Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.71299039_71299058del | CA2687600679 | EYA1 | c.815_826+8del c.713_724+8del c.800_811+8del c.*94_*105+8del c.51_62+8del n.1278_1289+8del c.*582_*593+8del c.902_913+8del c.887_898+8del c.884_895+8del c.797_808+8del c.716_727+8del c.812_823+8del c.-269_-258+8del n.1310_1321+8del c.449_460+8del c.752_763+8del c.464_475+8del c.899_910+8del | gnomAD v4 |
8 | g.71299049G>A | CA371467075 | EYA1 | c.824C>T (p.Ala275Val) c.722C>T (p.Ala241Val) c.809C>T (p.Ala270Val) c.*103C>T (n.*103C>T) c.60C>T n.1287C>T c.*591C>T (n.*591C>T) c.911C>T (p.Ala304Val) c.896C>T (p.Ala299Val) c.893C>T (p.Ala298Val) c.806C>T (p.Ala269Val) c.725C>T (p.Ala242Val) c.821C>T (p.Ala274Val) c.-260C>T (n.-260C>T) n.1319C>T c.458C>T (p.Ala153Val) c.761C>T (p.Ala254Val) c.473C>T (p.Ala158Val) c.908C>T (p.Ala303Val) | |
8 | g.71299049G>C | CA371467076 | EYA1 | c.824C>G (p.Ala275Gly) c.722C>G (p.Ala241Gly) c.809C>G (p.Ala270Gly) c.*103C>G (n.*103C>G) c.60C>G n.1287C>G c.*591C>G (n.*591C>G) c.911C>G (p.Ala304Gly) c.896C>G (p.Ala299Gly) c.893C>G (p.Ala298Gly) c.806C>G (p.Ala269Gly) c.725C>G (p.Ala242Gly) c.821C>G (p.Ala274Gly) c.-260C>G (n.-260C>G) n.1319C>G c.458C>G (p.Ala153Gly) c.761C>G (p.Ala254Gly) c.473C>G (p.Ala158Gly) c.908C>G (p.Ala303Gly) | |
8 | g.71299049G>T | CA371467077 | EYA1 | c.824C>A (p.Ala275Glu) c.722C>A (p.Ala241Glu) c.809C>A (p.Ala270Glu) c.*103C>A (n.*103C>A) c.60C>A n.1287C>A c.*591C>A (n.*591C>A) c.911C>A (p.Ala304Glu) c.896C>A (p.Ala299Glu) c.893C>A (p.Ala298Glu) c.806C>A (p.Ala269Glu) c.725C>A (p.Ala242Glu) c.821C>A (p.Ala274Glu) c.-260C>A (n.-260C>A) n.1319C>A c.458C>A (p.Ala153Glu) c.761C>A (p.Ala254Glu) c.473C>A (p.Ala158Glu) c.908C>A (p.Ala303Glu) | |
8 | g.71299050C>A | CA371467078 | EYA1 | c.823G>T (p.Ala275Ser) c.721G>T (p.Ala241Ser) c.808G>T (p.Ala270Ser) c.*102G>T (n.*102G>T) c.59G>T n.1286G>T c.*590G>T (n.*590G>T) c.910G>T (p.Ala304Ser) c.895G>T (p.Ala299Ser) c.892G>T (p.Ala298Ser) c.805G>T (p.Ala269Ser) c.724G>T (p.Ala242Ser) c.820G>T (p.Ala274Ser) c.-261G>T (n.-261G>T) n.1318G>T c.457G>T (p.Ala153Ser) c.760G>T (p.Ala254Ser) c.472G>T (p.Ala158Ser) c.907G>T (p.Ala303Ser) | |
8 | g.71299050C>G | CA371467079 | EYA1 | c.823G>C (p.Ala275Pro) c.721G>C (p.Ala241Pro) c.808G>C (p.Ala270Pro) c.*102G>C (n.*102G>C) c.59G>C n.1286G>C c.*590G>C (n.*590G>C) c.910G>C (p.Ala304Pro) c.895G>C (p.Ala299Pro) c.892G>C (p.Ala298Pro) c.805G>C (p.Ala269Pro) c.724G>C (p.Ala242Pro) c.820G>C (p.Ala274Pro) c.-261G>C (n.-261G>C) n.1318G>C c.457G>C (p.Ala153Pro) c.760G>C (p.Ala254Pro) c.472G>C (p.Ala158Pro) c.907G>C (p.Ala303Pro) | |
8 | g.71299050C>T | CA371467080 | EYA1 | c.823G>A (p.Ala275Thr) c.721G>A (p.Ala241Thr) c.808G>A (p.Ala270Thr) c.*102G>A (n.*102G>A) c.59G>A n.1286G>A c.*590G>A (n.*590G>A) c.910G>A (p.Ala304Thr) c.895G>A (p.Ala299Thr) c.892G>A (p.Ala298Thr) c.805G>A (p.Ala269Thr) c.724G>A (p.Ala242Thr) c.820G>A (p.Ala274Thr) c.-261G>A (n.-261G>A) n.1318G>A c.457G>A (p.Ala153Thr) c.760G>A (p.Ala254Thr) c.472G>A (p.Ala158Thr) c.907G>A (p.Ala303Thr) | gnomAD v4 |
8 | g.71299054_71299062dup | CA2687600680 | EYA1 | c.815_823dup (p.Thr274_Ala275insAspProThr) c.713_721dup (p.Thr240_Ala241insAspProThr) c.800_808dup (p.Thr269_Ala270insAspProThr) c.*94_*102dup (n.*94_*102dup) c.51_59dup n.1278_1286dup c.*582_*590dup (n.*582_*590dup) c.902_910dup (p.Thr303_Ala304insAspProThr) c.887_895dup (p.Thr298_Ala299insAspProThr) c.884_892dup (p.Thr297_Ala298insAspProThr) c.797_805dup (p.Thr268_Ala269insAspProThr) c.716_724dup (p.Thr241_Ala242insAspProThr) c.812_820dup (p.Thr273_Ala274insAspProThr) c.-269_-261dup (n.-269_-261dup) n.1310_1318dup c.449_457dup (p.Thr152_Ala153insAspProThr) c.752_760dup (p.Thr253_Ala254insAspProThr) c.464_472dup (p.Thr157_Ala158insAspProThr) c.899_907dup (p.Thr302_Ala303insAspProThr) | gnomAD v4 |
8 | g.71299051T>A | CA461327812 | EYA1 | c.822A>T (p.Thr274=) c.720A>T (p.Thr240=) c.807A>T (p.Thr269=) c.*101A>T (n.*101A>T) c.58A>T n.1285A>T c.*589A>T (n.*589A>T) c.909A>T (p.Thr303=) c.894A>T (p.Thr298=) c.891A>T (p.Thr297=) c.804A>T (p.Thr268=) c.723A>T (p.Thr241=) c.819A>T (p.Thr273=) c.-262A>T (n.-262A>T) n.1317A>T c.456A>T (p.Thr152=) c.759A>T (p.Thr253=) c.471A>T (p.Thr157=) c.906A>T (p.Thr302=) | |
8 | g.71299051T>C | CA461327811 | EYA1 | c.822A>G (p.Thr274=) c.720A>G (p.Thr240=) c.807A>G (p.Thr269=) c.*101A>G (n.*101A>G) c.58A>G n.1285A>G c.*589A>G (n.*589A>G) c.909A>G (p.Thr303=) c.894A>G (p.Thr298=) c.891A>G (p.Thr297=) c.804A>G (p.Thr268=) c.723A>G (p.Thr241=) c.819A>G (p.Thr273=) c.-262A>G (n.-262A>G) n.1317A>G c.456A>G (p.Thr152=) c.759A>G (p.Thr253=) c.471A>G (p.Thr157=) c.906A>G (p.Thr302=) | |
8 | g.71299051T>G | CA461327810 | EYA1 | c.822A>C (p.Thr274=) c.720A>C (p.Thr240=) c.807A>C (p.Thr269=) c.*101A>C (n.*101A>C) c.58A>C n.1285A>C c.*589A>C (n.*589A>C) c.909A>C (p.Thr303=) c.894A>C (p.Thr298=) c.891A>C (p.Thr297=) c.804A>C (p.Thr268=) c.723A>C (p.Thr241=) c.819A>C (p.Thr273=) c.-262A>C (n.-262A>C) n.1317A>C c.456A>C (p.Thr152=) c.759A>C (p.Thr253=) c.471A>C (p.Thr157=) c.906A>C (p.Thr302=) | |
8 | g.71299052del | CA2695209784 | EYA1 | c.821del (p.Thr274LysfsTer?) c.719del (p.Thr240LysfsTer?) c.806del (p.Thr269LysfsTer?) c.*100del (n.*100del) c.57del n.1284del c.*588del (n.*588del) c.908del (p.Thr303LysfsTer?) c.893del (p.Thr298LysfsTer?) c.890del (p.Thr297LysfsTer?) c.803del (p.Thr268LysfsTer?) c.722del (p.Thr241LysfsTer?) c.818del (p.Thr273LysfsTer?) c.-263del (n.-263del) n.1316del c.455del (p.Thr152LysfsTer?) c.758del (p.Thr253LysfsTer?) c.470del (p.Thr157LysfsTer?) c.905del (p.Thr302LysfsTer?) | |
8 | g.71299052G>A | CA371467082 | EYA1 | c.821C>T (p.Thr274Ile) c.719C>T (p.Thr240Ile) c.806C>T (p.Thr269Ile) c.*100C>T (n.*100C>T) c.57C>T n.1284C>T c.*588C>T (n.*588C>T) c.908C>T (p.Thr303Ile) c.893C>T (p.Thr298Ile) c.890C>T (p.Thr297Ile) c.803C>T (p.Thr268Ile) c.722C>T (p.Thr241Ile) c.818C>T (p.Thr273Ile) c.-263C>T (n.-263C>T) n.1316C>T c.455C>T (p.Thr152Ile) c.758C>T (p.Thr253Ile) c.470C>T (p.Thr157Ile) c.905C>T (p.Thr302Ile) | |
8 | g.71299052G>C | CA371467081 | EYA1 | c.821C>G (p.Thr274Arg) c.719C>G (p.Thr240Arg) c.806C>G (p.Thr269Arg) c.*100C>G (n.*100C>G) c.57C>G n.1284C>G c.*588C>G (n.*588C>G) c.908C>G (p.Thr303Arg) c.893C>G (p.Thr298Arg) c.890C>G (p.Thr297Arg) c.803C>G (p.Thr268Arg) c.722C>G (p.Thr241Arg) c.818C>G (p.Thr273Arg) c.-263C>G (n.-263C>G) n.1316C>G c.455C>G (p.Thr152Arg) c.758C>G (p.Thr253Arg) c.470C>G (p.Thr157Arg) c.905C>G (p.Thr302Arg) | |
8 | g.71299052G= | CA1792728303 | EYA1 | c.821C= (p.Thr274=) c.719C= (p.Thr240=) c.806C= (p.Thr269=) c.*100C= (n.*100C=) c.57C= n.1284C= c.*588C= (n.*588C=) c.908C= (p.Thr303=) c.893C= (p.Thr298=) c.890C= (p.Thr297=) c.803C= (p.Thr268=) c.722C= (p.Thr241=) c.818C= (p.Thr273=) c.-263C= (n.-263C=) n.1316C= c.455C= (p.Thr152=) c.758C= (p.Thr253=) c.470C= (p.Thr157=) c.905C= (p.Thr302=) | |
8 | g.71299052G>T | CA179208461 | EYA1 | c.821C>A (p.Thr274Lys) c.719C>A (p.Thr240Lys) c.806C>A (p.Thr269Lys) c.*100C>A (n.*100C>A) c.57C>A n.1284C>A c.*588C>A (n.*588C>A) c.908C>A (p.Thr303Lys) c.893C>A (p.Thr298Lys) c.890C>A (p.Thr297Lys) c.803C>A (p.Thr268Lys) c.722C>A (p.Thr241Lys) c.818C>A (p.Thr273Lys) c.-263C>A (n.-263C>A) n.1316C>A c.455C>A (p.Thr152Lys) c.758C>A (p.Thr253Lys) c.470C>A (p.Thr157Lys) c.905C>A (p.Thr302Lys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.71299053T>A | CA371467083 | EYA1 | c.820A>T (p.Thr274Ser) c.718A>T (p.Thr240Ser) c.805A>T (p.Thr269Ser) c.*99A>T (n.*99A>T) c.56A>T n.1283A>T c.*587A>T (n.*587A>T) c.907A>T (p.Thr303Ser) c.892A>T (p.Thr298Ser) c.889A>T (p.Thr297Ser) c.802A>T (p.Thr268Ser) c.721A>T (p.Thr241Ser) c.817A>T (p.Thr273Ser) c.-264A>T (n.-264A>T) n.1315A>T c.454A>T (p.Thr152Ser) c.757A>T (p.Thr253Ser) c.469A>T (p.Thr157Ser) c.904A>T (p.Thr302Ser) | |
8 | g.71299053T>C | CA371467084 | EYA1 | c.820A>G (p.Thr274Ala) c.718A>G (p.Thr240Ala) c.805A>G (p.Thr269Ala) c.*99A>G (n.*99A>G) c.56A>G n.1283A>G c.*587A>G (n.*587A>G) c.907A>G (p.Thr303Ala) c.892A>G (p.Thr298Ala) c.889A>G (p.Thr297Ala) c.802A>G (p.Thr268Ala) c.721A>G (p.Thr241Ala) c.817A>G (p.Thr273Ala) c.-264A>G (n.-264A>G) n.1315A>G c.454A>G (p.Thr152Ala) c.757A>G (p.Thr253Ala) c.469A>G (p.Thr157Ala) c.904A>G (p.Thr302Ala) | |
8 | g.71299053T>G | CA371467085 | EYA1 | c.820A>C (p.Thr274Pro) c.718A>C (p.Thr240Pro) c.805A>C (p.Thr269Pro) c.*99A>C (n.*99A>C) c.56A>C n.1283A>C c.*587A>C (n.*587A>C) c.907A>C (p.Thr303Pro) c.892A>C (p.Thr298Pro) c.889A>C (p.Thr297Pro) c.802A>C (p.Thr268Pro) c.721A>C (p.Thr241Pro) c.817A>C (p.Thr273Pro) c.-264A>C (n.-264A>C) n.1315A>C c.454A>C (p.Thr152Pro) c.757A>C (p.Thr253Pro) c.469A>C (p.Thr157Pro) c.904A>C (p.Thr302Pro) | |
8 | g.71299054G>A | CA461327813 | EYA1 | c.819C>T (p.Pro273=) c.717C>T (p.Pro239=) c.804C>T (p.Pro268=) c.*98C>T (n.*98C>T) c.55C>T n.1282C>T c.*586C>T (n.*586C>T) c.906C>T (p.Pro302=) c.891C>T (p.Pro297=) c.888C>T (p.Pro296=) c.801C>T (p.Pro267=) c.720C>T (p.Pro240=) c.816C>T (p.Pro272=) c.-265C>T (n.-265C>T) n.1314C>T c.453C>T (p.Pro151=) c.756C>T (p.Pro252=) c.468C>T (p.Pro156=) c.903C>T (p.Pro301=) | |
8 | g.71299054G>C | CA461327815 | EYA1 | c.819C>G (p.Pro273=) c.717C>G (p.Pro239=) c.804C>G (p.Pro268=) c.*98C>G (n.*98C>G) c.55C>G n.1282C>G c.*586C>G (n.*586C>G) c.906C>G (p.Pro302=) c.891C>G (p.Pro297=) c.888C>G (p.Pro296=) c.801C>G (p.Pro267=) c.720C>G (p.Pro240=) c.816C>G (p.Pro272=) c.-265C>G (n.-265C>G) n.1314C>G c.453C>G (p.Pro151=) c.756C>G (p.Pro252=) c.468C>G (p.Pro156=) c.903C>G (p.Pro301=) | |
8 | g.71299054G>T | CA461327814 | EYA1 | c.819C>A (p.Pro273=) c.717C>A (p.Pro239=) c.804C>A (p.Pro268=) c.*98C>A (n.*98C>A) c.55C>A n.1282C>A c.*586C>A (n.*586C>A) c.906C>A (p.Pro302=) c.891C>A (p.Pro297=) c.888C>A (p.Pro296=) c.801C>A (p.Pro267=) c.720C>A (p.Pro240=) c.816C>A (p.Pro272=) c.-265C>A (n.-265C>A) n.1314C>A c.453C>A (p.Pro151=) c.756C>A (p.Pro252=) c.468C>A (p.Pro156=) c.903C>A (p.Pro301=) | gnomAD v4 |
8 | g.71299055G>A | CA371467086 | EYA1 | c.818C>T (p.Pro273Leu) c.716C>T (p.Pro239Leu) c.803C>T (p.Pro268Leu) c.*97C>T (n.*97C>T) c.54C>T n.1281C>T c.*585C>T (n.*585C>T) c.905C>T (p.Pro302Leu) c.890C>T (p.Pro297Leu) c.887C>T (p.Pro296Leu) c.800C>T (p.Pro267Leu) c.719C>T (p.Pro240Leu) c.815C>T (p.Pro272Leu) c.-266C>T (n.-266C>T) n.1313C>T c.452C>T (p.Pro151Leu) c.755C>T (p.Pro252Leu) c.467C>T (p.Pro156Leu) c.902C>T (p.Pro301Leu) | |
8 | g.71299055G>C | CA371467087 | EYA1 | c.818C>G (p.Pro273Arg) c.716C>G (p.Pro239Arg) c.803C>G (p.Pro268Arg) c.*97C>G (n.*97C>G) c.54C>G n.1281C>G c.*585C>G (n.*585C>G) c.905C>G (p.Pro302Arg) c.890C>G (p.Pro297Arg) c.887C>G (p.Pro296Arg) c.800C>G (p.Pro267Arg) c.719C>G (p.Pro240Arg) c.815C>G (p.Pro272Arg) c.-266C>G (n.-266C>G) n.1313C>G c.452C>G (p.Pro151Arg) c.755C>G (p.Pro252Arg) c.467C>G (p.Pro156Arg) c.902C>G (p.Pro301Arg) | |
8 | g.71299055G>T | CA371467088 | EYA1 | c.818C>A (p.Pro273His) c.716C>A (p.Pro239His) c.803C>A (p.Pro268His) c.*97C>A (n.*97C>A) c.54C>A n.1281C>A c.*585C>A (n.*585C>A) c.905C>A (p.Pro302His) c.890C>A (p.Pro297His) c.887C>A (p.Pro296His) c.800C>A (p.Pro267His) c.719C>A (p.Pro240His) c.815C>A (p.Pro272His) c.-266C>A (n.-266C>A) n.1313C>A c.452C>A (p.Pro151His) c.755C>A (p.Pro252His) c.467C>A (p.Pro156His) c.902C>A (p.Pro301His) | |
8 | g.71299056G>A | CA4779660 | EYA1 | c.817C>T (p.Pro273Ser) c.715C>T (p.Pro239Ser) c.802C>T (p.Pro268Ser) c.*96C>T (n.*96C>T) c.53C>T n.1280C>T c.*584C>T (n.*584C>T) c.904C>T (p.Pro302Ser) c.889C>T (p.Pro297Ser) c.886C>T (p.Pro296Ser) c.799C>T (p.Pro267Ser) c.718C>T (p.Pro240Ser) c.814C>T (p.Pro272Ser) c.-267C>T (n.-267C>T) n.1312C>T c.451C>T (p.Pro151Ser) c.754C>T (p.Pro252Ser) c.466C>T (p.Pro156Ser) c.901C>T (p.Pro301Ser) | dbSNP ExAC |
8 | g.71299056G>C | CA371467089 | EYA1 | c.817C>G (p.Pro273Ala) c.715C>G (p.Pro239Ala) c.802C>G (p.Pro268Ala) c.*96C>G (n.*96C>G) c.53C>G n.1280C>G c.*584C>G (n.*584C>G) c.904C>G (p.Pro302Ala) c.889C>G (p.Pro297Ala) c.886C>G (p.Pro296Ala) c.799C>G (p.Pro267Ala) c.718C>G (p.Pro240Ala) c.814C>G (p.Pro272Ala) c.-267C>G (n.-267C>G) n.1312C>G c.451C>G (p.Pro151Ala) c.754C>G (p.Pro252Ala) c.466C>G (p.Pro156Ala) c.901C>G (p.Pro301Ala) | |
8 | g.71299056G= | CA1792728304 | EYA1 | c.817C= (p.Pro273=) c.715C= (p.Pro239=) c.802C= (p.Pro268=) c.*96C= (n.*96C=) c.53C= n.1280C= c.*584C= (n.*584C=) c.904C= (p.Pro302=) c.889C= (p.Pro297=) c.886C= (p.Pro296=) c.799C= (p.Pro267=) c.718C= (p.Pro240=) c.814C= (p.Pro272=) c.-267C= (n.-267C=) n.1312C= c.451C= (p.Pro151=) c.754C= (p.Pro252=) c.466C= (p.Pro156=) c.901C= (p.Pro301=) | |
8 | g.71299056G>T | CA371467090 | EYA1 | c.817C>A (p.Pro273Thr) c.715C>A (p.Pro239Thr) c.802C>A (p.Pro268Thr) c.*96C>A (n.*96C>A) c.53C>A n.1280C>A c.*584C>A (n.*584C>A) c.904C>A (p.Pro302Thr) c.889C>A (p.Pro297Thr) c.886C>A (p.Pro296Thr) c.799C>A (p.Pro267Thr) c.718C>A (p.Pro240Thr) c.814C>A (p.Pro272Thr) c.-267C>A (n.-267C>A) n.1312C>A c.451C>A (p.Pro151Thr) c.754C>A (p.Pro252Thr) c.466C>A (p.Pro156Thr) c.901C>A (p.Pro301Thr) | |
8 | g.71299057A= | CA1792728305 | EYA1 | c.816T= (p.Asp272=) c.714T= (p.Asp238=) c.801T= (p.Asp267=) c.*95T= (n.*95T=) c.52T= n.1279T= c.*583T= (n.*583T=) c.903T= (p.Asp301=) c.888T= (p.Asp296=) c.885T= (p.Asp295=) c.798T= (p.Asp266=) c.717T= (p.Asp239=) c.813T= (p.Asp271=) c.-268T= (n.-268T=) n.1311T= c.450T= (p.Asp150=) c.753T= (p.Asp251=) c.465T= (p.Asp155=) c.900T= (p.Asp300=) | |
8 | g.71299057A>C | CA371467091 | EYA1 | c.816T>G (p.Asp272Glu) c.714T>G (p.Asp238Glu) c.801T>G (p.Asp267Glu) c.*95T>G (n.*95T>G) c.52T>G n.1279T>G c.*583T>G (n.*583T>G) c.903T>G (p.Asp301Glu) c.888T>G (p.Asp296Glu) c.885T>G (p.Asp295Glu) c.798T>G (p.Asp266Glu) c.717T>G (p.Asp239Glu) c.813T>G (p.Asp271Glu) c.-268T>G (n.-268T>G) n.1311T>G c.450T>G (p.Asp150Glu) c.753T>G (p.Asp251Glu) c.465T>G (p.Asp155Glu) c.900T>G (p.Asp300Glu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.71299057A>G | CA461327816 | EYA1 | c.816T>C (p.Asp272=) c.714T>C (p.Asp238=) c.801T>C (p.Asp267=) c.*95T>C (n.*95T>C) c.52T>C n.1279T>C c.*583T>C (n.*583T>C) c.903T>C (p.Asp301=) c.888T>C (p.Asp296=) c.885T>C (p.Asp295=) c.798T>C (p.Asp266=) c.717T>C (p.Asp239=) c.813T>C (p.Asp271=) c.-268T>C (n.-268T>C) n.1311T>C c.450T>C (p.Asp150=) c.753T>C (p.Asp251=) c.465T>C (p.Asp155=) c.900T>C (p.Asp300=) | |
8 | g.71299057A>T | CA371467092 | EYA1 | c.816T>A (p.Asp272Glu) c.714T>A (p.Asp238Glu) c.801T>A (p.Asp267Glu) c.*95T>A (n.*95T>A) c.52T>A n.1279T>A c.*583T>A (n.*583T>A) c.903T>A (p.Asp301Glu) c.888T>A (p.Asp296Glu) c.885T>A (p.Asp295Glu) c.798T>A (p.Asp266Glu) c.717T>A (p.Asp239Glu) c.813T>A (p.Asp271Glu) c.-268T>A (n.-268T>A) n.1311T>A c.450T>A (p.Asp150Glu) c.753T>A (p.Asp251Glu) c.465T>A (p.Asp155Glu) c.900T>A (p.Asp300Glu) | |
8 | g.71299058T>A | CA371467094 | EYA1 | c.815A>T (p.Asp272Val) c.713A>T (p.Asp238Val) c.800A>T (p.Asp267Val) c.*94A>T (n.*94A>T) c.51A>T n.1278A>T c.*582A>T (n.*582A>T) c.902A>T (p.Asp301Val) c.887A>T (p.Asp296Val) c.884A>T (p.Asp295Val) c.797A>T (p.Asp266Val) c.716A>T (p.Asp239Val) c.812A>T (p.Asp271Val) c.-269A>T (n.-269A>T) n.1310A>T c.449A>T (p.Asp150Val) c.752A>T (p.Asp251Val) c.464A>T (p.Asp155Val) c.899A>T (p.Asp300Val) | |
8 | g.71299058T>C | CA4779661 | EYA1 | c.815A>G (p.Asp272Gly) c.713A>G (p.Asp238Gly) c.800A>G (p.Asp267Gly) c.*94A>G (n.*94A>G) c.51A>G n.1278A>G c.*582A>G (n.*582A>G) c.902A>G (p.Asp301Gly) c.887A>G (p.Asp296Gly) c.884A>G (p.Asp295Gly) c.797A>G (p.Asp266Gly) c.716A>G (p.Asp239Gly) c.812A>G (p.Asp271Gly) c.-269A>G (n.-269A>G) n.1310A>G c.449A>G (p.Asp150Gly) c.752A>G (p.Asp251Gly) c.464A>G (p.Asp155Gly) c.899A>G (p.Asp300Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71299058T>G | CA371467093 | EYA1 | c.815A>C (p.Asp272Ala) c.713A>C (p.Asp238Ala) c.800A>C (p.Asp267Ala) c.*94A>C (n.*94A>C) c.51A>C n.1278A>C c.*582A>C (n.*582A>C) c.902A>C (p.Asp301Ala) c.887A>C (p.Asp296Ala) c.884A>C (p.Asp295Ala) c.797A>C (p.Asp266Ala) c.716A>C (p.Asp239Ala) c.812A>C (p.Asp271Ala) c.-269A>C (n.-269A>C) n.1310A>C c.449A>C (p.Asp150Ala) c.752A>C (p.Asp251Ala) c.464A>C (p.Asp155Ala) c.899A>C (p.Asp300Ala) | |
8 | g.71299058T= | CA1792728306 | EYA1 | c.815A= (p.Asp272=) c.713A= (p.Asp238=) c.800A= (p.Asp267=) c.*94A= (n.*94A=) c.51A= n.1278A= c.*582A= (n.*582A=) c.902A= (p.Asp301=) c.887A= (p.Asp296=) c.884A= (p.Asp295=) c.797A= (p.Asp266=) c.716A= (p.Asp239=) c.812A= (p.Asp271=) c.-269A= (n.-269A=) n.1310A= c.449A= (p.Asp150=) c.752A= (p.Asp251=) c.464A= (p.Asp155=) c.899A= (p.Asp300=) | |
8 | g.71299059C>A | CA371467097 | EYA1 | c.814G>T (p.Asp272Tyr) c.712G>T (p.Asp238Tyr) c.799G>T (p.Asp267Tyr) c.*93G>T (n.*93G>T) c.50G>T n.1277G>T c.*581G>T (n.*581G>T) c.901G>T (p.Asp301Tyr) c.886G>T (p.Asp296Tyr) c.883G>T (p.Asp295Tyr) c.796G>T (p.Asp266Tyr) c.715G>T (p.Asp239Tyr) c.811G>T (p.Asp271Tyr) c.-270G>T (n.-270G>T) n.1309G>T c.448G>T (p.Asp150Tyr) c.751G>T (p.Asp251Tyr) c.463G>T (p.Asp155Tyr) c.898G>T (p.Asp300Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71299059C= | CA1792728307 | EYA1 | c.814G= (p.Asp272=) c.712G= (p.Asp238=) c.799G= (p.Asp267=) c.*93G= (n.*93G=) c.50G= n.1277G= c.*581G= (n.*581G=) c.901G= (p.Asp301=) c.886G= (p.Asp296=) c.883G= (p.Asp295=) c.796G= (p.Asp266=) c.715G= (p.Asp239=) c.811G= (p.Asp271=) c.-270G= (n.-270G=) n.1309G= c.448G= (p.Asp150=) c.751G= (p.Asp251=) c.463G= (p.Asp155=) c.898G= (p.Asp300=) | |
8 | g.71299059C>G | CA371467095 | EYA1 | c.814G>C (p.Asp272His) c.712G>C (p.Asp238His) c.799G>C (p.Asp267His) c.*93G>C (n.*93G>C) c.50G>C n.1277G>C c.*581G>C (n.*581G>C) c.901G>C (p.Asp301His) c.886G>C (p.Asp296His) c.883G>C (p.Asp295His) c.796G>C (p.Asp266His) c.715G>C (p.Asp239His) c.811G>C (p.Asp271His) c.-270G>C (n.-270G>C) n.1309G>C c.448G>C (p.Asp150His) c.751G>C (p.Asp251His) c.463G>C (p.Asp155His) c.898G>C (p.Asp300His) | |
8 | g.71299059C>T | CA371467096 | EYA1 | c.814G>A (p.Asp272Asn) c.712G>A (p.Asp238Asn) c.799G>A (p.Asp267Asn) c.*93G>A (n.*93G>A) c.50G>A n.1277G>A c.*581G>A (n.*581G>A) c.901G>A (p.Asp301Asn) c.886G>A (p.Asp296Asn) c.883G>A (p.Asp295Asn) c.796G>A (p.Asp266Asn) c.715G>A (p.Asp239Asn) c.811G>A (p.Asp271Asn) c.-270G>A (n.-270G>A) n.1309G>A c.448G>A (p.Asp150Asn) c.751G>A (p.Asp251Asn) c.463G>A (p.Asp155Asn) c.898G>A (p.Asp300Asn) | |
8 | g.71299060T>A | CA461327817 | EYA1 | c.813A>T (p.Thr271=) c.711A>T (p.Thr237=) c.798A>T (p.Thr266=) c.*92A>T (n.*92A>T) c.49A>T n.1276A>T c.*580A>T (n.*580A>T) c.900A>T (p.Thr300=) c.885A>T (p.Thr295=) c.882A>T (p.Thr294=) c.795A>T (p.Thr265=) c.714A>T (p.Thr238=) c.810A>T (p.Thr270=) c.-271A>T (n.-271A>T) n.1308A>T c.447A>T (p.Thr149=) c.750A>T (p.Thr250=) c.462A>T (p.Thr154=) c.897A>T (p.Thr299=) | |
8 | g.71299060T>C | CA142609 | EYA1 | c.813A>G (p.Thr271=) c.711A>G (p.Thr237=) c.798A>G (p.Thr266=) c.*92A>G (n.*92A>G) c.49A>G n.1276A>G c.*580A>G (n.*580A>G) c.900A>G (p.Thr300=) c.885A>G (p.Thr295=) c.882A>G (p.Thr294=) c.795A>G (p.Thr265=) c.714A>G (p.Thr238=) c.810A>G (p.Thr270=) c.-271A>G (n.-271A>G) n.1308A>G c.447A>G (p.Thr149=) c.750A>G (p.Thr250=) c.462A>G (p.Thr154=) c.897A>G (p.Thr299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299060T>G | CA461327818 | EYA1 | c.813A>C (p.Thr271=) c.711A>C (p.Thr237=) c.798A>C (p.Thr266=) c.*92A>C (n.*92A>C) c.49A>C n.1276A>C c.*580A>C (n.*580A>C) c.900A>C (p.Thr300=) c.885A>C (p.Thr295=) c.882A>C (p.Thr294=) c.795A>C (p.Thr265=) c.714A>C (p.Thr238=) c.810A>C (p.Thr270=) c.-271A>C (n.-271A>C) n.1308A>C c.447A>C (p.Thr149=) c.750A>C (p.Thr250=) c.462A>C (p.Thr154=) c.897A>C (p.Thr299=) | |
8 | g.71299060T= | CA1792728308 | EYA1 | c.813A= (p.Thr271=) c.711A= (p.Thr237=) c.798A= (p.Thr266=) c.*92A= (n.*92A=) c.49A= n.1276A= c.*580A= (n.*580A=) c.900A= (p.Thr300=) c.885A= (p.Thr295=) c.882A= (p.Thr294=) c.795A= (p.Thr265=) c.714A= (p.Thr238=) c.810A= (p.Thr270=) c.-271A= (n.-271A=) n.1308A= c.447A= (p.Thr149=) c.750A= (p.Thr250=) c.462A= (p.Thr154=) c.897A= (p.Thr299=) | |
8 | g.71299061G>A | CA4779662 | EYA1 | c.812C>T (p.Thr271Ile) c.710C>T (p.Thr237Ile) c.797C>T (p.Thr266Ile) c.*91C>T (n.*91C>T) c.48C>T n.1275C>T c.*579C>T (n.*579C>T) c.899C>T (p.Thr300Ile) c.884C>T (p.Thr295Ile) c.881C>T (p.Thr294Ile) c.794C>T (p.Thr265Ile) c.713C>T (p.Thr238Ile) c.809C>T (p.Thr270Ile) c.-272C>T (n.-272C>T) n.1307C>T c.446C>T (p.Thr149Ile) c.749C>T (p.Thr250Ile) c.461C>T (p.Thr154Ile) c.896C>T (p.Thr299Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71299061G>C | CA371467098 | EYA1 | c.812C>G (p.Thr271Arg) c.710C>G (p.Thr237Arg) c.797C>G (p.Thr266Arg) c.*91C>G (n.*91C>G) c.48C>G n.1275C>G c.*579C>G (n.*579C>G) c.899C>G (p.Thr300Arg) c.884C>G (p.Thr295Arg) c.881C>G (p.Thr294Arg) c.794C>G (p.Thr265Arg) c.713C>G (p.Thr238Arg) c.809C>G (p.Thr270Arg) c.-272C>G (n.-272C>G) n.1307C>G c.446C>G (p.Thr149Arg) c.749C>G (p.Thr250Arg) c.461C>G (p.Thr154Arg) c.896C>G (p.Thr299Arg) | COSMIC COSMIC |
8 | g.71299061G= | CA1792728309 | EYA1 | c.812C= (p.Thr271=) c.710C= (p.Thr237=) c.797C= (p.Thr266=) c.*91C= (n.*91C=) c.48C= n.1275C= c.*579C= (n.*579C=) c.899C= (p.Thr300=) c.884C= (p.Thr295=) c.881C= (p.Thr294=) c.794C= (p.Thr265=) c.713C= (p.Thr238=) c.809C= (p.Thr270=) c.-272C= (n.-272C=) n.1307C= c.446C= (p.Thr149=) c.749C= (p.Thr250=) c.461C= (p.Thr154=) c.896C= (p.Thr299=) | |
8 | g.71299061G>T | CA371467099 | EYA1 | c.812C>A (p.Thr271Lys) c.710C>A (p.Thr237Lys) c.797C>A (p.Thr266Lys) c.*91C>A (n.*91C>A) c.48C>A n.1275C>A c.*579C>A (n.*579C>A) c.899C>A (p.Thr300Lys) c.884C>A (p.Thr295Lys) c.881C>A (p.Thr294Lys) c.794C>A (p.Thr265Lys) c.713C>A (p.Thr238Lys) c.809C>A (p.Thr270Lys) c.-272C>A (n.-272C>A) n.1307C>A c.446C>A (p.Thr149Lys) c.749C>A (p.Thr250Lys) c.461C>A (p.Thr154Lys) c.896C>A (p.Thr299Lys) | |
8 | g.71299062T>A | CA371467100 | EYA1 | c.811A>T (p.Thr271Ser) c.709A>T (p.Thr237Ser) c.796A>T (p.Thr266Ser) c.*90A>T (n.*90A>T) c.47A>T n.1274A>T c.*578A>T (n.*578A>T) c.898A>T (p.Thr300Ser) c.883A>T (p.Thr295Ser) c.880A>T (p.Thr294Ser) c.793A>T (p.Thr265Ser) c.712A>T (p.Thr238Ser) c.808A>T (p.Thr270Ser) c.-273A>T (n.-273A>T) n.1306A>T c.445A>T (p.Thr149Ser) c.748A>T (p.Thr250Ser) c.460A>T (p.Thr154Ser) c.895A>T (p.Thr299Ser) | ClinVar |
8 | g.71299062T>C | CA371467101 | EYA1 | c.811A>G (p.Thr271Ala) c.709A>G (p.Thr237Ala) c.796A>G (p.Thr266Ala) c.*90A>G (n.*90A>G) c.47A>G n.1274A>G c.*578A>G (n.*578A>G) c.898A>G (p.Thr300Ala) c.883A>G (p.Thr295Ala) c.880A>G (p.Thr294Ala) c.793A>G (p.Thr265Ala) c.712A>G (p.Thr238Ala) c.808A>G (p.Thr270Ala) c.-273A>G (n.-273A>G) n.1306A>G c.445A>G (p.Thr149Ala) c.748A>G (p.Thr250Ala) c.460A>G (p.Thr154Ala) c.895A>G (p.Thr299Ala) | gnomAD v4 |
8 | g.71299062T>G | CA371467102 | EYA1 | c.811A>C (p.Thr271Pro) c.709A>C (p.Thr237Pro) c.796A>C (p.Thr266Pro) c.*90A>C (n.*90A>C) c.47A>C n.1274A>C c.*578A>C (n.*578A>C) c.898A>C (p.Thr300Pro) c.883A>C (p.Thr295Pro) c.880A>C (p.Thr294Pro) c.793A>C (p.Thr265Pro) c.712A>C (p.Thr238Pro) c.808A>C (p.Thr270Pro) c.-273A>C (n.-273A>C) n.1306A>C c.445A>C (p.Thr149Pro) c.748A>C (p.Thr250Pro) c.460A>C (p.Thr154Pro) c.895A>C (p.Thr299Pro) | |
8 | g.71299063A>C | CA461327819 | EYA1 | c.810T>G (p.Val270=) c.708T>G (p.Val236=) c.795T>G (p.Val265=) c.*89T>G (n.*89T>G) c.46T>G n.1273T>G c.*577T>G (n.*577T>G) c.897T>G (p.Val299=) c.882T>G (p.Val294=) c.879T>G (p.Val293=) c.792T>G (p.Val264=) c.711T>G (p.Val237=) c.807T>G (p.Val269=) c.-274T>G (n.-274T>G) n.1305T>G c.444T>G (p.Val148=) c.747T>G (p.Val249=) c.459T>G (p.Val153=) c.894T>G (p.Val298=) | |
8 | g.71299063A>G | CA461327820 | EYA1 | c.810T>C (p.Val270=) c.708T>C (p.Val236=) c.795T>C (p.Val265=) c.*89T>C (n.*89T>C) c.46T>C n.1273T>C c.*577T>C (n.*577T>C) c.897T>C (p.Val299=) c.882T>C (p.Val294=) c.879T>C (p.Val293=) c.792T>C (p.Val264=) c.711T>C (p.Val237=) c.807T>C (p.Val269=) c.-274T>C (n.-274T>C) n.1305T>C c.444T>C (p.Val148=) c.747T>C (p.Val249=) c.459T>C (p.Val153=) c.894T>C (p.Val298=) | |
8 | g.71299063A>T | CA461327821 | EYA1 | c.810T>A (p.Val270=) c.708T>A (p.Val236=) c.795T>A (p.Val265=) c.*89T>A (n.*89T>A) c.46T>A n.1273T>A c.*577T>A (n.*577T>A) c.897T>A (p.Val299=) c.882T>A (p.Val294=) c.879T>A (p.Val293=) c.792T>A (p.Val264=) c.711T>A (p.Val237=) c.807T>A (p.Val269=) c.-274T>A (n.-274T>A) n.1305T>A c.444T>A (p.Val148=) c.747T>A (p.Val249=) c.459T>A (p.Val153=) c.894T>A (p.Val298=) | |
8 | g.71299064A= | CA1792728310 | EYA1 | c.809T= (p.Val270=) c.707T= (p.Val236=) c.794T= (p.Val265=) c.*88T= (n.*88T=) c.45T= n.1272T= c.*576T= (n.*576T=) c.896T= (p.Val299=) c.881T= (p.Val294=) c.878T= (p.Val293=) c.791T= (p.Val264=) c.710T= (p.Val237=) c.806T= (p.Val269=) c.-275T= (n.-275T=) n.1304T= c.443T= (p.Val148=) c.746T= (p.Val249=) c.458T= (p.Val153=) c.893T= (p.Val298=) | |
8 | g.71299064A>C | CA371467103 | EYA1 | c.809T>G (p.Val270Gly) c.707T>G (p.Val236Gly) c.794T>G (p.Val265Gly) c.*88T>G (n.*88T>G) c.45T>G n.1272T>G c.*576T>G (n.*576T>G) c.896T>G (p.Val299Gly) c.881T>G (p.Val294Gly) c.878T>G (p.Val293Gly) c.791T>G (p.Val264Gly) c.710T>G (p.Val237Gly) c.806T>G (p.Val269Gly) c.-275T>G (n.-275T>G) n.1304T>G c.443T>G (p.Val148Gly) c.746T>G (p.Val249Gly) c.458T>G (p.Val153Gly) c.893T>G (p.Val298Gly) | dbSNP gnomAD v4 |
8 | g.71299064A>G | CA371467104 | EYA1 | c.809T>C (p.Val270Ala) c.707T>C (p.Val236Ala) c.794T>C (p.Val265Ala) c.*88T>C (n.*88T>C) c.45T>C n.1272T>C c.*576T>C (n.*576T>C) c.896T>C (p.Val299Ala) c.881T>C (p.Val294Ala) c.878T>C (p.Val293Ala) c.791T>C (p.Val264Ala) c.710T>C (p.Val237Ala) c.806T>C (p.Val269Ala) c.-275T>C (n.-275T>C) n.1304T>C c.443T>C (p.Val148Ala) c.746T>C (p.Val249Ala) c.458T>C (p.Val153Ala) c.893T>C (p.Val298Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299064A>T | CA371467105 | EYA1 | c.809T>A (p.Val270Asp) c.707T>A (p.Val236Asp) c.794T>A (p.Val265Asp) c.*88T>A (n.*88T>A) c.45T>A n.1272T>A c.*576T>A (n.*576T>A) c.896T>A (p.Val299Asp) c.881T>A (p.Val294Asp) c.878T>A (p.Val293Asp) c.791T>A (p.Val264Asp) c.710T>A (p.Val237Asp) c.806T>A (p.Val269Asp) c.-275T>A (n.-275T>A) n.1304T>A c.443T>A (p.Val148Asp) c.746T>A (p.Val249Asp) c.458T>A (p.Val153Asp) c.893T>A (p.Val298Asp) | |
8 | g.71299065C>A | CA371467107 | EYA1 | c.808G>T (p.Val270Phe) c.706G>T (p.Val236Phe) c.793G>T (p.Val265Phe) c.*87G>T (n.*87G>T) c.44G>T n.1271G>T c.*575G>T (n.*575G>T) c.895G>T (p.Val299Phe) c.880G>T (p.Val294Phe) c.877G>T (p.Val293Phe) c.790G>T (p.Val264Phe) c.709G>T (p.Val237Phe) c.805G>T (p.Val269Phe) c.-276G>T (n.-276G>T) n.1303G>T c.442G>T (p.Val148Phe) c.745G>T (p.Val249Phe) c.457G>T (p.Val153Phe) c.892G>T (p.Val298Phe) | gnomAD v4 |
8 | g.71299065C>G | CA371467108 | EYA1 | c.808G>C (p.Val270Leu) c.706G>C (p.Val236Leu) c.793G>C (p.Val265Leu) c.*87G>C (n.*87G>C) c.44G>C n.1271G>C c.*575G>C (n.*575G>C) c.895G>C (p.Val299Leu) c.880G>C (p.Val294Leu) c.877G>C (p.Val293Leu) c.790G>C (p.Val264Leu) c.709G>C (p.Val237Leu) c.805G>C (p.Val269Leu) c.-276G>C (n.-276G>C) n.1303G>C c.442G>C (p.Val148Leu) c.745G>C (p.Val249Leu) c.457G>C (p.Val153Leu) c.892G>C (p.Val298Leu) | |
8 | g.71299065C>T | CA371467106 | EYA1 | c.808G>A (p.Val270Ile) c.706G>A (p.Val236Ile) c.793G>A (p.Val265Ile) c.*87G>A (n.*87G>A) c.44G>A n.1271G>A c.*575G>A (n.*575G>A) c.895G>A (p.Val299Ile) c.880G>A (p.Val294Ile) c.877G>A (p.Val293Ile) c.790G>A (p.Val264Ile) c.709G>A (p.Val237Ile) c.805G>A (p.Val269Ile) c.-276G>A (n.-276G>A) n.1303G>A c.442G>A (p.Val148Ile) c.745G>A (p.Val249Ile) c.457G>A (p.Val153Ile) c.892G>A (p.Val298Ile) | gnomAD v4 |
8 | g.71299066T>A | CA461327822 | EYA1 | c.807A>T (p.Ala269=) c.705A>T (p.Ala235=) c.792A>T (p.Ala264=) c.*86A>T (n.*86A>T) c.43A>T n.1270A>T c.*574A>T (n.*574A>T) c.894A>T (p.Ala298=) c.879A>T (p.Ala293=) c.876A>T (p.Ala292=) c.789A>T (p.Ala263=) c.708A>T (p.Ala236=) c.804A>T (p.Ala268=) c.-277A>T (n.-277A>T) n.1302A>T c.441A>T (p.Ala147=) c.744A>T (p.Ala248=) c.456A>T (p.Ala152=) c.891A>T (p.Ala297=) | |
8 | g.71299066T>C | CA461327823 | EYA1 | c.807A>G (p.Ala269=) c.705A>G (p.Ala235=) c.792A>G (p.Ala264=) c.*86A>G (n.*86A>G) c.43A>G n.1270A>G c.*574A>G (n.*574A>G) c.894A>G (p.Ala298=) c.879A>G (p.Ala293=) c.876A>G (p.Ala292=) c.789A>G (p.Ala263=) c.708A>G (p.Ala236=) c.804A>G (p.Ala268=) c.-277A>G (n.-277A>G) n.1302A>G c.441A>G (p.Ala147=) c.744A>G (p.Ala248=) c.456A>G (p.Ala152=) c.891A>G (p.Ala297=) | |
8 | g.71299066T>G | CA461327824 | EYA1 | c.807A>C (p.Ala269=) c.705A>C (p.Ala235=) c.792A>C (p.Ala264=) c.*86A>C (n.*86A>C) c.43A>C n.1270A>C c.*574A>C (n.*574A>C) c.894A>C (p.Ala298=) c.879A>C (p.Ala293=) c.876A>C (p.Ala292=) c.789A>C (p.Ala263=) c.708A>C (p.Ala236=) c.804A>C (p.Ala268=) c.-277A>C (n.-277A>C) n.1302A>C c.441A>C (p.Ala147=) c.744A>C (p.Ala248=) c.456A>C (p.Ala152=) c.891A>C (p.Ala297=) | COSMIC COSMIC |
8 | g.71299066_71299067delinsTG | CA1792728311 | EYA1 | c.806_807delinsCA (p.Ala269=) c.704_705delinsCA (p.Ala235=) c.791_792delinsCA (p.Ala264=) c.*85_*86delinsCA (n.*85_*86delinsCA) c.42_43delinsCA n.1269_1270delinsCA c.*573_*574delinsCA (n.*573_*574delinsCA) c.893_894delinsCA (p.Ala298=) c.878_879delinsCA (p.Ala293=) c.875_876delinsCA (p.Ala292=) c.788_789delinsCA (p.Ala263=) c.707_708delinsCA (p.Ala236=) c.803_804delinsCA (p.Ala268=) c.-278_-277delinsCA (n.-278_-277delinsCA) n.1301_1302delinsCA c.440_441delinsCA (p.Ala147=) c.743_744delinsCA (p.Ala248=) c.455_456delinsCA (p.Ala152=) c.890_891delinsCA (p.Ala297=) | |
8 | g.71299067del | CA916082999 | EYA1 | c.806del (p.Ala269GlufsTer?) c.704del (p.Ala235GlufsTer?) c.791del (p.Ala264GlufsTer?) c.*85del (n.*85del) c.42del n.1269del c.*573del (n.*573del) c.893del (p.Ala298GlufsTer?) c.878del (p.Ala293GlufsTer?) c.875del (p.Ala292GlufsTer?) c.788del (p.Ala263GlufsTer?) c.707del (p.Ala236GlufsTer?) c.803del (p.Ala268GlufsTer?) c.-278del (n.-278del) n.1301del c.440del (p.Ala147GlufsTer?) c.743del (p.Ala248GlufsTer?) c.455del (p.Ala152GlufsTer?) c.890del (p.Ala297GlufsTer?) | ClinVar dbSNP |
8 | g.71299067G>A | CA371467109 | EYA1 | c.806C>T (p.Ala269Val) c.704C>T (p.Ala235Val) c.791C>T (p.Ala264Val) c.*85C>T (n.*85C>T) c.42C>T n.1269C>T c.*573C>T (n.*573C>T) c.893C>T (p.Ala298Val) c.878C>T (p.Ala293Val) c.875C>T (p.Ala292Val) c.788C>T (p.Ala263Val) c.707C>T (p.Ala236Val) c.803C>T (p.Ala268Val) c.-278C>T (n.-278C>T) n.1301C>T c.440C>T (p.Ala147Val) c.743C>T (p.Ala248Val) c.455C>T (p.Ala152Val) c.890C>T (p.Ala297Val) | |
8 | g.71299067G>C | CA371467110 | EYA1 | c.806C>G (p.Ala269Gly) c.704C>G (p.Ala235Gly) c.791C>G (p.Ala264Gly) c.*85C>G (n.*85C>G) c.42C>G n.1269C>G c.*573C>G (n.*573C>G) c.893C>G (p.Ala298Gly) c.878C>G (p.Ala293Gly) c.875C>G (p.Ala292Gly) c.788C>G (p.Ala263Gly) c.707C>G (p.Ala236Gly) c.803C>G (p.Ala268Gly) c.-278C>G (n.-278C>G) n.1301C>G c.440C>G (p.Ala147Gly) c.743C>G (p.Ala248Gly) c.455C>G (p.Ala152Gly) c.890C>G (p.Ala297Gly) | |
8 | g.71299067G= | CA1792728312 | EYA1 | c.806C= (p.Ala269=) c.704C= (p.Ala235=) c.791C= (p.Ala264=) c.*85C= (n.*85C=) c.42C= n.1269C= c.*573C= (n.*573C=) c.893C= (p.Ala298=) c.878C= (p.Ala293=) c.875C= (p.Ala292=) c.788C= (p.Ala263=) c.707C= (p.Ala236=) c.803C= (p.Ala268=) c.-278C= (n.-278C=) n.1301C= c.440C= (p.Ala147=) c.743C= (p.Ala248=) c.455C= (p.Ala152=) c.890C= (p.Ala297=) | |
8 | g.71299067G>T | CA4779663 | EYA1 | c.806C>A (p.Ala269Glu) c.704C>A (p.Ala235Glu) c.791C>A (p.Ala264Glu) c.*85C>A (n.*85C>A) c.42C>A n.1269C>A c.*573C>A (n.*573C>A) c.893C>A (p.Ala298Glu) c.878C>A (p.Ala293Glu) c.875C>A (p.Ala292Glu) c.788C>A (p.Ala263Glu) c.707C>A (p.Ala236Glu) c.803C>A (p.Ala268Glu) c.-278C>A (n.-278C>A) n.1301C>A c.440C>A (p.Ala147Glu) c.743C>A (p.Ala248Glu) c.455C>A (p.Ala152Glu) c.890C>A (p.Ala297Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299068C>A | CA371467111 | EYA1 | c.805G>T (p.Ala269Ser) c.703G>T (p.Ala235Ser) c.790G>T (p.Ala264Ser) c.*84G>T (n.*84G>T) c.41G>T n.1268G>T c.*572G>T (n.*572G>T) c.892G>T (p.Ala298Ser) c.877G>T (p.Ala293Ser) c.874G>T (p.Ala292Ser) c.787G>T (p.Ala263Ser) c.706G>T (p.Ala236Ser) c.802G>T (p.Ala268Ser) c.-279G>T (n.-279G>T) n.1300G>T c.439G>T (p.Ala147Ser) c.742G>T (p.Ala248Ser) c.454G>T (p.Ala152Ser) c.889G>T (p.Ala297Ser) | |
8 | g.71299068C>G | CA371467112 | EYA1 | c.805G>C (p.Ala269Pro) c.703G>C (p.Ala235Pro) c.790G>C (p.Ala264Pro) c.*84G>C (n.*84G>C) c.41G>C n.1268G>C c.*572G>C (n.*572G>C) c.892G>C (p.Ala298Pro) c.877G>C (p.Ala293Pro) c.874G>C (p.Ala292Pro) c.787G>C (p.Ala263Pro) c.706G>C (p.Ala236Pro) c.802G>C (p.Ala268Pro) c.-279G>C (n.-279G>C) n.1300G>C c.439G>C (p.Ala147Pro) c.742G>C (p.Ala248Pro) c.454G>C (p.Ala152Pro) c.889G>C (p.Ala297Pro) | |
8 | g.71299068C>T | CA371467113 | EYA1 | c.805G>A (p.Ala269Thr) c.703G>A (p.Ala235Thr) c.790G>A (p.Ala264Thr) c.*84G>A (n.*84G>A) c.41G>A n.1268G>A c.*572G>A (n.*572G>A) c.892G>A (p.Ala298Thr) c.877G>A (p.Ala293Thr) c.874G>A (p.Ala292Thr) c.787G>A (p.Ala263Thr) c.706G>A (p.Ala236Thr) c.802G>A (p.Ala268Thr) c.-279G>A (n.-279G>A) n.1300G>A c.439G>A (p.Ala147Thr) c.742G>A (p.Ala248Thr) c.454G>A (p.Ala152Thr) c.889G>A (p.Ala297Thr) | |
8 | g.71299069T>A | CA371467114 | EYA1 | c.804A>T (p.Gln268His) c.702A>T (p.Gln234His) c.789A>T (p.Gln263His) c.*83A>T (n.*83A>T) c.40A>T n.1267A>T c.*571A>T (n.*571A>T) c.891A>T (p.Gln297His) c.876A>T (p.Gln292His) c.873A>T (p.Gln291His) c.786A>T (p.Gln262His) c.705A>T (p.Gln235His) c.801A>T (p.Gln267His) c.-280A>T (n.-280A>T) n.1299A>T c.438A>T (p.Gln146His) c.741A>T (p.Gln247His) c.453A>T (p.Gln151His) c.888A>T (p.Gln296His) | |
8 | g.71299069T>C | CA461327825 | EYA1 | c.804A>G (p.Gln268=) c.702A>G (p.Gln234=) c.789A>G (p.Gln263=) c.*83A>G (n.*83A>G) c.40A>G n.1267A>G c.*571A>G (n.*571A>G) c.891A>G (p.Gln297=) c.876A>G (p.Gln292=) c.873A>G (p.Gln291=) c.786A>G (p.Gln262=) c.705A>G (p.Gln235=) c.801A>G (p.Gln267=) c.-280A>G (n.-280A>G) n.1299A>G c.438A>G (p.Gln146=) c.741A>G (p.Gln247=) c.453A>G (p.Gln151=) c.888A>G (p.Gln296=) | dbSNP gnomAD v2 |
8 | g.71299069T>G | CA371467115 | EYA1 | c.804A>C (p.Gln268His) c.702A>C (p.Gln234His) c.789A>C (p.Gln263His) c.*83A>C (n.*83A>C) c.40A>C n.1267A>C c.*571A>C (n.*571A>C) c.891A>C (p.Gln297His) c.876A>C (p.Gln292His) c.873A>C (p.Gln291His) c.786A>C (p.Gln262His) c.705A>C (p.Gln235His) c.801A>C (p.Gln267His) c.-280A>C (n.-280A>C) n.1299A>C c.438A>C (p.Gln146His) c.741A>C (p.Gln247His) c.453A>C (p.Gln151His) c.888A>C (p.Gln296His) | |
8 | g.71299069T= | CA1792728313 | EYA1 | c.804A= (p.Gln268=) c.702A= (p.Gln234=) c.789A= (p.Gln263=) c.*83A= (n.*83A=) c.40A= n.1267A= c.*571A= (n.*571A=) c.891A= (p.Gln297=) c.876A= (p.Gln292=) c.873A= (p.Gln291=) c.786A= (p.Gln262=) c.705A= (p.Gln235=) c.801A= (p.Gln267=) c.-280A= (n.-280A=) n.1299A= c.438A= (p.Gln146=) c.741A= (p.Gln247=) c.453A= (p.Gln151=) c.888A= (p.Gln296=) | |
8 | g.71299070T>A | CA371467116 | EYA1 | c.803A>T (p.Gln268Leu) c.701A>T (p.Gln234Leu) c.788A>T (p.Gln263Leu) c.*82A>T (n.*82A>T) c.39A>T n.1266A>T c.*570A>T (n.*570A>T) c.890A>T (p.Gln297Leu) c.875A>T (p.Gln292Leu) c.872A>T (p.Gln291Leu) c.785A>T (p.Gln262Leu) c.704A>T (p.Gln235Leu) c.800A>T (p.Gln267Leu) c.-281A>T (n.-281A>T) n.1298A>T c.437A>T (p.Gln146Leu) c.740A>T (p.Gln247Leu) c.452A>T (p.Gln151Leu) c.887A>T (p.Gln296Leu) | |
8 | g.71299070T>C | CA371467117 | EYA1 | c.803A>G (p.Gln268Arg) c.701A>G (p.Gln234Arg) c.788A>G (p.Gln263Arg) c.*82A>G (n.*82A>G) c.39A>G n.1266A>G c.*570A>G (n.*570A>G) c.890A>G (p.Gln297Arg) c.875A>G (p.Gln292Arg) c.872A>G (p.Gln291Arg) c.785A>G (p.Gln262Arg) c.704A>G (p.Gln235Arg) c.800A>G (p.Gln267Arg) c.-281A>G (n.-281A>G) n.1298A>G c.437A>G (p.Gln146Arg) c.740A>G (p.Gln247Arg) c.452A>G (p.Gln151Arg) c.887A>G (p.Gln296Arg) | |
8 | g.71299070T>G | CA371467118 | EYA1 | c.803A>C (p.Gln268Pro) c.701A>C (p.Gln234Pro) c.788A>C (p.Gln263Pro) c.*82A>C (n.*82A>C) c.39A>C n.1266A>C c.*570A>C (n.*570A>C) c.890A>C (p.Gln297Pro) c.875A>C (p.Gln292Pro) c.872A>C (p.Gln291Pro) c.785A>C (p.Gln262Pro) c.704A>C (p.Gln235Pro) c.800A>C (p.Gln267Pro) c.-281A>C (n.-281A>C) n.1298A>C c.437A>C (p.Gln146Pro) c.740A>C (p.Gln247Pro) c.452A>C (p.Gln151Pro) c.887A>C (p.Gln296Pro) | |
8 | g.71299071G>A | CA371467119 | EYA1 | c.802C>T (p.Gln268Ter) c.700C>T (p.Gln234Ter) c.787C>T (p.Gln263Ter) c.*81C>T (n.*81C>T) c.38C>T n.1265C>T c.*569C>T (n.*569C>T) c.889C>T (p.Gln297Ter) c.874C>T (p.Gln292Ter) c.871C>T (p.Gln291Ter) c.784C>T (p.Gln262Ter) c.703C>T (p.Gln235Ter) c.799C>T (p.Gln267Ter) c.-282C>T (n.-282C>T) n.1297C>T c.436C>T (p.Gln146Ter) c.739C>T (p.Gln247Ter) c.451C>T (p.Gln151Ter) c.886C>T (p.Gln296Ter) | |
8 | g.71299071G>C | CA371467120 | EYA1 | c.802C>G (p.Gln268Glu) c.700C>G (p.Gln234Glu) c.787C>G (p.Gln263Glu) c.*81C>G (n.*81C>G) c.38C>G n.1265C>G c.*569C>G (n.*569C>G) c.889C>G (p.Gln297Glu) c.874C>G (p.Gln292Glu) c.871C>G (p.Gln291Glu) c.784C>G (p.Gln262Glu) c.703C>G (p.Gln235Glu) c.799C>G (p.Gln267Glu) c.-282C>G (n.-282C>G) n.1297C>G c.436C>G (p.Gln146Glu) c.739C>G (p.Gln247Glu) c.451C>G (p.Gln151Glu) c.886C>G (p.Gln296Glu) | |
8 | g.71299071G>T | CA371467121 | EYA1 | c.802C>A (p.Gln268Lys) c.700C>A (p.Gln234Lys) c.787C>A (p.Gln263Lys) c.*81C>A (n.*81C>A) c.38C>A n.1265C>A c.*569C>A (n.*569C>A) c.889C>A (p.Gln297Lys) c.874C>A (p.Gln292Lys) c.871C>A (p.Gln291Lys) c.784C>A (p.Gln262Lys) c.703C>A (p.Gln235Lys) c.799C>A (p.Gln267Lys) c.-282C>A (n.-282C>A) n.1297C>A c.436C>A (p.Gln146Lys) c.739C>A (p.Gln247Lys) c.451C>A (p.Gln151Lys) c.886C>A (p.Gln296Lys) | |
8 | g.71299072G>A | CA461327826 | EYA1 | c.801C>T (p.Ser267=) c.699C>T (p.Ser233=) c.786C>T (p.Ser262=) c.*80C>T (n.*80C>T) c.37C>T n.1264C>T c.*568C>T (n.*568C>T) c.888C>T (p.Ser296=) c.873C>T (p.Ser291=) c.870C>T (p.Ser290=) c.783C>T (p.Ser261=) c.702C>T (p.Ser234=) c.798C>T (p.Ser266=) c.-283C>T (n.-283C>T) n.1296C>T c.435C>T (p.Ser145=) c.738C>T (p.Ser246=) c.450C>T (p.Ser150=) c.885C>T (p.Ser295=) | gnomAD v4 |
8 | g.71299072G>C | CA371467122 | EYA1 | c.801C>G (p.Ser267Arg) c.699C>G (p.Ser233Arg) c.786C>G (p.Ser262Arg) c.*80C>G (n.*80C>G) c.37C>G n.1264C>G c.*568C>G (n.*568C>G) c.888C>G (p.Ser296Arg) c.873C>G (p.Ser291Arg) c.870C>G (p.Ser290Arg) c.783C>G (p.Ser261Arg) c.702C>G (p.Ser234Arg) c.798C>G (p.Ser266Arg) c.-283C>G (n.-283C>G) n.1296C>G c.435C>G (p.Ser145Arg) c.738C>G (p.Ser246Arg) c.450C>G (p.Ser150Arg) c.885C>G (p.Ser295Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299072G= | CA1792728314 | EYA1 | c.801C= (p.Ser267=) c.699C= (p.Ser233=) c.786C= (p.Ser262=) c.*80C= (n.*80C=) c.37C= n.1264C= c.*568C= (n.*568C=) c.888C= (p.Ser296=) c.873C= (p.Ser291=) c.870C= (p.Ser290=) c.783C= (p.Ser261=) c.702C= (p.Ser234=) c.798C= (p.Ser266=) c.-283C= (n.-283C=) n.1296C= c.435C= (p.Ser145=) c.738C= (p.Ser246=) c.450C= (p.Ser150=) c.885C= (p.Ser295=) | |
8 | g.71299072G>T | CA371467123 | EYA1 | c.801C>A (p.Ser267Arg) c.699C>A (p.Ser233Arg) c.786C>A (p.Ser262Arg) c.*80C>A (n.*80C>A) c.37C>A n.1264C>A c.*568C>A (n.*568C>A) c.888C>A (p.Ser296Arg) c.873C>A (p.Ser291Arg) c.870C>A (p.Ser290Arg) c.783C>A (p.Ser261Arg) c.702C>A (p.Ser234Arg) c.798C>A (p.Ser266Arg) c.-283C>A (n.-283C>A) n.1296C>A c.435C>A (p.Ser145Arg) c.738C>A (p.Ser246Arg) c.450C>A (p.Ser150Arg) c.885C>A (p.Ser295Arg) | |
8 | g.71299073C>A | CA371467124 | EYA1 | c.800G>T (p.Ser267Ile) c.698G>T (p.Ser233Ile) c.785G>T (p.Ser262Ile) c.*79G>T (n.*79G>T) c.36G>T n.1263G>T c.*567G>T (n.*567G>T) c.887G>T (p.Ser296Ile) c.872G>T (p.Ser291Ile) c.869G>T (p.Ser290Ile) c.782G>T (p.Ser261Ile) c.701G>T (p.Ser234Ile) c.797G>T (p.Ser266Ile) c.-284G>T (n.-284G>T) n.1295G>T c.434G>T (p.Ser145Ile) c.737G>T (p.Ser246Ile) c.449G>T (p.Ser150Ile) c.884G>T (p.Ser295Ile) | |
8 | g.71299073C>G | CA371467125 | EYA1 | c.800G>C (p.Ser267Thr) c.698G>C (p.Ser233Thr) c.785G>C (p.Ser262Thr) c.*79G>C (n.*79G>C) c.36G>C n.1263G>C c.*567G>C (n.*567G>C) c.887G>C (p.Ser296Thr) c.872G>C (p.Ser291Thr) c.869G>C (p.Ser290Thr) c.782G>C (p.Ser261Thr) c.701G>C (p.Ser234Thr) c.797G>C (p.Ser266Thr) c.-284G>C (n.-284G>C) n.1295G>C c.434G>C (p.Ser145Thr) c.737G>C (p.Ser246Thr) c.449G>C (p.Ser150Thr) c.884G>C (p.Ser295Thr) | |
8 | g.71299073C>T | CA371467126 | EYA1 | c.800G>A (p.Ser267Asn) c.698G>A (p.Ser233Asn) c.785G>A (p.Ser262Asn) c.*79G>A (n.*79G>A) c.36G>A n.1263G>A c.*567G>A (n.*567G>A) c.887G>A (p.Ser296Asn) c.872G>A (p.Ser291Asn) c.869G>A (p.Ser290Asn) c.782G>A (p.Ser261Asn) c.701G>A (p.Ser234Asn) c.797G>A (p.Ser266Asn) c.-284G>A (n.-284G>A) n.1295G>A c.434G>A (p.Ser145Asn) c.737G>A (p.Ser246Asn) c.449G>A (p.Ser150Asn) c.884G>A (p.Ser295Asn) | gnomAD v4 COSMIC COSMIC |
8 | g.71299074T>A | CA371467127 | EYA1 | c.799A>T (p.Ser267Cys) c.697A>T (p.Ser233Cys) c.784A>T (p.Ser262Cys) c.*78A>T (n.*78A>T) c.35A>T n.1262A>T c.*566A>T (n.*566A>T) c.886A>T (p.Ser296Cys) c.871A>T (p.Ser291Cys) c.868A>T (p.Ser290Cys) c.781A>T (p.Ser261Cys) c.700A>T (p.Ser234Cys) c.796A>T (p.Ser266Cys) c.-285A>T (n.-285A>T) n.1294A>T c.433A>T (p.Ser145Cys) c.736A>T (p.Ser246Cys) c.448A>T (p.Ser150Cys) c.883A>T (p.Ser295Cys) | |
8 | g.71299074T>C | CA4779664 | EYA1 | c.799A>G (p.Ser267Gly) c.697A>G (p.Ser233Gly) c.784A>G (p.Ser262Gly) c.*78A>G (n.*78A>G) c.35A>G n.1262A>G c.*566A>G (n.*566A>G) c.886A>G (p.Ser296Gly) c.871A>G (p.Ser291Gly) c.868A>G (p.Ser290Gly) c.781A>G (p.Ser261Gly) c.700A>G (p.Ser234Gly) c.796A>G (p.Ser266Gly) c.-285A>G (n.-285A>G) n.1294A>G c.433A>G (p.Ser145Gly) c.736A>G (p.Ser246Gly) c.448A>G (p.Ser150Gly) c.883A>G (p.Ser295Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71299074T>G | CA371467128 | EYA1 | c.799A>C (p.Ser267Arg) c.697A>C (p.Ser233Arg) c.784A>C (p.Ser262Arg) c.*78A>C (n.*78A>C) c.35A>C n.1262A>C c.*566A>C (n.*566A>C) c.886A>C (p.Ser296Arg) c.871A>C (p.Ser291Arg) c.868A>C (p.Ser290Arg) c.781A>C (p.Ser261Arg) c.700A>C (p.Ser234Arg) c.796A>C (p.Ser266Arg) c.-285A>C (n.-285A>C) n.1294A>C c.433A>C (p.Ser145Arg) c.736A>C (p.Ser246Arg) c.448A>C (p.Ser150Arg) c.883A>C (p.Ser295Arg) | |
8 | g.71299074T= | CA1792728315 | EYA1 | c.799A= (p.Ser267=) c.697A= (p.Ser233=) c.784A= (p.Ser262=) c.*78A= (n.*78A=) c.35A= n.1262A= c.*566A= (n.*566A=) c.886A= (p.Ser296=) c.871A= (p.Ser291=) c.868A= (p.Ser290=) c.781A= (p.Ser261=) c.700A= (p.Ser234=) c.796A= (p.Ser266=) c.-285A= (n.-285A=) n.1294A= c.433A= (p.Ser145=) c.736A= (p.Ser246=) c.448A= (p.Ser150=) c.883A= (p.Ser295=) | |
8 | g.71299075G>A | CA461327827 | EYA1 | c.798C>T (p.Thr266=) c.696C>T (p.Thr232=) c.783C>T (p.Thr261=) c.*77C>T (n.*77C>T) c.34C>T n.1261C>T c.*565C>T (n.*565C>T) c.885C>T (p.Thr295=) c.870C>T (p.Thr290=) c.867C>T (p.Thr289=) c.780C>T (p.Thr260=) c.699C>T (p.Thr233=) c.795C>T (p.Thr265=) c.-286C>T (n.-286C>T) n.1293C>T c.432C>T (p.Thr144=) c.735C>T (p.Thr245=) c.447C>T (p.Thr149=) c.882C>T (p.Thr294=) | dbSNP |
8 | g.71299075G>C | CA461327828 | EYA1 | c.798C>G (p.Thr266=) c.696C>G (p.Thr232=) c.783C>G (p.Thr261=) c.*77C>G (n.*77C>G) c.34C>G n.1261C>G c.*565C>G (n.*565C>G) c.885C>G (p.Thr295=) c.870C>G (p.Thr290=) c.867C>G (p.Thr289=) c.780C>G (p.Thr260=) c.699C>G (p.Thr233=) c.795C>G (p.Thr265=) c.-286C>G (n.-286C>G) n.1293C>G c.432C>G (p.Thr144=) c.735C>G (p.Thr245=) c.447C>G (p.Thr149=) c.882C>G (p.Thr294=) | |
8 | g.71299075G= | CA1792728316 | EYA1 | c.798C= (p.Thr266=) c.696C= (p.Thr232=) c.783C= (p.Thr261=) c.*77C= (n.*77C=) c.34C= n.1261C= c.*565C= (n.*565C=) c.885C= (p.Thr295=) c.870C= (p.Thr290=) c.867C= (p.Thr289=) c.780C= (p.Thr260=) c.699C= (p.Thr233=) c.795C= (p.Thr265=) c.-286C= (n.-286C=) n.1293C= c.432C= (p.Thr144=) c.735C= (p.Thr245=) c.447C= (p.Thr149=) c.882C= (p.Thr294=) | |
8 | g.71299075G>T | CA461327829 | EYA1 | c.798C>A (p.Thr266=) c.696C>A (p.Thr232=) c.783C>A (p.Thr261=) c.*77C>A (n.*77C>A) c.34C>A n.1261C>A c.*565C>A (n.*565C>A) c.885C>A (p.Thr295=) c.870C>A (p.Thr290=) c.867C>A (p.Thr289=) c.780C>A (p.Thr260=) c.699C>A (p.Thr233=) c.795C>A (p.Thr265=) c.-286C>A (n.-286C>A) n.1293C>A c.432C>A (p.Thr144=) c.735C>A (p.Thr245=) c.447C>A (p.Thr149=) c.882C>A (p.Thr294=) | |
8 | g.71299076G>A | CA371467129 | EYA1 | c.797C>T (p.Thr266Ile) c.695C>T (p.Thr232Ile) c.782C>T (p.Thr261Ile) c.*76C>T (n.*76C>T) c.33C>T n.1260C>T c.*564C>T (n.*564C>T) c.884C>T (p.Thr295Ile) c.869C>T (p.Thr290Ile) c.866C>T (p.Thr289Ile) c.779C>T (p.Thr260Ile) c.698C>T (p.Thr233Ile) c.794C>T (p.Thr265Ile) c.-287C>T (n.-287C>T) n.1292C>T c.431C>T (p.Thr144Ile) c.734C>T (p.Thr245Ile) c.446C>T (p.Thr149Ile) c.881C>T (p.Thr294Ile) | |
8 | g.71299076G>C | CA371467130 | EYA1 | c.797C>G (p.Thr266Ser) c.695C>G (p.Thr232Ser) c.782C>G (p.Thr261Ser) c.*76C>G (n.*76C>G) c.33C>G n.1260C>G c.*564C>G (n.*564C>G) c.884C>G (p.Thr295Ser) c.869C>G (p.Thr290Ser) c.866C>G (p.Thr289Ser) c.779C>G (p.Thr260Ser) c.698C>G (p.Thr233Ser) c.794C>G (p.Thr265Ser) c.-287C>G (n.-287C>G) n.1292C>G c.431C>G (p.Thr144Ser) c.734C>G (p.Thr245Ser) c.446C>G (p.Thr149Ser) c.881C>G (p.Thr294Ser) | dbSNP |
8 | g.71299076G= | CA1792728317 | EYA1 | c.797C= (p.Thr266=) c.695C= (p.Thr232=) c.782C= (p.Thr261=) c.*76C= (n.*76C=) c.33C= n.1260C= c.*564C= (n.*564C=) c.884C= (p.Thr295=) c.869C= (p.Thr290=) c.866C= (p.Thr289=) c.779C= (p.Thr260=) c.698C= (p.Thr233=) c.794C= (p.Thr265=) c.-287C= (n.-287C=) n.1292C= c.431C= (p.Thr144=) c.734C= (p.Thr245=) c.446C= (p.Thr149=) c.881C= (p.Thr294=) | |
8 | g.71299076G>T | CA371467131 | EYA1 | c.797C>A (p.Thr266Asn) c.695C>A (p.Thr232Asn) c.782C>A (p.Thr261Asn) c.*76C>A (n.*76C>A) c.33C>A n.1260C>A c.*564C>A (n.*564C>A) c.884C>A (p.Thr295Asn) c.869C>A (p.Thr290Asn) c.866C>A (p.Thr289Asn) c.779C>A (p.Thr260Asn) c.698C>A (p.Thr233Asn) c.794C>A (p.Thr265Asn) c.-287C>A (n.-287C>A) n.1292C>A c.431C>A (p.Thr144Asn) c.734C>A (p.Thr245Asn) c.446C>A (p.Thr149Asn) c.881C>A (p.Thr294Asn) | |
8 | g.71299077T>A | CA371467132 | EYA1 | c.796A>T (p.Thr266Ser) c.694A>T (p.Thr232Ser) c.781A>T (p.Thr261Ser) c.*75A>T (n.*75A>T) c.32A>T n.1259A>T c.*563A>T (n.*563A>T) c.883A>T (p.Thr295Ser) c.868A>T (p.Thr290Ser) c.865A>T (p.Thr289Ser) c.778A>T (p.Thr260Ser) c.697A>T (p.Thr233Ser) c.793A>T (p.Thr265Ser) c.-288A>T (n.-288A>T) n.1291A>T c.430A>T (p.Thr144Ser) c.733A>T (p.Thr245Ser) c.445A>T (p.Thr149Ser) c.880A>T (p.Thr294Ser) | |
8 | g.71299077T>C | CA371467133 | EYA1 | c.796A>G (p.Thr266Ala) c.694A>G (p.Thr232Ala) c.781A>G (p.Thr261Ala) c.*75A>G (n.*75A>G) c.32A>G n.1259A>G c.*563A>G (n.*563A>G) c.883A>G (p.Thr295Ala) c.868A>G (p.Thr290Ala) c.865A>G (p.Thr289Ala) c.778A>G (p.Thr260Ala) c.697A>G (p.Thr233Ala) c.793A>G (p.Thr265Ala) c.-288A>G (n.-288A>G) n.1291A>G c.430A>G (p.Thr144Ala) c.733A>G (p.Thr245Ala) c.445A>G (p.Thr149Ala) c.880A>G (p.Thr294Ala) | gnomAD v4 |
8 | g.71299077T>G | CA371467134 | EYA1 | c.796A>C (p.Thr266Pro) c.694A>C (p.Thr232Pro) c.781A>C (p.Thr261Pro) c.*75A>C (n.*75A>C) c.32A>C n.1259A>C c.*563A>C (n.*563A>C) c.883A>C (p.Thr295Pro) c.868A>C (p.Thr290Pro) c.865A>C (p.Thr289Pro) c.778A>C (p.Thr260Pro) c.697A>C (p.Thr233Pro) c.793A>C (p.Thr265Pro) c.-288A>C (n.-288A>C) n.1291A>C c.430A>C (p.Thr144Pro) c.733A>C (p.Thr245Pro) c.445A>C (p.Thr149Pro) c.880A>C (p.Thr294Pro) | |
8 | g.71299078G>A | CA461327830 | EYA1 | c.795C>T (p.Ile265=) c.693C>T (p.Ile231=) c.780C>T (p.Ile260=) c.*74C>T (n.*74C>T) c.31C>T n.1258C>T c.*562C>T (n.*562C>T) c.882C>T (p.Ile294=) c.867C>T (p.Ile289=) c.864C>T (p.Ile288=) c.777C>T (p.Ile259=) c.696C>T (p.Ile232=) c.792C>T (p.Ile264=) c.-289C>T (n.-289C>T) n.1290C>T c.429C>T (p.Ile143=) c.732C>T (p.Ile244=) c.444C>T (p.Ile148=) c.879C>T (p.Ile293=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299078G>C | CA371467135 | EYA1 | c.795C>G (p.Ile265Met) c.693C>G (p.Ile231Met) c.780C>G (p.Ile260Met) c.*74C>G (n.*74C>G) c.31C>G n.1258C>G c.*562C>G (n.*562C>G) c.882C>G (p.Ile294Met) c.867C>G (p.Ile289Met) c.864C>G (p.Ile288Met) c.777C>G (p.Ile259Met) c.696C>G (p.Ile232Met) c.792C>G (p.Ile264Met) c.-289C>G (n.-289C>G) n.1290C>G c.429C>G (p.Ile143Met) c.732C>G (p.Ile244Met) c.444C>G (p.Ile148Met) c.879C>G (p.Ile293Met) | |
8 | g.71299078G= | CA1792728318 | EYA1 | c.795C= (p.Ile265=) c.693C= (p.Ile231=) c.780C= (p.Ile260=) c.*74C= (n.*74C=) c.31C= n.1258C= c.*562C= (n.*562C=) c.882C= (p.Ile294=) c.867C= (p.Ile289=) c.864C= (p.Ile288=) c.777C= (p.Ile259=) c.696C= (p.Ile232=) c.792C= (p.Ile264=) c.-289C= (n.-289C=) n.1290C= c.429C= (p.Ile143=) c.732C= (p.Ile244=) c.444C= (p.Ile148=) c.879C= (p.Ile293=) | |
8 | g.71299078G>T | CA461327831 | EYA1 | c.795C>A (p.Ile265=) c.693C>A (p.Ile231=) c.780C>A (p.Ile260=) c.*74C>A (n.*74C>A) c.31C>A n.1258C>A c.*562C>A (n.*562C>A) c.882C>A (p.Ile294=) c.867C>A (p.Ile289=) c.864C>A (p.Ile288=) c.777C>A (p.Ile259=) c.696C>A (p.Ile232=) c.792C>A (p.Ile264=) c.-289C>A (n.-289C>A) n.1290C>A c.429C>A (p.Ile143=) c.732C>A (p.Ile244=) c.444C>A (p.Ile148=) c.879C>A (p.Ile293=) | |
8 | g.71299079A>C | CA371467138 | EYA1 | c.794T>G (p.Ile265Ser) c.692T>G (p.Ile231Ser) c.779T>G (p.Ile260Ser) c.*73T>G (n.*73T>G) c.30T>G n.1257T>G c.*561T>G (n.*561T>G) c.881T>G (p.Ile294Ser) c.866T>G (p.Ile289Ser) c.863T>G (p.Ile288Ser) c.776T>G (p.Ile259Ser) c.695T>G (p.Ile232Ser) c.791T>G (p.Ile264Ser) c.-290T>G (n.-290T>G) n.1289T>G c.428T>G (p.Ile143Ser) c.731T>G (p.Ile244Ser) c.443T>G (p.Ile148Ser) c.878T>G (p.Ile293Ser) | |
8 | g.71299079A>G | CA371467136 | EYA1 | c.794T>C (p.Ile265Thr) c.692T>C (p.Ile231Thr) c.779T>C (p.Ile260Thr) c.*73T>C (n.*73T>C) c.30T>C n.1257T>C c.*561T>C (n.*561T>C) c.881T>C (p.Ile294Thr) c.866T>C (p.Ile289Thr) c.863T>C (p.Ile288Thr) c.776T>C (p.Ile259Thr) c.695T>C (p.Ile232Thr) c.791T>C (p.Ile264Thr) c.-290T>C (n.-290T>C) n.1289T>C c.428T>C (p.Ile143Thr) c.731T>C (p.Ile244Thr) c.443T>C (p.Ile148Thr) c.878T>C (p.Ile293Thr) | COSMIC COSMIC |
8 | g.71299079A>T | CA371467137 | EYA1 | c.794T>A (p.Ile265Asn) c.692T>A (p.Ile231Asn) c.779T>A (p.Ile260Asn) c.*73T>A (n.*73T>A) c.30T>A n.1257T>A c.*561T>A (n.*561T>A) c.881T>A (p.Ile294Asn) c.866T>A (p.Ile289Asn) c.863T>A (p.Ile288Asn) c.776T>A (p.Ile259Asn) c.695T>A (p.Ile232Asn) c.791T>A (p.Ile264Asn) c.-290T>A (n.-290T>A) n.1289T>A c.428T>A (p.Ile143Asn) c.731T>A (p.Ile244Asn) c.443T>A (p.Ile148Asn) c.878T>A (p.Ile293Asn) | |
8 | g.71299080T>A | CA371467139 | EYA1 | c.793A>T (p.Ile265Phe) c.691A>T (p.Ile231Phe) c.778A>T (p.Ile260Phe) c.*72A>T (n.*72A>T) c.29A>T n.1256A>T c.*560A>T (n.*560A>T) c.880A>T (p.Ile294Phe) c.865A>T (p.Ile289Phe) c.862A>T (p.Ile288Phe) c.775A>T (p.Ile259Phe) c.694A>T (p.Ile232Phe) c.790A>T (p.Ile264Phe) c.-291A>T (n.-291A>T) n.1288A>T c.427A>T (p.Ile143Phe) c.730A>T (p.Ile244Phe) c.442A>T (p.Ile148Phe) c.877A>T (p.Ile293Phe) | |
8 | g.71299080T>C | CA371467140 | EYA1 | c.793A>G (p.Ile265Val) c.691A>G (p.Ile231Val) c.778A>G (p.Ile260Val) c.*72A>G (n.*72A>G) c.29A>G n.1256A>G c.*560A>G (n.*560A>G) c.880A>G (p.Ile294Val) c.865A>G (p.Ile289Val) c.862A>G (p.Ile288Val) c.775A>G (p.Ile259Val) c.694A>G (p.Ile232Val) c.790A>G (p.Ile264Val) c.-291A>G (n.-291A>G) n.1288A>G c.427A>G (p.Ile143Val) c.730A>G (p.Ile244Val) c.442A>G (p.Ile148Val) c.877A>G (p.Ile293Val) | |
8 | g.71299080T>G | CA371467141 | EYA1 | c.793A>C (p.Ile265Leu) c.691A>C (p.Ile231Leu) c.778A>C (p.Ile260Leu) c.*72A>C (n.*72A>C) c.29A>C n.1256A>C c.*560A>C (n.*560A>C) c.880A>C (p.Ile294Leu) c.865A>C (p.Ile289Leu) c.862A>C (p.Ile288Leu) c.775A>C (p.Ile259Leu) c.694A>C (p.Ile232Leu) c.790A>C (p.Ile264Leu) c.-291A>C (n.-291A>C) n.1288A>C c.427A>C (p.Ile143Leu) c.730A>C (p.Ile244Leu) c.442A>C (p.Ile148Leu) c.877A>C (p.Ile293Leu) | dbSNP |
8 | g.71299080T= | CA1792728319 | EYA1 | c.793A= (p.Ile265=) c.691A= (p.Ile231=) c.778A= (p.Ile260=) c.*72A= (n.*72A=) c.29A= n.1256A= c.*560A= (n.*560A=) c.880A= (p.Ile294=) c.865A= (p.Ile289=) c.862A= (p.Ile288=) c.775A= (p.Ile259=) c.694A= (p.Ile232=) c.790A= (p.Ile264=) c.-291A= (n.-291A=) n.1288A= c.427A= (p.Ile143=) c.730A= (p.Ile244=) c.442A= (p.Ile148=) c.877A= (p.Ile293=) | |
8 | g.71299081G>A | CA461327832 | EYA1 | c.792C>T (p.Gly264=) c.690C>T (p.Gly230=) c.777C>T (p.Gly259=) c.*71C>T (n.*71C>T) c.28C>T n.1255C>T c.*559C>T (n.*559C>T) c.879C>T (p.Gly293=) c.864C>T (p.Gly288=) c.861C>T (p.Gly287=) c.774C>T (p.Gly258=) c.693C>T (p.Gly231=) c.789C>T (p.Gly263=) c.-292C>T (n.-292C>T) n.1287C>T c.426C>T (p.Gly142=) c.729C>T (p.Gly243=) c.441C>T (p.Gly147=) c.876C>T (p.Gly292=) | |
8 | g.71299081G>C | CA461327833 | EYA1 | c.792C>G (p.Gly264=) c.690C>G (p.Gly230=) c.777C>G (p.Gly259=) c.*71C>G (n.*71C>G) c.28C>G n.1255C>G c.*559C>G (n.*559C>G) c.879C>G (p.Gly293=) c.864C>G (p.Gly288=) c.861C>G (p.Gly287=) c.774C>G (p.Gly258=) c.693C>G (p.Gly231=) c.789C>G (p.Gly263=) c.-292C>G (n.-292C>G) n.1287C>G c.426C>G (p.Gly142=) c.729C>G (p.Gly243=) c.441C>G (p.Gly147=) c.876C>G (p.Gly292=) | |
8 | g.71299081G>T | CA461327834 | EYA1 | c.792C>A (p.Gly264=) c.690C>A (p.Gly230=) c.777C>A (p.Gly259=) c.*71C>A (n.*71C>A) c.28C>A n.1255C>A c.*559C>A (n.*559C>A) c.879C>A (p.Gly293=) c.864C>A (p.Gly288=) c.861C>A (p.Gly287=) c.774C>A (p.Gly258=) c.693C>A (p.Gly231=) c.789C>A (p.Gly263=) c.-292C>A (n.-292C>A) n.1287C>A c.426C>A (p.Gly142=) c.729C>A (p.Gly243=) c.441C>A (p.Gly147=) c.876C>A (p.Gly292=) | |
8 | g.71299082C>A | CA4779665 | EYA1 | c.791G>T (p.Gly264Val) c.689G>T (p.Gly230Val) c.776G>T (p.Gly259Val) c.*70G>T (n.*70G>T) c.27G>T n.1254G>T c.*558G>T (n.*558G>T) c.878G>T (p.Gly293Val) c.863G>T (p.Gly288Val) c.860G>T (p.Gly287Val) c.773G>T (p.Gly258Val) c.692G>T (p.Gly231Val) c.788G>T (p.Gly263Val) c.-293G>T (n.-293G>T) n.1286G>T c.425G>T (p.Gly142Val) c.728G>T (p.Gly243Val) c.440G>T (p.Gly147Val) c.875G>T (p.Gly292Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299082C= | CA1792728320 | EYA1 | c.791G= (p.Gly264=) c.689G= (p.Gly230=) c.776G= (p.Gly259=) c.*70G= (n.*70G=) c.27G= n.1254G= c.*558G= (n.*558G=) c.878G= (p.Gly293=) c.863G= (p.Gly288=) c.860G= (p.Gly287=) c.773G= (p.Gly258=) c.692G= (p.Gly231=) c.788G= (p.Gly263=) c.-293G= (n.-293G=) n.1286G= c.425G= (p.Gly142=) c.728G= (p.Gly243=) c.440G= (p.Gly147=) c.875G= (p.Gly292=) | |
8 | g.71299082C>G | CA371467142 | EYA1 | c.791G>C (p.Gly264Ala) c.689G>C (p.Gly230Ala) c.776G>C (p.Gly259Ala) c.*70G>C (n.*70G>C) c.27G>C n.1254G>C c.*558G>C (n.*558G>C) c.878G>C (p.Gly293Ala) c.863G>C (p.Gly288Ala) c.860G>C (p.Gly287Ala) c.773G>C (p.Gly258Ala) c.692G>C (p.Gly231Ala) c.788G>C (p.Gly263Ala) c.-293G>C (n.-293G>C) n.1286G>C c.425G>C (p.Gly142Ala) c.728G>C (p.Gly243Ala) c.440G>C (p.Gly147Ala) c.875G>C (p.Gly292Ala) | |
8 | g.71299082C>T | CA371467143 | EYA1 | c.791G>A (p.Gly264Asp) c.689G>A (p.Gly230Asp) c.776G>A (p.Gly259Asp) c.*70G>A (n.*70G>A) c.27G>A n.1254G>A c.*558G>A (n.*558G>A) c.878G>A (p.Gly293Asp) c.863G>A (p.Gly288Asp) c.860G>A (p.Gly287Asp) c.773G>A (p.Gly258Asp) c.692G>A (p.Gly231Asp) c.788G>A (p.Gly263Asp) c.-293G>A (n.-293G>A) n.1286G>A c.425G>A (p.Gly142Asp) c.728G>A (p.Gly243Asp) c.440G>A (p.Gly147Asp) c.875G>A (p.Gly292Asp) | gnomAD v3 gnomAD v4 |
8 | g.71299083C>A | CA371467144 | EYA1 | c.790G>T (p.Gly264Cys) c.688G>T (p.Gly230Cys) c.775G>T (p.Gly259Cys) c.*69G>T (n.*69G>T) c.26G>T n.1253G>T c.*557G>T (n.*557G>T) c.877G>T (p.Gly293Cys) c.862G>T (p.Gly288Cys) c.859G>T (p.Gly287Cys) c.772G>T (p.Gly258Cys) c.691G>T (p.Gly231Cys) c.787G>T (p.Gly263Cys) c.-294G>T (n.-294G>T) n.1285G>T c.424G>T (p.Gly142Cys) c.727G>T (p.Gly243Cys) c.439G>T (p.Gly147Cys) c.874G>T (p.Gly292Cys) | |
8 | g.71299083C>G | CA371467145 | EYA1 | c.790G>C (p.Gly264Arg) c.688G>C (p.Gly230Arg) c.775G>C (p.Gly259Arg) c.*69G>C (n.*69G>C) c.26G>C n.1253G>C c.*557G>C (n.*557G>C) c.877G>C (p.Gly293Arg) c.862G>C (p.Gly288Arg) c.859G>C (p.Gly287Arg) c.772G>C (p.Gly258Arg) c.691G>C (p.Gly231Arg) c.787G>C (p.Gly263Arg) c.-294G>C (n.-294G>C) n.1285G>C c.424G>C (p.Gly142Arg) c.727G>C (p.Gly243Arg) c.439G>C (p.Gly147Arg) c.874G>C (p.Gly292Arg) | |
8 | g.71299083C>T | CA371467146 | EYA1 | c.790G>A (p.Gly264Ser) c.688G>A (p.Gly230Ser) c.775G>A (p.Gly259Ser) c.*69G>A (n.*69G>A) c.26G>A n.1253G>A c.*557G>A (n.*557G>A) c.877G>A (p.Gly293Ser) c.862G>A (p.Gly288Ser) c.859G>A (p.Gly287Ser) c.772G>A (p.Gly258Ser) c.691G>A (p.Gly231Ser) c.787G>A (p.Gly263Ser) c.-294G>A (n.-294G>A) n.1285G>A c.424G>A (p.Gly142Ser) c.727G>A (p.Gly243Ser) c.439G>A (p.Gly147Ser) c.874G>A (p.Gly292Ser) | |
8 | g.71299084A>C | CA461327835 | EYA1 | c.789T>G (p.Ser263=) c.687T>G (p.Ser229=) c.774T>G (p.Ser258=) c.*68T>G (n.*68T>G) c.25T>G n.1252T>G c.*556T>G (n.*556T>G) c.876T>G (p.Ser292=) c.861T>G (p.Ser287=) c.858T>G (p.Ser286=) c.771T>G (p.Ser257=) c.690T>G (p.Ser230=) c.786T>G (p.Ser262=) c.-295T>G (n.-295T>G) n.1284T>G c.423T>G (p.Ser141=) c.726T>G (p.Ser242=) c.438T>G (p.Ser146=) c.873T>G (p.Ser291=) | |
8 | g.71299084A>G | CA461327836 | EYA1 | c.789T>C (p.Ser263=) c.687T>C (p.Ser229=) c.774T>C (p.Ser258=) c.*68T>C (n.*68T>C) c.25T>C n.1252T>C c.*556T>C (n.*556T>C) c.876T>C (p.Ser292=) c.861T>C (p.Ser287=) c.858T>C (p.Ser286=) c.771T>C (p.Ser257=) c.690T>C (p.Ser230=) c.786T>C (p.Ser262=) c.-295T>C (n.-295T>C) n.1284T>C c.423T>C (p.Ser141=) c.726T>C (p.Ser242=) c.438T>C (p.Ser146=) c.873T>C (p.Ser291=) | |
8 | g.71299084A>T | CA461327837 | EYA1 | c.789T>A (p.Ser263=) c.687T>A (p.Ser229=) c.774T>A (p.Ser258=) c.*68T>A (n.*68T>A) c.25T>A n.1252T>A c.*556T>A (n.*556T>A) c.876T>A (p.Ser292=) c.861T>A (p.Ser287=) c.858T>A (p.Ser286=) c.771T>A (p.Ser257=) c.690T>A (p.Ser230=) c.786T>A (p.Ser262=) c.-295T>A (n.-295T>A) n.1284T>A c.423T>A (p.Ser141=) c.726T>A (p.Ser242=) c.438T>A (p.Ser146=) c.873T>A (p.Ser291=) | |
8 | g.71299085G>A | CA371467147 | EYA1 | c.788C>T (p.Ser263Phe) c.686C>T (p.Ser229Phe) c.773C>T (p.Ser258Phe) c.*67C>T (n.*67C>T) c.24C>T n.1251C>T c.*555C>T (n.*555C>T) c.875C>T (p.Ser292Phe) c.860C>T (p.Ser287Phe) c.857C>T (p.Ser286Phe) c.770C>T (p.Ser257Phe) c.689C>T (p.Ser230Phe) c.785C>T (p.Ser262Phe) c.-296C>T (n.-296C>T) n.1283C>T c.422C>T (p.Ser141Phe) c.725C>T (p.Ser242Phe) c.437C>T (p.Ser146Phe) c.872C>T (p.Ser291Phe) | |
8 | g.71299085G>C | CA371467148 | EYA1 | c.788C>G (p.Ser263Cys) c.686C>G (p.Ser229Cys) c.773C>G (p.Ser258Cys) c.*67C>G (n.*67C>G) c.24C>G n.1251C>G c.*555C>G (n.*555C>G) c.875C>G (p.Ser292Cys) c.860C>G (p.Ser287Cys) c.857C>G (p.Ser286Cys) c.770C>G (p.Ser257Cys) c.689C>G (p.Ser230Cys) c.785C>G (p.Ser262Cys) c.-296C>G (n.-296C>G) n.1283C>G c.422C>G (p.Ser141Cys) c.725C>G (p.Ser242Cys) c.437C>G (p.Ser146Cys) c.872C>G (p.Ser291Cys) | |
8 | g.71299085G>T | CA371467149 | EYA1 | c.788C>A (p.Ser263Tyr) c.686C>A (p.Ser229Tyr) c.773C>A (p.Ser258Tyr) c.*67C>A (n.*67C>A) c.24C>A n.1251C>A c.*555C>A (n.*555C>A) c.875C>A (p.Ser292Tyr) c.860C>A (p.Ser287Tyr) c.857C>A (p.Ser286Tyr) c.770C>A (p.Ser257Tyr) c.689C>A (p.Ser230Tyr) c.785C>A (p.Ser262Tyr) c.-296C>A (n.-296C>A) n.1283C>A c.422C>A (p.Ser141Tyr) c.725C>A (p.Ser242Tyr) c.437C>A (p.Ser146Tyr) c.872C>A (p.Ser291Tyr) | |
8 | g.71299086A= | CA1792728321 | EYA1 | c.787T= (p.Ser263=) c.685T= (p.Ser229=) c.772T= (p.Ser258=) c.*66T= (n.*66T=) c.23T= n.1250T= c.*554T= (n.*554T=) c.874T= (p.Ser292=) c.859T= (p.Ser287=) c.856T= (p.Ser286=) c.769T= (p.Ser257=) c.688T= (p.Ser230=) c.784T= (p.Ser262=) c.-297T= (n.-297T=) n.1282T= c.421T= (p.Ser141=) c.724T= (p.Ser242=) c.436T= (p.Ser146=) c.871T= (p.Ser291=) | |
8 | g.71299086A>C | CA371467152 | EYA1 | c.787T>G (p.Ser263Ala) c.685T>G (p.Ser229Ala) c.772T>G (p.Ser258Ala) c.*66T>G (n.*66T>G) c.23T>G n.1250T>G c.*554T>G (n.*554T>G) c.874T>G (p.Ser292Ala) c.859T>G (p.Ser287Ala) c.856T>G (p.Ser286Ala) c.769T>G (p.Ser257Ala) c.688T>G (p.Ser230Ala) c.784T>G (p.Ser262Ala) c.-297T>G (n.-297T>G) n.1282T>G c.421T>G (p.Ser141Ala) c.724T>G (p.Ser242Ala) c.436T>G (p.Ser146Ala) c.871T>G (p.Ser291Ala) | |
8 | g.71299086A>G | CA371467151 | EYA1 | c.787T>C (p.Ser263Pro) c.685T>C (p.Ser229Pro) c.772T>C (p.Ser258Pro) c.*66T>C (n.*66T>C) c.23T>C n.1250T>C c.*554T>C (n.*554T>C) c.874T>C (p.Ser292Pro) c.859T>C (p.Ser287Pro) c.856T>C (p.Ser286Pro) c.769T>C (p.Ser257Pro) c.688T>C (p.Ser230Pro) c.784T>C (p.Ser262Pro) c.-297T>C (n.-297T>C) n.1282T>C c.421T>C (p.Ser141Pro) c.724T>C (p.Ser242Pro) c.436T>C (p.Ser146Pro) c.871T>C (p.Ser291Pro) | dbSNP |
8 | g.71299086A>T | CA371467150 | EYA1 | c.787T>A (p.Ser263Thr) c.685T>A (p.Ser229Thr) c.772T>A (p.Ser258Thr) c.*66T>A (n.*66T>A) c.23T>A n.1250T>A c.*554T>A (n.*554T>A) c.874T>A (p.Ser292Thr) c.859T>A (p.Ser287Thr) c.856T>A (p.Ser286Thr) c.769T>A (p.Ser257Thr) c.688T>A (p.Ser230Thr) c.784T>A (p.Ser262Thr) c.-297T>A (n.-297T>A) n.1282T>A c.421T>A (p.Ser141Thr) c.724T>A (p.Ser242Thr) c.436T>A (p.Ser146Thr) c.871T>A (p.Ser291Thr) | |
8 | g.71299087T>A | CA461327838 | EYA1 | c.786A>T (p.Pro262=) c.684A>T (p.Pro228=) c.771A>T (p.Pro257=) c.*65A>T (n.*65A>T) c.22A>T n.1249A>T c.*553A>T (n.*553A>T) c.873A>T (p.Pro291=) c.858A>T (p.Pro286=) c.855A>T (p.Pro285=) c.768A>T (p.Pro256=) c.687A>T (p.Pro229=) c.783A>T (p.Pro261=) c.-298A>T (n.-298A>T) n.1281A>T c.420A>T (p.Pro140=) c.723A>T (p.Pro241=) c.435A>T (p.Pro145=) c.870A>T (p.Pro290=) | dbSNP gnomAD v4 |
8 | g.71299087T>C | CA461327839 | EYA1 | c.786A>G (p.Pro262=) c.684A>G (p.Pro228=) c.771A>G (p.Pro257=) c.*65A>G (n.*65A>G) c.22A>G n.1249A>G c.*553A>G (n.*553A>G) c.873A>G (p.Pro291=) c.858A>G (p.Pro286=) c.855A>G (p.Pro285=) c.768A>G (p.Pro256=) c.687A>G (p.Pro229=) c.783A>G (p.Pro261=) c.-298A>G (n.-298A>G) n.1281A>G c.420A>G (p.Pro140=) c.723A>G (p.Pro241=) c.435A>G (p.Pro145=) c.870A>G (p.Pro290=) | gnomAD v4 |
8 | g.71299087T>G | CA461327840 | EYA1 | c.786A>C (p.Pro262=) c.684A>C (p.Pro228=) c.771A>C (p.Pro257=) c.*65A>C (n.*65A>C) c.22A>C n.1249A>C c.*553A>C (n.*553A>C) c.873A>C (p.Pro291=) c.858A>C (p.Pro286=) c.855A>C (p.Pro285=) c.768A>C (p.Pro256=) c.687A>C (p.Pro229=) c.783A>C (p.Pro261=) c.-298A>C (n.-298A>C) n.1281A>C c.420A>C (p.Pro140=) c.723A>C (p.Pro241=) c.435A>C (p.Pro145=) c.870A>C (p.Pro290=) | |
8 | g.71299087T= | CA1792728322 | EYA1 | c.786A= (p.Pro262=) c.684A= (p.Pro228=) c.771A= (p.Pro257=) c.*65A= (n.*65A=) c.22A= n.1249A= c.*553A= (n.*553A=) c.873A= (p.Pro291=) c.858A= (p.Pro286=) c.855A= (p.Pro285=) c.768A= (p.Pro256=) c.687A= (p.Pro229=) c.783A= (p.Pro261=) c.-298A= (n.-298A=) n.1281A= c.420A= (p.Pro140=) c.723A= (p.Pro241=) c.435A= (p.Pro145=) c.870A= (p.Pro290=) | |
8 | g.71299088G>A | CA371467153 | EYA1 | c.785C>T (p.Pro262Leu) c.683C>T (p.Pro228Leu) c.770C>T (p.Pro257Leu) c.*64C>T (n.*64C>T) c.21C>T n.1248C>T c.*552C>T (n.*552C>T) c.872C>T (p.Pro291Leu) c.857C>T (p.Pro286Leu) c.854C>T (p.Pro285Leu) c.767C>T (p.Pro256Leu) c.686C>T (p.Pro229Leu) c.782C>T (p.Pro261Leu) c.-299C>T (n.-299C>T) n.1280C>T c.419C>T (p.Pro140Leu) c.722C>T (p.Pro241Leu) c.434C>T (p.Pro145Leu) c.869C>T (p.Pro290Leu) | |
8 | g.71299088G>C | CA371467155 | EYA1 | c.785C>G (p.Pro262Arg) c.683C>G (p.Pro228Arg) c.770C>G (p.Pro257Arg) c.*64C>G (n.*64C>G) c.21C>G n.1248C>G c.*552C>G (n.*552C>G) c.872C>G (p.Pro291Arg) c.857C>G (p.Pro286Arg) c.854C>G (p.Pro285Arg) c.767C>G (p.Pro256Arg) c.686C>G (p.Pro229Arg) c.782C>G (p.Pro261Arg) c.-299C>G (n.-299C>G) n.1280C>G c.419C>G (p.Pro140Arg) c.722C>G (p.Pro241Arg) c.434C>G (p.Pro145Arg) c.869C>G (p.Pro290Arg) | |
8 | g.71299088G>T | CA371467154 | EYA1 | c.785C>A (p.Pro262Gln) c.683C>A (p.Pro228Gln) c.770C>A (p.Pro257Gln) c.*64C>A (n.*64C>A) c.21C>A n.1248C>A c.*552C>A (n.*552C>A) c.872C>A (p.Pro291Gln) c.857C>A (p.Pro286Gln) c.854C>A (p.Pro285Gln) c.767C>A (p.Pro256Gln) c.686C>A (p.Pro229Gln) c.782C>A (p.Pro261Gln) c.-299C>A (n.-299C>A) n.1280C>A c.419C>A (p.Pro140Gln) c.722C>A (p.Pro241Gln) c.434C>A (p.Pro145Gln) c.869C>A (p.Pro290Gln) | |
8 | g.71299089G>A | CA371467156 | EYA1 | c.784C>T (p.Pro262Ser) c.682C>T (p.Pro228Ser) c.769C>T (p.Pro257Ser) c.*63C>T (n.*63C>T) c.20C>T n.1247C>T c.*551C>T (n.*551C>T) c.871C>T (p.Pro291Ser) c.856C>T (p.Pro286Ser) c.853C>T (p.Pro285Ser) c.766C>T (p.Pro256Ser) c.685C>T (p.Pro229Ser) c.781C>T (p.Pro261Ser) c.-300C>T (n.-300C>T) n.1279C>T c.418C>T (p.Pro140Ser) c.721C>T (p.Pro241Ser) c.433C>T (p.Pro145Ser) c.868C>T (p.Pro290Ser) | COSMIC COSMIC |
8 | g.71299089G>C | CA371467158 | EYA1 | c.784C>G (p.Pro262Ala) c.682C>G (p.Pro228Ala) c.769C>G (p.Pro257Ala) c.*63C>G (n.*63C>G) c.20C>G n.1247C>G c.*551C>G (n.*551C>G) c.871C>G (p.Pro291Ala) c.856C>G (p.Pro286Ala) c.853C>G (p.Pro285Ala) c.766C>G (p.Pro256Ala) c.685C>G (p.Pro229Ala) c.781C>G (p.Pro261Ala) c.-300C>G (n.-300C>G) n.1279C>G c.418C>G (p.Pro140Ala) c.721C>G (p.Pro241Ala) c.433C>G (p.Pro145Ala) c.868C>G (p.Pro290Ala) | |
8 | g.71299089G>T | CA371467157 | EYA1 | c.784C>A (p.Pro262Thr) c.682C>A (p.Pro228Thr) c.769C>A (p.Pro257Thr) c.*63C>A (n.*63C>A) c.20C>A n.1247C>A c.*551C>A (n.*551C>A) c.871C>A (p.Pro291Thr) c.856C>A (p.Pro286Thr) c.853C>A (p.Pro285Thr) c.766C>A (p.Pro256Thr) c.685C>A (p.Pro229Thr) c.781C>A (p.Pro261Thr) c.-300C>A (n.-300C>A) n.1279C>A c.418C>A (p.Pro140Thr) c.721C>A (p.Pro241Thr) c.433C>A (p.Pro145Thr) c.868C>A (p.Pro290Thr) | |
8 | g.71299090C>A | CA4779667 | EYA1 | c.783G>T (p.Pro261=) c.681G>T (p.Pro227=) c.768G>T (p.Pro256=) c.*62G>T (n.*62G>T) c.19G>T n.1246G>T c.*550G>T (n.*550G>T) c.870G>T (p.Pro290=) c.855G>T (p.Pro285=) c.852G>T (p.Pro284=) c.765G>T (p.Pro255=) c.684G>T (p.Pro228=) c.780G>T (p.Pro260=) c.-301G>T (n.-301G>T) n.1278G>T c.417G>T (p.Pro139=) c.720G>T (p.Pro240=) c.432G>T (p.Pro144=) c.867G>T (p.Pro289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71299090C= | CA1792728323 | EYA1 | c.783G= (p.Pro261=) c.681G= (p.Pro227=) c.768G= (p.Pro256=) c.*62G= (n.*62G=) c.19G= n.1246G= c.*550G= (n.*550G=) c.870G= (p.Pro290=) c.855G= (p.Pro285=) c.852G= (p.Pro284=) c.765G= (p.Pro255=) c.684G= (p.Pro228=) c.780G= (p.Pro260=) c.-301G= (n.-301G=) n.1278G= c.417G= (p.Pro139=) c.720G= (p.Pro240=) c.432G= (p.Pro144=) c.867G= (p.Pro289=) | |
8 | g.71299090C>G | CA461327841 | EYA1 | c.783G>C (p.Pro261=) c.681G>C (p.Pro227=) c.768G>C (p.Pro256=) c.*62G>C (n.*62G>C) c.19G>C n.1246G>C c.*550G>C (n.*550G>C) c.870G>C (p.Pro290=) c.855G>C (p.Pro285=) c.852G>C (p.Pro284=) c.765G>C (p.Pro255=) c.684G>C (p.Pro228=) c.780G>C (p.Pro260=) c.-301G>C (n.-301G>C) n.1278G>C c.417G>C (p.Pro139=) c.720G>C (p.Pro240=) c.432G>C (p.Pro144=) c.867G>C (p.Pro289=) | |
8 | g.71299090C>T | CA4779666 | EYA1 | c.783G>A (p.Pro261=) c.681G>A (p.Pro227=) c.768G>A (p.Pro256=) c.*62G>A (n.*62G>A) c.19G>A n.1246G>A c.*550G>A (n.*550G>A) c.870G>A (p.Pro290=) c.855G>A (p.Pro285=) c.852G>A (p.Pro284=) c.765G>A (p.Pro255=) c.684G>A (p.Pro228=) c.780G>A (p.Pro260=) c.-301G>A (n.-301G>A) n.1278G>A c.417G>A (p.Pro139=) c.720G>A (p.Pro240=) c.432G>A (p.Pro144=) c.867G>A (p.Pro289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.71299091G>A | CA4779668 | EYA1 | c.782C>T (p.Pro261Leu) c.680C>T (p.Pro227Leu) c.767C>T (p.Pro256Leu) c.*61C>T (n.*61C>T) c.18C>T n.1245C>T c.*549C>T (n.*549C>T) c.869C>T (p.Pro290Leu) c.854C>T (p.Pro285Leu) c.851C>T (p.Pro284Leu) c.764C>T (p.Pro255Leu) c.683C>T (p.Pro228Leu) c.779C>T (p.Pro260Leu) c.-302C>T (n.-302C>T) n.1277C>T c.416C>T (p.Pro139Leu) c.719C>T (p.Pro240Leu) c.431C>T (p.Pro144Leu) c.866C>T (p.Pro289Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299091G>C | CA371467159 | EYA1 | c.782C>G (p.Pro261Arg) c.680C>G (p.Pro227Arg) c.767C>G (p.Pro256Arg) c.*61C>G (n.*61C>G) c.18C>G n.1245C>G c.*549C>G (n.*549C>G) c.869C>G (p.Pro290Arg) c.854C>G (p.Pro285Arg) c.851C>G (p.Pro284Arg) c.764C>G (p.Pro255Arg) c.683C>G (p.Pro228Arg) c.779C>G (p.Pro260Arg) c.-302C>G (n.-302C>G) n.1277C>G c.416C>G (p.Pro139Arg) c.719C>G (p.Pro240Arg) c.431C>G (p.Pro144Arg) c.866C>G (p.Pro289Arg) | |
8 | g.71299091G= | CA1792728324 | EYA1 | c.782C= (p.Pro261=) c.680C= (p.Pro227=) c.767C= (p.Pro256=) c.*61C= (n.*61C=) c.18C= n.1245C= c.*549C= (n.*549C=) c.869C= (p.Pro290=) c.854C= (p.Pro285=) c.851C= (p.Pro284=) c.764C= (p.Pro255=) c.683C= (p.Pro228=) c.779C= (p.Pro260=) c.-302C= (n.-302C=) n.1277C= c.416C= (p.Pro139=) c.719C= (p.Pro240=) c.431C= (p.Pro144=) c.866C= (p.Pro289=) | |
8 | g.71299091G>T | CA4779669 | EYA1 | c.782C>A (p.Pro261Gln) c.680C>A (p.Pro227Gln) c.767C>A (p.Pro256Gln) c.*61C>A (n.*61C>A) c.18C>A n.1245C>A c.*549C>A (n.*549C>A) c.869C>A (p.Pro290Gln) c.854C>A (p.Pro285Gln) c.851C>A (p.Pro284Gln) c.764C>A (p.Pro255Gln) c.683C>A (p.Pro228Gln) c.779C>A (p.Pro260Gln) c.-302C>A (n.-302C>A) n.1277C>A c.416C>A (p.Pro139Gln) c.719C>A (p.Pro240Gln) c.431C>A (p.Pro144Gln) c.866C>A (p.Pro289Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299092del | CA2573143313 | EYA1 | c.782del (p.Pro261ArgfsTer?) c.680del (p.Pro227ArgfsTer?) c.767del (p.Pro256ArgfsTer?) c.*61del (n.*61del) c.18del n.1245del c.*549del (n.*549del) c.869del (p.Pro290ArgfsTer?) c.854del (p.Pro285ArgfsTer?) c.851del (p.Pro284ArgfsTer?) c.764del (p.Pro255ArgfsTer?) c.683del (p.Pro228ArgfsTer?) c.779del (p.Pro260ArgfsTer?) c.-302del (n.-302del) n.1277del c.416del (p.Pro139ArgfsTer?) c.719del (p.Pro240ArgfsTer?) c.431del (p.Pro144ArgfsTer?) c.866del (p.Pro289ArgfsTer?) | ClinVar dbSNP |
8 | g.71299092G>A | CA371467160 | EYA1 | c.781C>T (p.Pro261Ser) c.679C>T (p.Pro227Ser) c.766C>T (p.Pro256Ser) c.*60C>T (n.*60C>T) c.17C>T n.1244C>T c.*548C>T (n.*548C>T) c.868C>T (p.Pro290Ser) c.853C>T (p.Pro285Ser) c.850C>T (p.Pro284Ser) c.763C>T (p.Pro255Ser) c.682C>T (p.Pro228Ser) c.778C>T (p.Pro260Ser) c.-303C>T (n.-303C>T) n.1276C>T c.415C>T (p.Pro139Ser) c.718C>T (p.Pro240Ser) c.430C>T (p.Pro144Ser) c.865C>T (p.Pro289Ser) | |
8 | g.71299092G>C | CA371467161 | EYA1 | c.781C>G (p.Pro261Ala) c.679C>G (p.Pro227Ala) c.766C>G (p.Pro256Ala) c.*60C>G (n.*60C>G) c.17C>G n.1244C>G c.*548C>G (n.*548C>G) c.868C>G (p.Pro290Ala) c.853C>G (p.Pro285Ala) c.850C>G (p.Pro284Ala) c.763C>G (p.Pro255Ala) c.682C>G (p.Pro228Ala) c.778C>G (p.Pro260Ala) c.-303C>G (n.-303C>G) n.1276C>G c.415C>G (p.Pro139Ala) c.718C>G (p.Pro240Ala) c.430C>G (p.Pro144Ala) c.865C>G (p.Pro289Ala) | COSMIC COSMIC |
8 | g.71299092G= | CA1792728325 | EYA1 | c.781C= (p.Pro261=) c.679C= (p.Pro227=) c.766C= (p.Pro256=) c.*60C= (n.*60C=) c.17C= n.1244C= c.*548C= (n.*548C=) c.868C= (p.Pro290=) c.853C= (p.Pro285=) c.850C= (p.Pro284=) c.763C= (p.Pro255=) c.682C= (p.Pro228=) c.778C= (p.Pro260=) c.-303C= (n.-303C=) n.1276C= c.415C= (p.Pro139=) c.718C= (p.Pro240=) c.430C= (p.Pro144=) c.865C= (p.Pro289=) | |
8 | g.71299092G>T | CA4779670 | EYA1 | c.781C>A (p.Pro261Thr) c.679C>A (p.Pro227Thr) c.766C>A (p.Pro256Thr) c.*60C>A (n.*60C>A) c.17C>A n.1244C>A c.*548C>A (n.*548C>A) c.868C>A (p.Pro290Thr) c.853C>A (p.Pro285Thr) c.850C>A (p.Pro284Thr) c.763C>A (p.Pro255Thr) c.682C>A (p.Pro228Thr) c.778C>A (p.Pro260Thr) c.-303C>A (n.-303C>A) n.1276C>A c.415C>A (p.Pro139Thr) c.718C>A (p.Pro240Thr) c.430C>A (p.Pro144Thr) c.865C>A (p.Pro289Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.71299093T>A | CA371467162 | EYA1 | c.780A>T (p.Glu260Asp) c.678A>T (p.Glu226Asp) c.765A>T (p.Glu255Asp) c.*59A>T (n.*59A>T) c.16A>T n.1243A>T c.*547A>T (n.*547A>T) c.867A>T (p.Glu289Asp) c.852A>T (p.Glu284Asp) c.849A>T (p.Glu283Asp) c.762A>T (p.Glu254Asp) c.681A>T (p.Glu227Asp) c.777A>T (p.Glu259Asp) c.-304A>T (n.-304A>T) n.1275A>T c.414A>T (p.Glu138Asp) c.717A>T (p.Glu239Asp) c.429A>T (p.Glu143Asp) c.864A>T (p.Glu288Asp) | |
8 | g.71299093T>C | CA461327842 | EYA1 | c.780A>G (p.Glu260=) c.678A>G (p.Glu226=) c.765A>G (p.Glu255=) c.*59A>G (n.*59A>G) c.16A>G n.1243A>G c.*547A>G (n.*547A>G) c.867A>G (p.Glu289=) c.852A>G (p.Glu284=) c.849A>G (p.Glu283=) c.762A>G (p.Glu254=) c.681A>G (p.Glu227=) c.777A>G (p.Glu259=) c.-304A>G (n.-304A>G) n.1275A>G c.414A>G (p.Glu138=) c.717A>G (p.Glu239=) c.429A>G (p.Glu143=) c.864A>G (p.Glu288=) | |
8 | g.71299093T>G | CA371467163 | EYA1 | c.780A>C (p.Glu260Asp) c.678A>C (p.Glu226Asp) c.765A>C (p.Glu255Asp) c.*59A>C (n.*59A>C) c.16A>C n.1243A>C c.*547A>C (n.*547A>C) c.867A>C (p.Glu289Asp) c.852A>C (p.Glu284Asp) c.849A>C (p.Glu283Asp) c.762A>C (p.Glu254Asp) c.681A>C (p.Glu227Asp) c.777A>C (p.Glu259Asp) c.-304A>C (n.-304A>C) n.1275A>C c.414A>C (p.Glu138Asp) c.717A>C (p.Glu239Asp) c.429A>C (p.Glu143Asp) c.864A>C (p.Glu288Asp) | |
8 | g.71299094T>A | CA4779671 | EYA1 | c.779A>T (p.Glu260Val) c.677A>T (p.Glu226Val) c.764A>T (p.Glu255Val) c.*58A>T (n.*58A>T) c.15A>T n.1242A>T c.*546A>T (n.*546A>T) c.866A>T (p.Glu289Val) c.851A>T (p.Glu284Val) c.848A>T (p.Glu283Val) c.761A>T (p.Glu254Val) c.680A>T (p.Glu227Val) c.776A>T (p.Glu259Val) c.-305A>T (n.-305A>T) n.1274A>T c.413A>T (p.Glu138Val) c.716A>T (p.Glu239Val) c.428A>T (p.Glu143Val) c.863A>T (p.Glu288Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299094T>C | CA371467164 | EYA1 | c.779A>G (p.Glu260Gly) c.677A>G (p.Glu226Gly) c.764A>G (p.Glu255Gly) c.*58A>G (n.*58A>G) c.15A>G n.1242A>G c.*546A>G (n.*546A>G) c.866A>G (p.Glu289Gly) c.851A>G (p.Glu284Gly) c.848A>G (p.Glu283Gly) c.761A>G (p.Glu254Gly) c.680A>G (p.Glu227Gly) c.776A>G (p.Glu259Gly) c.-305A>G (n.-305A>G) n.1274A>G c.413A>G (p.Glu138Gly) c.716A>G (p.Glu239Gly) c.428A>G (p.Glu143Gly) c.863A>G (p.Glu288Gly) | |
8 | g.71299094T>G | CA371467165 | EYA1 | c.779A>C (p.Glu260Ala) c.677A>C (p.Glu226Ala) c.764A>C (p.Glu255Ala) c.*58A>C (n.*58A>C) c.15A>C n.1242A>C c.*546A>C (n.*546A>C) c.866A>C (p.Glu289Ala) c.851A>C (p.Glu284Ala) c.848A>C (p.Glu283Ala) c.761A>C (p.Glu254Ala) c.680A>C (p.Glu227Ala) c.776A>C (p.Glu259Ala) c.-305A>C (n.-305A>C) n.1274A>C c.413A>C (p.Glu138Ala) c.716A>C (p.Glu239Ala) c.428A>C (p.Glu143Ala) c.863A>C (p.Glu288Ala) | |
8 | g.71299094T= | CA1792728326 | EYA1 | c.779A= (p.Glu260=) c.677A= (p.Glu226=) c.764A= (p.Glu255=) c.*58A= (n.*58A=) c.15A= n.1242A= c.*546A= (n.*546A=) c.866A= (p.Glu289=) c.851A= (p.Glu284=) c.848A= (p.Glu283=) c.761A= (p.Glu254=) c.680A= (p.Glu227=) c.776A= (p.Glu259=) c.-305A= (n.-305A=) n.1274A= c.413A= (p.Glu138=) c.716A= (p.Glu239=) c.428A= (p.Glu143=) c.863A= (p.Glu288=) | |
8 | g.71299095C>A | CA371467168 | EYA1 | c.778G>T (p.Glu260Ter) c.676G>T (p.Glu226Ter) c.763G>T (p.Glu255Ter) c.*57G>T (n.*57G>T) c.14G>T n.1241G>T c.*545G>T (n.*545G>T) c.865G>T (p.Glu289Ter) c.850G>T (p.Glu284Ter) c.847G>T (p.Glu283Ter) c.760G>T (p.Glu254Ter) c.679G>T (p.Glu227Ter) c.775G>T (p.Glu259Ter) c.-306G>T (n.-306G>T) n.1273G>T c.412G>T (p.Glu138Ter) c.715G>T (p.Glu239Ter) c.427G>T (p.Glu143Ter) c.862G>T (p.Glu288Ter) | |
8 | g.71299095C>G | CA371467166 | EYA1 | c.778G>C (p.Glu260Gln) c.676G>C (p.Glu226Gln) c.763G>C (p.Glu255Gln) c.*57G>C (n.*57G>C) c.14G>C n.1241G>C c.*545G>C (n.*545G>C) c.865G>C (p.Glu289Gln) c.850G>C (p.Glu284Gln) c.847G>C (p.Glu283Gln) c.760G>C (p.Glu254Gln) c.679G>C (p.Glu227Gln) c.775G>C (p.Glu259Gln) c.-306G>C (n.-306G>C) n.1273G>C c.412G>C (p.Glu138Gln) c.715G>C (p.Glu239Gln) c.427G>C (p.Glu143Gln) c.862G>C (p.Glu288Gln) | |
8 | g.71299095C>T | CA371467167 | EYA1 | c.778G>A (p.Glu260Lys) c.676G>A (p.Glu226Lys) c.763G>A (p.Glu255Lys) c.*57G>A (n.*57G>A) c.14G>A n.1241G>A c.*545G>A (n.*545G>A) c.865G>A (p.Glu289Lys) c.850G>A (p.Glu284Lys) c.847G>A (p.Glu283Lys) c.760G>A (p.Glu254Lys) c.679G>A (p.Glu227Lys) c.775G>A (p.Glu259Lys) c.-306G>A (n.-306G>A) n.1273G>A c.412G>A (p.Glu138Lys) c.715G>A (p.Glu239Lys) c.427G>A (p.Glu143Lys) c.862G>A (p.Glu288Lys) | |
8 | g.71299096T>A | CA371467169 | EYA1 | c.777A>T (p.Gln259His) c.675A>T (p.Gln225His) c.762A>T (p.Gln254His) c.*56A>T (n.*56A>T) c.13A>T n.1240A>T c.*544A>T (n.*544A>T) c.864A>T (p.Gln288His) c.849A>T (p.Gln283His) c.846A>T (p.Gln282His) c.759A>T (p.Gln253His) c.678A>T (p.Gln226His) c.774A>T (p.Gln258His) c.-307A>T (n.-307A>T) n.1272A>T c.411A>T (p.Gln137His) c.714A>T (p.Gln238His) c.426A>T (p.Gln142His) c.861A>T (p.Gln287His) | |
8 | g.71299096T>C | CA461327843 | EYA1 | c.777A>G (p.Gln259=) c.675A>G (p.Gln225=) c.762A>G (p.Gln254=) c.*56A>G (n.*56A>G) c.13A>G n.1240A>G c.*544A>G (n.*544A>G) c.864A>G (p.Gln288=) c.849A>G (p.Gln283=) c.846A>G (p.Gln282=) c.759A>G (p.Gln253=) c.678A>G (p.Gln226=) c.774A>G (p.Gln258=) c.-307A>G (n.-307A>G) n.1272A>G c.411A>G (p.Gln137=) c.714A>G (p.Gln238=) c.426A>G (p.Gln142=) c.861A>G (p.Gln287=) | gnomAD v4 |
8 | g.71299096T>G | CA371467170 | EYA1 | c.777A>C (p.Gln259His) c.675A>C (p.Gln225His) c.762A>C (p.Gln254His) c.*56A>C (n.*56A>C) c.13A>C n.1240A>C c.*544A>C (n.*544A>C) c.864A>C (p.Gln288His) c.849A>C (p.Gln283His) c.846A>C (p.Gln282His) c.759A>C (p.Gln253His) c.678A>C (p.Gln226His) c.774A>C (p.Gln258His) c.-307A>C (n.-307A>C) n.1272A>C c.411A>C (p.Gln137His) c.714A>C (p.Gln238His) c.426A>C (p.Gln142His) c.861A>C (p.Gln287His) | |
8 | g.71299097dup | CA2695209785 | EYA1 | c.777dup (p.Glu260ArgfsTer29) c.675dup (p.Glu226ArgfsTer29) c.762dup (p.Glu255ArgfsTer29) c.*56dup (n.*56dup) c.13dup n.1240dup c.*544dup (n.*544dup) c.864dup (p.Glu289ArgfsTer29) c.849dup (p.Glu284ArgfsTer29) c.846dup (p.Glu283ArgfsTer29) c.759dup (p.Glu254ArgfsTer29) c.678dup (p.Glu227ArgfsTer29) c.774dup (p.Glu259ArgfsTer29) c.-307dup (n.-307dup) n.1272dup c.411dup (p.Glu138ArgfsTer29) c.714dup (p.Glu239ArgfsTer29) c.426dup (p.Glu143ArgfsTer29) c.861dup (p.Glu288ArgfsTer29) | |
8 | g.71299097T>A | CA371467171 | EYA1 | c.776A>T (p.Gln259Leu) c.674A>T (p.Gln225Leu) c.761A>T (p.Gln254Leu) c.*55A>T (n.*55A>T) c.12A>T n.1239A>T c.*543A>T (n.*543A>T) c.863A>T (p.Gln288Leu) c.848A>T (p.Gln283Leu) c.845A>T (p.Gln282Leu) c.758A>T (p.Gln253Leu) c.677A>T (p.Gln226Leu) c.773A>T (p.Gln258Leu) c.-308A>T (n.-308A>T) n.1271A>T c.410A>T (p.Gln137Leu) c.713A>T (p.Gln238Leu) c.425A>T (p.Gln142Leu) c.860A>T (p.Gln287Leu) | |
8 | g.71299097T>C | CA371467172 | EYA1 | c.776A>G (p.Gln259Arg) c.674A>G (p.Gln225Arg) c.761A>G (p.Gln254Arg) c.*55A>G (n.*55A>G) c.12A>G n.1239A>G c.*543A>G (n.*543A>G) c.863A>G (p.Gln288Arg) c.848A>G (p.Gln283Arg) c.845A>G (p.Gln282Arg) c.758A>G (p.Gln253Arg) c.677A>G (p.Gln226Arg) c.773A>G (p.Gln258Arg) c.-308A>G (n.-308A>G) n.1271A>G c.410A>G (p.Gln137Arg) c.713A>G (p.Gln238Arg) c.425A>G (p.Gln142Arg) c.860A>G (p.Gln287Arg) | gnomAD v4 |
8 | g.71299097T>G | CA371467173 | EYA1 | c.776A>C (p.Gln259Pro) c.674A>C (p.Gln225Pro) c.761A>C (p.Gln254Pro) c.*55A>C (n.*55A>C) c.12A>C n.1239A>C c.*543A>C (n.*543A>C) c.863A>C (p.Gln288Pro) c.848A>C (p.Gln283Pro) c.845A>C (p.Gln282Pro) c.758A>C (p.Gln253Pro) c.677A>C (p.Gln226Pro) c.773A>C (p.Gln258Pro) c.-308A>C (n.-308A>C) n.1271A>C c.410A>C (p.Gln137Pro) c.713A>C (p.Gln238Pro) c.425A>C (p.Gln142Pro) c.860A>C (p.Gln287Pro) | |
8 | g.71299098G>A | CA371467174 | EYA1 | c.775C>T (p.Gln259Ter) c.673C>T (p.Gln225Ter) c.760C>T (p.Gln254Ter) c.*54C>T (n.*54C>T) c.11C>T n.1238C>T c.*542C>T (n.*542C>T) c.862C>T (p.Gln288Ter) c.847C>T (p.Gln283Ter) c.844C>T (p.Gln282Ter) c.757C>T (p.Gln253Ter) c.676C>T (p.Gln226Ter) c.772C>T (p.Gln258Ter) c.-309C>T (n.-309C>T) n.1270C>T c.409C>T (p.Gln137Ter) c.712C>T (p.Gln238Ter) c.424C>T (p.Gln142Ter) c.859C>T (p.Gln287Ter) | ClinVar dbSNP |
8 | g.71299098G>C | CA371467175 | EYA1 | c.775C>G (p.Gln259Glu) c.673C>G (p.Gln225Glu) c.760C>G (p.Gln254Glu) c.*54C>G (n.*54C>G) c.11C>G n.1238C>G c.*542C>G (n.*542C>G) c.862C>G (p.Gln288Glu) c.847C>G (p.Gln283Glu) c.844C>G (p.Gln282Glu) c.757C>G (p.Gln253Glu) c.676C>G (p.Gln226Glu) c.772C>G (p.Gln258Glu) c.-309C>G (n.-309C>G) n.1270C>G c.409C>G (p.Gln137Glu) c.712C>G (p.Gln238Glu) c.424C>G (p.Gln142Glu) c.859C>G (p.Gln287Glu) | COSMIC COSMIC |
8 | g.71299098G>T | CA371467176 | EYA1 | c.775C>A (p.Gln259Lys) c.673C>A (p.Gln225Lys) c.760C>A (p.Gln254Lys) c.*54C>A (n.*54C>A) c.11C>A n.1238C>A c.*542C>A (n.*542C>A) c.862C>A (p.Gln288Lys) c.847C>A (p.Gln283Lys) c.844C>A (p.Gln282Lys) c.757C>A (p.Gln253Lys) c.676C>A (p.Gln226Lys) c.772C>A (p.Gln258Lys) c.-309C>A (n.-309C>A) n.1270C>A c.409C>A (p.Gln137Lys) c.712C>A (p.Gln238Lys) c.424C>A (p.Gln142Lys) c.859C>A (p.Gln287Lys) | |
8 | g.71299099A>C | CA461327844 | EYA1 | c.774T>G (p.Leu258=) c.672T>G (p.Leu224=) c.759T>G (p.Leu253=) c.*53T>G (n.*53T>G) c.10T>G n.1237T>G c.*541T>G (n.*541T>G) c.861T>G (p.Leu287=) c.846T>G (p.Leu282=) c.843T>G (p.Leu281=) c.756T>G (p.Leu252=) c.675T>G (p.Leu225=) c.771T>G (p.Leu257=) c.-310T>G (n.-310T>G) n.1269T>G c.408T>G (p.Leu136=) c.711T>G (p.Leu237=) c.423T>G (p.Leu141=) c.858T>G (p.Leu286=) | |
8 | g.71299099A>G | CA461327845 | EYA1 | c.774T>C (p.Leu258=) c.672T>C (p.Leu224=) c.759T>C (p.Leu253=) c.*53T>C (n.*53T>C) c.10T>C n.1237T>C c.*541T>C (n.*541T>C) c.861T>C (p.Leu287=) c.846T>C (p.Leu282=) c.843T>C (p.Leu281=) c.756T>C (p.Leu252=) c.675T>C (p.Leu225=) c.771T>C (p.Leu257=) c.-310T>C (n.-310T>C) n.1269T>C c.408T>C (p.Leu136=) c.711T>C (p.Leu237=) c.423T>C (p.Leu141=) c.858T>C (p.Leu286=) | |
8 | g.71299099A>T | CA461327846 | EYA1 | c.774T>A (p.Leu258=) c.672T>A (p.Leu224=) c.759T>A (p.Leu253=) c.*53T>A (n.*53T>A) c.10T>A n.1237T>A c.*541T>A (n.*541T>A) c.861T>A (p.Leu287=) c.846T>A (p.Leu282=) c.843T>A (p.Leu281=) c.756T>A (p.Leu252=) c.675T>A (p.Leu225=) c.771T>A (p.Leu257=) c.-310T>A (n.-310T>A) n.1269T>A c.408T>A (p.Leu136=) c.711T>A (p.Leu237=) c.423T>A (p.Leu141=) c.858T>A (p.Leu286=) | |
8 | g.71299100A>C | CA371467177 | EYA1 | c.773T>G (p.Leu258Arg) c.671T>G (p.Leu224Arg) c.758T>G (p.Leu253Arg) c.*52T>G (n.*52T>G) c.9T>G n.1236T>G c.*540T>G (n.*540T>G) c.860T>G (p.Leu287Arg) c.845T>G (p.Leu282Arg) c.842T>G (p.Leu281Arg) c.755T>G (p.Leu252Arg) c.674T>G (p.Leu225Arg) c.770T>G (p.Leu257Arg) c.-311T>G (n.-311T>G) n.1268T>G c.407T>G (p.Leu136Arg) c.710T>G (p.Leu237Arg) c.422T>G (p.Leu141Arg) c.857T>G (p.Leu286Arg) | |
8 | g.71299100A>G | CA371467178 | EYA1 | c.773T>C (p.Leu258Pro) c.671T>C (p.Leu224Pro) c.758T>C (p.Leu253Pro) c.*52T>C (n.*52T>C) c.9T>C n.1236T>C c.*540T>C (n.*540T>C) c.860T>C (p.Leu287Pro) c.845T>C (p.Leu282Pro) c.842T>C (p.Leu281Pro) c.755T>C (p.Leu252Pro) c.674T>C (p.Leu225Pro) c.770T>C (p.Leu257Pro) c.-311T>C (n.-311T>C) n.1268T>C c.407T>C (p.Leu136Pro) c.710T>C (p.Leu237Pro) c.422T>C (p.Leu141Pro) c.857T>C (p.Leu286Pro) | |
8 | g.71299100A>T | CA371467179 | EYA1 | c.773T>A (p.Leu258His) c.671T>A (p.Leu224His) c.758T>A (p.Leu253His) c.*52T>A (n.*52T>A) c.9T>A n.1236T>A c.*540T>A (n.*540T>A) c.860T>A (p.Leu287His) c.845T>A (p.Leu282His) c.842T>A (p.Leu281His) c.755T>A (p.Leu252His) c.674T>A (p.Leu225His) c.770T>A (p.Leu257His) c.-311T>A (n.-311T>A) n.1268T>A c.407T>A (p.Leu136His) c.710T>A (p.Leu237His) c.422T>A (p.Leu141His) c.857T>A (p.Leu286His) | |
8 | g.71299101G>A | CA371467181 | EYA1 | c.772C>T (p.Leu258Phe) c.670C>T (p.Leu224Phe) c.757C>T (p.Leu253Phe) c.*51C>T (n.*51C>T) c.8C>T n.1235C>T c.*539C>T (n.*539C>T) c.859C>T (p.Leu287Phe) c.844C>T (p.Leu282Phe) c.841C>T (p.Leu281Phe) c.754C>T (p.Leu252Phe) c.673C>T (p.Leu225Phe) c.769C>T (p.Leu257Phe) c.-312C>T (n.-312C>T) n.1267C>T c.406C>T (p.Leu136Phe) c.709C>T (p.Leu237Phe) c.421C>T (p.Leu141Phe) c.856C>T (p.Leu286Phe) | |
8 | g.71299101G>C | CA371467182 | EYA1 | c.772C>G (p.Leu258Val) c.670C>G (p.Leu224Val) c.757C>G (p.Leu253Val) c.*51C>G (n.*51C>G) c.8C>G n.1235C>G c.*539C>G (n.*539C>G) c.859C>G (p.Leu287Val) c.844C>G (p.Leu282Val) c.841C>G (p.Leu281Val) c.754C>G (p.Leu252Val) c.673C>G (p.Leu225Val) c.769C>G (p.Leu257Val) c.-312C>G (n.-312C>G) n.1267C>G c.406C>G (p.Leu136Val) c.709C>G (p.Leu237Val) c.421C>G (p.Leu141Val) c.856C>G (p.Leu286Val) | |
8 | g.71299101G>T | CA371467180 | EYA1 | c.772C>A (p.Leu258Ile) c.670C>A (p.Leu224Ile) c.757C>A (p.Leu253Ile) c.*51C>A (n.*51C>A) c.8C>A n.1235C>A c.*539C>A (n.*539C>A) c.859C>A (p.Leu287Ile) c.844C>A (p.Leu282Ile) c.841C>A (p.Leu281Ile) c.754C>A (p.Leu252Ile) c.673C>A (p.Leu225Ile) c.769C>A (p.Leu257Ile) c.-312C>A (n.-312C>A) n.1267C>A c.406C>A (p.Leu136Ile) c.709C>A (p.Leu237Ile) c.421C>A (p.Leu141Ile) c.856C>A (p.Leu286Ile) | |
8 | g.71299102C>A | CA371467183 | EYA1 | c.771G>T (p.Gln257His) c.669G>T (p.Gln223His) c.756G>T (p.Gln252His) c.*50G>T (n.*50G>T) c.7G>T n.1234G>T c.*538G>T (n.*538G>T) c.858G>T (p.Gln286His) c.843G>T (p.Gln281His) c.840G>T (p.Gln280His) c.753G>T (p.Gln251His) c.672G>T (p.Gln224His) c.768G>T (p.Gln256His) c.-313G>T (n.-313G>T) n.1266G>T c.405G>T (p.Gln135His) c.708G>T (p.Gln236His) c.420G>T (p.Gln140His) c.855G>T (p.Gln285His) | |
8 | g.71299102C= | CA1792728327 | EYA1 | c.771G= (p.Gln257=) c.669G= (p.Gln223=) c.756G= (p.Gln252=) c.*50G= (n.*50G=) c.7G= n.1234G= c.*538G= (n.*538G=) c.858G= (p.Gln286=) c.843G= (p.Gln281=) c.840G= (p.Gln280=) c.753G= (p.Gln251=) c.672G= (p.Gln224=) c.768G= (p.Gln256=) c.-313G= (n.-313G=) n.1266G= c.405G= (p.Gln135=) c.708G= (p.Gln236=) c.420G= (p.Gln140=) c.855G= (p.Gln285=) | |
8 | g.71299102C>G | CA4779672 | EYA1 | c.771G>C (p.Gln257His) c.669G>C (p.Gln223His) c.756G>C (p.Gln252His) c.*50G>C (n.*50G>C) c.7G>C n.1234G>C c.*538G>C (n.*538G>C) c.858G>C (p.Gln286His) c.843G>C (p.Gln281His) c.840G>C (p.Gln280His) c.753G>C (p.Gln251His) c.672G>C (p.Gln224His) c.768G>C (p.Gln256His) c.-313G>C (n.-313G>C) n.1266G>C c.405G>C (p.Gln135His) c.708G>C (p.Gln236His) c.420G>C (p.Gln140His) c.855G>C (p.Gln285His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299102C>T | CA461327847 | EYA1 | c.771G>A (p.Gln257=) c.669G>A (p.Gln223=) c.756G>A (p.Gln252=) c.*50G>A (n.*50G>A) c.7G>A n.1234G>A c.*538G>A (n.*538G>A) c.858G>A (p.Gln286=) c.843G>A (p.Gln281=) c.840G>A (p.Gln280=) c.753G>A (p.Gln251=) c.672G>A (p.Gln224=) c.768G>A (p.Gln256=) c.-313G>A (n.-313G>A) n.1266G>A c.405G>A (p.Gln135=) c.708G>A (p.Gln236=) c.420G>A (p.Gln140=) c.855G>A (p.Gln285=) | |
8 | g.71299103T>A | CA371467184 | EYA1 | c.770A>T (p.Gln257Leu) c.668A>T (p.Gln223Leu) c.755A>T (p.Gln252Leu) c.*49A>T (n.*49A>T) c.6A>T n.1233A>T c.*537A>T (n.*537A>T) c.857A>T (p.Gln286Leu) c.842A>T (p.Gln281Leu) c.839A>T (p.Gln280Leu) c.752A>T (p.Gln251Leu) c.671A>T (p.Gln224Leu) c.767A>T (p.Gln256Leu) c.-314A>T (n.-314A>T) n.1265A>T c.404A>T (p.Gln135Leu) c.707A>T (p.Gln236Leu) c.419A>T (p.Gln140Leu) c.854A>T (p.Gln285Leu) | |
8 | g.71299103T>C | CA371467185 | EYA1 | c.770A>G (p.Gln257Arg) c.668A>G (p.Gln223Arg) c.755A>G (p.Gln252Arg) c.*49A>G (n.*49A>G) c.6A>G n.1233A>G c.*537A>G (n.*537A>G) c.857A>G (p.Gln286Arg) c.842A>G (p.Gln281Arg) c.839A>G (p.Gln280Arg) c.752A>G (p.Gln251Arg) c.671A>G (p.Gln224Arg) c.767A>G (p.Gln256Arg) c.-314A>G (n.-314A>G) n.1265A>G c.404A>G (p.Gln135Arg) c.707A>G (p.Gln236Arg) c.419A>G (p.Gln140Arg) c.854A>G (p.Gln285Arg) | |
8 | g.71299103T>G | CA371467186 | EYA1 | c.770A>C (p.Gln257Pro) c.668A>C (p.Gln223Pro) c.755A>C (p.Gln252Pro) c.*49A>C (n.*49A>C) c.6A>C n.1233A>C c.*537A>C (n.*537A>C) c.857A>C (p.Gln286Pro) c.842A>C (p.Gln281Pro) c.839A>C (p.Gln280Pro) c.752A>C (p.Gln251Pro) c.671A>C (p.Gln224Pro) c.767A>C (p.Gln256Pro) c.-314A>C (n.-314A>C) n.1265A>C c.404A>C (p.Gln135Pro) c.707A>C (p.Gln236Pro) c.419A>C (p.Gln140Pro) c.854A>C (p.Gln285Pro) | |
8 | g.71299104G>A | CA371467189 | EYA1 | c.769C>T (p.Gln257Ter) c.667C>T (p.Gln223Ter) c.754C>T (p.Gln252Ter) c.*48C>T (n.*48C>T) c.5C>T n.1232C>T c.*536C>T (n.*536C>T) c.856C>T (p.Gln286Ter) c.841C>T (p.Gln281Ter) c.838C>T (p.Gln280Ter) c.751C>T (p.Gln251Ter) c.670C>T (p.Gln224Ter) c.766C>T (p.Gln256Ter) c.-315C>T (n.-315C>T) n.1264C>T c.403C>T (p.Gln135Ter) c.706C>T (p.Gln236Ter) c.418C>T (p.Gln140Ter) c.853C>T (p.Gln285Ter) | |
8 | g.71299104G>C | CA371467188 | EYA1 | c.769C>G (p.Gln257Glu) c.667C>G (p.Gln223Glu) c.754C>G (p.Gln252Glu) c.*48C>G (n.*48C>G) c.5C>G n.1232C>G c.*536C>G (n.*536C>G) c.856C>G (p.Gln286Glu) c.841C>G (p.Gln281Glu) c.838C>G (p.Gln280Glu) c.751C>G (p.Gln251Glu) c.670C>G (p.Gln224Glu) c.766C>G (p.Gln256Glu) c.-315C>G (n.-315C>G) n.1264C>G c.403C>G (p.Gln135Glu) c.706C>G (p.Gln236Glu) c.418C>G (p.Gln140Glu) c.853C>G (p.Gln285Glu) | dbSNP |
8 | g.71299104G>T | CA371467187 | EYA1 | c.769C>A (p.Gln257Lys) c.667C>A (p.Gln223Lys) c.754C>A (p.Gln252Lys) c.*48C>A (n.*48C>A) c.5C>A n.1232C>A c.*536C>A (n.*536C>A) c.856C>A (p.Gln286Lys) c.841C>A (p.Gln281Lys) c.838C>A (p.Gln280Lys) c.751C>A (p.Gln251Lys) c.670C>A (p.Gln224Lys) c.766C>A (p.Gln256Lys) c.-315C>A (n.-315C>A) n.1264C>A c.403C>A (p.Gln135Lys) c.706C>A (p.Gln236Lys) c.418C>A (p.Gln140Lys) c.853C>A (p.Gln285Lys) | |
8 | g.71299105del | CA2695209786 | EYA1 | c.769del (p.Gln257SerfsTer?) c.667del (p.Gln223SerfsTer?) c.754del (p.Gln252SerfsTer?) c.*48del (n.*48del) c.5del n.1232del c.*536del (n.*536del) c.856del (p.Gln286SerfsTer?) c.841del (p.Gln281SerfsTer?) c.838del (p.Gln280SerfsTer?) c.751del (p.Gln251SerfsTer?) c.670del (p.Gln224SerfsTer?) c.766del (p.Gln256SerfsTer?) c.-315del (n.-315del) n.1264del c.403del (p.Gln135SerfsTer?) c.706del (p.Gln236SerfsTer?) c.418del (p.Gln140SerfsTer?) c.853del (p.Gln285SerfsTer?) | |
8 | g.71299105G>A | CA4779673 | EYA1 | c.768C>T (p.Tyr256=) c.666C>T (p.Tyr222=) c.753C>T (p.Tyr251=) c.*47C>T (n.*47C>T) c.4C>T n.1231C>T c.*535C>T (n.*535C>T) c.855C>T (p.Tyr285=) c.840C>T (p.Tyr280=) c.837C>T (p.Tyr279=) c.750C>T (p.Tyr250=) c.669C>T (p.Tyr223=) c.765C>T (p.Tyr255=) c.-316C>T (n.-316C>T) n.1263C>T c.402C>T (p.Tyr134=) c.705C>T (p.Tyr235=) c.417C>T (p.Tyr139=) c.852C>T (p.Tyr284=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299105G>C | CA371467190 | EYA1 | c.768C>G (p.Tyr256Ter) c.666C>G (p.Tyr222Ter) c.753C>G (p.Tyr251Ter) c.*47C>G (n.*47C>G) c.4C>G n.1231C>G c.*535C>G (n.*535C>G) c.855C>G (p.Tyr285Ter) c.840C>G (p.Tyr280Ter) c.837C>G (p.Tyr279Ter) c.750C>G (p.Tyr250Ter) c.669C>G (p.Tyr223Ter) c.765C>G (p.Tyr255Ter) c.-316C>G (n.-316C>G) n.1263C>G c.402C>G (p.Tyr134Ter) c.705C>G (p.Tyr235Ter) c.417C>G (p.Tyr139Ter) c.852C>G (p.Tyr284Ter) | |
8 | g.71299105G= | CA1792728328 | EYA1 | c.768C= (p.Tyr256=) c.666C= (p.Tyr222=) c.753C= (p.Tyr251=) c.*47C= (n.*47C=) c.4C= n.1231C= c.*535C= (n.*535C=) c.855C= (p.Tyr285=) c.840C= (p.Tyr280=) c.837C= (p.Tyr279=) c.750C= (p.Tyr250=) c.669C= (p.Tyr223=) c.765C= (p.Tyr255=) c.-316C= (n.-316C=) n.1263C= c.402C= (p.Tyr134=) c.705C= (p.Tyr235=) c.417C= (p.Tyr139=) c.852C= (p.Tyr284=) | |
8 | g.71299105G>T | CA371467191 | EYA1 | c.768C>A (p.Tyr256Ter) c.666C>A (p.Tyr222Ter) c.753C>A (p.Tyr251Ter) c.*47C>A (n.*47C>A) c.4C>A n.1231C>A c.*535C>A (n.*535C>A) c.855C>A (p.Tyr285Ter) c.840C>A (p.Tyr280Ter) c.837C>A (p.Tyr279Ter) c.750C>A (p.Tyr250Ter) c.669C>A (p.Tyr223Ter) c.765C>A (p.Tyr255Ter) c.-316C>A (n.-316C>A) n.1263C>A c.402C>A (p.Tyr134Ter) c.705C>A (p.Tyr235Ter) c.417C>A (p.Tyr139Ter) c.852C>A (p.Tyr284Ter) | |
8 | g.71299106T>A | CA371467192 | EYA1 | c.767A>T (p.Tyr256Phe) c.665A>T (p.Tyr222Phe) c.752A>T (p.Tyr251Phe) c.*46A>T (n.*46A>T) c.3A>T n.1230A>T c.*534A>T (n.*534A>T) c.854A>T (p.Tyr285Phe) c.839A>T (p.Tyr280Phe) c.836A>T (p.Tyr279Phe) c.749A>T (p.Tyr250Phe) c.668A>T (p.Tyr223Phe) c.764A>T (p.Tyr255Phe) c.-317A>T (n.-317A>T) n.1262A>T c.401A>T (p.Tyr134Phe) c.704A>T (p.Tyr235Phe) c.416A>T (p.Tyr139Phe) c.851A>T (p.Tyr284Phe) | |
8 | g.71299106T>C | CA371467193 | EYA1 | c.767A>G (p.Tyr256Cys) c.665A>G (p.Tyr222Cys) c.752A>G (p.Tyr251Cys) c.*46A>G (n.*46A>G) c.3A>G n.1230A>G c.*534A>G (n.*534A>G) c.854A>G (p.Tyr285Cys) c.839A>G (p.Tyr280Cys) c.836A>G (p.Tyr279Cys) c.749A>G (p.Tyr250Cys) c.668A>G (p.Tyr223Cys) c.764A>G (p.Tyr255Cys) c.-317A>G (n.-317A>G) n.1262A>G c.401A>G (p.Tyr134Cys) c.704A>G (p.Tyr235Cys) c.416A>G (p.Tyr139Cys) c.851A>G (p.Tyr284Cys) | gnomAD v4 |
8 | g.71299106T>G | CA371467194 | EYA1 | c.767A>C (p.Tyr256Ser) c.665A>C (p.Tyr222Ser) c.752A>C (p.Tyr251Ser) c.*46A>C (n.*46A>C) c.3A>C n.1230A>C c.*534A>C (n.*534A>C) c.854A>C (p.Tyr285Ser) c.839A>C (p.Tyr280Ser) c.836A>C (p.Tyr279Ser) c.749A>C (p.Tyr250Ser) c.668A>C (p.Tyr223Ser) c.764A>C (p.Tyr255Ser) c.-317A>C (n.-317A>C) n.1262A>C c.401A>C (p.Tyr134Ser) c.704A>C (p.Tyr235Ser) c.416A>C (p.Tyr139Ser) c.851A>C (p.Tyr284Ser) | |
8 | g.71299107A>C | CA371467195 | EYA1 | c.766T>G (p.Tyr256Asp) c.664T>G (p.Tyr222Asp) c.751T>G (p.Tyr251Asp) c.*45T>G (n.*45T>G) c.2T>G n.1229T>G c.*533T>G (n.*533T>G) c.853T>G (p.Tyr285Asp) c.838T>G (p.Tyr280Asp) c.835T>G (p.Tyr279Asp) c.748T>G (p.Tyr250Asp) c.667T>G (p.Tyr223Asp) c.763T>G (p.Tyr255Asp) c.-318T>G (n.-318T>G) n.1261T>G c.400T>G (p.Tyr134Asp) c.703T>G (p.Tyr235Asp) c.415T>G (p.Tyr139Asp) c.850T>G (p.Tyr284Asp) | |
8 | g.71299107A>G | CA371467197 | EYA1 | c.766T>C (p.Tyr256His) c.664T>C (p.Tyr222His) c.751T>C (p.Tyr251His) c.*45T>C (n.*45T>C) c.2T>C n.1229T>C c.*533T>C (n.*533T>C) c.853T>C (p.Tyr285His) c.838T>C (p.Tyr280His) c.835T>C (p.Tyr279His) c.748T>C (p.Tyr250His) c.667T>C (p.Tyr223His) c.763T>C (p.Tyr255His) c.-318T>C (n.-318T>C) n.1261T>C c.400T>C (p.Tyr134His) c.703T>C (p.Tyr235His) c.415T>C (p.Tyr139His) c.850T>C (p.Tyr284His) | |
8 | g.71299107A>T | CA371467196 | EYA1 | c.766T>A (p.Tyr256Asn) c.664T>A (p.Tyr222Asn) c.751T>A (p.Tyr251Asn) c.*45T>A (n.*45T>A) c.2T>A n.1229T>A c.*533T>A (n.*533T>A) c.853T>A (p.Tyr285Asn) c.838T>A (p.Tyr280Asn) c.835T>A (p.Tyr279Asn) c.748T>A (p.Tyr250Asn) c.667T>A (p.Tyr223Asn) c.763T>A (p.Tyr255Asn) c.-318T>A (n.-318T>A) n.1261T>A c.400T>A (p.Tyr134Asn) c.703T>A (p.Tyr235Asn) c.415T>A (p.Tyr139Asn) c.850T>A (p.Tyr284Asn) | |
8 | g.71299108A>C | CA461327848 | EYA1 | c.765T>G (p.Thr255=) c.663T>G (p.Thr221=) c.750T>G (p.Thr250=) c.*44T>G (n.*44T>G) c.1T>G n.1228T>G c.*532T>G (n.*532T>G) c.852T>G (p.Thr284=) c.837T>G (p.Thr279=) c.834T>G (p.Thr278=) c.747T>G (p.Thr249=) c.666T>G (p.Thr222=) c.762T>G (p.Thr254=) c.-319T>G (n.-319T>G) n.1260T>G c.399T>G (p.Thr133=) c.702T>G (p.Thr234=) c.414T>G (p.Thr138=) c.849T>G (p.Thr283=) | |
8 | g.71299108A>G | CA461327849 | EYA1 | c.765T>C (p.Thr255=) c.663T>C (p.Thr221=) c.750T>C (p.Thr250=) c.*44T>C (n.*44T>C) c.1T>C n.1228T>C c.*532T>C (n.*532T>C) c.852T>C (p.Thr284=) c.837T>C (p.Thr279=) c.834T>C (p.Thr278=) c.747T>C (p.Thr249=) c.666T>C (p.Thr222=) c.762T>C (p.Thr254=) c.-319T>C (n.-319T>C) n.1260T>C c.399T>C (p.Thr133=) c.702T>C (p.Thr234=) c.414T>C (p.Thr138=) c.849T>C (p.Thr283=) | |
8 | g.71299108A>T | CA461327850 | EYA1 | c.765T>A (p.Thr255=) c.663T>A (p.Thr221=) c.750T>A (p.Thr250=) c.*44T>A (n.*44T>A) c.1T>A n.1228T>A c.*532T>A (n.*532T>A) c.852T>A (p.Thr284=) c.837T>A (p.Thr279=) c.834T>A (p.Thr278=) c.747T>A (p.Thr249=) c.666T>A (p.Thr222=) c.762T>A (p.Thr254=) c.-319T>A (n.-319T>A) n.1260T>A c.399T>A (p.Thr133=) c.702T>A (p.Thr234=) c.414T>A (p.Thr138=) c.849T>A (p.Thr283=) | |
8 | g.71299109G>A | CA371467198 | EYA1 | c.764C>T (p.Thr255Ile) c.662C>T (p.Thr221Ile) c.749C>T (p.Thr250Ile) c.*43C>T (n.*43C>T) n.1227C>T c.*531C>T (n.*531C>T) c.851C>T (p.Thr284Ile) c.836C>T (p.Thr279Ile) c.833C>T (p.Thr278Ile) c.746C>T (p.Thr249Ile) c.665C>T (p.Thr222Ile) c.761C>T (p.Thr254Ile) n.1259C>T c.398C>T (p.Thr133Ile) c.701C>T (p.Thr234Ile) c.413C>T (p.Thr138Ile) c.848C>T (p.Thr283Ile) | |
8 | g.71299109G>C | CA371467199 | EYA1 | c.764C>G (p.Thr255Ser) c.662C>G (p.Thr221Ser) c.749C>G (p.Thr250Ser) c.*43C>G (n.*43C>G) n.1227C>G c.*531C>G (n.*531C>G) c.851C>G (p.Thr284Ser) c.836C>G (p.Thr279Ser) c.833C>G (p.Thr278Ser) c.746C>G (p.Thr249Ser) c.665C>G (p.Thr222Ser) c.761C>G (p.Thr254Ser) n.1259C>G c.398C>G (p.Thr133Ser) c.701C>G (p.Thr234Ser) c.413C>G (p.Thr138Ser) c.848C>G (p.Thr283Ser) | |
8 | g.71299109G>T | CA371467200 | EYA1 | c.764C>A (p.Thr255Asn) c.662C>A (p.Thr221Asn) c.749C>A (p.Thr250Asn) c.*43C>A (n.*43C>A) n.1227C>A c.*531C>A (n.*531C>A) c.851C>A (p.Thr284Asn) c.836C>A (p.Thr279Asn) c.833C>A (p.Thr278Asn) c.746C>A (p.Thr249Asn) c.665C>A (p.Thr222Asn) c.761C>A (p.Thr254Asn) n.1259C>A c.398C>A (p.Thr133Asn) c.701C>A (p.Thr234Asn) c.413C>A (p.Thr138Asn) c.848C>A (p.Thr283Asn) | gnomAD v4 |
8 | g.71299110T>A | CA371467201 | EYA1 | c.763A>T (p.Thr255Ser) c.661A>T (p.Thr221Ser) c.748A>T (p.Thr250Ser) c.*42A>T (n.*42A>T) n.1226A>T c.*530A>T (n.*530A>T) c.850A>T (p.Thr284Ser) c.835A>T (p.Thr279Ser) c.832A>T (p.Thr278Ser) c.745A>T (p.Thr249Ser) c.664A>T (p.Thr222Ser) c.760A>T (p.Thr254Ser) n.1258A>T c.397A>T (p.Thr133Ser) c.700A>T (p.Thr234Ser) c.412A>T (p.Thr138Ser) c.847A>T (p.Thr283Ser) | |
8 | g.71299110T>C | CA371467202 | EYA1 | c.763A>G (p.Thr255Ala) c.661A>G (p.Thr221Ala) c.748A>G (p.Thr250Ala) c.*42A>G (n.*42A>G) n.1226A>G c.*530A>G (n.*530A>G) c.850A>G (p.Thr284Ala) c.835A>G (p.Thr279Ala) c.832A>G (p.Thr278Ala) c.745A>G (p.Thr249Ala) c.664A>G (p.Thr222Ala) c.760A>G (p.Thr254Ala) n.1258A>G c.397A>G (p.Thr133Ala) c.700A>G (p.Thr234Ala) c.412A>G (p.Thr138Ala) c.847A>G (p.Thr283Ala) | gnomAD v4 |
8 | g.71299110T>G | CA371467203 | EYA1 | c.763A>C (p.Thr255Pro) c.661A>C (p.Thr221Pro) c.748A>C (p.Thr250Pro) c.*42A>C (n.*42A>C) n.1226A>C c.*530A>C (n.*530A>C) c.850A>C (p.Thr284Pro) c.835A>C (p.Thr279Pro) c.832A>C (p.Thr278Pro) c.745A>C (p.Thr249Pro) c.664A>C (p.Thr222Pro) c.760A>C (p.Thr254Pro) n.1258A>C c.397A>C (p.Thr133Pro) c.700A>C (p.Thr234Pro) c.412A>C (p.Thr138Pro) c.847A>C (p.Thr283Pro) | |
8 | g.71299111G>A | CA461327852 | EYA1 | c.762C>T (p.Ala254=) c.660C>T (p.Ala220=) c.747C>T (p.Ala249=) c.*41C>T (n.*41C>T) n.1225C>T c.*529C>T (n.*529C>T) c.849C>T (p.Ala283=) c.834C>T (p.Ala278=) c.831C>T (p.Ala277=) c.744C>T (p.Ala248=) c.663C>T (p.Ala221=) c.759C>T (p.Ala253=) n.1257C>T c.396C>T (p.Ala132=) c.699C>T (p.Ala233=) c.411C>T (p.Ala137=) c.846C>T (p.Ala282=) | |
8 | g.71299111G>C | CA461327853 | EYA1 | c.762C>G (p.Ala254=) c.660C>G (p.Ala220=) c.747C>G (p.Ala249=) c.*41C>G (n.*41C>G) n.1225C>G c.*529C>G (n.*529C>G) c.849C>G (p.Ala283=) c.834C>G (p.Ala278=) c.831C>G (p.Ala277=) c.744C>G (p.Ala248=) c.663C>G (p.Ala221=) c.759C>G (p.Ala253=) n.1257C>G c.396C>G (p.Ala132=) c.699C>G (p.Ala233=) c.411C>G (p.Ala137=) c.846C>G (p.Ala282=) | |
8 | g.71299111G>T | CA461327851 | EYA1 | c.762C>A (p.Ala254=) c.660C>A (p.Ala220=) c.747C>A (p.Ala249=) c.*41C>A (n.*41C>A) n.1225C>A c.*529C>A (n.*529C>A) c.849C>A (p.Ala283=) c.834C>A (p.Ala278=) c.831C>A (p.Ala277=) c.744C>A (p.Ala248=) c.663C>A (p.Ala221=) c.759C>A (p.Ala253=) n.1257C>A c.396C>A (p.Ala132=) c.699C>A (p.Ala233=) c.411C>A (p.Ala137=) c.846C>A (p.Ala282=) | |
8 | g.71299112G>A | CA371467204 | EYA1 | c.761C>T (p.Ala254Val) c.659C>T (p.Ala220Val) c.746C>T (p.Ala249Val) c.*40C>T (n.*40C>T) n.1224C>T c.*528C>T (n.*528C>T) c.848C>T (p.Ala283Val) c.833C>T (p.Ala278Val) c.830C>T (p.Ala277Val) c.743C>T (p.Ala248Val) c.662C>T (p.Ala221Val) c.758C>T (p.Ala253Val) n.1256C>T c.395C>T (p.Ala132Val) c.698C>T (p.Ala233Val) c.410C>T (p.Ala137Val) c.845C>T (p.Ala282Val) | |
8 | g.71299112G>C | CA371467205 | EYA1 | c.761C>G (p.Ala254Gly) c.659C>G (p.Ala220Gly) c.746C>G (p.Ala249Gly) c.*40C>G (n.*40C>G) n.1224C>G c.*528C>G (n.*528C>G) c.848C>G (p.Ala283Gly) c.833C>G (p.Ala278Gly) c.830C>G (p.Ala277Gly) c.743C>G (p.Ala248Gly) c.662C>G (p.Ala221Gly) c.758C>G (p.Ala253Gly) n.1256C>G c.395C>G (p.Ala132Gly) c.698C>G (p.Ala233Gly) c.410C>G (p.Ala137Gly) c.845C>G (p.Ala282Gly) | |
8 | g.71299112G= | CA1792728329 | EYA1 | c.761C= (p.Ala254=) c.659C= (p.Ala220=) c.746C= (p.Ala249=) c.*40C= (n.*40C=) n.1224C= c.*528C= (n.*528C=) c.848C= (p.Ala283=) c.833C= (p.Ala278=) c.830C= (p.Ala277=) c.743C= (p.Ala248=) c.662C= (p.Ala221=) c.758C= (p.Ala253=) n.1256C= c.395C= (p.Ala132=) c.698C= (p.Ala233=) c.410C= (p.Ala137=) c.845C= (p.Ala282=) | |
8 | g.71299112G>T | CA371467206 | EYA1 | c.761C>A (p.Ala254Asp) c.659C>A (p.Ala220Asp) c.746C>A (p.Ala249Asp) c.*40C>A (n.*40C>A) n.1224C>A c.*528C>A (n.*528C>A) c.848C>A (p.Ala283Asp) c.833C>A (p.Ala278Asp) c.830C>A (p.Ala277Asp) c.743C>A (p.Ala248Asp) c.662C>A (p.Ala221Asp) c.758C>A (p.Ala253Asp) n.1256C>A c.395C>A (p.Ala132Asp) c.698C>A (p.Ala233Asp) c.410C>A (p.Ala137Asp) c.845C>A (p.Ala282Asp) | dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.71299113C>A | CA371467207 | EYA1 | c.760G>T (p.Ala254Ser) c.658G>T (p.Ala220Ser) c.745G>T (p.Ala249Ser) c.*39G>T (n.*39G>T) n.1223G>T c.*527G>T (n.*527G>T) c.847G>T (p.Ala283Ser) c.832G>T (p.Ala278Ser) c.829G>T (p.Ala277Ser) c.742G>T (p.Ala248Ser) c.661G>T (p.Ala221Ser) c.757G>T (p.Ala253Ser) n.1255G>T c.394G>T (p.Ala132Ser) c.697G>T (p.Ala233Ser) c.409G>T (p.Ala137Ser) c.844G>T (p.Ala282Ser) | |
8 | g.71299113C>G | CA371467208 | EYA1 | c.760G>C (p.Ala254Pro) c.658G>C (p.Ala220Pro) c.745G>C (p.Ala249Pro) c.*39G>C (n.*39G>C) n.1223G>C c.*527G>C (n.*527G>C) c.847G>C (p.Ala283Pro) c.832G>C (p.Ala278Pro) c.829G>C (p.Ala277Pro) c.742G>C (p.Ala248Pro) c.661G>C (p.Ala221Pro) c.757G>C (p.Ala253Pro) n.1255G>C c.394G>C (p.Ala132Pro) c.697G>C (p.Ala233Pro) c.409G>C (p.Ala137Pro) c.844G>C (p.Ala282Pro) | |
8 | g.71299113C>T | CA371467209 | EYA1 | c.760G>A (p.Ala254Thr) c.658G>A (p.Ala220Thr) c.745G>A (p.Ala249Thr) c.*39G>A (n.*39G>A) n.1223G>A c.*527G>A (n.*527G>A) c.847G>A (p.Ala283Thr) c.832G>A (p.Ala278Thr) c.829G>A (p.Ala277Thr) c.742G>A (p.Ala248Thr) c.661G>A (p.Ala221Thr) c.757G>A (p.Ala253Thr) n.1255G>A c.394G>A (p.Ala132Thr) c.697G>A (p.Ala233Thr) c.409G>A (p.Ala137Thr) c.844G>A (p.Ala282Thr) | |
8 | g.71299114A= | CA1792728330 | EYA1 | c.759T= (p.Asn253=) c.657T= (p.Asn219=) c.744T= (p.Asn248=) c.*38T= (n.*38T=) n.1222T= c.*526T= (n.*526T=) c.846T= (p.Asn282=) c.831T= (p.Asn277=) c.828T= (p.Asn276=) c.741T= (p.Asn247=) c.660T= (p.Asn220=) c.756T= (p.Asn252=) n.1254T= c.393T= (p.Asn131=) c.696T= (p.Asn232=) c.408T= (p.Asn136=) c.843T= (p.Asn281=) | |
8 | g.71299114A>C | CA371467211 | EYA1 | c.759T>G (p.Asn253Lys) c.657T>G (p.Asn219Lys) c.744T>G (p.Asn248Lys) c.*38T>G (n.*38T>G) n.1222T>G c.*526T>G (n.*526T>G) c.846T>G (p.Asn282Lys) c.831T>G (p.Asn277Lys) c.828T>G (p.Asn276Lys) c.741T>G (p.Asn247Lys) c.660T>G (p.Asn220Lys) c.756T>G (p.Asn252Lys) n.1254T>G c.393T>G (p.Asn131Lys) c.696T>G (p.Asn232Lys) c.408T>G (p.Asn136Lys) c.843T>G (p.Asn281Lys) | |
8 | g.71299114A>G | CA461327854 | EYA1 | c.759T>C (p.Asn253=) c.657T>C (p.Asn219=) c.744T>C (p.Asn248=) c.*38T>C (n.*38T>C) n.1222T>C c.*526T>C (n.*526T>C) c.846T>C (p.Asn282=) c.831T>C (p.Asn277=) c.828T>C (p.Asn276=) c.741T>C (p.Asn247=) c.660T>C (p.Asn220=) c.756T>C (p.Asn252=) n.1254T>C c.393T>C (p.Asn131=) c.696T>C (p.Asn232=) c.408T>C (p.Asn136=) c.843T>C (p.Asn281=) | gnomAD v2 gnomAD v4 |
8 | g.71299114A>T | CA371467210 | EYA1 | c.759T>A (p.Asn253Lys) c.657T>A (p.Asn219Lys) c.744T>A (p.Asn248Lys) c.*38T>A (n.*38T>A) n.1222T>A c.*526T>A (n.*526T>A) c.846T>A (p.Asn282Lys) c.831T>A (p.Asn277Lys) c.828T>A (p.Asn276Lys) c.741T>A (p.Asn247Lys) c.660T>A (p.Asn220Lys) c.756T>A (p.Asn252Lys) n.1254T>A c.393T>A (p.Asn131Lys) c.696T>A (p.Asn232Lys) c.408T>A (p.Asn136Lys) c.843T>A (p.Asn281Lys) | |
8 | g.71299115T>A | CA371467212 | EYA1 | c.758A>T (p.Asn253Ile) c.656A>T (p.Asn219Ile) c.743A>T (p.Asn248Ile) c.*37A>T (n.*37A>T) n.1221A>T c.*525A>T (n.*525A>T) c.845A>T (p.Asn282Ile) c.830A>T (p.Asn277Ile) c.827A>T (p.Asn276Ile) c.740A>T (p.Asn247Ile) c.659A>T (p.Asn220Ile) c.755A>T (p.Asn252Ile) n.1253A>T c.392A>T (p.Asn131Ile) c.695A>T (p.Asn232Ile) c.407A>T (p.Asn136Ile) c.842A>T (p.Asn281Ile) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.71299115T>C | CA179208549 | EYA1 | c.758A>G (p.Asn253Ser) c.656A>G (p.Asn219Ser) c.743A>G (p.Asn248Ser) c.*37A>G (n.*37A>G) n.1221A>G c.*525A>G (n.*525A>G) c.845A>G (p.Asn282Ser) c.830A>G (p.Asn277Ser) c.827A>G (p.Asn276Ser) c.740A>G (p.Asn247Ser) c.659A>G (p.Asn220Ser) c.755A>G (p.Asn252Ser) n.1253A>G c.392A>G (p.Asn131Ser) c.695A>G (p.Asn232Ser) c.407A>G (p.Asn136Ser) c.842A>G (p.Asn281Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299115T>G | CA371467213 | EYA1 | c.758A>C (p.Asn253Thr) c.656A>C (p.Asn219Thr) c.743A>C (p.Asn248Thr) c.*37A>C (n.*37A>C) n.1221A>C c.*525A>C (n.*525A>C) c.845A>C (p.Asn282Thr) c.830A>C (p.Asn277Thr) c.827A>C (p.Asn276Thr) c.740A>C (p.Asn247Thr) c.659A>C (p.Asn220Thr) c.755A>C (p.Asn252Thr) n.1253A>C c.392A>C (p.Asn131Thr) c.695A>C (p.Asn232Thr) c.407A>C (p.Asn136Thr) c.842A>C (p.Asn281Thr) | |
8 | g.71299115T= | CA1792728331 | EYA1 | c.758A= (p.Asn253=) c.656A= (p.Asn219=) c.743A= (p.Asn248=) c.*37A= (n.*37A=) n.1221A= c.*525A= (n.*525A=) c.845A= (p.Asn282=) c.830A= (p.Asn277=) c.827A= (p.Asn276=) c.740A= (p.Asn247=) c.659A= (p.Asn220=) c.755A= (p.Asn252=) n.1253A= c.392A= (p.Asn131=) c.695A= (p.Asn232=) c.407A= (p.Asn136=) c.842A= (p.Asn281=) | |
8 | g.71299116dup | CA1115143984 | EYA1 | c.758dup (p.Asn253LysfsTer?) c.656dup (p.Asn219LysfsTer?) c.743dup (p.Asn248LysfsTer?) c.*37dup (n.*37dup) n.1221dup c.*525dup (n.*525dup) c.845dup (p.Asn282LysfsTer?) c.830dup (p.Asn277LysfsTer?) c.827dup (p.Asn276LysfsTer?) c.740dup (p.Asn247LysfsTer?) c.659dup (p.Asn220LysfsTer?) c.755dup (p.Asn252LysfsTer?) n.1253dup c.392dup (p.Asn131LysfsTer?) c.695dup (p.Asn232LysfsTer?) c.407dup (p.Asn136LysfsTer?) c.842dup (p.Asn281LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.71299116T>A | CA371467214 | EYA1 | c.757A>T (p.Asn253Tyr) c.655A>T (p.Asn219Tyr) c.742A>T (p.Asn248Tyr) c.*36A>T (n.*36A>T) n.1220A>T c.*524A>T (n.*524A>T) c.844A>T (p.Asn282Tyr) c.829A>T (p.Asn277Tyr) c.826A>T (p.Asn276Tyr) c.739A>T (p.Asn247Tyr) c.658A>T (p.Asn220Tyr) c.754A>T (p.Asn252Tyr) n.1252A>T c.391A>T (p.Asn131Tyr) c.694A>T (p.Asn232Tyr) c.406A>T (p.Asn136Tyr) c.841A>T (p.Asn281Tyr) | |
8 | g.71299116T>C | CA371467215 | EYA1 | c.757A>G (p.Asn253Asp) c.655A>G (p.Asn219Asp) c.742A>G (p.Asn248Asp) c.*36A>G (n.*36A>G) n.1220A>G c.*524A>G (n.*524A>G) c.844A>G (p.Asn282Asp) c.829A>G (p.Asn277Asp) c.826A>G (p.Asn276Asp) c.739A>G (p.Asn247Asp) c.658A>G (p.Asn220Asp) c.754A>G (p.Asn252Asp) n.1252A>G c.391A>G (p.Asn131Asp) c.694A>G (p.Asn232Asp) c.406A>G (p.Asn136Asp) c.841A>G (p.Asn281Asp) | |
8 | g.71299116T>G | CA371467216 | EYA1 | c.757A>C (p.Asn253His) c.655A>C (p.Asn219His) c.742A>C (p.Asn248His) c.*36A>C (n.*36A>C) n.1220A>C c.*524A>C (n.*524A>C) c.844A>C (p.Asn282His) c.829A>C (p.Asn277His) c.826A>C (p.Asn276His) c.739A>C (p.Asn247His) c.658A>C (p.Asn220His) c.754A>C (p.Asn252His) n.1252A>C c.391A>C (p.Asn131His) c.694A>C (p.Asn232His) c.406A>C (p.Asn136His) c.841A>C (p.Asn281His) | |
8 | g.71299117G>A | CA461327855 | EYA1 | c.756C>T (p.Thr252=) c.654C>T (p.Thr218=) c.741C>T (p.Thr247=) c.*35C>T (n.*35C>T) n.1219C>T c.*523C>T (n.*523C>T) c.843C>T (p.Thr281=) c.828C>T (p.Thr276=) c.825C>T (p.Thr275=) c.738C>T (p.Thr246=) c.657C>T (p.Thr219=) c.753C>T (p.Thr251=) n.1251C>T c.390C>T (p.Thr130=) c.693C>T (p.Thr231=) c.405C>T (p.Thr135=) c.840C>T (p.Thr280=) | |
8 | g.71299117G>C | CA461327856 | EYA1 | c.756C>G (p.Thr252=) c.654C>G (p.Thr218=) c.741C>G (p.Thr247=) c.*35C>G (n.*35C>G) n.1219C>G c.*523C>G (n.*523C>G) c.843C>G (p.Thr281=) c.828C>G (p.Thr276=) c.825C>G (p.Thr275=) c.738C>G (p.Thr246=) c.657C>G (p.Thr219=) c.753C>G (p.Thr251=) n.1251C>G c.390C>G (p.Thr130=) c.693C>G (p.Thr231=) c.405C>G (p.Thr135=) c.840C>G (p.Thr280=) | dbSNP |
8 | g.71299117G= | CA1792728332 | EYA1 | c.756C= (p.Thr252=) c.654C= (p.Thr218=) c.741C= (p.Thr247=) c.*35C= (n.*35C=) n.1219C= c.*523C= (n.*523C=) c.843C= (p.Thr281=) c.828C= (p.Thr276=) c.825C= (p.Thr275=) c.738C= (p.Thr246=) c.657C= (p.Thr219=) c.753C= (p.Thr251=) n.1251C= c.390C= (p.Thr130=) c.693C= (p.Thr231=) c.405C= (p.Thr135=) c.840C= (p.Thr280=) | |
8 | g.71299117G>T | CA461327857 | EYA1 | c.756C>A (p.Thr252=) c.654C>A (p.Thr218=) c.741C>A (p.Thr247=) c.*35C>A (n.*35C>A) n.1219C>A c.*523C>A (n.*523C>A) c.843C>A (p.Thr281=) c.828C>A (p.Thr276=) c.825C>A (p.Thr275=) c.738C>A (p.Thr246=) c.657C>A (p.Thr219=) c.753C>A (p.Thr251=) n.1251C>A c.390C>A (p.Thr130=) c.693C>A (p.Thr231=) c.405C>A (p.Thr135=) c.840C>A (p.Thr280=) | |
8 | g.71299118G>A | CA4779674 | EYA1 | c.755C>T (p.Thr252Ile) c.653C>T (p.Thr218Ile) c.740C>T (p.Thr247Ile) c.*34C>T (n.*34C>T) n.1218C>T c.*522C>T (n.*522C>T) c.842C>T (p.Thr281Ile) c.827C>T (p.Thr276Ile) c.824C>T (p.Thr275Ile) c.737C>T (p.Thr246Ile) c.656C>T (p.Thr219Ile) c.752C>T (p.Thr251Ile) n.1250C>T c.389C>T (p.Thr130Ile) c.692C>T (p.Thr231Ile) c.404C>T (p.Thr135Ile) c.839C>T (p.Thr280Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299118G>C | CA371467218 | EYA1 | c.755C>G (p.Thr252Ser) c.653C>G (p.Thr218Ser) c.740C>G (p.Thr247Ser) c.*34C>G (n.*34C>G) n.1218C>G c.*522C>G (n.*522C>G) c.842C>G (p.Thr281Ser) c.827C>G (p.Thr276Ser) c.824C>G (p.Thr275Ser) c.737C>G (p.Thr246Ser) c.656C>G (p.Thr219Ser) c.752C>G (p.Thr251Ser) n.1250C>G c.389C>G (p.Thr130Ser) c.692C>G (p.Thr231Ser) c.404C>G (p.Thr135Ser) c.839C>G (p.Thr280Ser) | |
8 | g.71299118G= | CA1792728333 | EYA1 | c.755C= (p.Thr252=) c.653C= (p.Thr218=) c.740C= (p.Thr247=) c.*34C= (n.*34C=) n.1218C= c.*522C= (n.*522C=) c.842C= (p.Thr281=) c.827C= (p.Thr276=) c.824C= (p.Thr275=) c.737C= (p.Thr246=) c.656C= (p.Thr219=) c.752C= (p.Thr251=) n.1250C= c.389C= (p.Thr130=) c.692C= (p.Thr231=) c.404C= (p.Thr135=) c.839C= (p.Thr280=) | |
8 | g.71299118G>T | CA371467217 | EYA1 | c.755C>A (p.Thr252Asn) c.653C>A (p.Thr218Asn) c.740C>A (p.Thr247Asn) c.*34C>A (n.*34C>A) n.1218C>A c.*522C>A (n.*522C>A) c.842C>A (p.Thr281Asn) c.827C>A (p.Thr276Asn) c.824C>A (p.Thr275Asn) c.737C>A (p.Thr246Asn) c.656C>A (p.Thr219Asn) c.752C>A (p.Thr251Asn) n.1250C>A c.389C>A (p.Thr130Asn) c.692C>A (p.Thr231Asn) c.404C>A (p.Thr135Asn) c.839C>A (p.Thr280Asn) | |
8 | g.71299119T>A | CA371467219 | EYA1 | c.754A>T (p.Thr252Ser) c.652A>T (p.Thr218Ser) c.739A>T (p.Thr247Ser) c.*33A>T (n.*33A>T) n.1217A>T c.*521A>T (n.*521A>T) c.841A>T (p.Thr281Ser) c.826A>T (p.Thr276Ser) c.823A>T (p.Thr275Ser) c.736A>T (p.Thr246Ser) c.655A>T (p.Thr219Ser) c.751A>T (p.Thr251Ser) n.1249A>T c.388A>T (p.Thr130Ser) c.691A>T (p.Thr231Ser) c.403A>T (p.Thr135Ser) c.838A>T (p.Thr280Ser) | |
8 | g.71299119T>C | CA371467220 | EYA1 | c.754A>G (p.Thr252Ala) c.652A>G (p.Thr218Ala) c.739A>G (p.Thr247Ala) c.*33A>G (n.*33A>G) n.1217A>G c.*521A>G (n.*521A>G) c.841A>G (p.Thr281Ala) c.826A>G (p.Thr276Ala) c.823A>G (p.Thr275Ala) c.736A>G (p.Thr246Ala) c.655A>G (p.Thr219Ala) c.751A>G (p.Thr251Ala) n.1249A>G c.388A>G (p.Thr130Ala) c.691A>G (p.Thr231Ala) c.403A>G (p.Thr135Ala) c.838A>G (p.Thr280Ala) | |
8 | g.71299119T>G | CA371467221 | EYA1 | c.754A>C (p.Thr252Pro) c.652A>C (p.Thr218Pro) c.739A>C (p.Thr247Pro) c.*33A>C (n.*33A>C) n.1217A>C c.*521A>C (n.*521A>C) c.841A>C (p.Thr281Pro) c.826A>C (p.Thr276Pro) c.823A>C (p.Thr275Pro) c.736A>C (p.Thr246Pro) c.655A>C (p.Thr219Pro) c.751A>C (p.Thr251Pro) n.1249A>C c.388A>C (p.Thr130Pro) c.691A>C (p.Thr231Pro) c.403A>C (p.Thr135Pro) c.838A>C (p.Thr280Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71299119T= | CA1792728334 | EYA1 | c.754A= (p.Thr252=) c.652A= (p.Thr218=) c.739A= (p.Thr247=) c.*33A= (n.*33A=) n.1217A= c.*521A= (n.*521A=) c.841A= (p.Thr281=) c.826A= (p.Thr276=) c.823A= (p.Thr275=) c.736A= (p.Thr246=) c.655A= (p.Thr219=) c.751A= (p.Thr251=) n.1249A= c.388A= (p.Thr130=) c.691A= (p.Thr231=) c.403A= (p.Thr135=) c.838A= (p.Thr280=) | |
8 | g.71299120G>A | CA461327858 | EYA1 | c.753C>T (p.Ser251=) c.651C>T (p.Ser217=) c.738C>T (p.Ser246=) c.*32C>T (n.*32C>T) n.1216C>T c.*520C>T (n.*520C>T) c.840C>T (p.Ser280=) c.825C>T (p.Ser275=) c.822C>T (p.Ser274=) c.735C>T (p.Ser245=) c.654C>T (p.Ser218=) c.750C>T (p.Ser250=) n.1248C>T c.387C>T (p.Ser129=) c.690C>T (p.Ser230=) c.402C>T (p.Ser134=) c.837C>T (p.Ser279=) | COSMIC COSMIC |
8 | g.71299120G>C | CA461327859 | EYA1 | c.753C>G (p.Ser251=) c.651C>G (p.Ser217=) c.738C>G (p.Ser246=) c.*32C>G (n.*32C>G) n.1216C>G c.*520C>G (n.*520C>G) c.840C>G (p.Ser280=) c.825C>G (p.Ser275=) c.822C>G (p.Ser274=) c.735C>G (p.Ser245=) c.654C>G (p.Ser218=) c.750C>G (p.Ser250=) n.1248C>G c.387C>G (p.Ser129=) c.690C>G (p.Ser230=) c.402C>G (p.Ser134=) c.837C>G (p.Ser279=) | |
8 | g.71299120G>T | CA461327860 | EYA1 | c.753C>A (p.Ser251=) c.651C>A (p.Ser217=) c.738C>A (p.Ser246=) c.*32C>A (n.*32C>A) n.1216C>A c.*520C>A (n.*520C>A) c.840C>A (p.Ser280=) c.825C>A (p.Ser275=) c.822C>A (p.Ser274=) c.735C>A (p.Ser245=) c.654C>A (p.Ser218=) c.750C>A (p.Ser250=) n.1248C>A c.387C>A (p.Ser129=) c.690C>A (p.Ser230=) c.402C>A (p.Ser134=) c.837C>A (p.Ser279=) | |
8 | g.71299121G>A | CA371467222 | EYA1 | c.752C>T (p.Ser251Phe) c.650C>T (p.Ser217Phe) c.737C>T (p.Ser246Phe) c.*31C>T (n.*31C>T) n.1215C>T c.*519C>T (n.*519C>T) c.839C>T (p.Ser280Phe) c.824C>T (p.Ser275Phe) c.821C>T (p.Ser274Phe) c.734C>T (p.Ser245Phe) c.653C>T (p.Ser218Phe) c.749C>T (p.Ser250Phe) n.1247C>T c.386C>T (p.Ser129Phe) c.689C>T (p.Ser230Phe) c.401C>T (p.Ser134Phe) c.836C>T (p.Ser279Phe) | dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.71299121G>C | CA371467223 | EYA1 | c.752C>G (p.Ser251Cys) c.650C>G (p.Ser217Cys) c.737C>G (p.Ser246Cys) c.*31C>G (n.*31C>G) n.1215C>G c.*519C>G (n.*519C>G) c.839C>G (p.Ser280Cys) c.824C>G (p.Ser275Cys) c.821C>G (p.Ser274Cys) c.734C>G (p.Ser245Cys) c.653C>G (p.Ser218Cys) c.749C>G (p.Ser250Cys) n.1247C>G c.386C>G (p.Ser129Cys) c.689C>G (p.Ser230Cys) c.401C>G (p.Ser134Cys) c.836C>G (p.Ser279Cys) | |
8 | g.71299121G= | CA1792728335 | EYA1 | c.752C= (p.Ser251=) c.650C= (p.Ser217=) c.737C= (p.Ser246=) c.*31C= (n.*31C=) n.1215C= c.*519C= (n.*519C=) c.839C= (p.Ser280=) c.824C= (p.Ser275=) c.821C= (p.Ser274=) c.734C= (p.Ser245=) c.653C= (p.Ser218=) c.749C= (p.Ser250=) n.1247C= c.386C= (p.Ser129=) c.689C= (p.Ser230=) c.401C= (p.Ser134=) c.836C= (p.Ser279=) | |
8 | g.71299121G>T | CA371467224 | EYA1 | c.752C>A (p.Ser251Tyr) c.650C>A (p.Ser217Tyr) c.737C>A (p.Ser246Tyr) c.*31C>A (n.*31C>A) n.1215C>A c.*519C>A (n.*519C>A) c.839C>A (p.Ser280Tyr) c.824C>A (p.Ser275Tyr) c.821C>A (p.Ser274Tyr) c.734C>A (p.Ser245Tyr) c.653C>A (p.Ser218Tyr) c.749C>A (p.Ser250Tyr) n.1247C>A c.386C>A (p.Ser129Tyr) c.689C>A (p.Ser230Tyr) c.401C>A (p.Ser134Tyr) c.836C>A (p.Ser279Tyr) | |
8 | g.71299122A>C | CA371467227 | EYA1 | c.751T>G (p.Ser251Ala) c.649T>G (p.Ser217Ala) c.736T>G (p.Ser246Ala) c.*30T>G (n.*30T>G) n.1214T>G c.*518T>G (n.*518T>G) c.838T>G (p.Ser280Ala) c.823T>G (p.Ser275Ala) c.820T>G (p.Ser274Ala) c.733T>G (p.Ser245Ala) c.652T>G (p.Ser218Ala) c.748T>G (p.Ser250Ala) n.1246T>G c.385T>G (p.Ser129Ala) c.688T>G (p.Ser230Ala) c.400T>G (p.Ser134Ala) c.835T>G (p.Ser279Ala) | |
8 | g.71299122A>G | CA371467225 | EYA1 | c.751T>C (p.Ser251Pro) c.649T>C (p.Ser217Pro) c.736T>C (p.Ser246Pro) c.*30T>C (n.*30T>C) n.1214T>C c.*518T>C (n.*518T>C) c.838T>C (p.Ser280Pro) c.823T>C (p.Ser275Pro) c.820T>C (p.Ser274Pro) c.733T>C (p.Ser245Pro) c.652T>C (p.Ser218Pro) c.748T>C (p.Ser250Pro) n.1246T>C c.385T>C (p.Ser129Pro) c.688T>C (p.Ser230Pro) c.400T>C (p.Ser134Pro) c.835T>C (p.Ser279Pro) | |
8 | g.71299122A>T | CA371467226 | EYA1 | c.751T>A (p.Ser251Thr) c.649T>A (p.Ser217Thr) c.736T>A (p.Ser246Thr) c.*30T>A (n.*30T>A) n.1214T>A c.*518T>A (n.*518T>A) c.838T>A (p.Ser280Thr) c.823T>A (p.Ser275Thr) c.820T>A (p.Ser274Thr) c.733T>A (p.Ser245Thr) c.652T>A (p.Ser218Thr) c.748T>A (p.Ser250Thr) n.1246T>A c.385T>A (p.Ser129Thr) c.688T>A (p.Ser230Thr) c.400T>A (p.Ser134Thr) c.835T>A (p.Ser279Thr) | |
8 | g.71299123T>A | CA461327862 | EYA1 | c.750A>T (p.Pro250=) c.648A>T (p.Pro216=) c.735A>T (p.Pro245=) c.*29A>T (n.*29A>T) n.1213A>T c.*517A>T (n.*517A>T) c.837A>T (p.Pro279=) c.822A>T (p.Pro274=) c.819A>T (p.Pro273=) c.732A>T (p.Pro244=) c.651A>T (p.Pro217=) c.747A>T (p.Pro249=) n.1245A>T c.384A>T (p.Pro128=) c.687A>T (p.Pro229=) c.399A>T (p.Pro133=) c.834A>T (p.Pro278=) | |
8 | g.71299123T>C | CA461327863 | EYA1 | c.750A>G (p.Pro250=) c.648A>G (p.Pro216=) c.735A>G (p.Pro245=) c.*29A>G (n.*29A>G) n.1213A>G c.*517A>G (n.*517A>G) c.837A>G (p.Pro279=) c.822A>G (p.Pro274=) c.819A>G (p.Pro273=) c.732A>G (p.Pro244=) c.651A>G (p.Pro217=) c.747A>G (p.Pro249=) n.1245A>G c.384A>G (p.Pro128=) c.687A>G (p.Pro229=) c.399A>G (p.Pro133=) c.834A>G (p.Pro278=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299123T>G | CA461327861 | EYA1 | c.750A>C (p.Pro250=) c.648A>C (p.Pro216=) c.735A>C (p.Pro245=) c.*29A>C (n.*29A>C) n.1213A>C c.*517A>C (n.*517A>C) c.837A>C (p.Pro279=) c.822A>C (p.Pro274=) c.819A>C (p.Pro273=) c.732A>C (p.Pro244=) c.651A>C (p.Pro217=) c.747A>C (p.Pro249=) n.1245A>C c.384A>C (p.Pro128=) c.687A>C (p.Pro229=) c.399A>C (p.Pro133=) c.834A>C (p.Pro278=) | |
8 | g.71299123T= | CA1792728336 | EYA1 | c.750A= (p.Pro250=) c.648A= (p.Pro216=) c.735A= (p.Pro245=) c.*29A= (n.*29A=) n.1213A= c.*517A= (n.*517A=) c.837A= (p.Pro279=) c.822A= (p.Pro274=) c.819A= (p.Pro273=) c.732A= (p.Pro244=) c.651A= (p.Pro217=) c.747A= (p.Pro249=) n.1245A= c.384A= (p.Pro128=) c.687A= (p.Pro229=) c.399A= (p.Pro133=) c.834A= (p.Pro278=) | |
8 | g.71299123_71299124insACAC | CA915945735 | EYA1 | c.749_750insGTGT (p.Ser251CysfsTer?) c.647_648insGTGT (p.Ser217CysfsTer?) c.734_735insGTGT (p.Ser246CysfsTer?) c.*28_*29insGTGT (n.*28_*29insGTGT) n.1212_1213insGTGT c.*516_*517insGTGT (n.*516_*517insGTGT) c.836_837insGTGT (p.Ser280CysfsTer?) c.821_822insGTGT (p.Ser275CysfsTer?) c.818_819insGTGT (p.Ser274CysfsTer?) c.731_732insGTGT (p.Ser245CysfsTer?) c.650_651insGTGT (p.Ser218CysfsTer?) c.746_747insGTGT (p.Ser250CysfsTer?) n.1244_1245insGTGT c.383_384insGTGT (p.Ser129CysfsTer?) c.686_687insGTGT (p.Ser230CysfsTer?) c.398_399insGTGT (p.Ser134CysfsTer?) c.833_834insGTGT (p.Ser279CysfsTer?) | ClinVar dbSNP |
8 | g.71299124G>A | CA371467228 | EYA1 | c.749C>T (p.Pro250Leu) c.647C>T (p.Pro216Leu) c.734C>T (p.Pro245Leu) c.*28C>T (n.*28C>T) n.1212C>T c.*516C>T (n.*516C>T) c.836C>T (p.Pro279Leu) c.821C>T (p.Pro274Leu) c.818C>T (p.Pro273Leu) c.731C>T (p.Pro244Leu) c.650C>T (p.Pro217Leu) c.746C>T (p.Pro249Leu) n.1244C>T c.383C>T (p.Pro128Leu) c.686C>T (p.Pro229Leu) c.398C>T (p.Pro133Leu) c.833C>T (p.Pro278Leu) | |
8 | g.71299124G>C | CA371467229 | EYA1 | c.749C>G (p.Pro250Arg) c.647C>G (p.Pro216Arg) c.734C>G (p.Pro245Arg) c.*28C>G (n.*28C>G) n.1212C>G c.*516C>G (n.*516C>G) c.836C>G (p.Pro279Arg) c.821C>G (p.Pro274Arg) c.818C>G (p.Pro273Arg) c.731C>G (p.Pro244Arg) c.650C>G (p.Pro217Arg) c.746C>G (p.Pro249Arg) n.1244C>G c.383C>G (p.Pro128Arg) c.686C>G (p.Pro229Arg) c.398C>G (p.Pro133Arg) c.833C>G (p.Pro278Arg) | |
8 | g.71299124G>T | CA371467230 | EYA1 | c.749C>A (p.Pro250Gln) c.647C>A (p.Pro216Gln) c.734C>A (p.Pro245Gln) c.*28C>A (n.*28C>A) n.1212C>A c.*516C>A (n.*516C>A) c.836C>A (p.Pro279Gln) c.821C>A (p.Pro274Gln) c.818C>A (p.Pro273Gln) c.731C>A (p.Pro244Gln) c.650C>A (p.Pro217Gln) c.746C>A (p.Pro249Gln) n.1244C>A c.383C>A (p.Pro128Gln) c.686C>A (p.Pro229Gln) c.398C>A (p.Pro133Gln) c.833C>A (p.Pro278Gln) | |
8 | g.71299125G>A | CA371467231 | EYA1 | c.748C>T (p.Pro250Ser) c.646C>T (p.Pro216Ser) c.733C>T (p.Pro245Ser) c.*27C>T (n.*27C>T) n.1211C>T c.*515C>T (n.*515C>T) c.835C>T (p.Pro279Ser) c.820C>T (p.Pro274Ser) c.817C>T (p.Pro273Ser) c.730C>T (p.Pro244Ser) c.649C>T (p.Pro217Ser) c.745C>T (p.Pro249Ser) n.1243C>T c.382C>T (p.Pro128Ser) c.685C>T (p.Pro229Ser) c.397C>T (p.Pro133Ser) c.832C>T (p.Pro278Ser) | dbSNP |
8 | g.71299125G>C | CA371467232 | EYA1 | c.748C>G (p.Pro250Ala) c.646C>G (p.Pro216Ala) c.733C>G (p.Pro245Ala) c.*27C>G (n.*27C>G) n.1211C>G c.*515C>G (n.*515C>G) c.835C>G (p.Pro279Ala) c.820C>G (p.Pro274Ala) c.817C>G (p.Pro273Ala) c.730C>G (p.Pro244Ala) c.649C>G (p.Pro217Ala) c.745C>G (p.Pro249Ala) n.1243C>G c.382C>G (p.Pro128Ala) c.685C>G (p.Pro229Ala) c.397C>G (p.Pro133Ala) c.832C>G (p.Pro278Ala) | |
8 | g.71299125G= | CA1792728337 | EYA1 | c.748C= (p.Pro250=) c.646C= (p.Pro216=) c.733C= (p.Pro245=) c.*27C= (n.*27C=) n.1211C= c.*515C= (n.*515C=) c.835C= (p.Pro279=) c.820C= (p.Pro274=) c.817C= (p.Pro273=) c.730C= (p.Pro244=) c.649C= (p.Pro217=) c.745C= (p.Pro249=) n.1243C= c.382C= (p.Pro128=) c.685C= (p.Pro229=) c.397C= (p.Pro133=) c.832C= (p.Pro278=) | |
8 | g.71299125G>T | CA371467233 | EYA1 | c.748C>A (p.Pro250Thr) c.646C>A (p.Pro216Thr) c.733C>A (p.Pro245Thr) c.*27C>A (n.*27C>A) n.1211C>A c.*515C>A (n.*515C>A) c.835C>A (p.Pro279Thr) c.820C>A (p.Pro274Thr) c.817C>A (p.Pro273Thr) c.730C>A (p.Pro244Thr) c.649C>A (p.Pro217Thr) c.745C>A (p.Pro249Thr) n.1243C>A c.382C>A (p.Pro128Thr) c.685C>A (p.Pro229Thr) c.397C>A (p.Pro133Thr) c.832C>A (p.Pro278Thr) | |
8 | g.71299126T>A | CA461327864 | EYA1 | c.747A>T (p.Thr249=) c.645A>T (p.Thr215=) c.732A>T (p.Thr244=) c.*26A>T (n.*26A>T) n.1210A>T c.*514A>T (n.*514A>T) c.834A>T (p.Thr278=) c.819A>T (p.Thr273=) c.816A>T (p.Thr272=) c.729A>T (p.Thr243=) c.648A>T (p.Thr216=) c.744A>T (p.Thr248=) n.1242A>T c.381A>T (p.Thr127=) c.684A>T (p.Thr228=) c.396A>T (p.Thr132=) c.831A>T (p.Thr277=) | |
8 | g.71299126T>C | CA461327865 | EYA1 | c.747A>G (p.Thr249=) c.645A>G (p.Thr215=) c.732A>G (p.Thr244=) c.*26A>G (n.*26A>G) n.1210A>G c.*514A>G (n.*514A>G) c.834A>G (p.Thr278=) c.819A>G (p.Thr273=) c.816A>G (p.Thr272=) c.729A>G (p.Thr243=) c.648A>G (p.Thr216=) c.744A>G (p.Thr248=) n.1242A>G c.381A>G (p.Thr127=) c.684A>G (p.Thr228=) c.396A>G (p.Thr132=) c.831A>G (p.Thr277=) | |
8 | g.71299126T>G | CA461327866 | EYA1 | c.747A>C (p.Thr249=) c.645A>C (p.Thr215=) c.732A>C (p.Thr244=) c.*26A>C (n.*26A>C) n.1210A>C c.*514A>C (n.*514A>C) c.834A>C (p.Thr278=) c.819A>C (p.Thr273=) c.816A>C (p.Thr272=) c.729A>C (p.Thr243=) c.648A>C (p.Thr216=) c.744A>C (p.Thr248=) n.1242A>C c.381A>C (p.Thr127=) c.684A>C (p.Thr228=) c.396A>C (p.Thr132=) c.831A>C (p.Thr277=) | dbSNP |
8 | g.71299126T= | CA1792728338 | EYA1 | c.747A= (p.Thr249=) c.645A= (p.Thr215=) c.732A= (p.Thr244=) c.*26A= (n.*26A=) n.1210A= c.*514A= (n.*514A=) c.834A= (p.Thr278=) c.819A= (p.Thr273=) c.816A= (p.Thr272=) c.729A= (p.Thr243=) c.648A= (p.Thr216=) c.744A= (p.Thr248=) n.1242A= c.381A= (p.Thr127=) c.684A= (p.Thr228=) c.396A= (p.Thr132=) c.831A= (p.Thr277=) | |
8 | g.71299127G>A | CA371467234 | EYA1 | c.746C>T (p.Thr249Ile) c.644C>T (p.Thr215Ile) c.731C>T (p.Thr244Ile) c.*25C>T (n.*25C>T) n.1209C>T c.*513C>T (n.*513C>T) c.833C>T (p.Thr278Ile) c.818C>T (p.Thr273Ile) c.815C>T (p.Thr272Ile) c.728C>T (p.Thr243Ile) c.647C>T (p.Thr216Ile) c.743C>T (p.Thr248Ile) n.1241C>T c.380C>T (p.Thr127Ile) c.683C>T (p.Thr228Ile) c.395C>T (p.Thr132Ile) c.830C>T (p.Thr277Ile) | |
8 | g.71299127G>C | CA371467235 | EYA1 | c.746C>G (p.Thr249Arg) c.644C>G (p.Thr215Arg) c.731C>G (p.Thr244Arg) c.*25C>G (n.*25C>G) n.1209C>G c.*513C>G (n.*513C>G) c.833C>G (p.Thr278Arg) c.818C>G (p.Thr273Arg) c.815C>G (p.Thr272Arg) c.728C>G (p.Thr243Arg) c.647C>G (p.Thr216Arg) c.743C>G (p.Thr248Arg) n.1241C>G c.380C>G (p.Thr127Arg) c.683C>G (p.Thr228Arg) c.395C>G (p.Thr132Arg) c.830C>G (p.Thr277Arg) | |
8 | g.71299127G>T | CA371467236 | EYA1 | c.746C>A (p.Thr249Lys) c.644C>A (p.Thr215Lys) c.731C>A (p.Thr244Lys) c.*25C>A (n.*25C>A) n.1209C>A c.*513C>A (n.*513C>A) c.833C>A (p.Thr278Lys) c.818C>A (p.Thr273Lys) c.815C>A (p.Thr272Lys) c.728C>A (p.Thr243Lys) c.647C>A (p.Thr216Lys) c.743C>A (p.Thr248Lys) n.1241C>A c.380C>A (p.Thr127Lys) c.683C>A (p.Thr228Lys) c.395C>A (p.Thr132Lys) c.830C>A (p.Thr277Lys) | COSMIC COSMIC |
8 | g.71299128T>A | CA371467237 | EYA1 | c.745A>T (p.Thr249Ser) c.643A>T (p.Thr215Ser) c.730A>T (p.Thr244Ser) c.*24A>T (n.*24A>T) n.1208A>T c.*512A>T (n.*512A>T) c.832A>T (p.Thr278Ser) c.817A>T (p.Thr273Ser) c.814A>T (p.Thr272Ser) c.727A>T (p.Thr243Ser) c.646A>T (p.Thr216Ser) c.742A>T (p.Thr248Ser) n.1240A>T c.379A>T (p.Thr127Ser) c.682A>T (p.Thr228Ser) c.394A>T (p.Thr132Ser) c.829A>T (p.Thr277Ser) | |
8 | g.71299128T>C | CA371467238 | EYA1 | c.745A>G (p.Thr249Ala) c.643A>G (p.Thr215Ala) c.730A>G (p.Thr244Ala) c.*24A>G (n.*24A>G) n.1208A>G c.*512A>G (n.*512A>G) c.832A>G (p.Thr278Ala) c.817A>G (p.Thr273Ala) c.814A>G (p.Thr272Ala) c.727A>G (p.Thr243Ala) c.646A>G (p.Thr216Ala) c.742A>G (p.Thr248Ala) n.1240A>G c.379A>G (p.Thr127Ala) c.682A>G (p.Thr228Ala) c.394A>G (p.Thr132Ala) c.829A>G (p.Thr277Ala) | |
8 | g.71299128T>G | CA371467239 | EYA1 | c.745A>C (p.Thr249Pro) c.643A>C (p.Thr215Pro) c.730A>C (p.Thr244Pro) c.*24A>C (n.*24A>C) n.1208A>C c.*512A>C (n.*512A>C) c.832A>C (p.Thr278Pro) c.817A>C (p.Thr273Pro) c.814A>C (p.Thr272Pro) c.727A>C (p.Thr243Pro) c.646A>C (p.Thr216Pro) c.742A>C (p.Thr248Pro) n.1240A>C c.379A>C (p.Thr127Pro) c.682A>C (p.Thr228Pro) c.394A>C (p.Thr132Pro) c.829A>C (p.Thr277Pro) | |
8 | g.71299129C>A | CA461327867 | EYA1 | c.744G>T (p.Thr248=) c.642G>T (p.Thr214=) c.729G>T (p.Thr243=) c.*23G>T (n.*23G>T) n.1207G>T c.*511G>T (n.*511G>T) c.831G>T (p.Thr277=) c.816G>T (p.Thr272=) c.813G>T (p.Thr271=) c.726G>T (p.Thr242=) c.645G>T (p.Thr215=) c.741G>T (p.Thr247=) n.1239G>T c.378G>T (p.Thr126=) c.681G>T (p.Thr227=) c.393G>T (p.Thr131=) c.828G>T (p.Thr276=) | |
8 | g.71299129C= | CA1792728339 | EYA1 | c.744G= (p.Thr248=) c.642G= (p.Thr214=) c.729G= (p.Thr243=) c.*23G= (n.*23G=) n.1207G= c.*511G= (n.*511G=) c.831G= (p.Thr277=) c.816G= (p.Thr272=) c.813G= (p.Thr271=) c.726G= (p.Thr242=) c.645G= (p.Thr215=) c.741G= (p.Thr247=) n.1239G= c.378G= (p.Thr126=) c.681G= (p.Thr227=) c.393G= (p.Thr131=) c.828G= (p.Thr276=) | |
8 | g.71299129C>G | CA461327868 | EYA1 | c.744G>C (p.Thr248=) c.642G>C (p.Thr214=) c.729G>C (p.Thr243=) c.*23G>C (n.*23G>C) n.1207G>C c.*511G>C (n.*511G>C) c.831G>C (p.Thr277=) c.816G>C (p.Thr272=) c.813G>C (p.Thr271=) c.726G>C (p.Thr242=) c.645G>C (p.Thr215=) c.741G>C (p.Thr247=) n.1239G>C c.378G>C (p.Thr126=) c.681G>C (p.Thr227=) c.393G>C (p.Thr131=) c.828G>C (p.Thr276=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299129C>T | CA182648 | EYA1 | c.744G>A (p.Thr248=) c.642G>A (p.Thr214=) c.729G>A (p.Thr243=) c.*23G>A (n.*23G>A) n.1207G>A c.*511G>A (n.*511G>A) c.831G>A (p.Thr277=) c.816G>A (p.Thr272=) c.813G>A (p.Thr271=) c.726G>A (p.Thr242=) c.645G>A (p.Thr215=) c.741G>A (p.Thr247=) n.1239G>A c.378G>A (p.Thr126=) c.681G>A (p.Thr227=) c.393G>A (p.Thr131=) c.828G>A (p.Thr276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299130G>A | CA4779675 | EYA1 | c.743C>T (p.Thr248Met) c.641C>T (p.Thr214Met) c.728C>T (p.Thr243Met) c.*22C>T (n.*22C>T) n.1206C>T c.*510C>T (n.*510C>T) c.830C>T (p.Thr277Met) c.815C>T (p.Thr272Met) c.812C>T (p.Thr271Met) c.725C>T (p.Thr242Met) c.644C>T (p.Thr215Met) c.740C>T (p.Thr247Met) n.1238C>T c.377C>T (p.Thr126Met) c.680C>T (p.Thr227Met) c.392C>T (p.Thr131Met) c.827C>T (p.Thr276Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.71299130G>C | CA371467241 | EYA1 | c.743C>G (p.Thr248Arg) c.641C>G (p.Thr214Arg) c.728C>G (p.Thr243Arg) c.*22C>G (n.*22C>G) n.1206C>G c.*510C>G (n.*510C>G) c.830C>G (p.Thr277Arg) c.815C>G (p.Thr272Arg) c.812C>G (p.Thr271Arg) c.725C>G (p.Thr242Arg) c.644C>G (p.Thr215Arg) c.740C>G (p.Thr247Arg) n.1238C>G c.377C>G (p.Thr126Arg) c.680C>G (p.Thr227Arg) c.392C>G (p.Thr131Arg) c.827C>G (p.Thr276Arg) | |
8 | g.71299130G= | CA1792728340 | EYA1 | c.743C= (p.Thr248=) c.641C= (p.Thr214=) c.728C= (p.Thr243=) c.*22C= (n.*22C=) n.1206C= c.*510C= (n.*510C=) c.830C= (p.Thr277=) c.815C= (p.Thr272=) c.812C= (p.Thr271=) c.725C= (p.Thr242=) c.644C= (p.Thr215=) c.740C= (p.Thr247=) n.1238C= c.377C= (p.Thr126=) c.680C= (p.Thr227=) c.392C= (p.Thr131=) c.827C= (p.Thr276=) | |
8 | g.71299130G>T | CA371467240 | EYA1 | c.743C>A (p.Thr248Lys) c.641C>A (p.Thr214Lys) c.728C>A (p.Thr243Lys) c.*22C>A (n.*22C>A) n.1206C>A c.*510C>A (n.*510C>A) c.830C>A (p.Thr277Lys) c.815C>A (p.Thr272Lys) c.812C>A (p.Thr271Lys) c.725C>A (p.Thr242Lys) c.644C>A (p.Thr215Lys) c.740C>A (p.Thr247Lys) n.1238C>A c.377C>A (p.Thr126Lys) c.680C>A (p.Thr227Lys) c.392C>A (p.Thr131Lys) c.827C>A (p.Thr276Lys) | |
8 | g.71299131T>A | CA371467242 | EYA1 | c.742A>T (p.Thr248Ser) c.640A>T (p.Thr214Ser) c.727A>T (p.Thr243Ser) c.*21A>T (n.*21A>T) n.1205A>T c.*509A>T (n.*509A>T) c.829A>T (p.Thr277Ser) c.814A>T (p.Thr272Ser) c.811A>T (p.Thr271Ser) c.724A>T (p.Thr242Ser) c.643A>T (p.Thr215Ser) c.739A>T (p.Thr247Ser) n.1237A>T c.376A>T (p.Thr126Ser) c.679A>T (p.Thr227Ser) c.391A>T (p.Thr131Ser) c.826A>T (p.Thr276Ser) | |
8 | g.71299131T>C | CA371467243 | EYA1 | c.742A>G (p.Thr248Ala) c.640A>G (p.Thr214Ala) c.727A>G (p.Thr243Ala) c.*21A>G (n.*21A>G) n.1205A>G c.*509A>G (n.*509A>G) c.829A>G (p.Thr277Ala) c.814A>G (p.Thr272Ala) c.811A>G (p.Thr271Ala) c.724A>G (p.Thr242Ala) c.643A>G (p.Thr215Ala) c.739A>G (p.Thr247Ala) n.1237A>G c.376A>G (p.Thr126Ala) c.679A>G (p.Thr227Ala) c.391A>G (p.Thr131Ala) c.826A>G (p.Thr276Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299131T>G | CA371467244 | EYA1 | c.742A>C (p.Thr248Pro) c.640A>C (p.Thr214Pro) c.727A>C (p.Thr243Pro) c.*21A>C (n.*21A>C) n.1205A>C c.*509A>C (n.*509A>C) c.829A>C (p.Thr277Pro) c.814A>C (p.Thr272Pro) c.811A>C (p.Thr271Pro) c.724A>C (p.Thr242Pro) c.643A>C (p.Thr215Pro) c.739A>C (p.Thr247Pro) n.1237A>C c.376A>C (p.Thr126Pro) c.679A>C (p.Thr227Pro) c.391A>C (p.Thr131Pro) c.826A>C (p.Thr276Pro) | |
8 | g.71299131T= | CA1792728341 | EYA1 | c.742A= (p.Thr248=) c.640A= (p.Thr214=) c.727A= (p.Thr243=) c.*21A= (n.*21A=) n.1205A= c.*509A= (n.*509A=) c.829A= (p.Thr277=) c.814A= (p.Thr272=) c.811A= (p.Thr271=) c.724A= (p.Thr242=) c.643A= (p.Thr215=) c.739A= (p.Thr247=) n.1237A= c.376A= (p.Thr126=) c.679A= (p.Thr227=) c.391A= (p.Thr131=) c.826A= (p.Thr276=) | |
8 | g.71299132T>A | CA461327869 | EYA1 | c.741A>T (p.Pro247=) c.639A>T (p.Pro213=) c.726A>T (p.Pro242=) c.*20A>T (n.*20A>T) n.1204A>T c.*508A>T (n.*508A>T) c.828A>T (p.Pro276=) c.813A>T (p.Pro271=) c.810A>T (p.Pro270=) c.723A>T (p.Pro241=) c.642A>T (p.Pro214=) c.738A>T (p.Pro246=) n.1236A>T c.375A>T (p.Pro125=) c.678A>T (p.Pro226=) c.390A>T (p.Pro130=) c.825A>T (p.Pro275=) | |
8 | g.71299132T>C | CA461327870 | EYA1 | c.741A>G (p.Pro247=) c.639A>G (p.Pro213=) c.726A>G (p.Pro242=) c.*20A>G (n.*20A>G) n.1204A>G c.*508A>G (n.*508A>G) c.828A>G (p.Pro276=) c.813A>G (p.Pro271=) c.810A>G (p.Pro270=) c.723A>G (p.Pro241=) c.642A>G (p.Pro214=) c.738A>G (p.Pro246=) n.1236A>G c.375A>G (p.Pro125=) c.678A>G (p.Pro226=) c.390A>G (p.Pro130=) c.825A>G (p.Pro275=) | |
8 | g.71299132T>G | CA461327871 | EYA1 | c.741A>C (p.Pro247=) c.639A>C (p.Pro213=) c.726A>C (p.Pro242=) c.*20A>C (n.*20A>C) n.1204A>C c.*508A>C (n.*508A>C) c.828A>C (p.Pro276=) c.813A>C (p.Pro271=) c.810A>C (p.Pro270=) c.723A>C (p.Pro241=) c.642A>C (p.Pro214=) c.738A>C (p.Pro246=) n.1236A>C c.375A>C (p.Pro125=) c.678A>C (p.Pro226=) c.390A>C (p.Pro130=) c.825A>C (p.Pro275=) | |
8 | g.71299133G>A | CA371467245 | EYA1 | c.740C>T (p.Pro247Leu) c.638C>T (p.Pro213Leu) c.725C>T (p.Pro242Leu) c.*19C>T (n.*19C>T) n.1203C>T c.*507C>T (n.*507C>T) c.827C>T (p.Pro276Leu) c.812C>T (p.Pro271Leu) c.809C>T (p.Pro270Leu) c.722C>T (p.Pro241Leu) c.641C>T (p.Pro214Leu) c.737C>T (p.Pro246Leu) n.1235C>T c.374C>T (p.Pro125Leu) c.677C>T (p.Pro226Leu) c.389C>T (p.Pro130Leu) c.824C>T (p.Pro275Leu) | |
8 | g.71299133G>C | CA371467246 | EYA1 | c.740C>G (p.Pro247Arg) c.638C>G (p.Pro213Arg) c.725C>G (p.Pro242Arg) c.*19C>G (n.*19C>G) n.1203C>G c.*507C>G (n.*507C>G) c.827C>G (p.Pro276Arg) c.812C>G (p.Pro271Arg) c.809C>G (p.Pro270Arg) c.722C>G (p.Pro241Arg) c.641C>G (p.Pro214Arg) c.737C>G (p.Pro246Arg) n.1235C>G c.374C>G (p.Pro125Arg) c.677C>G (p.Pro226Arg) c.389C>G (p.Pro130Arg) c.824C>G (p.Pro275Arg) | |
8 | g.71299133G>T | CA371467247 | EYA1 | c.740C>A (p.Pro247Gln) c.638C>A (p.Pro213Gln) c.725C>A (p.Pro242Gln) c.*19C>A (n.*19C>A) n.1203C>A c.*507C>A (n.*507C>A) c.827C>A (p.Pro276Gln) c.812C>A (p.Pro271Gln) c.809C>A (p.Pro270Gln) c.722C>A (p.Pro241Gln) c.641C>A (p.Pro214Gln) c.737C>A (p.Pro246Gln) n.1235C>A c.374C>A (p.Pro125Gln) c.677C>A (p.Pro226Gln) c.389C>A (p.Pro130Gln) c.824C>A (p.Pro275Gln) | |
8 | g.71299134G>A | CA371467248 | EYA1 | c.739C>T (p.Pro247Ser) c.637C>T (p.Pro213Ser) c.724C>T (p.Pro242Ser) c.*18C>T (n.*18C>T) n.1202C>T c.*506C>T (n.*506C>T) c.826C>T (p.Pro276Ser) c.811C>T (p.Pro271Ser) c.808C>T (p.Pro270Ser) c.721C>T (p.Pro241Ser) c.640C>T (p.Pro214Ser) c.736C>T (p.Pro246Ser) n.1234C>T c.373C>T (p.Pro125Ser) c.676C>T (p.Pro226Ser) c.388C>T (p.Pro130Ser) c.823C>T (p.Pro275Ser) | |
8 | g.71299134G>C | CA371467249 | EYA1 | c.739C>G (p.Pro247Ala) c.637C>G (p.Pro213Ala) c.724C>G (p.Pro242Ala) c.*18C>G (n.*18C>G) n.1202C>G c.*506C>G (n.*506C>G) c.826C>G (p.Pro276Ala) c.811C>G (p.Pro271Ala) c.808C>G (p.Pro270Ala) c.721C>G (p.Pro241Ala) c.640C>G (p.Pro214Ala) c.736C>G (p.Pro246Ala) n.1234C>G c.373C>G (p.Pro125Ala) c.676C>G (p.Pro226Ala) c.388C>G (p.Pro130Ala) c.823C>G (p.Pro275Ala) | |
8 | g.71299134G>T | CA371467250 | EYA1 | c.739C>A (p.Pro247Thr) c.637C>A (p.Pro213Thr) c.724C>A (p.Pro242Thr) c.*18C>A (n.*18C>A) n.1202C>A c.*506C>A (n.*506C>A) c.826C>A (p.Pro276Thr) c.811C>A (p.Pro271Thr) c.808C>A (p.Pro270Thr) c.721C>A (p.Pro241Thr) c.640C>A (p.Pro214Thr) c.736C>A (p.Pro246Thr) n.1234C>A c.373C>A (p.Pro125Thr) c.676C>A (p.Pro226Thr) c.388C>A (p.Pro130Thr) c.823C>A (p.Pro275Thr) | COSMIC COSMIC |
8 | g.71299135G>A | CA4779676 | EYA1 | c.738C>T (p.Ser246=) c.636C>T (p.Ser212=) c.723C>T (p.Ser241=) c.*17C>T (n.*17C>T) n.1201C>T c.*505C>T (n.*505C>T) c.825C>T (p.Ser275=) c.810C>T (p.Ser270=) c.807C>T (p.Ser269=) c.720C>T (p.Ser240=) c.639C>T (p.Ser213=) c.735C>T (p.Ser245=) n.1233C>T c.372C>T (p.Ser124=) c.675C>T (p.Ser225=) c.387C>T (p.Ser129=) c.822C>T (p.Ser274=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71299135G>C | CA371467251 | EYA1 | c.738C>G (p.Ser246Arg) c.636C>G (p.Ser212Arg) c.723C>G (p.Ser241Arg) c.*17C>G (n.*17C>G) n.1201C>G c.*505C>G (n.*505C>G) c.825C>G (p.Ser275Arg) c.810C>G (p.Ser270Arg) c.807C>G (p.Ser269Arg) c.720C>G (p.Ser240Arg) c.639C>G (p.Ser213Arg) c.735C>G (p.Ser245Arg) n.1233C>G c.372C>G (p.Ser124Arg) c.675C>G (p.Ser225Arg) c.387C>G (p.Ser129Arg) c.822C>G (p.Ser274Arg) | |
8 | g.71299135G= | CA1792728342 | EYA1 | c.738C= (p.Ser246=) c.636C= (p.Ser212=) c.723C= (p.Ser241=) c.*17C= (n.*17C=) n.1201C= c.*505C= (n.*505C=) c.825C= (p.Ser275=) c.810C= (p.Ser270=) c.807C= (p.Ser269=) c.720C= (p.Ser240=) c.639C= (p.Ser213=) c.735C= (p.Ser245=) n.1233C= c.372C= (p.Ser124=) c.675C= (p.Ser225=) c.387C= (p.Ser129=) c.822C= (p.Ser274=) | |
8 | g.71299135G>T | CA371467252 | EYA1 | c.738C>A (p.Ser246Arg) c.636C>A (p.Ser212Arg) c.723C>A (p.Ser241Arg) c.*17C>A (n.*17C>A) n.1201C>A c.*505C>A (n.*505C>A) c.825C>A (p.Ser275Arg) c.810C>A (p.Ser270Arg) c.807C>A (p.Ser269Arg) c.720C>A (p.Ser240Arg) c.639C>A (p.Ser213Arg) c.735C>A (p.Ser245Arg) n.1233C>A c.372C>A (p.Ser124Arg) c.675C>A (p.Ser225Arg) c.387C>A (p.Ser129Arg) c.822C>A (p.Ser274Arg) | |
8 | g.71299136C>A | CA371467255 | EYA1 | c.737G>T (p.Ser246Ile) c.635G>T (p.Ser212Ile) c.722G>T (p.Ser241Ile) c.*16G>T (n.*16G>T) n.1200G>T c.*504G>T (n.*504G>T) c.824G>T (p.Ser275Ile) c.809G>T (p.Ser270Ile) c.806G>T (p.Ser269Ile) c.719G>T (p.Ser240Ile) c.638G>T (p.Ser213Ile) c.734G>T (p.Ser245Ile) n.1232G>T c.371G>T (p.Ser124Ile) c.674G>T (p.Ser225Ile) c.386G>T (p.Ser129Ile) c.821G>T (p.Ser274Ile) | |
8 | g.71299136C= | CA1792728343 | EYA1 | c.737G= (p.Ser246=) c.635G= (p.Ser212=) c.722G= (p.Ser241=) c.*16G= (n.*16G=) n.1200G= c.*504G= (n.*504G=) c.824G= (p.Ser275=) c.809G= (p.Ser270=) c.806G= (p.Ser269=) c.719G= (p.Ser240=) c.638G= (p.Ser213=) c.734G= (p.Ser245=) n.1232G= c.371G= (p.Ser124=) c.674G= (p.Ser225=) c.386G= (p.Ser129=) c.821G= (p.Ser274=) | |
8 | g.71299136C>G | CA371467254 | EYA1 | c.737G>C (p.Ser246Thr) c.635G>C (p.Ser212Thr) c.722G>C (p.Ser241Thr) c.*16G>C (n.*16G>C) n.1200G>C c.*504G>C (n.*504G>C) c.824G>C (p.Ser275Thr) c.809G>C (p.Ser270Thr) c.806G>C (p.Ser269Thr) c.719G>C (p.Ser240Thr) c.638G>C (p.Ser213Thr) c.734G>C (p.Ser245Thr) n.1232G>C c.371G>C (p.Ser124Thr) c.674G>C (p.Ser225Thr) c.386G>C (p.Ser129Thr) c.821G>C (p.Ser274Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71299136C>T | CA371467253 | EYA1 | c.737G>A (p.Ser246Asn) c.635G>A (p.Ser212Asn) c.722G>A (p.Ser241Asn) c.*16G>A (n.*16G>A) n.1200G>A c.*504G>A (n.*504G>A) c.824G>A (p.Ser275Asn) c.809G>A (p.Ser270Asn) c.806G>A (p.Ser269Asn) c.719G>A (p.Ser240Asn) c.638G>A (p.Ser213Asn) c.734G>A (p.Ser245Asn) n.1232G>A c.371G>A (p.Ser124Asn) c.674G>A (p.Ser225Asn) c.386G>A (p.Ser129Asn) c.821G>A (p.Ser274Asn) | dbSNP |
8 | g.71299137T>A | CA371467256 | EYA1 | c.736A>T (p.Ser246Cys) c.634A>T (p.Ser212Cys) c.721A>T (p.Ser241Cys) c.*15A>T (n.*15A>T) n.1199A>T c.*503A>T (n.*503A>T) c.823A>T (p.Ser275Cys) c.808A>T (p.Ser270Cys) c.805A>T (p.Ser269Cys) c.718A>T (p.Ser240Cys) c.637A>T (p.Ser213Cys) c.733A>T (p.Ser245Cys) n.1231A>T c.370A>T (p.Ser124Cys) c.673A>T (p.Ser225Cys) c.385A>T (p.Ser129Cys) c.820A>T (p.Ser274Cys) | |
8 | g.71299137T>C | CA371467257 | EYA1 | c.736A>G (p.Ser246Gly) c.634A>G (p.Ser212Gly) c.721A>G (p.Ser241Gly) c.*15A>G (n.*15A>G) n.1199A>G c.*503A>G (n.*503A>G) c.823A>G (p.Ser275Gly) c.808A>G (p.Ser270Gly) c.805A>G (p.Ser269Gly) c.718A>G (p.Ser240Gly) c.637A>G (p.Ser213Gly) c.733A>G (p.Ser245Gly) n.1231A>G c.370A>G (p.Ser124Gly) c.673A>G (p.Ser225Gly) c.385A>G (p.Ser129Gly) c.820A>G (p.Ser274Gly) | |
8 | g.71299137T>G | CA371467258 | EYA1 | c.736A>C (p.Ser246Arg) c.634A>C (p.Ser212Arg) c.721A>C (p.Ser241Arg) c.*15A>C (n.*15A>C) n.1199A>C c.*503A>C (n.*503A>C) c.823A>C (p.Ser275Arg) c.808A>C (p.Ser270Arg) c.805A>C (p.Ser269Arg) c.718A>C (p.Ser240Arg) c.637A>C (p.Ser213Arg) c.733A>C (p.Ser245Arg) n.1231A>C c.370A>C (p.Ser124Arg) c.673A>C (p.Ser225Arg) c.385A>C (p.Ser129Arg) c.820A>C (p.Ser274Arg) | |
8 | g.71299138G>A | CA461327872 | EYA1 | c.735C>T (p.Thr245=) c.633C>T (p.Thr211=) c.720C>T (p.Thr240=) c.*14C>T (n.*14C>T) n.1198C>T c.*502C>T (n.*502C>T) c.822C>T (p.Thr274=) c.807C>T (p.Thr269=) c.804C>T (p.Thr268=) c.717C>T (p.Thr239=) c.636C>T (p.Thr212=) c.732C>T (p.Thr244=) n.1230C>T c.369C>T (p.Thr123=) c.672C>T (p.Thr224=) c.384C>T (p.Thr128=) c.819C>T (p.Thr273=) | |
8 | g.71299138G>C | CA461327873 | EYA1 | c.735C>G (p.Thr245=) c.633C>G (p.Thr211=) c.720C>G (p.Thr240=) c.*14C>G (n.*14C>G) n.1198C>G c.*502C>G (n.*502C>G) c.822C>G (p.Thr274=) c.807C>G (p.Thr269=) c.804C>G (p.Thr268=) c.717C>G (p.Thr239=) c.636C>G (p.Thr212=) c.732C>G (p.Thr244=) n.1230C>G c.369C>G (p.Thr123=) c.672C>G (p.Thr224=) c.384C>G (p.Thr128=) c.819C>G (p.Thr273=) | gnomAD v4 |
8 | g.71299138G= | CA1792728344 | EYA1 | c.735C= (p.Thr245=) c.633C= (p.Thr211=) c.720C= (p.Thr240=) c.*14C= (n.*14C=) n.1198C= c.*502C= (n.*502C=) c.822C= (p.Thr274=) c.807C= (p.Thr269=) c.804C= (p.Thr268=) c.717C= (p.Thr239=) c.636C= (p.Thr212=) c.732C= (p.Thr244=) n.1230C= c.369C= (p.Thr123=) c.672C= (p.Thr224=) c.384C= (p.Thr128=) c.819C= (p.Thr273=) | |
8 | g.71299138G>T | CA4779677 | EYA1 | c.735C>A (p.Thr245=) c.633C>A (p.Thr211=) c.720C>A (p.Thr240=) c.*14C>A (n.*14C>A) n.1198C>A c.*502C>A (n.*502C>A) c.822C>A (p.Thr274=) c.807C>A (p.Thr269=) c.804C>A (p.Thr268=) c.717C>A (p.Thr239=) c.636C>A (p.Thr212=) c.732C>A (p.Thr244=) n.1230C>A c.369C>A (p.Thr123=) c.672C>A (p.Thr224=) c.384C>A (p.Thr128=) c.819C>A (p.Thr273=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299139G>A | CA371467259 | EYA1 | c.734C>T (p.Thr245Ile) c.632C>T (p.Thr211Ile) c.719C>T (p.Thr240Ile) c.*13C>T (n.*13C>T) n.1197C>T c.*501C>T (n.*501C>T) c.821C>T (p.Thr274Ile) c.806C>T (p.Thr269Ile) c.803C>T (p.Thr268Ile) c.716C>T (p.Thr239Ile) c.635C>T (p.Thr212Ile) c.731C>T (p.Thr244Ile) n.1229C>T c.368C>T (p.Thr123Ile) c.671C>T (p.Thr224Ile) c.383C>T (p.Thr128Ile) c.818C>T (p.Thr273Ile) | |
8 | g.71299139G>C | CA371467260 | EYA1 | c.734C>G (p.Thr245Ser) c.632C>G (p.Thr211Ser) c.719C>G (p.Thr240Ser) c.*13C>G (n.*13C>G) n.1197C>G c.*501C>G (n.*501C>G) c.821C>G (p.Thr274Ser) c.806C>G (p.Thr269Ser) c.803C>G (p.Thr268Ser) c.716C>G (p.Thr239Ser) c.635C>G (p.Thr212Ser) c.731C>G (p.Thr244Ser) n.1229C>G c.368C>G (p.Thr123Ser) c.671C>G (p.Thr224Ser) c.383C>G (p.Thr128Ser) c.818C>G (p.Thr273Ser) | |
8 | g.71299139G>T | CA371467261 | EYA1 | c.734C>A (p.Thr245Asn) c.632C>A (p.Thr211Asn) c.719C>A (p.Thr240Asn) c.*13C>A (n.*13C>A) n.1197C>A c.*501C>A (n.*501C>A) c.821C>A (p.Thr274Asn) c.806C>A (p.Thr269Asn) c.803C>A (p.Thr268Asn) c.716C>A (p.Thr239Asn) c.635C>A (p.Thr212Asn) c.731C>A (p.Thr244Asn) n.1229C>A c.368C>A (p.Thr123Asn) c.671C>A (p.Thr224Asn) c.383C>A (p.Thr128Asn) c.818C>A (p.Thr273Asn) | gnomAD v4 |
8 | g.71299140T>A | CA371467262 | EYA1 | c.733A>T (p.Thr245Ser) c.631A>T (p.Thr211Ser) c.718A>T (p.Thr240Ser) c.*12A>T (n.*12A>T) n.1196A>T c.*500A>T (n.*500A>T) c.820A>T (p.Thr274Ser) c.805A>T (p.Thr269Ser) c.802A>T (p.Thr268Ser) c.715A>T (p.Thr239Ser) c.634A>T (p.Thr212Ser) c.730A>T (p.Thr244Ser) n.1228A>T c.367A>T (p.Thr123Ser) c.670A>T (p.Thr224Ser) c.382A>T (p.Thr128Ser) c.817A>T (p.Thr273Ser) | |
8 | g.71299140T>C | CA371467263 | EYA1 | c.733A>G (p.Thr245Ala) c.631A>G (p.Thr211Ala) c.718A>G (p.Thr240Ala) c.*12A>G (n.*12A>G) n.1196A>G c.*500A>G (n.*500A>G) c.820A>G (p.Thr274Ala) c.805A>G (p.Thr269Ala) c.802A>G (p.Thr268Ala) c.715A>G (p.Thr239Ala) c.634A>G (p.Thr212Ala) c.730A>G (p.Thr244Ala) n.1228A>G c.367A>G (p.Thr123Ala) c.670A>G (p.Thr224Ala) c.382A>G (p.Thr128Ala) c.817A>G (p.Thr273Ala) | gnomAD v4 |
8 | g.71299140T>G | CA371467264 | EYA1 | c.733A>C (p.Thr245Pro) c.631A>C (p.Thr211Pro) c.718A>C (p.Thr240Pro) c.*12A>C (n.*12A>C) n.1196A>C c.*500A>C (n.*500A>C) c.820A>C (p.Thr274Pro) c.805A>C (p.Thr269Pro) c.802A>C (p.Thr268Pro) c.715A>C (p.Thr239Pro) c.634A>C (p.Thr212Pro) c.730A>C (p.Thr244Pro) n.1228A>C c.367A>C (p.Thr123Pro) c.670A>C (p.Thr224Pro) c.382A>C (p.Thr128Pro) c.817A>C (p.Thr273Pro) | dbSNP |
8 | g.71299140T= | CA1792728345 | EYA1 | c.733A= (p.Thr245=) c.631A= (p.Thr211=) c.718A= (p.Thr240=) c.*12A= (n.*12A=) n.1196A= c.*500A= (n.*500A=) c.820A= (p.Thr274=) c.805A= (p.Thr269=) c.802A= (p.Thr268=) c.715A= (p.Thr239=) c.634A= (p.Thr212=) c.730A= (p.Thr244=) n.1228A= c.367A= (p.Thr123=) c.670A= (p.Thr224=) c.382A= (p.Thr128=) c.817A= (p.Thr273=) | |
8 | g.71299141G>A | CA461327874 | EYA1 | c.732C>T (p.Asn244=) c.630C>T (p.Asn210=) c.717C>T (p.Asn239=) c.*11C>T (n.*11C>T) n.1195C>T c.*499C>T (n.*499C>T) c.819C>T (p.Asn273=) c.804C>T (p.Asn268=) c.801C>T (p.Asn267=) c.714C>T (p.Asn238=) c.633C>T (p.Asn211=) c.729C>T (p.Asn243=) n.1227C>T c.366C>T (p.Asn122=) c.669C>T (p.Asn223=) c.381C>T (p.Asn127=) c.816C>T (p.Asn272=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71299141G>C | CA371467265 | EYA1 | c.732C>G (p.Asn244Lys) c.630C>G (p.Asn210Lys) c.717C>G (p.Asn239Lys) c.*11C>G (n.*11C>G) n.1195C>G c.*499C>G (n.*499C>G) c.819C>G (p.Asn273Lys) c.804C>G (p.Asn268Lys) c.801C>G (p.Asn267Lys) c.714C>G (p.Asn238Lys) c.633C>G (p.Asn211Lys) c.729C>G (p.Asn243Lys) n.1227C>G c.366C>G (p.Asn122Lys) c.669C>G (p.Asn223Lys) c.381C>G (p.Asn127Lys) c.816C>G (p.Asn272Lys) | |
8 | g.71299141G= | CA1792728346 | EYA1 | c.732C= (p.Asn244=) c.630C= (p.Asn210=) c.717C= (p.Asn239=) c.*11C= (n.*11C=) n.1195C= c.*499C= (n.*499C=) c.819C= (p.Asn273=) c.804C= (p.Asn268=) c.801C= (p.Asn267=) c.714C= (p.Asn238=) c.633C= (p.Asn211=) c.729C= (p.Asn243=) n.1227C= c.366C= (p.Asn122=) c.669C= (p.Asn223=) c.381C= (p.Asn127=) c.816C= (p.Asn272=) | |
8 | g.71299141G>T | CA371467266 | EYA1 | c.732C>A (p.Asn244Lys) c.630C>A (p.Asn210Lys) c.717C>A (p.Asn239Lys) c.*11C>A (n.*11C>A) n.1195C>A c.*499C>A (n.*499C>A) c.819C>A (p.Asn273Lys) c.804C>A (p.Asn268Lys) c.801C>A (p.Asn267Lys) c.714C>A (p.Asn238Lys) c.633C>A (p.Asn211Lys) c.729C>A (p.Asn243Lys) n.1227C>A c.366C>A (p.Asn122Lys) c.669C>A (p.Asn223Lys) c.381C>A (p.Asn127Lys) c.816C>A (p.Asn272Lys) | |
8 | g.71299142T>A | CA371467267 | EYA1 | c.731A>T (p.Asn244Ile) c.629A>T (p.Asn210Ile) c.716A>T (p.Asn239Ile) c.*10A>T (n.*10A>T) n.1194A>T c.*498A>T (n.*498A>T) c.818A>T (p.Asn273Ile) c.803A>T (p.Asn268Ile) c.800A>T (p.Asn267Ile) c.713A>T (p.Asn238Ile) c.632A>T (p.Asn211Ile) c.728A>T (p.Asn243Ile) n.1226A>T c.365A>T (p.Asn122Ile) c.668A>T (p.Asn223Ile) c.380A>T (p.Asn127Ile) c.815A>T (p.Asn272Ile) | |
8 | g.71299142T>C | CA371467269 | EYA1 | c.731A>G (p.Asn244Ser) c.629A>G (p.Asn210Ser) c.716A>G (p.Asn239Ser) c.*10A>G (n.*10A>G) n.1194A>G c.*498A>G (n.*498A>G) c.818A>G (p.Asn273Ser) c.803A>G (p.Asn268Ser) c.800A>G (p.Asn267Ser) c.713A>G (p.Asn238Ser) c.632A>G (p.Asn211Ser) c.728A>G (p.Asn243Ser) n.1226A>G c.365A>G (p.Asn122Ser) c.668A>G (p.Asn223Ser) c.380A>G (p.Asn127Ser) c.815A>G (p.Asn272Ser) | |
8 | g.71299142T>G | CA371467268 | EYA1 | c.731A>C (p.Asn244Thr) c.629A>C (p.Asn210Thr) c.716A>C (p.Asn239Thr) c.*10A>C (n.*10A>C) n.1194A>C c.*498A>C (n.*498A>C) c.818A>C (p.Asn273Thr) c.803A>C (p.Asn268Thr) c.800A>C (p.Asn267Thr) c.713A>C (p.Asn238Thr) c.632A>C (p.Asn211Thr) c.728A>C (p.Asn243Thr) n.1226A>C c.365A>C (p.Asn122Thr) c.668A>C (p.Asn223Thr) c.380A>C (p.Asn127Thr) c.815A>C (p.Asn272Thr) | |
8 | g.71299143T>A | CA371467270 | EYA1 | c.730A>T (p.Asn244Tyr) c.628A>T (p.Asn210Tyr) c.715A>T (p.Asn239Tyr) c.*9A>T (n.*9A>T) n.1193A>T c.*497A>T (n.*497A>T) c.817A>T (p.Asn273Tyr) c.802A>T (p.Asn268Tyr) c.799A>T (p.Asn267Tyr) c.712A>T (p.Asn238Tyr) c.631A>T (p.Asn211Tyr) c.727A>T (p.Asn243Tyr) n.1225A>T c.364A>T (p.Asn122Tyr) c.667A>T (p.Asn223Tyr) c.379A>T (p.Asn127Tyr) c.814A>T (p.Asn272Tyr) | |
8 | g.71299143T>C | CA371467271 | EYA1 | c.730A>G (p.Asn244Asp) c.628A>G (p.Asn210Asp) c.715A>G (p.Asn239Asp) c.*9A>G (n.*9A>G) n.1193A>G c.*497A>G (n.*497A>G) c.817A>G (p.Asn273Asp) c.802A>G (p.Asn268Asp) c.799A>G (p.Asn267Asp) c.712A>G (p.Asn238Asp) c.631A>G (p.Asn211Asp) c.727A>G (p.Asn243Asp) n.1225A>G c.364A>G (p.Asn122Asp) c.667A>G (p.Asn223Asp) c.379A>G (p.Asn127Asp) c.814A>G (p.Asn272Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71299143T>G | CA371467272 | EYA1 | c.730A>C (p.Asn244His) c.628A>C (p.Asn210His) c.715A>C (p.Asn239His) c.*9A>C (n.*9A>C) n.1193A>C c.*497A>C (n.*497A>C) c.817A>C (p.Asn273His) c.802A>C (p.Asn268His) c.799A>C (p.Asn267His) c.712A>C (p.Asn238His) c.631A>C (p.Asn211His) c.727A>C (p.Asn243His) n.1225A>C c.364A>C (p.Asn122His) c.667A>C (p.Asn223His) c.379A>C (p.Asn127His) c.814A>C (p.Asn272His) | |
8 | g.71299143T= | CA1792728347 | EYA1 | c.730A= (p.Asn244=) c.628A= (p.Asn210=) c.715A= (p.Asn239=) c.*9A= (n.*9A=) n.1193A= c.*497A= (n.*497A=) c.817A= (p.Asn273=) c.802A= (p.Asn268=) c.799A= (p.Asn267=) c.712A= (p.Asn238=) c.631A= (p.Asn211=) c.727A= (p.Asn243=) n.1225A= c.364A= (p.Asn122=) c.667A= (p.Asn223=) c.379A= (p.Asn127=) c.814A= (p.Asn272=) | |
8 | g.71299144G>A | CA461327875 | EYA1 | c.729C>T (p.Ser243=) c.627C>T (p.Ser209=) c.714C>T (p.Ser238=) c.*8C>T (n.*8C>T) n.1192C>T c.*496C>T (n.*496C>T) c.816C>T (p.Ser272=) c.801C>T (p.Ser267=) c.798C>T (p.Ser266=) c.711C>T (p.Ser237=) c.630C>T (p.Ser210=) c.726C>T (p.Ser242=) n.1224C>T c.363C>T (p.Ser121=) c.666C>T (p.Ser222=) c.378C>T (p.Ser126=) c.813C>T (p.Ser271=) | |
8 | g.71299144G>C | CA371467273 | EYA1 | c.729C>G (p.Ser243Arg) c.627C>G (p.Ser209Arg) c.714C>G (p.Ser238Arg) c.*8C>G (n.*8C>G) n.1192C>G c.*496C>G (n.*496C>G) c.816C>G (p.Ser272Arg) c.801C>G (p.Ser267Arg) c.798C>G (p.Ser266Arg) c.711C>G (p.Ser237Arg) c.630C>G (p.Ser210Arg) c.726C>G (p.Ser242Arg) n.1224C>G c.363C>G (p.Ser121Arg) c.666C>G (p.Ser222Arg) c.378C>G (p.Ser126Arg) c.813C>G (p.Ser271Arg) | |
8 | g.71299144G>T | CA371467274 | EYA1 | c.729C>A (p.Ser243Arg) c.627C>A (p.Ser209Arg) c.714C>A (p.Ser238Arg) c.*8C>A (n.*8C>A) n.1192C>A c.*496C>A (n.*496C>A) c.816C>A (p.Ser272Arg) c.801C>A (p.Ser267Arg) c.798C>A (p.Ser266Arg) c.711C>A (p.Ser237Arg) c.630C>A (p.Ser210Arg) c.726C>A (p.Ser242Arg) n.1224C>A c.363C>A (p.Ser121Arg) c.666C>A (p.Ser222Arg) c.378C>A (p.Ser126Arg) c.813C>A (p.Ser271Arg) | |
8 | g.71299145C>A | CA4779678 | EYA1 | c.728G>T (p.Ser243Ile) c.626G>T (p.Ser209Ile) c.713G>T (p.Ser238Ile) c.*7G>T (n.*7G>T) n.1191G>T c.*495G>T (n.*495G>T) c.815G>T (p.Ser272Ile) c.800G>T (p.Ser267Ile) c.797G>T (p.Ser266Ile) c.710G>T (p.Ser237Ile) c.629G>T (p.Ser210Ile) c.725G>T (p.Ser242Ile) n.1223G>T c.362G>T (p.Ser121Ile) c.665G>T (p.Ser222Ile) c.377G>T (p.Ser126Ile) c.812G>T (p.Ser271Ile) | dbSNP ExAC gnomAD v2 |
8 | g.71299145C= | CA1792728348 | EYA1 | c.728G= (p.Ser243=) c.626G= (p.Ser209=) c.713G= (p.Ser238=) c.*7G= (n.*7G=) n.1191G= c.*495G= (n.*495G=) c.815G= (p.Ser272=) c.800G= (p.Ser267=) c.797G= (p.Ser266=) c.710G= (p.Ser237=) c.629G= (p.Ser210=) c.725G= (p.Ser242=) n.1223G= c.362G= (p.Ser121=) c.665G= (p.Ser222=) c.377G= (p.Ser126=) c.812G= (p.Ser271=) | |
8 | g.71299145C>G | CA371467275 | EYA1 | c.728G>C (p.Ser243Thr) c.626G>C (p.Ser209Thr) c.713G>C (p.Ser238Thr) c.*7G>C (n.*7G>C) n.1191G>C c.*495G>C (n.*495G>C) c.815G>C (p.Ser272Thr) c.800G>C (p.Ser267Thr) c.797G>C (p.Ser266Thr) c.710G>C (p.Ser237Thr) c.629G>C (p.Ser210Thr) c.725G>C (p.Ser242Thr) n.1223G>C c.362G>C (p.Ser121Thr) c.665G>C (p.Ser222Thr) c.377G>C (p.Ser126Thr) c.812G>C (p.Ser271Thr) | |
8 | g.71299145C>T | CA371467276 | EYA1 | c.728G>A (p.Ser243Asn) c.626G>A (p.Ser209Asn) c.713G>A (p.Ser238Asn) c.*7G>A (n.*7G>A) n.1191G>A c.*495G>A (n.*495G>A) c.815G>A (p.Ser272Asn) c.800G>A (p.Ser267Asn) c.797G>A (p.Ser266Asn) c.710G>A (p.Ser237Asn) c.629G>A (p.Ser210Asn) c.725G>A (p.Ser242Asn) n.1223G>A c.362G>A (p.Ser121Asn) c.665G>A (p.Ser222Asn) c.377G>A (p.Ser126Asn) c.812G>A (p.Ser271Asn) | gnomAD v4 |
8 | g.71299146T>A | CA371467277 | EYA1 | c.727A>T (p.Ser243Cys) c.625A>T (p.Ser209Cys) c.712A>T (p.Ser238Cys) c.*6A>T (n.*6A>T) n.1190A>T c.*494A>T (n.*494A>T) c.814A>T (p.Ser272Cys) c.799A>T (p.Ser267Cys) c.796A>T (p.Ser266Cys) c.709A>T (p.Ser237Cys) c.628A>T (p.Ser210Cys) c.724A>T (p.Ser242Cys) n.1222A>T c.361A>T (p.Ser121Cys) c.664A>T (p.Ser222Cys) c.376A>T (p.Ser126Cys) c.811A>T (p.Ser271Cys) | |
8 | g.71299146T>C | CA371467279 | EYA1 | c.727A>G (p.Ser243Gly) c.625A>G (p.Ser209Gly) c.712A>G (p.Ser238Gly) c.*6A>G (n.*6A>G) n.1190A>G c.*494A>G (n.*494A>G) c.814A>G (p.Ser272Gly) c.799A>G (p.Ser267Gly) c.796A>G (p.Ser266Gly) c.709A>G (p.Ser237Gly) c.628A>G (p.Ser210Gly) c.724A>G (p.Ser242Gly) n.1222A>G c.361A>G (p.Ser121Gly) c.664A>G (p.Ser222Gly) c.376A>G (p.Ser126Gly) c.811A>G (p.Ser271Gly) | |
8 | g.71299146T>G | CA371467278 | EYA1 | c.727A>C (p.Ser243Arg) c.625A>C (p.Ser209Arg) c.712A>C (p.Ser238Arg) c.*6A>C (n.*6A>C) n.1190A>C c.*494A>C (n.*494A>C) c.814A>C (p.Ser272Arg) c.799A>C (p.Ser267Arg) c.796A>C (p.Ser266Arg) c.709A>C (p.Ser237Arg) c.628A>C (p.Ser210Arg) c.724A>C (p.Ser242Arg) n.1222A>C c.361A>C (p.Ser121Arg) c.664A>C (p.Ser222Arg) c.376A>C (p.Ser126Arg) c.811A>C (p.Ser271Arg) | |
8 | g.71299147G>A | CA461327876 | EYA1 | c.726C>T (p.Ser242=) c.624C>T (p.Ser208=) c.711C>T (p.Ser237=) c.*5C>T (n.*5C>T) n.1189C>T c.*493C>T (n.*493C>T) c.813C>T (p.Ser271=) c.798C>T (p.Ser266=) c.795C>T (p.Ser265=) c.708C>T (p.Ser236=) c.627C>T (p.Ser209=) c.723C>T (p.Ser241=) n.1221C>T c.360C>T (p.Ser120=) c.663C>T (p.Ser221=) c.375C>T (p.Ser125=) c.810C>T (p.Ser270=) | |
8 | g.71299147G>C | CA371467280 | EYA1 | c.726C>G (p.Ser242Arg) c.624C>G (p.Ser208Arg) c.711C>G (p.Ser237Arg) c.*5C>G (n.*5C>G) n.1189C>G c.*493C>G (n.*493C>G) c.813C>G (p.Ser271Arg) c.798C>G (p.Ser266Arg) c.795C>G (p.Ser265Arg) c.708C>G (p.Ser236Arg) c.627C>G (p.Ser209Arg) c.723C>G (p.Ser241Arg) n.1221C>G c.360C>G (p.Ser120Arg) c.663C>G (p.Ser221Arg) c.375C>G (p.Ser125Arg) c.810C>G (p.Ser270Arg) | gnomAD v4 |
8 | g.71299147G>T | CA371467281 | EYA1 | c.726C>A (p.Ser242Arg) c.624C>A (p.Ser208Arg) c.711C>A (p.Ser237Arg) c.*5C>A (n.*5C>A) n.1189C>A c.*493C>A (n.*493C>A) c.813C>A (p.Ser271Arg) c.798C>A (p.Ser266Arg) c.795C>A (p.Ser265Arg) c.708C>A (p.Ser236Arg) c.627C>A (p.Ser209Arg) c.723C>A (p.Ser241Arg) n.1221C>A c.360C>A (p.Ser120Arg) c.663C>A (p.Ser221Arg) c.375C>A (p.Ser125Arg) c.810C>A (p.Ser270Arg) | |
8 | g.71299148C>A | CA371467282 | EYA1 | c.725G>T (p.Ser242Ile) c.623G>T (p.Ser208Ile) c.710G>T (p.Ser237Ile) c.*4G>T (n.*4G>T) n.1188G>T c.*492G>T (n.*492G>T) c.812G>T (p.Ser271Ile) c.797G>T (p.Ser266Ile) c.794G>T (p.Ser265Ile) c.707G>T (p.Ser236Ile) c.626G>T (p.Ser209Ile) c.722G>T (p.Ser241Ile) n.1220G>T c.359G>T (p.Ser120Ile) c.662G>T (p.Ser221Ile) c.374G>T (p.Ser125Ile) c.809G>T (p.Ser270Ile) | |
8 | g.71299148C>G | CA371467283 | EYA1 | c.725G>C (p.Ser242Thr) c.623G>C (p.Ser208Thr) c.710G>C (p.Ser237Thr) c.*4G>C (n.*4G>C) n.1188G>C c.*492G>C (n.*492G>C) c.812G>C (p.Ser271Thr) c.797G>C (p.Ser266Thr) c.794G>C (p.Ser265Thr) c.707G>C (p.Ser236Thr) c.626G>C (p.Ser209Thr) c.722G>C (p.Ser241Thr) n.1220G>C c.359G>C (p.Ser120Thr) c.662G>C (p.Ser221Thr) c.374G>C (p.Ser125Thr) c.809G>C (p.Ser270Thr) | |
8 | g.71299148C>T | CA371467284 | EYA1 | c.725G>A (p.Ser242Asn) c.623G>A (p.Ser208Asn) c.710G>A (p.Ser237Asn) c.*4G>A (n.*4G>A) n.1188G>A c.*492G>A (n.*492G>A) c.812G>A (p.Ser271Asn) c.797G>A (p.Ser266Asn) c.794G>A (p.Ser265Asn) c.707G>A (p.Ser236Asn) c.626G>A (p.Ser209Asn) c.722G>A (p.Ser241Asn) n.1220G>A c.359G>A (p.Ser120Asn) c.662G>A (p.Ser221Asn) c.374G>A (p.Ser125Asn) c.809G>A (p.Ser270Asn) | gnomAD v4 COSMIC |
8 | g.71299149T>A | CA371467285 | EYA1 | c.724A>T (p.Ser242Cys) c.622A>T (p.Ser208Cys) c.709A>T (p.Ser237Cys) c.*3A>T (n.*3A>T) n.1187A>T c.*491A>T (n.*491A>T) c.811A>T (p.Ser271Cys) c.796A>T (p.Ser266Cys) c.793A>T (p.Ser265Cys) c.706A>T (p.Ser236Cys) c.625A>T (p.Ser209Cys) c.721A>T (p.Ser241Cys) n.1219A>T c.358A>T (p.Ser120Cys) c.661A>T (p.Ser221Cys) c.373A>T (p.Ser125Cys) c.808A>T (p.Ser270Cys) | |
8 | g.71299149T>C | CA4779679 | EYA1 | c.724A>G (p.Ser242Gly) c.622A>G (p.Ser208Gly) c.709A>G (p.Ser237Gly) c.*3A>G (n.*3A>G) n.1187A>G c.*491A>G (n.*491A>G) c.811A>G (p.Ser271Gly) c.796A>G (p.Ser266Gly) c.793A>G (p.Ser265Gly) c.706A>G (p.Ser236Gly) c.625A>G (p.Ser209Gly) c.721A>G (p.Ser241Gly) n.1219A>G c.358A>G (p.Ser120Gly) c.661A>G (p.Ser221Gly) c.373A>G (p.Ser125Gly) c.808A>G (p.Ser270Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71299149T>G | CA371467286 | EYA1 | c.724A>C (p.Ser242Arg) c.622A>C (p.Ser208Arg) c.709A>C (p.Ser237Arg) c.*3A>C (n.*3A>C) n.1187A>C c.*491A>C (n.*491A>C) c.811A>C (p.Ser271Arg) c.796A>C (p.Ser266Arg) c.793A>C (p.Ser265Arg) c.706A>C (p.Ser236Arg) c.625A>C (p.Ser209Arg) c.721A>C (p.Ser241Arg) n.1219A>C c.358A>C (p.Ser120Arg) c.661A>C (p.Ser221Arg) c.373A>C (p.Ser125Arg) c.808A>C (p.Ser270Arg) | |
8 | g.71299149T= | CA1792728349 | EYA1 | c.724A= (p.Ser242=) c.622A= (p.Ser208=) c.709A= (p.Ser237=) c.*3A= (n.*3A=) n.1187A= c.*491A= (n.*491A=) c.811A= (p.Ser271=) c.796A= (p.Ser266=) c.793A= (p.Ser265=) c.706A= (p.Ser236=) c.625A= (p.Ser209=) c.721A= (p.Ser241=) n.1219A= c.358A= (p.Ser120=) c.661A= (p.Ser221=) c.373A= (p.Ser125=) c.808A= (p.Ser270=) |