - | NC_000009.12:g.107306505C>T | TOPMed,gnomAD |
rs1434356414 | p.Thr120Ala | missense variant | - | NC_000009.12:g.107306508A>G | TOPMed |
rs759152448 | p.Thr122Ile | missense variant | - | NC_000009.12:g.107306515C>T | ExAC,TOPMed,gnomAD |
rs751220555 | p.Thr122Ala | missense variant | - | NC_000009.12:g.107306514A>G | ExAC,gnomAD |
COSM6114465 | p.Ala124Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107306521C>A | NCI-TCGA Cosmic |
rs111972101 | p.Ala124Val | missense variant | - | NC_000009.12:g.107306521C>T | ESP,ExAC,TOPMed,gnomAD |
rs755623960 | p.Ser125Pro | missense variant | - | NC_000009.12:g.107306523T>C | ExAC,gnomAD |
rs1469987484 | p.Ile126Asn | missense variant | - | NC_000009.12:g.107306527T>A | gnomAD |
rs1375952090 | p.Ile126Leu | missense variant | - | NC_000009.12:g.107306526A>C | TOPMed |
rs777629375 | p.Pro128Ser | missense variant | - | NC_000009.12:g.107306532C>T | ExAC,gnomAD |
rs753831088 | p.Ala129Val | missense variant | - | NC_000009.12:g.107306536C>T | ExAC,gnomAD |
rs200509488 | p.Ala131Val | missense variant | - | NC_000009.12:g.107306542C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1422182733 | p.Thr132Ala | missense variant | - | NC_000009.12:g.107306544A>G | TOPMed |
rs747228381 | p.Thr132Ile | missense variant | - | NC_000009.12:g.107306545C>T | ExAC,TOPMed,gnomAD |
rs548841376 | p.Ala138Gly | missense variant | - | NC_000009.12:g.107306563C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs548841376 | p.Ala138Val | missense variant | - | NC_000009.12:g.107306563C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs773845845 | p.Ala140Thr | missense variant | - | NC_000009.12:g.107306568G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Ser141Cys | missense variant | - | NC_000009.12:g.107306571A>T | NCI-TCGA |
rs141800980 | p.Ser141Asn | missense variant | - | NC_000009.12:g.107306572G>A | ESP,TOPMed,gnomAD |
rs1481759589 | p.Ala142Ser | missense variant | - | NC_000009.12:g.107306574G>T | gnomAD |
rs749832557 | p.Ala143Ser | missense variant | - | NC_000009.12:g.107306577G>T | ExAC,TOPMed,gnomAD |
rs749832557 | p.Ala143Thr | missense variant | - | NC_000009.12:g.107306577G>A | ExAC,TOPMed,gnomAD |
rs374011602 | p.Lys144Gln | missense variant | - | NC_000009.12:g.107306580A>C | ESP,ExAC,TOPMed,gnomAD |
rs374011602 | p.Lys144Glu | missense variant | - | NC_000009.12:g.107306580A>G | ESP,ExAC,TOPMed,gnomAD |
rs1202306409 | p.Gln145Arg | missense variant | - | NC_000009.12:g.107306584A>G | gnomAD |
rs767087752 | p.Lys147Asn | missense variant | - | NC_000009.12:g.107306591G>T | ExAC,TOPMed,gnomAD |
rs1159305210 | p.Pro148Ser | missense variant | - | NC_000009.12:g.107306592C>T | TOPMed,gnomAD |
rs1428226150 | p.Pro148Arg | missense variant | - | NC_000009.12:g.107306593C>G | TOPMed,gnomAD |
rs1428226150 | p.Pro148Leu | missense variant | - | NC_000009.12:g.107306593C>T | TOPMed,gnomAD |
rs775135855 | p.Ala149Thr | missense variant | - | NC_000009.12:g.107306595G>A | ExAC,gnomAD |
COSM4836899 | p.Glu150Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107306598G>A | NCI-TCGA Cosmic |
rs760163367 | p.Lys151Glu | missense variant | - | NC_000009.12:g.107306601A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Pro152Ala | missense variant | - | NC_000009.12:g.107306604C>G | NCI-TCGA |
rs1459302950 | p.Ala153Gly | missense variant | - | NC_000009.12:g.107306608C>G | gnomAD |
rs138257027 | p.Glu154Gln | missense variant | - | NC_000009.12:g.107306610G>C | ESP,ExAC,gnomAD |
rs376087685 | p.Thr155Ile | missense variant | - | NC_000009.12:g.107306614C>T | ESP,ExAC,TOPMed,gnomAD |
rs765239059 | p.Pro156Ala | missense variant | - | NC_000009.12:g.107306616C>G | ExAC,gnomAD |
rs750142843 | p.Pro156Leu | missense variant | - | NC_000009.12:g.107306617C>T | ExAC,gnomAD |
COSM1103635 | p.Pro156Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107306616C>T | NCI-TCGA Cosmic |
rs758219436 | p.Val157Leu | missense variant | - | NC_000009.12:g.107306619G>C | ExAC,gnomAD |
rs1293204156 | p.Thr159Asn | missense variant | - | NC_000009.12:g.107306626C>A | gnomAD |
rs1039142546 | p.Pro161Leu | missense variant | - | NC_000009.12:g.107306632C>T | TOPMed |
rs781509755 | p.Pro161Ser | missense variant | - | NC_000009.12:g.107306631C>T | ExAC,TOPMed,gnomAD |
rs748443238 | p.Thr162Lys | missense variant | - | NC_000009.12:g.107306635C>A | ExAC,TOPMed,gnomAD |
rs1228476488 | p.Thr162Ala | missense variant | - | NC_000009.12:g.107306634A>G | gnomAD |
rs1224829968 | p.Thr164Ala | missense variant | - | NC_000009.12:g.107306640A>G | TOPMed,gnomAD |
rs1386224950 | p.Asp165Asn | missense variant | - | NC_000009.12:g.107306643G>A | TOPMed |
rs1478993300 | p.Thr167Ile | missense variant | - | NC_000009.12:g.107311684C>T | TOPMed |
rs189555517 | p.Ser168Leu | missense variant | - | NC_000009.12:g.107311687C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs763025606 | p.Gly169Val | missense variant | - | NC_000009.12:g.107311690G>T | ExAC,gnomAD |
rs1443425269 | p.Asp170Asn | missense variant | - | NC_000009.12:g.107311692G>A | TOPMed |
rs766258521 | p.Asp170Gly | missense variant | - | NC_000009.12:g.107311693A>G | ExAC,gnomAD |
rs759438239 | p.Ser171Cys | missense variant | - | NC_000009.12:g.107311696C>G | ExAC,TOPMed,gnomAD |
rs764157337 | p.Arg173Trp | missense variant | - | NC_000009.12:g.107311701C>T | ExAC,gnomAD |
rs1174975812 | p.Ser174Thr | missense variant | - | NC_000009.12:g.107311704T>A | gnomAD |
rs754145429 | p.Asn175Asp | missense variant | - | NC_000009.12:g.107311707A>G | ExAC,gnomAD |
COSM6182118 | p.Thr181Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107311725A>G | NCI-TCGA Cosmic |
rs1035806432 | p.Thr181Met | missense variant | - | NC_000009.12:g.107311726C>T | gnomAD |
rs1490827120 | p.Thr186Met | missense variant | - | NC_000009.12:g.107318755C>T | NCI-TCGA Cosmic |
rs1490827120 | p.Thr186Met | missense variant | - | NC_000009.12:g.107318755C>T | TOPMed,gnomAD |
COSM3925855 | p.Ser189Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107318764C>A | NCI-TCGA Cosmic |
rs558671424 | p.Glu191Lys | missense variant | - | NC_000009.12:g.107318769G>A | 1000Genomes,ExAC,gnomAD |
COSM76155 | p.Thr195Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107318782C>T | NCI-TCGA Cosmic |
COSM3847282 | p.Glu196Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107318784G>A | NCI-TCGA Cosmic |
rs368633787 | p.Met198Leu | missense variant | - | NC_000009.12:g.107318790A>T | ESP,ExAC,gnomAD |
rs368633787 | p.Met198Val | missense variant | - | NC_000009.12:g.107318790A>G | ESP,ExAC,gnomAD |
rs752120411 | p.Ser199Leu | missense variant | - | NC_000009.12:g.107318794C>T | ExAC,gnomAD |
rs755295616 | p.Met200Val | missense variant | - | NC_000009.12:g.107318796A>G | ExAC,gnomAD |
rs755295616 | p.Met200Leu | missense variant | - | NC_000009.12:g.107318796A>T | ExAC,gnomAD |
NCI-TCGA novel | p.Arg204Ter | stop gained | - | NC_000009.12:g.107318808C>T | NCI-TCGA |
rs747733273 | p.Arg204Gln | missense variant | - | NC_000009.12:g.107318809G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu205Ter | stop gained | - | NC_000009.12:g.107318811G>T | NCI-TCGA |
rs1406504932 | p.Val207Ala | missense variant | - | NC_000009.12:g.107318818T>C | gnomAD |
rs1318073143 | p.Ile208Met | missense variant | - | NC_000009.12:g.107318822T>G | gnomAD |
rs755747068 | p.Ala209Ser | missense variant | - | NC_000009.12:g.107318823G>T | ExAC,TOPMed,gnomAD |
COSM267305 | p.Ala210Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107318827C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Leu211Met | missense variant | - | NC_000009.12:g.107318829C>A | NCI-TCGA |
NCI-TCGA novel | p.Leu211Pro | missense variant | - | NC_000009.12:g.107318830T>C | NCI-TCGA |
rs1355110072 | p.Ala213Thr | missense variant | - | NC_000009.12:g.107318835G>A | TOPMed |
COSM3902834 | p.Asn217Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107318848A>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Pro218Ala | missense variant | - | NC_000009.12:g.107318850C>G | NCI-TCGA |
NCI-TCGA novel | p.Tyr224Ser | missense variant | - | NC_000009.12:g.107318869A>C | NCI-TCGA |
rs201643333 | p.Tyr224His | missense variant | - | NC_000009.12:g.107318868T>C | 1000Genomes |
NCI-TCGA novel | p.Leu226Ser | missense variant | - | NC_000009.12:g.107318875T>C | NCI-TCGA |
rs576814919 | p.Met227Val | missense variant | - | NC_000009.12:g.107318877A>G | 1000Genomes |
rs756793941 | p.Gly228Arg | missense variant | - | NC_000009.12:g.107321983G>A | ExAC,gnomAD |
rs1012270808 | p.Gly231Glu | missense variant | - | NC_000009.12:g.107321993G>A | TOPMed |
rs1362516465 | p.Arg233Ser | missense variant | - | NC_000009.12:g.107322000A>T | gnomAD |
rs1051208451 | p.Arg233Thr | missense variant | - | NC_000009.12:g.107321999G>C | TOPMed,gnomAD |
rs1051208451 | p.Arg233Lys | missense variant | - | NC_000009.12:g.107321999G>A | TOPMed,gnomAD |
rs377517847 | p.Glu234Asp | missense variant | - | NC_000009.12:g.107322003A>T | ESP,ExAC,TOPMed,gnomAD |
rs1160326564 | p.Gln236Lys | missense variant | - | NC_000009.12:g.107322007C>A | gnomAD |
NCI-TCGA novel | p.Ala237Val | missense variant | - | NC_000009.12:g.107322011C>T | NCI-TCGA |
rs1429107999 | p.Ala237Thr | missense variant | - | NC_000009.12:g.107322010G>A | gnomAD |
NCI-TCGA novel | p.Val239Ile | missense variant | - | NC_000009.12:g.107322016G>A | NCI-TCGA |
rs146092388 | p.Pro241Arg | missense variant | - | NC_000009.12:g.107322023C>G | ESP,ExAC,TOPMed |
rs768496304 | p.Pro241Ser | missense variant | - | NC_000009.12:g.107322022C>T | ExAC,gnomAD |
rs759569833 | p.Pro242Ala | missense variant | - | NC_000009.12:g.107322025C>G | ExAC,gnomAD |
rs759569833 | p.Pro242Ser | missense variant | - | NC_000009.12:g.107322025C>T | ExAC,gnomAD |
rs1411623808 | p.Pro242His | missense variant | - | NC_000009.12:g.107322026C>A | gnomAD |
COSM3413227 | p.Gln243Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000009.12:g.107322028C>T | NCI-TCGA Cosmic |
rs1322498116 | p.Ala245Val | missense variant | - | NC_000009.12:g.107322035C>T | TOPMed,gnomAD |
rs1221472751 | p.Ser246Thr | missense variant | - | NC_000009.12:g.107322038G>C | gnomAD |
rs1423546846 | p.Ser246Gly | missense variant | - | NC_000009.12:g.107322037A>G | gnomAD |
rs1257943170 | p.Thr247Ala | missense variant | - | NC_000009.12:g.107322040A>G | gnomAD |
rs1805329 | p.Ala249Val | missense variant | - | NC_000009.12:g.107322047C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1805329 | p.Ala249Val | missense variant | - | NC_000009.12:g.107322047C>T | UniProt,dbSNP |
VAR_014350 | p.Ala249Val | missense variant | - | NC_000009.12:g.107322047C>T | UniProt |
rs149794634 | p.Pro250Ser | missense variant | - | NC_000009.12:g.107322049C>T | ESP,ExAC,TOPMed,gnomAD |
rs1484321441 | p.Ser252Cys | missense variant | - | NC_000009.12:g.107322056C>G | gnomAD |
rs144801847 | p.Ala257Thr | missense variant | - | NC_000009.12:g.107322070G>A | ESP,ExAC,gnomAD |
rs756916777 | p.Ala257Gly | missense variant | - | NC_000009.12:g.107322071C>G | ExAC,gnomAD |
rs148559163 | p.Ala259Thr | missense variant | - | NC_000009.12:g.107322076G>A | ESP,ExAC,TOPMed,gnomAD |
rs1195024005 | p.Ala260Thr | missense variant | - | NC_000009.12:g.107322079G>A | TOPMed |
rs201887317 | p.Thr261Ala | missense variant | - | NC_000009.12:g.107322082A>G | ExAC,TOPMed,gnomAD |
rs372514872 | p.Thr262Met | missense variant | - | NC_000009.12:g.107322086C>T | ESP,ExAC,TOPMed,gnomAD |
rs780025783 | p.Thr262Ala | missense variant | - | NC_000009.12:g.107322085A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Thr263Ile | missense variant | - | NC_000009.12:g.107322089C>T | NCI-TCGA |
rs1308492422 | p.Thr263Ala | missense variant | - | NC_000009.12:g.107322088A>G | gnomAD |
NCI-TCGA novel | p.Ala264Val | missense variant | - | NC_000009.12:g.107322092C>T | NCI-TCGA |
rs747959796 | p.Thr265Ala | missense variant | - | NC_000009.12:g.107322094A>G | ExAC,TOPMed,gnomAD |
rs985132401 | p.Thr265Arg | missense variant | - | NC_000009.12:g.107322095C>G | TOPMed,gnomAD |
rs985132401 | p.Thr265Ile | missense variant | - | NC_000009.12:g.107322095C>T | TOPMed,gnomAD |
rs56157506 | p.Thr269Arg | missense variant | - | NC_000009.12:g.107322107C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser271Tyr | missense variant | - | NC_000009.12:g.107322113C>A | NCI-TCGA |
rs776063038 | p.Ser271Phe | missense variant | - | NC_000009.12:g.107322113C>T | ExAC,TOPMed,gnomAD |
rs1421977074 | p.His274Tyr | missense variant | - | NC_000009.12:g.107323892C>T | gnomAD |
COSM3652681 | p.Pro275Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107323896C>T | NCI-TCGA Cosmic |
rs1166756938 | p.Pro275Ser | missense variant | - | NC_000009.12:g.107323895C>T | gnomAD |
rs144174357 | p.Arg280Trp | missense variant | - | NC_000009.12:g.107323910C>T | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gln284Glu | missense variant | - | NC_000009.12:g.107323922C>G | NCI-TCGA |
rs1340466231 | p.Met288Ile | missense variant | - | NC_000009.12:g.107323936G>A | TOPMed |
COSM455109 | p.Arg289Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107323938G>A | NCI-TCGA Cosmic |
rs1294499471 | p.Gln290His | missense variant | - | NC_000009.12:g.107323942A>T | TOPMed |
rs760865069 | p.Ile291Val | missense variant | - | NC_000009.12:g.107323943A>G | ExAC,TOPMed,gnomAD |
rs1436136403 | p.Ile292Thr | missense variant | - | NC_000009.12:g.107323947T>C | gnomAD |
rs769215825 | p.Gln293Arg | missense variant | - | NC_000009.12:g.107323950A>G | ExAC,gnomAD |
COSM3652682 | p.Pro296Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107323959C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser297Phe | missense variant | - | NC_000009.12:g.107323962C>T | NCI-TCGA |
rs777289896 | p.Ala301Val | missense variant | - | NC_000009.12:g.107323974C>T | ExAC,TOPMed,gnomAD |
COSM3779515 | p.Gln305His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107323987G>C | NCI-TCGA Cosmic |
rs1391588245 | p.Ile306Met | missense variant | - | NC_000009.12:g.107323990A>G | gnomAD |
rs140228782 | p.Arg308Gln | missense variant | - | NC_000009.12:g.107323995G>A | ESP,ExAC,TOPMed,gnomAD |
rs1167069133 | p.Arg308Ter | stop gained | - | NC_000009.12:g.107323994C>T | TOPMed |
NCI-TCGA novel | p.Glu309Asp | missense variant | - | NC_000009.12:g.107323999G>T | NCI-TCGA |
COSM3847283 | p.Gln312Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107324006C>G | NCI-TCGA Cosmic |
rs767388236 | p.Gln315Glu | missense variant | - | NC_000009.12:g.107324015C>G | ExAC,gnomAD |
rs1179993104 | p.Gln316His | missense variant | - | NC_000009.12:g.107324836A>C | gnomAD |
rs1253902557 | p.Ser318Gly | missense variant | - | NC_000009.12:g.107324840A>G | gnomAD |
rs1284381289 | p.Gln319Arg | missense variant | - | NC_000009.12:g.107324844A>G | TOPMed,gnomAD |
rs755952661 | p.His323Asp | missense variant | - | NC_000009.12:g.107324855C>G | ExAC,gnomAD |
rs755952661 | p.His323Tyr | missense variant | - | NC_000009.12:g.107324855C>T | ExAC,gnomAD |
rs1477360038 | p.Gln326His | missense variant | - | NC_000009.12:g.107324866G>C | TOPMed |
NCI-TCGA novel | p.Gly336Val | missense variant | - | NC_000009.12:g.107324895G>T | NCI-TCGA |
rs757084565 | p.Gly337Ser | missense variant | - | NC_000009.12:g.107324897G>A | ExAC,TOPMed,gnomAD |
rs1427920102 | p.Gly337Ala | missense variant | - | NC_000009.12:g.107324898G>C | gnomAD |
COSM4822540 | p.Gly339Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107324904G>C | NCI-TCGA Cosmic |
rs1351678324 | p.Gly339Glu | missense variant | - | NC_000009.12:g.107324904G>A | gnomAD |
rs780125343 | p.Gly341Ter | stop gained | - | NC_000009.12:g.107324909G>T | ExAC,gnomAD |
rs1040382251 | p.Gly341Glu | missense variant | - | NC_000009.12:g.107324910G>A | TOPMed |
rs755075731 | p.Gly343Glu | missense variant | - | NC_000009.12:g.107324916G>A | ExAC,TOPMed,gnomAD |
rs1365012593 | p.Gly343Arg | missense variant | - | NC_000009.12:g.107324915G>A | gnomAD |
rs781468979 | p.Gly344Asp | missense variant | - | NC_000009.12:g.107324919G>A | ExAC,gnomAD |
COSM3432744 | p.Gly345Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107324922G>A | NCI-TCGA Cosmic |
rs770162049 | p.Ile349Thr | missense variant | - | NC_000009.12:g.107324934T>C | ExAC,gnomAD |
rs748261610 | p.Ile349Val | missense variant | - | NC_000009.12:g.107324933A>G | ExAC,TOPMed,gnomAD |
rs1483371594 | p.Glu351Gly | missense variant | - | NC_000009.12:g.107324940A>G | gnomAD |
COSM1103638 | p.Ala352Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107324942G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ala352Thr | missense variant | - | NC_000009.12:g.107324942G>A | NCI-TCGA |
NCI-TCGA novel | p.Ser354Arg | missense variant | - | NC_000009.12:g.107324950T>G | NCI-TCGA |
rs773774956 | p.Ser354Asn | missense variant | - | NC_000009.12:g.107324949G>A | ExAC,gnomAD |
rs1244831507 | p.Gly355Val | missense variant | - | NC_000009.12:g.107324952G>T | gnomAD |
rs749558086 | p.His356Arg | missense variant | - | NC_000009.12:g.107324955A>G | ExAC,gnomAD |
rs1419081449 | p.Gln361Glu | missense variant | - | NC_000009.12:g.107324969C>G | gnomAD |
rs773992502 | p.Pro364Ala | missense variant | - | NC_000009.12:g.107324978C>G | ExAC,gnomAD |
rs201813616 | p.Gln365Ter | stop gained | - | NC_000009.12:g.107324981C>T | 1000Genomes |
rs1170587715 | p.Glu366Ala | missense variant | - | NC_000009.12:g.107324985A>C | gnomAD |
rs1468474780 | p.Glu371Asp | missense variant | - | NC_000009.12:g.107325001A>C | gnomAD |
rs768029751 | p.Ala375Pro | missense variant | - | NC_000009.12:g.107329549G>C | ExAC,gnomAD |
COSM1222993 | p.Gly377Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107329555G>A | NCI-TCGA Cosmic |
COSM1103639 | p.Val383Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107329574T>C | NCI-TCGA Cosmic |
rs1184982125 | p.Ala386Val | missense variant | - | NC_000009.12:g.107329583C>T | TOPMed |
COSM1103640 | p.Tyr387His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107329585T>C | NCI-TCGA Cosmic |
COSM3847284 | p.Glu394Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000009.12:g.107329606G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ala398Thr | missense variant | - | NC_000009.12:g.107329618G>A | NCI-TCGA |
NCI-TCGA novel | p.Leu401Phe | missense variant | - | NC_000009.12:g.107329627C>T | NCI-TCGA |
rs1270526977 | p.Leu402Ile | missense variant | - | NC_000009.12:g.107329630C>A | gnomAD |
rs769787918 | p.Asn405Lys | missense variant | - | NC_000009.12:g.107329641C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Asp407Asn | missense variant | - | NC_000009.12:g.107329645G>A | NCI-TCGA |
NCI-TCGA novel | p.Ter410LeuGluUnkThrTerUnkUnk | stop lost | - | NC_000009.12:g.107329655G>T | NCI-TCGA |