rs1207370093 | p.Asp2Tyr | missense variant | - | NC_000004.12:g.123401595G>T | gnomAD |
COSM3825119 | p.Asp2Gly | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123401596A>G | NCI-TCGA Cosmic |
COSM3599804 | p.Asp2Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123401595G>A | NCI-TCGA Cosmic |
rs1261698204 | p.Pro3Leu | missense variant | - | NC_000004.12:g.123401599C>T | gnomAD |
NCI-TCGA novel | p.Gln4His | missense variant | - | NC_000004.12:g.123401603A>C | NCI-TCGA |
rs778412478 | p.Asn5Ser | missense variant | - | NC_000004.12:g.123401605A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Asn5IlePheSerTerUnk | frameshift | - | NC_000004.12:g.123401602A>- | NCI-TCGA |
rs749729525 | p.Gln6Lys | missense variant | - | NC_000004.12:g.123401607C>A | ExAC,gnomAD |
rs749729525 | p.Gln6Glu | missense variant | - | NC_000004.12:g.123401607C>G | ExAC,gnomAD |
rs774533854 | p.His7Arg | missense variant | - | NC_000004.12:g.123401611A>G | ExAC,TOPMed,gnomAD |
rs905885817 | p.His7Tyr | missense variant | - | NC_000004.12:g.123401610C>T | TOPMed |
rs1251466254 | p.Ser9Gly | missense variant | - | NC_000004.12:g.123401616A>G | TOPMed |
rs760438293 | p.Gly10Asp | missense variant | - | NC_000004.12:g.123401620G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Ser11Ile | missense variant | - | NC_000004.12:g.123401623G>T | NCI-TCGA |
rs535040315 | p.Ser12Leu | missense variant | - | NC_000004.12:g.123401626C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1402871564 | p.Val15Leu | missense variant | - | NC_000004.12:g.123401634G>T | gnomAD |
rs761473092 | p.Ile16Thr | missense variant | - | NC_000004.12:g.123401638T>C | ExAC,TOPMed,gnomAD |
COSM1426744 | p.Ile16Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123401639C>G | NCI-TCGA Cosmic |
rs1339659079 | p.Gln17Pro | missense variant | - | NC_000004.12:g.123401641A>C | gnomAD |
rs971313977 | p.Pro19Ala | missense variant | - | NC_000004.12:g.123401646C>G | gnomAD |
rs766226331 | p.Ser20Pro | missense variant | - | NC_000004.12:g.123401649T>C | ExAC,gnomAD |
rs1035810825 | p.Asp22Glu | missense variant | - | NC_000004.12:g.123401657T>A | TOPMed,gnomAD |
rs371347844 | p.Ser23Arg | missense variant | - | NC_000004.12:g.123401660C>G | ESP,ExAC,gnomAD |
rs755205655 | p.Arg24Cys | missense variant | - | NC_000004.12:g.123401661C>T | ExAC,TOPMed,gnomAD |
rs755205655 | p.Arg24Ser | missense variant | - | NC_000004.12:g.123401661C>A | ExAC,TOPMed,gnomAD |
rs755205655 | p.Arg24Gly | missense variant | - | NC_000004.12:g.123401661C>G | ExAC,TOPMed,gnomAD |
rs201409774 | p.Arg24His | missense variant | - | NC_000004.12:g.123401662G>A | ESP,ExAC,TOPMed,gnomAD |
rs756227593 | p.Arg26Thr | missense variant | - | NC_000004.12:g.123401668G>C | ExAC,TOPMed,gnomAD |
rs1020791706 | p.Leu27Ser | missense variant | - | NC_000004.12:g.123401671T>C | TOPMed,gnomAD |
COSM6098943 | p.Asp28Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123401673G>A | NCI-TCGA Cosmic |
rs141161959 | p.Tyr29Cys | missense variant | - | NC_000004.12:g.123401677A>G | ESP,ExAC,TOPMed,gnomAD |
rs141161959 | p.Tyr29Phe | missense variant | - | NC_000004.12:g.123401677A>T | ESP,ExAC,TOPMed,gnomAD |
rs979389180 | p.Glu30Lys | missense variant | - | NC_000004.12:g.123401679G>A | TOPMed,gnomAD |
rs757634424 | p.Arg31Lys | missense variant | - | NC_000004.12:g.123401683G>A | ExAC,gnomAD |
rs146763160 | p.Glu32Gln | missense variant | - | NC_000004.12:g.123401685G>C | 1000Genomes,ExAC,gnomAD |
rs746288824 | p.Glu32Gly | missense variant | - | NC_000004.12:g.123401686A>G | ExAC,gnomAD |
rs1032412417 | p.Ile33Val | missense variant | - | NC_000004.12:g.123401688A>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Ile33ArgPheSerTerUnkUnk | frameshift | - | NC_000004.12:g.123401678_123401679insGA | NCI-TCGA |
rs776496321 | p.Gln34Arg | missense variant | - | NC_000004.12:g.123401692A>G | ExAC |
NCI-TCGA novel | p.Gln34Ter | stop gained | - | NC_000004.12:g.123401691C>T | NCI-TCGA |
rs772538327 | p.Gln34Lys | missense variant | - | NC_000004.12:g.123401691C>A | ExAC,gnomAD |
rs1437056441 | p.Pro35Ser | missense variant | - | NC_000004.12:g.123401694C>T | TOPMed |
rs1393731697 | p.Pro35Leu | missense variant | - | NC_000004.12:g.123401695C>T | TOPMed |
rs1173393898 | p.Thr36Ser | missense variant | - | NC_000004.12:g.123401698C>G | TOPMed |
rs1309434500 | p.Thr36Ser | missense variant | - | NC_000004.12:g.123401697A>T | gnomAD |
rs115106991 | p.Ala37Thr | missense variant | - | NC_000004.12:g.123401700G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs769362140 | p.Ile38Val | missense variant | - | NC_000004.12:g.123401703A>G | ExAC,TOPMed,gnomAD |
rs772531944 | p.Ile38Ser | missense variant | - | NC_000004.12:g.123401704T>G | ExAC,gnomAD |
rs1236068649 | p.Lys45Asn | missense variant | - | NC_000004.12:g.123401726G>C | gnomAD |
rs376428204 | p.Ala46Ser | missense variant | - | NC_000004.12:g.123401727G>T | ESP,ExAC,TOPMed,gnomAD |
rs759365951 | p.Ile47Val | missense variant | - | NC_000004.12:g.123401730A>G | ExAC,TOPMed,gnomAD |
rs759365951 | p.Ile47Leu | missense variant | - | NC_000004.12:g.123401730A>C | ExAC,TOPMed,gnomAD |
rs537774102 | p.Arg48Lys | missense variant | - | NC_000004.12:g.123401734G>A | 1000Genomes,ExAC,gnomAD |
rs752972858 | p.Gly49Ser | missense variant | - | NC_000004.12:g.123401736G>A | ExAC,gnomAD |
rs557398664 | p.Ser50Arg | missense variant | - | NC_000004.12:g.123401741C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs764236200 | p.Asn51Ser | missense variant | - | NC_000004.12:g.123401743A>G | ExAC,TOPMed,gnomAD |
rs757800382 | p.Glu52Gln | missense variant | - | NC_000004.12:g.123401745G>C | ExAC,TOPMed,gnomAD |
rs181355842 | p.Glu55Lys | missense variant | - | NC_000004.12:g.123401754G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Pro57Ser | missense variant | - | NC_000004.12:g.123401760C>T | NCI-TCGA |
NCI-TCGA novel | p.Pro57Leu | missense variant | - | NC_000004.12:g.123401761C>T | NCI-TCGA |
rs746376752 | p.Ser58Leu | missense variant | - | NC_000004.12:g.123401764C>T | ExAC,TOPMed,gnomAD |
rs780510324 | p.Val59Met | missense variant | - | NC_000004.12:g.123401766G>A | ExAC,gnomAD |
rs747809146 | p.Val60Leu | missense variant | - | NC_000004.12:g.123401769G>C | ExAC,gnomAD |
rs147613282 | p.Pro63Leu | missense variant | - | NC_000004.12:g.123401779C>T | ESP,ExAC,TOPMed,gnomAD |
rs772802512 | p.Pro63Ser | missense variant | - | NC_000004.12:g.123401778C>T | ExAC |
rs1402626301 | p.Ala64Val | missense variant | - | NC_000004.12:g.123401782C>T | gnomAD |
rs770444253 | p.Pro65Ala | missense variant | - | NC_000004.12:g.123401784C>G | ExAC,gnomAD |
rs1370855364 | p.Pro65Leu | missense variant | - | NC_000004.12:g.123401785C>T | TOPMed,gnomAD |
rs1370855364 | p.Pro65Arg | missense variant | - | NC_000004.12:g.123401785C>G | TOPMed,gnomAD |
rs1370855364 | p.Pro65His | missense variant | - | NC_000004.12:g.123401785C>A | TOPMed,gnomAD |
rs745654554 | p.Arg66Trp | missense variant | - | NC_000004.12:g.123401787C>T | ExAC,TOPMed,gnomAD |
rs140546097 | p.Arg66Gln | missense variant | - | NC_000004.12:g.123401788G>A | ESP,ExAC,TOPMed,gnomAD |
rs745654554 | p.Arg66Gly | missense variant | - | NC_000004.12:g.123401787C>G | ExAC,TOPMed,gnomAD |
rs760985314 | p.Pro69Ser | missense variant | - | NC_000004.12:g.123401796C>T | ExAC,TOPMed,gnomAD |
rs754063951 | p.Pro69Leu | missense variant | - | NC_000004.12:g.123401797C>T | ExAC,TOPMed,gnomAD |
rs760985314 | p.Pro69Ala | missense variant | - | NC_000004.12:g.123401796C>G | ExAC,TOPMed,gnomAD |
rs754063951 | p.Pro69Arg | missense variant | - | NC_000004.12:g.123401797C>G | ExAC,TOPMed,gnomAD |
rs1252472220 | p.Arg70Lys | missense variant | - | NC_000004.12:g.123401800G>A | gnomAD |
rs761868969 | p.Lys73Gln | missense variant | - | NC_000004.12:g.123401808A>C | ExAC,gnomAD |
rs750983063 | p.His74Arg | missense variant | - | NC_000004.12:g.123401812A>G | ExAC,TOPMed,gnomAD |
rs765397031 | p.His74Asn | missense variant | - | NC_000004.12:g.123401811C>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Thr77Ile | missense variant | - | NC_000004.12:g.123401821C>T | NCI-TCGA |
rs1293612685 | p.His78Gln | missense variant | - | NC_000004.12:g.123401825T>G | gnomAD |
COSM3917092 | p.Glu79Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123401826G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ile81Met | missense variant | - | NC_000004.12:g.123401834A>G | NCI-TCGA |
NCI-TCGA novel | p.Ile81Val | missense variant | - | NC_000004.12:g.123401832A>G | NCI-TCGA |
rs1333725638 | p.Ile81Thr | missense variant | - | NC_000004.12:g.123401833T>C | TOPMed,gnomAD |
rs780598099 | p.Pro82Ser | missense variant | - | NC_000004.12:g.123401835C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Ile83Phe | missense variant | - | NC_000004.12:g.123401838A>T | NCI-TCGA |
NCI-TCGA novel | p.Ile83Met | missense variant | - | NC_000004.12:g.123401840T>G | NCI-TCGA |
rs1231136079 | p.Ile83Val | missense variant | - | NC_000004.12:g.123401838A>G | TOPMed,gnomAD |
rs373671065 | p.Asn87Asp | missense variant | - | NC_000004.12:g.123401850A>G | ESP,TOPMed |
NCI-TCGA novel | p.Tyr89His | missense variant | - | NC_000004.12:g.123401856T>C | NCI-TCGA |
rs376949828 | p.Tyr89Cys | missense variant | - | NC_000004.12:g.123401857A>G | ExAC,TOPMed,gnomAD |
rs770404936 | p.Glu90Asp | missense variant | - | NC_000004.12:g.123401861G>C | ExAC,gnomAD |
rs1337971722 | p.Glu90Lys | missense variant | - | NC_000004.12:g.123401859G>A | TOPMed |
rs370896287 | p.His91Arg | missense variant | - | NC_000004.12:g.123401863A>G | ESP,ExAC,gnomAD |
rs542203833 | p.Thr94Ile | missense variant | - | NC_000004.12:g.123401872C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs542203833 | p.Thr94Lys | missense variant | - | NC_000004.12:g.123401872C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
COSM1426747 | p.His96Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123401878A>G | NCI-TCGA Cosmic |
rs374319181 | p.Gly98Glu | missense variant | - | NC_000004.12:g.123401884G>A | ESP,ExAC,TOPMed,gnomAD |
rs1251272686 | p.Ala100Glu | missense variant | - | NC_000004.12:g.123401890C>A | gnomAD |
rs1177711939 | p.Val101Gly | missense variant | - | NC_000004.12:g.123401893T>G | TOPMed |
rs762040198 | p.Ser104Gly | missense variant | - | NC_000004.12:g.123401901A>G | ExAC,gnomAD |
rs765414706 | p.Ala106Val | missense variant | - | NC_000004.12:g.123401908C>T | ExAC,TOPMed,gnomAD |
rs765414706 | p.Ala106Asp | missense variant | - | NC_000004.12:g.123401908C>A | ExAC,TOPMed,gnomAD |
rs1190528580 | p.Arg107Lys | missense variant | - | NC_000004.12:g.123401911G>A | gnomAD |
rs1415724393 | p.Arg107Gly | missense variant | - | NC_000004.12:g.123401910A>G | gnomAD |
COSM6166066 | p.Arg107Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123401911G>T | NCI-TCGA Cosmic |
rs763577838 | p.Gly108Val | missense variant | - | NC_000004.12:g.123401914G>T | ExAC,gnomAD |
rs1421632582 | p.Gly108Arg | missense variant | - | NC_000004.12:g.123401913G>C | gnomAD |
rs1412044700 | p.Ile110Val | missense variant | - | NC_000004.12:g.123401919A>G | gnomAD |
rs767043237 | p.Leu111Phe | missense variant | - | NC_000004.12:g.123401924G>C | ExAC,gnomAD |
rs752075165 | p.Arg113Lys | missense variant | - | NC_000004.12:g.123401929G>A | ExAC,gnomAD |
rs752075165 | p.Arg113Thr | missense variant | - | NC_000004.12:g.123401929G>C | ExAC,gnomAD |
rs755365213 | p.Thr115Ser | missense variant | - | NC_000004.12:g.123401934A>T | ExAC,TOPMed,gnomAD |
rs755365213 | p.Thr115Ala | missense variant | - | NC_000004.12:g.123401934A>G | ExAC,TOPMed,gnomAD |
rs1022301262 | p.Ser116Thr | missense variant | - | NC_000004.12:g.123401938G>C | gnomAD |
rs753444242 | p.Ser116Gly | missense variant | - | NC_000004.12:g.123401937A>G | ExAC,TOPMed,gnomAD |
rs756834122 | p.Thr117Ser | missense variant | - | NC_000004.12:g.123401940A>T | ExAC,gnomAD |
rs1211384338 | p.Gly118Val | missense variant | - | NC_000004.12:g.123401944G>T | TOPMed |
NCI-TCGA novel | p.Ala120Val | missense variant | - | NC_000004.12:g.123401950C>T | NCI-TCGA |
rs778423708 | p.Ser122Asn | missense variant | - | NC_000004.12:g.123401956G>A | ExAC,gnomAD |
rs745330327 | p.Gly124Glu | missense variant | - | NC_000004.12:g.123401962G>A | ExAC,gnomAD |
rs1292973248 | p.Gly124Trp | missense variant | - | NC_000004.12:g.123401961G>T | TOPMed,gnomAD |
rs1307932630 | p.Asn126Ser | missense variant | - | NC_000004.12:g.123401968A>G | - |
rs757878449 | p.Ser127Gly | missense variant | - | NC_000004.12:g.123401970A>G | ExAC,gnomAD |
rs780002408 | p.Ser128Gly | missense variant | - | NC_000004.12:g.123401973A>G | ExAC,gnomAD |
rs1224884461 | p.Ala129Val | missense variant | - | NC_000004.12:g.123401977C>T | TOPMed |
rs1210748083 | p.Glu132Gln | missense variant | - | NC_000004.12:g.123401985G>C | gnomAD |
NCI-TCGA novel | p.Gln133Ter | stop gained | - | NC_000004.12:g.123401988C>T | NCI-TCGA |
rs368026966 | p.Leu136Phe | missense variant | - | NC_000004.12:g.123401999A>T | ESP,ExAC,gnomAD |
rs148920529 | p.Gly137Arg | missense variant | - | NC_000004.12:g.123402000G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs748350968 | p.Gly137Val | missense variant | - | NC_000004.12:g.123402001G>T | ExAC,gnomAD |
rs148920529 | p.Gly137Arg | missense variant | - | NC_000004.12:g.123402000G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs770093430 | p.Ser139Ter | stop gained | - | NC_000004.12:g.123402007C>A | ExAC,TOPMed,gnomAD |
rs770093430 | p.Ser139Leu | missense variant | - | NC_000004.12:g.123402007C>T | ExAC,TOPMed,gnomAD |
rs1156252534 | p.Arg143Thr | missense variant | - | NC_000004.12:g.123402019G>C | TOPMed,gnomAD |
rs180866016 | p.Pro144Leu | missense variant | - | NC_000004.12:g.123402022C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs763166544 | p.Pro144Ser | missense variant | - | NC_000004.12:g.123402021C>T | ExAC,gnomAD |
rs180866016 | p.Pro144Arg | missense variant | - | NC_000004.12:g.123402022C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs767775969 | p.Pro146Thr | missense variant | - | NC_000004.12:g.123402027C>A | ExAC,TOPMed,gnomAD |
rs767775969 | p.Pro146Ala | missense variant | - | NC_000004.12:g.123402027C>G | ExAC,TOPMed,gnomAD |
rs756921979 | p.Pro146Leu | missense variant | - | NC_000004.12:g.123402028C>T | ExAC,TOPMed,gnomAD |
rs764915721 | p.Gly147Asp | missense variant | - | NC_000004.12:g.123402031G>A | ExAC,TOPMed,gnomAD |
rs750042701 | p.His148Arg | missense variant | - | NC_000004.12:g.123402034A>G | ExAC,TOPMed,gnomAD |
rs750042701 | p.His148Leu | missense variant | - | NC_000004.12:g.123402034A>T | ExAC,TOPMed,gnomAD |
rs779563071 | p.Arg149Ser | missense variant | - | NC_000004.12:g.123402038G>C | ExAC |
rs746928184 | p.Ser150Phe | missense variant | - | NC_000004.12:g.123402040C>T | ExAC,TOPMed,gnomAD |
rs1467473390 | p.Ala153Thr | missense variant | - | NC_000004.12:g.123402048G>A | gnomAD |
NCI-TCGA novel | p.Ile154Val | missense variant | - | NC_000004.12:g.123402051A>G | NCI-TCGA |
rs374766594 | p.Ile154Phe | missense variant | - | NC_000004.12:g.123402051A>T | ESP,ExAC,TOPMed,gnomAD |
rs780874264 | p.Arg155Trp | missense variant | - | NC_000004.12:g.123402054C>T | ExAC,TOPMed,gnomAD |
rs780874264 | p.Arg155Gly | missense variant | - | NC_000004.12:g.123402054C>G | ExAC,TOPMed,gnomAD |
rs769682383 | p.Arg155Gln | missense variant | - | NC_000004.12:g.123402055G>A | ExAC,TOPMed,gnomAD |
rs769682383 | p.Arg155Pro | missense variant | - | NC_000004.12:g.123402055G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg155Leu | missense variant | - | NC_000004.12:g.123402055G>T | NCI-TCGA |
rs1306073221 | p.Thr156Ser | missense variant | - | NC_000004.12:g.123402057A>T | TOPMed |
rs773636932 | p.Gln157Ter | stop gained | - | NC_000004.12:g.123402060C>T | ExAC,gnomAD |
rs773636932 | p.Gln157Lys | missense variant | - | NC_000004.12:g.123402060C>A | ExAC,gnomAD |
rs1179227790 | p.Pro158Leu | missense variant | - | NC_000004.12:g.123402064C>T | TOPMed,gnomAD |
rs143726437 | p.Pro158Thr | missense variant | - | NC_000004.12:g.123402063C>A | 1000Genomes,ExAC,gnomAD |
rs774421542 | p.Lys159Glu | missense variant | - | NC_000004.12:g.123402066A>G | ExAC,gnomAD |
rs759990917 | p.Ile162Met | missense variant | - | NC_000004.12:g.123402077T>G | ExAC,TOPMed,gnomAD |
rs143661919 | p.Asp164Asn | missense variant | - | NC_000004.12:g.123402081G>A | ESP,ExAC,TOPMed |
rs1037464836 | p.Asp164Glu | missense variant | - | NC_000004.12:g.123402083T>A | gnomAD |
rs1037464836 | p.Asp164Glu | missense variant | - | NC_000004.12:g.123402083T>G | gnomAD |
rs1057124012 | p.Asp165Asn | missense variant | - | NC_000004.12:g.123402084G>A | TOPMed,gnomAD |
rs920304696 | p.Leu166Phe | missense variant | - | NC_000004.12:g.123402089G>C | gnomAD |
rs764433677 | p.Gly168Cys | missense variant | - | NC_000004.12:g.123402093G>T | ExAC,TOPMed,gnomAD |
rs764433677 | p.Gly168Ser | missense variant | - | NC_000004.12:g.123402093G>A | ExAC,TOPMed,gnomAD |
rs764433677 | p.Gly168Arg | missense variant | - | NC_000004.12:g.123402093G>C | ExAC,TOPMed,gnomAD |
COSM3825121 | p.Leu170Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123402101G>C | NCI-TCGA Cosmic |
rs1313426473 | p.Lys171Arg | missense variant | - | NC_000004.12:g.123402103A>G | gnomAD |
rs750092496 | p.Asp173Gly | missense variant | - | NC_000004.12:g.123402109A>G | ExAC,TOPMed,gnomAD |
rs1437329042 | p.Asp173Asn | missense variant | - | NC_000004.12:g.123402108G>A | gnomAD |
rs1233487324 | p.Leu174Pro | missense variant | - | NC_000004.12:g.123402112T>C | gnomAD |
rs1274994954 | p.Thr175Ile | missense variant | - | NC_000004.12:g.123402115C>T | TOPMed,gnomAD |
rs906180815 | p.His177Tyr | missense variant | - | NC_000004.12:g.123402120C>T | - |
rs369944717 | p.His177Pro | missense variant | - | NC_000004.12:g.123402121A>C | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.His177Asp | missense variant | - | NC_000004.12:g.123402120C>G | NCI-TCGA |
rs1271914621 | p.His177Gln | missense variant | - | NC_000004.12:g.123402122C>G | gnomAD |
rs754426228 | p.Lys178Arg | missense variant | - | NC_000004.12:g.123402124A>G | ExAC,TOPMed,gnomAD |
rs781231015 | p.Lys178Asn | missense variant | - | NC_000004.12:g.123402125G>C | ExAC,gnomAD |
rs1250628278 | p.Phe179Leu | missense variant | - | NC_000004.12:g.123402128C>G | gnomAD |
NCI-TCGA novel | p.Phe179Val | missense variant | - | NC_000004.12:g.123402126T>G | NCI-TCGA |
rs1453055762 | p.Cys181Trp | missense variant | - | NC_000004.12:g.123402134T>G | gnomAD |
rs1391165635 | p.Gln183His | missense variant | - | NC_000004.12:g.123402140G>C | gnomAD |
rs752678914 | p.Gln183Ter | stop gained | - | NC_000004.12:g.123402138C>T | ExAC,gnomAD |
rs756030670 | p.Gly185Arg | missense variant | - | NC_000004.12:g.123402144G>A | ExAC,gnomAD |
rs902343752 | p.Gly185Glu | missense variant | - | NC_000004.12:g.123402145G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Lys186Arg | missense variant | - | NC_000004.12:g.123402148A>G | NCI-TCGA |
rs1395990676 | p.Cys187Phe | missense variant | - | NC_000004.12:g.123402151G>T | gnomAD |
rs201051198 | p.Lys188Thr | missense variant | - | NC_000004.12:g.123402154A>C | TOPMed,gnomAD |
rs760600305 | p.Lys188Asn | missense variant | - | NC_000004.12:g.123402155G>T | ExAC,TOPMed,gnomAD |
rs201051198 | p.Lys188Arg | missense variant | - | NC_000004.12:g.123402154A>G | TOPMed,gnomAD |
rs369289367 | p.Lys188Gln | missense variant | - | NC_000004.12:g.123402153A>C | ESP,ExAC,gnomAD |
rs1440072165 | p.Gly190Arg | missense variant | - | NC_000004.12:g.123402159G>A | gnomAD |
rs771143455 | p.Gly190Glu | missense variant | - | NC_000004.12:g.123402160G>A | ExAC,gnomAD |
rs1053558732 | p.Glu191Ala | missense variant | - | NC_000004.12:g.123402163A>C | TOPMed |
COSM3825122 | p.Glu191Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000004.12:g.123402162G>T | NCI-TCGA Cosmic |
rs1225022544 | p.Thr193Ile | missense variant | - | NC_000004.12:g.123402169C>T | TOPMed,gnomAD |
rs1359961735 | p.Thr193Ala | missense variant | - | NC_000004.12:g.123402168A>G | TOPMed |
COSM1328704 | p.Thr193Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123402169C>A | NCI-TCGA Cosmic |
rs889670911 | p.Ala194Val | missense variant | - | NC_000004.12:g.123402172C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Ala194Ser | missense variant | - | NC_000004.12:g.123402171G>T | NCI-TCGA |
rs772009773 | p.Pro195Leu | missense variant | - | NC_000004.12:g.123402175C>T | ExAC,TOPMed,gnomAD |
COSM3825123 | p.Leu198Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123402184T>C | NCI-TCGA Cosmic |
rs769018060 | p.Ser200Thr | missense variant | - | NC_000004.12:g.123402189T>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Cys201LeuPheSerTerUnk | frameshift | - | NC_000004.12:g.123402193_123402200GTTTGGCC>- | NCI-TCGA |
rs376045682 | p.Leu202Ter | stop gained | - | NC_000004.12:g.123402196T>A | ESP,ExAC,gnomAD |
rs768635986 | p.Leu202Val | missense variant | - | NC_000004.12:g.123402195T>G | gnomAD |
rs766105212 | p.Leu202Phe | missense variant | - | NC_000004.12:g.123402197G>T | ExAC,TOPMed,gnomAD |
rs376045682 | p.Leu202Ser | missense variant | - | NC_000004.12:g.123402196T>C | ESP,ExAC,gnomAD |
rs151050902 | p.Cys204Tyr | missense variant | - | NC_000004.12:g.123402202G>A | ESP,ExAC,gnomAD |
rs759152061 | p.Asn205His | missense variant | - | NC_000004.12:g.123402204A>C | ExAC,gnomAD |
rs766923780 | p.Asn205Lys | missense variant | - | NC_000004.12:g.123402206C>A | ExAC,TOPMed,gnomAD |
rs766923780 | p.Asn205Lys | missense variant | - | NC_000004.12:g.123402206C>G | ExAC,TOPMed,gnomAD |
rs752693554 | p.Arg206Gln | missense variant | - | NC_000004.12:g.123402208G>A | ExAC,gnomAD |
rs1461030673 | p.Arg206Trp | missense variant | - | NC_000004.12:g.123402207C>T | gnomAD |
rs1244091949 | p.Cys208Tyr | missense variant | - | NC_000004.12:g.123402214G>A | gnomAD |
rs1390698144 | p.Leu209Phe | missense variant | - | NC_000004.12:g.123402216C>T | TOPMed,gnomAD |
rs1188023727 | p.Cys210Phe | missense variant | - | NC_000004.12:g.123402220G>T | TOPMed |
rs1475845838 | p.Ser211Cys | missense variant | - | NC_000004.12:g.123402223C>G | TOPMed |
rs140988860 | p.Ser211Ala | missense variant | - | NC_000004.12:g.123402222T>G | ESP |
rs1380483994 | p.Ser214Cys | missense variant | - | NC_000004.12:g.123402231A>T | TOPMed,gnomAD |
rs756048915 | p.Met215Val | missense variant | - | NC_000004.12:g.123402234A>G | ExAC,gnomAD |
rs1252185076 | p.Glu217Lys | missense variant | - | NC_000004.12:g.123402240G>A | TOPMed |
rs777739648 | p.Cys221Tyr | missense variant | - | NC_000004.12:g.123402253G>A | ExAC,gnomAD |
COSM4850874 | p.Cys223Trp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123402260C>G | NCI-TCGA Cosmic |
rs145077253 | p.Ile228Met | missense variant | - | NC_000004.12:g.123402275C>G | ESP,ExAC,TOPMed,gnomAD |
rs1305972600 | p.Phe229Leu | missense variant | - | NC_000004.12:g.123402278C>G | TOPMed |
rs779233192 | p.Ser233Pro | missense variant | - | NC_000004.12:g.123402288T>C | ExAC,gnomAD |
rs746069665 | p.Asn234Asp | missense variant | - | NC_000004.12:g.123402291A>G | ExAC,gnomAD |
rs772249078 | p.Asn234Ser | missense variant | - | NC_000004.12:g.123402292A>G | ExAC,gnomAD |
rs780045221 | p.Asp235Gly | missense variant | - | NC_000004.12:g.123402295A>G | ExAC,gnomAD |
COSM4819905 | p.Asp235Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123402294G>A | NCI-TCGA Cosmic |
rs1190299190 | p.Asp236Tyr | missense variant | - | NC_000004.12:g.123402297G>T | gnomAD |
NCI-TCGA novel | p.Asp236Asn | missense variant | - | NC_000004.12:g.123402297G>A | NCI-TCGA |
rs142173292 | p.Glu237Lys | missense variant | - | NC_000004.12:g.123402300G>A | ESP,ExAC,gnomAD |
rs777102609 | p.Gly238Arg | missense variant | - | NC_000004.12:g.123402303G>C | ExAC,gnomAD |
rs762280661 | p.Tyr241Cys | missense variant | - | NC_000004.12:g.123402313A>G | ExAC,TOPMed,gnomAD |
rs1451455343 | p.Asp243Ala | missense variant | - | NC_000004.12:g.123402319A>C | gnomAD |
rs774111531 | p.Asn244Lys | missense variant | - | NC_000004.12:g.123402323T>G | ExAC,gnomAD |
rs866445691 | p.Pro245Leu | missense variant | - | NC_000004.12:g.123402325C>T | TOPMed |
COSM3599806 | p.Pro245Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123402324C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser247Phe | missense variant | - | NC_000004.12:g.123402331C>T | NCI-TCGA |
rs1299652485 | p.Ser247Cys | missense variant | - | NC_000004.12:g.123402331C>G | TOPMed |
rs752212870 | p.Cys248Arg | missense variant | - | NC_000004.12:g.123402333T>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser249Leu | missense variant | - | NC_000004.12:g.123402337C>T | NCI-TCGA |
rs753793837 | p.His252Tyr | missense variant | - | NC_000004.12:g.123402345C>T | ExAC,gnomAD |
rs750666163 | p.Cys254Ter | stop gained | - | NC_000004.12:g.123402353C>A | ExAC,gnomAD |
rs764924905 | p.Cys254Tyr | missense variant | - | NC_000004.12:g.123402352G>A | ExAC,gnomAD |
rs750666163 | p.Cys254Trp | missense variant | - | NC_000004.12:g.123402353C>G | ExAC,gnomAD |
rs374261636 | p.Ser255Phe | missense variant | - | NC_000004.12:g.123402355C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs374261636 | p.Ser255Cys | missense variant | - | NC_000004.12:g.123402355C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs755021441 | p.Arg256Thr | missense variant | - | NC_000004.12:g.123402358G>C | ExAC,gnomAD |
rs1485436325 | p.Tyr257Cys | missense variant | - | NC_000004.12:g.123402361A>G | gnomAD |
NCI-TCGA novel | p.Gly261Glu | missense variant | - | NC_000004.12:g.123402373G>A | NCI-TCGA |
rs781715595 | p.Gly261Val | missense variant | - | NC_000004.12:g.123402373G>T | ExAC,gnomAD |
rs770209344 | p.Ala262Val | missense variant | - | NC_000004.12:g.123402376C>T | ExAC,gnomAD |
rs773382084 | p.Met263Val | missense variant | - | NC_000004.12:g.123402378A>G | ExAC,TOPMed,gnomAD |
rs1436527566 | p.Met263Ile | missense variant | - | NC_000004.12:g.123402380G>A | gnomAD |
rs745565941 | p.Ser264Phe | missense variant | - | NC_000004.12:g.123402382C>T | ExAC,TOPMed,gnomAD |
rs775260056 | p.Cys269Trp | missense variant | - | NC_000004.12:g.123402398C>G | ExAC,gnomAD |
rs1179286977 | p.Leu271Phe | missense variant | - | NC_000004.12:g.123402402C>T | TOPMed |
rs760299005 | p.Pro274Leu | missense variant | - | NC_000004.12:g.123402412C>T | ExAC,gnomAD |
rs961876940 | p.Pro274Ser | missense variant | - | NC_000004.12:g.123402411C>T | TOPMed,gnomAD |
rs760299005 | p.Pro274Arg | missense variant | - | NC_000004.12:g.123402412C>G | ExAC,gnomAD |
rs776763816 | p.Pro275Ser | missense variant | - | NC_000004.12:g.123402414C>T | ExAC,TOPMed,gnomAD |
rs200878762 | p.Pro275Leu | missense variant | - | NC_000004.12:g.123402415C>T | ExAC,TOPMed,gnomAD |
rs368008252 | p.Lys277Glu | missense variant | - | NC_000004.12:g.123402420A>G | ESP,ExAC,gnomAD |
rs1301625850 | p.Gly278Arg | missense variant | - | NC_000004.12:g.123402423G>A | TOPMed,gnomAD |
rs750140832 | p.Cys279Ser | missense variant | - | NC_000004.12:g.123402427G>C | ExAC,TOPMed,gnomAD |
rs750140832 | p.Cys279Tyr | missense variant | - | NC_000004.12:g.123402427G>A | ExAC,TOPMed,gnomAD |
rs1374752156 | p.Leu282Met | missense variant | - | NC_000004.12:g.123402435C>A | TOPMed,gnomAD |
rs751778456 | p.Cys283Phe | missense variant | - | NC_000004.12:g.123402439G>T | ExAC |
rs766629767 | p.Cys283Arg | missense variant | - | NC_000004.12:g.123402438T>C | ExAC,gnomAD |
rs1268162395 | p.Cys286Ser | missense variant | - | NC_000004.12:g.123402448G>C | TOPMed,gnomAD |
rs1389497430 | p.Cys286Arg | missense variant | - | NC_000004.12:g.123402447T>C | TOPMed |
rs370375351 | p.Tyr287Ter | stop gained | - | NC_000004.12:g.123402452T>A | ESP,TOPMed |
rs1191742583 | p.His291Leu | missense variant | - | NC_000004.12:g.123402463A>T | gnomAD |
rs1442570144 | p.His291Tyr | missense variant | - | NC_000004.12:g.123402462C>T | TOPMed |
rs748693044 | p.Arg292His | missense variant | - | NC_000004.12:g.123402466G>A | ExAC,gnomAD |
COSM1485648 | p.Arg292Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000004.12:g.123402465C>T | NCI-TCGA Cosmic |
rs1449897196 | p.Gly294Arg | missense variant | - | NC_000004.12:g.123402471G>C | gnomAD |
rs187259850 | p.Arg296Lys | missense variant | - | NC_000004.12:g.123402478G>A | 1000Genomes |
rs756537678 | p.Asn301Ser | missense variant | - | NC_000004.12:g.123402493A>G | ExAC,TOPMed,gnomAD |
rs367610616 | p.Thr302Ala | missense variant | - | NC_000004.12:g.123402495A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1301960824 | p.Tyr304His | missense variant | - | NC_000004.12:g.123402501T>C | TOPMed,gnomAD |
rs1370688324 | p.Tyr304Cys | missense variant | - | NC_000004.12:g.123402502A>G | gnomAD |
rs771387469 | p.Cys305Phe | missense variant | - | NC_000004.12:g.123402505G>T | ExAC,TOPMed,gnomAD |
rs775346634 | p.Cys305Ter | stop gained | - | NC_000004.12:g.123402506T>A | ExAC |
rs746642537 | p.Lys306Ter | stop gained | - | NC_000004.12:g.123402507A>T | ExAC |
rs1298215244 | p.Leu307Pro | missense variant | - | NC_000004.12:g.123402511T>C | gnomAD |
NCI-TCGA novel | p.Glu308Lys | missense variant | - | NC_000004.12:g.123402513G>A | NCI-TCGA |
rs768290759 | p.Ser309Asn | missense variant | - | NC_000004.12:g.123402517G>A | ExAC,TOPMed,gnomAD |
rs1226970500 | p.Ser309Arg | missense variant | - | NC_000004.12:g.123402518C>A | gnomAD |
rs775967448 | p.Cys310Trp | missense variant | - | NC_000004.12:g.123402521C>G | ExAC,gnomAD |
rs761837505 | p.Pro311Ser | missense variant | - | NC_000004.12:g.123402522C>T | ExAC,gnomAD |
rs1211718459 | p.Ser312Phe | missense variant | - | NC_000004.12:g.123402526C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser312Pro | missense variant | - | NC_000004.12:g.123402525T>C | NCI-TCGA |
rs1211718459 | p.Ser312Cys | missense variant | - | NC_000004.12:g.123402526C>G | TOPMed,gnomAD |
rs773173631 | p.Arg313Gln | missense variant | - | NC_000004.12:g.123402529G>A | ExAC,TOPMed,gnomAD |
rs765138425 | p.Arg313Trp | missense variant | - | NC_000004.12:g.123402528C>T | ExAC,TOPMed,gnomAD |
rs766150666 | p.Gln315Arg | missense variant | - | NC_000004.12:g.123402535A>G | ExAC,TOPMed,gnomAD |
rs762804313 | p.Gln315Ter | stop gained | - | NC_000004.12:g.123402534C>T | ExAC,gnomAD |
rs751794748 | p.Ser319Ter | stop gained | - | NC_000004.12:g.123402547C>G | ExAC,TOPMed,gnomAD |
rs528974183 | p.Ter320Trp | stop lost | - | NC_000004.12:g.123402551A>G | 1000Genomes |