Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113118439G>A | CA7060138 | F7 | c.766G>A (p.Gly256Arg) c.832G>A (p.Gly278Arg) c.580G>A (p.Gly194Arg) n.853G>A c.625G>A (p.Gly209Arg) c.874G>A (p.Gly292Arg) c.688G>A (p.Gly230Arg) c.526G>A (p.Gly176Arg) c.835G>A (p.Gly279Arg) c.670G>A (p.Gly224Arg) c.919G>A (p.Gly307Arg) c.733G>A (p.Gly245Arg) n.850G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113118439G>C | CA388785819 | F7 | c.766G>C (p.Gly256Arg) c.832G>C (p.Gly278Arg) c.580G>C (p.Gly194Arg) n.853G>C c.625G>C (p.Gly209Arg) c.874G>C (p.Gly292Arg) c.688G>C (p.Gly230Arg) c.526G>C (p.Gly176Arg) c.835G>C (p.Gly279Arg) c.670G>C (p.Gly224Arg) c.919G>C (p.Gly307Arg) c.733G>C (p.Gly245Arg) n.850G>C | dbSNP |
13 | g.113118439G= | CA2120141732 | F7 | c.766G= (p.Gly256=) c.832G= (p.Gly278=) c.580G= (p.Gly194=) n.853G= c.625G= (p.Gly209=) c.874G= (p.Gly292=) c.688G= (p.Gly230=) c.526G= (p.Gly176=) c.835G= (p.Gly279=) c.670G= (p.Gly224=) c.919G= (p.Gly307=) c.733G= (p.Gly245=) n.850G= | |
13 | g.113118439G>T | CA388785818 | F7 | c.766G>T (p.Gly256Trp) c.832G>T (p.Gly278Trp) c.580G>T (p.Gly194Trp) n.853G>T c.625G>T (p.Gly209Trp) c.874G>T (p.Gly292Trp) c.688G>T (p.Gly230Trp) c.526G>T (p.Gly176Trp) c.835G>T (p.Gly279Trp) c.670G>T (p.Gly224Trp) c.919G>T (p.Gly307Trp) c.733G>T (p.Gly245Trp) n.850G>T | gnomAD v4 |
13 | g.113118440G>A | CA388785820 | F7 | c.767G>A (p.Gly256Glu) c.833G>A (p.Gly278Glu) c.581G>A (p.Gly194Glu) n.854G>A c.626G>A (p.Gly209Glu) c.875G>A (p.Gly292Glu) c.689G>A (p.Gly230Glu) c.527G>A (p.Gly176Glu) c.836G>A (p.Gly279Glu) c.671G>A (p.Gly224Glu) c.920G>A (p.Gly307Glu) c.734G>A (p.Gly245Glu) n.851G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118440G>C | CA388785821 | F7 | c.767G>C (p.Gly256Ala) c.833G>C (p.Gly278Ala) c.581G>C (p.Gly194Ala) n.854G>C c.626G>C (p.Gly209Ala) c.875G>C (p.Gly292Ala) c.689G>C (p.Gly230Ala) c.527G>C (p.Gly176Ala) c.836G>C (p.Gly279Ala) c.671G>C (p.Gly224Ala) c.920G>C (p.Gly307Ala) c.734G>C (p.Gly245Ala) n.851G>C | |
13 | g.113118440G= | CA2120141740 | F7 | c.767G= (p.Gly256=) c.833G= (p.Gly278=) c.581G= (p.Gly194=) n.854G= c.626G= (p.Gly209=) c.875G= (p.Gly292=) c.689G= (p.Gly230=) c.527G= (p.Gly176=) c.836G= (p.Gly279=) c.671G= (p.Gly224=) c.920G= (p.Gly307=) c.734G= (p.Gly245=) n.851G= | |
13 | g.113118440G>T | CA388785822 | F7 | c.767G>T (p.Gly256Val) c.833G>T (p.Gly278Val) c.581G>T (p.Gly194Val) n.854G>T c.626G>T (p.Gly209Val) c.875G>T (p.Gly292Val) c.689G>T (p.Gly230Val) c.527G>T (p.Gly176Val) c.836G>T (p.Gly279Val) c.671G>T (p.Gly224Val) c.920G>T (p.Gly307Val) c.734G>T (p.Gly245Val) n.851G>T | gnomAD v4 |
13 | g.113118441G>A | CA485423823 | F7 | c.768G>A (p.Gly256=) c.834G>A (p.Gly278=) c.582G>A (p.Gly194=) n.855G>A c.627G>A (p.Gly209=) c.876G>A (p.Gly292=) c.690G>A (p.Gly230=) c.528G>A (p.Gly176=) c.837G>A (p.Gly279=) c.672G>A (p.Gly224=) c.921G>A (p.Gly307=) c.735G>A (p.Gly245=) n.852G>A | |
13 | g.113118441G>C | CA485423824 | F7 | c.768G>C (p.Gly256=) c.834G>C (p.Gly278=) c.582G>C (p.Gly194=) n.855G>C c.627G>C (p.Gly209=) c.876G>C (p.Gly292=) c.690G>C (p.Gly230=) c.528G>C (p.Gly176=) c.837G>C (p.Gly279=) c.672G>C (p.Gly224=) c.921G>C (p.Gly307=) c.735G>C (p.Gly245=) n.852G>C | |
13 | g.113118441G= | CA2120141743 | F7 | c.768G= (p.Gly256=) c.834G= (p.Gly278=) c.582G= (p.Gly194=) n.855G= c.627G= (p.Gly209=) c.876G= (p.Gly292=) c.690G= (p.Gly230=) c.528G= (p.Gly176=) c.837G= (p.Gly279=) c.672G= (p.Gly224=) c.921G= (p.Gly307=) c.735G= (p.Gly245=) n.852G= | |
13 | g.113118441G>T | CA485423825 | F7 | c.768G>T (p.Gly256=) c.834G>T (p.Gly278=) c.582G>T (p.Gly194=) n.855G>T c.627G>T (p.Gly209=) c.876G>T (p.Gly292=) c.690G>T (p.Gly230=) c.528G>T (p.Gly176=) c.837G>T (p.Gly279=) c.672G>T (p.Gly224=) c.921G>T (p.Gly307=) c.735G>T (p.Gly245=) n.852G>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118442G>A | CA388785823 | F7 | c.769G>A (p.Asp257Asn) c.835G>A (p.Asp279Asn) c.583G>A (p.Asp195Asn) n.856G>A c.628G>A (p.Asp210Asn) c.877G>A (p.Asp293Asn) c.691G>A (p.Asp231Asn) c.529G>A (p.Asp177Asn) c.838G>A (p.Asp280Asn) c.673G>A (p.Asp225Asn) c.922G>A (p.Asp308Asn) c.736G>A (p.Asp246Asn) n.853G>A | |
13 | g.113118442G>C | CA388785824 | F7 | c.769G>C (p.Asp257His) c.835G>C (p.Asp279His) c.583G>C (p.Asp195His) n.856G>C c.628G>C (p.Asp210His) c.877G>C (p.Asp293His) c.691G>C (p.Asp231His) c.529G>C (p.Asp177His) c.838G>C (p.Asp280His) c.673G>C (p.Asp225His) c.922G>C (p.Asp308His) c.736G>C (p.Asp246His) n.853G>C | |
13 | g.113118442G= | CA2120141752 | F7 | c.769G= (p.Asp257=) c.835G= (p.Asp279=) c.583G= (p.Asp195=) n.856G= c.628G= (p.Asp210=) c.877G= (p.Asp293=) c.691G= (p.Asp231=) c.529G= (p.Asp177=) c.838G= (p.Asp280=) c.673G= (p.Asp225=) c.922G= (p.Asp308=) c.736G= (p.Asp246=) n.853G= | |
13 | g.113118442G>T | CA388785825 | F7 | c.769G>T (p.Asp257Tyr) c.835G>T (p.Asp279Tyr) c.583G>T (p.Asp195Tyr) n.856G>T c.628G>T (p.Asp210Tyr) c.877G>T (p.Asp293Tyr) c.691G>T (p.Asp231Tyr) c.529G>T (p.Asp177Tyr) c.838G>T (p.Asp280Tyr) c.673G>T (p.Asp225Tyr) c.922G>T (p.Asp308Tyr) c.736G>T (p.Asp246Tyr) n.853G>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118443A>C | CA388785826 | F7 | c.770A>C (p.Asp257Ala) c.836A>C (p.Asp279Ala) c.584A>C (p.Asp195Ala) n.857A>C c.629A>C (p.Asp210Ala) c.878A>C (p.Asp293Ala) c.692A>C (p.Asp231Ala) c.530A>C (p.Asp177Ala) c.839A>C (p.Asp280Ala) c.674A>C (p.Asp225Ala) c.923A>C (p.Asp308Ala) c.737A>C (p.Asp246Ala) n.854A>C | |
13 | g.113118443A>G | CA388785827 | F7 | c.770A>G (p.Asp257Gly) c.836A>G (p.Asp279Gly) c.584A>G (p.Asp195Gly) n.857A>G c.629A>G (p.Asp210Gly) c.878A>G (p.Asp293Gly) c.692A>G (p.Asp231Gly) c.530A>G (p.Asp177Gly) c.839A>G (p.Asp280Gly) c.674A>G (p.Asp225Gly) c.923A>G (p.Asp308Gly) c.737A>G (p.Asp246Gly) n.854A>G | gnomAD v4 |
13 | g.113118443A>T | CA388785828 | F7 | c.770A>T (p.Asp257Val) c.836A>T (p.Asp279Val) c.584A>T (p.Asp195Val) n.857A>T c.629A>T (p.Asp210Val) c.878A>T (p.Asp293Val) c.692A>T (p.Asp231Val) c.530A>T (p.Asp177Val) c.839A>T (p.Asp280Val) c.674A>T (p.Asp225Val) c.923A>T (p.Asp308Val) c.737A>T (p.Asp246Val) n.854A>T | |
13 | g.113118444T>A | CA388785829 | F7 | c.771T>A (p.Asp257Glu) c.837T>A (p.Asp279Glu) c.585T>A (p.Asp195Glu) n.858T>A c.630T>A (p.Asp210Glu) c.879T>A (p.Asp293Glu) c.693T>A (p.Asp231Glu) c.531T>A (p.Asp177Glu) c.840T>A (p.Asp280Glu) c.675T>A (p.Asp225Glu) c.924T>A (p.Asp308Glu) c.738T>A (p.Asp246Glu) n.855T>A | gnomAD v4 |
13 | g.113118444T>C | CA485423826 | F7 | c.771T>C (p.Asp257=) c.837T>C (p.Asp279=) c.585T>C (p.Asp195=) n.858T>C c.630T>C (p.Asp210=) c.879T>C (p.Asp293=) c.693T>C (p.Asp231=) c.531T>C (p.Asp177=) c.840T>C (p.Asp280=) c.675T>C (p.Asp225=) c.924T>C (p.Asp308=) c.738T>C (p.Asp246=) n.855T>C | dbSNP gnomAD v4 |
13 | g.113118444T>G | CA388785830 | F7 | c.771T>G (p.Asp257Glu) c.837T>G (p.Asp279Glu) c.585T>G (p.Asp195Glu) n.858T>G c.630T>G (p.Asp210Glu) c.879T>G (p.Asp293Glu) c.693T>G (p.Asp231Glu) c.531T>G (p.Asp177Glu) c.840T>G (p.Asp280Glu) c.675T>G (p.Asp225Glu) c.924T>G (p.Asp308Glu) c.738T>G (p.Asp246Glu) n.855T>G | |
13 | g.113118445G>A | CA388785833 | F7 | c.772G>A (p.Glu258Lys) c.838G>A (p.Glu280Lys) c.586G>A (p.Glu196Lys) n.859G>A c.631G>A (p.Glu211Lys) c.880G>A (p.Glu294Lys) c.694G>A (p.Glu232Lys) c.532G>A (p.Glu178Lys) c.841G>A (p.Glu281Lys) c.676G>A (p.Glu226Lys) c.925G>A (p.Glu309Lys) c.739G>A (p.Glu247Lys) n.856G>A | dbSNP |
13 | g.113118445G>C | CA388785832 | F7 | c.772G>C (p.Glu258Gln) c.838G>C (p.Glu280Gln) c.586G>C (p.Glu196Gln) n.859G>C c.631G>C (p.Glu211Gln) c.880G>C (p.Glu294Gln) c.694G>C (p.Glu232Gln) c.532G>C (p.Glu178Gln) c.841G>C (p.Glu281Gln) c.676G>C (p.Glu226Gln) c.925G>C (p.Glu309Gln) c.739G>C (p.Glu247Gln) n.856G>C | |
13 | g.113118445G>T | CA388785831 | F7 | c.772G>T (p.Glu258Ter) c.838G>T (p.Glu280Ter) c.586G>T (p.Glu196Ter) n.859G>T c.631G>T (p.Glu211Ter) c.880G>T (p.Glu294Ter) c.694G>T (p.Glu232Ter) c.532G>T (p.Glu178Ter) c.841G>T (p.Glu281Ter) c.676G>T (p.Glu226Ter) c.925G>T (p.Glu309Ter) c.739G>T (p.Glu247Ter) n.856G>T | gnomAD v4 |
13 | g.113118446A= | CA2120141759 | F7 | c.773A= (p.Glu258=) c.839A= (p.Glu280=) c.587A= (p.Glu196=) n.860A= c.632A= (p.Glu211=) c.881A= (p.Glu294=) c.695A= (p.Glu232=) c.533A= (p.Glu178=) c.842A= (p.Glu281=) c.677A= (p.Glu226=) c.926A= (p.Glu309=) c.740A= (p.Glu247=) n.857A= | |
13 | g.113118446A>C | CA256461458 | F7 | c.773A>C (p.Glu258Ala) c.839A>C (p.Glu280Ala) c.587A>C (p.Glu196Ala) n.860A>C c.632A>C (p.Glu211Ala) c.881A>C (p.Glu294Ala) c.695A>C (p.Glu232Ala) c.533A>C (p.Glu178Ala) c.842A>C (p.Glu281Ala) c.677A>C (p.Glu226Ala) c.926A>C (p.Glu309Ala) c.740A>C (p.Glu247Ala) n.857A>C | dbSNP |
13 | g.113118446A>G | CA388785835 | F7 | c.773A>G (p.Glu258Gly) c.839A>G (p.Glu280Gly) c.587A>G (p.Glu196Gly) n.860A>G c.632A>G (p.Glu211Gly) c.881A>G (p.Glu294Gly) c.695A>G (p.Glu232Gly) c.533A>G (p.Glu178Gly) c.842A>G (p.Glu281Gly) c.677A>G (p.Glu226Gly) c.926A>G (p.Glu309Gly) c.740A>G (p.Glu247Gly) n.857A>G | |
13 | g.113118446A>T | CA388785834 | F7 | c.773A>T (p.Glu258Val) c.839A>T (p.Glu280Val) c.587A>T (p.Glu196Val) n.860A>T c.632A>T (p.Glu211Val) c.881A>T (p.Glu294Val) c.695A>T (p.Glu232Val) c.533A>T (p.Glu178Val) c.842A>T (p.Glu281Val) c.677A>T (p.Glu226Val) c.926A>T (p.Glu309Val) c.740A>T (p.Glu247Val) n.857A>T | |
13 | g.113118447G>A | CA7060139 | F7 | c.774G>A (p.Glu258=) c.840G>A (p.Glu280=) c.588G>A (p.Glu196=) n.861G>A c.633G>A (p.Glu211=) c.882G>A (p.Glu294=) c.696G>A (p.Glu232=) c.534G>A (p.Glu178=) c.843G>A (p.Glu281=) c.678G>A (p.Glu226=) c.927G>A (p.Glu309=) c.741G>A (p.Glu247=) n.858G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118447G>C | CA388785837 | F7 | c.774G>C (p.Glu258Asp) c.840G>C (p.Glu280Asp) c.588G>C (p.Glu196Asp) n.861G>C c.633G>C (p.Glu211Asp) c.882G>C (p.Glu294Asp) c.696G>C (p.Glu232Asp) c.534G>C (p.Glu178Asp) c.843G>C (p.Glu281Asp) c.678G>C (p.Glu226Asp) c.927G>C (p.Glu309Asp) c.741G>C (p.Glu247Asp) n.858G>C | |
13 | g.113118447G= | CA2120141766 | F7 | c.774G= (p.Glu258=) c.840G= (p.Glu280=) c.588G= (p.Glu196=) n.861G= c.633G= (p.Glu211=) c.882G= (p.Glu294=) c.696G= (p.Glu232=) c.534G= (p.Glu178=) c.843G= (p.Glu281=) c.678G= (p.Glu226=) c.927G= (p.Glu309=) c.741G= (p.Glu247=) n.858G= | |
13 | g.113118447G>T | CA388785836 | F7 | c.774G>T (p.Glu258Asp) c.840G>T (p.Glu280Asp) c.588G>T (p.Glu196Asp) n.861G>T c.633G>T (p.Glu211Asp) c.882G>T (p.Glu294Asp) c.696G>T (p.Glu232Asp) c.534G>T (p.Glu178Asp) c.843G>T (p.Glu281Asp) c.678G>T (p.Glu226Asp) c.927G>T (p.Glu309Asp) c.741G>T (p.Glu247Asp) n.858G>T | |
13 | g.113118448C>A | CA388785838 | F7 | c.775C>A (p.Gln259Lys) c.841C>A (p.Gln281Lys) c.589C>A (p.Gln197Lys) n.862C>A c.634C>A (p.Gln212Lys) c.883C>A (p.Gln295Lys) c.697C>A (p.Gln233Lys) c.535C>A (p.Gln179Lys) c.844C>A (p.Gln282Lys) c.679C>A (p.Gln227Lys) c.928C>A (p.Gln310Lys) c.742C>A (p.Gln248Lys) n.859C>A | gnomAD v4 |
13 | g.113118448C>G | CA388785840 | F7 | c.775C>G (p.Gln259Glu) c.841C>G (p.Gln281Glu) c.589C>G (p.Gln197Glu) n.862C>G c.634C>G (p.Gln212Glu) c.883C>G (p.Gln295Glu) c.697C>G (p.Gln233Glu) c.535C>G (p.Gln179Glu) c.844C>G (p.Gln282Glu) c.679C>G (p.Gln227Glu) c.928C>G (p.Gln310Glu) c.742C>G (p.Gln248Glu) n.859C>G | |
13 | g.113118448C>T | CA388785839 | F7 | c.775C>T (p.Gln259Ter) c.841C>T (p.Gln281Ter) c.589C>T (p.Gln197Ter) n.862C>T c.634C>T (p.Gln212Ter) c.883C>T (p.Gln295Ter) c.697C>T (p.Gln233Ter) c.535C>T (p.Gln179Ter) c.844C>T (p.Gln282Ter) c.679C>T (p.Gln227Ter) c.928C>T (p.Gln310Ter) c.742C>T (p.Gln248Ter) n.859C>T | dbSNP gnomAD v4 |
13 | g.113118451_113118482del | CA2623808918 | F7 | c.778_809del (p.Ser260HisfsTer24) c.844_875del (p.Ser282HisfsTer24) c.592_623del (p.Ser198HisfsTer24) n.865_896del c.637_668del (p.Ser213HisfsTer24) c.886_917del (p.Ser296HisfsTer24) c.700_731del (p.Ser234HisfsTer24) c.538_569del (p.Ser180HisfsTer24) c.847_878del (p.Ser283HisfsTer24) c.682_713del (p.Ser228HisfsTer24) c.931_962del (p.Ser311HisfsTer24) c.745_776del (p.Ser249HisfsTer24) n.862_893del | gnomAD v4 |
13 | g.113118449A>C | CA388785841 | F7 | c.776A>C (p.Gln259Pro) c.842A>C (p.Gln281Pro) c.590A>C (p.Gln197Pro) n.863A>C c.635A>C (p.Gln212Pro) c.884A>C (p.Gln295Pro) c.698A>C (p.Gln233Pro) c.536A>C (p.Gln179Pro) c.845A>C (p.Gln282Pro) c.680A>C (p.Gln227Pro) c.929A>C (p.Gln310Pro) c.743A>C (p.Gln248Pro) n.860A>C | |
13 | g.113118449A>G | CA388785842 | F7 | c.776A>G (p.Gln259Arg) c.842A>G (p.Gln281Arg) c.590A>G (p.Gln197Arg) n.863A>G c.635A>G (p.Gln212Arg) c.884A>G (p.Gln295Arg) c.698A>G (p.Gln233Arg) c.536A>G (p.Gln179Arg) c.845A>G (p.Gln282Arg) c.680A>G (p.Gln227Arg) c.929A>G (p.Gln310Arg) c.743A>G (p.Gln248Arg) n.860A>G | |
13 | g.113118449A>T | CA388785843 | F7 | c.776A>T (p.Gln259Leu) c.842A>T (p.Gln281Leu) c.590A>T (p.Gln197Leu) n.863A>T c.635A>T (p.Gln212Leu) c.884A>T (p.Gln295Leu) c.698A>T (p.Gln233Leu) c.536A>T (p.Gln179Leu) c.845A>T (p.Gln282Leu) c.680A>T (p.Gln227Leu) c.929A>T (p.Gln310Leu) c.743A>T (p.Gln248Leu) n.860A>T | |
13 | g.113118450G>A | CA485423827 | F7 | c.777G>A (p.Gln259=) c.843G>A (p.Gln281=) c.591G>A (p.Gln197=) n.864G>A c.636G>A (p.Gln212=) c.885G>A (p.Gln295=) c.699G>A (p.Gln233=) c.537G>A (p.Gln179=) c.846G>A (p.Gln282=) c.681G>A (p.Gln227=) c.930G>A (p.Gln310=) c.744G>A (p.Gln248=) n.861G>A | COSMIC COSMIC |
13 | g.113118450G>C | CA388785844 | F7 | c.777G>C (p.Gln259His) c.843G>C (p.Gln281His) c.591G>C (p.Gln197His) n.864G>C c.636G>C (p.Gln212His) c.885G>C (p.Gln295His) c.699G>C (p.Gln233His) c.537G>C (p.Gln179His) c.846G>C (p.Gln282His) c.681G>C (p.Gln227His) c.930G>C (p.Gln310His) c.744G>C (p.Gln248His) n.861G>C | gnomAD v4 |
13 | g.113118450G>T | CA388785845 | F7 | c.777G>T (p.Gln259His) c.843G>T (p.Gln281His) c.591G>T (p.Gln197His) n.864G>T c.636G>T (p.Gln212His) c.885G>T (p.Gln295His) c.699G>T (p.Gln233His) c.537G>T (p.Gln179His) c.846G>T (p.Gln282His) c.681G>T (p.Gln227His) c.930G>T (p.Gln310His) c.744G>T (p.Gln248His) n.861G>T | gnomAD v4 |
13 | g.113118451A>C | CA388785846 | F7 | c.778A>C (p.Ser260Arg) c.844A>C (p.Ser282Arg) c.592A>C (p.Ser198Arg) n.865A>C c.637A>C (p.Ser213Arg) c.886A>C (p.Ser296Arg) c.700A>C (p.Ser234Arg) c.538A>C (p.Ser180Arg) c.847A>C (p.Ser283Arg) c.682A>C (p.Ser228Arg) c.931A>C (p.Ser311Arg) c.745A>C (p.Ser249Arg) n.862A>C | |
13 | g.113118451A>G | CA388785847 | F7 | c.778A>G (p.Ser260Gly) c.844A>G (p.Ser282Gly) c.592A>G (p.Ser198Gly) n.865A>G c.637A>G (p.Ser213Gly) c.886A>G (p.Ser296Gly) c.700A>G (p.Ser234Gly) c.538A>G (p.Ser180Gly) c.847A>G (p.Ser283Gly) c.682A>G (p.Ser228Gly) c.931A>G (p.Ser311Gly) c.745A>G (p.Ser249Gly) n.862A>G | |
13 | g.113118451A>T | CA388785848 | F7 | c.778A>T (p.Ser260Cys) c.844A>T (p.Ser282Cys) c.592A>T (p.Ser198Cys) n.865A>T c.637A>T (p.Ser213Cys) c.886A>T (p.Ser296Cys) c.700A>T (p.Ser234Cys) c.538A>T (p.Ser180Cys) c.847A>T (p.Ser283Cys) c.682A>T (p.Ser228Cys) c.931A>T (p.Ser311Cys) c.745A>T (p.Ser249Cys) n.862A>T | |
13 | g.113118452G>A | CA388785849 | F7 | c.779G>A (p.Ser260Asn) c.845G>A (p.Ser282Asn) c.593G>A (p.Ser198Asn) n.866G>A c.638G>A (p.Ser213Asn) c.887G>A (p.Ser296Asn) c.701G>A (p.Ser234Asn) c.539G>A (p.Ser180Asn) c.848G>A (p.Ser283Asn) c.683G>A (p.Ser228Asn) c.932G>A (p.Ser311Asn) c.746G>A (p.Ser249Asn) n.863G>A | gnomAD v4 |
13 | g.113118452G>C | CA388785850 | F7 | c.779G>C (p.Ser260Thr) c.845G>C (p.Ser282Thr) c.593G>C (p.Ser198Thr) n.866G>C c.638G>C (p.Ser213Thr) c.887G>C (p.Ser296Thr) c.701G>C (p.Ser234Thr) c.539G>C (p.Ser180Thr) c.848G>C (p.Ser283Thr) c.683G>C (p.Ser228Thr) c.932G>C (p.Ser311Thr) c.746G>C (p.Ser249Thr) n.863G>C | |
13 | g.113118452G>T | CA388785851 | F7 | c.779G>T (p.Ser260Ile) c.845G>T (p.Ser282Ile) c.593G>T (p.Ser198Ile) n.866G>T c.638G>T (p.Ser213Ile) c.887G>T (p.Ser296Ile) c.701G>T (p.Ser234Ile) c.539G>T (p.Ser180Ile) c.848G>T (p.Ser283Ile) c.683G>T (p.Ser228Ile) c.932G>T (p.Ser311Ile) c.746G>T (p.Ser249Ile) n.863G>T | gnomAD v4 |
13 | g.113118453C>A | CA388785853 | F7 | c.780C>A (p.Ser260Arg) c.846C>A (p.Ser282Arg) c.594C>A (p.Ser198Arg) n.867C>A c.639C>A (p.Ser213Arg) c.888C>A (p.Ser296Arg) c.702C>A (p.Ser234Arg) c.540C>A (p.Ser180Arg) c.849C>A (p.Ser283Arg) c.684C>A (p.Ser228Arg) c.933C>A (p.Ser311Arg) c.747C>A (p.Ser249Arg) n.864C>A | dbSNP gnomAD v4 |
13 | g.113118453C= | CA2120141774 | F7 | c.780C= (p.Ser260=) c.846C= (p.Ser282=) c.594C= (p.Ser198=) n.867C= c.639C= (p.Ser213=) c.888C= (p.Ser296=) c.702C= (p.Ser234=) c.540C= (p.Ser180=) c.849C= (p.Ser283=) c.684C= (p.Ser228=) c.933C= (p.Ser311=) c.747C= (p.Ser249=) n.864C= | |
13 | g.113118453C>G | CA388785852 | F7 | c.780C>G (p.Ser260Arg) c.846C>G (p.Ser282Arg) c.594C>G (p.Ser198Arg) n.867C>G c.639C>G (p.Ser213Arg) c.888C>G (p.Ser296Arg) c.702C>G (p.Ser234Arg) c.540C>G (p.Ser180Arg) c.849C>G (p.Ser283Arg) c.684C>G (p.Ser228Arg) c.933C>G (p.Ser311Arg) c.747C>G (p.Ser249Arg) n.864C>G | |
13 | g.113118453C>T | CA485423828 | F7 | c.780C>T (p.Ser260=) c.846C>T (p.Ser282=) c.594C>T (p.Ser198=) n.867C>T c.639C>T (p.Ser213=) c.888C>T (p.Ser296=) c.702C>T (p.Ser234=) c.540C>T (p.Ser180=) c.849C>T (p.Ser283=) c.684C>T (p.Ser228=) c.933C>T (p.Ser311=) c.747C>T (p.Ser249=) n.864C>T | dbSNP gnomAD v2 |
13 | g.113118454C>A | CA485423829 | F7 | c.781C>A (p.Arg261=) c.847C>A (p.Arg283=) c.595C>A (p.Arg199=) n.868C>A c.640C>A (p.Arg214=) c.889C>A (p.Arg297=) c.703C>A (p.Arg235=) c.541C>A (p.Arg181=) c.850C>A (p.Arg284=) c.685C>A (p.Arg229=) c.934C>A (p.Arg312=) c.748C>A (p.Arg250=) n.865C>A | gnomAD v4 |
13 | g.113118454C= | CA2120141780 | F7 | c.781C= (p.Arg261=) c.847C= (p.Arg283=) c.595C= (p.Arg199=) n.868C= c.640C= (p.Arg214=) c.889C= (p.Arg297=) c.703C= (p.Arg235=) c.541C= (p.Arg181=) c.850C= (p.Arg284=) c.685C= (p.Arg229=) c.934C= (p.Arg312=) c.748C= (p.Arg250=) n.865C= | |
13 | g.113118454C>G | CA388785854 | F7 | c.781C>G (p.Arg261Gly) c.847C>G (p.Arg283Gly) c.595C>G (p.Arg199Gly) n.868C>G c.640C>G (p.Arg214Gly) c.889C>G (p.Arg297Gly) c.703C>G (p.Arg235Gly) c.541C>G (p.Arg181Gly) c.850C>G (p.Arg284Gly) c.685C>G (p.Arg229Gly) c.934C>G (p.Arg312Gly) c.748C>G (p.Arg250Gly) n.865C>G | |
13 | g.113118454C>T | CA7060140 | F7 | c.781C>T (p.Arg261Trp) c.847C>T (p.Arg283Trp) c.595C>T (p.Arg199Trp) n.868C>T c.640C>T (p.Arg214Trp) c.889C>T (p.Arg297Trp) c.703C>T (p.Arg235Trp) c.541C>T (p.Arg181Trp) c.850C>T (p.Arg284Trp) c.685C>T (p.Arg229Trp) c.934C>T (p.Arg312Trp) c.748C>T (p.Arg250Trp) n.865C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118455G>A | CA7060141 | F7 | c.782G>A (p.Arg261Gln) c.848G>A (p.Arg283Gln) c.596G>A (p.Arg199Gln) n.869G>A c.641G>A (p.Arg214Gln) c.890G>A (p.Arg297Gln) c.704G>A (p.Arg235Gln) c.542G>A (p.Arg181Gln) c.851G>A (p.Arg284Gln) c.686G>A (p.Arg229Gln) c.935G>A (p.Arg312Gln) c.749G>A (p.Arg250Gln) n.866G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118455G>C | CA388785855 | F7 | c.782G>C (p.Arg261Pro) c.848G>C (p.Arg283Pro) c.596G>C (p.Arg199Pro) n.869G>C c.641G>C (p.Arg214Pro) c.890G>C (p.Arg297Pro) c.704G>C (p.Arg235Pro) c.542G>C (p.Arg181Pro) c.851G>C (p.Arg284Pro) c.686G>C (p.Arg229Pro) c.935G>C (p.Arg312Pro) c.749G>C (p.Arg250Pro) n.866G>C | |
13 | g.113118455G= | CA2120141797 | F7 | c.782G= (p.Arg261=) c.848G= (p.Arg283=) c.596G= (p.Arg199=) n.869G= c.641G= (p.Arg214=) c.890G= (p.Arg297=) c.704G= (p.Arg235=) c.542G= (p.Arg181=) c.851G= (p.Arg284=) c.686G= (p.Arg229=) c.935G= (p.Arg312=) c.749G= (p.Arg250=) n.866G= | |
13 | g.113118455G>T | CA7060142 | F7 | c.782G>T (p.Arg261Leu) c.848G>T (p.Arg283Leu) c.596G>T (p.Arg199Leu) n.869G>T c.641G>T (p.Arg214Leu) c.890G>T (p.Arg297Leu) c.704G>T (p.Arg235Leu) c.542G>T (p.Arg181Leu) c.851G>T (p.Arg284Leu) c.686G>T (p.Arg229Leu) c.935G>T (p.Arg312Leu) c.749G>T (p.Arg250Leu) n.866G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118455_113118472delinsGGCGGGTGGCGCAGGTCA | CA2120141792 | F7 | c.782_799delinsGGCGGGTGGCGCAGGTCA (p.Arg261=) c.848_865delinsGGCGGGTGGCGCAGGTCA (p.Arg283=) c.596_613delinsGGCGGGTGGCGCAGGTCA (p.Arg199=) n.869_886delinsGGCGGGTGGCGCAGGTCA c.641_658delinsGGCGGGTGGCGCAGGTCA (p.Arg214=) c.890_907delinsGGCGGGTGGCGCAGGTCA (p.Arg297=) c.704_721delinsGGCGGGTGGCGCAGGTCA (p.Arg235=) c.542_559delinsGGCGGGTGGCGCAGGTCA (p.Arg181=) c.851_868delinsGGCGGGTGGCGCAGGTCA (p.Arg284=) c.686_703delinsGGCGGGTGGCGCAGGTCA (p.Arg229=) c.935_952delinsGGCGGGTGGCGCAGGTCA (p.Arg312=) c.749_766delinsGGCGGGTGGCGCAGGTCA (p.Arg250=) n.866_883delinsGGCGGGTGGCGCAGGTCA | |
13 | g.113118456G>A | CA7060143 | F7 | c.783G>A (p.Arg261=) c.849G>A (p.Arg283=) c.597G>A (p.Arg199=) n.870G>A c.642G>A (p.Arg214=) c.891G>A (p.Arg297=) c.705G>A (p.Arg235=) c.543G>A (p.Arg181=) c.852G>A (p.Arg284=) c.687G>A (p.Arg229=) c.936G>A (p.Arg312=) c.750G>A (p.Arg250=) n.867G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118456G>C | CA485423831 | F7 | c.783G>C (p.Arg261=) c.849G>C (p.Arg283=) c.597G>C (p.Arg199=) n.870G>C c.642G>C (p.Arg214=) c.891G>C (p.Arg297=) c.705G>C (p.Arg235=) c.543G>C (p.Arg181=) c.852G>C (p.Arg284=) c.687G>C (p.Arg229=) c.936G>C (p.Arg312=) c.750G>C (p.Arg250=) n.867G>C | |
13 | g.113118456G= | CA2120141811 | F7 | c.783G= (p.Arg261=) c.849G= (p.Arg283=) c.597G= (p.Arg199=) n.870G= c.642G= (p.Arg214=) c.891G= (p.Arg297=) c.705G= (p.Arg235=) c.543G= (p.Arg181=) c.852G= (p.Arg284=) c.687G= (p.Arg229=) c.936G= (p.Arg312=) c.750G= (p.Arg250=) n.867G= | |
13 | g.113118456G>T | CA485423830 | F7 | c.783G>T (p.Arg261=) c.849G>T (p.Arg283=) c.597G>T (p.Arg199=) n.870G>T c.642G>T (p.Arg214=) c.891G>T (p.Arg297=) c.705G>T (p.Arg235=) c.543G>T (p.Arg181=) c.852G>T (p.Arg284=) c.687G>T (p.Arg229=) c.936G>T (p.Arg312=) c.750G>T (p.Arg250=) n.867G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118456_113118472del | CA121854 | F7 | c.783_799del (p.Arg262HisfsTer27) c.849_865del (p.Arg284HisfsTer27) c.597_613del (p.Arg200HisfsTer27) n.870_886del c.642_658del (p.Arg215HisfsTer27) c.891_907del (p.Arg298HisfsTer27) c.705_721del (p.Arg236HisfsTer27) c.543_559del (p.Arg182HisfsTer27) c.852_868del (p.Arg285HisfsTer27) c.687_703del (p.Arg230HisfsTer27) c.936_952del (p.Arg313HisfsTer27) c.750_766del (p.Arg251HisfsTer27) n.867_883del | ClinVar dbSNP |
13 | g.113118457C>A | CA485423832 | F7 | c.784C>A (p.Arg262=) c.850C>A (p.Arg284=) c.598C>A (p.Arg200=) n.871C>A c.643C>A (p.Arg215=) c.892C>A (p.Arg298=) c.706C>A (p.Arg236=) c.544C>A (p.Arg182=) c.853C>A (p.Arg285=) c.688C>A (p.Arg230=) c.937C>A (p.Arg313=) c.751C>A (p.Arg251=) n.868C>A | gnomAD v4 |
13 | g.113118457C= | CA2120141818 | F7 | c.784C= (p.Arg262=) c.850C= (p.Arg284=) c.598C= (p.Arg200=) n.871C= c.643C= (p.Arg215=) c.892C= (p.Arg298=) c.706C= (p.Arg236=) c.544C= (p.Arg182=) c.853C= (p.Arg285=) c.688C= (p.Arg230=) c.937C= (p.Arg313=) c.751C= (p.Arg251=) n.868C= | |
13 | g.113118457C>G | CA388785856 | F7 | c.784C>G (p.Arg262Gly) c.850C>G (p.Arg284Gly) c.598C>G (p.Arg200Gly) n.871C>G c.643C>G (p.Arg215Gly) c.892C>G (p.Arg298Gly) c.706C>G (p.Arg236Gly) c.544C>G (p.Arg182Gly) c.853C>G (p.Arg285Gly) c.688C>G (p.Arg230Gly) c.937C>G (p.Arg313Gly) c.751C>G (p.Arg251Gly) n.868C>G | |
13 | g.113118457C>T | CA7060144 | F7 | c.784C>T (p.Arg262Trp) c.850C>T (p.Arg284Trp) c.598C>T (p.Arg200Trp) n.871C>T c.643C>T (p.Arg215Trp) c.892C>T (p.Arg298Trp) c.706C>T (p.Arg236Trp) c.544C>T (p.Arg182Trp) c.853C>T (p.Arg285Trp) c.688C>T (p.Arg230Trp) c.937C>T (p.Arg313Trp) c.751C>T (p.Arg251Trp) n.868C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118458G>A | CA7060145 | F7 | c.785G>A (p.Arg262Gln) c.851G>A (p.Arg284Gln) c.599G>A (p.Arg200Gln) n.872G>A c.644G>A (p.Arg215Gln) c.893G>A (p.Arg298Gln) c.707G>A (p.Arg236Gln) c.545G>A (p.Arg182Gln) c.854G>A (p.Arg285Gln) c.689G>A (p.Arg230Gln) c.938G>A (p.Arg313Gln) c.752G>A (p.Arg251Gln) n.869G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118458G>C | CA388785857 | F7 | c.785G>C (p.Arg262Pro) c.851G>C (p.Arg284Pro) c.599G>C (p.Arg200Pro) n.872G>C c.644G>C (p.Arg215Pro) c.893G>C (p.Arg298Pro) c.707G>C (p.Arg236Pro) c.545G>C (p.Arg182Pro) c.854G>C (p.Arg285Pro) c.689G>C (p.Arg230Pro) c.938G>C (p.Arg313Pro) c.752G>C (p.Arg251Pro) n.869G>C | gnomAD v4 |
13 | g.113118458G= | CA2120141824 | F7 | c.785G= (p.Arg262=) c.851G= (p.Arg284=) c.599G= (p.Arg200=) n.872G= c.644G= (p.Arg215=) c.893G= (p.Arg298=) c.707G= (p.Arg236=) c.545G= (p.Arg182=) c.854G= (p.Arg285=) c.689G= (p.Arg230=) c.938G= (p.Arg313=) c.752G= (p.Arg251=) n.869G= | |
13 | g.113118458G>T | CA388785858 | F7 | c.785G>T (p.Arg262Leu) c.851G>T (p.Arg284Leu) c.599G>T (p.Arg200Leu) n.872G>T c.644G>T (p.Arg215Leu) c.893G>T (p.Arg298Leu) c.707G>T (p.Arg236Leu) c.545G>T (p.Arg182Leu) c.854G>T (p.Arg285Leu) c.689G>T (p.Arg230Leu) c.938G>T (p.Arg313Leu) c.752G>T (p.Arg251Leu) n.869G>T | gnomAD v4 COSMIC |
13 | g.113118459G>A | CA485423833 | F7 | c.786G>A (p.Arg262=) c.852G>A (p.Arg284=) c.600G>A (p.Arg200=) n.873G>A c.645G>A (p.Arg215=) c.894G>A (p.Arg298=) c.708G>A (p.Arg236=) c.546G>A (p.Arg182=) c.855G>A (p.Arg285=) c.690G>A (p.Arg230=) c.939G>A (p.Arg313=) c.753G>A (p.Arg251=) n.870G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118459G>C | CA485423834 | F7 | c.786G>C (p.Arg262=) c.852G>C (p.Arg284=) c.600G>C (p.Arg200=) n.873G>C c.645G>C (p.Arg215=) c.894G>C (p.Arg298=) c.708G>C (p.Arg236=) c.546G>C (p.Arg182=) c.855G>C (p.Arg285=) c.690G>C (p.Arg230=) c.939G>C (p.Arg313=) c.753G>C (p.Arg251=) n.870G>C | |
13 | g.113118459G= | CA2120141834 | F7 | c.786G= (p.Arg262=) c.852G= (p.Arg284=) c.600G= (p.Arg200=) n.873G= c.645G= (p.Arg215=) c.894G= (p.Arg298=) c.708G= (p.Arg236=) c.546G= (p.Arg182=) c.855G= (p.Arg285=) c.690G= (p.Arg230=) c.939G= (p.Arg313=) c.753G= (p.Arg251=) n.870G= | |
13 | g.113118459G>T | CA485423835 | F7 | c.786G>T (p.Arg262=) c.852G>T (p.Arg284=) c.600G>T (p.Arg200=) n.873G>T c.645G>T (p.Arg215=) c.894G>T (p.Arg298=) c.708G>T (p.Arg236=) c.546G>T (p.Arg182=) c.855G>T (p.Arg285=) c.690G>T (p.Arg230=) c.939G>T (p.Arg313=) c.753G>T (p.Arg251=) n.870G>T | gnomAD v4 |
13 | g.113118460G>A | CA388785861 | F7 | c.787G>A (p.Val263Met) c.853G>A (p.Val285Met) c.601G>A (p.Val201Met) n.874G>A c.646G>A (p.Val216Met) c.895G>A (p.Val299Met) c.709G>A (p.Val237Met) c.547G>A (p.Val183Met) c.856G>A (p.Val286Met) c.691G>A (p.Val231Met) c.940G>A (p.Val314Met) c.754G>A (p.Val252Met) n.871G>A | gnomAD v4 |
13 | g.113118460G>C | CA388785860 | F7 | c.787G>C (p.Val263Leu) c.853G>C (p.Val285Leu) c.601G>C (p.Val201Leu) n.874G>C c.646G>C (p.Val216Leu) c.895G>C (p.Val299Leu) c.709G>C (p.Val237Leu) c.547G>C (p.Val183Leu) c.856G>C (p.Val286Leu) c.691G>C (p.Val231Leu) c.940G>C (p.Val314Leu) c.754G>C (p.Val252Leu) n.871G>C | |
13 | g.113118460G>T | CA388785859 | F7 | c.787G>T (p.Val263Leu) c.853G>T (p.Val285Leu) c.601G>T (p.Val201Leu) n.874G>T c.646G>T (p.Val216Leu) c.895G>T (p.Val299Leu) c.709G>T (p.Val237Leu) c.547G>T (p.Val183Leu) c.856G>T (p.Val286Leu) c.691G>T (p.Val231Leu) c.940G>T (p.Val314Leu) c.754G>T (p.Val252Leu) n.871G>T | gnomAD v4 |
13 | g.113118461T>A | CA388785862 | F7 | c.788T>A (p.Val263Glu) c.854T>A (p.Val285Glu) c.602T>A (p.Val201Glu) n.875T>A c.647T>A (p.Val216Glu) c.896T>A (p.Val299Glu) c.710T>A (p.Val237Glu) c.548T>A (p.Val183Glu) c.857T>A (p.Val286Glu) c.692T>A (p.Val231Glu) c.941T>A (p.Val314Glu) c.755T>A (p.Val252Glu) n.872T>A | |
13 | g.113118461T>C | CA7060147 | F7 | c.788T>C (p.Val263Ala) c.854T>C (p.Val285Ala) c.602T>C (p.Val201Ala) n.875T>C c.647T>C (p.Val216Ala) c.896T>C (p.Val299Ala) c.710T>C (p.Val237Ala) c.548T>C (p.Val183Ala) c.857T>C (p.Val286Ala) c.692T>C (p.Val231Ala) c.941T>C (p.Val314Ala) c.755T>C (p.Val252Ala) n.872T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118461T>G | CA7060146 | F7 | c.788T>G (p.Val263Gly) c.854T>G (p.Val285Gly) c.602T>G (p.Val201Gly) n.875T>G c.647T>G (p.Val216Gly) c.896T>G (p.Val299Gly) c.710T>G (p.Val237Gly) c.548T>G (p.Val183Gly) c.857T>G (p.Val286Gly) c.692T>G (p.Val231Gly) c.941T>G (p.Val314Gly) c.755T>G (p.Val252Gly) n.872T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118461T= | CA2120141841 | F7 | c.788T= (p.Val263=) c.854T= (p.Val285=) c.602T= (p.Val201=) n.875T= c.647T= (p.Val216=) c.896T= (p.Val299=) c.710T= (p.Val237=) c.548T= (p.Val183=) c.857T= (p.Val286=) c.692T= (p.Val231=) c.941T= (p.Val314=) c.755T= (p.Val252=) n.872T= | |
13 | g.113118462G>A | CA485423836 | F7 | c.789G>A (p.Val263=) c.855G>A (p.Val285=) c.603G>A (p.Val201=) n.876G>A c.648G>A (p.Val216=) c.897G>A (p.Val299=) c.711G>A (p.Val237=) c.549G>A (p.Val183=) c.858G>A (p.Val286=) c.693G>A (p.Val231=) c.942G>A (p.Val314=) c.756G>A (p.Val252=) n.873G>A | |
13 | g.113118462G>C | CA485423837 | F7 | c.789G>C (p.Val263=) c.855G>C (p.Val285=) c.603G>C (p.Val201=) n.876G>C c.648G>C (p.Val216=) c.897G>C (p.Val299=) c.711G>C (p.Val237=) c.549G>C (p.Val183=) c.858G>C (p.Val286=) c.693G>C (p.Val231=) c.942G>C (p.Val314=) c.756G>C (p.Val252=) n.873G>C | |
13 | g.113118462G>T | CA485423838 | F7 | c.789G>T (p.Val263=) c.855G>T (p.Val285=) c.603G>T (p.Val201=) n.876G>T c.648G>T (p.Val216=) c.897G>T (p.Val299=) c.711G>T (p.Val237=) c.549G>T (p.Val183=) c.858G>T (p.Val286=) c.693G>T (p.Val231=) c.942G>T (p.Val314=) c.756G>T (p.Val252=) n.873G>T | |
13 | g.113118463G>A | CA388785863 | F7 | c.790G>A (p.Ala264Thr) c.856G>A (p.Ala286Thr) c.604G>A (p.Ala202Thr) n.877G>A c.649G>A (p.Ala217Thr) c.898G>A (p.Ala300Thr) c.712G>A (p.Ala238Thr) c.550G>A (p.Ala184Thr) c.859G>A (p.Ala287Thr) c.694G>A (p.Ala232Thr) c.943G>A (p.Ala315Thr) c.757G>A (p.Ala253Thr) n.874G>A | gnomAD v4 |
13 | g.113118463G>C | CA388785864 | F7 | c.790G>C (p.Ala264Pro) c.856G>C (p.Ala286Pro) c.604G>C (p.Ala202Pro) n.877G>C c.649G>C (p.Ala217Pro) c.898G>C (p.Ala300Pro) c.712G>C (p.Ala238Pro) c.550G>C (p.Ala184Pro) c.859G>C (p.Ala287Pro) c.694G>C (p.Ala232Pro) c.943G>C (p.Ala315Pro) c.757G>C (p.Ala253Pro) n.874G>C | |
13 | g.113118463G= | CA2120141847 | F7 | c.790G= (p.Ala264=) c.856G= (p.Ala286=) c.604G= (p.Ala202=) n.877G= c.649G= (p.Ala217=) c.898G= (p.Ala300=) c.712G= (p.Ala238=) c.550G= (p.Ala184=) c.859G= (p.Ala287=) c.694G= (p.Ala232=) c.943G= (p.Ala315=) c.757G= (p.Ala253=) n.874G= | |
13 | g.113118463G>T | CA7060148 | F7 | c.790G>T (p.Ala264Ser) c.856G>T (p.Ala286Ser) c.604G>T (p.Ala202Ser) n.877G>T c.649G>T (p.Ala217Ser) c.898G>T (p.Ala300Ser) c.712G>T (p.Ala238Ser) c.550G>T (p.Ala184Ser) c.859G>T (p.Ala287Ser) c.694G>T (p.Ala232Ser) c.943G>T (p.Ala315Ser) c.757G>T (p.Ala253Ser) n.874G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118464C>A | CA388785865 | F7 | c.791C>A (p.Ala264Glu) c.857C>A (p.Ala286Glu) c.605C>A (p.Ala202Glu) n.878C>A c.650C>A (p.Ala217Glu) c.899C>A (p.Ala300Glu) c.713C>A (p.Ala238Glu) c.551C>A (p.Ala184Glu) c.860C>A (p.Ala287Glu) c.695C>A (p.Ala232Glu) c.944C>A (p.Ala315Glu) c.758C>A (p.Ala253Glu) n.875C>A | |
13 | g.113118464C= | CA2120141858 | F7 | c.791C= (p.Ala264=) c.857C= (p.Ala286=) c.605C= (p.Ala202=) n.878C= c.650C= (p.Ala217=) c.899C= (p.Ala300=) c.713C= (p.Ala238=) c.551C= (p.Ala184=) c.860C= (p.Ala287=) c.695C= (p.Ala232=) c.944C= (p.Ala315=) c.758C= (p.Ala253=) n.875C= | |
13 | g.113118464C>G | CA388785866 | F7 | c.791C>G (p.Ala264Gly) c.857C>G (p.Ala286Gly) c.605C>G (p.Ala202Gly) n.878C>G c.650C>G (p.Ala217Gly) c.899C>G (p.Ala300Gly) c.713C>G (p.Ala238Gly) c.551C>G (p.Ala184Gly) c.860C>G (p.Ala287Gly) c.695C>G (p.Ala232Gly) c.944C>G (p.Ala315Gly) c.758C>G (p.Ala253Gly) n.875C>G | |
13 | g.113118464C>T | CA7060149 | F7 | c.791C>T (p.Ala264Val) c.857C>T (p.Ala286Val) c.605C>T (p.Ala202Val) n.878C>T c.650C>T (p.Ala217Val) c.899C>T (p.Ala300Val) c.713C>T (p.Ala238Val) c.551C>T (p.Ala184Val) c.860C>T (p.Ala287Val) c.695C>T (p.Ala232Val) c.944C>T (p.Ala315Val) c.758C>T (p.Ala253Val) n.875C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118465G>A | CA7060150 | F7 | c.792G>A (p.Ala264=) c.858G>A (p.Ala286=) c.606G>A (p.Ala202=) n.879G>A c.651G>A (p.Ala217=) c.900G>A (p.Ala300=) c.714G>A (p.Ala238=) c.552G>A (p.Ala184=) c.861G>A (p.Ala287=) c.696G>A (p.Ala232=) c.945G>A (p.Ala315=) c.759G>A (p.Ala253=) n.876G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113118465G>C | CA485423840 | F7 | c.792G>C (p.Ala264=) c.858G>C (p.Ala286=) c.606G>C (p.Ala202=) n.879G>C c.651G>C (p.Ala217=) c.900G>C (p.Ala300=) c.714G>C (p.Ala238=) c.552G>C (p.Ala184=) c.861G>C (p.Ala287=) c.696G>C (p.Ala232=) c.945G>C (p.Ala315=) c.759G>C (p.Ala253=) n.876G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118465G= | CA2120141869 | F7 | c.792G= (p.Ala264=) c.858G= (p.Ala286=) c.606G= (p.Ala202=) n.879G= c.651G= (p.Ala217=) c.900G= (p.Ala300=) c.714G= (p.Ala238=) c.552G= (p.Ala184=) c.861G= (p.Ala287=) c.696G= (p.Ala232=) c.945G= (p.Ala315=) c.759G= (p.Ala253=) n.876G= | |
13 | g.113118465G>T | CA485423839 | F7 | c.792G>T (p.Ala264=) c.858G>T (p.Ala286=) c.606G>T (p.Ala202=) n.879G>T c.651G>T (p.Ala217=) c.900G>T (p.Ala300=) c.714G>T (p.Ala238=) c.552G>T (p.Ala184=) c.861G>T (p.Ala287=) c.696G>T (p.Ala232=) c.945G>T (p.Ala315=) c.759G>T (p.Ala253=) n.876G>T | dbSNP gnomAD v4 |
13 | g.113118466C>A | CA388785867 | F7 | c.793C>A (p.Gln265Lys) c.859C>A (p.Gln287Lys) c.607C>A (p.Gln203Lys) n.880C>A c.652C>A (p.Gln218Lys) c.901C>A (p.Gln301Lys) c.715C>A (p.Gln239Lys) c.553C>A (p.Gln185Lys) c.862C>A (p.Gln288Lys) c.697C>A (p.Gln233Lys) c.946C>A (p.Gln316Lys) c.760C>A (p.Gln254Lys) n.877C>A | gnomAD v4 |
13 | g.113118466C>G | CA388785868 | F7 | c.793C>G (p.Gln265Glu) c.859C>G (p.Gln287Glu) c.607C>G (p.Gln203Glu) n.880C>G c.652C>G (p.Gln218Glu) c.901C>G (p.Gln301Glu) c.715C>G (p.Gln239Glu) c.553C>G (p.Gln185Glu) c.862C>G (p.Gln288Glu) c.697C>G (p.Gln233Glu) c.946C>G (p.Gln316Glu) c.760C>G (p.Gln254Glu) n.877C>G | |
13 | g.113118466C>T | CA388785869 | F7 | c.793C>T (p.Gln265Ter) c.859C>T (p.Gln287Ter) c.607C>T (p.Gln203Ter) n.880C>T c.652C>T (p.Gln218Ter) c.901C>T (p.Gln301Ter) c.715C>T (p.Gln239Ter) c.553C>T (p.Gln185Ter) c.862C>T (p.Gln288Ter) c.697C>T (p.Gln233Ter) c.946C>T (p.Gln316Ter) c.760C>T (p.Gln254Ter) n.877C>T | |
13 | g.113118467A= | CA2120141879 | F7 | c.794A= (p.Gln265=) c.860A= (p.Gln287=) c.608A= (p.Gln203=) n.881A= c.653A= (p.Gln218=) c.902A= (p.Gln301=) c.716A= (p.Gln239=) c.554A= (p.Gln185=) c.863A= (p.Gln288=) c.698A= (p.Gln233=) c.947A= (p.Gln316=) c.761A= (p.Gln254=) n.878A= | |
13 | g.113118467A>C | CA388785872 | F7 | c.794A>C (p.Gln265Pro) c.860A>C (p.Gln287Pro) c.608A>C (p.Gln203Pro) n.881A>C c.653A>C (p.Gln218Pro) c.902A>C (p.Gln301Pro) c.716A>C (p.Gln239Pro) c.554A>C (p.Gln185Pro) c.863A>C (p.Gln288Pro) c.698A>C (p.Gln233Pro) c.947A>C (p.Gln316Pro) c.761A>C (p.Gln254Pro) n.878A>C | |
13 | g.113118467A>G | CA388785870 | F7 | c.794A>G (p.Gln265Arg) c.860A>G (p.Gln287Arg) c.608A>G (p.Gln203Arg) n.881A>G c.653A>G (p.Gln218Arg) c.902A>G (p.Gln301Arg) c.716A>G (p.Gln239Arg) c.554A>G (p.Gln185Arg) c.863A>G (p.Gln288Arg) c.698A>G (p.Gln233Arg) c.947A>G (p.Gln316Arg) c.761A>G (p.Gln254Arg) n.878A>G | |
13 | g.113118467A>T | CA388785871 | F7 | c.794A>T (p.Gln265Leu) c.860A>T (p.Gln287Leu) c.608A>T (p.Gln203Leu) n.881A>T c.653A>T (p.Gln218Leu) c.902A>T (p.Gln301Leu) c.716A>T (p.Gln239Leu) c.554A>T (p.Gln185Leu) c.863A>T (p.Gln288Leu) c.698A>T (p.Gln233Leu) c.947A>T (p.Gln316Leu) c.761A>T (p.Gln254Leu) n.878A>T | dbSNP gnomAD v4 |
13 | g.113118468G>A | CA485423841 | F7 | c.795G>A (p.Gln265=) c.861G>A (p.Gln287=) c.609G>A (p.Gln203=) n.882G>A c.654G>A (p.Gln218=) c.903G>A (p.Gln301=) c.717G>A (p.Gln239=) c.555G>A (p.Gln185=) c.864G>A (p.Gln288=) c.699G>A (p.Gln233=) c.948G>A (p.Gln316=) c.762G>A (p.Gln254=) n.879G>A | |
13 | g.113118468G>C | CA388785873 | F7 | c.795G>C (p.Gln265His) c.861G>C (p.Gln287His) c.609G>C (p.Gln203His) n.882G>C c.654G>C (p.Gln218His) c.903G>C (p.Gln301His) c.717G>C (p.Gln239His) c.555G>C (p.Gln185His) c.864G>C (p.Gln288His) c.699G>C (p.Gln233His) c.948G>C (p.Gln316His) c.762G>C (p.Gln254His) n.879G>C | |
13 | g.113118468G= | CA2120141884 | F7 | c.795G= (p.Gln265=) c.861G= (p.Gln287=) c.609G= (p.Gln203=) n.882G= c.654G= (p.Gln218=) c.903G= (p.Gln301=) c.717G= (p.Gln239=) c.555G= (p.Gln185=) c.864G= (p.Gln288=) c.699G= (p.Gln233=) c.948G= (p.Gln316=) c.762G= (p.Gln254=) n.879G= | |
13 | g.113118468G>T | CA388785874 | F7 | c.795G>T (p.Gln265His) c.861G>T (p.Gln287His) c.609G>T (p.Gln203His) n.882G>T c.654G>T (p.Gln218His) c.903G>T (p.Gln301His) c.717G>T (p.Gln239His) c.555G>T (p.Gln185His) c.864G>T (p.Gln288His) c.699G>T (p.Gln233His) c.948G>T (p.Gln316His) c.762G>T (p.Gln254His) n.879G>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118469G>A | CA388785875 | F7 | c.796G>A (p.Val266Ile) c.862G>A (p.Val288Ile) c.610G>A (p.Val204Ile) n.883G>A c.655G>A (p.Val219Ile) c.904G>A (p.Val302Ile) c.718G>A (p.Val240Ile) c.556G>A (p.Val186Ile) c.865G>A (p.Val289Ile) c.700G>A (p.Val234Ile) c.949G>A (p.Val317Ile) c.763G>A (p.Val255Ile) n.880G>A | |
13 | g.113118469G>C | CA388785876 | F7 | c.796G>C (p.Val266Leu) c.862G>C (p.Val288Leu) c.610G>C (p.Val204Leu) n.883G>C c.655G>C (p.Val219Leu) c.904G>C (p.Val302Leu) c.718G>C (p.Val240Leu) c.556G>C (p.Val186Leu) c.865G>C (p.Val289Leu) c.700G>C (p.Val234Leu) c.949G>C (p.Val317Leu) c.763G>C (p.Val255Leu) n.880G>C | |
13 | g.113118469G>T | CA388785877 | F7 | c.796G>T (p.Val266Phe) c.862G>T (p.Val288Phe) c.610G>T (p.Val204Phe) n.883G>T c.655G>T (p.Val219Phe) c.904G>T (p.Val302Phe) c.718G>T (p.Val240Phe) c.556G>T (p.Val186Phe) c.865G>T (p.Val289Phe) c.700G>T (p.Val234Phe) c.949G>T (p.Val317Phe) c.763G>T (p.Val255Phe) n.880G>T | |
13 | g.113118469_113118471del | CA2623808935 | F7 | c.796_798del (p.Val266del) c.862_864del (p.Val288del) c.610_612del (p.Val204del) n.883_885del c.655_657del (p.Val219del) c.904_906del (p.Val302del) c.718_720del (p.Val240del) c.556_558del (p.Val186del) c.865_867del (p.Val289del) c.700_702del (p.Val234del) c.949_951del (p.Val317del) c.763_765del (p.Val255del) n.880_882del | gnomAD v4 |
13 | g.113118469_113118472delinsGTCA | CA2120141891 | F7 | c.796_799delinsGTCA (p.Val266=) c.862_865delinsGTCA (p.Val288=) c.610_613delinsGTCA (p.Val204=) n.883_886delinsGTCA c.655_658delinsGTCA (p.Val219=) c.904_907delinsGTCA (p.Val302=) c.718_721delinsGTCA (p.Val240=) c.556_559delinsGTCA (p.Val186=) c.865_868delinsGTCA (p.Val289=) c.700_703delinsGTCA (p.Val234=) c.949_952delinsGTCA (p.Val317=) c.763_766delinsGTCA (p.Val255=) n.880_883delinsGTCA | |
13 | g.113118470T>A | CA388785878 | F7 | c.797T>A (p.Val266Asp) c.863T>A (p.Val288Asp) c.611T>A (p.Val204Asp) n.884T>A c.656T>A (p.Val219Asp) c.905T>A (p.Val302Asp) c.719T>A (p.Val240Asp) c.557T>A (p.Val186Asp) c.866T>A (p.Val289Asp) c.701T>A (p.Val234Asp) c.950T>A (p.Val317Asp) c.764T>A (p.Val255Asp) n.881T>A | |
13 | g.113118470T>C | CA388785879 | F7 | c.797T>C (p.Val266Ala) c.863T>C (p.Val288Ala) c.611T>C (p.Val204Ala) n.884T>C c.656T>C (p.Val219Ala) c.905T>C (p.Val302Ala) c.719T>C (p.Val240Ala) c.557T>C (p.Val186Ala) c.866T>C (p.Val289Ala) c.701T>C (p.Val234Ala) c.950T>C (p.Val317Ala) c.764T>C (p.Val255Ala) n.881T>C | |
13 | g.113118470T>G | CA388785880 | F7 | c.797T>G (p.Val266Gly) c.863T>G (p.Val288Gly) c.611T>G (p.Val204Gly) n.884T>G c.656T>G (p.Val219Gly) c.905T>G (p.Val302Gly) c.719T>G (p.Val240Gly) c.557T>G (p.Val186Gly) c.866T>G (p.Val289Gly) c.701T>G (p.Val234Gly) c.950T>G (p.Val317Gly) c.764T>G (p.Val255Gly) n.881T>G | dbSNP gnomAD v2 |
13 | g.113118470T= | CA2120141892 | F7 | c.797T= (p.Val266=) c.863T= (p.Val288=) c.611T= (p.Val204=) n.884T= c.656T= (p.Val219=) c.905T= (p.Val302=) c.719T= (p.Val240=) c.557T= (p.Val186=) c.866T= (p.Val289=) c.701T= (p.Val234=) c.950T= (p.Val317=) c.764T= (p.Val255=) n.881T= | |
13 | g.113118475_113118477del | CA7060151 | F7 | c.802_804del (p.Ile268del) c.868_870del (p.Ile290del) c.616_618del (p.Ile206del) n.889_891del c.661_663del (p.Ile221del) c.910_912del (p.Ile304del) c.724_726del (p.Ile242del) c.562_564del (p.Ile188del) c.871_873del (p.Ile291del) c.706_708del (p.Ile236del) c.955_957del (p.Ile319del) c.769_771del (p.Ile257del) n.886_888del | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118471C>A | CA485423842 | F7 | c.798C>A (p.Val266=) c.864C>A (p.Val288=) c.612C>A (p.Val204=) n.885C>A c.657C>A (p.Val219=) c.906C>A (p.Val302=) c.720C>A (p.Val240=) c.558C>A (p.Val186=) c.867C>A (p.Val289=) c.702C>A (p.Val234=) c.951C>A (p.Val317=) c.765C>A (p.Val255=) n.882C>A | |
13 | g.113118471C>G | CA485423843 | F7 | c.798C>G (p.Val266=) c.864C>G (p.Val288=) c.612C>G (p.Val204=) n.885C>G c.657C>G (p.Val219=) c.906C>G (p.Val302=) c.720C>G (p.Val240=) c.558C>G (p.Val186=) c.867C>G (p.Val289=) c.702C>G (p.Val234=) c.951C>G (p.Val317=) c.765C>G (p.Val255=) n.882C>G | |
13 | g.113118471C>T | CA485423844 | F7 | c.798C>T (p.Val266=) c.864C>T (p.Val288=) c.612C>T (p.Val204=) n.885C>T c.657C>T (p.Val219=) c.906C>T (p.Val302=) c.720C>T (p.Val240=) c.558C>T (p.Val186=) c.867C>T (p.Val289=) c.702C>T (p.Val234=) c.951C>T (p.Val317=) c.765C>T (p.Val255=) n.882C>T | |
13 | g.113118472A= | CA2120141897 | F7 | c.799A= (p.Ile267=) c.865A= (p.Ile289=) c.613A= (p.Ile205=) n.886A= c.658A= (p.Ile220=) c.907A= (p.Ile303=) c.721A= (p.Ile241=) c.559A= (p.Ile187=) c.868A= (p.Ile290=) c.703A= (p.Ile235=) c.952A= (p.Ile318=) c.766A= (p.Ile256=) n.883A= | |
13 | g.113118472A>C | CA388785881 | F7 | c.799A>C (p.Ile267Leu) c.865A>C (p.Ile289Leu) c.613A>C (p.Ile205Leu) n.886A>C c.658A>C (p.Ile220Leu) c.907A>C (p.Ile303Leu) c.721A>C (p.Ile241Leu) c.559A>C (p.Ile187Leu) c.868A>C (p.Ile290Leu) c.703A>C (p.Ile235Leu) c.952A>C (p.Ile318Leu) c.766A>C (p.Ile256Leu) n.883A>C | |
13 | g.113118472A>G | CA388785882 | F7 | c.799A>G (p.Ile267Val) c.865A>G (p.Ile289Val) c.613A>G (p.Ile205Val) n.886A>G c.658A>G (p.Ile220Val) c.907A>G (p.Ile303Val) c.721A>G (p.Ile241Val) c.559A>G (p.Ile187Val) c.868A>G (p.Ile290Val) c.703A>G (p.Ile235Val) c.952A>G (p.Ile318Val) c.766A>G (p.Ile256Val) n.883A>G | dbSNP |
13 | g.113118472A>T | CA388785883 | F7 | c.799A>T (p.Ile267Phe) c.865A>T (p.Ile289Phe) c.613A>T (p.Ile205Phe) n.886A>T c.658A>T (p.Ile220Phe) c.907A>T (p.Ile303Phe) c.721A>T (p.Ile241Phe) c.559A>T (p.Ile187Phe) c.868A>T (p.Ile290Phe) c.703A>T (p.Ile235Phe) c.952A>T (p.Ile318Phe) c.766A>T (p.Ile256Phe) n.883A>T | |
13 | g.113118473T>A | CA388785885 | F7 | c.800T>A (p.Ile267Asn) c.866T>A (p.Ile289Asn) c.614T>A (p.Ile205Asn) n.887T>A c.659T>A (p.Ile220Asn) c.908T>A (p.Ile303Asn) c.722T>A (p.Ile241Asn) c.560T>A (p.Ile187Asn) c.869T>A (p.Ile290Asn) c.704T>A (p.Ile235Asn) c.953T>A (p.Ile318Asn) c.767T>A (p.Ile256Asn) n.884T>A | |
13 | g.113118473T>C | CA388785886 | F7 | c.800T>C (p.Ile267Thr) c.866T>C (p.Ile289Thr) c.614T>C (p.Ile205Thr) n.887T>C c.659T>C (p.Ile220Thr) c.908T>C (p.Ile303Thr) c.722T>C (p.Ile241Thr) c.560T>C (p.Ile187Thr) c.869T>C (p.Ile290Thr) c.704T>C (p.Ile235Thr) c.953T>C (p.Ile318Thr) c.767T>C (p.Ile256Thr) n.884T>C | |
13 | g.113118473T>G | CA388785884 | F7 | c.800T>G (p.Ile267Ser) c.866T>G (p.Ile289Ser) c.614T>G (p.Ile205Ser) n.887T>G c.659T>G (p.Ile220Ser) c.908T>G (p.Ile303Ser) c.722T>G (p.Ile241Ser) c.560T>G (p.Ile187Ser) c.869T>G (p.Ile290Ser) c.704T>G (p.Ile235Ser) c.953T>G (p.Ile318Ser) c.767T>G (p.Ile256Ser) n.884T>G | |
13 | g.113118474C>A | CA485423845 | F7 | c.801C>A (p.Ile267=) c.867C>A (p.Ile289=) c.615C>A (p.Ile205=) n.888C>A c.660C>A (p.Ile220=) c.909C>A (p.Ile303=) c.723C>A (p.Ile241=) c.561C>A (p.Ile187=) c.870C>A (p.Ile290=) c.705C>A (p.Ile235=) c.954C>A (p.Ile318=) c.768C>A (p.Ile256=) n.885C>A | |
13 | g.113118474C>G | CA388785887 | F7 | c.801C>G (p.Ile267Met) c.867C>G (p.Ile289Met) c.615C>G (p.Ile205Met) n.888C>G c.660C>G (p.Ile220Met) c.909C>G (p.Ile303Met) c.723C>G (p.Ile241Met) c.561C>G (p.Ile187Met) c.870C>G (p.Ile290Met) c.705C>G (p.Ile235Met) c.954C>G (p.Ile318Met) c.768C>G (p.Ile256Met) n.885C>G | |
13 | g.113118474C>T | CA485423846 | F7 | c.801C>T (p.Ile267=) c.867C>T (p.Ile289=) c.615C>T (p.Ile205=) n.888C>T c.660C>T (p.Ile220=) c.909C>T (p.Ile303=) c.723C>T (p.Ile241=) c.561C>T (p.Ile187=) c.870C>T (p.Ile290=) c.705C>T (p.Ile235=) c.954C>T (p.Ile318=) c.768C>T (p.Ile256=) n.885C>T | |
13 | g.113118475A>C | CA388785890 | F7 | c.802A>C (p.Ile268Leu) c.868A>C (p.Ile290Leu) c.616A>C (p.Ile206Leu) n.889A>C c.661A>C (p.Ile221Leu) c.910A>C (p.Ile304Leu) c.724A>C (p.Ile242Leu) c.562A>C (p.Ile188Leu) c.871A>C (p.Ile291Leu) c.706A>C (p.Ile236Leu) c.955A>C (p.Ile319Leu) c.769A>C (p.Ile257Leu) n.886A>C | |
13 | g.113118475A>G | CA388785888 | F7 | c.802A>G (p.Ile268Val) c.868A>G (p.Ile290Val) c.616A>G (p.Ile206Val) n.889A>G c.661A>G (p.Ile221Val) c.910A>G (p.Ile304Val) c.724A>G (p.Ile242Val) c.562A>G (p.Ile188Val) c.871A>G (p.Ile291Val) c.706A>G (p.Ile236Val) c.955A>G (p.Ile319Val) c.769A>G (p.Ile257Val) n.886A>G | |
13 | g.113118475A>T | CA388785889 | F7 | c.802A>T (p.Ile268Phe) c.868A>T (p.Ile290Phe) c.616A>T (p.Ile206Phe) n.889A>T c.661A>T (p.Ile221Phe) c.910A>T (p.Ile304Phe) c.724A>T (p.Ile242Phe) c.562A>T (p.Ile188Phe) c.871A>T (p.Ile291Phe) c.706A>T (p.Ile236Phe) c.955A>T (p.Ile319Phe) c.769A>T (p.Ile257Phe) n.886A>T | |
13 | g.113118476T>A | CA388785891 | F7 | c.803T>A (p.Ile268Asn) c.869T>A (p.Ile290Asn) c.617T>A (p.Ile206Asn) n.890T>A c.662T>A (p.Ile221Asn) c.911T>A (p.Ile304Asn) c.725T>A (p.Ile242Asn) c.563T>A (p.Ile188Asn) c.872T>A (p.Ile291Asn) c.707T>A (p.Ile236Asn) c.956T>A (p.Ile319Asn) c.770T>A (p.Ile257Asn) n.887T>A | |
13 | g.113118476T>C | CA388785892 | F7 | c.803T>C (p.Ile268Thr) c.869T>C (p.Ile290Thr) c.617T>C (p.Ile206Thr) n.890T>C c.662T>C (p.Ile221Thr) c.911T>C (p.Ile304Thr) c.725T>C (p.Ile242Thr) c.563T>C (p.Ile188Thr) c.872T>C (p.Ile291Thr) c.707T>C (p.Ile236Thr) c.956T>C (p.Ile319Thr) c.770T>C (p.Ile257Thr) n.887T>C | |
13 | g.113118476T>G | CA388785893 | F7 | c.803T>G (p.Ile268Ser) c.869T>G (p.Ile290Ser) c.617T>G (p.Ile206Ser) n.890T>G c.662T>G (p.Ile221Ser) c.911T>G (p.Ile304Ser) c.725T>G (p.Ile242Ser) c.563T>G (p.Ile188Ser) c.872T>G (p.Ile291Ser) c.707T>G (p.Ile236Ser) c.956T>G (p.Ile319Ser) c.770T>G (p.Ile257Ser) n.887T>G | |
13 | g.113118477C>A | CA485423847 | F7 | c.804C>A (p.Ile268=) c.870C>A (p.Ile290=) c.618C>A (p.Ile206=) n.891C>A c.663C>A (p.Ile221=) c.912C>A (p.Ile304=) c.726C>A (p.Ile242=) c.564C>A (p.Ile188=) c.873C>A (p.Ile291=) c.708C>A (p.Ile236=) c.957C>A (p.Ile319=) c.771C>A (p.Ile257=) n.888C>A | |
13 | g.113118477C>G | CA388785894 | F7 | c.804C>G (p.Ile268Met) c.870C>G (p.Ile290Met) c.618C>G (p.Ile206Met) n.891C>G c.663C>G (p.Ile221Met) c.912C>G (p.Ile304Met) c.726C>G (p.Ile242Met) c.564C>G (p.Ile188Met) c.873C>G (p.Ile291Met) c.708C>G (p.Ile236Met) c.957C>G (p.Ile319Met) c.771C>G (p.Ile257Met) n.888C>G | |
13 | g.113118477C>T | CA485423848 | F7 | c.804C>T (p.Ile268=) c.870C>T (p.Ile290=) c.618C>T (p.Ile206=) n.891C>T c.663C>T (p.Ile221=) c.912C>T (p.Ile304=) c.726C>T (p.Ile242=) c.564C>T (p.Ile188=) c.873C>T (p.Ile291=) c.708C>T (p.Ile236=) c.957C>T (p.Ile319=) c.771C>T (p.Ile257=) n.888C>T | |
13 | g.113118478C>A | CA388785895 | F7 | c.805C>A (p.Pro269Thr) c.871C>A (p.Pro291Thr) c.619C>A (p.Pro207Thr) n.892C>A c.664C>A (p.Pro222Thr) c.913C>A (p.Pro305Thr) c.727C>A (p.Pro243Thr) c.565C>A (p.Pro189Thr) c.874C>A (p.Pro292Thr) c.709C>A (p.Pro237Thr) c.958C>A (p.Pro320Thr) c.772C>A (p.Pro258Thr) n.889C>A | gnomAD v4 |
13 | g.113118478C= | CA2120141899 | F7 | c.805C= (p.Pro269=) c.871C= (p.Pro291=) c.619C= (p.Pro207=) n.892C= c.664C= (p.Pro222=) c.913C= (p.Pro305=) c.727C= (p.Pro243=) c.565C= (p.Pro189=) c.874C= (p.Pro292=) c.709C= (p.Pro237=) c.958C= (p.Pro320=) c.772C= (p.Pro258=) n.889C= | |
13 | g.113118478C>G | CA388785896 | F7 | c.805C>G (p.Pro269Ala) c.871C>G (p.Pro291Ala) c.619C>G (p.Pro207Ala) n.892C>G c.664C>G (p.Pro222Ala) c.913C>G (p.Pro305Ala) c.727C>G (p.Pro243Ala) c.565C>G (p.Pro189Ala) c.874C>G (p.Pro292Ala) c.709C>G (p.Pro237Ala) c.958C>G (p.Pro320Ala) c.772C>G (p.Pro258Ala) n.889C>G | |
13 | g.113118478C>T | CA256461494 | F7 | c.805C>T (p.Pro269Ser) c.871C>T (p.Pro291Ser) c.619C>T (p.Pro207Ser) n.892C>T c.664C>T (p.Pro222Ser) c.913C>T (p.Pro305Ser) c.727C>T (p.Pro243Ser) c.565C>T (p.Pro189Ser) c.874C>T (p.Pro292Ser) c.709C>T (p.Pro237Ser) c.958C>T (p.Pro320Ser) c.772C>T (p.Pro258Ser) n.889C>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118479C>A | CA388785897 | F7 | c.806C>A (p.Pro269His) c.872C>A (p.Pro291His) c.620C>A (p.Pro207His) n.893C>A c.665C>A (p.Pro222His) c.914C>A (p.Pro305His) c.728C>A (p.Pro243His) c.566C>A (p.Pro189His) c.875C>A (p.Pro292His) c.710C>A (p.Pro237His) c.959C>A (p.Pro320His) c.773C>A (p.Pro258His) n.890C>A | |
13 | g.113118479C>G | CA388785898 | F7 | c.806C>G (p.Pro269Arg) c.872C>G (p.Pro291Arg) c.620C>G (p.Pro207Arg) n.893C>G c.665C>G (p.Pro222Arg) c.914C>G (p.Pro305Arg) c.728C>G (p.Pro243Arg) c.566C>G (p.Pro189Arg) c.875C>G (p.Pro292Arg) c.710C>G (p.Pro237Arg) c.959C>G (p.Pro320Arg) c.773C>G (p.Pro258Arg) n.890C>G | COSMIC |
13 | g.113118479C>T | CA388785899 | F7 | c.806C>T (p.Pro269Leu) c.872C>T (p.Pro291Leu) c.620C>T (p.Pro207Leu) n.893C>T c.665C>T (p.Pro222Leu) c.914C>T (p.Pro305Leu) c.728C>T (p.Pro243Leu) c.566C>T (p.Pro189Leu) c.875C>T (p.Pro292Leu) c.710C>T (p.Pro237Leu) c.959C>T (p.Pro320Leu) c.773C>T (p.Pro258Leu) n.890C>T | |
13 | g.113118480C>A | CA485423849 | F7 | c.807C>A (p.Pro269=) c.873C>A (p.Pro291=) c.621C>A (p.Pro207=) n.894C>A c.666C>A (p.Pro222=) c.915C>A (p.Pro305=) c.729C>A (p.Pro243=) c.567C>A (p.Pro189=) c.876C>A (p.Pro292=) c.711C>A (p.Pro237=) c.960C>A (p.Pro320=) c.774C>A (p.Pro258=) n.891C>A | |
13 | g.113118480C= | CA2120141902 | F7 | c.807C= (p.Pro269=) c.873C= (p.Pro291=) c.621C= (p.Pro207=) n.894C= c.666C= (p.Pro222=) c.915C= (p.Pro305=) c.729C= (p.Pro243=) c.567C= (p.Pro189=) c.876C= (p.Pro292=) c.711C= (p.Pro237=) c.960C= (p.Pro320=) c.774C= (p.Pro258=) n.891C= | |
13 | g.113118480C>G | CA485423851 | F7 | c.807C>G (p.Pro269=) c.873C>G (p.Pro291=) c.621C>G (p.Pro207=) n.894C>G c.666C>G (p.Pro222=) c.915C>G (p.Pro305=) c.729C>G (p.Pro243=) c.567C>G (p.Pro189=) c.876C>G (p.Pro292=) c.711C>G (p.Pro237=) c.960C>G (p.Pro320=) c.774C>G (p.Pro258=) n.891C>G | |
13 | g.113118480C>T | CA485423850 | F7 | c.807C>T (p.Pro269=) c.873C>T (p.Pro291=) c.621C>T (p.Pro207=) n.894C>T c.666C>T (p.Pro222=) c.915C>T (p.Pro305=) c.729C>T (p.Pro243=) c.567C>T (p.Pro189=) c.876C>T (p.Pro292=) c.711C>T (p.Pro237=) c.960C>T (p.Pro320=) c.774C>T (p.Pro258=) n.891C>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118481A>C | CA388785902 | F7 | c.808A>C (p.Ser270Arg) c.874A>C (p.Ser292Arg) c.622A>C (p.Ser208Arg) n.895A>C c.667A>C (p.Ser223Arg) c.916A>C (p.Ser306Arg) c.730A>C (p.Ser244Arg) c.568A>C (p.Ser190Arg) c.877A>C (p.Ser293Arg) c.712A>C (p.Ser238Arg) c.961A>C (p.Ser321Arg) c.775A>C (p.Ser259Arg) n.892A>C | |
13 | g.113118481A>G | CA388785900 | F7 | c.808A>G (p.Ser270Gly) c.874A>G (p.Ser292Gly) c.622A>G (p.Ser208Gly) n.895A>G c.667A>G (p.Ser223Gly) c.916A>G (p.Ser306Gly) c.730A>G (p.Ser244Gly) c.568A>G (p.Ser190Gly) c.877A>G (p.Ser293Gly) c.712A>G (p.Ser238Gly) c.961A>G (p.Ser321Gly) c.775A>G (p.Ser259Gly) n.892A>G | |
13 | g.113118481A>T | CA388785901 | F7 | c.808A>T (p.Ser270Cys) c.874A>T (p.Ser292Cys) c.622A>T (p.Ser208Cys) n.895A>T c.667A>T (p.Ser223Cys) c.916A>T (p.Ser306Cys) c.730A>T (p.Ser244Cys) c.568A>T (p.Ser190Cys) c.877A>T (p.Ser293Cys) c.712A>T (p.Ser238Cys) c.961A>T (p.Ser321Cys) c.775A>T (p.Ser259Cys) n.892A>T | |
13 | g.113118482G>A | CA388785903 | F7 | c.809G>A (p.Ser270Asn) c.875G>A (p.Ser292Asn) c.623G>A (p.Ser208Asn) n.896G>A c.668G>A (p.Ser223Asn) c.917G>A (p.Ser306Asn) c.731G>A (p.Ser244Asn) c.569G>A (p.Ser190Asn) c.878G>A (p.Ser293Asn) c.713G>A (p.Ser238Asn) c.962G>A (p.Ser321Asn) c.776G>A (p.Ser259Asn) n.893G>A | |
13 | g.113118482G>C | CA388785904 | F7 | c.809G>C (p.Ser270Thr) c.875G>C (p.Ser292Thr) c.623G>C (p.Ser208Thr) n.896G>C c.668G>C (p.Ser223Thr) c.917G>C (p.Ser306Thr) c.731G>C (p.Ser244Thr) c.569G>C (p.Ser190Thr) c.878G>C (p.Ser293Thr) c.713G>C (p.Ser238Thr) c.962G>C (p.Ser321Thr) c.776G>C (p.Ser259Thr) n.893G>C | |
13 | g.113118482G>T | CA388785905 | F7 | c.809G>T (p.Ser270Ile) c.875G>T (p.Ser292Ile) c.623G>T (p.Ser208Ile) n.896G>T c.668G>T (p.Ser223Ile) c.917G>T (p.Ser306Ile) c.731G>T (p.Ser244Ile) c.569G>T (p.Ser190Ile) c.878G>T (p.Ser293Ile) c.713G>T (p.Ser238Ile) c.962G>T (p.Ser321Ile) c.776G>T (p.Ser259Ile) n.893G>T | |
13 | g.113118483C>A | CA388785906 | F7 | c.810C>A (p.Ser270Arg) c.876C>A (p.Ser292Arg) c.624C>A (p.Ser208Arg) n.897C>A c.669C>A (p.Ser223Arg) c.918C>A (p.Ser306Arg) c.732C>A (p.Ser244Arg) c.570C>A (p.Ser190Arg) c.879C>A (p.Ser293Arg) c.714C>A (p.Ser238Arg) c.963C>A (p.Ser321Arg) c.777C>A (p.Ser259Arg) n.894C>A | |
13 | g.113118483C>G | CA388785907 | F7 | c.810C>G (p.Ser270Arg) c.876C>G (p.Ser292Arg) c.624C>G (p.Ser208Arg) n.897C>G c.669C>G (p.Ser223Arg) c.918C>G (p.Ser306Arg) c.732C>G (p.Ser244Arg) c.570C>G (p.Ser190Arg) c.879C>G (p.Ser293Arg) c.714C>G (p.Ser238Arg) c.963C>G (p.Ser321Arg) c.777C>G (p.Ser259Arg) n.894C>G | |
13 | g.113118483C>T | CA485423852 | F7 | c.810C>T (p.Ser270=) c.876C>T (p.Ser292=) c.624C>T (p.Ser208=) n.897C>T c.669C>T (p.Ser223=) c.918C>T (p.Ser306=) c.732C>T (p.Ser244=) c.570C>T (p.Ser190=) c.879C>T (p.Ser293=) c.714C>T (p.Ser238=) c.963C>T (p.Ser321=) c.777C>T (p.Ser259=) n.894C>T | gnomAD v4 |
13 | g.113118484del | CA2623808937 | F7 | c.811del (p.Thr271ArgfsTer?) c.877del (p.Thr293ArgfsTer?) c.625del (p.Thr209ArgfsTer?) n.898del c.670del (p.Thr224ArgfsTer?) c.919del (p.Thr307ArgfsTer?) c.733del (p.Thr245ArgfsTer?) c.571del (p.Thr191ArgfsTer?) c.880del (p.Thr294ArgfsTer?) c.715del (p.Thr239ArgfsTer?) c.964del (p.Thr322ArgfsTer?) c.778del (p.Thr260ArgfsTer?) n.895del | gnomAD v4 |
13 | g.113118484A= | CA2120141907 | F7 | c.811A= (p.Thr271=) c.877A= (p.Thr293=) c.625A= (p.Thr209=) n.898A= c.670A= (p.Thr224=) c.919A= (p.Thr307=) c.733A= (p.Thr245=) c.571A= (p.Thr191=) c.880A= (p.Thr294=) c.715A= (p.Thr239=) c.964A= (p.Thr322=) c.778A= (p.Thr260=) n.895A= | |
13 | g.113118484A>C | CA388785908 | F7 | c.811A>C (p.Thr271Pro) c.877A>C (p.Thr293Pro) c.625A>C (p.Thr209Pro) n.898A>C c.670A>C (p.Thr224Pro) c.919A>C (p.Thr307Pro) c.733A>C (p.Thr245Pro) c.571A>C (p.Thr191Pro) c.880A>C (p.Thr294Pro) c.715A>C (p.Thr239Pro) c.964A>C (p.Thr322Pro) c.778A>C (p.Thr260Pro) n.895A>C | |
13 | g.113118484A>G | CA388785909 | F7 | c.811A>G (p.Thr271Ala) c.877A>G (p.Thr293Ala) c.625A>G (p.Thr209Ala) n.898A>G c.670A>G (p.Thr224Ala) c.919A>G (p.Thr307Ala) c.733A>G (p.Thr245Ala) c.571A>G (p.Thr191Ala) c.880A>G (p.Thr294Ala) c.715A>G (p.Thr239Ala) c.964A>G (p.Thr322Ala) c.778A>G (p.Thr260Ala) n.895A>G | |
13 | g.113118484A>T | CA388785910 | F7 | c.811A>T (p.Thr271Ser) c.877A>T (p.Thr293Ser) c.625A>T (p.Thr209Ser) n.898A>T c.670A>T (p.Thr224Ser) c.919A>T (p.Thr307Ser) c.733A>T (p.Thr245Ser) c.571A>T (p.Thr191Ser) c.880A>T (p.Thr294Ser) c.715A>T (p.Thr239Ser) c.964A>T (p.Thr322Ser) c.778A>T (p.Thr260Ser) n.895A>T | |
13 | g.113118485C>A | CA388785911 | F7 | c.812C>A (p.Thr271Lys) c.878C>A (p.Thr293Lys) c.626C>A (p.Thr209Lys) n.899C>A c.671C>A (p.Thr224Lys) c.920C>A (p.Thr307Lys) c.734C>A (p.Thr245Lys) c.572C>A (p.Thr191Lys) c.881C>A (p.Thr294Lys) c.716C>A (p.Thr239Lys) c.965C>A (p.Thr322Lys) c.779C>A (p.Thr260Lys) n.896C>A | |
13 | g.113118485C= | CA2120141910 | F7 | c.812C= (p.Thr271=) c.878C= (p.Thr293=) c.626C= (p.Thr209=) n.899C= c.671C= (p.Thr224=) c.920C= (p.Thr307=) c.734C= (p.Thr245=) c.572C= (p.Thr191=) c.881C= (p.Thr294=) c.716C= (p.Thr239=) c.965C= (p.Thr322=) c.779C= (p.Thr260=) n.896C= | |
13 | g.113118485C>G | CA388785912 | F7 | c.812C>G (p.Thr271Arg) c.878C>G (p.Thr293Arg) c.626C>G (p.Thr209Arg) n.899C>G c.671C>G (p.Thr224Arg) c.920C>G (p.Thr307Arg) c.734C>G (p.Thr245Arg) c.572C>G (p.Thr191Arg) c.881C>G (p.Thr294Arg) c.716C>G (p.Thr239Arg) c.965C>G (p.Thr322Arg) c.779C>G (p.Thr260Arg) n.896C>G | |
13 | g.113118485C>T | CA7060152 | F7 | c.812C>T (p.Thr271Met) c.878C>T (p.Thr293Met) c.626C>T (p.Thr209Met) n.899C>T c.671C>T (p.Thr224Met) c.920C>T (p.Thr307Met) c.734C>T (p.Thr245Met) c.572C>T (p.Thr191Met) c.881C>T (p.Thr294Met) c.716C>T (p.Thr239Met) c.965C>T (p.Thr322Met) c.779C>T (p.Thr260Met) n.896C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113118485dup | CA960397064 | F7 | c.812dup (p.Tyr272ValfsTer23) c.878dup (p.Tyr294ValfsTer23) c.626dup (p.Tyr210ValfsTer23) n.899dup c.671dup (p.Tyr225ValfsTer23) c.920dup (p.Tyr308ValfsTer23) c.734dup (p.Tyr246ValfsTer23) c.572dup (p.Tyr192ValfsTer23) c.881dup (p.Tyr295ValfsTer23) c.716dup (p.Tyr240ValfsTer23) c.965dup (p.Tyr323ValfsTer23) c.779dup (p.Tyr261ValfsTer23) n.896dup | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118486G>A | CA7060153 | F7 | c.813G>A (p.Thr271=) c.879G>A (p.Thr293=) c.627G>A (p.Thr209=) n.900G>A c.672G>A (p.Thr224=) c.921G>A (p.Thr307=) c.735G>A (p.Thr245=) c.573G>A (p.Thr191=) c.882G>A (p.Thr294=) c.717G>A (p.Thr239=) c.966G>A (p.Thr322=) c.780G>A (p.Thr260=) n.897G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118486G>C | CA485423854 | F7 | c.813G>C (p.Thr271=) c.879G>C (p.Thr293=) c.627G>C (p.Thr209=) n.900G>C c.672G>C (p.Thr224=) c.921G>C (p.Thr307=) c.735G>C (p.Thr245=) c.573G>C (p.Thr191=) c.882G>C (p.Thr294=) c.717G>C (p.Thr239=) c.966G>C (p.Thr322=) c.780G>C (p.Thr260=) n.897G>C | |
13 | g.113118486G= | CA2120141917 | F7 | c.813G= (p.Thr271=) c.879G= (p.Thr293=) c.627G= (p.Thr209=) n.900G= c.672G= (p.Thr224=) c.921G= (p.Thr307=) c.735G= (p.Thr245=) c.573G= (p.Thr191=) c.882G= (p.Thr294=) c.717G= (p.Thr239=) c.966G= (p.Thr322=) c.780G= (p.Thr260=) n.897G= | |
13 | g.113118486G>T | CA485423853 | F7 | c.813G>T (p.Thr271=) c.879G>T (p.Thr293=) c.627G>T (p.Thr209=) n.900G>T c.672G>T (p.Thr224=) c.921G>T (p.Thr307=) c.735G>T (p.Thr245=) c.573G>T (p.Thr191=) c.882G>T (p.Thr294=) c.717G>T (p.Thr239=) c.966G>T (p.Thr322=) c.780G>T (p.Thr260=) n.897G>T | |
13 | g.113118487T>A | CA388785915 | F7 | c.814T>A (p.Tyr272Asn) c.880T>A (p.Tyr294Asn) c.628T>A (p.Tyr210Asn) n.901T>A c.673T>A (p.Tyr225Asn) c.922T>A (p.Tyr308Asn) c.736T>A (p.Tyr246Asn) c.574T>A (p.Tyr192Asn) c.883T>A (p.Tyr295Asn) c.718T>A (p.Tyr240Asn) c.967T>A (p.Tyr323Asn) c.781T>A (p.Tyr261Asn) n.898T>A | |
13 | g.113118487T>C | CA388785913 | F7 | c.814T>C (p.Tyr272His) c.880T>C (p.Tyr294His) c.628T>C (p.Tyr210His) n.901T>C c.673T>C (p.Tyr225His) c.922T>C (p.Tyr308His) c.736T>C (p.Tyr246His) c.574T>C (p.Tyr192His) c.883T>C (p.Tyr295His) c.718T>C (p.Tyr240His) c.967T>C (p.Tyr323His) c.781T>C (p.Tyr261His) n.898T>C | |
13 | g.113118487T>G | CA388785914 | F7 | c.814T>G (p.Tyr272Asp) c.880T>G (p.Tyr294Asp) c.628T>G (p.Tyr210Asp) n.901T>G c.673T>G (p.Tyr225Asp) c.922T>G (p.Tyr308Asp) c.736T>G (p.Tyr246Asp) c.574T>G (p.Tyr192Asp) c.883T>G (p.Tyr295Asp) c.718T>G (p.Tyr240Asp) c.967T>G (p.Tyr323Asp) c.781T>G (p.Tyr261Asp) n.898T>G | |
13 | g.113118488A= | CA2120141919 | F7 | c.815A= (p.Tyr272=) c.881A= (p.Tyr294=) c.629A= (p.Tyr210=) n.902A= c.674A= (p.Tyr225=) c.923A= (p.Tyr308=) c.737A= (p.Tyr246=) c.575A= (p.Tyr192=) c.884A= (p.Tyr295=) c.719A= (p.Tyr240=) c.968A= (p.Tyr323=) c.782A= (p.Tyr261=) n.899A= | |
13 | g.113118488A>C | CA7060154 | F7 | c.815A>C (p.Tyr272Ser) c.881A>C (p.Tyr294Ser) c.629A>C (p.Tyr210Ser) n.902A>C c.674A>C (p.Tyr225Ser) c.923A>C (p.Tyr308Ser) c.737A>C (p.Tyr246Ser) c.575A>C (p.Tyr192Ser) c.884A>C (p.Tyr295Ser) c.719A>C (p.Tyr240Ser) c.968A>C (p.Tyr323Ser) c.782A>C (p.Tyr261Ser) n.899A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118488A>G | CA388785916 | F7 | c.815A>G (p.Tyr272Cys) c.881A>G (p.Tyr294Cys) c.629A>G (p.Tyr210Cys) n.902A>G c.674A>G (p.Tyr225Cys) c.923A>G (p.Tyr308Cys) c.737A>G (p.Tyr246Cys) c.575A>G (p.Tyr192Cys) c.884A>G (p.Tyr295Cys) c.719A>G (p.Tyr240Cys) c.968A>G (p.Tyr323Cys) c.782A>G (p.Tyr261Cys) n.899A>G | |
13 | g.113118488A>T | CA388785917 | F7 | c.815A>T (p.Tyr272Phe) c.881A>T (p.Tyr294Phe) c.629A>T (p.Tyr210Phe) n.902A>T c.674A>T (p.Tyr225Phe) c.923A>T (p.Tyr308Phe) c.737A>T (p.Tyr246Phe) c.575A>T (p.Tyr192Phe) c.884A>T (p.Tyr295Phe) c.719A>T (p.Tyr240Phe) c.968A>T (p.Tyr323Phe) c.782A>T (p.Tyr261Phe) n.899A>T | dbSNP gnomAD v2 |
13 | g.113118489C>A | CA7060156 | F7 | c.816C>A (p.Tyr272Ter) c.882C>A (p.Tyr294Ter) c.630C>A (p.Tyr210Ter) n.903C>A c.675C>A (p.Tyr225Ter) c.924C>A (p.Tyr308Ter) c.738C>A (p.Tyr246Ter) c.576C>A (p.Tyr192Ter) c.885C>A (p.Tyr295Ter) c.720C>A (p.Tyr240Ter) c.969C>A (p.Tyr323Ter) c.783C>A (p.Tyr261Ter) n.900C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118489C= | CA2120141921 | F7 | c.816C= (p.Tyr272=) c.882C= (p.Tyr294=) c.630C= (p.Tyr210=) n.903C= c.675C= (p.Tyr225=) c.924C= (p.Tyr308=) c.738C= (p.Tyr246=) c.576C= (p.Tyr192=) c.885C= (p.Tyr295=) c.720C= (p.Tyr240=) c.969C= (p.Tyr323=) c.783C= (p.Tyr261=) n.900C= | |
13 | g.113118489C>G | CA388785918 | F7 | c.816C>G (p.Tyr272Ter) c.882C>G (p.Tyr294Ter) c.630C>G (p.Tyr210Ter) n.903C>G c.675C>G (p.Tyr225Ter) c.924C>G (p.Tyr308Ter) c.738C>G (p.Tyr246Ter) c.576C>G (p.Tyr192Ter) c.885C>G (p.Tyr295Ter) c.720C>G (p.Tyr240Ter) c.969C>G (p.Tyr323Ter) c.783C>G (p.Tyr261Ter) n.900C>G | gnomAD v4 |
13 | g.113118489C>T | CA7060155 | F7 | c.816C>T (p.Tyr272=) c.882C>T (p.Tyr294=) c.630C>T (p.Tyr210=) n.903C>T c.675C>T (p.Tyr225=) c.924C>T (p.Tyr308=) c.738C>T (p.Tyr246=) c.576C>T (p.Tyr192=) c.885C>T (p.Tyr295=) c.720C>T (p.Tyr240=) c.969C>T (p.Tyr323=) c.783C>T (p.Tyr261=) n.900C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118490G>A | CA256461508 | F7 | c.817G>A (p.Val273Ile) c.883G>A (p.Val295Ile) c.631G>A (p.Val211Ile) n.904G>A c.676G>A (p.Val226Ile) c.925G>A (p.Val309Ile) c.739G>A (p.Val247Ile) c.577G>A (p.Val193Ile) c.886G>A (p.Val296Ile) c.721G>A (p.Val241Ile) c.970G>A (p.Val324Ile) c.784G>A (p.Val262Ile) n.901G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118490G>C | CA388785919 | F7 | c.817G>C (p.Val273Leu) c.883G>C (p.Val295Leu) c.631G>C (p.Val211Leu) n.904G>C c.676G>C (p.Val226Leu) c.925G>C (p.Val309Leu) c.739G>C (p.Val247Leu) c.577G>C (p.Val193Leu) c.886G>C (p.Val296Leu) c.721G>C (p.Val241Leu) c.970G>C (p.Val324Leu) c.784G>C (p.Val262Leu) n.901G>C | |
13 | g.113118490G= | CA2120141924 | F7 | c.817G= (p.Val273=) c.883G= (p.Val295=) c.631G= (p.Val211=) n.904G= c.676G= (p.Val226=) c.925G= (p.Val309=) c.739G= (p.Val247=) c.577G= (p.Val193=) c.886G= (p.Val296=) c.721G= (p.Val241=) c.970G= (p.Val324=) c.784G= (p.Val262=) n.901G= | |
13 | g.113118490G>T | CA388785920 | F7 | c.817G>T (p.Val273Phe) c.883G>T (p.Val295Phe) c.631G>T (p.Val211Phe) n.904G>T c.676G>T (p.Val226Phe) c.925G>T (p.Val309Phe) c.739G>T (p.Val247Phe) c.577G>T (p.Val193Phe) c.886G>T (p.Val296Phe) c.721G>T (p.Val241Phe) c.970G>T (p.Val324Phe) c.784G>T (p.Val262Phe) n.901G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118491T>A | CA7060157 | F7 | c.818T>A (p.Val273Asp) c.884T>A (p.Val295Asp) c.632T>A (p.Val211Asp) n.905T>A c.677T>A (p.Val226Asp) c.926T>A (p.Val309Asp) c.740T>A (p.Val247Asp) c.578T>A (p.Val193Asp) c.887T>A (p.Val296Asp) c.722T>A (p.Val241Asp) c.971T>A (p.Val324Asp) c.785T>A (p.Val262Asp) n.902T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118491T>C | CA388785922 | F7 | c.818T>C (p.Val273Ala) c.884T>C (p.Val295Ala) c.632T>C (p.Val211Ala) n.905T>C c.677T>C (p.Val226Ala) c.926T>C (p.Val309Ala) c.740T>C (p.Val247Ala) c.578T>C (p.Val193Ala) c.887T>C (p.Val296Ala) c.722T>C (p.Val241Ala) c.971T>C (p.Val324Ala) c.785T>C (p.Val262Ala) n.902T>C | gnomAD v4 |
13 | g.113118491T>G | CA388785921 | F7 | c.818T>G (p.Val273Gly) c.884T>G (p.Val295Gly) c.632T>G (p.Val211Gly) n.905T>G c.677T>G (p.Val226Gly) c.926T>G (p.Val309Gly) c.740T>G (p.Val247Gly) c.578T>G (p.Val193Gly) c.887T>G (p.Val296Gly) c.722T>G (p.Val241Gly) c.971T>G (p.Val324Gly) c.785T>G (p.Val262Gly) n.902T>G | |
13 | g.113118491T= | CA2018007886 | F7 | c.818T= (p.Val273=) c.884T= (p.Val295=) c.632T= (p.Val211=) n.905T= c.677T= (p.Val226=) c.926T= (p.Val309=) c.740T= (p.Val247=) c.578T= (p.Val193=) c.887T= (p.Val296=) c.722T= (p.Val241=) c.971T= (p.Val324=) c.785T= (p.Val262=) n.902T= | |
13 | g.113118492C>A | CA485423855 | F7 | c.819C>A (p.Val273=) c.885C>A (p.Val295=) c.633C>A (p.Val211=) n.906C>A c.678C>A (p.Val226=) c.927C>A (p.Val309=) c.741C>A (p.Val247=) c.579C>A (p.Val193=) c.888C>A (p.Val296=) c.723C>A (p.Val241=) c.972C>A (p.Val324=) c.786C>A (p.Val262=) n.903C>A | |
13 | g.113118492C>G | CA485423856 | F7 | c.819C>G (p.Val273=) c.885C>G (p.Val295=) c.633C>G (p.Val211=) n.906C>G c.678C>G (p.Val226=) c.927C>G (p.Val309=) c.741C>G (p.Val247=) c.579C>G (p.Val193=) c.888C>G (p.Val296=) c.723C>G (p.Val241=) c.972C>G (p.Val324=) c.786C>G (p.Val262=) n.903C>G | |
13 | g.113118492C>T | CA485423857 | F7 | c.819C>T (p.Val273=) c.885C>T (p.Val295=) c.633C>T (p.Val211=) n.906C>T c.678C>T (p.Val226=) c.927C>T (p.Val309=) c.741C>T (p.Val247=) c.579C>T (p.Val193=) c.888C>T (p.Val296=) c.723C>T (p.Val241=) c.972C>T (p.Val324=) c.786C>T (p.Val262=) n.903C>T | |
13 | g.113118493C>A | CA388785923 | F7 | c.820C>A (p.Pro274Thr) c.886C>A (p.Pro296Thr) c.634C>A (p.Pro212Thr) n.907C>A c.679C>A (p.Pro227Thr) c.928C>A (p.Pro310Thr) c.742C>A (p.Pro248Thr) c.580C>A (p.Pro194Thr) c.889C>A (p.Pro297Thr) c.724C>A (p.Pro242Thr) c.973C>A (p.Pro325Thr) c.787C>A (p.Pro263Thr) n.904C>A | |
13 | g.113118493C= | CA2120141930 | F7 | c.820C= (p.Pro274=) c.886C= (p.Pro296=) c.634C= (p.Pro212=) n.907C= c.679C= (p.Pro227=) c.928C= (p.Pro310=) c.742C= (p.Pro248=) c.580C= (p.Pro194=) c.889C= (p.Pro297=) c.724C= (p.Pro242=) c.973C= (p.Pro325=) c.787C= (p.Pro263=) n.904C= | |
13 | g.113118493C>G | CA388785924 | F7 | c.820C>G (p.Pro274Ala) c.886C>G (p.Pro296Ala) c.634C>G (p.Pro212Ala) n.907C>G c.679C>G (p.Pro227Ala) c.928C>G (p.Pro310Ala) c.742C>G (p.Pro248Ala) c.580C>G (p.Pro194Ala) c.889C>G (p.Pro297Ala) c.724C>G (p.Pro242Ala) c.973C>G (p.Pro325Ala) c.787C>G (p.Pro263Ala) n.904C>G | |
13 | g.113118493C>T | CA388785925 | F7 | c.820C>T (p.Pro274Ser) c.886C>T (p.Pro296Ser) c.634C>T (p.Pro212Ser) n.907C>T c.679C>T (p.Pro227Ser) c.928C>T (p.Pro310Ser) c.742C>T (p.Pro248Ser) c.580C>T (p.Pro194Ser) c.889C>T (p.Pro297Ser) c.724C>T (p.Pro242Ser) c.973C>T (p.Pro325Ser) c.787C>T (p.Pro263Ser) n.904C>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118494C>A | CA388785926 | F7 | c.821C>A (p.Pro274Gln) c.887C>A (p.Pro296Gln) c.635C>A (p.Pro212Gln) n.908C>A c.680C>A (p.Pro227Gln) c.929C>A (p.Pro310Gln) c.743C>A (p.Pro248Gln) c.581C>A (p.Pro194Gln) c.890C>A (p.Pro297Gln) c.725C>A (p.Pro242Gln) c.974C>A (p.Pro325Gln) c.788C>A (p.Pro263Gln) n.905C>A | gnomAD v4 |
13 | g.113118494C= | CA2120141933 | F7 | c.821C= (p.Pro274=) c.887C= (p.Pro296=) c.635C= (p.Pro212=) n.908C= c.680C= (p.Pro227=) c.929C= (p.Pro310=) c.743C= (p.Pro248=) c.581C= (p.Pro194=) c.890C= (p.Pro297=) c.725C= (p.Pro242=) c.974C= (p.Pro325=) c.788C= (p.Pro263=) n.905C= | |
13 | g.113118494C>G | CA388785927 | F7 | c.821C>G (p.Pro274Arg) c.887C>G (p.Pro296Arg) c.635C>G (p.Pro212Arg) n.908C>G c.680C>G (p.Pro227Arg) c.929C>G (p.Pro310Arg) c.743C>G (p.Pro248Arg) c.581C>G (p.Pro194Arg) c.890C>G (p.Pro297Arg) c.725C>G (p.Pro242Arg) c.974C>G (p.Pro325Arg) c.788C>G (p.Pro263Arg) n.905C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118494C>T | CA7060158 | F7 | c.821C>T (p.Pro274Leu) c.887C>T (p.Pro296Leu) c.635C>T (p.Pro212Leu) n.908C>T c.680C>T (p.Pro227Leu) c.929C>T (p.Pro310Leu) c.743C>T (p.Pro248Leu) c.581C>T (p.Pro194Leu) c.890C>T (p.Pro297Leu) c.725C>T (p.Pro242Leu) c.974C>T (p.Pro325Leu) c.788C>T (p.Pro263Leu) n.905C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118495G>A | CA7060159 | F7 | c.822G>A (p.Pro274=) c.888G>A (p.Pro296=) c.636G>A (p.Pro212=) n.909G>A c.681G>A (p.Pro227=) c.930G>A (p.Pro310=) c.744G>A (p.Pro248=) c.582G>A (p.Pro194=) c.891G>A (p.Pro297=) c.726G>A (p.Pro242=) c.975G>A (p.Pro325=) c.789G>A (p.Pro263=) n.906G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118495G>C | CA485423858 | F7 | c.822G>C (p.Pro274=) c.888G>C (p.Pro296=) c.636G>C (p.Pro212=) n.909G>C c.681G>C (p.Pro227=) c.930G>C (p.Pro310=) c.744G>C (p.Pro248=) c.582G>C (p.Pro194=) c.891G>C (p.Pro297=) c.726G>C (p.Pro242=) c.975G>C (p.Pro325=) c.789G>C (p.Pro263=) n.906G>C | |
13 | g.113118495G= | CA2120141941 | F7 | c.822G= (p.Pro274=) c.888G= (p.Pro296=) c.636G= (p.Pro212=) n.909G= c.681G= (p.Pro227=) c.930G= (p.Pro310=) c.744G= (p.Pro248=) c.582G= (p.Pro194=) c.891G= (p.Pro297=) c.726G= (p.Pro242=) c.975G= (p.Pro325=) c.789G= (p.Pro263=) n.906G= | |
13 | g.113118495G>T | CA485423859 | F7 | c.822G>T (p.Pro274=) c.888G>T (p.Pro296=) c.636G>T (p.Pro212=) n.909G>T c.681G>T (p.Pro227=) c.930G>T (p.Pro310=) c.744G>T (p.Pro248=) c.582G>T (p.Pro194=) c.891G>T (p.Pro297=) c.726G>T (p.Pro242=) c.975G>T (p.Pro325=) c.789G>T (p.Pro263=) n.906G>T | gnomAD v4 |
13 | g.113118496G>A | CA388785928 | F7 | c.823G>A (p.Gly275Ser) c.889G>A (p.Gly297Ser) c.637G>A (p.Gly213Ser) n.910G>A c.682G>A (p.Gly228Ser) c.931G>A (p.Gly311Ser) c.745G>A (p.Gly249Ser) c.583G>A (p.Gly195Ser) c.892G>A (p.Gly298Ser) c.727G>A (p.Gly243Ser) c.976G>A (p.Gly326Ser) c.790G>A (p.Gly264Ser) n.907G>A | gnomAD v4 |
13 | g.113118496G>C | CA388785929 | F7 | c.823G>C (p.Gly275Arg) c.889G>C (p.Gly297Arg) c.637G>C (p.Gly213Arg) n.910G>C c.682G>C (p.Gly228Arg) c.931G>C (p.Gly311Arg) c.745G>C (p.Gly249Arg) c.583G>C (p.Gly195Arg) c.892G>C (p.Gly298Arg) c.727G>C (p.Gly243Arg) c.976G>C (p.Gly326Arg) c.790G>C (p.Gly264Arg) n.907G>C | |
13 | g.113118496G>T | CA388785930 | F7 | c.823G>T (p.Gly275Cys) c.889G>T (p.Gly297Cys) c.637G>T (p.Gly213Cys) n.910G>T c.682G>T (p.Gly228Cys) c.931G>T (p.Gly311Cys) c.745G>T (p.Gly249Cys) c.583G>T (p.Gly195Cys) c.892G>T (p.Gly298Cys) c.727G>T (p.Gly243Cys) c.976G>T (p.Gly326Cys) c.790G>T (p.Gly264Cys) n.907G>T | |
13 | g.113118497G>A | CA388785931 | F7 | c.824G>A (p.Gly275Asp) c.890G>A (p.Gly297Asp) c.638G>A (p.Gly213Asp) n.911G>A c.683G>A (p.Gly228Asp) c.932G>A (p.Gly311Asp) c.746G>A (p.Gly249Asp) c.584G>A (p.Gly195Asp) c.893G>A (p.Gly298Asp) c.728G>A (p.Gly243Asp) c.977G>A (p.Gly326Asp) c.791G>A (p.Gly264Asp) n.908G>A | gnomAD v4 |
13 | g.113118497G>C | CA388785932 | F7 | c.824G>C (p.Gly275Ala) c.890G>C (p.Gly297Ala) c.638G>C (p.Gly213Ala) n.911G>C c.683G>C (p.Gly228Ala) c.932G>C (p.Gly311Ala) c.746G>C (p.Gly249Ala) c.584G>C (p.Gly195Ala) c.893G>C (p.Gly298Ala) c.728G>C (p.Gly243Ala) c.977G>C (p.Gly326Ala) c.791G>C (p.Gly264Ala) n.908G>C | |
13 | g.113118497G>T | CA388785933 | F7 | c.824G>T (p.Gly275Val) c.890G>T (p.Gly297Val) c.638G>T (p.Gly213Val) n.911G>T c.683G>T (p.Gly228Val) c.932G>T (p.Gly311Val) c.746G>T (p.Gly249Val) c.584G>T (p.Gly195Val) c.893G>T (p.Gly298Val) c.728G>T (p.Gly243Val) c.977G>T (p.Gly326Val) c.791G>T (p.Gly264Val) n.908G>T | gnomAD v4 |
13 | g.113118498C>A | CA485423860 | F7 | c.825C>A (p.Gly275=) c.891C>A (p.Gly297=) c.639C>A (p.Gly213=) n.912C>A c.684C>A (p.Gly228=) c.933C>A (p.Gly311=) c.747C>A (p.Gly249=) c.585C>A (p.Gly195=) c.894C>A (p.Gly298=) c.729C>A (p.Gly243=) c.978C>A (p.Gly326=) c.792C>A (p.Gly264=) n.909C>A | gnomAD v4 |
13 | g.113118498C>G | CA485423862 | F7 | c.825C>G (p.Gly275=) c.891C>G (p.Gly297=) c.639C>G (p.Gly213=) n.912C>G c.684C>G (p.Gly228=) c.933C>G (p.Gly311=) c.747C>G (p.Gly249=) c.585C>G (p.Gly195=) c.894C>G (p.Gly298=) c.729C>G (p.Gly243=) c.978C>G (p.Gly326=) c.792C>G (p.Gly264=) n.909C>G | |
13 | g.113118498C>T | CA485423861 | F7 | c.825C>T (p.Gly275=) c.891C>T (p.Gly297=) c.639C>T (p.Gly213=) n.912C>T c.684C>T (p.Gly228=) c.933C>T (p.Gly311=) c.747C>T (p.Gly249=) c.585C>T (p.Gly195=) c.894C>T (p.Gly298=) c.729C>T (p.Gly243=) c.978C>T (p.Gly326=) c.792C>T (p.Gly264=) n.909C>T | gnomAD v4 |
13 | g.113118499A>C | CA388785935 | F7 | c.826A>C (p.Thr276Pro) c.892A>C (p.Thr298Pro) c.640A>C (p.Thr214Pro) n.913A>C c.685A>C (p.Thr229Pro) c.934A>C (p.Thr312Pro) c.748A>C (p.Thr250Pro) c.586A>C (p.Thr196Pro) c.895A>C (p.Thr299Pro) c.730A>C (p.Thr244Pro) c.979A>C (p.Thr327Pro) c.793A>C (p.Thr265Pro) n.910A>C | |
13 | g.113118499A>G | CA388785936 | F7 | c.826A>G (p.Thr276Ala) c.892A>G (p.Thr298Ala) c.640A>G (p.Thr214Ala) n.913A>G c.685A>G (p.Thr229Ala) c.934A>G (p.Thr312Ala) c.748A>G (p.Thr250Ala) c.586A>G (p.Thr196Ala) c.895A>G (p.Thr299Ala) c.730A>G (p.Thr244Ala) c.979A>G (p.Thr327Ala) c.793A>G (p.Thr265Ala) n.910A>G | gnomAD v4 |
13 | g.113118499A>T | CA388785934 | F7 | c.826A>T (p.Thr276Ser) c.892A>T (p.Thr298Ser) c.640A>T (p.Thr214Ser) n.913A>T c.685A>T (p.Thr229Ser) c.934A>T (p.Thr312Ser) c.748A>T (p.Thr250Ser) c.586A>T (p.Thr196Ser) c.895A>T (p.Thr299Ser) c.730A>T (p.Thr244Ser) c.979A>T (p.Thr327Ser) c.793A>T (p.Thr265Ser) n.910A>T | |
13 | g.113118500C>A | CA256461522 | F7 | c.827C>A (p.Thr276Asn) c.893C>A (p.Thr298Asn) c.641C>A (p.Thr214Asn) n.914C>A c.686C>A (p.Thr229Asn) c.935C>A (p.Thr312Asn) c.749C>A (p.Thr250Asn) c.587C>A (p.Thr196Asn) c.896C>A (p.Thr299Asn) c.731C>A (p.Thr244Asn) c.980C>A (p.Thr327Asn) c.794C>A (p.Thr265Asn) n.911C>A | dbSNP |
13 | g.113118500C= | CA2120141945 | F7 | c.827C= (p.Thr276=) c.893C= (p.Thr298=) c.641C= (p.Thr214=) n.914C= c.686C= (p.Thr229=) c.935C= (p.Thr312=) c.749C= (p.Thr250=) c.587C= (p.Thr196=) c.896C= (p.Thr299=) c.731C= (p.Thr244=) c.980C= (p.Thr327=) c.794C= (p.Thr265=) n.911C= | |
13 | g.113118500C>G | CA388785937 | F7 | c.827C>G (p.Thr276Ser) c.893C>G (p.Thr298Ser) c.641C>G (p.Thr214Ser) n.914C>G c.686C>G (p.Thr229Ser) c.935C>G (p.Thr312Ser) c.749C>G (p.Thr250Ser) c.587C>G (p.Thr196Ser) c.896C>G (p.Thr299Ser) c.731C>G (p.Thr244Ser) c.980C>G (p.Thr327Ser) c.794C>G (p.Thr265Ser) n.911C>G | |
13 | g.113118500C>T | CA388785938 | F7 | c.827C>T (p.Thr276Ile) c.893C>T (p.Thr298Ile) c.641C>T (p.Thr214Ile) n.914C>T c.686C>T (p.Thr229Ile) c.935C>T (p.Thr312Ile) c.749C>T (p.Thr250Ile) c.587C>T (p.Thr196Ile) c.896C>T (p.Thr299Ile) c.731C>T (p.Thr244Ile) c.980C>T (p.Thr327Ile) c.794C>T (p.Thr265Ile) n.911C>T | |
13 | g.113118501C>A | CA485423864 | F7 | c.828C>A (p.Thr276=) c.894C>A (p.Thr298=) c.642C>A (p.Thr214=) n.915C>A c.687C>A (p.Thr229=) c.936C>A (p.Thr312=) c.750C>A (p.Thr250=) c.588C>A (p.Thr196=) c.897C>A (p.Thr299=) c.732C>A (p.Thr244=) c.981C>A (p.Thr327=) c.795C>A (p.Thr265=) n.912C>A | |
13 | g.113118501C= | CA2018007884 | F7 | c.828C= (p.Thr276=) c.894C= (p.Thr298=) c.642C= (p.Thr214=) n.915C= c.687C= (p.Thr229=) c.936C= (p.Thr312=) c.750C= (p.Thr250=) c.588C= (p.Thr196=) c.897C= (p.Thr299=) c.732C= (p.Thr244=) c.981C= (p.Thr327=) c.795C= (p.Thr265=) n.912C= | |
13 | g.113118501C>G | CA485423863 | F7 | c.828C>G (p.Thr276=) c.894C>G (p.Thr298=) c.642C>G (p.Thr214=) n.915C>G c.687C>G (p.Thr229=) c.936C>G (p.Thr312=) c.750C>G (p.Thr250=) c.588C>G (p.Thr196=) c.897C>G (p.Thr299=) c.732C>G (p.Thr244=) c.981C>G (p.Thr327=) c.795C>G (p.Thr265=) n.912C>G | |
13 | g.113118501C>T | CA256461525 | F7 | c.828C>T (p.Thr276=) c.894C>T (p.Thr298=) c.642C>T (p.Thr214=) n.915C>T c.687C>T (p.Thr229=) c.936C>T (p.Thr312=) c.750C>T (p.Thr250=) c.588C>T (p.Thr196=) c.897C>T (p.Thr299=) c.732C>T (p.Thr244=) c.981C>T (p.Thr327=) c.795C>T (p.Thr265=) n.912C>T | dbSNP gnomAD v4 |
13 | g.113118502A= | CA2120141953 | F7 | c.829A= (p.Thr277=) c.895A= (p.Thr299=) c.643A= (p.Thr215=) n.916A= c.688A= (p.Thr230=) c.937A= (p.Thr313=) c.751A= (p.Thr251=) c.589A= (p.Thr197=) c.898A= (p.Thr300=) c.733A= (p.Thr245=) c.982A= (p.Thr328=) c.796A= (p.Thr266=) n.913A= | |
13 | g.113118502A>C | CA388785939 | F7 | c.829A>C (p.Thr277Pro) c.895A>C (p.Thr299Pro) c.643A>C (p.Thr215Pro) n.916A>C c.688A>C (p.Thr230Pro) c.937A>C (p.Thr313Pro) c.751A>C (p.Thr251Pro) c.589A>C (p.Thr197Pro) c.898A>C (p.Thr300Pro) c.733A>C (p.Thr245Pro) c.982A>C (p.Thr328Pro) c.796A>C (p.Thr266Pro) n.913A>C | dbSNP |
13 | g.113118502A>G | CA388785940 | F7 | c.829A>G (p.Thr277Ala) c.895A>G (p.Thr299Ala) c.643A>G (p.Thr215Ala) n.916A>G c.688A>G (p.Thr230Ala) c.937A>G (p.Thr313Ala) c.751A>G (p.Thr251Ala) c.589A>G (p.Thr197Ala) c.898A>G (p.Thr300Ala) c.733A>G (p.Thr245Ala) c.982A>G (p.Thr328Ala) c.796A>G (p.Thr266Ala) n.913A>G | |
13 | g.113118502A>T | CA388785941 | F7 | c.829A>T (p.Thr277Ser) c.895A>T (p.Thr299Ser) c.643A>T (p.Thr215Ser) n.916A>T c.688A>T (p.Thr230Ser) c.937A>T (p.Thr313Ser) c.751A>T (p.Thr251Ser) c.589A>T (p.Thr197Ser) c.898A>T (p.Thr300Ser) c.733A>T (p.Thr245Ser) c.982A>T (p.Thr328Ser) c.796A>T (p.Thr266Ser) n.913A>T | |
13 | g.113118503C>A | CA388785942 | F7 | c.830C>A (p.Thr277Asn) c.896C>A (p.Thr299Asn) c.644C>A (p.Thr215Asn) n.917C>A c.689C>A (p.Thr230Asn) c.938C>A (p.Thr313Asn) c.752C>A (p.Thr251Asn) c.590C>A (p.Thr197Asn) c.899C>A (p.Thr300Asn) c.734C>A (p.Thr245Asn) c.983C>A (p.Thr328Asn) c.797C>A (p.Thr266Asn) n.914C>A | gnomAD v4 |
13 | g.113118503C= | CA2120141955 | F7 | c.830C= (p.Thr277=) c.896C= (p.Thr299=) c.644C= (p.Thr215=) n.917C= c.689C= (p.Thr230=) c.938C= (p.Thr313=) c.752C= (p.Thr251=) c.590C= (p.Thr197=) c.899C= (p.Thr300=) c.734C= (p.Thr245=) c.983C= (p.Thr328=) c.797C= (p.Thr266=) n.914C= | |
13 | g.113118503C>G | CA388785943 | F7 | c.830C>G (p.Thr277Ser) c.896C>G (p.Thr299Ser) c.644C>G (p.Thr215Ser) n.917C>G c.689C>G (p.Thr230Ser) c.938C>G (p.Thr313Ser) c.752C>G (p.Thr251Ser) c.590C>G (p.Thr197Ser) c.899C>G (p.Thr300Ser) c.734C>G (p.Thr245Ser) c.983C>G (p.Thr328Ser) c.797C>G (p.Thr266Ser) n.914C>G | |
13 | g.113118503C>T | CA256461528 | F7 | c.830C>T (p.Thr277Ile) c.896C>T (p.Thr299Ile) c.644C>T (p.Thr215Ile) n.917C>T c.689C>T (p.Thr230Ile) c.938C>T (p.Thr313Ile) c.752C>T (p.Thr251Ile) c.590C>T (p.Thr197Ile) c.899C>T (p.Thr300Ile) c.734C>T (p.Thr245Ile) c.983C>T (p.Thr328Ile) c.797C>T (p.Thr266Ile) n.914C>T | dbSNP |
13 | g.113118504C>A | CA485423865 | F7 | c.831C>A (p.Thr277=) c.897C>A (p.Thr299=) c.645C>A (p.Thr215=) n.918C>A c.690C>A (p.Thr230=) c.939C>A (p.Thr313=) c.753C>A (p.Thr251=) c.591C>A (p.Thr197=) c.900C>A (p.Thr300=) c.735C>A (p.Thr245=) c.984C>A (p.Thr328=) c.798C>A (p.Thr266=) n.915C>A | |
13 | g.113118504C>G | CA485423866 | F7 | c.831C>G (p.Thr277=) c.897C>G (p.Thr299=) c.645C>G (p.Thr215=) n.918C>G c.690C>G (p.Thr230=) c.939C>G (p.Thr313=) c.753C>G (p.Thr251=) c.591C>G (p.Thr197=) c.900C>G (p.Thr300=) c.735C>G (p.Thr245=) c.984C>G (p.Thr328=) c.798C>G (p.Thr266=) n.915C>G | gnomAD v4 |
13 | g.113118504C>T | CA485423867 | F7 | c.831C>T (p.Thr277=) c.897C>T (p.Thr299=) c.645C>T (p.Thr215=) n.918C>T c.690C>T (p.Thr230=) c.939C>T (p.Thr313=) c.753C>T (p.Thr251=) c.591C>T (p.Thr197=) c.900C>T (p.Thr300=) c.735C>T (p.Thr245=) c.984C>T (p.Thr328=) c.798C>T (p.Thr266=) n.915C>T | |
13 | g.113118505A>C | CA388785944 | F7 | c.832A>C (p.Asn278His) c.898A>C (p.Asn300His) c.646A>C (p.Asn216His) n.919A>C c.691A>C (p.Asn231His) c.940A>C (p.Asn314His) c.754A>C (p.Asn252His) c.592A>C (p.Asn198His) c.901A>C (p.Asn301His) c.736A>C (p.Asn246His) c.985A>C (p.Asn329His) c.799A>C (p.Asn267His) n.916A>C | |
13 | g.113118505A>G | CA388785945 | F7 | c.832A>G (p.Asn278Asp) c.898A>G (p.Asn300Asp) c.646A>G (p.Asn216Asp) n.919A>G c.691A>G (p.Asn231Asp) c.940A>G (p.Asn314Asp) c.754A>G (p.Asn252Asp) c.592A>G (p.Asn198Asp) c.901A>G (p.Asn301Asp) c.736A>G (p.Asn246Asp) c.985A>G (p.Asn329Asp) c.799A>G (p.Asn267Asp) n.916A>G | |
13 | g.113118505A>T | CA388785946 | F7 | c.832A>T (p.Asn278Tyr) c.898A>T (p.Asn300Tyr) c.646A>T (p.Asn216Tyr) n.919A>T c.691A>T (p.Asn231Tyr) c.940A>T (p.Asn314Tyr) c.754A>T (p.Asn252Tyr) c.592A>T (p.Asn198Tyr) c.901A>T (p.Asn301Tyr) c.736A>T (p.Asn246Tyr) c.985A>T (p.Asn329Tyr) c.799A>T (p.Asn267Tyr) n.916A>T | |
13 | g.113118506A>C | CA388785949 | F7 | c.833A>C (p.Asn278Thr) c.899A>C (p.Asn300Thr) c.647A>C (p.Asn216Thr) n.920A>C c.692A>C (p.Asn231Thr) c.941A>C (p.Asn314Thr) c.755A>C (p.Asn252Thr) c.593A>C (p.Asn198Thr) c.902A>C (p.Asn301Thr) c.737A>C (p.Asn246Thr) c.986A>C (p.Asn329Thr) c.800A>C (p.Asn267Thr) n.917A>C | |
13 | g.113118506A>G | CA388785948 | F7 | c.833A>G (p.Asn278Ser) c.899A>G (p.Asn300Ser) c.647A>G (p.Asn216Ser) n.920A>G c.692A>G (p.Asn231Ser) c.941A>G (p.Asn314Ser) c.755A>G (p.Asn252Ser) c.593A>G (p.Asn198Ser) c.902A>G (p.Asn301Ser) c.737A>G (p.Asn246Ser) c.986A>G (p.Asn329Ser) c.800A>G (p.Asn267Ser) n.917A>G | |
13 | g.113118506A>T | CA388785947 | F7 | c.833A>T (p.Asn278Ile) c.899A>T (p.Asn300Ile) c.647A>T (p.Asn216Ile) n.920A>T c.692A>T (p.Asn231Ile) c.941A>T (p.Asn314Ile) c.755A>T (p.Asn252Ile) c.593A>T (p.Asn198Ile) c.902A>T (p.Asn301Ile) c.737A>T (p.Asn246Ile) c.986A>T (p.Asn329Ile) c.800A>T (p.Asn267Ile) n.917A>T | |
13 | g.113118507C>A | CA388785950 | F7 | c.834C>A (p.Asn278Lys) c.900C>A (p.Asn300Lys) c.648C>A (p.Asn216Lys) n.921C>A c.693C>A (p.Asn231Lys) c.942C>A (p.Asn314Lys) c.756C>A (p.Asn252Lys) c.594C>A (p.Asn198Lys) c.903C>A (p.Asn301Lys) c.738C>A (p.Asn246Lys) c.987C>A (p.Asn329Lys) c.801C>A (p.Asn267Lys) n.918C>A | dbSNP gnomAD v4 |
13 | g.113118507C= | CA2120141959 | F7 | c.834C= (p.Asn278=) c.900C= (p.Asn300=) c.648C= (p.Asn216=) n.921C= c.693C= (p.Asn231=) c.942C= (p.Asn314=) c.756C= (p.Asn252=) c.594C= (p.Asn198=) c.903C= (p.Asn301=) c.738C= (p.Asn246=) c.987C= (p.Asn329=) c.801C= (p.Asn267=) n.918C= | |
13 | g.113118507C>G | CA388785951 | F7 | c.834C>G (p.Asn278Lys) c.900C>G (p.Asn300Lys) c.648C>G (p.Asn216Lys) n.921C>G c.693C>G (p.Asn231Lys) c.942C>G (p.Asn314Lys) c.756C>G (p.Asn252Lys) c.594C>G (p.Asn198Lys) c.903C>G (p.Asn301Lys) c.738C>G (p.Asn246Lys) c.987C>G (p.Asn329Lys) c.801C>G (p.Asn267Lys) n.918C>G | |
13 | g.113118507C>T | CA485423868 | F7 | c.834C>T (p.Asn278=) c.900C>T (p.Asn300=) c.648C>T (p.Asn216=) n.921C>T c.693C>T (p.Asn231=) c.942C>T (p.Asn314=) c.756C>T (p.Asn252=) c.594C>T (p.Asn198=) c.903C>T (p.Asn301=) c.738C>T (p.Asn246=) c.987C>T (p.Asn329=) c.801C>T (p.Asn267=) n.918C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118508C>A | CA388785952 | F7 | c.835C>A (p.His279Asn) c.901C>A (p.His301Asn) c.649C>A (p.His217Asn) n.922C>A c.694C>A (p.His232Asn) c.943C>A (p.His315Asn) c.757C>A (p.His253Asn) c.595C>A (p.His199Asn) c.904C>A (p.His302Asn) c.739C>A (p.His247Asn) c.988C>A (p.His330Asn) c.802C>A (p.His268Asn) n.919C>A | |
13 | g.113118508C= | CA2120141964 | F7 | c.835C= (p.His279=) c.901C= (p.His301=) c.649C= (p.His217=) n.922C= c.694C= (p.His232=) c.943C= (p.His315=) c.757C= (p.His253=) c.595C= (p.His199=) c.904C= (p.His302=) c.739C= (p.His247=) c.988C= (p.His330=) c.802C= (p.His268=) n.919C= | |
13 | g.113118508C>G | CA388785953 | F7 | c.835C>G (p.His279Asp) c.901C>G (p.His301Asp) c.649C>G (p.His217Asp) n.922C>G c.694C>G (p.His232Asp) c.943C>G (p.His315Asp) c.757C>G (p.His253Asp) c.595C>G (p.His199Asp) c.904C>G (p.His302Asp) c.739C>G (p.His247Asp) c.988C>G (p.His330Asp) c.802C>G (p.His268Asp) n.919C>G | |
13 | g.113118508C>T | CA7060160 | F7 | c.835C>T (p.His279Tyr) c.901C>T (p.His301Tyr) c.649C>T (p.His217Tyr) n.922C>T c.694C>T (p.His232Tyr) c.943C>T (p.His315Tyr) c.757C>T (p.His253Tyr) c.595C>T (p.His199Tyr) c.904C>T (p.His302Tyr) c.739C>T (p.His247Tyr) c.988C>T (p.His330Tyr) c.802C>T (p.His268Tyr) n.919C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118509A>C | CA388785954 | F7 | c.836A>C (p.His279Pro) c.902A>C (p.His301Pro) c.650A>C (p.His217Pro) n.923A>C c.695A>C (p.His232Pro) c.944A>C (p.His315Pro) c.758A>C (p.His253Pro) c.596A>C (p.His199Pro) c.905A>C (p.His302Pro) c.740A>C (p.His247Pro) c.989A>C (p.His330Pro) c.803A>C (p.His268Pro) n.920A>C | |
13 | g.113118509A>G | CA388785955 | F7 | c.836A>G (p.His279Arg) c.902A>G (p.His301Arg) c.650A>G (p.His217Arg) n.923A>G c.695A>G (p.His232Arg) c.944A>G (p.His315Arg) c.758A>G (p.His253Arg) c.596A>G (p.His199Arg) c.905A>G (p.His302Arg) c.740A>G (p.His247Arg) c.989A>G (p.His330Arg) c.803A>G (p.His268Arg) n.920A>G | |
13 | g.113118509A>T | CA388785956 | F7 | c.836A>T (p.His279Leu) c.902A>T (p.His301Leu) c.650A>T (p.His217Leu) n.923A>T c.695A>T (p.His232Leu) c.944A>T (p.His315Leu) c.758A>T (p.His253Leu) c.596A>T (p.His199Leu) c.905A>T (p.His302Leu) c.740A>T (p.His247Leu) c.989A>T (p.His330Leu) c.803A>T (p.His268Leu) n.920A>T | |
13 | g.113118510C>A | CA388785957 | F7 | c.837C>A (p.His279Gln) c.903C>A (p.His301Gln) c.651C>A (p.His217Gln) n.924C>A c.696C>A (p.His232Gln) c.945C>A (p.His315Gln) c.759C>A (p.His253Gln) c.597C>A (p.His199Gln) c.906C>A (p.His302Gln) c.741C>A (p.His247Gln) c.990C>A (p.His330Gln) c.804C>A (p.His268Gln) n.921C>A | |
13 | g.113118510C= | CA2120141969 | F7 | c.837C= (p.His279=) c.903C= (p.His301=) c.651C= (p.His217=) n.924C= c.696C= (p.His232=) c.945C= (p.His315=) c.759C= (p.His253=) c.597C= (p.His199=) c.906C= (p.His302=) c.741C= (p.His247=) c.990C= (p.His330=) c.804C= (p.His268=) n.921C= | |
13 | g.113118510C>G | CA388785958 | F7 | c.837C>G (p.His279Gln) c.903C>G (p.His301Gln) c.651C>G (p.His217Gln) n.924C>G c.696C>G (p.His232Gln) c.945C>G (p.His315Gln) c.759C>G (p.His253Gln) c.597C>G (p.His199Gln) c.906C>G (p.His302Gln) c.741C>G (p.His247Gln) c.990C>G (p.His330Gln) c.804C>G (p.His268Gln) n.921C>G | |
13 | g.113118510C>T | CA7060161 | F7 | c.837C>T (p.His279=) c.903C>T (p.His301=) c.651C>T (p.His217=) n.924C>T c.696C>T (p.His232=) c.945C>T (p.His315=) c.759C>T (p.His253=) c.597C>T (p.His199=) c.906C>T (p.His302=) c.741C>T (p.His247=) c.990C>T (p.His330=) c.804C>T (p.His268=) n.921C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113118511G>A | CA7060162 | F7 | c.838G>A (p.Asp280Asn) c.904G>A (p.Asp302Asn) c.652G>A (p.Asp218Asn) n.925G>A c.697G>A (p.Asp233Asn) c.946G>A (p.Asp316Asn) c.760G>A (p.Asp254Asn) c.598G>A (p.Asp200Asn) c.907G>A (p.Asp303Asn) c.742G>A (p.Asp248Asn) c.991G>A (p.Asp331Asn) c.805G>A (p.Asp269Asn) n.922G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118511G>C | CA388785959 | F7 | c.838G>C (p.Asp280His) c.904G>C (p.Asp302His) c.652G>C (p.Asp218His) n.925G>C c.697G>C (p.Asp233His) c.946G>C (p.Asp316His) c.760G>C (p.Asp254His) c.598G>C (p.Asp200His) c.907G>C (p.Asp303His) c.742G>C (p.Asp248His) c.991G>C (p.Asp331His) c.805G>C (p.Asp269His) n.922G>C | gnomAD v4 |
13 | g.113118511G= | CA2120141972 | F7 | c.838G= (p.Asp280=) c.904G= (p.Asp302=) c.652G= (p.Asp218=) n.925G= c.697G= (p.Asp233=) c.946G= (p.Asp316=) c.760G= (p.Asp254=) c.598G= (p.Asp200=) c.907G= (p.Asp303=) c.742G= (p.Asp248=) c.991G= (p.Asp331=) c.805G= (p.Asp269=) n.922G= | |
13 | g.113118511G>T | CA388785960 | F7 | c.838G>T (p.Asp280Tyr) c.904G>T (p.Asp302Tyr) c.652G>T (p.Asp218Tyr) n.925G>T c.697G>T (p.Asp233Tyr) c.946G>T (p.Asp316Tyr) c.760G>T (p.Asp254Tyr) c.598G>T (p.Asp200Tyr) c.907G>T (p.Asp303Tyr) c.742G>T (p.Asp248Tyr) c.991G>T (p.Asp331Tyr) c.805G>T (p.Asp269Tyr) n.922G>T | |
13 | g.113118512A>C | CA388785962 | F7 | c.839A>C (p.Asp280Ala) c.905A>C (p.Asp302Ala) c.653A>C (p.Asp218Ala) n.926A>C c.698A>C (p.Asp233Ala) c.947A>C (p.Asp316Ala) c.761A>C (p.Asp254Ala) c.599A>C (p.Asp200Ala) c.908A>C (p.Asp303Ala) c.743A>C (p.Asp248Ala) c.992A>C (p.Asp331Ala) c.806A>C (p.Asp269Ala) n.923A>C | |
13 | g.113118512A>G | CA388785963 | F7 | c.839A>G (p.Asp280Gly) c.905A>G (p.Asp302Gly) c.653A>G (p.Asp218Gly) n.926A>G c.698A>G (p.Asp233Gly) c.947A>G (p.Asp316Gly) c.761A>G (p.Asp254Gly) c.599A>G (p.Asp200Gly) c.908A>G (p.Asp303Gly) c.743A>G (p.Asp248Gly) c.992A>G (p.Asp331Gly) c.806A>G (p.Asp269Gly) n.923A>G | |
13 | g.113118512A>T | CA388785961 | F7 | c.839A>T (p.Asp280Val) c.905A>T (p.Asp302Val) c.653A>T (p.Asp218Val) n.926A>T c.698A>T (p.Asp233Val) c.947A>T (p.Asp316Val) c.761A>T (p.Asp254Val) c.599A>T (p.Asp200Val) c.908A>T (p.Asp303Val) c.743A>T (p.Asp248Val) c.992A>T (p.Asp331Val) c.806A>T (p.Asp269Val) n.923A>T | |
13 | g.113118513C>A | CA388785964 | F7 | c.840C>A (p.Asp280Glu) c.906C>A (p.Asp302Glu) c.654C>A (p.Asp218Glu) n.927C>A c.699C>A (p.Asp233Glu) c.948C>A (p.Asp316Glu) c.762C>A (p.Asp254Glu) c.600C>A (p.Asp200Glu) c.909C>A (p.Asp303Glu) c.744C>A (p.Asp248Glu) c.993C>A (p.Asp331Glu) c.807C>A (p.Asp269Glu) n.924C>A | |
13 | g.113118513C= | CA2120141978 | F7 | c.840C= (p.Asp280=) c.906C= (p.Asp302=) c.654C= (p.Asp218=) n.927C= c.699C= (p.Asp233=) c.948C= (p.Asp316=) c.762C= (p.Asp254=) c.600C= (p.Asp200=) c.909C= (p.Asp303=) c.744C= (p.Asp248=) c.993C= (p.Asp331=) c.807C= (p.Asp269=) n.924C= | |
13 | g.113118513C>G | CA388785965 | F7 | c.840C>G (p.Asp280Glu) c.906C>G (p.Asp302Glu) c.654C>G (p.Asp218Glu) n.927C>G c.699C>G (p.Asp233Glu) c.948C>G (p.Asp316Glu) c.762C>G (p.Asp254Glu) c.600C>G (p.Asp200Glu) c.909C>G (p.Asp303Glu) c.744C>G (p.Asp248Glu) c.993C>G (p.Asp331Glu) c.807C>G (p.Asp269Glu) n.924C>G | |
13 | g.113118513C>T | CA485423869 | F7 | c.840C>T (p.Asp280=) c.906C>T (p.Asp302=) c.654C>T (p.Asp218=) n.927C>T c.699C>T (p.Asp233=) c.948C>T (p.Asp316=) c.762C>T (p.Asp254=) c.600C>T (p.Asp200=) c.909C>T (p.Asp303=) c.744C>T (p.Asp248=) c.993C>T (p.Asp331=) c.807C>T (p.Asp269=) n.924C>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118514A= | CA2120141982 | F7 | c.841A= (p.Ile281=) c.907A= (p.Ile303=) c.655A= (p.Ile219=) n.928A= c.700A= (p.Ile234=) c.949A= (p.Ile317=) c.763A= (p.Ile255=) c.601A= (p.Ile201=) c.910A= (p.Ile304=) c.745A= (p.Ile249=) c.994A= (p.Ile332=) c.808A= (p.Ile270=) n.925A= | |
13 | g.113118514A>C | CA388785966 | F7 | c.841A>C (p.Ile281Leu) c.907A>C (p.Ile303Leu) c.655A>C (p.Ile219Leu) n.928A>C c.700A>C (p.Ile234Leu) c.949A>C (p.Ile317Leu) c.763A>C (p.Ile255Leu) c.601A>C (p.Ile201Leu) c.910A>C (p.Ile304Leu) c.745A>C (p.Ile249Leu) c.994A>C (p.Ile332Leu) c.808A>C (p.Ile270Leu) n.925A>C | |
13 | g.113118514A>G | CA388785967 | F7 | c.841A>G (p.Ile281Val) c.907A>G (p.Ile303Val) c.655A>G (p.Ile219Val) n.928A>G c.700A>G (p.Ile234Val) c.949A>G (p.Ile317Val) c.763A>G (p.Ile255Val) c.601A>G (p.Ile201Val) c.910A>G (p.Ile304Val) c.745A>G (p.Ile249Val) c.994A>G (p.Ile332Val) c.808A>G (p.Ile270Val) n.925A>G | gnomAD v4 |
13 | g.113118514A>T | CA388785968 | F7 | c.841A>T (p.Ile281Phe) c.907A>T (p.Ile303Phe) c.655A>T (p.Ile219Phe) n.928A>T c.700A>T (p.Ile234Phe) c.949A>T (p.Ile317Phe) c.763A>T (p.Ile255Phe) c.601A>T (p.Ile201Phe) c.910A>T (p.Ile304Phe) c.745A>T (p.Ile249Phe) c.994A>T (p.Ile332Phe) c.808A>T (p.Ile270Phe) n.925A>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113118515T>A | CA388785969 | F7 | c.842T>A (p.Ile281Asn) c.908T>A (p.Ile303Asn) c.656T>A (p.Ile219Asn) n.929T>A c.701T>A (p.Ile234Asn) c.950T>A (p.Ile317Asn) c.764T>A (p.Ile255Asn) c.602T>A (p.Ile201Asn) c.911T>A (p.Ile304Asn) c.746T>A (p.Ile249Asn) c.995T>A (p.Ile332Asn) c.809T>A (p.Ile270Asn) n.926T>A | |
13 | g.113118515T>C | CA388785970 | F7 | c.842T>C (p.Ile281Thr) c.908T>C (p.Ile303Thr) c.656T>C (p.Ile219Thr) n.929T>C c.701T>C (p.Ile234Thr) c.950T>C (p.Ile317Thr) c.764T>C (p.Ile255Thr) c.602T>C (p.Ile201Thr) c.911T>C (p.Ile304Thr) c.746T>C (p.Ile249Thr) c.995T>C (p.Ile332Thr) c.809T>C (p.Ile270Thr) n.926T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118515T>G | CA388785971 | F7 | c.842T>G (p.Ile281Ser) c.908T>G (p.Ile303Ser) c.656T>G (p.Ile219Ser) n.929T>G c.701T>G (p.Ile234Ser) c.950T>G (p.Ile317Ser) c.764T>G (p.Ile255Ser) c.602T>G (p.Ile201Ser) c.911T>G (p.Ile304Ser) c.746T>G (p.Ile249Ser) c.995T>G (p.Ile332Ser) c.809T>G (p.Ile270Ser) n.926T>G | |
13 | g.113118515T= | CA2120141984 | F7 | c.842T= (p.Ile281=) c.908T= (p.Ile303=) c.656T= (p.Ile219=) n.929T= c.701T= (p.Ile234=) c.950T= (p.Ile317=) c.764T= (p.Ile255=) c.602T= (p.Ile201=) c.911T= (p.Ile304=) c.746T= (p.Ile249=) c.995T= (p.Ile332=) c.809T= (p.Ile270=) n.926T= | |
13 | g.113118516C>A | CA485423870 | F7 | c.843C>A (p.Ile281=) c.909C>A (p.Ile303=) c.657C>A (p.Ile219=) n.930C>A c.702C>A (p.Ile234=) c.951C>A (p.Ile317=) c.765C>A (p.Ile255=) c.603C>A (p.Ile201=) c.912C>A (p.Ile304=) c.747C>A (p.Ile249=) c.996C>A (p.Ile332=) c.810C>A (p.Ile270=) n.927C>A | |
13 | g.113118516C= | CA2120141986 | F7 | c.843C= (p.Ile281=) c.909C= (p.Ile303=) c.657C= (p.Ile219=) n.930C= c.702C= (p.Ile234=) c.951C= (p.Ile317=) c.765C= (p.Ile255=) c.603C= (p.Ile201=) c.912C= (p.Ile304=) c.747C= (p.Ile249=) c.996C= (p.Ile332=) c.810C= (p.Ile270=) n.927C= | |
13 | g.113118516C>G | CA388785972 | F7 | c.843C>G (p.Ile281Met) c.909C>G (p.Ile303Met) c.657C>G (p.Ile219Met) n.930C>G c.702C>G (p.Ile234Met) c.951C>G (p.Ile317Met) c.765C>G (p.Ile255Met) c.603C>G (p.Ile201Met) c.912C>G (p.Ile304Met) c.747C>G (p.Ile249Met) c.996C>G (p.Ile332Met) c.810C>G (p.Ile270Met) n.927C>G | |
13 | g.113118516C>T | CA485423871 | F7 | c.843C>T (p.Ile281=) c.909C>T (p.Ile303=) c.657C>T (p.Ile219=) n.930C>T c.702C>T (p.Ile234=) c.951C>T (p.Ile317=) c.765C>T (p.Ile255=) c.603C>T (p.Ile201=) c.912C>T (p.Ile304=) c.747C>T (p.Ile249=) c.996C>T (p.Ile332=) c.810C>T (p.Ile270=) n.927C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118517G>A | CA7060163 | F7 | c.844G>A (p.Ala282Thr) c.910G>A (p.Ala304Thr) c.658G>A (p.Ala220Thr) n.931G>A c.703G>A (p.Ala235Thr) c.952G>A (p.Ala318Thr) c.766G>A (p.Ala256Thr) c.604G>A (p.Ala202Thr) c.913G>A (p.Ala305Thr) c.748G>A (p.Ala250Thr) c.997G>A (p.Ala333Thr) c.811G>A (p.Ala271Thr) n.928G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113118517G>C | CA388785973 | F7 | c.844G>C (p.Ala282Pro) c.910G>C (p.Ala304Pro) c.658G>C (p.Ala220Pro) n.931G>C c.703G>C (p.Ala235Pro) c.952G>C (p.Ala318Pro) c.766G>C (p.Ala256Pro) c.604G>C (p.Ala202Pro) c.913G>C (p.Ala305Pro) c.748G>C (p.Ala250Pro) c.997G>C (p.Ala333Pro) c.811G>C (p.Ala271Pro) n.928G>C | |
13 | g.113118517G= | CA2120141994 | F7 | c.844G= (p.Ala282=) c.910G= (p.Ala304=) c.658G= (p.Ala220=) n.931G= c.703G= (p.Ala235=) c.952G= (p.Ala318=) c.766G= (p.Ala256=) c.604G= (p.Ala202=) c.913G= (p.Ala305=) c.748G= (p.Ala250=) c.997G= (p.Ala333=) c.811G= (p.Ala271=) n.928G= | |
13 | g.113118517G>T | CA388785974 | F7 | c.844G>T (p.Ala282Ser) c.910G>T (p.Ala304Ser) c.658G>T (p.Ala220Ser) n.931G>T c.703G>T (p.Ala235Ser) c.952G>T (p.Ala318Ser) c.766G>T (p.Ala256Ser) c.604G>T (p.Ala202Ser) c.913G>T (p.Ala305Ser) c.748G>T (p.Ala250Ser) c.997G>T (p.Ala333Ser) c.811G>T (p.Ala271Ser) n.928G>T | gnomAD v4 |
13 | g.113118518C>A | CA388785975 | F7 | c.845C>A (p.Ala282Glu) c.911C>A (p.Ala304Glu) c.659C>A (p.Ala220Glu) n.932C>A c.704C>A (p.Ala235Glu) c.953C>A (p.Ala318Glu) c.767C>A (p.Ala256Glu) c.605C>A (p.Ala202Glu) c.914C>A (p.Ala305Glu) c.749C>A (p.Ala250Glu) c.998C>A (p.Ala333Glu) c.812C>A (p.Ala271Glu) n.929C>A | |
13 | g.113118518C= | CA2120141997 | F7 | c.845C= (p.Ala282=) c.911C= (p.Ala304=) c.659C= (p.Ala220=) n.932C= c.704C= (p.Ala235=) c.953C= (p.Ala318=) c.767C= (p.Ala256=) c.605C= (p.Ala202=) c.914C= (p.Ala305=) c.749C= (p.Ala250=) c.998C= (p.Ala333=) c.812C= (p.Ala271=) n.929C= | |
13 | g.113118518C>G | CA388785976 | F7 | c.845C>G (p.Ala282Gly) c.911C>G (p.Ala304Gly) c.659C>G (p.Ala220Gly) n.932C>G c.704C>G (p.Ala235Gly) c.953C>G (p.Ala318Gly) c.767C>G (p.Ala256Gly) c.605C>G (p.Ala202Gly) c.914C>G (p.Ala305Gly) c.749C>G (p.Ala250Gly) c.998C>G (p.Ala333Gly) c.812C>G (p.Ala271Gly) n.929C>G | |
13 | g.113118518C>T | CA7060164 | F7 | c.845C>T (p.Ala282Val) c.911C>T (p.Ala304Val) c.659C>T (p.Ala220Val) n.932C>T c.704C>T (p.Ala235Val) c.953C>T (p.Ala318Val) c.767C>T (p.Ala256Val) c.605C>T (p.Ala202Val) c.914C>T (p.Ala305Val) c.749C>T (p.Ala250Val) c.998C>T (p.Ala333Val) c.812C>T (p.Ala271Val) n.929C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118519G>A | CA7060165 | F7 | c.846G>A (p.Ala282=) c.912G>A (p.Ala304=) c.660G>A (p.Ala220=) n.933G>A c.705G>A (p.Ala235=) c.954G>A (p.Ala318=) c.768G>A (p.Ala256=) c.606G>A (p.Ala202=) c.915G>A (p.Ala305=) c.750G>A (p.Ala250=) c.999G>A (p.Ala333=) c.813G>A (p.Ala271=) n.930G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113118519G>C | CA7060166 | F7 | c.846G>C (p.Ala282=) c.912G>C (p.Ala304=) c.660G>C (p.Ala220=) n.933G>C c.705G>C (p.Ala235=) c.954G>C (p.Ala318=) c.768G>C (p.Ala256=) c.606G>C (p.Ala202=) c.915G>C (p.Ala305=) c.750G>C (p.Ala250=) c.999G>C (p.Ala333=) c.813G>C (p.Ala271=) n.930G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118519G= | CA2120142002 | F7 | c.846G= (p.Ala282=) c.912G= (p.Ala304=) c.660G= (p.Ala220=) n.933G= c.705G= (p.Ala235=) c.954G= (p.Ala318=) c.768G= (p.Ala256=) c.606G= (p.Ala202=) c.915G= (p.Ala305=) c.750G= (p.Ala250=) c.999G= (p.Ala333=) c.813G= (p.Ala271=) n.930G= | |
13 | g.113118519G>T | CA485423872 | F7 | c.846G>T (p.Ala282=) c.912G>T (p.Ala304=) c.660G>T (p.Ala220=) n.933G>T c.705G>T (p.Ala235=) c.954G>T (p.Ala318=) c.768G>T (p.Ala256=) c.606G>T (p.Ala202=) c.915G>T (p.Ala305=) c.750G>T (p.Ala250=) c.999G>T (p.Ala333=) c.813G>T (p.Ala271=) n.930G>T | |
13 | g.113118520C>A | CA388785977 | F7 | c.847C>A (p.Leu283Met) c.913C>A (p.Leu305Met) c.661C>A (p.Leu221Met) n.934C>A c.706C>A (p.Leu236Met) c.955C>A (p.Leu319Met) c.769C>A (p.Leu257Met) c.607C>A (p.Leu203Met) c.916C>A (p.Leu306Met) c.751C>A (p.Leu251Met) c.1000C>A (p.Leu334Met) c.814C>A (p.Leu272Met) n.931C>A | gnomAD v4 |
13 | g.113118520C>G | CA388785978 | F7 | c.847C>G (p.Leu283Val) c.913C>G (p.Leu305Val) c.661C>G (p.Leu221Val) n.934C>G c.706C>G (p.Leu236Val) c.955C>G (p.Leu319Val) c.769C>G (p.Leu257Val) c.607C>G (p.Leu203Val) c.916C>G (p.Leu306Val) c.751C>G (p.Leu251Val) c.1000C>G (p.Leu334Val) c.814C>G (p.Leu272Val) n.931C>G | |
13 | g.113118520C>T | CA485423873 | F7 | c.847C>T (p.Leu283=) c.913C>T (p.Leu305=) c.661C>T (p.Leu221=) n.934C>T c.706C>T (p.Leu236=) c.955C>T (p.Leu319=) c.769C>T (p.Leu257=) c.607C>T (p.Leu203=) c.916C>T (p.Leu306=) c.751C>T (p.Leu251=) c.1000C>T (p.Leu334=) c.814C>T (p.Leu272=) n.931C>T | |
13 | g.113118521T>A | CA388785981 | F7 | c.848T>A (p.Leu283Gln) c.914T>A (p.Leu305Gln) c.662T>A (p.Leu221Gln) n.935T>A c.707T>A (p.Leu236Gln) c.956T>A (p.Leu319Gln) c.770T>A (p.Leu257Gln) c.608T>A (p.Leu203Gln) c.917T>A (p.Leu306Gln) c.752T>A (p.Leu251Gln) c.1001T>A (p.Leu334Gln) c.815T>A (p.Leu272Gln) n.932T>A | |
13 | g.113118521T>C | CA388785980 | F7 | c.848T>C (p.Leu283Pro) c.914T>C (p.Leu305Pro) c.662T>C (p.Leu221Pro) n.935T>C c.707T>C (p.Leu236Pro) c.956T>C (p.Leu319Pro) c.770T>C (p.Leu257Pro) c.608T>C (p.Leu203Pro) c.917T>C (p.Leu306Pro) c.752T>C (p.Leu251Pro) c.1001T>C (p.Leu334Pro) c.815T>C (p.Leu272Pro) n.932T>C | |
13 | g.113118521T>G | CA388785979 | F7 | c.848T>G (p.Leu283Arg) c.914T>G (p.Leu305Arg) c.662T>G (p.Leu221Arg) n.935T>G c.707T>G (p.Leu236Arg) c.956T>G (p.Leu319Arg) c.770T>G (p.Leu257Arg) c.608T>G (p.Leu203Arg) c.917T>G (p.Leu306Arg) c.752T>G (p.Leu251Arg) c.1001T>G (p.Leu334Arg) c.815T>G (p.Leu272Arg) n.932T>G | |
13 | g.113118522G>A | CA485423874 | F7 | c.849G>A (p.Leu283=) c.915G>A (p.Leu305=) c.663G>A (p.Leu221=) n.936G>A c.708G>A (p.Leu236=) c.957G>A (p.Leu319=) c.771G>A (p.Leu257=) c.609G>A (p.Leu203=) c.918G>A (p.Leu306=) c.753G>A (p.Leu251=) c.1002G>A (p.Leu334=) c.816G>A (p.Leu272=) n.933G>A | |
13 | g.113118522G>C | CA485423875 | F7 | c.849G>C (p.Leu283=) c.915G>C (p.Leu305=) c.663G>C (p.Leu221=) n.936G>C c.708G>C (p.Leu236=) c.957G>C (p.Leu319=) c.771G>C (p.Leu257=) c.609G>C (p.Leu203=) c.918G>C (p.Leu306=) c.753G>C (p.Leu251=) c.1002G>C (p.Leu334=) c.816G>C (p.Leu272=) n.933G>C | |
13 | g.113118522G>T | CA485423876 | F7 | c.849G>T (p.Leu283=) c.915G>T (p.Leu305=) c.663G>T (p.Leu221=) n.936G>T c.708G>T (p.Leu236=) c.957G>T (p.Leu319=) c.771G>T (p.Leu257=) c.609G>T (p.Leu203=) c.918G>T (p.Leu306=) c.753G>T (p.Leu251=) c.1002G>T (p.Leu334=) c.816G>T (p.Leu272=) n.933G>T | |
13 | g.113118523C>A | CA388785982 | F7 | c.850C>A (p.Leu284Ile) c.916C>A (p.Leu306Ile) c.664C>A (p.Leu222Ile) n.937C>A c.709C>A (p.Leu237Ile) c.958C>A (p.Leu320Ile) c.772C>A (p.Leu258Ile) c.610C>A (p.Leu204Ile) c.919C>A (p.Leu307Ile) c.754C>A (p.Leu252Ile) c.1003C>A (p.Leu335Ile) c.817C>A (p.Leu273Ile) n.934C>A | |
13 | g.113118523C= | CA2120142004 | F7 | c.850C= (p.Leu284=) c.916C= (p.Leu306=) c.664C= (p.Leu222=) n.937C= c.709C= (p.Leu237=) c.958C= (p.Leu320=) c.772C= (p.Leu258=) c.610C= (p.Leu204=) c.919C= (p.Leu307=) c.754C= (p.Leu252=) c.1003C= (p.Leu335=) c.817C= (p.Leu273=) n.934C= | |
13 | g.113118523C>G | CA388785983 | F7 | c.850C>G (p.Leu284Val) c.916C>G (p.Leu306Val) c.664C>G (p.Leu222Val) n.937C>G c.709C>G (p.Leu237Val) c.958C>G (p.Leu320Val) c.772C>G (p.Leu258Val) c.610C>G (p.Leu204Val) c.919C>G (p.Leu307Val) c.754C>G (p.Leu252Val) c.1003C>G (p.Leu335Val) c.817C>G (p.Leu273Val) n.934C>G | |
13 | g.113118523C>T | CA256461537 | F7 | c.850C>T (p.Leu284Phe) c.916C>T (p.Leu306Phe) c.664C>T (p.Leu222Phe) n.937C>T c.709C>T (p.Leu237Phe) c.958C>T (p.Leu320Phe) c.772C>T (p.Leu258Phe) c.610C>T (p.Leu204Phe) c.919C>T (p.Leu307Phe) c.754C>T (p.Leu252Phe) c.1003C>T (p.Leu335Phe) c.817C>T (p.Leu273Phe) n.934C>T | dbSNP gnomAD v4 |
13 | g.113118524T>A | CA388785984 | F7 | c.851T>A (p.Leu284His) c.917T>A (p.Leu306His) c.665T>A (p.Leu222His) n.938T>A c.710T>A (p.Leu237His) c.959T>A (p.Leu320His) c.773T>A (p.Leu258His) c.611T>A (p.Leu204His) c.920T>A (p.Leu307His) c.755T>A (p.Leu252His) c.1004T>A (p.Leu335His) c.818T>A (p.Leu273His) n.935T>A | |
13 | g.113118524T>C | CA388785985 | F7 | c.851T>C (p.Leu284Pro) c.917T>C (p.Leu306Pro) c.665T>C (p.Leu222Pro) n.938T>C c.710T>C (p.Leu237Pro) c.959T>C (p.Leu320Pro) c.773T>C (p.Leu258Pro) c.611T>C (p.Leu204Pro) c.920T>C (p.Leu307Pro) c.755T>C (p.Leu252Pro) c.1004T>C (p.Leu335Pro) c.818T>C (p.Leu273Pro) n.935T>C | |
13 | g.113118524T>G | CA388785986 | F7 | c.851T>G (p.Leu284Arg) c.917T>G (p.Leu306Arg) c.665T>G (p.Leu222Arg) n.938T>G c.710T>G (p.Leu237Arg) c.959T>G (p.Leu320Arg) c.773T>G (p.Leu258Arg) c.611T>G (p.Leu204Arg) c.920T>G (p.Leu307Arg) c.755T>G (p.Leu252Arg) c.1004T>G (p.Leu335Arg) c.818T>G (p.Leu273Arg) n.935T>G | |
13 | g.113118525C>A | CA485423877 | F7 | c.852C>A (p.Leu284=) c.918C>A (p.Leu306=) c.666C>A (p.Leu222=) n.939C>A c.711C>A (p.Leu237=) c.960C>A (p.Leu320=) c.774C>A (p.Leu258=) c.612C>A (p.Leu204=) c.921C>A (p.Leu307=) c.756C>A (p.Leu252=) c.1005C>A (p.Leu335=) c.819C>A (p.Leu273=) n.936C>A | |
13 | g.113118525C>G | CA485423879 | F7 | c.852C>G (p.Leu284=) c.918C>G (p.Leu306=) c.666C>G (p.Leu222=) n.939C>G c.711C>G (p.Leu237=) c.960C>G (p.Leu320=) c.774C>G (p.Leu258=) c.612C>G (p.Leu204=) c.921C>G (p.Leu307=) c.756C>G (p.Leu252=) c.1005C>G (p.Leu335=) c.819C>G (p.Leu273=) n.936C>G | gnomAD v4 |
13 | g.113118525C>T | CA485423878 | F7 | c.852C>T (p.Leu284=) c.918C>T (p.Leu306=) c.666C>T (p.Leu222=) n.939C>T c.711C>T (p.Leu237=) c.960C>T (p.Leu320=) c.774C>T (p.Leu258=) c.612C>T (p.Leu204=) c.921C>T (p.Leu307=) c.756C>T (p.Leu252=) c.1005C>T (p.Leu335=) c.819C>T (p.Leu273=) n.936C>T | |
13 | g.113118526C>A | CA388785987 | F7 | c.853C>A (p.Arg285Ser) c.919C>A (p.Arg307Ser) c.667C>A (p.Arg223Ser) n.940C>A c.712C>A (p.Arg238Ser) c.961C>A (p.Arg321Ser) c.775C>A (p.Arg259Ser) c.613C>A (p.Arg205Ser) c.922C>A (p.Arg308Ser) c.757C>A (p.Arg253Ser) c.1006C>A (p.Arg336Ser) c.820C>A (p.Arg274Ser) n.937C>A | |
13 | g.113118526C= | CA2120142007 | F7 | c.853C= (p.Arg285=) c.919C= (p.Arg307=) c.667C= (p.Arg223=) n.940C= c.712C= (p.Arg238=) c.961C= (p.Arg321=) c.775C= (p.Arg259=) c.613C= (p.Arg205=) c.922C= (p.Arg308=) c.757C= (p.Arg253=) c.1006C= (p.Arg336=) c.820C= (p.Arg274=) n.937C= | |
13 | g.113118526C>G | CA388785988 | F7 | c.853C>G (p.Arg285Gly) c.919C>G (p.Arg307Gly) c.667C>G (p.Arg223Gly) n.940C>G c.712C>G (p.Arg238Gly) c.961C>G (p.Arg321Gly) c.775C>G (p.Arg259Gly) c.613C>G (p.Arg205Gly) c.922C>G (p.Arg308Gly) c.757C>G (p.Arg253Gly) c.1006C>G (p.Arg336Gly) c.820C>G (p.Arg274Gly) n.937C>G | |
13 | g.113118526C>T | CA7060167 | F7 | c.853C>T (p.Arg285Cys) c.919C>T (p.Arg307Cys) c.667C>T (p.Arg223Cys) n.940C>T c.712C>T (p.Arg238Cys) c.961C>T (p.Arg321Cys) c.775C>T (p.Arg259Cys) c.613C>T (p.Arg205Cys) c.922C>T (p.Arg308Cys) c.757C>T (p.Arg253Cys) c.1006C>T (p.Arg336Cys) c.820C>T (p.Arg274Cys) n.937C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118527G>A | CA7060168 | F7 | c.854G>A (p.Arg285His) c.920G>A (p.Arg307His) c.668G>A (p.Arg223His) n.941G>A c.713G>A (p.Arg238His) c.962G>A (p.Arg321His) c.776G>A (p.Arg259His) c.614G>A (p.Arg205His) c.923G>A (p.Arg308His) c.758G>A (p.Arg253His) c.1007G>A (p.Arg336His) c.821G>A (p.Arg274His) n.938G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113118527G>C | CA388785990 | F7 | c.854G>C (p.Arg285Pro) c.920G>C (p.Arg307Pro) c.668G>C (p.Arg223Pro) n.941G>C c.713G>C (p.Arg238Pro) c.962G>C (p.Arg321Pro) c.776G>C (p.Arg259Pro) c.614G>C (p.Arg205Pro) c.923G>C (p.Arg308Pro) c.758G>C (p.Arg253Pro) c.1007G>C (p.Arg336Pro) c.821G>C (p.Arg274Pro) n.938G>C | |
13 | g.113118527G= | CA2120142011 | F7 | c.854G= (p.Arg285=) c.920G= (p.Arg307=) c.668G= (p.Arg223=) n.941G= c.713G= (p.Arg238=) c.962G= (p.Arg321=) c.776G= (p.Arg259=) c.614G= (p.Arg205=) c.923G= (p.Arg308=) c.758G= (p.Arg253=) c.1007G= (p.Arg336=) c.821G= (p.Arg274=) n.938G= | |
13 | g.113118527G>T | CA388785989 | F7 | c.854G>T (p.Arg285Leu) c.920G>T (p.Arg307Leu) c.668G>T (p.Arg223Leu) n.941G>T c.713G>T (p.Arg238Leu) c.962G>T (p.Arg321Leu) c.776G>T (p.Arg259Leu) c.614G>T (p.Arg205Leu) c.923G>T (p.Arg308Leu) c.758G>T (p.Arg253Leu) c.1007G>T (p.Arg336Leu) c.821G>T (p.Arg274Leu) n.938G>T | gnomAD v4 |
13 | g.113118528C>A | CA485423882 | F7 | c.855C>A (p.Arg285=) c.921C>A (p.Arg307=) c.669C>A (p.Arg223=) n.942C>A c.714C>A (p.Arg238=) c.963C>A (p.Arg321=) c.777C>A (p.Arg259=) c.615C>A (p.Arg205=) c.924C>A (p.Arg308=) c.759C>A (p.Arg253=) c.1008C>A (p.Arg336=) c.822C>A (p.Arg274=) n.939C>A | |
13 | g.113118528C>G | CA485423881 | F7 | c.855C>G (p.Arg285=) c.921C>G (p.Arg307=) c.669C>G (p.Arg223=) n.942C>G c.714C>G (p.Arg238=) c.963C>G (p.Arg321=) c.777C>G (p.Arg259=) c.615C>G (p.Arg205=) c.924C>G (p.Arg308=) c.759C>G (p.Arg253=) c.1008C>G (p.Arg336=) c.822C>G (p.Arg274=) n.939C>G | |
13 | g.113118528C>T | CA485423880 | F7 | c.855C>T (p.Arg285=) c.921C>T (p.Arg307=) c.669C>T (p.Arg223=) n.942C>T c.714C>T (p.Arg238=) c.963C>T (p.Arg321=) c.777C>T (p.Arg259=) c.615C>T (p.Arg205=) c.924C>T (p.Arg308=) c.759C>T (p.Arg253=) c.1008C>T (p.Arg336=) c.822C>T (p.Arg274=) n.939C>T | |
13 | g.113118529C>A | CA388785991 | F7 | c.856C>A (p.Leu286Met) c.922C>A (p.Leu308Met) c.670C>A (p.Leu224Met) n.943C>A c.715C>A (p.Leu239Met) c.964C>A (p.Leu322Met) c.778C>A (p.Leu260Met) c.616C>A (p.Leu206Met) c.925C>A (p.Leu309Met) c.760C>A (p.Leu254Met) c.1009C>A (p.Leu337Met) c.823C>A (p.Leu275Met) n.940C>A | |
13 | g.113118529C= | CA2120142016 | F7 | c.856C= (p.Leu286=) c.922C= (p.Leu308=) c.670C= (p.Leu224=) n.943C= c.715C= (p.Leu239=) c.964C= (p.Leu322=) c.778C= (p.Leu260=) c.616C= (p.Leu206=) c.925C= (p.Leu309=) c.760C= (p.Leu254=) c.1009C= (p.Leu337=) c.823C= (p.Leu275=) n.940C= | |
13 | g.113118529C>G | CA388785992 | F7 | c.856C>G (p.Leu286Val) c.922C>G (p.Leu308Val) c.670C>G (p.Leu224Val) n.943C>G c.715C>G (p.Leu239Val) c.964C>G (p.Leu322Val) c.778C>G (p.Leu260Val) c.616C>G (p.Leu206Val) c.925C>G (p.Leu309Val) c.760C>G (p.Leu254Val) c.1009C>G (p.Leu337Val) c.823C>G (p.Leu275Val) n.940C>G | |
13 | g.113118529C>T | CA485423883 | F7 | c.856C>T (p.Leu286=) c.922C>T (p.Leu308=) c.670C>T (p.Leu224=) n.943C>T c.715C>T (p.Leu239=) c.964C>T (p.Leu322=) c.778C>T (p.Leu260=) c.616C>T (p.Leu206=) c.925C>T (p.Leu309=) c.760C>T (p.Leu254=) c.1009C>T (p.Leu337=) c.823C>T (p.Leu275=) n.940C>T | dbSNP |
13 | g.113118530T>A | CA388785993 | F7 | c.857T>A (p.Leu286Gln) c.923T>A (p.Leu308Gln) c.671T>A (p.Leu224Gln) n.944T>A c.716T>A (p.Leu239Gln) c.965T>A (p.Leu322Gln) c.779T>A (p.Leu260Gln) c.617T>A (p.Leu206Gln) c.926T>A (p.Leu309Gln) c.761T>A (p.Leu254Gln) c.1010T>A (p.Leu337Gln) c.824T>A (p.Leu275Gln) n.941T>A | gnomAD v4 |
13 | g.113118530T>C | CA388785994 | F7 | c.857T>C (p.Leu286Pro) c.923T>C (p.Leu308Pro) c.671T>C (p.Leu224Pro) n.944T>C c.716T>C (p.Leu239Pro) c.965T>C (p.Leu322Pro) c.779T>C (p.Leu260Pro) c.617T>C (p.Leu206Pro) c.926T>C (p.Leu309Pro) c.761T>C (p.Leu254Pro) c.1010T>C (p.Leu337Pro) c.824T>C (p.Leu275Pro) n.941T>C | ClinVar dbSNP |
13 | g.113118530T>G | CA388785995 | F7 | c.857T>G (p.Leu286Arg) c.923T>G (p.Leu308Arg) c.671T>G (p.Leu224Arg) n.944T>G c.716T>G (p.Leu239Arg) c.965T>G (p.Leu322Arg) c.779T>G (p.Leu260Arg) c.617T>G (p.Leu206Arg) c.926T>G (p.Leu309Arg) c.761T>G (p.Leu254Arg) c.1010T>G (p.Leu337Arg) c.824T>G (p.Leu275Arg) n.941T>G | |
13 | g.113118531G>A | CA485423886 | F7 | c.858G>A (p.Leu286=) c.924G>A (p.Leu308=) c.672G>A (p.Leu224=) n.945G>A c.717G>A (p.Leu239=) c.966G>A (p.Leu322=) c.780G>A (p.Leu260=) c.618G>A (p.Leu206=) c.927G>A (p.Leu309=) c.762G>A (p.Leu254=) c.1011G>A (p.Leu337=) c.825G>A (p.Leu275=) n.942G>A | dbSNP gnomAD v4 |
13 | g.113118531G>C | CA485423885 | F7 | c.858G>C (p.Leu286=) c.924G>C (p.Leu308=) c.672G>C (p.Leu224=) n.945G>C c.717G>C (p.Leu239=) c.966G>C (p.Leu322=) c.780G>C (p.Leu260=) c.618G>C (p.Leu206=) c.927G>C (p.Leu309=) c.762G>C (p.Leu254=) c.1011G>C (p.Leu337=) c.825G>C (p.Leu275=) n.942G>C | |
13 | g.113118531G= | CA2120142018 | F7 | c.858G= (p.Leu286=) c.924G= (p.Leu308=) c.672G= (p.Leu224=) n.945G= c.717G= (p.Leu239=) c.966G= (p.Leu322=) c.780G= (p.Leu260=) c.618G= (p.Leu206=) c.927G= (p.Leu309=) c.762G= (p.Leu254=) c.1011G= (p.Leu337=) c.825G= (p.Leu275=) n.942G= | |
13 | g.113118531G>T | CA485423884 | F7 | c.858G>T (p.Leu286=) c.924G>T (p.Leu308=) c.672G>T (p.Leu224=) n.945G>T c.717G>T (p.Leu239=) c.966G>T (p.Leu322=) c.780G>T (p.Leu260=) c.618G>T (p.Leu206=) c.927G>T (p.Leu309=) c.762G>T (p.Leu254=) c.1011G>T (p.Leu337=) c.825G>T (p.Leu275=) n.942G>T | |
13 | g.113118532C>A | CA388785996 | F7 | c.859C>A (p.His287Asn) c.925C>A (p.His309Asn) c.673C>A (p.His225Asn) n.946C>A c.718C>A (p.His240Asn) c.967C>A (p.His323Asn) c.781C>A (p.His261Asn) c.619C>A (p.His207Asn) c.928C>A (p.His310Asn) c.763C>A (p.His255Asn) c.1012C>A (p.His338Asn) c.826C>A (p.His276Asn) n.943C>A | |
13 | g.113118532C= | CA2120142021 | F7 | c.859C= (p.His287=) c.925C= (p.His309=) c.673C= (p.His225=) n.946C= c.718C= (p.His240=) c.967C= (p.His323=) c.781C= (p.His261=) c.619C= (p.His207=) c.928C= (p.His310=) c.763C= (p.His255=) c.1012C= (p.His338=) c.826C= (p.His276=) n.943C= | |
13 | g.113118532C>G | CA388785997 | F7 | c.859C>G (p.His287Asp) c.925C>G (p.His309Asp) c.673C>G (p.His225Asp) n.946C>G c.718C>G (p.His240Asp) c.967C>G (p.His323Asp) c.781C>G (p.His261Asp) c.619C>G (p.His207Asp) c.928C>G (p.His310Asp) c.763C>G (p.His255Asp) c.1012C>G (p.His338Asp) c.826C>G (p.His276Asp) n.943C>G | |
13 | g.113118532C>T | CA388785998 | F7 | c.859C>T (p.His287Tyr) c.925C>T (p.His309Tyr) c.673C>T (p.His225Tyr) n.946C>T c.718C>T (p.His240Tyr) c.967C>T (p.His323Tyr) c.781C>T (p.His261Tyr) c.619C>T (p.His207Tyr) c.928C>T (p.His310Tyr) c.763C>T (p.His255Tyr) c.1012C>T (p.His338Tyr) c.826C>T (p.His276Tyr) n.943C>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113118533A= | CA2120142024 | F7 | c.860A= (p.His287=) c.926A= (p.His309=) c.674A= (p.His225=) n.947A= c.719A= (p.His240=) c.968A= (p.His323=) c.782A= (p.His261=) c.620A= (p.His207=) c.929A= (p.His310=) c.764A= (p.His255=) c.1013A= (p.His338=) c.827A= (p.His276=) n.944A= | |
13 | g.113118533A>C | CA388785999 | F7 | c.860A>C (p.His287Pro) c.926A>C (p.His309Pro) c.674A>C (p.His225Pro) n.947A>C c.719A>C (p.His240Pro) c.968A>C (p.His323Pro) c.782A>C (p.His261Pro) c.620A>C (p.His207Pro) c.929A>C (p.His310Pro) c.764A>C (p.His255Pro) c.1013A>C (p.His338Pro) c.827A>C (p.His276Pro) n.944A>C | dbSNP gnomAD v2 |
13 | g.113118533A>G | CA388786000 | F7 | c.860A>G (p.His287Arg) c.926A>G (p.His309Arg) c.674A>G (p.His225Arg) n.947A>G c.719A>G (p.His240Arg) c.968A>G (p.His323Arg) c.782A>G (p.His261Arg) c.620A>G (p.His207Arg) c.929A>G (p.His310Arg) c.764A>G (p.His255Arg) c.1013A>G (p.His338Arg) c.827A>G (p.His276Arg) n.944A>G | |
13 | g.113118533A>T | CA388786001 | F7 | c.860A>T (p.His287Leu) c.926A>T (p.His309Leu) c.674A>T (p.His225Leu) n.947A>T c.719A>T (p.His240Leu) c.968A>T (p.His323Leu) c.782A>T (p.His261Leu) c.620A>T (p.His207Leu) c.929A>T (p.His310Leu) c.764A>T (p.His255Leu) c.1013A>T (p.His338Leu) c.827A>T (p.His276Leu) n.944A>T | |
13 | g.113118537_113118557del | CA2623808955 | F7 | c.864_884del (p.Gln288_Asp294del) c.930_950del (p.Gln310_Asp316del) c.678_698del (p.Gln226_Asp232del) n.951_971del c.723_743del (p.Gln241_Asp247del) c.972_992del (p.Gln324_Asp330del) c.786_806del (p.Gln262_Asp268del) c.624_644del (p.Gln208_Asp214del) c.933_953del (p.Gln311_Asp317del) c.768_788del (p.Gln256_Asp262del) c.1017_1037del (p.Gln339_Asp345del) c.831_851del (p.Gln277_Asp283del) n.948_968del | gnomAD v4 |
13 | g.113118534C>A | CA388786002 | F7 | c.861C>A (p.His287Gln) c.927C>A (p.His309Gln) c.675C>A (p.His225Gln) n.948C>A c.720C>A (p.His240Gln) c.969C>A (p.His323Gln) c.783C>A (p.His261Gln) c.621C>A (p.His207Gln) c.930C>A (p.His310Gln) c.765C>A (p.His255Gln) c.1014C>A (p.His338Gln) c.828C>A (p.His276Gln) n.945C>A | |
13 | g.113118534C>G | CA388786003 | F7 | c.861C>G (p.His287Gln) c.927C>G (p.His309Gln) c.675C>G (p.His225Gln) n.948C>G c.720C>G (p.His240Gln) c.969C>G (p.His323Gln) c.783C>G (p.His261Gln) c.621C>G (p.His207Gln) c.930C>G (p.His310Gln) c.765C>G (p.His255Gln) c.1014C>G (p.His338Gln) c.828C>G (p.His276Gln) n.945C>G | |
13 | g.113118534C>T | CA485423887 | F7 | c.861C>T (p.His287=) c.927C>T (p.His309=) c.675C>T (p.His225=) n.948C>T c.720C>T (p.His240=) c.969C>T (p.His323=) c.783C>T (p.His261=) c.621C>T (p.His207=) c.930C>T (p.His310=) c.765C>T (p.His255=) c.1014C>T (p.His338=) c.828C>T (p.His276=) n.945C>T | gnomAD v4 |
13 | g.113118535C>A | CA388786004 | F7 | c.862C>A (p.Gln288Lys) c.928C>A (p.Gln310Lys) c.676C>A (p.Gln226Lys) n.949C>A c.721C>A (p.Gln241Lys) c.970C>A (p.Gln324Lys) c.784C>A (p.Gln262Lys) c.622C>A (p.Gln208Lys) c.931C>A (p.Gln311Lys) c.766C>A (p.Gln256Lys) c.1015C>A (p.Gln339Lys) c.829C>A (p.Gln277Lys) n.946C>A | |
13 | g.113118535C= | CA2120142027 | F7 | c.862C= (p.Gln288=) c.928C= (p.Gln310=) c.676C= (p.Gln226=) n.949C= c.721C= (p.Gln241=) c.970C= (p.Gln324=) c.784C= (p.Gln262=) c.622C= (p.Gln208=) c.931C= (p.Gln311=) c.766C= (p.Gln256=) c.1015C= (p.Gln339=) c.829C= (p.Gln277=) n.946C= | |
13 | g.113118535C>G | CA388786005 | F7 | c.862C>G (p.Gln288Glu) c.928C>G (p.Gln310Glu) c.676C>G (p.Gln226Glu) n.949C>G c.721C>G (p.Gln241Glu) c.970C>G (p.Gln324Glu) c.784C>G (p.Gln262Glu) c.622C>G (p.Gln208Glu) c.931C>G (p.Gln311Glu) c.766C>G (p.Gln256Glu) c.1015C>G (p.Gln339Glu) c.829C>G (p.Gln277Glu) n.946C>G | |
13 | g.113118535C>T | CA256461545 | F7 | c.862C>T (p.Gln288Ter) c.928C>T (p.Gln310Ter) c.676C>T (p.Gln226Ter) n.949C>T c.721C>T (p.Gln241Ter) c.970C>T (p.Gln324Ter) c.784C>T (p.Gln262Ter) c.622C>T (p.Gln208Ter) c.931C>T (p.Gln311Ter) c.766C>T (p.Gln256Ter) c.1015C>T (p.Gln339Ter) c.829C>T (p.Gln277Ter) n.946C>T | dbSNP gnomAD v4 |
13 | g.113118536A>C | CA388786006 | F7 | c.863A>C (p.Gln288Pro) c.929A>C (p.Gln310Pro) c.677A>C (p.Gln226Pro) n.950A>C c.722A>C (p.Gln241Pro) c.971A>C (p.Gln324Pro) c.785A>C (p.Gln262Pro) c.623A>C (p.Gln208Pro) c.932A>C (p.Gln311Pro) c.767A>C (p.Gln256Pro) c.1016A>C (p.Gln339Pro) c.830A>C (p.Gln277Pro) n.947A>C | |
13 | g.113118536A>G | CA388786007 | F7 | c.863A>G (p.Gln288Arg) c.929A>G (p.Gln310Arg) c.677A>G (p.Gln226Arg) n.950A>G c.722A>G (p.Gln241Arg) c.971A>G (p.Gln324Arg) c.785A>G (p.Gln262Arg) c.623A>G (p.Gln208Arg) c.932A>G (p.Gln311Arg) c.767A>G (p.Gln256Arg) c.1016A>G (p.Gln339Arg) c.830A>G (p.Gln277Arg) n.947A>G | |
13 | g.113118536A>T | CA388786008 | F7 | c.863A>T (p.Gln288Leu) c.929A>T (p.Gln310Leu) c.677A>T (p.Gln226Leu) n.950A>T c.722A>T (p.Gln241Leu) c.971A>T (p.Gln324Leu) c.785A>T (p.Gln262Leu) c.623A>T (p.Gln208Leu) c.932A>T (p.Gln311Leu) c.767A>T (p.Gln256Leu) c.1016A>T (p.Gln339Leu) c.830A>T (p.Gln277Leu) n.947A>T | |
13 | g.113118537G>A | CA485423888 | F7 | c.864G>A (p.Gln288=) c.930G>A (p.Gln310=) c.678G>A (p.Gln226=) n.951G>A c.723G>A (p.Gln241=) c.972G>A (p.Gln324=) c.786G>A (p.Gln262=) c.624G>A (p.Gln208=) c.933G>A (p.Gln311=) c.768G>A (p.Gln256=) c.1017G>A (p.Gln339=) c.831G>A (p.Gln277=) n.948G>A | |
13 | g.113118537G>C | CA388786009 | F7 | c.864G>C (p.Gln288His) c.930G>C (p.Gln310His) c.678G>C (p.Gln226His) n.951G>C c.723G>C (p.Gln241His) c.972G>C (p.Gln324His) c.786G>C (p.Gln262His) c.624G>C (p.Gln208His) c.933G>C (p.Gln311His) c.768G>C (p.Gln256His) c.1017G>C (p.Gln339His) c.831G>C (p.Gln277His) n.948G>C | |
13 | g.113118537G= | CA2120142031 | F7 | c.864G= (p.Gln288=) c.930G= (p.Gln310=) c.678G= (p.Gln226=) n.951G= c.723G= (p.Gln241=) c.972G= (p.Gln324=) c.786G= (p.Gln262=) c.624G= (p.Gln208=) c.933G= (p.Gln311=) c.768G= (p.Gln256=) c.1017G= (p.Gln339=) c.831G= (p.Gln277=) n.948G= | |
13 | g.113118537G>T | CA388786010 | F7 | c.864G>T (p.Gln288His) c.930G>T (p.Gln310His) c.678G>T (p.Gln226His) n.951G>T c.723G>T (p.Gln241His) c.972G>T (p.Gln324His) c.786G>T (p.Gln262His) c.624G>T (p.Gln208His) c.933G>T (p.Gln311His) c.768G>T (p.Gln256His) c.1017G>T (p.Gln339His) c.831G>T (p.Gln277His) n.948G>T | dbSNP gnomAD v4 |
13 | g.113118538C>A | CA388786011 | F7 | c.865C>A (p.Pro289Thr) c.931C>A (p.Pro311Thr) c.679C>A (p.Pro227Thr) n.952C>A c.724C>A (p.Pro242Thr) c.973C>A (p.Pro325Thr) c.787C>A (p.Pro263Thr) c.625C>A (p.Pro209Thr) c.934C>A (p.Pro312Thr) c.769C>A (p.Pro257Thr) c.1018C>A (p.Pro340Thr) c.832C>A (p.Pro278Thr) n.949C>A | |
13 | g.113118538C>G | CA388786012 | F7 | c.865C>G (p.Pro289Ala) c.931C>G (p.Pro311Ala) c.679C>G (p.Pro227Ala) n.952C>G c.724C>G (p.Pro242Ala) c.973C>G (p.Pro325Ala) c.787C>G (p.Pro263Ala) c.625C>G (p.Pro209Ala) c.934C>G (p.Pro312Ala) c.769C>G (p.Pro257Ala) c.1018C>G (p.Pro340Ala) c.832C>G (p.Pro278Ala) n.949C>G | |
13 | g.113118538C>T | CA388786013 | F7 | c.865C>T (p.Pro289Ser) c.931C>T (p.Pro311Ser) c.679C>T (p.Pro227Ser) n.952C>T c.724C>T (p.Pro242Ser) c.973C>T (p.Pro325Ser) c.787C>T (p.Pro263Ser) c.625C>T (p.Pro209Ser) c.934C>T (p.Pro312Ser) c.769C>T (p.Pro257Ser) c.1018C>T (p.Pro340Ser) c.832C>T (p.Pro278Ser) n.949C>T | |
13 | g.113118539C>A | CA388786014 | F7 | c.866C>A (p.Pro289His) c.932C>A (p.Pro311His) c.680C>A (p.Pro227His) n.953C>A c.725C>A (p.Pro242His) c.974C>A (p.Pro325His) c.788C>A (p.Pro263His) c.626C>A (p.Pro209His) c.935C>A (p.Pro312His) c.770C>A (p.Pro257His) c.1019C>A (p.Pro340His) c.833C>A (p.Pro278His) n.950C>A | |
13 | g.113118539C= | CA2120142035 | F7 | c.866C= (p.Pro289=) c.932C= (p.Pro311=) c.680C= (p.Pro227=) n.953C= c.725C= (p.Pro242=) c.974C= (p.Pro325=) c.788C= (p.Pro263=) c.626C= (p.Pro209=) c.935C= (p.Pro312=) c.770C= (p.Pro257=) c.1019C= (p.Pro340=) c.833C= (p.Pro278=) n.950C= | |
13 | g.113118539C>G | CA388786015 | F7 | c.866C>G (p.Pro289Arg) c.932C>G (p.Pro311Arg) c.680C>G (p.Pro227Arg) n.953C>G c.725C>G (p.Pro242Arg) c.974C>G (p.Pro325Arg) c.788C>G (p.Pro263Arg) c.626C>G (p.Pro209Arg) c.935C>G (p.Pro312Arg) c.770C>G (p.Pro257Arg) c.1019C>G (p.Pro340Arg) c.833C>G (p.Pro278Arg) n.950C>G | |
13 | g.113118539C>T | CA7060169 | F7 | c.866C>T (p.Pro289Leu) c.932C>T (p.Pro311Leu) c.680C>T (p.Pro227Leu) n.953C>T c.725C>T (p.Pro242Leu) c.974C>T (p.Pro325Leu) c.788C>T (p.Pro263Leu) c.626C>T (p.Pro209Leu) c.935C>T (p.Pro312Leu) c.770C>T (p.Pro257Leu) c.1019C>T (p.Pro340Leu) c.833C>T (p.Pro278Leu) n.950C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |