Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.152122568_152122570del | CA2680809429 | ESR1,SYNE1 | c.2796_2798del (p.Leu933del) c.26262_26264del (p.Leu8755del) c.26118_26120del (p.Leu8707del) c.1605_1607del c.1980_1982del c.1847_1849del c.2112_2114del (n.2112_2114del) c.25047_25049del (p.Leu8350del) n.3010_3012del c.5038_5040del (n.5038_5040del) n.9954_9956del c.4141_4143del (n.4141_4143del) n.9846_9848del c.851-2698_851-2696del (n.851-2698_851-2696del) n.2876_2878del n.6899_6901del c.2727_2729del (p.Leu910del) c.26409_26411del (p.Leu8804del) c.26397_26399del (p.Leu8800del) c.26388_26390del (p.Leu8797del) c.26367_26369del (p.Leu8790del) c.26358_26360del (p.Leu8787del) c.26352_26354del (p.Leu8785del) c.26340_26342del (p.Leu8781del) c.26337_26339del (p.Leu8780del) c.26298_26300del (p.Leu8767del) c.26283_26285del (p.Leu8762del) c.26268_26270del (p.Leu8757del) c.26256_26258del (p.Leu8753del) c.26253_26255del (p.Leu8752del) c.26250_26252del (p.Leu8751del) c.*73_*75del (n.*73_*75del) c.26406_26408del (p.Leu8803del) c.26394_26396del (p.Leu8799del) c.26244_26246del (p.Leu8749del) c.24684_24686del (p.Leu8229del) c.24177_24179del (p.Leu8060del) c.19644_19646del (p.Leu6549del) c.26382_26384del (p.Leu8795del) c.26331_26333del (p.Leu8778del) c.26295_26297del (p.Leu8766del) c.26142_26144del (p.Leu8715del) | gnomAD v4 |
6 | g.152122569A>C | CA366088918 | ESR1,SYNE1 | c.2795T>G (p.Leu932Arg) c.26261T>G (p.Leu8754Arg) c.26117T>G (p.Leu8706Arg) c.1604T>G c.1979T>G c.1846T>G c.2111T>G (n.2111T>G) c.25046T>G (p.Leu8349Arg) n.3009T>G c.5037T>G (n.5037T>G) n.9953T>G c.4140T>G (n.4140T>G) n.9845T>G c.851-2697A>C (n.851-2697A>C) n.2875T>G n.6898T>G c.2726T>G (p.Leu909Arg) c.26408T>G (p.Leu8803Arg) c.26396T>G (p.Leu8799Arg) c.26387T>G (p.Leu8796Arg) c.26366T>G (p.Leu8789Arg) c.26357T>G (p.Leu8786Arg) c.26351T>G (p.Leu8784Arg) c.26339T>G (p.Leu8780Arg) c.26336T>G (p.Leu8779Arg) c.26297T>G (p.Leu8766Arg) c.26282T>G (p.Leu8761Arg) c.26267T>G (p.Leu8756Arg) c.26255T>G (p.Leu8752Arg) c.26252T>G (p.Leu8751Arg) c.26249T>G (p.Leu8750Arg) c.*72T>G (n.*72T>G) c.26405T>G (p.Leu8802Arg) c.26393T>G (p.Leu8798Arg) c.26243T>G (p.Leu8748Arg) c.24683T>G (p.Leu8228Arg) c.24176T>G (p.Leu8059Arg) c.19643T>G (p.Leu6548Arg) c.26381T>G (p.Leu8794Arg) c.26330T>G (p.Leu8777Arg) c.26294T>G (p.Leu8765Arg) c.26141T>G (p.Leu8714Arg) | |
6 | g.152122569A>G | CA366088920 | ESR1,SYNE1 | c.2795T>C (p.Leu932Pro) c.26261T>C (p.Leu8754Pro) c.26117T>C (p.Leu8706Pro) c.1604T>C c.1979T>C c.1846T>C c.2111T>C (n.2111T>C) c.25046T>C (p.Leu8349Pro) n.3009T>C c.5037T>C (n.5037T>C) n.9953T>C c.4140T>C (n.4140T>C) n.9845T>C c.851-2697A>G (n.851-2697A>G) n.2875T>C n.6898T>C c.2726T>C (p.Leu909Pro) c.26408T>C (p.Leu8803Pro) c.26396T>C (p.Leu8799Pro) c.26387T>C (p.Leu8796Pro) c.26366T>C (p.Leu8789Pro) c.26357T>C (p.Leu8786Pro) c.26351T>C (p.Leu8784Pro) c.26339T>C (p.Leu8780Pro) c.26336T>C (p.Leu8779Pro) c.26297T>C (p.Leu8766Pro) c.26282T>C (p.Leu8761Pro) c.26267T>C (p.Leu8756Pro) c.26255T>C (p.Leu8752Pro) c.26252T>C (p.Leu8751Pro) c.26249T>C (p.Leu8750Pro) c.*72T>C (n.*72T>C) c.26405T>C (p.Leu8802Pro) c.26393T>C (p.Leu8798Pro) c.26243T>C (p.Leu8748Pro) c.24683T>C (p.Leu8228Pro) c.24176T>C (p.Leu8059Pro) c.19643T>C (p.Leu6548Pro) c.26381T>C (p.Leu8794Pro) c.26330T>C (p.Leu8777Pro) c.26294T>C (p.Leu8765Pro) c.26141T>C (p.Leu8714Pro) | |
6 | g.152122569A>T | CA366088921 | ESR1,SYNE1 | c.2795T>A (p.Leu932His) c.26261T>A (p.Leu8754His) c.26117T>A (p.Leu8706His) c.1604T>A c.1979T>A c.1846T>A c.2111T>A (n.2111T>A) c.25046T>A (p.Leu8349His) n.3009T>A c.5037T>A (n.5037T>A) n.9953T>A c.4140T>A (n.4140T>A) n.9845T>A c.851-2697A>T (n.851-2697A>T) n.2875T>A n.6898T>A c.2726T>A (p.Leu909His) c.26408T>A (p.Leu8803His) c.26396T>A (p.Leu8799His) c.26387T>A (p.Leu8796His) c.26366T>A (p.Leu8789His) c.26357T>A (p.Leu8786His) c.26351T>A (p.Leu8784His) c.26339T>A (p.Leu8780His) c.26336T>A (p.Leu8779His) c.26297T>A (p.Leu8766His) c.26282T>A (p.Leu8761His) c.26267T>A (p.Leu8756His) c.26255T>A (p.Leu8752His) c.26252T>A (p.Leu8751His) c.26249T>A (p.Leu8750His) c.*72T>A (n.*72T>A) c.26405T>A (p.Leu8802His) c.26393T>A (p.Leu8798His) c.26243T>A (p.Leu8748His) c.24683T>A (p.Leu8228His) c.24176T>A (p.Leu8059His) c.19643T>A (p.Leu6548His) c.26381T>A (p.Leu8794His) c.26330T>A (p.Leu8777His) c.26294T>A (p.Leu8765His) c.26141T>A (p.Leu8714His) | |
6 | g.152122570G>A | CA366088923 | ESR1,SYNE1 | c.2794C>T (p.Leu932Phe) c.26260C>T (p.Leu8754Phe) c.26116C>T (p.Leu8706Phe) c.1603C>T c.1978C>T c.1845C>T c.2110C>T (n.2110C>T) c.25045C>T (p.Leu8349Phe) n.3008C>T c.5036C>T (n.5036C>T) n.9952C>T c.4139C>T (n.4139C>T) n.9844C>T c.851-2696G>A (n.851-2696G>A) n.2874C>T n.6897C>T c.2725C>T (p.Leu909Phe) c.26407C>T (p.Leu8803Phe) c.26395C>T (p.Leu8799Phe) c.26386C>T (p.Leu8796Phe) c.26365C>T (p.Leu8789Phe) c.26356C>T (p.Leu8786Phe) c.26350C>T (p.Leu8784Phe) c.26338C>T (p.Leu8780Phe) c.26335C>T (p.Leu8779Phe) c.26296C>T (p.Leu8766Phe) c.26281C>T (p.Leu8761Phe) c.26266C>T (p.Leu8756Phe) c.26254C>T (p.Leu8752Phe) c.26251C>T (p.Leu8751Phe) c.26248C>T (p.Leu8750Phe) c.*71C>T (n.*71C>T) c.26404C>T (p.Leu8802Phe) c.26392C>T (p.Leu8798Phe) c.26242C>T (p.Leu8748Phe) c.24682C>T (p.Leu8228Phe) c.24175C>T (p.Leu8059Phe) c.19642C>T (p.Leu6548Phe) c.26380C>T (p.Leu8794Phe) c.26329C>T (p.Leu8777Phe) c.26293C>T (p.Leu8765Phe) c.26140C>T (p.Leu8714Phe) | |
6 | g.152122570G>C | CA366088925 | ESR1,SYNE1 | c.2794C>G (p.Leu932Val) c.26260C>G (p.Leu8754Val) c.26116C>G (p.Leu8706Val) c.1603C>G c.1978C>G c.1845C>G c.2110C>G (n.2110C>G) c.25045C>G (p.Leu8349Val) n.3008C>G c.5036C>G (n.5036C>G) n.9952C>G c.4139C>G (n.4139C>G) n.9844C>G c.851-2696G>C (n.851-2696G>C) n.2874C>G n.6897C>G c.2725C>G (p.Leu909Val) c.26407C>G (p.Leu8803Val) c.26395C>G (p.Leu8799Val) c.26386C>G (p.Leu8796Val) c.26365C>G (p.Leu8789Val) c.26356C>G (p.Leu8786Val) c.26350C>G (p.Leu8784Val) c.26338C>G (p.Leu8780Val) c.26335C>G (p.Leu8779Val) c.26296C>G (p.Leu8766Val) c.26281C>G (p.Leu8761Val) c.26266C>G (p.Leu8756Val) c.26254C>G (p.Leu8752Val) c.26251C>G (p.Leu8751Val) c.26248C>G (p.Leu8750Val) c.*71C>G (n.*71C>G) c.26404C>G (p.Leu8802Val) c.26392C>G (p.Leu8798Val) c.26242C>G (p.Leu8748Val) c.24682C>G (p.Leu8228Val) c.24175C>G (p.Leu8059Val) c.19642C>G (p.Leu6548Val) c.26380C>G (p.Leu8794Val) c.26329C>G (p.Leu8777Val) c.26293C>G (p.Leu8765Val) c.26140C>G (p.Leu8714Val) | |
6 | g.152122570G>T | CA366088927 | ESR1,SYNE1 | c.2794C>A (p.Leu932Ile) c.26260C>A (p.Leu8754Ile) c.26116C>A (p.Leu8706Ile) c.1603C>A c.1978C>A c.1845C>A c.2110C>A (n.2110C>A) c.25045C>A (p.Leu8349Ile) n.3008C>A c.5036C>A (n.5036C>A) n.9952C>A c.4139C>A (n.4139C>A) n.9844C>A c.851-2696G>T (n.851-2696G>T) n.2874C>A n.6897C>A c.2725C>A (p.Leu909Ile) c.26407C>A (p.Leu8803Ile) c.26395C>A (p.Leu8799Ile) c.26386C>A (p.Leu8796Ile) c.26365C>A (p.Leu8789Ile) c.26356C>A (p.Leu8786Ile) c.26350C>A (p.Leu8784Ile) c.26338C>A (p.Leu8780Ile) c.26335C>A (p.Leu8779Ile) c.26296C>A (p.Leu8766Ile) c.26281C>A (p.Leu8761Ile) c.26266C>A (p.Leu8756Ile) c.26254C>A (p.Leu8752Ile) c.26251C>A (p.Leu8751Ile) c.26248C>A (p.Leu8750Ile) c.*71C>A (n.*71C>A) c.26404C>A (p.Leu8802Ile) c.26392C>A (p.Leu8798Ile) c.26242C>A (p.Leu8748Ile) c.24682C>A (p.Leu8228Ile) c.24175C>A (p.Leu8059Ile) c.19642C>A (p.Leu6548Ile) c.26380C>A (p.Leu8794Ile) c.26329C>A (p.Leu8777Ile) c.26293C>A (p.Leu8765Ile) c.26140C>A (p.Leu8714Ile) | |
6 | g.152122571A>C | CA452969722 | ESR1,SYNE1 | c.2793T>G (p.Leu931=) c.26259T>G (p.Leu8753=) c.26115T>G (p.Leu8705=) c.1602T>G c.1977T>G c.1844T>G c.2109T>G (n.2109T>G) c.25044T>G (p.Leu8348=) n.3007T>G c.5035T>G (n.5035T>G) n.9951T>G c.4138T>G (n.4138T>G) n.9843T>G c.851-2695A>C (n.851-2695A>C) n.2873T>G n.6896T>G c.2724T>G (p.Leu908=) c.26406T>G (p.Leu8802=) c.26394T>G (p.Leu8798=) c.26385T>G (p.Leu8795=) c.26364T>G (p.Leu8788=) c.26355T>G (p.Leu8785=) c.26349T>G (p.Leu8783=) c.26337T>G (p.Leu8779=) c.26334T>G (p.Leu8778=) c.26295T>G (p.Leu8765=) c.26280T>G (p.Leu8760=) c.26265T>G (p.Leu8755=) c.26253T>G (p.Leu8751=) c.26250T>G (p.Leu8750=) c.26247T>G (p.Leu8749=) c.*70T>G (n.*70T>G) c.26403T>G (p.Leu8801=) c.26391T>G (p.Leu8797=) c.26241T>G (p.Leu8747=) c.24681T>G (p.Leu8227=) c.24174T>G (p.Leu8058=) c.19641T>G (p.Leu6547=) c.26379T>G (p.Leu8793=) c.26328T>G (p.Leu8776=) c.26292T>G (p.Leu8764=) c.26139T>G (p.Leu8713=) | |
6 | g.152122571A>G | CA452969724 | ESR1,SYNE1 | c.2793T>C (p.Leu931=) c.26259T>C (p.Leu8753=) c.26115T>C (p.Leu8705=) c.1602T>C c.1977T>C c.1844T>C c.2109T>C (n.2109T>C) c.25044T>C (p.Leu8348=) n.3007T>C c.5035T>C (n.5035T>C) n.9951T>C c.4138T>C (n.4138T>C) n.9843T>C c.851-2695A>G (n.851-2695A>G) n.2873T>C n.6896T>C c.2724T>C (p.Leu908=) c.26406T>C (p.Leu8802=) c.26394T>C (p.Leu8798=) c.26385T>C (p.Leu8795=) c.26364T>C (p.Leu8788=) c.26355T>C (p.Leu8785=) c.26349T>C (p.Leu8783=) c.26337T>C (p.Leu8779=) c.26334T>C (p.Leu8778=) c.26295T>C (p.Leu8765=) c.26280T>C (p.Leu8760=) c.26265T>C (p.Leu8755=) c.26253T>C (p.Leu8751=) c.26250T>C (p.Leu8750=) c.26247T>C (p.Leu8749=) c.*70T>C (n.*70T>C) c.26403T>C (p.Leu8801=) c.26391T>C (p.Leu8797=) c.26241T>C (p.Leu8747=) c.24681T>C (p.Leu8227=) c.24174T>C (p.Leu8058=) c.19641T>C (p.Leu6547=) c.26379T>C (p.Leu8793=) c.26328T>C (p.Leu8776=) c.26292T>C (p.Leu8764=) c.26139T>C (p.Leu8713=) | |
6 | g.152122571A>T | CA452969723 | ESR1,SYNE1 | c.2793T>A (p.Leu931=) c.26259T>A (p.Leu8753=) c.26115T>A (p.Leu8705=) c.1602T>A c.1977T>A c.1844T>A c.2109T>A (n.2109T>A) c.25044T>A (p.Leu8348=) n.3007T>A c.5035T>A (n.5035T>A) n.9951T>A c.4138T>A (n.4138T>A) n.9843T>A c.851-2695A>T (n.851-2695A>T) n.2873T>A n.6896T>A c.2724T>A (p.Leu908=) c.26406T>A (p.Leu8802=) c.26394T>A (p.Leu8798=) c.26385T>A (p.Leu8795=) c.26364T>A (p.Leu8788=) c.26355T>A (p.Leu8785=) c.26349T>A (p.Leu8783=) c.26337T>A (p.Leu8779=) c.26334T>A (p.Leu8778=) c.26295T>A (p.Leu8765=) c.26280T>A (p.Leu8760=) c.26265T>A (p.Leu8755=) c.26253T>A (p.Leu8751=) c.26250T>A (p.Leu8750=) c.26247T>A (p.Leu8749=) c.*70T>A (n.*70T>A) c.26403T>A (p.Leu8801=) c.26391T>A (p.Leu8797=) c.26241T>A (p.Leu8747=) c.24681T>A (p.Leu8227=) c.24174T>A (p.Leu8058=) c.19641T>A (p.Leu6547=) c.26379T>A (p.Leu8793=) c.26328T>A (p.Leu8776=) c.26292T>A (p.Leu8764=) c.26139T>A (p.Leu8713=) | |
6 | g.152122572A>C | CA366088929 | ESR1,SYNE1 | c.2792T>G (p.Leu931Arg) c.26258T>G (p.Leu8753Arg) c.26114T>G (p.Leu8705Arg) c.1601T>G c.1976T>G c.1843T>G c.2108T>G (n.2108T>G) c.25043T>G (p.Leu8348Arg) n.3006T>G c.5034T>G (n.5034T>G) n.9950T>G c.4137T>G (n.4137T>G) n.9842T>G c.851-2694A>C (n.851-2694A>C) n.2872T>G n.6895T>G c.2723T>G (p.Leu908Arg) c.26405T>G (p.Leu8802Arg) c.26393T>G (p.Leu8798Arg) c.26384T>G (p.Leu8795Arg) c.26363T>G (p.Leu8788Arg) c.26354T>G (p.Leu8785Arg) c.26348T>G (p.Leu8783Arg) c.26336T>G (p.Leu8779Arg) c.26333T>G (p.Leu8778Arg) c.26294T>G (p.Leu8765Arg) c.26279T>G (p.Leu8760Arg) c.26264T>G (p.Leu8755Arg) c.26252T>G (p.Leu8751Arg) c.26249T>G (p.Leu8750Arg) c.26246T>G (p.Leu8749Arg) c.*69T>G (n.*69T>G) c.26402T>G (p.Leu8801Arg) c.26390T>G (p.Leu8797Arg) c.26240T>G (p.Leu8747Arg) c.24680T>G (p.Leu8227Arg) c.24173T>G (p.Leu8058Arg) c.19640T>G (p.Leu6547Arg) c.26378T>G (p.Leu8793Arg) c.26327T>G (p.Leu8776Arg) c.26291T>G (p.Leu8764Arg) c.26138T>G (p.Leu8713Arg) | |
6 | g.152122572A>G | CA366088931 | ESR1,SYNE1 | c.2792T>C (p.Leu931Pro) c.26258T>C (p.Leu8753Pro) c.26114T>C (p.Leu8705Pro) c.1601T>C c.1976T>C c.1843T>C c.2108T>C (n.2108T>C) c.25043T>C (p.Leu8348Pro) n.3006T>C c.5034T>C (n.5034T>C) n.9950T>C c.4137T>C (n.4137T>C) n.9842T>C c.851-2694A>G (n.851-2694A>G) n.2872T>C n.6895T>C c.2723T>C (p.Leu908Pro) c.26405T>C (p.Leu8802Pro) c.26393T>C (p.Leu8798Pro) c.26384T>C (p.Leu8795Pro) c.26363T>C (p.Leu8788Pro) c.26354T>C (p.Leu8785Pro) c.26348T>C (p.Leu8783Pro) c.26336T>C (p.Leu8779Pro) c.26333T>C (p.Leu8778Pro) c.26294T>C (p.Leu8765Pro) c.26279T>C (p.Leu8760Pro) c.26264T>C (p.Leu8755Pro) c.26252T>C (p.Leu8751Pro) c.26249T>C (p.Leu8750Pro) c.26246T>C (p.Leu8749Pro) c.*69T>C (n.*69T>C) c.26402T>C (p.Leu8801Pro) c.26390T>C (p.Leu8797Pro) c.26240T>C (p.Leu8747Pro) c.24680T>C (p.Leu8227Pro) c.24173T>C (p.Leu8058Pro) c.19640T>C (p.Leu6547Pro) c.26378T>C (p.Leu8793Pro) c.26327T>C (p.Leu8776Pro) c.26291T>C (p.Leu8764Pro) c.26138T>C (p.Leu8713Pro) | |
6 | g.152122572A>T | CA366088933 | ESR1,SYNE1 | c.2792T>A (p.Leu931His) c.26258T>A (p.Leu8753His) c.26114T>A (p.Leu8705His) c.1601T>A c.1976T>A c.1843T>A c.2108T>A (n.2108T>A) c.25043T>A (p.Leu8348His) n.3006T>A c.5034T>A (n.5034T>A) n.9950T>A c.4137T>A (n.4137T>A) n.9842T>A c.851-2694A>T (n.851-2694A>T) n.2872T>A n.6895T>A c.2723T>A (p.Leu908His) c.26405T>A (p.Leu8802His) c.26393T>A (p.Leu8798His) c.26384T>A (p.Leu8795His) c.26363T>A (p.Leu8788His) c.26354T>A (p.Leu8785His) c.26348T>A (p.Leu8783His) c.26336T>A (p.Leu8779His) c.26333T>A (p.Leu8778His) c.26294T>A (p.Leu8765His) c.26279T>A (p.Leu8760His) c.26264T>A (p.Leu8755His) c.26252T>A (p.Leu8751His) c.26249T>A (p.Leu8750His) c.26246T>A (p.Leu8749His) c.*69T>A (n.*69T>A) c.26402T>A (p.Leu8801His) c.26390T>A (p.Leu8797His) c.26240T>A (p.Leu8747His) c.24680T>A (p.Leu8227His) c.24173T>A (p.Leu8058His) c.19640T>A (p.Leu6547His) c.26378T>A (p.Leu8793His) c.26327T>A (p.Leu8776His) c.26291T>A (p.Leu8764His) c.26138T>A (p.Leu8713His) | |
6 | g.152122573G>A | CA366088935 | ESR1,SYNE1 | c.2791C>T (p.Leu931Phe) c.26257C>T (p.Leu8753Phe) c.26113C>T (p.Leu8705Phe) c.1600C>T c.1975C>T c.1842C>T c.2107C>T (n.2107C>T) c.25042C>T (p.Leu8348Phe) n.3005C>T c.5033C>T (n.5033C>T) n.9949C>T c.4136C>T (n.4136C>T) n.9841C>T c.851-2693G>A (n.851-2693G>A) n.2871C>T n.6894C>T c.2722C>T (p.Leu908Phe) c.26404C>T (p.Leu8802Phe) c.26392C>T (p.Leu8798Phe) c.26383C>T (p.Leu8795Phe) c.26362C>T (p.Leu8788Phe) c.26353C>T (p.Leu8785Phe) c.26347C>T (p.Leu8783Phe) c.26335C>T (p.Leu8779Phe) c.26332C>T (p.Leu8778Phe) c.26293C>T (p.Leu8765Phe) c.26278C>T (p.Leu8760Phe) c.26263C>T (p.Leu8755Phe) c.26251C>T (p.Leu8751Phe) c.26248C>T (p.Leu8750Phe) c.26245C>T (p.Leu8749Phe) c.*68C>T (n.*68C>T) c.26401C>T (p.Leu8801Phe) c.26389C>T (p.Leu8797Phe) c.26239C>T (p.Leu8747Phe) c.24679C>T (p.Leu8227Phe) c.24172C>T (p.Leu8058Phe) c.19639C>T (p.Leu6547Phe) c.26377C>T (p.Leu8793Phe) c.26326C>T (p.Leu8776Phe) c.26290C>T (p.Leu8764Phe) c.26137C>T (p.Leu8713Phe) | |
6 | g.152122573G>C | CA366088937 | ESR1,SYNE1 | c.2791C>G (p.Leu931Val) c.26257C>G (p.Leu8753Val) c.26113C>G (p.Leu8705Val) c.1600C>G c.1975C>G c.1842C>G c.2107C>G (n.2107C>G) c.25042C>G (p.Leu8348Val) n.3005C>G c.5033C>G (n.5033C>G) n.9949C>G c.4136C>G (n.4136C>G) n.9841C>G c.851-2693G>C (n.851-2693G>C) n.2871C>G n.6894C>G c.2722C>G (p.Leu908Val) c.26404C>G (p.Leu8802Val) c.26392C>G (p.Leu8798Val) c.26383C>G (p.Leu8795Val) c.26362C>G (p.Leu8788Val) c.26353C>G (p.Leu8785Val) c.26347C>G (p.Leu8783Val) c.26335C>G (p.Leu8779Val) c.26332C>G (p.Leu8778Val) c.26293C>G (p.Leu8765Val) c.26278C>G (p.Leu8760Val) c.26263C>G (p.Leu8755Val) c.26251C>G (p.Leu8751Val) c.26248C>G (p.Leu8750Val) c.26245C>G (p.Leu8749Val) c.*68C>G (n.*68C>G) c.26401C>G (p.Leu8801Val) c.26389C>G (p.Leu8797Val) c.26239C>G (p.Leu8747Val) c.24679C>G (p.Leu8227Val) c.24172C>G (p.Leu8058Val) c.19639C>G (p.Leu6547Val) c.26377C>G (p.Leu8793Val) c.26326C>G (p.Leu8776Val) c.26290C>G (p.Leu8764Val) c.26137C>G (p.Leu8713Val) | |
6 | g.152122573G>T | CA366088939 | ESR1,SYNE1 | c.2791C>A (p.Leu931Ile) c.26257C>A (p.Leu8753Ile) c.26113C>A (p.Leu8705Ile) c.1600C>A c.1975C>A c.1842C>A c.2107C>A (n.2107C>A) c.25042C>A (p.Leu8348Ile) n.3005C>A c.5033C>A (n.5033C>A) n.9949C>A c.4136C>A (n.4136C>A) n.9841C>A c.851-2693G>T (n.851-2693G>T) n.2871C>A n.6894C>A c.2722C>A (p.Leu908Ile) c.26404C>A (p.Leu8802Ile) c.26392C>A (p.Leu8798Ile) c.26383C>A (p.Leu8795Ile) c.26362C>A (p.Leu8788Ile) c.26353C>A (p.Leu8785Ile) c.26347C>A (p.Leu8783Ile) c.26335C>A (p.Leu8779Ile) c.26332C>A (p.Leu8778Ile) c.26293C>A (p.Leu8765Ile) c.26278C>A (p.Leu8760Ile) c.26263C>A (p.Leu8755Ile) c.26251C>A (p.Leu8751Ile) c.26248C>A (p.Leu8750Ile) c.26245C>A (p.Leu8749Ile) c.*68C>A (n.*68C>A) c.26401C>A (p.Leu8801Ile) c.26389C>A (p.Leu8797Ile) c.26239C>A (p.Leu8747Ile) c.24679C>A (p.Leu8227Ile) c.24172C>A (p.Leu8058Ile) c.19639C>A (p.Leu6547Ile) c.26377C>A (p.Leu8793Ile) c.26326C>A (p.Leu8776Ile) c.26290C>A (p.Leu8764Ile) c.26137C>A (p.Leu8713Ile) | |
6 | g.152122574C>A | CA366088941 | ESR1,SYNE1 | c.2790G>T (p.Gln930His) c.26256G>T (p.Gln8752His) c.26112G>T (p.Gln8704His) c.1599G>T c.1974G>T c.1841G>T c.2106G>T (n.2106G>T) c.25041G>T (p.Gln8347His) n.3004G>T c.5032G>T (n.5032G>T) n.9948G>T c.4135G>T (n.4135G>T) n.9840G>T c.851-2692C>A (n.851-2692C>A) n.2870G>T n.6893G>T c.2721G>T (p.Gln907His) c.26403G>T (p.Gln8801His) c.26391G>T (p.Gln8797His) c.26382G>T (p.Gln8794His) c.26361G>T (p.Gln8787His) c.26352G>T (p.Gln8784His) c.26346G>T (p.Gln8782His) c.26334G>T (p.Gln8778His) c.26331G>T (p.Gln8777His) c.26292G>T (p.Gln8764His) c.26277G>T (p.Gln8759His) c.26262G>T (p.Gln8754His) c.26250G>T (p.Gln8750His) c.26247G>T (p.Gln8749His) c.26244G>T (p.Gln8748His) c.*67G>T (n.*67G>T) c.26400G>T (p.Gln8800His) c.26388G>T (p.Gln8796His) c.26238G>T (p.Gln8746His) c.24678G>T (p.Gln8226His) c.24171G>T (p.Gln8057His) c.19638G>T (p.Gln6546His) c.26376G>T (p.Gln8792His) c.26325G>T (p.Gln8775His) c.26289G>T (p.Gln8763His) c.26136G>T (p.Gln8712His) | COSMIC COSMIC COSMIC |
6 | g.152122574C= | CA1673189025 | ESR1,SYNE1 | c.2790G= (p.Gln930=) c.26256G= (p.Gln8752=) c.26112G= (p.Gln8704=) c.1599G= c.1974G= c.1841G= c.2106G= (n.2106G=) c.25041G= (p.Gln8347=) n.3004G= c.5032G= (n.5032G=) n.9948G= c.4135G= (n.4135G=) n.9840G= c.851-2692C= (n.851-2692C=) n.2870G= n.6893G= c.2721G= (p.Gln907=) c.26403G= (p.Gln8801=) c.26391G= (p.Gln8797=) c.26382G= (p.Gln8794=) c.26361G= (p.Gln8787=) c.26352G= (p.Gln8784=) c.26346G= (p.Gln8782=) c.26334G= (p.Gln8778=) c.26331G= (p.Gln8777=) c.26292G= (p.Gln8764=) c.26277G= (p.Gln8759=) c.26262G= (p.Gln8754=) c.26250G= (p.Gln8750=) c.26247G= (p.Gln8749=) c.26244G= (p.Gln8748=) c.*67G= (n.*67G=) c.26400G= (p.Gln8800=) c.26388G= (p.Gln8796=) c.26238G= (p.Gln8746=) c.24678G= (p.Gln8226=) c.24171G= (p.Gln8057=) c.19638G= (p.Gln6546=) c.26376G= (p.Gln8792=) c.26325G= (p.Gln8775=) c.26289G= (p.Gln8763=) c.26136G= (p.Gln8712=) | |
6 | g.152122574C>G | CA366088943 | ESR1,SYNE1 | c.2790G>C (p.Gln930His) c.26256G>C (p.Gln8752His) c.26112G>C (p.Gln8704His) c.1599G>C c.1974G>C c.1841G>C c.2106G>C (n.2106G>C) c.25041G>C (p.Gln8347His) n.3004G>C c.5032G>C (n.5032G>C) n.9948G>C c.4135G>C (n.4135G>C) n.9840G>C c.851-2692C>G (n.851-2692C>G) n.2870G>C n.6893G>C c.2721G>C (p.Gln907His) c.26403G>C (p.Gln8801His) c.26391G>C (p.Gln8797His) c.26382G>C (p.Gln8794His) c.26361G>C (p.Gln8787His) c.26352G>C (p.Gln8784His) c.26346G>C (p.Gln8782His) c.26334G>C (p.Gln8778His) c.26331G>C (p.Gln8777His) c.26292G>C (p.Gln8764His) c.26277G>C (p.Gln8759His) c.26262G>C (p.Gln8754His) c.26250G>C (p.Gln8750His) c.26247G>C (p.Gln8749His) c.26244G>C (p.Gln8748His) c.*67G>C (n.*67G>C) c.26400G>C (p.Gln8800His) c.26388G>C (p.Gln8796His) c.26238G>C (p.Gln8746His) c.24678G>C (p.Gln8226His) c.24171G>C (p.Gln8057His) c.19638G>C (p.Gln6546His) c.26376G>C (p.Gln8792His) c.26325G>C (p.Gln8775His) c.26289G>C (p.Gln8763His) c.26136G>C (p.Gln8712His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122574C>T | CA452969552 | ESR1,SYNE1 | c.2790G>A (p.Gln930=) c.26256G>A (p.Gln8752=) c.26112G>A (p.Gln8704=) c.1599G>A c.1974G>A c.1841G>A c.2106G>A (n.2106G>A) c.25041G>A (p.Gln8347=) n.3004G>A c.5032G>A (n.5032G>A) n.9948G>A c.4135G>A (n.4135G>A) n.9840G>A c.851-2692C>T (n.851-2692C>T) n.2870G>A n.6893G>A c.2721G>A (p.Gln907=) c.26403G>A (p.Gln8801=) c.26391G>A (p.Gln8797=) c.26382G>A (p.Gln8794=) c.26361G>A (p.Gln8787=) c.26352G>A (p.Gln8784=) c.26346G>A (p.Gln8782=) c.26334G>A (p.Gln8778=) c.26331G>A (p.Gln8777=) c.26292G>A (p.Gln8764=) c.26277G>A (p.Gln8759=) c.26262G>A (p.Gln8754=) c.26250G>A (p.Gln8750=) c.26247G>A (p.Gln8749=) c.26244G>A (p.Gln8748=) c.*67G>A (n.*67G>A) c.26400G>A (p.Gln8800=) c.26388G>A (p.Gln8796=) c.26238G>A (p.Gln8746=) c.24678G>A (p.Gln8226=) c.24171G>A (p.Gln8057=) c.19638G>A (p.Gln6546=) c.26376G>A (p.Gln8792=) c.26325G>A (p.Gln8775=) c.26289G>A (p.Gln8763=) c.26136G>A (p.Gln8712=) | |
6 | g.152122575T>A | CA366088945 | ESR1,SYNE1 | c.2789A>T (p.Gln930Leu) c.26255A>T (p.Gln8752Leu) c.26111A>T (p.Gln8704Leu) c.1598A>T c.1973A>T c.1840A>T c.2105A>T (n.2105A>T) c.25040A>T (p.Gln8347Leu) n.3003A>T c.5031A>T (n.5031A>T) n.9947A>T c.4134A>T (n.4134A>T) n.9839A>T c.851-2691T>A (n.851-2691T>A) n.2869A>T n.6892A>T c.2720A>T (p.Gln907Leu) c.26402A>T (p.Gln8801Leu) c.26390A>T (p.Gln8797Leu) c.26381A>T (p.Gln8794Leu) c.26360A>T (p.Gln8787Leu) c.26351A>T (p.Gln8784Leu) c.26345A>T (p.Gln8782Leu) c.26333A>T (p.Gln8778Leu) c.26330A>T (p.Gln8777Leu) c.26291A>T (p.Gln8764Leu) c.26276A>T (p.Gln8759Leu) c.26261A>T (p.Gln8754Leu) c.26249A>T (p.Gln8750Leu) c.26246A>T (p.Gln8749Leu) c.26243A>T (p.Gln8748Leu) c.*66A>T (n.*66A>T) c.26399A>T (p.Gln8800Leu) c.26387A>T (p.Gln8796Leu) c.26237A>T (p.Gln8746Leu) c.24677A>T (p.Gln8226Leu) c.24170A>T (p.Gln8057Leu) c.19637A>T (p.Gln6546Leu) c.26375A>T (p.Gln8792Leu) c.26324A>T (p.Gln8775Leu) c.26288A>T (p.Gln8763Leu) c.26135A>T (p.Gln8712Leu) | |
6 | g.152122575T>C | CA366088947 | ESR1,SYNE1 | c.2789A>G (p.Gln930Arg) c.26255A>G (p.Gln8752Arg) c.26111A>G (p.Gln8704Arg) c.1598A>G c.1973A>G c.1840A>G c.2105A>G (n.2105A>G) c.25040A>G (p.Gln8347Arg) n.3003A>G c.5031A>G (n.5031A>G) n.9947A>G c.4134A>G (n.4134A>G) n.9839A>G c.851-2691T>C (n.851-2691T>C) n.2869A>G n.6892A>G c.2720A>G (p.Gln907Arg) c.26402A>G (p.Gln8801Arg) c.26390A>G (p.Gln8797Arg) c.26381A>G (p.Gln8794Arg) c.26360A>G (p.Gln8787Arg) c.26351A>G (p.Gln8784Arg) c.26345A>G (p.Gln8782Arg) c.26333A>G (p.Gln8778Arg) c.26330A>G (p.Gln8777Arg) c.26291A>G (p.Gln8764Arg) c.26276A>G (p.Gln8759Arg) c.26261A>G (p.Gln8754Arg) c.26249A>G (p.Gln8750Arg) c.26246A>G (p.Gln8749Arg) c.26243A>G (p.Gln8748Arg) c.*66A>G (n.*66A>G) c.26399A>G (p.Gln8800Arg) c.26387A>G (p.Gln8796Arg) c.26237A>G (p.Gln8746Arg) c.24677A>G (p.Gln8226Arg) c.24170A>G (p.Gln8057Arg) c.19637A>G (p.Gln6546Arg) c.26375A>G (p.Gln8792Arg) c.26324A>G (p.Gln8775Arg) c.26288A>G (p.Gln8763Arg) c.26135A>G (p.Gln8712Arg) | |
6 | g.152122575T>G | CA366088949 | ESR1,SYNE1 | c.2789A>C (p.Gln930Pro) c.26255A>C (p.Gln8752Pro) c.26111A>C (p.Gln8704Pro) c.1598A>C c.1973A>C c.1840A>C c.2105A>C (n.2105A>C) c.25040A>C (p.Gln8347Pro) n.3003A>C c.5031A>C (n.5031A>C) n.9947A>C c.4134A>C (n.4134A>C) n.9839A>C c.851-2691T>G (n.851-2691T>G) n.2869A>C n.6892A>C c.2720A>C (p.Gln907Pro) c.26402A>C (p.Gln8801Pro) c.26390A>C (p.Gln8797Pro) c.26381A>C (p.Gln8794Pro) c.26360A>C (p.Gln8787Pro) c.26351A>C (p.Gln8784Pro) c.26345A>C (p.Gln8782Pro) c.26333A>C (p.Gln8778Pro) c.26330A>C (p.Gln8777Pro) c.26291A>C (p.Gln8764Pro) c.26276A>C (p.Gln8759Pro) c.26261A>C (p.Gln8754Pro) c.26249A>C (p.Gln8750Pro) c.26246A>C (p.Gln8749Pro) c.26243A>C (p.Gln8748Pro) c.*66A>C (n.*66A>C) c.26399A>C (p.Gln8800Pro) c.26387A>C (p.Gln8796Pro) c.26237A>C (p.Gln8746Pro) c.24677A>C (p.Gln8226Pro) c.24170A>C (p.Gln8057Pro) c.19637A>C (p.Gln6546Pro) c.26375A>C (p.Gln8792Pro) c.26324A>C (p.Gln8775Pro) c.26288A>C (p.Gln8763Pro) c.26135A>C (p.Gln8712Pro) | |
6 | g.152122576G>A | CA366088951 | ESR1,SYNE1 | c.2788C>T (p.Gln930Ter) c.26254C>T (p.Gln8752Ter) c.26110C>T (p.Gln8704Ter) c.1597C>T c.1972C>T c.1839C>T c.2104C>T (n.2104C>T) c.25039C>T (p.Gln8347Ter) n.3002C>T c.5030C>T (n.5030C>T) n.9946C>T c.4133C>T (n.4133C>T) n.9838C>T c.851-2690G>A (n.851-2690G>A) n.2868C>T n.6891C>T c.2719C>T (p.Gln907Ter) c.26401C>T (p.Gln8801Ter) c.26389C>T (p.Gln8797Ter) c.26380C>T (p.Gln8794Ter) c.26359C>T (p.Gln8787Ter) c.26350C>T (p.Gln8784Ter) c.26344C>T (p.Gln8782Ter) c.26332C>T (p.Gln8778Ter) c.26329C>T (p.Gln8777Ter) c.26290C>T (p.Gln8764Ter) c.26275C>T (p.Gln8759Ter) c.26260C>T (p.Gln8754Ter) c.26248C>T (p.Gln8750Ter) c.26245C>T (p.Gln8749Ter) c.26242C>T (p.Gln8748Ter) c.*65C>T (n.*65C>T) c.26398C>T (p.Gln8800Ter) c.26386C>T (p.Gln8796Ter) c.26236C>T (p.Gln8746Ter) c.24676C>T (p.Gln8226Ter) c.24169C>T (p.Gln8057Ter) c.19636C>T (p.Gln6546Ter) c.26374C>T (p.Gln8792Ter) c.26323C>T (p.Gln8775Ter) c.26287C>T (p.Gln8763Ter) c.26134C>T (p.Gln8712Ter) | |
6 | g.152122576G>C | CA366088953 | ESR1,SYNE1 | c.2788C>G (p.Gln930Glu) c.26254C>G (p.Gln8752Glu) c.26110C>G (p.Gln8704Glu) c.1597C>G c.1972C>G c.1839C>G c.2104C>G (n.2104C>G) c.25039C>G (p.Gln8347Glu) n.3002C>G c.5030C>G (n.5030C>G) n.9946C>G c.4133C>G (n.4133C>G) n.9838C>G c.851-2690G>C (n.851-2690G>C) n.2868C>G n.6891C>G c.2719C>G (p.Gln907Glu) c.26401C>G (p.Gln8801Glu) c.26389C>G (p.Gln8797Glu) c.26380C>G (p.Gln8794Glu) c.26359C>G (p.Gln8787Glu) c.26350C>G (p.Gln8784Glu) c.26344C>G (p.Gln8782Glu) c.26332C>G (p.Gln8778Glu) c.26329C>G (p.Gln8777Glu) c.26290C>G (p.Gln8764Glu) c.26275C>G (p.Gln8759Glu) c.26260C>G (p.Gln8754Glu) c.26248C>G (p.Gln8750Glu) c.26245C>G (p.Gln8749Glu) c.26242C>G (p.Gln8748Glu) c.*65C>G (n.*65C>G) c.26398C>G (p.Gln8800Glu) c.26386C>G (p.Gln8796Glu) c.26236C>G (p.Gln8746Glu) c.24676C>G (p.Gln8226Glu) c.24169C>G (p.Gln8057Glu) c.19636C>G (p.Gln6546Glu) c.26374C>G (p.Gln8792Glu) c.26323C>G (p.Gln8775Glu) c.26287C>G (p.Gln8763Glu) c.26134C>G (p.Gln8712Glu) | |
6 | g.152122576G>T | CA366088955 | ESR1,SYNE1 | c.2788C>A (p.Gln930Lys) c.26254C>A (p.Gln8752Lys) c.26110C>A (p.Gln8704Lys) c.1597C>A c.1972C>A c.1839C>A c.2104C>A (n.2104C>A) c.25039C>A (p.Gln8347Lys) n.3002C>A c.5030C>A (n.5030C>A) n.9946C>A c.4133C>A (n.4133C>A) n.9838C>A c.851-2690G>T (n.851-2690G>T) n.2868C>A n.6891C>A c.2719C>A (p.Gln907Lys) c.26401C>A (p.Gln8801Lys) c.26389C>A (p.Gln8797Lys) c.26380C>A (p.Gln8794Lys) c.26359C>A (p.Gln8787Lys) c.26350C>A (p.Gln8784Lys) c.26344C>A (p.Gln8782Lys) c.26332C>A (p.Gln8778Lys) c.26329C>A (p.Gln8777Lys) c.26290C>A (p.Gln8764Lys) c.26275C>A (p.Gln8759Lys) c.26260C>A (p.Gln8754Lys) c.26248C>A (p.Gln8750Lys) c.26245C>A (p.Gln8749Lys) c.26242C>A (p.Gln8748Lys) c.*65C>A (n.*65C>A) c.26398C>A (p.Gln8800Lys) c.26386C>A (p.Gln8796Lys) c.26236C>A (p.Gln8746Lys) c.24676C>A (p.Gln8226Lys) c.24169C>A (p.Gln8057Lys) c.19636C>A (p.Gln6546Lys) c.26374C>A (p.Gln8792Lys) c.26323C>A (p.Gln8775Lys) c.26287C>A (p.Gln8763Lys) c.26134C>A (p.Gln8712Lys) | |
6 | g.152122577A>C | CA452969558 | ESR1,SYNE1 | c.2787T>G (p.Leu929=) c.26253T>G (p.Leu8751=) c.26109T>G (p.Leu8703=) c.1596T>G c.1971T>G c.1838T>G c.2103T>G (n.2103T>G) c.25038T>G (p.Leu8346=) n.3001T>G c.5029T>G (n.5029T>G) n.9945T>G c.4132T>G (n.4132T>G) n.9837T>G c.851-2689A>C (n.851-2689A>C) n.2867T>G n.6890T>G c.2718T>G (p.Leu906=) c.26400T>G (p.Leu8800=) c.26388T>G (p.Leu8796=) c.26379T>G (p.Leu8793=) c.26358T>G (p.Leu8786=) c.26349T>G (p.Leu8783=) c.26343T>G (p.Leu8781=) c.26331T>G (p.Leu8777=) c.26328T>G (p.Leu8776=) c.26289T>G (p.Leu8763=) c.26274T>G (p.Leu8758=) c.26259T>G (p.Leu8753=) c.26247T>G (p.Leu8749=) c.26244T>G (p.Leu8748=) c.26241T>G (p.Leu8747=) c.*64T>G (n.*64T>G) c.26397T>G (p.Leu8799=) c.26385T>G (p.Leu8795=) c.26235T>G (p.Leu8745=) c.24675T>G (p.Leu8225=) c.24168T>G (p.Leu8056=) c.19635T>G (p.Leu6545=) c.26373T>G (p.Leu8791=) c.26322T>G (p.Leu8774=) c.26286T>G (p.Leu8762=) c.26133T>G (p.Leu8711=) | |
6 | g.152122577A>G | CA452969559 | ESR1,SYNE1 | c.2787T>C (p.Leu929=) c.26253T>C (p.Leu8751=) c.26109T>C (p.Leu8703=) c.1596T>C c.1971T>C c.1838T>C c.2103T>C (n.2103T>C) c.25038T>C (p.Leu8346=) n.3001T>C c.5029T>C (n.5029T>C) n.9945T>C c.4132T>C (n.4132T>C) n.9837T>C c.851-2689A>G (n.851-2689A>G) n.2867T>C n.6890T>C c.2718T>C (p.Leu906=) c.26400T>C (p.Leu8800=) c.26388T>C (p.Leu8796=) c.26379T>C (p.Leu8793=) c.26358T>C (p.Leu8786=) c.26349T>C (p.Leu8783=) c.26343T>C (p.Leu8781=) c.26331T>C (p.Leu8777=) c.26328T>C (p.Leu8776=) c.26289T>C (p.Leu8763=) c.26274T>C (p.Leu8758=) c.26259T>C (p.Leu8753=) c.26247T>C (p.Leu8749=) c.26244T>C (p.Leu8748=) c.26241T>C (p.Leu8747=) c.*64T>C (n.*64T>C) c.26397T>C (p.Leu8799=) c.26385T>C (p.Leu8795=) c.26235T>C (p.Leu8745=) c.24675T>C (p.Leu8225=) c.24168T>C (p.Leu8056=) c.19635T>C (p.Leu6545=) c.26373T>C (p.Leu8791=) c.26322T>C (p.Leu8774=) c.26286T>C (p.Leu8762=) c.26133T>C (p.Leu8711=) | |
6 | g.152122577A>T | CA452969560 | ESR1,SYNE1 | c.2787T>A (p.Leu929=) c.26253T>A (p.Leu8751=) c.26109T>A (p.Leu8703=) c.1596T>A c.1971T>A c.1838T>A c.2103T>A (n.2103T>A) c.25038T>A (p.Leu8346=) n.3001T>A c.5029T>A (n.5029T>A) n.9945T>A c.4132T>A (n.4132T>A) n.9837T>A c.851-2689A>T (n.851-2689A>T) n.2867T>A n.6890T>A c.2718T>A (p.Leu906=) c.26400T>A (p.Leu8800=) c.26388T>A (p.Leu8796=) c.26379T>A (p.Leu8793=) c.26358T>A (p.Leu8786=) c.26349T>A (p.Leu8783=) c.26343T>A (p.Leu8781=) c.26331T>A (p.Leu8777=) c.26328T>A (p.Leu8776=) c.26289T>A (p.Leu8763=) c.26274T>A (p.Leu8758=) c.26259T>A (p.Leu8753=) c.26247T>A (p.Leu8749=) c.26244T>A (p.Leu8748=) c.26241T>A (p.Leu8747=) c.*64T>A (n.*64T>A) c.26397T>A (p.Leu8799=) c.26385T>A (p.Leu8795=) c.26235T>A (p.Leu8745=) c.24675T>A (p.Leu8225=) c.24168T>A (p.Leu8056=) c.19635T>A (p.Leu6545=) c.26373T>A (p.Leu8791=) c.26322T>A (p.Leu8774=) c.26286T>A (p.Leu8762=) c.26133T>A (p.Leu8711=) | |
6 | g.152122578A>C | CA366088957 | ESR1,SYNE1 | c.2786T>G (p.Leu929Arg) c.26252T>G (p.Leu8751Arg) c.26108T>G (p.Leu8703Arg) c.1595T>G c.1970T>G c.1837T>G c.2102T>G (n.2102T>G) c.25037T>G (p.Leu8346Arg) n.3000T>G c.5028T>G (n.5028T>G) n.9944T>G c.4131T>G (n.4131T>G) n.9836T>G c.851-2688A>C (n.851-2688A>C) n.2866T>G n.6889T>G c.2717T>G (p.Leu906Arg) c.26399T>G (p.Leu8800Arg) c.26387T>G (p.Leu8796Arg) c.26378T>G (p.Leu8793Arg) c.26357T>G (p.Leu8786Arg) c.26348T>G (p.Leu8783Arg) c.26342T>G (p.Leu8781Arg) c.26330T>G (p.Leu8777Arg) c.26327T>G (p.Leu8776Arg) c.26288T>G (p.Leu8763Arg) c.26273T>G (p.Leu8758Arg) c.26258T>G (p.Leu8753Arg) c.26246T>G (p.Leu8749Arg) c.26243T>G (p.Leu8748Arg) c.26240T>G (p.Leu8747Arg) c.*63T>G (n.*63T>G) c.26396T>G (p.Leu8799Arg) c.26384T>G (p.Leu8795Arg) c.26234T>G (p.Leu8745Arg) c.24674T>G (p.Leu8225Arg) c.24167T>G (p.Leu8056Arg) c.19634T>G (p.Leu6545Arg) c.26372T>G (p.Leu8791Arg) c.26321T>G (p.Leu8774Arg) c.26285T>G (p.Leu8762Arg) c.26132T>G (p.Leu8711Arg) | |
6 | g.152122578A>G | CA366088959 | ESR1,SYNE1 | c.2786T>C (p.Leu929Pro) c.26252T>C (p.Leu8751Pro) c.26108T>C (p.Leu8703Pro) c.1595T>C c.1970T>C c.1837T>C c.2102T>C (n.2102T>C) c.25037T>C (p.Leu8346Pro) n.3000T>C c.5028T>C (n.5028T>C) n.9944T>C c.4131T>C (n.4131T>C) n.9836T>C c.851-2688A>G (n.851-2688A>G) n.2866T>C n.6889T>C c.2717T>C (p.Leu906Pro) c.26399T>C (p.Leu8800Pro) c.26387T>C (p.Leu8796Pro) c.26378T>C (p.Leu8793Pro) c.26357T>C (p.Leu8786Pro) c.26348T>C (p.Leu8783Pro) c.26342T>C (p.Leu8781Pro) c.26330T>C (p.Leu8777Pro) c.26327T>C (p.Leu8776Pro) c.26288T>C (p.Leu8763Pro) c.26273T>C (p.Leu8758Pro) c.26258T>C (p.Leu8753Pro) c.26246T>C (p.Leu8749Pro) c.26243T>C (p.Leu8748Pro) c.26240T>C (p.Leu8747Pro) c.*63T>C (n.*63T>C) c.26396T>C (p.Leu8799Pro) c.26384T>C (p.Leu8795Pro) c.26234T>C (p.Leu8745Pro) c.24674T>C (p.Leu8225Pro) c.24167T>C (p.Leu8056Pro) c.19634T>C (p.Leu6545Pro) c.26372T>C (p.Leu8791Pro) c.26321T>C (p.Leu8774Pro) c.26285T>C (p.Leu8762Pro) c.26132T>C (p.Leu8711Pro) | |
6 | g.152122578A>T | CA366088961 | ESR1,SYNE1 | c.2786T>A (p.Leu929His) c.26252T>A (p.Leu8751His) c.26108T>A (p.Leu8703His) c.1595T>A c.1970T>A c.1837T>A c.2102T>A (n.2102T>A) c.25037T>A (p.Leu8346His) n.3000T>A c.5028T>A (n.5028T>A) n.9944T>A c.4131T>A (n.4131T>A) n.9836T>A c.851-2688A>T (n.851-2688A>T) n.2866T>A n.6889T>A c.2717T>A (p.Leu906His) c.26399T>A (p.Leu8800His) c.26387T>A (p.Leu8796His) c.26378T>A (p.Leu8793His) c.26357T>A (p.Leu8786His) c.26348T>A (p.Leu8783His) c.26342T>A (p.Leu8781His) c.26330T>A (p.Leu8777His) c.26327T>A (p.Leu8776His) c.26288T>A (p.Leu8763His) c.26273T>A (p.Leu8758His) c.26258T>A (p.Leu8753His) c.26246T>A (p.Leu8749His) c.26243T>A (p.Leu8748His) c.26240T>A (p.Leu8747His) c.*63T>A (n.*63T>A) c.26396T>A (p.Leu8799His) c.26384T>A (p.Leu8795His) c.26234T>A (p.Leu8745His) c.24674T>A (p.Leu8225His) c.24167T>A (p.Leu8056His) c.19634T>A (p.Leu6545His) c.26372T>A (p.Leu8791His) c.26321T>A (p.Leu8774His) c.26285T>A (p.Leu8762His) c.26132T>A (p.Leu8711His) | |
6 | g.152122579G>A | CA366088963 | ESR1,SYNE1 | c.2785C>T (p.Leu929Phe) c.26251C>T (p.Leu8751Phe) c.26107C>T (p.Leu8703Phe) c.1594C>T c.1969C>T c.1836C>T c.2101C>T (n.2101C>T) c.25036C>T (p.Leu8346Phe) n.2999C>T c.5027C>T (n.5027C>T) n.9943C>T c.4130C>T (n.4130C>T) n.9835C>T c.851-2687G>A (n.851-2687G>A) n.2865C>T n.6888C>T c.2716C>T (p.Leu906Phe) c.26398C>T (p.Leu8800Phe) c.26386C>T (p.Leu8796Phe) c.26377C>T (p.Leu8793Phe) c.26356C>T (p.Leu8786Phe) c.26347C>T (p.Leu8783Phe) c.26341C>T (p.Leu8781Phe) c.26329C>T (p.Leu8777Phe) c.26326C>T (p.Leu8776Phe) c.26287C>T (p.Leu8763Phe) c.26272C>T (p.Leu8758Phe) c.26257C>T (p.Leu8753Phe) c.26245C>T (p.Leu8749Phe) c.26242C>T (p.Leu8748Phe) c.26239C>T (p.Leu8747Phe) c.*62C>T (n.*62C>T) c.26395C>T (p.Leu8799Phe) c.26383C>T (p.Leu8795Phe) c.26233C>T (p.Leu8745Phe) c.24673C>T (p.Leu8225Phe) c.24166C>T (p.Leu8056Phe) c.19633C>T (p.Leu6545Phe) c.26371C>T (p.Leu8791Phe) c.26320C>T (p.Leu8774Phe) c.26284C>T (p.Leu8762Phe) c.26131C>T (p.Leu8711Phe) | |
6 | g.152122579G>C | CA366088965 | ESR1,SYNE1 | c.2785C>G (p.Leu929Val) c.26251C>G (p.Leu8751Val) c.26107C>G (p.Leu8703Val) c.1594C>G c.1969C>G c.1836C>G c.2101C>G (n.2101C>G) c.25036C>G (p.Leu8346Val) n.2999C>G c.5027C>G (n.5027C>G) n.9943C>G c.4130C>G (n.4130C>G) n.9835C>G c.851-2687G>C (n.851-2687G>C) n.2865C>G n.6888C>G c.2716C>G (p.Leu906Val) c.26398C>G (p.Leu8800Val) c.26386C>G (p.Leu8796Val) c.26377C>G (p.Leu8793Val) c.26356C>G (p.Leu8786Val) c.26347C>G (p.Leu8783Val) c.26341C>G (p.Leu8781Val) c.26329C>G (p.Leu8777Val) c.26326C>G (p.Leu8776Val) c.26287C>G (p.Leu8763Val) c.26272C>G (p.Leu8758Val) c.26257C>G (p.Leu8753Val) c.26245C>G (p.Leu8749Val) c.26242C>G (p.Leu8748Val) c.26239C>G (p.Leu8747Val) c.*62C>G (n.*62C>G) c.26395C>G (p.Leu8799Val) c.26383C>G (p.Leu8795Val) c.26233C>G (p.Leu8745Val) c.24673C>G (p.Leu8225Val) c.24166C>G (p.Leu8056Val) c.19633C>G (p.Leu6545Val) c.26371C>G (p.Leu8791Val) c.26320C>G (p.Leu8774Val) c.26284C>G (p.Leu8762Val) c.26131C>G (p.Leu8711Val) | |
6 | g.152122579G>T | CA366088967 | ESR1,SYNE1 | c.2785C>A (p.Leu929Ile) c.26251C>A (p.Leu8751Ile) c.26107C>A (p.Leu8703Ile) c.1594C>A c.1969C>A c.1836C>A c.2101C>A (n.2101C>A) c.25036C>A (p.Leu8346Ile) n.2999C>A c.5027C>A (n.5027C>A) n.9943C>A c.4130C>A (n.4130C>A) n.9835C>A c.851-2687G>T (n.851-2687G>T) n.2865C>A n.6888C>A c.2716C>A (p.Leu906Ile) c.26398C>A (p.Leu8800Ile) c.26386C>A (p.Leu8796Ile) c.26377C>A (p.Leu8793Ile) c.26356C>A (p.Leu8786Ile) c.26347C>A (p.Leu8783Ile) c.26341C>A (p.Leu8781Ile) c.26329C>A (p.Leu8777Ile) c.26326C>A (p.Leu8776Ile) c.26287C>A (p.Leu8763Ile) c.26272C>A (p.Leu8758Ile) c.26257C>A (p.Leu8753Ile) c.26245C>A (p.Leu8749Ile) c.26242C>A (p.Leu8748Ile) c.26239C>A (p.Leu8747Ile) c.*62C>A (n.*62C>A) c.26395C>A (p.Leu8799Ile) c.26383C>A (p.Leu8795Ile) c.26233C>A (p.Leu8745Ile) c.24673C>A (p.Leu8225Ile) c.24166C>A (p.Leu8056Ile) c.19633C>A (p.Leu6545Ile) c.26371C>A (p.Leu8791Ile) c.26320C>A (p.Leu8774Ile) c.26284C>A (p.Leu8762Ile) c.26131C>A (p.Leu8711Ile) | |
6 | g.152122580G>A | CA452969569 | ESR1,SYNE1 | c.2784C>T (p.Pro928=) c.26250C>T (p.Pro8750=) c.26106C>T (p.Pro8702=) c.1593C>T c.1968C>T c.1835C>T c.2100C>T (n.2100C>T) c.25035C>T (p.Pro8345=) n.2998C>T c.5026C>T (n.5026C>T) n.9942C>T c.4129C>T (n.4129C>T) n.9834C>T c.851-2686G>A (n.851-2686G>A) n.2864C>T n.6887C>T c.2715C>T (p.Pro905=) c.26397C>T (p.Pro8799=) c.26385C>T (p.Pro8795=) c.26376C>T (p.Pro8792=) c.26355C>T (p.Pro8785=) c.26346C>T (p.Pro8782=) c.26340C>T (p.Pro8780=) c.26328C>T (p.Pro8776=) c.26325C>T (p.Pro8775=) c.26286C>T (p.Pro8762=) c.26271C>T (p.Pro8757=) c.26256C>T (p.Pro8752=) c.26244C>T (p.Pro8748=) c.26241C>T (p.Pro8747=) c.26238C>T (p.Pro8746=) c.*61C>T (n.*61C>T) c.26394C>T (p.Pro8798=) c.26382C>T (p.Pro8794=) c.26232C>T (p.Pro8744=) c.24672C>T (p.Pro8224=) c.24165C>T (p.Pro8055=) c.19632C>T (p.Pro6544=) c.26370C>T (p.Pro8790=) c.26319C>T (p.Pro8773=) c.26283C>T (p.Pro8761=) c.26130C>T (p.Pro8710=) | gnomAD v4 |
6 | g.152122580G>C | CA452969567 | ESR1,SYNE1 | c.2784C>G (p.Pro928=) c.26250C>G (p.Pro8750=) c.26106C>G (p.Pro8702=) c.1593C>G c.1968C>G c.1835C>G c.2100C>G (n.2100C>G) c.25035C>G (p.Pro8345=) n.2998C>G c.5026C>G (n.5026C>G) n.9942C>G c.4129C>G (n.4129C>G) n.9834C>G c.851-2686G>C (n.851-2686G>C) n.2864C>G n.6887C>G c.2715C>G (p.Pro905=) c.26397C>G (p.Pro8799=) c.26385C>G (p.Pro8795=) c.26376C>G (p.Pro8792=) c.26355C>G (p.Pro8785=) c.26346C>G (p.Pro8782=) c.26340C>G (p.Pro8780=) c.26328C>G (p.Pro8776=) c.26325C>G (p.Pro8775=) c.26286C>G (p.Pro8762=) c.26271C>G (p.Pro8757=) c.26256C>G (p.Pro8752=) c.26244C>G (p.Pro8748=) c.26241C>G (p.Pro8747=) c.26238C>G (p.Pro8746=) c.*61C>G (n.*61C>G) c.26394C>G (p.Pro8798=) c.26382C>G (p.Pro8794=) c.26232C>G (p.Pro8744=) c.24672C>G (p.Pro8224=) c.24165C>G (p.Pro8055=) c.19632C>G (p.Pro6544=) c.26370C>G (p.Pro8790=) c.26319C>G (p.Pro8773=) c.26283C>G (p.Pro8761=) c.26130C>G (p.Pro8710=) | |
6 | g.152122580G>T | CA452969568 | ESR1,SYNE1 | c.2784C>A (p.Pro928=) c.26250C>A (p.Pro8750=) c.26106C>A (p.Pro8702=) c.1593C>A c.1968C>A c.1835C>A c.2100C>A (n.2100C>A) c.25035C>A (p.Pro8345=) n.2998C>A c.5026C>A (n.5026C>A) n.9942C>A c.4129C>A (n.4129C>A) n.9834C>A c.851-2686G>T (n.851-2686G>T) n.2864C>A n.6887C>A c.2715C>A (p.Pro905=) c.26397C>A (p.Pro8799=) c.26385C>A (p.Pro8795=) c.26376C>A (p.Pro8792=) c.26355C>A (p.Pro8785=) c.26346C>A (p.Pro8782=) c.26340C>A (p.Pro8780=) c.26328C>A (p.Pro8776=) c.26325C>A (p.Pro8775=) c.26286C>A (p.Pro8762=) c.26271C>A (p.Pro8757=) c.26256C>A (p.Pro8752=) c.26244C>A (p.Pro8748=) c.26241C>A (p.Pro8747=) c.26238C>A (p.Pro8746=) c.*61C>A (n.*61C>A) c.26394C>A (p.Pro8798=) c.26382C>A (p.Pro8794=) c.26232C>A (p.Pro8744=) c.24672C>A (p.Pro8224=) c.24165C>A (p.Pro8055=) c.19632C>A (p.Pro6544=) c.26370C>A (p.Pro8790=) c.26319C>A (p.Pro8773=) c.26283C>A (p.Pro8761=) c.26130C>A (p.Pro8710=) | |
6 | g.152122581G>A | CA366088973 | ESR1,SYNE1 | c.2783C>T (p.Pro928Leu) c.26249C>T (p.Pro8750Leu) c.26105C>T (p.Pro8702Leu) c.1592C>T c.1967C>T c.1834C>T c.2099C>T (n.2099C>T) c.25034C>T (p.Pro8345Leu) n.2997C>T c.5025C>T (n.5025C>T) n.9941C>T c.4128C>T (n.4128C>T) n.9833C>T c.851-2685G>A (n.851-2685G>A) n.2863C>T n.6886C>T c.2714C>T (p.Pro905Leu) c.26396C>T (p.Pro8799Leu) c.26384C>T (p.Pro8795Leu) c.26375C>T (p.Pro8792Leu) c.26354C>T (p.Pro8785Leu) c.26345C>T (p.Pro8782Leu) c.26339C>T (p.Pro8780Leu) c.26327C>T (p.Pro8776Leu) c.26324C>T (p.Pro8775Leu) c.26285C>T (p.Pro8762Leu) c.26270C>T (p.Pro8757Leu) c.26255C>T (p.Pro8752Leu) c.26243C>T (p.Pro8748Leu) c.26240C>T (p.Pro8747Leu) c.26237C>T (p.Pro8746Leu) c.*60C>T (n.*60C>T) c.26393C>T (p.Pro8798Leu) c.26381C>T (p.Pro8794Leu) c.26231C>T (p.Pro8744Leu) c.24671C>T (p.Pro8224Leu) c.24164C>T (p.Pro8055Leu) c.19631C>T (p.Pro6544Leu) c.26369C>T (p.Pro8790Leu) c.26318C>T (p.Pro8773Leu) c.26282C>T (p.Pro8761Leu) c.26129C>T (p.Pro8710Leu) | |
6 | g.152122581G>C | CA366088971 | ESR1,SYNE1 | c.2783C>G (p.Pro928Arg) c.26249C>G (p.Pro8750Arg) c.26105C>G (p.Pro8702Arg) c.1592C>G c.1967C>G c.1834C>G c.2099C>G (n.2099C>G) c.25034C>G (p.Pro8345Arg) n.2997C>G c.5025C>G (n.5025C>G) n.9941C>G c.4128C>G (n.4128C>G) n.9833C>G c.851-2685G>C (n.851-2685G>C) n.2863C>G n.6886C>G c.2714C>G (p.Pro905Arg) c.26396C>G (p.Pro8799Arg) c.26384C>G (p.Pro8795Arg) c.26375C>G (p.Pro8792Arg) c.26354C>G (p.Pro8785Arg) c.26345C>G (p.Pro8782Arg) c.26339C>G (p.Pro8780Arg) c.26327C>G (p.Pro8776Arg) c.26324C>G (p.Pro8775Arg) c.26285C>G (p.Pro8762Arg) c.26270C>G (p.Pro8757Arg) c.26255C>G (p.Pro8752Arg) c.26243C>G (p.Pro8748Arg) c.26240C>G (p.Pro8747Arg) c.26237C>G (p.Pro8746Arg) c.*60C>G (n.*60C>G) c.26393C>G (p.Pro8798Arg) c.26381C>G (p.Pro8794Arg) c.26231C>G (p.Pro8744Arg) c.24671C>G (p.Pro8224Arg) c.24164C>G (p.Pro8055Arg) c.19631C>G (p.Pro6544Arg) c.26369C>G (p.Pro8790Arg) c.26318C>G (p.Pro8773Arg) c.26282C>G (p.Pro8761Arg) c.26129C>G (p.Pro8710Arg) | |
6 | g.152122581G>T | CA366088970 | ESR1,SYNE1 | c.2783C>A (p.Pro928His) c.26249C>A (p.Pro8750His) c.26105C>A (p.Pro8702His) c.1592C>A c.1967C>A c.1834C>A c.2099C>A (n.2099C>A) c.25034C>A (p.Pro8345His) n.2997C>A c.5025C>A (n.5025C>A) n.9941C>A c.4128C>A (n.4128C>A) n.9833C>A c.851-2685G>T (n.851-2685G>T) n.2863C>A n.6886C>A c.2714C>A (p.Pro905His) c.26396C>A (p.Pro8799His) c.26384C>A (p.Pro8795His) c.26375C>A (p.Pro8792His) c.26354C>A (p.Pro8785His) c.26345C>A (p.Pro8782His) c.26339C>A (p.Pro8780His) c.26327C>A (p.Pro8776His) c.26324C>A (p.Pro8775His) c.26285C>A (p.Pro8762His) c.26270C>A (p.Pro8757His) c.26255C>A (p.Pro8752His) c.26243C>A (p.Pro8748His) c.26240C>A (p.Pro8747His) c.26237C>A (p.Pro8746His) c.*60C>A (n.*60C>A) c.26393C>A (p.Pro8798His) c.26381C>A (p.Pro8794His) c.26231C>A (p.Pro8744His) c.24671C>A (p.Pro8224His) c.24164C>A (p.Pro8055His) c.19631C>A (p.Pro6544His) c.26369C>A (p.Pro8790His) c.26318C>A (p.Pro8773His) c.26282C>A (p.Pro8761His) c.26129C>A (p.Pro8710His) | |
6 | g.152122582G>A | CA366088975 | ESR1,SYNE1 | c.2782C>T (p.Pro928Ser) c.26248C>T (p.Pro8750Ser) c.26104C>T (p.Pro8702Ser) c.1591C>T c.1966C>T c.1833C>T c.2098C>T (n.2098C>T) c.25033C>T (p.Pro8345Ser) n.2996C>T c.5024C>T (n.5024C>T) n.9940C>T c.4127C>T (n.4127C>T) n.9832C>T c.851-2684G>A (n.851-2684G>A) n.2862C>T n.6885C>T c.2713C>T (p.Pro905Ser) c.26395C>T (p.Pro8799Ser) c.26383C>T (p.Pro8795Ser) c.26374C>T (p.Pro8792Ser) c.26353C>T (p.Pro8785Ser) c.26344C>T (p.Pro8782Ser) c.26338C>T (p.Pro8780Ser) c.26326C>T (p.Pro8776Ser) c.26323C>T (p.Pro8775Ser) c.26284C>T (p.Pro8762Ser) c.26269C>T (p.Pro8757Ser) c.26254C>T (p.Pro8752Ser) c.26242C>T (p.Pro8748Ser) c.26239C>T (p.Pro8747Ser) c.26236C>T (p.Pro8746Ser) c.*59C>T (n.*59C>T) c.26392C>T (p.Pro8798Ser) c.26380C>T (p.Pro8794Ser) c.26230C>T (p.Pro8744Ser) c.24670C>T (p.Pro8224Ser) c.24163C>T (p.Pro8055Ser) c.19630C>T (p.Pro6544Ser) c.26368C>T (p.Pro8790Ser) c.26317C>T (p.Pro8773Ser) c.26281C>T (p.Pro8761Ser) c.26128C>T (p.Pro8710Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152122582G>C | CA366088978 | ESR1,SYNE1 | c.2782C>G (p.Pro928Ala) c.26248C>G (p.Pro8750Ala) c.26104C>G (p.Pro8702Ala) c.1591C>G c.1966C>G c.1833C>G c.2098C>G (n.2098C>G) c.25033C>G (p.Pro8345Ala) n.2996C>G c.5024C>G (n.5024C>G) n.9940C>G c.4127C>G (n.4127C>G) n.9832C>G c.851-2684G>C (n.851-2684G>C) n.2862C>G n.6885C>G c.2713C>G (p.Pro905Ala) c.26395C>G (p.Pro8799Ala) c.26383C>G (p.Pro8795Ala) c.26374C>G (p.Pro8792Ala) c.26353C>G (p.Pro8785Ala) c.26344C>G (p.Pro8782Ala) c.26338C>G (p.Pro8780Ala) c.26326C>G (p.Pro8776Ala) c.26323C>G (p.Pro8775Ala) c.26284C>G (p.Pro8762Ala) c.26269C>G (p.Pro8757Ala) c.26254C>G (p.Pro8752Ala) c.26242C>G (p.Pro8748Ala) c.26239C>G (p.Pro8747Ala) c.26236C>G (p.Pro8746Ala) c.*59C>G (n.*59C>G) c.26392C>G (p.Pro8798Ala) c.26380C>G (p.Pro8794Ala) c.26230C>G (p.Pro8744Ala) c.24670C>G (p.Pro8224Ala) c.24163C>G (p.Pro8055Ala) c.19630C>G (p.Pro6544Ala) c.26368C>G (p.Pro8790Ala) c.26317C>G (p.Pro8773Ala) c.26281C>G (p.Pro8761Ala) c.26128C>G (p.Pro8710Ala) | |
6 | g.152122582G= | CA1673189037 | ESR1,SYNE1 | c.2782C= (p.Pro928=) c.26248C= (p.Pro8750=) c.26104C= (p.Pro8702=) c.1591C= c.1966C= c.1833C= c.2098C= (n.2098C=) c.25033C= (p.Pro8345=) n.2996C= c.5024C= (n.5024C=) n.9940C= c.4127C= (n.4127C=) n.9832C= c.851-2684G= (n.851-2684G=) n.2862C= n.6885C= c.2713C= (p.Pro905=) c.26395C= (p.Pro8799=) c.26383C= (p.Pro8795=) c.26374C= (p.Pro8792=) c.26353C= (p.Pro8785=) c.26344C= (p.Pro8782=) c.26338C= (p.Pro8780=) c.26326C= (p.Pro8776=) c.26323C= (p.Pro8775=) c.26284C= (p.Pro8762=) c.26269C= (p.Pro8757=) c.26254C= (p.Pro8752=) c.26242C= (p.Pro8748=) c.26239C= (p.Pro8747=) c.26236C= (p.Pro8746=) c.*59C= (n.*59C=) c.26392C= (p.Pro8798=) c.26380C= (p.Pro8794=) c.26230C= (p.Pro8744=) c.24670C= (p.Pro8224=) c.24163C= (p.Pro8055=) c.19630C= (p.Pro6544=) c.26368C= (p.Pro8790=) c.26317C= (p.Pro8773=) c.26281C= (p.Pro8761=) c.26128C= (p.Pro8710=) | |
6 | g.152122582G>T | CA366088977 | ESR1,SYNE1 | c.2782C>A (p.Pro928Thr) c.26248C>A (p.Pro8750Thr) c.26104C>A (p.Pro8702Thr) c.1591C>A c.1966C>A c.1833C>A c.2098C>A (n.2098C>A) c.25033C>A (p.Pro8345Thr) n.2996C>A c.5024C>A (n.5024C>A) n.9940C>A c.4127C>A (n.4127C>A) n.9832C>A c.851-2684G>T (n.851-2684G>T) n.2862C>A n.6885C>A c.2713C>A (p.Pro905Thr) c.26395C>A (p.Pro8799Thr) c.26383C>A (p.Pro8795Thr) c.26374C>A (p.Pro8792Thr) c.26353C>A (p.Pro8785Thr) c.26344C>A (p.Pro8782Thr) c.26338C>A (p.Pro8780Thr) c.26326C>A (p.Pro8776Thr) c.26323C>A (p.Pro8775Thr) c.26284C>A (p.Pro8762Thr) c.26269C>A (p.Pro8757Thr) c.26254C>A (p.Pro8752Thr) c.26242C>A (p.Pro8748Thr) c.26239C>A (p.Pro8747Thr) c.26236C>A (p.Pro8746Thr) c.*59C>A (n.*59C>A) c.26392C>A (p.Pro8798Thr) c.26380C>A (p.Pro8794Thr) c.26230C>A (p.Pro8744Thr) c.24670C>A (p.Pro8224Thr) c.24163C>A (p.Pro8055Thr) c.19630C>A (p.Pro6544Thr) c.26368C>A (p.Pro8790Thr) c.26317C>A (p.Pro8773Thr) c.26281C>A (p.Pro8761Thr) c.26128C>A (p.Pro8710Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122583A>C | CA452969577 | ESR1,SYNE1 | c.2781T>G (p.Leu927=) c.26247T>G (p.Leu8749=) c.26103T>G (p.Leu8701=) c.1590T>G c.1965T>G c.1832T>G c.2097T>G (n.2097T>G) c.25032T>G (p.Leu8344=) n.2995T>G c.5023T>G (n.5023T>G) n.9939T>G c.4126T>G (n.4126T>G) n.9831T>G c.851-2683A>C (n.851-2683A>C) n.2861T>G n.6884T>G c.2712T>G (p.Leu904=) c.26394T>G (p.Leu8798=) c.26382T>G (p.Leu8794=) c.26373T>G (p.Leu8791=) c.26352T>G (p.Leu8784=) c.26343T>G (p.Leu8781=) c.26337T>G (p.Leu8779=) c.26325T>G (p.Leu8775=) c.26322T>G (p.Leu8774=) c.26283T>G (p.Leu8761=) c.26268T>G (p.Leu8756=) c.26253T>G (p.Leu8751=) c.26241T>G (p.Leu8747=) c.26238T>G (p.Leu8746=) c.26235T>G (p.Leu8745=) c.*58T>G (n.*58T>G) c.26391T>G (p.Leu8797=) c.26379T>G (p.Leu8793=) c.26229T>G (p.Leu8743=) c.24669T>G (p.Leu8223=) c.24162T>G (p.Leu8054=) c.19629T>G (p.Leu6543=) c.26367T>G (p.Leu8789=) c.26316T>G (p.Leu8772=) c.26280T>G (p.Leu8760=) c.26127T>G (p.Leu8709=) | |
6 | g.152122583A>G | CA452969578 | ESR1,SYNE1 | c.2781T>C (p.Leu927=) c.26247T>C (p.Leu8749=) c.26103T>C (p.Leu8701=) c.1590T>C c.1965T>C c.1832T>C c.2097T>C (n.2097T>C) c.25032T>C (p.Leu8344=) n.2995T>C c.5023T>C (n.5023T>C) n.9939T>C c.4126T>C (n.4126T>C) n.9831T>C c.851-2683A>G (n.851-2683A>G) n.2861T>C n.6884T>C c.2712T>C (p.Leu904=) c.26394T>C (p.Leu8798=) c.26382T>C (p.Leu8794=) c.26373T>C (p.Leu8791=) c.26352T>C (p.Leu8784=) c.26343T>C (p.Leu8781=) c.26337T>C (p.Leu8779=) c.26325T>C (p.Leu8775=) c.26322T>C (p.Leu8774=) c.26283T>C (p.Leu8761=) c.26268T>C (p.Leu8756=) c.26253T>C (p.Leu8751=) c.26241T>C (p.Leu8747=) c.26238T>C (p.Leu8746=) c.26235T>C (p.Leu8745=) c.*58T>C (n.*58T>C) c.26391T>C (p.Leu8797=) c.26379T>C (p.Leu8793=) c.26229T>C (p.Leu8743=) c.24669T>C (p.Leu8223=) c.24162T>C (p.Leu8054=) c.19629T>C (p.Leu6543=) c.26367T>C (p.Leu8789=) c.26316T>C (p.Leu8772=) c.26280T>C (p.Leu8760=) c.26127T>C (p.Leu8709=) | |
6 | g.152122583A>T | CA452969581 | ESR1,SYNE1 | c.2781T>A (p.Leu927=) c.26247T>A (p.Leu8749=) c.26103T>A (p.Leu8701=) c.1590T>A c.1965T>A c.1832T>A c.2097T>A (n.2097T>A) c.25032T>A (p.Leu8344=) n.2995T>A c.5023T>A (n.5023T>A) n.9939T>A c.4126T>A (n.4126T>A) n.9831T>A c.851-2683A>T (n.851-2683A>T) n.2861T>A n.6884T>A c.2712T>A (p.Leu904=) c.26394T>A (p.Leu8798=) c.26382T>A (p.Leu8794=) c.26373T>A (p.Leu8791=) c.26352T>A (p.Leu8784=) c.26343T>A (p.Leu8781=) c.26337T>A (p.Leu8779=) c.26325T>A (p.Leu8775=) c.26322T>A (p.Leu8774=) c.26283T>A (p.Leu8761=) c.26268T>A (p.Leu8756=) c.26253T>A (p.Leu8751=) c.26241T>A (p.Leu8747=) c.26238T>A (p.Leu8746=) c.26235T>A (p.Leu8745=) c.*58T>A (n.*58T>A) c.26391T>A (p.Leu8797=) c.26379T>A (p.Leu8793=) c.26229T>A (p.Leu8743=) c.24669T>A (p.Leu8223=) c.24162T>A (p.Leu8054=) c.19629T>A (p.Leu6543=) c.26367T>A (p.Leu8789=) c.26316T>A (p.Leu8772=) c.26280T>A (p.Leu8760=) c.26127T>A (p.Leu8709=) | |
6 | g.152122584A>C | CA366088982 | ESR1,SYNE1 | c.2780T>G (p.Leu927Arg) c.26246T>G (p.Leu8749Arg) c.26102T>G (p.Leu8701Arg) c.1589T>G c.1964T>G c.1831T>G c.2096T>G (n.2096T>G) c.25031T>G (p.Leu8344Arg) n.2994T>G c.5022T>G (n.5022T>G) n.9938T>G c.4125T>G (n.4125T>G) n.9830T>G c.851-2682A>C (n.851-2682A>C) n.2860T>G n.6883T>G c.2711T>G (p.Leu904Arg) c.26393T>G (p.Leu8798Arg) c.26381T>G (p.Leu8794Arg) c.26372T>G (p.Leu8791Arg) c.26351T>G (p.Leu8784Arg) c.26342T>G (p.Leu8781Arg) c.26336T>G (p.Leu8779Arg) c.26324T>G (p.Leu8775Arg) c.26321T>G (p.Leu8774Arg) c.26282T>G (p.Leu8761Arg) c.26267T>G (p.Leu8756Arg) c.26252T>G (p.Leu8751Arg) c.26240T>G (p.Leu8747Arg) c.26237T>G (p.Leu8746Arg) c.26234T>G (p.Leu8745Arg) c.*57T>G (n.*57T>G) c.26390T>G (p.Leu8797Arg) c.26378T>G (p.Leu8793Arg) c.26228T>G (p.Leu8743Arg) c.24668T>G (p.Leu8223Arg) c.24161T>G (p.Leu8054Arg) c.19628T>G (p.Leu6543Arg) c.26366T>G (p.Leu8789Arg) c.26315T>G (p.Leu8772Arg) c.26279T>G (p.Leu8760Arg) c.26126T>G (p.Leu8709Arg) | gnomAD v4 |
6 | g.152122584A>G | CA366088984 | ESR1,SYNE1 | c.2780T>C (p.Leu927Pro) c.26246T>C (p.Leu8749Pro) c.26102T>C (p.Leu8701Pro) c.1589T>C c.1964T>C c.1831T>C c.2096T>C (n.2096T>C) c.25031T>C (p.Leu8344Pro) n.2994T>C c.5022T>C (n.5022T>C) n.9938T>C c.4125T>C (n.4125T>C) n.9830T>C c.851-2682A>G (n.851-2682A>G) n.2860T>C n.6883T>C c.2711T>C (p.Leu904Pro) c.26393T>C (p.Leu8798Pro) c.26381T>C (p.Leu8794Pro) c.26372T>C (p.Leu8791Pro) c.26351T>C (p.Leu8784Pro) c.26342T>C (p.Leu8781Pro) c.26336T>C (p.Leu8779Pro) c.26324T>C (p.Leu8775Pro) c.26321T>C (p.Leu8774Pro) c.26282T>C (p.Leu8761Pro) c.26267T>C (p.Leu8756Pro) c.26252T>C (p.Leu8751Pro) c.26240T>C (p.Leu8747Pro) c.26237T>C (p.Leu8746Pro) c.26234T>C (p.Leu8745Pro) c.*57T>C (n.*57T>C) c.26390T>C (p.Leu8797Pro) c.26378T>C (p.Leu8793Pro) c.26228T>C (p.Leu8743Pro) c.24668T>C (p.Leu8223Pro) c.24161T>C (p.Leu8054Pro) c.19628T>C (p.Leu6543Pro) c.26366T>C (p.Leu8789Pro) c.26315T>C (p.Leu8772Pro) c.26279T>C (p.Leu8760Pro) c.26126T>C (p.Leu8709Pro) | gnomAD v4 |
6 | g.152122584A>T | CA366088986 | ESR1,SYNE1 | c.2780T>A (p.Leu927His) c.26246T>A (p.Leu8749His) c.26102T>A (p.Leu8701His) c.1589T>A c.1964T>A c.1831T>A c.2096T>A (n.2096T>A) c.25031T>A (p.Leu8344His) n.2994T>A c.5022T>A (n.5022T>A) n.9938T>A c.4125T>A (n.4125T>A) n.9830T>A c.851-2682A>T (n.851-2682A>T) n.2860T>A n.6883T>A c.2711T>A (p.Leu904His) c.26393T>A (p.Leu8798His) c.26381T>A (p.Leu8794His) c.26372T>A (p.Leu8791His) c.26351T>A (p.Leu8784His) c.26342T>A (p.Leu8781His) c.26336T>A (p.Leu8779His) c.26324T>A (p.Leu8775His) c.26321T>A (p.Leu8774His) c.26282T>A (p.Leu8761His) c.26267T>A (p.Leu8756His) c.26252T>A (p.Leu8751His) c.26240T>A (p.Leu8747His) c.26237T>A (p.Leu8746His) c.26234T>A (p.Leu8745His) c.*57T>A (n.*57T>A) c.26390T>A (p.Leu8797His) c.26378T>A (p.Leu8793His) c.26228T>A (p.Leu8743His) c.24668T>A (p.Leu8223His) c.24161T>A (p.Leu8054His) c.19628T>A (p.Leu6543His) c.26366T>A (p.Leu8789His) c.26315T>A (p.Leu8772His) c.26279T>A (p.Leu8760His) c.26126T>A (p.Leu8709His) | |
6 | g.152122585G>A | CA366088988 | ESR1,SYNE1 | c.2779C>T (p.Leu927Phe) c.26245C>T (p.Leu8749Phe) c.26101C>T (p.Leu8701Phe) c.1588C>T c.1963C>T c.1830C>T c.2095C>T (n.2095C>T) c.25030C>T (p.Leu8344Phe) n.2993C>T c.5021C>T (n.5021C>T) n.9937C>T c.4124C>T (n.4124C>T) n.9829C>T c.851-2681G>A (n.851-2681G>A) n.2859C>T n.6882C>T c.2710C>T (p.Leu904Phe) c.26392C>T (p.Leu8798Phe) c.26380C>T (p.Leu8794Phe) c.26371C>T (p.Leu8791Phe) c.26350C>T (p.Leu8784Phe) c.26341C>T (p.Leu8781Phe) c.26335C>T (p.Leu8779Phe) c.26323C>T (p.Leu8775Phe) c.26320C>T (p.Leu8774Phe) c.26281C>T (p.Leu8761Phe) c.26266C>T (p.Leu8756Phe) c.26251C>T (p.Leu8751Phe) c.26239C>T (p.Leu8747Phe) c.26236C>T (p.Leu8746Phe) c.26233C>T (p.Leu8745Phe) c.*56C>T (n.*56C>T) c.26389C>T (p.Leu8797Phe) c.26377C>T (p.Leu8793Phe) c.26227C>T (p.Leu8743Phe) c.24667C>T (p.Leu8223Phe) c.24160C>T (p.Leu8054Phe) c.19627C>T (p.Leu6543Phe) c.26365C>T (p.Leu8789Phe) c.26314C>T (p.Leu8772Phe) c.26278C>T (p.Leu8760Phe) c.26125C>T (p.Leu8709Phe) | gnomAD v4 |
6 | g.152122585G>C | CA366088990 | ESR1,SYNE1 | c.2779C>G (p.Leu927Val) c.26245C>G (p.Leu8749Val) c.26101C>G (p.Leu8701Val) c.1588C>G c.1963C>G c.1830C>G c.2095C>G (n.2095C>G) c.25030C>G (p.Leu8344Val) n.2993C>G c.5021C>G (n.5021C>G) n.9937C>G c.4124C>G (n.4124C>G) n.9829C>G c.851-2681G>C (n.851-2681G>C) n.2859C>G n.6882C>G c.2710C>G (p.Leu904Val) c.26392C>G (p.Leu8798Val) c.26380C>G (p.Leu8794Val) c.26371C>G (p.Leu8791Val) c.26350C>G (p.Leu8784Val) c.26341C>G (p.Leu8781Val) c.26335C>G (p.Leu8779Val) c.26323C>G (p.Leu8775Val) c.26320C>G (p.Leu8774Val) c.26281C>G (p.Leu8761Val) c.26266C>G (p.Leu8756Val) c.26251C>G (p.Leu8751Val) c.26239C>G (p.Leu8747Val) c.26236C>G (p.Leu8746Val) c.26233C>G (p.Leu8745Val) c.*56C>G (n.*56C>G) c.26389C>G (p.Leu8797Val) c.26377C>G (p.Leu8793Val) c.26227C>G (p.Leu8743Val) c.24667C>G (p.Leu8223Val) c.24160C>G (p.Leu8054Val) c.19627C>G (p.Leu6543Val) c.26365C>G (p.Leu8789Val) c.26314C>G (p.Leu8772Val) c.26278C>G (p.Leu8760Val) c.26125C>G (p.Leu8709Val) | |
6 | g.152122585G>T | CA366088992 | ESR1,SYNE1 | c.2779C>A (p.Leu927Ile) c.26245C>A (p.Leu8749Ile) c.26101C>A (p.Leu8701Ile) c.1588C>A c.1963C>A c.1830C>A c.2095C>A (n.2095C>A) c.25030C>A (p.Leu8344Ile) n.2993C>A c.5021C>A (n.5021C>A) n.9937C>A c.4124C>A (n.4124C>A) n.9829C>A c.851-2681G>T (n.851-2681G>T) n.2859C>A n.6882C>A c.2710C>A (p.Leu904Ile) c.26392C>A (p.Leu8798Ile) c.26380C>A (p.Leu8794Ile) c.26371C>A (p.Leu8791Ile) c.26350C>A (p.Leu8784Ile) c.26341C>A (p.Leu8781Ile) c.26335C>A (p.Leu8779Ile) c.26323C>A (p.Leu8775Ile) c.26320C>A (p.Leu8774Ile) c.26281C>A (p.Leu8761Ile) c.26266C>A (p.Leu8756Ile) c.26251C>A (p.Leu8751Ile) c.26239C>A (p.Leu8747Ile) c.26236C>A (p.Leu8746Ile) c.26233C>A (p.Leu8745Ile) c.*56C>A (n.*56C>A) c.26389C>A (p.Leu8797Ile) c.26377C>A (p.Leu8793Ile) c.26227C>A (p.Leu8743Ile) c.24667C>A (p.Leu8223Ile) c.24160C>A (p.Leu8054Ile) c.19627C>A (p.Leu6543Ile) c.26365C>A (p.Leu8789Ile) c.26314C>A (p.Leu8772Ile) c.26278C>A (p.Leu8760Ile) c.26125C>A (p.Leu8709Ile) | gnomAD v4 |
6 | g.152122586A>C | CA452969592 | ESR1,SYNE1 | c.2778T>G (p.Ala926=) c.26244T>G (p.Ala8748=) c.26100T>G (p.Ala8700=) c.1587T>G c.1962T>G c.1829T>G c.2094T>G (n.2094T>G) c.25029T>G (p.Ala8343=) n.2992T>G c.5020T>G (n.5020T>G) n.9936T>G c.4123T>G (n.4123T>G) n.9828T>G c.851-2680A>C (n.851-2680A>C) n.2858T>G n.6881T>G c.2709T>G (p.Ala903=) c.26391T>G (p.Ala8797=) c.26379T>G (p.Ala8793=) c.26370T>G (p.Ala8790=) c.26349T>G (p.Ala8783=) c.26340T>G (p.Ala8780=) c.26334T>G (p.Ala8778=) c.26322T>G (p.Ala8774=) c.26319T>G (p.Ala8773=) c.26280T>G (p.Ala8760=) c.26265T>G (p.Ala8755=) c.26250T>G (p.Ala8750=) c.26238T>G (p.Ala8746=) c.26235T>G (p.Ala8745=) c.26232T>G (p.Ala8744=) c.*55T>G (n.*55T>G) c.26388T>G (p.Ala8796=) c.26376T>G (p.Ala8792=) c.26226T>G (p.Ala8742=) c.24666T>G (p.Ala8222=) c.24159T>G (p.Ala8053=) c.19626T>G (p.Ala6542=) c.26364T>G (p.Ala8788=) c.26313T>G (p.Ala8771=) c.26277T>G (p.Ala8759=) c.26124T>G (p.Ala8708=) | gnomAD v4 |
6 | g.152122586A>G | CA452969589 | ESR1,SYNE1 | c.2778T>C (p.Ala926=) c.26244T>C (p.Ala8748=) c.26100T>C (p.Ala8700=) c.1587T>C c.1962T>C c.1829T>C c.2094T>C (n.2094T>C) c.25029T>C (p.Ala8343=) n.2992T>C c.5020T>C (n.5020T>C) n.9936T>C c.4123T>C (n.4123T>C) n.9828T>C c.851-2680A>G (n.851-2680A>G) n.2858T>C n.6881T>C c.2709T>C (p.Ala903=) c.26391T>C (p.Ala8797=) c.26379T>C (p.Ala8793=) c.26370T>C (p.Ala8790=) c.26349T>C (p.Ala8783=) c.26340T>C (p.Ala8780=) c.26334T>C (p.Ala8778=) c.26322T>C (p.Ala8774=) c.26319T>C (p.Ala8773=) c.26280T>C (p.Ala8760=) c.26265T>C (p.Ala8755=) c.26250T>C (p.Ala8750=) c.26238T>C (p.Ala8746=) c.26235T>C (p.Ala8745=) c.26232T>C (p.Ala8744=) c.*55T>C (n.*55T>C) c.26388T>C (p.Ala8796=) c.26376T>C (p.Ala8792=) c.26226T>C (p.Ala8742=) c.24666T>C (p.Ala8222=) c.24159T>C (p.Ala8053=) c.19626T>C (p.Ala6542=) c.26364T>C (p.Ala8788=) c.26313T>C (p.Ala8771=) c.26277T>C (p.Ala8759=) c.26124T>C (p.Ala8708=) | |
6 | g.152122586A>T | CA452969590 | ESR1,SYNE1 | c.2778T>A (p.Ala926=) c.26244T>A (p.Ala8748=) c.26100T>A (p.Ala8700=) c.1587T>A c.1962T>A c.1829T>A c.2094T>A (n.2094T>A) c.25029T>A (p.Ala8343=) n.2992T>A c.5020T>A (n.5020T>A) n.9936T>A c.4123T>A (n.4123T>A) n.9828T>A c.851-2680A>T (n.851-2680A>T) n.2858T>A n.6881T>A c.2709T>A (p.Ala903=) c.26391T>A (p.Ala8797=) c.26379T>A (p.Ala8793=) c.26370T>A (p.Ala8790=) c.26349T>A (p.Ala8783=) c.26340T>A (p.Ala8780=) c.26334T>A (p.Ala8778=) c.26322T>A (p.Ala8774=) c.26319T>A (p.Ala8773=) c.26280T>A (p.Ala8760=) c.26265T>A (p.Ala8755=) c.26250T>A (p.Ala8750=) c.26238T>A (p.Ala8746=) c.26235T>A (p.Ala8745=) c.26232T>A (p.Ala8744=) c.*55T>A (n.*55T>A) c.26388T>A (p.Ala8796=) c.26376T>A (p.Ala8792=) c.26226T>A (p.Ala8742=) c.24666T>A (p.Ala8222=) c.24159T>A (p.Ala8053=) c.19626T>A (p.Ala6542=) c.26364T>A (p.Ala8788=) c.26313T>A (p.Ala8771=) c.26277T>A (p.Ala8759=) c.26124T>A (p.Ala8708=) | |
6 | g.152122587G>A | CA366088994 | ESR1,SYNE1 | c.2777C>T (p.Ala926Val) c.26243C>T (p.Ala8748Val) c.26099C>T (p.Ala8700Val) c.1586C>T c.1961C>T c.1828C>T c.2093C>T (n.2093C>T) c.25028C>T (p.Ala8343Val) n.2991C>T c.5019C>T (n.5019C>T) n.9935C>T c.4122C>T (n.4122C>T) n.9827C>T c.851-2679G>A (n.851-2679G>A) n.2857C>T n.6880C>T c.2708C>T (p.Ala903Val) c.26390C>T (p.Ala8797Val) c.26378C>T (p.Ala8793Val) c.26369C>T (p.Ala8790Val) c.26348C>T (p.Ala8783Val) c.26339C>T (p.Ala8780Val) c.26333C>T (p.Ala8778Val) c.26321C>T (p.Ala8774Val) c.26318C>T (p.Ala8773Val) c.26279C>T (p.Ala8760Val) c.26264C>T (p.Ala8755Val) c.26249C>T (p.Ala8750Val) c.26237C>T (p.Ala8746Val) c.26234C>T (p.Ala8745Val) c.26231C>T (p.Ala8744Val) c.*54C>T (n.*54C>T) c.26387C>T (p.Ala8796Val) c.26375C>T (p.Ala8792Val) c.26225C>T (p.Ala8742Val) c.24665C>T (p.Ala8222Val) c.24158C>T (p.Ala8053Val) c.19625C>T (p.Ala6542Val) c.26363C>T (p.Ala8788Val) c.26312C>T (p.Ala8771Val) c.26276C>T (p.Ala8759Val) c.26123C>T (p.Ala8708Val) | gnomAD v4 |
6 | g.152122587G>C | CA366088996 | ESR1,SYNE1 | c.2777C>G (p.Ala926Gly) c.26243C>G (p.Ala8748Gly) c.26099C>G (p.Ala8700Gly) c.1586C>G c.1961C>G c.1828C>G c.2093C>G (n.2093C>G) c.25028C>G (p.Ala8343Gly) n.2991C>G c.5019C>G (n.5019C>G) n.9935C>G c.4122C>G (n.4122C>G) n.9827C>G c.851-2679G>C (n.851-2679G>C) n.2857C>G n.6880C>G c.2708C>G (p.Ala903Gly) c.26390C>G (p.Ala8797Gly) c.26378C>G (p.Ala8793Gly) c.26369C>G (p.Ala8790Gly) c.26348C>G (p.Ala8783Gly) c.26339C>G (p.Ala8780Gly) c.26333C>G (p.Ala8778Gly) c.26321C>G (p.Ala8774Gly) c.26318C>G (p.Ala8773Gly) c.26279C>G (p.Ala8760Gly) c.26264C>G (p.Ala8755Gly) c.26249C>G (p.Ala8750Gly) c.26237C>G (p.Ala8746Gly) c.26234C>G (p.Ala8745Gly) c.26231C>G (p.Ala8744Gly) c.*54C>G (n.*54C>G) c.26387C>G (p.Ala8796Gly) c.26375C>G (p.Ala8792Gly) c.26225C>G (p.Ala8742Gly) c.24665C>G (p.Ala8222Gly) c.24158C>G (p.Ala8053Gly) c.19625C>G (p.Ala6542Gly) c.26363C>G (p.Ala8788Gly) c.26312C>G (p.Ala8771Gly) c.26276C>G (p.Ala8759Gly) c.26123C>G (p.Ala8708Gly) | |
6 | g.152122587G>T | CA366088998 | ESR1,SYNE1 | c.2777C>A (p.Ala926Asp) c.26243C>A (p.Ala8748Asp) c.26099C>A (p.Ala8700Asp) c.1586C>A c.1961C>A c.1828C>A c.2093C>A (n.2093C>A) c.25028C>A (p.Ala8343Asp) n.2991C>A c.5019C>A (n.5019C>A) n.9935C>A c.4122C>A (n.4122C>A) n.9827C>A c.851-2679G>T (n.851-2679G>T) n.2857C>A n.6880C>A c.2708C>A (p.Ala903Asp) c.26390C>A (p.Ala8797Asp) c.26378C>A (p.Ala8793Asp) c.26369C>A (p.Ala8790Asp) c.26348C>A (p.Ala8783Asp) c.26339C>A (p.Ala8780Asp) c.26333C>A (p.Ala8778Asp) c.26321C>A (p.Ala8774Asp) c.26318C>A (p.Ala8773Asp) c.26279C>A (p.Ala8760Asp) c.26264C>A (p.Ala8755Asp) c.26249C>A (p.Ala8750Asp) c.26237C>A (p.Ala8746Asp) c.26234C>A (p.Ala8745Asp) c.26231C>A (p.Ala8744Asp) c.*54C>A (n.*54C>A) c.26387C>A (p.Ala8796Asp) c.26375C>A (p.Ala8792Asp) c.26225C>A (p.Ala8742Asp) c.24665C>A (p.Ala8222Asp) c.24158C>A (p.Ala8053Asp) c.19625C>A (p.Ala6542Asp) c.26363C>A (p.Ala8788Asp) c.26312C>A (p.Ala8771Asp) c.26276C>A (p.Ala8759Asp) c.26123C>A (p.Ala8708Asp) | |
6 | g.152122588C>A | CA366089000 | ESR1,SYNE1 | c.2776G>T (p.Ala926Ser) c.26242G>T (p.Ala8748Ser) c.26098G>T (p.Ala8700Ser) c.1585G>T c.1960G>T c.1827G>T c.2092G>T (n.2092G>T) c.25027G>T (p.Ala8343Ser) n.2990G>T c.5018G>T (n.5018G>T) n.9934G>T c.4121G>T (n.4121G>T) n.9826G>T c.851-2678C>A (n.851-2678C>A) n.2856G>T n.6879G>T c.2707G>T (p.Ala903Ser) c.26389G>T (p.Ala8797Ser) c.26377G>T (p.Ala8793Ser) c.26368G>T (p.Ala8790Ser) c.26347G>T (p.Ala8783Ser) c.26338G>T (p.Ala8780Ser) c.26332G>T (p.Ala8778Ser) c.26320G>T (p.Ala8774Ser) c.26317G>T (p.Ala8773Ser) c.26278G>T (p.Ala8760Ser) c.26263G>T (p.Ala8755Ser) c.26248G>T (p.Ala8750Ser) c.26236G>T (p.Ala8746Ser) c.26233G>T (p.Ala8745Ser) c.26230G>T (p.Ala8744Ser) c.*53G>T (n.*53G>T) c.26386G>T (p.Ala8796Ser) c.26374G>T (p.Ala8792Ser) c.26224G>T (p.Ala8742Ser) c.24664G>T (p.Ala8222Ser) c.24157G>T (p.Ala8053Ser) c.19624G>T (p.Ala6542Ser) c.26362G>T (p.Ala8788Ser) c.26311G>T (p.Ala8771Ser) c.26275G>T (p.Ala8759Ser) c.26122G>T (p.Ala8708Ser) | |
6 | g.152122588C= | CA1673189043 | ESR1,SYNE1 | c.2776G= (p.Ala926=) c.26242G= (p.Ala8748=) c.26098G= (p.Ala8700=) c.1585G= c.1960G= c.1827G= c.2092G= (n.2092G=) c.25027G= (p.Ala8343=) n.2990G= c.5018G= (n.5018G=) n.9934G= c.4121G= (n.4121G=) n.9826G= c.851-2678C= (n.851-2678C=) n.2856G= n.6879G= c.2707G= (p.Ala903=) c.26389G= (p.Ala8797=) c.26377G= (p.Ala8793=) c.26368G= (p.Ala8790=) c.26347G= (p.Ala8783=) c.26338G= (p.Ala8780=) c.26332G= (p.Ala8778=) c.26320G= (p.Ala8774=) c.26317G= (p.Ala8773=) c.26278G= (p.Ala8760=) c.26263G= (p.Ala8755=) c.26248G= (p.Ala8750=) c.26236G= (p.Ala8746=) c.26233G= (p.Ala8745=) c.26230G= (p.Ala8744=) c.*53G= (n.*53G=) c.26386G= (p.Ala8796=) c.26374G= (p.Ala8792=) c.26224G= (p.Ala8742=) c.24664G= (p.Ala8222=) c.24157G= (p.Ala8053=) c.19624G= (p.Ala6542=) c.26362G= (p.Ala8788=) c.26311G= (p.Ala8771=) c.26275G= (p.Ala8759=) c.26122G= (p.Ala8708=) | |
6 | g.152122588C>G | CA366089002 | ESR1,SYNE1 | c.2776G>C (p.Ala926Pro) c.26242G>C (p.Ala8748Pro) c.26098G>C (p.Ala8700Pro) c.1585G>C c.1960G>C c.1827G>C c.2092G>C (n.2092G>C) c.25027G>C (p.Ala8343Pro) n.2990G>C c.5018G>C (n.5018G>C) n.9934G>C c.4121G>C (n.4121G>C) n.9826G>C c.851-2678C>G (n.851-2678C>G) n.2856G>C n.6879G>C c.2707G>C (p.Ala903Pro) c.26389G>C (p.Ala8797Pro) c.26377G>C (p.Ala8793Pro) c.26368G>C (p.Ala8790Pro) c.26347G>C (p.Ala8783Pro) c.26338G>C (p.Ala8780Pro) c.26332G>C (p.Ala8778Pro) c.26320G>C (p.Ala8774Pro) c.26317G>C (p.Ala8773Pro) c.26278G>C (p.Ala8760Pro) c.26263G>C (p.Ala8755Pro) c.26248G>C (p.Ala8750Pro) c.26236G>C (p.Ala8746Pro) c.26233G>C (p.Ala8745Pro) c.26230G>C (p.Ala8744Pro) c.*53G>C (n.*53G>C) c.26386G>C (p.Ala8796Pro) c.26374G>C (p.Ala8792Pro) c.26224G>C (p.Ala8742Pro) c.24664G>C (p.Ala8222Pro) c.24157G>C (p.Ala8053Pro) c.19624G>C (p.Ala6542Pro) c.26362G>C (p.Ala8788Pro) c.26311G>C (p.Ala8771Pro) c.26275G>C (p.Ala8759Pro) c.26122G>C (p.Ala8708Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122588C>T | CA366089004 | ESR1,SYNE1 | c.2776G>A (p.Ala926Thr) c.26242G>A (p.Ala8748Thr) c.26098G>A (p.Ala8700Thr) c.1585G>A c.1960G>A c.1827G>A c.2092G>A (n.2092G>A) c.25027G>A (p.Ala8343Thr) n.2990G>A c.5018G>A (n.5018G>A) n.9934G>A c.4121G>A (n.4121G>A) n.9826G>A c.851-2678C>T (n.851-2678C>T) n.2856G>A n.6879G>A c.2707G>A (p.Ala903Thr) c.26389G>A (p.Ala8797Thr) c.26377G>A (p.Ala8793Thr) c.26368G>A (p.Ala8790Thr) c.26347G>A (p.Ala8783Thr) c.26338G>A (p.Ala8780Thr) c.26332G>A (p.Ala8778Thr) c.26320G>A (p.Ala8774Thr) c.26317G>A (p.Ala8773Thr) c.26278G>A (p.Ala8760Thr) c.26263G>A (p.Ala8755Thr) c.26248G>A (p.Ala8750Thr) c.26236G>A (p.Ala8746Thr) c.26233G>A (p.Ala8745Thr) c.26230G>A (p.Ala8744Thr) c.*53G>A (n.*53G>A) c.26386G>A (p.Ala8796Thr) c.26374G>A (p.Ala8792Thr) c.26224G>A (p.Ala8742Thr) c.24664G>A (p.Ala8222Thr) c.24157G>A (p.Ala8053Thr) c.19624G>A (p.Ala6542Thr) c.26362G>A (p.Ala8788Thr) c.26311G>A (p.Ala8771Thr) c.26275G>A (p.Ala8759Thr) c.26122G>A (p.Ala8708Thr) | dbSNP gnomAD v4 |
6 | g.152122589T>A | CA452969603 | ESR1,SYNE1 | c.2775A>T (p.Ala925=) c.26241A>T (p.Ala8747=) c.26097A>T (p.Ala8699=) c.1584A>T c.1959A>T c.1826A>T c.2091A>T (n.2091A>T) c.25026A>T (p.Ala8342=) n.2989A>T c.5017A>T (n.5017A>T) n.9933A>T c.4120A>T (n.4120A>T) n.9825A>T c.851-2677T>A (n.851-2677T>A) n.2855A>T n.6878A>T c.2706A>T (p.Ala902=) c.26388A>T (p.Ala8796=) c.26376A>T (p.Ala8792=) c.26367A>T (p.Ala8789=) c.26346A>T (p.Ala8782=) c.26337A>T (p.Ala8779=) c.26331A>T (p.Ala8777=) c.26319A>T (p.Ala8773=) c.26316A>T (p.Ala8772=) c.26277A>T (p.Ala8759=) c.26262A>T (p.Ala8754=) c.26247A>T (p.Ala8749=) c.26235A>T (p.Ala8745=) c.26232A>T (p.Ala8744=) c.26229A>T (p.Ala8743=) c.*52A>T (n.*52A>T) c.26385A>T (p.Ala8795=) c.26373A>T (p.Ala8791=) c.26223A>T (p.Ala8741=) c.24663A>T (p.Ala8221=) c.24156A>T (p.Ala8052=) c.19623A>T (p.Ala6541=) c.26361A>T (p.Ala8787=) c.26310A>T (p.Ala8770=) c.26274A>T (p.Ala8758=) c.26121A>T (p.Ala8707=) | |
6 | g.152122589T>C | CA452969604 | ESR1,SYNE1 | c.2775A>G (p.Ala925=) c.26241A>G (p.Ala8747=) c.26097A>G (p.Ala8699=) c.1584A>G c.1959A>G c.1826A>G c.2091A>G (n.2091A>G) c.25026A>G (p.Ala8342=) n.2989A>G c.5017A>G (n.5017A>G) n.9933A>G c.4120A>G (n.4120A>G) n.9825A>G c.851-2677T>C (n.851-2677T>C) n.2855A>G n.6878A>G c.2706A>G (p.Ala902=) c.26388A>G (p.Ala8796=) c.26376A>G (p.Ala8792=) c.26367A>G (p.Ala8789=) c.26346A>G (p.Ala8782=) c.26337A>G (p.Ala8779=) c.26331A>G (p.Ala8777=) c.26319A>G (p.Ala8773=) c.26316A>G (p.Ala8772=) c.26277A>G (p.Ala8759=) c.26262A>G (p.Ala8754=) c.26247A>G (p.Ala8749=) c.26235A>G (p.Ala8745=) c.26232A>G (p.Ala8744=) c.26229A>G (p.Ala8743=) c.*52A>G (n.*52A>G) c.26385A>G (p.Ala8795=) c.26373A>G (p.Ala8791=) c.26223A>G (p.Ala8741=) c.24663A>G (p.Ala8221=) c.24156A>G (p.Ala8052=) c.19623A>G (p.Ala6541=) c.26361A>G (p.Ala8787=) c.26310A>G (p.Ala8770=) c.26274A>G (p.Ala8758=) c.26121A>G (p.Ala8707=) | ClinVar dbSNP |
6 | g.152122589T>G | CA452969605 | ESR1,SYNE1 | c.2775A>C (p.Ala925=) c.26241A>C (p.Ala8747=) c.26097A>C (p.Ala8699=) c.1584A>C c.1959A>C c.1826A>C c.2091A>C (n.2091A>C) c.25026A>C (p.Ala8342=) n.2989A>C c.5017A>C (n.5017A>C) n.9933A>C c.4120A>C (n.4120A>C) n.9825A>C c.851-2677T>G (n.851-2677T>G) n.2855A>C n.6878A>C c.2706A>C (p.Ala902=) c.26388A>C (p.Ala8796=) c.26376A>C (p.Ala8792=) c.26367A>C (p.Ala8789=) c.26346A>C (p.Ala8782=) c.26337A>C (p.Ala8779=) c.26331A>C (p.Ala8777=) c.26319A>C (p.Ala8773=) c.26316A>C (p.Ala8772=) c.26277A>C (p.Ala8759=) c.26262A>C (p.Ala8754=) c.26247A>C (p.Ala8749=) c.26235A>C (p.Ala8745=) c.26232A>C (p.Ala8744=) c.26229A>C (p.Ala8743=) c.*52A>C (n.*52A>C) c.26385A>C (p.Ala8795=) c.26373A>C (p.Ala8791=) c.26223A>C (p.Ala8741=) c.24663A>C (p.Ala8221=) c.24156A>C (p.Ala8052=) c.19623A>C (p.Ala6541=) c.26361A>C (p.Ala8787=) c.26310A>C (p.Ala8770=) c.26274A>C (p.Ala8758=) c.26121A>C (p.Ala8707=) | |
6 | g.152122590G>A | CA366089010 | ESR1,SYNE1 | c.2774C>T (p.Ala925Val) c.26240C>T (p.Ala8747Val) c.26096C>T (p.Ala8699Val) c.1583C>T c.1958C>T c.1825C>T c.2090C>T (n.2090C>T) c.25025C>T (p.Ala8342Val) n.2988C>T c.5016C>T (n.5016C>T) n.9932C>T c.4119C>T (n.4119C>T) n.9824C>T c.851-2676G>A (n.851-2676G>A) n.2854C>T n.6877C>T c.2705C>T (p.Ala902Val) c.26387C>T (p.Ala8796Val) c.26375C>T (p.Ala8792Val) c.26366C>T (p.Ala8789Val) c.26345C>T (p.Ala8782Val) c.26336C>T (p.Ala8779Val) c.26330C>T (p.Ala8777Val) c.26318C>T (p.Ala8773Val) c.26315C>T (p.Ala8772Val) c.26276C>T (p.Ala8759Val) c.26261C>T (p.Ala8754Val) c.26246C>T (p.Ala8749Val) c.26234C>T (p.Ala8745Val) c.26231C>T (p.Ala8744Val) c.26228C>T (p.Ala8743Val) c.*51C>T (n.*51C>T) c.26384C>T (p.Ala8795Val) c.26372C>T (p.Ala8791Val) c.26222C>T (p.Ala8741Val) c.24662C>T (p.Ala8221Val) c.24155C>T (p.Ala8052Val) c.19622C>T (p.Ala6541Val) c.26360C>T (p.Ala8787Val) c.26309C>T (p.Ala8770Val) c.26273C>T (p.Ala8758Val) c.26120C>T (p.Ala8707Val) | |
6 | g.152122590G>C | CA366089007 | ESR1,SYNE1 | c.2774C>G (p.Ala925Gly) c.26240C>G (p.Ala8747Gly) c.26096C>G (p.Ala8699Gly) c.1583C>G c.1958C>G c.1825C>G c.2090C>G (n.2090C>G) c.25025C>G (p.Ala8342Gly) n.2988C>G c.5016C>G (n.5016C>G) n.9932C>G c.4119C>G (n.4119C>G) n.9824C>G c.851-2676G>C (n.851-2676G>C) n.2854C>G n.6877C>G c.2705C>G (p.Ala902Gly) c.26387C>G (p.Ala8796Gly) c.26375C>G (p.Ala8792Gly) c.26366C>G (p.Ala8789Gly) c.26345C>G (p.Ala8782Gly) c.26336C>G (p.Ala8779Gly) c.26330C>G (p.Ala8777Gly) c.26318C>G (p.Ala8773Gly) c.26315C>G (p.Ala8772Gly) c.26276C>G (p.Ala8759Gly) c.26261C>G (p.Ala8754Gly) c.26246C>G (p.Ala8749Gly) c.26234C>G (p.Ala8745Gly) c.26231C>G (p.Ala8744Gly) c.26228C>G (p.Ala8743Gly) c.*51C>G (n.*51C>G) c.26384C>G (p.Ala8795Gly) c.26372C>G (p.Ala8791Gly) c.26222C>G (p.Ala8741Gly) c.24662C>G (p.Ala8221Gly) c.24155C>G (p.Ala8052Gly) c.19622C>G (p.Ala6541Gly) c.26360C>G (p.Ala8787Gly) c.26309C>G (p.Ala8770Gly) c.26273C>G (p.Ala8758Gly) c.26120C>G (p.Ala8707Gly) | |
6 | g.152122590G>T | CA366089009 | ESR1,SYNE1 | c.2774C>A (p.Ala925Glu) c.26240C>A (p.Ala8747Glu) c.26096C>A (p.Ala8699Glu) c.1583C>A c.1958C>A c.1825C>A c.2090C>A (n.2090C>A) c.25025C>A (p.Ala8342Glu) n.2988C>A c.5016C>A (n.5016C>A) n.9932C>A c.4119C>A (n.4119C>A) n.9824C>A c.851-2676G>T (n.851-2676G>T) n.2854C>A n.6877C>A c.2705C>A (p.Ala902Glu) c.26387C>A (p.Ala8796Glu) c.26375C>A (p.Ala8792Glu) c.26366C>A (p.Ala8789Glu) c.26345C>A (p.Ala8782Glu) c.26336C>A (p.Ala8779Glu) c.26330C>A (p.Ala8777Glu) c.26318C>A (p.Ala8773Glu) c.26315C>A (p.Ala8772Glu) c.26276C>A (p.Ala8759Glu) c.26261C>A (p.Ala8754Glu) c.26246C>A (p.Ala8749Glu) c.26234C>A (p.Ala8745Glu) c.26231C>A (p.Ala8744Glu) c.26228C>A (p.Ala8743Glu) c.*51C>A (n.*51C>A) c.26384C>A (p.Ala8795Glu) c.26372C>A (p.Ala8791Glu) c.26222C>A (p.Ala8741Glu) c.24662C>A (p.Ala8221Glu) c.24155C>A (p.Ala8052Glu) c.19622C>A (p.Ala6541Glu) c.26360C>A (p.Ala8787Glu) c.26309C>A (p.Ala8770Glu) c.26273C>A (p.Ala8758Glu) c.26120C>A (p.Ala8707Glu) | |
6 | g.152122591C>A | CA366089013 | ESR1,SYNE1 | c.2773G>T (p.Ala925Ser) c.26239G>T (p.Ala8747Ser) c.26095G>T (p.Ala8699Ser) c.1582G>T c.1957G>T c.1824G>T c.2089G>T (n.2089G>T) c.25024G>T (p.Ala8342Ser) n.2987G>T c.5015G>T (n.5015G>T) n.9931G>T c.4118G>T (n.4118G>T) n.9823G>T c.851-2675C>A (n.851-2675C>A) n.2853G>T n.6876G>T c.2704G>T (p.Ala902Ser) c.26386G>T (p.Ala8796Ser) c.26374G>T (p.Ala8792Ser) c.26365G>T (p.Ala8789Ser) c.26344G>T (p.Ala8782Ser) c.26335G>T (p.Ala8779Ser) c.26329G>T (p.Ala8777Ser) c.26317G>T (p.Ala8773Ser) c.26314G>T (p.Ala8772Ser) c.26275G>T (p.Ala8759Ser) c.26260G>T (p.Ala8754Ser) c.26245G>T (p.Ala8749Ser) c.26233G>T (p.Ala8745Ser) c.26230G>T (p.Ala8744Ser) c.26227G>T (p.Ala8743Ser) c.*50G>T (n.*50G>T) c.26383G>T (p.Ala8795Ser) c.26371G>T (p.Ala8791Ser) c.26221G>T (p.Ala8741Ser) c.24661G>T (p.Ala8221Ser) c.24154G>T (p.Ala8052Ser) c.19621G>T (p.Ala6541Ser) c.26359G>T (p.Ala8787Ser) c.26308G>T (p.Ala8770Ser) c.26272G>T (p.Ala8758Ser) c.26119G>T (p.Ala8707Ser) | |
6 | g.152122591C>G | CA366089014 | ESR1,SYNE1 | c.2773G>C (p.Ala925Pro) c.26239G>C (p.Ala8747Pro) c.26095G>C (p.Ala8699Pro) c.1582G>C c.1957G>C c.1824G>C c.2089G>C (n.2089G>C) c.25024G>C (p.Ala8342Pro) n.2987G>C c.5015G>C (n.5015G>C) n.9931G>C c.4118G>C (n.4118G>C) n.9823G>C c.851-2675C>G (n.851-2675C>G) n.2853G>C n.6876G>C c.2704G>C (p.Ala902Pro) c.26386G>C (p.Ala8796Pro) c.26374G>C (p.Ala8792Pro) c.26365G>C (p.Ala8789Pro) c.26344G>C (p.Ala8782Pro) c.26335G>C (p.Ala8779Pro) c.26329G>C (p.Ala8777Pro) c.26317G>C (p.Ala8773Pro) c.26314G>C (p.Ala8772Pro) c.26275G>C (p.Ala8759Pro) c.26260G>C (p.Ala8754Pro) c.26245G>C (p.Ala8749Pro) c.26233G>C (p.Ala8745Pro) c.26230G>C (p.Ala8744Pro) c.26227G>C (p.Ala8743Pro) c.*50G>C (n.*50G>C) c.26383G>C (p.Ala8795Pro) c.26371G>C (p.Ala8791Pro) c.26221G>C (p.Ala8741Pro) c.24661G>C (p.Ala8221Pro) c.24154G>C (p.Ala8052Pro) c.19621G>C (p.Ala6541Pro) c.26359G>C (p.Ala8787Pro) c.26308G>C (p.Ala8770Pro) c.26272G>C (p.Ala8758Pro) c.26119G>C (p.Ala8707Pro) | |
6 | g.152122591C>T | CA366089016 | ESR1,SYNE1 | c.2773G>A (p.Ala925Thr) c.26239G>A (p.Ala8747Thr) c.26095G>A (p.Ala8699Thr) c.1582G>A c.1957G>A c.1824G>A c.2089G>A (n.2089G>A) c.25024G>A (p.Ala8342Thr) n.2987G>A c.5015G>A (n.5015G>A) n.9931G>A c.4118G>A (n.4118G>A) n.9823G>A c.851-2675C>T (n.851-2675C>T) n.2853G>A n.6876G>A c.2704G>A (p.Ala902Thr) c.26386G>A (p.Ala8796Thr) c.26374G>A (p.Ala8792Thr) c.26365G>A (p.Ala8789Thr) c.26344G>A (p.Ala8782Thr) c.26335G>A (p.Ala8779Thr) c.26329G>A (p.Ala8777Thr) c.26317G>A (p.Ala8773Thr) c.26314G>A (p.Ala8772Thr) c.26275G>A (p.Ala8759Thr) c.26260G>A (p.Ala8754Thr) c.26245G>A (p.Ala8749Thr) c.26233G>A (p.Ala8745Thr) c.26230G>A (p.Ala8744Thr) c.26227G>A (p.Ala8743Thr) c.*50G>A (n.*50G>A) c.26383G>A (p.Ala8795Thr) c.26371G>A (p.Ala8791Thr) c.26221G>A (p.Ala8741Thr) c.24661G>A (p.Ala8221Thr) c.24154G>A (p.Ala8052Thr) c.19621G>A (p.Ala6541Thr) c.26359G>A (p.Ala8787Thr) c.26308G>A (p.Ala8770Thr) c.26272G>A (p.Ala8758Thr) c.26119G>A (p.Ala8707Thr) | gnomAD v4 |
6 | g.152122592T>A | CA452969608 | ESR1,SYNE1 | c.2772A>T (p.Arg924=) c.26238A>T (p.Arg8746=) c.26094A>T (p.Arg8698=) c.1581A>T c.1956A>T c.1823A>T c.2088A>T (n.2088A>T) c.25023A>T (p.Arg8341=) n.2986A>T c.5014A>T (n.5014A>T) n.9930A>T c.4117A>T (n.4117A>T) n.9822A>T c.851-2674T>A (n.851-2674T>A) n.2852A>T n.6875A>T c.2703A>T (p.Arg901=) c.26385A>T (p.Arg8795=) c.26373A>T (p.Arg8791=) c.26364A>T (p.Arg8788=) c.26343A>T (p.Arg8781=) c.26334A>T (p.Arg8778=) c.26328A>T (p.Arg8776=) c.26316A>T (p.Arg8772=) c.26313A>T (p.Arg8771=) c.26274A>T (p.Arg8758=) c.26259A>T (p.Arg8753=) c.26244A>T (p.Arg8748=) c.26232A>T (p.Arg8744=) c.26229A>T (p.Arg8743=) c.26226A>T (p.Arg8742=) c.*49A>T (n.*49A>T) c.26382A>T (p.Arg8794=) c.26370A>T (p.Arg8790=) c.26220A>T (p.Arg8740=) c.24660A>T (p.Arg8220=) c.24153A>T (p.Arg8051=) c.19620A>T (p.Arg6540=) c.26358A>T (p.Arg8786=) c.26307A>T (p.Arg8769=) c.26271A>T (p.Arg8757=) c.26118A>T (p.Arg8706=) | |
6 | g.152122592T>C | CA452969609 | ESR1,SYNE1 | c.2772A>G (p.Arg924=) c.26238A>G (p.Arg8746=) c.26094A>G (p.Arg8698=) c.1581A>G c.1956A>G c.1823A>G c.2088A>G (n.2088A>G) c.25023A>G (p.Arg8341=) n.2986A>G c.5014A>G (n.5014A>G) n.9930A>G c.4117A>G (n.4117A>G) n.9822A>G c.851-2674T>C (n.851-2674T>C) n.2852A>G n.6875A>G c.2703A>G (p.Arg901=) c.26385A>G (p.Arg8795=) c.26373A>G (p.Arg8791=) c.26364A>G (p.Arg8788=) c.26343A>G (p.Arg8781=) c.26334A>G (p.Arg8778=) c.26328A>G (p.Arg8776=) c.26316A>G (p.Arg8772=) c.26313A>G (p.Arg8771=) c.26274A>G (p.Arg8758=) c.26259A>G (p.Arg8753=) c.26244A>G (p.Arg8748=) c.26232A>G (p.Arg8744=) c.26229A>G (p.Arg8743=) c.26226A>G (p.Arg8742=) c.*49A>G (n.*49A>G) c.26382A>G (p.Arg8794=) c.26370A>G (p.Arg8790=) c.26220A>G (p.Arg8740=) c.24660A>G (p.Arg8220=) c.24153A>G (p.Arg8051=) c.19620A>G (p.Arg6540=) c.26358A>G (p.Arg8786=) c.26307A>G (p.Arg8769=) c.26271A>G (p.Arg8757=) c.26118A>G (p.Arg8706=) | |
6 | g.152122592T>G | CA452969610 | ESR1,SYNE1 | c.2772A>C (p.Arg924=) c.26238A>C (p.Arg8746=) c.26094A>C (p.Arg8698=) c.1581A>C c.1956A>C c.1823A>C c.2088A>C (n.2088A>C) c.25023A>C (p.Arg8341=) n.2986A>C c.5014A>C (n.5014A>C) n.9930A>C c.4117A>C (n.4117A>C) n.9822A>C c.851-2674T>G (n.851-2674T>G) n.2852A>C n.6875A>C c.2703A>C (p.Arg901=) c.26385A>C (p.Arg8795=) c.26373A>C (p.Arg8791=) c.26364A>C (p.Arg8788=) c.26343A>C (p.Arg8781=) c.26334A>C (p.Arg8778=) c.26328A>C (p.Arg8776=) c.26316A>C (p.Arg8772=) c.26313A>C (p.Arg8771=) c.26274A>C (p.Arg8758=) c.26259A>C (p.Arg8753=) c.26244A>C (p.Arg8748=) c.26232A>C (p.Arg8744=) c.26229A>C (p.Arg8743=) c.26226A>C (p.Arg8742=) c.*49A>C (n.*49A>C) c.26382A>C (p.Arg8794=) c.26370A>C (p.Arg8790=) c.26220A>C (p.Arg8740=) c.24660A>C (p.Arg8220=) c.24153A>C (p.Arg8051=) c.19620A>C (p.Arg6540=) c.26358A>C (p.Arg8786=) c.26307A>C (p.Arg8769=) c.26271A>C (p.Arg8757=) c.26118A>C (p.Arg8706=) | |
6 | g.152122593C>A | CA366089019 | ESR1,SYNE1 | c.2771G>T (p.Arg924Leu) c.26237G>T (p.Arg8746Leu) c.26093G>T (p.Arg8698Leu) c.1580G>T c.1955G>T c.1822G>T c.2087G>T (n.2087G>T) c.25022G>T (p.Arg8341Leu) n.2985G>T c.5013G>T (n.5013G>T) n.9929G>T c.4116G>T (n.4116G>T) n.9821G>T c.851-2673C>A (n.851-2673C>A) n.2851G>T n.6874G>T c.2702G>T (p.Arg901Leu) c.26384G>T (p.Arg8795Leu) c.26372G>T (p.Arg8791Leu) c.26363G>T (p.Arg8788Leu) c.26342G>T (p.Arg8781Leu) c.26333G>T (p.Arg8778Leu) c.26327G>T (p.Arg8776Leu) c.26315G>T (p.Arg8772Leu) c.26312G>T (p.Arg8771Leu) c.26273G>T (p.Arg8758Leu) c.26258G>T (p.Arg8753Leu) c.26243G>T (p.Arg8748Leu) c.26231G>T (p.Arg8744Leu) c.26228G>T (p.Arg8743Leu) c.26225G>T (p.Arg8742Leu) c.*48G>T (n.*48G>T) c.26381G>T (p.Arg8794Leu) c.26369G>T (p.Arg8790Leu) c.26219G>T (p.Arg8740Leu) c.24659G>T (p.Arg8220Leu) c.24152G>T (p.Arg8051Leu) c.19619G>T (p.Arg6540Leu) c.26357G>T (p.Arg8786Leu) c.26306G>T (p.Arg8769Leu) c.26270G>T (p.Arg8757Leu) c.26117G>T (p.Arg8706Leu) | gnomAD v4 |
6 | g.152122593C= | CA1673189047 | ESR1,SYNE1 | c.2771G= (p.Arg924=) c.26237G= (p.Arg8746=) c.26093G= (p.Arg8698=) c.1580G= c.1955G= c.1822G= c.2087G= (n.2087G=) c.25022G= (p.Arg8341=) n.2985G= c.5013G= (n.5013G=) n.9929G= c.4116G= (n.4116G=) n.9821G= c.851-2673C= (n.851-2673C=) n.2851G= n.6874G= c.2702G= (p.Arg901=) c.26384G= (p.Arg8795=) c.26372G= (p.Arg8791=) c.26363G= (p.Arg8788=) c.26342G= (p.Arg8781=) c.26333G= (p.Arg8778=) c.26327G= (p.Arg8776=) c.26315G= (p.Arg8772=) c.26312G= (p.Arg8771=) c.26273G= (p.Arg8758=) c.26258G= (p.Arg8753=) c.26243G= (p.Arg8748=) c.26231G= (p.Arg8744=) c.26228G= (p.Arg8743=) c.26225G= (p.Arg8742=) c.*48G= (n.*48G=) c.26381G= (p.Arg8794=) c.26369G= (p.Arg8790=) c.26219G= (p.Arg8740=) c.24659G= (p.Arg8220=) c.24152G= (p.Arg8051=) c.19619G= (p.Arg6540=) c.26357G= (p.Arg8786=) c.26306G= (p.Arg8769=) c.26270G= (p.Arg8757=) c.26117G= (p.Arg8706=) | |
6 | g.152122593C>G | CA4052599 | ESR1,SYNE1 | c.2771G>C (p.Arg924Pro) c.26237G>C (p.Arg8746Pro) c.26093G>C (p.Arg8698Pro) c.1580G>C c.1955G>C c.1822G>C c.2087G>C (n.2087G>C) c.25022G>C (p.Arg8341Pro) n.2985G>C c.5013G>C (n.5013G>C) n.9929G>C c.4116G>C (n.4116G>C) n.9821G>C c.851-2673C>G (n.851-2673C>G) n.2851G>C n.6874G>C c.2702G>C (p.Arg901Pro) c.26384G>C (p.Arg8795Pro) c.26372G>C (p.Arg8791Pro) c.26363G>C (p.Arg8788Pro) c.26342G>C (p.Arg8781Pro) c.26333G>C (p.Arg8778Pro) c.26327G>C (p.Arg8776Pro) c.26315G>C (p.Arg8772Pro) c.26312G>C (p.Arg8771Pro) c.26273G>C (p.Arg8758Pro) c.26258G>C (p.Arg8753Pro) c.26243G>C (p.Arg8748Pro) c.26231G>C (p.Arg8744Pro) c.26228G>C (p.Arg8743Pro) c.26225G>C (p.Arg8742Pro) c.*48G>C (n.*48G>C) c.26381G>C (p.Arg8794Pro) c.26369G>C (p.Arg8790Pro) c.26219G>C (p.Arg8740Pro) c.24659G>C (p.Arg8220Pro) c.24152G>C (p.Arg8051Pro) c.19619G>C (p.Arg6540Pro) c.26357G>C (p.Arg8786Pro) c.26306G>C (p.Arg8769Pro) c.26270G>C (p.Arg8757Pro) c.26117G>C (p.Arg8706Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122593C>T | CA4052598 | ESR1,SYNE1 | c.2771G>A (p.Arg924Gln) c.26237G>A (p.Arg8746Gln) c.26093G>A (p.Arg8698Gln) c.1580G>A c.1955G>A c.1822G>A c.2087G>A (n.2087G>A) c.25022G>A (p.Arg8341Gln) n.2985G>A c.5013G>A (n.5013G>A) n.9929G>A c.4116G>A (n.4116G>A) n.9821G>A c.851-2673C>T (n.851-2673C>T) n.2851G>A n.6874G>A c.2702G>A (p.Arg901Gln) c.26384G>A (p.Arg8795Gln) c.26372G>A (p.Arg8791Gln) c.26363G>A (p.Arg8788Gln) c.26342G>A (p.Arg8781Gln) c.26333G>A (p.Arg8778Gln) c.26327G>A (p.Arg8776Gln) c.26315G>A (p.Arg8772Gln) c.26312G>A (p.Arg8771Gln) c.26273G>A (p.Arg8758Gln) c.26258G>A (p.Arg8753Gln) c.26243G>A (p.Arg8748Gln) c.26231G>A (p.Arg8744Gln) c.26228G>A (p.Arg8743Gln) c.26225G>A (p.Arg8742Gln) c.*48G>A (n.*48G>A) c.26381G>A (p.Arg8794Gln) c.26369G>A (p.Arg8790Gln) c.26219G>A (p.Arg8740Gln) c.24659G>A (p.Arg8220Gln) c.24152G>A (p.Arg8051Gln) c.19619G>A (p.Arg6540Gln) c.26357G>A (p.Arg8786Gln) c.26306G>A (p.Arg8769Gln) c.26270G>A (p.Arg8757Gln) c.26117G>A (p.Arg8706Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122594G>A | CA4052600 | ESR1,SYNE1 | c.2770C>T (p.Arg924Ter) c.26236C>T (p.Arg8746Ter) c.26092C>T (p.Arg8698Ter) c.1579C>T c.1954C>T c.1821C>T c.2086C>T (n.2086C>T) c.25021C>T (p.Arg8341Ter) n.2984C>T c.5012C>T (n.5012C>T) n.9928C>T c.4115C>T (n.4115C>T) n.9820C>T c.851-2672G>A (n.851-2672G>A) n.2850C>T n.6873C>T c.2701C>T (p.Arg901Ter) c.26383C>T (p.Arg8795Ter) c.26371C>T (p.Arg8791Ter) c.26362C>T (p.Arg8788Ter) c.26341C>T (p.Arg8781Ter) c.26332C>T (p.Arg8778Ter) c.26326C>T (p.Arg8776Ter) c.26314C>T (p.Arg8772Ter) c.26311C>T (p.Arg8771Ter) c.26272C>T (p.Arg8758Ter) c.26257C>T (p.Arg8753Ter) c.26242C>T (p.Arg8748Ter) c.26230C>T (p.Arg8744Ter) c.26227C>T (p.Arg8743Ter) c.26224C>T (p.Arg8742Ter) c.*47C>T (n.*47C>T) c.26380C>T (p.Arg8794Ter) c.26368C>T (p.Arg8790Ter) c.26218C>T (p.Arg8740Ter) c.24658C>T (p.Arg8220Ter) c.24151C>T (p.Arg8051Ter) c.19618C>T (p.Arg6540Ter) c.26356C>T (p.Arg8786Ter) c.26305C>T (p.Arg8769Ter) c.26269C>T (p.Arg8757Ter) c.26116C>T (p.Arg8706Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122594G>C | CA366089023 | ESR1,SYNE1 | c.2770C>G (p.Arg924Gly) c.26236C>G (p.Arg8746Gly) c.26092C>G (p.Arg8698Gly) c.1579C>G c.1954C>G c.1821C>G c.2086C>G (n.2086C>G) c.25021C>G (p.Arg8341Gly) n.2984C>G c.5012C>G (n.5012C>G) n.9928C>G c.4115C>G (n.4115C>G) n.9820C>G c.851-2672G>C (n.851-2672G>C) n.2850C>G n.6873C>G c.2701C>G (p.Arg901Gly) c.26383C>G (p.Arg8795Gly) c.26371C>G (p.Arg8791Gly) c.26362C>G (p.Arg8788Gly) c.26341C>G (p.Arg8781Gly) c.26332C>G (p.Arg8778Gly) c.26326C>G (p.Arg8776Gly) c.26314C>G (p.Arg8772Gly) c.26311C>G (p.Arg8771Gly) c.26272C>G (p.Arg8758Gly) c.26257C>G (p.Arg8753Gly) c.26242C>G (p.Arg8748Gly) c.26230C>G (p.Arg8744Gly) c.26227C>G (p.Arg8743Gly) c.26224C>G (p.Arg8742Gly) c.*47C>G (n.*47C>G) c.26380C>G (p.Arg8794Gly) c.26368C>G (p.Arg8790Gly) c.26218C>G (p.Arg8740Gly) c.24658C>G (p.Arg8220Gly) c.24151C>G (p.Arg8051Gly) c.19618C>G (p.Arg6540Gly) c.26356C>G (p.Arg8786Gly) c.26305C>G (p.Arg8769Gly) c.26269C>G (p.Arg8757Gly) c.26116C>G (p.Arg8706Gly) | |
6 | g.152122594G= | CA1673189057 | ESR1,SYNE1 | c.2770C= (p.Arg924=) c.26236C= (p.Arg8746=) c.26092C= (p.Arg8698=) c.1579C= c.1954C= c.1821C= c.2086C= (n.2086C=) c.25021C= (p.Arg8341=) n.2984C= c.5012C= (n.5012C=) n.9928C= c.4115C= (n.4115C=) n.9820C= c.851-2672G= (n.851-2672G=) n.2850C= n.6873C= c.2701C= (p.Arg901=) c.26383C= (p.Arg8795=) c.26371C= (p.Arg8791=) c.26362C= (p.Arg8788=) c.26341C= (p.Arg8781=) c.26332C= (p.Arg8778=) c.26326C= (p.Arg8776=) c.26314C= (p.Arg8772=) c.26311C= (p.Arg8771=) c.26272C= (p.Arg8758=) c.26257C= (p.Arg8753=) c.26242C= (p.Arg8748=) c.26230C= (p.Arg8744=) c.26227C= (p.Arg8743=) c.26224C= (p.Arg8742=) c.*47C= (n.*47C=) c.26380C= (p.Arg8794=) c.26368C= (p.Arg8790=) c.26218C= (p.Arg8740=) c.24658C= (p.Arg8220=) c.24151C= (p.Arg8051=) c.19618C= (p.Arg6540=) c.26356C= (p.Arg8786=) c.26305C= (p.Arg8769=) c.26269C= (p.Arg8757=) c.26116C= (p.Arg8706=) | |
6 | g.152122594G>T | CA452969613 | ESR1,SYNE1 | c.2770C>A (p.Arg924=) c.26236C>A (p.Arg8746=) c.26092C>A (p.Arg8698=) c.1579C>A c.1954C>A c.1821C>A c.2086C>A (n.2086C>A) c.25021C>A (p.Arg8341=) n.2984C>A c.5012C>A (n.5012C>A) n.9928C>A c.4115C>A (n.4115C>A) n.9820C>A c.851-2672G>T (n.851-2672G>T) n.2850C>A n.6873C>A c.2701C>A (p.Arg901=) c.26383C>A (p.Arg8795=) c.26371C>A (p.Arg8791=) c.26362C>A (p.Arg8788=) c.26341C>A (p.Arg8781=) c.26332C>A (p.Arg8778=) c.26326C>A (p.Arg8776=) c.26314C>A (p.Arg8772=) c.26311C>A (p.Arg8771=) c.26272C>A (p.Arg8758=) c.26257C>A (p.Arg8753=) c.26242C>A (p.Arg8748=) c.26230C>A (p.Arg8744=) c.26227C>A (p.Arg8743=) c.26224C>A (p.Arg8742=) c.*47C>A (n.*47C>A) c.26380C>A (p.Arg8794=) c.26368C>A (p.Arg8790=) c.26218C>A (p.Arg8740=) c.24658C>A (p.Arg8220=) c.24151C>A (p.Arg8051=) c.19618C>A (p.Arg6540=) c.26356C>A (p.Arg8786=) c.26305C>A (p.Arg8769=) c.26269C>A (p.Arg8757=) c.26116C>A (p.Arg8706=) | |
6 | g.152122595G>A | CA452969615 | ESR1,SYNE1 | c.2769C>T (p.Leu923=) c.26235C>T (p.Leu8745=) c.26091C>T (p.Leu8697=) c.1578C>T c.1953C>T c.1820C>T c.2085C>T (n.2085C>T) c.25020C>T (p.Leu8340=) n.2983C>T c.5011C>T (n.5011C>T) n.9927C>T c.4114C>T (n.4114C>T) n.9819C>T c.851-2671G>A (n.851-2671G>A) n.2849C>T n.6872C>T c.2700C>T (p.Leu900=) c.26382C>T (p.Leu8794=) c.26370C>T (p.Leu8790=) c.26361C>T (p.Leu8787=) c.26340C>T (p.Leu8780=) c.26331C>T (p.Leu8777=) c.26325C>T (p.Leu8775=) c.26313C>T (p.Leu8771=) c.26310C>T (p.Leu8770=) c.26271C>T (p.Leu8757=) c.26256C>T (p.Leu8752=) c.26241C>T (p.Leu8747=) c.26229C>T (p.Leu8743=) c.26226C>T (p.Leu8742=) c.26223C>T (p.Leu8741=) c.*46C>T (n.*46C>T) c.26379C>T (p.Leu8793=) c.26367C>T (p.Leu8789=) c.26217C>T (p.Leu8739=) c.24657C>T (p.Leu8219=) c.24150C>T (p.Leu8050=) c.19617C>T (p.Leu6539=) c.26355C>T (p.Leu8785=) c.26304C>T (p.Leu8768=) c.26268C>T (p.Leu8756=) c.26115C>T (p.Leu8705=) | dbSNP gnomAD v4 |
6 | g.152122595G>C | CA452969616 | ESR1,SYNE1 | c.2769C>G (p.Leu923=) c.26235C>G (p.Leu8745=) c.26091C>G (p.Leu8697=) c.1578C>G c.1953C>G c.1820C>G c.2085C>G (n.2085C>G) c.25020C>G (p.Leu8340=) n.2983C>G c.5011C>G (n.5011C>G) n.9927C>G c.4114C>G (n.4114C>G) n.9819C>G c.851-2671G>C (n.851-2671G>C) n.2849C>G n.6872C>G c.2700C>G (p.Leu900=) c.26382C>G (p.Leu8794=) c.26370C>G (p.Leu8790=) c.26361C>G (p.Leu8787=) c.26340C>G (p.Leu8780=) c.26331C>G (p.Leu8777=) c.26325C>G (p.Leu8775=) c.26313C>G (p.Leu8771=) c.26310C>G (p.Leu8770=) c.26271C>G (p.Leu8757=) c.26256C>G (p.Leu8752=) c.26241C>G (p.Leu8747=) c.26229C>G (p.Leu8743=) c.26226C>G (p.Leu8742=) c.26223C>G (p.Leu8741=) c.*46C>G (n.*46C>G) c.26379C>G (p.Leu8793=) c.26367C>G (p.Leu8789=) c.26217C>G (p.Leu8739=) c.24657C>G (p.Leu8219=) c.24150C>G (p.Leu8050=) c.19617C>G (p.Leu6539=) c.26355C>G (p.Leu8785=) c.26304C>G (p.Leu8768=) c.26268C>G (p.Leu8756=) c.26115C>G (p.Leu8705=) | |
6 | g.152122595G= | CA1673189060 | ESR1,SYNE1 | c.2769C= (p.Leu923=) c.26235C= (p.Leu8745=) c.26091C= (p.Leu8697=) c.1578C= c.1953C= c.1820C= c.2085C= (n.2085C=) c.25020C= (p.Leu8340=) n.2983C= c.5011C= (n.5011C=) n.9927C= c.4114C= (n.4114C=) n.9819C= c.851-2671G= (n.851-2671G=) n.2849C= n.6872C= c.2700C= (p.Leu900=) c.26382C= (p.Leu8794=) c.26370C= (p.Leu8790=) c.26361C= (p.Leu8787=) c.26340C= (p.Leu8780=) c.26331C= (p.Leu8777=) c.26325C= (p.Leu8775=) c.26313C= (p.Leu8771=) c.26310C= (p.Leu8770=) c.26271C= (p.Leu8757=) c.26256C= (p.Leu8752=) c.26241C= (p.Leu8747=) c.26229C= (p.Leu8743=) c.26226C= (p.Leu8742=) c.26223C= (p.Leu8741=) c.*46C= (n.*46C=) c.26379C= (p.Leu8793=) c.26367C= (p.Leu8789=) c.26217C= (p.Leu8739=) c.24657C= (p.Leu8219=) c.24150C= (p.Leu8050=) c.19617C= (p.Leu6539=) c.26355C= (p.Leu8785=) c.26304C= (p.Leu8768=) c.26268C= (p.Leu8756=) c.26115C= (p.Leu8705=) | |
6 | g.152122595G>T | CA452969617 | ESR1,SYNE1 | c.2769C>A (p.Leu923=) c.26235C>A (p.Leu8745=) c.26091C>A (p.Leu8697=) c.1578C>A c.1953C>A c.1820C>A c.2085C>A (n.2085C>A) c.25020C>A (p.Leu8340=) n.2983C>A c.5011C>A (n.5011C>A) n.9927C>A c.4114C>A (n.4114C>A) n.9819C>A c.851-2671G>T (n.851-2671G>T) n.2849C>A n.6872C>A c.2700C>A (p.Leu900=) c.26382C>A (p.Leu8794=) c.26370C>A (p.Leu8790=) c.26361C>A (p.Leu8787=) c.26340C>A (p.Leu8780=) c.26331C>A (p.Leu8777=) c.26325C>A (p.Leu8775=) c.26313C>A (p.Leu8771=) c.26310C>A (p.Leu8770=) c.26271C>A (p.Leu8757=) c.26256C>A (p.Leu8752=) c.26241C>A (p.Leu8747=) c.26229C>A (p.Leu8743=) c.26226C>A (p.Leu8742=) c.26223C>A (p.Leu8741=) c.*46C>A (n.*46C>A) c.26379C>A (p.Leu8793=) c.26367C>A (p.Leu8789=) c.26217C>A (p.Leu8739=) c.24657C>A (p.Leu8219=) c.24150C>A (p.Leu8050=) c.19617C>A (p.Leu6539=) c.26355C>A (p.Leu8785=) c.26304C>A (p.Leu8768=) c.26268C>A (p.Leu8756=) c.26115C>A (p.Leu8705=) | |
6 | g.152122596A>C | CA366089025 | ESR1,SYNE1 | c.2768T>G (p.Leu923Arg) c.26234T>G (p.Leu8745Arg) c.26090T>G (p.Leu8697Arg) c.1577T>G c.1952T>G c.1819T>G c.2084T>G (n.2084T>G) c.25019T>G (p.Leu8340Arg) n.2982T>G c.5010T>G (n.5010T>G) n.9926T>G c.4113T>G (n.4113T>G) n.9818T>G c.851-2670A>C (n.851-2670A>C) n.2848T>G n.6871T>G c.2699T>G (p.Leu900Arg) c.26381T>G (p.Leu8794Arg) c.26369T>G (p.Leu8790Arg) c.26360T>G (p.Leu8787Arg) c.26339T>G (p.Leu8780Arg) c.26330T>G (p.Leu8777Arg) c.26324T>G (p.Leu8775Arg) c.26312T>G (p.Leu8771Arg) c.26309T>G (p.Leu8770Arg) c.26270T>G (p.Leu8757Arg) c.26255T>G (p.Leu8752Arg) c.26240T>G (p.Leu8747Arg) c.26228T>G (p.Leu8743Arg) c.26225T>G (p.Leu8742Arg) c.26222T>G (p.Leu8741Arg) c.*45T>G (n.*45T>G) c.26378T>G (p.Leu8793Arg) c.26366T>G (p.Leu8789Arg) c.26216T>G (p.Leu8739Arg) c.24656T>G (p.Leu8219Arg) c.24149T>G (p.Leu8050Arg) c.19616T>G (p.Leu6539Arg) c.26354T>G (p.Leu8785Arg) c.26303T>G (p.Leu8768Arg) c.26267T>G (p.Leu8756Arg) c.26114T>G (p.Leu8705Arg) | |
6 | g.152122596A>G | CA366089027 | ESR1,SYNE1 | c.2768T>C (p.Leu923Pro) c.26234T>C (p.Leu8745Pro) c.26090T>C (p.Leu8697Pro) c.1577T>C c.1952T>C c.1819T>C c.2084T>C (n.2084T>C) c.25019T>C (p.Leu8340Pro) n.2982T>C c.5010T>C (n.5010T>C) n.9926T>C c.4113T>C (n.4113T>C) n.9818T>C c.851-2670A>G (n.851-2670A>G) n.2848T>C n.6871T>C c.2699T>C (p.Leu900Pro) c.26381T>C (p.Leu8794Pro) c.26369T>C (p.Leu8790Pro) c.26360T>C (p.Leu8787Pro) c.26339T>C (p.Leu8780Pro) c.26330T>C (p.Leu8777Pro) c.26324T>C (p.Leu8775Pro) c.26312T>C (p.Leu8771Pro) c.26309T>C (p.Leu8770Pro) c.26270T>C (p.Leu8757Pro) c.26255T>C (p.Leu8752Pro) c.26240T>C (p.Leu8747Pro) c.26228T>C (p.Leu8743Pro) c.26225T>C (p.Leu8742Pro) c.26222T>C (p.Leu8741Pro) c.*45T>C (n.*45T>C) c.26378T>C (p.Leu8793Pro) c.26366T>C (p.Leu8789Pro) c.26216T>C (p.Leu8739Pro) c.24656T>C (p.Leu8219Pro) c.24149T>C (p.Leu8050Pro) c.19616T>C (p.Leu6539Pro) c.26354T>C (p.Leu8785Pro) c.26303T>C (p.Leu8768Pro) c.26267T>C (p.Leu8756Pro) c.26114T>C (p.Leu8705Pro) | |
6 | g.152122596A>T | CA366089028 | ESR1,SYNE1 | c.2768T>A (p.Leu923His) c.26234T>A (p.Leu8745His) c.26090T>A (p.Leu8697His) c.1577T>A c.1952T>A c.1819T>A c.2084T>A (n.2084T>A) c.25019T>A (p.Leu8340His) n.2982T>A c.5010T>A (n.5010T>A) n.9926T>A c.4113T>A (n.4113T>A) n.9818T>A c.851-2670A>T (n.851-2670A>T) n.2848T>A n.6871T>A c.2699T>A (p.Leu900His) c.26381T>A (p.Leu8794His) c.26369T>A (p.Leu8790His) c.26360T>A (p.Leu8787His) c.26339T>A (p.Leu8780His) c.26330T>A (p.Leu8777His) c.26324T>A (p.Leu8775His) c.26312T>A (p.Leu8771His) c.26309T>A (p.Leu8770His) c.26270T>A (p.Leu8757His) c.26255T>A (p.Leu8752His) c.26240T>A (p.Leu8747His) c.26228T>A (p.Leu8743His) c.26225T>A (p.Leu8742His) c.26222T>A (p.Leu8741His) c.*45T>A (n.*45T>A) c.26378T>A (p.Leu8793His) c.26366T>A (p.Leu8789His) c.26216T>A (p.Leu8739His) c.24656T>A (p.Leu8219His) c.24149T>A (p.Leu8050His) c.19616T>A (p.Leu6539His) c.26354T>A (p.Leu8785His) c.26303T>A (p.Leu8768His) c.26267T>A (p.Leu8756His) c.26114T>A (p.Leu8705His) | |
6 | g.152122597G>A | CA366089034 | ESR1,SYNE1 | c.2767C>T (p.Leu923Phe) c.26233C>T (p.Leu8745Phe) c.26089C>T (p.Leu8697Phe) c.1576C>T c.1951C>T c.1818C>T c.2083C>T (n.2083C>T) c.25018C>T (p.Leu8340Phe) n.2981C>T c.5009C>T (n.5009C>T) n.9925C>T c.4112C>T (n.4112C>T) n.9817C>T c.851-2669G>A (n.851-2669G>A) n.2847C>T n.6870C>T c.2698C>T (p.Leu900Phe) c.26380C>T (p.Leu8794Phe) c.26368C>T (p.Leu8790Phe) c.26359C>T (p.Leu8787Phe) c.26338C>T (p.Leu8780Phe) c.26329C>T (p.Leu8777Phe) c.26323C>T (p.Leu8775Phe) c.26311C>T (p.Leu8771Phe) c.26308C>T (p.Leu8770Phe) c.26269C>T (p.Leu8757Phe) c.26254C>T (p.Leu8752Phe) c.26239C>T (p.Leu8747Phe) c.26227C>T (p.Leu8743Phe) c.26224C>T (p.Leu8742Phe) c.26221C>T (p.Leu8741Phe) c.*44C>T (n.*44C>T) c.26377C>T (p.Leu8793Phe) c.26365C>T (p.Leu8789Phe) c.26215C>T (p.Leu8739Phe) c.24655C>T (p.Leu8219Phe) c.24148C>T (p.Leu8050Phe) c.19615C>T (p.Leu6539Phe) c.26353C>T (p.Leu8785Phe) c.26302C>T (p.Leu8768Phe) c.26266C>T (p.Leu8756Phe) c.26113C>T (p.Leu8705Phe) | |
6 | g.152122597G>C | CA366089032 | ESR1,SYNE1 | c.2767C>G (p.Leu923Val) c.26233C>G (p.Leu8745Val) c.26089C>G (p.Leu8697Val) c.1576C>G c.1951C>G c.1818C>G c.2083C>G (n.2083C>G) c.25018C>G (p.Leu8340Val) n.2981C>G c.5009C>G (n.5009C>G) n.9925C>G c.4112C>G (n.4112C>G) n.9817C>G c.851-2669G>C (n.851-2669G>C) n.2847C>G n.6870C>G c.2698C>G (p.Leu900Val) c.26380C>G (p.Leu8794Val) c.26368C>G (p.Leu8790Val) c.26359C>G (p.Leu8787Val) c.26338C>G (p.Leu8780Val) c.26329C>G (p.Leu8777Val) c.26323C>G (p.Leu8775Val) c.26311C>G (p.Leu8771Val) c.26308C>G (p.Leu8770Val) c.26269C>G (p.Leu8757Val) c.26254C>G (p.Leu8752Val) c.26239C>G (p.Leu8747Val) c.26227C>G (p.Leu8743Val) c.26224C>G (p.Leu8742Val) c.26221C>G (p.Leu8741Val) c.*44C>G (n.*44C>G) c.26377C>G (p.Leu8793Val) c.26365C>G (p.Leu8789Val) c.26215C>G (p.Leu8739Val) c.24655C>G (p.Leu8219Val) c.24148C>G (p.Leu8050Val) c.19615C>G (p.Leu6539Val) c.26353C>G (p.Leu8785Val) c.26302C>G (p.Leu8768Val) c.26266C>G (p.Leu8756Val) c.26113C>G (p.Leu8705Val) | gnomAD v4 |
6 | g.152122597G>T | CA366089031 | ESR1,SYNE1 | c.2767C>A (p.Leu923Ile) c.26233C>A (p.Leu8745Ile) c.26089C>A (p.Leu8697Ile) c.1576C>A c.1951C>A c.1818C>A c.2083C>A (n.2083C>A) c.25018C>A (p.Leu8340Ile) n.2981C>A c.5009C>A (n.5009C>A) n.9925C>A c.4112C>A (n.4112C>A) n.9817C>A c.851-2669G>T (n.851-2669G>T) n.2847C>A n.6870C>A c.2698C>A (p.Leu900Ile) c.26380C>A (p.Leu8794Ile) c.26368C>A (p.Leu8790Ile) c.26359C>A (p.Leu8787Ile) c.26338C>A (p.Leu8780Ile) c.26329C>A (p.Leu8777Ile) c.26323C>A (p.Leu8775Ile) c.26311C>A (p.Leu8771Ile) c.26308C>A (p.Leu8770Ile) c.26269C>A (p.Leu8757Ile) c.26254C>A (p.Leu8752Ile) c.26239C>A (p.Leu8747Ile) c.26227C>A (p.Leu8743Ile) c.26224C>A (p.Leu8742Ile) c.26221C>A (p.Leu8741Ile) c.*44C>A (n.*44C>A) c.26377C>A (p.Leu8793Ile) c.26365C>A (p.Leu8789Ile) c.26215C>A (p.Leu8739Ile) c.24655C>A (p.Leu8219Ile) c.24148C>A (p.Leu8050Ile) c.19615C>A (p.Leu6539Ile) c.26353C>A (p.Leu8785Ile) c.26302C>A (p.Leu8768Ile) c.26266C>A (p.Leu8756Ile) c.26113C>A (p.Leu8705Ile) | |
6 | g.152122598G>A | CA452969621 | ESR1,SYNE1 | c.2766C>T (p.Val922=) c.26232C>T (p.Val8744=) c.26088C>T (p.Val8696=) c.1575C>T c.1950C>T c.1817C>T c.2082C>T (n.2082C>T) c.25017C>T (p.Val8339=) n.2980C>T c.5008C>T (n.5008C>T) n.9924C>T c.4111C>T (n.4111C>T) n.9816C>T c.851-2668G>A (n.851-2668G>A) n.2846C>T n.6869C>T c.2697C>T (p.Val899=) c.26379C>T (p.Val8793=) c.26367C>T (p.Val8789=) c.26358C>T (p.Val8786=) c.26337C>T (p.Val8779=) c.26328C>T (p.Val8776=) c.26322C>T (p.Val8774=) c.26310C>T (p.Val8770=) c.26307C>T (p.Val8769=) c.26268C>T (p.Val8756=) c.26253C>T (p.Val8751=) c.26238C>T (p.Val8746=) c.26226C>T (p.Val8742=) c.26223C>T (p.Val8741=) c.26220C>T (p.Val8740=) c.*43C>T (n.*43C>T) c.26376C>T (p.Val8792=) c.26364C>T (p.Val8788=) c.26214C>T (p.Val8738=) c.24654C>T (p.Val8218=) c.24147C>T (p.Val8049=) c.19614C>T (p.Val6538=) c.26352C>T (p.Val8784=) c.26301C>T (p.Val8767=) c.26265C>T (p.Val8755=) c.26112C>T (p.Val8704=) | |
6 | g.152122598G>C | CA452969623 | ESR1,SYNE1 | c.2766C>G (p.Val922=) c.26232C>G (p.Val8744=) c.26088C>G (p.Val8696=) c.1575C>G c.1950C>G c.1817C>G c.2082C>G (n.2082C>G) c.25017C>G (p.Val8339=) n.2980C>G c.5008C>G (n.5008C>G) n.9924C>G c.4111C>G (n.4111C>G) n.9816C>G c.851-2668G>C (n.851-2668G>C) n.2846C>G n.6869C>G c.2697C>G (p.Val899=) c.26379C>G (p.Val8793=) c.26367C>G (p.Val8789=) c.26358C>G (p.Val8786=) c.26337C>G (p.Val8779=) c.26328C>G (p.Val8776=) c.26322C>G (p.Val8774=) c.26310C>G (p.Val8770=) c.26307C>G (p.Val8769=) c.26268C>G (p.Val8756=) c.26253C>G (p.Val8751=) c.26238C>G (p.Val8746=) c.26226C>G (p.Val8742=) c.26223C>G (p.Val8741=) c.26220C>G (p.Val8740=) c.*43C>G (n.*43C>G) c.26376C>G (p.Val8792=) c.26364C>G (p.Val8788=) c.26214C>G (p.Val8738=) c.24654C>G (p.Val8218=) c.24147C>G (p.Val8049=) c.19614C>G (p.Val6538=) c.26352C>G (p.Val8784=) c.26301C>G (p.Val8767=) c.26265C>G (p.Val8755=) c.26112C>G (p.Val8704=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122598G>T | CA452969624 | ESR1,SYNE1 | c.2766C>A (p.Val922=) c.26232C>A (p.Val8744=) c.26088C>A (p.Val8696=) c.1575C>A c.1950C>A c.1817C>A c.2082C>A (n.2082C>A) c.25017C>A (p.Val8339=) n.2980C>A c.5008C>A (n.5008C>A) n.9924C>A c.4111C>A (n.4111C>A) n.9816C>A c.851-2668G>T (n.851-2668G>T) n.2846C>A n.6869C>A c.2697C>A (p.Val899=) c.26379C>A (p.Val8793=) c.26367C>A (p.Val8789=) c.26358C>A (p.Val8786=) c.26337C>A (p.Val8779=) c.26328C>A (p.Val8776=) c.26322C>A (p.Val8774=) c.26310C>A (p.Val8770=) c.26307C>A (p.Val8769=) c.26268C>A (p.Val8756=) c.26253C>A (p.Val8751=) c.26238C>A (p.Val8746=) c.26226C>A (p.Val8742=) c.26223C>A (p.Val8741=) c.26220C>A (p.Val8740=) c.*43C>A (n.*43C>A) c.26376C>A (p.Val8792=) c.26364C>A (p.Val8788=) c.26214C>A (p.Val8738=) c.24654C>A (p.Val8218=) c.24147C>A (p.Val8049=) c.19614C>A (p.Val6538=) c.26352C>A (p.Val8784=) c.26301C>A (p.Val8767=) c.26265C>A (p.Val8755=) c.26112C>A (p.Val8704=) | gnomAD v4 |
6 | g.152122599A>C | CA366089036 | ESR1,SYNE1 | c.2765T>G (p.Val922Gly) c.26231T>G (p.Val8744Gly) c.26087T>G (p.Val8696Gly) c.1574T>G c.1949T>G c.1816T>G c.2081T>G (n.2081T>G) c.25016T>G (p.Val8339Gly) n.2979T>G c.5007T>G (n.5007T>G) n.9923T>G c.4110T>G (n.4110T>G) n.9815T>G c.851-2667A>C (n.851-2667A>C) n.2845T>G n.6868T>G c.2696T>G (p.Val899Gly) c.26378T>G (p.Val8793Gly) c.26366T>G (p.Val8789Gly) c.26357T>G (p.Val8786Gly) c.26336T>G (p.Val8779Gly) c.26327T>G (p.Val8776Gly) c.26321T>G (p.Val8774Gly) c.26309T>G (p.Val8770Gly) c.26306T>G (p.Val8769Gly) c.26267T>G (p.Val8756Gly) c.26252T>G (p.Val8751Gly) c.26237T>G (p.Val8746Gly) c.26225T>G (p.Val8742Gly) c.26222T>G (p.Val8741Gly) c.26219T>G (p.Val8740Gly) c.*42T>G (n.*42T>G) c.26375T>G (p.Val8792Gly) c.26363T>G (p.Val8788Gly) c.26213T>G (p.Val8738Gly) c.24653T>G (p.Val8218Gly) c.24146T>G (p.Val8049Gly) c.19613T>G (p.Val6538Gly) c.26351T>G (p.Val8784Gly) c.26300T>G (p.Val8767Gly) c.26264T>G (p.Val8755Gly) c.26111T>G (p.Val8704Gly) | |
6 | g.152122599A>G | CA366089038 | ESR1,SYNE1 | c.2765T>C (p.Val922Ala) c.26231T>C (p.Val8744Ala) c.26087T>C (p.Val8696Ala) c.1574T>C c.1949T>C c.1816T>C c.2081T>C (n.2081T>C) c.25016T>C (p.Val8339Ala) n.2979T>C c.5007T>C (n.5007T>C) n.9923T>C c.4110T>C (n.4110T>C) n.9815T>C c.851-2667A>G (n.851-2667A>G) n.2845T>C n.6868T>C c.2696T>C (p.Val899Ala) c.26378T>C (p.Val8793Ala) c.26366T>C (p.Val8789Ala) c.26357T>C (p.Val8786Ala) c.26336T>C (p.Val8779Ala) c.26327T>C (p.Val8776Ala) c.26321T>C (p.Val8774Ala) c.26309T>C (p.Val8770Ala) c.26306T>C (p.Val8769Ala) c.26267T>C (p.Val8756Ala) c.26252T>C (p.Val8751Ala) c.26237T>C (p.Val8746Ala) c.26225T>C (p.Val8742Ala) c.26222T>C (p.Val8741Ala) c.26219T>C (p.Val8740Ala) c.*42T>C (n.*42T>C) c.26375T>C (p.Val8792Ala) c.26363T>C (p.Val8788Ala) c.26213T>C (p.Val8738Ala) c.24653T>C (p.Val8218Ala) c.24146T>C (p.Val8049Ala) c.19613T>C (p.Val6538Ala) c.26351T>C (p.Val8784Ala) c.26300T>C (p.Val8767Ala) c.26264T>C (p.Val8755Ala) c.26111T>C (p.Val8704Ala) | |
6 | g.152122599A>T | CA366089040 | ESR1,SYNE1 | c.2765T>A (p.Val922Asp) c.26231T>A (p.Val8744Asp) c.26087T>A (p.Val8696Asp) c.1574T>A c.1949T>A c.1816T>A c.2081T>A (n.2081T>A) c.25016T>A (p.Val8339Asp) n.2979T>A c.5007T>A (n.5007T>A) n.9923T>A c.4110T>A (n.4110T>A) n.9815T>A c.851-2667A>T (n.851-2667A>T) n.2845T>A n.6868T>A c.2696T>A (p.Val899Asp) c.26378T>A (p.Val8793Asp) c.26366T>A (p.Val8789Asp) c.26357T>A (p.Val8786Asp) c.26336T>A (p.Val8779Asp) c.26327T>A (p.Val8776Asp) c.26321T>A (p.Val8774Asp) c.26309T>A (p.Val8770Asp) c.26306T>A (p.Val8769Asp) c.26267T>A (p.Val8756Asp) c.26252T>A (p.Val8751Asp) c.26237T>A (p.Val8746Asp) c.26225T>A (p.Val8742Asp) c.26222T>A (p.Val8741Asp) c.26219T>A (p.Val8740Asp) c.*42T>A (n.*42T>A) c.26375T>A (p.Val8792Asp) c.26363T>A (p.Val8788Asp) c.26213T>A (p.Val8738Asp) c.24653T>A (p.Val8218Asp) c.24146T>A (p.Val8049Asp) c.19613T>A (p.Val6538Asp) c.26351T>A (p.Val8784Asp) c.26300T>A (p.Val8767Asp) c.26264T>A (p.Val8755Asp) c.26111T>A (p.Val8704Asp) | |
6 | g.152122600C>A | CA366089042 | ESR1,SYNE1 | c.2764G>T (p.Val922Phe) c.26230G>T (p.Val8744Phe) c.26086G>T (p.Val8696Phe) c.1573G>T c.1948G>T c.1815G>T c.2080G>T (n.2080G>T) c.25015G>T (p.Val8339Phe) n.2978G>T c.5006G>T (n.5006G>T) n.9922G>T c.4109G>T (n.4109G>T) n.9814G>T c.851-2666C>A (n.851-2666C>A) n.2844G>T n.6867G>T c.2695G>T (p.Val899Phe) c.26377G>T (p.Val8793Phe) c.26365G>T (p.Val8789Phe) c.26356G>T (p.Val8786Phe) c.26335G>T (p.Val8779Phe) c.26326G>T (p.Val8776Phe) c.26320G>T (p.Val8774Phe) c.26308G>T (p.Val8770Phe) c.26305G>T (p.Val8769Phe) c.26266G>T (p.Val8756Phe) c.26251G>T (p.Val8751Phe) c.26236G>T (p.Val8746Phe) c.26224G>T (p.Val8742Phe) c.26221G>T (p.Val8741Phe) c.26218G>T (p.Val8740Phe) c.*41G>T (n.*41G>T) c.26374G>T (p.Val8792Phe) c.26362G>T (p.Val8788Phe) c.26212G>T (p.Val8738Phe) c.24652G>T (p.Val8218Phe) c.24145G>T (p.Val8049Phe) c.19612G>T (p.Val6538Phe) c.26350G>T (p.Val8784Phe) c.26299G>T (p.Val8767Phe) c.26263G>T (p.Val8755Phe) c.26110G>T (p.Val8704Phe) | |
6 | g.152122600C>G | CA366089044 | ESR1,SYNE1 | c.2764G>C (p.Val922Leu) c.26230G>C (p.Val8744Leu) c.26086G>C (p.Val8696Leu) c.1573G>C c.1948G>C c.1815G>C c.2080G>C (n.2080G>C) c.25015G>C (p.Val8339Leu) n.2978G>C c.5006G>C (n.5006G>C) n.9922G>C c.4109G>C (n.4109G>C) n.9814G>C c.851-2666C>G (n.851-2666C>G) n.2844G>C n.6867G>C c.2695G>C (p.Val899Leu) c.26377G>C (p.Val8793Leu) c.26365G>C (p.Val8789Leu) c.26356G>C (p.Val8786Leu) c.26335G>C (p.Val8779Leu) c.26326G>C (p.Val8776Leu) c.26320G>C (p.Val8774Leu) c.26308G>C (p.Val8770Leu) c.26305G>C (p.Val8769Leu) c.26266G>C (p.Val8756Leu) c.26251G>C (p.Val8751Leu) c.26236G>C (p.Val8746Leu) c.26224G>C (p.Val8742Leu) c.26221G>C (p.Val8741Leu) c.26218G>C (p.Val8740Leu) c.*41G>C (n.*41G>C) c.26374G>C (p.Val8792Leu) c.26362G>C (p.Val8788Leu) c.26212G>C (p.Val8738Leu) c.24652G>C (p.Val8218Leu) c.24145G>C (p.Val8049Leu) c.19612G>C (p.Val6538Leu) c.26350G>C (p.Val8784Leu) c.26299G>C (p.Val8767Leu) c.26263G>C (p.Val8755Leu) c.26110G>C (p.Val8704Leu) | |
6 | g.152122600C>T | CA366089046 | ESR1,SYNE1 | c.2764G>A (p.Val922Ile) c.26230G>A (p.Val8744Ile) c.26086G>A (p.Val8696Ile) c.1573G>A c.1948G>A c.1815G>A c.2080G>A (n.2080G>A) c.25015G>A (p.Val8339Ile) n.2978G>A c.5006G>A (n.5006G>A) n.9922G>A c.4109G>A (n.4109G>A) n.9814G>A c.851-2666C>T (n.851-2666C>T) n.2844G>A n.6867G>A c.2695G>A (p.Val899Ile) c.26377G>A (p.Val8793Ile) c.26365G>A (p.Val8789Ile) c.26356G>A (p.Val8786Ile) c.26335G>A (p.Val8779Ile) c.26326G>A (p.Val8776Ile) c.26320G>A (p.Val8774Ile) c.26308G>A (p.Val8770Ile) c.26305G>A (p.Val8769Ile) c.26266G>A (p.Val8756Ile) c.26251G>A (p.Val8751Ile) c.26236G>A (p.Val8746Ile) c.26224G>A (p.Val8742Ile) c.26221G>A (p.Val8741Ile) c.26218G>A (p.Val8740Ile) c.*41G>A (n.*41G>A) c.26374G>A (p.Val8792Ile) c.26362G>A (p.Val8788Ile) c.26212G>A (p.Val8738Ile) c.24652G>A (p.Val8218Ile) c.24145G>A (p.Val8049Ile) c.19612G>A (p.Val6538Ile) c.26350G>A (p.Val8784Ile) c.26299G>A (p.Val8767Ile) c.26263G>A (p.Val8755Ile) c.26110G>A (p.Val8704Ile) | |
6 | g.152122601T>A | CA366089048 | ESR1,SYNE1 | c.2763A>T (p.Arg921Ser) c.26229A>T (p.Arg8743Ser) c.26085A>T (p.Arg8695Ser) c.1572A>T c.1947A>T c.1814A>T c.2079A>T (n.2079A>T) c.25014A>T (p.Arg8338Ser) n.2977A>T c.5005A>T (n.5005A>T) n.9921A>T c.4108A>T (n.4108A>T) n.9813A>T c.851-2665T>A (n.851-2665T>A) n.2843A>T n.6866A>T c.2694A>T (p.Arg898Ser) c.26376A>T (p.Arg8792Ser) c.26364A>T (p.Arg8788Ser) c.26355A>T (p.Arg8785Ser) c.26334A>T (p.Arg8778Ser) c.26325A>T (p.Arg8775Ser) c.26319A>T (p.Arg8773Ser) c.26307A>T (p.Arg8769Ser) c.26304A>T (p.Arg8768Ser) c.26265A>T (p.Arg8755Ser) c.26250A>T (p.Arg8750Ser) c.26235A>T (p.Arg8745Ser) c.26223A>T (p.Arg8741Ser) c.26220A>T (p.Arg8740Ser) c.26217A>T (p.Arg8739Ser) c.*40A>T (n.*40A>T) c.26373A>T (p.Arg8791Ser) c.26361A>T (p.Arg8787Ser) c.26211A>T (p.Arg8737Ser) c.24651A>T (p.Arg8217Ser) c.24144A>T (p.Arg8048Ser) c.19611A>T (p.Arg6537Ser) c.26349A>T (p.Arg8783Ser) c.26298A>T (p.Arg8766Ser) c.26262A>T (p.Arg8754Ser) c.26109A>T (p.Arg8703Ser) | |
6 | g.152122601T>C | CA452969626 | ESR1,SYNE1 | c.2763A>G (p.Arg921=) c.26229A>G (p.Arg8743=) c.26085A>G (p.Arg8695=) c.1572A>G c.1947A>G c.1814A>G c.2079A>G (n.2079A>G) c.25014A>G (p.Arg8338=) n.2977A>G c.5005A>G (n.5005A>G) n.9921A>G c.4108A>G (n.4108A>G) n.9813A>G c.851-2665T>C (n.851-2665T>C) n.2843A>G n.6866A>G c.2694A>G (p.Arg898=) c.26376A>G (p.Arg8792=) c.26364A>G (p.Arg8788=) c.26355A>G (p.Arg8785=) c.26334A>G (p.Arg8778=) c.26325A>G (p.Arg8775=) c.26319A>G (p.Arg8773=) c.26307A>G (p.Arg8769=) c.26304A>G (p.Arg8768=) c.26265A>G (p.Arg8755=) c.26250A>G (p.Arg8750=) c.26235A>G (p.Arg8745=) c.26223A>G (p.Arg8741=) c.26220A>G (p.Arg8740=) c.26217A>G (p.Arg8739=) c.*40A>G (n.*40A>G) c.26373A>G (p.Arg8791=) c.26361A>G (p.Arg8787=) c.26211A>G (p.Arg8737=) c.24651A>G (p.Arg8217=) c.24144A>G (p.Arg8048=) c.19611A>G (p.Arg6537=) c.26349A>G (p.Arg8783=) c.26298A>G (p.Arg8766=) c.26262A>G (p.Arg8754=) c.26109A>G (p.Arg8703=) | |
6 | g.152122601T>G | CA366089049 | ESR1,SYNE1 | c.2763A>C (p.Arg921Ser) c.26229A>C (p.Arg8743Ser) c.26085A>C (p.Arg8695Ser) c.1572A>C c.1947A>C c.1814A>C c.2079A>C (n.2079A>C) c.25014A>C (p.Arg8338Ser) n.2977A>C c.5005A>C (n.5005A>C) n.9921A>C c.4108A>C (n.4108A>C) n.9813A>C c.851-2665T>G (n.851-2665T>G) n.2843A>C n.6866A>C c.2694A>C (p.Arg898Ser) c.26376A>C (p.Arg8792Ser) c.26364A>C (p.Arg8788Ser) c.26355A>C (p.Arg8785Ser) c.26334A>C (p.Arg8778Ser) c.26325A>C (p.Arg8775Ser) c.26319A>C (p.Arg8773Ser) c.26307A>C (p.Arg8769Ser) c.26304A>C (p.Arg8768Ser) c.26265A>C (p.Arg8755Ser) c.26250A>C (p.Arg8750Ser) c.26235A>C (p.Arg8745Ser) c.26223A>C (p.Arg8741Ser) c.26220A>C (p.Arg8740Ser) c.26217A>C (p.Arg8739Ser) c.*40A>C (n.*40A>C) c.26373A>C (p.Arg8791Ser) c.26361A>C (p.Arg8787Ser) c.26211A>C (p.Arg8737Ser) c.24651A>C (p.Arg8217Ser) c.24144A>C (p.Arg8048Ser) c.19611A>C (p.Arg6537Ser) c.26349A>C (p.Arg8783Ser) c.26298A>C (p.Arg8766Ser) c.26262A>C (p.Arg8754Ser) c.26109A>C (p.Arg8703Ser) | |
6 | g.152122602C>A | CA366089050 | ESR1,SYNE1 | c.2762G>T (p.Arg921Ile) c.26228G>T (p.Arg8743Ile) c.26084G>T (p.Arg8695Ile) c.1571G>T c.1946G>T c.1813G>T c.2078G>T (n.2078G>T) c.25013G>T (p.Arg8338Ile) n.2976G>T c.5004G>T (n.5004G>T) n.9920G>T c.4107G>T (n.4107G>T) n.9812G>T c.851-2664C>A (n.851-2664C>A) n.2842G>T n.6865G>T c.2693G>T (p.Arg898Ile) c.26375G>T (p.Arg8792Ile) c.26363G>T (p.Arg8788Ile) c.26354G>T (p.Arg8785Ile) c.26333G>T (p.Arg8778Ile) c.26324G>T (p.Arg8775Ile) c.26318G>T (p.Arg8773Ile) c.26306G>T (p.Arg8769Ile) c.26303G>T (p.Arg8768Ile) c.26264G>T (p.Arg8755Ile) c.26249G>T (p.Arg8750Ile) c.26234G>T (p.Arg8745Ile) c.26222G>T (p.Arg8741Ile) c.26219G>T (p.Arg8740Ile) c.26216G>T (p.Arg8739Ile) c.*39G>T (n.*39G>T) c.26372G>T (p.Arg8791Ile) c.26360G>T (p.Arg8787Ile) c.26210G>T (p.Arg8737Ile) c.24650G>T (p.Arg8217Ile) c.24143G>T (p.Arg8048Ile) c.19610G>T (p.Arg6537Ile) c.26348G>T (p.Arg8783Ile) c.26297G>T (p.Arg8766Ile) c.26261G>T (p.Arg8754Ile) c.26108G>T (p.Arg8703Ile) | |
6 | g.152122602C>G | CA366089052 | ESR1,SYNE1 | c.2762G>C (p.Arg921Thr) c.26228G>C (p.Arg8743Thr) c.26084G>C (p.Arg8695Thr) c.1571G>C c.1946G>C c.1813G>C c.2078G>C (n.2078G>C) c.25013G>C (p.Arg8338Thr) n.2976G>C c.5004G>C (n.5004G>C) n.9920G>C c.4107G>C (n.4107G>C) n.9812G>C c.851-2664C>G (n.851-2664C>G) n.2842G>C n.6865G>C c.2693G>C (p.Arg898Thr) c.26375G>C (p.Arg8792Thr) c.26363G>C (p.Arg8788Thr) c.26354G>C (p.Arg8785Thr) c.26333G>C (p.Arg8778Thr) c.26324G>C (p.Arg8775Thr) c.26318G>C (p.Arg8773Thr) c.26306G>C (p.Arg8769Thr) c.26303G>C (p.Arg8768Thr) c.26264G>C (p.Arg8755Thr) c.26249G>C (p.Arg8750Thr) c.26234G>C (p.Arg8745Thr) c.26222G>C (p.Arg8741Thr) c.26219G>C (p.Arg8740Thr) c.26216G>C (p.Arg8739Thr) c.*39G>C (n.*39G>C) c.26372G>C (p.Arg8791Thr) c.26360G>C (p.Arg8787Thr) c.26210G>C (p.Arg8737Thr) c.24650G>C (p.Arg8217Thr) c.24143G>C (p.Arg8048Thr) c.19610G>C (p.Arg6537Thr) c.26348G>C (p.Arg8783Thr) c.26297G>C (p.Arg8766Thr) c.26261G>C (p.Arg8754Thr) c.26108G>C (p.Arg8703Thr) | |
6 | g.152122602C>T | CA366089053 | ESR1,SYNE1 | c.2762G>A (p.Arg921Lys) c.26228G>A (p.Arg8743Lys) c.26084G>A (p.Arg8695Lys) c.1571G>A c.1946G>A c.1813G>A c.2078G>A (n.2078G>A) c.25013G>A (p.Arg8338Lys) n.2976G>A c.5004G>A (n.5004G>A) n.9920G>A c.4107G>A (n.4107G>A) n.9812G>A c.851-2664C>T (n.851-2664C>T) n.2842G>A n.6865G>A c.2693G>A (p.Arg898Lys) c.26375G>A (p.Arg8792Lys) c.26363G>A (p.Arg8788Lys) c.26354G>A (p.Arg8785Lys) c.26333G>A (p.Arg8778Lys) c.26324G>A (p.Arg8775Lys) c.26318G>A (p.Arg8773Lys) c.26306G>A (p.Arg8769Lys) c.26303G>A (p.Arg8768Lys) c.26264G>A (p.Arg8755Lys) c.26249G>A (p.Arg8750Lys) c.26234G>A (p.Arg8745Lys) c.26222G>A (p.Arg8741Lys) c.26219G>A (p.Arg8740Lys) c.26216G>A (p.Arg8739Lys) c.*39G>A (n.*39G>A) c.26372G>A (p.Arg8791Lys) c.26360G>A (p.Arg8787Lys) c.26210G>A (p.Arg8737Lys) c.24650G>A (p.Arg8217Lys) c.24143G>A (p.Arg8048Lys) c.19610G>A (p.Arg6537Lys) c.26348G>A (p.Arg8783Lys) c.26297G>A (p.Arg8766Lys) c.26261G>A (p.Arg8754Lys) c.26108G>A (p.Arg8703Lys) | |
6 | g.152122603T>A | CA366089055 | ESR1,SYNE1 | c.2761A>T (p.Arg921Ter) c.26227A>T (p.Arg8743Ter) c.26083A>T (p.Arg8695Ter) c.1570A>T c.1945A>T c.1812A>T c.2077A>T (n.2077A>T) c.25012A>T (p.Arg8338Ter) n.2975A>T c.5003A>T (n.5003A>T) n.9919A>T c.4106A>T (n.4106A>T) n.9811A>T c.851-2663T>A (n.851-2663T>A) n.2841A>T n.6864A>T c.2692A>T (p.Arg898Ter) c.26374A>T (p.Arg8792Ter) c.26362A>T (p.Arg8788Ter) c.26353A>T (p.Arg8785Ter) c.26332A>T (p.Arg8778Ter) c.26323A>T (p.Arg8775Ter) c.26317A>T (p.Arg8773Ter) c.26305A>T (p.Arg8769Ter) c.26302A>T (p.Arg8768Ter) c.26263A>T (p.Arg8755Ter) c.26248A>T (p.Arg8750Ter) c.26233A>T (p.Arg8745Ter) c.26221A>T (p.Arg8741Ter) c.26218A>T (p.Arg8740Ter) c.26215A>T (p.Arg8739Ter) c.*38A>T (n.*38A>T) c.26371A>T (p.Arg8791Ter) c.26359A>T (p.Arg8787Ter) c.26209A>T (p.Arg8737Ter) c.24649A>T (p.Arg8217Ter) c.24142A>T (p.Arg8048Ter) c.19609A>T (p.Arg6537Ter) c.26347A>T (p.Arg8783Ter) c.26296A>T (p.Arg8766Ter) c.26260A>T (p.Arg8754Ter) c.26107A>T (p.Arg8703Ter) | |
6 | g.152122603T>C | CA366089057 | ESR1,SYNE1 | c.2761A>G (p.Arg921Gly) c.26227A>G (p.Arg8743Gly) c.26083A>G (p.Arg8695Gly) c.1570A>G c.1945A>G c.1812A>G c.2077A>G (n.2077A>G) c.25012A>G (p.Arg8338Gly) n.2975A>G c.5003A>G (n.5003A>G) n.9919A>G c.4106A>G (n.4106A>G) n.9811A>G c.851-2663T>C (n.851-2663T>C) n.2841A>G n.6864A>G c.2692A>G (p.Arg898Gly) c.26374A>G (p.Arg8792Gly) c.26362A>G (p.Arg8788Gly) c.26353A>G (p.Arg8785Gly) c.26332A>G (p.Arg8778Gly) c.26323A>G (p.Arg8775Gly) c.26317A>G (p.Arg8773Gly) c.26305A>G (p.Arg8769Gly) c.26302A>G (p.Arg8768Gly) c.26263A>G (p.Arg8755Gly) c.26248A>G (p.Arg8750Gly) c.26233A>G (p.Arg8745Gly) c.26221A>G (p.Arg8741Gly) c.26218A>G (p.Arg8740Gly) c.26215A>G (p.Arg8739Gly) c.*38A>G (n.*38A>G) c.26371A>G (p.Arg8791Gly) c.26359A>G (p.Arg8787Gly) c.26209A>G (p.Arg8737Gly) c.24649A>G (p.Arg8217Gly) c.24142A>G (p.Arg8048Gly) c.19609A>G (p.Arg6537Gly) c.26347A>G (p.Arg8783Gly) c.26296A>G (p.Arg8766Gly) c.26260A>G (p.Arg8754Gly) c.26107A>G (p.Arg8703Gly) | |
6 | g.152122603T>G | CA452969629 | ESR1,SYNE1 | c.2761A>C (p.Arg921=) c.26227A>C (p.Arg8743=) c.26083A>C (p.Arg8695=) c.1570A>C c.1945A>C c.1812A>C c.2077A>C (n.2077A>C) c.25012A>C (p.Arg8338=) n.2975A>C c.5003A>C (n.5003A>C) n.9919A>C c.4106A>C (n.4106A>C) n.9811A>C c.851-2663T>G (n.851-2663T>G) n.2841A>C n.6864A>C c.2692A>C (p.Arg898=) c.26374A>C (p.Arg8792=) c.26362A>C (p.Arg8788=) c.26353A>C (p.Arg8785=) c.26332A>C (p.Arg8778=) c.26323A>C (p.Arg8775=) c.26317A>C (p.Arg8773=) c.26305A>C (p.Arg8769=) c.26302A>C (p.Arg8768=) c.26263A>C (p.Arg8755=) c.26248A>C (p.Arg8750=) c.26233A>C (p.Arg8745=) c.26221A>C (p.Arg8741=) c.26218A>C (p.Arg8740=) c.26215A>C (p.Arg8739=) c.*38A>C (n.*38A>C) c.26371A>C (p.Arg8791=) c.26359A>C (p.Arg8787=) c.26209A>C (p.Arg8737=) c.24649A>C (p.Arg8217=) c.24142A>C (p.Arg8048=) c.19609A>C (p.Arg6537=) c.26347A>C (p.Arg8783=) c.26296A>C (p.Arg8766=) c.26260A>C (p.Arg8754=) c.26107A>C (p.Arg8703=) | |
6 | g.152122604G>A | CA452969630 | ESR1,SYNE1 | c.2760C>T (p.Phe920=) c.26226C>T (p.Phe8742=) c.26082C>T (p.Phe8694=) c.1569C>T c.1944C>T c.1811C>T c.2076C>T (n.2076C>T) c.25011C>T (p.Phe8337=) n.2974C>T c.5002C>T (n.5002C>T) n.9918C>T c.4105C>T (n.4105C>T) n.9810C>T c.851-2662G>A (n.851-2662G>A) n.2840C>T n.6863C>T c.2691C>T (p.Phe897=) c.26373C>T (p.Phe8791=) c.26361C>T (p.Phe8787=) c.26352C>T (p.Phe8784=) c.26331C>T (p.Phe8777=) c.26322C>T (p.Phe8774=) c.26316C>T (p.Phe8772=) c.26304C>T (p.Phe8768=) c.26301C>T (p.Phe8767=) c.26262C>T (p.Phe8754=) c.26247C>T (p.Phe8749=) c.26232C>T (p.Phe8744=) c.26220C>T (p.Phe8740=) c.26217C>T (p.Phe8739=) c.26214C>T (p.Phe8738=) c.*37C>T (n.*37C>T) c.26370C>T (p.Phe8790=) c.26358C>T (p.Phe8786=) c.26208C>T (p.Phe8736=) c.24648C>T (p.Phe8216=) c.24141C>T (p.Phe8047=) c.19608C>T (p.Phe6536=) c.26346C>T (p.Phe8782=) c.26295C>T (p.Phe8765=) c.26259C>T (p.Phe8753=) c.26106C>T (p.Phe8702=) | |
6 | g.152122604G>C | CA366089061 | ESR1,SYNE1 | c.2760C>G (p.Phe920Leu) c.26226C>G (p.Phe8742Leu) c.26082C>G (p.Phe8694Leu) c.1569C>G c.1944C>G c.1811C>G c.2076C>G (n.2076C>G) c.25011C>G (p.Phe8337Leu) n.2974C>G c.5002C>G (n.5002C>G) n.9918C>G c.4105C>G (n.4105C>G) n.9810C>G c.851-2662G>C (n.851-2662G>C) n.2840C>G n.6863C>G c.2691C>G (p.Phe897Leu) c.26373C>G (p.Phe8791Leu) c.26361C>G (p.Phe8787Leu) c.26352C>G (p.Phe8784Leu) c.26331C>G (p.Phe8777Leu) c.26322C>G (p.Phe8774Leu) c.26316C>G (p.Phe8772Leu) c.26304C>G (p.Phe8768Leu) c.26301C>G (p.Phe8767Leu) c.26262C>G (p.Phe8754Leu) c.26247C>G (p.Phe8749Leu) c.26232C>G (p.Phe8744Leu) c.26220C>G (p.Phe8740Leu) c.26217C>G (p.Phe8739Leu) c.26214C>G (p.Phe8738Leu) c.*37C>G (n.*37C>G) c.26370C>G (p.Phe8790Leu) c.26358C>G (p.Phe8786Leu) c.26208C>G (p.Phe8736Leu) c.24648C>G (p.Phe8216Leu) c.24141C>G (p.Phe8047Leu) c.19608C>G (p.Phe6536Leu) c.26346C>G (p.Phe8782Leu) c.26295C>G (p.Phe8765Leu) c.26259C>G (p.Phe8753Leu) c.26106C>G (p.Phe8702Leu) | |
6 | g.152122604G>T | CA366089059 | ESR1,SYNE1 | c.2760C>A (p.Phe920Leu) c.26226C>A (p.Phe8742Leu) c.26082C>A (p.Phe8694Leu) c.1569C>A c.1944C>A c.1811C>A c.2076C>A (n.2076C>A) c.25011C>A (p.Phe8337Leu) n.2974C>A c.5002C>A (n.5002C>A) n.9918C>A c.4105C>A (n.4105C>A) n.9810C>A c.851-2662G>T (n.851-2662G>T) n.2840C>A n.6863C>A c.2691C>A (p.Phe897Leu) c.26373C>A (p.Phe8791Leu) c.26361C>A (p.Phe8787Leu) c.26352C>A (p.Phe8784Leu) c.26331C>A (p.Phe8777Leu) c.26322C>A (p.Phe8774Leu) c.26316C>A (p.Phe8772Leu) c.26304C>A (p.Phe8768Leu) c.26301C>A (p.Phe8767Leu) c.26262C>A (p.Phe8754Leu) c.26247C>A (p.Phe8749Leu) c.26232C>A (p.Phe8744Leu) c.26220C>A (p.Phe8740Leu) c.26217C>A (p.Phe8739Leu) c.26214C>A (p.Phe8738Leu) c.*37C>A (n.*37C>A) c.26370C>A (p.Phe8790Leu) c.26358C>A (p.Phe8786Leu) c.26208C>A (p.Phe8736Leu) c.24648C>A (p.Phe8216Leu) c.24141C>A (p.Phe8047Leu) c.19608C>A (p.Phe6536Leu) c.26346C>A (p.Phe8782Leu) c.26295C>A (p.Phe8765Leu) c.26259C>A (p.Phe8753Leu) c.26106C>A (p.Phe8702Leu) | |
6 | g.152122605A>C | CA366089064 | ESR1,SYNE1 | c.2759T>G (p.Phe920Cys) c.26225T>G (p.Phe8742Cys) c.26081T>G (p.Phe8694Cys) c.1568T>G c.1943T>G c.1810T>G c.2075T>G (n.2075T>G) c.25010T>G (p.Phe8337Cys) n.2973T>G c.5001T>G (n.5001T>G) n.9917T>G c.4104T>G (n.4104T>G) n.9809T>G c.851-2661A>C (n.851-2661A>C) n.2839T>G n.6862T>G n.3003T>G c.2690T>G (p.Phe897Cys) c.26372T>G (p.Phe8791Cys) c.26360T>G (p.Phe8787Cys) c.26351T>G (p.Phe8784Cys) c.26330T>G (p.Phe8777Cys) c.26321T>G (p.Phe8774Cys) c.26315T>G (p.Phe8772Cys) c.26303T>G (p.Phe8768Cys) c.26300T>G (p.Phe8767Cys) c.26261T>G (p.Phe8754Cys) c.26246T>G (p.Phe8749Cys) c.26231T>G (p.Phe8744Cys) c.26219T>G (p.Phe8740Cys) c.26216T>G (p.Phe8739Cys) c.26213T>G (p.Phe8738Cys) c.*36T>G (n.*36T>G) c.26369T>G (p.Phe8790Cys) c.26357T>G (p.Phe8786Cys) c.26207T>G (p.Phe8736Cys) c.24647T>G (p.Phe8216Cys) c.24140T>G (p.Phe8047Cys) c.19607T>G (p.Phe6536Cys) c.26345T>G (p.Phe8782Cys) c.26294T>G (p.Phe8765Cys) c.26258T>G (p.Phe8753Cys) c.26105T>G (p.Phe8702Cys) | |
6 | g.152122605A>G | CA366089065 | ESR1,SYNE1 | c.2759T>C (p.Phe920Ser) c.26225T>C (p.Phe8742Ser) c.26081T>C (p.Phe8694Ser) c.1568T>C c.1943T>C c.1810T>C c.2075T>C (n.2075T>C) c.25010T>C (p.Phe8337Ser) n.2973T>C c.5001T>C (n.5001T>C) n.9917T>C c.4104T>C (n.4104T>C) n.9809T>C c.851-2661A>G (n.851-2661A>G) n.2839T>C n.6862T>C n.3003T>C c.2690T>C (p.Phe897Ser) c.26372T>C (p.Phe8791Ser) c.26360T>C (p.Phe8787Ser) c.26351T>C (p.Phe8784Ser) c.26330T>C (p.Phe8777Ser) c.26321T>C (p.Phe8774Ser) c.26315T>C (p.Phe8772Ser) c.26303T>C (p.Phe8768Ser) c.26300T>C (p.Phe8767Ser) c.26261T>C (p.Phe8754Ser) c.26246T>C (p.Phe8749Ser) c.26231T>C (p.Phe8744Ser) c.26219T>C (p.Phe8740Ser) c.26216T>C (p.Phe8739Ser) c.26213T>C (p.Phe8738Ser) c.*36T>C (n.*36T>C) c.26369T>C (p.Phe8790Ser) c.26357T>C (p.Phe8786Ser) c.26207T>C (p.Phe8736Ser) c.24647T>C (p.Phe8216Ser) c.24140T>C (p.Phe8047Ser) c.19607T>C (p.Phe6536Ser) c.26345T>C (p.Phe8782Ser) c.26294T>C (p.Phe8765Ser) c.26258T>C (p.Phe8753Ser) c.26105T>C (p.Phe8702Ser) | |
6 | g.152122605A>T | CA366089066 | ESR1,SYNE1 | c.2759T>A (p.Phe920Tyr) c.26225T>A (p.Phe8742Tyr) c.26081T>A (p.Phe8694Tyr) c.1568T>A c.1943T>A c.1810T>A c.2075T>A (n.2075T>A) c.25010T>A (p.Phe8337Tyr) n.2973T>A c.5001T>A (n.5001T>A) n.9917T>A c.4104T>A (n.4104T>A) n.9809T>A c.851-2661A>T (n.851-2661A>T) n.2839T>A n.6862T>A n.3003T>A c.2690T>A (p.Phe897Tyr) c.26372T>A (p.Phe8791Tyr) c.26360T>A (p.Phe8787Tyr) c.26351T>A (p.Phe8784Tyr) c.26330T>A (p.Phe8777Tyr) c.26321T>A (p.Phe8774Tyr) c.26315T>A (p.Phe8772Tyr) c.26303T>A (p.Phe8768Tyr) c.26300T>A (p.Phe8767Tyr) c.26261T>A (p.Phe8754Tyr) c.26246T>A (p.Phe8749Tyr) c.26231T>A (p.Phe8744Tyr) c.26219T>A (p.Phe8740Tyr) c.26216T>A (p.Phe8739Tyr) c.26213T>A (p.Phe8738Tyr) c.*36T>A (n.*36T>A) c.26369T>A (p.Phe8790Tyr) c.26357T>A (p.Phe8786Tyr) c.26207T>A (p.Phe8736Tyr) c.24647T>A (p.Phe8216Tyr) c.24140T>A (p.Phe8047Tyr) c.19607T>A (p.Phe6536Tyr) c.26345T>A (p.Phe8782Tyr) c.26294T>A (p.Phe8765Tyr) c.26258T>A (p.Phe8753Tyr) c.26105T>A (p.Phe8702Tyr) | |
6 | g.152122606A>C | CA366089069 | ESR1,SYNE1 | c.2758T>G (p.Phe920Val) c.26224T>G (p.Phe8742Val) c.26080T>G (p.Phe8694Val) c.1567T>G c.1942T>G c.1809T>G c.2074T>G (n.2074T>G) c.25009T>G (p.Phe8337Val) n.2972T>G c.5000T>G (n.5000T>G) n.9916T>G c.4103T>G (n.4103T>G) n.9808T>G c.851-2660A>C (n.851-2660A>C) n.2838T>G n.6861T>G n.3002T>G c.2689T>G (p.Phe897Val) c.26371T>G (p.Phe8791Val) c.26359T>G (p.Phe8787Val) c.26350T>G (p.Phe8784Val) c.26329T>G (p.Phe8777Val) c.26320T>G (p.Phe8774Val) c.26314T>G (p.Phe8772Val) c.26302T>G (p.Phe8768Val) c.26299T>G (p.Phe8767Val) c.26260T>G (p.Phe8754Val) c.26245T>G (p.Phe8749Val) c.26230T>G (p.Phe8744Val) c.26218T>G (p.Phe8740Val) c.26215T>G (p.Phe8739Val) c.26212T>G (p.Phe8738Val) c.*35T>G (n.*35T>G) c.26368T>G (p.Phe8790Val) c.26356T>G (p.Phe8786Val) c.26206T>G (p.Phe8736Val) c.24646T>G (p.Phe8216Val) c.24139T>G (p.Phe8047Val) c.19606T>G (p.Phe6536Val) c.26344T>G (p.Phe8782Val) c.26293T>G (p.Phe8765Val) c.26257T>G (p.Phe8753Val) c.26104T>G (p.Phe8702Val) | |
6 | g.152122606A>G | CA366089071 | ESR1,SYNE1 | c.2758T>C (p.Phe920Leu) c.26224T>C (p.Phe8742Leu) c.26080T>C (p.Phe8694Leu) c.1567T>C c.1942T>C c.1809T>C c.2074T>C (n.2074T>C) c.25009T>C (p.Phe8337Leu) n.2972T>C c.5000T>C (n.5000T>C) n.9916T>C c.4103T>C (n.4103T>C) n.9808T>C c.851-2660A>G (n.851-2660A>G) n.2838T>C n.6861T>C n.3002T>C c.2689T>C (p.Phe897Leu) c.26371T>C (p.Phe8791Leu) c.26359T>C (p.Phe8787Leu) c.26350T>C (p.Phe8784Leu) c.26329T>C (p.Phe8777Leu) c.26320T>C (p.Phe8774Leu) c.26314T>C (p.Phe8772Leu) c.26302T>C (p.Phe8768Leu) c.26299T>C (p.Phe8767Leu) c.26260T>C (p.Phe8754Leu) c.26245T>C (p.Phe8749Leu) c.26230T>C (p.Phe8744Leu) c.26218T>C (p.Phe8740Leu) c.26215T>C (p.Phe8739Leu) c.26212T>C (p.Phe8738Leu) c.*35T>C (n.*35T>C) c.26368T>C (p.Phe8790Leu) c.26356T>C (p.Phe8786Leu) c.26206T>C (p.Phe8736Leu) c.24646T>C (p.Phe8216Leu) c.24139T>C (p.Phe8047Leu) c.19606T>C (p.Phe6536Leu) c.26344T>C (p.Phe8782Leu) c.26293T>C (p.Phe8765Leu) c.26257T>C (p.Phe8753Leu) c.26104T>C (p.Phe8702Leu) | |
6 | g.152122606A>T | CA366089073 | ESR1,SYNE1 | c.2758T>A (p.Phe920Ile) c.26224T>A (p.Phe8742Ile) c.26080T>A (p.Phe8694Ile) c.1567T>A c.1942T>A c.1809T>A c.2074T>A (n.2074T>A) c.25009T>A (p.Phe8337Ile) n.2972T>A c.5000T>A (n.5000T>A) n.9916T>A c.4103T>A (n.4103T>A) n.9808T>A c.851-2660A>T (n.851-2660A>T) n.2838T>A n.6861T>A n.3002T>A c.2689T>A (p.Phe897Ile) c.26371T>A (p.Phe8791Ile) c.26359T>A (p.Phe8787Ile) c.26350T>A (p.Phe8784Ile) c.26329T>A (p.Phe8777Ile) c.26320T>A (p.Phe8774Ile) c.26314T>A (p.Phe8772Ile) c.26302T>A (p.Phe8768Ile) c.26299T>A (p.Phe8767Ile) c.26260T>A (p.Phe8754Ile) c.26245T>A (p.Phe8749Ile) c.26230T>A (p.Phe8744Ile) c.26218T>A (p.Phe8740Ile) c.26215T>A (p.Phe8739Ile) c.26212T>A (p.Phe8738Ile) c.*35T>A (n.*35T>A) c.26368T>A (p.Phe8790Ile) c.26356T>A (p.Phe8786Ile) c.26206T>A (p.Phe8736Ile) c.24646T>A (p.Phe8216Ile) c.24139T>A (p.Phe8047Ile) c.19606T>A (p.Phe6536Ile) c.26344T>A (p.Phe8782Ile) c.26293T>A (p.Phe8765Ile) c.26257T>A (p.Phe8753Ile) c.26104T>A (p.Phe8702Ile) | |
6 | g.152122607C>A | CA452969635 | ESR1,SYNE1 | c.2757G>T (p.Leu919=) c.26223G>T (p.Leu8741=) c.26079G>T (p.Leu8693=) c.1566G>T c.1941G>T c.1808G>T c.2073G>T (n.2073G>T) c.25008G>T (p.Leu8336=) n.2971G>T c.4999G>T (n.4999G>T) n.9915G>T c.4102G>T (n.4102G>T) n.9807G>T c.851-2659C>A (n.851-2659C>A) n.2837G>T n.6860G>T n.3001G>T c.2688G>T (p.Leu896=) c.26370G>T (p.Leu8790=) c.26358G>T (p.Leu8786=) c.26349G>T (p.Leu8783=) c.26328G>T (p.Leu8776=) c.26319G>T (p.Leu8773=) c.26313G>T (p.Leu8771=) c.26301G>T (p.Leu8767=) c.26298G>T (p.Leu8766=) c.26259G>T (p.Leu8753=) c.26244G>T (p.Leu8748=) c.26229G>T (p.Leu8743=) c.26217G>T (p.Leu8739=) c.26214G>T (p.Leu8738=) c.26211G>T (p.Leu8737=) c.*34G>T (n.*34G>T) c.26367G>T (p.Leu8789=) c.26355G>T (p.Leu8785=) c.26205G>T (p.Leu8735=) c.24645G>T (p.Leu8215=) c.24138G>T (p.Leu8046=) c.19605G>T (p.Leu6535=) c.26343G>T (p.Leu8781=) c.26292G>T (p.Leu8764=) c.26256G>T (p.Leu8752=) c.26103G>T (p.Leu8701=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152122607C= | CA1673189064 | ESR1,SYNE1 | c.2757G= (p.Leu919=) c.26223G= (p.Leu8741=) c.26079G= (p.Leu8693=) c.1566G= c.1941G= c.1808G= c.2073G= (n.2073G=) c.25008G= (p.Leu8336=) n.2971G= c.4999G= (n.4999G=) n.9915G= c.4102G= (n.4102G=) n.9807G= c.851-2659C= (n.851-2659C=) n.2837G= n.6860G= n.3001G= c.2688G= (p.Leu896=) c.26370G= (p.Leu8790=) c.26358G= (p.Leu8786=) c.26349G= (p.Leu8783=) c.26328G= (p.Leu8776=) c.26319G= (p.Leu8773=) c.26313G= (p.Leu8771=) c.26301G= (p.Leu8767=) c.26298G= (p.Leu8766=) c.26259G= (p.Leu8753=) c.26244G= (p.Leu8748=) c.26229G= (p.Leu8743=) c.26217G= (p.Leu8739=) c.26214G= (p.Leu8738=) c.26211G= (p.Leu8737=) c.*34G= (n.*34G=) c.26367G= (p.Leu8789=) c.26355G= (p.Leu8785=) c.26205G= (p.Leu8735=) c.24645G= (p.Leu8215=) c.24138G= (p.Leu8046=) c.19605G= (p.Leu6535=) c.26343G= (p.Leu8781=) c.26292G= (p.Leu8764=) c.26256G= (p.Leu8752=) c.26103G= (p.Leu8701=) | |
6 | g.152122607C>G | CA452969636 | ESR1,SYNE1 | c.2757G>C (p.Leu919=) c.26223G>C (p.Leu8741=) c.26079G>C (p.Leu8693=) c.1566G>C c.1941G>C c.1808G>C c.2073G>C (n.2073G>C) c.25008G>C (p.Leu8336=) n.2971G>C c.4999G>C (n.4999G>C) n.9915G>C c.4102G>C (n.4102G>C) n.9807G>C c.851-2659C>G (n.851-2659C>G) n.2837G>C n.6860G>C n.3001G>C c.2688G>C (p.Leu896=) c.26370G>C (p.Leu8790=) c.26358G>C (p.Leu8786=) c.26349G>C (p.Leu8783=) c.26328G>C (p.Leu8776=) c.26319G>C (p.Leu8773=) c.26313G>C (p.Leu8771=) c.26301G>C (p.Leu8767=) c.26298G>C (p.Leu8766=) c.26259G>C (p.Leu8753=) c.26244G>C (p.Leu8748=) c.26229G>C (p.Leu8743=) c.26217G>C (p.Leu8739=) c.26214G>C (p.Leu8738=) c.26211G>C (p.Leu8737=) c.*34G>C (n.*34G>C) c.26367G>C (p.Leu8789=) c.26355G>C (p.Leu8785=) c.26205G>C (p.Leu8735=) c.24645G>C (p.Leu8215=) c.24138G>C (p.Leu8046=) c.19605G>C (p.Leu6535=) c.26343G>C (p.Leu8781=) c.26292G>C (p.Leu8764=) c.26256G>C (p.Leu8752=) c.26103G>C (p.Leu8701=) | |
6 | g.152122607C>T | CA452969637 | ESR1,SYNE1 | c.2757G>A (p.Leu919=) c.26223G>A (p.Leu8741=) c.26079G>A (p.Leu8693=) c.1566G>A c.1941G>A c.1808G>A c.2073G>A (n.2073G>A) c.25008G>A (p.Leu8336=) n.2971G>A c.4999G>A (n.4999G>A) n.9915G>A c.4102G>A (n.4102G>A) n.9807G>A c.851-2659C>T (n.851-2659C>T) n.2837G>A n.6860G>A n.3001G>A c.2688G>A (p.Leu896=) c.26370G>A (p.Leu8790=) c.26358G>A (p.Leu8786=) c.26349G>A (p.Leu8783=) c.26328G>A (p.Leu8776=) c.26319G>A (p.Leu8773=) c.26313G>A (p.Leu8771=) c.26301G>A (p.Leu8767=) c.26298G>A (p.Leu8766=) c.26259G>A (p.Leu8753=) c.26244G>A (p.Leu8748=) c.26229G>A (p.Leu8743=) c.26217G>A (p.Leu8739=) c.26214G>A (p.Leu8738=) c.26211G>A (p.Leu8737=) c.*34G>A (n.*34G>A) c.26367G>A (p.Leu8789=) c.26355G>A (p.Leu8785=) c.26205G>A (p.Leu8735=) c.24645G>A (p.Leu8215=) c.24138G>A (p.Leu8046=) c.19605G>A (p.Leu6535=) c.26343G>A (p.Leu8781=) c.26292G>A (p.Leu8764=) c.26256G>A (p.Leu8752=) c.26103G>A (p.Leu8701=) | dbSNP gnomAD v4 |
6 | g.152122608A>C | CA366089077 | ESR1,SYNE1 | c.2756T>G (p.Leu919Arg) c.26222T>G (p.Leu8741Arg) c.26078T>G (p.Leu8693Arg) c.1565T>G c.1940T>G c.1807T>G c.2072T>G (n.2072T>G) c.25007T>G (p.Leu8336Arg) n.2970T>G c.4998T>G (n.4998T>G) n.9914T>G c.4101T>G (n.4101T>G) n.9806T>G c.851-2658A>C (n.851-2658A>C) n.2836T>G n.6859T>G n.3000T>G c.2687T>G (p.Leu896Arg) c.26369T>G (p.Leu8790Arg) c.26357T>G (p.Leu8786Arg) c.26348T>G (p.Leu8783Arg) c.26327T>G (p.Leu8776Arg) c.26318T>G (p.Leu8773Arg) c.26312T>G (p.Leu8771Arg) c.26300T>G (p.Leu8767Arg) c.26297T>G (p.Leu8766Arg) c.26258T>G (p.Leu8753Arg) c.26243T>G (p.Leu8748Arg) c.26228T>G (p.Leu8743Arg) c.26216T>G (p.Leu8739Arg) c.26213T>G (p.Leu8738Arg) c.26210T>G (p.Leu8737Arg) c.*33T>G (n.*33T>G) c.26366T>G (p.Leu8789Arg) c.26354T>G (p.Leu8785Arg) c.26204T>G (p.Leu8735Arg) c.24644T>G (p.Leu8215Arg) c.24137T>G (p.Leu8046Arg) c.19604T>G (p.Leu6535Arg) c.26342T>G (p.Leu8781Arg) c.26291T>G (p.Leu8764Arg) c.26255T>G (p.Leu8752Arg) c.26102T>G (p.Leu8701Arg) | |
6 | g.152122608A>G | CA366089079 | ESR1,SYNE1 | c.2756T>C (p.Leu919Pro) c.26222T>C (p.Leu8741Pro) c.26078T>C (p.Leu8693Pro) c.1565T>C c.1940T>C c.1807T>C c.2072T>C (n.2072T>C) c.25007T>C (p.Leu8336Pro) n.2970T>C c.4998T>C (n.4998T>C) n.9914T>C c.4101T>C (n.4101T>C) n.9806T>C c.851-2658A>G (n.851-2658A>G) n.2836T>C n.6859T>C n.3000T>C c.2687T>C (p.Leu896Pro) c.26369T>C (p.Leu8790Pro) c.26357T>C (p.Leu8786Pro) c.26348T>C (p.Leu8783Pro) c.26327T>C (p.Leu8776Pro) c.26318T>C (p.Leu8773Pro) c.26312T>C (p.Leu8771Pro) c.26300T>C (p.Leu8767Pro) c.26297T>C (p.Leu8766Pro) c.26258T>C (p.Leu8753Pro) c.26243T>C (p.Leu8748Pro) c.26228T>C (p.Leu8743Pro) c.26216T>C (p.Leu8739Pro) c.26213T>C (p.Leu8738Pro) c.26210T>C (p.Leu8737Pro) c.*33T>C (n.*33T>C) c.26366T>C (p.Leu8789Pro) c.26354T>C (p.Leu8785Pro) c.26204T>C (p.Leu8735Pro) c.24644T>C (p.Leu8215Pro) c.24137T>C (p.Leu8046Pro) c.19604T>C (p.Leu6535Pro) c.26342T>C (p.Leu8781Pro) c.26291T>C (p.Leu8764Pro) c.26255T>C (p.Leu8752Pro) c.26102T>C (p.Leu8701Pro) | |
6 | g.152122608A>T | CA366089081 | ESR1,SYNE1 | c.2756T>A (p.Leu919Gln) c.26222T>A (p.Leu8741Gln) c.26078T>A (p.Leu8693Gln) c.1565T>A c.1940T>A c.1807T>A c.2072T>A (n.2072T>A) c.25007T>A (p.Leu8336Gln) n.2970T>A c.4998T>A (n.4998T>A) n.9914T>A c.4101T>A (n.4101T>A) n.9806T>A c.851-2658A>T (n.851-2658A>T) n.2836T>A n.6859T>A n.3000T>A c.2687T>A (p.Leu896Gln) c.26369T>A (p.Leu8790Gln) c.26357T>A (p.Leu8786Gln) c.26348T>A (p.Leu8783Gln) c.26327T>A (p.Leu8776Gln) c.26318T>A (p.Leu8773Gln) c.26312T>A (p.Leu8771Gln) c.26300T>A (p.Leu8767Gln) c.26297T>A (p.Leu8766Gln) c.26258T>A (p.Leu8753Gln) c.26243T>A (p.Leu8748Gln) c.26228T>A (p.Leu8743Gln) c.26216T>A (p.Leu8739Gln) c.26213T>A (p.Leu8738Gln) c.26210T>A (p.Leu8737Gln) c.*33T>A (n.*33T>A) c.26366T>A (p.Leu8789Gln) c.26354T>A (p.Leu8785Gln) c.26204T>A (p.Leu8735Gln) c.24644T>A (p.Leu8215Gln) c.24137T>A (p.Leu8046Gln) c.19604T>A (p.Leu6535Gln) c.26342T>A (p.Leu8781Gln) c.26291T>A (p.Leu8764Gln) c.26255T>A (p.Leu8752Gln) c.26102T>A (p.Leu8701Gln) | |
6 | g.152122609G>A | CA452969638 | ESR1,SYNE1 | c.2755C>T (p.Leu919=) c.26221C>T (p.Leu8741=) c.26077C>T (p.Leu8693=) c.1564C>T c.1939C>T c.1806C>T c.2071C>T (n.2071C>T) c.25006C>T (p.Leu8336=) n.2969C>T c.4997C>T (n.4997C>T) n.9913C>T c.4100C>T (n.4100C>T) n.9805C>T c.851-2657G>A (n.851-2657G>A) n.2835C>T n.6858C>T n.2999C>T c.2686C>T (p.Leu896=) c.26368C>T (p.Leu8790=) c.26356C>T (p.Leu8786=) c.26347C>T (p.Leu8783=) c.26326C>T (p.Leu8776=) c.26317C>T (p.Leu8773=) c.26311C>T (p.Leu8771=) c.26299C>T (p.Leu8767=) c.26296C>T (p.Leu8766=) c.26257C>T (p.Leu8753=) c.26242C>T (p.Leu8748=) c.26227C>T (p.Leu8743=) c.26215C>T (p.Leu8739=) c.26212C>T (p.Leu8738=) c.26209C>T (p.Leu8737=) c.*32C>T (n.*32C>T) c.26365C>T (p.Leu8789=) c.26353C>T (p.Leu8785=) c.26203C>T (p.Leu8735=) c.24643C>T (p.Leu8215=) c.24136C>T (p.Leu8046=) c.19603C>T (p.Leu6535=) c.26341C>T (p.Leu8781=) c.26290C>T (p.Leu8764=) c.26254C>T (p.Leu8752=) c.26101C>T (p.Leu8701=) | |
6 | g.152122609G>C | CA366089082 | ESR1,SYNE1 | c.2755C>G (p.Leu919Val) c.26221C>G (p.Leu8741Val) c.26077C>G (p.Leu8693Val) c.1564C>G c.1939C>G c.1806C>G c.2071C>G (n.2071C>G) c.25006C>G (p.Leu8336Val) n.2969C>G c.4997C>G (n.4997C>G) n.9913C>G c.4100C>G (n.4100C>G) n.9805C>G c.851-2657G>C (n.851-2657G>C) n.2835C>G n.6858C>G n.2999C>G c.2686C>G (p.Leu896Val) c.26368C>G (p.Leu8790Val) c.26356C>G (p.Leu8786Val) c.26347C>G (p.Leu8783Val) c.26326C>G (p.Leu8776Val) c.26317C>G (p.Leu8773Val) c.26311C>G (p.Leu8771Val) c.26299C>G (p.Leu8767Val) c.26296C>G (p.Leu8766Val) c.26257C>G (p.Leu8753Val) c.26242C>G (p.Leu8748Val) c.26227C>G (p.Leu8743Val) c.26215C>G (p.Leu8739Val) c.26212C>G (p.Leu8738Val) c.26209C>G (p.Leu8737Val) c.*32C>G (n.*32C>G) c.26365C>G (p.Leu8789Val) c.26353C>G (p.Leu8785Val) c.26203C>G (p.Leu8735Val) c.24643C>G (p.Leu8215Val) c.24136C>G (p.Leu8046Val) c.19603C>G (p.Leu6535Val) c.26341C>G (p.Leu8781Val) c.26290C>G (p.Leu8764Val) c.26254C>G (p.Leu8752Val) c.26101C>G (p.Leu8701Val) | |
6 | g.152122609G= | CA1673189071 | ESR1,SYNE1 | c.2755C= (p.Leu919=) c.26221C= (p.Leu8741=) c.26077C= (p.Leu8693=) c.1564C= c.1939C= c.1806C= c.2071C= (n.2071C=) c.25006C= (p.Leu8336=) n.2969C= c.4997C= (n.4997C=) n.9913C= c.4100C= (n.4100C=) n.9805C= c.851-2657G= (n.851-2657G=) n.2835C= n.6858C= n.2999C= c.2686C= (p.Leu896=) c.26368C= (p.Leu8790=) c.26356C= (p.Leu8786=) c.26347C= (p.Leu8783=) c.26326C= (p.Leu8776=) c.26317C= (p.Leu8773=) c.26311C= (p.Leu8771=) c.26299C= (p.Leu8767=) c.26296C= (p.Leu8766=) c.26257C= (p.Leu8753=) c.26242C= (p.Leu8748=) c.26227C= (p.Leu8743=) c.26215C= (p.Leu8739=) c.26212C= (p.Leu8738=) c.26209C= (p.Leu8737=) c.*32C= (n.*32C=) c.26365C= (p.Leu8789=) c.26353C= (p.Leu8785=) c.26203C= (p.Leu8735=) c.24643C= (p.Leu8215=) c.24136C= (p.Leu8046=) c.19603C= (p.Leu6535=) c.26341C= (p.Leu8781=) c.26290C= (p.Leu8764=) c.26254C= (p.Leu8752=) c.26101C= (p.Leu8701=) | |
6 | g.152122609G>T | CA155452 | ESR1,SYNE1 | c.2755C>A (p.Leu919Met) c.26221C>A (p.Leu8741Met) c.26077C>A (p.Leu8693Met) c.1564C>A c.1939C>A c.1806C>A c.2071C>A (n.2071C>A) c.25006C>A (p.Leu8336Met) n.2969C>A c.4997C>A (n.4997C>A) n.9913C>A c.4100C>A (n.4100C>A) n.9805C>A c.851-2657G>T (n.851-2657G>T) n.2835C>A n.6858C>A n.2999C>A c.2686C>A (p.Leu896Met) c.26368C>A (p.Leu8790Met) c.26356C>A (p.Leu8786Met) c.26347C>A (p.Leu8783Met) c.26326C>A (p.Leu8776Met) c.26317C>A (p.Leu8773Met) c.26311C>A (p.Leu8771Met) c.26299C>A (p.Leu8767Met) c.26296C>A (p.Leu8766Met) c.26257C>A (p.Leu8753Met) c.26242C>A (p.Leu8748Met) c.26227C>A (p.Leu8743Met) c.26215C>A (p.Leu8739Met) c.26212C>A (p.Leu8738Met) c.26209C>A (p.Leu8737Met) c.*32C>A (n.*32C>A) c.26365C>A (p.Leu8789Met) c.26353C>A (p.Leu8785Met) c.26203C>A (p.Leu8735Met) c.24643C>A (p.Leu8215Met) c.24136C>A (p.Leu8046Met) c.19603C>A (p.Leu6535Met) c.26341C>A (p.Leu8781Met) c.26290C>A (p.Leu8764Met) c.26254C>A (p.Leu8752Met) c.26101C>A (p.Leu8701Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122610G>A | CA452969639 | ESR1,SYNE1 | c.2754C>T (p.Phe918=) c.26220C>T (p.Phe8740=) c.26076C>T (p.Phe8692=) c.1563C>T c.1938C>T c.1805C>T c.2070C>T (n.2070C>T) c.25005C>T (p.Phe8335=) n.2968C>T c.4996C>T (n.4996C>T) n.9912C>T c.4099C>T (n.4099C>T) n.9804C>T c.851-2656G>A (n.851-2656G>A) n.2834C>T n.6857C>T n.2998C>T c.2685C>T (p.Phe895=) c.26367C>T (p.Phe8789=) c.26355C>T (p.Phe8785=) c.26346C>T (p.Phe8782=) c.26325C>T (p.Phe8775=) c.26316C>T (p.Phe8772=) c.26310C>T (p.Phe8770=) c.26298C>T (p.Phe8766=) c.26295C>T (p.Phe8765=) c.26256C>T (p.Phe8752=) c.26241C>T (p.Phe8747=) c.26226C>T (p.Phe8742=) c.26214C>T (p.Phe8738=) c.26211C>T (p.Phe8737=) c.26208C>T (p.Phe8736=) c.*31C>T (n.*31C>T) c.26364C>T (p.Phe8788=) c.26352C>T (p.Phe8784=) c.26202C>T (p.Phe8734=) c.24642C>T (p.Phe8214=) c.24135C>T (p.Phe8045=) c.19602C>T (p.Phe6534=) c.26340C>T (p.Phe8780=) c.26289C>T (p.Phe8763=) c.26253C>T (p.Phe8751=) c.26100C>T (p.Phe8700=) | COSMIC COSMIC COSMIC |
6 | g.152122610G>C | CA366089086 | ESR1,SYNE1 | c.2754C>G (p.Phe918Leu) c.26220C>G (p.Phe8740Leu) c.26076C>G (p.Phe8692Leu) c.1563C>G c.1938C>G c.1805C>G c.2070C>G (n.2070C>G) c.25005C>G (p.Phe8335Leu) n.2968C>G c.4996C>G (n.4996C>G) n.9912C>G c.4099C>G (n.4099C>G) n.9804C>G c.851-2656G>C (n.851-2656G>C) n.2834C>G n.6857C>G n.2998C>G c.2685C>G (p.Phe895Leu) c.26367C>G (p.Phe8789Leu) c.26355C>G (p.Phe8785Leu) c.26346C>G (p.Phe8782Leu) c.26325C>G (p.Phe8775Leu) c.26316C>G (p.Phe8772Leu) c.26310C>G (p.Phe8770Leu) c.26298C>G (p.Phe8766Leu) c.26295C>G (p.Phe8765Leu) c.26256C>G (p.Phe8752Leu) c.26241C>G (p.Phe8747Leu) c.26226C>G (p.Phe8742Leu) c.26214C>G (p.Phe8738Leu) c.26211C>G (p.Phe8737Leu) c.26208C>G (p.Phe8736Leu) c.*31C>G (n.*31C>G) c.26364C>G (p.Phe8788Leu) c.26352C>G (p.Phe8784Leu) c.26202C>G (p.Phe8734Leu) c.24642C>G (p.Phe8214Leu) c.24135C>G (p.Phe8045Leu) c.19602C>G (p.Phe6534Leu) c.26340C>G (p.Phe8780Leu) c.26289C>G (p.Phe8763Leu) c.26253C>G (p.Phe8751Leu) c.26100C>G (p.Phe8700Leu) | |
6 | g.152122610G>T | CA366089088 | ESR1,SYNE1 | c.2754C>A (p.Phe918Leu) c.26220C>A (p.Phe8740Leu) c.26076C>A (p.Phe8692Leu) c.1563C>A c.1938C>A c.1805C>A c.2070C>A (n.2070C>A) c.25005C>A (p.Phe8335Leu) n.2968C>A c.4996C>A (n.4996C>A) n.9912C>A c.4099C>A (n.4099C>A) n.9804C>A c.851-2656G>T (n.851-2656G>T) n.2834C>A n.6857C>A n.2998C>A c.2685C>A (p.Phe895Leu) c.26367C>A (p.Phe8789Leu) c.26355C>A (p.Phe8785Leu) c.26346C>A (p.Phe8782Leu) c.26325C>A (p.Phe8775Leu) c.26316C>A (p.Phe8772Leu) c.26310C>A (p.Phe8770Leu) c.26298C>A (p.Phe8766Leu) c.26295C>A (p.Phe8765Leu) c.26256C>A (p.Phe8752Leu) c.26241C>A (p.Phe8747Leu) c.26226C>A (p.Phe8742Leu) c.26214C>A (p.Phe8738Leu) c.26211C>A (p.Phe8737Leu) c.26208C>A (p.Phe8736Leu) c.*31C>A (n.*31C>A) c.26364C>A (p.Phe8788Leu) c.26352C>A (p.Phe8784Leu) c.26202C>A (p.Phe8734Leu) c.24642C>A (p.Phe8214Leu) c.24135C>A (p.Phe8045Leu) c.19602C>A (p.Phe6534Leu) c.26340C>A (p.Phe8780Leu) c.26289C>A (p.Phe8763Leu) c.26253C>A (p.Phe8751Leu) c.26100C>A (p.Phe8700Leu) | |
6 | g.152122611A>C | CA366089092 | ESR1,SYNE1 | c.2753T>G (p.Phe918Cys) c.26219T>G (p.Phe8740Cys) c.26075T>G (p.Phe8692Cys) c.1562T>G c.1937T>G c.1804T>G c.2069T>G (n.2069T>G) c.25004T>G (p.Phe8335Cys) n.2967T>G c.4995T>G (n.4995T>G) n.9911T>G c.4098T>G (n.4098T>G) n.9803T>G c.851-2655A>C (n.851-2655A>C) n.2833T>G n.6856T>G n.2997T>G c.2684T>G (p.Phe895Cys) c.26366T>G (p.Phe8789Cys) c.26354T>G (p.Phe8785Cys) c.26345T>G (p.Phe8782Cys) c.26324T>G (p.Phe8775Cys) c.26315T>G (p.Phe8772Cys) c.26309T>G (p.Phe8770Cys) c.26297T>G (p.Phe8766Cys) c.26294T>G (p.Phe8765Cys) c.26255T>G (p.Phe8752Cys) c.26240T>G (p.Phe8747Cys) c.26225T>G (p.Phe8742Cys) c.26213T>G (p.Phe8738Cys) c.26210T>G (p.Phe8737Cys) c.26207T>G (p.Phe8736Cys) c.*30T>G (n.*30T>G) c.26363T>G (p.Phe8788Cys) c.26351T>G (p.Phe8784Cys) c.26201T>G (p.Phe8734Cys) c.24641T>G (p.Phe8214Cys) c.24134T>G (p.Phe8045Cys) c.19601T>G (p.Phe6534Cys) c.26339T>G (p.Phe8780Cys) c.26288T>G (p.Phe8763Cys) c.26252T>G (p.Phe8751Cys) c.26099T>G (p.Phe8700Cys) | |
6 | g.152122611A>G | CA366089094 | ESR1,SYNE1 | c.2753T>C (p.Phe918Ser) c.26219T>C (p.Phe8740Ser) c.26075T>C (p.Phe8692Ser) c.1562T>C c.1937T>C c.1804T>C c.2069T>C (n.2069T>C) c.25004T>C (p.Phe8335Ser) n.2967T>C c.4995T>C (n.4995T>C) n.9911T>C c.4098T>C (n.4098T>C) n.9803T>C c.851-2655A>G (n.851-2655A>G) n.2833T>C n.6856T>C n.2997T>C c.2684T>C (p.Phe895Ser) c.26366T>C (p.Phe8789Ser) c.26354T>C (p.Phe8785Ser) c.26345T>C (p.Phe8782Ser) c.26324T>C (p.Phe8775Ser) c.26315T>C (p.Phe8772Ser) c.26309T>C (p.Phe8770Ser) c.26297T>C (p.Phe8766Ser) c.26294T>C (p.Phe8765Ser) c.26255T>C (p.Phe8752Ser) c.26240T>C (p.Phe8747Ser) c.26225T>C (p.Phe8742Ser) c.26213T>C (p.Phe8738Ser) c.26210T>C (p.Phe8737Ser) c.26207T>C (p.Phe8736Ser) c.*30T>C (n.*30T>C) c.26363T>C (p.Phe8788Ser) c.26351T>C (p.Phe8784Ser) c.26201T>C (p.Phe8734Ser) c.24641T>C (p.Phe8214Ser) c.24134T>C (p.Phe8045Ser) c.19601T>C (p.Phe6534Ser) c.26339T>C (p.Phe8780Ser) c.26288T>C (p.Phe8763Ser) c.26252T>C (p.Phe8751Ser) c.26099T>C (p.Phe8700Ser) | |
6 | g.152122611A>T | CA366089091 | ESR1,SYNE1 | c.2753T>A (p.Phe918Tyr) c.26219T>A (p.Phe8740Tyr) c.26075T>A (p.Phe8692Tyr) c.1562T>A c.1937T>A c.1804T>A c.2069T>A (n.2069T>A) c.25004T>A (p.Phe8335Tyr) n.2967T>A c.4995T>A (n.4995T>A) n.9911T>A c.4098T>A (n.4098T>A) n.9803T>A c.851-2655A>T (n.851-2655A>T) n.2833T>A n.6856T>A n.2997T>A c.2684T>A (p.Phe895Tyr) c.26366T>A (p.Phe8789Tyr) c.26354T>A (p.Phe8785Tyr) c.26345T>A (p.Phe8782Tyr) c.26324T>A (p.Phe8775Tyr) c.26315T>A (p.Phe8772Tyr) c.26309T>A (p.Phe8770Tyr) c.26297T>A (p.Phe8766Tyr) c.26294T>A (p.Phe8765Tyr) c.26255T>A (p.Phe8752Tyr) c.26240T>A (p.Phe8747Tyr) c.26225T>A (p.Phe8742Tyr) c.26213T>A (p.Phe8738Tyr) c.26210T>A (p.Phe8737Tyr) c.26207T>A (p.Phe8736Tyr) c.*30T>A (n.*30T>A) c.26363T>A (p.Phe8788Tyr) c.26351T>A (p.Phe8784Tyr) c.26201T>A (p.Phe8734Tyr) c.24641T>A (p.Phe8214Tyr) c.24134T>A (p.Phe8045Tyr) c.19601T>A (p.Phe6534Tyr) c.26339T>A (p.Phe8780Tyr) c.26288T>A (p.Phe8763Tyr) c.26252T>A (p.Phe8751Tyr) c.26099T>A (p.Phe8700Tyr) | |
6 | g.152122612A>C | CA366089098 | ESR1,SYNE1 | c.2752T>G (p.Phe918Val) c.26218T>G (p.Phe8740Val) c.26074T>G (p.Phe8692Val) c.1561T>G c.1936T>G c.1803T>G c.2068T>G (n.2068T>G) c.25003T>G (p.Phe8335Val) n.2966T>G c.4994T>G (n.4994T>G) n.9910T>G c.4097T>G (n.4097T>G) n.9802T>G c.851-2654A>C (n.851-2654A>C) n.2832T>G n.6855T>G n.2996T>G c.2683T>G (p.Phe895Val) c.26365T>G (p.Phe8789Val) c.26353T>G (p.Phe8785Val) c.26344T>G (p.Phe8782Val) c.26323T>G (p.Phe8775Val) c.26314T>G (p.Phe8772Val) c.26308T>G (p.Phe8770Val) c.26296T>G (p.Phe8766Val) c.26293T>G (p.Phe8765Val) c.26254T>G (p.Phe8752Val) c.26239T>G (p.Phe8747Val) c.26224T>G (p.Phe8742Val) c.26212T>G (p.Phe8738Val) c.26209T>G (p.Phe8737Val) c.26206T>G (p.Phe8736Val) c.*29T>G (n.*29T>G) c.26362T>G (p.Phe8788Val) c.26350T>G (p.Phe8784Val) c.26200T>G (p.Phe8734Val) c.24640T>G (p.Phe8214Val) c.24133T>G (p.Phe8045Val) c.19600T>G (p.Phe6534Val) c.26338T>G (p.Phe8780Val) c.26287T>G (p.Phe8763Val) c.26251T>G (p.Phe8751Val) c.26098T>G (p.Phe8700Val) | |
6 | g.152122612A>G | CA366089096 | ESR1,SYNE1 | c.2752T>C (p.Phe918Leu) c.26218T>C (p.Phe8740Leu) c.26074T>C (p.Phe8692Leu) c.1561T>C c.1936T>C c.1803T>C c.2068T>C (n.2068T>C) c.25003T>C (p.Phe8335Leu) n.2966T>C c.4994T>C (n.4994T>C) n.9910T>C c.4097T>C (n.4097T>C) n.9802T>C c.851-2654A>G (n.851-2654A>G) n.2832T>C n.6855T>C n.2996T>C c.2683T>C (p.Phe895Leu) c.26365T>C (p.Phe8789Leu) c.26353T>C (p.Phe8785Leu) c.26344T>C (p.Phe8782Leu) c.26323T>C (p.Phe8775Leu) c.26314T>C (p.Phe8772Leu) c.26308T>C (p.Phe8770Leu) c.26296T>C (p.Phe8766Leu) c.26293T>C (p.Phe8765Leu) c.26254T>C (p.Phe8752Leu) c.26239T>C (p.Phe8747Leu) c.26224T>C (p.Phe8742Leu) c.26212T>C (p.Phe8738Leu) c.26209T>C (p.Phe8737Leu) c.26206T>C (p.Phe8736Leu) c.*29T>C (n.*29T>C) c.26362T>C (p.Phe8788Leu) c.26350T>C (p.Phe8784Leu) c.26200T>C (p.Phe8734Leu) c.24640T>C (p.Phe8214Leu) c.24133T>C (p.Phe8045Leu) c.19600T>C (p.Phe6534Leu) c.26338T>C (p.Phe8780Leu) c.26287T>C (p.Phe8763Leu) c.26251T>C (p.Phe8751Leu) c.26098T>C (p.Phe8700Leu) | |
6 | g.152122612A>T | CA366089099 | ESR1,SYNE1 | c.2752T>A (p.Phe918Ile) c.26218T>A (p.Phe8740Ile) c.26074T>A (p.Phe8692Ile) c.1561T>A c.1936T>A c.1803T>A c.2068T>A (n.2068T>A) c.25003T>A (p.Phe8335Ile) n.2966T>A c.4994T>A (n.4994T>A) n.9910T>A c.4097T>A (n.4097T>A) n.9802T>A c.851-2654A>T (n.851-2654A>T) n.2832T>A n.6855T>A n.2996T>A c.2683T>A (p.Phe895Ile) c.26365T>A (p.Phe8789Ile) c.26353T>A (p.Phe8785Ile) c.26344T>A (p.Phe8782Ile) c.26323T>A (p.Phe8775Ile) c.26314T>A (p.Phe8772Ile) c.26308T>A (p.Phe8770Ile) c.26296T>A (p.Phe8766Ile) c.26293T>A (p.Phe8765Ile) c.26254T>A (p.Phe8752Ile) c.26239T>A (p.Phe8747Ile) c.26224T>A (p.Phe8742Ile) c.26212T>A (p.Phe8738Ile) c.26209T>A (p.Phe8737Ile) c.26206T>A (p.Phe8736Ile) c.*29T>A (n.*29T>A) c.26362T>A (p.Phe8788Ile) c.26350T>A (p.Phe8784Ile) c.26200T>A (p.Phe8734Ile) c.24640T>A (p.Phe8214Ile) c.24133T>A (p.Phe8045Ile) c.19600T>A (p.Phe6534Ile) c.26338T>A (p.Phe8780Ile) c.26287T>A (p.Phe8763Ile) c.26251T>A (p.Phe8751Ile) c.26098T>A (p.Phe8700Ile) | |
6 | g.152122613G>A | CA452969641 | ESR1,SYNE1 | c.2751C>T (p.Gly917=) c.26217C>T (p.Gly8739=) c.26073C>T (p.Gly8691=) c.1560C>T c.1935C>T c.1802C>T c.2067C>T (n.2067C>T) c.25002C>T (p.Gly8334=) n.2965C>T c.4993C>T (n.4993C>T) n.9909C>T c.4096C>T (n.4096C>T) n.9801C>T c.851-2653G>A (n.851-2653G>A) n.2831C>T n.6854C>T n.2995C>T c.2682C>T (p.Gly894=) c.26364C>T (p.Gly8788=) c.26352C>T (p.Gly8784=) c.26343C>T (p.Gly8781=) c.26322C>T (p.Gly8774=) c.26313C>T (p.Gly8771=) c.26307C>T (p.Gly8769=) c.26295C>T (p.Gly8765=) c.26292C>T (p.Gly8764=) c.26253C>T (p.Gly8751=) c.26238C>T (p.Gly8746=) c.26223C>T (p.Gly8741=) c.26211C>T (p.Gly8737=) c.26208C>T (p.Gly8736=) c.26205C>T (p.Gly8735=) c.*28C>T (n.*28C>T) c.26361C>T (p.Gly8787=) c.26349C>T (p.Gly8783=) c.26199C>T (p.Gly8733=) c.24639C>T (p.Gly8213=) c.24132C>T (p.Gly8044=) c.19599C>T (p.Gly6533=) c.26337C>T (p.Gly8779=) c.26286C>T (p.Gly8762=) c.26250C>T (p.Gly8750=) c.26097C>T (p.Gly8699=) | |
6 | g.152122613G>C | CA452969642 | ESR1,SYNE1 | c.2751C>G (p.Gly917=) c.26217C>G (p.Gly8739=) c.26073C>G (p.Gly8691=) c.1560C>G c.1935C>G c.1802C>G c.2067C>G (n.2067C>G) c.25002C>G (p.Gly8334=) n.2965C>G c.4993C>G (n.4993C>G) n.9909C>G c.4096C>G (n.4096C>G) n.9801C>G c.851-2653G>C (n.851-2653G>C) n.2831C>G n.6854C>G n.2995C>G c.2682C>G (p.Gly894=) c.26364C>G (p.Gly8788=) c.26352C>G (p.Gly8784=) c.26343C>G (p.Gly8781=) c.26322C>G (p.Gly8774=) c.26313C>G (p.Gly8771=) c.26307C>G (p.Gly8769=) c.26295C>G (p.Gly8765=) c.26292C>G (p.Gly8764=) c.26253C>G (p.Gly8751=) c.26238C>G (p.Gly8746=) c.26223C>G (p.Gly8741=) c.26211C>G (p.Gly8737=) c.26208C>G (p.Gly8736=) c.26205C>G (p.Gly8735=) c.*28C>G (n.*28C>G) c.26361C>G (p.Gly8787=) c.26349C>G (p.Gly8783=) c.26199C>G (p.Gly8733=) c.24639C>G (p.Gly8213=) c.24132C>G (p.Gly8044=) c.19599C>G (p.Gly6533=) c.26337C>G (p.Gly8779=) c.26286C>G (p.Gly8762=) c.26250C>G (p.Gly8750=) c.26097C>G (p.Gly8699=) | |
6 | g.152122613G>T | CA452969643 | ESR1,SYNE1 | c.2751C>A (p.Gly917=) c.26217C>A (p.Gly8739=) c.26073C>A (p.Gly8691=) c.1560C>A c.1935C>A c.1802C>A c.2067C>A (n.2067C>A) c.25002C>A (p.Gly8334=) n.2965C>A c.4993C>A (n.4993C>A) n.9909C>A c.4096C>A (n.4096C>A) n.9801C>A c.851-2653G>T (n.851-2653G>T) n.2831C>A n.6854C>A n.2995C>A c.2682C>A (p.Gly894=) c.26364C>A (p.Gly8788=) c.26352C>A (p.Gly8784=) c.26343C>A (p.Gly8781=) c.26322C>A (p.Gly8774=) c.26313C>A (p.Gly8771=) c.26307C>A (p.Gly8769=) c.26295C>A (p.Gly8765=) c.26292C>A (p.Gly8764=) c.26253C>A (p.Gly8751=) c.26238C>A (p.Gly8746=) c.26223C>A (p.Gly8741=) c.26211C>A (p.Gly8737=) c.26208C>A (p.Gly8736=) c.26205C>A (p.Gly8735=) c.*28C>A (n.*28C>A) c.26361C>A (p.Gly8787=) c.26349C>A (p.Gly8783=) c.26199C>A (p.Gly8733=) c.24639C>A (p.Gly8213=) c.24132C>A (p.Gly8044=) c.19599C>A (p.Gly6533=) c.26337C>A (p.Gly8779=) c.26286C>A (p.Gly8762=) c.26250C>A (p.Gly8750=) c.26097C>A (p.Gly8699=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122614C>A | CA366089101 | ESR1,SYNE1 | c.2750G>T (p.Gly917Val) c.26216G>T (p.Gly8739Val) c.26072G>T (p.Gly8691Val) c.1559G>T c.1934G>T c.1801G>T c.2066G>T (n.2066G>T) c.25001G>T (p.Gly8334Val) n.2964G>T c.4992G>T (n.4992G>T) n.9908G>T c.4095G>T (n.4095G>T) n.9800G>T c.851-2652C>A (n.851-2652C>A) n.2830G>T n.6853G>T n.2994G>T c.2681G>T (p.Gly894Val) c.26363G>T (p.Gly8788Val) c.26351G>T (p.Gly8784Val) c.26342G>T (p.Gly8781Val) c.26321G>T (p.Gly8774Val) c.26312G>T (p.Gly8771Val) c.26306G>T (p.Gly8769Val) c.26294G>T (p.Gly8765Val) c.26291G>T (p.Gly8764Val) c.26252G>T (p.Gly8751Val) c.26237G>T (p.Gly8746Val) c.26222G>T (p.Gly8741Val) c.26210G>T (p.Gly8737Val) c.26207G>T (p.Gly8736Val) c.26204G>T (p.Gly8735Val) c.*27G>T (n.*27G>T) c.26360G>T (p.Gly8787Val) c.26348G>T (p.Gly8783Val) c.26198G>T (p.Gly8733Val) c.24638G>T (p.Gly8213Val) c.24131G>T (p.Gly8044Val) c.19598G>T (p.Gly6533Val) c.26336G>T (p.Gly8779Val) c.26285G>T (p.Gly8762Val) c.26249G>T (p.Gly8750Val) c.26096G>T (p.Gly8699Val) | |
6 | g.152122614C>G | CA366089103 | ESR1,SYNE1 | c.2750G>C (p.Gly917Ala) c.26216G>C (p.Gly8739Ala) c.26072G>C (p.Gly8691Ala) c.1559G>C c.1934G>C c.1801G>C c.2066G>C (n.2066G>C) c.25001G>C (p.Gly8334Ala) n.2964G>C c.4992G>C (n.4992G>C) n.9908G>C c.4095G>C (n.4095G>C) n.9800G>C c.851-2652C>G (n.851-2652C>G) n.2830G>C n.6853G>C n.2994G>C c.2681G>C (p.Gly894Ala) c.26363G>C (p.Gly8788Ala) c.26351G>C (p.Gly8784Ala) c.26342G>C (p.Gly8781Ala) c.26321G>C (p.Gly8774Ala) c.26312G>C (p.Gly8771Ala) c.26306G>C (p.Gly8769Ala) c.26294G>C (p.Gly8765Ala) c.26291G>C (p.Gly8764Ala) c.26252G>C (p.Gly8751Ala) c.26237G>C (p.Gly8746Ala) c.26222G>C (p.Gly8741Ala) c.26210G>C (p.Gly8737Ala) c.26207G>C (p.Gly8736Ala) c.26204G>C (p.Gly8735Ala) c.*27G>C (n.*27G>C) c.26360G>C (p.Gly8787Ala) c.26348G>C (p.Gly8783Ala) c.26198G>C (p.Gly8733Ala) c.24638G>C (p.Gly8213Ala) c.24131G>C (p.Gly8044Ala) c.19598G>C (p.Gly6533Ala) c.26336G>C (p.Gly8779Ala) c.26285G>C (p.Gly8762Ala) c.26249G>C (p.Gly8750Ala) c.26096G>C (p.Gly8699Ala) | |
6 | g.152122614C>T | CA366089105 | ESR1,SYNE1 | c.2750G>A (p.Gly917Asp) c.26216G>A (p.Gly8739Asp) c.26072G>A (p.Gly8691Asp) c.1559G>A c.1934G>A c.1801G>A c.2066G>A (n.2066G>A) c.25001G>A (p.Gly8334Asp) n.2964G>A c.4992G>A (n.4992G>A) n.9908G>A c.4095G>A (n.4095G>A) n.9800G>A c.851-2652C>T (n.851-2652C>T) n.2830G>A n.6853G>A n.2994G>A c.2681G>A (p.Gly894Asp) c.26363G>A (p.Gly8788Asp) c.26351G>A (p.Gly8784Asp) c.26342G>A (p.Gly8781Asp) c.26321G>A (p.Gly8774Asp) c.26312G>A (p.Gly8771Asp) c.26306G>A (p.Gly8769Asp) c.26294G>A (p.Gly8765Asp) c.26291G>A (p.Gly8764Asp) c.26252G>A (p.Gly8751Asp) c.26237G>A (p.Gly8746Asp) c.26222G>A (p.Gly8741Asp) c.26210G>A (p.Gly8737Asp) c.26207G>A (p.Gly8736Asp) c.26204G>A (p.Gly8735Asp) c.*27G>A (n.*27G>A) c.26360G>A (p.Gly8787Asp) c.26348G>A (p.Gly8783Asp) c.26198G>A (p.Gly8733Asp) c.24638G>A (p.Gly8213Asp) c.24131G>A (p.Gly8044Asp) c.19598G>A (p.Gly6533Asp) c.26336G>A (p.Gly8779Asp) c.26285G>A (p.Gly8762Asp) c.26249G>A (p.Gly8750Asp) c.26096G>A (p.Gly8699Asp) | |
6 | g.152122615C>A | CA366089106 | ESR1,SYNE1 | c.2749G>T (p.Gly917Cys) c.26215G>T (p.Gly8739Cys) c.26071G>T (p.Gly8691Cys) c.1558G>T c.1933G>T c.1800G>T c.2065G>T (n.2065G>T) c.25000G>T (p.Gly8334Cys) n.2963G>T c.4991G>T (n.4991G>T) n.9907G>T c.4094G>T (n.4094G>T) n.9799G>T c.851-2651C>A (n.851-2651C>A) n.2829G>T n.6852G>T n.2993G>T c.2680G>T (p.Gly894Cys) c.26362G>T (p.Gly8788Cys) c.26350G>T (p.Gly8784Cys) c.26341G>T (p.Gly8781Cys) c.26320G>T (p.Gly8774Cys) c.26311G>T (p.Gly8771Cys) c.26305G>T (p.Gly8769Cys) c.26293G>T (p.Gly8765Cys) c.26290G>T (p.Gly8764Cys) c.26251G>T (p.Gly8751Cys) c.26236G>T (p.Gly8746Cys) c.26221G>T (p.Gly8741Cys) c.26209G>T (p.Gly8737Cys) c.26206G>T (p.Gly8736Cys) c.26203G>T (p.Gly8735Cys) c.*26G>T (n.*26G>T) c.26359G>T (p.Gly8787Cys) c.26347G>T (p.Gly8783Cys) c.26197G>T (p.Gly8733Cys) c.24637G>T (p.Gly8213Cys) c.24130G>T (p.Gly8044Cys) c.19597G>T (p.Gly6533Cys) c.26335G>T (p.Gly8779Cys) c.26284G>T (p.Gly8762Cys) c.26248G>T (p.Gly8750Cys) c.26095G>T (p.Gly8699Cys) | gnomAD v4 |
6 | g.152122615C= | CA1673189076 | ESR1,SYNE1 | c.2749G= (p.Gly917=) c.26215G= (p.Gly8739=) c.26071G= (p.Gly8691=) c.1558G= c.1933G= c.1800G= c.2065G= (n.2065G=) c.25000G= (p.Gly8334=) n.2963G= c.4991G= (n.4991G=) n.9907G= c.4094G= (n.4094G=) n.9799G= c.851-2651C= (n.851-2651C=) n.2829G= n.6852G= n.2993G= c.2680G= (p.Gly894=) c.26362G= (p.Gly8788=) c.26350G= (p.Gly8784=) c.26341G= (p.Gly8781=) c.26320G= (p.Gly8774=) c.26311G= (p.Gly8771=) c.26305G= (p.Gly8769=) c.26293G= (p.Gly8765=) c.26290G= (p.Gly8764=) c.26251G= (p.Gly8751=) c.26236G= (p.Gly8746=) c.26221G= (p.Gly8741=) c.26209G= (p.Gly8737=) c.26206G= (p.Gly8736=) c.26203G= (p.Gly8735=) c.*26G= (n.*26G=) c.26359G= (p.Gly8787=) c.26347G= (p.Gly8783=) c.26197G= (p.Gly8733=) c.24637G= (p.Gly8213=) c.24130G= (p.Gly8044=) c.19597G= (p.Gly6533=) c.26335G= (p.Gly8779=) c.26284G= (p.Gly8762=) c.26248G= (p.Gly8750=) c.26095G= (p.Gly8699=) | |
6 | g.152122615C>G | CA366089108 | ESR1,SYNE1 | c.2749G>C (p.Gly917Arg) c.26215G>C (p.Gly8739Arg) c.26071G>C (p.Gly8691Arg) c.1558G>C c.1933G>C c.1800G>C c.2065G>C (n.2065G>C) c.25000G>C (p.Gly8334Arg) n.2963G>C c.4991G>C (n.4991G>C) n.9907G>C c.4094G>C (n.4094G>C) n.9799G>C c.851-2651C>G (n.851-2651C>G) n.2829G>C n.6852G>C n.2993G>C c.2680G>C (p.Gly894Arg) c.26362G>C (p.Gly8788Arg) c.26350G>C (p.Gly8784Arg) c.26341G>C (p.Gly8781Arg) c.26320G>C (p.Gly8774Arg) c.26311G>C (p.Gly8771Arg) c.26305G>C (p.Gly8769Arg) c.26293G>C (p.Gly8765Arg) c.26290G>C (p.Gly8764Arg) c.26251G>C (p.Gly8751Arg) c.26236G>C (p.Gly8746Arg) c.26221G>C (p.Gly8741Arg) c.26209G>C (p.Gly8737Arg) c.26206G>C (p.Gly8736Arg) c.26203G>C (p.Gly8735Arg) c.*26G>C (n.*26G>C) c.26359G>C (p.Gly8787Arg) c.26347G>C (p.Gly8783Arg) c.26197G>C (p.Gly8733Arg) c.24637G>C (p.Gly8213Arg) c.24130G>C (p.Gly8044Arg) c.19597G>C (p.Gly6533Arg) c.26335G>C (p.Gly8779Arg) c.26284G>C (p.Gly8762Arg) c.26248G>C (p.Gly8750Arg) c.26095G>C (p.Gly8699Arg) | gnomAD v4 |
6 | g.152122615C>T | CA4052601 | ESR1,SYNE1 | c.2749G>A (p.Gly917Ser) c.26215G>A (p.Gly8739Ser) c.26071G>A (p.Gly8691Ser) c.1558G>A c.1933G>A c.1800G>A c.2065G>A (n.2065G>A) c.25000G>A (p.Gly8334Ser) n.2963G>A c.4991G>A (n.4991G>A) n.9907G>A c.4094G>A (n.4094G>A) n.9799G>A c.851-2651C>T (n.851-2651C>T) n.2829G>A n.6852G>A n.2993G>A c.2680G>A (p.Gly894Ser) c.26362G>A (p.Gly8788Ser) c.26350G>A (p.Gly8784Ser) c.26341G>A (p.Gly8781Ser) c.26320G>A (p.Gly8774Ser) c.26311G>A (p.Gly8771Ser) c.26305G>A (p.Gly8769Ser) c.26293G>A (p.Gly8765Ser) c.26290G>A (p.Gly8764Ser) c.26251G>A (p.Gly8751Ser) c.26236G>A (p.Gly8746Ser) c.26221G>A (p.Gly8741Ser) c.26209G>A (p.Gly8737Ser) c.26206G>A (p.Gly8736Ser) c.26203G>A (p.Gly8735Ser) c.*26G>A (n.*26G>A) c.26359G>A (p.Gly8787Ser) c.26347G>A (p.Gly8783Ser) c.26197G>A (p.Gly8733Ser) c.24637G>A (p.Gly8213Ser) c.24130G>A (p.Gly8044Ser) c.19597G>A (p.Gly6533Ser) c.26335G>A (p.Gly8779Ser) c.26284G>A (p.Gly8762Ser) c.26248G>A (p.Gly8750Ser) c.26095G>A (p.Gly8699Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122616G>A | CA4052603 | ESR1,SYNE1 | c.2748C>T (p.Arg916=) c.26214C>T (p.Arg8738=) c.26070C>T (p.Arg8690=) c.1557C>T c.1932C>T c.1799C>T c.2064C>T (n.2064C>T) c.24999C>T (p.Arg8333=) n.2962C>T c.4990C>T (n.4990C>T) n.9906C>T c.4093C>T (n.4093C>T) n.9798C>T c.851-2650G>A (n.851-2650G>A) n.2828C>T n.6851C>T n.2992C>T c.2679C>T (p.Arg893=) c.26361C>T (p.Arg8787=) c.26349C>T (p.Arg8783=) c.26340C>T (p.Arg8780=) c.26319C>T (p.Arg8773=) c.26310C>T (p.Arg8770=) c.26304C>T (p.Arg8768=) c.26292C>T (p.Arg8764=) c.26289C>T (p.Arg8763=) c.26250C>T (p.Arg8750=) c.26235C>T (p.Arg8745=) c.26220C>T (p.Arg8740=) c.26208C>T (p.Arg8736=) c.26205C>T (p.Arg8735=) c.26202C>T (p.Arg8734=) c.*25C>T (n.*25C>T) c.26358C>T (p.Arg8786=) c.26346C>T (p.Arg8782=) c.26196C>T (p.Arg8732=) c.24636C>T (p.Arg8212=) c.24129C>T (p.Arg8043=) c.19596C>T (p.Arg6532=) c.26334C>T (p.Arg8778=) c.26283C>T (p.Arg8761=) c.26247C>T (p.Arg8749=) c.26094C>T (p.Arg8698=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122616G>C | CA452969650 | ESR1,SYNE1 | c.2748C>G (p.Arg916=) c.26214C>G (p.Arg8738=) c.26070C>G (p.Arg8690=) c.1557C>G c.1932C>G c.1799C>G c.2064C>G (n.2064C>G) c.24999C>G (p.Arg8333=) n.2962C>G c.4990C>G (n.4990C>G) n.9906C>G c.4093C>G (n.4093C>G) n.9798C>G c.851-2650G>C (n.851-2650G>C) n.2828C>G n.6851C>G n.2992C>G c.2679C>G (p.Arg893=) c.26361C>G (p.Arg8787=) c.26349C>G (p.Arg8783=) c.26340C>G (p.Arg8780=) c.26319C>G (p.Arg8773=) c.26310C>G (p.Arg8770=) c.26304C>G (p.Arg8768=) c.26292C>G (p.Arg8764=) c.26289C>G (p.Arg8763=) c.26250C>G (p.Arg8750=) c.26235C>G (p.Arg8745=) c.26220C>G (p.Arg8740=) c.26208C>G (p.Arg8736=) c.26205C>G (p.Arg8735=) c.26202C>G (p.Arg8734=) c.*25C>G (n.*25C>G) c.26358C>G (p.Arg8786=) c.26346C>G (p.Arg8782=) c.26196C>G (p.Arg8732=) c.24636C>G (p.Arg8212=) c.24129C>G (p.Arg8043=) c.19596C>G (p.Arg6532=) c.26334C>G (p.Arg8778=) c.26283C>G (p.Arg8761=) c.26247C>G (p.Arg8749=) c.26094C>G (p.Arg8698=) | |
6 | g.152122616G= | CA1673189084 | ESR1,SYNE1 | c.2748C= (p.Arg916=) c.26214C= (p.Arg8738=) c.26070C= (p.Arg8690=) c.1557C= c.1932C= c.1799C= c.2064C= (n.2064C=) c.24999C= (p.Arg8333=) n.2962C= c.4990C= (n.4990C=) n.9906C= c.4093C= (n.4093C=) n.9798C= c.851-2650G= (n.851-2650G=) n.2828C= n.6851C= n.2992C= c.2679C= (p.Arg893=) c.26361C= (p.Arg8787=) c.26349C= (p.Arg8783=) c.26340C= (p.Arg8780=) c.26319C= (p.Arg8773=) c.26310C= (p.Arg8770=) c.26304C= (p.Arg8768=) c.26292C= (p.Arg8764=) c.26289C= (p.Arg8763=) c.26250C= (p.Arg8750=) c.26235C= (p.Arg8745=) c.26220C= (p.Arg8740=) c.26208C= (p.Arg8736=) c.26205C= (p.Arg8735=) c.26202C= (p.Arg8734=) c.*25C= (n.*25C=) c.26358C= (p.Arg8786=) c.26346C= (p.Arg8782=) c.26196C= (p.Arg8732=) c.24636C= (p.Arg8212=) c.24129C= (p.Arg8043=) c.19596C= (p.Arg6532=) c.26334C= (p.Arg8778=) c.26283C= (p.Arg8761=) c.26247C= (p.Arg8749=) c.26094C= (p.Arg8698=) | |
6 | g.152122616G>T | CA452969649 | ESR1,SYNE1 | c.2748C>A (p.Arg916=) c.26214C>A (p.Arg8738=) c.26070C>A (p.Arg8690=) c.1557C>A c.1932C>A c.1799C>A c.2064C>A (n.2064C>A) c.24999C>A (p.Arg8333=) n.2962C>A c.4990C>A (n.4990C>A) n.9906C>A c.4093C>A (n.4093C>A) n.9798C>A c.851-2650G>T (n.851-2650G>T) n.2828C>A n.6851C>A n.2992C>A c.2679C>A (p.Arg893=) c.26361C>A (p.Arg8787=) c.26349C>A (p.Arg8783=) c.26340C>A (p.Arg8780=) c.26319C>A (p.Arg8773=) c.26310C>A (p.Arg8770=) c.26304C>A (p.Arg8768=) c.26292C>A (p.Arg8764=) c.26289C>A (p.Arg8763=) c.26250C>A (p.Arg8750=) c.26235C>A (p.Arg8745=) c.26220C>A (p.Arg8740=) c.26208C>A (p.Arg8736=) c.26205C>A (p.Arg8735=) c.26202C>A (p.Arg8734=) c.*25C>A (n.*25C>A) c.26358C>A (p.Arg8786=) c.26346C>A (p.Arg8782=) c.26196C>A (p.Arg8732=) c.24636C>A (p.Arg8212=) c.24129C>A (p.Arg8043=) c.19596C>A (p.Arg6532=) c.26334C>A (p.Arg8778=) c.26283C>A (p.Arg8761=) c.26247C>A (p.Arg8749=) c.26094C>A (p.Arg8698=) | |
6 | g.152122616_152122617delinsGC | CA1673189085 | ESR1,SYNE1 | c.2747_2748delinsGC (p.Arg916=) c.26213_26214delinsGC (p.Arg8738=) c.26069_26070delinsGC (p.Arg8690=) c.1556_1557delinsGC c.1931_1932delinsGC c.1798_1799delinsGC c.2063_2064delinsGC (n.2063_2064delinsGC) c.24998_24999delinsGC (p.Arg8333=) n.2961_2962delinsGC c.4989_4990delinsGC (n.4989_4990delinsGC) n.9905_9906delinsGC c.4092_4093delinsGC (n.4092_4093delinsGC) n.9797_9798delinsGC c.851-2650_851-2649delinsGC (n.851-2650_851-2649delinsGC) n.2827_2828delinsGC n.6850_6851delinsGC n.2991_2992delinsGC c.2678_2679delinsGC (p.Arg893=) c.26360_26361delinsGC (p.Arg8787=) c.26348_26349delinsGC (p.Arg8783=) c.26339_26340delinsGC (p.Arg8780=) c.26318_26319delinsGC (p.Arg8773=) c.26309_26310delinsGC (p.Arg8770=) c.26303_26304delinsGC (p.Arg8768=) c.26291_26292delinsGC (p.Arg8764=) c.26288_26289delinsGC (p.Arg8763=) c.26249_26250delinsGC (p.Arg8750=) c.26234_26235delinsGC (p.Arg8745=) c.26219_26220delinsGC (p.Arg8740=) c.26207_26208delinsGC (p.Arg8736=) c.26204_26205delinsGC (p.Arg8735=) c.26201_26202delinsGC (p.Arg8734=) c.*24_*25delinsGC (n.*24_*25delinsGC) c.26357_26358delinsGC (p.Arg8786=) c.26345_26346delinsGC (p.Arg8782=) c.26195_26196delinsGC (p.Arg8732=) c.24635_24636delinsGC (p.Arg8212=) c.24128_24129delinsGC (p.Arg8043=) c.19595_19596delinsGC (p.Arg6532=) c.26333_26334delinsGC (p.Arg8778=) c.26282_26283delinsGC (p.Arg8761=) c.26246_26247delinsGC (p.Arg8749=) c.26093_26094delinsGC (p.Arg8698=) | |
6 | g.152122617del | CA4052602 | ESR1,SYNE1 | c.2747del (p.Arg916ProfsTer?) c.26213del (p.Arg8738ProfsTer?) c.26069del (p.Arg8690ProfsTer?) c.1556del c.1931del c.1798del c.2063del (n.2063del) c.24998del (p.Arg8333ProfsTer?) n.2961del c.4989del (n.4989del) n.9905del c.4092del (n.4092del) n.9797del c.851-2649del (n.851-2649del) n.2827del n.6850del n.2991del c.2678del (p.Arg893ProfsTer?) c.26360del (p.Arg8787ProfsTer?) c.26348del (p.Arg8783ProfsTer?) c.26339del (p.Arg8780ProfsTer?) c.26318del (p.Arg8773ProfsTer?) c.26309del (p.Arg8770ProfsTer?) c.26303del (p.Arg8768ProfsTer?) c.26291del (p.Arg8764ProfsTer?) c.26288del (p.Arg8763ProfsTer?) c.26249del (p.Arg8750ProfsTer?) c.26234del (p.Arg8745ProfsTer?) c.26219del (p.Arg8740ProfsTer?) c.26207del (p.Arg8736ProfsTer?) c.26204del (p.Arg8735ProfsTer?) c.26201del (p.Arg8734ProfsTer?) c.*24del (n.*24del) c.26357del (p.Arg8786ProfsTer?) c.26345del (p.Arg8782ProfsTer?) c.26195del (p.Arg8732ProfsTer?) c.24635del (p.Arg8212ProfsTer?) c.24128del (p.Arg8043ProfsTer?) c.19595del (p.Arg6532ProfsTer?) c.26333del (p.Arg8778ProfsTer?) c.26282del (p.Arg8761ProfsTer?) c.26246del (p.Arg8749ProfsTer?) c.26093del (p.Arg8698ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122617C>A | CA366089113 | ESR1,SYNE1 | c.2747G>T (p.Arg916Leu) c.26213G>T (p.Arg8738Leu) c.26069G>T (p.Arg8690Leu) c.1556G>T c.1931G>T c.1798G>T c.2063G>T (n.2063G>T) c.24998G>T (p.Arg8333Leu) n.2961G>T c.4989G>T (n.4989G>T) n.9905G>T c.4092G>T (n.4092G>T) n.9797G>T c.851-2649C>A (n.851-2649C>A) n.2827G>T n.6850G>T n.2991G>T c.2678G>T (p.Arg893Leu) c.26360G>T (p.Arg8787Leu) c.26348G>T (p.Arg8783Leu) c.26339G>T (p.Arg8780Leu) c.26318G>T (p.Arg8773Leu) c.26309G>T (p.Arg8770Leu) c.26303G>T (p.Arg8768Leu) c.26291G>T (p.Arg8764Leu) c.26288G>T (p.Arg8763Leu) c.26249G>T (p.Arg8750Leu) c.26234G>T (p.Arg8745Leu) c.26219G>T (p.Arg8740Leu) c.26207G>T (p.Arg8736Leu) c.26204G>T (p.Arg8735Leu) c.26201G>T (p.Arg8734Leu) c.*24G>T (n.*24G>T) c.26357G>T (p.Arg8786Leu) c.26345G>T (p.Arg8782Leu) c.26195G>T (p.Arg8732Leu) c.24635G>T (p.Arg8212Leu) c.24128G>T (p.Arg8043Leu) c.19595G>T (p.Arg6532Leu) c.26333G>T (p.Arg8778Leu) c.26282G>T (p.Arg8761Leu) c.26246G>T (p.Arg8749Leu) c.26093G>T (p.Arg8698Leu) | gnomAD v4 |
6 | g.152122617C= | CA1673189091 | ESR1,SYNE1 | c.2747G= (p.Arg916=) c.26213G= (p.Arg8738=) c.26069G= (p.Arg8690=) c.1556G= c.1931G= c.1798G= c.2063G= (n.2063G=) c.24998G= (p.Arg8333=) n.2961G= c.4989G= (n.4989G=) n.9905G= c.4092G= (n.4092G=) n.9797G= c.851-2649C= (n.851-2649C=) n.2827G= n.6850G= n.2991G= c.2678G= (p.Arg893=) c.26360G= (p.Arg8787=) c.26348G= (p.Arg8783=) c.26339G= (p.Arg8780=) c.26318G= (p.Arg8773=) c.26309G= (p.Arg8770=) c.26303G= (p.Arg8768=) c.26291G= (p.Arg8764=) c.26288G= (p.Arg8763=) c.26249G= (p.Arg8750=) c.26234G= (p.Arg8745=) c.26219G= (p.Arg8740=) c.26207G= (p.Arg8736=) c.26204G= (p.Arg8735=) c.26201G= (p.Arg8734=) c.*24G= (n.*24G=) c.26357G= (p.Arg8786=) c.26345G= (p.Arg8782=) c.26195G= (p.Arg8732=) c.24635G= (p.Arg8212=) c.24128G= (p.Arg8043=) c.19595G= (p.Arg6532=) c.26333G= (p.Arg8778=) c.26282G= (p.Arg8761=) c.26246G= (p.Arg8749=) c.26093G= (p.Arg8698=) | |
6 | g.152122617C>G | CA366089118 | ESR1,SYNE1 | c.2747G>C (p.Arg916Pro) c.26213G>C (p.Arg8738Pro) c.26069G>C (p.Arg8690Pro) c.1556G>C c.1931G>C c.1798G>C c.2063G>C (n.2063G>C) c.24998G>C (p.Arg8333Pro) n.2961G>C c.4989G>C (n.4989G>C) n.9905G>C c.4092G>C (n.4092G>C) n.9797G>C c.851-2649C>G (n.851-2649C>G) n.2827G>C n.6850G>C n.2991G>C c.2678G>C (p.Arg893Pro) c.26360G>C (p.Arg8787Pro) c.26348G>C (p.Arg8783Pro) c.26339G>C (p.Arg8780Pro) c.26318G>C (p.Arg8773Pro) c.26309G>C (p.Arg8770Pro) c.26303G>C (p.Arg8768Pro) c.26291G>C (p.Arg8764Pro) c.26288G>C (p.Arg8763Pro) c.26249G>C (p.Arg8750Pro) c.26234G>C (p.Arg8745Pro) c.26219G>C (p.Arg8740Pro) c.26207G>C (p.Arg8736Pro) c.26204G>C (p.Arg8735Pro) c.26201G>C (p.Arg8734Pro) c.*24G>C (n.*24G>C) c.26357G>C (p.Arg8786Pro) c.26345G>C (p.Arg8782Pro) c.26195G>C (p.Arg8732Pro) c.24635G>C (p.Arg8212Pro) c.24128G>C (p.Arg8043Pro) c.19595G>C (p.Arg6532Pro) c.26333G>C (p.Arg8778Pro) c.26282G>C (p.Arg8761Pro) c.26246G>C (p.Arg8749Pro) c.26093G>C (p.Arg8698Pro) | |
6 | g.152122617C>T | CA366089116 | ESR1,SYNE1 | c.2747G>A (p.Arg916His) c.26213G>A (p.Arg8738His) c.26069G>A (p.Arg8690His) c.1556G>A c.1931G>A c.1798G>A c.2063G>A (n.2063G>A) c.24998G>A (p.Arg8333His) n.2961G>A c.4989G>A (n.4989G>A) n.9905G>A c.4092G>A (n.4092G>A) n.9797G>A c.851-2649C>T (n.851-2649C>T) n.2827G>A n.6850G>A n.2991G>A c.2678G>A (p.Arg893His) c.26360G>A (p.Arg8787His) c.26348G>A (p.Arg8783His) c.26339G>A (p.Arg8780His) c.26318G>A (p.Arg8773His) c.26309G>A (p.Arg8770His) c.26303G>A (p.Arg8768His) c.26291G>A (p.Arg8764His) c.26288G>A (p.Arg8763His) c.26249G>A (p.Arg8750His) c.26234G>A (p.Arg8745His) c.26219G>A (p.Arg8740His) c.26207G>A (p.Arg8736His) c.26204G>A (p.Arg8735His) c.26201G>A (p.Arg8734His) c.*24G>A (n.*24G>A) c.26357G>A (p.Arg8786His) c.26345G>A (p.Arg8782His) c.26195G>A (p.Arg8732His) c.24635G>A (p.Arg8212His) c.24128G>A (p.Arg8043His) c.19595G>A (p.Arg6532His) c.26333G>A (p.Arg8778His) c.26282G>A (p.Arg8761His) c.26246G>A (p.Arg8749His) c.26093G>A (p.Arg8698His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122618G>A | CA4052604 | ESR1,SYNE1 | c.2746C>T (p.Arg916Cys) c.26212C>T (p.Arg8738Cys) c.26068C>T (p.Arg8690Cys) c.1555C>T c.1930C>T c.1797C>T c.2062C>T (n.2062C>T) c.24997C>T (p.Arg8333Cys) n.2960C>T c.4988C>T (n.4988C>T) n.9904C>T c.4091C>T (n.4091C>T) n.9796C>T c.851-2648G>A (n.851-2648G>A) n.2826C>T n.6849C>T n.2990C>T c.2677C>T (p.Arg893Cys) c.26359C>T (p.Arg8787Cys) c.26347C>T (p.Arg8783Cys) c.26338C>T (p.Arg8780Cys) c.26317C>T (p.Arg8773Cys) c.26308C>T (p.Arg8770Cys) c.26302C>T (p.Arg8768Cys) c.26290C>T (p.Arg8764Cys) c.26287C>T (p.Arg8763Cys) c.26248C>T (p.Arg8750Cys) c.26233C>T (p.Arg8745Cys) c.26218C>T (p.Arg8740Cys) c.26206C>T (p.Arg8736Cys) c.26203C>T (p.Arg8735Cys) c.26200C>T (p.Arg8734Cys) c.*23C>T (n.*23C>T) c.26356C>T (p.Arg8786Cys) c.26344C>T (p.Arg8782Cys) c.26194C>T (p.Arg8732Cys) c.24634C>T (p.Arg8212Cys) c.24127C>T (p.Arg8043Cys) c.19594C>T (p.Arg6532Cys) c.26332C>T (p.Arg8778Cys) c.26281C>T (p.Arg8761Cys) c.26245C>T (p.Arg8749Cys) c.26092C>T (p.Arg8698Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.152122618G>C | CA366089121 | ESR1,SYNE1 | c.2746C>G (p.Arg916Gly) c.26212C>G (p.Arg8738Gly) c.26068C>G (p.Arg8690Gly) c.1555C>G c.1930C>G c.1797C>G c.2062C>G (n.2062C>G) c.24997C>G (p.Arg8333Gly) n.2960C>G c.4988C>G (n.4988C>G) n.9904C>G c.4091C>G (n.4091C>G) n.9796C>G c.851-2648G>C (n.851-2648G>C) n.2826C>G n.6849C>G n.2990C>G c.2677C>G (p.Arg893Gly) c.26359C>G (p.Arg8787Gly) c.26347C>G (p.Arg8783Gly) c.26338C>G (p.Arg8780Gly) c.26317C>G (p.Arg8773Gly) c.26308C>G (p.Arg8770Gly) c.26302C>G (p.Arg8768Gly) c.26290C>G (p.Arg8764Gly) c.26287C>G (p.Arg8763Gly) c.26248C>G (p.Arg8750Gly) c.26233C>G (p.Arg8745Gly) c.26218C>G (p.Arg8740Gly) c.26206C>G (p.Arg8736Gly) c.26203C>G (p.Arg8735Gly) c.26200C>G (p.Arg8734Gly) c.*23C>G (n.*23C>G) c.26356C>G (p.Arg8786Gly) c.26344C>G (p.Arg8782Gly) c.26194C>G (p.Arg8732Gly) c.24634C>G (p.Arg8212Gly) c.24127C>G (p.Arg8043Gly) c.19594C>G (p.Arg6532Gly) c.26332C>G (p.Arg8778Gly) c.26281C>G (p.Arg8761Gly) c.26245C>G (p.Arg8749Gly) c.26092C>G (p.Arg8698Gly) | gnomAD v4 |
6 | g.152122618G= | CA1673189096 | ESR1,SYNE1 | c.2746C= (p.Arg916=) c.26212C= (p.Arg8738=) c.26068C= (p.Arg8690=) c.1555C= c.1930C= c.1797C= c.2062C= (n.2062C=) c.24997C= (p.Arg8333=) n.2960C= c.4988C= (n.4988C=) n.9904C= c.4091C= (n.4091C=) n.9796C= c.851-2648G= (n.851-2648G=) n.2826C= n.6849C= n.2990C= c.2677C= (p.Arg893=) c.26359C= (p.Arg8787=) c.26347C= (p.Arg8783=) c.26338C= (p.Arg8780=) c.26317C= (p.Arg8773=) c.26308C= (p.Arg8770=) c.26302C= (p.Arg8768=) c.26290C= (p.Arg8764=) c.26287C= (p.Arg8763=) c.26248C= (p.Arg8750=) c.26233C= (p.Arg8745=) c.26218C= (p.Arg8740=) c.26206C= (p.Arg8736=) c.26203C= (p.Arg8735=) c.26200C= (p.Arg8734=) c.*23C= (n.*23C=) c.26356C= (p.Arg8786=) c.26344C= (p.Arg8782=) c.26194C= (p.Arg8732=) c.24634C= (p.Arg8212=) c.24127C= (p.Arg8043=) c.19594C= (p.Arg6532=) c.26332C= (p.Arg8778=) c.26281C= (p.Arg8761=) c.26245C= (p.Arg8749=) c.26092C= (p.Arg8698=) | |
6 | g.152122618G>T | CA366089123 | ESR1,SYNE1 | c.2746C>A (p.Arg916Ser) c.26212C>A (p.Arg8738Ser) c.26068C>A (p.Arg8690Ser) c.1555C>A c.1930C>A c.1797C>A c.2062C>A (n.2062C>A) c.24997C>A (p.Arg8333Ser) n.2960C>A c.4988C>A (n.4988C>A) n.9904C>A c.4091C>A (n.4091C>A) n.9796C>A c.851-2648G>T (n.851-2648G>T) n.2826C>A n.6849C>A n.2990C>A c.2677C>A (p.Arg893Ser) c.26359C>A (p.Arg8787Ser) c.26347C>A (p.Arg8783Ser) c.26338C>A (p.Arg8780Ser) c.26317C>A (p.Arg8773Ser) c.26308C>A (p.Arg8770Ser) c.26302C>A (p.Arg8768Ser) c.26290C>A (p.Arg8764Ser) c.26287C>A (p.Arg8763Ser) c.26248C>A (p.Arg8750Ser) c.26233C>A (p.Arg8745Ser) c.26218C>A (p.Arg8740Ser) c.26206C>A (p.Arg8736Ser) c.26203C>A (p.Arg8735Ser) c.26200C>A (p.Arg8734Ser) c.*23C>A (n.*23C>A) c.26356C>A (p.Arg8786Ser) c.26344C>A (p.Arg8782Ser) c.26194C>A (p.Arg8732Ser) c.24634C>A (p.Arg8212Ser) c.24127C>A (p.Arg8043Ser) c.19594C>A (p.Arg6532Ser) c.26332C>A (p.Arg8778Ser) c.26281C>A (p.Arg8761Ser) c.26245C>A (p.Arg8749Ser) c.26092C>A (p.Arg8698Ser) | |
6 | g.152122619G>A | CA452969655 | ESR1,SYNE1 | c.2745C>T (p.Gly915=) c.26211C>T (p.Gly8737=) c.26067C>T (p.Gly8689=) c.1554C>T c.1929C>T c.1796C>T c.2061C>T (n.2061C>T) c.24996C>T (p.Gly8332=) n.2959C>T c.4987C>T (n.4987C>T) n.9903C>T c.4090C>T (n.4090C>T) n.9795C>T c.851-2647G>A (n.851-2647G>A) n.2825C>T n.6848C>T n.2989C>T c.2676C>T (p.Gly892=) c.26358C>T (p.Gly8786=) c.26346C>T (p.Gly8782=) c.26337C>T (p.Gly8779=) c.26316C>T (p.Gly8772=) c.26307C>T (p.Gly8769=) c.26301C>T (p.Gly8767=) c.26289C>T (p.Gly8763=) c.26286C>T (p.Gly8762=) c.26247C>T (p.Gly8749=) c.26232C>T (p.Gly8744=) c.26217C>T (p.Gly8739=) c.26205C>T (p.Gly8735=) c.26202C>T (p.Gly8734=) c.26199C>T (p.Gly8733=) c.*22C>T (n.*22C>T) c.26355C>T (p.Gly8785=) c.26343C>T (p.Gly8781=) c.26193C>T (p.Gly8731=) c.24633C>T (p.Gly8211=) c.24126C>T (p.Gly8042=) c.19593C>T (p.Gly6531=) c.26331C>T (p.Gly8777=) c.26280C>T (p.Gly8760=) c.26244C>T (p.Gly8748=) c.26091C>T (p.Gly8697=) | |
6 | g.152122619G>C | CA452969656 | ESR1,SYNE1 | c.2745C>G (p.Gly915=) c.26211C>G (p.Gly8737=) c.26067C>G (p.Gly8689=) c.1554C>G c.1929C>G c.1796C>G c.2061C>G (n.2061C>G) c.24996C>G (p.Gly8332=) n.2959C>G c.4987C>G (n.4987C>G) n.9903C>G c.4090C>G (n.4090C>G) n.9795C>G c.851-2647G>C (n.851-2647G>C) n.2825C>G n.6848C>G n.2989C>G c.2676C>G (p.Gly892=) c.26358C>G (p.Gly8786=) c.26346C>G (p.Gly8782=) c.26337C>G (p.Gly8779=) c.26316C>G (p.Gly8772=) c.26307C>G (p.Gly8769=) c.26301C>G (p.Gly8767=) c.26289C>G (p.Gly8763=) c.26286C>G (p.Gly8762=) c.26247C>G (p.Gly8749=) c.26232C>G (p.Gly8744=) c.26217C>G (p.Gly8739=) c.26205C>G (p.Gly8735=) c.26202C>G (p.Gly8734=) c.26199C>G (p.Gly8733=) c.*22C>G (n.*22C>G) c.26355C>G (p.Gly8785=) c.26343C>G (p.Gly8781=) c.26193C>G (p.Gly8731=) c.24633C>G (p.Gly8211=) c.24126C>G (p.Gly8042=) c.19593C>G (p.Gly6531=) c.26331C>G (p.Gly8777=) c.26280C>G (p.Gly8760=) c.26244C>G (p.Gly8748=) c.26091C>G (p.Gly8697=) | |
6 | g.152122619G>T | CA452969657 | ESR1,SYNE1 | c.2745C>A (p.Gly915=) c.26211C>A (p.Gly8737=) c.26067C>A (p.Gly8689=) c.1554C>A c.1929C>A c.1796C>A c.2061C>A (n.2061C>A) c.24996C>A (p.Gly8332=) n.2959C>A c.4987C>A (n.4987C>A) n.9903C>A c.4090C>A (n.4090C>A) n.9795C>A c.851-2647G>T (n.851-2647G>T) n.2825C>A n.6848C>A n.2989C>A c.2676C>A (p.Gly892=) c.26358C>A (p.Gly8786=) c.26346C>A (p.Gly8782=) c.26337C>A (p.Gly8779=) c.26316C>A (p.Gly8772=) c.26307C>A (p.Gly8769=) c.26301C>A (p.Gly8767=) c.26289C>A (p.Gly8763=) c.26286C>A (p.Gly8762=) c.26247C>A (p.Gly8749=) c.26232C>A (p.Gly8744=) c.26217C>A (p.Gly8739=) c.26205C>A (p.Gly8735=) c.26202C>A (p.Gly8734=) c.26199C>A (p.Gly8733=) c.*22C>A (n.*22C>A) c.26355C>A (p.Gly8785=) c.26343C>A (p.Gly8781=) c.26193C>A (p.Gly8731=) c.24633C>A (p.Gly8211=) c.24126C>A (p.Gly8042=) c.19593C>A (p.Gly6531=) c.26331C>A (p.Gly8777=) c.26280C>A (p.Gly8760=) c.26244C>A (p.Gly8748=) c.26091C>A (p.Gly8697=) | |
6 | g.152122620C>A | CA4052605 | ESR1,SYNE1 | c.2744G>T (p.Gly915Val) c.26210G>T (p.Gly8737Val) c.26066G>T (p.Gly8689Val) c.1553G>T c.1928G>T c.1795G>T c.2060G>T (n.2060G>T) c.24995G>T (p.Gly8332Val) n.2958G>T c.4986G>T (n.4986G>T) n.9902G>T c.4089G>T (n.4089G>T) n.9794G>T c.851-2646C>A (n.851-2646C>A) n.2824G>T n.6847G>T n.2988G>T c.2675G>T (p.Gly892Val) c.26357G>T (p.Gly8786Val) c.26345G>T (p.Gly8782Val) c.26336G>T (p.Gly8779Val) c.26315G>T (p.Gly8772Val) c.26306G>T (p.Gly8769Val) c.26300G>T (p.Gly8767Val) c.26288G>T (p.Gly8763Val) c.26285G>T (p.Gly8762Val) c.26246G>T (p.Gly8749Val) c.26231G>T (p.Gly8744Val) c.26216G>T (p.Gly8739Val) c.26204G>T (p.Gly8735Val) c.26201G>T (p.Gly8734Val) c.26198G>T (p.Gly8733Val) c.*21G>T (n.*21G>T) c.26354G>T (p.Gly8785Val) c.26342G>T (p.Gly8781Val) c.26192G>T (p.Gly8731Val) c.24632G>T (p.Gly8211Val) c.24125G>T (p.Gly8042Val) c.19592G>T (p.Gly6531Val) c.26330G>T (p.Gly8777Val) c.26279G>T (p.Gly8760Val) c.26243G>T (p.Gly8748Val) c.26090G>T (p.Gly8697Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122620C= | CA1673189106 | ESR1,SYNE1 | c.2744G= (p.Gly915=) c.26210G= (p.Gly8737=) c.26066G= (p.Gly8689=) c.1553G= c.1928G= c.1795G= c.2060G= (n.2060G=) c.24995G= (p.Gly8332=) n.2958G= c.4986G= (n.4986G=) n.9902G= c.4089G= (n.4089G=) n.9794G= c.851-2646C= (n.851-2646C=) n.2824G= n.6847G= n.2988G= c.2675G= (p.Gly892=) c.26357G= (p.Gly8786=) c.26345G= (p.Gly8782=) c.26336G= (p.Gly8779=) c.26315G= (p.Gly8772=) c.26306G= (p.Gly8769=) c.26300G= (p.Gly8767=) c.26288G= (p.Gly8763=) c.26285G= (p.Gly8762=) c.26246G= (p.Gly8749=) c.26231G= (p.Gly8744=) c.26216G= (p.Gly8739=) c.26204G= (p.Gly8735=) c.26201G= (p.Gly8734=) c.26198G= (p.Gly8733=) c.*21G= (n.*21G=) c.26354G= (p.Gly8785=) c.26342G= (p.Gly8781=) c.26192G= (p.Gly8731=) c.24632G= (p.Gly8211=) c.24125G= (p.Gly8042=) c.19592G= (p.Gly6531=) c.26330G= (p.Gly8777=) c.26279G= (p.Gly8760=) c.26243G= (p.Gly8748=) c.26090G= (p.Gly8697=) | |
6 | g.152122620C>G | CA366089128 | ESR1,SYNE1 | c.2744G>C (p.Gly915Ala) c.26210G>C (p.Gly8737Ala) c.26066G>C (p.Gly8689Ala) c.1553G>C c.1928G>C c.1795G>C c.2060G>C (n.2060G>C) c.24995G>C (p.Gly8332Ala) n.2958G>C c.4986G>C (n.4986G>C) n.9902G>C c.4089G>C (n.4089G>C) n.9794G>C c.851-2646C>G (n.851-2646C>G) n.2824G>C n.6847G>C n.2988G>C c.2675G>C (p.Gly892Ala) c.26357G>C (p.Gly8786Ala) c.26345G>C (p.Gly8782Ala) c.26336G>C (p.Gly8779Ala) c.26315G>C (p.Gly8772Ala) c.26306G>C (p.Gly8769Ala) c.26300G>C (p.Gly8767Ala) c.26288G>C (p.Gly8763Ala) c.26285G>C (p.Gly8762Ala) c.26246G>C (p.Gly8749Ala) c.26231G>C (p.Gly8744Ala) c.26216G>C (p.Gly8739Ala) c.26204G>C (p.Gly8735Ala) c.26201G>C (p.Gly8734Ala) c.26198G>C (p.Gly8733Ala) c.*21G>C (n.*21G>C) c.26354G>C (p.Gly8785Ala) c.26342G>C (p.Gly8781Ala) c.26192G>C (p.Gly8731Ala) c.24632G>C (p.Gly8211Ala) c.24125G>C (p.Gly8042Ala) c.19592G>C (p.Gly6531Ala) c.26330G>C (p.Gly8777Ala) c.26279G>C (p.Gly8760Ala) c.26243G>C (p.Gly8748Ala) c.26090G>C (p.Gly8697Ala) | |
6 | g.152122620C>T | CA366089126 | ESR1,SYNE1 | c.2744G>A (p.Gly915Asp) c.26210G>A (p.Gly8737Asp) c.26066G>A (p.Gly8689Asp) c.1553G>A c.1928G>A c.1795G>A c.2060G>A (n.2060G>A) c.24995G>A (p.Gly8332Asp) n.2958G>A c.4986G>A (n.4986G>A) n.9902G>A c.4089G>A (n.4089G>A) n.9794G>A c.851-2646C>T (n.851-2646C>T) n.2824G>A n.6847G>A n.2988G>A c.2675G>A (p.Gly892Asp) c.26357G>A (p.Gly8786Asp) c.26345G>A (p.Gly8782Asp) c.26336G>A (p.Gly8779Asp) c.26315G>A (p.Gly8772Asp) c.26306G>A (p.Gly8769Asp) c.26300G>A (p.Gly8767Asp) c.26288G>A (p.Gly8763Asp) c.26285G>A (p.Gly8762Asp) c.26246G>A (p.Gly8749Asp) c.26231G>A (p.Gly8744Asp) c.26216G>A (p.Gly8739Asp) c.26204G>A (p.Gly8735Asp) c.26201G>A (p.Gly8734Asp) c.26198G>A (p.Gly8733Asp) c.*21G>A (n.*21G>A) c.26354G>A (p.Gly8785Asp) c.26342G>A (p.Gly8781Asp) c.26192G>A (p.Gly8731Asp) c.24632G>A (p.Gly8211Asp) c.24125G>A (p.Gly8042Asp) c.19592G>A (p.Gly6531Asp) c.26330G>A (p.Gly8777Asp) c.26279G>A (p.Gly8760Asp) c.26243G>A (p.Gly8748Asp) c.26090G>A (p.Gly8697Asp) | COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122621C>A | CA366089130 | ESR1,SYNE1 | c.2743G>T (p.Gly915Cys) c.26209G>T (p.Gly8737Cys) c.26065G>T (p.Gly8689Cys) c.1552G>T c.1927G>T c.1794G>T c.2059G>T (n.2059G>T) c.24994G>T (p.Gly8332Cys) n.2957G>T c.4985G>T (n.4985G>T) n.9901G>T c.4088G>T (n.4088G>T) n.9793G>T c.851-2645C>A (n.851-2645C>A) n.2823G>T n.6846G>T n.2987G>T c.2674G>T (p.Gly892Cys) c.26356G>T (p.Gly8786Cys) c.26344G>T (p.Gly8782Cys) c.26335G>T (p.Gly8779Cys) c.26314G>T (p.Gly8772Cys) c.26305G>T (p.Gly8769Cys) c.26299G>T (p.Gly8767Cys) c.26287G>T (p.Gly8763Cys) c.26284G>T (p.Gly8762Cys) c.26245G>T (p.Gly8749Cys) c.26230G>T (p.Gly8744Cys) c.26215G>T (p.Gly8739Cys) c.26203G>T (p.Gly8735Cys) c.26200G>T (p.Gly8734Cys) c.26197G>T (p.Gly8733Cys) c.*20G>T (n.*20G>T) c.26353G>T (p.Gly8785Cys) c.26341G>T (p.Gly8781Cys) c.26191G>T (p.Gly8731Cys) c.24631G>T (p.Gly8211Cys) c.24124G>T (p.Gly8042Cys) c.19591G>T (p.Gly6531Cys) c.26329G>T (p.Gly8777Cys) c.26278G>T (p.Gly8760Cys) c.26242G>T (p.Gly8748Cys) c.26089G>T (p.Gly8697Cys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122621C= | CA1673189119 | ESR1,SYNE1 | c.2743G= (p.Gly915=) c.26209G= (p.Gly8737=) c.26065G= (p.Gly8689=) c.1552G= c.1927G= c.1794G= c.2059G= (n.2059G=) c.24994G= (p.Gly8332=) n.2957G= c.4985G= (n.4985G=) n.9901G= c.4088G= (n.4088G=) n.9793G= c.851-2645C= (n.851-2645C=) n.2823G= n.6846G= n.2987G= c.2674G= (p.Gly892=) c.26356G= (p.Gly8786=) c.26344G= (p.Gly8782=) c.26335G= (p.Gly8779=) c.26314G= (p.Gly8772=) c.26305G= (p.Gly8769=) c.26299G= (p.Gly8767=) c.26287G= (p.Gly8763=) c.26284G= (p.Gly8762=) c.26245G= (p.Gly8749=) c.26230G= (p.Gly8744=) c.26215G= (p.Gly8739=) c.26203G= (p.Gly8735=) c.26200G= (p.Gly8734=) c.26197G= (p.Gly8733=) c.*20G= (n.*20G=) c.26353G= (p.Gly8785=) c.26341G= (p.Gly8781=) c.26191G= (p.Gly8731=) c.24631G= (p.Gly8211=) c.24124G= (p.Gly8042=) c.19591G= (p.Gly6531=) c.26329G= (p.Gly8777=) c.26278G= (p.Gly8760=) c.26242G= (p.Gly8748=) c.26089G= (p.Gly8697=) | |
6 | g.152122621C>G | CA366089132 | ESR1,SYNE1 | c.2743G>C (p.Gly915Arg) c.26209G>C (p.Gly8737Arg) c.26065G>C (p.Gly8689Arg) c.1552G>C c.1927G>C c.1794G>C c.2059G>C (n.2059G>C) c.24994G>C (p.Gly8332Arg) n.2957G>C c.4985G>C (n.4985G>C) n.9901G>C c.4088G>C (n.4088G>C) n.9793G>C c.851-2645C>G (n.851-2645C>G) n.2823G>C n.6846G>C n.2987G>C c.2674G>C (p.Gly892Arg) c.26356G>C (p.Gly8786Arg) c.26344G>C (p.Gly8782Arg) c.26335G>C (p.Gly8779Arg) c.26314G>C (p.Gly8772Arg) c.26305G>C (p.Gly8769Arg) c.26299G>C (p.Gly8767Arg) c.26287G>C (p.Gly8763Arg) c.26284G>C (p.Gly8762Arg) c.26245G>C (p.Gly8749Arg) c.26230G>C (p.Gly8744Arg) c.26215G>C (p.Gly8739Arg) c.26203G>C (p.Gly8735Arg) c.26200G>C (p.Gly8734Arg) c.26197G>C (p.Gly8733Arg) c.*20G>C (n.*20G>C) c.26353G>C (p.Gly8785Arg) c.26341G>C (p.Gly8781Arg) c.26191G>C (p.Gly8731Arg) c.24631G>C (p.Gly8211Arg) c.24124G>C (p.Gly8042Arg) c.19591G>C (p.Gly6531Arg) c.26329G>C (p.Gly8777Arg) c.26278G>C (p.Gly8760Arg) c.26242G>C (p.Gly8748Arg) c.26089G>C (p.Gly8697Arg) | |
6 | g.152122621C>T | CA155449 | ESR1,SYNE1 | c.2743G>A (p.Gly915Ser) c.26209G>A (p.Gly8737Ser) c.26065G>A (p.Gly8689Ser) c.1552G>A c.1927G>A c.1794G>A c.2059G>A (n.2059G>A) c.24994G>A (p.Gly8332Ser) n.2957G>A c.4985G>A (n.4985G>A) n.9901G>A c.4088G>A (n.4088G>A) n.9793G>A c.851-2645C>T (n.851-2645C>T) n.2823G>A n.6846G>A n.2987G>A c.2674G>A (p.Gly892Ser) c.26356G>A (p.Gly8786Ser) c.26344G>A (p.Gly8782Ser) c.26335G>A (p.Gly8779Ser) c.26314G>A (p.Gly8772Ser) c.26305G>A (p.Gly8769Ser) c.26299G>A (p.Gly8767Ser) c.26287G>A (p.Gly8763Ser) c.26284G>A (p.Gly8762Ser) c.26245G>A (p.Gly8749Ser) c.26230G>A (p.Gly8744Ser) c.26215G>A (p.Gly8739Ser) c.26203G>A (p.Gly8735Ser) c.26200G>A (p.Gly8734Ser) c.26197G>A (p.Gly8733Ser) c.*20G>A (n.*20G>A) c.26353G>A (p.Gly8785Ser) c.26341G>A (p.Gly8781Ser) c.26191G>A (p.Gly8731Ser) c.24631G>A (p.Gly8211Ser) c.24124G>A (p.Gly8042Ser) c.19591G>A (p.Gly6531Ser) c.26329G>A (p.Gly8777Ser) c.26278G>A (p.Gly8760Ser) c.26242G>A (p.Gly8748Ser) c.26089G>A (p.Gly8697Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122622G>A | CA4052606 | ESR1,SYNE1 | c.2742C>T (p.Ser914=) c.26208C>T (p.Ser8736=) c.26064C>T (p.Ser8688=) c.1551C>T c.1926C>T c.1793C>T c.2058C>T (n.2058C>T) c.24993C>T (p.Ser8331=) n.2956C>T c.4984C>T (n.4984C>T) n.9900C>T c.4087C>T (n.4087C>T) n.9792C>T c.851-2644G>A (n.851-2644G>A) n.2822C>T n.6845C>T n.2986C>T c.2673C>T (p.Ser891=) c.26355C>T (p.Ser8785=) c.26343C>T (p.Ser8781=) c.26334C>T (p.Ser8778=) c.26313C>T (p.Ser8771=) c.26304C>T (p.Ser8768=) c.26298C>T (p.Ser8766=) c.26286C>T (p.Ser8762=) c.26283C>T (p.Ser8761=) c.26244C>T (p.Ser8748=) c.26229C>T (p.Ser8743=) c.26214C>T (p.Ser8738=) c.26202C>T (p.Ser8734=) c.26199C>T (p.Ser8733=) c.26196C>T (p.Ser8732=) c.*19C>T (n.*19C>T) c.26352C>T (p.Ser8784=) c.26340C>T (p.Ser8780=) c.26190C>T (p.Ser8730=) c.24630C>T (p.Ser8210=) c.24123C>T (p.Ser8041=) c.19590C>T (p.Ser6530=) c.26328C>T (p.Ser8776=) c.26277C>T (p.Ser8759=) c.26241C>T (p.Ser8747=) c.26088C>T (p.Ser8696=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122622G>C | CA452969661 | ESR1,SYNE1 | c.2742C>G (p.Ser914=) c.26208C>G (p.Ser8736=) c.26064C>G (p.Ser8688=) c.1551C>G c.1926C>G c.1793C>G c.2058C>G (n.2058C>G) c.24993C>G (p.Ser8331=) n.2956C>G c.4984C>G (n.4984C>G) n.9900C>G c.4087C>G (n.4087C>G) n.9792C>G c.851-2644G>C (n.851-2644G>C) n.2822C>G n.6845C>G n.2986C>G c.2673C>G (p.Ser891=) c.26355C>G (p.Ser8785=) c.26343C>G (p.Ser8781=) c.26334C>G (p.Ser8778=) c.26313C>G (p.Ser8771=) c.26304C>G (p.Ser8768=) c.26298C>G (p.Ser8766=) c.26286C>G (p.Ser8762=) c.26283C>G (p.Ser8761=) c.26244C>G (p.Ser8748=) c.26229C>G (p.Ser8743=) c.26214C>G (p.Ser8738=) c.26202C>G (p.Ser8734=) c.26199C>G (p.Ser8733=) c.26196C>G (p.Ser8732=) c.*19C>G (n.*19C>G) c.26352C>G (p.Ser8784=) c.26340C>G (p.Ser8780=) c.26190C>G (p.Ser8730=) c.24630C>G (p.Ser8210=) c.24123C>G (p.Ser8041=) c.19590C>G (p.Ser6530=) c.26328C>G (p.Ser8776=) c.26277C>G (p.Ser8759=) c.26241C>G (p.Ser8747=) c.26088C>G (p.Ser8696=) | |
6 | g.152122622G= | CA1673189128 | ESR1,SYNE1 | c.2742C= (p.Ser914=) c.26208C= (p.Ser8736=) c.26064C= (p.Ser8688=) c.1551C= c.1926C= c.1793C= c.2058C= (n.2058C=) c.24993C= (p.Ser8331=) n.2956C= c.4984C= (n.4984C=) n.9900C= c.4087C= (n.4087C=) n.9792C= c.851-2644G= (n.851-2644G=) n.2822C= n.6845C= n.2986C= c.2673C= (p.Ser891=) c.26355C= (p.Ser8785=) c.26343C= (p.Ser8781=) c.26334C= (p.Ser8778=) c.26313C= (p.Ser8771=) c.26304C= (p.Ser8768=) c.26298C= (p.Ser8766=) c.26286C= (p.Ser8762=) c.26283C= (p.Ser8761=) c.26244C= (p.Ser8748=) c.26229C= (p.Ser8743=) c.26214C= (p.Ser8738=) c.26202C= (p.Ser8734=) c.26199C= (p.Ser8733=) c.26196C= (p.Ser8732=) c.*19C= (n.*19C=) c.26352C= (p.Ser8784=) c.26340C= (p.Ser8780=) c.26190C= (p.Ser8730=) c.24630C= (p.Ser8210=) c.24123C= (p.Ser8041=) c.19590C= (p.Ser6530=) c.26328C= (p.Ser8776=) c.26277C= (p.Ser8759=) c.26241C= (p.Ser8747=) c.26088C= (p.Ser8696=) | |
6 | g.152122622G>T | CA452969662 | ESR1,SYNE1 | c.2742C>A (p.Ser914=) c.26208C>A (p.Ser8736=) c.26064C>A (p.Ser8688=) c.1551C>A c.1926C>A c.1793C>A c.2058C>A (n.2058C>A) c.24993C>A (p.Ser8331=) n.2956C>A c.4984C>A (n.4984C>A) n.9900C>A c.4087C>A (n.4087C>A) n.9792C>A c.851-2644G>T (n.851-2644G>T) n.2822C>A n.6845C>A n.2986C>A c.2673C>A (p.Ser891=) c.26355C>A (p.Ser8785=) c.26343C>A (p.Ser8781=) c.26334C>A (p.Ser8778=) c.26313C>A (p.Ser8771=) c.26304C>A (p.Ser8768=) c.26298C>A (p.Ser8766=) c.26286C>A (p.Ser8762=) c.26283C>A (p.Ser8761=) c.26244C>A (p.Ser8748=) c.26229C>A (p.Ser8743=) c.26214C>A (p.Ser8738=) c.26202C>A (p.Ser8734=) c.26199C>A (p.Ser8733=) c.26196C>A (p.Ser8732=) c.*19C>A (n.*19C>A) c.26352C>A (p.Ser8784=) c.26340C>A (p.Ser8780=) c.26190C>A (p.Ser8730=) c.24630C>A (p.Ser8210=) c.24123C>A (p.Ser8041=) c.19590C>A (p.Ser6530=) c.26328C>A (p.Ser8776=) c.26277C>A (p.Ser8759=) c.26241C>A (p.Ser8747=) c.26088C>A (p.Ser8696=) | |
6 | g.152122623G>A | CA366089135 | ESR1,SYNE1 | c.2741C>T (p.Ser914Phe) c.26207C>T (p.Ser8736Phe) c.26063C>T (p.Ser8688Phe) c.1550C>T c.1925C>T c.1792C>T c.2057C>T (n.2057C>T) c.24992C>T (p.Ser8331Phe) n.2955C>T c.4983C>T (n.4983C>T) n.9899C>T c.4086C>T (n.4086C>T) n.9791C>T c.851-2643G>A (n.851-2643G>A) n.2821C>T n.6844C>T n.2985C>T c.2672C>T (p.Ser891Phe) c.26354C>T (p.Ser8785Phe) c.26342C>T (p.Ser8781Phe) c.26333C>T (p.Ser8778Phe) c.26312C>T (p.Ser8771Phe) c.26303C>T (p.Ser8768Phe) c.26297C>T (p.Ser8766Phe) c.26285C>T (p.Ser8762Phe) c.26282C>T (p.Ser8761Phe) c.26243C>T (p.Ser8748Phe) c.26228C>T (p.Ser8743Phe) c.26213C>T (p.Ser8738Phe) c.26201C>T (p.Ser8734Phe) c.26198C>T (p.Ser8733Phe) c.26195C>T (p.Ser8732Phe) c.*18C>T (n.*18C>T) c.26351C>T (p.Ser8784Phe) c.26339C>T (p.Ser8780Phe) c.26189C>T (p.Ser8730Phe) c.24629C>T (p.Ser8210Phe) c.24122C>T (p.Ser8041Phe) c.19589C>T (p.Ser6530Phe) c.26327C>T (p.Ser8776Phe) c.26276C>T (p.Ser8759Phe) c.26240C>T (p.Ser8747Phe) c.26087C>T (p.Ser8696Phe) | dbSNP |
6 | g.152122623G>C | CA366089137 | ESR1,SYNE1 | c.2741C>G (p.Ser914Cys) c.26207C>G (p.Ser8736Cys) c.26063C>G (p.Ser8688Cys) c.1550C>G c.1925C>G c.1792C>G c.2057C>G (n.2057C>G) c.24992C>G (p.Ser8331Cys) n.2955C>G c.4983C>G (n.4983C>G) n.9899C>G c.4086C>G (n.4086C>G) n.9791C>G c.851-2643G>C (n.851-2643G>C) n.2821C>G n.6844C>G n.2985C>G c.2672C>G (p.Ser891Cys) c.26354C>G (p.Ser8785Cys) c.26342C>G (p.Ser8781Cys) c.26333C>G (p.Ser8778Cys) c.26312C>G (p.Ser8771Cys) c.26303C>G (p.Ser8768Cys) c.26297C>G (p.Ser8766Cys) c.26285C>G (p.Ser8762Cys) c.26282C>G (p.Ser8761Cys) c.26243C>G (p.Ser8748Cys) c.26228C>G (p.Ser8743Cys) c.26213C>G (p.Ser8738Cys) c.26201C>G (p.Ser8734Cys) c.26198C>G (p.Ser8733Cys) c.26195C>G (p.Ser8732Cys) c.*18C>G (n.*18C>G) c.26351C>G (p.Ser8784Cys) c.26339C>G (p.Ser8780Cys) c.26189C>G (p.Ser8730Cys) c.24629C>G (p.Ser8210Cys) c.24122C>G (p.Ser8041Cys) c.19589C>G (p.Ser6530Cys) c.26327C>G (p.Ser8776Cys) c.26276C>G (p.Ser8759Cys) c.26240C>G (p.Ser8747Cys) c.26087C>G (p.Ser8696Cys) | gnomAD v4 |
6 | g.152122623G= | CA1673189139 | ESR1,SYNE1 | c.2741C= (p.Ser914=) c.26207C= (p.Ser8736=) c.26063C= (p.Ser8688=) c.1550C= c.1925C= c.1792C= c.2057C= (n.2057C=) c.24992C= (p.Ser8331=) n.2955C= c.4983C= (n.4983C=) n.9899C= c.4086C= (n.4086C=) n.9791C= c.851-2643G= (n.851-2643G=) n.2821C= n.6844C= n.2985C= c.2672C= (p.Ser891=) c.26354C= (p.Ser8785=) c.26342C= (p.Ser8781=) c.26333C= (p.Ser8778=) c.26312C= (p.Ser8771=) c.26303C= (p.Ser8768=) c.26297C= (p.Ser8766=) c.26285C= (p.Ser8762=) c.26282C= (p.Ser8761=) c.26243C= (p.Ser8748=) c.26228C= (p.Ser8743=) c.26213C= (p.Ser8738=) c.26201C= (p.Ser8734=) c.26198C= (p.Ser8733=) c.26195C= (p.Ser8732=) c.*18C= (n.*18C=) c.26351C= (p.Ser8784=) c.26339C= (p.Ser8780=) c.26189C= (p.Ser8730=) c.24629C= (p.Ser8210=) c.24122C= (p.Ser8041=) c.19589C= (p.Ser6530=) c.26327C= (p.Ser8776=) c.26276C= (p.Ser8759=) c.26240C= (p.Ser8747=) c.26087C= (p.Ser8696=) | |
6 | g.152122623G>T | CA366089139 | ESR1,SYNE1 | c.2741C>A (p.Ser914Tyr) c.26207C>A (p.Ser8736Tyr) c.26063C>A (p.Ser8688Tyr) c.1550C>A c.1925C>A c.1792C>A c.2057C>A (n.2057C>A) c.24992C>A (p.Ser8331Tyr) n.2955C>A c.4983C>A (n.4983C>A) n.9899C>A c.4086C>A (n.4086C>A) n.9791C>A c.851-2643G>T (n.851-2643G>T) n.2821C>A n.6844C>A n.2985C>A c.2672C>A (p.Ser891Tyr) c.26354C>A (p.Ser8785Tyr) c.26342C>A (p.Ser8781Tyr) c.26333C>A (p.Ser8778Tyr) c.26312C>A (p.Ser8771Tyr) c.26303C>A (p.Ser8768Tyr) c.26297C>A (p.Ser8766Tyr) c.26285C>A (p.Ser8762Tyr) c.26282C>A (p.Ser8761Tyr) c.26243C>A (p.Ser8748Tyr) c.26228C>A (p.Ser8743Tyr) c.26213C>A (p.Ser8738Tyr) c.26201C>A (p.Ser8734Tyr) c.26198C>A (p.Ser8733Tyr) c.26195C>A (p.Ser8732Tyr) c.*18C>A (n.*18C>A) c.26351C>A (p.Ser8784Tyr) c.26339C>A (p.Ser8780Tyr) c.26189C>A (p.Ser8730Tyr) c.24629C>A (p.Ser8210Tyr) c.24122C>A (p.Ser8041Tyr) c.19589C>A (p.Ser6530Tyr) c.26327C>A (p.Ser8776Tyr) c.26276C>A (p.Ser8759Tyr) c.26240C>A (p.Ser8747Tyr) c.26087C>A (p.Ser8696Tyr) | ClinVar dbSNP |
6 | g.152122624A= | CA1673189156 | ESR1,SYNE1 | c.2740T= (p.Ser914=) c.26206T= (p.Ser8736=) c.26062T= (p.Ser8688=) c.1549T= c.1924T= c.1791T= c.2056T= (n.2056T=) c.24991T= (p.Ser8331=) n.2954T= c.4982T= (n.4982T=) n.9898T= c.4085T= (n.4085T=) n.9790T= c.851-2642A= (n.851-2642A=) n.2820T= n.6843T= n.2984T= c.2671T= (p.Ser891=) c.26353T= (p.Ser8785=) c.26341T= (p.Ser8781=) c.26332T= (p.Ser8778=) c.26311T= (p.Ser8771=) c.26302T= (p.Ser8768=) c.26296T= (p.Ser8766=) c.26284T= (p.Ser8762=) c.26281T= (p.Ser8761=) c.26242T= (p.Ser8748=) c.26227T= (p.Ser8743=) c.26212T= (p.Ser8738=) c.26200T= (p.Ser8734=) c.26197T= (p.Ser8733=) c.26194T= (p.Ser8732=) c.*17T= (n.*17T=) c.26350T= (p.Ser8784=) c.26338T= (p.Ser8780=) c.26188T= (p.Ser8730=) c.24628T= (p.Ser8210=) c.24121T= (p.Ser8041=) c.19588T= (p.Ser6530=) c.26326T= (p.Ser8776=) c.26275T= (p.Ser8759=) c.26239T= (p.Ser8747=) c.26086T= (p.Ser8696=) | |
6 | g.152122624A>C | CA10606609 | ESR1,SYNE1 | c.2740T>G (p.Ser914Ala) c.26206T>G (p.Ser8736Ala) c.26062T>G (p.Ser8688Ala) c.1549T>G c.1924T>G c.1791T>G c.2056T>G (n.2056T>G) c.24991T>G (p.Ser8331Ala) n.2954T>G c.4982T>G (n.4982T>G) n.9898T>G c.4085T>G (n.4085T>G) n.9790T>G c.851-2642A>C (n.851-2642A>C) n.2820T>G n.6843T>G n.2984T>G c.2671T>G (p.Ser891Ala) c.26353T>G (p.Ser8785Ala) c.26341T>G (p.Ser8781Ala) c.26332T>G (p.Ser8778Ala) c.26311T>G (p.Ser8771Ala) c.26302T>G (p.Ser8768Ala) c.26296T>G (p.Ser8766Ala) c.26284T>G (p.Ser8762Ala) c.26281T>G (p.Ser8761Ala) c.26242T>G (p.Ser8748Ala) c.26227T>G (p.Ser8743Ala) c.26212T>G (p.Ser8738Ala) c.26200T>G (p.Ser8734Ala) c.26197T>G (p.Ser8733Ala) c.26194T>G (p.Ser8732Ala) c.*17T>G (n.*17T>G) c.26350T>G (p.Ser8784Ala) c.26338T>G (p.Ser8780Ala) c.26188T>G (p.Ser8730Ala) c.24628T>G (p.Ser8210Ala) c.24121T>G (p.Ser8041Ala) c.19588T>G (p.Ser6530Ala) c.26326T>G (p.Ser8776Ala) c.26275T>G (p.Ser8759Ala) c.26239T>G (p.Ser8747Ala) c.26086T>G (p.Ser8696Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122624A>G | CA366089142 | ESR1,SYNE1 | c.2740T>C (p.Ser914Pro) c.26206T>C (p.Ser8736Pro) c.26062T>C (p.Ser8688Pro) c.1549T>C c.1924T>C c.1791T>C c.2056T>C (n.2056T>C) c.24991T>C (p.Ser8331Pro) n.2954T>C c.4982T>C (n.4982T>C) n.9898T>C c.4085T>C (n.4085T>C) n.9790T>C c.851-2642A>G (n.851-2642A>G) n.2820T>C n.6843T>C n.2984T>C c.2671T>C (p.Ser891Pro) c.26353T>C (p.Ser8785Pro) c.26341T>C (p.Ser8781Pro) c.26332T>C (p.Ser8778Pro) c.26311T>C (p.Ser8771Pro) c.26302T>C (p.Ser8768Pro) c.26296T>C (p.Ser8766Pro) c.26284T>C (p.Ser8762Pro) c.26281T>C (p.Ser8761Pro) c.26242T>C (p.Ser8748Pro) c.26227T>C (p.Ser8743Pro) c.26212T>C (p.Ser8738Pro) c.26200T>C (p.Ser8734Pro) c.26197T>C (p.Ser8733Pro) c.26194T>C (p.Ser8732Pro) c.*17T>C (n.*17T>C) c.26350T>C (p.Ser8784Pro) c.26338T>C (p.Ser8780Pro) c.26188T>C (p.Ser8730Pro) c.24628T>C (p.Ser8210Pro) c.24121T>C (p.Ser8041Pro) c.19588T>C (p.Ser6530Pro) c.26326T>C (p.Ser8776Pro) c.26275T>C (p.Ser8759Pro) c.26239T>C (p.Ser8747Pro) c.26086T>C (p.Ser8696Pro) | |
6 | g.152122624A>T | CA366089144 | ESR1,SYNE1 | c.2740T>A (p.Ser914Thr) c.26206T>A (p.Ser8736Thr) c.26062T>A (p.Ser8688Thr) c.1549T>A c.1924T>A c.1791T>A c.2056T>A (n.2056T>A) c.24991T>A (p.Ser8331Thr) n.2954T>A c.4982T>A (n.4982T>A) n.9898T>A c.4085T>A (n.4085T>A) n.9790T>A c.851-2642A>T (n.851-2642A>T) n.2820T>A n.6843T>A n.2984T>A c.2671T>A (p.Ser891Thr) c.26353T>A (p.Ser8785Thr) c.26341T>A (p.Ser8781Thr) c.26332T>A (p.Ser8778Thr) c.26311T>A (p.Ser8771Thr) c.26302T>A (p.Ser8768Thr) c.26296T>A (p.Ser8766Thr) c.26284T>A (p.Ser8762Thr) c.26281T>A (p.Ser8761Thr) c.26242T>A (p.Ser8748Thr) c.26227T>A (p.Ser8743Thr) c.26212T>A (p.Ser8738Thr) c.26200T>A (p.Ser8734Thr) c.26197T>A (p.Ser8733Thr) c.26194T>A (p.Ser8732Thr) c.*17T>A (n.*17T>A) c.26350T>A (p.Ser8784Thr) c.26338T>A (p.Ser8780Thr) c.26188T>A (p.Ser8730Thr) c.24628T>A (p.Ser8210Thr) c.24121T>A (p.Ser8041Thr) c.19588T>A (p.Ser6530Thr) c.26326T>A (p.Ser8776Thr) c.26275T>A (p.Ser8759Thr) c.26239T>A (p.Ser8747Thr) c.26086T>A (p.Ser8696Thr) | |
6 | g.152122625C>A | CA4052607 | ESR1,SYNE1 | c.2739G>T (p.Arg913=) c.26205G>T (p.Arg8735=) c.26061G>T (p.Arg8687=) c.1548G>T c.1923G>T c.1790G>T c.2055G>T (n.2055G>T) c.24990G>T (p.Arg8330=) n.2953G>T c.4981G>T (n.4981G>T) n.9897G>T c.4084G>T (n.4084G>T) n.9789G>T c.851-2641C>A (n.851-2641C>A) n.2819G>T n.6842G>T n.2983G>T c.2670G>T (p.Arg890=) c.26352G>T (p.Arg8784=) c.26340G>T (p.Arg8780=) c.26331G>T (p.Arg8777=) c.26310G>T (p.Arg8770=) c.26301G>T (p.Arg8767=) c.26295G>T (p.Arg8765=) c.26283G>T (p.Arg8761=) c.26280G>T (p.Arg8760=) c.26241G>T (p.Arg8747=) c.26226G>T (p.Arg8742=) c.26211G>T (p.Arg8737=) c.26199G>T (p.Arg8733=) c.26196G>T (p.Arg8732=) c.26193G>T (p.Arg8731=) c.*16G>T (n.*16G>T) c.26349G>T (p.Arg8783=) c.26337G>T (p.Arg8779=) c.26187G>T (p.Arg8729=) c.24627G>T (p.Arg8209=) c.24120G>T (p.Arg8040=) c.19587G>T (p.Arg6529=) c.26325G>T (p.Arg8775=) c.26274G>T (p.Arg8758=) c.26238G>T (p.Arg8746=) c.26085G>T (p.Arg8695=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122625C= | CA1673189169 | ESR1,SYNE1 | c.2739G= (p.Arg913=) c.26205G= (p.Arg8735=) c.26061G= (p.Arg8687=) c.1548G= c.1923G= c.1790G= c.2055G= (n.2055G=) c.24990G= (p.Arg8330=) n.2953G= c.4981G= (n.4981G=) n.9897G= c.4084G= (n.4084G=) n.9789G= c.851-2641C= (n.851-2641C=) n.2819G= n.6842G= n.2983G= c.2670G= (p.Arg890=) c.26352G= (p.Arg8784=) c.26340G= (p.Arg8780=) c.26331G= (p.Arg8777=) c.26310G= (p.Arg8770=) c.26301G= (p.Arg8767=) c.26295G= (p.Arg8765=) c.26283G= (p.Arg8761=) c.26280G= (p.Arg8760=) c.26241G= (p.Arg8747=) c.26226G= (p.Arg8742=) c.26211G= (p.Arg8737=) c.26199G= (p.Arg8733=) c.26196G= (p.Arg8732=) c.26193G= (p.Arg8731=) c.*16G= (n.*16G=) c.26349G= (p.Arg8783=) c.26337G= (p.Arg8779=) c.26187G= (p.Arg8729=) c.24627G= (p.Arg8209=) c.24120G= (p.Arg8040=) c.19587G= (p.Arg6529=) c.26325G= (p.Arg8775=) c.26274G= (p.Arg8758=) c.26238G= (p.Arg8746=) c.26085G= (p.Arg8695=) | |
6 | g.152122625C>G | CA452969665 | ESR1,SYNE1 | c.2739G>C (p.Arg913=) c.26205G>C (p.Arg8735=) c.26061G>C (p.Arg8687=) c.1548G>C c.1923G>C c.1790G>C c.2055G>C (n.2055G>C) c.24990G>C (p.Arg8330=) n.2953G>C c.4981G>C (n.4981G>C) n.9897G>C c.4084G>C (n.4084G>C) n.9789G>C c.851-2641C>G (n.851-2641C>G) n.2819G>C n.6842G>C n.2983G>C c.2670G>C (p.Arg890=) c.26352G>C (p.Arg8784=) c.26340G>C (p.Arg8780=) c.26331G>C (p.Arg8777=) c.26310G>C (p.Arg8770=) c.26301G>C (p.Arg8767=) c.26295G>C (p.Arg8765=) c.26283G>C (p.Arg8761=) c.26280G>C (p.Arg8760=) c.26241G>C (p.Arg8747=) c.26226G>C (p.Arg8742=) c.26211G>C (p.Arg8737=) c.26199G>C (p.Arg8733=) c.26196G>C (p.Arg8732=) c.26193G>C (p.Arg8731=) c.*16G>C (n.*16G>C) c.26349G>C (p.Arg8783=) c.26337G>C (p.Arg8779=) c.26187G>C (p.Arg8729=) c.24627G>C (p.Arg8209=) c.24120G>C (p.Arg8040=) c.19587G>C (p.Arg6529=) c.26325G>C (p.Arg8775=) c.26274G>C (p.Arg8758=) c.26238G>C (p.Arg8746=) c.26085G>C (p.Arg8695=) | |
6 | g.152122625C>T | CA452969666 | ESR1,SYNE1 | c.2739G>A (p.Arg913=) c.26205G>A (p.Arg8735=) c.26061G>A (p.Arg8687=) c.1548G>A c.1923G>A c.1790G>A c.2055G>A (n.2055G>A) c.24990G>A (p.Arg8330=) n.2953G>A c.4981G>A (n.4981G>A) n.9897G>A c.4084G>A (n.4084G>A) n.9789G>A c.851-2641C>T (n.851-2641C>T) n.2819G>A n.6842G>A n.2983G>A c.2670G>A (p.Arg890=) c.26352G>A (p.Arg8784=) c.26340G>A (p.Arg8780=) c.26331G>A (p.Arg8777=) c.26310G>A (p.Arg8770=) c.26301G>A (p.Arg8767=) c.26295G>A (p.Arg8765=) c.26283G>A (p.Arg8761=) c.26280G>A (p.Arg8760=) c.26241G>A (p.Arg8747=) c.26226G>A (p.Arg8742=) c.26211G>A (p.Arg8737=) c.26199G>A (p.Arg8733=) c.26196G>A (p.Arg8732=) c.26193G>A (p.Arg8731=) c.*16G>A (n.*16G>A) c.26349G>A (p.Arg8783=) c.26337G>A (p.Arg8779=) c.26187G>A (p.Arg8729=) c.24627G>A (p.Arg8209=) c.24120G>A (p.Arg8040=) c.19587G>A (p.Arg6529=) c.26325G>A (p.Arg8775=) c.26274G>A (p.Arg8758=) c.26238G>A (p.Arg8746=) c.26085G>A (p.Arg8695=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122626C>A | CA4052608 | ESR1,SYNE1 | c.2738G>T (p.Arg913Leu) c.26204G>T (p.Arg8735Leu) c.26060G>T (p.Arg8687Leu) c.1547G>T c.1922G>T c.1789G>T c.2054G>T (n.2054G>T) c.24989G>T (p.Arg8330Leu) n.2952G>T c.4980G>T (n.4980G>T) n.9896G>T c.4083G>T (n.4083G>T) n.9788G>T c.851-2640C>A (n.851-2640C>A) n.2818G>T n.6841G>T n.2982G>T c.2669G>T (p.Arg890Leu) c.26351G>T (p.Arg8784Leu) c.26339G>T (p.Arg8780Leu) c.26330G>T (p.Arg8777Leu) c.26309G>T (p.Arg8770Leu) c.26300G>T (p.Arg8767Leu) c.26294G>T (p.Arg8765Leu) c.26282G>T (p.Arg8761Leu) c.26279G>T (p.Arg8760Leu) c.26240G>T (p.Arg8747Leu) c.26225G>T (p.Arg8742Leu) c.26210G>T (p.Arg8737Leu) c.26198G>T (p.Arg8733Leu) c.26195G>T (p.Arg8732Leu) c.26192G>T (p.Arg8731Leu) c.*15G>T (n.*15G>T) c.26348G>T (p.Arg8783Leu) c.26336G>T (p.Arg8779Leu) c.26186G>T (p.Arg8729Leu) c.24626G>T (p.Arg8209Leu) c.24119G>T (p.Arg8040Leu) c.19586G>T (p.Arg6529Leu) c.26324G>T (p.Arg8775Leu) c.26273G>T (p.Arg8758Leu) c.26237G>T (p.Arg8746Leu) c.26084G>T (p.Arg8695Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122626C= | CA1673189184 | ESR1,SYNE1 | c.2738G= (p.Arg913=) c.26204G= (p.Arg8735=) c.26060G= (p.Arg8687=) c.1547G= c.1922G= c.1789G= c.2054G= (n.2054G=) c.24989G= (p.Arg8330=) n.2952G= c.4980G= (n.4980G=) n.9896G= c.4083G= (n.4083G=) n.9788G= c.851-2640C= (n.851-2640C=) n.2818G= n.6841G= n.2982G= c.2669G= (p.Arg890=) c.26351G= (p.Arg8784=) c.26339G= (p.Arg8780=) c.26330G= (p.Arg8777=) c.26309G= (p.Arg8770=) c.26300G= (p.Arg8767=) c.26294G= (p.Arg8765=) c.26282G= (p.Arg8761=) c.26279G= (p.Arg8760=) c.26240G= (p.Arg8747=) c.26225G= (p.Arg8742=) c.26210G= (p.Arg8737=) c.26198G= (p.Arg8733=) c.26195G= (p.Arg8732=) c.26192G= (p.Arg8731=) c.*15G= (n.*15G=) c.26348G= (p.Arg8783=) c.26336G= (p.Arg8779=) c.26186G= (p.Arg8729=) c.24626G= (p.Arg8209=) c.24119G= (p.Arg8040=) c.19586G= (p.Arg6529=) c.26324G= (p.Arg8775=) c.26273G= (p.Arg8758=) c.26237G= (p.Arg8746=) c.26084G= (p.Arg8695=) | |
6 | g.152122626C>G | CA366089147 | ESR1,SYNE1 | c.2738G>C (p.Arg913Pro) c.26204G>C (p.Arg8735Pro) c.26060G>C (p.Arg8687Pro) c.1547G>C c.1922G>C c.1789G>C c.2054G>C (n.2054G>C) c.24989G>C (p.Arg8330Pro) n.2952G>C c.4980G>C (n.4980G>C) n.9896G>C c.4083G>C (n.4083G>C) n.9788G>C c.851-2640C>G (n.851-2640C>G) n.2818G>C n.6841G>C n.2982G>C c.2669G>C (p.Arg890Pro) c.26351G>C (p.Arg8784Pro) c.26339G>C (p.Arg8780Pro) c.26330G>C (p.Arg8777Pro) c.26309G>C (p.Arg8770Pro) c.26300G>C (p.Arg8767Pro) c.26294G>C (p.Arg8765Pro) c.26282G>C (p.Arg8761Pro) c.26279G>C (p.Arg8760Pro) c.26240G>C (p.Arg8747Pro) c.26225G>C (p.Arg8742Pro) c.26210G>C (p.Arg8737Pro) c.26198G>C (p.Arg8733Pro) c.26195G>C (p.Arg8732Pro) c.26192G>C (p.Arg8731Pro) c.*15G>C (n.*15G>C) c.26348G>C (p.Arg8783Pro) c.26336G>C (p.Arg8779Pro) c.26186G>C (p.Arg8729Pro) c.24626G>C (p.Arg8209Pro) c.24119G>C (p.Arg8040Pro) c.19586G>C (p.Arg6529Pro) c.26324G>C (p.Arg8775Pro) c.26273G>C (p.Arg8758Pro) c.26237G>C (p.Arg8746Pro) c.26084G>C (p.Arg8695Pro) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152122626C>T | CA155446 | ESR1,SYNE1 | c.2738G>A (p.Arg913Gln) c.26204G>A (p.Arg8735Gln) c.26060G>A (p.Arg8687Gln) c.1547G>A c.1922G>A c.1789G>A c.2054G>A (n.2054G>A) c.24989G>A (p.Arg8330Gln) n.2952G>A c.4980G>A (n.4980G>A) n.9896G>A c.4083G>A (n.4083G>A) n.9788G>A c.851-2640C>T (n.851-2640C>T) n.2818G>A n.6841G>A n.2982G>A c.2669G>A (p.Arg890Gln) c.26351G>A (p.Arg8784Gln) c.26339G>A (p.Arg8780Gln) c.26330G>A (p.Arg8777Gln) c.26309G>A (p.Arg8770Gln) c.26300G>A (p.Arg8767Gln) c.26294G>A (p.Arg8765Gln) c.26282G>A (p.Arg8761Gln) c.26279G>A (p.Arg8760Gln) c.26240G>A (p.Arg8747Gln) c.26225G>A (p.Arg8742Gln) c.26210G>A (p.Arg8737Gln) c.26198G>A (p.Arg8733Gln) c.26195G>A (p.Arg8732Gln) c.26192G>A (p.Arg8731Gln) c.*15G>A (n.*15G>A) c.26348G>A (p.Arg8783Gln) c.26336G>A (p.Arg8779Gln) c.26186G>A (p.Arg8729Gln) c.24626G>A (p.Arg8209Gln) c.24119G>A (p.Arg8040Gln) c.19586G>A (p.Arg6529Gln) c.26324G>A (p.Arg8775Gln) c.26273G>A (p.Arg8758Gln) c.26237G>A (p.Arg8746Gln) c.26084G>A (p.Arg8695Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122627G>A | CA4052609 | ESR1,SYNE1 | c.2737C>T (p.Arg913Trp) c.26203C>T (p.Arg8735Trp) c.26059C>T (p.Arg8687Trp) c.1546C>T c.1921C>T c.1788C>T c.2053C>T (n.2053C>T) c.24988C>T (p.Arg8330Trp) n.2951C>T c.4979C>T (n.4979C>T) n.9895C>T c.4082C>T (n.4082C>T) n.9787C>T c.851-2639G>A (n.851-2639G>A) n.2817C>T n.6840C>T n.2981C>T c.2668C>T (p.Arg890Trp) c.26350C>T (p.Arg8784Trp) c.26338C>T (p.Arg8780Trp) c.26329C>T (p.Arg8777Trp) c.26308C>T (p.Arg8770Trp) c.26299C>T (p.Arg8767Trp) c.26293C>T (p.Arg8765Trp) c.26281C>T (p.Arg8761Trp) c.26278C>T (p.Arg8760Trp) c.26239C>T (p.Arg8747Trp) c.26224C>T (p.Arg8742Trp) c.26209C>T (p.Arg8737Trp) c.26197C>T (p.Arg8733Trp) c.26194C>T (p.Arg8732Trp) c.26191C>T (p.Arg8731Trp) c.*14C>T (n.*14C>T) c.26347C>T (p.Arg8783Trp) c.26335C>T (p.Arg8779Trp) c.26185C>T (p.Arg8729Trp) c.24625C>T (p.Arg8209Trp) c.24118C>T (p.Arg8040Trp) c.19585C>T (p.Arg6529Trp) c.26323C>T (p.Arg8775Trp) c.26272C>T (p.Arg8758Trp) c.26236C>T (p.Arg8746Trp) c.26083C>T (p.Arg8695Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.152122627G>C | CA366089151 | ESR1,SYNE1 | c.2737C>G (p.Arg913Gly) c.26203C>G (p.Arg8735Gly) c.26059C>G (p.Arg8687Gly) c.1546C>G c.1921C>G c.1788C>G c.2053C>G (n.2053C>G) c.24988C>G (p.Arg8330Gly) n.2951C>G c.4979C>G (n.4979C>G) n.9895C>G c.4082C>G (n.4082C>G) n.9787C>G c.851-2639G>C (n.851-2639G>C) n.2817C>G n.6840C>G n.2981C>G c.2668C>G (p.Arg890Gly) c.26350C>G (p.Arg8784Gly) c.26338C>G (p.Arg8780Gly) c.26329C>G (p.Arg8777Gly) c.26308C>G (p.Arg8770Gly) c.26299C>G (p.Arg8767Gly) c.26293C>G (p.Arg8765Gly) c.26281C>G (p.Arg8761Gly) c.26278C>G (p.Arg8760Gly) c.26239C>G (p.Arg8747Gly) c.26224C>G (p.Arg8742Gly) c.26209C>G (p.Arg8737Gly) c.26197C>G (p.Arg8733Gly) c.26194C>G (p.Arg8732Gly) c.26191C>G (p.Arg8731Gly) c.*14C>G (n.*14C>G) c.26347C>G (p.Arg8783Gly) c.26335C>G (p.Arg8779Gly) c.26185C>G (p.Arg8729Gly) c.24625C>G (p.Arg8209Gly) c.24118C>G (p.Arg8040Gly) c.19585C>G (p.Arg6529Gly) c.26323C>G (p.Arg8775Gly) c.26272C>G (p.Arg8758Gly) c.26236C>G (p.Arg8746Gly) c.26083C>G (p.Arg8695Gly) | gnomAD v4 |
6 | g.152122627G= | CA1673189195 | ESR1,SYNE1 | c.2737C= (p.Arg913=) c.26203C= (p.Arg8735=) c.26059C= (p.Arg8687=) c.1546C= c.1921C= c.1788C= c.2053C= (n.2053C=) c.24988C= (p.Arg8330=) n.2951C= c.4979C= (n.4979C=) n.9895C= c.4082C= (n.4082C=) n.9787C= c.851-2639G= (n.851-2639G=) n.2817C= n.6840C= n.2981C= c.2668C= (p.Arg890=) c.26350C= (p.Arg8784=) c.26338C= (p.Arg8780=) c.26329C= (p.Arg8777=) c.26308C= (p.Arg8770=) c.26299C= (p.Arg8767=) c.26293C= (p.Arg8765=) c.26281C= (p.Arg8761=) c.26278C= (p.Arg8760=) c.26239C= (p.Arg8747=) c.26224C= (p.Arg8742=) c.26209C= (p.Arg8737=) c.26197C= (p.Arg8733=) c.26194C= (p.Arg8732=) c.26191C= (p.Arg8731=) c.*14C= (n.*14C=) c.26347C= (p.Arg8783=) c.26335C= (p.Arg8779=) c.26185C= (p.Arg8729=) c.24625C= (p.Arg8209=) c.24118C= (p.Arg8040=) c.19585C= (p.Arg6529=) c.26323C= (p.Arg8775=) c.26272C= (p.Arg8758=) c.26236C= (p.Arg8746=) c.26083C= (p.Arg8695=) | |
6 | g.152122627G>T | CA452969667 | ESR1,SYNE1 | c.2737C>A (p.Arg913=) c.26203C>A (p.Arg8735=) c.26059C>A (p.Arg8687=) c.1546C>A c.1921C>A c.1788C>A c.2053C>A (n.2053C>A) c.24988C>A (p.Arg8330=) n.2951C>A c.4979C>A (n.4979C>A) n.9895C>A c.4082C>A (n.4082C>A) n.9787C>A c.851-2639G>T (n.851-2639G>T) n.2817C>A n.6840C>A n.2981C>A c.2668C>A (p.Arg890=) c.26350C>A (p.Arg8784=) c.26338C>A (p.Arg8780=) c.26329C>A (p.Arg8777=) c.26308C>A (p.Arg8770=) c.26299C>A (p.Arg8767=) c.26293C>A (p.Arg8765=) c.26281C>A (p.Arg8761=) c.26278C>A (p.Arg8760=) c.26239C>A (p.Arg8747=) c.26224C>A (p.Arg8742=) c.26209C>A (p.Arg8737=) c.26197C>A (p.Arg8733=) c.26194C>A (p.Arg8732=) c.26191C>A (p.Arg8731=) c.*14C>A (n.*14C>A) c.26347C>A (p.Arg8783=) c.26335C>A (p.Arg8779=) c.26185C>A (p.Arg8729=) c.24625C>A (p.Arg8209=) c.24118C>A (p.Arg8040=) c.19585C>A (p.Arg6529=) c.26323C>A (p.Arg8775=) c.26272C>A (p.Arg8758=) c.26236C>A (p.Arg8746=) c.26083C>A (p.Arg8695=) | gnomAD v4 |
6 | g.152122628A>C | CA452969670 | ESR1,SYNE1 | c.2736T>G (p.Gly912=) c.26202T>G (p.Gly8734=) c.26058T>G (p.Gly8686=) c.1545T>G c.1920T>G c.1787T>G c.2052T>G (n.2052T>G) c.24987T>G (p.Gly8329=) n.2950T>G c.4978T>G (n.4978T>G) n.9894T>G c.4081T>G (n.4081T>G) n.9786T>G c.851-2638A>C (n.851-2638A>C) n.2816T>G n.6839T>G n.2980T>G c.2667T>G (p.Gly889=) c.26349T>G (p.Gly8783=) c.26337T>G (p.Gly8779=) c.26328T>G (p.Gly8776=) c.26307T>G (p.Gly8769=) c.26298T>G (p.Gly8766=) c.26292T>G (p.Gly8764=) c.26280T>G (p.Gly8760=) c.26277T>G (p.Gly8759=) c.26238T>G (p.Gly8746=) c.26223T>G (p.Gly8741=) c.26208T>G (p.Gly8736=) c.26196T>G (p.Gly8732=) c.26193T>G (p.Gly8731=) c.26190T>G (p.Gly8730=) c.*13T>G (n.*13T>G) c.26346T>G (p.Gly8782=) c.26334T>G (p.Gly8778=) c.26184T>G (p.Gly8728=) c.24624T>G (p.Gly8208=) c.24117T>G (p.Gly8039=) c.19584T>G (p.Gly6528=) c.26322T>G (p.Gly8774=) c.26271T>G (p.Gly8757=) c.26235T>G (p.Gly8745=) c.26082T>G (p.Gly8694=) | |
6 | g.152122628A>G | CA452969669 | ESR1,SYNE1 | c.2736T>C (p.Gly912=) c.26202T>C (p.Gly8734=) c.26058T>C (p.Gly8686=) c.1545T>C c.1920T>C c.1787T>C c.2052T>C (n.2052T>C) c.24987T>C (p.Gly8329=) n.2950T>C c.4978T>C (n.4978T>C) n.9894T>C c.4081T>C (n.4081T>C) n.9786T>C c.851-2638A>G (n.851-2638A>G) n.2816T>C n.6839T>C n.2980T>C c.2667T>C (p.Gly889=) c.26349T>C (p.Gly8783=) c.26337T>C (p.Gly8779=) c.26328T>C (p.Gly8776=) c.26307T>C (p.Gly8769=) c.26298T>C (p.Gly8766=) c.26292T>C (p.Gly8764=) c.26280T>C (p.Gly8760=) c.26277T>C (p.Gly8759=) c.26238T>C (p.Gly8746=) c.26223T>C (p.Gly8741=) c.26208T>C (p.Gly8736=) c.26196T>C (p.Gly8732=) c.26193T>C (p.Gly8731=) c.26190T>C (p.Gly8730=) c.*13T>C (n.*13T>C) c.26346T>C (p.Gly8782=) c.26334T>C (p.Gly8778=) c.26184T>C (p.Gly8728=) c.24624T>C (p.Gly8208=) c.24117T>C (p.Gly8039=) c.19584T>C (p.Gly6528=) c.26322T>C (p.Gly8774=) c.26271T>C (p.Gly8757=) c.26235T>C (p.Gly8745=) c.26082T>C (p.Gly8694=) | |
6 | g.152122628A>T | CA452969672 | ESR1,SYNE1 | c.2736T>A (p.Gly912=) c.26202T>A (p.Gly8734=) c.26058T>A (p.Gly8686=) c.1545T>A c.1920T>A c.1787T>A c.2052T>A (n.2052T>A) c.24987T>A (p.Gly8329=) n.2950T>A c.4978T>A (n.4978T>A) n.9894T>A c.4081T>A (n.4081T>A) n.9786T>A c.851-2638A>T (n.851-2638A>T) n.2816T>A n.6839T>A n.2980T>A c.2667T>A (p.Gly889=) c.26349T>A (p.Gly8783=) c.26337T>A (p.Gly8779=) c.26328T>A (p.Gly8776=) c.26307T>A (p.Gly8769=) c.26298T>A (p.Gly8766=) c.26292T>A (p.Gly8764=) c.26280T>A (p.Gly8760=) c.26277T>A (p.Gly8759=) c.26238T>A (p.Gly8746=) c.26223T>A (p.Gly8741=) c.26208T>A (p.Gly8736=) c.26196T>A (p.Gly8732=) c.26193T>A (p.Gly8731=) c.26190T>A (p.Gly8730=) c.*13T>A (n.*13T>A) c.26346T>A (p.Gly8782=) c.26334T>A (p.Gly8778=) c.26184T>A (p.Gly8728=) c.24624T>A (p.Gly8208=) c.24117T>A (p.Gly8039=) c.19584T>A (p.Gly6528=) c.26322T>A (p.Gly8774=) c.26271T>A (p.Gly8757=) c.26235T>A (p.Gly8745=) c.26082T>A (p.Gly8694=) | |
6 | g.152122629C>A | CA366089153 | ESR1,SYNE1 | c.2735G>T (p.Gly912Val) c.26201G>T (p.Gly8734Val) c.26057G>T (p.Gly8686Val) c.1544G>T c.1919G>T c.1786G>T c.2051G>T (n.2051G>T) c.24986G>T (p.Gly8329Val) n.2949G>T c.4977G>T (n.4977G>T) n.9893G>T c.4080G>T (n.4080G>T) n.9785G>T c.851-2637C>A (n.851-2637C>A) n.2815G>T n.6838G>T n.2979G>T c.2666G>T (p.Gly889Val) c.26348G>T (p.Gly8783Val) c.26336G>T (p.Gly8779Val) c.26327G>T (p.Gly8776Val) c.26306G>T (p.Gly8769Val) c.26297G>T (p.Gly8766Val) c.26291G>T (p.Gly8764Val) c.26279G>T (p.Gly8760Val) c.26276G>T (p.Gly8759Val) c.26237G>T (p.Gly8746Val) c.26222G>T (p.Gly8741Val) c.26207G>T (p.Gly8736Val) c.26195G>T (p.Gly8732Val) c.26192G>T (p.Gly8731Val) c.26189G>T (p.Gly8730Val) c.*12G>T (n.*12G>T) c.26345G>T (p.Gly8782Val) c.26333G>T (p.Gly8778Val) c.26183G>T (p.Gly8728Val) c.24623G>T (p.Gly8208Val) c.24116G>T (p.Gly8039Val) c.19583G>T (p.Gly6528Val) c.26321G>T (p.Gly8774Val) c.26270G>T (p.Gly8757Val) c.26234G>T (p.Gly8745Val) c.26081G>T (p.Gly8694Val) | |
6 | g.152122629C>G | CA366089155 | ESR1,SYNE1 | c.2735G>C (p.Gly912Ala) c.26201G>C (p.Gly8734Ala) c.26057G>C (p.Gly8686Ala) c.1544G>C c.1919G>C c.1786G>C c.2051G>C (n.2051G>C) c.24986G>C (p.Gly8329Ala) n.2949G>C c.4977G>C (n.4977G>C) n.9893G>C c.4080G>C (n.4080G>C) n.9785G>C c.851-2637C>G (n.851-2637C>G) n.2815G>C n.6838G>C n.2979G>C c.2666G>C (p.Gly889Ala) c.26348G>C (p.Gly8783Ala) c.26336G>C (p.Gly8779Ala) c.26327G>C (p.Gly8776Ala) c.26306G>C (p.Gly8769Ala) c.26297G>C (p.Gly8766Ala) c.26291G>C (p.Gly8764Ala) c.26279G>C (p.Gly8760Ala) c.26276G>C (p.Gly8759Ala) c.26237G>C (p.Gly8746Ala) c.26222G>C (p.Gly8741Ala) c.26207G>C (p.Gly8736Ala) c.26195G>C (p.Gly8732Ala) c.26192G>C (p.Gly8731Ala) c.26189G>C (p.Gly8730Ala) c.*12G>C (n.*12G>C) c.26345G>C (p.Gly8782Ala) c.26333G>C (p.Gly8778Ala) c.26183G>C (p.Gly8728Ala) c.24623G>C (p.Gly8208Ala) c.24116G>C (p.Gly8039Ala) c.19583G>C (p.Gly6528Ala) c.26321G>C (p.Gly8774Ala) c.26270G>C (p.Gly8757Ala) c.26234G>C (p.Gly8745Ala) c.26081G>C (p.Gly8694Ala) | |
6 | g.152122629C>T | CA366089157 | ESR1,SYNE1 | c.2735G>A (p.Gly912Asp) c.26201G>A (p.Gly8734Asp) c.26057G>A (p.Gly8686Asp) c.1544G>A c.1919G>A c.1786G>A c.2051G>A (n.2051G>A) c.24986G>A (p.Gly8329Asp) n.2949G>A c.4977G>A (n.4977G>A) n.9893G>A c.4080G>A (n.4080G>A) n.9785G>A c.851-2637C>T (n.851-2637C>T) n.2815G>A n.6838G>A n.2979G>A c.2666G>A (p.Gly889Asp) c.26348G>A (p.Gly8783Asp) c.26336G>A (p.Gly8779Asp) c.26327G>A (p.Gly8776Asp) c.26306G>A (p.Gly8769Asp) c.26297G>A (p.Gly8766Asp) c.26291G>A (p.Gly8764Asp) c.26279G>A (p.Gly8760Asp) c.26276G>A (p.Gly8759Asp) c.26237G>A (p.Gly8746Asp) c.26222G>A (p.Gly8741Asp) c.26207G>A (p.Gly8736Asp) c.26195G>A (p.Gly8732Asp) c.26192G>A (p.Gly8731Asp) c.26189G>A (p.Gly8730Asp) c.*12G>A (n.*12G>A) c.26345G>A (p.Gly8782Asp) c.26333G>A (p.Gly8778Asp) c.26183G>A (p.Gly8728Asp) c.24623G>A (p.Gly8208Asp) c.24116G>A (p.Gly8039Asp) c.19583G>A (p.Gly6528Asp) c.26321G>A (p.Gly8774Asp) c.26270G>A (p.Gly8757Asp) c.26234G>A (p.Gly8745Asp) c.26081G>A (p.Gly8694Asp) | |
6 | g.152122630C>A | CA366089163 | ESR1,SYNE1 | c.2734G>T (p.Gly912Cys) c.26200G>T (p.Gly8734Cys) c.26056G>T (p.Gly8686Cys) c.1543G>T c.1918G>T c.1785G>T c.2050G>T (n.2050G>T) c.24985G>T (p.Gly8329Cys) n.2948G>T c.4976G>T (n.4976G>T) n.9892G>T c.4079G>T (n.4079G>T) n.9784G>T c.851-2636C>A (n.851-2636C>A) n.2814G>T n.6837G>T n.2978G>T c.2665G>T (p.Gly889Cys) c.26347G>T (p.Gly8783Cys) c.26335G>T (p.Gly8779Cys) c.26326G>T (p.Gly8776Cys) c.26305G>T (p.Gly8769Cys) c.26296G>T (p.Gly8766Cys) c.26290G>T (p.Gly8764Cys) c.26278G>T (p.Gly8760Cys) c.26275G>T (p.Gly8759Cys) c.26236G>T (p.Gly8746Cys) c.26221G>T (p.Gly8741Cys) c.26206G>T (p.Gly8736Cys) c.26194G>T (p.Gly8732Cys) c.26191G>T (p.Gly8731Cys) c.26188G>T (p.Gly8730Cys) c.*11G>T (n.*11G>T) c.26344G>T (p.Gly8782Cys) c.26332G>T (p.Gly8778Cys) c.26182G>T (p.Gly8728Cys) c.24622G>T (p.Gly8208Cys) c.24115G>T (p.Gly8039Cys) c.19582G>T (p.Gly6528Cys) c.26320G>T (p.Gly8774Cys) c.26269G>T (p.Gly8757Cys) c.26233G>T (p.Gly8745Cys) c.26080G>T (p.Gly8694Cys) | |
6 | g.152122630C>G | CA366089162 | ESR1,SYNE1 | c.2734G>C (p.Gly912Arg) c.26200G>C (p.Gly8734Arg) c.26056G>C (p.Gly8686Arg) c.1543G>C c.1918G>C c.1785G>C c.2050G>C (n.2050G>C) c.24985G>C (p.Gly8329Arg) n.2948G>C c.4976G>C (n.4976G>C) n.9892G>C c.4079G>C (n.4079G>C) n.9784G>C c.851-2636C>G (n.851-2636C>G) n.2814G>C n.6837G>C n.2978G>C c.2665G>C (p.Gly889Arg) c.26347G>C (p.Gly8783Arg) c.26335G>C (p.Gly8779Arg) c.26326G>C (p.Gly8776Arg) c.26305G>C (p.Gly8769Arg) c.26296G>C (p.Gly8766Arg) c.26290G>C (p.Gly8764Arg) c.26278G>C (p.Gly8760Arg) c.26275G>C (p.Gly8759Arg) c.26236G>C (p.Gly8746Arg) c.26221G>C (p.Gly8741Arg) c.26206G>C (p.Gly8736Arg) c.26194G>C (p.Gly8732Arg) c.26191G>C (p.Gly8731Arg) c.26188G>C (p.Gly8730Arg) c.*11G>C (n.*11G>C) c.26344G>C (p.Gly8782Arg) c.26332G>C (p.Gly8778Arg) c.26182G>C (p.Gly8728Arg) c.24622G>C (p.Gly8208Arg) c.24115G>C (p.Gly8039Arg) c.19582G>C (p.Gly6528Arg) c.26320G>C (p.Gly8774Arg) c.26269G>C (p.Gly8757Arg) c.26233G>C (p.Gly8745Arg) c.26080G>C (p.Gly8694Arg) | |
6 | g.152122630C>T | CA366089160 | ESR1,SYNE1 | c.2734G>A (p.Gly912Ser) c.26200G>A (p.Gly8734Ser) c.26056G>A (p.Gly8686Ser) c.1543G>A c.1918G>A c.1785G>A c.2050G>A (n.2050G>A) c.24985G>A (p.Gly8329Ser) n.2948G>A c.4976G>A (n.4976G>A) n.9892G>A c.4079G>A (n.4079G>A) n.9784G>A c.851-2636C>T (n.851-2636C>T) n.2814G>A n.6837G>A n.2978G>A c.2665G>A (p.Gly889Ser) c.26347G>A (p.Gly8783Ser) c.26335G>A (p.Gly8779Ser) c.26326G>A (p.Gly8776Ser) c.26305G>A (p.Gly8769Ser) c.26296G>A (p.Gly8766Ser) c.26290G>A (p.Gly8764Ser) c.26278G>A (p.Gly8760Ser) c.26275G>A (p.Gly8759Ser) c.26236G>A (p.Gly8746Ser) c.26221G>A (p.Gly8741Ser) c.26206G>A (p.Gly8736Ser) c.26194G>A (p.Gly8732Ser) c.26191G>A (p.Gly8731Ser) c.26188G>A (p.Gly8730Ser) c.*11G>A (n.*11G>A) c.26344G>A (p.Gly8782Ser) c.26332G>A (p.Gly8778Ser) c.26182G>A (p.Gly8728Ser) c.24622G>A (p.Gly8208Ser) c.24115G>A (p.Gly8039Ser) c.19582G>A (p.Gly6528Ser) c.26320G>A (p.Gly8774Ser) c.26269G>A (p.Gly8757Ser) c.26233G>A (p.Gly8745Ser) c.26080G>A (p.Gly8694Ser) | |
6 | g.152122631T>A | CA452969675 | ESR1,SYNE1 | c.2733A>T (p.Pro911=) c.26199A>T (p.Pro8733=) c.26055A>T (p.Pro8685=) c.1542A>T c.1917A>T c.1784A>T c.2049A>T (n.2049A>T) c.24984A>T (p.Pro8328=) n.2947A>T c.4975A>T (n.4975A>T) n.9891A>T c.4078A>T (n.4078A>T) n.9783A>T c.851-2635T>A (n.851-2635T>A) n.2813A>T n.6836A>T n.2977A>T c.2664A>T (p.Pro888=) c.26346A>T (p.Pro8782=) c.26334A>T (p.Pro8778=) c.26325A>T (p.Pro8775=) c.26304A>T (p.Pro8768=) c.26295A>T (p.Pro8765=) c.26289A>T (p.Pro8763=) c.26277A>T (p.Pro8759=) c.26274A>T (p.Pro8758=) c.26235A>T (p.Pro8745=) c.26220A>T (p.Pro8740=) c.26205A>T (p.Pro8735=) c.26193A>T (p.Pro8731=) c.26190A>T (p.Pro8730=) c.26187A>T (p.Pro8729=) c.*10A>T (n.*10A>T) c.26343A>T (p.Pro8781=) c.26331A>T (p.Pro8777=) c.26181A>T (p.Pro8727=) c.24621A>T (p.Pro8207=) c.24114A>T (p.Pro8038=) c.19581A>T (p.Pro6527=) c.26319A>T (p.Pro8773=) c.26268A>T (p.Pro8756=) c.26232A>T (p.Pro8744=) c.26079A>T (p.Pro8693=) | |
6 | g.152122631T>C | CA452969676 | ESR1,SYNE1 | c.2733A>G (p.Pro911=) c.26199A>G (p.Pro8733=) c.26055A>G (p.Pro8685=) c.1542A>G c.1917A>G c.1784A>G c.2049A>G (n.2049A>G) c.24984A>G (p.Pro8328=) n.2947A>G c.4975A>G (n.4975A>G) n.9891A>G c.4078A>G (n.4078A>G) n.9783A>G c.851-2635T>C (n.851-2635T>C) n.2813A>G n.6836A>G n.2977A>G c.2664A>G (p.Pro888=) c.26346A>G (p.Pro8782=) c.26334A>G (p.Pro8778=) c.26325A>G (p.Pro8775=) c.26304A>G (p.Pro8768=) c.26295A>G (p.Pro8765=) c.26289A>G (p.Pro8763=) c.26277A>G (p.Pro8759=) c.26274A>G (p.Pro8758=) c.26235A>G (p.Pro8745=) c.26220A>G (p.Pro8740=) c.26205A>G (p.Pro8735=) c.26193A>G (p.Pro8731=) c.26190A>G (p.Pro8730=) c.26187A>G (p.Pro8729=) c.*10A>G (n.*10A>G) c.26343A>G (p.Pro8781=) c.26331A>G (p.Pro8777=) c.26181A>G (p.Pro8727=) c.24621A>G (p.Pro8207=) c.24114A>G (p.Pro8038=) c.19581A>G (p.Pro6527=) c.26319A>G (p.Pro8773=) c.26268A>G (p.Pro8756=) c.26232A>G (p.Pro8744=) c.26079A>G (p.Pro8693=) | |
6 | g.152122631T>G | CA452969677 | ESR1,SYNE1 | c.2733A>C (p.Pro911=) c.26199A>C (p.Pro8733=) c.26055A>C (p.Pro8685=) c.1542A>C c.1917A>C c.1784A>C c.2049A>C (n.2049A>C) c.24984A>C (p.Pro8328=) n.2947A>C c.4975A>C (n.4975A>C) n.9891A>C c.4078A>C (n.4078A>C) n.9783A>C c.851-2635T>G (n.851-2635T>G) n.2813A>C n.6836A>C n.2977A>C c.2664A>C (p.Pro888=) c.26346A>C (p.Pro8782=) c.26334A>C (p.Pro8778=) c.26325A>C (p.Pro8775=) c.26304A>C (p.Pro8768=) c.26295A>C (p.Pro8765=) c.26289A>C (p.Pro8763=) c.26277A>C (p.Pro8759=) c.26274A>C (p.Pro8758=) c.26235A>C (p.Pro8745=) c.26220A>C (p.Pro8740=) c.26205A>C (p.Pro8735=) c.26193A>C (p.Pro8731=) c.26190A>C (p.Pro8730=) c.26187A>C (p.Pro8729=) c.*10A>C (n.*10A>C) c.26343A>C (p.Pro8781=) c.26331A>C (p.Pro8777=) c.26181A>C (p.Pro8727=) c.24621A>C (p.Pro8207=) c.24114A>C (p.Pro8038=) c.19581A>C (p.Pro6527=) c.26319A>C (p.Pro8773=) c.26268A>C (p.Pro8756=) c.26232A>C (p.Pro8744=) c.26079A>C (p.Pro8693=) | |
6 | g.152122632G>A | CA366089165 | ESR1,SYNE1 | c.2732C>T (p.Pro911Leu) c.26198C>T (p.Pro8733Leu) c.26054C>T (p.Pro8685Leu) c.1541C>T c.1916C>T c.1783C>T c.2048C>T (n.2048C>T) c.24983C>T (p.Pro8328Leu) n.2946C>T c.4974C>T (n.4974C>T) n.9890C>T c.4077C>T (n.4077C>T) n.9782C>T c.851-2634G>A (n.851-2634G>A) n.2812C>T n.6835C>T n.2976C>T c.2663C>T (p.Pro888Leu) c.26345C>T (p.Pro8782Leu) c.26333C>T (p.Pro8778Leu) c.26324C>T (p.Pro8775Leu) c.26303C>T (p.Pro8768Leu) c.26294C>T (p.Pro8765Leu) c.26288C>T (p.Pro8763Leu) c.26276C>T (p.Pro8759Leu) c.26273C>T (p.Pro8758Leu) c.26234C>T (p.Pro8745Leu) c.26219C>T (p.Pro8740Leu) c.26204C>T (p.Pro8735Leu) c.26192C>T (p.Pro8731Leu) c.26189C>T (p.Pro8730Leu) c.26186C>T (p.Pro8729Leu) c.*9C>T (n.*9C>T) c.26342C>T (p.Pro8781Leu) c.26330C>T (p.Pro8777Leu) c.26180C>T (p.Pro8727Leu) c.24620C>T (p.Pro8207Leu) c.24113C>T (p.Pro8038Leu) c.19580C>T (p.Pro6527Leu) c.26318C>T (p.Pro8773Leu) c.26267C>T (p.Pro8756Leu) c.26231C>T (p.Pro8744Leu) c.26078C>T (p.Pro8693Leu) | |
6 | g.152122632G>C | CA366089167 | ESR1,SYNE1 | c.2732C>G (p.Pro911Arg) c.26198C>G (p.Pro8733Arg) c.26054C>G (p.Pro8685Arg) c.1541C>G c.1916C>G c.1783C>G c.2048C>G (n.2048C>G) c.24983C>G (p.Pro8328Arg) n.2946C>G c.4974C>G (n.4974C>G) n.9890C>G c.4077C>G (n.4077C>G) n.9782C>G c.851-2634G>C (n.851-2634G>C) n.2812C>G n.6835C>G n.2976C>G c.2663C>G (p.Pro888Arg) c.26345C>G (p.Pro8782Arg) c.26333C>G (p.Pro8778Arg) c.26324C>G (p.Pro8775Arg) c.26303C>G (p.Pro8768Arg) c.26294C>G (p.Pro8765Arg) c.26288C>G (p.Pro8763Arg) c.26276C>G (p.Pro8759Arg) c.26273C>G (p.Pro8758Arg) c.26234C>G (p.Pro8745Arg) c.26219C>G (p.Pro8740Arg) c.26204C>G (p.Pro8735Arg) c.26192C>G (p.Pro8731Arg) c.26189C>G (p.Pro8730Arg) c.26186C>G (p.Pro8729Arg) c.*9C>G (n.*9C>G) c.26342C>G (p.Pro8781Arg) c.26330C>G (p.Pro8777Arg) c.26180C>G (p.Pro8727Arg) c.24620C>G (p.Pro8207Arg) c.24113C>G (p.Pro8038Arg) c.19580C>G (p.Pro6527Arg) c.26318C>G (p.Pro8773Arg) c.26267C>G (p.Pro8756Arg) c.26231C>G (p.Pro8744Arg) c.26078C>G (p.Pro8693Arg) | gnomAD v4 |
6 | g.152122632G>T | CA366089169 | ESR1,SYNE1 | c.2732C>A (p.Pro911Gln) c.26198C>A (p.Pro8733Gln) c.26054C>A (p.Pro8685Gln) c.1541C>A c.1916C>A c.1783C>A c.2048C>A (n.2048C>A) c.24983C>A (p.Pro8328Gln) n.2946C>A c.4974C>A (n.4974C>A) n.9890C>A c.4077C>A (n.4077C>A) n.9782C>A c.851-2634G>T (n.851-2634G>T) n.2812C>A n.6835C>A n.2976C>A c.2663C>A (p.Pro888Gln) c.26345C>A (p.Pro8782Gln) c.26333C>A (p.Pro8778Gln) c.26324C>A (p.Pro8775Gln) c.26303C>A (p.Pro8768Gln) c.26294C>A (p.Pro8765Gln) c.26288C>A (p.Pro8763Gln) c.26276C>A (p.Pro8759Gln) c.26273C>A (p.Pro8758Gln) c.26234C>A (p.Pro8745Gln) c.26219C>A (p.Pro8740Gln) c.26204C>A (p.Pro8735Gln) c.26192C>A (p.Pro8731Gln) c.26189C>A (p.Pro8730Gln) c.26186C>A (p.Pro8729Gln) c.*9C>A (n.*9C>A) c.26342C>A (p.Pro8781Gln) c.26330C>A (p.Pro8777Gln) c.26180C>A (p.Pro8727Gln) c.24620C>A (p.Pro8207Gln) c.24113C>A (p.Pro8038Gln) c.19580C>A (p.Pro6527Gln) c.26318C>A (p.Pro8773Gln) c.26267C>A (p.Pro8756Gln) c.26231C>A (p.Pro8744Gln) c.26078C>A (p.Pro8693Gln) | |
6 | g.152122633G>A | CA366089171 | ESR1,SYNE1 | c.2731C>T (p.Pro911Ser) c.26197C>T (p.Pro8733Ser) c.26053C>T (p.Pro8685Ser) c.1540C>T c.1915C>T c.1782C>T c.2047C>T (n.2047C>T) c.24982C>T (p.Pro8328Ser) n.2945C>T c.4973C>T (n.4973C>T) n.9889C>T c.4076C>T (n.4076C>T) n.9781C>T c.851-2633G>A (n.851-2633G>A) n.2811C>T n.6834C>T n.2975C>T c.2662C>T (p.Pro888Ser) c.26344C>T (p.Pro8782Ser) c.26332C>T (p.Pro8778Ser) c.26323C>T (p.Pro8775Ser) c.26302C>T (p.Pro8768Ser) c.26293C>T (p.Pro8765Ser) c.26287C>T (p.Pro8763Ser) c.26275C>T (p.Pro8759Ser) c.26272C>T (p.Pro8758Ser) c.26233C>T (p.Pro8745Ser) c.26218C>T (p.Pro8740Ser) c.26203C>T (p.Pro8735Ser) c.26191C>T (p.Pro8731Ser) c.26188C>T (p.Pro8730Ser) c.26185C>T (p.Pro8729Ser) c.*8C>T (n.*8C>T) c.26341C>T (p.Pro8781Ser) c.26329C>T (p.Pro8777Ser) c.26179C>T (p.Pro8727Ser) c.24619C>T (p.Pro8207Ser) c.24112C>T (p.Pro8038Ser) c.19579C>T (p.Pro6527Ser) c.26317C>T (p.Pro8773Ser) c.26266C>T (p.Pro8756Ser) c.26230C>T (p.Pro8744Ser) c.26077C>T (p.Pro8693Ser) | dbSNP gnomAD v4 |
6 | g.152122633G>C | CA366089172 | ESR1,SYNE1 | c.2731C>G (p.Pro911Ala) c.26197C>G (p.Pro8733Ala) c.26053C>G (p.Pro8685Ala) c.1540C>G c.1915C>G c.1782C>G c.2047C>G (n.2047C>G) c.24982C>G (p.Pro8328Ala) n.2945C>G c.4973C>G (n.4973C>G) n.9889C>G c.4076C>G (n.4076C>G) n.9781C>G c.851-2633G>C (n.851-2633G>C) n.2811C>G n.6834C>G n.2975C>G c.2662C>G (p.Pro888Ala) c.26344C>G (p.Pro8782Ala) c.26332C>G (p.Pro8778Ala) c.26323C>G (p.Pro8775Ala) c.26302C>G (p.Pro8768Ala) c.26293C>G (p.Pro8765Ala) c.26287C>G (p.Pro8763Ala) c.26275C>G (p.Pro8759Ala) c.26272C>G (p.Pro8758Ala) c.26233C>G (p.Pro8745Ala) c.26218C>G (p.Pro8740Ala) c.26203C>G (p.Pro8735Ala) c.26191C>G (p.Pro8731Ala) c.26188C>G (p.Pro8730Ala) c.26185C>G (p.Pro8729Ala) c.*8C>G (n.*8C>G) c.26341C>G (p.Pro8781Ala) c.26329C>G (p.Pro8777Ala) c.26179C>G (p.Pro8727Ala) c.24619C>G (p.Pro8207Ala) c.24112C>G (p.Pro8038Ala) c.19579C>G (p.Pro6527Ala) c.26317C>G (p.Pro8773Ala) c.26266C>G (p.Pro8756Ala) c.26230C>G (p.Pro8744Ala) c.26077C>G (p.Pro8693Ala) | |
6 | g.152122633G= | CA1673189203 | ESR1,SYNE1 | c.2731C= (p.Pro911=) c.26197C= (p.Pro8733=) c.26053C= (p.Pro8685=) c.1540C= c.1915C= c.1782C= c.2047C= (n.2047C=) c.24982C= (p.Pro8328=) n.2945C= c.4973C= (n.4973C=) n.9889C= c.4076C= (n.4076C=) n.9781C= c.851-2633G= (n.851-2633G=) n.2811C= n.6834C= n.2975C= c.2662C= (p.Pro888=) c.26344C= (p.Pro8782=) c.26332C= (p.Pro8778=) c.26323C= (p.Pro8775=) c.26302C= (p.Pro8768=) c.26293C= (p.Pro8765=) c.26287C= (p.Pro8763=) c.26275C= (p.Pro8759=) c.26272C= (p.Pro8758=) c.26233C= (p.Pro8745=) c.26218C= (p.Pro8740=) c.26203C= (p.Pro8735=) c.26191C= (p.Pro8731=) c.26188C= (p.Pro8730=) c.26185C= (p.Pro8729=) c.*8C= (n.*8C=) c.26341C= (p.Pro8781=) c.26329C= (p.Pro8777=) c.26179C= (p.Pro8727=) c.24619C= (p.Pro8207=) c.24112C= (p.Pro8038=) c.19579C= (p.Pro6527=) c.26317C= (p.Pro8773=) c.26266C= (p.Pro8756=) c.26230C= (p.Pro8744=) c.26077C= (p.Pro8693=) | |
6 | g.152122633G>T | CA366089174 | ESR1,SYNE1 | c.2731C>A (p.Pro911Thr) c.26197C>A (p.Pro8733Thr) c.26053C>A (p.Pro8685Thr) c.1540C>A c.1915C>A c.1782C>A c.2047C>A (n.2047C>A) c.24982C>A (p.Pro8328Thr) n.2945C>A c.4973C>A (n.4973C>A) n.9889C>A c.4076C>A (n.4076C>A) n.9781C>A c.851-2633G>T (n.851-2633G>T) n.2811C>A n.6834C>A n.2975C>A c.2662C>A (p.Pro888Thr) c.26344C>A (p.Pro8782Thr) c.26332C>A (p.Pro8778Thr) c.26323C>A (p.Pro8775Thr) c.26302C>A (p.Pro8768Thr) c.26293C>A (p.Pro8765Thr) c.26287C>A (p.Pro8763Thr) c.26275C>A (p.Pro8759Thr) c.26272C>A (p.Pro8758Thr) c.26233C>A (p.Pro8745Thr) c.26218C>A (p.Pro8740Thr) c.26203C>A (p.Pro8735Thr) c.26191C>A (p.Pro8731Thr) c.26188C>A (p.Pro8730Thr) c.26185C>A (p.Pro8729Thr) c.*8C>A (n.*8C>A) c.26341C>A (p.Pro8781Thr) c.26329C>A (p.Pro8777Thr) c.26179C>A (p.Pro8727Thr) c.24619C>A (p.Pro8207Thr) c.24112C>A (p.Pro8038Thr) c.19579C>A (p.Pro6527Thr) c.26317C>A (p.Pro8773Thr) c.26266C>A (p.Pro8756Thr) c.26230C>A (p.Pro8744Thr) c.26077C>A (p.Pro8693Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122634C>A | CA452969686 | ESR1,SYNE1 | c.2730G>T (p.Gly910=) c.26196G>T (p.Gly8732=) c.26052G>T (p.Gly8684=) c.1539G>T c.1914G>T c.1781G>T c.2046G>T (n.2046G>T) c.24981G>T (p.Gly8327=) n.2944G>T c.4972G>T (n.4972G>T) n.9888G>T c.4075G>T (n.4075G>T) n.9780G>T c.851-2632C>A (n.851-2632C>A) n.2810G>T n.6833G>T n.2974G>T c.2661G>T (p.Gly887=) c.26343G>T (p.Gly8781=) c.26331G>T (p.Gly8777=) c.26322G>T (p.Gly8774=) c.26301G>T (p.Gly8767=) c.26292G>T (p.Gly8764=) c.26286G>T (p.Gly8762=) c.26274G>T (p.Gly8758=) c.26271G>T (p.Gly8757=) c.26232G>T (p.Gly8744=) c.26217G>T (p.Gly8739=) c.26202G>T (p.Gly8734=) c.26190G>T (p.Gly8730=) c.26187G>T (p.Gly8729=) c.26184G>T (p.Gly8728=) c.*7G>T (n.*7G>T) c.26340G>T (p.Gly8780=) c.26328G>T (p.Gly8776=) c.26178G>T (p.Gly8726=) c.24618G>T (p.Gly8206=) c.24111G>T (p.Gly8037=) c.19578G>T (p.Gly6526=) c.26316G>T (p.Gly8772=) c.26265G>T (p.Gly8755=) c.26229G>T (p.Gly8743=) c.26076G>T (p.Gly8692=) | ClinVar dbSNP |
6 | g.152122634C= | CA1673189208 | ESR1,SYNE1 | c.2730G= (p.Gly910=) c.26196G= (p.Gly8732=) c.26052G= (p.Gly8684=) c.1539G= c.1914G= c.1781G= c.2046G= (n.2046G=) c.24981G= (p.Gly8327=) n.2944G= c.4972G= (n.4972G=) n.9888G= c.4075G= (n.4075G=) n.9780G= c.851-2632C= (n.851-2632C=) n.2810G= n.6833G= n.2974G= c.2661G= (p.Gly887=) c.26343G= (p.Gly8781=) c.26331G= (p.Gly8777=) c.26322G= (p.Gly8774=) c.26301G= (p.Gly8767=) c.26292G= (p.Gly8764=) c.26286G= (p.Gly8762=) c.26274G= (p.Gly8758=) c.26271G= (p.Gly8757=) c.26232G= (p.Gly8744=) c.26217G= (p.Gly8739=) c.26202G= (p.Gly8734=) c.26190G= (p.Gly8730=) c.26187G= (p.Gly8729=) c.26184G= (p.Gly8728=) c.*7G= (n.*7G=) c.26340G= (p.Gly8780=) c.26328G= (p.Gly8776=) c.26178G= (p.Gly8726=) c.24618G= (p.Gly8206=) c.24111G= (p.Gly8037=) c.19578G= (p.Gly6526=) c.26316G= (p.Gly8772=) c.26265G= (p.Gly8755=) c.26229G= (p.Gly8743=) c.26076G= (p.Gly8692=) | |
6 | g.152122634C>G | CA452969684 | ESR1,SYNE1 | c.2730G>C (p.Gly910=) c.26196G>C (p.Gly8732=) c.26052G>C (p.Gly8684=) c.1539G>C c.1914G>C c.1781G>C c.2046G>C (n.2046G>C) c.24981G>C (p.Gly8327=) n.2944G>C c.4972G>C (n.4972G>C) n.9888G>C c.4075G>C (n.4075G>C) n.9780G>C c.851-2632C>G (n.851-2632C>G) n.2810G>C n.6833G>C n.2974G>C c.2661G>C (p.Gly887=) c.26343G>C (p.Gly8781=) c.26331G>C (p.Gly8777=) c.26322G>C (p.Gly8774=) c.26301G>C (p.Gly8767=) c.26292G>C (p.Gly8764=) c.26286G>C (p.Gly8762=) c.26274G>C (p.Gly8758=) c.26271G>C (p.Gly8757=) c.26232G>C (p.Gly8744=) c.26217G>C (p.Gly8739=) c.26202G>C (p.Gly8734=) c.26190G>C (p.Gly8730=) c.26187G>C (p.Gly8729=) c.26184G>C (p.Gly8728=) c.*7G>C (n.*7G>C) c.26340G>C (p.Gly8780=) c.26328G>C (p.Gly8776=) c.26178G>C (p.Gly8726=) c.24618G>C (p.Gly8206=) c.24111G>C (p.Gly8037=) c.19578G>C (p.Gly6526=) c.26316G>C (p.Gly8772=) c.26265G>C (p.Gly8755=) c.26229G>C (p.Gly8743=) c.26076G>C (p.Gly8692=) | gnomAD v4 |
6 | g.152122634C>T | CA452969685 | ESR1,SYNE1 | c.2730G>A (p.Gly910=) c.26196G>A (p.Gly8732=) c.26052G>A (p.Gly8684=) c.1539G>A c.1914G>A c.1781G>A c.2046G>A (n.2046G>A) c.24981G>A (p.Gly8327=) n.2944G>A c.4972G>A (n.4972G>A) n.9888G>A c.4075G>A (n.4075G>A) n.9780G>A c.851-2632C>T (n.851-2632C>T) n.2810G>A n.6833G>A n.2974G>A c.2661G>A (p.Gly887=) c.26343G>A (p.Gly8781=) c.26331G>A (p.Gly8777=) c.26322G>A (p.Gly8774=) c.26301G>A (p.Gly8767=) c.26292G>A (p.Gly8764=) c.26286G>A (p.Gly8762=) c.26274G>A (p.Gly8758=) c.26271G>A (p.Gly8757=) c.26232G>A (p.Gly8744=) c.26217G>A (p.Gly8739=) c.26202G>A (p.Gly8734=) c.26190G>A (p.Gly8730=) c.26187G>A (p.Gly8729=) c.26184G>A (p.Gly8728=) c.*7G>A (n.*7G>A) c.26340G>A (p.Gly8780=) c.26328G>A (p.Gly8776=) c.26178G>A (p.Gly8726=) c.24618G>A (p.Gly8206=) c.24111G>A (p.Gly8037=) c.19578G>A (p.Gly6526=) c.26316G>A (p.Gly8772=) c.26265G>A (p.Gly8755=) c.26229G>A (p.Gly8743=) c.26076G>A (p.Gly8692=) | |
6 | g.152122635C>A | CA366089177 | ESR1,SYNE1 | c.2729G>T (p.Gly910Val) c.26195G>T (p.Gly8732Val) c.26051G>T (p.Gly8684Val) c.1538G>T c.1913G>T c.1780G>T c.2045G>T (n.2045G>T) c.24980G>T (p.Gly8327Val) n.2943G>T c.4971G>T (n.4971G>T) n.9887G>T c.4074G>T (n.4074G>T) n.9779G>T c.851-2631C>A (n.851-2631C>A) n.2809G>T n.6832G>T n.2973G>T c.2660G>T (p.Gly887Val) c.26342G>T (p.Gly8781Val) c.26330G>T (p.Gly8777Val) c.26321G>T (p.Gly8774Val) c.26300G>T (p.Gly8767Val) c.26291G>T (p.Gly8764Val) c.26285G>T (p.Gly8762Val) c.26273G>T (p.Gly8758Val) c.26270G>T (p.Gly8757Val) c.26231G>T (p.Gly8744Val) c.26216G>T (p.Gly8739Val) c.26201G>T (p.Gly8734Val) c.26189G>T (p.Gly8730Val) c.26186G>T (p.Gly8729Val) c.26183G>T (p.Gly8728Val) c.*6G>T (n.*6G>T) c.26339G>T (p.Gly8780Val) c.26327G>T (p.Gly8776Val) c.26177G>T (p.Gly8726Val) c.24617G>T (p.Gly8206Val) c.24110G>T (p.Gly8037Val) c.19577G>T (p.Gly6526Val) c.26315G>T (p.Gly8772Val) c.26264G>T (p.Gly8755Val) c.26228G>T (p.Gly8743Val) c.26075G>T (p.Gly8692Val) | |
6 | g.152122635C= | CA1673189215 | ESR1,SYNE1 | c.2729G= (p.Gly910=) c.26195G= (p.Gly8732=) c.26051G= (p.Gly8684=) c.1538G= c.1913G= c.1780G= c.2045G= (n.2045G=) c.24980G= (p.Gly8327=) n.2943G= c.4971G= (n.4971G=) n.9887G= c.4074G= (n.4074G=) n.9779G= c.851-2631C= (n.851-2631C=) n.2809G= n.6832G= n.2973G= c.2660G= (p.Gly887=) c.26342G= (p.Gly8781=) c.26330G= (p.Gly8777=) c.26321G= (p.Gly8774=) c.26300G= (p.Gly8767=) c.26291G= (p.Gly8764=) c.26285G= (p.Gly8762=) c.26273G= (p.Gly8758=) c.26270G= (p.Gly8757=) c.26231G= (p.Gly8744=) c.26216G= (p.Gly8739=) c.26201G= (p.Gly8734=) c.26189G= (p.Gly8730=) c.26186G= (p.Gly8729=) c.26183G= (p.Gly8728=) c.*6G= (n.*6G=) c.26339G= (p.Gly8780=) c.26327G= (p.Gly8776=) c.26177G= (p.Gly8726=) c.24617G= (p.Gly8206=) c.24110G= (p.Gly8037=) c.19577G= (p.Gly6526=) c.26315G= (p.Gly8772=) c.26264G= (p.Gly8755=) c.26228G= (p.Gly8743=) c.26075G= (p.Gly8692=) | |
6 | g.152122635C>G | CA366089179 | ESR1,SYNE1 | c.2729G>C (p.Gly910Ala) c.26195G>C (p.Gly8732Ala) c.26051G>C (p.Gly8684Ala) c.1538G>C c.1913G>C c.1780G>C c.2045G>C (n.2045G>C) c.24980G>C (p.Gly8327Ala) n.2943G>C c.4971G>C (n.4971G>C) n.9887G>C c.4074G>C (n.4074G>C) n.9779G>C c.851-2631C>G (n.851-2631C>G) n.2809G>C n.6832G>C n.2973G>C c.2660G>C (p.Gly887Ala) c.26342G>C (p.Gly8781Ala) c.26330G>C (p.Gly8777Ala) c.26321G>C (p.Gly8774Ala) c.26300G>C (p.Gly8767Ala) c.26291G>C (p.Gly8764Ala) c.26285G>C (p.Gly8762Ala) c.26273G>C (p.Gly8758Ala) c.26270G>C (p.Gly8757Ala) c.26231G>C (p.Gly8744Ala) c.26216G>C (p.Gly8739Ala) c.26201G>C (p.Gly8734Ala) c.26189G>C (p.Gly8730Ala) c.26186G>C (p.Gly8729Ala) c.26183G>C (p.Gly8728Ala) c.*6G>C (n.*6G>C) c.26339G>C (p.Gly8780Ala) c.26327G>C (p.Gly8776Ala) c.26177G>C (p.Gly8726Ala) c.24617G>C (p.Gly8206Ala) c.24110G>C (p.Gly8037Ala) c.19577G>C (p.Gly6526Ala) c.26315G>C (p.Gly8772Ala) c.26264G>C (p.Gly8755Ala) c.26228G>C (p.Gly8743Ala) c.26075G>C (p.Gly8692Ala) | |
6 | g.152122635C>T | CA366089178 | ESR1,SYNE1 | c.2729G>A (p.Gly910Glu) c.26195G>A (p.Gly8732Glu) c.26051G>A (p.Gly8684Glu) c.1538G>A c.1913G>A c.1780G>A c.2045G>A (n.2045G>A) c.24980G>A (p.Gly8327Glu) n.2943G>A c.4971G>A (n.4971G>A) n.9887G>A c.4074G>A (n.4074G>A) n.9779G>A c.851-2631C>T (n.851-2631C>T) n.2809G>A n.6832G>A n.2973G>A c.2660G>A (p.Gly887Glu) c.26342G>A (p.Gly8781Glu) c.26330G>A (p.Gly8777Glu) c.26321G>A (p.Gly8774Glu) c.26300G>A (p.Gly8767Glu) c.26291G>A (p.Gly8764Glu) c.26285G>A (p.Gly8762Glu) c.26273G>A (p.Gly8758Glu) c.26270G>A (p.Gly8757Glu) c.26231G>A (p.Gly8744Glu) c.26216G>A (p.Gly8739Glu) c.26201G>A (p.Gly8734Glu) c.26189G>A (p.Gly8730Glu) c.26186G>A (p.Gly8729Glu) c.26183G>A (p.Gly8728Glu) c.*6G>A (n.*6G>A) c.26339G>A (p.Gly8780Glu) c.26327G>A (p.Gly8776Glu) c.26177G>A (p.Gly8726Glu) c.24617G>A (p.Gly8206Glu) c.24110G>A (p.Gly8037Glu) c.19577G>A (p.Gly6526Glu) c.26315G>A (p.Gly8772Glu) c.26264G>A (p.Gly8755Glu) c.26228G>A (p.Gly8743Glu) c.26075G>A (p.Gly8692Glu) | ClinVar dbSNP |
6 | g.152122636C>A | CA366089180 | ESR1,SYNE1 | c.2728G>T (p.Gly910Trp) c.26194G>T (p.Gly8732Trp) c.26050G>T (p.Gly8684Trp) c.1537G>T c.1912G>T c.1779G>T c.2044G>T (n.2044G>T) c.24979G>T (p.Gly8327Trp) n.2942G>T c.4970G>T (n.4970G>T) n.9886G>T c.4073G>T (n.4073G>T) n.9778G>T c.851-2630C>A (n.851-2630C>A) n.2808G>T n.6831G>T n.2972G>T c.2659G>T (p.Gly887Trp) c.26341G>T (p.Gly8781Trp) c.26329G>T (p.Gly8777Trp) c.26320G>T (p.Gly8774Trp) c.26299G>T (p.Gly8767Trp) c.26290G>T (p.Gly8764Trp) c.26284G>T (p.Gly8762Trp) c.26272G>T (p.Gly8758Trp) c.26269G>T (p.Gly8757Trp) c.26230G>T (p.Gly8744Trp) c.26215G>T (p.Gly8739Trp) c.26200G>T (p.Gly8734Trp) c.26188G>T (p.Gly8730Trp) c.26185G>T (p.Gly8729Trp) c.26182G>T (p.Gly8728Trp) c.*5G>T (n.*5G>T) c.26338G>T (p.Gly8780Trp) c.26326G>T (p.Gly8776Trp) c.26176G>T (p.Gly8726Trp) c.24616G>T (p.Gly8206Trp) c.24109G>T (p.Gly8037Trp) c.19576G>T (p.Gly6526Trp) c.26314G>T (p.Gly8772Trp) c.26263G>T (p.Gly8755Trp) c.26227G>T (p.Gly8743Trp) c.26074G>T (p.Gly8692Trp) | |
6 | g.152122636C>G | CA366089181 | ESR1,SYNE1 | c.2728G>C (p.Gly910Arg) c.26194G>C (p.Gly8732Arg) c.26050G>C (p.Gly8684Arg) c.1537G>C c.1912G>C c.1779G>C c.2044G>C (n.2044G>C) c.24979G>C (p.Gly8327Arg) n.2942G>C c.4970G>C (n.4970G>C) n.9886G>C c.4073G>C (n.4073G>C) n.9778G>C c.851-2630C>G (n.851-2630C>G) n.2808G>C n.6831G>C n.2972G>C c.2659G>C (p.Gly887Arg) c.26341G>C (p.Gly8781Arg) c.26329G>C (p.Gly8777Arg) c.26320G>C (p.Gly8774Arg) c.26299G>C (p.Gly8767Arg) c.26290G>C (p.Gly8764Arg) c.26284G>C (p.Gly8762Arg) c.26272G>C (p.Gly8758Arg) c.26269G>C (p.Gly8757Arg) c.26230G>C (p.Gly8744Arg) c.26215G>C (p.Gly8739Arg) c.26200G>C (p.Gly8734Arg) c.26188G>C (p.Gly8730Arg) c.26185G>C (p.Gly8729Arg) c.26182G>C (p.Gly8728Arg) c.*5G>C (n.*5G>C) c.26338G>C (p.Gly8780Arg) c.26326G>C (p.Gly8776Arg) c.26176G>C (p.Gly8726Arg) c.24616G>C (p.Gly8206Arg) c.24109G>C (p.Gly8037Arg) c.19576G>C (p.Gly6526Arg) c.26314G>C (p.Gly8772Arg) c.26263G>C (p.Gly8755Arg) c.26227G>C (p.Gly8743Arg) c.26074G>C (p.Gly8692Arg) | |
6 | g.152122636C>T | CA366089182 | ESR1,SYNE1 | c.2728G>A (p.Gly910Arg) c.26194G>A (p.Gly8732Arg) c.26050G>A (p.Gly8684Arg) c.1537G>A c.1912G>A c.1779G>A c.2044G>A (n.2044G>A) c.24979G>A (p.Gly8327Arg) n.2942G>A c.4970G>A (n.4970G>A) n.9886G>A c.4073G>A (n.4073G>A) n.9778G>A c.851-2630C>T (n.851-2630C>T) n.2808G>A n.6831G>A n.2972G>A c.2659G>A (p.Gly887Arg) c.26341G>A (p.Gly8781Arg) c.26329G>A (p.Gly8777Arg) c.26320G>A (p.Gly8774Arg) c.26299G>A (p.Gly8767Arg) c.26290G>A (p.Gly8764Arg) c.26284G>A (p.Gly8762Arg) c.26272G>A (p.Gly8758Arg) c.26269G>A (p.Gly8757Arg) c.26230G>A (p.Gly8744Arg) c.26215G>A (p.Gly8739Arg) c.26200G>A (p.Gly8734Arg) c.26188G>A (p.Gly8730Arg) c.26185G>A (p.Gly8729Arg) c.26182G>A (p.Gly8728Arg) c.*5G>A (n.*5G>A) c.26338G>A (p.Gly8780Arg) c.26326G>A (p.Gly8776Arg) c.26176G>A (p.Gly8726Arg) c.24616G>A (p.Gly8206Arg) c.24109G>A (p.Gly8037Arg) c.19576G>A (p.Gly6526Arg) c.26314G>A (p.Gly8772Arg) c.26263G>A (p.Gly8755Arg) c.26227G>A (p.Gly8743Arg) c.26074G>A (p.Gly8692Arg) | |
6 | g.152122637T>A | CA452969688 | ESR1,SYNE1 | c.2727A>T (p.Pro909=) c.26193A>T (p.Pro8731=) c.26049A>T (p.Pro8683=) c.1536A>T c.1911A>T c.1778A>T c.2043A>T (n.2043A>T) c.24978A>T (p.Pro8326=) n.2941A>T c.4969A>T (n.4969A>T) n.9885A>T c.4072A>T (n.4072A>T) n.9777A>T c.851-2629T>A (n.851-2629T>A) n.2807A>T n.6830A>T n.2971A>T c.2658A>T (p.Pro886=) c.26340A>T (p.Pro8780=) c.26328A>T (p.Pro8776=) c.26319A>T (p.Pro8773=) c.26298A>T (p.Pro8766=) c.26289A>T (p.Pro8763=) c.26283A>T (p.Pro8761=) c.26271A>T (p.Pro8757=) c.26268A>T (p.Pro8756=) c.26229A>T (p.Pro8743=) c.26214A>T (p.Pro8738=) c.26199A>T (p.Pro8733=) c.26187A>T (p.Pro8729=) c.26184A>T (p.Pro8728=) c.26181A>T (p.Pro8727=) c.*4A>T (n.*4A>T) c.26337A>T (p.Pro8779=) c.26325A>T (p.Pro8775=) c.26175A>T (p.Pro8725=) c.24615A>T (p.Pro8205=) c.24108A>T (p.Pro8036=) c.19575A>T (p.Pro6525=) c.26313A>T (p.Pro8771=) c.26262A>T (p.Pro8754=) c.26226A>T (p.Pro8742=) c.26073A>T (p.Pro8691=) | |
6 | g.152122637T>C | CA452969690 | ESR1,SYNE1 | c.2727A>G (p.Pro909=) c.26193A>G (p.Pro8731=) c.26049A>G (p.Pro8683=) c.1536A>G c.1911A>G c.1778A>G c.2043A>G (n.2043A>G) c.24978A>G (p.Pro8326=) n.2941A>G c.4969A>G (n.4969A>G) n.9885A>G c.4072A>G (n.4072A>G) n.9777A>G c.851-2629T>C (n.851-2629T>C) n.2807A>G n.6830A>G n.2971A>G c.2658A>G (p.Pro886=) c.26340A>G (p.Pro8780=) c.26328A>G (p.Pro8776=) c.26319A>G (p.Pro8773=) c.26298A>G (p.Pro8766=) c.26289A>G (p.Pro8763=) c.26283A>G (p.Pro8761=) c.26271A>G (p.Pro8757=) c.26268A>G (p.Pro8756=) c.26229A>G (p.Pro8743=) c.26214A>G (p.Pro8738=) c.26199A>G (p.Pro8733=) c.26187A>G (p.Pro8729=) c.26184A>G (p.Pro8728=) c.26181A>G (p.Pro8727=) c.*4A>G (n.*4A>G) c.26337A>G (p.Pro8779=) c.26325A>G (p.Pro8775=) c.26175A>G (p.Pro8725=) c.24615A>G (p.Pro8205=) c.24108A>G (p.Pro8036=) c.19575A>G (p.Pro6525=) c.26313A>G (p.Pro8771=) c.26262A>G (p.Pro8754=) c.26226A>G (p.Pro8742=) c.26073A>G (p.Pro8691=) | |
6 | g.152122637T>G | CA452969692 | ESR1,SYNE1 | c.2727A>C (p.Pro909=) c.26193A>C (p.Pro8731=) c.26049A>C (p.Pro8683=) c.1536A>C c.1911A>C c.1778A>C c.2043A>C (n.2043A>C) c.24978A>C (p.Pro8326=) n.2941A>C c.4969A>C (n.4969A>C) n.9885A>C c.4072A>C (n.4072A>C) n.9777A>C c.851-2629T>G (n.851-2629T>G) n.2807A>C n.6830A>C n.2971A>C c.2658A>C (p.Pro886=) c.26340A>C (p.Pro8780=) c.26328A>C (p.Pro8776=) c.26319A>C (p.Pro8773=) c.26298A>C (p.Pro8766=) c.26289A>C (p.Pro8763=) c.26283A>C (p.Pro8761=) c.26271A>C (p.Pro8757=) c.26268A>C (p.Pro8756=) c.26229A>C (p.Pro8743=) c.26214A>C (p.Pro8738=) c.26199A>C (p.Pro8733=) c.26187A>C (p.Pro8729=) c.26184A>C (p.Pro8728=) c.26181A>C (p.Pro8727=) c.*4A>C (n.*4A>C) c.26337A>C (p.Pro8779=) c.26325A>C (p.Pro8775=) c.26175A>C (p.Pro8725=) c.24615A>C (p.Pro8205=) c.24108A>C (p.Pro8036=) c.19575A>C (p.Pro6525=) c.26313A>C (p.Pro8771=) c.26262A>C (p.Pro8754=) c.26226A>C (p.Pro8742=) c.26073A>C (p.Pro8691=) | |
6 | g.152122638G>A | CA4052610 | ESR1,SYNE1 | c.2726C>T (p.Pro909Leu) c.26192C>T (p.Pro8731Leu) c.26048C>T (p.Pro8683Leu) c.1535C>T c.1910C>T c.1777C>T c.2042C>T (n.2042C>T) c.24977C>T (p.Pro8326Leu) n.2940C>T c.4968C>T (n.4968C>T) n.9884C>T c.4071C>T (n.4071C>T) n.9776C>T c.851-2628G>A (n.851-2628G>A) n.2806C>T n.6829C>T n.2970C>T c.2657C>T (p.Pro886Leu) c.26339C>T (p.Pro8780Leu) c.26327C>T (p.Pro8776Leu) c.26318C>T (p.Pro8773Leu) c.26297C>T (p.Pro8766Leu) c.26288C>T (p.Pro8763Leu) c.26282C>T (p.Pro8761Leu) c.26270C>T (p.Pro8757Leu) c.26267C>T (p.Pro8756Leu) c.26228C>T (p.Pro8743Leu) c.26213C>T (p.Pro8738Leu) c.26198C>T (p.Pro8733Leu) c.26186C>T (p.Pro8729Leu) c.26183C>T (p.Pro8728Leu) c.26180C>T (p.Pro8727Leu) c.*3C>T (n.*3C>T) c.26336C>T (p.Pro8779Leu) c.26324C>T (p.Pro8775Leu) c.26174C>T (p.Pro8725Leu) c.24614C>T (p.Pro8205Leu) c.24107C>T (p.Pro8036Leu) c.19574C>T (p.Pro6525Leu) c.26312C>T (p.Pro8771Leu) c.26261C>T (p.Pro8754Leu) c.26225C>T (p.Pro8742Leu) c.26072C>T (p.Pro8691Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122638G>C | CA366089183 | ESR1,SYNE1 | c.2726C>G (p.Pro909Arg) c.26192C>G (p.Pro8731Arg) c.26048C>G (p.Pro8683Arg) c.1535C>G c.1910C>G c.1777C>G c.2042C>G (n.2042C>G) c.24977C>G (p.Pro8326Arg) n.2940C>G c.4968C>G (n.4968C>G) n.9884C>G c.4071C>G (n.4071C>G) n.9776C>G c.851-2628G>C (n.851-2628G>C) n.2806C>G n.6829C>G n.2970C>G c.2657C>G (p.Pro886Arg) c.26339C>G (p.Pro8780Arg) c.26327C>G (p.Pro8776Arg) c.26318C>G (p.Pro8773Arg) c.26297C>G (p.Pro8766Arg) c.26288C>G (p.Pro8763Arg) c.26282C>G (p.Pro8761Arg) c.26270C>G (p.Pro8757Arg) c.26267C>G (p.Pro8756Arg) c.26228C>G (p.Pro8743Arg) c.26213C>G (p.Pro8738Arg) c.26198C>G (p.Pro8733Arg) c.26186C>G (p.Pro8729Arg) c.26183C>G (p.Pro8728Arg) c.26180C>G (p.Pro8727Arg) c.*3C>G (n.*3C>G) c.26336C>G (p.Pro8779Arg) c.26324C>G (p.Pro8775Arg) c.26174C>G (p.Pro8725Arg) c.24614C>G (p.Pro8205Arg) c.24107C>G (p.Pro8036Arg) c.19574C>G (p.Pro6525Arg) c.26312C>G (p.Pro8771Arg) c.26261C>G (p.Pro8754Arg) c.26225C>G (p.Pro8742Arg) c.26072C>G (p.Pro8691Arg) | |
6 | g.152122638G= | CA1673189225 | ESR1,SYNE1 | c.2726C= (p.Pro909=) c.26192C= (p.Pro8731=) c.26048C= (p.Pro8683=) c.1535C= c.1910C= c.1777C= c.2042C= (n.2042C=) c.24977C= (p.Pro8326=) n.2940C= c.4968C= (n.4968C=) n.9884C= c.4071C= (n.4071C=) n.9776C= c.851-2628G= (n.851-2628G=) n.2806C= n.6829C= n.2970C= c.2657C= (p.Pro886=) c.26339C= (p.Pro8780=) c.26327C= (p.Pro8776=) c.26318C= (p.Pro8773=) c.26297C= (p.Pro8766=) c.26288C= (p.Pro8763=) c.26282C= (p.Pro8761=) c.26270C= (p.Pro8757=) c.26267C= (p.Pro8756=) c.26228C= (p.Pro8743=) c.26213C= (p.Pro8738=) c.26198C= (p.Pro8733=) c.26186C= (p.Pro8729=) c.26183C= (p.Pro8728=) c.26180C= (p.Pro8727=) c.*3C= (n.*3C=) c.26336C= (p.Pro8779=) c.26324C= (p.Pro8775=) c.26174C= (p.Pro8725=) c.24614C= (p.Pro8205=) c.24107C= (p.Pro8036=) c.19574C= (p.Pro6525=) c.26312C= (p.Pro8771=) c.26261C= (p.Pro8754=) c.26225C= (p.Pro8742=) c.26072C= (p.Pro8691=) | |
6 | g.152122638G>T | CA366089184 | ESR1,SYNE1 | c.2726C>A (p.Pro909Gln) c.26192C>A (p.Pro8731Gln) c.26048C>A (p.Pro8683Gln) c.1535C>A c.1910C>A c.1777C>A c.2042C>A (n.2042C>A) c.24977C>A (p.Pro8326Gln) n.2940C>A c.4968C>A (n.4968C>A) n.9884C>A c.4071C>A (n.4071C>A) n.9776C>A c.851-2628G>T (n.851-2628G>T) n.2806C>A n.6829C>A n.2970C>A c.2657C>A (p.Pro886Gln) c.26339C>A (p.Pro8780Gln) c.26327C>A (p.Pro8776Gln) c.26318C>A (p.Pro8773Gln) c.26297C>A (p.Pro8766Gln) c.26288C>A (p.Pro8763Gln) c.26282C>A (p.Pro8761Gln) c.26270C>A (p.Pro8757Gln) c.26267C>A (p.Pro8756Gln) c.26228C>A (p.Pro8743Gln) c.26213C>A (p.Pro8738Gln) c.26198C>A (p.Pro8733Gln) c.26186C>A (p.Pro8729Gln) c.26183C>A (p.Pro8728Gln) c.26180C>A (p.Pro8727Gln) c.*3C>A (n.*3C>A) c.26336C>A (p.Pro8779Gln) c.26324C>A (p.Pro8775Gln) c.26174C>A (p.Pro8725Gln) c.24614C>A (p.Pro8205Gln) c.24107C>A (p.Pro8036Gln) c.19574C>A (p.Pro6525Gln) c.26312C>A (p.Pro8771Gln) c.26261C>A (p.Pro8754Gln) c.26225C>A (p.Pro8742Gln) c.26072C>A (p.Pro8691Gln) | |
6 | g.152122639G>A | CA366089185 | ESR1,SYNE1 | c.2725C>T (p.Pro909Ser) c.26191C>T (p.Pro8731Ser) c.26047C>T (p.Pro8683Ser) c.1534C>T c.1909C>T c.1776C>T c.2041C>T (n.2041C>T) c.24976C>T (p.Pro8326Ser) n.2939C>T c.4967C>T (n.4967C>T) n.9883C>T c.4070C>T (n.4070C>T) n.9775C>T c.851-2627G>A (n.851-2627G>A) n.2805C>T n.6828C>T n.2969C>T c.2656C>T (p.Pro886Ser) c.26338C>T (p.Pro8780Ser) c.26326C>T (p.Pro8776Ser) c.26317C>T (p.Pro8773Ser) c.26296C>T (p.Pro8766Ser) c.26287C>T (p.Pro8763Ser) c.26281C>T (p.Pro8761Ser) c.26269C>T (p.Pro8757Ser) c.26266C>T (p.Pro8756Ser) c.26227C>T (p.Pro8743Ser) c.26212C>T (p.Pro8738Ser) c.26197C>T (p.Pro8733Ser) c.26185C>T (p.Pro8729Ser) c.26182C>T (p.Pro8728Ser) c.26179C>T (p.Pro8727Ser) c.*2C>T (n.*2C>T) c.26335C>T (p.Pro8779Ser) c.26323C>T (p.Pro8775Ser) c.26173C>T (p.Pro8725Ser) c.24613C>T (p.Pro8205Ser) c.24106C>T (p.Pro8036Ser) c.19573C>T (p.Pro6525Ser) c.26311C>T (p.Pro8771Ser) c.26260C>T (p.Pro8754Ser) c.26224C>T (p.Pro8742Ser) c.26071C>T (p.Pro8691Ser) | |
6 | g.152122639G>C | CA366089186 | ESR1,SYNE1 | c.2725C>G (p.Pro909Ala) c.26191C>G (p.Pro8731Ala) c.26047C>G (p.Pro8683Ala) c.1534C>G c.1909C>G c.1776C>G c.2041C>G (n.2041C>G) c.24976C>G (p.Pro8326Ala) n.2939C>G c.4967C>G (n.4967C>G) n.9883C>G c.4070C>G (n.4070C>G) n.9775C>G c.851-2627G>C (n.851-2627G>C) n.2805C>G n.6828C>G n.2969C>G c.2656C>G (p.Pro886Ala) c.26338C>G (p.Pro8780Ala) c.26326C>G (p.Pro8776Ala) c.26317C>G (p.Pro8773Ala) c.26296C>G (p.Pro8766Ala) c.26287C>G (p.Pro8763Ala) c.26281C>G (p.Pro8761Ala) c.26269C>G (p.Pro8757Ala) c.26266C>G (p.Pro8756Ala) c.26227C>G (p.Pro8743Ala) c.26212C>G (p.Pro8738Ala) c.26197C>G (p.Pro8733Ala) c.26185C>G (p.Pro8729Ala) c.26182C>G (p.Pro8728Ala) c.26179C>G (p.Pro8727Ala) c.*2C>G (n.*2C>G) c.26335C>G (p.Pro8779Ala) c.26323C>G (p.Pro8775Ala) c.26173C>G (p.Pro8725Ala) c.24613C>G (p.Pro8205Ala) c.24106C>G (p.Pro8036Ala) c.19573C>G (p.Pro6525Ala) c.26311C>G (p.Pro8771Ala) c.26260C>G (p.Pro8754Ala) c.26224C>G (p.Pro8742Ala) c.26071C>G (p.Pro8691Ala) | |
6 | g.152122639G>T | CA366089187 | ESR1,SYNE1 | c.2725C>A (p.Pro909Thr) c.26191C>A (p.Pro8731Thr) c.26047C>A (p.Pro8683Thr) c.1534C>A c.1909C>A c.1776C>A c.2041C>A (n.2041C>A) c.24976C>A (p.Pro8326Thr) n.2939C>A c.4967C>A (n.4967C>A) n.9883C>A c.4070C>A (n.4070C>A) n.9775C>A c.851-2627G>T (n.851-2627G>T) n.2805C>A n.6828C>A n.2969C>A c.2656C>A (p.Pro886Thr) c.26338C>A (p.Pro8780Thr) c.26326C>A (p.Pro8776Thr) c.26317C>A (p.Pro8773Thr) c.26296C>A (p.Pro8766Thr) c.26287C>A (p.Pro8763Thr) c.26281C>A (p.Pro8761Thr) c.26269C>A (p.Pro8757Thr) c.26266C>A (p.Pro8756Thr) c.26227C>A (p.Pro8743Thr) c.26212C>A (p.Pro8738Thr) c.26197C>A (p.Pro8733Thr) c.26185C>A (p.Pro8729Thr) c.26182C>A (p.Pro8728Thr) c.26179C>A (p.Pro8727Thr) c.*2C>A (n.*2C>A) c.26335C>A (p.Pro8779Thr) c.26323C>A (p.Pro8775Thr) c.26173C>A (p.Pro8725Thr) c.24613C>A (p.Pro8205Thr) c.24106C>A (p.Pro8036Thr) c.19573C>A (p.Pro6525Thr) c.26311C>A (p.Pro8771Thr) c.26260C>A (p.Pro8754Thr) c.26224C>A (p.Pro8742Thr) c.26071C>A (p.Pro8691Thr) | gnomAD v4 |
6 | g.152122640C>A | CA366089188 | ESR1,SYNE1 | c.2724G>T (p.Glu908Asp) c.26190G>T (p.Glu8730Asp) c.26046G>T (p.Glu8682Asp) c.1533G>T c.1908G>T c.1775G>T c.2040G>T (n.2040G>T) c.24975G>T (p.Glu8325Asp) n.2938G>T c.4966G>T (n.4966G>T) n.9882G>T c.4069G>T (n.4069G>T) n.9774G>T c.851-2626C>A (n.851-2626C>A) n.2804G>T n.6827G>T n.2968G>T c.2655G>T (p.Glu885Asp) c.26337G>T (p.Glu8779Asp) c.26325G>T (p.Glu8775Asp) c.26316G>T (p.Glu8772Asp) c.26295G>T (p.Glu8765Asp) c.26286G>T (p.Glu8762Asp) c.26280G>T (p.Glu8760Asp) c.26268G>T (p.Glu8756Asp) c.26265G>T (p.Glu8755Asp) c.26226G>T (p.Glu8742Asp) c.26211G>T (p.Glu8737Asp) c.26196G>T (p.Glu8732Asp) c.26184G>T (p.Glu8728Asp) c.26181G>T (p.Glu8727Asp) c.26178G>T (p.Glu8726Asp) c.*1G>T (n.*1G>T) c.26334G>T (p.Glu8778Asp) c.26322G>T (p.Glu8774Asp) c.26172G>T (p.Glu8724Asp) c.24612G>T (p.Glu8204Asp) c.24105G>T (p.Glu8035Asp) c.19572G>T (p.Glu6524Asp) c.26310G>T (p.Glu8770Asp) c.26259G>T (p.Glu8753Asp) c.26223G>T (p.Glu8741Asp) c.26070G>T (p.Glu8690Asp) | |
6 | g.152122640C= | CA1673189231 | ESR1,SYNE1 | c.2724G= (p.Glu908=) c.26190G= (p.Glu8730=) c.26046G= (p.Glu8682=) c.1533G= c.1908G= c.1775G= c.2040G= (n.2040G=) c.24975G= (p.Glu8325=) n.2938G= c.4966G= (n.4966G=) n.9882G= c.4069G= (n.4069G=) n.9774G= c.851-2626C= (n.851-2626C=) n.2804G= n.6827G= n.2968G= c.2655G= (p.Glu885=) c.26337G= (p.Glu8779=) c.26325G= (p.Glu8775=) c.26316G= (p.Glu8772=) c.26295G= (p.Glu8765=) c.26286G= (p.Glu8762=) c.26280G= (p.Glu8760=) c.26268G= (p.Glu8756=) c.26265G= (p.Glu8755=) c.26226G= (p.Glu8742=) c.26211G= (p.Glu8737=) c.26196G= (p.Glu8732=) c.26184G= (p.Glu8728=) c.26181G= (p.Glu8727=) c.26178G= (p.Glu8726=) c.*1G= (n.*1G=) c.26334G= (p.Glu8778=) c.26322G= (p.Glu8774=) c.26172G= (p.Glu8724=) c.24612G= (p.Glu8204=) c.24105G= (p.Glu8035=) c.19572G= (p.Glu6524=) c.26310G= (p.Glu8770=) c.26259G= (p.Glu8753=) c.26223G= (p.Glu8741=) c.26070G= (p.Glu8690=) | |
6 | g.152122640C>G | CA366089189 | ESR1,SYNE1 | c.2724G>C (p.Glu908Asp) c.26190G>C (p.Glu8730Asp) c.26046G>C (p.Glu8682Asp) c.1533G>C c.1908G>C c.1775G>C c.2040G>C (n.2040G>C) c.24975G>C (p.Glu8325Asp) n.2938G>C c.4966G>C (n.4966G>C) n.9882G>C c.4069G>C (n.4069G>C) n.9774G>C c.851-2626C>G (n.851-2626C>G) n.2804G>C n.6827G>C n.2968G>C c.2655G>C (p.Glu885Asp) c.26337G>C (p.Glu8779Asp) c.26325G>C (p.Glu8775Asp) c.26316G>C (p.Glu8772Asp) c.26295G>C (p.Glu8765Asp) c.26286G>C (p.Glu8762Asp) c.26280G>C (p.Glu8760Asp) c.26268G>C (p.Glu8756Asp) c.26265G>C (p.Glu8755Asp) c.26226G>C (p.Glu8742Asp) c.26211G>C (p.Glu8737Asp) c.26196G>C (p.Glu8732Asp) c.26184G>C (p.Glu8728Asp) c.26181G>C (p.Glu8727Asp) c.26178G>C (p.Glu8726Asp) c.*1G>C (n.*1G>C) c.26334G>C (p.Glu8778Asp) c.26322G>C (p.Glu8774Asp) c.26172G>C (p.Glu8724Asp) c.24612G>C (p.Glu8204Asp) c.24105G>C (p.Glu8035Asp) c.19572G>C (p.Glu6524Asp) c.26310G>C (p.Glu8770Asp) c.26259G>C (p.Glu8753Asp) c.26223G>C (p.Glu8741Asp) c.26070G>C (p.Glu8690Asp) | |
6 | g.152122640C>T | CA452969694 | ESR1,SYNE1 | c.2724G>A (p.Glu908=) c.26190G>A (p.Glu8730=) c.26046G>A (p.Glu8682=) c.1533G>A c.1908G>A c.1775G>A c.2040G>A (n.2040G>A) c.24975G>A (p.Glu8325=) n.2938G>A c.4966G>A (n.4966G>A) n.9882G>A c.4069G>A (n.4069G>A) n.9774G>A c.851-2626C>T (n.851-2626C>T) n.2804G>A n.6827G>A n.2968G>A c.2655G>A (p.Glu885=) c.26337G>A (p.Glu8779=) c.26325G>A (p.Glu8775=) c.26316G>A (p.Glu8772=) c.26295G>A (p.Glu8765=) c.26286G>A (p.Glu8762=) c.26280G>A (p.Glu8760=) c.26268G>A (p.Glu8756=) c.26265G>A (p.Glu8755=) c.26226G>A (p.Glu8742=) c.26211G>A (p.Glu8737=) c.26196G>A (p.Glu8732=) c.26184G>A (p.Glu8728=) c.26181G>A (p.Glu8727=) c.26178G>A (p.Glu8726=) c.*1G>A (n.*1G>A) c.26334G>A (p.Glu8778=) c.26322G>A (p.Glu8774=) c.26172G>A (p.Glu8724=) c.24612G>A (p.Glu8204=) c.24105G>A (p.Glu8035=) c.19572G>A (p.Glu6524=) c.26310G>A (p.Glu8770=) c.26259G>A (p.Glu8753=) c.26223G>A (p.Glu8741=) c.26070G>A (p.Glu8690=) | dbSNP gnomAD v4 |
6 | g.152122641T>A | CA366089192 | ESR1,SYNE1 | c.2723A>T (p.Glu908Val) c.26189A>T (p.Glu8730Val) c.26045A>T (p.Glu8682Val) c.1532A>T c.1907A>T c.1774A>T c.2039A>T (n.2039A>T) c.24974A>T (p.Glu8325Val) n.2937A>T c.4965A>T (p.Ter1655Cys) n.9881A>T c.4068A>T (p.Ter1356Cys) n.9773A>T c.851-2625T>A (n.851-2625T>A) n.2803A>T n.6826A>T n.2967A>T c.2654A>T (p.Glu885Val) c.26336A>T (p.Glu8779Val) c.26324A>T (p.Glu8775Val) c.26315A>T (p.Glu8772Val) c.26294A>T (p.Glu8765Val) c.26285A>T (p.Glu8762Val) c.26279A>T (p.Glu8760Val) c.26267A>T (p.Glu8756Val) c.26264A>T (p.Glu8755Val) c.26225A>T (p.Glu8742Val) c.26210A>T (p.Glu8737Val) c.26195A>T (p.Glu8732Val) c.26183A>T (p.Glu8728Val) c.26180A>T (p.Glu8727Val) c.26177A>T (p.Glu8726Val) c.26277A>T (p.Ter8759Cys) c.26235A>T (p.Ter8745Cys) c.26166A>T (p.Ter8722Cys) c.26333A>T (p.Glu8778Val) c.26321A>T (p.Glu8774Val) c.26171A>T (p.Glu8724Val) c.24611A>T (p.Glu8204Val) c.24104A>T (p.Glu8035Val) c.19571A>T (p.Glu6524Val) c.2736A>T (p.Ter912Cys) c.26309A>T (p.Glu8770Val) c.26258A>T (p.Glu8753Val) c.26222A>T (p.Glu8741Val) c.26069A>T (p.Glu8690Val) c.26208A>T (p.Ter8736Cys) c.26163A>T (p.Ter8721Cys) c.26151A>T (p.Ter8717Cys) | |
6 | g.152122641T>C | CA366089191 | ESR1,SYNE1 | c.2723A>G (p.Glu908Gly) c.26189A>G (p.Glu8730Gly) c.26045A>G (p.Glu8682Gly) c.1532A>G c.1907A>G c.1774A>G c.2039A>G (n.2039A>G) c.24974A>G (p.Glu8325Gly) n.2937A>G c.4965A>G (p.Ter1655Trp) n.9881A>G c.4068A>G (p.Ter1356Trp) n.9773A>G c.851-2625T>C (n.851-2625T>C) n.2803A>G n.6826A>G n.2967A>G c.2654A>G (p.Glu885Gly) c.26336A>G (p.Glu8779Gly) c.26324A>G (p.Glu8775Gly) c.26315A>G (p.Glu8772Gly) c.26294A>G (p.Glu8765Gly) c.26285A>G (p.Glu8762Gly) c.26279A>G (p.Glu8760Gly) c.26267A>G (p.Glu8756Gly) c.26264A>G (p.Glu8755Gly) c.26225A>G (p.Glu8742Gly) c.26210A>G (p.Glu8737Gly) c.26195A>G (p.Glu8732Gly) c.26183A>G (p.Glu8728Gly) c.26180A>G (p.Glu8727Gly) c.26177A>G (p.Glu8726Gly) c.26277A>G (p.Ter8759Trp) c.26235A>G (p.Ter8745Trp) c.26166A>G (p.Ter8722Trp) c.26333A>G (p.Glu8778Gly) c.26321A>G (p.Glu8774Gly) c.26171A>G (p.Glu8724Gly) c.24611A>G (p.Glu8204Gly) c.24104A>G (p.Glu8035Gly) c.19571A>G (p.Glu6524Gly) c.2736A>G (p.Ter912Trp) c.26309A>G (p.Glu8770Gly) c.26258A>G (p.Glu8753Gly) c.26222A>G (p.Glu8741Gly) c.26069A>G (p.Glu8690Gly) c.26208A>G (p.Ter8736Trp) c.26163A>G (p.Ter8721Trp) c.26151A>G (p.Ter8717Trp) | |
6 | g.152122641T>G | CA366089190 | ESR1,SYNE1 | c.2723A>C (p.Glu908Ala) c.26189A>C (p.Glu8730Ala) c.26045A>C (p.Glu8682Ala) c.1532A>C c.1907A>C c.1774A>C c.2039A>C (n.2039A>C) c.24974A>C (p.Glu8325Ala) n.2937A>C c.4965A>C (p.Ter1655Cys) n.9881A>C c.4068A>C (p.Ter1356Cys) n.9773A>C c.851-2625T>G (n.851-2625T>G) n.2803A>C n.6826A>C n.2967A>C c.2654A>C (p.Glu885Ala) c.26336A>C (p.Glu8779Ala) c.26324A>C (p.Glu8775Ala) c.26315A>C (p.Glu8772Ala) c.26294A>C (p.Glu8765Ala) c.26285A>C (p.Glu8762Ala) c.26279A>C (p.Glu8760Ala) c.26267A>C (p.Glu8756Ala) c.26264A>C (p.Glu8755Ala) c.26225A>C (p.Glu8742Ala) c.26210A>C (p.Glu8737Ala) c.26195A>C (p.Glu8732Ala) c.26183A>C (p.Glu8728Ala) c.26180A>C (p.Glu8727Ala) c.26177A>C (p.Glu8726Ala) c.26277A>C (p.Ter8759Cys) c.26235A>C (p.Ter8745Cys) c.26166A>C (p.Ter8722Cys) c.26333A>C (p.Glu8778Ala) c.26321A>C (p.Glu8774Ala) c.26171A>C (p.Glu8724Ala) c.24611A>C (p.Glu8204Ala) c.24104A>C (p.Glu8035Ala) c.19571A>C (p.Glu6524Ala) c.2736A>C (p.Ter912Cys) c.26309A>C (p.Glu8770Ala) c.26258A>C (p.Glu8753Ala) c.26222A>C (p.Glu8741Ala) c.26069A>C (p.Glu8690Ala) c.26208A>C (p.Ter8736Cys) c.26163A>C (p.Ter8721Cys) c.26151A>C (p.Ter8717Cys) | |
6 | g.152122642C>A | CA366089193 | ESR1,SYNE1 | c.2722G>T (p.Glu908Ter) c.26188G>T (p.Glu8730Ter) c.26044G>T (p.Glu8682Ter) c.1531G>T c.1906G>T c.1773G>T c.2038G>T (n.2038G>T) c.24973G>T (p.Glu8325Ter) n.2936G>T c.4964G>T (p.Ter1655Leu) n.9880G>T c.4067G>T (p.Ter1356Leu) n.9772G>T c.851-2624C>A (n.851-2624C>A) n.2802G>T n.6825G>T n.2966G>T c.2653G>T (p.Glu885Ter) c.26335G>T (p.Glu8779Ter) c.26323G>T (p.Glu8775Ter) c.26314G>T (p.Glu8772Ter) c.26293G>T (p.Glu8765Ter) c.26284G>T (p.Glu8762Ter) c.26278G>T (p.Glu8760Ter) c.26266G>T (p.Glu8756Ter) c.26263G>T (p.Glu8755Ter) c.26224G>T (p.Glu8742Ter) c.26209G>T (p.Glu8737Ter) c.26194G>T (p.Glu8732Ter) c.26182G>T (p.Glu8728Ter) c.26179G>T (p.Glu8727Ter) c.26176G>T (p.Glu8726Ter) c.26276G>T (p.Ter8759Leu) c.26234G>T (p.Ter8745Leu) c.26165G>T (p.Ter8722Leu) c.26332G>T (p.Glu8778Ter) c.26320G>T (p.Glu8774Ter) c.26170G>T (p.Glu8724Ter) c.24610G>T (p.Glu8204Ter) c.24103G>T (p.Glu8035Ter) c.19570G>T (p.Glu6524Ter) c.2735G>T (p.Ter912Leu) c.26308G>T (p.Glu8770Ter) c.26257G>T (p.Glu8753Ter) c.26221G>T (p.Glu8741Ter) c.26068G>T (p.Glu8690Ter) c.26207G>T (p.Ter8736Leu) c.26162G>T (p.Ter8721Leu) c.26150G>T (p.Ter8717Leu) | |
6 | g.152122642C>G | CA366089195 | ESR1,SYNE1 | c.2722G>C (p.Glu908Gln) c.26188G>C (p.Glu8730Gln) c.26044G>C (p.Glu8682Gln) c.1531G>C c.1906G>C c.1773G>C c.2038G>C (n.2038G>C) c.24973G>C (p.Glu8325Gln) n.2936G>C c.4964G>C (p.Ter1655Ser) n.9880G>C c.4067G>C (p.Ter1356Ser) n.9772G>C c.851-2624C>G (n.851-2624C>G) n.2802G>C n.6825G>C n.2966G>C c.2653G>C (p.Glu885Gln) c.26335G>C (p.Glu8779Gln) c.26323G>C (p.Glu8775Gln) c.26314G>C (p.Glu8772Gln) c.26293G>C (p.Glu8765Gln) c.26284G>C (p.Glu8762Gln) c.26278G>C (p.Glu8760Gln) c.26266G>C (p.Glu8756Gln) c.26263G>C (p.Glu8755Gln) c.26224G>C (p.Glu8742Gln) c.26209G>C (p.Glu8737Gln) c.26194G>C (p.Glu8732Gln) c.26182G>C (p.Glu8728Gln) c.26179G>C (p.Glu8727Gln) c.26176G>C (p.Glu8726Gln) c.26276G>C (p.Ter8759Ser) c.26234G>C (p.Ter8745Ser) c.26165G>C (p.Ter8722Ser) c.26332G>C (p.Glu8778Gln) c.26320G>C (p.Glu8774Gln) c.26170G>C (p.Glu8724Gln) c.24610G>C (p.Glu8204Gln) c.24103G>C (p.Glu8035Gln) c.19570G>C (p.Glu6524Gln) c.2735G>C (p.Ter912Ser) c.26308G>C (p.Glu8770Gln) c.26257G>C (p.Glu8753Gln) c.26221G>C (p.Glu8741Gln) c.26068G>C (p.Glu8690Gln) c.26207G>C (p.Ter8736Ser) c.26162G>C (p.Ter8721Ser) c.26150G>C (p.Ter8717Ser) | |
6 | g.152122642C>T | CA366089194 | ESR1,SYNE1 | c.2722G>A (p.Glu908Lys) c.26188G>A (p.Glu8730Lys) c.26044G>A (p.Glu8682Lys) c.1531G>A c.1906G>A c.1773G>A c.2038G>A (n.2038G>A) c.24973G>A (p.Glu8325Lys) n.2936G>A c.4964G>A (p.Ter1655=) n.9880G>A c.4067G>A (p.Ter1356=) n.9772G>A c.851-2624C>T (n.851-2624C>T) n.2802G>A n.6825G>A n.2966G>A c.2653G>A (p.Glu885Lys) c.26335G>A (p.Glu8779Lys) c.26323G>A (p.Glu8775Lys) c.26314G>A (p.Glu8772Lys) c.26293G>A (p.Glu8765Lys) c.26284G>A (p.Glu8762Lys) c.26278G>A (p.Glu8760Lys) c.26266G>A (p.Glu8756Lys) c.26263G>A (p.Glu8755Lys) c.26224G>A (p.Glu8742Lys) c.26209G>A (p.Glu8737Lys) c.26194G>A (p.Glu8732Lys) c.26182G>A (p.Glu8728Lys) c.26179G>A (p.Glu8727Lys) c.26176G>A (p.Glu8726Lys) c.26276G>A (p.Ter8759=) c.26234G>A (p.Ter8745=) c.26165G>A (p.Ter8722=) c.26332G>A (p.Glu8778Lys) c.26320G>A (p.Glu8774Lys) c.26170G>A (p.Glu8724Lys) c.24610G>A (p.Glu8204Lys) c.24103G>A (p.Glu8035Lys) c.19570G>A (p.Glu6524Lys) c.2735G>A (p.Ter912=) c.26308G>A (p.Glu8770Lys) c.26257G>A (p.Glu8753Lys) c.26221G>A (p.Glu8741Lys) c.26068G>A (p.Glu8690Lys) c.26207G>A (p.Ter8736=) c.26162G>A (p.Ter8721=) c.26150G>A (p.Ter8717=) | |
6 | g.152122643A>C | CA366089196 | ESR1,SYNE1 | c.2721T>G (p.Ser907=) c.26187T>G (p.Ser8729=) c.26043T>G (p.Ser8681=) c.1530T>G c.1905T>G c.1772T>G c.2037T>G (n.2037T>G) c.24972T>G (p.Ser8324=) n.2935T>G c.4963T>G (p.Ter1655Gly) n.9879T>G c.4066T>G (p.Ter1356Gly) n.9771T>G c.851-2623A>C (n.851-2623A>C) n.2801T>G n.6824T>G n.2965T>G c.2652T>G (p.Ser884=) c.26334T>G (p.Ser8778=) c.26322T>G (p.Ser8774=) c.26313T>G (p.Ser8771=) c.26292T>G (p.Ser8764=) c.26283T>G (p.Ser8761=) c.26277T>G (p.Ser8759=) c.26265T>G (p.Ser8755=) c.26262T>G (p.Ser8754=) c.26223T>G (p.Ser8741=) c.26208T>G (p.Ser8736=) c.26193T>G (p.Ser8731=) c.26181T>G (p.Ser8727=) c.26178T>G (p.Ser8726=) c.26175T>G (p.Ser8725=) c.26275T>G (p.Ter8759Gly) c.26233T>G (p.Ter8745Gly) c.26164T>G (p.Ter8722Gly) c.26331T>G (p.Ser8777=) c.26319T>G (p.Ser8773=) c.26169T>G (p.Ser8723=) c.24609T>G (p.Ser8203=) c.24102T>G (p.Ser8034=) c.19569T>G (p.Ser6523=) c.2734T>G (p.Ter912Gly) c.26307T>G (p.Ser8769=) c.26256T>G (p.Ser8752=) c.26220T>G (p.Ser8740=) c.26067T>G (p.Ser8689=) c.26206T>G (p.Ter8736Gly) c.26161T>G (p.Ter8721Gly) c.26149T>G (p.Ter8717Gly) | gnomAD v4 |
6 | g.152122643A>G | CA366089197 | ESR1,SYNE1 | c.2721T>C (p.Ser907=) c.26187T>C (p.Ser8729=) c.26043T>C (p.Ser8681=) c.1530T>C c.1905T>C c.1772T>C c.2037T>C (n.2037T>C) c.24972T>C (p.Ser8324=) n.2935T>C c.4963T>C (p.Ter1655Arg) n.9879T>C c.4066T>C (p.Ter1356Arg) n.9771T>C c.851-2623A>G (n.851-2623A>G) n.2801T>C n.6824T>C n.2965T>C c.2652T>C (p.Ser884=) c.26334T>C (p.Ser8778=) c.26322T>C (p.Ser8774=) c.26313T>C (p.Ser8771=) c.26292T>C (p.Ser8764=) c.26283T>C (p.Ser8761=) c.26277T>C (p.Ser8759=) c.26265T>C (p.Ser8755=) c.26262T>C (p.Ser8754=) c.26223T>C (p.Ser8741=) c.26208T>C (p.Ser8736=) c.26193T>C (p.Ser8731=) c.26181T>C (p.Ser8727=) c.26178T>C (p.Ser8726=) c.26175T>C (p.Ser8725=) c.26275T>C (p.Ter8759Arg) c.26233T>C (p.Ter8745Arg) c.26164T>C (p.Ter8722Arg) c.26331T>C (p.Ser8777=) c.26319T>C (p.Ser8773=) c.26169T>C (p.Ser8723=) c.24609T>C (p.Ser8203=) c.24102T>C (p.Ser8034=) c.19569T>C (p.Ser6523=) c.2734T>C (p.Ter912Arg) c.26307T>C (p.Ser8769=) c.26256T>C (p.Ser8752=) c.26220T>C (p.Ser8740=) c.26067T>C (p.Ser8689=) c.26206T>C (p.Ter8736Arg) c.26161T>C (p.Ter8721Arg) c.26149T>C (p.Ter8717Arg) | |
6 | g.152122643A>T | CA366089198 | ESR1,SYNE1 | c.2721T>A (p.Ser907=) c.26187T>A (p.Ser8729=) c.26043T>A (p.Ser8681=) c.1530T>A c.1905T>A c.1772T>A c.2037T>A (n.2037T>A) c.24972T>A (p.Ser8324=) n.2935T>A c.4963T>A (p.Ter1655Arg) n.9879T>A c.4066T>A (p.Ter1356Arg) n.9771T>A c.851-2623A>T (n.851-2623A>T) n.2801T>A n.6824T>A n.2965T>A c.2652T>A (p.Ser884=) c.26334T>A (p.Ser8778=) c.26322T>A (p.Ser8774=) c.26313T>A (p.Ser8771=) c.26292T>A (p.Ser8764=) c.26283T>A (p.Ser8761=) c.26277T>A (p.Ser8759=) c.26265T>A (p.Ser8755=) c.26262T>A (p.Ser8754=) c.26223T>A (p.Ser8741=) c.26208T>A (p.Ser8736=) c.26193T>A (p.Ser8731=) c.26181T>A (p.Ser8727=) c.26178T>A (p.Ser8726=) c.26175T>A (p.Ser8725=) c.26275T>A (p.Ter8759Arg) c.26233T>A (p.Ter8745Arg) c.26164T>A (p.Ter8722Arg) c.26331T>A (p.Ser8777=) c.26319T>A (p.Ser8773=) c.26169T>A (p.Ser8723=) c.24609T>A (p.Ser8203=) c.24102T>A (p.Ser8034=) c.19569T>A (p.Ser6523=) c.2734T>A (p.Ter912Arg) c.26307T>A (p.Ser8769=) c.26256T>A (p.Ser8752=) c.26220T>A (p.Ser8740=) c.26067T>A (p.Ser8689=) c.26206T>A (p.Ter8736Arg) c.26161T>A (p.Ter8721Arg) c.26149T>A (p.Ter8717Arg) | |
6 | g.152122644G>A | CA366089199 | ESR1,SYNE1 | c.2720C>T (p.Ser907Phe) c.26186C>T (p.Ser8729Phe) c.26042C>T (p.Ser8681Phe) c.1529C>T c.1904C>T c.1771C>T c.2036C>T (n.2036C>T) c.24971C>T (p.Ser8324Phe) n.2934C>T c.4962C>T (p.Phe1654=) n.9878C>T c.4065C>T (p.Phe1355=) n.9770C>T c.851-2622G>A (n.851-2622G>A) n.2800C>T n.6823C>T n.2964C>T c.2651C>T (p.Ser884Phe) c.26333C>T (p.Ser8778Phe) c.26321C>T (p.Ser8774Phe) c.26312C>T (p.Ser8771Phe) c.26291C>T (p.Ser8764Phe) c.26282C>T (p.Ser8761Phe) c.26276C>T (p.Ser8759Phe) c.26264C>T (p.Ser8755Phe) c.26261C>T (p.Ser8754Phe) c.26222C>T (p.Ser8741Phe) c.26207C>T (p.Ser8736Phe) c.26192C>T (p.Ser8731Phe) c.26180C>T (p.Ser8727Phe) c.26177C>T (p.Ser8726Phe) c.26174C>T (p.Ser8725Phe) c.26274C>T (p.Phe8758=) c.26232C>T (p.Phe8744=) c.26163C>T (p.Phe8721=) c.26330C>T (p.Ser8777Phe) c.26318C>T (p.Ser8773Phe) c.26168C>T (p.Ser8723Phe) c.24608C>T (p.Ser8203Phe) c.24101C>T (p.Ser8034Phe) c.19568C>T (p.Ser6523Phe) c.2733C>T (p.Phe911=) c.26306C>T (p.Ser8769Phe) c.26255C>T (p.Ser8752Phe) c.26219C>T (p.Ser8740Phe) c.26066C>T (p.Ser8689Phe) c.26205C>T (p.Phe8735=) c.26160C>T (p.Phe8720=) c.26148C>T (p.Phe8716=) | |
6 | g.152122644G>C | CA366089200 | ESR1,SYNE1 | c.2720C>G (p.Ser907Cys) c.26186C>G (p.Ser8729Cys) c.26042C>G (p.Ser8681Cys) c.1529C>G c.1904C>G c.1771C>G c.2036C>G (n.2036C>G) c.24971C>G (p.Ser8324Cys) n.2934C>G c.4962C>G (p.Phe1654Leu) n.9878C>G c.4065C>G (p.Phe1355Leu) n.9770C>G c.851-2622G>C (n.851-2622G>C) n.2800C>G n.6823C>G n.2964C>G c.2651C>G (p.Ser884Cys) c.26333C>G (p.Ser8778Cys) c.26321C>G (p.Ser8774Cys) c.26312C>G (p.Ser8771Cys) c.26291C>G (p.Ser8764Cys) c.26282C>G (p.Ser8761Cys) c.26276C>G (p.Ser8759Cys) c.26264C>G (p.Ser8755Cys) c.26261C>G (p.Ser8754Cys) c.26222C>G (p.Ser8741Cys) c.26207C>G (p.Ser8736Cys) c.26192C>G (p.Ser8731Cys) c.26180C>G (p.Ser8727Cys) c.26177C>G (p.Ser8726Cys) c.26174C>G (p.Ser8725Cys) c.26274C>G (p.Phe8758Leu) c.26232C>G (p.Phe8744Leu) c.26163C>G (p.Phe8721Leu) c.26330C>G (p.Ser8777Cys) c.26318C>G (p.Ser8773Cys) c.26168C>G (p.Ser8723Cys) c.24608C>G (p.Ser8203Cys) c.24101C>G (p.Ser8034Cys) c.19568C>G (p.Ser6523Cys) c.2733C>G (p.Phe911Leu) c.26306C>G (p.Ser8769Cys) c.26255C>G (p.Ser8752Cys) c.26219C>G (p.Ser8740Cys) c.26066C>G (p.Ser8689Cys) c.26205C>G (p.Phe8735Leu) c.26160C>G (p.Phe8720Leu) c.26148C>G (p.Phe8716Leu) | |
6 | g.152122644G>T | CA366089201 | ESR1,SYNE1 | c.2720C>A (p.Ser907Tyr) c.26186C>A (p.Ser8729Tyr) c.26042C>A (p.Ser8681Tyr) c.1529C>A c.1904C>A c.1771C>A c.2036C>A (n.2036C>A) c.24971C>A (p.Ser8324Tyr) n.2934C>A c.4962C>A (p.Phe1654Leu) n.9878C>A c.4065C>A (p.Phe1355Leu) n.9770C>A c.851-2622G>T (n.851-2622G>T) n.2800C>A n.6823C>A n.2964C>A c.2651C>A (p.Ser884Tyr) c.26333C>A (p.Ser8778Tyr) c.26321C>A (p.Ser8774Tyr) c.26312C>A (p.Ser8771Tyr) c.26291C>A (p.Ser8764Tyr) c.26282C>A (p.Ser8761Tyr) c.26276C>A (p.Ser8759Tyr) c.26264C>A (p.Ser8755Tyr) c.26261C>A (p.Ser8754Tyr) c.26222C>A (p.Ser8741Tyr) c.26207C>A (p.Ser8736Tyr) c.26192C>A (p.Ser8731Tyr) c.26180C>A (p.Ser8727Tyr) c.26177C>A (p.Ser8726Tyr) c.26174C>A (p.Ser8725Tyr) c.26274C>A (p.Phe8758Leu) c.26232C>A (p.Phe8744Leu) c.26163C>A (p.Phe8721Leu) c.26330C>A (p.Ser8777Tyr) c.26318C>A (p.Ser8773Tyr) c.26168C>A (p.Ser8723Tyr) c.24608C>A (p.Ser8203Tyr) c.24101C>A (p.Ser8034Tyr) c.19568C>A (p.Ser6523Tyr) c.2733C>A (p.Phe911Leu) c.26306C>A (p.Ser8769Tyr) c.26255C>A (p.Ser8752Tyr) c.26219C>A (p.Ser8740Tyr) c.26066C>A (p.Ser8689Tyr) c.26205C>A (p.Phe8735Leu) c.26160C>A (p.Phe8720Leu) c.26148C>A (p.Phe8716Leu) | |
6 | g.152122645A= | CA1673189237 | ESR1,SYNE1 | c.2719T= (p.Ser907=) c.26185T= (p.Ser8729=) c.26041T= (p.Ser8681=) c.1528T= c.1903T= c.1770T= c.2035T= (n.2035T=) c.24970T= (p.Ser8324=) n.2933T= c.4961T= (p.Phe1654=) n.9877T= c.4064T= (p.Phe1355=) n.9769T= c.851-2621A= (n.851-2621A=) n.2799T= n.6822T= n.2963T= c.2650T= (p.Ser884=) c.26332T= (p.Ser8778=) c.26320T= (p.Ser8774=) c.26311T= (p.Ser8771=) c.26290T= (p.Ser8764=) c.26281T= (p.Ser8761=) c.26275T= (p.Ser8759=) c.26263T= (p.Ser8755=) c.26260T= (p.Ser8754=) c.26221T= (p.Ser8741=) c.26206T= (p.Ser8736=) c.26191T= (p.Ser8731=) c.26179T= (p.Ser8727=) c.26176T= (p.Ser8726=) c.26173T= (p.Ser8725=) c.26273T= (p.Phe8758=) c.26231T= (p.Phe8744=) c.26162T= (p.Phe8721=) c.26329T= (p.Ser8777=) c.26317T= (p.Ser8773=) c.26167T= (p.Ser8723=) c.24607T= (p.Ser8203=) c.24100T= (p.Ser8034=) c.19567T= (p.Ser6523=) c.2732T= (p.Phe911=) c.26305T= (p.Ser8769=) c.26254T= (p.Ser8752=) c.26218T= (p.Ser8740=) c.26065T= (p.Ser8689=) c.26204T= (p.Phe8735=) c.26159T= (p.Phe8720=) c.26147T= (p.Phe8716=) | |
6 | g.152122645A>C | CA366089202 | ESR1,SYNE1 | c.2719T>G (p.Ser907Ala) c.26185T>G (p.Ser8729Ala) c.26041T>G (p.Ser8681Ala) c.1528T>G c.1903T>G c.1770T>G c.2035T>G (n.2035T>G) c.24970T>G (p.Ser8324Ala) n.2933T>G c.4961T>G (p.Phe1654Cys) n.9877T>G c.4064T>G (p.Phe1355Cys) n.9769T>G c.851-2621A>C (n.851-2621A>C) n.2799T>G n.6822T>G n.2963T>G c.2650T>G (p.Ser884Ala) c.26332T>G (p.Ser8778Ala) c.26320T>G (p.Ser8774Ala) c.26311T>G (p.Ser8771Ala) c.26290T>G (p.Ser8764Ala) c.26281T>G (p.Ser8761Ala) c.26275T>G (p.Ser8759Ala) c.26263T>G (p.Ser8755Ala) c.26260T>G (p.Ser8754Ala) c.26221T>G (p.Ser8741Ala) c.26206T>G (p.Ser8736Ala) c.26191T>G (p.Ser8731Ala) c.26179T>G (p.Ser8727Ala) c.26176T>G (p.Ser8726Ala) c.26173T>G (p.Ser8725Ala) c.26273T>G (p.Phe8758Cys) c.26231T>G (p.Phe8744Cys) c.26162T>G (p.Phe8721Cys) c.26329T>G (p.Ser8777Ala) c.26317T>G (p.Ser8773Ala) c.26167T>G (p.Ser8723Ala) c.24607T>G (p.Ser8203Ala) c.24100T>G (p.Ser8034Ala) c.19567T>G (p.Ser6523Ala) c.2732T>G (p.Phe911Cys) c.26305T>G (p.Ser8769Ala) c.26254T>G (p.Ser8752Ala) c.26218T>G (p.Ser8740Ala) c.26065T>G (p.Ser8689Ala) c.26204T>G (p.Phe8735Cys) c.26159T>G (p.Phe8720Cys) c.26147T>G (p.Phe8716Cys) | |
6 | g.152122645A>G | CA366089203 | ESR1,SYNE1 | c.2719T>C (p.Ser907Pro) c.26185T>C (p.Ser8729Pro) c.26041T>C (p.Ser8681Pro) c.1528T>C c.1903T>C c.1770T>C c.2035T>C (n.2035T>C) c.24970T>C (p.Ser8324Pro) n.2933T>C c.4961T>C (p.Phe1654Ser) n.9877T>C c.4064T>C (p.Phe1355Ser) n.9769T>C c.851-2621A>G (n.851-2621A>G) n.2799T>C n.6822T>C n.2963T>C c.2650T>C (p.Ser884Pro) c.26332T>C (p.Ser8778Pro) c.26320T>C (p.Ser8774Pro) c.26311T>C (p.Ser8771Pro) c.26290T>C (p.Ser8764Pro) c.26281T>C (p.Ser8761Pro) c.26275T>C (p.Ser8759Pro) c.26263T>C (p.Ser8755Pro) c.26260T>C (p.Ser8754Pro) c.26221T>C (p.Ser8741Pro) c.26206T>C (p.Ser8736Pro) c.26191T>C (p.Ser8731Pro) c.26179T>C (p.Ser8727Pro) c.26176T>C (p.Ser8726Pro) c.26173T>C (p.Ser8725Pro) c.26273T>C (p.Phe8758Ser) c.26231T>C (p.Phe8744Ser) c.26162T>C (p.Phe8721Ser) c.26329T>C (p.Ser8777Pro) c.26317T>C (p.Ser8773Pro) c.26167T>C (p.Ser8723Pro) c.24607T>C (p.Ser8203Pro) c.24100T>C (p.Ser8034Pro) c.19567T>C (p.Ser6523Pro) c.2732T>C (p.Phe911Ser) c.26305T>C (p.Ser8769Pro) c.26254T>C (p.Ser8752Pro) c.26218T>C (p.Ser8740Pro) c.26065T>C (p.Ser8689Pro) c.26204T>C (p.Phe8735Ser) c.26159T>C (p.Phe8720Ser) c.26147T>C (p.Phe8716Ser) | dbSNP gnomAD v4 |
6 | g.152122645A>T | CA366089204 | ESR1,SYNE1 | c.2719T>A (p.Ser907Thr) c.26185T>A (p.Ser8729Thr) c.26041T>A (p.Ser8681Thr) c.1528T>A c.1903T>A c.1770T>A c.2035T>A (n.2035T>A) c.24970T>A (p.Ser8324Thr) n.2933T>A c.4961T>A (p.Phe1654Tyr) n.9877T>A c.4064T>A (p.Phe1355Tyr) n.9769T>A c.851-2621A>T (n.851-2621A>T) n.2799T>A n.6822T>A n.2963T>A c.2650T>A (p.Ser884Thr) c.26332T>A (p.Ser8778Thr) c.26320T>A (p.Ser8774Thr) c.26311T>A (p.Ser8771Thr) c.26290T>A (p.Ser8764Thr) c.26281T>A (p.Ser8761Thr) c.26275T>A (p.Ser8759Thr) c.26263T>A (p.Ser8755Thr) c.26260T>A (p.Ser8754Thr) c.26221T>A (p.Ser8741Thr) c.26206T>A (p.Ser8736Thr) c.26191T>A (p.Ser8731Thr) c.26179T>A (p.Ser8727Thr) c.26176T>A (p.Ser8726Thr) c.26173T>A (p.Ser8725Thr) c.26273T>A (p.Phe8758Tyr) c.26231T>A (p.Phe8744Tyr) c.26162T>A (p.Phe8721Tyr) c.26329T>A (p.Ser8777Thr) c.26317T>A (p.Ser8773Thr) c.26167T>A (p.Ser8723Thr) c.24607T>A (p.Ser8203Thr) c.24100T>A (p.Ser8034Thr) c.19567T>A (p.Ser6523Thr) c.2732T>A (p.Phe911Tyr) c.26305T>A (p.Ser8769Thr) c.26254T>A (p.Ser8752Thr) c.26218T>A (p.Ser8740Thr) c.26065T>A (p.Ser8689Thr) c.26204T>A (p.Phe8735Tyr) c.26159T>A (p.Phe8720Tyr) c.26147T>A (p.Phe8716Tyr) | |
6 | g.152122646A= | CA1673189244 | ESR1,SYNE1 | c.2718T= (p.Leu906=) c.26184T= (p.Leu8728=) c.26040T= (p.Leu8680=) c.1527T= c.1902T= c.1769T= c.2034T= (n.2034T=) c.24969T= (p.Leu8323=) n.2932T= c.4960T= (p.Phe1654=) n.9876T= c.4063T= (p.Phe1355=) n.9768T= c.851-2620A= (n.851-2620A=) n.2798T= n.6821T= n.2962T= c.2649T= (p.Leu883=) c.26331T= (p.Leu8777=) c.26319T= (p.Leu8773=) c.26310T= (p.Leu8770=) c.26289T= (p.Leu8763=) c.26280T= (p.Leu8760=) c.26274T= (p.Leu8758=) c.26262T= (p.Leu8754=) c.26259T= (p.Leu8753=) c.26220T= (p.Leu8740=) c.26205T= (p.Leu8735=) c.26190T= (p.Leu8730=) c.26178T= (p.Leu8726=) c.26175T= (p.Leu8725=) c.26172T= (p.Leu8724=) c.26272T= (p.Phe8758=) c.26230T= (p.Phe8744=) c.26161T= (p.Phe8721=) c.26328T= (p.Leu8776=) c.26316T= (p.Leu8772=) c.26166T= (p.Leu8722=) c.24606T= (p.Leu8202=) c.24099T= (p.Leu8033=) c.19566T= (p.Leu6522=) c.2731T= (p.Phe911=) c.26304T= (p.Leu8768=) c.26253T= (p.Leu8751=) c.26217T= (p.Leu8739=) c.26064T= (p.Leu8688=) c.26203T= (p.Phe8735=) c.26158T= (p.Phe8720=) c.26146T= (p.Phe8716=) | |
6 | g.152122646A>C | CA366089205 | ESR1,SYNE1 | c.2718T>G (p.Leu906=) c.26184T>G (p.Leu8728=) c.26040T>G (p.Leu8680=) c.1527T>G c.1902T>G c.1769T>G c.2034T>G (n.2034T>G) c.24969T>G (p.Leu8323=) n.2932T>G c.4960T>G (p.Phe1654Val) n.9876T>G c.4063T>G (p.Phe1355Val) n.9768T>G c.851-2620A>C (n.851-2620A>C) n.2798T>G n.6821T>G n.2962T>G c.2649T>G (p.Leu883=) c.26331T>G (p.Leu8777=) c.26319T>G (p.Leu8773=) c.26310T>G (p.Leu8770=) c.26289T>G (p.Leu8763=) c.26280T>G (p.Leu8760=) c.26274T>G (p.Leu8758=) c.26262T>G (p.Leu8754=) c.26259T>G (p.Leu8753=) c.26220T>G (p.Leu8740=) c.26205T>G (p.Leu8735=) c.26190T>G (p.Leu8730=) c.26178T>G (p.Leu8726=) c.26175T>G (p.Leu8725=) c.26172T>G (p.Leu8724=) c.26272T>G (p.Phe8758Val) c.26230T>G (p.Phe8744Val) c.26161T>G (p.Phe8721Val) c.26328T>G (p.Leu8776=) c.26316T>G (p.Leu8772=) c.26166T>G (p.Leu8722=) c.24606T>G (p.Leu8202=) c.24099T>G (p.Leu8033=) c.19566T>G (p.Leu6522=) c.2731T>G (p.Phe911Val) c.26304T>G (p.Leu8768=) c.26253T>G (p.Leu8751=) c.26217T>G (p.Leu8739=) c.26064T>G (p.Leu8688=) c.26203T>G (p.Phe8735Val) c.26158T>G (p.Phe8720Val) c.26146T>G (p.Phe8716Val) | |
6 | g.152122646A>G | CA150189612 | ESR1,SYNE1 | c.2718T>C (p.Leu906=) c.26184T>C (p.Leu8728=) c.26040T>C (p.Leu8680=) c.1527T>C c.1902T>C c.1769T>C c.2034T>C (n.2034T>C) c.24969T>C (p.Leu8323=) n.2932T>C c.4960T>C (p.Phe1654Leu) n.9876T>C c.4063T>C (p.Phe1355Leu) n.9768T>C c.851-2620A>G (n.851-2620A>G) n.2798T>C n.6821T>C n.2962T>C c.2649T>C (p.Leu883=) c.26331T>C (p.Leu8777=) c.26319T>C (p.Leu8773=) c.26310T>C (p.Leu8770=) c.26289T>C (p.Leu8763=) c.26280T>C (p.Leu8760=) c.26274T>C (p.Leu8758=) c.26262T>C (p.Leu8754=) c.26259T>C (p.Leu8753=) c.26220T>C (p.Leu8740=) c.26205T>C (p.Leu8735=) c.26190T>C (p.Leu8730=) c.26178T>C (p.Leu8726=) c.26175T>C (p.Leu8725=) c.26172T>C (p.Leu8724=) c.26272T>C (p.Phe8758Leu) c.26230T>C (p.Phe8744Leu) c.26161T>C (p.Phe8721Leu) c.26328T>C (p.Leu8776=) c.26316T>C (p.Leu8772=) c.26166T>C (p.Leu8722=) c.24606T>C (p.Leu8202=) c.24099T>C (p.Leu8033=) c.19566T>C (p.Leu6522=) c.2731T>C (p.Phe911Leu) c.26304T>C (p.Leu8768=) c.26253T>C (p.Leu8751=) c.26217T>C (p.Leu8739=) c.26064T>C (p.Leu8688=) c.26203T>C (p.Phe8735Leu) c.26158T>C (p.Phe8720Leu) c.26146T>C (p.Phe8716Leu) | dbSNP gnomAD v4 |
6 | g.152122646A>T | CA366089206 | ESR1,SYNE1 | c.2718T>A (p.Leu906=) c.26184T>A (p.Leu8728=) c.26040T>A (p.Leu8680=) c.1527T>A c.1902T>A c.1769T>A c.2034T>A (n.2034T>A) c.24969T>A (p.Leu8323=) n.2932T>A c.4960T>A (p.Phe1654Ile) n.9876T>A c.4063T>A (p.Phe1355Ile) n.9768T>A c.851-2620A>T (n.851-2620A>T) n.2798T>A n.6821T>A n.2962T>A c.2649T>A (p.Leu883=) c.26331T>A (p.Leu8777=) c.26319T>A (p.Leu8773=) c.26310T>A (p.Leu8770=) c.26289T>A (p.Leu8763=) c.26280T>A (p.Leu8760=) c.26274T>A (p.Leu8758=) c.26262T>A (p.Leu8754=) c.26259T>A (p.Leu8753=) c.26220T>A (p.Leu8740=) c.26205T>A (p.Leu8735=) c.26190T>A (p.Leu8730=) c.26178T>A (p.Leu8726=) c.26175T>A (p.Leu8725=) c.26172T>A (p.Leu8724=) c.26272T>A (p.Phe8758Ile) c.26230T>A (p.Phe8744Ile) c.26161T>A (p.Phe8721Ile) c.26328T>A (p.Leu8776=) c.26316T>A (p.Leu8772=) c.26166T>A (p.Leu8722=) c.24606T>A (p.Leu8202=) c.24099T>A (p.Leu8033=) c.19566T>A (p.Leu6522=) c.2731T>A (p.Phe911Ile) c.26304T>A (p.Leu8768=) c.26253T>A (p.Leu8751=) c.26217T>A (p.Leu8739=) c.26064T>A (p.Leu8688=) c.26203T>A (p.Phe8735Ile) c.26158T>A (p.Phe8720Ile) c.26146T>A (p.Phe8716Ile) | |
6 | g.152122647A>C | CA366089209 | ESR1,SYNE1 | c.2717T>G (p.Leu906Arg) c.26183T>G (p.Leu8728Arg) c.26039T>G (p.Leu8680Arg) c.1526T>G c.1901T>G c.1768T>G c.2033T>G (n.2033T>G) c.24968T>G (p.Leu8323Arg) n.2931T>G c.4959T>G (p.Pro1653=) n.9875T>G c.4062T>G (p.Pro1354=) n.9767T>G c.851-2619A>C (n.851-2619A>C) n.2797T>G n.6820T>G n.2961T>G c.2648T>G (p.Leu883Arg) c.26330T>G (p.Leu8777Arg) c.26318T>G (p.Leu8773Arg) c.26309T>G (p.Leu8770Arg) c.26288T>G (p.Leu8763Arg) c.26279T>G (p.Leu8760Arg) c.26273T>G (p.Leu8758Arg) c.26261T>G (p.Leu8754Arg) c.26258T>G (p.Leu8753Arg) c.26219T>G (p.Leu8740Arg) c.26204T>G (p.Leu8735Arg) c.26189T>G (p.Leu8730Arg) c.26177T>G (p.Leu8726Arg) c.26174T>G (p.Leu8725Arg) c.26171T>G (p.Leu8724Arg) c.26271T>G (p.Pro8757=) c.26229T>G (p.Pro8743=) c.26160T>G (p.Pro8720=) c.26327T>G (p.Leu8776Arg) c.26315T>G (p.Leu8772Arg) c.26165T>G (p.Leu8722Arg) c.24605T>G (p.Leu8202Arg) c.24098T>G (p.Leu8033Arg) c.19565T>G (p.Leu6522Arg) c.2730T>G (p.Pro910=) c.26303T>G (p.Leu8768Arg) c.26252T>G (p.Leu8751Arg) c.26216T>G (p.Leu8739Arg) c.26063T>G (p.Leu8688Arg) c.26202T>G (p.Pro8734=) c.26157T>G (p.Pro8719=) c.26145T>G (p.Pro8715=) | |
6 | g.152122647A>G | CA366089208 | ESR1,SYNE1 | c.2717T>C (p.Leu906Pro) c.26183T>C (p.Leu8728Pro) c.26039T>C (p.Leu8680Pro) c.1526T>C c.1901T>C c.1768T>C c.2033T>C (n.2033T>C) c.24968T>C (p.Leu8323Pro) n.2931T>C c.4959T>C (p.Pro1653=) n.9875T>C c.4062T>C (p.Pro1354=) n.9767T>C c.851-2619A>G (n.851-2619A>G) n.2797T>C n.6820T>C n.2961T>C c.2648T>C (p.Leu883Pro) c.26330T>C (p.Leu8777Pro) c.26318T>C (p.Leu8773Pro) c.26309T>C (p.Leu8770Pro) c.26288T>C (p.Leu8763Pro) c.26279T>C (p.Leu8760Pro) c.26273T>C (p.Leu8758Pro) c.26261T>C (p.Leu8754Pro) c.26258T>C (p.Leu8753Pro) c.26219T>C (p.Leu8740Pro) c.26204T>C (p.Leu8735Pro) c.26189T>C (p.Leu8730Pro) c.26177T>C (p.Leu8726Pro) c.26174T>C (p.Leu8725Pro) c.26171T>C (p.Leu8724Pro) c.26271T>C (p.Pro8757=) c.26229T>C (p.Pro8743=) c.26160T>C (p.Pro8720=) c.26327T>C (p.Leu8776Pro) c.26315T>C (p.Leu8772Pro) c.26165T>C (p.Leu8722Pro) c.24605T>C (p.Leu8202Pro) c.24098T>C (p.Leu8033Pro) c.19565T>C (p.Leu6522Pro) c.2730T>C (p.Pro910=) c.26303T>C (p.Leu8768Pro) c.26252T>C (p.Leu8751Pro) c.26216T>C (p.Leu8739Pro) c.26063T>C (p.Leu8688Pro) c.26202T>C (p.Pro8734=) c.26157T>C (p.Pro8719=) c.26145T>C (p.Pro8715=) | |
6 | g.152122647A>T | CA366089207 | ESR1,SYNE1 | c.2717T>A (p.Leu906His) c.26183T>A (p.Leu8728His) c.26039T>A (p.Leu8680His) c.1526T>A c.1901T>A c.1768T>A c.2033T>A (n.2033T>A) c.24968T>A (p.Leu8323His) n.2931T>A c.4959T>A (p.Pro1653=) n.9875T>A c.4062T>A (p.Pro1354=) n.9767T>A c.851-2619A>T (n.851-2619A>T) n.2797T>A n.6820T>A n.2961T>A c.2648T>A (p.Leu883His) c.26330T>A (p.Leu8777His) c.26318T>A (p.Leu8773His) c.26309T>A (p.Leu8770His) c.26288T>A (p.Leu8763His) c.26279T>A (p.Leu8760His) c.26273T>A (p.Leu8758His) c.26261T>A (p.Leu8754His) c.26258T>A (p.Leu8753His) c.26219T>A (p.Leu8740His) c.26204T>A (p.Leu8735His) c.26189T>A (p.Leu8730His) c.26177T>A (p.Leu8726His) c.26174T>A (p.Leu8725His) c.26171T>A (p.Leu8724His) c.26271T>A (p.Pro8757=) c.26229T>A (p.Pro8743=) c.26160T>A (p.Pro8720=) c.26327T>A (p.Leu8776His) c.26315T>A (p.Leu8772His) c.26165T>A (p.Leu8722His) c.24605T>A (p.Leu8202His) c.24098T>A (p.Leu8033His) c.19565T>A (p.Leu6522His) c.2730T>A (p.Pro910=) c.26303T>A (p.Leu8768His) c.26252T>A (p.Leu8751His) c.26216T>A (p.Leu8739His) c.26063T>A (p.Leu8688His) c.26202T>A (p.Pro8734=) c.26157T>A (p.Pro8719=) c.26145T>A (p.Pro8715=) | |
6 | g.152122648G>A | CA366089210 | ESR1,SYNE1 | c.2716C>T (p.Leu906Phe) c.26182C>T (p.Leu8728Phe) c.26038C>T (p.Leu8680Phe) c.1525C>T c.1900C>T c.1767C>T c.2032C>T (n.2032C>T) c.24967C>T (p.Leu8323Phe) n.2930C>T c.4958C>T (p.Pro1653Leu) n.9874C>T c.4061C>T (p.Pro1354Leu) n.9766C>T c.851-2618G>A (n.851-2618G>A) n.2796C>T n.6819C>T n.2960C>T c.2647C>T (p.Leu883Phe) c.26329C>T (p.Leu8777Phe) c.26317C>T (p.Leu8773Phe) c.26308C>T (p.Leu8770Phe) c.26287C>T (p.Leu8763Phe) c.26278C>T (p.Leu8760Phe) c.26272C>T (p.Leu8758Phe) c.26260C>T (p.Leu8754Phe) c.26257C>T (p.Leu8753Phe) c.26218C>T (p.Leu8740Phe) c.26203C>T (p.Leu8735Phe) c.26188C>T (p.Leu8730Phe) c.26176C>T (p.Leu8726Phe) c.26173C>T (p.Leu8725Phe) c.26170C>T (p.Leu8724Phe) c.26270C>T (p.Pro8757Leu) c.26228C>T (p.Pro8743Leu) c.26159C>T (p.Pro8720Leu) c.26326C>T (p.Leu8776Phe) c.26314C>T (p.Leu8772Phe) c.26164C>T (p.Leu8722Phe) c.24604C>T (p.Leu8202Phe) c.24097C>T (p.Leu8033Phe) c.19564C>T (p.Leu6522Phe) c.2729C>T (p.Pro910Leu) c.26302C>T (p.Leu8768Phe) c.26251C>T (p.Leu8751Phe) c.26215C>T (p.Leu8739Phe) c.26062C>T (p.Leu8688Phe) c.26201C>T (p.Pro8734Leu) c.26156C>T (p.Pro8719Leu) c.26144C>T (p.Pro8715Leu) | |
6 | g.152122648G>C | CA366089211 | ESR1,SYNE1 | c.2716C>G (p.Leu906Val) c.26182C>G (p.Leu8728Val) c.26038C>G (p.Leu8680Val) c.1525C>G c.1900C>G c.1767C>G c.2032C>G (n.2032C>G) c.24967C>G (p.Leu8323Val) n.2930C>G c.4958C>G (p.Pro1653Arg) n.9874C>G c.4061C>G (p.Pro1354Arg) n.9766C>G c.851-2618G>C (n.851-2618G>C) n.2796C>G n.6819C>G n.2960C>G c.2647C>G (p.Leu883Val) c.26329C>G (p.Leu8777Val) c.26317C>G (p.Leu8773Val) c.26308C>G (p.Leu8770Val) c.26287C>G (p.Leu8763Val) c.26278C>G (p.Leu8760Val) c.26272C>G (p.Leu8758Val) c.26260C>G (p.Leu8754Val) c.26257C>G (p.Leu8753Val) c.26218C>G (p.Leu8740Val) c.26203C>G (p.Leu8735Val) c.26188C>G (p.Leu8730Val) c.26176C>G (p.Leu8726Val) c.26173C>G (p.Leu8725Val) c.26170C>G (p.Leu8724Val) c.26270C>G (p.Pro8757Arg) c.26228C>G (p.Pro8743Arg) c.26159C>G (p.Pro8720Arg) c.26326C>G (p.Leu8776Val) c.26314C>G (p.Leu8772Val) c.26164C>G (p.Leu8722Val) c.24604C>G (p.Leu8202Val) c.24097C>G (p.Leu8033Val) c.19564C>G (p.Leu6522Val) c.2729C>G (p.Pro910Arg) c.26302C>G (p.Leu8768Val) c.26251C>G (p.Leu8751Val) c.26215C>G (p.Leu8739Val) c.26062C>G (p.Leu8688Val) c.26201C>G (p.Pro8734Arg) c.26156C>G (p.Pro8719Arg) c.26144C>G (p.Pro8715Arg) | |
6 | g.152122648G>T | CA366089212 | ESR1,SYNE1 | c.2716C>A (p.Leu906Ile) c.26182C>A (p.Leu8728Ile) c.26038C>A (p.Leu8680Ile) c.1525C>A c.1900C>A c.1767C>A c.2032C>A (n.2032C>A) c.24967C>A (p.Leu8323Ile) n.2930C>A c.4958C>A (p.Pro1653His) n.9874C>A c.4061C>A (p.Pro1354His) n.9766C>A c.851-2618G>T (n.851-2618G>T) n.2796C>A n.6819C>A n.2960C>A c.2647C>A (p.Leu883Ile) c.26329C>A (p.Leu8777Ile) c.26317C>A (p.Leu8773Ile) c.26308C>A (p.Leu8770Ile) c.26287C>A (p.Leu8763Ile) c.26278C>A (p.Leu8760Ile) c.26272C>A (p.Leu8758Ile) c.26260C>A (p.Leu8754Ile) c.26257C>A (p.Leu8753Ile) c.26218C>A (p.Leu8740Ile) c.26203C>A (p.Leu8735Ile) c.26188C>A (p.Leu8730Ile) c.26176C>A (p.Leu8726Ile) c.26173C>A (p.Leu8725Ile) c.26170C>A (p.Leu8724Ile) c.26270C>A (p.Pro8757His) c.26228C>A (p.Pro8743His) c.26159C>A (p.Pro8720His) c.26326C>A (p.Leu8776Ile) c.26314C>A (p.Leu8772Ile) c.26164C>A (p.Leu8722Ile) c.24604C>A (p.Leu8202Ile) c.24097C>A (p.Leu8033Ile) c.19564C>A (p.Leu6522Ile) c.2729C>A (p.Pro910His) c.26302C>A (p.Leu8768Ile) c.26251C>A (p.Leu8751Ile) c.26215C>A (p.Leu8739Ile) c.26062C>A (p.Leu8688Ile) c.26201C>A (p.Pro8734His) c.26156C>A (p.Pro8719His) c.26144C>A (p.Pro8715His) | |
6 | g.152122650del | CA645564553 | ESR1,SYNE1 | c.2716del (p.Leu906PhefsTer?) c.26182del (p.Leu8728PhefsTer?) c.26038del (p.Leu8680PhefsTer?) c.1525del c.1900del c.1767del c.2032del (n.2032del) c.24967del (p.Leu8323PhefsTer?) n.2930del c.4958del (p.Pro1653LeufsTer?) n.9874del c.4061del (p.Pro1354LeufsTer?) n.9766del c.851-2616del (n.851-2616del) n.2796del n.6819del n.2960del c.2647del (p.Leu883PhefsTer?) c.26329del (p.Leu8777PhefsTer?) c.26317del (p.Leu8773PhefsTer?) c.26308del (p.Leu8770PhefsTer?) c.26287del (p.Leu8763PhefsTer?) c.26278del (p.Leu8760PhefsTer?) c.26272del (p.Leu8758PhefsTer?) c.26260del (p.Leu8754PhefsTer?) c.26257del (p.Leu8753PhefsTer?) c.26218del (p.Leu8740PhefsTer?) c.26203del (p.Leu8735PhefsTer?) c.26188del (p.Leu8730PhefsTer?) c.26176del (p.Leu8726PhefsTer?) c.26173del (p.Leu8725PhefsTer?) c.26170del (p.Leu8724PhefsTer?) c.26270del (p.Pro8757LeufsTer?) c.26228del (p.Pro8743LeufsTer?) c.26159del (p.Pro8720LeufsTer?) c.26326del (p.Leu8776PhefsTer?) c.26314del (p.Leu8772PhefsTer?) c.26164del (p.Leu8722PhefsTer?) c.24604del (p.Leu8202PhefsTer?) c.24097del (p.Leu8033PhefsTer?) c.19564del (p.Leu6522PhefsTer?) c.2729del (p.Pro910LeufsTer?) c.26302del (p.Leu8768PhefsTer?) c.26251del (p.Leu8751PhefsTer?) c.26215del (p.Leu8739PhefsTer?) c.26062del (p.Leu8688PhefsTer?) c.26201del (p.Pro8734LeufsTer?) c.26156del (p.Pro8719LeufsTer?) c.26144del (p.Pro8715LeufsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122649G>A | CA4052611 | ESR1,SYNE1 | c.2715C>T (p.Ser905=) c.26181C>T (p.Ser8727=) c.26037C>T (p.Ser8679=) c.1524C>T c.1899C>T c.1766C>T c.2031C>T (n.2031C>T) c.24966C>T (p.Ser8322=) n.2929C>T c.4957C>T (p.Pro1653Ser) n.9873C>T c.4060C>T (p.Pro1354Ser) n.9765C>T c.851-2617G>A (n.851-2617G>A) n.2795C>T n.6818C>T n.2959C>T c.2646C>T (p.Ser882=) c.26328C>T (p.Ser8776=) c.26316C>T (p.Ser8772=) c.26307C>T (p.Ser8769=) c.26286C>T (p.Ser8762=) c.26277C>T (p.Ser8759=) c.26271C>T (p.Ser8757=) c.26259C>T (p.Ser8753=) c.26256C>T (p.Ser8752=) c.26217C>T (p.Ser8739=) c.26202C>T (p.Ser8734=) c.26187C>T (p.Ser8729=) c.26175C>T (p.Ser8725=) c.26172C>T (p.Ser8724=) c.26169C>T (p.Ser8723=) c.26269C>T (p.Pro8757Ser) c.26227C>T (p.Pro8743Ser) c.26158C>T (p.Pro8720Ser) c.26325C>T (p.Ser8775=) c.26313C>T (p.Ser8771=) c.26163C>T (p.Ser8721=) c.24603C>T (p.Ser8201=) c.24096C>T (p.Ser8032=) c.19563C>T (p.Ser6521=) c.2728C>T (p.Pro910Ser) c.26301C>T (p.Ser8767=) c.26250C>T (p.Ser8750=) c.26214C>T (p.Ser8738=) c.26061C>T (p.Ser8687=) c.26200C>T (p.Pro8734Ser) c.26155C>T (p.Pro8719Ser) c.26143C>T (p.Pro8715Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122649G>C | CA366089213 | ESR1,SYNE1 | c.2715C>G (p.Ser905=) c.26181C>G (p.Ser8727=) c.26037C>G (p.Ser8679=) c.1524C>G c.1899C>G c.1766C>G c.2031C>G (n.2031C>G) c.24966C>G (p.Ser8322=) n.2929C>G c.4957C>G (p.Pro1653Ala) n.9873C>G c.4060C>G (p.Pro1354Ala) n.9765C>G c.851-2617G>C (n.851-2617G>C) n.2795C>G n.6818C>G n.2959C>G c.2646C>G (p.Ser882=) c.26328C>G (p.Ser8776=) c.26316C>G (p.Ser8772=) c.26307C>G (p.Ser8769=) c.26286C>G (p.Ser8762=) c.26277C>G (p.Ser8759=) c.26271C>G (p.Ser8757=) c.26259C>G (p.Ser8753=) c.26256C>G (p.Ser8752=) c.26217C>G (p.Ser8739=) c.26202C>G (p.Ser8734=) c.26187C>G (p.Ser8729=) c.26175C>G (p.Ser8725=) c.26172C>G (p.Ser8724=) c.26169C>G (p.Ser8723=) c.26269C>G (p.Pro8757Ala) c.26227C>G (p.Pro8743Ala) c.26158C>G (p.Pro8720Ala) c.26325C>G (p.Ser8775=) c.26313C>G (p.Ser8771=) c.26163C>G (p.Ser8721=) c.24603C>G (p.Ser8201=) c.24096C>G (p.Ser8032=) c.19563C>G (p.Ser6521=) c.2728C>G (p.Pro910Ala) c.26301C>G (p.Ser8767=) c.26250C>G (p.Ser8750=) c.26214C>G (p.Ser8738=) c.26061C>G (p.Ser8687=) c.26200C>G (p.Pro8734Ala) c.26155C>G (p.Pro8719Ala) c.26143C>G (p.Pro8715Ala) | |
6 | g.152122649G= | CA1673189246 | ESR1,SYNE1 | c.2715C= (p.Ser905=) c.26181C= (p.Ser8727=) c.26037C= (p.Ser8679=) c.1524C= c.1899C= c.1766C= c.2031C= (n.2031C=) c.24966C= (p.Ser8322=) n.2929C= c.4957C= (p.Pro1653=) n.9873C= c.4060C= (p.Pro1354=) n.9765C= c.851-2617G= (n.851-2617G=) n.2795C= n.6818C= n.2959C= c.2646C= (p.Ser882=) c.26328C= (p.Ser8776=) c.26316C= (p.Ser8772=) c.26307C= (p.Ser8769=) c.26286C= (p.Ser8762=) c.26277C= (p.Ser8759=) c.26271C= (p.Ser8757=) c.26259C= (p.Ser8753=) c.26256C= (p.Ser8752=) c.26217C= (p.Ser8739=) c.26202C= (p.Ser8734=) c.26187C= (p.Ser8729=) c.26175C= (p.Ser8725=) c.26172C= (p.Ser8724=) c.26169C= (p.Ser8723=) c.26269C= (p.Pro8757=) c.26227C= (p.Pro8743=) c.26158C= (p.Pro8720=) c.26325C= (p.Ser8775=) c.26313C= (p.Ser8771=) c.26163C= (p.Ser8721=) c.24603C= (p.Ser8201=) c.24096C= (p.Ser8032=) c.19563C= (p.Ser6521=) c.2728C= (p.Pro910=) c.26301C= (p.Ser8767=) c.26250C= (p.Ser8750=) c.26214C= (p.Ser8738=) c.26061C= (p.Ser8687=) c.26200C= (p.Pro8734=) c.26155C= (p.Pro8719=) c.26143C= (p.Pro8715=) | |
6 | g.152122649G>T | CA366089214 | ESR1,SYNE1 | c.2715C>A (p.Ser905=) c.26181C>A (p.Ser8727=) c.26037C>A (p.Ser8679=) c.1524C>A c.1899C>A c.1766C>A c.2031C>A (n.2031C>A) c.24966C>A (p.Ser8322=) n.2929C>A c.4957C>A (p.Pro1653Thr) n.9873C>A c.4060C>A (p.Pro1354Thr) n.9765C>A c.851-2617G>T (n.851-2617G>T) n.2795C>A n.6818C>A n.2959C>A c.2646C>A (p.Ser882=) c.26328C>A (p.Ser8776=) c.26316C>A (p.Ser8772=) c.26307C>A (p.Ser8769=) c.26286C>A (p.Ser8762=) c.26277C>A (p.Ser8759=) c.26271C>A (p.Ser8757=) c.26259C>A (p.Ser8753=) c.26256C>A (p.Ser8752=) c.26217C>A (p.Ser8739=) c.26202C>A (p.Ser8734=) c.26187C>A (p.Ser8729=) c.26175C>A (p.Ser8725=) c.26172C>A (p.Ser8724=) c.26169C>A (p.Ser8723=) c.26269C>A (p.Pro8757Thr) c.26227C>A (p.Pro8743Thr) c.26158C>A (p.Pro8720Thr) c.26325C>A (p.Ser8775=) c.26313C>A (p.Ser8771=) c.26163C>A (p.Ser8721=) c.24603C>A (p.Ser8201=) c.24096C>A (p.Ser8032=) c.19563C>A (p.Ser6521=) c.2728C>A (p.Pro910Thr) c.26301C>A (p.Ser8767=) c.26250C>A (p.Ser8750=) c.26214C>A (p.Ser8738=) c.26061C>A (p.Ser8687=) c.26200C>A (p.Pro8734Thr) c.26155C>A (p.Pro8719Thr) c.26143C>A (p.Pro8715Thr) | |
6 | g.152122650G>A | CA366089215 | ESR1,SYNE1 | c.2714C>T (p.Ser905Phe) c.26180C>T (p.Ser8727Phe) c.26036C>T (p.Ser8679Phe) c.1523C>T c.1898C>T c.1765C>T c.2030C>T (n.2030C>T) c.24965C>T (p.Ser8322Phe) n.2928C>T c.4956C>T (p.Leu1652=) n.9872C>T c.4059C>T (p.Leu1353=) n.9764C>T c.851-2616G>A (n.851-2616G>A) n.2794C>T n.6817C>T n.2958C>T c.2645C>T (p.Ser882Phe) c.26327C>T (p.Ser8776Phe) c.26315C>T (p.Ser8772Phe) c.26306C>T (p.Ser8769Phe) c.26285C>T (p.Ser8762Phe) c.26276C>T (p.Ser8759Phe) c.26270C>T (p.Ser8757Phe) c.26258C>T (p.Ser8753Phe) c.26255C>T (p.Ser8752Phe) c.26216C>T (p.Ser8739Phe) c.26201C>T (p.Ser8734Phe) c.26186C>T (p.Ser8729Phe) c.26174C>T (p.Ser8725Phe) c.26171C>T (p.Ser8724Phe) c.26168C>T (p.Ser8723Phe) c.26268C>T (p.Leu8756=) c.26226C>T (p.Leu8742=) c.26157C>T (p.Leu8719=) c.26324C>T (p.Ser8775Phe) c.26312C>T (p.Ser8771Phe) c.26162C>T (p.Ser8721Phe) c.24602C>T (p.Ser8201Phe) c.24095C>T (p.Ser8032Phe) c.19562C>T (p.Ser6521Phe) c.2727C>T (p.Leu909=) c.26300C>T (p.Ser8767Phe) c.26249C>T (p.Ser8750Phe) c.26213C>T (p.Ser8738Phe) c.26060C>T (p.Ser8687Phe) c.26199C>T (p.Leu8733=) c.26154C>T (p.Leu8718=) c.26142C>T (p.Leu8714=) | ClinVar dbSNP gnomAD v4 |
6 | g.152122650G>C | CA366089216 | ESR1,SYNE1 | c.2714C>G (p.Ser905Cys) c.26180C>G (p.Ser8727Cys) c.26036C>G (p.Ser8679Cys) c.1523C>G c.1898C>G c.1765C>G c.2030C>G (n.2030C>G) c.24965C>G (p.Ser8322Cys) n.2928C>G c.4956C>G (p.Leu1652=) n.9872C>G c.4059C>G (p.Leu1353=) n.9764C>G c.851-2616G>C (n.851-2616G>C) n.2794C>G n.6817C>G n.2958C>G c.2645C>G (p.Ser882Cys) c.26327C>G (p.Ser8776Cys) c.26315C>G (p.Ser8772Cys) c.26306C>G (p.Ser8769Cys) c.26285C>G (p.Ser8762Cys) c.26276C>G (p.Ser8759Cys) c.26270C>G (p.Ser8757Cys) c.26258C>G (p.Ser8753Cys) c.26255C>G (p.Ser8752Cys) c.26216C>G (p.Ser8739Cys) c.26201C>G (p.Ser8734Cys) c.26186C>G (p.Ser8729Cys) c.26174C>G (p.Ser8725Cys) c.26171C>G (p.Ser8724Cys) c.26168C>G (p.Ser8723Cys) c.26268C>G (p.Leu8756=) c.26226C>G (p.Leu8742=) c.26157C>G (p.Leu8719=) c.26324C>G (p.Ser8775Cys) c.26312C>G (p.Ser8771Cys) c.26162C>G (p.Ser8721Cys) c.24602C>G (p.Ser8201Cys) c.24095C>G (p.Ser8032Cys) c.19562C>G (p.Ser6521Cys) c.2727C>G (p.Leu909=) c.26300C>G (p.Ser8767Cys) c.26249C>G (p.Ser8750Cys) c.26213C>G (p.Ser8738Cys) c.26060C>G (p.Ser8687Cys) c.26199C>G (p.Leu8733=) c.26154C>G (p.Leu8718=) c.26142C>G (p.Leu8714=) | |
6 | g.152122650G= | CA1673189255 | ESR1,SYNE1 | c.2714C= (p.Ser905=) c.26180C= (p.Ser8727=) c.26036C= (p.Ser8679=) c.1523C= c.1898C= c.1765C= c.2030C= (n.2030C=) c.24965C= (p.Ser8322=) n.2928C= c.4956C= (p.Leu1652=) n.9872C= c.4059C= (p.Leu1353=) n.9764C= c.851-2616G= (n.851-2616G=) n.2794C= n.6817C= n.2958C= c.2645C= (p.Ser882=) c.26327C= (p.Ser8776=) c.26315C= (p.Ser8772=) c.26306C= (p.Ser8769=) c.26285C= (p.Ser8762=) c.26276C= (p.Ser8759=) c.26270C= (p.Ser8757=) c.26258C= (p.Ser8753=) c.26255C= (p.Ser8752=) c.26216C= (p.Ser8739=) c.26201C= (p.Ser8734=) c.26186C= (p.Ser8729=) c.26174C= (p.Ser8725=) c.26171C= (p.Ser8724=) c.26168C= (p.Ser8723=) c.26268C= (p.Leu8756=) c.26226C= (p.Leu8742=) c.26157C= (p.Leu8719=) c.26324C= (p.Ser8775=) c.26312C= (p.Ser8771=) c.26162C= (p.Ser8721=) c.24602C= (p.Ser8201=) c.24095C= (p.Ser8032=) c.19562C= (p.Ser6521=) c.2727C= (p.Leu909=) c.26300C= (p.Ser8767=) c.26249C= (p.Ser8750=) c.26213C= (p.Ser8738=) c.26060C= (p.Ser8687=) c.26199C= (p.Leu8733=) c.26154C= (p.Leu8718=) c.26142C= (p.Leu8714=) | |
6 | g.152122650G>T | CA366089217 | ESR1,SYNE1 | c.2714C>A (p.Ser905Tyr) c.26180C>A (p.Ser8727Tyr) c.26036C>A (p.Ser8679Tyr) c.1523C>A c.1898C>A c.1765C>A c.2030C>A (n.2030C>A) c.24965C>A (p.Ser8322Tyr) n.2928C>A c.4956C>A (p.Leu1652=) n.9872C>A c.4059C>A (p.Leu1353=) n.9764C>A c.851-2616G>T (n.851-2616G>T) n.2794C>A n.6817C>A n.2958C>A c.2645C>A (p.Ser882Tyr) c.26327C>A (p.Ser8776Tyr) c.26315C>A (p.Ser8772Tyr) c.26306C>A (p.Ser8769Tyr) c.26285C>A (p.Ser8762Tyr) c.26276C>A (p.Ser8759Tyr) c.26270C>A (p.Ser8757Tyr) c.26258C>A (p.Ser8753Tyr) c.26255C>A (p.Ser8752Tyr) c.26216C>A (p.Ser8739Tyr) c.26201C>A (p.Ser8734Tyr) c.26186C>A (p.Ser8729Tyr) c.26174C>A (p.Ser8725Tyr) c.26171C>A (p.Ser8724Tyr) c.26168C>A (p.Ser8723Tyr) c.26268C>A (p.Leu8756=) c.26226C>A (p.Leu8742=) c.26157C>A (p.Leu8719=) c.26324C>A (p.Ser8775Tyr) c.26312C>A (p.Ser8771Tyr) c.26162C>A (p.Ser8721Tyr) c.24602C>A (p.Ser8201Tyr) c.24095C>A (p.Ser8032Tyr) c.19562C>A (p.Ser6521Tyr) c.2727C>A (p.Leu909=) c.26300C>A (p.Ser8767Tyr) c.26249C>A (p.Ser8750Tyr) c.26213C>A (p.Ser8738Tyr) c.26060C>A (p.Ser8687Tyr) c.26199C>A (p.Leu8733=) c.26154C>A (p.Leu8718=) c.26142C>A (p.Leu8714=) | |
6 | g.152122651A>C | CA366089218 | ESR1,SYNE1 | c.2713T>G (p.Ser905Ala) c.26179T>G (p.Ser8727Ala) c.26035T>G (p.Ser8679Ala) c.1522T>G c.1897T>G c.1764T>G c.2029T>G (n.2029T>G) c.24964T>G (p.Ser8322Ala) n.2927T>G c.4955T>G (p.Leu1652Arg) n.9871T>G c.4058T>G (p.Leu1353Arg) n.9763T>G c.851-2615A>C (n.851-2615A>C) n.2793T>G n.6816T>G n.2957T>G c.2644T>G (p.Ser882Ala) c.26326T>G (p.Ser8776Ala) c.26314T>G (p.Ser8772Ala) c.26305T>G (p.Ser8769Ala) c.26284T>G (p.Ser8762Ala) c.26275T>G (p.Ser8759Ala) c.26269T>G (p.Ser8757Ala) c.26257T>G (p.Ser8753Ala) c.26254T>G (p.Ser8752Ala) c.26215T>G (p.Ser8739Ala) c.26200T>G (p.Ser8734Ala) c.26185T>G (p.Ser8729Ala) c.26173T>G (p.Ser8725Ala) c.26170T>G (p.Ser8724Ala) c.26167T>G (p.Ser8723Ala) c.26267T>G (p.Leu8756Arg) c.26225T>G (p.Leu8742Arg) c.26156T>G (p.Leu8719Arg) c.26323T>G (p.Ser8775Ala) c.26311T>G (p.Ser8771Ala) c.26161T>G (p.Ser8721Ala) c.24601T>G (p.Ser8201Ala) c.24094T>G (p.Ser8032Ala) c.19561T>G (p.Ser6521Ala) c.2726T>G (p.Leu909Arg) c.26299T>G (p.Ser8767Ala) c.26248T>G (p.Ser8750Ala) c.26212T>G (p.Ser8738Ala) c.26059T>G (p.Ser8687Ala) c.26198T>G (p.Leu8733Arg) c.26153T>G (p.Leu8718Arg) c.26141T>G (p.Leu8714Arg) | gnomAD v4 |
6 | g.152122651A>G | CA366089219 | ESR1,SYNE1 | c.2713T>C (p.Ser905Pro) c.26179T>C (p.Ser8727Pro) c.26035T>C (p.Ser8679Pro) c.1522T>C c.1897T>C c.1764T>C c.2029T>C (n.2029T>C) c.24964T>C (p.Ser8322Pro) n.2927T>C c.4955T>C (p.Leu1652Pro) n.9871T>C c.4058T>C (p.Leu1353Pro) n.9763T>C c.851-2615A>G (n.851-2615A>G) n.2793T>C n.6816T>C n.2957T>C c.2644T>C (p.Ser882Pro) c.26326T>C (p.Ser8776Pro) c.26314T>C (p.Ser8772Pro) c.26305T>C (p.Ser8769Pro) c.26284T>C (p.Ser8762Pro) c.26275T>C (p.Ser8759Pro) c.26269T>C (p.Ser8757Pro) c.26257T>C (p.Ser8753Pro) c.26254T>C (p.Ser8752Pro) c.26215T>C (p.Ser8739Pro) c.26200T>C (p.Ser8734Pro) c.26185T>C (p.Ser8729Pro) c.26173T>C (p.Ser8725Pro) c.26170T>C (p.Ser8724Pro) c.26167T>C (p.Ser8723Pro) c.26267T>C (p.Leu8756Pro) c.26225T>C (p.Leu8742Pro) c.26156T>C (p.Leu8719Pro) c.26323T>C (p.Ser8775Pro) c.26311T>C (p.Ser8771Pro) c.26161T>C (p.Ser8721Pro) c.24601T>C (p.Ser8201Pro) c.24094T>C (p.Ser8032Pro) c.19561T>C (p.Ser6521Pro) c.2726T>C (p.Leu909Pro) c.26299T>C (p.Ser8767Pro) c.26248T>C (p.Ser8750Pro) c.26212T>C (p.Ser8738Pro) c.26059T>C (p.Ser8687Pro) c.26198T>C (p.Leu8733Pro) c.26153T>C (p.Leu8718Pro) c.26141T>C (p.Leu8714Pro) | |
6 | g.152122651A>T | CA366089220 | ESR1,SYNE1 | c.2713T>A (p.Ser905Thr) c.26179T>A (p.Ser8727Thr) c.26035T>A (p.Ser8679Thr) c.1522T>A c.1897T>A c.1764T>A c.2029T>A (n.2029T>A) c.24964T>A (p.Ser8322Thr) n.2927T>A c.4955T>A (p.Leu1652His) n.9871T>A c.4058T>A (p.Leu1353His) n.9763T>A c.851-2615A>T (n.851-2615A>T) n.2793T>A n.6816T>A n.2957T>A c.2644T>A (p.Ser882Thr) c.26326T>A (p.Ser8776Thr) c.26314T>A (p.Ser8772Thr) c.26305T>A (p.Ser8769Thr) c.26284T>A (p.Ser8762Thr) c.26275T>A (p.Ser8759Thr) c.26269T>A (p.Ser8757Thr) c.26257T>A (p.Ser8753Thr) c.26254T>A (p.Ser8752Thr) c.26215T>A (p.Ser8739Thr) c.26200T>A (p.Ser8734Thr) c.26185T>A (p.Ser8729Thr) c.26173T>A (p.Ser8725Thr) c.26170T>A (p.Ser8724Thr) c.26167T>A (p.Ser8723Thr) c.26267T>A (p.Leu8756His) c.26225T>A (p.Leu8742His) c.26156T>A (p.Leu8719His) c.26323T>A (p.Ser8775Thr) c.26311T>A (p.Ser8771Thr) c.26161T>A (p.Ser8721Thr) c.24601T>A (p.Ser8201Thr) c.24094T>A (p.Ser8032Thr) c.19561T>A (p.Ser6521Thr) c.2726T>A (p.Leu909His) c.26299T>A (p.Ser8767Thr) c.26248T>A (p.Ser8750Thr) c.26212T>A (p.Ser8738Thr) c.26059T>A (p.Ser8687Thr) c.26198T>A (p.Leu8733His) c.26153T>A (p.Leu8718His) c.26141T>A (p.Leu8714His) | |
6 | g.152122652G>A | CA366089223 | ESR1,SYNE1 | c.2712C>T (p.Ser904=) c.26178C>T (p.Ser8726=) c.26034C>T (p.Ser8678=) c.1521C>T c.1896C>T c.1763C>T c.2028C>T (n.2028C>T) c.24963C>T (p.Ser8321=) n.2926C>T c.4954C>T (p.Leu1652Phe) n.9870C>T c.4057C>T (p.Leu1353Phe) n.9762C>T c.851-2614G>A (n.851-2614G>A) n.2792C>T n.6815C>T n.2956C>T c.2643C>T (p.Ser881=) c.26325C>T (p.Ser8775=) c.26313C>T (p.Ser8771=) c.26304C>T (p.Ser8768=) c.26283C>T (p.Ser8761=) c.26274C>T (p.Ser8758=) c.26268C>T (p.Ser8756=) c.26256C>T (p.Ser8752=) c.26253C>T (p.Ser8751=) c.26214C>T (p.Ser8738=) c.26199C>T (p.Ser8733=) c.26184C>T (p.Ser8728=) c.26172C>T (p.Ser8724=) c.26169C>T (p.Ser8723=) c.26166C>T (p.Ser8722=) c.26266C>T (p.Leu8756Phe) c.26224C>T (p.Leu8742Phe) c.26155C>T (p.Leu8719Phe) c.26322C>T (p.Ser8774=) c.26310C>T (p.Ser8770=) c.26160C>T (p.Ser8720=) c.24600C>T (p.Ser8200=) c.24093C>T (p.Ser8031=) c.19560C>T (p.Ser6520=) c.2725C>T (p.Leu909Phe) c.26298C>T (p.Ser8766=) c.26247C>T (p.Ser8749=) c.26211C>T (p.Ser8737=) c.26058C>T (p.Ser8686=) c.26197C>T (p.Leu8733Phe) c.26152C>T (p.Leu8718Phe) c.26140C>T (p.Leu8714Phe) | gnomAD v4 |
6 | g.152122652G>C | CA366089222 | ESR1,SYNE1 | c.2712C>G (p.Ser904=) c.26178C>G (p.Ser8726=) c.26034C>G (p.Ser8678=) c.1521C>G c.1896C>G c.1763C>G c.2028C>G (n.2028C>G) c.24963C>G (p.Ser8321=) n.2926C>G c.4954C>G (p.Leu1652Val) n.9870C>G c.4057C>G (p.Leu1353Val) n.9762C>G c.851-2614G>C (n.851-2614G>C) n.2792C>G n.6815C>G n.2956C>G c.2643C>G (p.Ser881=) c.26325C>G (p.Ser8775=) c.26313C>G (p.Ser8771=) c.26304C>G (p.Ser8768=) c.26283C>G (p.Ser8761=) c.26274C>G (p.Ser8758=) c.26268C>G (p.Ser8756=) c.26256C>G (p.Ser8752=) c.26253C>G (p.Ser8751=) c.26214C>G (p.Ser8738=) c.26199C>G (p.Ser8733=) c.26184C>G (p.Ser8728=) c.26172C>G (p.Ser8724=) c.26169C>G (p.Ser8723=) c.26166C>G (p.Ser8722=) c.26266C>G (p.Leu8756Val) c.26224C>G (p.Leu8742Val) c.26155C>G (p.Leu8719Val) c.26322C>G (p.Ser8774=) c.26310C>G (p.Ser8770=) c.26160C>G (p.Ser8720=) c.24600C>G (p.Ser8200=) c.24093C>G (p.Ser8031=) c.19560C>G (p.Ser6520=) c.2725C>G (p.Leu909Val) c.26298C>G (p.Ser8766=) c.26247C>G (p.Ser8749=) c.26211C>G (p.Ser8737=) c.26058C>G (p.Ser8686=) c.26197C>G (p.Leu8733Val) c.26152C>G (p.Leu8718Val) c.26140C>G (p.Leu8714Val) | |
6 | g.152122652G>T | CA366089221 | ESR1,SYNE1 | c.2712C>A (p.Ser904=) c.26178C>A (p.Ser8726=) c.26034C>A (p.Ser8678=) c.1521C>A c.1896C>A c.1763C>A c.2028C>A (n.2028C>A) c.24963C>A (p.Ser8321=) n.2926C>A c.4954C>A (p.Leu1652Ile) n.9870C>A c.4057C>A (p.Leu1353Ile) n.9762C>A c.851-2614G>T (n.851-2614G>T) n.2792C>A n.6815C>A n.2956C>A c.2643C>A (p.Ser881=) c.26325C>A (p.Ser8775=) c.26313C>A (p.Ser8771=) c.26304C>A (p.Ser8768=) c.26283C>A (p.Ser8761=) c.26274C>A (p.Ser8758=) c.26268C>A (p.Ser8756=) c.26256C>A (p.Ser8752=) c.26253C>A (p.Ser8751=) c.26214C>A (p.Ser8738=) c.26199C>A (p.Ser8733=) c.26184C>A (p.Ser8728=) c.26172C>A (p.Ser8724=) c.26169C>A (p.Ser8723=) c.26166C>A (p.Ser8722=) c.26266C>A (p.Leu8756Ile) c.26224C>A (p.Leu8742Ile) c.26155C>A (p.Leu8719Ile) c.26322C>A (p.Ser8774=) c.26310C>A (p.Ser8770=) c.26160C>A (p.Ser8720=) c.24600C>A (p.Ser8200=) c.24093C>A (p.Ser8031=) c.19560C>A (p.Ser6520=) c.2725C>A (p.Leu909Ile) c.26298C>A (p.Ser8766=) c.26247C>A (p.Ser8749=) c.26211C>A (p.Ser8737=) c.26058C>A (p.Ser8686=) c.26197C>A (p.Leu8733Ile) c.26152C>A (p.Leu8718Ile) c.26140C>A (p.Leu8714Ile) | |
6 | g.152122653G>A | CA4052612 | ESR1,SYNE1 | c.2711C>T (p.Ser904Phe) c.26177C>T (p.Ser8726Phe) c.26033C>T (p.Ser8678Phe) c.1520C>T c.1895C>T c.1762C>T c.2027C>T (n.2027C>T) c.24962C>T (p.Ser8321Phe) n.2925C>T c.4953C>T (p.Phe1651=) n.9869C>T c.4056C>T (p.Phe1352=) n.9761C>T c.851-2613G>A (n.851-2613G>A) n.2791C>T n.6814C>T n.2955C>T c.2642C>T (p.Ser881Phe) c.26324C>T (p.Ser8775Phe) c.26312C>T (p.Ser8771Phe) c.26303C>T (p.Ser8768Phe) c.26282C>T (p.Ser8761Phe) c.26273C>T (p.Ser8758Phe) c.26267C>T (p.Ser8756Phe) c.26255C>T (p.Ser8752Phe) c.26252C>T (p.Ser8751Phe) c.26213C>T (p.Ser8738Phe) c.26198C>T (p.Ser8733Phe) c.26183C>T (p.Ser8728Phe) c.26171C>T (p.Ser8724Phe) c.26168C>T (p.Ser8723Phe) c.26165C>T (p.Ser8722Phe) c.26265C>T (p.Phe8755=) c.26223C>T (p.Phe8741=) c.26154C>T (p.Phe8718=) c.26321C>T (p.Ser8774Phe) c.26309C>T (p.Ser8770Phe) c.26159C>T (p.Ser8720Phe) c.24599C>T (p.Ser8200Phe) c.24092C>T (p.Ser8031Phe) c.19559C>T (p.Ser6520Phe) c.2724C>T (p.Phe908=) c.26297C>T (p.Ser8766Phe) c.26246C>T (p.Ser8749Phe) c.26210C>T (p.Ser8737Phe) c.26057C>T (p.Ser8686Phe) c.26196C>T (p.Phe8732=) c.26151C>T (p.Phe8717=) c.26139C>T (p.Phe8713=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122653G>C | CA366089224 | ESR1,SYNE1 | c.2711C>G (p.Ser904Cys) c.26177C>G (p.Ser8726Cys) c.26033C>G (p.Ser8678Cys) c.1520C>G c.1895C>G c.1762C>G c.2027C>G (n.2027C>G) c.24962C>G (p.Ser8321Cys) n.2925C>G c.4953C>G (p.Phe1651Leu) n.9869C>G c.4056C>G (p.Phe1352Leu) n.9761C>G c.851-2613G>C (n.851-2613G>C) n.2791C>G n.6814C>G n.2955C>G c.2642C>G (p.Ser881Cys) c.26324C>G (p.Ser8775Cys) c.26312C>G (p.Ser8771Cys) c.26303C>G (p.Ser8768Cys) c.26282C>G (p.Ser8761Cys) c.26273C>G (p.Ser8758Cys) c.26267C>G (p.Ser8756Cys) c.26255C>G (p.Ser8752Cys) c.26252C>G (p.Ser8751Cys) c.26213C>G (p.Ser8738Cys) c.26198C>G (p.Ser8733Cys) c.26183C>G (p.Ser8728Cys) c.26171C>G (p.Ser8724Cys) c.26168C>G (p.Ser8723Cys) c.26165C>G (p.Ser8722Cys) c.26265C>G (p.Phe8755Leu) c.26223C>G (p.Phe8741Leu) c.26154C>G (p.Phe8718Leu) c.26321C>G (p.Ser8774Cys) c.26309C>G (p.Ser8770Cys) c.26159C>G (p.Ser8720Cys) c.24599C>G (p.Ser8200Cys) c.24092C>G (p.Ser8031Cys) c.19559C>G (p.Ser6520Cys) c.2724C>G (p.Phe908Leu) c.26297C>G (p.Ser8766Cys) c.26246C>G (p.Ser8749Cys) c.26210C>G (p.Ser8737Cys) c.26057C>G (p.Ser8686Cys) c.26196C>G (p.Phe8732Leu) c.26151C>G (p.Phe8717Leu) c.26139C>G (p.Phe8713Leu) | gnomAD v4 |
6 | g.152122653G= | CA1673189260 | ESR1,SYNE1 | c.2711C= (p.Ser904=) c.26177C= (p.Ser8726=) c.26033C= (p.Ser8678=) c.1520C= c.1895C= c.1762C= c.2027C= (n.2027C=) c.24962C= (p.Ser8321=) n.2925C= c.4953C= (p.Phe1651=) n.9869C= c.4056C= (p.Phe1352=) n.9761C= c.851-2613G= (n.851-2613G=) n.2791C= n.6814C= n.2955C= c.2642C= (p.Ser881=) c.26324C= (p.Ser8775=) c.26312C= (p.Ser8771=) c.26303C= (p.Ser8768=) c.26282C= (p.Ser8761=) c.26273C= (p.Ser8758=) c.26267C= (p.Ser8756=) c.26255C= (p.Ser8752=) c.26252C= (p.Ser8751=) c.26213C= (p.Ser8738=) c.26198C= (p.Ser8733=) c.26183C= (p.Ser8728=) c.26171C= (p.Ser8724=) c.26168C= (p.Ser8723=) c.26165C= (p.Ser8722=) c.26265C= (p.Phe8755=) c.26223C= (p.Phe8741=) c.26154C= (p.Phe8718=) c.26321C= (p.Ser8774=) c.26309C= (p.Ser8770=) c.26159C= (p.Ser8720=) c.24599C= (p.Ser8200=) c.24092C= (p.Ser8031=) c.19559C= (p.Ser6520=) c.2724C= (p.Phe908=) c.26297C= (p.Ser8766=) c.26246C= (p.Ser8749=) c.26210C= (p.Ser8737=) c.26057C= (p.Ser8686=) c.26196C= (p.Phe8732=) c.26151C= (p.Phe8717=) c.26139C= (p.Phe8713=) | |
6 | g.152122653G>T | CA366089225 | ESR1,SYNE1 | c.2711C>A (p.Ser904Tyr) c.26177C>A (p.Ser8726Tyr) c.26033C>A (p.Ser8678Tyr) c.1520C>A c.1895C>A c.1762C>A c.2027C>A (n.2027C>A) c.24962C>A (p.Ser8321Tyr) n.2925C>A c.4953C>A (p.Phe1651Leu) n.9869C>A c.4056C>A (p.Phe1352Leu) n.9761C>A c.851-2613G>T (n.851-2613G>T) n.2791C>A n.6814C>A n.2955C>A c.2642C>A (p.Ser881Tyr) c.26324C>A (p.Ser8775Tyr) c.26312C>A (p.Ser8771Tyr) c.26303C>A (p.Ser8768Tyr) c.26282C>A (p.Ser8761Tyr) c.26273C>A (p.Ser8758Tyr) c.26267C>A (p.Ser8756Tyr) c.26255C>A (p.Ser8752Tyr) c.26252C>A (p.Ser8751Tyr) c.26213C>A (p.Ser8738Tyr) c.26198C>A (p.Ser8733Tyr) c.26183C>A (p.Ser8728Tyr) c.26171C>A (p.Ser8724Tyr) c.26168C>A (p.Ser8723Tyr) c.26165C>A (p.Ser8722Tyr) c.26265C>A (p.Phe8755Leu) c.26223C>A (p.Phe8741Leu) c.26154C>A (p.Phe8718Leu) c.26321C>A (p.Ser8774Tyr) c.26309C>A (p.Ser8770Tyr) c.26159C>A (p.Ser8720Tyr) c.24599C>A (p.Ser8200Tyr) c.24092C>A (p.Ser8031Tyr) c.19559C>A (p.Ser6520Tyr) c.2724C>A (p.Phe908Leu) c.26297C>A (p.Ser8766Tyr) c.26246C>A (p.Ser8749Tyr) c.26210C>A (p.Ser8737Tyr) c.26057C>A (p.Ser8686Tyr) c.26196C>A (p.Phe8732Leu) c.26151C>A (p.Phe8717Leu) c.26139C>A (p.Phe8713Leu) | |
6 | g.152122654A>C | CA366089226 | ESR1,SYNE1 | c.2710T>G (p.Ser904Ala) c.26176T>G (p.Ser8726Ala) c.26032T>G (p.Ser8678Ala) c.1519T>G c.1894T>G c.1761T>G c.2026T>G (n.2026T>G) c.24961T>G (p.Ser8321Ala) n.2924T>G c.4952T>G (p.Phe1651Cys) n.9868T>G c.4055T>G (p.Phe1352Cys) n.9760T>G c.851-2612A>C (n.851-2612A>C) n.2790T>G n.6813T>G n.2954T>G c.2641T>G (p.Ser881Ala) c.26323T>G (p.Ser8775Ala) c.26311T>G (p.Ser8771Ala) c.26302T>G (p.Ser8768Ala) c.26281T>G (p.Ser8761Ala) c.26272T>G (p.Ser8758Ala) c.26266T>G (p.Ser8756Ala) c.26254T>G (p.Ser8752Ala) c.26251T>G (p.Ser8751Ala) c.26212T>G (p.Ser8738Ala) c.26197T>G (p.Ser8733Ala) c.26182T>G (p.Ser8728Ala) c.26170T>G (p.Ser8724Ala) c.26167T>G (p.Ser8723Ala) c.26164T>G (p.Ser8722Ala) c.26264T>G (p.Phe8755Cys) c.26222T>G (p.Phe8741Cys) c.26153T>G (p.Phe8718Cys) c.26320T>G (p.Ser8774Ala) c.26308T>G (p.Ser8770Ala) c.26158T>G (p.Ser8720Ala) c.24598T>G (p.Ser8200Ala) c.24091T>G (p.Ser8031Ala) c.19558T>G (p.Ser6520Ala) c.2723T>G (p.Phe908Cys) c.26296T>G (p.Ser8766Ala) c.26245T>G (p.Ser8749Ala) c.26209T>G (p.Ser8737Ala) c.26056T>G (p.Ser8686Ala) c.26195T>G (p.Phe8732Cys) c.26150T>G (p.Phe8717Cys) c.26138T>G (p.Phe8713Cys) | |
6 | g.152122654A>G | CA366089227 | ESR1,SYNE1 | c.2710T>C (p.Ser904Pro) c.26176T>C (p.Ser8726Pro) c.26032T>C (p.Ser8678Pro) c.1519T>C c.1894T>C c.1761T>C c.2026T>C (n.2026T>C) c.24961T>C (p.Ser8321Pro) n.2924T>C c.4952T>C (p.Phe1651Ser) n.9868T>C c.4055T>C (p.Phe1352Ser) n.9760T>C c.851-2612A>G (n.851-2612A>G) n.2790T>C n.6813T>C n.2954T>C c.2641T>C (p.Ser881Pro) c.26323T>C (p.Ser8775Pro) c.26311T>C (p.Ser8771Pro) c.26302T>C (p.Ser8768Pro) c.26281T>C (p.Ser8761Pro) c.26272T>C (p.Ser8758Pro) c.26266T>C (p.Ser8756Pro) c.26254T>C (p.Ser8752Pro) c.26251T>C (p.Ser8751Pro) c.26212T>C (p.Ser8738Pro) c.26197T>C (p.Ser8733Pro) c.26182T>C (p.Ser8728Pro) c.26170T>C (p.Ser8724Pro) c.26167T>C (p.Ser8723Pro) c.26164T>C (p.Ser8722Pro) c.26264T>C (p.Phe8755Ser) c.26222T>C (p.Phe8741Ser) c.26153T>C (p.Phe8718Ser) c.26320T>C (p.Ser8774Pro) c.26308T>C (p.Ser8770Pro) c.26158T>C (p.Ser8720Pro) c.24598T>C (p.Ser8200Pro) c.24091T>C (p.Ser8031Pro) c.19558T>C (p.Ser6520Pro) c.2723T>C (p.Phe908Ser) c.26296T>C (p.Ser8766Pro) c.26245T>C (p.Ser8749Pro) c.26209T>C (p.Ser8737Pro) c.26056T>C (p.Ser8686Pro) c.26195T>C (p.Phe8732Ser) c.26150T>C (p.Phe8717Ser) c.26138T>C (p.Phe8713Ser) | |
6 | g.152122654A>T | CA366089228 | ESR1,SYNE1 | c.2710T>A (p.Ser904Thr) c.26176T>A (p.Ser8726Thr) c.26032T>A (p.Ser8678Thr) c.1519T>A c.1894T>A c.1761T>A c.2026T>A (n.2026T>A) c.24961T>A (p.Ser8321Thr) n.2924T>A c.4952T>A (p.Phe1651Tyr) n.9868T>A c.4055T>A (p.Phe1352Tyr) n.9760T>A c.851-2612A>T (n.851-2612A>T) n.2790T>A n.6813T>A n.2954T>A c.2641T>A (p.Ser881Thr) c.26323T>A (p.Ser8775Thr) c.26311T>A (p.Ser8771Thr) c.26302T>A (p.Ser8768Thr) c.26281T>A (p.Ser8761Thr) c.26272T>A (p.Ser8758Thr) c.26266T>A (p.Ser8756Thr) c.26254T>A (p.Ser8752Thr) c.26251T>A (p.Ser8751Thr) c.26212T>A (p.Ser8738Thr) c.26197T>A (p.Ser8733Thr) c.26182T>A (p.Ser8728Thr) c.26170T>A (p.Ser8724Thr) c.26167T>A (p.Ser8723Thr) c.26164T>A (p.Ser8722Thr) c.26264T>A (p.Phe8755Tyr) c.26222T>A (p.Phe8741Tyr) c.26153T>A (p.Phe8718Tyr) c.26320T>A (p.Ser8774Thr) c.26308T>A (p.Ser8770Thr) c.26158T>A (p.Ser8720Thr) c.24598T>A (p.Ser8200Thr) c.24091T>A (p.Ser8031Thr) c.19558T>A (p.Ser6520Thr) c.2723T>A (p.Phe908Tyr) c.26296T>A (p.Ser8766Thr) c.26245T>A (p.Ser8749Thr) c.26209T>A (p.Ser8737Thr) c.26056T>A (p.Ser8686Thr) c.26195T>A (p.Phe8732Tyr) c.26150T>A (p.Phe8717Tyr) c.26138T>A (p.Phe8713Tyr) | |
6 | g.152122655A= | CA1673189264 | ESR1,SYNE1 | c.2709T= (p.Asp903=) c.26175T= (p.Asp8725=) c.26031T= (p.Asp8677=) c.1518T= c.1893T= c.1760T= c.2025T= (n.2025T=) c.24960T= (p.Asp8320=) n.2923T= c.4951T= (p.Phe1651=) n.9867T= c.4054T= (p.Phe1352=) n.9759T= c.851-2611A= (n.851-2611A=) n.2789T= n.6812T= n.2953T= c.2640T= (p.Asp880=) c.26322T= (p.Asp8774=) c.26310T= (p.Asp8770=) c.26301T= (p.Asp8767=) c.26280T= (p.Asp8760=) c.26271T= (p.Asp8757=) c.26265T= (p.Asp8755=) c.26253T= (p.Asp8751=) c.26250T= (p.Asp8750=) c.26211T= (p.Asp8737=) c.26196T= (p.Asp8732=) c.26181T= (p.Asp8727=) c.26169T= (p.Asp8723=) c.26166T= (p.Asp8722=) c.26163T= (p.Asp8721=) c.26263T= (p.Phe8755=) c.26221T= (p.Phe8741=) c.26152T= (p.Phe8718=) c.26319T= (p.Asp8773=) c.26307T= (p.Asp8769=) c.26157T= (p.Asp8719=) c.24597T= (p.Asp8199=) c.24090T= (p.Asp8030=) c.19557T= (p.Asp6519=) c.2722T= (p.Phe908=) c.26295T= (p.Asp8765=) c.26244T= (p.Asp8748=) c.26208T= (p.Asp8736=) c.26055T= (p.Asp8685=) c.26194T= (p.Phe8732=) c.26149T= (p.Phe8717=) c.26137T= (p.Phe8713=) | |
6 | g.152122655A>C | CA366089229 | ESR1,SYNE1 | c.2709T>G (p.Asp903Glu) c.26175T>G (p.Asp8725Glu) c.26031T>G (p.Asp8677Glu) c.1518T>G c.1893T>G c.1760T>G c.2025T>G (n.2025T>G) c.24960T>G (p.Asp8320Glu) n.2923T>G c.4951T>G (p.Phe1651Val) n.9867T>G c.4054T>G (p.Phe1352Val) n.9759T>G c.851-2611A>C (n.851-2611A>C) n.2789T>G n.6812T>G n.2953T>G c.2640T>G (p.Asp880Glu) c.26322T>G (p.Asp8774Glu) c.26310T>G (p.Asp8770Glu) c.26301T>G (p.Asp8767Glu) c.26280T>G (p.Asp8760Glu) c.26271T>G (p.Asp8757Glu) c.26265T>G (p.Asp8755Glu) c.26253T>G (p.Asp8751Glu) c.26250T>G (p.Asp8750Glu) c.26211T>G (p.Asp8737Glu) c.26196T>G (p.Asp8732Glu) c.26181T>G (p.Asp8727Glu) c.26169T>G (p.Asp8723Glu) c.26166T>G (p.Asp8722Glu) c.26163T>G (p.Asp8721Glu) c.26263T>G (p.Phe8755Val) c.26221T>G (p.Phe8741Val) c.26152T>G (p.Phe8718Val) c.26319T>G (p.Asp8773Glu) c.26307T>G (p.Asp8769Glu) c.26157T>G (p.Asp8719Glu) c.24597T>G (p.Asp8199Glu) c.24090T>G (p.Asp8030Glu) c.19557T>G (p.Asp6519Glu) c.2722T>G (p.Phe908Val) c.26295T>G (p.Asp8765Glu) c.26244T>G (p.Asp8748Glu) c.26208T>G (p.Asp8736Glu) c.26055T>G (p.Asp8685Glu) c.26194T>G (p.Phe8732Val) c.26149T>G (p.Phe8717Val) c.26137T>G (p.Phe8713Val) | |
6 | g.152122655A>G | CA366089230 | ESR1,SYNE1 | c.2709T>C (p.Asp903=) c.26175T>C (p.Asp8725=) c.26031T>C (p.Asp8677=) c.1518T>C c.1893T>C c.1760T>C c.2025T>C (n.2025T>C) c.24960T>C (p.Asp8320=) n.2923T>C c.4951T>C (p.Phe1651Leu) n.9867T>C c.4054T>C (p.Phe1352Leu) n.9759T>C c.851-2611A>G (n.851-2611A>G) n.2789T>C n.6812T>C n.2953T>C c.2640T>C (p.Asp880=) c.26322T>C (p.Asp8774=) c.26310T>C (p.Asp8770=) c.26301T>C (p.Asp8767=) c.26280T>C (p.Asp8760=) c.26271T>C (p.Asp8757=) c.26265T>C (p.Asp8755=) c.26253T>C (p.Asp8751=) c.26250T>C (p.Asp8750=) c.26211T>C (p.Asp8737=) c.26196T>C (p.Asp8732=) c.26181T>C (p.Asp8727=) c.26169T>C (p.Asp8723=) c.26166T>C (p.Asp8722=) c.26163T>C (p.Asp8721=) c.26263T>C (p.Phe8755Leu) c.26221T>C (p.Phe8741Leu) c.26152T>C (p.Phe8718Leu) c.26319T>C (p.Asp8773=) c.26307T>C (p.Asp8769=) c.26157T>C (p.Asp8719=) c.24597T>C (p.Asp8199=) c.24090T>C (p.Asp8030=) c.19557T>C (p.Asp6519=) c.2722T>C (p.Phe908Leu) c.26295T>C (p.Asp8765=) c.26244T>C (p.Asp8748=) c.26208T>C (p.Asp8736=) c.26055T>C (p.Asp8685=) c.26194T>C (p.Phe8732Leu) c.26149T>C (p.Phe8717Leu) c.26137T>C (p.Phe8713Leu) | |
6 | g.152122655A>T | CA4052613 | ESR1,SYNE1 | c.2709T>A (p.Asp903Glu) c.26175T>A (p.Asp8725Glu) c.26031T>A (p.Asp8677Glu) c.1518T>A c.1893T>A c.1760T>A c.2025T>A (n.2025T>A) c.24960T>A (p.Asp8320Glu) n.2923T>A c.4951T>A (p.Phe1651Ile) n.9867T>A c.4054T>A (p.Phe1352Ile) n.9759T>A c.851-2611A>T (n.851-2611A>T) n.2789T>A n.6812T>A n.2953T>A c.2640T>A (p.Asp880Glu) c.26322T>A (p.Asp8774Glu) c.26310T>A (p.Asp8770Glu) c.26301T>A (p.Asp8767Glu) c.26280T>A (p.Asp8760Glu) c.26271T>A (p.Asp8757Glu) c.26265T>A (p.Asp8755Glu) c.26253T>A (p.Asp8751Glu) c.26250T>A (p.Asp8750Glu) c.26211T>A (p.Asp8737Glu) c.26196T>A (p.Asp8732Glu) c.26181T>A (p.Asp8727Glu) c.26169T>A (p.Asp8723Glu) c.26166T>A (p.Asp8722Glu) c.26163T>A (p.Asp8721Glu) c.26263T>A (p.Phe8755Ile) c.26221T>A (p.Phe8741Ile) c.26152T>A (p.Phe8718Ile) c.26319T>A (p.Asp8773Glu) c.26307T>A (p.Asp8769Glu) c.26157T>A (p.Asp8719Glu) c.24597T>A (p.Asp8199Glu) c.24090T>A (p.Asp8030Glu) c.19557T>A (p.Asp6519Glu) c.2722T>A (p.Phe908Ile) c.26295T>A (p.Asp8765Glu) c.26244T>A (p.Asp8748Glu) c.26208T>A (p.Asp8736Glu) c.26055T>A (p.Asp8685Glu) c.26194T>A (p.Phe8732Ile) c.26149T>A (p.Phe8717Ile) c.26137T>A (p.Phe8713Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122656T>A | CA366089231 | ESR1,SYNE1 | c.2708A>T (p.Asp903Val) c.26174A>T (p.Asp8725Val) c.26030A>T (p.Asp8677Val) c.1517A>T c.1892A>T c.1759A>T c.2024A>T (n.2024A>T) c.24959A>T (p.Asp8320Val) n.2922A>T c.4950A>T (p.Arg1650=) n.9866A>T c.4053A>T (p.Arg1351=) n.9758A>T c.851-2610T>A (n.851-2610T>A) n.2788A>T n.6811A>T n.2952A>T c.2639A>T (p.Asp880Val) c.26321A>T (p.Asp8774Val) c.26309A>T (p.Asp8770Val) c.26300A>T (p.Asp8767Val) c.26279A>T (p.Asp8760Val) c.26270A>T (p.Asp8757Val) c.26264A>T (p.Asp8755Val) c.26252A>T (p.Asp8751Val) c.26249A>T (p.Asp8750Val) c.26210A>T (p.Asp8737Val) c.26195A>T (p.Asp8732Val) c.26180A>T (p.Asp8727Val) c.26168A>T (p.Asp8723Val) c.26165A>T (p.Asp8722Val) c.26162A>T (p.Asp8721Val) c.26262A>T (p.Arg8754=) c.26220A>T (p.Arg8740=) c.26151A>T (p.Arg8717=) c.26318A>T (p.Asp8773Val) c.26306A>T (p.Asp8769Val) c.26156A>T (p.Asp8719Val) c.24596A>T (p.Asp8199Val) c.24089A>T (p.Asp8030Val) c.19556A>T (p.Asp6519Val) c.2721A>T (p.Arg907=) c.26294A>T (p.Asp8765Val) c.26243A>T (p.Asp8748Val) c.26207A>T (p.Asp8736Val) c.26054A>T (p.Asp8685Val) c.26193A>T (p.Arg8731=) c.26148A>T (p.Arg8716=) c.26136A>T (p.Arg8712=) | dbSNP |
6 | g.152122656T>C | CA366089232 | ESR1,SYNE1 | c.2708A>G (p.Asp903Gly) c.26174A>G (p.Asp8725Gly) c.26030A>G (p.Asp8677Gly) c.1517A>G c.1892A>G c.1759A>G c.2024A>G (n.2024A>G) c.24959A>G (p.Asp8320Gly) n.2922A>G c.4950A>G (p.Arg1650=) n.9866A>G c.4053A>G (p.Arg1351=) n.9758A>G c.851-2610T>C (n.851-2610T>C) n.2788A>G n.6811A>G n.2952A>G c.2639A>G (p.Asp880Gly) c.26321A>G (p.Asp8774Gly) c.26309A>G (p.Asp8770Gly) c.26300A>G (p.Asp8767Gly) c.26279A>G (p.Asp8760Gly) c.26270A>G (p.Asp8757Gly) c.26264A>G (p.Asp8755Gly) c.26252A>G (p.Asp8751Gly) c.26249A>G (p.Asp8750Gly) c.26210A>G (p.Asp8737Gly) c.26195A>G (p.Asp8732Gly) c.26180A>G (p.Asp8727Gly) c.26168A>G (p.Asp8723Gly) c.26165A>G (p.Asp8722Gly) c.26162A>G (p.Asp8721Gly) c.26262A>G (p.Arg8754=) c.26220A>G (p.Arg8740=) c.26151A>G (p.Arg8717=) c.26318A>G (p.Asp8773Gly) c.26306A>G (p.Asp8769Gly) c.26156A>G (p.Asp8719Gly) c.24596A>G (p.Asp8199Gly) c.24089A>G (p.Asp8030Gly) c.19556A>G (p.Asp6519Gly) c.2721A>G (p.Arg907=) c.26294A>G (p.Asp8765Gly) c.26243A>G (p.Asp8748Gly) c.26207A>G (p.Asp8736Gly) c.26054A>G (p.Asp8685Gly) c.26193A>G (p.Arg8731=) c.26148A>G (p.Arg8716=) c.26136A>G (p.Arg8712=) | |
6 | g.152122656T>G | CA366089233 | ESR1,SYNE1 | c.2708A>C (p.Asp903Ala) c.26174A>C (p.Asp8725Ala) c.26030A>C (p.Asp8677Ala) c.1517A>C c.1892A>C c.1759A>C c.2024A>C (n.2024A>C) c.24959A>C (p.Asp8320Ala) n.2922A>C c.4950A>C (p.Arg1650=) n.9866A>C c.4053A>C (p.Arg1351=) n.9758A>C c.851-2610T>G (n.851-2610T>G) n.2788A>C n.6811A>C n.2952A>C c.2639A>C (p.Asp880Ala) c.26321A>C (p.Asp8774Ala) c.26309A>C (p.Asp8770Ala) c.26300A>C (p.Asp8767Ala) c.26279A>C (p.Asp8760Ala) c.26270A>C (p.Asp8757Ala) c.26264A>C (p.Asp8755Ala) c.26252A>C (p.Asp8751Ala) c.26249A>C (p.Asp8750Ala) c.26210A>C (p.Asp8737Ala) c.26195A>C (p.Asp8732Ala) c.26180A>C (p.Asp8727Ala) c.26168A>C (p.Asp8723Ala) c.26165A>C (p.Asp8722Ala) c.26162A>C (p.Asp8721Ala) c.26262A>C (p.Arg8754=) c.26220A>C (p.Arg8740=) c.26151A>C (p.Arg8717=) c.26318A>C (p.Asp8773Ala) c.26306A>C (p.Asp8769Ala) c.26156A>C (p.Asp8719Ala) c.24596A>C (p.Asp8199Ala) c.24089A>C (p.Asp8030Ala) c.19556A>C (p.Asp6519Ala) c.2721A>C (p.Arg907=) c.26294A>C (p.Asp8765Ala) c.26243A>C (p.Asp8748Ala) c.26207A>C (p.Asp8736Ala) c.26054A>C (p.Asp8685Ala) c.26193A>C (p.Arg8731=) c.26148A>C (p.Arg8716=) c.26136A>C (p.Arg8712=) | |
6 | g.152122656T= | CA1673189267 | ESR1,SYNE1 | c.2708A= (p.Asp903=) c.26174A= (p.Asp8725=) c.26030A= (p.Asp8677=) c.1517A= c.1892A= c.1759A= c.2024A= (n.2024A=) c.24959A= (p.Asp8320=) n.2922A= c.4950A= (p.Arg1650=) n.9866A= c.4053A= (p.Arg1351=) n.9758A= c.851-2610T= (n.851-2610T=) n.2788A= n.6811A= n.2952A= c.2639A= (p.Asp880=) c.26321A= (p.Asp8774=) c.26309A= (p.Asp8770=) c.26300A= (p.Asp8767=) c.26279A= (p.Asp8760=) c.26270A= (p.Asp8757=) c.26264A= (p.Asp8755=) c.26252A= (p.Asp8751=) c.26249A= (p.Asp8750=) c.26210A= (p.Asp8737=) c.26195A= (p.Asp8732=) c.26180A= (p.Asp8727=) c.26168A= (p.Asp8723=) c.26165A= (p.Asp8722=) c.26162A= (p.Asp8721=) c.26262A= (p.Arg8754=) c.26220A= (p.Arg8740=) c.26151A= (p.Arg8717=) c.26318A= (p.Asp8773=) c.26306A= (p.Asp8769=) c.26156A= (p.Asp8719=) c.24596A= (p.Asp8199=) c.24089A= (p.Asp8030=) c.19556A= (p.Asp6519=) c.2721A= (p.Arg907=) c.26294A= (p.Asp8765=) c.26243A= (p.Asp8748=) c.26207A= (p.Asp8736=) c.26054A= (p.Asp8685=) c.26193A= (p.Arg8731=) c.26148A= (p.Arg8716=) c.26136A= (p.Arg8712=) | |
6 | g.152122657C>A | CA366089234 | ESR1,SYNE1 | c.2707G>T (p.Asp903Tyr) c.26173G>T (p.Asp8725Tyr) c.26029G>T (p.Asp8677Tyr) c.1516G>T c.1891G>T c.1758G>T c.2023G>T (n.2023G>T) c.24958G>T (p.Asp8320Tyr) n.2921G>T c.4949G>T (p.Arg1650Leu) n.9865G>T c.4052G>T (p.Arg1351Leu) n.9757G>T c.851-2609C>A (n.851-2609C>A) n.2787G>T n.6810G>T n.2951G>T c.2638G>T (p.Asp880Tyr) c.26320G>T (p.Asp8774Tyr) c.26308G>T (p.Asp8770Tyr) c.26299G>T (p.Asp8767Tyr) c.26278G>T (p.Asp8760Tyr) c.26269G>T (p.Asp8757Tyr) c.26263G>T (p.Asp8755Tyr) c.26251G>T (p.Asp8751Tyr) c.26248G>T (p.Asp8750Tyr) c.26209G>T (p.Asp8737Tyr) c.26194G>T (p.Asp8732Tyr) c.26179G>T (p.Asp8727Tyr) c.26167G>T (p.Asp8723Tyr) c.26164G>T (p.Asp8722Tyr) c.26161G>T (p.Asp8721Tyr) c.26261G>T (p.Arg8754Leu) c.26219G>T (p.Arg8740Leu) c.26150G>T (p.Arg8717Leu) c.26317G>T (p.Asp8773Tyr) c.26305G>T (p.Asp8769Tyr) c.26155G>T (p.Asp8719Tyr) c.24595G>T (p.Asp8199Tyr) c.24088G>T (p.Asp8030Tyr) c.19555G>T (p.Asp6519Tyr) c.2720G>T (p.Arg907Leu) c.26293G>T (p.Asp8765Tyr) c.26242G>T (p.Asp8748Tyr) c.26206G>T (p.Asp8736Tyr) c.26053G>T (p.Asp8685Tyr) c.26192G>T (p.Arg8731Leu) c.26147G>T (p.Arg8716Leu) c.26135G>T (p.Arg8712Leu) | |
6 | g.152122657C= | CA1673189276 | ESR1,SYNE1 | c.2707G= (p.Asp903=) c.26173G= (p.Asp8725=) c.26029G= (p.Asp8677=) c.1516G= c.1891G= c.1758G= c.2023G= (n.2023G=) c.24958G= (p.Asp8320=) n.2921G= c.4949G= (p.Arg1650=) n.9865G= c.4052G= (p.Arg1351=) n.9757G= c.851-2609C= (n.851-2609C=) n.2787G= n.6810G= n.2951G= c.2638G= (p.Asp880=) c.26320G= (p.Asp8774=) c.26308G= (p.Asp8770=) c.26299G= (p.Asp8767=) c.26278G= (p.Asp8760=) c.26269G= (p.Asp8757=) c.26263G= (p.Asp8755=) c.26251G= (p.Asp8751=) c.26248G= (p.Asp8750=) c.26209G= (p.Asp8737=) c.26194G= (p.Asp8732=) c.26179G= (p.Asp8727=) c.26167G= (p.Asp8723=) c.26164G= (p.Asp8722=) c.26161G= (p.Asp8721=) c.26261G= (p.Arg8754=) c.26219G= (p.Arg8740=) c.26150G= (p.Arg8717=) c.26317G= (p.Asp8773=) c.26305G= (p.Asp8769=) c.26155G= (p.Asp8719=) c.24595G= (p.Asp8199=) c.24088G= (p.Asp8030=) c.19555G= (p.Asp6519=) c.2720G= (p.Arg907=) c.26293G= (p.Asp8765=) c.26242G= (p.Asp8748=) c.26206G= (p.Asp8736=) c.26053G= (p.Asp8685=) c.26192G= (p.Arg8731=) c.26147G= (p.Arg8716=) c.26135G= (p.Arg8712=) | |
6 | g.152122657C>G | CA366089235 | ESR1,SYNE1 | c.2707G>C (p.Asp903His) c.26173G>C (p.Asp8725His) c.26029G>C (p.Asp8677His) c.1516G>C c.1891G>C c.1758G>C c.2023G>C (n.2023G>C) c.24958G>C (p.Asp8320His) n.2921G>C c.4949G>C (p.Arg1650Pro) n.9865G>C c.4052G>C (p.Arg1351Pro) n.9757G>C c.851-2609C>G (n.851-2609C>G) n.2787G>C n.6810G>C n.2951G>C c.2638G>C (p.Asp880His) c.26320G>C (p.Asp8774His) c.26308G>C (p.Asp8770His) c.26299G>C (p.Asp8767His) c.26278G>C (p.Asp8760His) c.26269G>C (p.Asp8757His) c.26263G>C (p.Asp8755His) c.26251G>C (p.Asp8751His) c.26248G>C (p.Asp8750His) c.26209G>C (p.Asp8737His) c.26194G>C (p.Asp8732His) c.26179G>C (p.Asp8727His) c.26167G>C (p.Asp8723His) c.26164G>C (p.Asp8722His) c.26161G>C (p.Asp8721His) c.26261G>C (p.Arg8754Pro) c.26219G>C (p.Arg8740Pro) c.26150G>C (p.Arg8717Pro) c.26317G>C (p.Asp8773His) c.26305G>C (p.Asp8769His) c.26155G>C (p.Asp8719His) c.24595G>C (p.Asp8199His) c.24088G>C (p.Asp8030His) c.19555G>C (p.Asp6519His) c.2720G>C (p.Arg907Pro) c.26293G>C (p.Asp8765His) c.26242G>C (p.Asp8748His) c.26206G>C (p.Asp8736His) c.26053G>C (p.Asp8685His) c.26192G>C (p.Arg8731Pro) c.26147G>C (p.Arg8716Pro) c.26135G>C (p.Arg8712Pro) | |
6 | g.152122657C>T | CA4052614 | ESR1,SYNE1 | c.2707G>A (p.Asp903Asn) c.26173G>A (p.Asp8725Asn) c.26029G>A (p.Asp8677Asn) c.1516G>A c.1891G>A c.1758G>A c.2023G>A (n.2023G>A) c.24958G>A (p.Asp8320Asn) n.2921G>A c.4949G>A (p.Arg1650Gln) n.9865G>A c.4052G>A (p.Arg1351Gln) n.9757G>A c.851-2609C>T (n.851-2609C>T) n.2787G>A n.6810G>A n.2951G>A c.2638G>A (p.Asp880Asn) c.26320G>A (p.Asp8774Asn) c.26308G>A (p.Asp8770Asn) c.26299G>A (p.Asp8767Asn) c.26278G>A (p.Asp8760Asn) c.26269G>A (p.Asp8757Asn) c.26263G>A (p.Asp8755Asn) c.26251G>A (p.Asp8751Asn) c.26248G>A (p.Asp8750Asn) c.26209G>A (p.Asp8737Asn) c.26194G>A (p.Asp8732Asn) c.26179G>A (p.Asp8727Asn) c.26167G>A (p.Asp8723Asn) c.26164G>A (p.Asp8722Asn) c.26161G>A (p.Asp8721Asn) c.26261G>A (p.Arg8754Gln) c.26219G>A (p.Arg8740Gln) c.26150G>A (p.Arg8717Gln) c.26317G>A (p.Asp8773Asn) c.26305G>A (p.Asp8769Asn) c.26155G>A (p.Asp8719Asn) c.24595G>A (p.Asp8199Asn) c.24088G>A (p.Asp8030Asn) c.19555G>A (p.Asp6519Asn) c.2720G>A (p.Arg907Gln) c.26293G>A (p.Asp8765Asn) c.26242G>A (p.Asp8748Asn) c.26206G>A (p.Asp8736Asn) c.26053G>A (p.Asp8685Asn) c.26192G>A (p.Arg8731Gln) c.26147G>A (p.Arg8716Gln) c.26135G>A (p.Arg8712Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122658G>A | CA4052615 | ESR1,SYNE1 | c.2706C>T (p.Ser902=) c.26172C>T (p.Ser8724=) c.26028C>T (p.Ser8676=) c.1515C>T c.1890C>T c.1757C>T c.2022C>T (n.2022C>T) c.24957C>T (p.Ser8319=) n.2920C>T c.4948C>T (p.Arg1650Ter) n.9864C>T c.4051C>T (p.Arg1351Ter) n.9756C>T c.851-2608G>A (n.851-2608G>A) n.2786C>T n.6809C>T n.2950C>T c.2637C>T (p.Ser879=) c.26319C>T (p.Ser8773=) c.26307C>T (p.Ser8769=) c.26298C>T (p.Ser8766=) c.26277C>T (p.Ser8759=) c.26268C>T (p.Ser8756=) c.26262C>T (p.Ser8754=) c.26250C>T (p.Ser8750=) c.26247C>T (p.Ser8749=) c.26208C>T (p.Ser8736=) c.26193C>T (p.Ser8731=) c.26178C>T (p.Ser8726=) c.26166C>T (p.Ser8722=) c.26163C>T (p.Ser8721=) c.26160C>T (p.Ser8720=) c.26260C>T (p.Arg8754Ter) c.26218C>T (p.Arg8740Ter) c.26149C>T (p.Arg8717Ter) c.26316C>T (p.Ser8772=) c.26304C>T (p.Ser8768=) c.26154C>T (p.Ser8718=) c.24594C>T (p.Ser8198=) c.24087C>T (p.Ser8029=) c.19554C>T (p.Ser6518=) c.2719C>T (p.Arg907Ter) c.26292C>T (p.Ser8764=) c.26241C>T (p.Ser8747=) c.26205C>T (p.Ser8735=) c.26052C>T (p.Ser8684=) c.26191C>T (p.Arg8731Ter) c.26146C>T (p.Arg8716Ter) c.26134C>T (p.Arg8712Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122658G>C | CA366089236 | ESR1,SYNE1 | c.2706C>G (p.Ser902=) c.26172C>G (p.Ser8724=) c.26028C>G (p.Ser8676=) c.1515C>G c.1890C>G c.1757C>G c.2022C>G (n.2022C>G) c.24957C>G (p.Ser8319=) n.2920C>G c.4948C>G (p.Arg1650Gly) n.9864C>G c.4051C>G (p.Arg1351Gly) n.9756C>G c.851-2608G>C (n.851-2608G>C) n.2786C>G n.6809C>G n.2950C>G c.2637C>G (p.Ser879=) c.26319C>G (p.Ser8773=) c.26307C>G (p.Ser8769=) c.26298C>G (p.Ser8766=) c.26277C>G (p.Ser8759=) c.26268C>G (p.Ser8756=) c.26262C>G (p.Ser8754=) c.26250C>G (p.Ser8750=) c.26247C>G (p.Ser8749=) c.26208C>G (p.Ser8736=) c.26193C>G (p.Ser8731=) c.26178C>G (p.Ser8726=) c.26166C>G (p.Ser8722=) c.26163C>G (p.Ser8721=) c.26160C>G (p.Ser8720=) c.26260C>G (p.Arg8754Gly) c.26218C>G (p.Arg8740Gly) c.26149C>G (p.Arg8717Gly) c.26316C>G (p.Ser8772=) c.26304C>G (p.Ser8768=) c.26154C>G (p.Ser8718=) c.24594C>G (p.Ser8198=) c.24087C>G (p.Ser8029=) c.19554C>G (p.Ser6518=) c.2719C>G (p.Arg907Gly) c.26292C>G (p.Ser8764=) c.26241C>G (p.Ser8747=) c.26205C>G (p.Ser8735=) c.26052C>G (p.Ser8684=) c.26191C>G (p.Arg8731Gly) c.26146C>G (p.Arg8716Gly) c.26134C>G (p.Arg8712Gly) | gnomAD v4 |
6 | g.152122658G= | CA1673189282 | ESR1,SYNE1 | c.2706C= (p.Ser902=) c.26172C= (p.Ser8724=) c.26028C= (p.Ser8676=) c.1515C= c.1890C= c.1757C= c.2022C= (n.2022C=) c.24957C= (p.Ser8319=) n.2920C= c.4948C= (p.Arg1650=) n.9864C= c.4051C= (p.Arg1351=) n.9756C= c.851-2608G= (n.851-2608G=) n.2786C= n.6809C= n.2950C= c.2637C= (p.Ser879=) c.26319C= (p.Ser8773=) c.26307C= (p.Ser8769=) c.26298C= (p.Ser8766=) c.26277C= (p.Ser8759=) c.26268C= (p.Ser8756=) c.26262C= (p.Ser8754=) c.26250C= (p.Ser8750=) c.26247C= (p.Ser8749=) c.26208C= (p.Ser8736=) c.26193C= (p.Ser8731=) c.26178C= (p.Ser8726=) c.26166C= (p.Ser8722=) c.26163C= (p.Ser8721=) c.26160C= (p.Ser8720=) c.26260C= (p.Arg8754=) c.26218C= (p.Arg8740=) c.26149C= (p.Arg8717=) c.26316C= (p.Ser8772=) c.26304C= (p.Ser8768=) c.26154C= (p.Ser8718=) c.24594C= (p.Ser8198=) c.24087C= (p.Ser8029=) c.19554C= (p.Ser6518=) c.2719C= (p.Arg907=) c.26292C= (p.Ser8764=) c.26241C= (p.Ser8747=) c.26205C= (p.Ser8735=) c.26052C= (p.Ser8684=) c.26191C= (p.Arg8731=) c.26146C= (p.Arg8716=) c.26134C= (p.Arg8712=) | |
6 | g.152122658G>T | CA452969717 | ESR1,SYNE1 | c.2706C>A (p.Ser902=) c.26172C>A (p.Ser8724=) c.26028C>A (p.Ser8676=) c.1515C>A c.1890C>A c.1757C>A c.2022C>A (n.2022C>A) c.24957C>A (p.Ser8319=) n.2920C>A c.4948C>A (p.Arg1650=) n.9864C>A c.4051C>A (p.Arg1351=) n.9756C>A c.851-2608G>T (n.851-2608G>T) n.2786C>A n.6809C>A n.2950C>A c.2637C>A (p.Ser879=) c.26319C>A (p.Ser8773=) c.26307C>A (p.Ser8769=) c.26298C>A (p.Ser8766=) c.26277C>A (p.Ser8759=) c.26268C>A (p.Ser8756=) c.26262C>A (p.Ser8754=) c.26250C>A (p.Ser8750=) c.26247C>A (p.Ser8749=) c.26208C>A (p.Ser8736=) c.26193C>A (p.Ser8731=) c.26178C>A (p.Ser8726=) c.26166C>A (p.Ser8722=) c.26163C>A (p.Ser8721=) c.26160C>A (p.Ser8720=) c.26260C>A (p.Arg8754=) c.26218C>A (p.Arg8740=) c.26149C>A (p.Arg8717=) c.26316C>A (p.Ser8772=) c.26304C>A (p.Ser8768=) c.26154C>A (p.Ser8718=) c.24594C>A (p.Ser8198=) c.24087C>A (p.Ser8029=) c.19554C>A (p.Ser6518=) c.2719C>A (p.Arg907=) c.26292C>A (p.Ser8764=) c.26241C>A (p.Ser8747=) c.26205C>A (p.Ser8735=) c.26052C>A (p.Ser8684=) c.26191C>A (p.Arg8731=) c.26146C>A (p.Arg8716=) c.26134C>A (p.Arg8712=) | gnomAD v4 |
6 | g.152122659G>A | CA366089237 | ESR1,SYNE1 | c.2705C>T (p.Ser902Phe) c.26171C>T (p.Ser8724Phe) c.26027C>T (p.Ser8676Phe) c.1514C>T c.1889C>T c.1756C>T c.2021C>T (n.2021C>T) c.24956C>T (p.Ser8319Phe) n.2919C>T c.4947C>T (p.Leu1649=) n.9863C>T c.4050C>T (p.Leu1350=) n.9755C>T c.851-2607G>A (n.851-2607G>A) n.2785C>T n.6808C>T n.2949C>T c.2636C>T (p.Ser879Phe) c.26318C>T (p.Ser8773Phe) c.26306C>T (p.Ser8769Phe) c.26297C>T (p.Ser8766Phe) c.26276C>T (p.Ser8759Phe) c.26267C>T (p.Ser8756Phe) c.26261C>T (p.Ser8754Phe) c.26249C>T (p.Ser8750Phe) c.26246C>T (p.Ser8749Phe) c.26207C>T (p.Ser8736Phe) c.26192C>T (p.Ser8731Phe) c.26177C>T (p.Ser8726Phe) c.26165C>T (p.Ser8722Phe) c.26162C>T (p.Ser8721Phe) c.26159C>T (p.Ser8720Phe) c.26259C>T (p.Leu8753=) c.26217C>T (p.Leu8739=) c.26148C>T (p.Leu8716=) c.26315C>T (p.Ser8772Phe) c.26303C>T (p.Ser8768Phe) c.26153C>T (p.Ser8718Phe) c.24593C>T (p.Ser8198Phe) c.24086C>T (p.Ser8029Phe) c.19553C>T (p.Ser6518Phe) c.2718C>T (p.Leu906=) c.26291C>T (p.Ser8764Phe) c.26240C>T (p.Ser8747Phe) c.26204C>T (p.Ser8735Phe) c.26051C>T (p.Ser8684Phe) c.26190C>T (p.Leu8730=) c.26145C>T (p.Leu8715=) c.26133C>T (p.Leu8711=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122659G>C | CA366089238 | ESR1,SYNE1 | c.2705C>G (p.Ser902Cys) c.26171C>G (p.Ser8724Cys) c.26027C>G (p.Ser8676Cys) c.1514C>G c.1889C>G c.1756C>G c.2021C>G (n.2021C>G) c.24956C>G (p.Ser8319Cys) n.2919C>G c.4947C>G (p.Leu1649=) n.9863C>G c.4050C>G (p.Leu1350=) n.9755C>G c.851-2607G>C (n.851-2607G>C) n.2785C>G n.6808C>G n.2949C>G c.2636C>G (p.Ser879Cys) c.26318C>G (p.Ser8773Cys) c.26306C>G (p.Ser8769Cys) c.26297C>G (p.Ser8766Cys) c.26276C>G (p.Ser8759Cys) c.26267C>G (p.Ser8756Cys) c.26261C>G (p.Ser8754Cys) c.26249C>G (p.Ser8750Cys) c.26246C>G (p.Ser8749Cys) c.26207C>G (p.Ser8736Cys) c.26192C>G (p.Ser8731Cys) c.26177C>G (p.Ser8726Cys) c.26165C>G (p.Ser8722Cys) c.26162C>G (p.Ser8721Cys) c.26159C>G (p.Ser8720Cys) c.26259C>G (p.Leu8753=) c.26217C>G (p.Leu8739=) c.26148C>G (p.Leu8716=) c.26315C>G (p.Ser8772Cys) c.26303C>G (p.Ser8768Cys) c.26153C>G (p.Ser8718Cys) c.24593C>G (p.Ser8198Cys) c.24086C>G (p.Ser8029Cys) c.19553C>G (p.Ser6518Cys) c.2718C>G (p.Leu906=) c.26291C>G (p.Ser8764Cys) c.26240C>G (p.Ser8747Cys) c.26204C>G (p.Ser8735Cys) c.26051C>G (p.Ser8684Cys) c.26190C>G (p.Leu8730=) c.26145C>G (p.Leu8715=) c.26133C>G (p.Leu8711=) | |
6 | g.152122659G>T | CA366089239 | ESR1,SYNE1 | c.2705C>A (p.Ser902Tyr) c.26171C>A (p.Ser8724Tyr) c.26027C>A (p.Ser8676Tyr) c.1514C>A c.1889C>A c.1756C>A c.2021C>A (n.2021C>A) c.24956C>A (p.Ser8319Tyr) n.2919C>A c.4947C>A (p.Leu1649=) n.9863C>A c.4050C>A (p.Leu1350=) n.9755C>A c.851-2607G>T (n.851-2607G>T) n.2785C>A n.6808C>A n.2949C>A c.2636C>A (p.Ser879Tyr) c.26318C>A (p.Ser8773Tyr) c.26306C>A (p.Ser8769Tyr) c.26297C>A (p.Ser8766Tyr) c.26276C>A (p.Ser8759Tyr) c.26267C>A (p.Ser8756Tyr) c.26261C>A (p.Ser8754Tyr) c.26249C>A (p.Ser8750Tyr) c.26246C>A (p.Ser8749Tyr) c.26207C>A (p.Ser8736Tyr) c.26192C>A (p.Ser8731Tyr) c.26177C>A (p.Ser8726Tyr) c.26165C>A (p.Ser8722Tyr) c.26162C>A (p.Ser8721Tyr) c.26159C>A (p.Ser8720Tyr) c.26259C>A (p.Leu8753=) c.26217C>A (p.Leu8739=) c.26148C>A (p.Leu8716=) c.26315C>A (p.Ser8772Tyr) c.26303C>A (p.Ser8768Tyr) c.26153C>A (p.Ser8718Tyr) c.24593C>A (p.Ser8198Tyr) c.24086C>A (p.Ser8029Tyr) c.19553C>A (p.Ser6518Tyr) c.2718C>A (p.Leu906=) c.26291C>A (p.Ser8764Tyr) c.26240C>A (p.Ser8747Tyr) c.26204C>A (p.Ser8735Tyr) c.26051C>A (p.Ser8684Tyr) c.26190C>A (p.Leu8730=) c.26145C>A (p.Leu8715=) c.26133C>A (p.Leu8711=) | |
6 | g.152122660A>C | CA366089242 | ESR1,SYNE1 | c.2704T>G (p.Ser902Ala) c.26170T>G (p.Ser8724Ala) c.26026T>G (p.Ser8676Ala) c.1513T>G c.1888T>G c.1755T>G c.2020T>G (n.2020T>G) c.24955T>G (p.Ser8319Ala) n.2918T>G c.4946T>G (p.Leu1649Arg) n.9862T>G c.4049T>G (p.Leu1350Arg) n.9754T>G c.851-2606A>C (n.851-2606A>C) n.2784T>G n.6807T>G n.2948T>G c.2635T>G (p.Ser879Ala) c.26317T>G (p.Ser8773Ala) c.26305T>G (p.Ser8769Ala) c.26296T>G (p.Ser8766Ala) c.26275T>G (p.Ser8759Ala) c.26266T>G (p.Ser8756Ala) c.26260T>G (p.Ser8754Ala) c.26248T>G (p.Ser8750Ala) c.26245T>G (p.Ser8749Ala) c.26206T>G (p.Ser8736Ala) c.26191T>G (p.Ser8731Ala) c.26176T>G (p.Ser8726Ala) c.26164T>G (p.Ser8722Ala) c.26161T>G (p.Ser8721Ala) c.26158T>G (p.Ser8720Ala) c.26258T>G (p.Leu8753Arg) c.26216T>G (p.Leu8739Arg) c.26147T>G (p.Leu8716Arg) c.26314T>G (p.Ser8772Ala) c.26302T>G (p.Ser8768Ala) c.26152T>G (p.Ser8718Ala) c.24592T>G (p.Ser8198Ala) c.24085T>G (p.Ser8029Ala) c.19552T>G (p.Ser6518Ala) c.2717T>G (p.Leu906Arg) c.26290T>G (p.Ser8764Ala) c.26239T>G (p.Ser8747Ala) c.26203T>G (p.Ser8735Ala) c.26050T>G (p.Ser8684Ala) c.26189T>G (p.Leu8730Arg) c.26144T>G (p.Leu8715Arg) c.26132T>G (p.Leu8711Arg) | |
6 | g.152122660A>G | CA366089240 | ESR1,SYNE1 | c.2704T>C (p.Ser902Pro) c.26170T>C (p.Ser8724Pro) c.26026T>C (p.Ser8676Pro) c.1513T>C c.1888T>C c.1755T>C c.2020T>C (n.2020T>C) c.24955T>C (p.Ser8319Pro) n.2918T>C c.4946T>C (p.Leu1649Pro) n.9862T>C c.4049T>C (p.Leu1350Pro) n.9754T>C c.851-2606A>G (n.851-2606A>G) n.2784T>C n.6807T>C n.2948T>C c.2635T>C (p.Ser879Pro) c.26317T>C (p.Ser8773Pro) c.26305T>C (p.Ser8769Pro) c.26296T>C (p.Ser8766Pro) c.26275T>C (p.Ser8759Pro) c.26266T>C (p.Ser8756Pro) c.26260T>C (p.Ser8754Pro) c.26248T>C (p.Ser8750Pro) c.26245T>C (p.Ser8749Pro) c.26206T>C (p.Ser8736Pro) c.26191T>C (p.Ser8731Pro) c.26176T>C (p.Ser8726Pro) c.26164T>C (p.Ser8722Pro) c.26161T>C (p.Ser8721Pro) c.26158T>C (p.Ser8720Pro) c.26258T>C (p.Leu8753Pro) c.26216T>C (p.Leu8739Pro) c.26147T>C (p.Leu8716Pro) c.26314T>C (p.Ser8772Pro) c.26302T>C (p.Ser8768Pro) c.26152T>C (p.Ser8718Pro) c.24592T>C (p.Ser8198Pro) c.24085T>C (p.Ser8029Pro) c.19552T>C (p.Ser6518Pro) c.2717T>C (p.Leu906Pro) c.26290T>C (p.Ser8764Pro) c.26239T>C (p.Ser8747Pro) c.26203T>C (p.Ser8735Pro) c.26050T>C (p.Ser8684Pro) c.26189T>C (p.Leu8730Pro) c.26144T>C (p.Leu8715Pro) c.26132T>C (p.Leu8711Pro) | |
6 | g.152122660A>T | CA366089241 | ESR1,SYNE1 | c.2704T>A (p.Ser902Thr) c.26170T>A (p.Ser8724Thr) c.26026T>A (p.Ser8676Thr) c.1513T>A c.1888T>A c.1755T>A c.2020T>A (n.2020T>A) c.24955T>A (p.Ser8319Thr) n.2918T>A c.4946T>A (p.Leu1649His) n.9862T>A c.4049T>A (p.Leu1350His) n.9754T>A c.851-2606A>T (n.851-2606A>T) n.2784T>A n.6807T>A n.2948T>A c.2635T>A (p.Ser879Thr) c.26317T>A (p.Ser8773Thr) c.26305T>A (p.Ser8769Thr) c.26296T>A (p.Ser8766Thr) c.26275T>A (p.Ser8759Thr) c.26266T>A (p.Ser8756Thr) c.26260T>A (p.Ser8754Thr) c.26248T>A (p.Ser8750Thr) c.26245T>A (p.Ser8749Thr) c.26206T>A (p.Ser8736Thr) c.26191T>A (p.Ser8731Thr) c.26176T>A (p.Ser8726Thr) c.26164T>A (p.Ser8722Thr) c.26161T>A (p.Ser8721Thr) c.26158T>A (p.Ser8720Thr) c.26258T>A (p.Leu8753His) c.26216T>A (p.Leu8739His) c.26147T>A (p.Leu8716His) c.26314T>A (p.Ser8772Thr) c.26302T>A (p.Ser8768Thr) c.26152T>A (p.Ser8718Thr) c.24592T>A (p.Ser8198Thr) c.24085T>A (p.Ser8029Thr) c.19552T>A (p.Ser6518Thr) c.2717T>A (p.Leu906His) c.26290T>A (p.Ser8764Thr) c.26239T>A (p.Ser8747Thr) c.26203T>A (p.Ser8735Thr) c.26050T>A (p.Ser8684Thr) c.26189T>A (p.Leu8730His) c.26144T>A (p.Leu8715His) c.26132T>A (p.Leu8711His) | |
6 | g.152122661G>A | CA366089243 | ESR1,SYNE1 | c.2703C>T (p.Gly901=) c.26169C>T (p.Gly8723=) c.26025C>T (p.Gly8675=) c.1512C>T c.1887C>T c.1754C>T c.2019C>T (n.2019C>T) c.24954C>T (p.Gly8318=) n.2917C>T c.4945C>T (p.Leu1649Phe) n.9861C>T c.4048C>T (p.Leu1350Phe) n.9753C>T c.851-2605G>A (n.851-2605G>A) n.2783C>T n.6806C>T n.2947C>T c.2634C>T (p.Gly878=) c.26316C>T (p.Gly8772=) c.26304C>T (p.Gly8768=) c.26295C>T (p.Gly8765=) c.26274C>T (p.Gly8758=) c.26265C>T (p.Gly8755=) c.26259C>T (p.Gly8753=) c.26247C>T (p.Gly8749=) c.26244C>T (p.Gly8748=) c.26205C>T (p.Gly8735=) c.26190C>T (p.Gly8730=) c.26175C>T (p.Gly8725=) c.26163C>T (p.Gly8721=) c.26160C>T (p.Gly8720=) c.26157C>T (p.Gly8719=) c.26257C>T (p.Leu8753Phe) c.26215C>T (p.Leu8739Phe) c.26146C>T (p.Leu8716Phe) c.26313C>T (p.Gly8771=) c.26301C>T (p.Gly8767=) c.26151C>T (p.Gly8717=) c.24591C>T (p.Gly8197=) c.24084C>T (p.Gly8028=) c.19551C>T (p.Gly6517=) c.2716C>T (p.Leu906Phe) c.26289C>T (p.Gly8763=) c.26238C>T (p.Gly8746=) c.26202C>T (p.Gly8734=) c.26049C>T (p.Gly8683=) c.26188C>T (p.Leu8730Phe) c.26143C>T (p.Leu8715Phe) c.26131C>T (p.Leu8711Phe) | gnomAD v4 |
6 | g.152122661G>C | CA366089244 | ESR1,SYNE1 | c.2703C>G (p.Gly901=) c.26169C>G (p.Gly8723=) c.26025C>G (p.Gly8675=) c.1512C>G c.1887C>G c.1754C>G c.2019C>G (n.2019C>G) c.24954C>G (p.Gly8318=) n.2917C>G c.4945C>G (p.Leu1649Val) n.9861C>G c.4048C>G (p.Leu1350Val) n.9753C>G c.851-2605G>C (n.851-2605G>C) n.2783C>G n.6806C>G n.2947C>G c.2634C>G (p.Gly878=) c.26316C>G (p.Gly8772=) c.26304C>G (p.Gly8768=) c.26295C>G (p.Gly8765=) c.26274C>G (p.Gly8758=) c.26265C>G (p.Gly8755=) c.26259C>G (p.Gly8753=) c.26247C>G (p.Gly8749=) c.26244C>G (p.Gly8748=) c.26205C>G (p.Gly8735=) c.26190C>G (p.Gly8730=) c.26175C>G (p.Gly8725=) c.26163C>G (p.Gly8721=) c.26160C>G (p.Gly8720=) c.26157C>G (p.Gly8719=) c.26257C>G (p.Leu8753Val) c.26215C>G (p.Leu8739Val) c.26146C>G (p.Leu8716Val) c.26313C>G (p.Gly8771=) c.26301C>G (p.Gly8767=) c.26151C>G (p.Gly8717=) c.24591C>G (p.Gly8197=) c.24084C>G (p.Gly8028=) c.19551C>G (p.Gly6517=) c.2716C>G (p.Leu906Val) c.26289C>G (p.Gly8763=) c.26238C>G (p.Gly8746=) c.26202C>G (p.Gly8734=) c.26049C>G (p.Gly8683=) c.26188C>G (p.Leu8730Val) c.26143C>G (p.Leu8715Val) c.26131C>G (p.Leu8711Val) | |
6 | g.152122661G>T | CA366089245 | ESR1,SYNE1 | c.2703C>A (p.Gly901=) c.26169C>A (p.Gly8723=) c.26025C>A (p.Gly8675=) c.1512C>A c.1887C>A c.1754C>A c.2019C>A (n.2019C>A) c.24954C>A (p.Gly8318=) n.2917C>A c.4945C>A (p.Leu1649Ile) n.9861C>A c.4048C>A (p.Leu1350Ile) n.9753C>A c.851-2605G>T (n.851-2605G>T) n.2783C>A n.6806C>A n.2947C>A c.2634C>A (p.Gly878=) c.26316C>A (p.Gly8772=) c.26304C>A (p.Gly8768=) c.26295C>A (p.Gly8765=) c.26274C>A (p.Gly8758=) c.26265C>A (p.Gly8755=) c.26259C>A (p.Gly8753=) c.26247C>A (p.Gly8749=) c.26244C>A (p.Gly8748=) c.26205C>A (p.Gly8735=) c.26190C>A (p.Gly8730=) c.26175C>A (p.Gly8725=) c.26163C>A (p.Gly8721=) c.26160C>A (p.Gly8720=) c.26157C>A (p.Gly8719=) c.26257C>A (p.Leu8753Ile) c.26215C>A (p.Leu8739Ile) c.26146C>A (p.Leu8716Ile) c.26313C>A (p.Gly8771=) c.26301C>A (p.Gly8767=) c.26151C>A (p.Gly8717=) c.24591C>A (p.Gly8197=) c.24084C>A (p.Gly8028=) c.19551C>A (p.Gly6517=) c.2716C>A (p.Leu906Ile) c.26289C>A (p.Gly8763=) c.26238C>A (p.Gly8746=) c.26202C>A (p.Gly8734=) c.26049C>A (p.Gly8683=) c.26188C>A (p.Leu8730Ile) c.26143C>A (p.Leu8715Ile) c.26131C>A (p.Leu8711Ile) | |
6 | g.152122662C>A | CA366089246 | ESR1,SYNE1 | c.2702G>T (p.Gly901Val) c.26168G>T (p.Gly8723Val) c.26024G>T (p.Gly8675Val) c.1511G>T c.1886G>T c.1753G>T c.2018G>T (n.2018G>T) c.24953G>T (p.Gly8318Val) n.2916G>T c.4944G>T (p.Trp1648Cys) n.9860G>T c.4047G>T (p.Trp1349Cys) n.9752G>T c.851-2604C>A (n.851-2604C>A) n.2782G>T n.6805G>T n.2946G>T c.2633G>T (p.Gly878Val) c.26315G>T (p.Gly8772Val) c.26303G>T (p.Gly8768Val) c.26294G>T (p.Gly8765Val) c.26273G>T (p.Gly8758Val) c.26264G>T (p.Gly8755Val) c.26258G>T (p.Gly8753Val) c.26246G>T (p.Gly8749Val) c.26243G>T (p.Gly8748Val) c.26204G>T (p.Gly8735Val) c.26189G>T (p.Gly8730Val) c.26174G>T (p.Gly8725Val) c.26162G>T (p.Gly8721Val) c.26159G>T (p.Gly8720Val) c.26156G>T (p.Gly8719Val) c.26256G>T (p.Trp8752Cys) c.26214G>T (p.Trp8738Cys) c.26145G>T (p.Trp8715Cys) c.26312G>T (p.Gly8771Val) c.26300G>T (p.Gly8767Val) c.26150G>T (p.Gly8717Val) c.24590G>T (p.Gly8197Val) c.24083G>T (p.Gly8028Val) c.19550G>T (p.Gly6517Val) c.2715G>T (p.Trp905Cys) c.26288G>T (p.Gly8763Val) c.26237G>T (p.Gly8746Val) c.26201G>T (p.Gly8734Val) c.26048G>T (p.Gly8683Val) c.26187G>T (p.Trp8729Cys) c.26142G>T (p.Trp8714Cys) c.26130G>T (p.Trp8710Cys) | gnomAD v4 |
6 | g.152122662C>G | CA366089247 | ESR1,SYNE1 | c.2702G>C (p.Gly901Ala) c.26168G>C (p.Gly8723Ala) c.26024G>C (p.Gly8675Ala) c.1511G>C c.1886G>C c.1753G>C c.2018G>C (n.2018G>C) c.24953G>C (p.Gly8318Ala) n.2916G>C c.4944G>C (p.Trp1648Cys) n.9860G>C c.4047G>C (p.Trp1349Cys) n.9752G>C c.851-2604C>G (n.851-2604C>G) n.2782G>C n.6805G>C n.2946G>C c.2633G>C (p.Gly878Ala) c.26315G>C (p.Gly8772Ala) c.26303G>C (p.Gly8768Ala) c.26294G>C (p.Gly8765Ala) c.26273G>C (p.Gly8758Ala) c.26264G>C (p.Gly8755Ala) c.26258G>C (p.Gly8753Ala) c.26246G>C (p.Gly8749Ala) c.26243G>C (p.Gly8748Ala) c.26204G>C (p.Gly8735Ala) c.26189G>C (p.Gly8730Ala) c.26174G>C (p.Gly8725Ala) c.26162G>C (p.Gly8721Ala) c.26159G>C (p.Gly8720Ala) c.26156G>C (p.Gly8719Ala) c.26256G>C (p.Trp8752Cys) c.26214G>C (p.Trp8738Cys) c.26145G>C (p.Trp8715Cys) c.26312G>C (p.Gly8771Ala) c.26300G>C (p.Gly8767Ala) c.26150G>C (p.Gly8717Ala) c.24590G>C (p.Gly8197Ala) c.24083G>C (p.Gly8028Ala) c.19550G>C (p.Gly6517Ala) c.2715G>C (p.Trp905Cys) c.26288G>C (p.Gly8763Ala) c.26237G>C (p.Gly8746Ala) c.26201G>C (p.Gly8734Ala) c.26048G>C (p.Gly8683Ala) c.26187G>C (p.Trp8729Cys) c.26142G>C (p.Trp8714Cys) c.26130G>C (p.Trp8710Cys) | |
6 | g.152122662C>T | CA366089248 | ESR1,SYNE1 | c.2702G>A (p.Gly901Asp) c.26168G>A (p.Gly8723Asp) c.26024G>A (p.Gly8675Asp) c.1511G>A c.1886G>A c.1753G>A c.2018G>A (n.2018G>A) c.24953G>A (p.Gly8318Asp) n.2916G>A c.4944G>A (p.Trp1648Ter) n.9860G>A c.4047G>A (p.Trp1349Ter) n.9752G>A c.851-2604C>T (n.851-2604C>T) n.2782G>A n.6805G>A n.2946G>A c.2633G>A (p.Gly878Asp) c.26315G>A (p.Gly8772Asp) c.26303G>A (p.Gly8768Asp) c.26294G>A (p.Gly8765Asp) c.26273G>A (p.Gly8758Asp) c.26264G>A (p.Gly8755Asp) c.26258G>A (p.Gly8753Asp) c.26246G>A (p.Gly8749Asp) c.26243G>A (p.Gly8748Asp) c.26204G>A (p.Gly8735Asp) c.26189G>A (p.Gly8730Asp) c.26174G>A (p.Gly8725Asp) c.26162G>A (p.Gly8721Asp) c.26159G>A (p.Gly8720Asp) c.26156G>A (p.Gly8719Asp) c.26256G>A (p.Trp8752Ter) c.26214G>A (p.Trp8738Ter) c.26145G>A (p.Trp8715Ter) c.26312G>A (p.Gly8771Asp) c.26300G>A (p.Gly8767Asp) c.26150G>A (p.Gly8717Asp) c.24590G>A (p.Gly8197Asp) c.24083G>A (p.Gly8028Asp) c.19550G>A (p.Gly6517Asp) c.2715G>A (p.Trp905Ter) c.26288G>A (p.Gly8763Asp) c.26237G>A (p.Gly8746Asp) c.26201G>A (p.Gly8734Asp) c.26048G>A (p.Gly8683Asp) c.26187G>A (p.Trp8729Ter) c.26142G>A (p.Trp8714Ter) c.26130G>A (p.Trp8710Ter) | |
6 | g.152122663C>A | CA366089250 | ESR1,SYNE1 | c.2701G>T (p.Gly901Cys) c.26167G>T (p.Gly8723Cys) c.26023G>T (p.Gly8675Cys) c.1510G>T c.1885G>T c.1752G>T c.2017G>T (n.2017G>T) c.24952G>T (p.Gly8318Cys) n.2915G>T c.4943G>T (p.Trp1648Leu) n.9859G>T c.4046G>T (p.Trp1349Leu) n.9751G>T c.851-2603C>A (n.851-2603C>A) n.2781G>T n.6804G>T n.2945G>T c.2632G>T (p.Gly878Cys) c.26314G>T (p.Gly8772Cys) c.26302G>T (p.Gly8768Cys) c.26293G>T (p.Gly8765Cys) c.26272G>T (p.Gly8758Cys) c.26263G>T (p.Gly8755Cys) c.26257G>T (p.Gly8753Cys) c.26245G>T (p.Gly8749Cys) c.26242G>T (p.Gly8748Cys) c.26203G>T (p.Gly8735Cys) c.26188G>T (p.Gly8730Cys) c.26173G>T (p.Gly8725Cys) c.26161G>T (p.Gly8721Cys) c.26158G>T (p.Gly8720Cys) c.26155G>T (p.Gly8719Cys) c.26255G>T (p.Trp8752Leu) c.26213G>T (p.Trp8738Leu) c.26144G>T (p.Trp8715Leu) c.26311G>T (p.Gly8771Cys) c.26299G>T (p.Gly8767Cys) c.26149G>T (p.Gly8717Cys) c.24589G>T (p.Gly8197Cys) c.24082G>T (p.Gly8028Cys) c.19549G>T (p.Gly6517Cys) c.2714G>T (p.Trp905Leu) c.26287G>T (p.Gly8763Cys) c.26236G>T (p.Gly8746Cys) c.26200G>T (p.Gly8734Cys) c.26047G>T (p.Gly8683Cys) c.26186G>T (p.Trp8729Leu) c.26141G>T (p.Trp8714Leu) c.26129G>T (p.Trp8710Leu) | |
6 | g.152122663C>G | CA366089251 | ESR1,SYNE1 | c.2701G>C (p.Gly901Arg) c.26167G>C (p.Gly8723Arg) c.26023G>C (p.Gly8675Arg) c.1510G>C c.1885G>C c.1752G>C c.2017G>C (n.2017G>C) c.24952G>C (p.Gly8318Arg) n.2915G>C c.4943G>C (p.Trp1648Ser) n.9859G>C c.4046G>C (p.Trp1349Ser) n.9751G>C c.851-2603C>G (n.851-2603C>G) n.2781G>C n.6804G>C n.2945G>C c.2632G>C (p.Gly878Arg) c.26314G>C (p.Gly8772Arg) c.26302G>C (p.Gly8768Arg) c.26293G>C (p.Gly8765Arg) c.26272G>C (p.Gly8758Arg) c.26263G>C (p.Gly8755Arg) c.26257G>C (p.Gly8753Arg) c.26245G>C (p.Gly8749Arg) c.26242G>C (p.Gly8748Arg) c.26203G>C (p.Gly8735Arg) c.26188G>C (p.Gly8730Arg) c.26173G>C (p.Gly8725Arg) c.26161G>C (p.Gly8721Arg) c.26158G>C (p.Gly8720Arg) c.26155G>C (p.Gly8719Arg) c.26255G>C (p.Trp8752Ser) c.26213G>C (p.Trp8738Ser) c.26144G>C (p.Trp8715Ser) c.26311G>C (p.Gly8771Arg) c.26299G>C (p.Gly8767Arg) c.26149G>C (p.Gly8717Arg) c.24589G>C (p.Gly8197Arg) c.24082G>C (p.Gly8028Arg) c.19549G>C (p.Gly6517Arg) c.2714G>C (p.Trp905Ser) c.26287G>C (p.Gly8763Arg) c.26236G>C (p.Gly8746Arg) c.26200G>C (p.Gly8734Arg) c.26047G>C (p.Gly8683Arg) c.26186G>C (p.Trp8729Ser) c.26141G>C (p.Trp8714Ser) c.26129G>C (p.Trp8710Ser) | |
6 | g.152122663C>T | CA366089249 | ESR1,SYNE1 | c.2701G>A (p.Gly901Ser) c.26167G>A (p.Gly8723Ser) c.26023G>A (p.Gly8675Ser) c.1510G>A c.1885G>A c.1752G>A c.2017G>A (n.2017G>A) c.24952G>A (p.Gly8318Ser) n.2915G>A c.4943G>A (p.Trp1648Ter) n.9859G>A c.4046G>A (p.Trp1349Ter) n.9751G>A c.851-2603C>T (n.851-2603C>T) n.2781G>A n.6804G>A n.2945G>A c.2632G>A (p.Gly878Ser) c.26314G>A (p.Gly8772Ser) c.26302G>A (p.Gly8768Ser) c.26293G>A (p.Gly8765Ser) c.26272G>A (p.Gly8758Ser) c.26263G>A (p.Gly8755Ser) c.26257G>A (p.Gly8753Ser) c.26245G>A (p.Gly8749Ser) c.26242G>A (p.Gly8748Ser) c.26203G>A (p.Gly8735Ser) c.26188G>A (p.Gly8730Ser) c.26173G>A (p.Gly8725Ser) c.26161G>A (p.Gly8721Ser) c.26158G>A (p.Gly8720Ser) c.26155G>A (p.Gly8719Ser) c.26255G>A (p.Trp8752Ter) c.26213G>A (p.Trp8738Ter) c.26144G>A (p.Trp8715Ter) c.26311G>A (p.Gly8771Ser) c.26299G>A (p.Gly8767Ser) c.26149G>A (p.Gly8717Ser) c.24589G>A (p.Gly8197Ser) c.24082G>A (p.Gly8028Ser) c.19549G>A (p.Gly6517Ser) c.2714G>A (p.Trp905Ter) c.26287G>A (p.Gly8763Ser) c.26236G>A (p.Gly8746Ser) c.26200G>A (p.Gly8734Ser) c.26047G>A (p.Gly8683Ser) c.26186G>A (p.Trp8729Ter) c.26141G>A (p.Trp8714Ter) c.26129G>A (p.Trp8710Ter) | |
6 | g.152122664A= | CA1673189287 | ESR1,SYNE1 | c.2700T= (p.Gly900=) c.26166T= (p.Gly8722=) c.26022T= (p.Gly8674=) c.1509T= c.1884T= c.1751T= c.2016T= (n.2016T=) c.24951T= (p.Gly8317=) n.2914T= c.4942T= (p.Trp1648=) n.9858T= c.4045T= (p.Trp1349=) n.9750T= c.851-2602A= (n.851-2602A=) n.2780T= n.6803T= n.2944T= c.2631T= (p.Gly877=) c.26313T= (p.Gly8771=) c.26301T= (p.Gly8767=) c.26292T= (p.Gly8764=) c.26271T= (p.Gly8757=) c.26262T= (p.Gly8754=) c.26256T= (p.Gly8752=) c.26244T= (p.Gly8748=) c.26241T= (p.Gly8747=) c.26202T= (p.Gly8734=) c.26187T= (p.Gly8729=) c.26172T= (p.Gly8724=) c.26160T= (p.Gly8720=) c.26157T= (p.Gly8719=) c.26154T= (p.Gly8718=) c.26254T= (p.Trp8752=) c.26212T= (p.Trp8738=) c.26143T= (p.Trp8715=) c.26310T= (p.Gly8770=) c.26298T= (p.Gly8766=) c.26148T= (p.Gly8716=) c.24588T= (p.Gly8196=) c.24081T= (p.Gly8027=) c.19548T= (p.Gly6516=) c.2713T= (p.Trp905=) c.26286T= (p.Gly8762=) c.26235T= (p.Gly8745=) c.26199T= (p.Gly8733=) c.26046T= (p.Gly8682=) c.26185T= (p.Trp8729=) c.26140T= (p.Trp8714=) c.26128T= (p.Trp8710=) | |
6 | g.152122664A>C | CA4052616 | ESR1,SYNE1 | c.2700T>G (p.Gly900=) c.26166T>G (p.Gly8722=) c.26022T>G (p.Gly8674=) c.1509T>G c.1884T>G c.1751T>G c.2016T>G (n.2016T>G) c.24951T>G (p.Gly8317=) n.2914T>G c.4942T>G (p.Trp1648Gly) n.9858T>G c.4045T>G (p.Trp1349Gly) n.9750T>G c.851-2602A>C (n.851-2602A>C) n.2780T>G n.6803T>G n.2944T>G c.2631T>G (p.Gly877=) c.26313T>G (p.Gly8771=) c.26301T>G (p.Gly8767=) c.26292T>G (p.Gly8764=) c.26271T>G (p.Gly8757=) c.26262T>G (p.Gly8754=) c.26256T>G (p.Gly8752=) c.26244T>G (p.Gly8748=) c.26241T>G (p.Gly8747=) c.26202T>G (p.Gly8734=) c.26187T>G (p.Gly8729=) c.26172T>G (p.Gly8724=) c.26160T>G (p.Gly8720=) c.26157T>G (p.Gly8719=) c.26154T>G (p.Gly8718=) c.26254T>G (p.Trp8752Gly) c.26212T>G (p.Trp8738Gly) c.26143T>G (p.Trp8715Gly) c.26310T>G (p.Gly8770=) c.26298T>G (p.Gly8766=) c.26148T>G (p.Gly8716=) c.24588T>G (p.Gly8196=) c.24081T>G (p.Gly8027=) c.19548T>G (p.Gly6516=) c.2713T>G (p.Trp905Gly) c.26286T>G (p.Gly8762=) c.26235T>G (p.Gly8745=) c.26199T>G (p.Gly8733=) c.26046T>G (p.Gly8682=) c.26185T>G (p.Trp8729Gly) c.26140T>G (p.Trp8714Gly) c.26128T>G (p.Trp8710Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122664A>G | CA366089252 | ESR1,SYNE1 | c.2700T>C (p.Gly900=) c.26166T>C (p.Gly8722=) c.26022T>C (p.Gly8674=) c.1509T>C c.1884T>C c.1751T>C c.2016T>C (n.2016T>C) c.24951T>C (p.Gly8317=) n.2914T>C c.4942T>C (p.Trp1648Arg) n.9858T>C c.4045T>C (p.Trp1349Arg) n.9750T>C c.851-2602A>G (n.851-2602A>G) n.2780T>C n.6803T>C n.2944T>C c.2631T>C (p.Gly877=) c.26313T>C (p.Gly8771=) c.26301T>C (p.Gly8767=) c.26292T>C (p.Gly8764=) c.26271T>C (p.Gly8757=) c.26262T>C (p.Gly8754=) c.26256T>C (p.Gly8752=) c.26244T>C (p.Gly8748=) c.26241T>C (p.Gly8747=) c.26202T>C (p.Gly8734=) c.26187T>C (p.Gly8729=) c.26172T>C (p.Gly8724=) c.26160T>C (p.Gly8720=) c.26157T>C (p.Gly8719=) c.26154T>C (p.Gly8718=) c.26254T>C (p.Trp8752Arg) c.26212T>C (p.Trp8738Arg) c.26143T>C (p.Trp8715Arg) c.26310T>C (p.Gly8770=) c.26298T>C (p.Gly8766=) c.26148T>C (p.Gly8716=) c.24588T>C (p.Gly8196=) c.24081T>C (p.Gly8027=) c.19548T>C (p.Gly6516=) c.2713T>C (p.Trp905Arg) c.26286T>C (p.Gly8762=) c.26235T>C (p.Gly8745=) c.26199T>C (p.Gly8733=) c.26046T>C (p.Gly8682=) c.26185T>C (p.Trp8729Arg) c.26140T>C (p.Trp8714Arg) c.26128T>C (p.Trp8710Arg) | |
6 | g.152122664A>T | CA366089253 | ESR1,SYNE1 | c.2700T>A (p.Gly900=) c.26166T>A (p.Gly8722=) c.26022T>A (p.Gly8674=) c.1509T>A c.1884T>A c.1751T>A c.2016T>A (n.2016T>A) c.24951T>A (p.Gly8317=) n.2914T>A c.4942T>A (p.Trp1648Arg) n.9858T>A c.4045T>A (p.Trp1349Arg) n.9750T>A c.851-2602A>T (n.851-2602A>T) n.2780T>A n.6803T>A n.2944T>A c.2631T>A (p.Gly877=) c.26313T>A (p.Gly8771=) c.26301T>A (p.Gly8767=) c.26292T>A (p.Gly8764=) c.26271T>A (p.Gly8757=) c.26262T>A (p.Gly8754=) c.26256T>A (p.Gly8752=) c.26244T>A (p.Gly8748=) c.26241T>A (p.Gly8747=) c.26202T>A (p.Gly8734=) c.26187T>A (p.Gly8729=) c.26172T>A (p.Gly8724=) c.26160T>A (p.Gly8720=) c.26157T>A (p.Gly8719=) c.26154T>A (p.Gly8718=) c.26254T>A (p.Trp8752Arg) c.26212T>A (p.Trp8738Arg) c.26143T>A (p.Trp8715Arg) c.26310T>A (p.Gly8770=) c.26298T>A (p.Gly8766=) c.26148T>A (p.Gly8716=) c.24588T>A (p.Gly8196=) c.24081T>A (p.Gly8027=) c.19548T>A (p.Gly6516=) c.2713T>A (p.Trp905Arg) c.26286T>A (p.Gly8762=) c.26235T>A (p.Gly8745=) c.26199T>A (p.Gly8733=) c.26046T>A (p.Gly8682=) c.26185T>A (p.Trp8729Arg) c.26140T>A (p.Trp8714Arg) c.26128T>A (p.Trp8710Arg) | |
6 | g.152122664_152122665delinsAC | CA1673189289 | ESR1,SYNE1 | c.2699_2700delinsGT (p.Gly900=) c.26165_26166delinsGT (p.Gly8722=) c.26021_26022delinsGT (p.Gly8674=) c.1508_1509delinsGT c.1883_1884delinsGT c.1750_1751delinsGT c.2015_2016delinsGT (n.2015_2016delinsGT) c.24950_24951delinsGT (p.Gly8317=) n.2913_2914delinsGT c.4941_4942delinsGT (p.Arg1647=) n.9857_9858delinsGT c.4044_4045delinsGT (p.Arg1348=) n.9749_9750delinsGT c.851-2602_851-2601delinsAC (n.851-2602_851-2601delinsAC) n.2779_2780delinsGT n.6802_6803delinsGT n.2943_2944delinsGT c.2630_2631delinsGT (p.Gly877=) c.26312_26313delinsGT (p.Gly8771=) c.26300_26301delinsGT (p.Gly8767=) c.26291_26292delinsGT (p.Gly8764=) c.26270_26271delinsGT (p.Gly8757=) c.26261_26262delinsGT (p.Gly8754=) c.26255_26256delinsGT (p.Gly8752=) c.26243_26244delinsGT (p.Gly8748=) c.26240_26241delinsGT (p.Gly8747=) c.26201_26202delinsGT (p.Gly8734=) c.26186_26187delinsGT (p.Gly8729=) c.26171_26172delinsGT (p.Gly8724=) c.26159_26160delinsGT (p.Gly8720=) c.26156_26157delinsGT (p.Gly8719=) c.26153_26154delinsGT (p.Gly8718=) c.26253_26254delinsGT (p.Arg8751=) c.26211_26212delinsGT (p.Arg8737=) c.26142_26143delinsGT (p.Arg8714=) c.26309_26310delinsGT (p.Gly8770=) c.26297_26298delinsGT (p.Gly8766=) c.26147_26148delinsGT (p.Gly8716=) c.24587_24588delinsGT (p.Gly8196=) c.24080_24081delinsGT (p.Gly8027=) c.19547_19548delinsGT (p.Gly6516=) c.2712_2713delinsGT (p.Arg904=) c.26285_26286delinsGT (p.Gly8762=) c.26234_26235delinsGT (p.Gly8745=) c.26198_26199delinsGT (p.Gly8733=) c.26045_26046delinsGT (p.Gly8682=) c.26184_26185delinsGT (p.Arg8728=) c.26139_26140delinsGT (p.Arg8713=) c.26127_26128delinsGT (p.Arg8709=) | |
6 | g.152122665C>A | CA366089254 | ESR1,SYNE1 | c.2699G>T (p.Gly900Val) c.26165G>T (p.Gly8722Val) c.26021G>T (p.Gly8674Val) c.1508G>T c.1883G>T c.1750G>T c.2015G>T (n.2015G>T) c.24950G>T (p.Gly8317Val) n.2913G>T c.4941G>T (p.Arg1647Ser) n.9857G>T c.4044G>T (p.Arg1348Ser) n.9749G>T c.851-2601C>A (n.851-2601C>A) n.2779G>T n.6802G>T n.2943G>T c.2630G>T (p.Gly877Val) c.26312G>T (p.Gly8771Val) c.26300G>T (p.Gly8767Val) c.26291G>T (p.Gly8764Val) c.26270G>T (p.Gly8757Val) c.26261G>T (p.Gly8754Val) c.26255G>T (p.Gly8752Val) c.26243G>T (p.Gly8748Val) c.26240G>T (p.Gly8747Val) c.26201G>T (p.Gly8734Val) c.26186G>T (p.Gly8729Val) c.26171G>T (p.Gly8724Val) c.26159G>T (p.Gly8720Val) c.26156G>T (p.Gly8719Val) c.26153G>T (p.Gly8718Val) c.26253G>T (p.Arg8751Ser) c.26211G>T (p.Arg8737Ser) c.26142G>T (p.Arg8714Ser) c.26309G>T (p.Gly8770Val) c.26297G>T (p.Gly8766Val) c.26147G>T (p.Gly8716Val) c.24587G>T (p.Gly8196Val) c.24080G>T (p.Gly8027Val) c.19547G>T (p.Gly6516Val) c.2712G>T (p.Arg904Ser) c.26285G>T (p.Gly8762Val) c.26234G>T (p.Gly8745Val) c.26198G>T (p.Gly8733Val) c.26045G>T (p.Gly8682Val) c.26184G>T (p.Arg8728Ser) c.26139G>T (p.Arg8713Ser) c.26127G>T (p.Arg8709Ser) | |
6 | g.152122665C>G | CA366089256 | ESR1,SYNE1 | c.2699G>C (p.Gly900Ala) c.26165G>C (p.Gly8722Ala) c.26021G>C (p.Gly8674Ala) c.1508G>C c.1883G>C c.1750G>C c.2015G>C (n.2015G>C) c.24950G>C (p.Gly8317Ala) n.2913G>C c.4941G>C (p.Arg1647Ser) n.9857G>C c.4044G>C (p.Arg1348Ser) n.9749G>C c.851-2601C>G (n.851-2601C>G) n.2779G>C n.6802G>C n.2943G>C c.2630G>C (p.Gly877Ala) c.26312G>C (p.Gly8771Ala) c.26300G>C (p.Gly8767Ala) c.26291G>C (p.Gly8764Ala) c.26270G>C (p.Gly8757Ala) c.26261G>C (p.Gly8754Ala) c.26255G>C (p.Gly8752Ala) c.26243G>C (p.Gly8748Ala) c.26240G>C (p.Gly8747Ala) c.26201G>C (p.Gly8734Ala) c.26186G>C (p.Gly8729Ala) c.26171G>C (p.Gly8724Ala) c.26159G>C (p.Gly8720Ala) c.26156G>C (p.Gly8719Ala) c.26153G>C (p.Gly8718Ala) c.26253G>C (p.Arg8751Ser) c.26211G>C (p.Arg8737Ser) c.26142G>C (p.Arg8714Ser) c.26309G>C (p.Gly8770Ala) c.26297G>C (p.Gly8766Ala) c.26147G>C (p.Gly8716Ala) c.24587G>C (p.Gly8196Ala) c.24080G>C (p.Gly8027Ala) c.19547G>C (p.Gly6516Ala) c.2712G>C (p.Arg904Ser) c.26285G>C (p.Gly8762Ala) c.26234G>C (p.Gly8745Ala) c.26198G>C (p.Gly8733Ala) c.26045G>C (p.Gly8682Ala) c.26184G>C (p.Arg8728Ser) c.26139G>C (p.Arg8713Ser) c.26127G>C (p.Arg8709Ser) | |
6 | g.152122665C>T | CA366089255 | ESR1,SYNE1 | c.2699G>A (p.Gly900Asp) c.26165G>A (p.Gly8722Asp) c.26021G>A (p.Gly8674Asp) c.1508G>A c.1883G>A c.1750G>A c.2015G>A (n.2015G>A) c.24950G>A (p.Gly8317Asp) n.2913G>A c.4941G>A (p.Arg1647=) n.9857G>A c.4044G>A (p.Arg1348=) n.9749G>A c.851-2601C>T (n.851-2601C>T) n.2779G>A n.6802G>A n.2943G>A c.2630G>A (p.Gly877Asp) c.26312G>A (p.Gly8771Asp) c.26300G>A (p.Gly8767Asp) c.26291G>A (p.Gly8764Asp) c.26270G>A (p.Gly8757Asp) c.26261G>A (p.Gly8754Asp) c.26255G>A (p.Gly8752Asp) c.26243G>A (p.Gly8748Asp) c.26240G>A (p.Gly8747Asp) c.26201G>A (p.Gly8734Asp) c.26186G>A (p.Gly8729Asp) c.26171G>A (p.Gly8724Asp) c.26159G>A (p.Gly8720Asp) c.26156G>A (p.Gly8719Asp) c.26153G>A (p.Gly8718Asp) c.26253G>A (p.Arg8751=) c.26211G>A (p.Arg8737=) c.26142G>A (p.Arg8714=) c.26309G>A (p.Gly8770Asp) c.26297G>A (p.Gly8766Asp) c.26147G>A (p.Gly8716Asp) c.24587G>A (p.Gly8196Asp) c.24080G>A (p.Gly8027Asp) c.19547G>A (p.Gly6516Asp) c.2712G>A (p.Arg904=) c.26285G>A (p.Gly8762Asp) c.26234G>A (p.Gly8745Asp) c.26198G>A (p.Gly8733Asp) c.26045G>A (p.Gly8682Asp) c.26184G>A (p.Arg8728=) c.26139G>A (p.Arg8713=) c.26127G>A (p.Arg8709=) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122666del | CA1673189299 | ESR1,SYNE1 | c.2699del (p.Gly900ValfsTer?) c.26165del (p.Gly8722ValfsTer?) c.26021del (p.Gly8674ValfsTer?) c.1508del c.1883del c.1750del c.2015del (n.2015del) c.24950del (p.Gly8317ValfsTer?) n.2913del c.4941del (p.Arg1647SerfsTer?) n.9857del c.4044del (p.Arg1348SerfsTer?) n.9749del c.851-2600del (n.851-2600del) n.2779del n.6802del n.2943del c.2630del (p.Gly877ValfsTer?) c.26312del (p.Gly8771ValfsTer?) c.26300del (p.Gly8767ValfsTer?) c.26291del (p.Gly8764ValfsTer?) c.26270del (p.Gly8757ValfsTer?) c.26261del (p.Gly8754ValfsTer?) c.26255del (p.Gly8752ValfsTer?) c.26243del (p.Gly8748ValfsTer?) c.26240del (p.Gly8747ValfsTer?) c.26201del (p.Gly8734ValfsTer?) c.26186del (p.Gly8729ValfsTer?) c.26171del (p.Gly8724ValfsTer?) c.26159del (p.Gly8720ValfsTer?) c.26156del (p.Gly8719ValfsTer?) c.26153del (p.Gly8718ValfsTer?) c.26253del (p.Arg8751SerfsTer?) c.26211del (p.Arg8737SerfsTer?) c.26142del (p.Arg8714SerfsTer?) c.26309del (p.Gly8770ValfsTer?) c.26297del (p.Gly8766ValfsTer?) c.26147del (p.Gly8716ValfsTer?) c.24587del (p.Gly8196ValfsTer?) c.24080del (p.Gly8027ValfsTer?) c.19547del (p.Gly6516ValfsTer?) c.2712del (p.Arg904SerfsTer?) c.26285del (p.Gly8762ValfsTer?) c.26234del (p.Gly8745ValfsTer?) c.26198del (p.Gly8733ValfsTer?) c.26045del (p.Gly8682ValfsTer?) c.26184del (p.Arg8728SerfsTer?) c.26139del (p.Arg8713SerfsTer?) c.26127del (p.Arg8709SerfsTer?) | dbSNP |
6 | g.152122666C>A | CA366089257 | ESR1,SYNE1 | c.2698G>T (p.Gly900Cys) c.26164G>T (p.Gly8722Cys) c.26020G>T (p.Gly8674Cys) c.1507G>T c.1882G>T c.1749G>T c.2014G>T (n.2014G>T) c.24949G>T (p.Gly8317Cys) n.2912G>T c.4940G>T (p.Arg1647Met) n.9856G>T c.4043G>T (p.Arg1348Met) n.9748G>T c.851-2600C>A (n.851-2600C>A) n.2778G>T n.6801G>T n.2942G>T c.2629G>T (p.Gly877Cys) c.26311G>T (p.Gly8771Cys) c.26299G>T (p.Gly8767Cys) c.26290G>T (p.Gly8764Cys) c.26269G>T (p.Gly8757Cys) c.26260G>T (p.Gly8754Cys) c.26254G>T (p.Gly8752Cys) c.26242G>T (p.Gly8748Cys) c.26239G>T (p.Gly8747Cys) c.26200G>T (p.Gly8734Cys) c.26185G>T (p.Gly8729Cys) c.26170G>T (p.Gly8724Cys) c.26158G>T (p.Gly8720Cys) c.26155G>T (p.Gly8719Cys) c.26152G>T (p.Gly8718Cys) c.26252G>T (p.Arg8751Met) c.26210G>T (p.Arg8737Met) c.26141G>T (p.Arg8714Met) c.26308G>T (p.Gly8770Cys) c.26296G>T (p.Gly8766Cys) c.26146G>T (p.Gly8716Cys) c.24586G>T (p.Gly8196Cys) c.24079G>T (p.Gly8027Cys) c.19546G>T (p.Gly6516Cys) c.2711G>T (p.Arg904Met) c.26284G>T (p.Gly8762Cys) c.26233G>T (p.Gly8745Cys) c.26197G>T (p.Gly8733Cys) c.26044G>T (p.Gly8682Cys) c.26183G>T (p.Arg8728Met) c.26138G>T (p.Arg8713Met) c.26126G>T (p.Arg8709Met) | |
6 | g.152122666C= | CA1673189307 | ESR1,SYNE1 | c.2698G= (p.Gly900=) c.26164G= (p.Gly8722=) c.26020G= (p.Gly8674=) c.1507G= c.1882G= c.1749G= c.2014G= (n.2014G=) c.24949G= (p.Gly8317=) n.2912G= c.4940G= (p.Arg1647=) n.9856G= c.4043G= (p.Arg1348=) n.9748G= c.851-2600C= (n.851-2600C=) n.2778G= n.6801G= n.2942G= c.2629G= (p.Gly877=) c.26311G= (p.Gly8771=) c.26299G= (p.Gly8767=) c.26290G= (p.Gly8764=) c.26269G= (p.Gly8757=) c.26260G= (p.Gly8754=) c.26254G= (p.Gly8752=) c.26242G= (p.Gly8748=) c.26239G= (p.Gly8747=) c.26200G= (p.Gly8734=) c.26185G= (p.Gly8729=) c.26170G= (p.Gly8724=) c.26158G= (p.Gly8720=) c.26155G= (p.Gly8719=) c.26152G= (p.Gly8718=) c.26252G= (p.Arg8751=) c.26210G= (p.Arg8737=) c.26141G= (p.Arg8714=) c.26308G= (p.Gly8770=) c.26296G= (p.Gly8766=) c.26146G= (p.Gly8716=) c.24586G= (p.Gly8196=) c.24079G= (p.Gly8027=) c.19546G= (p.Gly6516=) c.2711G= (p.Arg904=) c.26284G= (p.Gly8762=) c.26233G= (p.Gly8745=) c.26197G= (p.Gly8733=) c.26044G= (p.Gly8682=) c.26183G= (p.Arg8728=) c.26138G= (p.Arg8713=) c.26126G= (p.Arg8709=) | |
6 | g.152122666C>G | CA366089259 | ESR1,SYNE1 | c.2698G>C (p.Gly900Arg) c.26164G>C (p.Gly8722Arg) c.26020G>C (p.Gly8674Arg) c.1507G>C c.1882G>C c.1749G>C c.2014G>C (n.2014G>C) c.24949G>C (p.Gly8317Arg) n.2912G>C c.4940G>C (p.Arg1647Thr) n.9856G>C c.4043G>C (p.Arg1348Thr) n.9748G>C c.851-2600C>G (n.851-2600C>G) n.2778G>C n.6801G>C n.2942G>C c.2629G>C (p.Gly877Arg) c.26311G>C (p.Gly8771Arg) c.26299G>C (p.Gly8767Arg) c.26290G>C (p.Gly8764Arg) c.26269G>C (p.Gly8757Arg) c.26260G>C (p.Gly8754Arg) c.26254G>C (p.Gly8752Arg) c.26242G>C (p.Gly8748Arg) c.26239G>C (p.Gly8747Arg) c.26200G>C (p.Gly8734Arg) c.26185G>C (p.Gly8729Arg) c.26170G>C (p.Gly8724Arg) c.26158G>C (p.Gly8720Arg) c.26155G>C (p.Gly8719Arg) c.26152G>C (p.Gly8718Arg) c.26252G>C (p.Arg8751Thr) c.26210G>C (p.Arg8737Thr) c.26141G>C (p.Arg8714Thr) c.26308G>C (p.Gly8770Arg) c.26296G>C (p.Gly8766Arg) c.26146G>C (p.Gly8716Arg) c.24586G>C (p.Gly8196Arg) c.24079G>C (p.Gly8027Arg) c.19546G>C (p.Gly6516Arg) c.2711G>C (p.Arg904Thr) c.26284G>C (p.Gly8762Arg) c.26233G>C (p.Gly8745Arg) c.26197G>C (p.Gly8733Arg) c.26044G>C (p.Gly8682Arg) c.26183G>C (p.Arg8728Thr) c.26138G>C (p.Arg8713Thr) c.26126G>C (p.Arg8709Thr) | |
6 | g.152122666C>T | CA366089258 | ESR1,SYNE1 | c.2698G>A (p.Gly900Ser) c.26164G>A (p.Gly8722Ser) c.26020G>A (p.Gly8674Ser) c.1507G>A c.1882G>A c.1749G>A c.2014G>A (n.2014G>A) c.24949G>A (p.Gly8317Ser) n.2912G>A c.4940G>A (p.Arg1647Lys) n.9856G>A c.4043G>A (p.Arg1348Lys) n.9748G>A c.851-2600C>T (n.851-2600C>T) n.2778G>A n.6801G>A n.2942G>A c.2629G>A (p.Gly877Ser) c.26311G>A (p.Gly8771Ser) c.26299G>A (p.Gly8767Ser) c.26290G>A (p.Gly8764Ser) c.26269G>A (p.Gly8757Ser) c.26260G>A (p.Gly8754Ser) c.26254G>A (p.Gly8752Ser) c.26242G>A (p.Gly8748Ser) c.26239G>A (p.Gly8747Ser) c.26200G>A (p.Gly8734Ser) c.26185G>A (p.Gly8729Ser) c.26170G>A (p.Gly8724Ser) c.26158G>A (p.Gly8720Ser) c.26155G>A (p.Gly8719Ser) c.26152G>A (p.Gly8718Ser) c.26252G>A (p.Arg8751Lys) c.26210G>A (p.Arg8737Lys) c.26141G>A (p.Arg8714Lys) c.26308G>A (p.Gly8770Ser) c.26296G>A (p.Gly8766Ser) c.26146G>A (p.Gly8716Ser) c.24586G>A (p.Gly8196Ser) c.24079G>A (p.Gly8027Ser) c.19546G>A (p.Gly6516Ser) c.2711G>A (p.Arg904Lys) c.26284G>A (p.Gly8762Ser) c.26233G>A (p.Gly8745Ser) c.26197G>A (p.Gly8733Ser) c.26044G>A (p.Gly8682Ser) c.26183G>A (p.Arg8728Lys) c.26138G>A (p.Arg8713Lys) c.26126G>A (p.Arg8709Lys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152122667T>A | CA366089260 | ESR1,SYNE1 | c.2697A>T (p.Lys899Asn) c.26163A>T (p.Lys8721Asn) c.26019A>T (p.Lys8673Asn) c.1506A>T c.1881A>T c.1748A>T c.2013A>T (n.2013A>T) c.24948A>T (p.Lys8316Asn) n.2911A>T c.4939A>T (p.Arg1647Trp) n.9855A>T c.4042A>T (p.Arg1348Trp) n.9747A>T c.851-2599T>A (n.851-2599T>A) n.2777A>T n.6800A>T n.2941A>T c.2628A>T (p.Lys876Asn) c.26310A>T (p.Lys8770Asn) c.26298A>T (p.Lys8766Asn) c.26289A>T (p.Lys8763Asn) c.26268A>T (p.Lys8756Asn) c.26259A>T (p.Lys8753Asn) c.26253A>T (p.Lys8751Asn) c.26241A>T (p.Lys8747Asn) c.26238A>T (p.Lys8746Asn) c.26199A>T (p.Lys8733Asn) c.26184A>T (p.Lys8728Asn) c.26169A>T (p.Lys8723Asn) c.26157A>T (p.Lys8719Asn) c.26154A>T (p.Lys8718Asn) c.26151A>T (p.Lys8717Asn) c.26251A>T (p.Arg8751Trp) c.26209A>T (p.Arg8737Trp) c.26140A>T (p.Arg8714Trp) c.26307A>T (p.Lys8769Asn) c.26295A>T (p.Lys8765Asn) c.26145A>T (p.Lys8715Asn) c.24585A>T (p.Lys8195Asn) c.24078A>T (p.Lys8026Asn) c.19545A>T (p.Lys6515Asn) c.2710A>T (p.Arg904Trp) c.26283A>T (p.Lys8761Asn) c.26232A>T (p.Lys8744Asn) c.26196A>T (p.Lys8732Asn) c.26043A>T (p.Lys8681Asn) c.26182A>T (p.Arg8728Trp) c.26137A>T (p.Arg8713Trp) c.26125A>T (p.Arg8709Trp) | |
6 | g.152122667T>C | CA366089262 | ESR1,SYNE1 | c.2697A>G (p.Lys899=) c.26163A>G (p.Lys8721=) c.26019A>G (p.Lys8673=) c.1506A>G c.1881A>G c.1748A>G c.2013A>G (n.2013A>G) c.24948A>G (p.Lys8316=) n.2911A>G c.4939A>G (p.Arg1647Gly) n.9855A>G c.4042A>G (p.Arg1348Gly) n.9747A>G c.851-2599T>C (n.851-2599T>C) n.2777A>G n.6800A>G n.2941A>G c.2628A>G (p.Lys876=) c.26310A>G (p.Lys8770=) c.26298A>G (p.Lys8766=) c.26289A>G (p.Lys8763=) c.26268A>G (p.Lys8756=) c.26259A>G (p.Lys8753=) c.26253A>G (p.Lys8751=) c.26241A>G (p.Lys8747=) c.26238A>G (p.Lys8746=) c.26199A>G (p.Lys8733=) c.26184A>G (p.Lys8728=) c.26169A>G (p.Lys8723=) c.26157A>G (p.Lys8719=) c.26154A>G (p.Lys8718=) c.26151A>G (p.Lys8717=) c.26251A>G (p.Arg8751Gly) c.26209A>G (p.Arg8737Gly) c.26140A>G (p.Arg8714Gly) c.26307A>G (p.Lys8769=) c.26295A>G (p.Lys8765=) c.26145A>G (p.Lys8715=) c.24585A>G (p.Lys8195=) c.24078A>G (p.Lys8026=) c.19545A>G (p.Lys6515=) c.2710A>G (p.Arg904Gly) c.26283A>G (p.Lys8761=) c.26232A>G (p.Lys8744=) c.26196A>G (p.Lys8732=) c.26043A>G (p.Lys8681=) c.26182A>G (p.Arg8728Gly) c.26137A>G (p.Arg8713Gly) c.26125A>G (p.Arg8709Gly) | |
6 | g.152122667T>G | CA366089261 | ESR1,SYNE1 | c.2697A>C (p.Lys899Asn) c.26163A>C (p.Lys8721Asn) c.26019A>C (p.Lys8673Asn) c.1506A>C c.1881A>C c.1748A>C c.2013A>C (n.2013A>C) c.24948A>C (p.Lys8316Asn) n.2911A>C c.4939A>C (p.Arg1647=) n.9855A>C c.4042A>C (p.Arg1348=) n.9747A>C c.851-2599T>G (n.851-2599T>G) n.2777A>C n.6800A>C n.2941A>C c.2628A>C (p.Lys876Asn) c.26310A>C (p.Lys8770Asn) c.26298A>C (p.Lys8766Asn) c.26289A>C (p.Lys8763Asn) c.26268A>C (p.Lys8756Asn) c.26259A>C (p.Lys8753Asn) c.26253A>C (p.Lys8751Asn) c.26241A>C (p.Lys8747Asn) c.26238A>C (p.Lys8746Asn) c.26199A>C (p.Lys8733Asn) c.26184A>C (p.Lys8728Asn) c.26169A>C (p.Lys8723Asn) c.26157A>C (p.Lys8719Asn) c.26154A>C (p.Lys8718Asn) c.26151A>C (p.Lys8717Asn) c.26251A>C (p.Arg8751=) c.26209A>C (p.Arg8737=) c.26140A>C (p.Arg8714=) c.26307A>C (p.Lys8769Asn) c.26295A>C (p.Lys8765Asn) c.26145A>C (p.Lys8715Asn) c.24585A>C (p.Lys8195Asn) c.24078A>C (p.Lys8026Asn) c.19545A>C (p.Lys6515Asn) c.2710A>C (p.Arg904=) c.26283A>C (p.Lys8761Asn) c.26232A>C (p.Lys8744Asn) c.26196A>C (p.Lys8732Asn) c.26043A>C (p.Lys8681Asn) c.26182A>C (p.Arg8728=) c.26137A>C (p.Arg8713=) c.26125A>C (p.Arg8709=) | COSMIC COSMIC COSMIC |
6 | g.152122668T>A | CA366089263 | ESR1,SYNE1 | c.2696A>T (p.Lys899Ile) c.26162A>T (p.Lys8721Ile) c.26018A>T (p.Lys8673Ile) c.1505A>T c.1880A>T c.1747A>T c.2012A>T (n.2012A>T) c.24947A>T (p.Lys8316Ile) n.2910A>T c.4938A>T (p.Lys1646Asn) n.9854A>T c.4041A>T (p.Lys1347Asn) n.9746A>T c.851-2598T>A (n.851-2598T>A) n.2776A>T n.6799A>T n.2940A>T c.2627A>T (p.Lys876Ile) c.26309A>T (p.Lys8770Ile) c.26297A>T (p.Lys8766Ile) c.26288A>T (p.Lys8763Ile) c.26267A>T (p.Lys8756Ile) c.26258A>T (p.Lys8753Ile) c.26252A>T (p.Lys8751Ile) c.26240A>T (p.Lys8747Ile) c.26237A>T (p.Lys8746Ile) c.26198A>T (p.Lys8733Ile) c.26183A>T (p.Lys8728Ile) c.26168A>T (p.Lys8723Ile) c.26156A>T (p.Lys8719Ile) c.26153A>T (p.Lys8718Ile) c.26150A>T (p.Lys8717Ile) c.26250A>T (p.Lys8750Asn) c.26208A>T (p.Lys8736Asn) c.26139A>T (p.Lys8713Asn) c.26306A>T (p.Lys8769Ile) c.26294A>T (p.Lys8765Ile) c.26144A>T (p.Lys8715Ile) c.24584A>T (p.Lys8195Ile) c.24077A>T (p.Lys8026Ile) c.19544A>T (p.Lys6515Ile) c.2709A>T (p.Lys903Asn) c.26282A>T (p.Lys8761Ile) c.26231A>T (p.Lys8744Ile) c.26195A>T (p.Lys8732Ile) c.26042A>T (p.Lys8681Ile) c.26181A>T (p.Lys8727Asn) c.26136A>T (p.Lys8712Asn) c.26124A>T (p.Lys8708Asn) | |
6 | g.152122668T>C | CA366089264 | ESR1,SYNE1 | c.2696A>G (p.Lys899Arg) c.26162A>G (p.Lys8721Arg) c.26018A>G (p.Lys8673Arg) c.1505A>G c.1880A>G c.1747A>G c.2012A>G (n.2012A>G) c.24947A>G (p.Lys8316Arg) n.2910A>G c.4938A>G (p.Lys1646=) n.9854A>G c.4041A>G (p.Lys1347=) n.9746A>G c.851-2598T>C (n.851-2598T>C) n.2776A>G n.6799A>G n.2940A>G c.2627A>G (p.Lys876Arg) c.26309A>G (p.Lys8770Arg) c.26297A>G (p.Lys8766Arg) c.26288A>G (p.Lys8763Arg) c.26267A>G (p.Lys8756Arg) c.26258A>G (p.Lys8753Arg) c.26252A>G (p.Lys8751Arg) c.26240A>G (p.Lys8747Arg) c.26237A>G (p.Lys8746Arg) c.26198A>G (p.Lys8733Arg) c.26183A>G (p.Lys8728Arg) c.26168A>G (p.Lys8723Arg) c.26156A>G (p.Lys8719Arg) c.26153A>G (p.Lys8718Arg) c.26150A>G (p.Lys8717Arg) c.26250A>G (p.Lys8750=) c.26208A>G (p.Lys8736=) c.26139A>G (p.Lys8713=) c.26306A>G (p.Lys8769Arg) c.26294A>G (p.Lys8765Arg) c.26144A>G (p.Lys8715Arg) c.24584A>G (p.Lys8195Arg) c.24077A>G (p.Lys8026Arg) c.19544A>G (p.Lys6515Arg) c.2709A>G (p.Lys903=) c.26282A>G (p.Lys8761Arg) c.26231A>G (p.Lys8744Arg) c.26195A>G (p.Lys8732Arg) c.26042A>G (p.Lys8681Arg) c.26181A>G (p.Lys8727=) c.26136A>G (p.Lys8712=) c.26124A>G (p.Lys8708=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122668T>G | CA366089265 | ESR1,SYNE1 | c.2696A>C (p.Lys899Thr) c.26162A>C (p.Lys8721Thr) c.26018A>C (p.Lys8673Thr) c.1505A>C c.1880A>C c.1747A>C c.2012A>C (n.2012A>C) c.24947A>C (p.Lys8316Thr) n.2910A>C c.4938A>C (p.Lys1646Asn) n.9854A>C c.4041A>C (p.Lys1347Asn) n.9746A>C c.851-2598T>G (n.851-2598T>G) n.2776A>C n.6799A>C n.2940A>C c.2627A>C (p.Lys876Thr) c.26309A>C (p.Lys8770Thr) c.26297A>C (p.Lys8766Thr) c.26288A>C (p.Lys8763Thr) c.26267A>C (p.Lys8756Thr) c.26258A>C (p.Lys8753Thr) c.26252A>C (p.Lys8751Thr) c.26240A>C (p.Lys8747Thr) c.26237A>C (p.Lys8746Thr) c.26198A>C (p.Lys8733Thr) c.26183A>C (p.Lys8728Thr) c.26168A>C (p.Lys8723Thr) c.26156A>C (p.Lys8719Thr) c.26153A>C (p.Lys8718Thr) c.26150A>C (p.Lys8717Thr) c.26250A>C (p.Lys8750Asn) c.26208A>C (p.Lys8736Asn) c.26139A>C (p.Lys8713Asn) c.26306A>C (p.Lys8769Thr) c.26294A>C (p.Lys8765Thr) c.26144A>C (p.Lys8715Thr) c.24584A>C (p.Lys8195Thr) c.24077A>C (p.Lys8026Thr) c.19544A>C (p.Lys6515Thr) c.2709A>C (p.Lys903Asn) c.26282A>C (p.Lys8761Thr) c.26231A>C (p.Lys8744Thr) c.26195A>C (p.Lys8732Thr) c.26042A>C (p.Lys8681Thr) c.26181A>C (p.Lys8727Asn) c.26136A>C (p.Lys8712Asn) c.26124A>C (p.Lys8708Asn) | |
6 | g.152122668T= | CA1673189312 | ESR1,SYNE1 | c.2696A= (p.Lys899=) c.26162A= (p.Lys8721=) c.26018A= (p.Lys8673=) c.1505A= c.1880A= c.1747A= c.2012A= (n.2012A=) c.24947A= (p.Lys8316=) n.2910A= c.4938A= (p.Lys1646=) n.9854A= c.4041A= (p.Lys1347=) n.9746A= c.851-2598T= (n.851-2598T=) n.2776A= n.6799A= n.2940A= c.2627A= (p.Lys876=) c.26309A= (p.Lys8770=) c.26297A= (p.Lys8766=) c.26288A= (p.Lys8763=) c.26267A= (p.Lys8756=) c.26258A= (p.Lys8753=) c.26252A= (p.Lys8751=) c.26240A= (p.Lys8747=) c.26237A= (p.Lys8746=) c.26198A= (p.Lys8733=) c.26183A= (p.Lys8728=) c.26168A= (p.Lys8723=) c.26156A= (p.Lys8719=) c.26153A= (p.Lys8718=) c.26150A= (p.Lys8717=) c.26250A= (p.Lys8750=) c.26208A= (p.Lys8736=) c.26139A= (p.Lys8713=) c.26306A= (p.Lys8769=) c.26294A= (p.Lys8765=) c.26144A= (p.Lys8715=) c.24584A= (p.Lys8195=) c.24077A= (p.Lys8026=) c.19544A= (p.Lys6515=) c.2709A= (p.Lys903=) c.26282A= (p.Lys8761=) c.26231A= (p.Lys8744=) c.26195A= (p.Lys8732=) c.26042A= (p.Lys8681=) c.26181A= (p.Lys8727=) c.26136A= (p.Lys8712=) c.26124A= (p.Lys8708=) | |
6 | g.152122669T>A | CA366089266 | ESR1,SYNE1 | c.2695A>T (p.Lys899Ter) c.26161A>T (p.Lys8721Ter) c.26017A>T (p.Lys8673Ter) c.1504A>T c.1879A>T c.1746A>T c.2011A>T (n.2011A>T) c.24946A>T (p.Lys8316Ter) n.2909A>T c.4937A>T (p.Lys1646Ile) n.9853A>T c.4040A>T (p.Lys1347Ile) n.9745A>T c.851-2597T>A (n.851-2597T>A) n.2775A>T n.6798A>T n.2939A>T c.2626A>T (p.Lys876Ter) c.26308A>T (p.Lys8770Ter) c.26296A>T (p.Lys8766Ter) c.26287A>T (p.Lys8763Ter) c.26266A>T (p.Lys8756Ter) c.26257A>T (p.Lys8753Ter) c.26251A>T (p.Lys8751Ter) c.26239A>T (p.Lys8747Ter) c.26236A>T (p.Lys8746Ter) c.26197A>T (p.Lys8733Ter) c.26182A>T (p.Lys8728Ter) c.26167A>T (p.Lys8723Ter) c.26155A>T (p.Lys8719Ter) c.26152A>T (p.Lys8718Ter) c.26149A>T (p.Lys8717Ter) c.26249A>T (p.Lys8750Ile) c.26207A>T (p.Lys8736Ile) c.26138A>T (p.Lys8713Ile) c.26305A>T (p.Lys8769Ter) c.26293A>T (p.Lys8765Ter) c.26143A>T (p.Lys8715Ter) c.24583A>T (p.Lys8195Ter) c.24076A>T (p.Lys8026Ter) c.19543A>T (p.Lys6515Ter) c.2708A>T (p.Lys903Ile) c.26281A>T (p.Lys8761Ter) c.26230A>T (p.Lys8744Ter) c.26194A>T (p.Lys8732Ter) c.26041A>T (p.Lys8681Ter) c.26180A>T (p.Lys8727Ile) c.26135A>T (p.Lys8712Ile) c.26123A>T (p.Lys8708Ile) | |
6 | g.152122669T>C | CA366089267 | ESR1,SYNE1 | c.2695A>G (p.Lys899Glu) c.26161A>G (p.Lys8721Glu) c.26017A>G (p.Lys8673Glu) c.1504A>G c.1879A>G c.1746A>G c.2011A>G (n.2011A>G) c.24946A>G (p.Lys8316Glu) n.2909A>G c.4937A>G (p.Lys1646Arg) n.9853A>G c.4040A>G (p.Lys1347Arg) n.9745A>G c.851-2597T>C (n.851-2597T>C) n.2775A>G n.6798A>G n.2939A>G c.2626A>G (p.Lys876Glu) c.26308A>G (p.Lys8770Glu) c.26296A>G (p.Lys8766Glu) c.26287A>G (p.Lys8763Glu) c.26266A>G (p.Lys8756Glu) c.26257A>G (p.Lys8753Glu) c.26251A>G (p.Lys8751Glu) c.26239A>G (p.Lys8747Glu) c.26236A>G (p.Lys8746Glu) c.26197A>G (p.Lys8733Glu) c.26182A>G (p.Lys8728Glu) c.26167A>G (p.Lys8723Glu) c.26155A>G (p.Lys8719Glu) c.26152A>G (p.Lys8718Glu) c.26149A>G (p.Lys8717Glu) c.26249A>G (p.Lys8750Arg) c.26207A>G (p.Lys8736Arg) c.26138A>G (p.Lys8713Arg) c.26305A>G (p.Lys8769Glu) c.26293A>G (p.Lys8765Glu) c.26143A>G (p.Lys8715Glu) c.24583A>G (p.Lys8195Glu) c.24076A>G (p.Lys8026Glu) c.19543A>G (p.Lys6515Glu) c.2708A>G (p.Lys903Arg) c.26281A>G (p.Lys8761Glu) c.26230A>G (p.Lys8744Glu) c.26194A>G (p.Lys8732Glu) c.26041A>G (p.Lys8681Glu) c.26180A>G (p.Lys8727Arg) c.26135A>G (p.Lys8712Arg) c.26123A>G (p.Lys8708Arg) | |
6 | g.152122669T>G | CA366089268 | ESR1,SYNE1 | c.2695A>C (p.Lys899Gln) c.26161A>C (p.Lys8721Gln) c.26017A>C (p.Lys8673Gln) c.1504A>C c.1879A>C c.1746A>C c.2011A>C (n.2011A>C) c.24946A>C (p.Lys8316Gln) n.2909A>C c.4937A>C (p.Lys1646Thr) n.9853A>C c.4040A>C (p.Lys1347Thr) n.9745A>C c.851-2597T>G (n.851-2597T>G) n.2775A>C n.6798A>C n.2939A>C c.2626A>C (p.Lys876Gln) c.26308A>C (p.Lys8770Gln) c.26296A>C (p.Lys8766Gln) c.26287A>C (p.Lys8763Gln) c.26266A>C (p.Lys8756Gln) c.26257A>C (p.Lys8753Gln) c.26251A>C (p.Lys8751Gln) c.26239A>C (p.Lys8747Gln) c.26236A>C (p.Lys8746Gln) c.26197A>C (p.Lys8733Gln) c.26182A>C (p.Lys8728Gln) c.26167A>C (p.Lys8723Gln) c.26155A>C (p.Lys8719Gln) c.26152A>C (p.Lys8718Gln) c.26149A>C (p.Lys8717Gln) c.26249A>C (p.Lys8750Thr) c.26207A>C (p.Lys8736Thr) c.26138A>C (p.Lys8713Thr) c.26305A>C (p.Lys8769Gln) c.26293A>C (p.Lys8765Gln) c.26143A>C (p.Lys8715Gln) c.24583A>C (p.Lys8195Gln) c.24076A>C (p.Lys8026Gln) c.19543A>C (p.Lys6515Gln) c.2708A>C (p.Lys903Thr) c.26281A>C (p.Lys8761Gln) c.26230A>C (p.Lys8744Gln) c.26194A>C (p.Lys8732Gln) c.26041A>C (p.Lys8681Gln) c.26180A>C (p.Lys8727Thr) c.26135A>C (p.Lys8712Thr) c.26123A>C (p.Lys8708Thr) |