rs1344192441 | p.Ser3Leu | missense variant | - | NC_000023.11:g.70897539G>A | TOPMed |
rs1202826814 | p.His5Tyr | missense variant | - | NC_000023.11:g.70897534G>A | TOPMed |
rs186262417 | p.Cys6Ter | stop gained | - | NC_000023.11:g.70897529G>T | 1000Genomes,TOPMed,gnomAD |
rs1250506630 | p.Cys6Ser | missense variant | - | NC_000023.11:g.70897531A>T | TOPMed |
rs1037576205 | p.Asn7Ser | missense variant | - | NC_000023.11:g.70897527T>C | TOPMed,gnomAD |
rs1320559199 | p.Arg9Cys | missense variant | - | NC_000023.11:g.70897522G>A | TOPMed,gnomAD |
rs1005238755 | p.Cys12Arg | missense variant | - | NC_000023.11:g.70897513A>G | TOPMed |
rs1168374113 | p.Asp15Asn | missense variant | - | NC_000023.11:g.70897504C>T | TOPMed |
rs1350790590 | p.Ser16Pro | missense variant | - | NC_000023.11:g.70897501A>G | TOPMed |
rs747440106 | p.Thr27Ala | missense variant | - | NC_000023.11:g.70897468T>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu33Met | missense variant | - | chrX:g.70880095G>T | NCI-TCGA |
rs141951098 | p.Val34Leu | missense variant | - | NC_000023.11:g.70880092C>G | ESP,ExAC,TOPMed,gnomAD |
rs1234114625 | p.Val34Ala | missense variant | - | NC_000023.11:g.70880091A>G | gnomAD |
rs1334521076 | p.Thr35Arg | missense variant | - | NC_000023.11:g.70880088G>C | gnomAD |
rs1291671125 | p.Pro40Ser | missense variant | - | NC_000023.11:g.70880074G>A | TOPMed,gnomAD |
rs1179943501 | p.Ile42Leu | missense variant | - | NC_000023.11:g.70880068T>A | TOPMed |
rs904176751 | p.Ala45Thr | missense variant | - | NC_000023.11:g.70880059C>T | TOPMed |
rs1470073033 | p.Ala45Val | missense variant | - | NC_000023.11:g.70880058G>A | TOPMed |
rs1412987331 | p.Arg48Thr | missense variant | - | NC_000023.11:g.70880049C>G | TOPMed |
rs1380500294 | p.Ser51Asn | missense variant | - | NC_000023.11:g.70880040C>T | gnomAD |
rs1326402590 | p.Asp52Asn | missense variant | - | NC_000023.11:g.70880038C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Asp52Asn | missense variant | - | chrX:g.70880038C>T | NCI-TCGA |
rs767439893 | p.Ile56Ser | missense variant | - | NC_000023.11:g.70880025A>C | ExAC,TOPMed,gnomAD |
rs996784363 | p.Ala62Thr | missense variant | - | NC_000023.11:g.70880008C>T | TOPMed |
COSM1315653 | p.Glu63Ter | stop gained | Variant assessed as Somatic; HIGH impact. | chrX:g.70880005C>A | NCI-TCGA Cosmic |
rs751261544 | p.Ile67Ser | missense variant | - | NC_000023.11:g.70879992A>C | ExAC,TOPMed,gnomAD |
rs756069493 | p.Ile69Val | missense variant | - | NC_000023.11:g.70873307T>C | ExAC,gnomAD |
rs1392057829 | p.Glu71Lys | missense variant | - | NC_000023.11:g.70873301C>T | gnomAD |
COSM3563034 | p.Glu71Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70873301C>T | NCI-TCGA Cosmic |
rs1224644533 | p.Met72Ile | missense variant | - | NC_000023.11:g.70873296C>T | TOPMed |
rs372882973 | p.Trp79Arg | missense variant | - | NC_000023.11:g.70873277A>G | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Gly84Arg | missense variant | - | chrX:g.70873262C>T | NCI-TCGA |
NCI-TCGA novel | p.Gly85Arg | missense variant | - | chrX:g.70873259C>T | NCI-TCGA |
COSM277651 | p.Asn90His | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70873244T>G | NCI-TCGA Cosmic |
rs763873466 | p.Glu91Lys | missense variant | - | NC_000023.11:g.70873241C>T | ExAC,TOPMed,gnomAD |
rs762516688 | p.Glu92Lys | missense variant | - | NC_000023.11:g.70873238C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Arg96Ile | missense variant | - | chrX:g.70873225C>A | NCI-TCGA |
rs756997139 | p.His98Asn | missense variant | - | NC_000023.11:g.70860934G>T | ExAC,TOPMed,gnomAD |
rs746751241 | p.His98Arg | missense variant | - | NC_000023.11:g.70860933T>C | ExAC,TOPMed,gnomAD |
rs1257803300 | p.Ala110Gly | missense variant | - | NC_000023.11:g.70860897G>C | TOPMed |
COSM6119215 | p.Ala110Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70860897G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser111Ter | stop gained | - | chrX:g.70860894G>C | NCI-TCGA |
COSM3914190 | p.Ser111Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70860894G>A | NCI-TCGA Cosmic |
rs1423488984 | p.Ala113Ser | missense variant | - | NC_000023.11:g.70860889C>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Ala113Asp | missense variant | - | chrX:g.70860888G>T | NCI-TCGA |
COSM1315652 | p.Ser114Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70860885G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser117Cys | missense variant | - | chrX:g.70860877T>A | NCI-TCGA |
rs752390103 | p.Ile118Ser | missense variant | - | NC_000023.11:g.70860873A>C | ExAC,gnomAD |
rs764706779 | p.Gln119Glu | missense variant | - | NC_000023.11:g.70860871G>C | ExAC,gnomAD |
COSM1228992 | p.Arg120Ter | stop gained | Variant assessed as Somatic; HIGH impact. | chrX:g.70860868G>A | NCI-TCGA Cosmic |
rs1486675411 | p.Arg120Ter | stop gained | - | NC_000023.11:g.70860868G>A | gnomAD |
rs1281185459 | p.Ile122Val | missense variant | - | NC_000023.11:g.70860862T>C | gnomAD |
NCI-TCGA novel | p.Met123Ile | missense variant | - | chrX:g.70860857C>T | NCI-TCGA |
rs1409837902 | p.Asn125Tyr | missense variant | - | NC_000023.11:g.70853325T>A | TOPMed |
rs1401602484 | p.Met126Val | missense variant | - | NC_000023.11:g.70853322T>C | gnomAD |
COSM4828853 | p.Met126Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70853320C>T | NCI-TCGA Cosmic |
rs1290827505 | p.Arg127Gly | missense variant | - | NC_000023.11:g.70853319T>C | TOPMed |
rs767787700 | p.Ile128Leu | missense variant | - | NC_000023.11:g.70853316T>A | TOPMed,gnomAD |
rs6525433 | p.Lys130Arg | missense variant | - | NC_000023.11:g.70853309T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1314256178 | p.Glu131Lys | missense variant | - | NC_000023.11:g.70853307C>T | TOPMed |
COSM3973817 | p.Glu131Ter | stop gained | Variant assessed as Somatic; HIGH impact. | chrX:g.70853307C>A | NCI-TCGA Cosmic |
rs1231349120 | p.Glu131Asp | missense variant | - | NC_000023.11:g.70853305T>A | TOPMed |
NCI-TCGA novel | p.Asp134His | missense variant | - | chrX:g.70853298C>G | NCI-TCGA |
COSM457934 | p.Ala135Val | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70853294G>A | NCI-TCGA Cosmic |
rs746007852 | p.Asn137Thr | missense variant | - | NC_000023.11:g.70853288T>G | ExAC,gnomAD |
NCI-TCGA novel | p.Phe138Val | missense variant | - | chrX:g.70853286A>C | NCI-TCGA |
NCI-TCGA novel | p.Leu139Ter | frameshift | - | chrX:g.70853284A>- | NCI-TCGA |
rs770843069 | p.Ile140Met | missense variant | - | NC_000023.11:g.70853278G>C | ExAC,TOPMed,gnomAD |
rs746940663 | p.Ala141Thr | missense variant | - | NC_000023.11:g.70853277C>T | ExAC |
rs1187226342 | p.Glu143Val | missense variant | - | NC_000023.11:g.70853270T>A | gnomAD |
COSM1124524 | p.Glu143Ter | stop gained | Variant assessed as Somatic; HIGH impact. | chrX:g.70853271C>A | NCI-TCGA Cosmic |
rs777581837 | p.Glu143Lys | missense variant | - | NC_000023.11:g.70853271C>T | ExAC |
rs191462531 | p.Gln146Arg | missense variant | - | NC_000023.11:g.70853261T>C | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Ala148Val | missense variant | - | chrX:g.70853255G>A | NCI-TCGA |
rs996795407 | p.Val149Leu | missense variant | - | NC_000023.11:g.70853253C>A | TOPMed |
NCI-TCGA novel | p.Ala150Asp | missense variant | - | chrX:g.70853249G>T | NCI-TCGA |
NCI-TCGA novel | p.Leu152Gln | missense variant | - | chrX:g.70853149A>T | NCI-TCGA |
rs746945464 | p.Tyr156His | missense variant | - | NC_000023.11:g.70853138A>G | ExAC,gnomAD |
rs773083176 | p.Val157Ile | missense variant | - | NC_000023.11:g.70853135C>T | ExAC,TOPMed,gnomAD |
rs773083176 | p.Val157Ile | missense variant | - | chrX:g.70853135C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs181134374 | p.Lys158Gln | missense variant | - | NC_000023.11:g.70853132T>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1294569476 | p.Lys158Asn | missense variant | - | NC_000023.11:g.70853130T>G | TOPMed |
rs897271752 | p.Ile160Phe | missense variant | - | NC_000023.11:g.70853126T>A | TOPMed |
COSM1124523 | p.Arg162Met | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70853119C>A | NCI-TCGA Cosmic |
rs1468763544 | p.Ser163Arg | missense variant | - | NC_000023.11:g.70853117T>G | gnomAD |
rs898803761 | p.Pro165Ser | missense variant | - | NC_000023.11:g.70853111G>A | TOPMed,gnomAD |
rs1300917198 | p.Asp168Gly | missense variant | - | NC_000023.11:g.70853101T>C | TOPMed |
rs747871574 | p.Leu169Phe | missense variant | - | NC_000023.11:g.70853097C>G | ExAC,TOPMed |
rs1444272112 | p.Thr170Ser | missense variant | - | NC_000023.11:g.70853096T>A | gnomAD |
rs143246552 | p.Met171Val | missense variant | - | NC_000023.11:g.70853093T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
RCV000173008 | p.Met171Val | missense variant | Spermatogenic failure, X-linked, 2 (SPGFX2) | NC_000023.11:g.70853093T>C | ClinVar |
rs1295740489 | p.Glu172Asp | missense variant | - | NC_000023.11:g.70853088C>A | gnomAD |
rs1341488009 | p.Thr175Ala | missense variant | - | NC_000023.11:g.70853081T>C | TOPMed |
rs1365016323 | p.Glu177Lys | missense variant | - | NC_000023.11:g.70853075C>T | TOPMed,gnomAD |
rs1296061122 | p.Ser178Asn | missense variant | - | NC_000023.11:g.70853071C>T | gnomAD |
rs1247146060 | p.Ser178Gly | missense variant | - | NC_000023.11:g.70853072T>C | TOPMed |
rs779587803 | p.Asp179Asn | missense variant | - | NC_000023.11:g.70853069C>T | ExAC,gnomAD |
rs1489381711 | p.His180Leu | missense variant | - | NC_000023.11:g.70853065T>A | TOPMed |
rs375000923 | p.Val183Met | missense variant | - | NC_000023.11:g.70853057C>T | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Ser185Cys | missense variant | - | chrX:g.70853050G>C | NCI-TCGA |
NCI-TCGA novel | p.Ala191Thr | missense variant | - | chrX:g.70833593C>T | NCI-TCGA |
rs1298977936 | p.Ala193Thr | missense variant | - | NC_000023.11:g.70833587C>T | gnomAD |
NCI-TCGA novel | p.Ala193SerPheSerTerUnkUnk | frameshift | - | chrX:g.70833587_70833588insAACT | NCI-TCGA |
rs779629000 | p.Gln194Arg | missense variant | - | NC_000023.11:g.70833583T>C | ExAC,TOPMed,gnomAD |
rs149131292 | p.Asp196Asn | missense variant | - | NC_000023.11:g.70833578C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1175408403 | p.Gln198Arg | missense variant | - | NC_000023.11:g.70833571T>C | gnomAD |
rs1341513691 | p.Ser201Phe | missense variant | - | NC_000023.11:g.70833562G>A | TOPMed |
rs370291538 | p.Met202Thr | missense variant | - | NC_000023.11:g.70833559A>G | ESP,ExAC,gnomAD |
rs1450617584 | p.Met202Ile | missense variant | - | NC_000023.11:g.70833558C>T | TOPMed |
NCI-TCGA novel | p.Gln206Leu | missense variant | - | chrX:g.70833547T>A | NCI-TCGA |
rs1414528872 | p.Asp209Asn | missense variant | - | NC_000023.11:g.70833539C>T | gnomAD |
COSM1469097 | p.Asp209Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70833539C>A | NCI-TCGA Cosmic |
rs1196396837 | p.Met210Thr | missense variant | - | NC_000023.11:g.70833535A>G | gnomAD |
rs1420664018 | p.Met212Thr | missense variant | - | NC_000023.11:g.70833529A>G | gnomAD |
NCI-TCGA novel | p.Leu221Val | missense variant | - | chrX:g.70806781G>C | NCI-TCGA |
rs1455114798 | p.His222Tyr | missense variant | - | NC_000023.11:g.70806778G>A | gnomAD |
NCI-TCGA novel | p.Gln233Lys | missense variant | - | chrX:g.70806745G>T | NCI-TCGA |
NCI-TCGA novel | p.Lys234Asn | missense variant | - | chrX:g.70806740C>A | NCI-TCGA |
rs768423064 | p.Asn236Asp | missense variant | - | NC_000023.11:g.70806736T>C | ExAC,gnomAD |
rs149967739 | p.Tyr238Cys | missense variant | - | NC_000023.11:g.70806729T>C | ESP,gnomAD |
rs775355719 | p.Ser242Tyr | missense variant | - | chrX:g.70806717G>T | NCI-TCGA |
rs775355719 | p.Ser242Tyr | missense variant | - | NC_000023.11:g.70806717G>T | ExAC,gnomAD |
rs1233129234 | p.Gln247Lys | missense variant | - | NC_000023.11:g.70744218G>T | gnomAD |
COSM3563032 | p.Ser248Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70744214C>T | NCI-TCGA Cosmic |
COSM1124522 | p.Ser248Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70744214C>A | NCI-TCGA Cosmic |
rs762509635 | p.Tyr249Phe | missense variant | - | NC_000023.11:g.70744211T>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1352574436 | p.Asp250His | missense variant | - | NC_000023.11:g.70744209C>G | TOPMed |
rs1249191150 | p.Asp250Val | missense variant | - | NC_000023.11:g.70744208T>A | gnomAD |
NCI-TCGA novel | p.Asp250Ala | missense variant | - | chrX:g.70744208T>G | NCI-TCGA |
rs767565935 | p.Ile251Phe | missense variant | - | NC_000023.11:g.70744206T>A | ExAC,TOPMed |
rs1294101701 | p.Met254Ile | missense variant | - | NC_000023.11:g.70744195C>T | TOPMed |
NCI-TCGA novel | p.Met254Thr | missense variant | - | chrX:g.70744196A>G | NCI-TCGA |
rs757383142 | p.Asp255Asn | missense variant | - | NC_000023.11:g.70744194C>T | ExAC,gnomAD |
rs751491935 | p.Asp255Gly | missense variant | - | NC_000023.11:g.70744193T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Lys256Glu | missense variant | - | chrX:g.70744191T>C | NCI-TCGA |
rs762957753 | p.Thr259Ile | missense variant | - | NC_000023.11:g.70744181G>A | ExAC,TOPMed,gnomAD |
rs376793868 | p.Thr259Ala | missense variant | - | NC_000023.11:g.70744182T>C | ESP,ExAC,gnomAD |
rs762957753 | p.Thr259Ile | missense variant | - | chrX:g.70744181G>A | NCI-TCGA |
rs376793868 | p.Thr259Ser | missense variant | - | NC_000023.11:g.70744182T>A | ESP,ExAC,gnomAD |
rs1236503664 | p.Gly260Arg | missense variant | - | NC_000023.11:g.70744179C>T | TOPMed |
rs775098071 | p.Pro261Ser | missense variant | - | NC_000023.11:g.70744176G>A | ExAC,gnomAD |
rs1283604357 | p.Lys266Asn | missense variant | - | NC_000023.11:g.70740791T>A | TOPMed |
COSM6119219 | p.Val267Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70740790C>T | NCI-TCGA Cosmic |
COSM3424917 | p.Leu268Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70740787G>T | NCI-TCGA Cosmic |
rs1164466971 | p.Arg269Gln | missense variant | - | NC_000023.11:g.70740783C>T | TOPMed,gnomAD |
rs756553436 | p.Arg269Trp | missense variant | - | NC_000023.11:g.70740784G>A | ExAC,gnomAD |
rs781457497 | p.Thr273Met | missense variant | - | NC_000023.11:g.70740771G>A | ExAC,TOPMed,gnomAD |
rs370599644 | p.Asn274Ser | missense variant | - | NC_000023.11:g.70740768T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs764252789 | p.Tyr275Cys | missense variant | - | NC_000023.11:g.70740765T>C | ExAC,gnomAD |
COSM1469096 | p.Trp278Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70740756C>A | NCI-TCGA Cosmic |
rs996232982 | p.Thr281Ala | missense variant | - | NC_000023.11:g.70740748T>C | gnomAD |
NCI-TCGA novel | p.Tyr283His | missense variant | - | chrX:g.70740742A>G | NCI-TCGA |
rs1479630994 | p.Tyr284Cys | missense variant | - | NC_000023.11:g.70740738T>C | gnomAD |
rs776556073 | p.Asp285Tyr | missense variant | - | NC_000023.11:g.70740736C>A | ExAC,TOPMed,gnomAD |
rs776556073 | p.Asp285Asn | missense variant | - | chrX:g.70740736C>T | NCI-TCGA |
rs776556073 | p.Asp285Asn | missense variant | - | NC_000023.11:g.70740736C>T | ExAC,TOPMed,gnomAD |
rs1453413711 | p.Leu288Phe | missense variant | - | NC_000023.11:g.70740727G>A | TOPMed |
rs375896248 | p.Asn289Ser | missense variant | - | NC_000023.11:g.70740723T>C | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn292Thr | missense variant | - | chrX:g.70740714T>G | NCI-TCGA |
rs372375453 | p.Glu297Lys | missense variant | - | NC_000023.11:g.70725343C>T | ESP,ExAC,TOPMed,gnomAD |
rs368140818 | p.His298Tyr | missense variant | - | NC_000023.11:g.70725340G>A | ESP,ExAC,TOPMed,gnomAD |
COSM25584 | p.Ser301Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70725330G>A | NCI-TCGA Cosmic |
COSM4841191 | p.Ser301Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70725330G>T | NCI-TCGA Cosmic |
COSM1715107 | p.Met308Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70725308C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Lys309Asn | missense variant | - | chrX:g.70725305T>G | NCI-TCGA |
rs1442546702 | p.Leu311Phe | missense variant | - | NC_000023.11:g.70725301G>A | gnomAD |
rs747262390 | p.Gly314Ser | missense variant | - | NC_000023.11:g.70725292C>T | ExAC,TOPMed,gnomAD |
rs575754903 | p.Glu315Lys | missense variant | - | NC_000023.11:g.70725289C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs778845628 | p.Ser317Cys | missense variant | - | NC_000023.11:g.70725282G>C | ExAC,gnomAD |
COSM1124520 | p.Ser317Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70725283A>G | NCI-TCGA Cosmic |
rs1312102683 | p.Glu319Lys | missense variant | - | NC_000023.11:g.70725277C>T | TOPMed |
NCI-TCGA novel | p.Glu319Lys | missense variant | - | chrX:g.70725277C>T | NCI-TCGA |
rs1414225026 | p.Glu320Asp | missense variant | - | NC_000023.11:g.70725272T>A | gnomAD |
rs1014233938 | p.Glu323Asp | missense variant | - | NC_000023.11:g.70725263T>G | TOPMed,gnomAD |
rs914609885 | p.Val325Ala | missense variant | - | NC_000023.11:g.70722693A>G | TOPMed |
COSM4862675 | p.Val325Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70722693A>T | NCI-TCGA Cosmic |
rs1263202185 | p.Met326Val | missense variant | - | NC_000023.11:g.70722691T>C | TOPMed |
NCI-TCGA novel | p.His330Tyr | missense variant | - | chrX:g.70722679G>A | NCI-TCGA |
rs1478507641 | p.Leu331Arg | missense variant | - | NC_000023.11:g.70722675A>C | TOPMed |
rs1157252761 | p.Asp332Val | missense variant | - | NC_000023.11:g.70722672T>A | gnomAD |
rs1325231564 | p.Met333Val | missense variant | - | NC_000023.11:g.70722670T>C | gnomAD |
rs1476208283 | p.Asp336Gly | missense variant | - | NC_000023.11:g.70722660T>C | gnomAD |
NCI-TCGA novel | p.Asp336Gly | missense variant | - | chrX:g.70722660T>C | NCI-TCGA |
rs374217762 | p.Asn340Lys | missense variant | - | NC_000023.11:g.70722647G>T | ESP,ExAC,TOPMed,gnomAD |
rs1471807161 | p.Ile341Val | missense variant | - | NC_000023.11:g.70722646T>C | gnomAD |
rs1391048608 | p.Ala342Val | missense variant | - | NC_000023.11:g.70722642G>A | gnomAD |
COSM4380213 | p.His348Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70722625G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Arg350LysPheSerTerUnkUnk | frameshift | - | chrX:g.70722618_70722619insT | NCI-TCGA |
NCI-TCGA novel | p.Glu351Ter | stop gained | - | chrX:g.70682824C>A | NCI-TCGA |
rs1164088818 | p.Glu351Gly | missense variant | - | NC_000023.11:g.70682823T>C | gnomAD |
NCI-TCGA novel | p.Ser352Tyr | missense variant | - | chrX:g.70682820G>T | NCI-TCGA |
COSM1124519 | p.Ser352Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70682820G>A | NCI-TCGA Cosmic |
rs1056191384 | p.Phe355Ser | missense variant | - | NC_000023.11:g.70682811A>G | TOPMed |
rs760003842 | p.Thr359Met | missense variant | - | chrX:g.70682799G>A | NCI-TCGA |
rs760003842 | p.Thr359Met | missense variant | - | NC_000023.11:g.70682799G>A | ExAC,gnomAD |
rs761167331 | p.His362Asn | missense variant | - | NC_000023.11:g.70682791G>T | ExAC,gnomAD |
COSM1124518 | p.Glu363Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70682788C>T | NCI-TCGA Cosmic |
rs201471690 | p.Arg364His | missense variant | - | NC_000023.11:g.70682784C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs773463882 | p.Arg364Cys | missense variant | - | chrX:g.70682785G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs773463882 | p.Arg364Gly | missense variant | - | NC_000023.11:g.70682785G>C | ExAC,TOPMed,gnomAD |
rs773463882 | p.Arg364Cys | missense variant | - | NC_000023.11:g.70682785G>A | ExAC,TOPMed,gnomAD |
rs1344575473 | p.Phe365Cys | missense variant | - | NC_000023.11:g.70682781A>C | TOPMed |
rs748351059 | p.Lys366Gln | missense variant | - | NC_000023.11:g.70682779T>G | ExAC,gnomAD |
rs1488563150 | p.Lys366Thr | missense variant | - | NC_000023.11:g.70682778T>G | gnomAD |
rs774542802 | p.Ser368Leu | missense variant | - | NC_000023.11:g.70682772G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu369Lys | missense variant | - | chrX:g.70682770C>T | NCI-TCGA |
rs977597709 | p.Ile371Asn | missense variant | - | NC_000023.11:g.70682763A>T | gnomAD |
rs977597709 | p.Ile371Thr | missense variant | - | NC_000023.11:g.70682763A>G | gnomAD |
rs1277438610 | p.Ile371Leu | missense variant | - | NC_000023.11:g.70682764T>G | gnomAD |
COSM5066585 | p.Gly372Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70682760C>T | NCI-TCGA Cosmic |
COSM6119224 | p.Leu375Met | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70682752G>T | NCI-TCGA Cosmic |
rs1388885484 | p.Asp380Gly | missense variant | - | NC_000023.11:g.70682736T>C | gnomAD |
rs749226768 | p.Met381Val | missense variant | - | NC_000023.11:g.70682734T>C | ExAC,gnomAD |
COSM6187499 | p.Lys386Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70682717C>A | NCI-TCGA Cosmic |
rs1169164404 | p.Leu390Pro | missense variant | - | NC_000023.11:g.70682706A>G | gnomAD |
rs1372440853 | p.Leu390Ile | missense variant | - | NC_000023.11:g.70682707G>T | gnomAD |
NCI-TCGA novel | p.Leu390Arg | missense variant | - | chrX:g.70682706A>C | NCI-TCGA |
NCI-TCGA novel | p.Lys392Asn | missense variant | - | chrX:g.70682699C>A | NCI-TCGA |
NCI-TCGA novel | p.Ile395Met | missense variant | - | chrX:g.70682690A>C | NCI-TCGA |
rs756129568 | p.Glu396Lys | missense variant | - | NC_000023.11:g.70682689C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Glu397Ter | stop gained | - | chrX:g.70682686C>A | NCI-TCGA |
rs1175350982 | p.Ile398Thr | missense variant | - | NC_000023.11:g.70682682A>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Phe399Leu | missense variant | - | chrX:g.70682678A>T | NCI-TCGA |
rs1433539772 | p.Leu400Ser | missense variant | - | NC_000023.11:g.70682676A>G | gnomAD |
rs150528179 | p.Gln403Arg | missense variant | - | NC_000023.11:g.70678883T>C | ESP,ExAC,gnomAD |
rs150528179 | p.Gln403Leu | missense variant | - | NC_000023.11:g.70678883T>A | ESP,ExAC,gnomAD |
rs1316679274 | p.Gly405Glu | missense variant | - | NC_000023.11:g.70678877C>T | gnomAD |
rs768856343 | p.Glu411Asp | missense variant | - | NC_000023.11:g.70678858T>A | ExAC,gnomAD |
rs775722432 | p.Trp415Cys | missense variant | - | NC_000023.11:g.70678846C>A | ExAC,TOPMed,gnomAD |
rs1192348306 | p.Leu416Phe | missense variant | - | NC_000023.11:g.70678843T>G | TOPMed |
rs769718746 | p.His417Gln | missense variant | - | NC_000023.11:g.70678840G>C | ExAC,TOPMed,gnomAD |
rs745821043 | p.Leu420Val | missense variant | - | NC_000023.11:g.70678833G>C | ExAC,TOPMed,gnomAD |
COSM4862558 | p.Trp421Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70678829C>G | NCI-TCGA Cosmic |
rs1392568993 | p.Ala425Thr | missense variant | - | NC_000023.11:g.70678818C>T | TOPMed |
NCI-TCGA novel | p.Ala425Thr | missense variant | - | chrX:g.70678818C>T | NCI-TCGA |
rs746657583 | p.Ser426Arg | missense variant | - | NC_000023.11:g.70678813A>C | ExAC,TOPMed,gnomAD |
COSM3992563 | p.Ser426Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70678814C>T | NCI-TCGA Cosmic |
rs1016690543 | p.Ser427Asn | missense variant | - | NC_000023.11:g.70678811C>T | TOPMed,gnomAD |
COSM292828 | p.Phe428LeuPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | chrX:g.70678807A>- | NCI-TCGA Cosmic |
COSM3845269 | p.Glu429Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70678806C>T | NCI-TCGA Cosmic |
rs1269049143 | p.Thr434Ser | missense variant | - | NC_000023.11:g.70670501G>C | gnomAD |
rs775667438 | p.Asp435Ala | missense variant | - | NC_000023.11:g.70670498T>G | ExAC,TOPMed,gnomAD |
rs1234421331 | p.Ala436Thr | missense variant | - | NC_000023.11:g.70670496C>T | TOPMed |
COSM6008711 | p.Ala436Val | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70670495G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Leu437Ile | missense variant | - | chrX:g.70670493G>T | NCI-TCGA |
NCI-TCGA novel | p.Gln438His | missense variant | - | chrX:g.70670488T>A | NCI-TCGA |
rs759491904 | p.Tyr441Cys | missense variant | - | NC_000023.11:g.70670480T>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser443Tyr | missense variant | - | chrX:g.70670474G>T | NCI-TCGA |
rs746739636 | p.Thr449Ile | missense variant | - | NC_000023.11:g.70670456G>A | ExAC,gnomAD |
rs199871594 | p.Thr449Ala | missense variant | - | NC_000023.11:g.70670457T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Thr449Ser | missense variant | - | chrX:g.70670456G>C | NCI-TCGA |
rs1365611506 | p.Asp450Glu | missense variant | - | NC_000023.11:g.70670452A>C | gnomAD |
rs4844247 | p.Glu451Lys | missense variant | - | NC_000023.11:g.70670451C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Met452Ile | missense variant | - | chrX:g.70670446C>T | NCI-TCGA |
rs1392265395 | p.Phe456Leu | missense variant | - | NC_000023.11:g.70670436A>G | gnomAD |
rs747838848 | p.Thr457Ser | missense variant | - | NC_000023.11:g.70670432G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Asn462ThrPheSerTerUnk | frameshift | - | chrX:g.70670417T>- | NCI-TCGA |
NCI-TCGA novel | p.Ala464Thr | missense variant | - | chrX:g.70670412C>T | NCI-TCGA |
rs1456954813 | p.Cys465Gly | missense variant | - | NC_000023.11:g.70670409A>C | gnomAD |
rs941159712 | p.Leu473Val | missense variant | - | NC_000023.11:g.70670385G>C | gnomAD |
COSM3563030 | p.Asp474Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70670382C>T | NCI-TCGA Cosmic |
rs1323780348 | p.Val480Met | missense variant | - | NC_000023.11:g.70651540C>T | gnomAD |
NCI-TCGA novel | p.Glu484Lys | missense variant | - | chrX:g.70651528C>T | NCI-TCGA |
NCI-TCGA novel | p.Arg485Gln | missense variant | - | chrX:g.70651524C>T | NCI-TCGA |
COSM1497343 | p.Arg485Ter | stop gained | Variant assessed as Somatic; HIGH impact. | chrX:g.70651525G>A | NCI-TCGA Cosmic |
rs1385768042 | p.Arg485Gln | missense variant | - | NC_000023.11:g.70651524C>T | gnomAD |
rs759598658 | p.Asp487Asn | missense variant | - | NC_000023.11:g.70651519C>T | ExAC,gnomAD |
rs770715653 | p.Arg489Thr | missense variant | - | NC_000023.11:g.70651512C>G | ExAC,gnomAD |
rs1210524250 | p.Arg489Gly | missense variant | - | NC_000023.11:g.70651513T>C | TOPMed |
rs770715653 | p.Arg489Lys | missense variant | - | NC_000023.11:g.70651512C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Asn490Tyr | missense variant | - | chrX:g.70651510T>A | NCI-TCGA |
rs760637499 | p.Asn490Ser | missense variant | - | NC_000023.11:g.70651509T>C | ExAC,gnomAD |
rs772959829 | p.Val491Ile | missense variant | - | NC_000023.11:g.70651507C>T | ExAC,gnomAD |
rs771905076 | p.Phe492Cys | missense variant | - | NC_000023.11:g.70651503A>C | ExAC,gnomAD |
COSM4862159 | p.Gln494Ter | stop gained | Variant assessed as Somatic; HIGH impact. | chrX:g.70651498G>A | NCI-TCGA Cosmic |
rs1207215808 | p.Ile497Met | missense variant | - | NC_000023.11:g.70651487T>C | gnomAD |
rs1266790102 | p.Ile497Arg | missense variant | - | NC_000023.11:g.70651488A>C | gnomAD |
rs144438018 | p.Ile497Val | missense variant | - | NC_000023.11:g.70651489T>C | ESP,ExAC,TOPMed,gnomAD |
rs1263475450 | p.Ile503Val | missense variant | - | NC_000023.11:g.70651471T>C | TOPMed,gnomAD |
rs778499884 | p.Ile503Thr | missense variant | - | NC_000023.11:g.70651470A>G | ExAC |
NCI-TCGA novel | p.Glu504Gln | missense variant | - | chrX:g.70651468C>G | NCI-TCGA |
rs1483378881 | p.Glu504Gln | missense variant | - | NC_000023.11:g.70651468C>G | gnomAD |
COSM4901803 | p.Gly505Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70651465C>T | NCI-TCGA Cosmic |
rs144149425 | p.Asn506Lys | missense variant | - | NC_000023.11:g.70651460G>T | ESP,ExAC,TOPMed,gnomAD |
rs144149425 | p.Asn506Lys | missense variant | - | NC_000023.11:g.70651460G>C | ESP,ExAC,TOPMed,gnomAD |
rs748692382 | p.Ser507Cys | missense variant | - | NC_000023.11:g.70651458G>C | ExAC,TOPMed,gnomAD |
rs1225961297 | p.Ser507Pro | missense variant | - | NC_000023.11:g.70651459A>G | TOPMed,gnomAD |
rs1225961297 | p.Ser507Thr | missense variant | - | NC_000023.11:g.70651459A>T | TOPMed,gnomAD |
rs748692382 | p.Ser507Tyr | missense variant | - | NC_000023.11:g.70651458G>T | ExAC,TOPMed,gnomAD |
rs779642423 | p.Glu508Lys | missense variant | - | NC_000023.11:g.70651456C>T | ExAC,gnomAD |
COSM1124516 | p.Arg509Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70651452C>A | NCI-TCGA Cosmic |
COSM3563029 | p.Arg509Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70651452C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ala513Val | missense variant | - | chrX:g.70629726G>A | NCI-TCGA |
rs768148480 | p.Ala513Thr | missense variant | - | NC_000023.11:g.70629727C>T | ExAC,gnomAD |
rs748997672 | p.Thr516Ala | missense variant | - | NC_000023.11:g.70629718T>C | ExAC,gnomAD |
rs760892950 | p.Thr516Ile | missense variant | - | NC_000023.11:g.70629717G>A | 1000Genomes,ExAC,gnomAD |
rs1351844566 | p.Leu517Val | missense variant | - | NC_000023.11:g.70629715A>C | TOPMed |
NCI-TCGA novel | p.Glu518Asp | missense variant | - | chrX:g.70629710C>A | NCI-TCGA |
rs147097227 | p.Asn519Thr | missense variant | - | NC_000023.11:g.70629708T>G | ESP,ExAC,TOPMed,gnomAD |
rs1278948309 | p.Asn519His | missense variant | - | NC_000023.11:g.70629709T>G | TOPMed |
NCI-TCGA novel | p.Asp523Asn | missense variant | - | chrX:g.70629697C>T | NCI-TCGA |
rs1335352653 | p.Asp523His | missense variant | - | NC_000023.11:g.70629697C>G | gnomAD |
rs1220744701 | p.Ser526Pro | missense variant | - | NC_000023.11:g.70629688A>G | TOPMed |
rs778488744 | p.Glu527Gly | missense variant | - | NC_000023.11:g.70629684T>C | ExAC,TOPMed,gnomAD |
rs778488744 | p.Glu527Val | missense variant | - | NC_000023.11:g.70629684T>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu527ValPheSerTerUnkUnk | frameshift | - | chrX:g.70629684_70629685insAGACACAGAAGAGACCTTTA | NCI-TCGA |
rs748403753 | p.Asp528Gly | missense variant | - | NC_000023.11:g.70629681T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Asp528LeuPheSerTerUnk | frameshift | - | chrX:g.70629682_70629683insAG | NCI-TCGA |
COSM6187503 | p.Asp530Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70629674A>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ala533Thr | missense variant | - | chrX:g.70629667C>T | NCI-TCGA |
COSM3563028 | p.Glu534Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70629664C>T | NCI-TCGA Cosmic |
rs1175422491 | p.Glu534Lys | missense variant | - | NC_000023.11:g.70629664C>T | gnomAD |
NCI-TCGA novel | p.Met540Val | missense variant | - | chrX:g.70629646T>C | NCI-TCGA |
rs755124384 | p.Leu544Ser | missense variant | - | NC_000023.11:g.70629633A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Glu551Asp | missense variant | - | chrX:g.70629611C>A | NCI-TCGA |
rs749468065 | p.Gln555Lys | missense variant | - | NC_000023.11:g.70624915G>T | ExAC |
COSM1132275 | p.Ile556Val | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70624912T>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Leu562Trp | missense variant | - | chrX:g.70624893A>C | NCI-TCGA |
NCI-TCGA novel | p.Leu565Ser | missense variant | - | chrX:g.70624884A>G | NCI-TCGA |
NCI-TCGA novel | p.Ala566Ser | missense variant | - | chrX:g.70624882C>A | NCI-TCGA |
COSM1228993 | p.Leu576Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70624852G>T | NCI-TCGA Cosmic |
rs756344129 | p.Thr577Ile | missense variant | - | NC_000023.11:g.70624848G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Ala578Thr | missense variant | - | chrX:g.70624846C>T | NCI-TCGA |
rs1249602743 | p.Val579Ile | missense variant | - | NC_000023.11:g.70624843C>T | gnomAD |
COSM4898505 | p.Lys580Met | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70624839T>A | NCI-TCGA Cosmic |
rs1438744662 | p.Leu583Val | missense variant | - | NC_000023.11:g.70623999G>C | TOPMed,gnomAD |
rs1350493086 | p.Arg584His | missense variant | - | NC_000023.11:g.70623995C>T | TOPMed,gnomAD |
rs867999229 | p.Arg584Cys | missense variant | - | NC_000023.11:g.70623996G>A | TOPMed |
COSM1715106 | p.Arg584His | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70623995C>T | NCI-TCGA Cosmic |
rs867999229 | p.Arg584Ser | missense variant | - | NC_000023.11:g.70623996G>T | TOPMed |
rs759282918 | p.Leu587Ile | missense variant | - | NC_000023.11:g.70623987G>T | ExAC,gnomAD |
rs1422599964 | p.Pro588Leu | missense variant | - | NC_000023.11:g.70623983G>A | gnomAD |
NCI-TCGA novel | p.Ala591Thr | missense variant | - | chrX:g.70623975C>T | NCI-TCGA |
rs776240375 | p.Met593Ile | missense variant | - | NC_000023.11:g.70623967C>A | ExAC,gnomAD |
rs770614604 | p.Pro594Leu | missense variant | - | chrX:g.70623965G>A | NCI-TCGA |
rs770614604 | p.Pro594Leu | missense variant | - | NC_000023.11:g.70623965G>A | ExAC |
rs1448619578 | p.Glu597Lys | missense variant | - | NC_000023.11:g.70623957C>T | gnomAD |
COSM258165 | p.Glu602Ter | stop gained | Variant assessed as Somatic; HIGH impact. | chrX:g.70610536C>A | NCI-TCGA Cosmic |
rs367895713 | p.Met603Val | missense variant | - | NC_000023.11:g.70610533T>C | ESP,ExAC,TOPMed,gnomAD |
rs753602584 | p.Asp604Asn | missense variant | - | NC_000023.11:g.70610530C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg605Gln | missense variant | - | chrX:g.70610526C>T | NCI-TCGA |
COSM1124514 | p.Arg605Ter | stop gained | Variant assessed as Somatic; HIGH impact. | chrX:g.70610527G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Leu607Ser | missense variant | - | chrX:g.70610520A>G | NCI-TCGA |
rs200375710 | p.Cys609Tyr | missense variant | - | NC_000023.11:g.70610514C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg612Lys | missense variant | - | chrX:g.70610505C>T | NCI-TCGA |
rs769159981 | p.Arg612Ser | missense variant | - | NC_000023.11:g.70610504T>G | ExAC,TOPMed,gnomAD |
rs748136631 | p.Val615Leu | missense variant | - | NC_000023.11:g.70609172C>A | ExAC,gnomAD |
rs899490660 | p.Val615Ala | missense variant | - | NC_000023.11:g.70609171A>G | TOPMed |
rs1458382171 | p.Leu617Phe | missense variant | - | NC_000023.11:g.70609166G>A | gnomAD |
rs139166251 | p.Pro620Arg | missense variant | - | NC_000023.11:g.70609156G>C | ESP,ExAC,TOPMed,gnomAD |
rs1356655384 | p.Pro620Ala | missense variant | - | NC_000023.11:g.70609157G>C | TOPMed |
rs754888467 | p.Glu624Lys | missense variant | - | NC_000023.11:g.70609145C>T | ExAC,TOPMed,gnomAD |
rs1419073971 | p.Ala625Gly | missense variant | - | NC_000023.11:g.70609141G>C | gnomAD |
rs753691449 | p.Leu626Ser | missense variant | - | NC_000023.11:g.70609138A>G | ExAC |
rs766000467 | p.Glu629Gln | missense variant | - | NC_000023.11:g.70609130C>G | ExAC,TOPMed,gnomAD |
rs1483764414 | p.Asn633Lys | missense variant | - | NC_000023.11:g.70609116A>T | TOPMed,gnomAD |
COSM6119230 | p.Gln636Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70609108T>G | NCI-TCGA Cosmic |
rs368829218 | p.Trp637Arg | missense variant | - | NC_000023.11:g.70609106A>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg639Gln | missense variant | - | chrX:g.70609099C>T | NCI-TCGA |
rs1184455196 | p.Thr641Ser | missense variant | - | NC_000023.11:g.70609094T>A | TOPMed |
rs1410393922 | p.Ala642Thr | missense variant | - | NC_000023.11:g.70609091C>T | gnomAD |
rs1298337752 | p.Leu645Phe | missense variant | - | NC_000023.11:g.70607019C>A | TOPMed |
NCI-TCGA novel | p.Val654Leu | missense variant | - | chrX:g.70606994C>A | NCI-TCGA |
COSM3563025 | p.Met655Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70606989C>T | NCI-TCGA Cosmic |
COSM72948 | p.Met655Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70606990A>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Met656Ile | missense variant | - | chrX:g.70606986C>T | NCI-TCGA |
rs754977606 | p.Ile661Thr | missense variant | - | NC_000023.11:g.70606972A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Ile661TyrPheSerTerUnk | frameshift | - | chrX:g.70606973_70606974insA | NCI-TCGA |
NCI-TCGA novel | p.Ser663Tyr | missense variant | - | chrX:g.70606966G>T | NCI-TCGA |
COSM1124513 | p.Tyr664Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70606963T>C | NCI-TCGA Cosmic |
rs1484944012 | p.Met666Val | missense variant | - | NC_000023.11:g.70605517T>C | TOPMed |
rs769530525 | p.Met666Ile | missense variant | - | NC_000023.11:g.70605515C>T | ExAC,gnomAD |
rs1210879579 | p.Ser672Ala | missense variant | - | NC_000023.11:g.70605499A>C | TOPMed |
rs756919847 | p.Leu677Pro | missense variant | - | NC_000023.11:g.70605483A>G | ExAC,gnomAD |
rs756919847 | p.Leu677Arg | missense variant | - | NC_000023.11:g.70605483A>C | ExAC,gnomAD |
rs1473803724 | p.Ile678Thr | missense variant | - | NC_000023.11:g.70605480A>G | TOPMed |
rs202064716 | p.Arg680Gln | missense variant | - | NC_000023.11:g.70605474C>T | ESP,ExAC,TOPMed,gnomAD |
rs1406736013 | p.Lys681Glu | missense variant | - | NC_000023.11:g.70605472T>C | TOPMed |
NCI-TCGA novel | p.Thr682Ala | missense variant | - | chrX:g.70605469T>C | NCI-TCGA |
rs777298782 | p.Leu685Phe | missense variant | - | NC_000023.11:g.70605460G>A | ExAC,gnomAD |
rs755448482 | p.Val688Gly | missense variant | - | NC_000023.11:g.70605450A>C | ExAC,gnomAD |
rs1421446151 | p.Ala689Thr | missense variant | - | NC_000023.11:g.70605448C>T | gnomAD |
NCI-TCGA novel | p.Glu693Gln | missense variant | - | chrX:g.70605436C>G | NCI-TCGA |
NCI-TCGA novel | p.Gly695Glu | missense variant | - | chrX:g.70605429C>T | NCI-TCGA |
COSM1686327 | p.Arg696Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70605426C>T | NCI-TCGA Cosmic |
RCV000173009 | p.Ala698Thr | missense variant | Spermatogenic failure, X-linked, 2 (SPGFX2) | NC_000023.11:g.70605421C>T | ClinVar |
rs140984555 | p.Ala698Thr | missense variant | - | NC_000023.11:g.70605421C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM3406549 | p.Ser699Ter | stop gained | Variant assessed as Somatic; HIGH impact. | chrX:g.70605417G>T | NCI-TCGA Cosmic |
rs750813136 | p.Glu703Val | missense variant | - | NC_000023.11:g.70605405T>A | ExAC,TOPMed,gnomAD |
rs757962095 | p.Arg710Cys | missense variant | - | NC_000023.11:g.70591808G>A | ExAC,gnomAD |
COSM1469090 | p.Glu713Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70591798T>G | NCI-TCGA Cosmic |
rs1412151866 | p.Ile715Thr | missense variant | - | NC_000023.11:g.70591792A>G | gnomAD |
rs1336871415 | p.Thr717Ala | missense variant | - | NC_000023.11:g.70591787T>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Cys718Phe | missense variant | - | chrX:g.70591783C>A | NCI-TCGA |
COSM6187505 | p.Cys718Ter | stop gained | Variant assessed as Somatic; HIGH impact. | chrX:g.70591782G>T | NCI-TCGA Cosmic |
rs1408551678 | p.Asn719Ser | missense variant | - | NC_000023.11:g.70591780T>C | gnomAD |
rs1404671794 | p.Asp720Val | missense variant | - | NC_000023.11:g.70591777T>A | TOPMed,gnomAD |
rs756666108 | p.His722Arg | missense variant | - | NC_000023.11:g.70591771T>C | ExAC,gnomAD |
rs373821400 | p.Gln727His | missense variant | - | NC_000023.11:g.70591755T>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Phe731Leu | missense variant | - | chrX:g.70554793G>T | NCI-TCGA |
rs376047420 | p.Ser732Leu | missense variant | - | NC_000023.11:g.70554791G>A | ESP,ExAC,TOPMed,gnomAD |
rs1337652466 | p.Asp734Tyr | missense variant | - | NC_000023.11:g.70554786C>A | gnomAD |
rs1160423060 | p.Cys736Arg | missense variant | - | NC_000023.11:g.70554780A>G | gnomAD |
rs771769122 | p.Leu740Phe | missense variant | - | NC_000023.11:g.70554768G>A | ExAC,gnomAD |
rs151048734 | p.Val747Ile | missense variant | - | NC_000023.11:g.70554747C>T | ESP,ExAC,TOPMed,gnomAD |
COSM6187507 | p.Asp753Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70554729C>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Leu756Val | missense variant | - | chrX:g.70554720G>C | NCI-TCGA |
COSM4848367 | p.Glu761Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70554705C>T | NCI-TCGA Cosmic |
rs143644139 | p.Val763Leu | missense variant | - | NC_000023.11:g.70554699C>A | ESP,ExAC,TOPMed,gnomAD |
rs200139216 | p.Val763Ala | missense variant | - | NC_000023.11:g.70554698A>G | ExAC,TOPMed,gnomAD |
rs1249479557 | p.Glu765Gly | missense variant | - | NC_000023.11:g.70554692T>C | gnomAD |
COSM1497345 | p.His768Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70554683T>G | NCI-TCGA Cosmic |
rs757760270 | p.Thr771Ala | missense variant | - | NC_000023.11:g.70554675T>C | ExAC,gnomAD |
COSM3563024 | p.Lys772Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70554672T>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Thr776Ala | missense variant | - | chrX:g.70554660T>C | NCI-TCGA |
rs1433357782 | p.Ile779Val | missense variant | - | NC_000023.11:g.70554651T>C | TOPMed |
rs1282035365 | p.Ile779Thr | missense variant | - | NC_000023.11:g.70553414A>G | TOPMed |
rs1485266259 | p.Met782Thr | missense variant | - | NC_000023.11:g.70553405A>G | gnomAD |
rs1239794640 | p.Glu783Asp | missense variant | - | NC_000023.11:g.70553401T>G | gnomAD |
rs1205572216 | p.Ala786Val | missense variant | - | NC_000023.11:g.70553393G>A | gnomAD |
COSM1124512 | p.His787Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70553389G>C | NCI-TCGA Cosmic |
rs760404246 | p.Tyr788Cys | missense variant | - | NC_000023.11:g.70553387T>C | ExAC,gnomAD |
rs771582546 | p.Pro789Thr | missense variant | - | NC_000023.11:g.70553385G>T | ExAC,gnomAD |
NCI-TCGA novel | p.Pro789His | missense variant | - | chrX:g.70553384G>T | NCI-TCGA |
rs1298024192 | p.Ala792Val | missense variant | - | NC_000023.11:g.70553375G>A | gnomAD |
NCI-TCGA novel | p.Ala792Val | missense variant | - | chrX:g.70553375G>A | NCI-TCGA |
rs747873016 | p.Leu793Phe | missense variant | - | NC_000023.11:g.70553373G>A | ExAC,gnomAD |
COSM1124511 | p.Lys798Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70553356C>A | NCI-TCGA Cosmic |
rs768268510 | p.Leu802Phe | missense variant | - | NC_000023.11:g.70553346G>A | ExAC,TOPMed,gnomAD |
rs1302431284 | p.Lys804Arg | missense variant | - | NC_000023.11:g.70553339T>C | gnomAD |
rs1338579232 | p.Lys805Met | missense variant | - | NC_000023.11:g.70553336T>A | TOPMed |
NCI-TCGA novel | p.Glu806Gly | missense variant | - | chrX:g.70553333T>C | NCI-TCGA |
NCI-TCGA novel | p.Glu806Gln | missense variant | - | chrX:g.70553334C>G | NCI-TCGA |
rs1210179902 | p.Glu807Asp | missense variant | - | NC_000023.11:g.70553329T>A | TOPMed |
rs1422541197 | p.Pro808Gln | missense variant | - | NC_000023.11:g.70553327G>T | gnomAD |
rs781735348 | p.Ile811Val | missense variant | - | NC_000023.11:g.70553319T>C | ExAC,gnomAD |
rs781735348 | p.Ile811Leu | missense variant | - | NC_000023.11:g.70553319T>G | ExAC,gnomAD |
rs781735348 | p.Ile811Leu | missense variant | - | NC_000023.11:g.70553319T>A | ExAC,gnomAD |
rs1290920334 | p.Ile811Thr | missense variant | - | NC_000023.11:g.70553318A>G | TOPMed |
rs202136447 | p.Gln813Arg | missense variant | - | NC_000023.11:g.70553312T>C | ExAC,TOPMed,gnomAD |
rs143397565 | p.Gln813Lys | missense variant | - | NC_000023.11:g.70553313G>T | ESP,ExAC,TOPMed |
rs201040035 | p.Ser815Arg | missense variant | - | NC_000023.11:g.70553307T>G | 1000Genomes,ExAC |
rs140957385 | p.Asn820Asp | missense variant | - | NC_000023.11:g.70552233T>C | ESP,TOPMed,gnomAD |
rs761355754 | p.Val822Ile | missense variant | - | NC_000023.11:g.70552227C>T | ExAC,gnomAD |
rs761355754 | p.Val822Leu | missense variant | - | NC_000023.11:g.70552227C>G | ExAC,gnomAD |
rs1469887273 | p.Asn823His | missense variant | - | NC_000023.11:g.70552224T>G | gnomAD |
rs1427917315 | p.Leu824Phe | missense variant | - | NC_000023.11:g.70552221G>A | gnomAD |
COSM4110775 | p.Pro827Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70552212G>A | NCI-TCGA Cosmic |
rs774117470 | p.Ala830Val | missense variant | - | NC_000023.11:g.70552202G>A | ExAC,TOPMed,gnomAD |
rs1253261339 | p.Ala830Thr | missense variant | - | NC_000023.11:g.70552203C>T | TOPMed,gnomAD |
rs774117470 | p.Ala830Val | missense variant | - | chrX:g.70552202G>A | NCI-TCGA |
rs1253261339 | p.Ala830Ser | missense variant | - | NC_000023.11:g.70552203C>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser831Pro | missense variant | - | chrX:g.70552200A>G | NCI-TCGA |
rs762490798 | p.Ser831Leu | missense variant | - | chrX:g.70552199G>A | NCI-TCGA |
rs762490798 | p.Ser831Leu | missense variant | - | NC_000023.11:g.70552199G>A | ExAC,gnomAD |
rs1324379138 | p.Asn832Ser | missense variant | - | NC_000023.11:g.70552196T>C | gnomAD |
rs747562165 | p.Val833Ile | missense variant | - | NC_000023.11:g.70552194C>T | ExAC,TOPMed,gnomAD |
rs371524119 | p.Glu834Gln | missense variant | - | NC_000023.11:g.70552191C>G | ESP,ExAC,gnomAD |
rs1390635635 | p.Leu835Pro | missense variant | - | NC_000023.11:g.70552187A>G | gnomAD |
COSM4923390 | p.Leu838Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70552178A>T | NCI-TCGA Cosmic |
COSM1491202 | p.Glu840Ter | stop gained | Variant assessed as Somatic; HIGH impact. | chrX:g.70552173C>A | NCI-TCGA Cosmic |
rs772547120 | p.Tyr844Cys | missense variant | - | NC_000023.11:g.70552160T>C | ExAC,gnomAD |
rs16991177 | p.Asp847Glu | missense variant | - | NC_000023.11:g.70552150A>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1452825580 | p.Ala848Gly | missense variant | - | NC_000023.11:g.70552148G>C | gnomAD |
rs780146584 | p.Arg854Leu | missense variant | - | NC_000023.11:g.70552130C>A | ExAC,TOPMed,gnomAD |
rs780146584 | p.Arg854His | missense variant | - | NC_000023.11:g.70552130C>T | ExAC,TOPMed,gnomAD |
rs753874381 | p.Arg854Cys | missense variant | - | NC_000023.11:g.70552131G>A | ExAC,gnomAD |
rs1289976436 | p.Asp857Gly | missense variant | - | NC_000023.11:g.70529995T>C | gnomAD |
NCI-TCGA novel | p.Asp857Tyr | missense variant | - | chrX:g.70529996C>A | NCI-TCGA |
rs772461116 | p.Pro859Ala | missense variant | - | NC_000023.11:g.70529990G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Ile863Thr | missense variant | - | chrX:g.70529977A>G | NCI-TCGA |
COSM172371 | p.Leu864Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70529975G>T | NCI-TCGA Cosmic |
rs1165914544 | p.Leu866Met | missense variant | - | NC_000023.11:g.70529969G>T | gnomAD |
rs768834428 | p.Thr873Ile | missense variant | - | NC_000023.11:g.70529947G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Val875Ile | missense variant | - | chrX:g.70529942C>T | NCI-TCGA |
rs1484882277 | p.Ser879Gly | missense variant | - | NC_000023.11:g.70529930T>C | gnomAD |
rs756250033 | p.Ser881Gly | missense variant | - | NC_000023.11:g.70529924T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Lys882Thr | missense variant | - | chrX:g.70529920T>G | NCI-TCGA |
NCI-TCGA novel | p.Ala884Val | missense variant | - | chrX:g.70529914G>A | NCI-TCGA |
rs1222993065 | p.Ser885Pro | missense variant | - | NC_000023.11:g.70529912A>G | gnomAD |
NCI-TCGA novel | p.Ala886Thr | missense variant | - | chrX:g.70529909C>T | NCI-TCGA |
rs374367768 | p.Glu887Lys | missense variant | - | NC_000023.11:g.70529906C>T | ESP,ExAC,TOPMed,gnomAD |
rs374367768 | p.Glu887Lys | missense variant | - | chrX:g.70529906C>T | NCI-TCGA |
rs781122355 | p.Gly891Ser | missense variant | - | NC_000023.11:g.70529894C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Leu892Arg | missense variant | - | chrX:g.70529890A>C | NCI-TCGA |
NCI-TCGA novel | p.Ala893Thr | missense variant | - | chrX:g.70529888C>T | NCI-TCGA |
rs764025236 | p.Leu894Phe | missense variant | - | NC_000023.11:g.70529883C>G | ExAC,gnomAD |
rs758103906 | p.Arg895His | missense variant | - | NC_000023.11:g.70529881C>T | ExAC,gnomAD |
rs1385053997 | p.Arg895Gly | missense variant | - | NC_000023.11:g.70529882G>C | TOPMed |
NCI-TCGA novel | p.Arg895Cys | missense variant | - | chrX:g.70529882G>A | NCI-TCGA |
rs764836814 | p.Asn898Lys | missense variant | - | NC_000023.11:g.70529871G>C | ExAC,gnomAD |
rs1259438531 | p.His899Tyr | missense variant | - | NC_000023.11:g.70529870G>A | TOPMed,gnomAD |
rs139092522 | p.Thr901Asn | missense variant | - | NC_000023.11:g.70529863G>T | ESP,ExAC,TOPMed,gnomAD |
rs768027475 | p.Ser906Ile | missense variant | - | NC_000023.11:g.70529848C>A | ExAC,gnomAD |
COSM457931 | p.Ser906Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70529848C>T | NCI-TCGA Cosmic |
rs762267271 | p.Ser906Arg | missense variant | - | NC_000023.11:g.70529847G>C | ExAC,gnomAD |
rs1011465821 | p.Tyr915His | missense variant | - | NC_000023.11:g.70529175A>G | TOPMed |
rs1411971320 | p.Tyr915Cys | missense variant | - | NC_000023.11:g.70529174T>C | gnomAD |
rs150726887 | p.Ser916Gly | missense variant | - | NC_000023.11:g.70529172T>C | ESP,ExAC,TOPMed,gnomAD |
rs1382858891 | p.Leu918Phe | missense variant | - | NC_000023.11:g.70529166G>A | TOPMed |
COSM289181 | p.Leu918Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70529166G>T | NCI-TCGA Cosmic |
rs370371866 | p.Val919Met | missense variant | - | NC_000023.11:g.70529163C>T | ESP,ExAC,gnomAD |
COSM5431431 | p.Val919Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70529163C>A | NCI-TCGA Cosmic |
rs377040267 | p.Ala921Glu | missense variant | - | NC_000023.11:g.70529156G>T | ESP,ExAC,gnomAD |
rs1480104374 | p.Ser923Asn | missense variant | - | NC_000023.11:g.70529150C>T | TOPMed,gnomAD |
rs1310485179 | p.Asn925Lys | missense variant | - | NC_000023.11:g.70529143G>C | TOPMed |
rs200029838 | p.Gly927Arg | missense variant | - | NC_000023.11:g.70529139C>G | ExAC,TOPMed,gnomAD |
COSM1124510 | p.Pro928Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | chrX:g.70529136G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Val929Gly | missense variant | - | chrX:g.70529132A>C | NCI-TCGA |
NCI-TCGA novel | p.Val929Phe | missense variant | - | chrX:g.70529133C>A | NCI-TCGA |
rs1183769925 | p.His931Gln | missense variant | - | NC_000023.11:g.70529125A>T | gnomAD |
rs374729936 | p.His933Arg | missense variant | - | NC_000023.11:g.70529120T>C | ESP,ExAC,TOPMed,gnomAD |
rs374729936 | p.His933Leu | missense variant | - | NC_000023.11:g.70529120T>A | ESP,ExAC,TOPMed,gnomAD |
rs1324267120 | p.Gly934Ser | missense variant | - | NC_000023.11:g.70529118C>T | gnomAD |
rs763243018 | p.Tyr935Ter | stop gained | - | NC_000023.11:g.70529113G>T | ExAC |
rs144188602 | p.Ser937Asn | missense variant | - | NC_000023.11:g.70529108C>T | ESP,ExAC,gnomAD |