rs1482222602 | p.Glu2Asp | missense variant | - | NC_000010.11:g.33334377C>A | gnomAD |
rs866275912 | p.Arg3Thr | missense variant | - | NC_000010.11:g.33334375C>G | TOPMed |
rs866275912 | p.Arg3Lys | missense variant | - | NC_000010.11:g.33334375C>T | TOPMed |
rs953208828 | p.Arg3Ser | missense variant | - | NC_000010.11:g.33334374C>G | TOPMed,gnomAD |
rs757732321 | p.Arg3Gly | missense variant | - | NC_000010.11:g.33334376T>C | ExAC,gnomAD |
rs1282658453 | p.Leu7Phe | missense variant | - | NC_000010.11:g.33334364G>A | gnomAD |
rs764282718 | p.Leu7Pro | missense variant | - | NC_000010.11:g.33334363A>G | ExAC,TOPMed,gnomAD |
rs760822303 | p.Leu8Ile | missense variant | - | NC_000010.11:g.33334361G>T | ExAC,TOPMed,gnomAD |
rs760822303 | p.Leu8Phe | missense variant | - | NC_000010.11:g.33334361G>A | ExAC,TOPMed,gnomAD |
rs1341197483 | p.Cys9Gly | missense variant | - | NC_000010.11:g.33334358A>C | TOPMed |
rs1377623827 | p.Leu14Phe | missense variant | - | NC_000010.11:g.33334343G>A | TOPMed,gnomAD |
rs1377623827 | p.Leu14Val | missense variant | - | NC_000010.11:g.33334343G>C | TOPMed,gnomAD |
rs1311811089 | p.Leu14Arg | missense variant | - | NC_000010.11:g.33334342A>C | gnomAD |
rs374322029 | p.Val15Ala | missense variant | - | NC_000010.11:g.33334339A>G | ESP,ExAC,TOPMed,gnomAD |
rs1166283194 | p.Leu16Ile | missense variant | - | NC_000010.11:g.33334337G>T | gnomAD |
rs1373477482 | p.Pro18Thr | missense variant | - | NC_000010.11:g.33334331G>T | gnomAD |
rs1422054694 | p.Ala19Thr | missense variant | - | NC_000010.11:g.33334328C>T | TOPMed,gnomAD |
rs1255367960 | p.Gly20Ser | missense variant | - | NC_000010.11:g.33334325C>T | TOPMed,gnomAD |
rs1255367960 | p.Gly20Cys | missense variant | - | NC_000010.11:g.33334325C>A | TOPMed,gnomAD |
rs1486018391 | p.Ala21Asp | missense variant | - | NC_000010.11:g.33334321G>T | gnomAD |
rs894220185 | p.Ala21Thr | missense variant | - | NC_000010.11:g.33334322C>T | gnomAD |
rs770720421 | p.Arg23Cys | missense variant | - | NC_000010.11:g.33334316G>A | ExAC |
rs1259904998 | p.Asn24Ser | missense variant | - | NC_000010.11:g.33334312T>C | gnomAD |
rs1174726719 | p.Asn24Asp | missense variant | - | NC_000010.11:g.33334313T>C | TOPMed |
rs1338952516 | p.Asp25His | missense variant | - | NC_000010.11:g.33334310C>G | gnomAD |
rs374276976 | p.Asp29Asn | missense variant | - | NC_000010.11:g.33330871C>T | ESP,ExAC,TOPMed,gnomAD |
rs1386346760 | p.Asp29Val | missense variant | - | NC_000010.11:g.33330870T>A | gnomAD |
rs867341914 | p.Ile31Thr | missense variant | - | NC_000010.11:g.33330864A>G | TOPMed,gnomAD |
rs1258659568 | p.Lys32Arg | missense variant | - | NC_000010.11:g.33330861T>C | TOPMed |
rs759708920 | p.Ile33Met | missense variant | - | NC_000010.11:g.33330857A>C | ExAC,gnomAD |
rs1184185740 | p.Ser35Asn | missense variant | - | NC_000010.11:g.33330852C>T | gnomAD |
rs751738413 | p.Pro36Leu | missense variant | - | NC_000010.11:g.33330849G>A | ExAC |
NCI-TCGA novel | p.Ser41Pro | missense variant | - | NC_000010.11:g.33330835A>G | NCI-TCGA |
NCI-TCGA novel | p.Gly43Asp | missense variant | - | NC_000010.11:g.33330828C>T | NCI-TCGA |
rs1270349204 | p.Tyr44Phe | missense variant | - | NC_000010.11:g.33330825T>A | TOPMed |
rs1479432602 | p.Pro45Ser | missense variant | - | NC_000010.11:g.33330823G>A | TOPMed |
NCI-TCGA novel | p.His46Tyr | missense variant | - | NC_000010.11:g.33330820G>A | NCI-TCGA |
COSM4013926 | p.Ser47Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33330817A>T | NCI-TCGA Cosmic |
rs964215241 | p.His49Gln | missense variant | - | NC_000010.11:g.33330809G>C | TOPMed |
rs761687731 | p.His49Tyr | missense variant | - | NC_000010.11:g.33330811G>A | ExAC,TOPMed,gnomAD |
rs1402299798 | p.Pro50Ser | missense variant | - | NC_000010.11:g.33330808G>A | TOPMed |
rs1156630275 | p.Ser51Asn | missense variant | - | NC_000010.11:g.33330804C>T | TOPMed |
rs776148094 | p.Lys53Glu | missense variant | - | NC_000010.11:g.33330799T>C | ExAC,gnomAD |
rs768142109 | p.Cys54Arg | missense variant | - | NC_000010.11:g.33330796A>G | ExAC,gnomAD |
rs1230660558 | p.Glu55Lys | missense variant | - | NC_000010.11:g.33330793C>T | gnomAD |
rs779741661 | p.Gln59Glu | missense variant | - | NC_000010.11:g.33330781G>C | ExAC,gnomAD |
rs1303960267 | p.Gln59Arg | missense variant | - | NC_000010.11:g.33330780T>C | gnomAD |
rs771267477 | p.Pro61Leu | missense variant | - | NC_000010.11:g.33330774G>A | ExAC,gnomAD |
rs1358919959 | p.Asp62Glu | missense variant | - | NC_000010.11:g.33330770G>T | TOPMed |
rs1419281327 | p.Pro63Ser | missense variant | - | NC_000010.11:g.33330769G>A | TOPMed |
rs371886197 | p.Gln65Arg | missense variant | - | NC_000010.11:g.33330762T>C | ExAC,TOPMed,gnomAD |
rs1385818807 | p.Arg66Thr | missense variant | - | NC_000010.11:g.33330759C>G | gnomAD |
NCI-TCGA novel | p.Ile67Met | missense variant | - | NC_000010.11:g.33330755A>C | NCI-TCGA |
NCI-TCGA novel | p.Ile67Phe | missense variant | - | NC_000010.11:g.33330757T>A | NCI-TCGA |
rs781138129 | p.Met68Val | missense variant | - | NC_000010.11:g.33330754T>C | ExAC,gnomAD |
rs751789763 | p.Met68Ile | missense variant | - | NC_000010.11:g.33330752C>A | ExAC,gnomAD |
rs755031065 | p.Met68Thr | missense variant | - | NC_000010.11:g.33330753A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ile69Met | missense variant | - | NC_000010.11:g.33330749G>C | NCI-TCGA |
COSM1297222 | p.Phe71Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33330743G>C | NCI-TCGA Cosmic |
rs762780832 | p.Pro73Leu | missense variant | - | NC_000010.11:g.33330738G>A | ExAC,gnomAD |
rs750237365 | p.His74Leu | missense variant | - | NC_000010.11:g.33330735T>A | ExAC,TOPMed,gnomAD |
rs1448051089 | p.Asp76Asn | missense variant | - | NC_000010.11:g.33330730C>T | gnomAD |
rs1285825996 | p.Asp76Gly | missense variant | - | NC_000010.11:g.33330729T>C | TOPMed,gnomAD |
rs1346722965 | p.Leu77Phe | missense variant | - | NC_000010.11:g.33330725C>G | gnomAD |
rs1305279518 | p.Arg80Ter | stop gained | - | NC_000010.11:g.33330718T>A | TOPMed |
COSM1645679 | p.Asp81Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33330715C>A | NCI-TCGA Cosmic |
rs775797226 | p.Lys83Glu | missense variant | - | NC_000010.11:g.33330709T>C | gnomAD |
rs753783818 | p.Val87Met | missense variant | - | NC_000010.11:g.33270846C>T | ExAC,TOPMed,gnomAD |
rs533652148 | p.Asp91Asn | missense variant | - | NC_000010.11:g.33270834C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1401090199 | p.Glu95Lys | missense variant | - | NC_000010.11:g.33270822C>T | gnomAD |
rs767096379 | p.Asn96Ser | missense variant | - | NC_000010.11:g.33270818T>C | ExAC |
rs775089363 | p.Asn96Tyr | missense variant | - | NC_000010.11:g.33270819T>A | ExAC,gnomAD |
rs759268484 | p.Gly97Val | missense variant | - | NC_000010.11:g.33270815C>A | ExAC,gnomAD |
rs1016982339 | p.His98Pro | missense variant | - | NC_000010.11:g.33270812T>G | TOPMed |
NCI-TCGA novel | p.Phe99LeuPheSerTerUnk | frameshift | - | NC_000010.11:g.33270808A>- | NCI-TCGA |
rs1163348245 | p.Arg100Met | missense variant | - | NC_000010.11:g.33270806C>A | gnomAD |
COSM3437425 | p.Arg100Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33270806C>T | NCI-TCGA Cosmic |
rs200028992 | p.Gly101Glu | missense variant | - | NC_000010.11:g.33270803C>T | ExAC,gnomAD |
rs770342995 | p.Lys102Asn | missense variant | - | NC_000010.11:g.33270799C>A | ExAC,TOPMed,gnomAD |
rs1338361507 | p.Lys106Glu | missense variant | - | NC_000010.11:g.33270789T>C | TOPMed |
rs748521141 | p.Ile107Val | missense variant | - | NC_000010.11:g.33270786T>C | ExAC,gnomAD |
rs748521141 | p.Ile107Leu | missense variant | - | NC_000010.11:g.33270786T>A | ExAC,gnomAD |
COSM1645681 | p.Ile107Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33270785A>T | NCI-TCGA Cosmic |
rs777048356 | p.Ala108Thr | missense variant | - | NC_000010.11:g.33270783C>T | ExAC,gnomAD |
rs766086952 | p.Pro110Ser | missense variant | - | NC_000010.11:g.33270777G>A | ExAC,TOPMed |
rs377601784 | p.Pro111Leu | missense variant | - | NC_000010.11:g.33270773G>A | ESP,TOPMed |
NCI-TCGA novel | p.Pro111His | missense variant | - | NC_000010.11:g.33270773G>T | NCI-TCGA |
rs1439297364 | p.Val113Leu | missense variant | - | NC_000010.11:g.33270768C>G | gnomAD |
COSM3867150 | p.Ser115Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33270761G>A | NCI-TCGA Cosmic |
rs780182320 | p.Pro117Leu | missense variant | - | NC_000010.11:g.33270755G>A | ExAC,TOPMed,gnomAD |
COSM249102 | p.Pro117Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33270756G>A | NCI-TCGA Cosmic |
rs1343522633 | p.Leu119Pro | missense variant | - | NC_000010.11:g.33270749A>G | TOPMed |
rs746144639 | p.Leu119Val | missense variant | - | NC_000010.11:g.33270750G>C | ExAC,gnomAD |
rs746144639 | p.Leu119Ile | missense variant | - | NC_000010.11:g.33270750G>T | ExAC,gnomAD |
rs753645404 | p.Lys122Thr | missense variant | - | NC_000010.11:g.33270740T>G | ExAC,TOPMed,gnomAD |
rs763747196 | p.Val124Asp | missense variant | - | NC_000010.11:g.33270734A>T | ExAC,gnomAD |
rs142912222 | p.Tyr127Ter | stop gained | - | NC_000010.11:g.33270724G>C | ESP,ExAC,TOPMed,gnomAD |
COSM1646292 | p.Glu128Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33270723C>T | NCI-TCGA Cosmic |
rs1461436045 | p.Ala132Glu | missense variant | - | NC_000010.11:g.33270710G>T | gnomAD |
rs759105775 | p.Phe134Leu | missense variant | - | NC_000010.11:g.33270705A>G | ExAC,TOPMed,gnomAD |
COSM3437422 | p.Ser135Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33270701G>A | NCI-TCGA Cosmic |
rs1416723101 | p.Ile136Met | missense variant | - | NC_000010.11:g.33270697T>C | gnomAD |
rs150347665 | p.Arg137His | missense variant | - | NC_000010.11:g.33270695C>T | 1000Genomes,ExAC,gnomAD |
rs766101815 | p.Arg137Cys | missense variant | - | NC_000010.11:g.33270696G>A | ExAC,gnomAD |
rs766101815 | p.Arg137Ser | missense variant | - | NC_000010.11:g.33270696G>T | ExAC,gnomAD |
COSM3437419 | p.Glu139Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33270690C>T | NCI-TCGA Cosmic |
rs180868035 | p.Ile140Leu | missense variant | - | NC_000010.11:g.33270687T>G | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Phe141Ser | missense variant | - | NC_000010.11:g.33270683A>G | NCI-TCGA |
rs1459792917 | p.Lys142Arg | missense variant | - | NC_000010.11:g.33270680T>C | TOPMed |
rs1250979931 | p.Arg143Gly | missense variant | - | NC_000010.11:g.33270678T>C | gnomAD |
rs1212825426 | p.Arg143Ser | missense variant | - | NC_000010.11:g.33270676T>A | gnomAD |
COSM1321376 | p.Arg143Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33270677C>A | NCI-TCGA Cosmic |
rs1230188430 | p.Gly144Asp | missense variant | - | NC_000010.11:g.33263873C>T | TOPMed |
rs1337857872 | p.Glu146Ala | missense variant | - | NC_000010.11:g.33263867T>G | TOPMed |
rs764575518 | p.Cys147Arg | missense variant | - | NC_000010.11:g.33263865A>G | ExAC,gnomAD |
rs1401227091 | p.Tyr151His | missense variant | - | NC_000010.11:g.33263853A>G | TOPMed,gnomAD |
rs527361837 | p.Pro154Arg | missense variant | - | NC_000010.11:g.33263843G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs527361837 | p.Pro154Leu | missense variant | - | NC_000010.11:g.33263843G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs776015472 | p.Pro154Ser | missense variant | - | NC_000010.11:g.33263844G>A | ExAC,TOPMed,gnomAD |
rs774445478 | p.Ser155Asn | missense variant | - | NC_000010.11:g.33263840C>T | ExAC,gnomAD |
rs774445478 | p.Ser155Thr | missense variant | - | NC_000010.11:g.33263840C>G | ExAC,gnomAD |
rs559961807 | p.Ser155Arg | missense variant | - | NC_000010.11:g.33263839A>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs559961807 | p.Ser155Arg | missense variant | - | NC_000010.11:g.33263839A>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1450276055 | p.Val157Ala | missense variant | - | NC_000010.11:g.33263834A>G | TOPMed |
rs749539019 | p.Val157Met | missense variant | - | NC_000010.11:g.33263835C>T | ExAC,gnomAD |
rs1190789897 | p.Ile158Thr | missense variant | - | NC_000010.11:g.33263831A>G | TOPMed |
rs777846803 | p.Lys159Gln | missense variant | - | NC_000010.11:g.33263829T>G | ExAC,TOPMed,gnomAD |
rs138480424 | p.Lys159Arg | missense variant | - | NC_000010.11:g.33263828T>C | ESP,ExAC |
rs777846803 | p.Lys159Glu | missense variant | - | NC_000010.11:g.33263829T>C | ExAC,TOPMed,gnomAD |
rs912015040 | p.Pro161Ser | missense variant | - | NC_000010.11:g.33263823G>A | TOPMed |
rs1210497251 | p.Gly162Glu | missense variant | - | NC_000010.11:g.33263819C>T | gnomAD |
rs760204296 | p.Gly162Arg | missense variant | - | NC_000010.11:g.33263820C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Pro168Ser | missense variant | - | NC_000010.11:g.33263802G>A | NCI-TCGA |
COSM4013923 | p.Asn169Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33263798T>C | NCI-TCGA Cosmic |
rs199984109 | p.Leu171Phe | missense variant | - | NC_000010.11:g.33263793G>A | TOPMed,gnomAD |
rs754991998 | p.Glu172Gln | missense variant | - | NC_000010.11:g.33263790C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Glu172Gly | missense variant | - | NC_000010.11:g.33263789T>C | NCI-TCGA |
rs779720457 | p.Ile176Val | missense variant | - | NC_000010.11:g.33263778T>C | ExAC,TOPMed,gnomAD |
rs7079053 | p.Val179Glu | missense variant | - | NC_000010.11:g.33263768A>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs7079053 | p.Val179Ala | missense variant | - | NC_000010.11:g.33263768A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs201526603 | p.Pro180Leu | missense variant | - | NC_000010.11:g.33263765G>A | 1000Genomes,TOPMed |
rs761148975 | p.Pro180Ser | missense variant | - | NC_000010.11:g.33263766G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Lys181Asn | missense variant | - | NC_000010.11:g.33263761C>A | NCI-TCGA |
NCI-TCGA novel | p.Lys181Thr | missense variant | - | NC_000010.11:g.33263762T>G | NCI-TCGA |
rs753081430 | p.Lys181Glu | missense variant | - | NC_000010.11:g.33263763T>C | ExAC,TOPMed |
rs767829083 | p.Lys181Asn | missense variant | - | NC_000010.11:g.33263761C>G | ExAC,gnomAD |
rs760040713 | p.Met182Thr | missense variant | - | NC_000010.11:g.33263759A>G | ExAC,gnomAD |
rs1347724696 | p.Glu184Asp | missense variant | - | NC_000010.11:g.33263752C>A | TOPMed |
rs774782566 | p.Ile186Phe | missense variant | - | NC_000010.11:g.33263748T>A | ExAC,gnomAD |
rs766540692 | p.Ile186Asn | missense variant | - | NC_000010.11:g.33263747A>T | ExAC,gnomAD |
rs1173936257 | p.Glu188Gln | missense variant | - | NC_000010.11:g.33263742C>G | gnomAD |
rs1415820731 | p.Asp193Glu | missense variant | - | NC_000010.11:g.33263725G>T | TOPMed,gnomAD |
rs762939897 | p.Pro196Ala | missense variant | - | NC_000010.11:g.33263718G>C | ExAC,TOPMed,gnomAD |
COSM1646294 | p.Ser198Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.33263711G>C | NCI-TCGA Cosmic |
rs1486129684 | p.Asn199Thr | missense variant | - | NC_000010.11:g.33263708T>G | gnomAD |
rs1258450460 | p.Pro200Thr | missense variant | - | NC_000010.11:g.33263706G>T | gnomAD |
rs200265591 | p.Pro201Leu | missense variant | - | NC_000010.11:g.33263702G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs941004239 | p.Gly202Val | missense variant | - | NC_000010.11:g.33263699C>A | TOPMed,gnomAD |
rs941004239 | p.Gly202Ala | missense variant | - | NC_000010.11:g.33263699C>G | TOPMed,gnomAD |
rs1480484289 | p.Gly202Arg | missense variant | - | NC_000010.11:g.33263700C>G | gnomAD |
rs769888879 | p.Gly203Ala | missense variant | - | NC_000010.11:g.33263696C>G | ExAC,TOPMed,gnomAD |
rs909532212 | p.Gly203Arg | missense variant | - | NC_000010.11:g.33263697C>T | TOPMed,gnomAD |
rs1456188657 | p.Met204Ile | missense variant | - | NC_000010.11:g.33263692C>T | gnomAD |
rs148308681 | p.Arg207His | missense variant | - | NC_000010.11:g.33263684C>T | ESP,ExAC,TOPMed,gnomAD |
rs746998077 | p.Tyr208His | missense variant | - | NC_000010.11:g.33263682A>G | ExAC,gnomAD |
rs757963789 | p.Arg210Leu | missense variant | - | NC_000010.11:g.33263675C>A | ExAC,TOPMed,gnomAD |
rs757963789 | p.Arg210Gln | missense variant | - | NC_000010.11:g.33263675C>T | ExAC,TOPMed,gnomAD |
rs779848424 | p.Arg210Trp | missense variant | - | NC_000010.11:g.33263676G>A | ExAC,TOPMed,gnomAD |
rs757963789 | p.Arg210Pro | missense variant | - | NC_000010.11:g.33263675C>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu211Val | missense variant | - | NC_000010.11:g.33263673G>C | NCI-TCGA |
COSM4865790 | p.Glu212Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33263668T>G | NCI-TCGA Cosmic |
rs1459872074 | p.Asp215Asn | missense variant | - | NC_000010.11:g.33263661C>T | gnomAD |
rs1393567589 | p.Phe217Leu | missense variant | - | NC_000010.11:g.33263653G>T | gnomAD |
COSM3437412 | p.Pro218Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33263651G>C | NCI-TCGA Cosmic |
rs1164308760 | p.Asp219His | missense variant | - | NC_000010.11:g.33263649C>G | gnomAD |
NCI-TCGA novel | p.Val220Ile | missense variant | - | NC_000010.11:g.33263646C>T | NCI-TCGA |
rs778291277 | p.Val220Ala | missense variant | - | NC_000010.11:g.33256471A>G | ExAC,gnomAD |
rs143227333 | p.Pro222Thr | missense variant | - | NC_000010.11:g.33256466G>T | ESP,ExAC,TOPMed,gnomAD |
rs143227333 | p.Pro222Ser | missense variant | - | NC_000010.11:g.33256466G>A | ESP,ExAC,TOPMed,gnomAD |
rs777399733 | p.Ile224Val | missense variant | - | NC_000010.11:g.33256460T>C | ExAC,gnomAD |
rs752844799 | p.Ile224Met | missense variant | - | NC_000010.11:g.33256458A>C | ExAC,TOPMed,gnomAD |
rs755377330 | p.Ile224Thr | missense variant | - | NC_000010.11:g.33256459A>G | ExAC,gnomAD |
rs201034499 | p.Arg226His | missense variant | - | NC_000010.11:g.33256453C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs750880625 | p.Arg226Cys | missense variant | - | NC_000010.11:g.33256454G>A | ExAC,gnomAD |
rs754150577 | p.Gln230Pro | missense variant | - | NC_000010.11:g.33256441T>G | ExAC,gnomAD |
rs764387080 | p.Lys231Glu | missense variant | - | NC_000010.11:g.33256439T>C | ExAC,gnomAD |
rs1173524331 | p.Thr232Ser | missense variant | - | NC_000010.11:g.33256436T>A | gnomAD |
rs1032055908 | p.Gly234Asp | missense variant | - | NC_000010.11:g.33256429C>T | TOPMed |
rs1371787655 | p.Arg235Gly | missense variant | - | NC_000010.11:g.33256427G>C | gnomAD |
COSM1217849 | p.Arg235Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.33256427G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Arg237Ter | stop gained | - | NC_000010.11:g.33256421G>A | NCI-TCGA |
rs866118992 | p.Arg237Gln | missense variant | - | NC_000010.11:g.33256420C>T | TOPMed,gnomAD |
rs775178016 | p.Ser240Leu | missense variant | - | NC_000010.11:g.33256411G>A | ExAC,TOPMed,gnomAD |
rs775178016 | p.Ser240Leu | missense variant | - | NC_000010.11:g.33256411G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs146442068 | p.Ile242Ser | missense variant | - | NC_000010.11:g.33256405A>C | 1000Genomes,ExAC,gnomAD |
rs375021532 | p.Met245Val | missense variant | - | NC_000010.11:g.33256397T>C | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Tyr248ThrPheSerTerUnk | frameshift | - | NC_000010.11:g.33256388A>- | NCI-TCGA |
rs1434061744 | p.Tyr248His | missense variant | - | NC_000010.11:g.33256388A>G | gnomAD |
rs748767291 | p.Thr249Ser | missense variant | - | NC_000010.11:g.33256384G>C | ExAC,gnomAD |
rs747799575 | p.Ser251Arg | missense variant | - | NC_000010.11:g.33256377G>T | ExAC,TOPMed,gnomAD |
rs1300083541 | p.Ala252Thr | missense variant | - | NC_000010.11:g.33256376C>T | TOPMed,gnomAD |
rs780290010 | p.Ala252Val | missense variant | - | NC_000010.11:g.33256375G>A | NCI-TCGA |
rs780290010 | p.Ala252Val | missense variant | - | NC_000010.11:g.33256375G>A | ExAC,TOPMed,gnomAD |
rs1335290470 | p.Ala254Thr | missense variant | - | NC_000010.11:g.33256370C>T | gnomAD |
COSM4835433 | p.Ser259Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33256354G>A | NCI-TCGA Cosmic |
rs1473029523 | p.Ala260Thr | missense variant | - | NC_000010.11:g.33256352C>T | TOPMed |
rs1478416024 | p.Ser263Gly | missense variant | - | NC_000010.11:g.33256343T>C | TOPMed,gnomAD |
rs1478416024 | p.Ser263Cys | missense variant | - | NC_000010.11:g.33256343T>A | TOPMed,gnomAD |
rs750955267 | p.Leu265Ser | missense variant | - | NC_000010.11:g.33256336A>G | ExAC,gnomAD |
rs779527944 | p.Gln266His | missense variant | - | NC_000010.11:g.33256332C>G | ExAC,gnomAD |
rs113722704 | p.Ser267Asn | missense variant | - | NC_000010.11:g.33256330C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1212018208 | p.Glu271Gly | missense variant | - | NC_000010.11:g.33256318T>C | gnomAD |
COSM427517 | p.Glu271Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.33256319C>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asp272His | missense variant | - | NC_000010.11:g.33256316C>G | NCI-TCGA |
rs1435819505 | p.Asp272Asn | missense variant | - | NC_000010.11:g.33256316C>T | gnomAD |
rs1019886408 | p.Met276Val | missense variant | - | NC_000010.11:g.33254183T>C | - |
rs1019886408 | p.Met276Val | missense variant | - | NC_000010.11:g.33254183T>C | NCI-TCGA |
rs1230311035 | p.Met281Val | missense variant | - | NC_000010.11:g.33254168T>C | gnomAD |
rs1371435295 | p.Met281Thr | missense variant | - | NC_000010.11:g.33254167A>G | gnomAD |
rs1309002041 | p.Glu282Asp | missense variant | - | NC_000010.11:g.33254163T>G | gnomAD |
NCI-TCGA novel | p.Glu285Ter | stop gained | - | NC_000010.11:g.33254156C>A | NCI-TCGA |
rs767749031 | p.Glu285Lys | missense variant | - | NC_000010.11:g.33254156C>T | ExAC,gnomAD |
rs577020617 | p.Ile286Ser | missense variant | - | NC_000010.11:g.33254152A>C | 1000Genomes,ExAC,gnomAD |
rs751394461 | p.His287Asn | missense variant | - | NC_000010.11:g.33254150G>T | ExAC,gnomAD |
rs1350006225 | p.His287Arg | missense variant | - | NC_000010.11:g.33254149T>C | gnomAD |
rs766125758 | p.Ser288Phe | missense variant | - | NC_000010.11:g.33254146G>A | ExAC,gnomAD |
rs773080378 | p.Asp289His | missense variant | - | NC_000010.11:g.33254144C>G | ExAC,TOPMed,gnomAD |
rs764772224 | p.Asp289Glu | missense variant | - | NC_000010.11:g.33254142G>T | ExAC,gnomAD |
rs773080378 | p.Asp289Asn | missense variant | - | NC_000010.11:g.33254144C>T | ExAC,TOPMed,gnomAD |
rs1243963204 | p.Gln290His | missense variant | - | NC_000010.11:g.33254139C>G | TOPMed |
rs761386013 | p.Ile291Phe | missense variant | - | NC_000010.11:g.33254138T>A | ExAC,gnomAD |
rs1250882679 | p.Thr292Ala | missense variant | - | NC_000010.11:g.33254135T>C | gnomAD |
rs1047454308 | p.Ala293Val | missense variant | - | NC_000010.11:g.33254131G>A | - |
rs1047454308 | p.Ala293Val | missense variant | - | NC_000010.11:g.33254131G>A | NCI-TCGA Cosmic |
rs776208797 | p.Ser295Cys | missense variant | - | NC_000010.11:g.33254125G>C | ExAC,gnomAD |
rs746578622 | p.Thr299Ile | missense variant | - | NC_000010.11:g.33254113G>A | ExAC,TOPMed,gnomAD |
rs746578622 | p.Thr299Asn | missense variant | - | NC_000010.11:g.33254113G>T | ExAC,TOPMed,gnomAD |
rs985863213 | p.Trp301Leu | missense variant | - | NC_000010.11:g.33254107C>A | TOPMed |
rs774889924 | p.Arg305Cys | missense variant | - | NC_000010.11:g.33254096G>A | ExAC,gnomAD |
rs1174102640 | p.Arg305His | missense variant | - | NC_000010.11:g.33254095C>T | TOPMed |
rs771374851 | p.Arg307Cys | missense variant | - | NC_000010.11:g.33254090G>A | ExAC,TOPMed,gnomAD |
rs749859903 | p.Arg307Leu | missense variant | - | NC_000010.11:g.33254089C>A | ExAC,gnomAD |
rs771374851 | p.Arg307Ser | missense variant | - | NC_000010.11:g.33254090G>T | ExAC,TOPMed,gnomAD |
rs930398633 | p.Tyr310His | missense variant | - | NC_000010.11:g.33254081A>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Pro311His | missense variant | - | NC_000010.11:g.33254077G>T | NCI-TCGA |
rs778394341 | p.Pro311Ser | missense variant | - | NC_000010.11:g.33254078G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Glu312Lys | missense variant | - | NC_000010.11:g.33254075C>T | NCI-TCGA |
rs748245414 | p.Glu312Gly | missense variant | - | NC_000010.11:g.33254074T>C | ExAC,gnomAD |
rs1359535322 | p.Pro317His | missense variant | - | NC_000010.11:g.33254059G>T | gnomAD |
NCI-TCGA novel | p.Gly318Ter | stop gained | - | NC_000010.11:g.33254057C>A | NCI-TCGA |
rs779844067 | p.Gly318Arg | missense variant | - | NC_000010.11:g.33254057C>G | ExAC,TOPMed,gnomAD |
rs779844067 | p.Gly318Arg | missense variant | - | NC_000010.11:g.33254057C>T | ExAC,TOPMed,gnomAD |
rs1393110479 | p.Glu319Gln | missense variant | - | NC_000010.11:g.33254054C>G | TOPMed,gnomAD |
COSM3437409 | p.Ser321Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33254047G>A | NCI-TCGA Cosmic |
rs1427093763 | p.Arg323Gln | missense variant | - | NC_000010.11:g.33254041C>T | TOPMed,gnomAD |
rs751737800 | p.Glu324Asp | missense variant | - | NC_000010.11:g.33254037C>G | ExAC,gnomAD |
COSM4874388 | p.Trp325Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33254036A>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asp329Asn | missense variant | - | NC_000010.11:g.33226286C>T | NCI-TCGA |
NCI-TCGA novel | p.Gly331Ser | missense variant | - | NC_000010.11:g.33226280C>T | NCI-TCGA |
rs1254302895 | p.Leu332Val | missense variant | - | NC_000010.11:g.33226277G>C | TOPMed |
COSM4913248 | p.Leu332Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33226277G>A | NCI-TCGA Cosmic |
rs747418517 | p.Arg334Ser | missense variant | - | NC_000010.11:g.33226271G>T | ExAC,TOPMed,gnomAD |
rs747418517 | p.Arg334Cys | missense variant | - | NC_000010.11:g.33226271G>A | ExAC,TOPMed,gnomAD |
rs754511946 | p.Arg334His | missense variant | - | NC_000010.11:g.33226270C>T | ExAC,TOPMed,gnomAD |
rs747418517 | p.Arg334Cys | missense variant | - | NC_000010.11:g.33226271G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs765938650 | p.Val336Leu | missense variant | - | NC_000010.11:g.33226265C>G | ExAC,gnomAD |
rs367928513 | p.Thr337Ala | missense variant | - | NC_000010.11:g.33226262T>C | ESP,ExAC,TOPMed,gnomAD |
rs142121081 | p.Thr337Met | missense variant | - | NC_000010.11:g.33226261G>A | ESP,ExAC,TOPMed,gnomAD |
rs142121081 | p.Thr337Arg | missense variant | - | NC_000010.11:g.33226261G>C | ESP,ExAC,TOPMed,gnomAD |
rs142121081 | p.Thr337Met | missense variant | - | NC_000010.11:g.33226261G>A | NCI-TCGA |
rs553769055 | p.Gly340Arg | missense variant | - | NC_000010.11:g.33226253C>T | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Gly340Glu | missense variant | - | NC_000010.11:g.33226252C>T | NCI-TCGA |
rs553769055 | p.Gly340Arg | missense variant | - | NC_000010.11:g.33226253C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs200760101 | p.Gln342His | missense variant | - | NC_000010.11:g.33226245C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs771071490 | p.Ala344Thr | missense variant | - | NC_000010.11:g.33226241C>T | ExAC,gnomAD |
rs771071490 | p.Ala344Thr | missense variant | - | NC_000010.11:g.33226241C>T | NCI-TCGA,NCI-TCGA Cosmic |
COSM3437405 | p.Ala344Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33226240G>A | NCI-TCGA Cosmic |
rs773170786 | p.Ile345Thr | missense variant | - | NC_000010.11:g.33226237A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser346Leu | missense variant | - | NC_000010.11:g.33226234G>A | NCI-TCGA |
rs1385898695 | p.Lys347Glu | missense variant | - | NC_000010.11:g.33226232T>C | TOPMed |
rs748142955 | p.Lys347Asn | missense variant | - | NC_000010.11:g.33226230T>G | ExAC,gnomAD |
NCI-TCGA novel | p.Glu348Ter | stop gained | - | NC_000010.11:g.33226229C>A | NCI-TCGA |
rs1475387169 | p.Thr349Ser | missense variant | - | NC_000010.11:g.33226225G>C | TOPMed,gnomAD |
rs754598313 | p.Lys351Arg | missense variant | - | NC_000010.11:g.33226219T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Tyr353Phe | missense variant | - | NC_000010.11:g.33226213T>A | NCI-TCGA |
rs1237897247 | p.Tyr354Cys | missense variant | - | NC_000010.11:g.33226210T>C | gnomAD |
rs571665973 | p.Val355Ile | missense variant | - | NC_000010.11:g.33226208C>T | 1000Genomes,ExAC,gnomAD |
rs374630762 | p.Thr357Asn | missense variant | - | NC_000010.11:g.33226201G>T | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Tyr358GlnPheSerTerUnk | frameshift | - | NC_000010.11:g.33226198_33226199TA>- | NCI-TCGA |
rs149966206 | p.Lys359Met | missense variant | - | NC_000010.11:g.33226195T>A | ESP,ExAC,TOPMed,gnomAD |
rs139187411 | p.Ile360Met | missense variant | - | NC_000010.11:g.33226191G>C | ESP,ExAC,TOPMed,gnomAD |
rs756440174 | p.Asp361His | missense variant | - | NC_000010.11:g.33226190C>G | ExAC,TOPMed,gnomAD |
rs756440174 | p.Asp361Asn | missense variant | - | NC_000010.11:g.33226190C>T | ExAC,TOPMed,gnomAD |
rs1355895172 | p.Ser364Pro | missense variant | - | NC_000010.11:g.33226181A>G | gnomAD |
rs776033868 | p.Asn365Ser | missense variant | - | NC_000010.11:g.33226177T>C | TOPMed |
rs370551432 | p.Gly366Arg | missense variant | - | NC_000010.11:g.33226175C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs370551432 | p.Gly366Arg | missense variant | - | NC_000010.11:g.33226175C>T | ESP,ExAC,TOPMed,gnomAD |
rs911784141 | p.Asp368Glu | missense variant | - | NC_000010.11:g.33226167G>C | TOPMed |
rs1478923374 | p.Trp369Gly | missense variant | - | NC_000010.11:g.33226166A>C | TOPMed |
NCI-TCGA novel | p.Trp369Cys | missense variant | - | NC_000010.11:g.33226164C>A | NCI-TCGA |
rs199673539 | p.Ile370Thr | missense variant | - | NC_000010.11:g.33226162A>G | ESP,ExAC,TOPMed,gnomAD |
rs530168426 | p.Thr371Ile | missense variant | - | NC_000010.11:g.33226159G>A | 1000Genomes,ExAC,gnomAD |
rs766440717 | p.Thr371Ala | missense variant | - | NC_000010.11:g.33226160T>C | ExAC,gnomAD |
rs773543182 | p.Ile372Val | missense variant | - | NC_000010.11:g.33226157T>C | ExAC,gnomAD |
rs945004288 | p.Gly375Glu | missense variant | - | NC_000010.11:g.33226147C>T | TOPMed |
rs769749073 | p.Asn376Ser | missense variant | - | NC_000010.11:g.33226144T>C | NCI-TCGA,NCI-TCGA Cosmic |
rs769749073 | p.Asn376Ser | missense variant | - | NC_000010.11:g.33226144T>C | ExAC,gnomAD |
rs1413987416 | p.Lys377Asn | missense variant | - | NC_000010.11:g.33226140T>G | gnomAD |
rs1164817714 | p.Pro378Arg | missense variant | - | NC_000010.11:g.33226138G>C | TOPMed,gnomAD |
rs747948664 | p.Val379Ile | missense variant | - | NC_000010.11:g.33226136C>T | ExAC,gnomAD |
rs1379433473 | p.Val379Ala | missense variant | - | NC_000010.11:g.33226135A>G | gnomAD |
NCI-TCGA novel | p.Gln382Ter | stop gained | - | NC_000010.11:g.33221857G>A | NCI-TCGA |
rs1196047532 | p.Gln382Pro | missense variant | - | NC_000010.11:g.33221856T>G | TOPMed |
rs762065562 | p.Asn384Lys | missense variant | - | NC_000010.11:g.33221849G>C | ExAC,gnomAD |
rs776602965 | p.Thr385Pro | missense variant | - | NC_000010.11:g.33221848T>G | ExAC,gnomAD |
rs775470113 | p.Thr388Ser | missense variant | - | NC_000010.11:g.33221839T>A | ExAC,TOPMed,gnomAD |
rs771549854 | p.Asp389Glu | missense variant | - | NC_000010.11:g.33221834A>T | ExAC,gnomAD |
COSM3414996 | p.Asp389Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33221836C>A | NCI-TCGA Cosmic |
rs745371202 | p.Val390Ile | missense variant | - | NC_000010.11:g.33221833C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Val391Ala | missense variant | - | NC_000010.11:g.33221829A>G | NCI-TCGA |
rs1414962803 | p.Val392Phe | missense variant | - | NC_000010.11:g.33221827C>A | gnomAD |
rs1427139883 | p.Pro398Leu | missense variant | - | NC_000010.11:g.33221808G>A | TOPMed |
rs748899944 | p.Ile400Thr | missense variant | - | NC_000010.11:g.33221802A>G | ExAC,gnomAD |
rs1476965621 | p.Ile400Val | missense variant | - | NC_000010.11:g.33221803T>C | gnomAD |
rs781431241 | p.Thr401Ile | missense variant | - | NC_000010.11:g.33221799G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Arg402Ter | stop gained | - | NC_000010.11:g.33221797G>A | NCI-TCGA |
rs755346095 | p.Arg402Gln | missense variant | - | NC_000010.11:g.33221796C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs755346095 | p.Arg402Gln | missense variant | - | NC_000010.11:g.33221796C>T | ExAC,TOPMed,gnomAD |
rs752043800 | p.Arg405Gln | missense variant | - | NC_000010.11:g.33221787C>T | ExAC,TOPMed,gnomAD |
COSM6129254 | p.Arg405Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.33221788G>A | NCI-TCGA Cosmic |
rs750540463 | p.Ala409Glu | missense variant | - | NC_000010.11:g.33221775G>T | ExAC,gnomAD |
rs758460720 | p.Ala409Thr | missense variant | - | NC_000010.11:g.33221776C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Glu412Asp | missense variant | - | NC_000010.11:g.33221765T>A | NCI-TCGA |
rs1004627552 | p.Thr413Ser | missense variant | - | NC_000010.11:g.33221764T>A | TOPMed |
rs762153303 | p.Ile415Val | missense variant | - | NC_000010.11:g.33221758T>C | ExAC,gnomAD |
rs754093395 | p.Ile415Thr | missense variant | - | NC_000010.11:g.33221757A>G | ExAC,gnomAD |
rs369312020 | p.Ser416Tyr | missense variant | - | NC_000010.11:g.33221754G>T | ESP,ExAC,gnomAD |
rs369312020 | p.Ser416Phe | missense variant | - | NC_000010.11:g.33221754G>A | NCI-TCGA |
rs369312020 | p.Ser416Phe | missense variant | - | NC_000010.11:g.33221754G>A | ESP,ExAC,gnomAD |
rs1295915647 | p.Ser416Pro | missense variant | - | NC_000010.11:g.33221755A>G | TOPMed |
rs576366181 | p.Met417Val | missense variant | - | NC_000010.11:g.33221752T>C | gnomAD |
COSM3437397 | p.Met417Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33221750C>T | NCI-TCGA Cosmic |
rs1430431200 | p.Phe419Val | missense variant | - | NC_000010.11:g.33221746A>C | TOPMed |
rs1430431200 | p.Phe419Leu | missense variant | - | NC_000010.11:g.33221746A>G | TOPMed |
rs775349899 | p.Val421Ala | missense variant | - | NC_000010.11:g.33221739A>G | ExAC,gnomAD |
rs775349899 | p.Val421Ala | missense variant | - | NC_000010.11:g.33221739A>G | NCI-TCGA,NCI-TCGA Cosmic |
rs1408118336 | p.Gly423Ser | missense variant | - | NC_000010.11:g.33221734C>T | gnomAD |
COSM4947656 | p.Gly423Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33221733C>G | NCI-TCGA Cosmic |
rs1280262067 | p.Cys424Ter | stop gained | - | NC_000010.11:g.33221729G>T | TOPMed |
rs1178713109 | p.Lys425Met | missense variant | - | NC_000010.11:g.33221727T>A | TOPMed,gnomAD |
rs770379832 | p.Ile426Thr | missense variant | - | NC_000010.11:g.33221724A>G | ExAC,gnomAD |
rs748987885 | p.Thr427Arg | missense variant | - | NC_000010.11:g.33221721G>C | ExAC |
rs767177302 | p.Tyr429Asn | missense variant | - | NC_000010.11:g.33213715A>T | ExAC,TOPMed,gnomAD |
rs1164557074 | p.Pro430Ser | missense variant | - | NC_000010.11:g.33213712G>A | gnomAD |
rs145954532 | p.Ser432Phe | missense variant | - | NC_000010.11:g.33213705G>A | ESP,ExAC,TOPMed,gnomAD |
rs1441999445 | p.Gly433Val | missense variant | - | NC_000010.11:g.33213702C>A | TOPMed |
rs774247461 | p.Met434Thr | missense variant | - | NC_000010.11:g.33213699A>G | ExAC,gnomAD |
rs765913209 | p.Leu435Met | missense variant | - | NC_000010.11:g.33213697A>T | ExAC |
rs1157381199 | p.Gly436Val | missense variant | - | NC_000010.11:g.33213693C>A | TOPMed |
rs772795504 | p.Met437Val | missense variant | - | NC_000010.11:g.33213691T>C | ExAC,gnomAD |
rs1238266451 | p.Met437Ile | missense variant | - | NC_000010.11:g.33213689C>T | gnomAD |
rs1196962374 | p.Ser439Ala | missense variant | - | NC_000010.11:g.33213685A>C | TOPMed,gnomAD |
COSM6129258 | p.Gly440Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33213682C>G | NCI-TCGA Cosmic |
COSM3437393 | p.Gly440Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33213682C>T | NCI-TCGA Cosmic |
rs1487318606 | p.Ile442Phe | missense variant | - | NC_000010.11:g.33213676T>A | TOPMed,gnomAD |
rs1245041209 | p.Ser443Phe | missense variant | - | NC_000010.11:g.33213672G>A | TOPMed,gnomAD |
rs769495258 | p.Ser443Pro | missense variant | - | NC_000010.11:g.33213673A>G | ExAC,gnomAD |
rs775948593 | p.Ile447Leu | missense variant | - | NC_000010.11:g.33213661T>G | ExAC |
rs199883581 | p.Thr448Ala | missense variant | - | NC_000010.11:g.33213658T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly453Arg | missense variant | - | NC_000010.11:g.33213643C>T | NCI-TCGA |
rs375128788 | p.Gly453Glu | missense variant | - | NC_000010.11:g.33213642C>T | ESP,ExAC,gnomAD |
rs779560935 | p.Asp454Tyr | missense variant | - | NC_000010.11:g.33213640C>A | ExAC,TOPMed,gnomAD |
rs779560935 | p.Asp454Asn | missense variant | - | NC_000010.11:g.33213640C>T | ExAC,TOPMed,gnomAD |
rs1425527048 | p.Met458Thr | missense variant | - | NC_000010.11:g.33213627A>G | gnomAD |
rs1302091427 | p.Met458Ile | missense variant | - | NC_000010.11:g.33213626C>T | gnomAD |
rs529636463 | p.Met458Val | missense variant | - | NC_000010.11:g.33213628T>C | 1000Genomes,ExAC,gnomAD |
rs777648377 | p.Pro459Thr | missense variant | - | NC_000010.11:g.33213625G>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu460Gln | missense variant | - | NC_000010.11:g.33213622C>G | NCI-TCGA |
rs1246937435 | p.Arg463His | missense variant | - | NC_000010.11:g.33213612C>T | TOPMed |
rs1240303141 | p.Arg463Cys | missense variant | - | NC_000010.11:g.33213613G>A | TOPMed,gnomAD |
rs200660300 | p.Leu464Arg | missense variant | - | NC_000010.11:g.33213609A>C | 1000Genomes,ExAC,gnomAD |
rs540725422 | p.Val465Ile | missense variant | - | NC_000010.11:g.33213607C>T | 1000Genomes,ExAC |
rs767349233 | p.Thr466Ser | missense variant | - | NC_000010.11:g.33213604T>A | ExAC,gnomAD |
rs1364837534 | p.Ser467Arg | missense variant | - | NC_000010.11:g.33213599A>C | gnomAD |
COSM4838036 | p.Ser467Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33213600C>G | NCI-TCGA Cosmic |
rs751563527 | p.Arg468His | missense variant | - | NC_000010.11:g.33213597C>T | ExAC,gnomAD |
rs532348709 | p.Arg468Cys | missense variant | - | NC_000010.11:g.33213598G>A | 1000Genomes,ExAC,gnomAD |
rs766287742 | p.Leu473Pro | missense variant | - | NC_000010.11:g.33213582A>G | ExAC,TOPMed,gnomAD |
rs564902260 | p.Ala476Ser | missense variant | - | NC_000010.11:g.33213574C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs564902260 | p.Ala476Thr | missense variant | - | NC_000010.11:g.33213574C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs564902260 | p.Ala476Pro | missense variant | - | NC_000010.11:g.33213574C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1215544814 | p.Ala476Val | missense variant | - | NC_000010.11:g.33213573G>A | TOPMed,gnomAD |
rs1230932764 | p.Pro477His | missense variant | - | NC_000010.11:g.33213570G>T | TOPMed,gnomAD |
rs776118668 | p.Pro477Ser | missense variant | - | NC_000010.11:g.33213571G>A | ExAC,gnomAD |
rs1042934113 | p.Asn482Ser | missense variant | - | NC_000010.11:g.33213555T>C | gnomAD |
COSM427515 | p.Glu483Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33213553C>T | NCI-TCGA Cosmic |
rs774800046 | p.Trp484Cys | missense variant | - | NC_000010.11:g.33213548C>A | ExAC |
rs759969860 | p.Trp484Ter | stop gained | - | NC_000010.11:g.33213549C>T | ExAC,gnomAD |
COSM4013909 | p.Trp484Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.33213548C>T | NCI-TCGA Cosmic |
rs890641054 | p.Leu485Pro | missense variant | - | NC_000010.11:g.33213546A>G | TOPMed |
rs182437025 | p.Ile487Val | missense variant | - | NC_000010.11:g.33213541T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs376390429 | p.Ile487Met | missense variant | - | NC_000010.11:g.33213539T>C | ESP,ExAC,TOPMed,gnomAD |
rs769737936 | p.Asp488His | missense variant | - | NC_000010.11:g.33213538C>G | ExAC,gnomAD |
rs1190279010 | p.Leu489Val | missense variant | - | NC_000010.11:g.33213535G>C | TOPMed |
rs781387948 | p.Gly490Glu | missense variant | - | NC_000010.11:g.33213531C>T | ExAC,TOPMed,gnomAD |
rs1160845721 | p.Gly490Arg | missense variant | - | NC_000010.11:g.33213532C>G | gnomAD |
rs1376633400 | p.Glu491Lys | missense variant | - | NC_000010.11:g.33213529C>T | TOPMed,gnomAD |
rs754822166 | p.Lys493Arg | missense variant | - | NC_000010.11:g.33213522T>C | ExAC,gnomAD |
COSM1560800 | p.Lys493Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33213522T>G | NCI-TCGA Cosmic |
rs892763734 | p.Ile494Leu | missense variant | - | NC_000010.11:g.33213520T>G | TOPMed |
rs749575467 | p.Val495Met | missense variant | - | NC_000010.11:g.33213517C>T | ExAC,TOPMed,gnomAD |
rs1192699113 | p.Gly497Ser | missense variant | - | NC_000010.11:g.33213511C>T | gnomAD |
rs1447416741 | p.Gly497Ala | missense variant | - | NC_000010.11:g.33213510C>G | TOPMed,gnomAD |
rs1447416741 | p.Gly497Asp | missense variant | - | NC_000010.11:g.33213510C>T | TOPMed,gnomAD |
rs1198715278 | p.Ile498Leu | missense variant | - | NC_000010.11:g.33213508T>G | gnomAD |
rs758389396 | p.Ile499Val | missense variant | - | NC_000010.11:g.33213505T>C | ExAC,TOPMed |
rs764845863 | p.His505Tyr | missense variant | - | NC_000010.11:g.33213487G>A | ExAC,gnomAD |
rs554892989 | p.Arg506Gln | missense variant | - | NC_000010.11:g.33213483C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg506Ter | stop gained | - | NC_000010.11:g.33213484G>A | NCI-TCGA |
rs1276594573 | p.Glu507Lys | missense variant | - | NC_000010.11:g.33213481C>T | gnomAD |
rs763853549 | p.Asn508Tyr | missense variant | - | NC_000010.11:g.33213478T>A | ExAC,TOPMed,gnomAD |
rs1327457530 | p.Lys509Thr | missense variant | - | NC_000010.11:g.33213474T>G | gnomAD |
rs1402043333 | p.Phe511Leu | missense variant | - | NC_000010.11:g.33213467G>C | gnomAD |
rs774890067 | p.Phe511Val | missense variant | - | NC_000010.11:g.33213469A>C | ExAC,TOPMed,gnomAD |
rs774890067 | p.Phe511Leu | missense variant | - | NC_000010.11:g.33213469A>G | ExAC,TOPMed,gnomAD |
rs771375002 | p.Met512Val | missense variant | - | NC_000010.11:g.33213466T>C | ExAC,gnomAD |
rs1470644534 | p.Lys514Asn | missense variant | - | NC_000010.11:g.33213458C>A | TOPMed,gnomAD |
rs763563755 | p.Ile517Val | missense variant | - | NC_000010.11:g.33213451T>C | ExAC,gnomAD |
rs1169600404 | p.Ile517Thr | missense variant | - | NC_000010.11:g.33213450A>G | gnomAD |
rs769982693 | p.Gly518Arg | missense variant | - | NC_000010.11:g.33213448C>T | ExAC,TOPMed,gnomAD |
rs1475173245 | p.Tyr519Phe | missense variant | - | NC_000010.11:g.33213444T>A | TOPMed |
rs543390398 | p.Ser520Gly | missense variant | - | NC_000010.11:g.33213442T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1205457813 | p.Gly523Ser | missense variant | - | NC_000010.11:g.33213433C>T | TOPMed,gnomAD |
rs117525057 | p.Ser524Leu | missense variant | - | NC_000010.11:g.33213429G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asp525Asn | missense variant | - | NC_000010.11:g.33213427C>T | NCI-TCGA |
NCI-TCGA novel | p.Trp526Ter | stop gained | - | NC_000010.11:g.33213422C>T | NCI-TCGA |
COSM917831 | p.Trp526Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.33213423C>T | NCI-TCGA Cosmic |
rs1304164758 | p.Met528Arg | missense variant | - | NC_000010.11:g.33213417A>C | gnomAD |
rs1340253141 | p.Met528Val | missense variant | - | NC_000010.11:g.33213418T>C | gnomAD |
COSM4400596 | p.Met528Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33213416C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Met530Ile | missense variant | - | NC_000010.11:g.33213410C>T | NCI-TCGA |
rs1272293907 | p.Met530Thr | missense variant | - | NC_000010.11:g.33213411A>G | gnomAD |
rs1222857683 | p.Asp531Asn | missense variant | - | NC_000010.11:g.33213409C>T | gnomAD |
NCI-TCGA novel | p.Asp531His | missense variant | - | NC_000010.11:g.33213409C>G | NCI-TCGA |
rs778706384 | p.Asp532Glu | missense variant | - | NC_000010.11:g.33213404G>T | ExAC,gnomAD |
rs371533986 | p.Asp532Tyr | missense variant | - | NC_000010.11:g.33213406C>A | ESP,ExAC,gnomAD |
rs763657085 | p.Arg535Pro | missense variant | - | NC_000010.11:g.33213396C>G | ExAC,TOPMed,gnomAD |
rs757164139 | p.Arg535Cys | missense variant | - | NC_000010.11:g.33213397G>A | ExAC,gnomAD |
rs763657085 | p.Arg535His | missense variant | - | NC_000010.11:g.33213396C>T | ExAC,TOPMed,gnomAD |
rs760427841 | p.Ala537Val | missense variant | - | NC_000010.11:g.33213390G>A | ExAC,TOPMed,gnomAD |
rs1330019086 | p.Ala537Thr | missense variant | - | NC_000010.11:g.33213391C>T | gnomAD |
NCI-TCGA novel | p.Ser539Tyr | missense variant | - | NC_000010.11:g.33207715G>T | NCI-TCGA |
rs1282161805 | p.Glu541Lys | missense variant | - | NC_000010.11:g.33207710C>T | TOPMed |
rs1288766705 | p.Glu541Asp | missense variant | - | NC_000010.11:g.33207708C>G | gnomAD |
rs1203567172 | p.Gly542Ala | missense variant | - | NC_000010.11:g.33207706C>G | gnomAD |
rs1264457405 | p.Asn543Ser | missense variant | - | NC_000010.11:g.33207703T>C | gnomAD |
rs773082833 | p.Asn544Ser | missense variant | - | NC_000010.11:g.33207700T>C | ExAC,gnomAD |
rs1306488561 | p.Tyr546Asp | missense variant | - | NC_000010.11:g.33207695A>C | TOPMed,gnomAD |
rs769859201 | p.Tyr546Phe | missense variant | - | NC_000010.11:g.33207694T>A | ExAC,gnomAD |
rs1306488561 | p.Tyr546His | missense variant | - | NC_000010.11:g.33207695A>G | TOPMed,gnomAD |
rs201841993 | p.Thr548Ile | missense variant | - | NC_000010.11:g.33207688G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs768187031 | p.Leu551Val | missense variant | - | NC_000010.11:g.33207680G>C | ExAC,TOPMed,gnomAD |
rs779745790 | p.Arg552Trp | missense variant | - | NC_000010.11:g.33207677G>A | ExAC,TOPMed,gnomAD |
rs757990959 | p.Arg552Gln | missense variant | - | NC_000010.11:g.33207676C>T | ExAC,TOPMed,gnomAD |
rs778076075 | p.Thr553Ile | missense variant | - | NC_000010.11:g.33207673G>A | ExAC,TOPMed,gnomAD |
rs754210318 | p.Thr553Ser | missense variant | - | NC_000010.11:g.33207674T>A | ExAC,gnomAD |
rs756636306 | p.Phe554Leu | missense variant | - | NC_000010.11:g.33207671A>G | ExAC,gnomAD |
rs775164675 | p.Pro555Leu | missense variant | - | NC_000010.11:g.33207667G>A | gnomAD |
rs190763052 | p.Leu557Phe | missense variant | - | NC_000010.11:g.33207662G>A | 1000Genomes,ExAC,gnomAD |
rs190763052 | p.Leu557Val | missense variant | - | NC_000010.11:g.33207662G>C | 1000Genomes,ExAC,gnomAD |
rs143124682 | p.Thr559Met | missense variant | - | NC_000010.11:g.33207655G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs374062923 | p.Arg560Gly | missense variant | - | NC_000010.11:g.33207653G>C | ESP,ExAC,TOPMed,gnomAD |
rs374062923 | p.Arg560Ter | stop gained | - | NC_000010.11:g.33207653G>A | ESP,ExAC,TOPMed,gnomAD |
rs764907882 | p.Arg560ArgTerUnk | stop gained | - | NC_000010.11:g.33207652_33207653insTACC | ExAC,gnomAD |
rs773172539 | p.Arg560Gln | missense variant | - | NC_000010.11:g.33207652C>T | ExAC,TOPMed,gnomAD |
rs376983601 | p.Phe561Ile | missense variant | - | NC_000010.11:g.33207650A>T | ESP,ExAC,TOPMed,gnomAD |
rs2228637 | p.Phe561Leu | missense variant | - | NC_000010.11:g.33207648G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1163132501 | p.Ile562Leu | missense variant | - | NC_000010.11:g.33207647T>G | gnomAD |
COSM3867132 | p.Arg563Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33207643C>T | NCI-TCGA Cosmic |
rs1445076308 | p.Ile564Phe | missense variant | - | NC_000010.11:g.33207641T>A | TOPMed |
rs1384816655 | p.Ile564Thr | missense variant | - | NC_000010.11:g.33207640A>G | TOPMed,gnomAD |
rs776598307 | p.Tyr565His | missense variant | - | NC_000010.11:g.33207638A>G | ExAC,gnomAD |
rs1389697580 | p.Pro566Thr | missense variant | - | NC_000010.11:g.33207635G>T | TOPMed,gnomAD |
rs1463719475 | p.Glu567Gly | missense variant | - | NC_000010.11:g.33207631T>C | gnomAD |
rs746545228 | p.Glu567Lys | missense variant | - | NC_000010.11:g.33207632C>T | ExAC,gnomAD |
rs950528977 | p.Thr570Ser | missense variant | - | NC_000010.11:g.33207622G>C | TOPMed |
rs771747547 | p.His571Arg | missense variant | - | NC_000010.11:g.33207619T>C | ExAC,TOPMed,gnomAD |
rs771747547 | p.His571Leu | missense variant | - | NC_000010.11:g.33207619T>A | ExAC,TOPMed,gnomAD |
rs778160256 | p.Gly573Arg | missense variant | - | NC_000010.11:g.33207614C>T | ExAC,TOPMed,gnomAD |
COSM4874375 | p.Gly573Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33207613C>T | NCI-TCGA Cosmic |
rs569952285 | p.Leu574Val | missense variant | - | NC_000010.11:g.33207611G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg577Thr | missense variant | - | NC_000010.11:g.33207601C>G | NCI-TCGA |
rs61760419 | p.Leu580Met | missense variant | - | NC_000010.11:g.33207593G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu584Ter | stop gained | - | NC_000010.11:g.33207581C>A | NCI-TCGA |
rs1457045538 | p.Glu584Lys | missense variant | - | NC_000010.11:g.33207581C>T | TOPMed |
rs758712396 | p.Val585Ala | missense variant | - | NC_000010.11:g.33207577A>G | ExAC,TOPMed,gnomAD |
rs758712396 | p.Val585Gly | missense variant | - | NC_000010.11:g.33207577A>C | ExAC,TOPMed,gnomAD |
COSM3807096 | p.Glu586Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33207575C>T | NCI-TCGA Cosmic |
rs754732280 | p.Ala587Val | missense variant | - | NC_000010.11:g.33202995G>A | ExAC,TOPMed,gnomAD |
rs750648742 | p.Ala587Thr | missense variant | - | NC_000010.11:g.33207572C>T | ExAC,gnomAD |
rs568996715 | p.Ala590Thr | missense variant | - | NC_000010.11:g.33202987C>T | TOPMed,gnomAD |
rs568996715 | p.Ala590Pro | missense variant | - | NC_000010.11:g.33202987C>G | TOPMed,gnomAD |
rs747034072 | p.Gly591Glu | missense variant | - | NC_000010.11:g.33202983C>T | ExAC,gnomAD |
rs201038869 | p.Pro592Leu | missense variant | - | NC_000010.11:g.33202980G>A | 1000Genomes,TOPMed,gnomAD |
rs201038869 | p.Pro592Gln | missense variant | - | NC_000010.11:g.33202980G>T | 1000Genomes,TOPMed,gnomAD |
NCI-TCGA novel | p.Thr593Ser | missense variant | - | NC_000010.11:g.33202977G>C | NCI-TCGA |
rs377066073 | p.Thr594Ile | missense variant | - | NC_000010.11:g.33202974G>A | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Pro595His | missense variant | - | NC_000010.11:g.33202971G>T | NCI-TCGA |
rs147055093 | p.Asn596Lys | missense variant | - | NC_000010.11:g.33202967G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs141633354 | p.Gly597Arg | missense variant | - | NC_000010.11:g.33202966C>G | ESP,ExAC,TOPMed,gnomAD |
rs1428559055 | p.Gly597Glu | missense variant | - | NC_000010.11:g.33202965C>T | TOPMed,gnomAD |
rs141633354 | p.Gly597Arg | missense variant | - | NC_000010.11:g.33202966C>T | ESP,ExAC,TOPMed,gnomAD |
rs148041491 | p.Leu599Phe | missense variant | - | NC_000010.11:g.33202958C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs554875974 | p.Val600Ala | missense variant | - | NC_000010.11:g.33202956A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu602Asp | missense variant | - | NC_000010.11:g.33202949T>G | NCI-TCGA |
rs890907414 | p.Cys603Trp | missense variant | - | NC_000010.11:g.33202946A>C | TOPMed,gnomAD |
rs1164063912 | p.Asp604Val | missense variant | - | NC_000010.11:g.33202944T>A | TOPMed |
rs148913335 | p.Asp605Glu | missense variant | - | NC_000010.11:g.33202940G>T | ESP,ExAC,TOPMed,gnomAD |
rs766803868 | p.Asp606Asn | missense variant | - | NC_000010.11:g.33202939C>T | ExAC,TOPMed,gnomAD |
rs1430430503 | p.Gln607Arg | missense variant | - | NC_000010.11:g.33202935T>C | gnomAD |
NCI-TCGA novel | p.Ala608Thr | missense variant | - | NC_000010.11:g.33202933C>T | NCI-TCGA |
rs773185314 | p.Asn609Ser | missense variant | - | NC_000010.11:g.33202929T>C | ExAC,TOPMed,gnomAD |
rs1485190718 | p.Cys610Tyr | missense variant | - | NC_000010.11:g.33202926C>T | gnomAD |
rs776830169 | p.Ser612Cys | missense variant | - | NC_000010.11:g.33202921T>A | ExAC,TOPMed,gnomAD |
rs776830169 | p.Ser612Gly | missense variant | - | NC_000010.11:g.33202921T>C | ExAC,TOPMed,gnomAD |
rs768496698 | p.Gly613Glu | missense variant | - | NC_000010.11:g.33202917C>T | ExAC,gnomAD |
rs374297417 | p.Asp616Gly | missense variant | - | NC_000010.11:g.33202908T>C | ESP,TOPMed |
rs1183541610 | p.Phe618Leu | missense variant | - | NC_000010.11:g.33202901G>C | TOPMed,gnomAD |
rs1349348397 | p.Phe618Val | missense variant | - | NC_000010.11:g.33202903A>C | TOPMed |
rs746791525 | p.Gln619His | missense variant | - | NC_000010.11:g.33202898C>A | ExAC,gnomAD |
NCI-TCGA novel | p.Gln619Ter | stop gained | - | NC_000010.11:g.33202900G>A | NCI-TCGA |
rs747818891 | p.Gly622Asp | missense variant | - | NC_000010.11:g.33197709C>T | ExAC,gnomAD |
rs750790418 | p.Val626Met | missense variant | - | NC_000010.11:g.33197698C>T | ExAC,TOPMed,gnomAD |
rs1453286273 | p.Val626Ala | missense variant | - | NC_000010.11:g.33197697A>G | gnomAD |
rs750790418 | p.Val626Leu | missense variant | - | NC_000010.11:g.33197698C>G | ExAC,TOPMed,gnomAD |
COSM6129262 | p.Thr629Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33197689T>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Glu630Ter | stop gained | - | NC_000010.11:g.33197686C>A | NCI-TCGA |
rs201288994 | p.Thr633Met | missense variant | - | NC_000010.11:g.33197676G>A | ExAC,TOPMed,gnomAD |
rs757782302 | p.Val634Ile | missense variant | - | NC_000010.11:g.33197674C>T | ExAC,gnomAD |
rs563594298 | p.Ile635Thr | missense variant | - | NC_000010.11:g.33197670A>G | 1000Genomes,ExAC,gnomAD |
rs145594886 | p.Asp636Asn | missense variant | - | NC_000010.11:g.33197668C>T | ESP,ExAC,TOPMed,gnomAD |
rs1488877452 | p.Ser637Arg | missense variant | - | NC_000010.11:g.33197663G>T | TOPMed,gnomAD |
rs752665390 | p.Ser641Pro | missense variant | - | NC_000010.11:g.33197653A>G | ExAC,gnomAD |
rs1301385201 | p.Phe643Val | missense variant | - | NC_000010.11:g.33192416A>C | TOPMed,gnomAD |
rs1447492538 | p.Thr645Ala | missense variant | - | NC_000010.11:g.33192410T>C | gnomAD |
rs770248476 | p.Tyr646Cys | missense variant | - | NC_000010.11:g.33192406T>C | ExAC,gnomAD |
rs1379231419 | p.Glu651Ala | missense variant | - | NC_000010.11:g.33192391T>G | TOPMed |
COSM3437377 | p.Trp654Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.33192382C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Gly655Val | missense variant | - | NC_000010.11:g.33192379C>A | NCI-TCGA |
NCI-TCGA novel | p.Ser656Tyr | missense variant | - | NC_000010.11:g.33192376G>T | NCI-TCGA |
COSM6129263 | p.Ser656Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33192376G>C | NCI-TCGA Cosmic |
rs777065128 | p.Thr659Ser | missense variant | - | NC_000010.11:g.33192368T>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Phe660LeuPheSerTerUnk | frameshift | - | NC_000010.11:g.33192364_33192365AA>- | NCI-TCGA |
rs1450856854 | p.Phe660Ile | missense variant | - | NC_000010.11:g.33192365A>T | gnomAD |
COSM917827 | p.Phe660Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33192363G>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Cys661MetPheSerTerUnk | frameshift | - | NC_000010.11:g.33192362_33192363insT | NCI-TCGA |
rs1367824389 | p.Cys661Arg | missense variant | - | NC_000010.11:g.33192362A>G | TOPMed |
NCI-TCGA novel | p.Trp663GlyPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.33192357G>- | NCI-TCGA |
rs200822773 | p.His668Gln | missense variant | - | NC_000010.11:g.33192339G>T | 1000Genomes,ExAC,gnomAD |
rs1239008699 | p.Val669Gly | missense variant | - | NC_000010.11:g.33192337A>C | gnomAD |
rs529913964 | p.Val669Leu | missense variant | - | NC_000010.11:g.33192338C>A | ExAC,TOPMed,gnomAD |
COSM917826 | p.Val669Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33192338C>T | NCI-TCGA Cosmic |
rs1202125848 | p.Gln670Leu | missense variant | - | NC_000010.11:g.33192334T>A | gnomAD |
rs936954579 | p.Gln670Lys | missense variant | - | NC_000010.11:g.33192335G>T | TOPMed |
rs1422090938 | p.Leu671His | missense variant | - | NC_000010.11:g.33192331A>T | gnomAD |
rs1341153445 | p.Leu671Phe | missense variant | - | NC_000010.11:g.33192332G>A | gnomAD |
COSM4013897 | p.Lys672Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33192329T>C | NCI-TCGA Cosmic |
COSM3437376 | p.Trp673Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000010.11:g.33192324C>T | NCI-TCGA Cosmic |
rs1230520956 | p.Lys679Arg | missense variant | - | NC_000010.11:g.33192307T>C | gnomAD |
rs1344416935 | p.Thr680Ala | missense variant | - | NC_000010.11:g.33192305T>C | gnomAD |
rs779018926 | p.Thr680Met | missense variant | - | NC_000010.11:g.33192304G>A | ExAC,TOPMed,gnomAD |
rs1246960150 | p.Pro682His | missense variant | - | NC_000010.11:g.33192298G>T | TOPMed |
NCI-TCGA novel | p.Ile683Val | missense variant | - | NC_000010.11:g.33192296T>C | NCI-TCGA |
COSM3437375 | p.His686Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33192287G>A | NCI-TCGA Cosmic |
rs146457862 | p.Asn691Ser | missense variant | - | NC_000010.11:g.33186479T>C | ESP,ExAC,gnomAD |
rs1014613111 | p.Tyr694Phe | missense variant | - | NC_000010.11:g.33186470T>A | TOPMed,gnomAD |
rs374499493 | p.Ser695Tyr | missense variant | - | NC_000010.11:g.33186467G>T | ESP,ExAC,gnomAD |
COSM4899704 | p.Ser695Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33186467G>A | NCI-TCGA Cosmic |
rs775930939 | p.Asp698Glu | missense variant | - | NC_000010.11:g.33186457G>T | ExAC,gnomAD |
rs139081795 | p.Glu699Lys | missense variant | - | NC_000010.11:g.33186456C>T | ESP,ExAC,TOPMed,gnomAD |
rs1456408688 | p.Asn700Ser | missense variant | - | NC_000010.11:g.33186452T>C | gnomAD |
rs1303790632 | p.Gln701Pro | missense variant | - | NC_000010.11:g.33186449T>G | TOPMed |
rs530474285 | p.Lys702Asn | missense variant | - | NC_000010.11:g.33186445C>A | TOPMed |
rs760041017 | p.Lys704Glu | missense variant | - | NC_000010.11:g.33186441T>C | ExAC,gnomAD |
rs1160900157 | p.Val705Ala | missense variant | - | NC_000010.11:g.33186437A>G | TOPMed,gnomAD |
rs774346921 | p.Ala706Val | missense variant | - | NC_000010.11:g.33186434G>A | ExAC,TOPMed,gnomAD |
rs150891261 | p.Arg707Pro | missense variant | - | NC_000010.11:g.33186431C>G | ExAC,TOPMed,gnomAD |
rs150891261 | p.Arg707Leu | missense variant | - | NC_000010.11:g.33186431C>A | ExAC,TOPMed,gnomAD |
rs1376849398 | p.Arg707Cys | missense variant | - | NC_000010.11:g.33186432G>A | gnomAD |
rs150891261 | p.Arg707His | missense variant | - | NC_000010.11:g.33186431C>T | ExAC,TOPMed,gnomAD |
rs773413750 | p.Leu708Pro | missense variant | - | NC_000010.11:g.33186428A>G | ExAC,gnomAD |
rs747937442 | p.Val709Leu | missense variant | - | NC_000010.11:g.33186426C>A | ExAC,gnomAD |
rs747937442 | p.Val709Leu | missense variant | - | NC_000010.11:g.33186426C>G | ExAC,gnomAD |
rs1186703492 | p.Val709Gly | missense variant | - | NC_000010.11:g.33186425A>C | gnomAD |
rs747937442 | p.Val709Met | missense variant | - | NC_000010.11:g.33186426C>T | ExAC,gnomAD |
rs1464471836 | p.Pro711Ser | missense variant | - | NC_000010.11:g.33186420G>A | TOPMed,gnomAD |
rs1464471836 | p.Pro711Ala | missense variant | - | NC_000010.11:g.33186420G>C | TOPMed,gnomAD |
rs780997720 | p.Val713Ile | missense variant | - | NC_000010.11:g.33186414C>T | ExAC,gnomAD |
rs746941565 | p.Ser718Thr | missense variant | - | NC_000010.11:g.33186399A>T | ExAC,gnomAD |
rs746941565 | p.Ser718Pro | missense variant | - | NC_000010.11:g.33186399A>G | ExAC,gnomAD |
rs779467840 | p.Ala719Thr | missense variant | - | NC_000010.11:g.33186396C>T | ExAC,gnomAD |
rs1244672329 | p.His720Arg | missense variant | - | NC_000010.11:g.33186392T>C | TOPMed |
rs1015836785 | p.Met722Leu | missense variant | - | NC_000010.11:g.33186387T>G | TOPMed,gnomAD |
rs1015836785 | p.Met722Val | missense variant | - | NC_000010.11:g.33186387T>C | TOPMed,gnomAD |
rs1433776872 | p.Thr723Asn | missense variant | - | NC_000010.11:g.33186383G>T | gnomAD |
rs1365277992 | p.His727Tyr | missense variant | - | NC_000010.11:g.33186372G>A | gnomAD |
rs1182856724 | p.Ser729Thr | missense variant | - | NC_000010.11:g.33186366A>T | TOPMed |
rs757977129 | p.Ser731Phe | missense variant | - | NC_000010.11:g.33186359G>A | ExAC,TOPMed,gnomAD |
rs376053165 | p.His732Gln | missense variant | - | NC_000010.11:g.33186355G>T | ESP,ExAC,TOPMed,gnomAD |
rs750158069 | p.His732Arg | missense variant | - | NC_000010.11:g.33186356T>C | ExAC,TOPMed,gnomAD |
rs2228638 | p.Val733Ile | missense variant | - | NC_000010.11:g.33186354C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs767902777 | p.Gly734Ser | missense variant | - | NC_000010.11:g.33186351C>T | ExAC,TOPMed,gnomAD |
rs760005002 | p.Gly734Val | missense variant | - | NC_000010.11:g.33186350C>A | ExAC,gnomAD |
rs766507281 | p.Thr735Ile | missense variant | - | NC_000010.11:g.33186347G>A | ExAC,gnomAD |
COSM4403986 | p.Lys739Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33186336T>G | NCI-TCGA Cosmic |
rs554872876 | p.Arg741His | missense variant | - | NC_000010.11:g.33186329C>T | ExAC,TOPMed,gnomAD |
rs944958142 | p.Arg741Cys | missense variant | - | NC_000010.11:g.33186330G>A | TOPMed |
rs1433051547 | p.Tyr742His | missense variant | - | NC_000010.11:g.33186327A>G | TOPMed |
COSM1347660 | p.Glu746Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33186313C>A | NCI-TCGA Cosmic |
rs1350476471 | p.Glu747Asp | missense variant | - | NC_000010.11:g.33186310C>A | gnomAD |
rs566477081 | p.Asp749Tyr | missense variant | - | NC_000010.11:g.33186306C>A | 1000Genomes,ExAC,gnomAD |
rs566477081 | p.Asp749Asn | missense variant | - | NC_000010.11:g.33186306C>T | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Gln750Lys | missense variant | - | NC_000010.11:g.33186303G>T | NCI-TCGA |
rs374865894 | p.Gln750Pro | missense variant | - | NC_000010.11:g.33186302T>G | ESP,ExAC,gnomAD |
rs746985525 | p.Val752Ile | missense variant | - | NC_000010.11:g.33186297C>T | ExAC,gnomAD |
rs746985525 | p.Val752Phe | missense variant | - | NC_000010.11:g.33186297C>A | ExAC,gnomAD |
rs780027653 | p.Met754Ile | missense variant | - | NC_000010.11:g.33186289C>T | ExAC,TOPMed,gnomAD |
rs1014030560 | p.Ile756Met | missense variant | - | NC_000010.11:g.33186283A>C | gnomAD |
rs772069753 | p.Ile756Thr | missense variant | - | NC_000010.11:g.33186284A>G | ExAC,TOPMed,gnomAD |
rs745403355 | p.Gln759Glu | missense variant | - | NC_000010.11:g.33186276G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Gly760Cys | missense variant | - | NC_000010.11:g.33186273C>A | NCI-TCGA |
rs370641686 | p.Gly760Asp | missense variant | - | NC_000010.11:g.33186272C>T | ESP,TOPMed,gnomAD |
rs778519380 | p.Gly760Ser | missense variant | - | NC_000010.11:g.33186273C>T | ExAC,gnomAD |
NCI-TCGA novel | p.His762ProPheSerTerUnkUnk | frameshift | - | NC_000010.11:g.33186266_33186267insG | NCI-TCGA |
rs148799934 | p.Arg767His | missense variant | - | NC_000010.11:g.33186251C>T | ESP,TOPMed,gnomAD |
rs924149280 | p.Arg767Cys | missense variant | - | NC_000010.11:g.33186252G>A | TOPMed |
rs757021030 | p.Lys772Glu | missense variant | - | NC_000010.11:g.33186237T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Ser773Tyr | missense variant | - | NC_000010.11:g.33186233G>T | NCI-TCGA |
rs753501647 | p.Leu774Pro | missense variant | - | NC_000010.11:g.33186230A>G | ExAC,gnomAD |
rs1486897650 | p.Tyr777His | missense variant | - | NC_000010.11:g.33186222A>G | gnomAD |
rs1409925844 | p.Tyr777Phe | missense variant | - | NC_000010.11:g.33186221T>A | gnomAD |
rs775108406 | p.Val779Leu | missense variant | - | NC_000010.11:g.33185724C>A | ExAC,gnomAD |
rs1235145790 | p.Gly783Asp | missense variant | - | NC_000010.11:g.33185711C>T | gnomAD |
rs373328655 | p.Glu784Lys | missense variant | - | NC_000010.11:g.33185709C>T | 1000Genomes,ESP,ExAC,gnomAD |
rs777499693 | p.Gly786Arg | missense variant | - | NC_000010.11:g.33185703C>T | ExAC,TOPMed,gnomAD |
rs148330417 | p.Gly788Glu | missense variant | - | NC_000010.11:g.33185696C>T | ExAC,gnomAD |
rs550284385 | p.Gly791Cys | missense variant | - | NC_000010.11:g.33185688C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs370117610 | p.Gly791Asp | missense variant | - | NC_000010.11:g.33185687C>T | ESP,ExAC,gnomAD |
rs550284385 | p.Gly791Arg | missense variant | - | NC_000010.11:g.33185688C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1330613852 | p.Val795Met | missense variant | - | NC_000010.11:g.33185676C>T | gnomAD |
rs757346128 | p.Asp797His | missense variant | - | NC_000010.11:g.33185670C>G | ExAC,gnomAD |
rs1283585996 | p.Ser799Asn | missense variant | - | NC_000010.11:g.33185663C>T | TOPMed |
rs1346992017 | p.Asn802Lys | missense variant | - | NC_000010.11:g.33185653G>T | TOPMed |
rs753801764 | p.His803Tyr | missense variant | - | NC_000010.11:g.33185652G>A | ExAC,TOPMed,gnomAD |
rs764409827 | p.Ile804Leu | missense variant | - | NC_000010.11:g.33185649T>G | ExAC,gnomAD |
rs760760392 | p.Gln806His | missense variant | - | NC_000010.11:g.33185641T>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu807Gln | missense variant | - | NC_000010.11:g.33185640C>G | NCI-TCGA |
rs775477172 | p.Glu807Ala | missense variant | - | NC_000010.11:g.33185639T>G | ExAC,gnomAD |
rs1477961818 | p.Ala810Val | missense variant | - | NC_000010.11:g.33185630G>A | gnomAD |
NCI-TCGA novel | p.Asp814Tyr | missense variant | - | NC_000010.11:g.33182740C>A | NCI-TCGA |
NCI-TCGA novel | p.Asp816Asn | missense variant | - | NC_000010.11:g.33182734C>T | NCI-TCGA |
rs1447208247 | p.Lys818Gln | missense variant | - | NC_000010.11:g.33182728T>G | TOPMed,gnomAD |
rs764058650 | p.Lys818Asn | missense variant | - | NC_000010.11:g.33182726C>A | ExAC,TOPMed,gnomAD |
rs1188820892 | p.Asn819Tyr | missense variant | - | NC_000010.11:g.33182725T>A | gnomAD |
rs756401925 | p.Pro820Thr | missense variant | - | NC_000010.11:g.33182722G>T | ExAC,gnomAD |
rs1381061538 | p.Pro820Leu | missense variant | - | NC_000010.11:g.33182721G>A | TOPMed |
rs1235553581 | p.Glu821Ter | stop gained | - | NC_000010.11:g.33182719C>A | gnomAD |
rs972629078 | p.Ile822Leu | missense variant | - | NC_000010.11:g.33182716T>G | TOPMed |
rs972629078 | p.Ile822Val | missense variant | - | NC_000010.11:g.33182716T>C | TOPMed |
rs201570278 | p.Ile824Thr | missense variant | - | NC_000010.11:g.33182709A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs767480570 | p.Asp825Gly | missense variant | - | NC_000010.11:g.33182706T>C | ExAC,gnomAD |
rs759421479 | p.Thr827Arg | missense variant | - | NC_000010.11:g.33182700G>C | ExAC,gnomAD |
rs750320738 | p.Thr830Met | missense variant | - | NC_000010.11:g.33180359G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs750320738 | p.Thr830Met | missense variant | - | NC_000010.11:g.33180359G>A | ExAC,gnomAD |
rs1257885477 | p.Gly832Glu | missense variant | - | NC_000010.11:g.33180353C>T | TOPMed,gnomAD |
rs936099600 | p.Glu834Asp | missense variant | - | NC_000010.11:g.33180346T>A | gnomAD |
rs150351789 | p.Glu834Ter | stop gained | - | NC_000010.11:g.33180348C>A | ESP,ExAC,TOPMed,gnomAD |
rs150351789 | p.Glu834Lys | missense variant | - | NC_000010.11:g.33180348C>T | ESP,ExAC,TOPMed,gnomAD |
rs760298219 | p.Glu836Lys | missense variant | - | NC_000010.11:g.33180342C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs760298219 | p.Glu836Lys | missense variant | - | NC_000010.11:g.33180342C>T | ExAC,gnomAD |
COSM3437373 | p.Gly837Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33180339C>T | NCI-TCGA Cosmic |
rs774819716 | p.Glu838Lys | missense variant | - | NC_000010.11:g.33180336C>T | ExAC,gnomAD |
rs771196307 | p.Gly839Arg | missense variant | - | NC_000010.11:g.33180333C>G | ExAC,gnomAD |
rs771196307 | p.Gly839Cys | missense variant | - | NC_000010.11:g.33180333C>A | ExAC,gnomAD |
rs1252527101 | p.Asp840Val | missense variant | - | NC_000010.11:g.33180329T>A | TOPMed,gnomAD |
rs540022294 | p.Asp840Asn | missense variant | - | NC_000010.11:g.33180330C>T | 1000Genomes,ExAC,gnomAD |
rs1252527101 | p.Asp840Gly | missense variant | - | NC_000010.11:g.33180329T>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Lys841Thr | missense variant | - | NC_000010.11:g.33180326T>G | NCI-TCGA |
rs770361179 | p.Ile843Val | missense variant | - | NC_000010.11:g.33180321T>C | ExAC,gnomAD |
rs940939644 | p.Ile843Thr | missense variant | - | NC_000010.11:g.33180320A>G | TOPMed,gnomAD |
rs1221143595 | p.Ser844Phe | missense variant | - | NC_000010.11:g.33180317G>A | gnomAD |
NCI-TCGA novel | p.Arg845Lys | missense variant | - | NC_000010.11:g.33180314C>T | NCI-TCGA |
rs781376715 | p.Lys846Met | missense variant | - | NC_000010.11:g.33180311T>A | ExAC,TOPMed,gnomAD |
rs755296281 | p.Lys846Asn | missense variant | - | NC_000010.11:g.33180310C>G | ExAC,gnomAD |
rs568761627 | p.Pro847Ala | missense variant | - | NC_000010.11:g.33180309G>C | TOPMed,gnomAD |
rs774860746 | p.Gly848Asp | missense variant | - | NC_000010.11:g.33180305C>T | ExAC,TOPMed,gnomAD |
rs200321543 | p.Asn849Asp | missense variant | - | NC_000010.11:g.33180303T>C | 1000Genomes |
NCI-TCGA novel | p.Val850Leu | missense variant | - | NC_000010.11:g.33180300C>G | NCI-TCGA |
rs1048803 | p.Asp855Glu | missense variant | - | NC_000010.11:g.33180283G>T | ExAC,gnomAD |
rs761698307 | p.Pro856Thr | missense variant | - | NC_000010.11:g.33180282G>T | ExAC,TOPMed,gnomAD |
rs1454993218 | p.Ile857Val | missense variant | - | NC_000010.11:g.33180279T>C | TOPMed |
rs144845322 | p.Ile857Met | missense variant | - | NC_000010.11:g.33180277G>C | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu858Phe | missense variant | - | NC_000010.11:g.33180276G>A | NCI-TCGA |
rs760388137 | p.Ile859Leu | missense variant | - | NC_000010.11:g.33180273T>G | ExAC,TOPMed,gnomAD |
rs774993945 | p.Thr860Ser | missense variant | - | NC_000010.11:g.33180270T>A | ExAC,gnomAD |
rs767142032 | p.Ile861Val | missense variant | - | NC_000010.11:g.33180267T>C | ExAC,TOPMed,gnomAD |
rs763234318 | p.Ile862Leu | missense variant | - | NC_000010.11:g.33180264T>A | ExAC,TOPMed,gnomAD |
rs763234318 | p.Ile862Val | missense variant | - | NC_000010.11:g.33180264T>C | ExAC,TOPMed,gnomAD |
COSM1474598 | p.Ala863Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33180260G>A | NCI-TCGA Cosmic |
COSM4013893 | p.Ser865Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33180254C>T | NCI-TCGA Cosmic |
rs548175518 | p.Ala866Thr | missense variant | - | NC_000010.11:g.33180252C>T | ExAC,TOPMed,gnomAD |
rs748639459 | p.Ala866Asp | missense variant | - | NC_000010.11:g.33180251G>T | ExAC |
NCI-TCGA novel | p.Leu867Met | missense variant | - | NC_000010.11:g.33180249G>T | NCI-TCGA |
NCI-TCGA novel | p.Val869Leu | missense variant | - | NC_000010.11:g.33180243C>G | NCI-TCGA |
rs1255187775 | p.Val869Ile | missense variant | - | NC_000010.11:g.33180243C>T | gnomAD |
rs768849994 | p.Leu870Phe | missense variant | - | NC_000010.11:g.33180240G>A | ExAC,gnomAD |
rs1310915221 | p.Ala873Thr | missense variant | - | NC_000010.11:g.33180231C>T | gnomAD |
rs567261830 | p.Val874Ile | missense variant | - | NC_000010.11:g.33180228C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs567261830 | p.Val874Leu | missense variant | - | NC_000010.11:g.33180228C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs142822518 | p.Cys875Ser | missense variant | - | NC_000010.11:g.33180224C>G | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Gly876Glu | missense variant | - | NC_000010.11:g.33180221C>T | NCI-TCGA |
rs778630230 | p.Val877Phe | missense variant | - | NC_000010.11:g.33180219C>A | ExAC,TOPMed,gnomAD |
rs778630230 | p.Val877Ile | missense variant | - | NC_000010.11:g.33180219C>T | ExAC,TOPMed,gnomAD |
rs566437913 | p.Val878Ala | missense variant | - | NC_000010.11:g.33180215A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs200330871 | p.Val878Met | missense variant | - | NC_000010.11:g.33180216C>T | ExAC,TOPMed,gnomAD |
rs200330871 | p.Val878Met | missense variant | - | NC_000010.11:g.33180216C>T | NCI-TCGA |
rs551199073 | p.Cys881Tyr | missense variant | - | NC_000010.11:g.33180206C>T | 1000Genomes,ExAC,gnomAD |
rs1239752717 | p.Cys881Arg | missense variant | - | NC_000010.11:g.33180207A>G | TOPMed |
rs1377047297 | p.Ala882Asp | missense variant | - | NC_000010.11:g.33180203G>T | TOPMed,gnomAD |
rs767109785 | p.Cys883Ser | missense variant | - | NC_000010.11:g.33180201A>T | ExAC,gnomAD |
rs1454813225 | p.Trp884Ter | stop gained | - | NC_000010.11:g.33180197C>T | gnomAD |
rs1186925076 | p.His885Arg | missense variant | - | NC_000010.11:g.33180194T>C | gnomAD |
rs1396890390 | p.His885Tyr | missense variant | - | NC_000010.11:g.33180195G>A | gnomAD |
rs143988888 | p.Asn886Thr | missense variant | - | NC_000010.11:g.33180191T>G | ESP,ExAC,TOPMed,gnomAD |
rs532941278 | p.Asn886Lys | missense variant | - | NC_000010.11:g.33180190A>T | 1000Genomes,gnomAD |
rs762474175 | p.Met888Leu | missense variant | - | NC_000010.11:g.33180186T>A | ExAC,gnomAD |
rs1015021561 | p.Ser889Pro | missense variant | - | NC_000010.11:g.33180183A>G | gnomAD |
COSM1347659 | p.Arg891Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000010.11:g.33180176C>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Leu893Phe | missense variant | - | NC_000010.11:g.33180169C>A | NCI-TCGA |
NCI-TCGA novel | p.Ala895Ser | missense variant | - | NC_000010.11:g.33180165C>A | NCI-TCGA |
NCI-TCGA novel | p.Glu897Asp | missense variant | - | NC_000010.11:g.33180157C>A | NCI-TCGA |
rs777261396 | p.Glu897Gln | missense variant | - | NC_000010.11:g.33180159C>G | ExAC,gnomAD |
rs769226149 | p.Tyr899Cys | missense variant | - | NC_000010.11:g.33180152T>C | ExAC,gnomAD |
rs967172509 | p.Leu903Arg | missense variant | - | NC_000010.11:g.33180140A>C | TOPMed |
rs1433057157 | p.Asp905Gly | missense variant | - | NC_000010.11:g.33180134T>C | gnomAD |
rs775598824 | p.Leu909Trp | missense variant | - | NC_000010.11:g.33180122A>C | ExAC,gnomAD |
rs1394130158 | p.Asp912Gly | missense variant | - | NC_000010.11:g.33180113T>C | gnomAD |
rs772205833 | p.Leu914Arg | missense variant | - | NC_000010.11:g.33180107A>C | ExAC,gnomAD |
rs746072156 | p.Asn915Lys | missense variant | - | NC_000010.11:g.33180103A>T | ExAC,TOPMed,gnomAD |
rs1158664603 | p.Gln917His | missense variant | - | NC_000010.11:g.33180097C>G | gnomAD |
rs1158664603 | p.Gln917His | missense variant | - | NC_000010.11:g.33180097C>G | NCI-TCGA Cosmic |
rs778746900 | p.Ser918Arg | missense variant | - | NC_000010.11:g.33180096T>G | ExAC,gnomAD |
rs1265772039 | p.Ser921Ter | stop gained | - | NC_000010.11:g.33180086G>T | TOPMed |
rs749026902 | p.Ala923Ser | missense variant | - | NC_000010.11:g.33180081C>A | ExAC,TOPMed |