Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.152122397T>G | CA571437286 | ESR1,SYNE1 | c.*39A>C (n.*39A>C) c.1776A>C c.2151A>C c.2018A>C c.2283A>C (n.2283A>C) n.3181A>C c.5209A>C (n.5209A>C) n.10125A>C c.4312A>C (n.4312A>C) n.10017A>C c.851-2869T>G (n.851-2869T>G) n.3047A>C n.7070A>C c.*244A>C (n.*244A>C) c.19815A>C (n.19815A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122397T= | CA1673188588 | ESR1,SYNE1 | c.*39A= (n.*39A=) c.1776A= c.2151A= c.2018A= c.2283A= (n.2283A=) n.3181A= c.5209A= (n.5209A=) n.10125A= c.4312A= (n.4312A=) n.10017A= c.851-2869T= (n.851-2869T=) n.3047A= n.7070A= c.*244A= (n.*244A=) c.19815A= (n.19815A=) | |
6 | g.152122400T>A | CA150189309 | ESR1,SYNE1 | c.*36A>T (n.*36A>T) c.1773A>T c.2148A>T c.2015A>T c.2280A>T (n.2280A>T) n.3178A>T c.5206A>T (n.5206A>T) n.10122A>T c.4309A>T (n.4309A>T) n.10014A>T c.851-2866T>A (n.851-2866T>A) n.3044A>T n.7067A>T c.*241A>T (n.*241A>T) c.19812A>T (n.19812A>T) | dbSNP gnomAD v4 |
6 | g.152122400T>C | CA1673188592 | ESR1,SYNE1 | c.*36A>G (n.*36A>G) c.1773A>G c.2148A>G c.2015A>G c.2280A>G (n.2280A>G) n.3178A>G c.5206A>G (n.5206A>G) n.10122A>G c.4309A>G (n.4309A>G) n.10014A>G c.851-2866T>C (n.851-2866T>C) n.3044A>G n.7067A>G c.*241A>G (n.*241A>G) c.19812A>G (n.19812A>G) | dbSNP gnomAD v4 |
6 | g.152122400T= | CA1673188591 | ESR1,SYNE1 | c.*36A= (n.*36A=) c.1773A= c.2148A= c.2015A= c.2280A= (n.2280A=) n.3178A= c.5206A= (n.5206A=) n.10122A= c.4309A= (n.4309A=) n.10014A= c.851-2866T= (n.851-2866T=) n.3044A= n.7067A= c.*241A= (n.*241A=) c.19812A= (n.19812A=) | |
6 | g.152122401G>A | CA4052561 | ESR1,SYNE1 | c.*35C>T (n.*35C>T) c.1772C>T c.2147C>T c.2014C>T c.2279C>T (n.2279C>T) n.3177C>T c.5205C>T (n.5205C>T) n.10121C>T c.4308C>T (n.4308C>T) n.10013C>T c.851-2865G>A (n.851-2865G>A) n.3043C>T n.7066C>T c.*240C>T (n.*240C>T) c.19811C>T (n.19811C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122401G= | CA1673188598 | ESR1,SYNE1 | c.*35C= (n.*35C=) c.1772C= c.2147C= c.2014C= c.2279C= (n.2279C=) n.3177C= c.5205C= (n.5205C=) n.10121C= c.4308C= (n.4308C=) n.10013C= c.851-2865G= (n.851-2865G=) n.3043C= n.7066C= c.*240C= (n.*240C=) c.19811C= (n.19811C=) | |
6 | g.152122401G>T | CA452969334 | ESR1,SYNE1 | c.*35C>A (n.*35C>A) c.1772C>A c.2147C>A c.2014C>A c.2279C>A (n.2279C>A) n.3177C>A c.5205C>A (n.5205C>A) n.10121C>A c.4308C>A (n.4308C>A) n.10013C>A c.851-2865G>T (n.851-2865G>T) n.3043C>A n.7066C>A c.*240C>A (n.*240C>A) c.19811C>A (n.19811C>A) | |
6 | g.152122402C= | CA1673188602 | ESR1,SYNE1 | c.*34G= (n.*34G=) c.1771G= c.2146G= c.2013G= c.2278G= (n.2278G=) n.3176G= c.5204G= (n.5204G=) n.10120G= c.4307G= (n.4307G=) n.10012G= c.851-2864C= (n.851-2864C=) n.3042G= n.7065G= c.*239G= (n.*239G=) c.19810G= (n.19810G=) | |
6 | g.152122402C>G | CA820881116 | ESR1,SYNE1 | c.*34G>C (n.*34G>C) c.1771G>C c.2146G>C c.2013G>C c.2278G>C (n.2278G>C) n.3176G>C c.5204G>C (n.5204G>C) n.10120G>C c.4307G>C (n.4307G>C) n.10012G>C c.851-2864C>G (n.851-2864C>G) n.3042G>C n.7065G>C c.*239G>C (n.*239G>C) c.19810G>C (n.19810G>C) | dbSNP gnomAD v4 |
6 | g.152122403T>C | CA1095927000 | ESR1,SYNE1 | c.*33A>G (n.*33A>G) c.1770A>G c.2145A>G c.2012A>G c.2277A>G (n.2277A>G) n.3175A>G c.5203A>G (n.5203A>G) n.10119A>G c.4306A>G (n.4306A>G) n.10011A>G c.851-2863T>C (n.851-2863T>C) n.3041A>G n.7064A>G c.*238A>G (n.*238A>G) c.19809A>G (n.19809A>G) | gnomAD v3 gnomAD v4 |
6 | g.152122404A= | CA1673188605 | ESR1,SYNE1 | c.*32T= (n.*32T=) c.1769T= c.2144T= c.2011T= c.2276T= (n.2276T=) n.3174T= c.5202T= (n.5202T=) n.10118T= c.4305T= (n.4305T=) n.10010T= c.851-2862A= (n.851-2862A=) n.3040T= n.7063T= c.*237T= (n.*237T=) c.19808T= (n.19808T=) | |
6 | g.152122404A>C | CA150189318 | ESR1,SYNE1 | c.*32T>G (n.*32T>G) c.1769T>G c.2144T>G c.2011T>G c.2276T>G (n.2276T>G) n.3174T>G c.5202T>G (n.5202T>G) n.10118T>G c.4305T>G (n.4305T>G) n.10010T>G c.851-2862A>C (n.851-2862A>C) n.3040T>G n.7063T>G c.*237T>G (n.*237T>G) c.19808T>G (n.19808T>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152122404A>G | CA150189323 | ESR1,SYNE1 | c.*32T>C (n.*32T>C) c.1769T>C c.2144T>C c.2011T>C c.2276T>C (n.2276T>C) n.3174T>C c.5202T>C (n.5202T>C) n.10118T>C c.4305T>C (n.4305T>C) n.10010T>C c.851-2862A>G (n.851-2862A>G) n.3040T>C n.7063T>C c.*237T>C (n.*237T>C) c.19808T>C (n.19808T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152122405C= | CA1673188617 | ESR1,SYNE1 | c.*31G= (n.*31G=) c.1768G= c.2143G= c.2010G= c.2275G= (n.2275G=) n.3173G= c.5201G= (n.5201G=) n.10117G= c.4304G= (n.4304G=) n.10009G= c.851-2861C= (n.851-2861C=) n.3039G= n.7062G= c.*236G= (n.*236G=) c.19807G= (n.19807G=) | |
6 | g.152122405C>T | CA571437287 | ESR1,SYNE1 | c.*31G>A (n.*31G>A) c.1768G>A c.2143G>A c.2010G>A c.2275G>A (n.2275G>A) n.3173G>A c.5201G>A (n.5201G>A) n.10117G>A c.4304G>A (n.4304G>A) n.10009G>A c.851-2861C>T (n.851-2861C>T) n.3039G>A n.7062G>A c.*236G>A (n.*236G>A) c.19807G>A (n.19807G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122406C= | CA1673188620 | ESR1,SYNE1 | c.*30G= (n.*30G=) c.1767G= c.2142G= c.2009G= c.2274G= (n.2274G=) n.3172G= c.5200G= (n.5200G=) n.10116G= c.4303G= (n.4303G=) n.10008G= c.851-2860C= (n.851-2860C=) n.3038G= n.7061G= c.*235G= (n.*235G=) c.19806G= (n.19806G=) | |
6 | g.152122406C>T | CA4052562 | ESR1,SYNE1 | c.*30G>A (n.*30G>A) c.1767G>A c.2142G>A c.2009G>A c.2274G>A (n.2274G>A) n.3172G>A c.5200G>A (n.5200G>A) n.10116G>A c.4303G>A (n.4303G>A) n.10008G>A c.851-2860C>T (n.851-2860C>T) n.3038G>A n.7061G>A c.*235G>A (n.*235G>A) c.19806G>A (n.19806G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122407A= | CA1673188621 | ESR1,SYNE1 | c.*29T= (n.*29T=) c.1766T= c.2141T= c.2008T= c.2273T= (n.2273T=) n.3171T= c.5199T= (n.5199T=) n.10115T= c.4302T= (n.4302T=) n.10007T= c.851-2859A= (n.851-2859A=) n.3037T= n.7060T= c.*234T= (n.*234T=) c.19805T= (n.19805T=) | |
6 | g.152122407A>T | CA571437288 | ESR1,SYNE1 | c.*29T>A (n.*29T>A) c.1766T>A c.2141T>A c.2008T>A c.2273T>A (n.2273T>A) n.3171T>A c.5199T>A (n.5199T>A) n.10115T>A c.4302T>A (n.4302T>A) n.10007T>A c.851-2859A>T (n.851-2859A>T) n.3037T>A n.7060T>A c.*234T>A (n.*234T>A) c.19805T>A (n.19805T>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122408G= | CA1673188623 | ESR1,SYNE1 | c.*28C= (n.*28C=) c.1765C= c.2140C= c.2007C= c.2272C= (n.2272C=) n.3170C= c.5198C= (n.5198C=) n.10114C= c.4301C= (n.4301C=) n.10006C= c.851-2858G= (n.851-2858G=) n.3036C= n.7059C= c.*233C= (n.*233C=) c.19804C= (n.19804C=) | |
6 | g.152122408G>T | CA1095927005 | ESR1,SYNE1 | c.*28C>A (n.*28C>A) c.1765C>A c.2140C>A c.2007C>A c.2272C>A (n.2272C>A) n.3170C>A c.5198C>A (n.5198C>A) n.10114C>A c.4301C>A (n.4301C>A) n.10006C>A c.851-2858G>T (n.851-2858G>T) n.3036C>A n.7059C>A c.*233C>A (n.*233C>A) c.19804C>A (n.19804C>A) | dbSNP |
6 | g.152122409C>T | CA2680809423 | ESR1,SYNE1 | c.*27G>A (n.*27G>A) c.1764G>A c.2139G>A c.2006G>A c.2271G>A (n.2271G>A) n.3169G>A c.5197G>A (n.5197G>A) n.10113G>A c.4300G>A (n.4300G>A) n.10005G>A c.851-2857C>T (n.851-2857C>T) n.3035G>A n.7058G>A c.*232G>A (n.*232G>A) c.19803G>A (n.19803G>A) | gnomAD v4 |
6 | g.152122410A= | CA1673188625 | ESR1,SYNE1 | c.*26T= (n.*26T=) c.1763T= c.2138T= c.2005T= c.2270T= (n.2270T=) n.3168T= c.5196T= (n.5196T=) n.10112T= c.4299T= (n.4299T=) n.10004T= c.851-2856A= (n.851-2856A=) n.3034T= n.7057T= c.*231T= (n.*231T=) c.19802T= (n.19802T=) | |
6 | g.152122410A>G | CA2713124416 | ESR1,SYNE1 | c.*26T>C (n.*26T>C) c.1763T>C c.2138T>C c.2005T>C c.2270T>C (n.2270T>C) n.3168T>C c.5196T>C (n.5196T>C) n.10112T>C c.4299T>C (n.4299T>C) n.10004T>C c.851-2856A>G (n.851-2856A>G) n.3034T>C n.7057T>C c.*231T>C (n.*231T>C) c.19802T>C (n.19802T>C) | dbSNP |
6 | g.152122410A>T | CA4052563 | ESR1,SYNE1 | c.*26T>A (n.*26T>A) c.1763T>A c.2138T>A c.2005T>A c.2270T>A (n.2270T>A) n.3168T>A c.5196T>A (n.5196T>A) n.10112T>A c.4299T>A (n.4299T>A) n.10004T>A c.851-2856A>T (n.851-2856A>T) n.3034T>A n.7057T>A c.*231T>A (n.*231T>A) c.19802T>A (n.19802T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122411C>A | CA4052564 | ESR1,SYNE1 | c.*25G>T (n.*25G>T) c.1762G>T c.2137G>T c.2004G>T c.2269G>T (n.2269G>T) n.3167G>T c.5195G>T (n.5195G>T) n.10111G>T c.4298G>T (n.4298G>T) n.10003G>T c.851-2855C>A (n.851-2855C>A) n.3033G>T n.7056G>T c.*230G>T (n.*230G>T) c.19801G>T (n.19801G>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.152122411C= | CA1673188629 | ESR1,SYNE1 | c.*25G= (n.*25G=) c.1762G= c.2137G= c.2004G= c.2269G= (n.2269G=) n.3167G= c.5195G= (n.5195G=) n.10111G= c.4298G= (n.4298G=) n.10003G= c.851-2855C= (n.851-2855C=) n.3033G= n.7056G= c.*230G= (n.*230G=) c.19801G= (n.19801G=) | |
6 | g.152122411C>T | CA1673188631 | ESR1,SYNE1 | c.*25G>A (n.*25G>A) c.1762G>A c.2137G>A c.2004G>A c.2269G>A (n.2269G>A) n.3167G>A c.5195G>A (n.5195G>A) n.10111G>A c.4298G>A (n.4298G>A) n.10003G>A c.851-2855C>T (n.851-2855C>T) n.3033G>A n.7056G>A c.*230G>A (n.*230G>A) c.19801G>A (n.19801G>A) | dbSNP |
6 | g.152122414C>T | CA2680809424 | ESR1,SYNE1 | c.*22G>A (n.*22G>A) c.1759G>A c.2134G>A c.2001G>A c.2266G>A (n.2266G>A) n.3164G>A c.5192G>A (n.5192G>A) n.10108G>A c.4295G>A (n.4295G>A) n.10000G>A c.851-2852C>T (n.851-2852C>T) n.3030G>A n.7053G>A c.*227G>A (n.*227G>A) c.19798G>A (n.19798G>A) | gnomAD v4 |
6 | g.152122415T>C | CA4052565 | ESR1,SYNE1 | c.*21A>G (n.*21A>G) c.1758A>G c.2133A>G c.2000A>G c.2265A>G (n.2265A>G) n.3163A>G c.5191A>G (n.5191A>G) n.10107A>G c.4294A>G (n.4294A>G) n.9999A>G c.851-2851T>C (n.851-2851T>C) n.3029A>G n.7052A>G c.*226A>G (n.*226A>G) c.19797A>G (n.19797A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122415T>G | CA820881125 | ESR1,SYNE1 | c.*21A>C (n.*21A>C) c.1758A>C c.2133A>C c.2000A>C c.2265A>C (n.2265A>C) n.3163A>C c.5191A>C (n.5191A>C) n.10107A>C c.4294A>C (n.4294A>C) n.9999A>C c.851-2851T>G (n.851-2851T>G) n.3029A>C n.7052A>C c.*226A>C (n.*226A>C) c.19797A>C (n.19797A>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152122415T= | CA1673188636 | ESR1,SYNE1 | c.*21A= (n.*21A=) c.1758A= c.2133A= c.2000A= c.2265A= (n.2265A=) n.3163A= c.5191A= (n.5191A=) n.10107A= c.4294A= (n.4294A=) n.9999A= c.851-2851T= (n.851-2851T=) n.3029A= n.7052A= c.*226A= (n.*226A=) c.19797A= (n.19797A=) | |
6 | g.152122417C= | CA1673188639 | ESR1,SYNE1 | c.*19G= (n.*19G=) c.1756G= c.2131G= c.1998G= c.2263G= (n.2263G=) n.3161G= c.5189G= (n.5189G=) n.10105G= c.4292G= (n.4292G=) n.9997G= c.851-2849C= (n.851-2849C=) n.3027G= n.7050G= c.*224G= (n.*224G=) c.19795G= (n.19795G=) | |
6 | g.152122417C>T | CA571437289 | ESR1,SYNE1 | c.*19G>A (n.*19G>A) c.1756G>A c.2131G>A c.1998G>A c.2263G>A (n.2263G>A) n.3161G>A c.5189G>A (n.5189G>A) n.10105G>A c.4292G>A (n.4292G>A) n.9997G>A c.851-2849C>T (n.851-2849C>T) n.3027G>A n.7050G>A c.*224G>A (n.*224G>A) c.19795G>A (n.19795G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122419G>A | CA4052566 | ESR1,SYNE1 | c.*17C>T (n.*17C>T) c.1754C>T c.2129C>T c.1996C>T c.2261C>T (n.2261C>T) n.3159C>T c.5187C>T (n.5187C>T) n.10103C>T c.4290C>T (n.4290C>T) n.9995C>T c.851-2847G>A (n.851-2847G>A) n.3025C>T n.7048C>T c.*222C>T (n.*222C>T) c.19793C>T (n.19793C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122419G= | CA1673188646 | ESR1,SYNE1 | c.*17C= (n.*17C=) c.1754C= c.2129C= c.1996C= c.2261C= (n.2261C=) n.3159C= c.5187C= (n.5187C=) n.10103C= c.4290C= (n.4290C=) n.9995C= c.851-2847G= (n.851-2847G=) n.3025C= n.7048C= c.*222C= (n.*222C=) c.19793C= (n.19793C=) | |
6 | g.152122420A= | CA1673188651 | ESR1,SYNE1 | c.*16T= (n.*16T=) c.1753T= c.2128T= c.1995T= c.2260T= (n.2260T=) n.3158T= c.5186T= (n.5186T=) n.10102T= c.4289T= (n.4289T=) n.9994T= c.851-2846A= (n.851-2846A=) n.3024T= n.7047T= c.*221T= (n.*221T=) c.19792T= (n.19792T=) | |
6 | g.152122420A>G | CA1673188654 | ESR1,SYNE1 | c.*16T>C (n.*16T>C) c.1753T>C c.2128T>C c.1995T>C c.2260T>C (n.2260T>C) n.3158T>C c.5186T>C (n.5186T>C) n.10102T>C c.4289T>C (n.4289T>C) n.9994T>C c.851-2846A>G (n.851-2846A>G) n.3024T>C n.7047T>C c.*221T>C (n.*221T>C) c.19792T>C (n.19792T>C) | dbSNP |
6 | g.152122421T>C | CA820881130 | ESR1,SYNE1 | c.*15A>G (n.*15A>G) c.1752A>G c.2127A>G c.1994A>G c.2259A>G (n.2259A>G) n.3157A>G c.5185A>G (n.5185A>G) n.10101A>G c.4288A>G (n.4288A>G) n.9993A>G c.851-2845T>C (n.851-2845T>C) n.3023A>G n.7046A>G c.*220A>G (n.*220A>G) c.19791A>G (n.19791A>G) | dbSNP gnomAD v4 |
6 | g.152122421T= | CA1673188658 | ESR1,SYNE1 | c.*15A= (n.*15A=) c.1752A= c.2127A= c.1994A= c.2259A= (n.2259A=) n.3157A= c.5185A= (n.5185A=) n.10101A= c.4288A= (n.4288A=) n.9993A= c.851-2845T= (n.851-2845T=) n.3023A= n.7046A= c.*220A= (n.*220A=) c.19791A= (n.19791A=) | |
6 | g.152122424C>T | CA2680809425 | ESR1,SYNE1 | c.*12G>A (n.*12G>A) c.1749G>A c.2124G>A c.1991G>A c.2256G>A (n.2256G>A) n.3154G>A c.5182G>A (n.5182G>A) n.10098G>A c.4285G>A (n.4285G>A) n.9990G>A c.851-2842C>T (n.851-2842C>T) n.3020G>A n.7043G>A c.*217G>A (n.*217G>A) c.19788G>A (n.19788G>A) | gnomAD v4 |
6 | g.152122425A= | CA1673188664 | ESR1,SYNE1 | c.*11T= (n.*11T=) c.1748T= c.2123T= c.1990T= c.2255T= (n.2255T=) n.3153T= c.5181T= (n.5181T=) n.10097T= c.4284T= (n.4284T=) n.9989T= c.851-2841A= (n.851-2841A=) n.3019T= n.7042T= c.*216T= (n.*216T=) c.19787T= (n.19787T=) | |
6 | g.152122425A>T | CA4052567 | ESR1,SYNE1 | c.*11T>A (n.*11T>A) c.1748T>A c.2123T>A c.1990T>A c.2255T>A (n.2255T>A) n.3153T>A c.5181T>A (n.5181T>A) n.10097T>A c.4284T>A (n.4284T>A) n.9989T>A c.851-2841A>T (n.851-2841A>T) n.3019T>A n.7042T>A c.*216T>A (n.*216T>A) c.19787T>A (n.19787T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122426_152122427delinsTC | CA1673188666 | ESR1,SYNE1 | c.*9_*10delinsGA (n.*9_*10delinsGA) c.1746_1747delinsGA c.2121_2122delinsGA c.1988_1989delinsGA c.2253_2254delinsGA (n.2253_2254delinsGA) n.3151_3152delinsGA c.5179_5180delinsGA (n.5179_5180delinsGA) n.10095_10096delinsGA c.4282_4283delinsGA (n.4282_4283delinsGA) n.9987_9988delinsGA c.851-2840_851-2839delinsTC (n.851-2840_851-2839delinsTC) n.3017_3018delinsGA n.7040_7041delinsGA c.*214_*215delinsGA (n.*214_*215delinsGA) c.19785_19786delinsGA (n.19785_19786delinsGA) | |
6 | g.152122427del | CA1673188668 | ESR1,SYNE1 | c.*9del (n.*9del) c.1746del c.2121del c.1988del c.2253del (n.2253del) n.3151del c.5179del (n.5179del) n.10095del c.4282del (n.4282del) n.9987del c.851-2839del (n.851-2839del) n.3017del n.7040del c.*214del (n.*214del) c.19785del (n.19785del) | dbSNP |
6 | g.152122427C>A | CA2680809426 | ESR1,SYNE1 | c.*9G>T (n.*9G>T) c.1746G>T c.2121G>T c.1988G>T c.2253G>T (n.2253G>T) n.3151G>T c.5179G>T (n.5179G>T) n.10095G>T c.4282G>T (n.4282G>T) n.9987G>T c.851-2839C>A (n.851-2839C>A) n.3017G>T n.7040G>T c.*214G>T (n.*214G>T) c.19785G>T (n.19785G>T) | gnomAD v4 |
6 | g.152122427C>G | CA2680809427 | ESR1,SYNE1 | c.*9G>C (n.*9G>C) c.1746G>C c.2121G>C c.1988G>C c.2253G>C (n.2253G>C) n.3151G>C c.5179G>C (n.5179G>C) n.10095G>C c.4282G>C (n.4282G>C) n.9987G>C c.851-2839C>G (n.851-2839C>G) n.3017G>C n.7040G>C c.*214G>C (n.*214G>C) c.19785G>C (n.19785G>C) | gnomAD v4 |
6 | g.152122429G>C | CA2578773004 | ESR1,SYNE1 | c.*7C>G (n.*7C>G) c.1744C>G c.2119C>G c.1986C>G c.2251C>G (n.2251C>G) n.3149C>G c.5177C>G (n.5177C>G) n.10093C>G c.4280C>G (n.4280C>G) n.9985C>G c.851-2837G>C (n.851-2837G>C) n.3015C>G n.7038C>G c.*212C>G (n.*212C>G) c.19783C>G (n.19783C>G) | |
6 | g.152122433A= | CA1673188669 | ESR1,SYNE1 | c.*3T= (n.*3T=) c.1740T= c.2115T= c.1982T= c.2247T= (n.2247T=) n.3145T= c.5173T= (n.5173T=) n.10089T= c.4276T= (n.4276T=) n.9981T= c.851-2833A= (n.851-2833A=) n.3011T= n.7034T= c.*208T= (n.*208T=) c.19779T= (n.19779T=) | |
6 | g.152122433A>G | CA4052568 | ESR1,SYNE1 | c.*3T>C (n.*3T>C) c.1740T>C c.2115T>C c.1982T>C c.2247T>C (n.2247T>C) n.3145T>C c.5173T>C (n.5173T>C) n.10089T>C c.4276T>C (n.4276T>C) n.9981T>C c.851-2833A>G (n.851-2833A>G) n.3011T>C n.7034T>C c.*208T>C (n.*208T>C) c.19779T>C (n.19779T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122435T>C | CA2680809428 | ESR1,SYNE1 | c.*1A>G (n.*1A>G) c.1738A>G c.2113A>G c.1980A>G c.2245A>G (n.2245A>G) n.3143A>G c.5171A>G (n.5171A>G) n.10087A>G c.4274A>G (n.4274A>G) n.9979A>G c.851-2831T>C (n.851-2831T>C) n.3009A>G n.7032A>G c.*206A>G (n.*206A>G) c.19777A>G (n.19777A>G) | gnomAD v4 |
6 | g.152122436T>A | CA366088407 | ESR1,SYNE1 | c.2928A>T (p.Ter976Cys) c.26394A>T (p.Ter8798Cys) c.26250A>T (p.Ter8750Cys) c.1737A>T c.2112A>T c.1979A>T c.2244A>T (n.2244A>T) c.25179A>T (p.Ter8393Cys) n.3142A>T c.5170A>T (n.5170A>T) n.10086A>T c.4273A>T (n.4273A>T) n.9978A>T c.851-2830T>A (n.851-2830T>A) n.3008A>T n.7031A>T c.2859A>T (p.Ter953Cys) c.26541A>T (p.Ter8847Cys) c.26529A>T (p.Ter8843Cys) c.26520A>T (p.Ter8840Cys) c.26499A>T (p.Ter8833Cys) c.26490A>T (p.Ter8830Cys) c.26484A>T (p.Ter8828Cys) c.26472A>T (p.Ter8824Cys) c.26469A>T (p.Ter8823Cys) c.26430A>T (p.Ter8810Cys) c.26415A>T (p.Ter8805Cys) c.26400A>T (p.Ter8800Cys) c.26388A>T (p.Ter8796Cys) c.26385A>T (p.Ter8795Cys) c.26382A>T (p.Ter8794Cys) c.*205A>T (n.*205A>T) c.26538A>T (p.Ter8846Cys) c.26526A>T (p.Ter8842Cys) c.26376A>T (p.Ter8792Cys) c.24816A>T (p.Ter8272Cys) c.24309A>T (p.Ter8103Cys) c.19776A>T (p.Ter6592Cys) c.26514A>T (p.Ter8838Cys) c.26463A>T (p.Ter8821Cys) c.26427A>T (p.Ter8809Cys) c.26274A>T (p.Ter8758Cys) | |
6 | g.152122436T>C | CA366088408 | ESR1,SYNE1 | c.2928A>G (p.Ter976Trp) c.26394A>G (p.Ter8798Trp) c.26250A>G (p.Ter8750Trp) c.1737A>G c.2112A>G c.1979A>G c.2244A>G (n.2244A>G) c.25179A>G (p.Ter8393Trp) n.3142A>G c.5170A>G (n.5170A>G) n.10086A>G c.4273A>G (n.4273A>G) n.9978A>G c.851-2830T>C (n.851-2830T>C) n.3008A>G n.7031A>G c.2859A>G (p.Ter953Trp) c.26541A>G (p.Ter8847Trp) c.26529A>G (p.Ter8843Trp) c.26520A>G (p.Ter8840Trp) c.26499A>G (p.Ter8833Trp) c.26490A>G (p.Ter8830Trp) c.26484A>G (p.Ter8828Trp) c.26472A>G (p.Ter8824Trp) c.26469A>G (p.Ter8823Trp) c.26430A>G (p.Ter8810Trp) c.26415A>G (p.Ter8805Trp) c.26400A>G (p.Ter8800Trp) c.26388A>G (p.Ter8796Trp) c.26385A>G (p.Ter8795Trp) c.26382A>G (p.Ter8794Trp) c.*205A>G (n.*205A>G) c.26538A>G (p.Ter8846Trp) c.26526A>G (p.Ter8842Trp) c.26376A>G (p.Ter8792Trp) c.24816A>G (p.Ter8272Trp) c.24309A>G (p.Ter8103Trp) c.19776A>G (p.Ter6592Trp) c.26514A>G (p.Ter8838Trp) c.26463A>G (p.Ter8821Trp) c.26427A>G (p.Ter8809Trp) c.26274A>G (p.Ter8758Trp) | gnomAD v4 |
6 | g.152122436T>G | CA366088409 | ESR1,SYNE1 | c.2928A>C (p.Ter976Cys) c.26394A>C (p.Ter8798Cys) c.26250A>C (p.Ter8750Cys) c.1737A>C c.2112A>C c.1979A>C c.2244A>C (n.2244A>C) c.25179A>C (p.Ter8393Cys) n.3142A>C c.5170A>C (n.5170A>C) n.10086A>C c.4273A>C (n.4273A>C) n.9978A>C c.851-2830T>G (n.851-2830T>G) n.3008A>C n.7031A>C c.2859A>C (p.Ter953Cys) c.26541A>C (p.Ter8847Cys) c.26529A>C (p.Ter8843Cys) c.26520A>C (p.Ter8840Cys) c.26499A>C (p.Ter8833Cys) c.26490A>C (p.Ter8830Cys) c.26484A>C (p.Ter8828Cys) c.26472A>C (p.Ter8824Cys) c.26469A>C (p.Ter8823Cys) c.26430A>C (p.Ter8810Cys) c.26415A>C (p.Ter8805Cys) c.26400A>C (p.Ter8800Cys) c.26388A>C (p.Ter8796Cys) c.26385A>C (p.Ter8795Cys) c.26382A>C (p.Ter8794Cys) c.*205A>C (n.*205A>C) c.26538A>C (p.Ter8846Cys) c.26526A>C (p.Ter8842Cys) c.26376A>C (p.Ter8792Cys) c.24816A>C (p.Ter8272Cys) c.24309A>C (p.Ter8103Cys) c.19776A>C (p.Ter6592Cys) c.26514A>C (p.Ter8838Cys) c.26463A>C (p.Ter8821Cys) c.26427A>C (p.Ter8809Cys) c.26274A>C (p.Ter8758Cys) | |
6 | g.152122437C>A | CA366088411 | ESR1,SYNE1 | c.2927G>T (p.Ter976Leu) c.26393G>T (p.Ter8798Leu) c.26249G>T (p.Ter8750Leu) c.1736G>T c.2111G>T c.1978G>T c.2243G>T (n.2243G>T) c.25178G>T (p.Ter8393Leu) n.3141G>T c.5169G>T (n.5169G>T) n.10085G>T c.4272G>T (n.4272G>T) n.9977G>T c.851-2829C>A (n.851-2829C>A) n.3007G>T n.7030G>T c.2858G>T (p.Ter953Leu) c.26540G>T (p.Ter8847Leu) c.26528G>T (p.Ter8843Leu) c.26519G>T (p.Ter8840Leu) c.26498G>T (p.Ter8833Leu) c.26489G>T (p.Ter8830Leu) c.26483G>T (p.Ter8828Leu) c.26471G>T (p.Ter8824Leu) c.26468G>T (p.Ter8823Leu) c.26429G>T (p.Ter8810Leu) c.26414G>T (p.Ter8805Leu) c.26399G>T (p.Ter8800Leu) c.26387G>T (p.Ter8796Leu) c.26384G>T (p.Ter8795Leu) c.26381G>T (p.Ter8794Leu) c.*204G>T (n.*204G>T) c.26537G>T (p.Ter8846Leu) c.26525G>T (p.Ter8842Leu) c.26375G>T (p.Ter8792Leu) c.24815G>T (p.Ter8272Leu) c.24308G>T (p.Ter8103Leu) c.19775G>T (p.Ter6592Leu) c.26513G>T (p.Ter8838Leu) c.26462G>T (p.Ter8821Leu) c.26426G>T (p.Ter8809Leu) c.26273G>T (p.Ter8758Leu) | |
6 | g.152122437C= | CA1673188672 | ESR1,SYNE1 | c.2927G= (p.Ter976=) c.26393G= (p.Ter8798=) c.26249G= (p.Ter8750=) c.1736G= c.2111G= c.1978G= c.2243G= (n.2243G=) c.25178G= (p.Ter8393=) n.3141G= c.5169G= (n.5169G=) n.10085G= c.4272G= (n.4272G=) n.9977G= c.851-2829C= (n.851-2829C=) n.3007G= n.7030G= c.2858G= (p.Ter953=) c.26540G= (p.Ter8847=) c.26528G= (p.Ter8843=) c.26519G= (p.Ter8840=) c.26498G= (p.Ter8833=) c.26489G= (p.Ter8830=) c.26483G= (p.Ter8828=) c.26471G= (p.Ter8824=) c.26468G= (p.Ter8823=) c.26429G= (p.Ter8810=) c.26414G= (p.Ter8805=) c.26399G= (p.Ter8800=) c.26387G= (p.Ter8796=) c.26384G= (p.Ter8795=) c.26381G= (p.Ter8794=) c.*204G= (n.*204G=) c.26537G= (p.Ter8846=) c.26525G= (p.Ter8842=) c.26375G= (p.Ter8792=) c.24815G= (p.Ter8272=) c.24308G= (p.Ter8103=) c.19775G= (p.Ter6592=) c.26513G= (p.Ter8838=) c.26462G= (p.Ter8821=) c.26426G= (p.Ter8809=) c.26273G= (p.Ter8758=) | |
6 | g.152122437C>G | CA366088410 | ESR1,SYNE1 | c.2927G>C (p.Ter976Ser) c.26393G>C (p.Ter8798Ser) c.26249G>C (p.Ter8750Ser) c.1736G>C c.2111G>C c.1978G>C c.2243G>C (n.2243G>C) c.25178G>C (p.Ter8393Ser) n.3141G>C c.5169G>C (n.5169G>C) n.10085G>C c.4272G>C (n.4272G>C) n.9977G>C c.851-2829C>G (n.851-2829C>G) n.3007G>C n.7030G>C c.2858G>C (p.Ter953Ser) c.26540G>C (p.Ter8847Ser) c.26528G>C (p.Ter8843Ser) c.26519G>C (p.Ter8840Ser) c.26498G>C (p.Ter8833Ser) c.26489G>C (p.Ter8830Ser) c.26483G>C (p.Ter8828Ser) c.26471G>C (p.Ter8824Ser) c.26468G>C (p.Ter8823Ser) c.26429G>C (p.Ter8810Ser) c.26414G>C (p.Ter8805Ser) c.26399G>C (p.Ter8800Ser) c.26387G>C (p.Ter8796Ser) c.26384G>C (p.Ter8795Ser) c.26381G>C (p.Ter8794Ser) c.*204G>C (n.*204G>C) c.26537G>C (p.Ter8846Ser) c.26525G>C (p.Ter8842Ser) c.26375G>C (p.Ter8792Ser) c.24815G>C (p.Ter8272Ser) c.24308G>C (p.Ter8103Ser) c.19775G>C (p.Ter6592Ser) c.26513G>C (p.Ter8838Ser) c.26462G>C (p.Ter8821Ser) c.26426G>C (p.Ter8809Ser) c.26273G>C (p.Ter8758Ser) | |
6 | g.152122437C>T | CA4052569 | ESR1,SYNE1 | c.2927G>A (p.Ter976=) c.26393G>A (p.Ter8798=) c.26249G>A (p.Ter8750=) c.1736G>A c.2111G>A c.1978G>A c.2243G>A (n.2243G>A) c.25178G>A (p.Ter8393=) n.3141G>A c.5169G>A (n.5169G>A) n.10085G>A c.4272G>A (n.4272G>A) n.9977G>A c.851-2829C>T (n.851-2829C>T) n.3007G>A n.7030G>A c.2858G>A (p.Ter953=) c.26540G>A (p.Ter8847=) c.26528G>A (p.Ter8843=) c.26519G>A (p.Ter8840=) c.26498G>A (p.Ter8833=) c.26489G>A (p.Ter8830=) c.26483G>A (p.Ter8828=) c.26471G>A (p.Ter8824=) c.26468G>A (p.Ter8823=) c.26429G>A (p.Ter8810=) c.26414G>A (p.Ter8805=) c.26399G>A (p.Ter8800=) c.26387G>A (p.Ter8796=) c.26384G>A (p.Ter8795=) c.26381G>A (p.Ter8794=) c.*204G>A (n.*204G>A) c.26537G>A (p.Ter8846=) c.26525G>A (p.Ter8842=) c.26375G>A (p.Ter8792=) c.24815G>A (p.Ter8272=) c.24308G>A (p.Ter8103=) c.19775G>A (p.Ter6592=) c.26513G>A (p.Ter8838=) c.26462G>A (p.Ter8821=) c.26426G>A (p.Ter8809=) c.26273G>A (p.Ter8758=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122438A>C | CA366088412 | ESR1,SYNE1 | c.2926T>G (p.Ter976Gly) c.26392T>G (p.Ter8798Gly) c.26248T>G (p.Ter8750Gly) c.1735T>G c.2110T>G c.1977T>G c.2242T>G (n.2242T>G) c.25177T>G (p.Ter8393Gly) n.3140T>G c.5168T>G (n.5168T>G) n.10084T>G c.4271T>G (n.4271T>G) n.9976T>G c.851-2828A>C (n.851-2828A>C) n.3006T>G n.7029T>G c.2857T>G (p.Ter953Gly) c.26539T>G (p.Ter8847Gly) c.26527T>G (p.Ter8843Gly) c.26518T>G (p.Ter8840Gly) c.26497T>G (p.Ter8833Gly) c.26488T>G (p.Ter8830Gly) c.26482T>G (p.Ter8828Gly) c.26470T>G (p.Ter8824Gly) c.26467T>G (p.Ter8823Gly) c.26428T>G (p.Ter8810Gly) c.26413T>G (p.Ter8805Gly) c.26398T>G (p.Ter8800Gly) c.26386T>G (p.Ter8796Gly) c.26383T>G (p.Ter8795Gly) c.26380T>G (p.Ter8794Gly) c.*203T>G (n.*203T>G) c.26536T>G (p.Ter8846Gly) c.26524T>G (p.Ter8842Gly) c.26374T>G (p.Ter8792Gly) c.24814T>G (p.Ter8272Gly) c.24307T>G (p.Ter8103Gly) c.19774T>G (p.Ter6592Gly) c.26512T>G (p.Ter8838Gly) c.26461T>G (p.Ter8821Gly) c.26425T>G (p.Ter8809Gly) c.26272T>G (p.Ter8758Gly) | |
6 | g.152122438A>G | CA366088413 | ESR1,SYNE1 | c.2926T>C (p.Ter976Arg) c.26392T>C (p.Ter8798Arg) c.26248T>C (p.Ter8750Arg) c.1735T>C c.2110T>C c.1977T>C c.2242T>C (n.2242T>C) c.25177T>C (p.Ter8393Arg) n.3140T>C c.5168T>C (n.5168T>C) n.10084T>C c.4271T>C (n.4271T>C) n.9976T>C c.851-2828A>G (n.851-2828A>G) n.3006T>C n.7029T>C c.2857T>C (p.Ter953Arg) c.26539T>C (p.Ter8847Arg) c.26527T>C (p.Ter8843Arg) c.26518T>C (p.Ter8840Arg) c.26497T>C (p.Ter8833Arg) c.26488T>C (p.Ter8830Arg) c.26482T>C (p.Ter8828Arg) c.26470T>C (p.Ter8824Arg) c.26467T>C (p.Ter8823Arg) c.26428T>C (p.Ter8810Arg) c.26413T>C (p.Ter8805Arg) c.26398T>C (p.Ter8800Arg) c.26386T>C (p.Ter8796Arg) c.26383T>C (p.Ter8795Arg) c.26380T>C (p.Ter8794Arg) c.*203T>C (n.*203T>C) c.26536T>C (p.Ter8846Arg) c.26524T>C (p.Ter8842Arg) c.26374T>C (p.Ter8792Arg) c.24814T>C (p.Ter8272Arg) c.24307T>C (p.Ter8103Arg) c.19774T>C (p.Ter6592Arg) c.26512T>C (p.Ter8838Arg) c.26461T>C (p.Ter8821Arg) c.26425T>C (p.Ter8809Arg) c.26272T>C (p.Ter8758Arg) | |
6 | g.152122438A>T | CA366088414 | ESR1,SYNE1 | c.2926T>A (p.Ter976Arg) c.26392T>A (p.Ter8798Arg) c.26248T>A (p.Ter8750Arg) c.1735T>A c.2110T>A c.1977T>A c.2242T>A (n.2242T>A) c.25177T>A (p.Ter8393Arg) n.3140T>A c.5168T>A (n.5168T>A) n.10084T>A c.4271T>A (n.4271T>A) n.9976T>A c.851-2828A>T (n.851-2828A>T) n.3006T>A n.7029T>A c.2857T>A (p.Ter953Arg) c.26539T>A (p.Ter8847Arg) c.26527T>A (p.Ter8843Arg) c.26518T>A (p.Ter8840Arg) c.26497T>A (p.Ter8833Arg) c.26488T>A (p.Ter8830Arg) c.26482T>A (p.Ter8828Arg) c.26470T>A (p.Ter8824Arg) c.26467T>A (p.Ter8823Arg) c.26428T>A (p.Ter8810Arg) c.26413T>A (p.Ter8805Arg) c.26398T>A (p.Ter8800Arg) c.26386T>A (p.Ter8796Arg) c.26383T>A (p.Ter8795Arg) c.26380T>A (p.Ter8794Arg) c.*203T>A (n.*203T>A) c.26536T>A (p.Ter8846Arg) c.26524T>A (p.Ter8842Arg) c.26374T>A (p.Ter8792Arg) c.24814T>A (p.Ter8272Arg) c.24307T>A (p.Ter8103Arg) c.19774T>A (p.Ter6592Arg) c.26512T>A (p.Ter8838Arg) c.26461T>A (p.Ter8821Arg) c.26425T>A (p.Ter8809Arg) c.26272T>A (p.Ter8758Arg) | |
6 | g.152122439G>A | CA4052570 | ESR1,SYNE1 | c.2925C>T (p.Leu975=) c.26391C>T (p.Leu8797=) c.26247C>T (p.Leu8749=) c.1734C>T c.2109C>T c.1976C>T c.2241C>T (n.2241C>T) c.25176C>T (p.Leu8392=) n.3139C>T c.5167C>T (n.5167C>T) n.10083C>T c.4270C>T (n.4270C>T) n.9975C>T c.851-2827G>A (n.851-2827G>A) n.3005C>T n.7028C>T c.2856C>T (p.Leu952=) c.26538C>T (p.Leu8846=) c.26526C>T (p.Leu8842=) c.26517C>T (p.Leu8839=) c.26496C>T (p.Leu8832=) c.26487C>T (p.Leu8829=) c.26481C>T (p.Leu8827=) c.26469C>T (p.Leu8823=) c.26466C>T (p.Leu8822=) c.26427C>T (p.Leu8809=) c.26412C>T (p.Leu8804=) c.26397C>T (p.Leu8799=) c.26385C>T (p.Leu8795=) c.26382C>T (p.Leu8794=) c.26379C>T (p.Leu8793=) c.*202C>T (n.*202C>T) c.26535C>T (p.Leu8845=) c.26523C>T (p.Leu8841=) c.26373C>T (p.Leu8791=) c.24813C>T (p.Leu8271=) c.24306C>T (p.Leu8102=) c.19773C>T (p.Leu6591=) c.26511C>T (p.Leu8837=) c.26460C>T (p.Leu8820=) c.26424C>T (p.Leu8808=) c.26271C>T (p.Leu8757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122439G>C | CA452969360 | ESR1,SYNE1 | c.2925C>G (p.Leu975=) c.26391C>G (p.Leu8797=) c.26247C>G (p.Leu8749=) c.1734C>G c.2109C>G c.1976C>G c.2241C>G (n.2241C>G) c.25176C>G (p.Leu8392=) n.3139C>G c.5167C>G (n.5167C>G) n.10083C>G c.4270C>G (n.4270C>G) n.9975C>G c.851-2827G>C (n.851-2827G>C) n.3005C>G n.7028C>G c.2856C>G (p.Leu952=) c.26538C>G (p.Leu8846=) c.26526C>G (p.Leu8842=) c.26517C>G (p.Leu8839=) c.26496C>G (p.Leu8832=) c.26487C>G (p.Leu8829=) c.26481C>G (p.Leu8827=) c.26469C>G (p.Leu8823=) c.26466C>G (p.Leu8822=) c.26427C>G (p.Leu8809=) c.26412C>G (p.Leu8804=) c.26397C>G (p.Leu8799=) c.26385C>G (p.Leu8795=) c.26382C>G (p.Leu8794=) c.26379C>G (p.Leu8793=) c.*202C>G (n.*202C>G) c.26535C>G (p.Leu8845=) c.26523C>G (p.Leu8841=) c.26373C>G (p.Leu8791=) c.24813C>G (p.Leu8271=) c.24306C>G (p.Leu8102=) c.19773C>G (p.Leu6591=) c.26511C>G (p.Leu8837=) c.26460C>G (p.Leu8820=) c.26424C>G (p.Leu8808=) c.26271C>G (p.Leu8757=) | |
6 | g.152122439G= | CA1673188675 | ESR1,SYNE1 | c.2925C= (p.Leu975=) c.26391C= (p.Leu8797=) c.26247C= (p.Leu8749=) c.1734C= c.2109C= c.1976C= c.2241C= (n.2241C=) c.25176C= (p.Leu8392=) n.3139C= c.5167C= (n.5167C=) n.10083C= c.4270C= (n.4270C=) n.9975C= c.851-2827G= (n.851-2827G=) n.3005C= n.7028C= c.2856C= (p.Leu952=) c.26538C= (p.Leu8846=) c.26526C= (p.Leu8842=) c.26517C= (p.Leu8839=) c.26496C= (p.Leu8832=) c.26487C= (p.Leu8829=) c.26481C= (p.Leu8827=) c.26469C= (p.Leu8823=) c.26466C= (p.Leu8822=) c.26427C= (p.Leu8809=) c.26412C= (p.Leu8804=) c.26397C= (p.Leu8799=) c.26385C= (p.Leu8795=) c.26382C= (p.Leu8794=) c.26379C= (p.Leu8793=) c.*202C= (n.*202C=) c.26535C= (p.Leu8845=) c.26523C= (p.Leu8841=) c.26373C= (p.Leu8791=) c.24813C= (p.Leu8271=) c.24306C= (p.Leu8102=) c.19773C= (p.Leu6591=) c.26511C= (p.Leu8837=) c.26460C= (p.Leu8820=) c.26424C= (p.Leu8808=) c.26271C= (p.Leu8757=) | |
6 | g.152122439G>T | CA452969358 | ESR1,SYNE1 | c.2925C>A (p.Leu975=) c.26391C>A (p.Leu8797=) c.26247C>A (p.Leu8749=) c.1734C>A c.2109C>A c.1976C>A c.2241C>A (n.2241C>A) c.25176C>A (p.Leu8392=) n.3139C>A c.5167C>A (n.5167C>A) n.10083C>A c.4270C>A (n.4270C>A) n.9975C>A c.851-2827G>T (n.851-2827G>T) n.3005C>A n.7028C>A c.2856C>A (p.Leu952=) c.26538C>A (p.Leu8846=) c.26526C>A (p.Leu8842=) c.26517C>A (p.Leu8839=) c.26496C>A (p.Leu8832=) c.26487C>A (p.Leu8829=) c.26481C>A (p.Leu8827=) c.26469C>A (p.Leu8823=) c.26466C>A (p.Leu8822=) c.26427C>A (p.Leu8809=) c.26412C>A (p.Leu8804=) c.26397C>A (p.Leu8799=) c.26385C>A (p.Leu8795=) c.26382C>A (p.Leu8794=) c.26379C>A (p.Leu8793=) c.*202C>A (n.*202C>A) c.26535C>A (p.Leu8845=) c.26523C>A (p.Leu8841=) c.26373C>A (p.Leu8791=) c.24813C>A (p.Leu8271=) c.24306C>A (p.Leu8102=) c.19773C>A (p.Leu6591=) c.26511C>A (p.Leu8837=) c.26460C>A (p.Leu8820=) c.26424C>A (p.Leu8808=) c.26271C>A (p.Leu8757=) | |
6 | g.152122440A= | CA1673188679 | ESR1,SYNE1 | c.2924T= (p.Leu975=) c.26390T= (p.Leu8797=) c.26246T= (p.Leu8749=) c.1733T= c.2108T= c.1975T= c.2240T= (n.2240T=) c.25175T= (p.Leu8392=) n.3138T= c.5166T= (n.5166T=) n.10082T= c.4269T= (n.4269T=) n.9974T= c.851-2826A= (n.851-2826A=) n.3004T= n.7027T= c.2855T= (p.Leu952=) c.26537T= (p.Leu8846=) c.26525T= (p.Leu8842=) c.26516T= (p.Leu8839=) c.26495T= (p.Leu8832=) c.26486T= (p.Leu8829=) c.26480T= (p.Leu8827=) c.26468T= (p.Leu8823=) c.26465T= (p.Leu8822=) c.26426T= (p.Leu8809=) c.26411T= (p.Leu8804=) c.26396T= (p.Leu8799=) c.26384T= (p.Leu8795=) c.26381T= (p.Leu8794=) c.26378T= (p.Leu8793=) c.*201T= (n.*201T=) c.26534T= (p.Leu8845=) c.26522T= (p.Leu8841=) c.26372T= (p.Leu8791=) c.24812T= (p.Leu8271=) c.24305T= (p.Leu8102=) c.19772T= (p.Leu6591=) c.26510T= (p.Leu8837=) c.26459T= (p.Leu8820=) c.26423T= (p.Leu8808=) c.26270T= (p.Leu8757=) | |
6 | g.152122440A>C | CA4052571 | ESR1,SYNE1 | c.2924T>G (p.Leu975Arg) c.26390T>G (p.Leu8797Arg) c.26246T>G (p.Leu8749Arg) c.1733T>G c.2108T>G c.1975T>G c.2240T>G (n.2240T>G) c.25175T>G (p.Leu8392Arg) n.3138T>G c.5166T>G (n.5166T>G) n.10082T>G c.4269T>G (n.4269T>G) n.9974T>G c.851-2826A>C (n.851-2826A>C) n.3004T>G n.7027T>G c.2855T>G (p.Leu952Arg) c.26537T>G (p.Leu8846Arg) c.26525T>G (p.Leu8842Arg) c.26516T>G (p.Leu8839Arg) c.26495T>G (p.Leu8832Arg) c.26486T>G (p.Leu8829Arg) c.26480T>G (p.Leu8827Arg) c.26468T>G (p.Leu8823Arg) c.26465T>G (p.Leu8822Arg) c.26426T>G (p.Leu8809Arg) c.26411T>G (p.Leu8804Arg) c.26396T>G (p.Leu8799Arg) c.26384T>G (p.Leu8795Arg) c.26381T>G (p.Leu8794Arg) c.26378T>G (p.Leu8793Arg) c.*201T>G (n.*201T>G) c.26534T>G (p.Leu8845Arg) c.26522T>G (p.Leu8841Arg) c.26372T>G (p.Leu8791Arg) c.24812T>G (p.Leu8271Arg) c.24305T>G (p.Leu8102Arg) c.19772T>G (p.Leu6591Arg) c.26510T>G (p.Leu8837Arg) c.26459T>G (p.Leu8820Arg) c.26423T>G (p.Leu8808Arg) c.26270T>G (p.Leu8757Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122440A>G | CA366088415 | ESR1,SYNE1 | c.2924T>C (p.Leu975Pro) c.26390T>C (p.Leu8797Pro) c.26246T>C (p.Leu8749Pro) c.1733T>C c.2108T>C c.1975T>C c.2240T>C (n.2240T>C) c.25175T>C (p.Leu8392Pro) n.3138T>C c.5166T>C (n.5166T>C) n.10082T>C c.4269T>C (n.4269T>C) n.9974T>C c.851-2826A>G (n.851-2826A>G) n.3004T>C n.7027T>C c.2855T>C (p.Leu952Pro) c.26537T>C (p.Leu8846Pro) c.26525T>C (p.Leu8842Pro) c.26516T>C (p.Leu8839Pro) c.26495T>C (p.Leu8832Pro) c.26486T>C (p.Leu8829Pro) c.26480T>C (p.Leu8827Pro) c.26468T>C (p.Leu8823Pro) c.26465T>C (p.Leu8822Pro) c.26426T>C (p.Leu8809Pro) c.26411T>C (p.Leu8804Pro) c.26396T>C (p.Leu8799Pro) c.26384T>C (p.Leu8795Pro) c.26381T>C (p.Leu8794Pro) c.26378T>C (p.Leu8793Pro) c.*201T>C (n.*201T>C) c.26534T>C (p.Leu8845Pro) c.26522T>C (p.Leu8841Pro) c.26372T>C (p.Leu8791Pro) c.24812T>C (p.Leu8271Pro) c.24305T>C (p.Leu8102Pro) c.19772T>C (p.Leu6591Pro) c.26510T>C (p.Leu8837Pro) c.26459T>C (p.Leu8820Pro) c.26423T>C (p.Leu8808Pro) c.26270T>C (p.Leu8757Pro) | gnomAD v4 |
6 | g.152122440A>T | CA366088416 | ESR1,SYNE1 | c.2924T>A (p.Leu975His) c.26390T>A (p.Leu8797His) c.26246T>A (p.Leu8749His) c.1733T>A c.2108T>A c.1975T>A c.2240T>A (n.2240T>A) c.25175T>A (p.Leu8392His) n.3138T>A c.5166T>A (n.5166T>A) n.10082T>A c.4269T>A (n.4269T>A) n.9974T>A c.851-2826A>T (n.851-2826A>T) n.3004T>A n.7027T>A c.2855T>A (p.Leu952His) c.26537T>A (p.Leu8846His) c.26525T>A (p.Leu8842His) c.26516T>A (p.Leu8839His) c.26495T>A (p.Leu8832His) c.26486T>A (p.Leu8829His) c.26480T>A (p.Leu8827His) c.26468T>A (p.Leu8823His) c.26465T>A (p.Leu8822His) c.26426T>A (p.Leu8809His) c.26411T>A (p.Leu8804His) c.26396T>A (p.Leu8799His) c.26384T>A (p.Leu8795His) c.26381T>A (p.Leu8794His) c.26378T>A (p.Leu8793His) c.*201T>A (n.*201T>A) c.26534T>A (p.Leu8845His) c.26522T>A (p.Leu8841His) c.26372T>A (p.Leu8791His) c.24812T>A (p.Leu8271His) c.24305T>A (p.Leu8102His) c.19772T>A (p.Leu6591His) c.26510T>A (p.Leu8837His) c.26459T>A (p.Leu8820His) c.26423T>A (p.Leu8808His) c.26270T>A (p.Leu8757His) | |
6 | g.152122441G>A | CA4052572 | ESR1,SYNE1 | c.2923C>T (p.Leu975Phe) c.26389C>T (p.Leu8797Phe) c.26245C>T (p.Leu8749Phe) c.1732C>T c.2107C>T c.1974C>T c.2239C>T (n.2239C>T) c.25174C>T (p.Leu8392Phe) n.3137C>T c.5165C>T (n.5165C>T) n.10081C>T c.4268C>T (n.4268C>T) n.9973C>T c.851-2825G>A (n.851-2825G>A) n.3003C>T n.7026C>T c.2854C>T (p.Leu952Phe) c.26536C>T (p.Leu8846Phe) c.26524C>T (p.Leu8842Phe) c.26515C>T (p.Leu8839Phe) c.26494C>T (p.Leu8832Phe) c.26485C>T (p.Leu8829Phe) c.26479C>T (p.Leu8827Phe) c.26467C>T (p.Leu8823Phe) c.26464C>T (p.Leu8822Phe) c.26425C>T (p.Leu8809Phe) c.26410C>T (p.Leu8804Phe) c.26395C>T (p.Leu8799Phe) c.26383C>T (p.Leu8795Phe) c.26380C>T (p.Leu8794Phe) c.26377C>T (p.Leu8793Phe) c.*200C>T (n.*200C>T) c.26533C>T (p.Leu8845Phe) c.26521C>T (p.Leu8841Phe) c.26371C>T (p.Leu8791Phe) c.24811C>T (p.Leu8271Phe) c.24304C>T (p.Leu8102Phe) c.19771C>T (p.Leu6591Phe) c.26509C>T (p.Leu8837Phe) c.26458C>T (p.Leu8820Phe) c.26422C>T (p.Leu8808Phe) c.26269C>T (p.Leu8757Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122441G>C | CA366088417 | ESR1,SYNE1 | c.2923C>G (p.Leu975Val) c.26389C>G (p.Leu8797Val) c.26245C>G (p.Leu8749Val) c.1732C>G c.2107C>G c.1974C>G c.2239C>G (n.2239C>G) c.25174C>G (p.Leu8392Val) n.3137C>G c.5165C>G (n.5165C>G) n.10081C>G c.4268C>G (n.4268C>G) n.9973C>G c.851-2825G>C (n.851-2825G>C) n.3003C>G n.7026C>G c.2854C>G (p.Leu952Val) c.26536C>G (p.Leu8846Val) c.26524C>G (p.Leu8842Val) c.26515C>G (p.Leu8839Val) c.26494C>G (p.Leu8832Val) c.26485C>G (p.Leu8829Val) c.26479C>G (p.Leu8827Val) c.26467C>G (p.Leu8823Val) c.26464C>G (p.Leu8822Val) c.26425C>G (p.Leu8809Val) c.26410C>G (p.Leu8804Val) c.26395C>G (p.Leu8799Val) c.26383C>G (p.Leu8795Val) c.26380C>G (p.Leu8794Val) c.26377C>G (p.Leu8793Val) c.*200C>G (n.*200C>G) c.26533C>G (p.Leu8845Val) c.26521C>G (p.Leu8841Val) c.26371C>G (p.Leu8791Val) c.24811C>G (p.Leu8271Val) c.24304C>G (p.Leu8102Val) c.19771C>G (p.Leu6591Val) c.26509C>G (p.Leu8837Val) c.26458C>G (p.Leu8820Val) c.26422C>G (p.Leu8808Val) c.26269C>G (p.Leu8757Val) | |
6 | g.152122441G= | CA1673188688 | ESR1,SYNE1 | c.2923C= (p.Leu975=) c.26389C= (p.Leu8797=) c.26245C= (p.Leu8749=) c.1732C= c.2107C= c.1974C= c.2239C= (n.2239C=) c.25174C= (p.Leu8392=) n.3137C= c.5165C= (n.5165C=) n.10081C= c.4268C= (n.4268C=) n.9973C= c.851-2825G= (n.851-2825G=) n.3003C= n.7026C= c.2854C= (p.Leu952=) c.26536C= (p.Leu8846=) c.26524C= (p.Leu8842=) c.26515C= (p.Leu8839=) c.26494C= (p.Leu8832=) c.26485C= (p.Leu8829=) c.26479C= (p.Leu8827=) c.26467C= (p.Leu8823=) c.26464C= (p.Leu8822=) c.26425C= (p.Leu8809=) c.26410C= (p.Leu8804=) c.26395C= (p.Leu8799=) c.26383C= (p.Leu8795=) c.26380C= (p.Leu8794=) c.26377C= (p.Leu8793=) c.*200C= (n.*200C=) c.26533C= (p.Leu8845=) c.26521C= (p.Leu8841=) c.26371C= (p.Leu8791=) c.24811C= (p.Leu8271=) c.24304C= (p.Leu8102=) c.19771C= (p.Leu6591=) c.26509C= (p.Leu8837=) c.26458C= (p.Leu8820=) c.26422C= (p.Leu8808=) c.26269C= (p.Leu8757=) | |
6 | g.152122441G>T | CA366088418 | ESR1,SYNE1 | c.2923C>A (p.Leu975Ile) c.26389C>A (p.Leu8797Ile) c.26245C>A (p.Leu8749Ile) c.1732C>A c.2107C>A c.1974C>A c.2239C>A (n.2239C>A) c.25174C>A (p.Leu8392Ile) n.3137C>A c.5165C>A (n.5165C>A) n.10081C>A c.4268C>A (n.4268C>A) n.9973C>A c.851-2825G>T (n.851-2825G>T) n.3003C>A n.7026C>A c.2854C>A (p.Leu952Ile) c.26536C>A (p.Leu8846Ile) c.26524C>A (p.Leu8842Ile) c.26515C>A (p.Leu8839Ile) c.26494C>A (p.Leu8832Ile) c.26485C>A (p.Leu8829Ile) c.26479C>A (p.Leu8827Ile) c.26467C>A (p.Leu8823Ile) c.26464C>A (p.Leu8822Ile) c.26425C>A (p.Leu8809Ile) c.26410C>A (p.Leu8804Ile) c.26395C>A (p.Leu8799Ile) c.26383C>A (p.Leu8795Ile) c.26380C>A (p.Leu8794Ile) c.26377C>A (p.Leu8793Ile) c.*200C>A (n.*200C>A) c.26533C>A (p.Leu8845Ile) c.26521C>A (p.Leu8841Ile) c.26371C>A (p.Leu8791Ile) c.24811C>A (p.Leu8271Ile) c.24304C>A (p.Leu8102Ile) c.19771C>A (p.Leu6591Ile) c.26509C>A (p.Leu8837Ile) c.26458C>A (p.Leu8820Ile) c.26422C>A (p.Leu8808Ile) c.26269C>A (p.Leu8757Ile) | |
6 | g.152122442T>A | CA452969377 | ESR1,SYNE1 | c.2922A>T (p.Pro974=) c.26388A>T (p.Pro8796=) c.26244A>T (p.Pro8748=) c.1731A>T c.2106A>T c.1973A>T c.2238A>T (n.2238A>T) c.25173A>T (p.Pro8391=) n.3136A>T c.5164A>T (n.5164A>T) n.10080A>T c.4267A>T (n.4267A>T) n.9972A>T c.851-2824T>A (n.851-2824T>A) n.3002A>T n.7025A>T c.2853A>T (p.Pro951=) c.26535A>T (p.Pro8845=) c.26523A>T (p.Pro8841=) c.26514A>T (p.Pro8838=) c.26493A>T (p.Pro8831=) c.26484A>T (p.Pro8828=) c.26478A>T (p.Pro8826=) c.26466A>T (p.Pro8822=) c.26463A>T (p.Pro8821=) c.26424A>T (p.Pro8808=) c.26409A>T (p.Pro8803=) c.26394A>T (p.Pro8798=) c.26382A>T (p.Pro8794=) c.26379A>T (p.Pro8793=) c.26376A>T (p.Pro8792=) c.*199A>T (n.*199A>T) c.26532A>T (p.Pro8844=) c.26520A>T (p.Pro8840=) c.26370A>T (p.Pro8790=) c.24810A>T (p.Pro8270=) c.24303A>T (p.Pro8101=) c.19770A>T (p.Pro6590=) c.26508A>T (p.Pro8836=) c.26457A>T (p.Pro8819=) c.26421A>T (p.Pro8807=) c.26268A>T (p.Pro8756=) | |
6 | g.152122442T>C | CA452969382 | ESR1,SYNE1 | c.2922A>G (p.Pro974=) c.26388A>G (p.Pro8796=) c.26244A>G (p.Pro8748=) c.1731A>G c.2106A>G c.1973A>G c.2238A>G (n.2238A>G) c.25173A>G (p.Pro8391=) n.3136A>G c.5164A>G (n.5164A>G) n.10080A>G c.4267A>G (n.4267A>G) n.9972A>G c.851-2824T>C (n.851-2824T>C) n.3002A>G n.7025A>G c.2853A>G (p.Pro951=) c.26535A>G (p.Pro8845=) c.26523A>G (p.Pro8841=) c.26514A>G (p.Pro8838=) c.26493A>G (p.Pro8831=) c.26484A>G (p.Pro8828=) c.26478A>G (p.Pro8826=) c.26466A>G (p.Pro8822=) c.26463A>G (p.Pro8821=) c.26424A>G (p.Pro8808=) c.26409A>G (p.Pro8803=) c.26394A>G (p.Pro8798=) c.26382A>G (p.Pro8794=) c.26379A>G (p.Pro8793=) c.26376A>G (p.Pro8792=) c.*199A>G (n.*199A>G) c.26532A>G (p.Pro8844=) c.26520A>G (p.Pro8840=) c.26370A>G (p.Pro8790=) c.24810A>G (p.Pro8270=) c.24303A>G (p.Pro8101=) c.19770A>G (p.Pro6590=) c.26508A>G (p.Pro8836=) c.26457A>G (p.Pro8819=) c.26421A>G (p.Pro8807=) c.26268A>G (p.Pro8756=) | gnomAD v4 |
6 | g.152122442T>G | CA452969379 | ESR1,SYNE1 | c.2922A>C (p.Pro974=) c.26388A>C (p.Pro8796=) c.26244A>C (p.Pro8748=) c.1731A>C c.2106A>C c.1973A>C c.2238A>C (n.2238A>C) c.25173A>C (p.Pro8391=) n.3136A>C c.5164A>C (n.5164A>C) n.10080A>C c.4267A>C (n.4267A>C) n.9972A>C c.851-2824T>G (n.851-2824T>G) n.3002A>C n.7025A>C c.2853A>C (p.Pro951=) c.26535A>C (p.Pro8845=) c.26523A>C (p.Pro8841=) c.26514A>C (p.Pro8838=) c.26493A>C (p.Pro8831=) c.26484A>C (p.Pro8828=) c.26478A>C (p.Pro8826=) c.26466A>C (p.Pro8822=) c.26463A>C (p.Pro8821=) c.26424A>C (p.Pro8808=) c.26409A>C (p.Pro8803=) c.26394A>C (p.Pro8798=) c.26382A>C (p.Pro8794=) c.26379A>C (p.Pro8793=) c.26376A>C (p.Pro8792=) c.*199A>C (n.*199A>C) c.26532A>C (p.Pro8844=) c.26520A>C (p.Pro8840=) c.26370A>C (p.Pro8790=) c.24810A>C (p.Pro8270=) c.24303A>C (p.Pro8101=) c.19770A>C (p.Pro6590=) c.26508A>C (p.Pro8836=) c.26457A>C (p.Pro8819=) c.26421A>C (p.Pro8807=) c.26268A>C (p.Pro8756=) | |
6 | g.152122443G>A | CA366088419 | ESR1,SYNE1 | c.2921C>T (p.Pro974Leu) c.26387C>T (p.Pro8796Leu) c.26243C>T (p.Pro8748Leu) c.1730C>T c.2105C>T c.1972C>T c.2237C>T (n.2237C>T) c.25172C>T (p.Pro8391Leu) n.3135C>T c.5163C>T (n.5163C>T) n.10079C>T c.4266C>T (n.4266C>T) n.9971C>T c.851-2823G>A (n.851-2823G>A) n.3001C>T n.7024C>T c.2852C>T (p.Pro951Leu) c.26534C>T (p.Pro8845Leu) c.26522C>T (p.Pro8841Leu) c.26513C>T (p.Pro8838Leu) c.26492C>T (p.Pro8831Leu) c.26483C>T (p.Pro8828Leu) c.26477C>T (p.Pro8826Leu) c.26465C>T (p.Pro8822Leu) c.26462C>T (p.Pro8821Leu) c.26423C>T (p.Pro8808Leu) c.26408C>T (p.Pro8803Leu) c.26393C>T (p.Pro8798Leu) c.26381C>T (p.Pro8794Leu) c.26378C>T (p.Pro8793Leu) c.26375C>T (p.Pro8792Leu) c.*198C>T (n.*198C>T) c.26531C>T (p.Pro8844Leu) c.26519C>T (p.Pro8840Leu) c.26369C>T (p.Pro8790Leu) c.24809C>T (p.Pro8270Leu) c.24302C>T (p.Pro8101Leu) c.19769C>T (p.Pro6590Leu) c.26507C>T (p.Pro8836Leu) c.26456C>T (p.Pro8819Leu) c.26420C>T (p.Pro8807Leu) c.26267C>T (p.Pro8756Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122443G>C | CA366088420 | ESR1,SYNE1 | c.2921C>G (p.Pro974Arg) c.26387C>G (p.Pro8796Arg) c.26243C>G (p.Pro8748Arg) c.1730C>G c.2105C>G c.1972C>G c.2237C>G (n.2237C>G) c.25172C>G (p.Pro8391Arg) n.3135C>G c.5163C>G (n.5163C>G) n.10079C>G c.4266C>G (n.4266C>G) n.9971C>G c.851-2823G>C (n.851-2823G>C) n.3001C>G n.7024C>G c.2852C>G (p.Pro951Arg) c.26534C>G (p.Pro8845Arg) c.26522C>G (p.Pro8841Arg) c.26513C>G (p.Pro8838Arg) c.26492C>G (p.Pro8831Arg) c.26483C>G (p.Pro8828Arg) c.26477C>G (p.Pro8826Arg) c.26465C>G (p.Pro8822Arg) c.26462C>G (p.Pro8821Arg) c.26423C>G (p.Pro8808Arg) c.26408C>G (p.Pro8803Arg) c.26393C>G (p.Pro8798Arg) c.26381C>G (p.Pro8794Arg) c.26378C>G (p.Pro8793Arg) c.26375C>G (p.Pro8792Arg) c.*198C>G (n.*198C>G) c.26531C>G (p.Pro8844Arg) c.26519C>G (p.Pro8840Arg) c.26369C>G (p.Pro8790Arg) c.24809C>G (p.Pro8270Arg) c.24302C>G (p.Pro8101Arg) c.19769C>G (p.Pro6590Arg) c.26507C>G (p.Pro8836Arg) c.26456C>G (p.Pro8819Arg) c.26420C>G (p.Pro8807Arg) c.26267C>G (p.Pro8756Arg) | |
6 | g.152122443G= | CA1673188692 | ESR1,SYNE1 | c.2921C= (p.Pro974=) c.26387C= (p.Pro8796=) c.26243C= (p.Pro8748=) c.1730C= c.2105C= c.1972C= c.2237C= (n.2237C=) c.25172C= (p.Pro8391=) n.3135C= c.5163C= (n.5163C=) n.10079C= c.4266C= (n.4266C=) n.9971C= c.851-2823G= (n.851-2823G=) n.3001C= n.7024C= c.2852C= (p.Pro951=) c.26534C= (p.Pro8845=) c.26522C= (p.Pro8841=) c.26513C= (p.Pro8838=) c.26492C= (p.Pro8831=) c.26483C= (p.Pro8828=) c.26477C= (p.Pro8826=) c.26465C= (p.Pro8822=) c.26462C= (p.Pro8821=) c.26423C= (p.Pro8808=) c.26408C= (p.Pro8803=) c.26393C= (p.Pro8798=) c.26381C= (p.Pro8794=) c.26378C= (p.Pro8793=) c.26375C= (p.Pro8792=) c.*198C= (n.*198C=) c.26531C= (p.Pro8844=) c.26519C= (p.Pro8840=) c.26369C= (p.Pro8790=) c.24809C= (p.Pro8270=) c.24302C= (p.Pro8101=) c.19769C= (p.Pro6590=) c.26507C= (p.Pro8836=) c.26456C= (p.Pro8819=) c.26420C= (p.Pro8807=) c.26267C= (p.Pro8756=) | |
6 | g.152122443G>T | CA366088421 | ESR1,SYNE1 | c.2921C>A (p.Pro974Gln) c.26387C>A (p.Pro8796Gln) c.26243C>A (p.Pro8748Gln) c.1730C>A c.2105C>A c.1972C>A c.2237C>A (n.2237C>A) c.25172C>A (p.Pro8391Gln) n.3135C>A c.5163C>A (n.5163C>A) n.10079C>A c.4266C>A (n.4266C>A) n.9971C>A c.851-2823G>T (n.851-2823G>T) n.3001C>A n.7024C>A c.2852C>A (p.Pro951Gln) c.26534C>A (p.Pro8845Gln) c.26522C>A (p.Pro8841Gln) c.26513C>A (p.Pro8838Gln) c.26492C>A (p.Pro8831Gln) c.26483C>A (p.Pro8828Gln) c.26477C>A (p.Pro8826Gln) c.26465C>A (p.Pro8822Gln) c.26462C>A (p.Pro8821Gln) c.26423C>A (p.Pro8808Gln) c.26408C>A (p.Pro8803Gln) c.26393C>A (p.Pro8798Gln) c.26381C>A (p.Pro8794Gln) c.26378C>A (p.Pro8793Gln) c.26375C>A (p.Pro8792Gln) c.*198C>A (n.*198C>A) c.26531C>A (p.Pro8844Gln) c.26519C>A (p.Pro8840Gln) c.26369C>A (p.Pro8790Gln) c.24809C>A (p.Pro8270Gln) c.24302C>A (p.Pro8101Gln) c.19769C>A (p.Pro6590Gln) c.26507C>A (p.Pro8836Gln) c.26456C>A (p.Pro8819Gln) c.26420C>A (p.Pro8807Gln) c.26267C>A (p.Pro8756Gln) | |
6 | g.152122444G>A | CA366088423 | ESR1,SYNE1 | c.2920C>T (p.Pro974Ser) c.26386C>T (p.Pro8796Ser) c.26242C>T (p.Pro8748Ser) c.1729C>T c.2104C>T c.1971C>T c.2236C>T (n.2236C>T) c.25171C>T (p.Pro8391Ser) n.3134C>T c.5162C>T (n.5162C>T) n.10078C>T c.4265C>T (n.4265C>T) n.9970C>T c.851-2822G>A (n.851-2822G>A) n.3000C>T n.7023C>T c.2851C>T (p.Pro951Ser) c.26533C>T (p.Pro8845Ser) c.26521C>T (p.Pro8841Ser) c.26512C>T (p.Pro8838Ser) c.26491C>T (p.Pro8831Ser) c.26482C>T (p.Pro8828Ser) c.26476C>T (p.Pro8826Ser) c.26464C>T (p.Pro8822Ser) c.26461C>T (p.Pro8821Ser) c.26422C>T (p.Pro8808Ser) c.26407C>T (p.Pro8803Ser) c.26392C>T (p.Pro8798Ser) c.26380C>T (p.Pro8794Ser) c.26377C>T (p.Pro8793Ser) c.26374C>T (p.Pro8792Ser) c.*197C>T (n.*197C>T) c.26530C>T (p.Pro8844Ser) c.26518C>T (p.Pro8840Ser) c.26368C>T (p.Pro8790Ser) c.24808C>T (p.Pro8270Ser) c.24301C>T (p.Pro8101Ser) c.19768C>T (p.Pro6590Ser) c.26506C>T (p.Pro8836Ser) c.26455C>T (p.Pro8819Ser) c.26419C>T (p.Pro8807Ser) c.26266C>T (p.Pro8756Ser) | gnomAD v4 |
6 | g.152122444G>C | CA366088424 | ESR1,SYNE1 | c.2920C>G (p.Pro974Ala) c.26386C>G (p.Pro8796Ala) c.26242C>G (p.Pro8748Ala) c.1729C>G c.2104C>G c.1971C>G c.2236C>G (n.2236C>G) c.25171C>G (p.Pro8391Ala) n.3134C>G c.5162C>G (n.5162C>G) n.10078C>G c.4265C>G (n.4265C>G) n.9970C>G c.851-2822G>C (n.851-2822G>C) n.3000C>G n.7023C>G c.2851C>G (p.Pro951Ala) c.26533C>G (p.Pro8845Ala) c.26521C>G (p.Pro8841Ala) c.26512C>G (p.Pro8838Ala) c.26491C>G (p.Pro8831Ala) c.26482C>G (p.Pro8828Ala) c.26476C>G (p.Pro8826Ala) c.26464C>G (p.Pro8822Ala) c.26461C>G (p.Pro8821Ala) c.26422C>G (p.Pro8808Ala) c.26407C>G (p.Pro8803Ala) c.26392C>G (p.Pro8798Ala) c.26380C>G (p.Pro8794Ala) c.26377C>G (p.Pro8793Ala) c.26374C>G (p.Pro8792Ala) c.*197C>G (n.*197C>G) c.26530C>G (p.Pro8844Ala) c.26518C>G (p.Pro8840Ala) c.26368C>G (p.Pro8790Ala) c.24808C>G (p.Pro8270Ala) c.24301C>G (p.Pro8101Ala) c.19768C>G (p.Pro6590Ala) c.26506C>G (p.Pro8836Ala) c.26455C>G (p.Pro8819Ala) c.26419C>G (p.Pro8807Ala) c.26266C>G (p.Pro8756Ala) | |
6 | g.152122444G= | CA1673188705 | ESR1,SYNE1 | c.2920C= (p.Pro974=) c.26386C= (p.Pro8796=) c.26242C= (p.Pro8748=) c.1729C= c.2104C= c.1971C= c.2236C= (n.2236C=) c.25171C= (p.Pro8391=) n.3134C= c.5162C= (n.5162C=) n.10078C= c.4265C= (n.4265C=) n.9970C= c.851-2822G= (n.851-2822G=) n.3000C= n.7023C= c.2851C= (p.Pro951=) c.26533C= (p.Pro8845=) c.26521C= (p.Pro8841=) c.26512C= (p.Pro8838=) c.26491C= (p.Pro8831=) c.26482C= (p.Pro8828=) c.26476C= (p.Pro8826=) c.26464C= (p.Pro8822=) c.26461C= (p.Pro8821=) c.26422C= (p.Pro8808=) c.26407C= (p.Pro8803=) c.26392C= (p.Pro8798=) c.26380C= (p.Pro8794=) c.26377C= (p.Pro8793=) c.26374C= (p.Pro8792=) c.*197C= (n.*197C=) c.26530C= (p.Pro8844=) c.26518C= (p.Pro8840=) c.26368C= (p.Pro8790=) c.24808C= (p.Pro8270=) c.24301C= (p.Pro8101=) c.19768C= (p.Pro6590=) c.26506C= (p.Pro8836=) c.26455C= (p.Pro8819=) c.26419C= (p.Pro8807=) c.26266C= (p.Pro8756=) | |
6 | g.152122444G>T | CA366088422 | ESR1,SYNE1 | c.2920C>A (p.Pro974Thr) c.26386C>A (p.Pro8796Thr) c.26242C>A (p.Pro8748Thr) c.1729C>A c.2104C>A c.1971C>A c.2236C>A (n.2236C>A) c.25171C>A (p.Pro8391Thr) n.3134C>A c.5162C>A (n.5162C>A) n.10078C>A c.4265C>A (n.4265C>A) n.9970C>A c.851-2822G>T (n.851-2822G>T) n.3000C>A n.7023C>A c.2851C>A (p.Pro951Thr) c.26533C>A (p.Pro8845Thr) c.26521C>A (p.Pro8841Thr) c.26512C>A (p.Pro8838Thr) c.26491C>A (p.Pro8831Thr) c.26482C>A (p.Pro8828Thr) c.26476C>A (p.Pro8826Thr) c.26464C>A (p.Pro8822Thr) c.26461C>A (p.Pro8821Thr) c.26422C>A (p.Pro8808Thr) c.26407C>A (p.Pro8803Thr) c.26392C>A (p.Pro8798Thr) c.26380C>A (p.Pro8794Thr) c.26377C>A (p.Pro8793Thr) c.26374C>A (p.Pro8792Thr) c.*197C>A (n.*197C>A) c.26530C>A (p.Pro8844Thr) c.26518C>A (p.Pro8840Thr) c.26368C>A (p.Pro8790Thr) c.24808C>A (p.Pro8270Thr) c.24301C>A (p.Pro8101Thr) c.19768C>A (p.Pro6590Thr) c.26506C>A (p.Pro8836Thr) c.26455C>A (p.Pro8819Thr) c.26419C>A (p.Pro8807Thr) c.26266C>A (p.Pro8756Thr) | gnomAD v4 |
6 | g.152122445A>C | CA452969394 | ESR1,SYNE1 | c.2919T>G (p.Pro973=) c.26385T>G (p.Pro8795=) c.26241T>G (p.Pro8747=) c.1728T>G c.2103T>G c.1970T>G c.2235T>G (n.2235T>G) c.25170T>G (p.Pro8390=) n.3133T>G c.5161T>G (n.5161T>G) n.10077T>G c.4264T>G (n.4264T>G) n.9969T>G c.851-2821A>C (n.851-2821A>C) n.2999T>G n.7022T>G c.2850T>G (p.Pro950=) c.26532T>G (p.Pro8844=) c.26520T>G (p.Pro8840=) c.26511T>G (p.Pro8837=) c.26490T>G (p.Pro8830=) c.26481T>G (p.Pro8827=) c.26475T>G (p.Pro8825=) c.26463T>G (p.Pro8821=) c.26460T>G (p.Pro8820=) c.26421T>G (p.Pro8807=) c.26406T>G (p.Pro8802=) c.26391T>G (p.Pro8797=) c.26379T>G (p.Pro8793=) c.26376T>G (p.Pro8792=) c.26373T>G (p.Pro8791=) c.*196T>G (n.*196T>G) c.26529T>G (p.Pro8843=) c.26517T>G (p.Pro8839=) c.26367T>G (p.Pro8789=) c.24807T>G (p.Pro8269=) c.24300T>G (p.Pro8100=) c.19767T>G (p.Pro6589=) c.26505T>G (p.Pro8835=) c.26454T>G (p.Pro8818=) c.26418T>G (p.Pro8806=) c.26265T>G (p.Pro8755=) | |
6 | g.152122445A>G | CA452969396 | ESR1,SYNE1 | c.2919T>C (p.Pro973=) c.26385T>C (p.Pro8795=) c.26241T>C (p.Pro8747=) c.1728T>C c.2103T>C c.1970T>C c.2235T>C (n.2235T>C) c.25170T>C (p.Pro8390=) n.3133T>C c.5161T>C (n.5161T>C) n.10077T>C c.4264T>C (n.4264T>C) n.9969T>C c.851-2821A>G (n.851-2821A>G) n.2999T>C n.7022T>C c.2850T>C (p.Pro950=) c.26532T>C (p.Pro8844=) c.26520T>C (p.Pro8840=) c.26511T>C (p.Pro8837=) c.26490T>C (p.Pro8830=) c.26481T>C (p.Pro8827=) c.26475T>C (p.Pro8825=) c.26463T>C (p.Pro8821=) c.26460T>C (p.Pro8820=) c.26421T>C (p.Pro8807=) c.26406T>C (p.Pro8802=) c.26391T>C (p.Pro8797=) c.26379T>C (p.Pro8793=) c.26376T>C (p.Pro8792=) c.26373T>C (p.Pro8791=) c.*196T>C (n.*196T>C) c.26529T>C (p.Pro8843=) c.26517T>C (p.Pro8839=) c.26367T>C (p.Pro8789=) c.24807T>C (p.Pro8269=) c.24300T>C (p.Pro8100=) c.19767T>C (p.Pro6589=) c.26505T>C (p.Pro8835=) c.26454T>C (p.Pro8818=) c.26418T>C (p.Pro8806=) c.26265T>C (p.Pro8755=) | |
6 | g.152122445A>T | CA452969398 | ESR1,SYNE1 | c.2919T>A (p.Pro973=) c.26385T>A (p.Pro8795=) c.26241T>A (p.Pro8747=) c.1728T>A c.2103T>A c.1970T>A c.2235T>A (n.2235T>A) c.25170T>A (p.Pro8390=) n.3133T>A c.5161T>A (n.5161T>A) n.10077T>A c.4264T>A (n.4264T>A) n.9969T>A c.851-2821A>T (n.851-2821A>T) n.2999T>A n.7022T>A c.2850T>A (p.Pro950=) c.26532T>A (p.Pro8844=) c.26520T>A (p.Pro8840=) c.26511T>A (p.Pro8837=) c.26490T>A (p.Pro8830=) c.26481T>A (p.Pro8827=) c.26475T>A (p.Pro8825=) c.26463T>A (p.Pro8821=) c.26460T>A (p.Pro8820=) c.26421T>A (p.Pro8807=) c.26406T>A (p.Pro8802=) c.26391T>A (p.Pro8797=) c.26379T>A (p.Pro8793=) c.26376T>A (p.Pro8792=) c.26373T>A (p.Pro8791=) c.*196T>A (n.*196T>A) c.26529T>A (p.Pro8843=) c.26517T>A (p.Pro8839=) c.26367T>A (p.Pro8789=) c.24807T>A (p.Pro8269=) c.24300T>A (p.Pro8100=) c.19767T>A (p.Pro6589=) c.26505T>A (p.Pro8835=) c.26454T>A (p.Pro8818=) c.26418T>A (p.Pro8806=) c.26265T>A (p.Pro8755=) | |
6 | g.152122445_152122446insCCA | CA571437290 | ESR1,SYNE1 | c.2919_2920insGGT (p.Pro973_Pro974insGly) c.26385_26386insGGT (p.Pro8795_Pro8796insGly) c.26241_26242insGGT (p.Pro8747_Pro8748insGly) c.1728_1729insGGT c.2103_2104insGGT c.1970_1971insGGT c.2235_2236insGGT (n.2235_2236insGGT) c.25170_25171insGGT (p.Pro8390_Pro8391insGly) n.3133_3134insGGT c.5161_5162insGGT (n.5161_5162insGGT) n.10077_10078insGGT c.4264_4265insGGT (n.4264_4265insGGT) n.9969_9970insGGT c.851-2821_851-2820insCCA (n.851-2821_851-2820insCCA) n.2999_3000insGGT n.7022_7023insGGT c.2850_2851insGGT (p.Pro950_Pro951insGly) c.26532_26533insGGT (p.Pro8844_Pro8845insGly) c.26520_26521insGGT (p.Pro8840_Pro8841insGly) c.26511_26512insGGT (p.Pro8837_Pro8838insGly) c.26490_26491insGGT (p.Pro8830_Pro8831insGly) c.26481_26482insGGT (p.Pro8827_Pro8828insGly) c.26475_26476insGGT (p.Pro8825_Pro8826insGly) c.26463_26464insGGT (p.Pro8821_Pro8822insGly) c.26460_26461insGGT (p.Pro8820_Pro8821insGly) c.26421_26422insGGT (p.Pro8807_Pro8808insGly) c.26406_26407insGGT (p.Pro8802_Pro8803insGly) c.26391_26392insGGT (p.Pro8797_Pro8798insGly) c.26379_26380insGGT (p.Pro8793_Pro8794insGly) c.26376_26377insGGT (p.Pro8792_Pro8793insGly) c.26373_26374insGGT (p.Pro8791_Pro8792insGly) c.*196_*197insGGT (n.*196_*197insGGT) c.26529_26530insGGT (p.Pro8843_Pro8844insGly) c.26517_26518insGGT (p.Pro8839_Pro8840insGly) c.26367_26368insGGT (p.Pro8789_Pro8790insGly) c.24807_24808insGGT (p.Pro8269_Pro8270insGly) c.24300_24301insGGT (p.Pro8100_Pro8101insGly) c.19767_19768insGGT (p.Pro6589_Pro6590insGly) c.26505_26506insGGT (p.Pro8835_Pro8836insGly) c.26454_26455insGGT (p.Pro8818_Pro8819insGly) c.26418_26419insGGT (p.Pro8806_Pro8807insGly) c.26265_26266insGGT (p.Pro8755_Pro8756insGly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122446G>A | CA366088426 | ESR1,SYNE1 | c.2918C>T (p.Pro973Leu) c.26384C>T (p.Pro8795Leu) c.26240C>T (p.Pro8747Leu) c.1727C>T c.2102C>T c.1969C>T c.2234C>T (n.2234C>T) c.25169C>T (p.Pro8390Leu) n.3132C>T c.5160C>T (n.5160C>T) n.10076C>T c.4263C>T (n.4263C>T) n.9968C>T c.851-2820G>A (n.851-2820G>A) n.2998C>T n.7021C>T c.2849C>T (p.Pro950Leu) c.26531C>T (p.Pro8844Leu) c.26519C>T (p.Pro8840Leu) c.26510C>T (p.Pro8837Leu) c.26489C>T (p.Pro8830Leu) c.26480C>T (p.Pro8827Leu) c.26474C>T (p.Pro8825Leu) c.26462C>T (p.Pro8821Leu) c.26459C>T (p.Pro8820Leu) c.26420C>T (p.Pro8807Leu) c.26405C>T (p.Pro8802Leu) c.26390C>T (p.Pro8797Leu) c.26378C>T (p.Pro8793Leu) c.26375C>T (p.Pro8792Leu) c.26372C>T (p.Pro8791Leu) c.*195C>T (n.*195C>T) c.26528C>T (p.Pro8843Leu) c.26516C>T (p.Pro8839Leu) c.26366C>T (p.Pro8789Leu) c.24806C>T (p.Pro8269Leu) c.24299C>T (p.Pro8100Leu) c.19766C>T (p.Pro6589Leu) c.26504C>T (p.Pro8835Leu) c.26453C>T (p.Pro8818Leu) c.26417C>T (p.Pro8806Leu) c.26264C>T (p.Pro8755Leu) | ClinVar gnomAD v4 |
6 | g.152122446G>C | CA366088425 | ESR1,SYNE1 | c.2918C>G (p.Pro973Arg) c.26384C>G (p.Pro8795Arg) c.26240C>G (p.Pro8747Arg) c.1727C>G c.2102C>G c.1969C>G c.2234C>G (n.2234C>G) c.25169C>G (p.Pro8390Arg) n.3132C>G c.5160C>G (n.5160C>G) n.10076C>G c.4263C>G (n.4263C>G) n.9968C>G c.851-2820G>C (n.851-2820G>C) n.2998C>G n.7021C>G c.2849C>G (p.Pro950Arg) c.26531C>G (p.Pro8844Arg) c.26519C>G (p.Pro8840Arg) c.26510C>G (p.Pro8837Arg) c.26489C>G (p.Pro8830Arg) c.26480C>G (p.Pro8827Arg) c.26474C>G (p.Pro8825Arg) c.26462C>G (p.Pro8821Arg) c.26459C>G (p.Pro8820Arg) c.26420C>G (p.Pro8807Arg) c.26405C>G (p.Pro8802Arg) c.26390C>G (p.Pro8797Arg) c.26378C>G (p.Pro8793Arg) c.26375C>G (p.Pro8792Arg) c.26372C>G (p.Pro8791Arg) c.*195C>G (n.*195C>G) c.26528C>G (p.Pro8843Arg) c.26516C>G (p.Pro8839Arg) c.26366C>G (p.Pro8789Arg) c.24806C>G (p.Pro8269Arg) c.24299C>G (p.Pro8100Arg) c.19766C>G (p.Pro6589Arg) c.26504C>G (p.Pro8835Arg) c.26453C>G (p.Pro8818Arg) c.26417C>G (p.Pro8806Arg) c.26264C>G (p.Pro8755Arg) | gnomAD v4 |
6 | g.152122446G>T | CA366088427 | ESR1,SYNE1 | c.2918C>A (p.Pro973His) c.26384C>A (p.Pro8795His) c.26240C>A (p.Pro8747His) c.1727C>A c.2102C>A c.1969C>A c.2234C>A (n.2234C>A) c.25169C>A (p.Pro8390His) n.3132C>A c.5160C>A (n.5160C>A) n.10076C>A c.4263C>A (n.4263C>A) n.9968C>A c.851-2820G>T (n.851-2820G>T) n.2998C>A n.7021C>A c.2849C>A (p.Pro950His) c.26531C>A (p.Pro8844His) c.26519C>A (p.Pro8840His) c.26510C>A (p.Pro8837His) c.26489C>A (p.Pro8830His) c.26480C>A (p.Pro8827His) c.26474C>A (p.Pro8825His) c.26462C>A (p.Pro8821His) c.26459C>A (p.Pro8820His) c.26420C>A (p.Pro8807His) c.26405C>A (p.Pro8802His) c.26390C>A (p.Pro8797His) c.26378C>A (p.Pro8793His) c.26375C>A (p.Pro8792His) c.26372C>A (p.Pro8791His) c.*195C>A (n.*195C>A) c.26528C>A (p.Pro8843His) c.26516C>A (p.Pro8839His) c.26366C>A (p.Pro8789His) c.24806C>A (p.Pro8269His) c.24299C>A (p.Pro8100His) c.19766C>A (p.Pro6589His) c.26504C>A (p.Pro8835His) c.26453C>A (p.Pro8818His) c.26417C>A (p.Pro8806His) c.26264C>A (p.Pro8755His) | |
6 | g.152122447G>A | CA366088428 | ESR1,SYNE1 | c.2917C>T (p.Pro973Ser) c.26383C>T (p.Pro8795Ser) c.26239C>T (p.Pro8747Ser) c.1726C>T c.2101C>T c.1968C>T c.2233C>T (n.2233C>T) c.25168C>T (p.Pro8390Ser) n.3131C>T c.5159C>T (n.5159C>T) n.10075C>T c.4262C>T (n.4262C>T) n.9967C>T c.851-2819G>A (n.851-2819G>A) n.2997C>T n.7020C>T c.2848C>T (p.Pro950Ser) c.26530C>T (p.Pro8844Ser) c.26518C>T (p.Pro8840Ser) c.26509C>T (p.Pro8837Ser) c.26488C>T (p.Pro8830Ser) c.26479C>T (p.Pro8827Ser) c.26473C>T (p.Pro8825Ser) c.26461C>T (p.Pro8821Ser) c.26458C>T (p.Pro8820Ser) c.26419C>T (p.Pro8807Ser) c.26404C>T (p.Pro8802Ser) c.26389C>T (p.Pro8797Ser) c.26377C>T (p.Pro8793Ser) c.26374C>T (p.Pro8792Ser) c.26371C>T (p.Pro8791Ser) c.*194C>T (n.*194C>T) c.26527C>T (p.Pro8843Ser) c.26515C>T (p.Pro8839Ser) c.26365C>T (p.Pro8789Ser) c.24805C>T (p.Pro8269Ser) c.24298C>T (p.Pro8100Ser) c.19765C>T (p.Pro6589Ser) c.26503C>T (p.Pro8835Ser) c.26452C>T (p.Pro8818Ser) c.26416C>T (p.Pro8806Ser) c.26263C>T (p.Pro8755Ser) | |
6 | g.152122447G>C | CA366088430 | ESR1,SYNE1 | c.2917C>G (p.Pro973Ala) c.26383C>G (p.Pro8795Ala) c.26239C>G (p.Pro8747Ala) c.1726C>G c.2101C>G c.1968C>G c.2233C>G (n.2233C>G) c.25168C>G (p.Pro8390Ala) n.3131C>G c.5159C>G (n.5159C>G) n.10075C>G c.4262C>G (n.4262C>G) n.9967C>G c.851-2819G>C (n.851-2819G>C) n.2997C>G n.7020C>G c.2848C>G (p.Pro950Ala) c.26530C>G (p.Pro8844Ala) c.26518C>G (p.Pro8840Ala) c.26509C>G (p.Pro8837Ala) c.26488C>G (p.Pro8830Ala) c.26479C>G (p.Pro8827Ala) c.26473C>G (p.Pro8825Ala) c.26461C>G (p.Pro8821Ala) c.26458C>G (p.Pro8820Ala) c.26419C>G (p.Pro8807Ala) c.26404C>G (p.Pro8802Ala) c.26389C>G (p.Pro8797Ala) c.26377C>G (p.Pro8793Ala) c.26374C>G (p.Pro8792Ala) c.26371C>G (p.Pro8791Ala) c.*194C>G (n.*194C>G) c.26527C>G (p.Pro8843Ala) c.26515C>G (p.Pro8839Ala) c.26365C>G (p.Pro8789Ala) c.24805C>G (p.Pro8269Ala) c.24298C>G (p.Pro8100Ala) c.19765C>G (p.Pro6589Ala) c.26503C>G (p.Pro8835Ala) c.26452C>G (p.Pro8818Ala) c.26416C>G (p.Pro8806Ala) c.26263C>G (p.Pro8755Ala) | |
6 | g.152122447G>T | CA366088429 | ESR1,SYNE1 | c.2917C>A (p.Pro973Thr) c.26383C>A (p.Pro8795Thr) c.26239C>A (p.Pro8747Thr) c.1726C>A c.2101C>A c.1968C>A c.2233C>A (n.2233C>A) c.25168C>A (p.Pro8390Thr) n.3131C>A c.5159C>A (n.5159C>A) n.10075C>A c.4262C>A (n.4262C>A) n.9967C>A c.851-2819G>T (n.851-2819G>T) n.2997C>A n.7020C>A c.2848C>A (p.Pro950Thr) c.26530C>A (p.Pro8844Thr) c.26518C>A (p.Pro8840Thr) c.26509C>A (p.Pro8837Thr) c.26488C>A (p.Pro8830Thr) c.26479C>A (p.Pro8827Thr) c.26473C>A (p.Pro8825Thr) c.26461C>A (p.Pro8821Thr) c.26458C>A (p.Pro8820Thr) c.26419C>A (p.Pro8807Thr) c.26404C>A (p.Pro8802Thr) c.26389C>A (p.Pro8797Thr) c.26377C>A (p.Pro8793Thr) c.26374C>A (p.Pro8792Thr) c.26371C>A (p.Pro8791Thr) c.*194C>A (n.*194C>A) c.26527C>A (p.Pro8843Thr) c.26515C>A (p.Pro8839Thr) c.26365C>A (p.Pro8789Thr) c.24805C>A (p.Pro8269Thr) c.24298C>A (p.Pro8100Thr) c.19765C>A (p.Pro6589Thr) c.26503C>A (p.Pro8835Thr) c.26452C>A (p.Pro8818Thr) c.26416C>A (p.Pro8806Thr) c.26263C>A (p.Pro8755Thr) | |
6 | g.152122448A>C | CA452969407 | ESR1,SYNE1 | c.2916T>G (p.Pro972=) c.26382T>G (p.Pro8794=) c.26238T>G (p.Pro8746=) c.1725T>G c.2100T>G c.1967T>G c.2232T>G (n.2232T>G) c.25167T>G (p.Pro8389=) n.3130T>G c.5158T>G (n.5158T>G) n.10074T>G c.4261T>G (n.4261T>G) n.9966T>G c.851-2818A>C (n.851-2818A>C) n.2996T>G n.7019T>G c.2847T>G (p.Pro949=) c.26529T>G (p.Pro8843=) c.26517T>G (p.Pro8839=) c.26508T>G (p.Pro8836=) c.26487T>G (p.Pro8829=) c.26478T>G (p.Pro8826=) c.26472T>G (p.Pro8824=) c.26460T>G (p.Pro8820=) c.26457T>G (p.Pro8819=) c.26418T>G (p.Pro8806=) c.26403T>G (p.Pro8801=) c.26388T>G (p.Pro8796=) c.26376T>G (p.Pro8792=) c.26373T>G (p.Pro8791=) c.26370T>G (p.Pro8790=) c.*193T>G (n.*193T>G) c.26526T>G (p.Pro8842=) c.26514T>G (p.Pro8838=) c.26364T>G (p.Pro8788=) c.24804T>G (p.Pro8268=) c.24297T>G (p.Pro8099=) c.19764T>G (p.Pro6588=) c.26502T>G (p.Pro8834=) c.26451T>G (p.Pro8817=) c.26415T>G (p.Pro8805=) c.26262T>G (p.Pro8754=) | |
6 | g.152122448A>G | CA452969411 | ESR1,SYNE1 | c.2916T>C (p.Pro972=) c.26382T>C (p.Pro8794=) c.26238T>C (p.Pro8746=) c.1725T>C c.2100T>C c.1967T>C c.2232T>C (n.2232T>C) c.25167T>C (p.Pro8389=) n.3130T>C c.5158T>C (n.5158T>C) n.10074T>C c.4261T>C (n.4261T>C) n.9966T>C c.851-2818A>G (n.851-2818A>G) n.2996T>C n.7019T>C c.2847T>C (p.Pro949=) c.26529T>C (p.Pro8843=) c.26517T>C (p.Pro8839=) c.26508T>C (p.Pro8836=) c.26487T>C (p.Pro8829=) c.26478T>C (p.Pro8826=) c.26472T>C (p.Pro8824=) c.26460T>C (p.Pro8820=) c.26457T>C (p.Pro8819=) c.26418T>C (p.Pro8806=) c.26403T>C (p.Pro8801=) c.26388T>C (p.Pro8796=) c.26376T>C (p.Pro8792=) c.26373T>C (p.Pro8791=) c.26370T>C (p.Pro8790=) c.*193T>C (n.*193T>C) c.26526T>C (p.Pro8842=) c.26514T>C (p.Pro8838=) c.26364T>C (p.Pro8788=) c.24804T>C (p.Pro8268=) c.24297T>C (p.Pro8099=) c.19764T>C (p.Pro6588=) c.26502T>C (p.Pro8834=) c.26451T>C (p.Pro8817=) c.26415T>C (p.Pro8805=) c.26262T>C (p.Pro8754=) | gnomAD v4 |
6 | g.152122448A>T | CA452969413 | ESR1,SYNE1 | c.2916T>A (p.Pro972=) c.26382T>A (p.Pro8794=) c.26238T>A (p.Pro8746=) c.1725T>A c.2100T>A c.1967T>A c.2232T>A (n.2232T>A) c.25167T>A (p.Pro8389=) n.3130T>A c.5158T>A (n.5158T>A) n.10074T>A c.4261T>A (n.4261T>A) n.9966T>A c.851-2818A>T (n.851-2818A>T) n.2996T>A n.7019T>A c.2847T>A (p.Pro949=) c.26529T>A (p.Pro8843=) c.26517T>A (p.Pro8839=) c.26508T>A (p.Pro8836=) c.26487T>A (p.Pro8829=) c.26478T>A (p.Pro8826=) c.26472T>A (p.Pro8824=) c.26460T>A (p.Pro8820=) c.26457T>A (p.Pro8819=) c.26418T>A (p.Pro8806=) c.26403T>A (p.Pro8801=) c.26388T>A (p.Pro8796=) c.26376T>A (p.Pro8792=) c.26373T>A (p.Pro8791=) c.26370T>A (p.Pro8790=) c.*193T>A (n.*193T>A) c.26526T>A (p.Pro8842=) c.26514T>A (p.Pro8838=) c.26364T>A (p.Pro8788=) c.24804T>A (p.Pro8268=) c.24297T>A (p.Pro8099=) c.19764T>A (p.Pro6588=) c.26502T>A (p.Pro8834=) c.26451T>A (p.Pro8817=) c.26415T>A (p.Pro8805=) c.26262T>A (p.Pro8754=) | |
6 | g.152122449G>A | CA366088431 | ESR1,SYNE1 | c.2915C>T (p.Pro972Leu) c.26381C>T (p.Pro8794Leu) c.26237C>T (p.Pro8746Leu) c.1724C>T c.2099C>T c.1966C>T c.2231C>T (n.2231C>T) c.25166C>T (p.Pro8389Leu) n.3129C>T c.5157C>T (n.5157C>T) n.10073C>T c.4260C>T (n.4260C>T) n.9965C>T c.851-2817G>A (n.851-2817G>A) n.2995C>T n.7018C>T c.2846C>T (p.Pro949Leu) c.26528C>T (p.Pro8843Leu) c.26516C>T (p.Pro8839Leu) c.26507C>T (p.Pro8836Leu) c.26486C>T (p.Pro8829Leu) c.26477C>T (p.Pro8826Leu) c.26471C>T (p.Pro8824Leu) c.26459C>T (p.Pro8820Leu) c.26456C>T (p.Pro8819Leu) c.26417C>T (p.Pro8806Leu) c.26402C>T (p.Pro8801Leu) c.26387C>T (p.Pro8796Leu) c.26375C>T (p.Pro8792Leu) c.26372C>T (p.Pro8791Leu) c.26369C>T (p.Pro8790Leu) c.*192C>T (n.*192C>T) c.26525C>T (p.Pro8842Leu) c.26513C>T (p.Pro8838Leu) c.26363C>T (p.Pro8788Leu) c.24803C>T (p.Pro8268Leu) c.24296C>T (p.Pro8099Leu) c.19763C>T (p.Pro6588Leu) c.26501C>T (p.Pro8834Leu) c.26450C>T (p.Pro8817Leu) c.26414C>T (p.Pro8805Leu) c.26261C>T (p.Pro8754Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122449G>C | CA4052573 | ESR1,SYNE1 | c.2915C>G (p.Pro972Arg) c.26381C>G (p.Pro8794Arg) c.26237C>G (p.Pro8746Arg) c.1724C>G c.2099C>G c.1966C>G c.2231C>G (n.2231C>G) c.25166C>G (p.Pro8389Arg) n.3129C>G c.5157C>G (n.5157C>G) n.10073C>G c.4260C>G (n.4260C>G) n.9965C>G c.851-2817G>C (n.851-2817G>C) n.2995C>G n.7018C>G c.2846C>G (p.Pro949Arg) c.26528C>G (p.Pro8843Arg) c.26516C>G (p.Pro8839Arg) c.26507C>G (p.Pro8836Arg) c.26486C>G (p.Pro8829Arg) c.26477C>G (p.Pro8826Arg) c.26471C>G (p.Pro8824Arg) c.26459C>G (p.Pro8820Arg) c.26456C>G (p.Pro8819Arg) c.26417C>G (p.Pro8806Arg) c.26402C>G (p.Pro8801Arg) c.26387C>G (p.Pro8796Arg) c.26375C>G (p.Pro8792Arg) c.26372C>G (p.Pro8791Arg) c.26369C>G (p.Pro8790Arg) c.*192C>G (n.*192C>G) c.26525C>G (p.Pro8842Arg) c.26513C>G (p.Pro8838Arg) c.26363C>G (p.Pro8788Arg) c.24803C>G (p.Pro8268Arg) c.24296C>G (p.Pro8099Arg) c.19763C>G (p.Pro6588Arg) c.26501C>G (p.Pro8834Arg) c.26450C>G (p.Pro8817Arg) c.26414C>G (p.Pro8805Arg) c.26261C>G (p.Pro8754Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122449G= | CA1673188713 | ESR1,SYNE1 | c.2915C= (p.Pro972=) c.26381C= (p.Pro8794=) c.26237C= (p.Pro8746=) c.1724C= c.2099C= c.1966C= c.2231C= (n.2231C=) c.25166C= (p.Pro8389=) n.3129C= c.5157C= (n.5157C=) n.10073C= c.4260C= (n.4260C=) n.9965C= c.851-2817G= (n.851-2817G=) n.2995C= n.7018C= c.2846C= (p.Pro949=) c.26528C= (p.Pro8843=) c.26516C= (p.Pro8839=) c.26507C= (p.Pro8836=) c.26486C= (p.Pro8829=) c.26477C= (p.Pro8826=) c.26471C= (p.Pro8824=) c.26459C= (p.Pro8820=) c.26456C= (p.Pro8819=) c.26417C= (p.Pro8806=) c.26402C= (p.Pro8801=) c.26387C= (p.Pro8796=) c.26375C= (p.Pro8792=) c.26372C= (p.Pro8791=) c.26369C= (p.Pro8790=) c.*192C= (n.*192C=) c.26525C= (p.Pro8842=) c.26513C= (p.Pro8838=) c.26363C= (p.Pro8788=) c.24803C= (p.Pro8268=) c.24296C= (p.Pro8099=) c.19763C= (p.Pro6588=) c.26501C= (p.Pro8834=) c.26450C= (p.Pro8817=) c.26414C= (p.Pro8805=) c.26261C= (p.Pro8754=) | |
6 | g.152122449G>T | CA366088432 | ESR1,SYNE1 | c.2915C>A (p.Pro972His) c.26381C>A (p.Pro8794His) c.26237C>A (p.Pro8746His) c.1724C>A c.2099C>A c.1966C>A c.2231C>A (n.2231C>A) c.25166C>A (p.Pro8389His) n.3129C>A c.5157C>A (n.5157C>A) n.10073C>A c.4260C>A (n.4260C>A) n.9965C>A c.851-2817G>T (n.851-2817G>T) n.2995C>A n.7018C>A c.2846C>A (p.Pro949His) c.26528C>A (p.Pro8843His) c.26516C>A (p.Pro8839His) c.26507C>A (p.Pro8836His) c.26486C>A (p.Pro8829His) c.26477C>A (p.Pro8826His) c.26471C>A (p.Pro8824His) c.26459C>A (p.Pro8820His) c.26456C>A (p.Pro8819His) c.26417C>A (p.Pro8806His) c.26402C>A (p.Pro8801His) c.26387C>A (p.Pro8796His) c.26375C>A (p.Pro8792His) c.26372C>A (p.Pro8791His) c.26369C>A (p.Pro8790His) c.*192C>A (n.*192C>A) c.26525C>A (p.Pro8842His) c.26513C>A (p.Pro8838His) c.26363C>A (p.Pro8788His) c.24803C>A (p.Pro8268His) c.24296C>A (p.Pro8099His) c.19763C>A (p.Pro6588His) c.26501C>A (p.Pro8834His) c.26450C>A (p.Pro8817His) c.26414C>A (p.Pro8805His) c.26261C>A (p.Pro8754His) | |
6 | g.152122450G>A | CA366088433 | ESR1,SYNE1 | c.2914C>T (p.Pro972Ser) c.26380C>T (p.Pro8794Ser) c.26236C>T (p.Pro8746Ser) c.1723C>T c.2098C>T c.1965C>T c.2230C>T (n.2230C>T) c.25165C>T (p.Pro8389Ser) n.3128C>T c.5156C>T (n.5156C>T) n.10072C>T c.4259C>T (n.4259C>T) n.9964C>T c.851-2816G>A (n.851-2816G>A) n.2994C>T n.7017C>T c.2845C>T (p.Pro949Ser) c.26527C>T (p.Pro8843Ser) c.26515C>T (p.Pro8839Ser) c.26506C>T (p.Pro8836Ser) c.26485C>T (p.Pro8829Ser) c.26476C>T (p.Pro8826Ser) c.26470C>T (p.Pro8824Ser) c.26458C>T (p.Pro8820Ser) c.26455C>T (p.Pro8819Ser) c.26416C>T (p.Pro8806Ser) c.26401C>T (p.Pro8801Ser) c.26386C>T (p.Pro8796Ser) c.26374C>T (p.Pro8792Ser) c.26371C>T (p.Pro8791Ser) c.26368C>T (p.Pro8790Ser) c.*191C>T (n.*191C>T) c.26524C>T (p.Pro8842Ser) c.26512C>T (p.Pro8838Ser) c.26362C>T (p.Pro8788Ser) c.24802C>T (p.Pro8268Ser) c.24295C>T (p.Pro8099Ser) c.19762C>T (p.Pro6588Ser) c.26500C>T (p.Pro8834Ser) c.26449C>T (p.Pro8817Ser) c.26413C>T (p.Pro8805Ser) c.26260C>T (p.Pro8754Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152122450G>C | CA366088434 | ESR1,SYNE1 | c.2914C>G (p.Pro972Ala) c.26380C>G (p.Pro8794Ala) c.26236C>G (p.Pro8746Ala) c.1723C>G c.2098C>G c.1965C>G c.2230C>G (n.2230C>G) c.25165C>G (p.Pro8389Ala) n.3128C>G c.5156C>G (n.5156C>G) n.10072C>G c.4259C>G (n.4259C>G) n.9964C>G c.851-2816G>C (n.851-2816G>C) n.2994C>G n.7017C>G c.2845C>G (p.Pro949Ala) c.26527C>G (p.Pro8843Ala) c.26515C>G (p.Pro8839Ala) c.26506C>G (p.Pro8836Ala) c.26485C>G (p.Pro8829Ala) c.26476C>G (p.Pro8826Ala) c.26470C>G (p.Pro8824Ala) c.26458C>G (p.Pro8820Ala) c.26455C>G (p.Pro8819Ala) c.26416C>G (p.Pro8806Ala) c.26401C>G (p.Pro8801Ala) c.26386C>G (p.Pro8796Ala) c.26374C>G (p.Pro8792Ala) c.26371C>G (p.Pro8791Ala) c.26368C>G (p.Pro8790Ala) c.*191C>G (n.*191C>G) c.26524C>G (p.Pro8842Ala) c.26512C>G (p.Pro8838Ala) c.26362C>G (p.Pro8788Ala) c.24802C>G (p.Pro8268Ala) c.24295C>G (p.Pro8099Ala) c.19762C>G (p.Pro6588Ala) c.26500C>G (p.Pro8834Ala) c.26449C>G (p.Pro8817Ala) c.26413C>G (p.Pro8805Ala) c.26260C>G (p.Pro8754Ala) | |
6 | g.152122450G= | CA1673188715 | ESR1,SYNE1 | c.2914C= (p.Pro972=) c.26380C= (p.Pro8794=) c.26236C= (p.Pro8746=) c.1723C= c.2098C= c.1965C= c.2230C= (n.2230C=) c.25165C= (p.Pro8389=) n.3128C= c.5156C= (n.5156C=) n.10072C= c.4259C= (n.4259C=) n.9964C= c.851-2816G= (n.851-2816G=) n.2994C= n.7017C= c.2845C= (p.Pro949=) c.26527C= (p.Pro8843=) c.26515C= (p.Pro8839=) c.26506C= (p.Pro8836=) c.26485C= (p.Pro8829=) c.26476C= (p.Pro8826=) c.26470C= (p.Pro8824=) c.26458C= (p.Pro8820=) c.26455C= (p.Pro8819=) c.26416C= (p.Pro8806=) c.26401C= (p.Pro8801=) c.26386C= (p.Pro8796=) c.26374C= (p.Pro8792=) c.26371C= (p.Pro8791=) c.26368C= (p.Pro8790=) c.*191C= (n.*191C=) c.26524C= (p.Pro8842=) c.26512C= (p.Pro8838=) c.26362C= (p.Pro8788=) c.24802C= (p.Pro8268=) c.24295C= (p.Pro8099=) c.19762C= (p.Pro6588=) c.26500C= (p.Pro8834=) c.26449C= (p.Pro8817=) c.26413C= (p.Pro8805=) c.26260C= (p.Pro8754=) | |
6 | g.152122450G>T | CA366088435 | ESR1,SYNE1 | c.2914C>A (p.Pro972Thr) c.26380C>A (p.Pro8794Thr) c.26236C>A (p.Pro8746Thr) c.1723C>A c.2098C>A c.1965C>A c.2230C>A (n.2230C>A) c.25165C>A (p.Pro8389Thr) n.3128C>A c.5156C>A (n.5156C>A) n.10072C>A c.4259C>A (n.4259C>A) n.9964C>A c.851-2816G>T (n.851-2816G>T) n.2994C>A n.7017C>A c.2845C>A (p.Pro949Thr) c.26527C>A (p.Pro8843Thr) c.26515C>A (p.Pro8839Thr) c.26506C>A (p.Pro8836Thr) c.26485C>A (p.Pro8829Thr) c.26476C>A (p.Pro8826Thr) c.26470C>A (p.Pro8824Thr) c.26458C>A (p.Pro8820Thr) c.26455C>A (p.Pro8819Thr) c.26416C>A (p.Pro8806Thr) c.26401C>A (p.Pro8801Thr) c.26386C>A (p.Pro8796Thr) c.26374C>A (p.Pro8792Thr) c.26371C>A (p.Pro8791Thr) c.26368C>A (p.Pro8790Thr) c.*191C>A (n.*191C>A) c.26524C>A (p.Pro8842Thr) c.26512C>A (p.Pro8838Thr) c.26362C>A (p.Pro8788Thr) c.24802C>A (p.Pro8268Thr) c.24295C>A (p.Pro8099Thr) c.19762C>A (p.Pro6588Thr) c.26500C>A (p.Pro8834Thr) c.26449C>A (p.Pro8817Thr) c.26413C>A (p.Pro8805Thr) c.26260C>A (p.Pro8754Thr) | |
6 | g.152122451G>A | CA452969427 | ESR1,SYNE1 | c.2913C>T (p.Gly971=) c.26379C>T (p.Gly8793=) c.26235C>T (p.Gly8745=) c.1722C>T c.2097C>T c.1964C>T c.2229C>T (n.2229C>T) c.25164C>T (p.Gly8388=) n.3127C>T c.5155C>T (n.5155C>T) n.10071C>T c.4258C>T (n.4258C>T) n.9963C>T c.851-2815G>A (n.851-2815G>A) n.2993C>T n.7016C>T c.2844C>T (p.Gly948=) c.26526C>T (p.Gly8842=) c.26514C>T (p.Gly8838=) c.26505C>T (p.Gly8835=) c.26484C>T (p.Gly8828=) c.26475C>T (p.Gly8825=) c.26469C>T (p.Gly8823=) c.26457C>T (p.Gly8819=) c.26454C>T (p.Gly8818=) c.26415C>T (p.Gly8805=) c.26400C>T (p.Gly8800=) c.26385C>T (p.Gly8795=) c.26373C>T (p.Gly8791=) c.26370C>T (p.Gly8790=) c.26367C>T (p.Gly8789=) c.*190C>T (n.*190C>T) c.26523C>T (p.Gly8841=) c.26511C>T (p.Gly8837=) c.26361C>T (p.Gly8787=) c.24801C>T (p.Gly8267=) c.24294C>T (p.Gly8098=) c.19761C>T (p.Gly6587=) c.26499C>T (p.Gly8833=) c.26448C>T (p.Gly8816=) c.26412C>T (p.Gly8804=) c.26259C>T (p.Gly8753=) | |
6 | g.152122451G>C | CA452969428 | ESR1,SYNE1 | c.2913C>G (p.Gly971=) c.26379C>G (p.Gly8793=) c.26235C>G (p.Gly8745=) c.1722C>G c.2097C>G c.1964C>G c.2229C>G (n.2229C>G) c.25164C>G (p.Gly8388=) n.3127C>G c.5155C>G (n.5155C>G) n.10071C>G c.4258C>G (n.4258C>G) n.9963C>G c.851-2815G>C (n.851-2815G>C) n.2993C>G n.7016C>G c.2844C>G (p.Gly948=) c.26526C>G (p.Gly8842=) c.26514C>G (p.Gly8838=) c.26505C>G (p.Gly8835=) c.26484C>G (p.Gly8828=) c.26475C>G (p.Gly8825=) c.26469C>G (p.Gly8823=) c.26457C>G (p.Gly8819=) c.26454C>G (p.Gly8818=) c.26415C>G (p.Gly8805=) c.26400C>G (p.Gly8800=) c.26385C>G (p.Gly8795=) c.26373C>G (p.Gly8791=) c.26370C>G (p.Gly8790=) c.26367C>G (p.Gly8789=) c.*190C>G (n.*190C>G) c.26523C>G (p.Gly8841=) c.26511C>G (p.Gly8837=) c.26361C>G (p.Gly8787=) c.24801C>G (p.Gly8267=) c.24294C>G (p.Gly8098=) c.19761C>G (p.Gly6587=) c.26499C>G (p.Gly8833=) c.26448C>G (p.Gly8816=) c.26412C>G (p.Gly8804=) c.26259C>G (p.Gly8753=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122451G= | CA1673188719 | ESR1,SYNE1 | c.2913C= (p.Gly971=) c.26379C= (p.Gly8793=) c.26235C= (p.Gly8745=) c.1722C= c.2097C= c.1964C= c.2229C= (n.2229C=) c.25164C= (p.Gly8388=) n.3127C= c.5155C= (n.5155C=) n.10071C= c.4258C= (n.4258C=) n.9963C= c.851-2815G= (n.851-2815G=) n.2993C= n.7016C= c.2844C= (p.Gly948=) c.26526C= (p.Gly8842=) c.26514C= (p.Gly8838=) c.26505C= (p.Gly8835=) c.26484C= (p.Gly8828=) c.26475C= (p.Gly8825=) c.26469C= (p.Gly8823=) c.26457C= (p.Gly8819=) c.26454C= (p.Gly8818=) c.26415C= (p.Gly8805=) c.26400C= (p.Gly8800=) c.26385C= (p.Gly8795=) c.26373C= (p.Gly8791=) c.26370C= (p.Gly8790=) c.26367C= (p.Gly8789=) c.*190C= (n.*190C=) c.26523C= (p.Gly8841=) c.26511C= (p.Gly8837=) c.26361C= (p.Gly8787=) c.24801C= (p.Gly8267=) c.24294C= (p.Gly8098=) c.19761C= (p.Gly6587=) c.26499C= (p.Gly8833=) c.26448C= (p.Gly8816=) c.26412C= (p.Gly8804=) c.26259C= (p.Gly8753=) | |
6 | g.152122451G>T | CA452969430 | ESR1,SYNE1 | c.2913C>A (p.Gly971=) c.26379C>A (p.Gly8793=) c.26235C>A (p.Gly8745=) c.1722C>A c.2097C>A c.1964C>A c.2229C>A (n.2229C>A) c.25164C>A (p.Gly8388=) n.3127C>A c.5155C>A (n.5155C>A) n.10071C>A c.4258C>A (n.4258C>A) n.9963C>A c.851-2815G>T (n.851-2815G>T) n.2993C>A n.7016C>A c.2844C>A (p.Gly948=) c.26526C>A (p.Gly8842=) c.26514C>A (p.Gly8838=) c.26505C>A (p.Gly8835=) c.26484C>A (p.Gly8828=) c.26475C>A (p.Gly8825=) c.26469C>A (p.Gly8823=) c.26457C>A (p.Gly8819=) c.26454C>A (p.Gly8818=) c.26415C>A (p.Gly8805=) c.26400C>A (p.Gly8800=) c.26385C>A (p.Gly8795=) c.26373C>A (p.Gly8791=) c.26370C>A (p.Gly8790=) c.26367C>A (p.Gly8789=) c.*190C>A (n.*190C>A) c.26523C>A (p.Gly8841=) c.26511C>A (p.Gly8837=) c.26361C>A (p.Gly8787=) c.24801C>A (p.Gly8267=) c.24294C>A (p.Gly8098=) c.19761C>A (p.Gly6587=) c.26499C>A (p.Gly8833=) c.26448C>A (p.Gly8816=) c.26412C>A (p.Gly8804=) c.26259C>A (p.Gly8753=) | |
6 | g.152122452C>A | CA366088436 | ESR1,SYNE1 | c.2912G>T (p.Gly971Val) c.26378G>T (p.Gly8793Val) c.26234G>T (p.Gly8745Val) c.1721G>T c.2096G>T c.1963G>T c.2228G>T (n.2228G>T) c.25163G>T (p.Gly8388Val) n.3126G>T c.5154G>T (n.5154G>T) n.10070G>T c.4257G>T (n.4257G>T) n.9962G>T c.851-2814C>A (n.851-2814C>A) n.2992G>T n.7015G>T c.2843G>T (p.Gly948Val) c.26525G>T (p.Gly8842Val) c.26513G>T (p.Gly8838Val) c.26504G>T (p.Gly8835Val) c.26483G>T (p.Gly8828Val) c.26474G>T (p.Gly8825Val) c.26468G>T (p.Gly8823Val) c.26456G>T (p.Gly8819Val) c.26453G>T (p.Gly8818Val) c.26414G>T (p.Gly8805Val) c.26399G>T (p.Gly8800Val) c.26384G>T (p.Gly8795Val) c.26372G>T (p.Gly8791Val) c.26369G>T (p.Gly8790Val) c.26366G>T (p.Gly8789Val) c.*189G>T (n.*189G>T) c.26522G>T (p.Gly8841Val) c.26510G>T (p.Gly8837Val) c.26360G>T (p.Gly8787Val) c.24800G>T (p.Gly8267Val) c.24293G>T (p.Gly8098Val) c.19760G>T (p.Gly6587Val) c.26498G>T (p.Gly8833Val) c.26447G>T (p.Gly8816Val) c.26411G>T (p.Gly8804Val) c.26258G>T (p.Gly8753Val) | gnomAD v4 |
6 | g.152122452C= | CA1673188723 | ESR1,SYNE1 | c.2912G= (p.Gly971=) c.26378G= (p.Gly8793=) c.26234G= (p.Gly8745=) c.1721G= c.2096G= c.1963G= c.2228G= (n.2228G=) c.25163G= (p.Gly8388=) n.3126G= c.5154G= (n.5154G=) n.10070G= c.4257G= (n.4257G=) n.9962G= c.851-2814C= (n.851-2814C=) n.2992G= n.7015G= c.2843G= (p.Gly948=) c.26525G= (p.Gly8842=) c.26513G= (p.Gly8838=) c.26504G= (p.Gly8835=) c.26483G= (p.Gly8828=) c.26474G= (p.Gly8825=) c.26468G= (p.Gly8823=) c.26456G= (p.Gly8819=) c.26453G= (p.Gly8818=) c.26414G= (p.Gly8805=) c.26399G= (p.Gly8800=) c.26384G= (p.Gly8795=) c.26372G= (p.Gly8791=) c.26369G= (p.Gly8790=) c.26366G= (p.Gly8789=) c.*189G= (n.*189G=) c.26522G= (p.Gly8841=) c.26510G= (p.Gly8837=) c.26360G= (p.Gly8787=) c.24800G= (p.Gly8267=) c.24293G= (p.Gly8098=) c.19760G= (p.Gly6587=) c.26498G= (p.Gly8833=) c.26447G= (p.Gly8816=) c.26411G= (p.Gly8804=) c.26258G= (p.Gly8753=) | |
6 | g.152122452C>G | CA366088437 | ESR1,SYNE1 | c.2912G>C (p.Gly971Ala) c.26378G>C (p.Gly8793Ala) c.26234G>C (p.Gly8745Ala) c.1721G>C c.2096G>C c.1963G>C c.2228G>C (n.2228G>C) c.25163G>C (p.Gly8388Ala) n.3126G>C c.5154G>C (n.5154G>C) n.10070G>C c.4257G>C (n.4257G>C) n.9962G>C c.851-2814C>G (n.851-2814C>G) n.2992G>C n.7015G>C c.2843G>C (p.Gly948Ala) c.26525G>C (p.Gly8842Ala) c.26513G>C (p.Gly8838Ala) c.26504G>C (p.Gly8835Ala) c.26483G>C (p.Gly8828Ala) c.26474G>C (p.Gly8825Ala) c.26468G>C (p.Gly8823Ala) c.26456G>C (p.Gly8819Ala) c.26453G>C (p.Gly8818Ala) c.26414G>C (p.Gly8805Ala) c.26399G>C (p.Gly8800Ala) c.26384G>C (p.Gly8795Ala) c.26372G>C (p.Gly8791Ala) c.26369G>C (p.Gly8790Ala) c.26366G>C (p.Gly8789Ala) c.*189G>C (n.*189G>C) c.26522G>C (p.Gly8841Ala) c.26510G>C (p.Gly8837Ala) c.26360G>C (p.Gly8787Ala) c.24800G>C (p.Gly8267Ala) c.24293G>C (p.Gly8098Ala) c.19760G>C (p.Gly6587Ala) c.26498G>C (p.Gly8833Ala) c.26447G>C (p.Gly8816Ala) c.26411G>C (p.Gly8804Ala) c.26258G>C (p.Gly8753Ala) | |
6 | g.152122452C>T | CA366088438 | ESR1,SYNE1 | c.2912G>A (p.Gly971Asp) c.26378G>A (p.Gly8793Asp) c.26234G>A (p.Gly8745Asp) c.1721G>A c.2096G>A c.1963G>A c.2228G>A (n.2228G>A) c.25163G>A (p.Gly8388Asp) n.3126G>A c.5154G>A (n.5154G>A) n.10070G>A c.4257G>A (n.4257G>A) n.9962G>A c.851-2814C>T (n.851-2814C>T) n.2992G>A n.7015G>A c.2843G>A (p.Gly948Asp) c.26525G>A (p.Gly8842Asp) c.26513G>A (p.Gly8838Asp) c.26504G>A (p.Gly8835Asp) c.26483G>A (p.Gly8828Asp) c.26474G>A (p.Gly8825Asp) c.26468G>A (p.Gly8823Asp) c.26456G>A (p.Gly8819Asp) c.26453G>A (p.Gly8818Asp) c.26414G>A (p.Gly8805Asp) c.26399G>A (p.Gly8800Asp) c.26384G>A (p.Gly8795Asp) c.26372G>A (p.Gly8791Asp) c.26369G>A (p.Gly8790Asp) c.26366G>A (p.Gly8789Asp) c.*189G>A (n.*189G>A) c.26522G>A (p.Gly8841Asp) c.26510G>A (p.Gly8837Asp) c.26360G>A (p.Gly8787Asp) c.24800G>A (p.Gly8267Asp) c.24293G>A (p.Gly8098Asp) c.19760G>A (p.Gly6587Asp) c.26498G>A (p.Gly8833Asp) c.26447G>A (p.Gly8816Asp) c.26411G>A (p.Gly8804Asp) c.26258G>A (p.Gly8753Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122453C>A | CA4052574 | ESR1,SYNE1 | c.2911G>T (p.Gly971Cys) c.26377G>T (p.Gly8793Cys) c.26233G>T (p.Gly8745Cys) c.1720G>T c.2095G>T c.1962G>T c.2227G>T (n.2227G>T) c.25162G>T (p.Gly8388Cys) n.3125G>T c.5153G>T (n.5153G>T) n.10069G>T c.4256G>T (n.4256G>T) n.9961G>T c.851-2813C>A (n.851-2813C>A) n.2991G>T n.7014G>T c.2842G>T (p.Gly948Cys) c.26524G>T (p.Gly8842Cys) c.26512G>T (p.Gly8838Cys) c.26503G>T (p.Gly8835Cys) c.26482G>T (p.Gly8828Cys) c.26473G>T (p.Gly8825Cys) c.26467G>T (p.Gly8823Cys) c.26455G>T (p.Gly8819Cys) c.26452G>T (p.Gly8818Cys) c.26413G>T (p.Gly8805Cys) c.26398G>T (p.Gly8800Cys) c.26383G>T (p.Gly8795Cys) c.26371G>T (p.Gly8791Cys) c.26368G>T (p.Gly8790Cys) c.26365G>T (p.Gly8789Cys) c.*188G>T (n.*188G>T) c.26521G>T (p.Gly8841Cys) c.26509G>T (p.Gly8837Cys) c.26359G>T (p.Gly8787Cys) c.24799G>T (p.Gly8267Cys) c.24292G>T (p.Gly8098Cys) c.19759G>T (p.Gly6587Cys) c.26497G>T (p.Gly8833Cys) c.26446G>T (p.Gly8816Cys) c.26410G>T (p.Gly8804Cys) c.26257G>T (p.Gly8753Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122453C= | CA1673188727 | ESR1,SYNE1 | c.2911G= (p.Gly971=) c.26377G= (p.Gly8793=) c.26233G= (p.Gly8745=) c.1720G= c.2095G= c.1962G= c.2227G= (n.2227G=) c.25162G= (p.Gly8388=) n.3125G= c.5153G= (n.5153G=) n.10069G= c.4256G= (n.4256G=) n.9961G= c.851-2813C= (n.851-2813C=) n.2991G= n.7014G= c.2842G= (p.Gly948=) c.26524G= (p.Gly8842=) c.26512G= (p.Gly8838=) c.26503G= (p.Gly8835=) c.26482G= (p.Gly8828=) c.26473G= (p.Gly8825=) c.26467G= (p.Gly8823=) c.26455G= (p.Gly8819=) c.26452G= (p.Gly8818=) c.26413G= (p.Gly8805=) c.26398G= (p.Gly8800=) c.26383G= (p.Gly8795=) c.26371G= (p.Gly8791=) c.26368G= (p.Gly8790=) c.26365G= (p.Gly8789=) c.*188G= (n.*188G=) c.26521G= (p.Gly8841=) c.26509G= (p.Gly8837=) c.26359G= (p.Gly8787=) c.24799G= (p.Gly8267=) c.24292G= (p.Gly8098=) c.19759G= (p.Gly6587=) c.26497G= (p.Gly8833=) c.26446G= (p.Gly8816=) c.26410G= (p.Gly8804=) c.26257G= (p.Gly8753=) | |
6 | g.152122453C>G | CA366088439 | ESR1,SYNE1 | c.2911G>C (p.Gly971Arg) c.26377G>C (p.Gly8793Arg) c.26233G>C (p.Gly8745Arg) c.1720G>C c.2095G>C c.1962G>C c.2227G>C (n.2227G>C) c.25162G>C (p.Gly8388Arg) n.3125G>C c.5153G>C (n.5153G>C) n.10069G>C c.4256G>C (n.4256G>C) n.9961G>C c.851-2813C>G (n.851-2813C>G) n.2991G>C n.7014G>C c.2842G>C (p.Gly948Arg) c.26524G>C (p.Gly8842Arg) c.26512G>C (p.Gly8838Arg) c.26503G>C (p.Gly8835Arg) c.26482G>C (p.Gly8828Arg) c.26473G>C (p.Gly8825Arg) c.26467G>C (p.Gly8823Arg) c.26455G>C (p.Gly8819Arg) c.26452G>C (p.Gly8818Arg) c.26413G>C (p.Gly8805Arg) c.26398G>C (p.Gly8800Arg) c.26383G>C (p.Gly8795Arg) c.26371G>C (p.Gly8791Arg) c.26368G>C (p.Gly8790Arg) c.26365G>C (p.Gly8789Arg) c.*188G>C (n.*188G>C) c.26521G>C (p.Gly8841Arg) c.26509G>C (p.Gly8837Arg) c.26359G>C (p.Gly8787Arg) c.24799G>C (p.Gly8267Arg) c.24292G>C (p.Gly8098Arg) c.19759G>C (p.Gly6587Arg) c.26497G>C (p.Gly8833Arg) c.26446G>C (p.Gly8816Arg) c.26410G>C (p.Gly8804Arg) c.26257G>C (p.Gly8753Arg) | |
6 | g.152122453C>T | CA366088440 | ESR1,SYNE1 | c.2911G>A (p.Gly971Ser) c.26377G>A (p.Gly8793Ser) c.26233G>A (p.Gly8745Ser) c.1720G>A c.2095G>A c.1962G>A c.2227G>A (n.2227G>A) c.25162G>A (p.Gly8388Ser) n.3125G>A c.5153G>A (n.5153G>A) n.10069G>A c.4256G>A (n.4256G>A) n.9961G>A c.851-2813C>T (n.851-2813C>T) n.2991G>A n.7014G>A c.2842G>A (p.Gly948Ser) c.26524G>A (p.Gly8842Ser) c.26512G>A (p.Gly8838Ser) c.26503G>A (p.Gly8835Ser) c.26482G>A (p.Gly8828Ser) c.26473G>A (p.Gly8825Ser) c.26467G>A (p.Gly8823Ser) c.26455G>A (p.Gly8819Ser) c.26452G>A (p.Gly8818Ser) c.26413G>A (p.Gly8805Ser) c.26398G>A (p.Gly8800Ser) c.26383G>A (p.Gly8795Ser) c.26371G>A (p.Gly8791Ser) c.26368G>A (p.Gly8790Ser) c.26365G>A (p.Gly8789Ser) c.*188G>A (n.*188G>A) c.26521G>A (p.Gly8841Ser) c.26509G>A (p.Gly8837Ser) c.26359G>A (p.Gly8787Ser) c.24799G>A (p.Gly8267Ser) c.24292G>A (p.Gly8098Ser) c.19759G>A (p.Gly6587Ser) c.26497G>A (p.Gly8833Ser) c.26446G>A (p.Gly8816Ser) c.26410G>A (p.Gly8804Ser) c.26257G>A (p.Gly8753Ser) | |
6 | g.152122454A>C | CA366088441 | ESR1,SYNE1 | c.2910T>G (p.Asn970Lys) c.26376T>G (p.Asn8792Lys) c.26232T>G (p.Asn8744Lys) c.1719T>G c.2094T>G c.1961T>G c.2226T>G (n.2226T>G) c.25161T>G (p.Asn8387Lys) n.3124T>G c.5152T>G (n.5152T>G) n.10068T>G c.4255T>G (n.4255T>G) n.9960T>G c.851-2812A>C (n.851-2812A>C) n.2990T>G n.7013T>G c.2841T>G (p.Asn947Lys) c.26523T>G (p.Asn8841Lys) c.26511T>G (p.Asn8837Lys) c.26502T>G (p.Asn8834Lys) c.26481T>G (p.Asn8827Lys) c.26472T>G (p.Asn8824Lys) c.26466T>G (p.Asn8822Lys) c.26454T>G (p.Asn8818Lys) c.26451T>G (p.Asn8817Lys) c.26412T>G (p.Asn8804Lys) c.26397T>G (p.Asn8799Lys) c.26382T>G (p.Asn8794Lys) c.26370T>G (p.Asn8790Lys) c.26367T>G (p.Asn8789Lys) c.26364T>G (p.Asn8788Lys) c.*187T>G (n.*187T>G) c.26520T>G (p.Asn8840Lys) c.26508T>G (p.Asn8836Lys) c.26358T>G (p.Asn8786Lys) c.24798T>G (p.Asn8266Lys) c.24291T>G (p.Asn8097Lys) c.19758T>G (p.Asn6586Lys) c.26496T>G (p.Asn8832Lys) c.26445T>G (p.Asn8815Lys) c.26409T>G (p.Asn8803Lys) c.26256T>G (p.Asn8752Lys) | |
6 | g.152122454A>G | CA452969449 | ESR1,SYNE1 | c.2910T>C (p.Asn970=) c.26376T>C (p.Asn8792=) c.26232T>C (p.Asn8744=) c.1719T>C c.2094T>C c.1961T>C c.2226T>C (n.2226T>C) c.25161T>C (p.Asn8387=) n.3124T>C c.5152T>C (n.5152T>C) n.10068T>C c.4255T>C (n.4255T>C) n.9960T>C c.851-2812A>G (n.851-2812A>G) n.2990T>C n.7013T>C c.2841T>C (p.Asn947=) c.26523T>C (p.Asn8841=) c.26511T>C (p.Asn8837=) c.26502T>C (p.Asn8834=) c.26481T>C (p.Asn8827=) c.26472T>C (p.Asn8824=) c.26466T>C (p.Asn8822=) c.26454T>C (p.Asn8818=) c.26451T>C (p.Asn8817=) c.26412T>C (p.Asn8804=) c.26397T>C (p.Asn8799=) c.26382T>C (p.Asn8794=) c.26370T>C (p.Asn8790=) c.26367T>C (p.Asn8789=) c.26364T>C (p.Asn8788=) c.*187T>C (n.*187T>C) c.26520T>C (p.Asn8840=) c.26508T>C (p.Asn8836=) c.26358T>C (p.Asn8786=) c.24798T>C (p.Asn8266=) c.24291T>C (p.Asn8097=) c.19758T>C (p.Asn6586=) c.26496T>C (p.Asn8832=) c.26445T>C (p.Asn8815=) c.26409T>C (p.Asn8803=) c.26256T>C (p.Asn8752=) | ClinVar dbSNP gnomAD v4 |
6 | g.152122454A>T | CA366088442 | ESR1,SYNE1 | c.2910T>A (p.Asn970Lys) c.26376T>A (p.Asn8792Lys) c.26232T>A (p.Asn8744Lys) c.1719T>A c.2094T>A c.1961T>A c.2226T>A (n.2226T>A) c.25161T>A (p.Asn8387Lys) n.3124T>A c.5152T>A (n.5152T>A) n.10068T>A c.4255T>A (n.4255T>A) n.9960T>A c.851-2812A>T (n.851-2812A>T) n.2990T>A n.7013T>A c.2841T>A (p.Asn947Lys) c.26523T>A (p.Asn8841Lys) c.26511T>A (p.Asn8837Lys) c.26502T>A (p.Asn8834Lys) c.26481T>A (p.Asn8827Lys) c.26472T>A (p.Asn8824Lys) c.26466T>A (p.Asn8822Lys) c.26454T>A (p.Asn8818Lys) c.26451T>A (p.Asn8817Lys) c.26412T>A (p.Asn8804Lys) c.26397T>A (p.Asn8799Lys) c.26382T>A (p.Asn8794Lys) c.26370T>A (p.Asn8790Lys) c.26367T>A (p.Asn8789Lys) c.26364T>A (p.Asn8788Lys) c.*187T>A (n.*187T>A) c.26520T>A (p.Asn8840Lys) c.26508T>A (p.Asn8836Lys) c.26358T>A (p.Asn8786Lys) c.24798T>A (p.Asn8266Lys) c.24291T>A (p.Asn8097Lys) c.19758T>A (p.Asn6586Lys) c.26496T>A (p.Asn8832Lys) c.26445T>A (p.Asn8815Lys) c.26409T>A (p.Asn8803Lys) c.26256T>A (p.Asn8752Lys) | |
6 | g.152122455T>A | CA366088443 | ESR1,SYNE1 | c.2909A>T (p.Asn970Ile) c.26375A>T (p.Asn8792Ile) c.26231A>T (p.Asn8744Ile) c.1718A>T c.2093A>T c.1960A>T c.2225A>T (n.2225A>T) c.25160A>T (p.Asn8387Ile) n.3123A>T c.5151A>T (n.5151A>T) n.10067A>T c.4254A>T (n.4254A>T) n.9959A>T c.851-2811T>A (n.851-2811T>A) n.2989A>T n.7012A>T c.2840A>T (p.Asn947Ile) c.26522A>T (p.Asn8841Ile) c.26510A>T (p.Asn8837Ile) c.26501A>T (p.Asn8834Ile) c.26480A>T (p.Asn8827Ile) c.26471A>T (p.Asn8824Ile) c.26465A>T (p.Asn8822Ile) c.26453A>T (p.Asn8818Ile) c.26450A>T (p.Asn8817Ile) c.26411A>T (p.Asn8804Ile) c.26396A>T (p.Asn8799Ile) c.26381A>T (p.Asn8794Ile) c.26369A>T (p.Asn8790Ile) c.26366A>T (p.Asn8789Ile) c.26363A>T (p.Asn8788Ile) c.*186A>T (n.*186A>T) c.26519A>T (p.Asn8840Ile) c.26507A>T (p.Asn8836Ile) c.26357A>T (p.Asn8786Ile) c.24797A>T (p.Asn8266Ile) c.24290A>T (p.Asn8097Ile) c.19757A>T (p.Asn6586Ile) c.26495A>T (p.Asn8832Ile) c.26444A>T (p.Asn8815Ile) c.26408A>T (p.Asn8803Ile) c.26255A>T (p.Asn8752Ile) | |
6 | g.152122455T>C | CA4052575 | ESR1,SYNE1 | c.2909A>G (p.Asn970Ser) c.26375A>G (p.Asn8792Ser) c.26231A>G (p.Asn8744Ser) c.1718A>G c.2093A>G c.1960A>G c.2225A>G (n.2225A>G) c.25160A>G (p.Asn8387Ser) n.3123A>G c.5151A>G (n.5151A>G) n.10067A>G c.4254A>G (n.4254A>G) n.9959A>G c.851-2811T>C (n.851-2811T>C) n.2989A>G n.7012A>G c.2840A>G (p.Asn947Ser) c.26522A>G (p.Asn8841Ser) c.26510A>G (p.Asn8837Ser) c.26501A>G (p.Asn8834Ser) c.26480A>G (p.Asn8827Ser) c.26471A>G (p.Asn8824Ser) c.26465A>G (p.Asn8822Ser) c.26453A>G (p.Asn8818Ser) c.26450A>G (p.Asn8817Ser) c.26411A>G (p.Asn8804Ser) c.26396A>G (p.Asn8799Ser) c.26381A>G (p.Asn8794Ser) c.26369A>G (p.Asn8790Ser) c.26366A>G (p.Asn8789Ser) c.26363A>G (p.Asn8788Ser) c.*186A>G (n.*186A>G) c.26519A>G (p.Asn8840Ser) c.26507A>G (p.Asn8836Ser) c.26357A>G (p.Asn8786Ser) c.24797A>G (p.Asn8266Ser) c.24290A>G (p.Asn8097Ser) c.19757A>G (p.Asn6586Ser) c.26495A>G (p.Asn8832Ser) c.26444A>G (p.Asn8815Ser) c.26408A>G (p.Asn8803Ser) c.26255A>G (p.Asn8752Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122455T>G | CA366088444 | ESR1,SYNE1 | c.2909A>C (p.Asn970Thr) c.26375A>C (p.Asn8792Thr) c.26231A>C (p.Asn8744Thr) c.1718A>C c.2093A>C c.1960A>C c.2225A>C (n.2225A>C) c.25160A>C (p.Asn8387Thr) n.3123A>C c.5151A>C (n.5151A>C) n.10067A>C c.4254A>C (n.4254A>C) n.9959A>C c.851-2811T>G (n.851-2811T>G) n.2989A>C n.7012A>C c.2840A>C (p.Asn947Thr) c.26522A>C (p.Asn8841Thr) c.26510A>C (p.Asn8837Thr) c.26501A>C (p.Asn8834Thr) c.26480A>C (p.Asn8827Thr) c.26471A>C (p.Asn8824Thr) c.26465A>C (p.Asn8822Thr) c.26453A>C (p.Asn8818Thr) c.26450A>C (p.Asn8817Thr) c.26411A>C (p.Asn8804Thr) c.26396A>C (p.Asn8799Thr) c.26381A>C (p.Asn8794Thr) c.26369A>C (p.Asn8790Thr) c.26366A>C (p.Asn8789Thr) c.26363A>C (p.Asn8788Thr) c.*186A>C (n.*186A>C) c.26519A>C (p.Asn8840Thr) c.26507A>C (p.Asn8836Thr) c.26357A>C (p.Asn8786Thr) c.24797A>C (p.Asn8266Thr) c.24290A>C (p.Asn8097Thr) c.19757A>C (p.Asn6586Thr) c.26495A>C (p.Asn8832Thr) c.26444A>C (p.Asn8815Thr) c.26408A>C (p.Asn8803Thr) c.26255A>C (p.Asn8752Thr) | |
6 | g.152122455T= | CA1673188737 | ESR1,SYNE1 | c.2909A= (p.Asn970=) c.26375A= (p.Asn8792=) c.26231A= (p.Asn8744=) c.1718A= c.2093A= c.1960A= c.2225A= (n.2225A=) c.25160A= (p.Asn8387=) n.3123A= c.5151A= (n.5151A=) n.10067A= c.4254A= (n.4254A=) n.9959A= c.851-2811T= (n.851-2811T=) n.2989A= n.7012A= c.2840A= (p.Asn947=) c.26522A= (p.Asn8841=) c.26510A= (p.Asn8837=) c.26501A= (p.Asn8834=) c.26480A= (p.Asn8827=) c.26471A= (p.Asn8824=) c.26465A= (p.Asn8822=) c.26453A= (p.Asn8818=) c.26450A= (p.Asn8817=) c.26411A= (p.Asn8804=) c.26396A= (p.Asn8799=) c.26381A= (p.Asn8794=) c.26369A= (p.Asn8790=) c.26366A= (p.Asn8789=) c.26363A= (p.Asn8788=) c.*186A= (n.*186A=) c.26519A= (p.Asn8840=) c.26507A= (p.Asn8836=) c.26357A= (p.Asn8786=) c.24797A= (p.Asn8266=) c.24290A= (p.Asn8097=) c.19757A= (p.Asn6586=) c.26495A= (p.Asn8832=) c.26444A= (p.Asn8815=) c.26408A= (p.Asn8803=) c.26255A= (p.Asn8752=) | |
6 | g.152122456T>A | CA366088445 | ESR1,SYNE1 | c.2908A>T (p.Asn970Tyr) c.26374A>T (p.Asn8792Tyr) c.26230A>T (p.Asn8744Tyr) c.1717A>T c.2092A>T c.1959A>T c.2224A>T (n.2224A>T) c.25159A>T (p.Asn8387Tyr) n.3122A>T c.5150A>T (n.5150A>T) n.10066A>T c.4253A>T (n.4253A>T) n.9958A>T c.851-2810T>A (n.851-2810T>A) n.2988A>T n.7011A>T c.2839A>T (p.Asn947Tyr) c.26521A>T (p.Asn8841Tyr) c.26509A>T (p.Asn8837Tyr) c.26500A>T (p.Asn8834Tyr) c.26479A>T (p.Asn8827Tyr) c.26470A>T (p.Asn8824Tyr) c.26464A>T (p.Asn8822Tyr) c.26452A>T (p.Asn8818Tyr) c.26449A>T (p.Asn8817Tyr) c.26410A>T (p.Asn8804Tyr) c.26395A>T (p.Asn8799Tyr) c.26380A>T (p.Asn8794Tyr) c.26368A>T (p.Asn8790Tyr) c.26365A>T (p.Asn8789Tyr) c.26362A>T (p.Asn8788Tyr) c.*185A>T (n.*185A>T) c.26518A>T (p.Asn8840Tyr) c.26506A>T (p.Asn8836Tyr) c.26356A>T (p.Asn8786Tyr) c.24796A>T (p.Asn8266Tyr) c.24289A>T (p.Asn8097Tyr) c.19756A>T (p.Asn6586Tyr) c.26494A>T (p.Asn8832Tyr) c.26443A>T (p.Asn8815Tyr) c.26407A>T (p.Asn8803Tyr) c.26254A>T (p.Asn8752Tyr) | |
6 | g.152122456T>C | CA366088446 | ESR1,SYNE1 | c.2908A>G (p.Asn970Asp) c.26374A>G (p.Asn8792Asp) c.26230A>G (p.Asn8744Asp) c.1717A>G c.2092A>G c.1959A>G c.2224A>G (n.2224A>G) c.25159A>G (p.Asn8387Asp) n.3122A>G c.5150A>G (n.5150A>G) n.10066A>G c.4253A>G (n.4253A>G) n.9958A>G c.851-2810T>C (n.851-2810T>C) n.2988A>G n.7011A>G c.2839A>G (p.Asn947Asp) c.26521A>G (p.Asn8841Asp) c.26509A>G (p.Asn8837Asp) c.26500A>G (p.Asn8834Asp) c.26479A>G (p.Asn8827Asp) c.26470A>G (p.Asn8824Asp) c.26464A>G (p.Asn8822Asp) c.26452A>G (p.Asn8818Asp) c.26449A>G (p.Asn8817Asp) c.26410A>G (p.Asn8804Asp) c.26395A>G (p.Asn8799Asp) c.26380A>G (p.Asn8794Asp) c.26368A>G (p.Asn8790Asp) c.26365A>G (p.Asn8789Asp) c.26362A>G (p.Asn8788Asp) c.*185A>G (n.*185A>G) c.26518A>G (p.Asn8840Asp) c.26506A>G (p.Asn8836Asp) c.26356A>G (p.Asn8786Asp) c.24796A>G (p.Asn8266Asp) c.24289A>G (p.Asn8097Asp) c.19756A>G (p.Asn6586Asp) c.26494A>G (p.Asn8832Asp) c.26443A>G (p.Asn8815Asp) c.26407A>G (p.Asn8803Asp) c.26254A>G (p.Asn8752Asp) | |
6 | g.152122456T>G | CA366088447 | ESR1,SYNE1 | c.2908A>C (p.Asn970His) c.26374A>C (p.Asn8792His) c.26230A>C (p.Asn8744His) c.1717A>C c.2092A>C c.1959A>C c.2224A>C (n.2224A>C) c.25159A>C (p.Asn8387His) n.3122A>C c.5150A>C (n.5150A>C) n.10066A>C c.4253A>C (n.4253A>C) n.9958A>C c.851-2810T>G (n.851-2810T>G) n.2988A>C n.7011A>C c.2839A>C (p.Asn947His) c.26521A>C (p.Asn8841His) c.26509A>C (p.Asn8837His) c.26500A>C (p.Asn8834His) c.26479A>C (p.Asn8827His) c.26470A>C (p.Asn8824His) c.26464A>C (p.Asn8822His) c.26452A>C (p.Asn8818His) c.26449A>C (p.Asn8817His) c.26410A>C (p.Asn8804His) c.26395A>C (p.Asn8799His) c.26380A>C (p.Asn8794His) c.26368A>C (p.Asn8790His) c.26365A>C (p.Asn8789His) c.26362A>C (p.Asn8788His) c.*185A>C (n.*185A>C) c.26518A>C (p.Asn8840His) c.26506A>C (p.Asn8836His) c.26356A>C (p.Asn8786His) c.24796A>C (p.Asn8266His) c.24289A>C (p.Asn8097His) c.19756A>C (p.Asn6586His) c.26494A>C (p.Asn8832His) c.26443A>C (p.Asn8815His) c.26407A>C (p.Asn8803His) c.26254A>C (p.Asn8752His) | |
6 | g.152122457C>A | CA452969462 | ESR1,SYNE1 | c.2907G>T (p.Thr969=) c.26373G>T (p.Thr8791=) c.26229G>T (p.Thr8743=) c.1716G>T c.2091G>T c.1958G>T c.2223G>T (n.2223G>T) c.25158G>T (p.Thr8386=) n.3121G>T c.5149G>T (n.5149G>T) n.10065G>T c.4252G>T (n.4252G>T) n.9957G>T c.851-2809C>A (n.851-2809C>A) n.2987G>T n.7010G>T c.2838G>T (p.Thr946=) c.26520G>T (p.Thr8840=) c.26508G>T (p.Thr8836=) c.26499G>T (p.Thr8833=) c.26478G>T (p.Thr8826=) c.26469G>T (p.Thr8823=) c.26463G>T (p.Thr8821=) c.26451G>T (p.Thr8817=) c.26448G>T (p.Thr8816=) c.26409G>T (p.Thr8803=) c.26394G>T (p.Thr8798=) c.26379G>T (p.Thr8793=) c.26367G>T (p.Thr8789=) c.26364G>T (p.Thr8788=) c.26361G>T (p.Thr8787=) c.*184G>T (n.*184G>T) c.26517G>T (p.Thr8839=) c.26505G>T (p.Thr8835=) c.26355G>T (p.Thr8785=) c.24795G>T (p.Thr8265=) c.24288G>T (p.Thr8096=) c.19755G>T (p.Thr6585=) c.26493G>T (p.Thr8831=) c.26442G>T (p.Thr8814=) c.26406G>T (p.Thr8802=) c.26253G>T (p.Thr8751=) | |
6 | g.152122457C= | CA1673188744 | ESR1,SYNE1 | c.2907G= (p.Thr969=) c.26373G= (p.Thr8791=) c.26229G= (p.Thr8743=) c.1716G= c.2091G= c.1958G= c.2223G= (n.2223G=) c.25158G= (p.Thr8386=) n.3121G= c.5149G= (n.5149G=) n.10065G= c.4252G= (n.4252G=) n.9957G= c.851-2809C= (n.851-2809C=) n.2987G= n.7010G= c.2838G= (p.Thr946=) c.26520G= (p.Thr8840=) c.26508G= (p.Thr8836=) c.26499G= (p.Thr8833=) c.26478G= (p.Thr8826=) c.26469G= (p.Thr8823=) c.26463G= (p.Thr8821=) c.26451G= (p.Thr8817=) c.26448G= (p.Thr8816=) c.26409G= (p.Thr8803=) c.26394G= (p.Thr8798=) c.26379G= (p.Thr8793=) c.26367G= (p.Thr8789=) c.26364G= (p.Thr8788=) c.26361G= (p.Thr8787=) c.*184G= (n.*184G=) c.26517G= (p.Thr8839=) c.26505G= (p.Thr8835=) c.26355G= (p.Thr8785=) c.24795G= (p.Thr8265=) c.24288G= (p.Thr8096=) c.19755G= (p.Thr6585=) c.26493G= (p.Thr8831=) c.26442G= (p.Thr8814=) c.26406G= (p.Thr8802=) c.26253G= (p.Thr8751=) | |
6 | g.152122457C>G | CA452969465 | ESR1,SYNE1 | c.2907G>C (p.Thr969=) c.26373G>C (p.Thr8791=) c.26229G>C (p.Thr8743=) c.1716G>C c.2091G>C c.1958G>C c.2223G>C (n.2223G>C) c.25158G>C (p.Thr8386=) n.3121G>C c.5149G>C (n.5149G>C) n.10065G>C c.4252G>C (n.4252G>C) n.9957G>C c.851-2809C>G (n.851-2809C>G) n.2987G>C n.7010G>C c.2838G>C (p.Thr946=) c.26520G>C (p.Thr8840=) c.26508G>C (p.Thr8836=) c.26499G>C (p.Thr8833=) c.26478G>C (p.Thr8826=) c.26469G>C (p.Thr8823=) c.26463G>C (p.Thr8821=) c.26451G>C (p.Thr8817=) c.26448G>C (p.Thr8816=) c.26409G>C (p.Thr8803=) c.26394G>C (p.Thr8798=) c.26379G>C (p.Thr8793=) c.26367G>C (p.Thr8789=) c.26364G>C (p.Thr8788=) c.26361G>C (p.Thr8787=) c.*184G>C (n.*184G>C) c.26517G>C (p.Thr8839=) c.26505G>C (p.Thr8835=) c.26355G>C (p.Thr8785=) c.24795G>C (p.Thr8265=) c.24288G>C (p.Thr8096=) c.19755G>C (p.Thr6585=) c.26493G>C (p.Thr8831=) c.26442G>C (p.Thr8814=) c.26406G>C (p.Thr8802=) c.26253G>C (p.Thr8751=) | |
6 | g.152122457C>T | CA4052576 | ESR1,SYNE1 | c.2907G>A (p.Thr969=) c.26373G>A (p.Thr8791=) c.26229G>A (p.Thr8743=) c.1716G>A c.2091G>A c.1958G>A c.2223G>A (n.2223G>A) c.25158G>A (p.Thr8386=) n.3121G>A c.5149G>A (n.5149G>A) n.10065G>A c.4252G>A (n.4252G>A) n.9957G>A c.851-2809C>T (n.851-2809C>T) n.2987G>A n.7010G>A c.2838G>A (p.Thr946=) c.26520G>A (p.Thr8840=) c.26508G>A (p.Thr8836=) c.26499G>A (p.Thr8833=) c.26478G>A (p.Thr8826=) c.26469G>A (p.Thr8823=) c.26463G>A (p.Thr8821=) c.26451G>A (p.Thr8817=) c.26448G>A (p.Thr8816=) c.26409G>A (p.Thr8803=) c.26394G>A (p.Thr8798=) c.26379G>A (p.Thr8793=) c.26367G>A (p.Thr8789=) c.26364G>A (p.Thr8788=) c.26361G>A (p.Thr8787=) c.*184G>A (n.*184G>A) c.26517G>A (p.Thr8839=) c.26505G>A (p.Thr8835=) c.26355G>A (p.Thr8785=) c.24795G>A (p.Thr8265=) c.24288G>A (p.Thr8096=) c.19755G>A (p.Thr6585=) c.26493G>A (p.Thr8831=) c.26442G>A (p.Thr8814=) c.26406G>A (p.Thr8802=) c.26253G>A (p.Thr8751=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122458G>A | CA4052577 | ESR1,SYNE1 | c.2906C>T (p.Thr969Met) c.26372C>T (p.Thr8791Met) c.26228C>T (p.Thr8743Met) c.1715C>T c.2090C>T c.1957C>T c.2222C>T (n.2222C>T) c.25157C>T (p.Thr8386Met) n.3120C>T c.5148C>T (n.5148C>T) n.10064C>T c.4251C>T (n.4251C>T) n.9956C>T c.851-2808G>A (n.851-2808G>A) n.2986C>T n.7009C>T c.2837C>T (p.Thr946Met) c.26519C>T (p.Thr8840Met) c.26507C>T (p.Thr8836Met) c.26498C>T (p.Thr8833Met) c.26477C>T (p.Thr8826Met) c.26468C>T (p.Thr8823Met) c.26462C>T (p.Thr8821Met) c.26450C>T (p.Thr8817Met) c.26447C>T (p.Thr8816Met) c.26408C>T (p.Thr8803Met) c.26393C>T (p.Thr8798Met) c.26378C>T (p.Thr8793Met) c.26366C>T (p.Thr8789Met) c.26363C>T (p.Thr8788Met) c.26360C>T (p.Thr8787Met) c.*183C>T (n.*183C>T) c.26516C>T (p.Thr8839Met) c.26504C>T (p.Thr8835Met) c.26354C>T (p.Thr8785Met) c.24794C>T (p.Thr8265Met) c.24287C>T (p.Thr8096Met) c.19754C>T (p.Thr6585Met) c.26492C>T (p.Thr8831Met) c.26441C>T (p.Thr8814Met) c.26405C>T (p.Thr8802Met) c.26252C>T (p.Thr8751Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122458G>C | CA366088448 | ESR1,SYNE1 | c.2906C>G (p.Thr969Arg) c.26372C>G (p.Thr8791Arg) c.26228C>G (p.Thr8743Arg) c.1715C>G c.2090C>G c.1957C>G c.2222C>G (n.2222C>G) c.25157C>G (p.Thr8386Arg) n.3120C>G c.5148C>G (n.5148C>G) n.10064C>G c.4251C>G (n.4251C>G) n.9956C>G c.851-2808G>C (n.851-2808G>C) n.2986C>G n.7009C>G c.2837C>G (p.Thr946Arg) c.26519C>G (p.Thr8840Arg) c.26507C>G (p.Thr8836Arg) c.26498C>G (p.Thr8833Arg) c.26477C>G (p.Thr8826Arg) c.26468C>G (p.Thr8823Arg) c.26462C>G (p.Thr8821Arg) c.26450C>G (p.Thr8817Arg) c.26447C>G (p.Thr8816Arg) c.26408C>G (p.Thr8803Arg) c.26393C>G (p.Thr8798Arg) c.26378C>G (p.Thr8793Arg) c.26366C>G (p.Thr8789Arg) c.26363C>G (p.Thr8788Arg) c.26360C>G (p.Thr8787Arg) c.*183C>G (n.*183C>G) c.26516C>G (p.Thr8839Arg) c.26504C>G (p.Thr8835Arg) c.26354C>G (p.Thr8785Arg) c.24794C>G (p.Thr8265Arg) c.24287C>G (p.Thr8096Arg) c.19754C>G (p.Thr6585Arg) c.26492C>G (p.Thr8831Arg) c.26441C>G (p.Thr8814Arg) c.26405C>G (p.Thr8802Arg) c.26252C>G (p.Thr8751Arg) | |
6 | g.152122458G= | CA1673188754 | ESR1,SYNE1 | c.2906C= (p.Thr969=) c.26372C= (p.Thr8791=) c.26228C= (p.Thr8743=) c.1715C= c.2090C= c.1957C= c.2222C= (n.2222C=) c.25157C= (p.Thr8386=) n.3120C= c.5148C= (n.5148C=) n.10064C= c.4251C= (n.4251C=) n.9956C= c.851-2808G= (n.851-2808G=) n.2986C= n.7009C= c.2837C= (p.Thr946=) c.26519C= (p.Thr8840=) c.26507C= (p.Thr8836=) c.26498C= (p.Thr8833=) c.26477C= (p.Thr8826=) c.26468C= (p.Thr8823=) c.26462C= (p.Thr8821=) c.26450C= (p.Thr8817=) c.26447C= (p.Thr8816=) c.26408C= (p.Thr8803=) c.26393C= (p.Thr8798=) c.26378C= (p.Thr8793=) c.26366C= (p.Thr8789=) c.26363C= (p.Thr8788=) c.26360C= (p.Thr8787=) c.*183C= (n.*183C=) c.26516C= (p.Thr8839=) c.26504C= (p.Thr8835=) c.26354C= (p.Thr8785=) c.24794C= (p.Thr8265=) c.24287C= (p.Thr8096=) c.19754C= (p.Thr6585=) c.26492C= (p.Thr8831=) c.26441C= (p.Thr8814=) c.26405C= (p.Thr8802=) c.26252C= (p.Thr8751=) | |
6 | g.152122458G>T | CA4052578 | ESR1,SYNE1 | c.2906C>A (p.Thr969Lys) c.26372C>A (p.Thr8791Lys) c.26228C>A (p.Thr8743Lys) c.1715C>A c.2090C>A c.1957C>A c.2222C>A (n.2222C>A) c.25157C>A (p.Thr8386Lys) n.3120C>A c.5148C>A (n.5148C>A) n.10064C>A c.4251C>A (n.4251C>A) n.9956C>A c.851-2808G>T (n.851-2808G>T) n.2986C>A n.7009C>A c.2837C>A (p.Thr946Lys) c.26519C>A (p.Thr8840Lys) c.26507C>A (p.Thr8836Lys) c.26498C>A (p.Thr8833Lys) c.26477C>A (p.Thr8826Lys) c.26468C>A (p.Thr8823Lys) c.26462C>A (p.Thr8821Lys) c.26450C>A (p.Thr8817Lys) c.26447C>A (p.Thr8816Lys) c.26408C>A (p.Thr8803Lys) c.26393C>A (p.Thr8798Lys) c.26378C>A (p.Thr8793Lys) c.26366C>A (p.Thr8789Lys) c.26363C>A (p.Thr8788Lys) c.26360C>A (p.Thr8787Lys) c.*183C>A (n.*183C>A) c.26516C>A (p.Thr8839Lys) c.26504C>A (p.Thr8835Lys) c.26354C>A (p.Thr8785Lys) c.24794C>A (p.Thr8265Lys) c.24287C>A (p.Thr8096Lys) c.19754C>A (p.Thr6585Lys) c.26492C>A (p.Thr8831Lys) c.26441C>A (p.Thr8814Lys) c.26405C>A (p.Thr8802Lys) c.26252C>A (p.Thr8751Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122459T>A | CA366088449 | ESR1,SYNE1 | c.2905A>T (p.Thr969Ser) c.26371A>T (p.Thr8791Ser) c.26227A>T (p.Thr8743Ser) c.1714A>T c.2089A>T c.1956A>T c.2221A>T (n.2221A>T) c.25156A>T (p.Thr8386Ser) n.3119A>T c.5147A>T (n.5147A>T) n.10063A>T c.4250A>T (n.4250A>T) n.9955A>T c.851-2807T>A (n.851-2807T>A) n.2985A>T n.7008A>T c.2836A>T (p.Thr946Ser) c.26518A>T (p.Thr8840Ser) c.26506A>T (p.Thr8836Ser) c.26497A>T (p.Thr8833Ser) c.26476A>T (p.Thr8826Ser) c.26467A>T (p.Thr8823Ser) c.26461A>T (p.Thr8821Ser) c.26449A>T (p.Thr8817Ser) c.26446A>T (p.Thr8816Ser) c.26407A>T (p.Thr8803Ser) c.26392A>T (p.Thr8798Ser) c.26377A>T (p.Thr8793Ser) c.26365A>T (p.Thr8789Ser) c.26362A>T (p.Thr8788Ser) c.26359A>T (p.Thr8787Ser) c.*182A>T (n.*182A>T) c.26515A>T (p.Thr8839Ser) c.26503A>T (p.Thr8835Ser) c.26353A>T (p.Thr8785Ser) c.24793A>T (p.Thr8265Ser) c.24286A>T (p.Thr8096Ser) c.19753A>T (p.Thr6585Ser) c.26491A>T (p.Thr8831Ser) c.26440A>T (p.Thr8814Ser) c.26404A>T (p.Thr8802Ser) c.26251A>T (p.Thr8751Ser) | |
6 | g.152122459T>C | CA366088450 | ESR1,SYNE1 | c.2905A>G (p.Thr969Ala) c.26371A>G (p.Thr8791Ala) c.26227A>G (p.Thr8743Ala) c.1714A>G c.2089A>G c.1956A>G c.2221A>G (n.2221A>G) c.25156A>G (p.Thr8386Ala) n.3119A>G c.5147A>G (n.5147A>G) n.10063A>G c.4250A>G (n.4250A>G) n.9955A>G c.851-2807T>C (n.851-2807T>C) n.2985A>G n.7008A>G c.2836A>G (p.Thr946Ala) c.26518A>G (p.Thr8840Ala) c.26506A>G (p.Thr8836Ala) c.26497A>G (p.Thr8833Ala) c.26476A>G (p.Thr8826Ala) c.26467A>G (p.Thr8823Ala) c.26461A>G (p.Thr8821Ala) c.26449A>G (p.Thr8817Ala) c.26446A>G (p.Thr8816Ala) c.26407A>G (p.Thr8803Ala) c.26392A>G (p.Thr8798Ala) c.26377A>G (p.Thr8793Ala) c.26365A>G (p.Thr8789Ala) c.26362A>G (p.Thr8788Ala) c.26359A>G (p.Thr8787Ala) c.*182A>G (n.*182A>G) c.26515A>G (p.Thr8839Ala) c.26503A>G (p.Thr8835Ala) c.26353A>G (p.Thr8785Ala) c.24793A>G (p.Thr8265Ala) c.24286A>G (p.Thr8096Ala) c.19753A>G (p.Thr6585Ala) c.26491A>G (p.Thr8831Ala) c.26440A>G (p.Thr8814Ala) c.26404A>G (p.Thr8802Ala) c.26251A>G (p.Thr8751Ala) | |
6 | g.152122459T>G | CA366088451 | ESR1,SYNE1 | c.2905A>C (p.Thr969Pro) c.26371A>C (p.Thr8791Pro) c.26227A>C (p.Thr8743Pro) c.1714A>C c.2089A>C c.1956A>C c.2221A>C (n.2221A>C) c.25156A>C (p.Thr8386Pro) n.3119A>C c.5147A>C (n.5147A>C) n.10063A>C c.4250A>C (n.4250A>C) n.9955A>C c.851-2807T>G (n.851-2807T>G) n.2985A>C n.7008A>C c.2836A>C (p.Thr946Pro) c.26518A>C (p.Thr8840Pro) c.26506A>C (p.Thr8836Pro) c.26497A>C (p.Thr8833Pro) c.26476A>C (p.Thr8826Pro) c.26467A>C (p.Thr8823Pro) c.26461A>C (p.Thr8821Pro) c.26449A>C (p.Thr8817Pro) c.26446A>C (p.Thr8816Pro) c.26407A>C (p.Thr8803Pro) c.26392A>C (p.Thr8798Pro) c.26377A>C (p.Thr8793Pro) c.26365A>C (p.Thr8789Pro) c.26362A>C (p.Thr8788Pro) c.26359A>C (p.Thr8787Pro) c.*182A>C (n.*182A>C) c.26515A>C (p.Thr8839Pro) c.26503A>C (p.Thr8835Pro) c.26353A>C (p.Thr8785Pro) c.24793A>C (p.Thr8265Pro) c.24286A>C (p.Thr8096Pro) c.19753A>C (p.Thr6585Pro) c.26491A>C (p.Thr8831Pro) c.26440A>C (p.Thr8814Pro) c.26404A>C (p.Thr8802Pro) c.26251A>C (p.Thr8751Pro) | |
6 | g.152122460G>A | CA4052579 | ESR1,SYNE1 | c.2904C>T (p.Tyr968=) c.26370C>T (p.Tyr8790=) c.26226C>T (p.Tyr8742=) c.1713C>T c.2088C>T c.1955C>T c.2220C>T (n.2220C>T) c.25155C>T (p.Tyr8385=) n.3118C>T c.5146C>T (n.5146C>T) n.10062C>T c.4249C>T (n.4249C>T) n.9954C>T c.851-2806G>A (n.851-2806G>A) n.2984C>T n.7007C>T c.2835C>T (p.Tyr945=) c.26517C>T (p.Tyr8839=) c.26505C>T (p.Tyr8835=) c.26496C>T (p.Tyr8832=) c.26475C>T (p.Tyr8825=) c.26466C>T (p.Tyr8822=) c.26460C>T (p.Tyr8820=) c.26448C>T (p.Tyr8816=) c.26445C>T (p.Tyr8815=) c.26406C>T (p.Tyr8802=) c.26391C>T (p.Tyr8797=) c.26376C>T (p.Tyr8792=) c.26364C>T (p.Tyr8788=) c.26361C>T (p.Tyr8787=) c.26358C>T (p.Tyr8786=) c.*181C>T (n.*181C>T) c.26514C>T (p.Tyr8838=) c.26502C>T (p.Tyr8834=) c.26352C>T (p.Tyr8784=) c.24792C>T (p.Tyr8264=) c.24285C>T (p.Tyr8095=) c.19752C>T (p.Tyr6584=) c.26490C>T (p.Tyr8830=) c.26439C>T (p.Tyr8813=) c.26403C>T (p.Tyr8801=) c.26250C>T (p.Tyr8750=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122460G>C | CA366088452 | ESR1,SYNE1 | c.2904C>G (p.Tyr968Ter) c.26370C>G (p.Tyr8790Ter) c.26226C>G (p.Tyr8742Ter) c.1713C>G c.2088C>G c.1955C>G c.2220C>G (n.2220C>G) c.25155C>G (p.Tyr8385Ter) n.3118C>G c.5146C>G (n.5146C>G) n.10062C>G c.4249C>G (n.4249C>G) n.9954C>G c.851-2806G>C (n.851-2806G>C) n.2984C>G n.7007C>G c.2835C>G (p.Tyr945Ter) c.26517C>G (p.Tyr8839Ter) c.26505C>G (p.Tyr8835Ter) c.26496C>G (p.Tyr8832Ter) c.26475C>G (p.Tyr8825Ter) c.26466C>G (p.Tyr8822Ter) c.26460C>G (p.Tyr8820Ter) c.26448C>G (p.Tyr8816Ter) c.26445C>G (p.Tyr8815Ter) c.26406C>G (p.Tyr8802Ter) c.26391C>G (p.Tyr8797Ter) c.26376C>G (p.Tyr8792Ter) c.26364C>G (p.Tyr8788Ter) c.26361C>G (p.Tyr8787Ter) c.26358C>G (p.Tyr8786Ter) c.*181C>G (n.*181C>G) c.26514C>G (p.Tyr8838Ter) c.26502C>G (p.Tyr8834Ter) c.26352C>G (p.Tyr8784Ter) c.24792C>G (p.Tyr8264Ter) c.24285C>G (p.Tyr8095Ter) c.19752C>G (p.Tyr6584Ter) c.26490C>G (p.Tyr8830Ter) c.26439C>G (p.Tyr8813Ter) c.26403C>G (p.Tyr8801Ter) c.26250C>G (p.Tyr8750Ter) | |
6 | g.152122460G= | CA1673188762 | ESR1,SYNE1 | c.2904C= (p.Tyr968=) c.26370C= (p.Tyr8790=) c.26226C= (p.Tyr8742=) c.1713C= c.2088C= c.1955C= c.2220C= (n.2220C=) c.25155C= (p.Tyr8385=) n.3118C= c.5146C= (n.5146C=) n.10062C= c.4249C= (n.4249C=) n.9954C= c.851-2806G= (n.851-2806G=) n.2984C= n.7007C= c.2835C= (p.Tyr945=) c.26517C= (p.Tyr8839=) c.26505C= (p.Tyr8835=) c.26496C= (p.Tyr8832=) c.26475C= (p.Tyr8825=) c.26466C= (p.Tyr8822=) c.26460C= (p.Tyr8820=) c.26448C= (p.Tyr8816=) c.26445C= (p.Tyr8815=) c.26406C= (p.Tyr8802=) c.26391C= (p.Tyr8797=) c.26376C= (p.Tyr8792=) c.26364C= (p.Tyr8788=) c.26361C= (p.Tyr8787=) c.26358C= (p.Tyr8786=) c.*181C= (n.*181C=) c.26514C= (p.Tyr8838=) c.26502C= (p.Tyr8834=) c.26352C= (p.Tyr8784=) c.24792C= (p.Tyr8264=) c.24285C= (p.Tyr8095=) c.19752C= (p.Tyr6584=) c.26490C= (p.Tyr8830=) c.26439C= (p.Tyr8813=) c.26403C= (p.Tyr8801=) c.26250C= (p.Tyr8750=) | |
6 | g.152122460G>T | CA10604825 | ESR1,SYNE1 | c.2904C>A (p.Tyr968Ter) c.26370C>A (p.Tyr8790Ter) c.26226C>A (p.Tyr8742Ter) c.1713C>A c.2088C>A c.1955C>A c.2220C>A (n.2220C>A) c.25155C>A (p.Tyr8385Ter) n.3118C>A c.5146C>A (n.5146C>A) n.10062C>A c.4249C>A (n.4249C>A) n.9954C>A c.851-2806G>T (n.851-2806G>T) n.2984C>A n.7007C>A c.2835C>A (p.Tyr945Ter) c.26517C>A (p.Tyr8839Ter) c.26505C>A (p.Tyr8835Ter) c.26496C>A (p.Tyr8832Ter) c.26475C>A (p.Tyr8825Ter) c.26466C>A (p.Tyr8822Ter) c.26460C>A (p.Tyr8820Ter) c.26448C>A (p.Tyr8816Ter) c.26445C>A (p.Tyr8815Ter) c.26406C>A (p.Tyr8802Ter) c.26391C>A (p.Tyr8797Ter) c.26376C>A (p.Tyr8792Ter) c.26364C>A (p.Tyr8788Ter) c.26361C>A (p.Tyr8787Ter) c.26358C>A (p.Tyr8786Ter) c.*181C>A (n.*181C>A) c.26514C>A (p.Tyr8838Ter) c.26502C>A (p.Tyr8834Ter) c.26352C>A (p.Tyr8784Ter) c.24792C>A (p.Tyr8264Ter) c.24285C>A (p.Tyr8095Ter) c.19752C>A (p.Tyr6584Ter) c.26490C>A (p.Tyr8830Ter) c.26439C>A (p.Tyr8813Ter) c.26403C>A (p.Tyr8801Ter) c.26250C>A (p.Tyr8750Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122461T>A | CA366088454 | ESR1,SYNE1 | c.2903A>T (p.Tyr968Phe) c.26369A>T (p.Tyr8790Phe) c.26225A>T (p.Tyr8742Phe) c.1712A>T c.2087A>T c.1954A>T c.2219A>T (n.2219A>T) c.25154A>T (p.Tyr8385Phe) n.3117A>T c.5145A>T (n.5145A>T) n.10061A>T c.4248A>T (n.4248A>T) n.9953A>T c.851-2805T>A (n.851-2805T>A) n.2983A>T n.7006A>T c.2834A>T (p.Tyr945Phe) c.26516A>T (p.Tyr8839Phe) c.26504A>T (p.Tyr8835Phe) c.26495A>T (p.Tyr8832Phe) c.26474A>T (p.Tyr8825Phe) c.26465A>T (p.Tyr8822Phe) c.26459A>T (p.Tyr8820Phe) c.26447A>T (p.Tyr8816Phe) c.26444A>T (p.Tyr8815Phe) c.26405A>T (p.Tyr8802Phe) c.26390A>T (p.Tyr8797Phe) c.26375A>T (p.Tyr8792Phe) c.26363A>T (p.Tyr8788Phe) c.26360A>T (p.Tyr8787Phe) c.26357A>T (p.Tyr8786Phe) c.*180A>T (n.*180A>T) c.26513A>T (p.Tyr8838Phe) c.26501A>T (p.Tyr8834Phe) c.26351A>T (p.Tyr8784Phe) c.24791A>T (p.Tyr8264Phe) c.24284A>T (p.Tyr8095Phe) c.19751A>T (p.Tyr6584Phe) c.26489A>T (p.Tyr8830Phe) c.26438A>T (p.Tyr8813Phe) c.26402A>T (p.Tyr8801Phe) c.26249A>T (p.Tyr8750Phe) | |
6 | g.152122461T>C | CA366088456 | ESR1,SYNE1 | c.2903A>G (p.Tyr968Cys) c.26369A>G (p.Tyr8790Cys) c.26225A>G (p.Tyr8742Cys) c.1712A>G c.2087A>G c.1954A>G c.2219A>G (n.2219A>G) c.25154A>G (p.Tyr8385Cys) n.3117A>G c.5145A>G (n.5145A>G) n.10061A>G c.4248A>G (n.4248A>G) n.9953A>G c.851-2805T>C (n.851-2805T>C) n.2983A>G n.7006A>G c.2834A>G (p.Tyr945Cys) c.26516A>G (p.Tyr8839Cys) c.26504A>G (p.Tyr8835Cys) c.26495A>G (p.Tyr8832Cys) c.26474A>G (p.Tyr8825Cys) c.26465A>G (p.Tyr8822Cys) c.26459A>G (p.Tyr8820Cys) c.26447A>G (p.Tyr8816Cys) c.26444A>G (p.Tyr8815Cys) c.26405A>G (p.Tyr8802Cys) c.26390A>G (p.Tyr8797Cys) c.26375A>G (p.Tyr8792Cys) c.26363A>G (p.Tyr8788Cys) c.26360A>G (p.Tyr8787Cys) c.26357A>G (p.Tyr8786Cys) c.*180A>G (n.*180A>G) c.26513A>G (p.Tyr8838Cys) c.26501A>G (p.Tyr8834Cys) c.26351A>G (p.Tyr8784Cys) c.24791A>G (p.Tyr8264Cys) c.24284A>G (p.Tyr8095Cys) c.19751A>G (p.Tyr6584Cys) c.26489A>G (p.Tyr8830Cys) c.26438A>G (p.Tyr8813Cys) c.26402A>G (p.Tyr8801Cys) c.26249A>G (p.Tyr8750Cys) | |
6 | g.152122461T>G | CA366088458 | ESR1,SYNE1 | c.2903A>C (p.Tyr968Ser) c.26369A>C (p.Tyr8790Ser) c.26225A>C (p.Tyr8742Ser) c.1712A>C c.2087A>C c.1954A>C c.2219A>C (n.2219A>C) c.25154A>C (p.Tyr8385Ser) n.3117A>C c.5145A>C (n.5145A>C) n.10061A>C c.4248A>C (n.4248A>C) n.9953A>C c.851-2805T>G (n.851-2805T>G) n.2983A>C n.7006A>C c.2834A>C (p.Tyr945Ser) c.26516A>C (p.Tyr8839Ser) c.26504A>C (p.Tyr8835Ser) c.26495A>C (p.Tyr8832Ser) c.26474A>C (p.Tyr8825Ser) c.26465A>C (p.Tyr8822Ser) c.26459A>C (p.Tyr8820Ser) c.26447A>C (p.Tyr8816Ser) c.26444A>C (p.Tyr8815Ser) c.26405A>C (p.Tyr8802Ser) c.26390A>C (p.Tyr8797Ser) c.26375A>C (p.Tyr8792Ser) c.26363A>C (p.Tyr8788Ser) c.26360A>C (p.Tyr8787Ser) c.26357A>C (p.Tyr8786Ser) c.*180A>C (n.*180A>C) c.26513A>C (p.Tyr8838Ser) c.26501A>C (p.Tyr8834Ser) c.26351A>C (p.Tyr8784Ser) c.24791A>C (p.Tyr8264Ser) c.24284A>C (p.Tyr8095Ser) c.19751A>C (p.Tyr6584Ser) c.26489A>C (p.Tyr8830Ser) c.26438A>C (p.Tyr8813Ser) c.26402A>C (p.Tyr8801Ser) c.26249A>C (p.Tyr8750Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152122461T= | CA1673188767 | ESR1,SYNE1 | c.2903A= (p.Tyr968=) c.26369A= (p.Tyr8790=) c.26225A= (p.Tyr8742=) c.1712A= c.2087A= c.1954A= c.2219A= (n.2219A=) c.25154A= (p.Tyr8385=) n.3117A= c.5145A= (n.5145A=) n.10061A= c.4248A= (n.4248A=) n.9953A= c.851-2805T= (n.851-2805T=) n.2983A= n.7006A= c.2834A= (p.Tyr945=) c.26516A= (p.Tyr8839=) c.26504A= (p.Tyr8835=) c.26495A= (p.Tyr8832=) c.26474A= (p.Tyr8825=) c.26465A= (p.Tyr8822=) c.26459A= (p.Tyr8820=) c.26447A= (p.Tyr8816=) c.26444A= (p.Tyr8815=) c.26405A= (p.Tyr8802=) c.26390A= (p.Tyr8797=) c.26375A= (p.Tyr8792=) c.26363A= (p.Tyr8788=) c.26360A= (p.Tyr8787=) c.26357A= (p.Tyr8786=) c.*180A= (n.*180A=) c.26513A= (p.Tyr8838=) c.26501A= (p.Tyr8834=) c.26351A= (p.Tyr8784=) c.24791A= (p.Tyr8264=) c.24284A= (p.Tyr8095=) c.19751A= (p.Tyr6584=) c.26489A= (p.Tyr8830=) c.26438A= (p.Tyr8813=) c.26402A= (p.Tyr8801=) c.26249A= (p.Tyr8750=) | |
6 | g.152122462A= | CA1673188770 | ESR1,SYNE1 | c.2902T= (p.Tyr968=) c.26368T= (p.Tyr8790=) c.26224T= (p.Tyr8742=) c.1711T= c.2086T= c.1953T= c.2218T= (n.2218T=) c.25153T= (p.Tyr8385=) n.3116T= c.5144T= (n.5144T=) n.10060T= c.4247T= (n.4247T=) n.9952T= c.851-2804A= (n.851-2804A=) n.2982T= n.7005T= c.2833T= (p.Tyr945=) c.26515T= (p.Tyr8839=) c.26503T= (p.Tyr8835=) c.26494T= (p.Tyr8832=) c.26473T= (p.Tyr8825=) c.26464T= (p.Tyr8822=) c.26458T= (p.Tyr8820=) c.26446T= (p.Tyr8816=) c.26443T= (p.Tyr8815=) c.26404T= (p.Tyr8802=) c.26389T= (p.Tyr8797=) c.26374T= (p.Tyr8792=) c.26362T= (p.Tyr8788=) c.26359T= (p.Tyr8787=) c.26356T= (p.Tyr8786=) c.*179T= (n.*179T=) c.26512T= (p.Tyr8838=) c.26500T= (p.Tyr8834=) c.26350T= (p.Tyr8784=) c.24790T= (p.Tyr8264=) c.24283T= (p.Tyr8095=) c.19750T= (p.Tyr6584=) c.26488T= (p.Tyr8830=) c.26437T= (p.Tyr8813=) c.26401T= (p.Tyr8801=) c.26248T= (p.Tyr8750=) | |
6 | g.152122462A>C | CA366088460 | ESR1,SYNE1 | c.2902T>G (p.Tyr968Asp) c.26368T>G (p.Tyr8790Asp) c.26224T>G (p.Tyr8742Asp) c.1711T>G c.2086T>G c.1953T>G c.2218T>G (n.2218T>G) c.25153T>G (p.Tyr8385Asp) n.3116T>G c.5144T>G (n.5144T>G) n.10060T>G c.4247T>G (n.4247T>G) n.9952T>G c.851-2804A>C (n.851-2804A>C) n.2982T>G n.7005T>G c.2833T>G (p.Tyr945Asp) c.26515T>G (p.Tyr8839Asp) c.26503T>G (p.Tyr8835Asp) c.26494T>G (p.Tyr8832Asp) c.26473T>G (p.Tyr8825Asp) c.26464T>G (p.Tyr8822Asp) c.26458T>G (p.Tyr8820Asp) c.26446T>G (p.Tyr8816Asp) c.26443T>G (p.Tyr8815Asp) c.26404T>G (p.Tyr8802Asp) c.26389T>G (p.Tyr8797Asp) c.26374T>G (p.Tyr8792Asp) c.26362T>G (p.Tyr8788Asp) c.26359T>G (p.Tyr8787Asp) c.26356T>G (p.Tyr8786Asp) c.*179T>G (n.*179T>G) c.26512T>G (p.Tyr8838Asp) c.26500T>G (p.Tyr8834Asp) c.26350T>G (p.Tyr8784Asp) c.24790T>G (p.Tyr8264Asp) c.24283T>G (p.Tyr8095Asp) c.19750T>G (p.Tyr6584Asp) c.26488T>G (p.Tyr8830Asp) c.26437T>G (p.Tyr8813Asp) c.26401T>G (p.Tyr8801Asp) c.26248T>G (p.Tyr8750Asp) | |
6 | g.152122462A>G | CA366088462 | ESR1,SYNE1 | c.2902T>C (p.Tyr968His) c.26368T>C (p.Tyr8790His) c.26224T>C (p.Tyr8742His) c.1711T>C c.2086T>C c.1953T>C c.2218T>C (n.2218T>C) c.25153T>C (p.Tyr8385His) n.3116T>C c.5144T>C (n.5144T>C) n.10060T>C c.4247T>C (n.4247T>C) n.9952T>C c.851-2804A>G (n.851-2804A>G) n.2982T>C n.7005T>C c.2833T>C (p.Tyr945His) c.26515T>C (p.Tyr8839His) c.26503T>C (p.Tyr8835His) c.26494T>C (p.Tyr8832His) c.26473T>C (p.Tyr8825His) c.26464T>C (p.Tyr8822His) c.26458T>C (p.Tyr8820His) c.26446T>C (p.Tyr8816His) c.26443T>C (p.Tyr8815His) c.26404T>C (p.Tyr8802His) c.26389T>C (p.Tyr8797His) c.26374T>C (p.Tyr8792His) c.26362T>C (p.Tyr8788His) c.26359T>C (p.Tyr8787His) c.26356T>C (p.Tyr8786His) c.*179T>C (n.*179T>C) c.26512T>C (p.Tyr8838His) c.26500T>C (p.Tyr8834His) c.26350T>C (p.Tyr8784His) c.24790T>C (p.Tyr8264His) c.24283T>C (p.Tyr8095His) c.19750T>C (p.Tyr6584His) c.26488T>C (p.Tyr8830His) c.26437T>C (p.Tyr8813His) c.26401T>C (p.Tyr8801His) c.26248T>C (p.Tyr8750His) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122462A>T | CA366088464 | ESR1,SYNE1 | c.2902T>A (p.Tyr968Asn) c.26368T>A (p.Tyr8790Asn) c.26224T>A (p.Tyr8742Asn) c.1711T>A c.2086T>A c.1953T>A c.2218T>A (n.2218T>A) c.25153T>A (p.Tyr8385Asn) n.3116T>A c.5144T>A (n.5144T>A) n.10060T>A c.4247T>A (n.4247T>A) n.9952T>A c.851-2804A>T (n.851-2804A>T) n.2982T>A n.7005T>A c.2833T>A (p.Tyr945Asn) c.26515T>A (p.Tyr8839Asn) c.26503T>A (p.Tyr8835Asn) c.26494T>A (p.Tyr8832Asn) c.26473T>A (p.Tyr8825Asn) c.26464T>A (p.Tyr8822Asn) c.26458T>A (p.Tyr8820Asn) c.26446T>A (p.Tyr8816Asn) c.26443T>A (p.Tyr8815Asn) c.26404T>A (p.Tyr8802Asn) c.26389T>A (p.Tyr8797Asn) c.26374T>A (p.Tyr8792Asn) c.26362T>A (p.Tyr8788Asn) c.26359T>A (p.Tyr8787Asn) c.26356T>A (p.Tyr8786Asn) c.*179T>A (n.*179T>A) c.26512T>A (p.Tyr8838Asn) c.26500T>A (p.Tyr8834Asn) c.26350T>A (p.Tyr8784Asn) c.24790T>A (p.Tyr8264Asn) c.24283T>A (p.Tyr8095Asn) c.19750T>A (p.Tyr6584Asn) c.26488T>A (p.Tyr8830Asn) c.26437T>A (p.Tyr8813Asn) c.26401T>A (p.Tyr8801Asn) c.26248T>A (p.Tyr8750Asn) | |
6 | g.152122463T>A | CA366088467 | ESR1,SYNE1 | c.2901A>T (p.Arg967Ser) c.26367A>T (p.Arg8789Ser) c.26223A>T (p.Arg8741Ser) c.1710A>T c.2085A>T c.1952A>T c.2217A>T (n.2217A>T) c.25152A>T (p.Arg8384Ser) n.3115A>T c.5143A>T (n.5143A>T) n.10059A>T c.4246A>T (n.4246A>T) n.9951A>T c.851-2803T>A (n.851-2803T>A) n.2981A>T n.7004A>T c.2832A>T (p.Arg944Ser) c.26514A>T (p.Arg8838Ser) c.26502A>T (p.Arg8834Ser) c.26493A>T (p.Arg8831Ser) c.26472A>T (p.Arg8824Ser) c.26463A>T (p.Arg8821Ser) c.26457A>T (p.Arg8819Ser) c.26445A>T (p.Arg8815Ser) c.26442A>T (p.Arg8814Ser) c.26403A>T (p.Arg8801Ser) c.26388A>T (p.Arg8796Ser) c.26373A>T (p.Arg8791Ser) c.26361A>T (p.Arg8787Ser) c.26358A>T (p.Arg8786Ser) c.26355A>T (p.Arg8785Ser) c.*178A>T (n.*178A>T) c.26511A>T (p.Arg8837Ser) c.26499A>T (p.Arg8833Ser) c.26349A>T (p.Arg8783Ser) c.24789A>T (p.Arg8263Ser) c.24282A>T (p.Arg8094Ser) c.19749A>T (p.Arg6583Ser) c.26487A>T (p.Arg8829Ser) c.26436A>T (p.Arg8812Ser) c.26400A>T (p.Arg8800Ser) c.26247A>T (p.Arg8749Ser) | |
6 | g.152122463T>C | CA452969492 | ESR1,SYNE1 | c.2901A>G (p.Arg967=) c.26367A>G (p.Arg8789=) c.26223A>G (p.Arg8741=) c.1710A>G c.2085A>G c.1952A>G c.2217A>G (n.2217A>G) c.25152A>G (p.Arg8384=) n.3115A>G c.5143A>G (n.5143A>G) n.10059A>G c.4246A>G (n.4246A>G) n.9951A>G c.851-2803T>C (n.851-2803T>C) n.2981A>G n.7004A>G c.2832A>G (p.Arg944=) c.26514A>G (p.Arg8838=) c.26502A>G (p.Arg8834=) c.26493A>G (p.Arg8831=) c.26472A>G (p.Arg8824=) c.26463A>G (p.Arg8821=) c.26457A>G (p.Arg8819=) c.26445A>G (p.Arg8815=) c.26442A>G (p.Arg8814=) c.26403A>G (p.Arg8801=) c.26388A>G (p.Arg8796=) c.26373A>G (p.Arg8791=) c.26361A>G (p.Arg8787=) c.26358A>G (p.Arg8786=) c.26355A>G (p.Arg8785=) c.*178A>G (n.*178A>G) c.26511A>G (p.Arg8837=) c.26499A>G (p.Arg8833=) c.26349A>G (p.Arg8783=) c.24789A>G (p.Arg8263=) c.24282A>G (p.Arg8094=) c.19749A>G (p.Arg6583=) c.26487A>G (p.Arg8829=) c.26436A>G (p.Arg8812=) c.26400A>G (p.Arg8800=) c.26247A>G (p.Arg8749=) | |
6 | g.152122463T>G | CA366088469 | ESR1,SYNE1 | c.2901A>C (p.Arg967Ser) c.26367A>C (p.Arg8789Ser) c.26223A>C (p.Arg8741Ser) c.1710A>C c.2085A>C c.1952A>C c.2217A>C (n.2217A>C) c.25152A>C (p.Arg8384Ser) n.3115A>C c.5143A>C (n.5143A>C) n.10059A>C c.4246A>C (n.4246A>C) n.9951A>C c.851-2803T>G (n.851-2803T>G) n.2981A>C n.7004A>C c.2832A>C (p.Arg944Ser) c.26514A>C (p.Arg8838Ser) c.26502A>C (p.Arg8834Ser) c.26493A>C (p.Arg8831Ser) c.26472A>C (p.Arg8824Ser) c.26463A>C (p.Arg8821Ser) c.26457A>C (p.Arg8819Ser) c.26445A>C (p.Arg8815Ser) c.26442A>C (p.Arg8814Ser) c.26403A>C (p.Arg8801Ser) c.26388A>C (p.Arg8796Ser) c.26373A>C (p.Arg8791Ser) c.26361A>C (p.Arg8787Ser) c.26358A>C (p.Arg8786Ser) c.26355A>C (p.Arg8785Ser) c.*178A>C (n.*178A>C) c.26511A>C (p.Arg8837Ser) c.26499A>C (p.Arg8833Ser) c.26349A>C (p.Arg8783Ser) c.24789A>C (p.Arg8263Ser) c.24282A>C (p.Arg8094Ser) c.19749A>C (p.Arg6583Ser) c.26487A>C (p.Arg8829Ser) c.26436A>C (p.Arg8812Ser) c.26400A>C (p.Arg8800Ser) c.26247A>C (p.Arg8749Ser) | |
6 | g.152122464C>A | CA366088471 | ESR1,SYNE1 | c.2900G>T (p.Arg967Ile) c.26366G>T (p.Arg8789Ile) c.26222G>T (p.Arg8741Ile) c.1709G>T c.2084G>T c.1951G>T c.2216G>T (n.2216G>T) c.25151G>T (p.Arg8384Ile) n.3114G>T c.5142G>T (n.5142G>T) n.10058G>T c.4245G>T (n.4245G>T) n.9950G>T c.851-2802C>A (n.851-2802C>A) n.2980G>T n.7003G>T c.2831G>T (p.Arg944Ile) c.26513G>T (p.Arg8838Ile) c.26501G>T (p.Arg8834Ile) c.26492G>T (p.Arg8831Ile) c.26471G>T (p.Arg8824Ile) c.26462G>T (p.Arg8821Ile) c.26456G>T (p.Arg8819Ile) c.26444G>T (p.Arg8815Ile) c.26441G>T (p.Arg8814Ile) c.26402G>T (p.Arg8801Ile) c.26387G>T (p.Arg8796Ile) c.26372G>T (p.Arg8791Ile) c.26360G>T (p.Arg8787Ile) c.26357G>T (p.Arg8786Ile) c.26354G>T (p.Arg8785Ile) c.*177G>T (n.*177G>T) c.26510G>T (p.Arg8837Ile) c.26498G>T (p.Arg8833Ile) c.26348G>T (p.Arg8783Ile) c.24788G>T (p.Arg8263Ile) c.24281G>T (p.Arg8094Ile) c.19748G>T (p.Arg6583Ile) c.26486G>T (p.Arg8829Ile) c.26435G>T (p.Arg8812Ile) c.26399G>T (p.Arg8800Ile) c.26246G>T (p.Arg8749Ile) | |
6 | g.152122464C= | CA1673188774 | ESR1,SYNE1 | c.2900G= (p.Arg967=) c.26366G= (p.Arg8789=) c.26222G= (p.Arg8741=) c.1709G= c.2084G= c.1951G= c.2216G= (n.2216G=) c.25151G= (p.Arg8384=) n.3114G= c.5142G= (n.5142G=) n.10058G= c.4245G= (n.4245G=) n.9950G= c.851-2802C= (n.851-2802C=) n.2980G= n.7003G= c.2831G= (p.Arg944=) c.26513G= (p.Arg8838=) c.26501G= (p.Arg8834=) c.26492G= (p.Arg8831=) c.26471G= (p.Arg8824=) c.26462G= (p.Arg8821=) c.26456G= (p.Arg8819=) c.26444G= (p.Arg8815=) c.26441G= (p.Arg8814=) c.26402G= (p.Arg8801=) c.26387G= (p.Arg8796=) c.26372G= (p.Arg8791=) c.26360G= (p.Arg8787=) c.26357G= (p.Arg8786=) c.26354G= (p.Arg8785=) c.*177G= (n.*177G=) c.26510G= (p.Arg8837=) c.26498G= (p.Arg8833=) c.26348G= (p.Arg8783=) c.24788G= (p.Arg8263=) c.24281G= (p.Arg8094=) c.19748G= (p.Arg6583=) c.26486G= (p.Arg8829=) c.26435G= (p.Arg8812=) c.26399G= (p.Arg8800=) c.26246G= (p.Arg8749=) | |
6 | g.152122464C>G | CA366088473 | ESR1,SYNE1 | c.2900G>C (p.Arg967Thr) c.26366G>C (p.Arg8789Thr) c.26222G>C (p.Arg8741Thr) c.1709G>C c.2084G>C c.1951G>C c.2216G>C (n.2216G>C) c.25151G>C (p.Arg8384Thr) n.3114G>C c.5142G>C (n.5142G>C) n.10058G>C c.4245G>C (n.4245G>C) n.9950G>C c.851-2802C>G (n.851-2802C>G) n.2980G>C n.7003G>C c.2831G>C (p.Arg944Thr) c.26513G>C (p.Arg8838Thr) c.26501G>C (p.Arg8834Thr) c.26492G>C (p.Arg8831Thr) c.26471G>C (p.Arg8824Thr) c.26462G>C (p.Arg8821Thr) c.26456G>C (p.Arg8819Thr) c.26444G>C (p.Arg8815Thr) c.26441G>C (p.Arg8814Thr) c.26402G>C (p.Arg8801Thr) c.26387G>C (p.Arg8796Thr) c.26372G>C (p.Arg8791Thr) c.26360G>C (p.Arg8787Thr) c.26357G>C (p.Arg8786Thr) c.26354G>C (p.Arg8785Thr) c.*177G>C (n.*177G>C) c.26510G>C (p.Arg8837Thr) c.26498G>C (p.Arg8833Thr) c.26348G>C (p.Arg8783Thr) c.24788G>C (p.Arg8263Thr) c.24281G>C (p.Arg8094Thr) c.19748G>C (p.Arg6583Thr) c.26486G>C (p.Arg8829Thr) c.26435G>C (p.Arg8812Thr) c.26399G>C (p.Arg8800Thr) c.26246G>C (p.Arg8749Thr) | |
6 | g.152122464C>T | CA366088474 | ESR1,SYNE1 | c.2900G>A (p.Arg967Lys) c.26366G>A (p.Arg8789Lys) c.26222G>A (p.Arg8741Lys) c.1709G>A c.2084G>A c.1951G>A c.2216G>A (n.2216G>A) c.25151G>A (p.Arg8384Lys) n.3114G>A c.5142G>A (n.5142G>A) n.10058G>A c.4245G>A (n.4245G>A) n.9950G>A c.851-2802C>T (n.851-2802C>T) n.2980G>A n.7003G>A c.2831G>A (p.Arg944Lys) c.26513G>A (p.Arg8838Lys) c.26501G>A (p.Arg8834Lys) c.26492G>A (p.Arg8831Lys) c.26471G>A (p.Arg8824Lys) c.26462G>A (p.Arg8821Lys) c.26456G>A (p.Arg8819Lys) c.26444G>A (p.Arg8815Lys) c.26441G>A (p.Arg8814Lys) c.26402G>A (p.Arg8801Lys) c.26387G>A (p.Arg8796Lys) c.26372G>A (p.Arg8791Lys) c.26360G>A (p.Arg8787Lys) c.26357G>A (p.Arg8786Lys) c.26354G>A (p.Arg8785Lys) c.*177G>A (n.*177G>A) c.26510G>A (p.Arg8837Lys) c.26498G>A (p.Arg8833Lys) c.26348G>A (p.Arg8783Lys) c.24788G>A (p.Arg8263Lys) c.24281G>A (p.Arg8094Lys) c.19748G>A (p.Arg6583Lys) c.26486G>A (p.Arg8829Lys) c.26435G>A (p.Arg8812Lys) c.26399G>A (p.Arg8800Lys) c.26246G>A (p.Arg8749Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122465T>A | CA366088476 | ESR1,SYNE1 | c.2899A>T (p.Arg967Ter) c.26365A>T (p.Arg8789Ter) c.26221A>T (p.Arg8741Ter) c.1708A>T c.2083A>T c.1950A>T c.2215A>T (n.2215A>T) c.25150A>T (p.Arg8384Ter) n.3113A>T c.5141A>T (n.5141A>T) n.10057A>T c.4244A>T (n.4244A>T) n.9949A>T c.851-2801T>A (n.851-2801T>A) n.2979A>T n.7002A>T c.2830A>T (p.Arg944Ter) c.26512A>T (p.Arg8838Ter) c.26500A>T (p.Arg8834Ter) c.26491A>T (p.Arg8831Ter) c.26470A>T (p.Arg8824Ter) c.26461A>T (p.Arg8821Ter) c.26455A>T (p.Arg8819Ter) c.26443A>T (p.Arg8815Ter) c.26440A>T (p.Arg8814Ter) c.26401A>T (p.Arg8801Ter) c.26386A>T (p.Arg8796Ter) c.26371A>T (p.Arg8791Ter) c.26359A>T (p.Arg8787Ter) c.26356A>T (p.Arg8786Ter) c.26353A>T (p.Arg8785Ter) c.*176A>T (n.*176A>T) c.26509A>T (p.Arg8837Ter) c.26497A>T (p.Arg8833Ter) c.26347A>T (p.Arg8783Ter) c.24787A>T (p.Arg8263Ter) c.24280A>T (p.Arg8094Ter) c.19747A>T (p.Arg6583Ter) c.26485A>T (p.Arg8829Ter) c.26434A>T (p.Arg8812Ter) c.26398A>T (p.Arg8800Ter) c.26245A>T (p.Arg8749Ter) | |
6 | g.152122465T>C | CA366088478 | ESR1,SYNE1 | c.2899A>G (p.Arg967Gly) c.26365A>G (p.Arg8789Gly) c.26221A>G (p.Arg8741Gly) c.1708A>G c.2083A>G c.1950A>G c.2215A>G (n.2215A>G) c.25150A>G (p.Arg8384Gly) n.3113A>G c.5141A>G (n.5141A>G) n.10057A>G c.4244A>G (n.4244A>G) n.9949A>G c.851-2801T>C (n.851-2801T>C) n.2979A>G n.7002A>G c.2830A>G (p.Arg944Gly) c.26512A>G (p.Arg8838Gly) c.26500A>G (p.Arg8834Gly) c.26491A>G (p.Arg8831Gly) c.26470A>G (p.Arg8824Gly) c.26461A>G (p.Arg8821Gly) c.26455A>G (p.Arg8819Gly) c.26443A>G (p.Arg8815Gly) c.26440A>G (p.Arg8814Gly) c.26401A>G (p.Arg8801Gly) c.26386A>G (p.Arg8796Gly) c.26371A>G (p.Arg8791Gly) c.26359A>G (p.Arg8787Gly) c.26356A>G (p.Arg8786Gly) c.26353A>G (p.Arg8785Gly) c.*176A>G (n.*176A>G) c.26509A>G (p.Arg8837Gly) c.26497A>G (p.Arg8833Gly) c.26347A>G (p.Arg8783Gly) c.24787A>G (p.Arg8263Gly) c.24280A>G (p.Arg8094Gly) c.19747A>G (p.Arg6583Gly) c.26485A>G (p.Arg8829Gly) c.26434A>G (p.Arg8812Gly) c.26398A>G (p.Arg8800Gly) c.26245A>G (p.Arg8749Gly) | |
6 | g.152122465T>G | CA452969500 | ESR1,SYNE1 | c.2899A>C (p.Arg967=) c.26365A>C (p.Arg8789=) c.26221A>C (p.Arg8741=) c.1708A>C c.2083A>C c.1950A>C c.2215A>C (n.2215A>C) c.25150A>C (p.Arg8384=) n.3113A>C c.5141A>C (n.5141A>C) n.10057A>C c.4244A>C (n.4244A>C) n.9949A>C c.851-2801T>G (n.851-2801T>G) n.2979A>C n.7002A>C c.2830A>C (p.Arg944=) c.26512A>C (p.Arg8838=) c.26500A>C (p.Arg8834=) c.26491A>C (p.Arg8831=) c.26470A>C (p.Arg8824=) c.26461A>C (p.Arg8821=) c.26455A>C (p.Arg8819=) c.26443A>C (p.Arg8815=) c.26440A>C (p.Arg8814=) c.26401A>C (p.Arg8801=) c.26386A>C (p.Arg8796=) c.26371A>C (p.Arg8791=) c.26359A>C (p.Arg8787=) c.26356A>C (p.Arg8786=) c.26353A>C (p.Arg8785=) c.*176A>C (n.*176A>C) c.26509A>C (p.Arg8837=) c.26497A>C (p.Arg8833=) c.26347A>C (p.Arg8783=) c.24787A>C (p.Arg8263=) c.24280A>C (p.Arg8094=) c.19747A>C (p.Arg6583=) c.26485A>C (p.Arg8829=) c.26434A>C (p.Arg8812=) c.26398A>C (p.Arg8800=) c.26245A>C (p.Arg8749=) | |
6 | g.152122466G>A | CA452969502 | ESR1,SYNE1 | c.2898C>T (p.Leu966=) c.26364C>T (p.Leu8788=) c.26220C>T (p.Leu8740=) c.1707C>T c.2082C>T c.1949C>T c.2214C>T (n.2214C>T) c.25149C>T (p.Leu8383=) n.3112C>T c.5140C>T (n.5140C>T) n.10056C>T c.4243C>T (n.4243C>T) n.9948C>T c.851-2800G>A (n.851-2800G>A) n.2978C>T n.7001C>T c.2829C>T (p.Leu943=) c.26511C>T (p.Leu8837=) c.26499C>T (p.Leu8833=) c.26490C>T (p.Leu8830=) c.26469C>T (p.Leu8823=) c.26460C>T (p.Leu8820=) c.26454C>T (p.Leu8818=) c.26442C>T (p.Leu8814=) c.26439C>T (p.Leu8813=) c.26400C>T (p.Leu8800=) c.26385C>T (p.Leu8795=) c.26370C>T (p.Leu8790=) c.26358C>T (p.Leu8786=) c.26355C>T (p.Leu8785=) c.26352C>T (p.Leu8784=) c.*175C>T (n.*175C>T) c.26508C>T (p.Leu8836=) c.26496C>T (p.Leu8832=) c.26346C>T (p.Leu8782=) c.24786C>T (p.Leu8262=) c.24279C>T (p.Leu8093=) c.19746C>T (p.Leu6582=) c.26484C>T (p.Leu8828=) c.26433C>T (p.Leu8811=) c.26397C>T (p.Leu8799=) c.26244C>T (p.Leu8748=) | gnomAD v4 |
6 | g.152122466G>C | CA452969503 | ESR1,SYNE1 | c.2898C>G (p.Leu966=) c.26364C>G (p.Leu8788=) c.26220C>G (p.Leu8740=) c.1707C>G c.2082C>G c.1949C>G c.2214C>G (n.2214C>G) c.25149C>G (p.Leu8383=) n.3112C>G c.5140C>G (n.5140C>G) n.10056C>G c.4243C>G (n.4243C>G) n.9948C>G c.851-2800G>C (n.851-2800G>C) n.2978C>G n.7001C>G c.2829C>G (p.Leu943=) c.26511C>G (p.Leu8837=) c.26499C>G (p.Leu8833=) c.26490C>G (p.Leu8830=) c.26469C>G (p.Leu8823=) c.26460C>G (p.Leu8820=) c.26454C>G (p.Leu8818=) c.26442C>G (p.Leu8814=) c.26439C>G (p.Leu8813=) c.26400C>G (p.Leu8800=) c.26385C>G (p.Leu8795=) c.26370C>G (p.Leu8790=) c.26358C>G (p.Leu8786=) c.26355C>G (p.Leu8785=) c.26352C>G (p.Leu8784=) c.*175C>G (n.*175C>G) c.26508C>G (p.Leu8836=) c.26496C>G (p.Leu8832=) c.26346C>G (p.Leu8782=) c.24786C>G (p.Leu8262=) c.24279C>G (p.Leu8093=) c.19746C>G (p.Leu6582=) c.26484C>G (p.Leu8828=) c.26433C>G (p.Leu8811=) c.26397C>G (p.Leu8799=) c.26244C>G (p.Leu8748=) | |
6 | g.152122466G>T | CA452969504 | ESR1,SYNE1 | c.2898C>A (p.Leu966=) c.26364C>A (p.Leu8788=) c.26220C>A (p.Leu8740=) c.1707C>A c.2082C>A c.1949C>A c.2214C>A (n.2214C>A) c.25149C>A (p.Leu8383=) n.3112C>A c.5140C>A (n.5140C>A) n.10056C>A c.4243C>A (n.4243C>A) n.9948C>A c.851-2800G>T (n.851-2800G>T) n.2978C>A n.7001C>A c.2829C>A (p.Leu943=) c.26511C>A (p.Leu8837=) c.26499C>A (p.Leu8833=) c.26490C>A (p.Leu8830=) c.26469C>A (p.Leu8823=) c.26460C>A (p.Leu8820=) c.26454C>A (p.Leu8818=) c.26442C>A (p.Leu8814=) c.26439C>A (p.Leu8813=) c.26400C>A (p.Leu8800=) c.26385C>A (p.Leu8795=) c.26370C>A (p.Leu8790=) c.26358C>A (p.Leu8786=) c.26355C>A (p.Leu8785=) c.26352C>A (p.Leu8784=) c.*175C>A (n.*175C>A) c.26508C>A (p.Leu8836=) c.26496C>A (p.Leu8832=) c.26346C>A (p.Leu8782=) c.24786C>A (p.Leu8262=) c.24279C>A (p.Leu8093=) c.19746C>A (p.Leu6582=) c.26484C>A (p.Leu8828=) c.26433C>A (p.Leu8811=) c.26397C>A (p.Leu8799=) c.26244C>A (p.Leu8748=) | |
6 | g.152122467A>C | CA366088484 | ESR1,SYNE1 | c.2897T>G (p.Leu966Arg) c.26363T>G (p.Leu8788Arg) c.26219T>G (p.Leu8740Arg) c.1706T>G c.2081T>G c.1948T>G c.2213T>G (n.2213T>G) c.25148T>G (p.Leu8383Arg) n.3111T>G c.5139T>G (n.5139T>G) n.10055T>G c.4242T>G (n.4242T>G) n.9947T>G c.851-2799A>C (n.851-2799A>C) n.2977T>G n.7000T>G c.2828T>G (p.Leu943Arg) c.26510T>G (p.Leu8837Arg) c.26498T>G (p.Leu8833Arg) c.26489T>G (p.Leu8830Arg) c.26468T>G (p.Leu8823Arg) c.26459T>G (p.Leu8820Arg) c.26453T>G (p.Leu8818Arg) c.26441T>G (p.Leu8814Arg) c.26438T>G (p.Leu8813Arg) c.26399T>G (p.Leu8800Arg) c.26384T>G (p.Leu8795Arg) c.26369T>G (p.Leu8790Arg) c.26357T>G (p.Leu8786Arg) c.26354T>G (p.Leu8785Arg) c.26351T>G (p.Leu8784Arg) c.*174T>G (n.*174T>G) c.26507T>G (p.Leu8836Arg) c.26495T>G (p.Leu8832Arg) c.26345T>G (p.Leu8782Arg) c.24785T>G (p.Leu8262Arg) c.24278T>G (p.Leu8093Arg) c.19745T>G (p.Leu6582Arg) c.26483T>G (p.Leu8828Arg) c.26432T>G (p.Leu8811Arg) c.26396T>G (p.Leu8799Arg) c.26243T>G (p.Leu8748Arg) | |
6 | g.152122467A>G | CA366088480 | ESR1,SYNE1 | c.2897T>C (p.Leu966Pro) c.26363T>C (p.Leu8788Pro) c.26219T>C (p.Leu8740Pro) c.1706T>C c.2081T>C c.1948T>C c.2213T>C (n.2213T>C) c.25148T>C (p.Leu8383Pro) n.3111T>C c.5139T>C (n.5139T>C) n.10055T>C c.4242T>C (n.4242T>C) n.9947T>C c.851-2799A>G (n.851-2799A>G) n.2977T>C n.7000T>C c.2828T>C (p.Leu943Pro) c.26510T>C (p.Leu8837Pro) c.26498T>C (p.Leu8833Pro) c.26489T>C (p.Leu8830Pro) c.26468T>C (p.Leu8823Pro) c.26459T>C (p.Leu8820Pro) c.26453T>C (p.Leu8818Pro) c.26441T>C (p.Leu8814Pro) c.26438T>C (p.Leu8813Pro) c.26399T>C (p.Leu8800Pro) c.26384T>C (p.Leu8795Pro) c.26369T>C (p.Leu8790Pro) c.26357T>C (p.Leu8786Pro) c.26354T>C (p.Leu8785Pro) c.26351T>C (p.Leu8784Pro) c.*174T>C (n.*174T>C) c.26507T>C (p.Leu8836Pro) c.26495T>C (p.Leu8832Pro) c.26345T>C (p.Leu8782Pro) c.24785T>C (p.Leu8262Pro) c.24278T>C (p.Leu8093Pro) c.19745T>C (p.Leu6582Pro) c.26483T>C (p.Leu8828Pro) c.26432T>C (p.Leu8811Pro) c.26396T>C (p.Leu8799Pro) c.26243T>C (p.Leu8748Pro) | |
6 | g.152122467A>T | CA366088482 | ESR1,SYNE1 | c.2897T>A (p.Leu966His) c.26363T>A (p.Leu8788His) c.26219T>A (p.Leu8740His) c.1706T>A c.2081T>A c.1948T>A c.2213T>A (n.2213T>A) c.25148T>A (p.Leu8383His) n.3111T>A c.5139T>A (n.5139T>A) n.10055T>A c.4242T>A (n.4242T>A) n.9947T>A c.851-2799A>T (n.851-2799A>T) n.2977T>A n.7000T>A c.2828T>A (p.Leu943His) c.26510T>A (p.Leu8837His) c.26498T>A (p.Leu8833His) c.26489T>A (p.Leu8830His) c.26468T>A (p.Leu8823His) c.26459T>A (p.Leu8820His) c.26453T>A (p.Leu8818His) c.26441T>A (p.Leu8814His) c.26438T>A (p.Leu8813His) c.26399T>A (p.Leu8800His) c.26384T>A (p.Leu8795His) c.26369T>A (p.Leu8790His) c.26357T>A (p.Leu8786His) c.26354T>A (p.Leu8785His) c.26351T>A (p.Leu8784His) c.*174T>A (n.*174T>A) c.26507T>A (p.Leu8836His) c.26495T>A (p.Leu8832His) c.26345T>A (p.Leu8782His) c.24785T>A (p.Leu8262His) c.24278T>A (p.Leu8093His) c.19745T>A (p.Leu6582His) c.26483T>A (p.Leu8828His) c.26432T>A (p.Leu8811His) c.26396T>A (p.Leu8799His) c.26243T>A (p.Leu8748His) | |
6 | g.152122468G>A | CA4052580 | ESR1,SYNE1 | c.2896C>T (p.Leu966Phe) c.26362C>T (p.Leu8788Phe) c.26218C>T (p.Leu8740Phe) c.1705C>T c.2080C>T c.1947C>T c.2212C>T (n.2212C>T) c.25147C>T (p.Leu8383Phe) n.3110C>T c.5138C>T (n.5138C>T) n.10054C>T c.4241C>T (n.4241C>T) n.9946C>T c.851-2798G>A (n.851-2798G>A) n.2976C>T n.6999C>T c.2827C>T (p.Leu943Phe) c.26509C>T (p.Leu8837Phe) c.26497C>T (p.Leu8833Phe) c.26488C>T (p.Leu8830Phe) c.26467C>T (p.Leu8823Phe) c.26458C>T (p.Leu8820Phe) c.26452C>T (p.Leu8818Phe) c.26440C>T (p.Leu8814Phe) c.26437C>T (p.Leu8813Phe) c.26398C>T (p.Leu8800Phe) c.26383C>T (p.Leu8795Phe) c.26368C>T (p.Leu8790Phe) c.26356C>T (p.Leu8786Phe) c.26353C>T (p.Leu8785Phe) c.26350C>T (p.Leu8784Phe) c.*173C>T (n.*173C>T) c.26506C>T (p.Leu8836Phe) c.26494C>T (p.Leu8832Phe) c.26344C>T (p.Leu8782Phe) c.24784C>T (p.Leu8262Phe) c.24277C>T (p.Leu8093Phe) c.19744C>T (p.Leu6582Phe) c.26482C>T (p.Leu8828Phe) c.26431C>T (p.Leu8811Phe) c.26395C>T (p.Leu8799Phe) c.26242C>T (p.Leu8748Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122468G>C | CA366088486 | ESR1,SYNE1 | c.2896C>G (p.Leu966Val) c.26362C>G (p.Leu8788Val) c.26218C>G (p.Leu8740Val) c.1705C>G c.2080C>G c.1947C>G c.2212C>G (n.2212C>G) c.25147C>G (p.Leu8383Val) n.3110C>G c.5138C>G (n.5138C>G) n.10054C>G c.4241C>G (n.4241C>G) n.9946C>G c.851-2798G>C (n.851-2798G>C) n.2976C>G n.6999C>G c.2827C>G (p.Leu943Val) c.26509C>G (p.Leu8837Val) c.26497C>G (p.Leu8833Val) c.26488C>G (p.Leu8830Val) c.26467C>G (p.Leu8823Val) c.26458C>G (p.Leu8820Val) c.26452C>G (p.Leu8818Val) c.26440C>G (p.Leu8814Val) c.26437C>G (p.Leu8813Val) c.26398C>G (p.Leu8800Val) c.26383C>G (p.Leu8795Val) c.26368C>G (p.Leu8790Val) c.26356C>G (p.Leu8786Val) c.26353C>G (p.Leu8785Val) c.26350C>G (p.Leu8784Val) c.*173C>G (n.*173C>G) c.26506C>G (p.Leu8836Val) c.26494C>G (p.Leu8832Val) c.26344C>G (p.Leu8782Val) c.24784C>G (p.Leu8262Val) c.24277C>G (p.Leu8093Val) c.19744C>G (p.Leu6582Val) c.26482C>G (p.Leu8828Val) c.26431C>G (p.Leu8811Val) c.26395C>G (p.Leu8799Val) c.26242C>G (p.Leu8748Val) | |
6 | g.152122468G= | CA1673188778 | ESR1,SYNE1 | c.2896C= (p.Leu966=) c.26362C= (p.Leu8788=) c.26218C= (p.Leu8740=) c.1705C= c.2080C= c.1947C= c.2212C= (n.2212C=) c.25147C= (p.Leu8383=) n.3110C= c.5138C= (n.5138C=) n.10054C= c.4241C= (n.4241C=) n.9946C= c.851-2798G= (n.851-2798G=) n.2976C= n.6999C= c.2827C= (p.Leu943=) c.26509C= (p.Leu8837=) c.26497C= (p.Leu8833=) c.26488C= (p.Leu8830=) c.26467C= (p.Leu8823=) c.26458C= (p.Leu8820=) c.26452C= (p.Leu8818=) c.26440C= (p.Leu8814=) c.26437C= (p.Leu8813=) c.26398C= (p.Leu8800=) c.26383C= (p.Leu8795=) c.26368C= (p.Leu8790=) c.26356C= (p.Leu8786=) c.26353C= (p.Leu8785=) c.26350C= (p.Leu8784=) c.*173C= (n.*173C=) c.26506C= (p.Leu8836=) c.26494C= (p.Leu8832=) c.26344C= (p.Leu8782=) c.24784C= (p.Leu8262=) c.24277C= (p.Leu8093=) c.19744C= (p.Leu6582=) c.26482C= (p.Leu8828=) c.26431C= (p.Leu8811=) c.26395C= (p.Leu8799=) c.26242C= (p.Leu8748=) | |
6 | g.152122468G>T | CA366088489 | ESR1,SYNE1 | c.2896C>A (p.Leu966Ile) c.26362C>A (p.Leu8788Ile) c.26218C>A (p.Leu8740Ile) c.1705C>A c.2080C>A c.1947C>A c.2212C>A (n.2212C>A) c.25147C>A (p.Leu8383Ile) n.3110C>A c.5138C>A (n.5138C>A) n.10054C>A c.4241C>A (n.4241C>A) n.9946C>A c.851-2798G>T (n.851-2798G>T) n.2976C>A n.6999C>A c.2827C>A (p.Leu943Ile) c.26509C>A (p.Leu8837Ile) c.26497C>A (p.Leu8833Ile) c.26488C>A (p.Leu8830Ile) c.26467C>A (p.Leu8823Ile) c.26458C>A (p.Leu8820Ile) c.26452C>A (p.Leu8818Ile) c.26440C>A (p.Leu8814Ile) c.26437C>A (p.Leu8813Ile) c.26398C>A (p.Leu8800Ile) c.26383C>A (p.Leu8795Ile) c.26368C>A (p.Leu8790Ile) c.26356C>A (p.Leu8786Ile) c.26353C>A (p.Leu8785Ile) c.26350C>A (p.Leu8784Ile) c.*173C>A (n.*173C>A) c.26506C>A (p.Leu8836Ile) c.26494C>A (p.Leu8832Ile) c.26344C>A (p.Leu8782Ile) c.24784C>A (p.Leu8262Ile) c.24277C>A (p.Leu8093Ile) c.19744C>A (p.Leu6582Ile) c.26482C>A (p.Leu8828Ile) c.26431C>A (p.Leu8811Ile) c.26395C>A (p.Leu8799Ile) c.26242C>A (p.Leu8748Ile) | |
6 | g.152122469C>A | CA366088491 | ESR1,SYNE1 | c.2895G>T (p.Met965Ile) c.26361G>T (p.Met8787Ile) c.26217G>T (p.Met8739Ile) c.1704G>T c.2079G>T c.1946G>T c.2211G>T (n.2211G>T) c.25146G>T (p.Met8382Ile) n.3109G>T c.5137G>T (n.5137G>T) n.10053G>T c.4240G>T (n.4240G>T) n.9945G>T c.851-2797C>A (n.851-2797C>A) n.2975G>T n.6998G>T c.2826G>T (p.Met942Ile) c.26508G>T (p.Met8836Ile) c.26496G>T (p.Met8832Ile) c.26487G>T (p.Met8829Ile) c.26466G>T (p.Met8822Ile) c.26457G>T (p.Met8819Ile) c.26451G>T (p.Met8817Ile) c.26439G>T (p.Met8813Ile) c.26436G>T (p.Met8812Ile) c.26397G>T (p.Met8799Ile) c.26382G>T (p.Met8794Ile) c.26367G>T (p.Met8789Ile) c.26355G>T (p.Met8785Ile) c.26352G>T (p.Met8784Ile) c.26349G>T (p.Met8783Ile) c.*172G>T (n.*172G>T) c.26505G>T (p.Met8835Ile) c.26493G>T (p.Met8831Ile) c.26343G>T (p.Met8781Ile) c.24783G>T (p.Met8261Ile) c.24276G>T (p.Met8092Ile) c.19743G>T (p.Met6581Ile) c.26481G>T (p.Met8827Ile) c.26430G>T (p.Met8810Ile) c.26394G>T (p.Met8798Ile) c.26241G>T (p.Met8747Ile) | gnomAD v4 |
6 | g.152122469C>G | CA366088493 | ESR1,SYNE1 | c.2895G>C (p.Met965Ile) c.26361G>C (p.Met8787Ile) c.26217G>C (p.Met8739Ile) c.1704G>C c.2079G>C c.1946G>C c.2211G>C (n.2211G>C) c.25146G>C (p.Met8382Ile) n.3109G>C c.5137G>C (n.5137G>C) n.10053G>C c.4240G>C (n.4240G>C) n.9945G>C c.851-2797C>G (n.851-2797C>G) n.2975G>C n.6998G>C c.2826G>C (p.Met942Ile) c.26508G>C (p.Met8836Ile) c.26496G>C (p.Met8832Ile) c.26487G>C (p.Met8829Ile) c.26466G>C (p.Met8822Ile) c.26457G>C (p.Met8819Ile) c.26451G>C (p.Met8817Ile) c.26439G>C (p.Met8813Ile) c.26436G>C (p.Met8812Ile) c.26397G>C (p.Met8799Ile) c.26382G>C (p.Met8794Ile) c.26367G>C (p.Met8789Ile) c.26355G>C (p.Met8785Ile) c.26352G>C (p.Met8784Ile) c.26349G>C (p.Met8783Ile) c.*172G>C (n.*172G>C) c.26505G>C (p.Met8835Ile) c.26493G>C (p.Met8831Ile) c.26343G>C (p.Met8781Ile) c.24783G>C (p.Met8261Ile) c.24276G>C (p.Met8092Ile) c.19743G>C (p.Met6581Ile) c.26481G>C (p.Met8827Ile) c.26430G>C (p.Met8810Ile) c.26394G>C (p.Met8798Ile) c.26241G>C (p.Met8747Ile) | |
6 | g.152122469C>T | CA366088500 | ESR1,SYNE1 | c.2895G>A (p.Met965Ile) c.26361G>A (p.Met8787Ile) c.26217G>A (p.Met8739Ile) c.1704G>A c.2079G>A c.1946G>A c.2211G>A (n.2211G>A) c.25146G>A (p.Met8382Ile) n.3109G>A c.5137G>A (n.5137G>A) n.10053G>A c.4240G>A (n.4240G>A) n.9945G>A c.851-2797C>T (n.851-2797C>T) n.2975G>A n.6998G>A c.2826G>A (p.Met942Ile) c.26508G>A (p.Met8836Ile) c.26496G>A (p.Met8832Ile) c.26487G>A (p.Met8829Ile) c.26466G>A (p.Met8822Ile) c.26457G>A (p.Met8819Ile) c.26451G>A (p.Met8817Ile) c.26439G>A (p.Met8813Ile) c.26436G>A (p.Met8812Ile) c.26397G>A (p.Met8799Ile) c.26382G>A (p.Met8794Ile) c.26367G>A (p.Met8789Ile) c.26355G>A (p.Met8785Ile) c.26352G>A (p.Met8784Ile) c.26349G>A (p.Met8783Ile) c.*172G>A (n.*172G>A) c.26505G>A (p.Met8835Ile) c.26493G>A (p.Met8831Ile) c.26343G>A (p.Met8781Ile) c.24783G>A (p.Met8261Ile) c.24276G>A (p.Met8092Ile) c.19743G>A (p.Met6581Ile) c.26481G>A (p.Met8827Ile) c.26430G>A (p.Met8810Ile) c.26394G>A (p.Met8798Ile) c.26241G>A (p.Met8747Ile) | |
6 | g.152122470A>C | CA366088502 | ESR1,SYNE1 | c.2894T>G (p.Met965Arg) c.26360T>G (p.Met8787Arg) c.26216T>G (p.Met8739Arg) c.1703T>G c.2078T>G c.1945T>G c.2210T>G (n.2210T>G) c.25145T>G (p.Met8382Arg) n.3108T>G c.5136T>G (n.5136T>G) n.10052T>G c.4239T>G (n.4239T>G) n.9944T>G c.851-2796A>C (n.851-2796A>C) n.2974T>G n.6997T>G c.2825T>G (p.Met942Arg) c.26507T>G (p.Met8836Arg) c.26495T>G (p.Met8832Arg) c.26486T>G (p.Met8829Arg) c.26465T>G (p.Met8822Arg) c.26456T>G (p.Met8819Arg) c.26450T>G (p.Met8817Arg) c.26438T>G (p.Met8813Arg) c.26435T>G (p.Met8812Arg) c.26396T>G (p.Met8799Arg) c.26381T>G (p.Met8794Arg) c.26366T>G (p.Met8789Arg) c.26354T>G (p.Met8785Arg) c.26351T>G (p.Met8784Arg) c.26348T>G (p.Met8783Arg) c.*171T>G (n.*171T>G) c.26504T>G (p.Met8835Arg) c.26492T>G (p.Met8831Arg) c.26342T>G (p.Met8781Arg) c.24782T>G (p.Met8261Arg) c.24275T>G (p.Met8092Arg) c.19742T>G (p.Met6581Arg) c.26480T>G (p.Met8827Arg) c.26429T>G (p.Met8810Arg) c.26393T>G (p.Met8798Arg) c.26240T>G (p.Met8747Arg) | |
6 | g.152122470A>G | CA366088504 | ESR1,SYNE1 | c.2894T>C (p.Met965Thr) c.26360T>C (p.Met8787Thr) c.26216T>C (p.Met8739Thr) c.1703T>C c.2078T>C c.1945T>C c.2210T>C (n.2210T>C) c.25145T>C (p.Met8382Thr) n.3108T>C c.5136T>C (n.5136T>C) n.10052T>C c.4239T>C (n.4239T>C) n.9944T>C c.851-2796A>G (n.851-2796A>G) n.2974T>C n.6997T>C c.2825T>C (p.Met942Thr) c.26507T>C (p.Met8836Thr) c.26495T>C (p.Met8832Thr) c.26486T>C (p.Met8829Thr) c.26465T>C (p.Met8822Thr) c.26456T>C (p.Met8819Thr) c.26450T>C (p.Met8817Thr) c.26438T>C (p.Met8813Thr) c.26435T>C (p.Met8812Thr) c.26396T>C (p.Met8799Thr) c.26381T>C (p.Met8794Thr) c.26366T>C (p.Met8789Thr) c.26354T>C (p.Met8785Thr) c.26351T>C (p.Met8784Thr) c.26348T>C (p.Met8783Thr) c.*171T>C (n.*171T>C) c.26504T>C (p.Met8835Thr) c.26492T>C (p.Met8831Thr) c.26342T>C (p.Met8781Thr) c.24782T>C (p.Met8261Thr) c.24275T>C (p.Met8092Thr) c.19742T>C (p.Met6581Thr) c.26480T>C (p.Met8827Thr) c.26429T>C (p.Met8810Thr) c.26393T>C (p.Met8798Thr) c.26240T>C (p.Met8747Thr) | |
6 | g.152122470A>T | CA366088506 | ESR1,SYNE1 | c.2894T>A (p.Met965Lys) c.26360T>A (p.Met8787Lys) c.26216T>A (p.Met8739Lys) c.1703T>A c.2078T>A c.1945T>A c.2210T>A (n.2210T>A) c.25145T>A (p.Met8382Lys) n.3108T>A c.5136T>A (n.5136T>A) n.10052T>A c.4239T>A (n.4239T>A) n.9944T>A c.851-2796A>T (n.851-2796A>T) n.2974T>A n.6997T>A c.2825T>A (p.Met942Lys) c.26507T>A (p.Met8836Lys) c.26495T>A (p.Met8832Lys) c.26486T>A (p.Met8829Lys) c.26465T>A (p.Met8822Lys) c.26456T>A (p.Met8819Lys) c.26450T>A (p.Met8817Lys) c.26438T>A (p.Met8813Lys) c.26435T>A (p.Met8812Lys) c.26396T>A (p.Met8799Lys) c.26381T>A (p.Met8794Lys) c.26366T>A (p.Met8789Lys) c.26354T>A (p.Met8785Lys) c.26351T>A (p.Met8784Lys) c.26348T>A (p.Met8783Lys) c.*171T>A (n.*171T>A) c.26504T>A (p.Met8835Lys) c.26492T>A (p.Met8831Lys) c.26342T>A (p.Met8781Lys) c.24782T>A (p.Met8261Lys) c.24275T>A (p.Met8092Lys) c.19742T>A (p.Met6581Lys) c.26480T>A (p.Met8827Lys) c.26429T>A (p.Met8810Lys) c.26393T>A (p.Met8798Lys) c.26240T>A (p.Met8747Lys) | |
6 | g.152122471T>A | CA366088509 | ESR1,SYNE1 | c.2893A>T (p.Met965Leu) c.26359A>T (p.Met8787Leu) c.26215A>T (p.Met8739Leu) c.1702A>T c.2077A>T c.1944A>T c.2209A>T (n.2209A>T) c.25144A>T (p.Met8382Leu) n.3107A>T c.5135A>T (n.5135A>T) n.10051A>T c.4238A>T (n.4238A>T) n.9943A>T c.851-2795T>A (n.851-2795T>A) n.2973A>T n.6996A>T c.2824A>T (p.Met942Leu) c.26506A>T (p.Met8836Leu) c.26494A>T (p.Met8832Leu) c.26485A>T (p.Met8829Leu) c.26464A>T (p.Met8822Leu) c.26455A>T (p.Met8819Leu) c.26449A>T (p.Met8817Leu) c.26437A>T (p.Met8813Leu) c.26434A>T (p.Met8812Leu) c.26395A>T (p.Met8799Leu) c.26380A>T (p.Met8794Leu) c.26365A>T (p.Met8789Leu) c.26353A>T (p.Met8785Leu) c.26350A>T (p.Met8784Leu) c.26347A>T (p.Met8783Leu) c.*170A>T (n.*170A>T) c.26503A>T (p.Met8835Leu) c.26491A>T (p.Met8831Leu) c.26341A>T (p.Met8781Leu) c.24781A>T (p.Met8261Leu) c.24274A>T (p.Met8092Leu) c.19741A>T (p.Met6581Leu) c.26479A>T (p.Met8827Leu) c.26428A>T (p.Met8810Leu) c.26392A>T (p.Met8798Leu) c.26239A>T (p.Met8747Leu) | gnomAD v4 |
6 | g.152122471T>C | CA366088511 | ESR1,SYNE1 | c.2893A>G (p.Met965Val) c.26359A>G (p.Met8787Val) c.26215A>G (p.Met8739Val) c.1702A>G c.2077A>G c.1944A>G c.2209A>G (n.2209A>G) c.25144A>G (p.Met8382Val) n.3107A>G c.5135A>G (n.5135A>G) n.10051A>G c.4238A>G (n.4238A>G) n.9943A>G c.851-2795T>C (n.851-2795T>C) n.2973A>G n.6996A>G c.2824A>G (p.Met942Val) c.26506A>G (p.Met8836Val) c.26494A>G (p.Met8832Val) c.26485A>G (p.Met8829Val) c.26464A>G (p.Met8822Val) c.26455A>G (p.Met8819Val) c.26449A>G (p.Met8817Val) c.26437A>G (p.Met8813Val) c.26434A>G (p.Met8812Val) c.26395A>G (p.Met8799Val) c.26380A>G (p.Met8794Val) c.26365A>G (p.Met8789Val) c.26353A>G (p.Met8785Val) c.26350A>G (p.Met8784Val) c.26347A>G (p.Met8783Val) c.*170A>G (n.*170A>G) c.26503A>G (p.Met8835Val) c.26491A>G (p.Met8831Val) c.26341A>G (p.Met8781Val) c.24781A>G (p.Met8261Val) c.24274A>G (p.Met8092Val) c.19741A>G (p.Met6581Val) c.26479A>G (p.Met8827Val) c.26428A>G (p.Met8810Val) c.26392A>G (p.Met8798Val) c.26239A>G (p.Met8747Val) | |
6 | g.152122471T>G | CA366088513 | ESR1,SYNE1 | c.2893A>C (p.Met965Leu) c.26359A>C (p.Met8787Leu) c.26215A>C (p.Met8739Leu) c.1702A>C c.2077A>C c.1944A>C c.2209A>C (n.2209A>C) c.25144A>C (p.Met8382Leu) n.3107A>C c.5135A>C (n.5135A>C) n.10051A>C c.4238A>C (n.4238A>C) n.9943A>C c.851-2795T>G (n.851-2795T>G) n.2973A>C n.6996A>C c.2824A>C (p.Met942Leu) c.26506A>C (p.Met8836Leu) c.26494A>C (p.Met8832Leu) c.26485A>C (p.Met8829Leu) c.26464A>C (p.Met8822Leu) c.26455A>C (p.Met8819Leu) c.26449A>C (p.Met8817Leu) c.26437A>C (p.Met8813Leu) c.26434A>C (p.Met8812Leu) c.26395A>C (p.Met8799Leu) c.26380A>C (p.Met8794Leu) c.26365A>C (p.Met8789Leu) c.26353A>C (p.Met8785Leu) c.26350A>C (p.Met8784Leu) c.26347A>C (p.Met8783Leu) c.*170A>C (n.*170A>C) c.26503A>C (p.Met8835Leu) c.26491A>C (p.Met8831Leu) c.26341A>C (p.Met8781Leu) c.24781A>C (p.Met8261Leu) c.24274A>C (p.Met8092Leu) c.19741A>C (p.Met6581Leu) c.26479A>C (p.Met8827Leu) c.26428A>C (p.Met8810Leu) c.26392A>C (p.Met8798Leu) c.26239A>C (p.Met8747Leu) | |
6 | g.152122472G>A | CA150189452 | ESR1,SYNE1 | c.2892C>T (p.Pro964=) c.26358C>T (p.Pro8786=) c.26214C>T (p.Pro8738=) c.1701C>T c.2076C>T c.1943C>T c.2208C>T (n.2208C>T) c.25143C>T (p.Pro8381=) n.3106C>T c.5134C>T (n.5134C>T) n.10050C>T c.4237C>T (n.4237C>T) n.9942C>T c.851-2794G>A (n.851-2794G>A) n.2972C>T n.6995C>T c.2823C>T (p.Pro941=) c.26505C>T (p.Pro8835=) c.26493C>T (p.Pro8831=) c.26484C>T (p.Pro8828=) c.26463C>T (p.Pro8821=) c.26454C>T (p.Pro8818=) c.26448C>T (p.Pro8816=) c.26436C>T (p.Pro8812=) c.26433C>T (p.Pro8811=) c.26394C>T (p.Pro8798=) c.26379C>T (p.Pro8793=) c.26364C>T (p.Pro8788=) c.26352C>T (p.Pro8784=) c.26349C>T (p.Pro8783=) c.26346C>T (p.Pro8782=) c.*169C>T (n.*169C>T) c.26502C>T (p.Pro8834=) c.26490C>T (p.Pro8830=) c.26340C>T (p.Pro8780=) c.24780C>T (p.Pro8260=) c.24273C>T (p.Pro8091=) c.19740C>T (p.Pro6580=) c.26478C>T (p.Pro8826=) c.26427C>T (p.Pro8809=) c.26391C>T (p.Pro8797=) c.26238C>T (p.Pro8746=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122472G>C | CA452969511 | ESR1,SYNE1 | c.2892C>G (p.Pro964=) c.26358C>G (p.Pro8786=) c.26214C>G (p.Pro8738=) c.1701C>G c.2076C>G c.1943C>G c.2208C>G (n.2208C>G) c.25143C>G (p.Pro8381=) n.3106C>G c.5134C>G (n.5134C>G) n.10050C>G c.4237C>G (n.4237C>G) n.9942C>G c.851-2794G>C (n.851-2794G>C) n.2972C>G n.6995C>G c.2823C>G (p.Pro941=) c.26505C>G (p.Pro8835=) c.26493C>G (p.Pro8831=) c.26484C>G (p.Pro8828=) c.26463C>G (p.Pro8821=) c.26454C>G (p.Pro8818=) c.26448C>G (p.Pro8816=) c.26436C>G (p.Pro8812=) c.26433C>G (p.Pro8811=) c.26394C>G (p.Pro8798=) c.26379C>G (p.Pro8793=) c.26364C>G (p.Pro8788=) c.26352C>G (p.Pro8784=) c.26349C>G (p.Pro8783=) c.26346C>G (p.Pro8782=) c.*169C>G (n.*169C>G) c.26502C>G (p.Pro8834=) c.26490C>G (p.Pro8830=) c.26340C>G (p.Pro8780=) c.24780C>G (p.Pro8260=) c.24273C>G (p.Pro8091=) c.19740C>G (p.Pro6580=) c.26478C>G (p.Pro8826=) c.26427C>G (p.Pro8809=) c.26391C>G (p.Pro8797=) c.26238C>G (p.Pro8746=) | |
6 | g.152122472G= | CA1673188790 | ESR1,SYNE1 | c.2892C= (p.Pro964=) c.26358C= (p.Pro8786=) c.26214C= (p.Pro8738=) c.1701C= c.2076C= c.1943C= c.2208C= (n.2208C=) c.25143C= (p.Pro8381=) n.3106C= c.5134C= (n.5134C=) n.10050C= c.4237C= (n.4237C=) n.9942C= c.851-2794G= (n.851-2794G=) n.2972C= n.6995C= c.2823C= (p.Pro941=) c.26505C= (p.Pro8835=) c.26493C= (p.Pro8831=) c.26484C= (p.Pro8828=) c.26463C= (p.Pro8821=) c.26454C= (p.Pro8818=) c.26448C= (p.Pro8816=) c.26436C= (p.Pro8812=) c.26433C= (p.Pro8811=) c.26394C= (p.Pro8798=) c.26379C= (p.Pro8793=) c.26364C= (p.Pro8788=) c.26352C= (p.Pro8784=) c.26349C= (p.Pro8783=) c.26346C= (p.Pro8782=) c.*169C= (n.*169C=) c.26502C= (p.Pro8834=) c.26490C= (p.Pro8830=) c.26340C= (p.Pro8780=) c.24780C= (p.Pro8260=) c.24273C= (p.Pro8091=) c.19740C= (p.Pro6580=) c.26478C= (p.Pro8826=) c.26427C= (p.Pro8809=) c.26391C= (p.Pro8797=) c.26238C= (p.Pro8746=) | |
6 | g.152122472G>T | CA452969512 | ESR1,SYNE1 | c.2892C>A (p.Pro964=) c.26358C>A (p.Pro8786=) c.26214C>A (p.Pro8738=) c.1701C>A c.2076C>A c.1943C>A c.2208C>A (n.2208C>A) c.25143C>A (p.Pro8381=) n.3106C>A c.5134C>A (n.5134C>A) n.10050C>A c.4237C>A (n.4237C>A) n.9942C>A c.851-2794G>T (n.851-2794G>T) n.2972C>A n.6995C>A c.2823C>A (p.Pro941=) c.26505C>A (p.Pro8835=) c.26493C>A (p.Pro8831=) c.26484C>A (p.Pro8828=) c.26463C>A (p.Pro8821=) c.26454C>A (p.Pro8818=) c.26448C>A (p.Pro8816=) c.26436C>A (p.Pro8812=) c.26433C>A (p.Pro8811=) c.26394C>A (p.Pro8798=) c.26379C>A (p.Pro8793=) c.26364C>A (p.Pro8788=) c.26352C>A (p.Pro8784=) c.26349C>A (p.Pro8783=) c.26346C>A (p.Pro8782=) c.*169C>A (n.*169C>A) c.26502C>A (p.Pro8834=) c.26490C>A (p.Pro8830=) c.26340C>A (p.Pro8780=) c.24780C>A (p.Pro8260=) c.24273C>A (p.Pro8091=) c.19740C>A (p.Pro6580=) c.26478C>A (p.Pro8826=) c.26427C>A (p.Pro8809=) c.26391C>A (p.Pro8797=) c.26238C>A (p.Pro8746=) | |
6 | g.152122473G>A | CA366088519 | ESR1,SYNE1 | c.2891C>T (p.Pro964Leu) c.26357C>T (p.Pro8786Leu) c.26213C>T (p.Pro8738Leu) c.1700C>T c.2075C>T c.1942C>T c.2207C>T (n.2207C>T) c.25142C>T (p.Pro8381Leu) n.3105C>T c.5133C>T (n.5133C>T) n.10049C>T c.4236C>T (n.4236C>T) n.9941C>T c.851-2793G>A (n.851-2793G>A) n.2971C>T n.6994C>T c.2822C>T (p.Pro941Leu) c.26504C>T (p.Pro8835Leu) c.26492C>T (p.Pro8831Leu) c.26483C>T (p.Pro8828Leu) c.26462C>T (p.Pro8821Leu) c.26453C>T (p.Pro8818Leu) c.26447C>T (p.Pro8816Leu) c.26435C>T (p.Pro8812Leu) c.26432C>T (p.Pro8811Leu) c.26393C>T (p.Pro8798Leu) c.26378C>T (p.Pro8793Leu) c.26363C>T (p.Pro8788Leu) c.26351C>T (p.Pro8784Leu) c.26348C>T (p.Pro8783Leu) c.26345C>T (p.Pro8782Leu) c.*168C>T (n.*168C>T) c.26501C>T (p.Pro8834Leu) c.26489C>T (p.Pro8830Leu) c.26339C>T (p.Pro8780Leu) c.24779C>T (p.Pro8260Leu) c.24272C>T (p.Pro8091Leu) c.19739C>T (p.Pro6580Leu) c.26477C>T (p.Pro8826Leu) c.26426C>T (p.Pro8809Leu) c.26390C>T (p.Pro8797Leu) c.26237C>T (p.Pro8746Leu) | |
6 | g.152122473G>C | CA366088517 | ESR1,SYNE1 | c.2891C>G (p.Pro964Arg) c.26357C>G (p.Pro8786Arg) c.26213C>G (p.Pro8738Arg) c.1700C>G c.2075C>G c.1942C>G c.2207C>G (n.2207C>G) c.25142C>G (p.Pro8381Arg) n.3105C>G c.5133C>G (n.5133C>G) n.10049C>G c.4236C>G (n.4236C>G) n.9941C>G c.851-2793G>C (n.851-2793G>C) n.2971C>G n.6994C>G c.2822C>G (p.Pro941Arg) c.26504C>G (p.Pro8835Arg) c.26492C>G (p.Pro8831Arg) c.26483C>G (p.Pro8828Arg) c.26462C>G (p.Pro8821Arg) c.26453C>G (p.Pro8818Arg) c.26447C>G (p.Pro8816Arg) c.26435C>G (p.Pro8812Arg) c.26432C>G (p.Pro8811Arg) c.26393C>G (p.Pro8798Arg) c.26378C>G (p.Pro8793Arg) c.26363C>G (p.Pro8788Arg) c.26351C>G (p.Pro8784Arg) c.26348C>G (p.Pro8783Arg) c.26345C>G (p.Pro8782Arg) c.*168C>G (n.*168C>G) c.26501C>G (p.Pro8834Arg) c.26489C>G (p.Pro8830Arg) c.26339C>G (p.Pro8780Arg) c.24779C>G (p.Pro8260Arg) c.24272C>G (p.Pro8091Arg) c.19739C>G (p.Pro6580Arg) c.26477C>G (p.Pro8826Arg) c.26426C>G (p.Pro8809Arg) c.26390C>G (p.Pro8797Arg) c.26237C>G (p.Pro8746Arg) | gnomAD v4 |
6 | g.152122473G>T | CA366088521 | ESR1,SYNE1 | c.2891C>A (p.Pro964His) c.26357C>A (p.Pro8786His) c.26213C>A (p.Pro8738His) c.1700C>A c.2075C>A c.1942C>A c.2207C>A (n.2207C>A) c.25142C>A (p.Pro8381His) n.3105C>A c.5133C>A (n.5133C>A) n.10049C>A c.4236C>A (n.4236C>A) n.9941C>A c.851-2793G>T (n.851-2793G>T) n.2971C>A n.6994C>A c.2822C>A (p.Pro941His) c.26504C>A (p.Pro8835His) c.26492C>A (p.Pro8831His) c.26483C>A (p.Pro8828His) c.26462C>A (p.Pro8821His) c.26453C>A (p.Pro8818His) c.26447C>A (p.Pro8816His) c.26435C>A (p.Pro8812His) c.26432C>A (p.Pro8811His) c.26393C>A (p.Pro8798His) c.26378C>A (p.Pro8793His) c.26363C>A (p.Pro8788His) c.26351C>A (p.Pro8784His) c.26348C>A (p.Pro8783His) c.26345C>A (p.Pro8782His) c.*168C>A (n.*168C>A) c.26501C>A (p.Pro8834His) c.26489C>A (p.Pro8830His) c.26339C>A (p.Pro8780His) c.24779C>A (p.Pro8260His) c.24272C>A (p.Pro8091His) c.19739C>A (p.Pro6580His) c.26477C>A (p.Pro8826His) c.26426C>A (p.Pro8809His) c.26390C>A (p.Pro8797His) c.26237C>A (p.Pro8746His) | gnomAD v4 |
6 | g.152122474G>A | CA366088523 | ESR1,SYNE1 | c.2890C>T (p.Pro964Ser) c.26356C>T (p.Pro8786Ser) c.26212C>T (p.Pro8738Ser) c.1699C>T c.2074C>T c.1941C>T c.2206C>T (n.2206C>T) c.25141C>T (p.Pro8381Ser) n.3104C>T c.5132C>T (n.5132C>T) n.10048C>T c.4235C>T (n.4235C>T) n.9940C>T c.851-2792G>A (n.851-2792G>A) n.2970C>T n.6993C>T c.2821C>T (p.Pro941Ser) c.26503C>T (p.Pro8835Ser) c.26491C>T (p.Pro8831Ser) c.26482C>T (p.Pro8828Ser) c.26461C>T (p.Pro8821Ser) c.26452C>T (p.Pro8818Ser) c.26446C>T (p.Pro8816Ser) c.26434C>T (p.Pro8812Ser) c.26431C>T (p.Pro8811Ser) c.26392C>T (p.Pro8798Ser) c.26377C>T (p.Pro8793Ser) c.26362C>T (p.Pro8788Ser) c.26350C>T (p.Pro8784Ser) c.26347C>T (p.Pro8783Ser) c.26344C>T (p.Pro8782Ser) c.*167C>T (n.*167C>T) c.26500C>T (p.Pro8834Ser) c.26488C>T (p.Pro8830Ser) c.26338C>T (p.Pro8780Ser) c.24778C>T (p.Pro8260Ser) c.24271C>T (p.Pro8091Ser) c.19738C>T (p.Pro6580Ser) c.26476C>T (p.Pro8826Ser) c.26425C>T (p.Pro8809Ser) c.26389C>T (p.Pro8797Ser) c.26236C>T (p.Pro8746Ser) | |
6 | g.152122474G>C | CA366088524 | ESR1,SYNE1 | c.2890C>G (p.Pro964Ala) c.26356C>G (p.Pro8786Ala) c.26212C>G (p.Pro8738Ala) c.1699C>G c.2074C>G c.1941C>G c.2206C>G (n.2206C>G) c.25141C>G (p.Pro8381Ala) n.3104C>G c.5132C>G (n.5132C>G) n.10048C>G c.4235C>G (n.4235C>G) n.9940C>G c.851-2792G>C (n.851-2792G>C) n.2970C>G n.6993C>G c.2821C>G (p.Pro941Ala) c.26503C>G (p.Pro8835Ala) c.26491C>G (p.Pro8831Ala) c.26482C>G (p.Pro8828Ala) c.26461C>G (p.Pro8821Ala) c.26452C>G (p.Pro8818Ala) c.26446C>G (p.Pro8816Ala) c.26434C>G (p.Pro8812Ala) c.26431C>G (p.Pro8811Ala) c.26392C>G (p.Pro8798Ala) c.26377C>G (p.Pro8793Ala) c.26362C>G (p.Pro8788Ala) c.26350C>G (p.Pro8784Ala) c.26347C>G (p.Pro8783Ala) c.26344C>G (p.Pro8782Ala) c.*167C>G (n.*167C>G) c.26500C>G (p.Pro8834Ala) c.26488C>G (p.Pro8830Ala) c.26338C>G (p.Pro8780Ala) c.24778C>G (p.Pro8260Ala) c.24271C>G (p.Pro8091Ala) c.19738C>G (p.Pro6580Ala) c.26476C>G (p.Pro8826Ala) c.26425C>G (p.Pro8809Ala) c.26389C>G (p.Pro8797Ala) c.26236C>G (p.Pro8746Ala) | |
6 | g.152122474G>T | CA366088525 | ESR1,SYNE1 | c.2890C>A (p.Pro964Thr) c.26356C>A (p.Pro8786Thr) c.26212C>A (p.Pro8738Thr) c.1699C>A c.2074C>A c.1941C>A c.2206C>A (n.2206C>A) c.25141C>A (p.Pro8381Thr) n.3104C>A c.5132C>A (n.5132C>A) n.10048C>A c.4235C>A (n.4235C>A) n.9940C>A c.851-2792G>T (n.851-2792G>T) n.2970C>A n.6993C>A c.2821C>A (p.Pro941Thr) c.26503C>A (p.Pro8835Thr) c.26491C>A (p.Pro8831Thr) c.26482C>A (p.Pro8828Thr) c.26461C>A (p.Pro8821Thr) c.26452C>A (p.Pro8818Thr) c.26446C>A (p.Pro8816Thr) c.26434C>A (p.Pro8812Thr) c.26431C>A (p.Pro8811Thr) c.26392C>A (p.Pro8798Thr) c.26377C>A (p.Pro8793Thr) c.26362C>A (p.Pro8788Thr) c.26350C>A (p.Pro8784Thr) c.26347C>A (p.Pro8783Thr) c.26344C>A (p.Pro8782Thr) c.*167C>A (n.*167C>A) c.26500C>A (p.Pro8834Thr) c.26488C>A (p.Pro8830Thr) c.26338C>A (p.Pro8780Thr) c.24778C>A (p.Pro8260Thr) c.24271C>A (p.Pro8091Thr) c.19738C>A (p.Pro6580Thr) c.26476C>A (p.Pro8826Thr) c.26425C>A (p.Pro8809Thr) c.26389C>A (p.Pro8797Thr) c.26236C>A (p.Pro8746Thr) | gnomAD v4 |
6 | g.152122475G>A | CA4052581 | ESR1,SYNE1 | c.2889C>T (p.His963=) c.26355C>T (p.His8785=) c.26211C>T (p.His8737=) c.1698C>T c.2073C>T c.1940C>T c.2205C>T (n.2205C>T) c.25140C>T (p.His8380=) n.3103C>T c.5131C>T (n.5131C>T) n.10047C>T c.4234C>T (n.4234C>T) n.9939C>T c.851-2791G>A (n.851-2791G>A) n.2969C>T n.6992C>T c.2820C>T (p.His940=) c.26502C>T (p.His8834=) c.26490C>T (p.His8830=) c.26481C>T (p.His8827=) c.26460C>T (p.His8820=) c.26451C>T (p.His8817=) c.26445C>T (p.His8815=) c.26433C>T (p.His8811=) c.26430C>T (p.His8810=) c.26391C>T (p.His8797=) c.26376C>T (p.His8792=) c.26361C>T (p.His8787=) c.26349C>T (p.His8783=) c.26346C>T (p.His8782=) c.26343C>T (p.His8781=) c.*166C>T (n.*166C>T) c.26499C>T (p.His8833=) c.26487C>T (p.His8829=) c.26337C>T (p.His8779=) c.24777C>T (p.His8259=) c.24270C>T (p.His8090=) c.19737C>T (p.His6579=) c.26475C>T (p.His8825=) c.26424C>T (p.His8808=) c.26388C>T (p.His8796=) c.26235C>T (p.His8745=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122475G>C | CA366088529 | ESR1,SYNE1 | c.2889C>G (p.His963Gln) c.26355C>G (p.His8785Gln) c.26211C>G (p.His8737Gln) c.1698C>G c.2073C>G c.1940C>G c.2205C>G (n.2205C>G) c.25140C>G (p.His8380Gln) n.3103C>G c.5131C>G (n.5131C>G) n.10047C>G c.4234C>G (n.4234C>G) n.9939C>G c.851-2791G>C (n.851-2791G>C) n.2969C>G n.6992C>G c.2820C>G (p.His940Gln) c.26502C>G (p.His8834Gln) c.26490C>G (p.His8830Gln) c.26481C>G (p.His8827Gln) c.26460C>G (p.His8820Gln) c.26451C>G (p.His8817Gln) c.26445C>G (p.His8815Gln) c.26433C>G (p.His8811Gln) c.26430C>G (p.His8810Gln) c.26391C>G (p.His8797Gln) c.26376C>G (p.His8792Gln) c.26361C>G (p.His8787Gln) c.26349C>G (p.His8783Gln) c.26346C>G (p.His8782Gln) c.26343C>G (p.His8781Gln) c.*166C>G (n.*166C>G) c.26499C>G (p.His8833Gln) c.26487C>G (p.His8829Gln) c.26337C>G (p.His8779Gln) c.24777C>G (p.His8259Gln) c.24270C>G (p.His8090Gln) c.19737C>G (p.His6579Gln) c.26475C>G (p.His8825Gln) c.26424C>G (p.His8808Gln) c.26388C>G (p.His8796Gln) c.26235C>G (p.His8745Gln) | |
6 | g.152122475G= | CA1673188799 | ESR1,SYNE1 | c.2889C= (p.His963=) c.26355C= (p.His8785=) c.26211C= (p.His8737=) c.1698C= c.2073C= c.1940C= c.2205C= (n.2205C=) c.25140C= (p.His8380=) n.3103C= c.5131C= (n.5131C=) n.10047C= c.4234C= (n.4234C=) n.9939C= c.851-2791G= (n.851-2791G=) n.2969C= n.6992C= c.2820C= (p.His940=) c.26502C= (p.His8834=) c.26490C= (p.His8830=) c.26481C= (p.His8827=) c.26460C= (p.His8820=) c.26451C= (p.His8817=) c.26445C= (p.His8815=) c.26433C= (p.His8811=) c.26430C= (p.His8810=) c.26391C= (p.His8797=) c.26376C= (p.His8792=) c.26361C= (p.His8787=) c.26349C= (p.His8783=) c.26346C= (p.His8782=) c.26343C= (p.His8781=) c.*166C= (n.*166C=) c.26499C= (p.His8833=) c.26487C= (p.His8829=) c.26337C= (p.His8779=) c.24777C= (p.His8259=) c.24270C= (p.His8090=) c.19737C= (p.His6579=) c.26475C= (p.His8825=) c.26424C= (p.His8808=) c.26388C= (p.His8796=) c.26235C= (p.His8745=) | |
6 | g.152122475G>T | CA366088530 | ESR1,SYNE1 | c.2889C>A (p.His963Gln) c.26355C>A (p.His8785Gln) c.26211C>A (p.His8737Gln) c.1698C>A c.2073C>A c.1940C>A c.2205C>A (n.2205C>A) c.25140C>A (p.His8380Gln) n.3103C>A c.5131C>A (n.5131C>A) n.10047C>A c.4234C>A (n.4234C>A) n.9939C>A c.851-2791G>T (n.851-2791G>T) n.2969C>A n.6992C>A c.2820C>A (p.His940Gln) c.26502C>A (p.His8834Gln) c.26490C>A (p.His8830Gln) c.26481C>A (p.His8827Gln) c.26460C>A (p.His8820Gln) c.26451C>A (p.His8817Gln) c.26445C>A (p.His8815Gln) c.26433C>A (p.His8811Gln) c.26430C>A (p.His8810Gln) c.26391C>A (p.His8797Gln) c.26376C>A (p.His8792Gln) c.26361C>A (p.His8787Gln) c.26349C>A (p.His8783Gln) c.26346C>A (p.His8782Gln) c.26343C>A (p.His8781Gln) c.*166C>A (n.*166C>A) c.26499C>A (p.His8833Gln) c.26487C>A (p.His8829Gln) c.26337C>A (p.His8779Gln) c.24777C>A (p.His8259Gln) c.24270C>A (p.His8090Gln) c.19737C>A (p.His6579Gln) c.26475C>A (p.His8825Gln) c.26424C>A (p.His8808Gln) c.26388C>A (p.His8796Gln) c.26235C>A (p.His8745Gln) | |
6 | g.152122476T>A | CA366088532 | ESR1,SYNE1 | c.2888A>T (p.His963Leu) c.26354A>T (p.His8785Leu) c.26210A>T (p.His8737Leu) c.1697A>T c.2072A>T c.1939A>T c.2204A>T (n.2204A>T) c.25139A>T (p.His8380Leu) n.3102A>T c.5130A>T (n.5130A>T) n.10046A>T c.4233A>T (n.4233A>T) n.9938A>T c.851-2790T>A (n.851-2790T>A) n.2968A>T n.6991A>T c.2819A>T (p.His940Leu) c.26501A>T (p.His8834Leu) c.26489A>T (p.His8830Leu) c.26480A>T (p.His8827Leu) c.26459A>T (p.His8820Leu) c.26450A>T (p.His8817Leu) c.26444A>T (p.His8815Leu) c.26432A>T (p.His8811Leu) c.26429A>T (p.His8810Leu) c.26390A>T (p.His8797Leu) c.26375A>T (p.His8792Leu) c.26360A>T (p.His8787Leu) c.26348A>T (p.His8783Leu) c.26345A>T (p.His8782Leu) c.26342A>T (p.His8781Leu) c.*165A>T (n.*165A>T) c.26498A>T (p.His8833Leu) c.26486A>T (p.His8829Leu) c.26336A>T (p.His8779Leu) c.24776A>T (p.His8259Leu) c.24269A>T (p.His8090Leu) c.19736A>T (p.His6579Leu) c.26474A>T (p.His8825Leu) c.26423A>T (p.His8808Leu) c.26387A>T (p.His8796Leu) c.26234A>T (p.His8745Leu) | |
6 | g.152122476T>C | CA366088534 | ESR1,SYNE1 | c.2888A>G (p.His963Arg) c.26354A>G (p.His8785Arg) c.26210A>G (p.His8737Arg) c.1697A>G c.2072A>G c.1939A>G c.2204A>G (n.2204A>G) c.25139A>G (p.His8380Arg) n.3102A>G c.5130A>G (n.5130A>G) n.10046A>G c.4233A>G (n.4233A>G) n.9938A>G c.851-2790T>C (n.851-2790T>C) n.2968A>G n.6991A>G c.2819A>G (p.His940Arg) c.26501A>G (p.His8834Arg) c.26489A>G (p.His8830Arg) c.26480A>G (p.His8827Arg) c.26459A>G (p.His8820Arg) c.26450A>G (p.His8817Arg) c.26444A>G (p.His8815Arg) c.26432A>G (p.His8811Arg) c.26429A>G (p.His8810Arg) c.26390A>G (p.His8797Arg) c.26375A>G (p.His8792Arg) c.26360A>G (p.His8787Arg) c.26348A>G (p.His8783Arg) c.26345A>G (p.His8782Arg) c.26342A>G (p.His8781Arg) c.*165A>G (n.*165A>G) c.26498A>G (p.His8833Arg) c.26486A>G (p.His8829Arg) c.26336A>G (p.His8779Arg) c.24776A>G (p.His8259Arg) c.24269A>G (p.His8090Arg) c.19736A>G (p.His6579Arg) c.26474A>G (p.His8825Arg) c.26423A>G (p.His8808Arg) c.26387A>G (p.His8796Arg) c.26234A>G (p.His8745Arg) | |
6 | g.152122476T>G | CA366088536 | ESR1,SYNE1 | c.2888A>C (p.His963Pro) c.26354A>C (p.His8785Pro) c.26210A>C (p.His8737Pro) c.1697A>C c.2072A>C c.1939A>C c.2204A>C (n.2204A>C) c.25139A>C (p.His8380Pro) n.3102A>C c.5130A>C (n.5130A>C) n.10046A>C c.4233A>C (n.4233A>C) n.9938A>C c.851-2790T>G (n.851-2790T>G) n.2968A>C n.6991A>C c.2819A>C (p.His940Pro) c.26501A>C (p.His8834Pro) c.26489A>C (p.His8830Pro) c.26480A>C (p.His8827Pro) c.26459A>C (p.His8820Pro) c.26450A>C (p.His8817Pro) c.26444A>C (p.His8815Pro) c.26432A>C (p.His8811Pro) c.26429A>C (p.His8810Pro) c.26390A>C (p.His8797Pro) c.26375A>C (p.His8792Pro) c.26360A>C (p.His8787Pro) c.26348A>C (p.His8783Pro) c.26345A>C (p.His8782Pro) c.26342A>C (p.His8781Pro) c.*165A>C (n.*165A>C) c.26498A>C (p.His8833Pro) c.26486A>C (p.His8829Pro) c.26336A>C (p.His8779Pro) c.24776A>C (p.His8259Pro) c.24269A>C (p.His8090Pro) c.19736A>C (p.His6579Pro) c.26474A>C (p.His8825Pro) c.26423A>C (p.His8808Pro) c.26387A>C (p.His8796Pro) c.26234A>C (p.His8745Pro) | |
6 | g.152122477G>A | CA366088539 | ESR1,SYNE1 | c.2887C>T (p.His963Tyr) c.26353C>T (p.His8785Tyr) c.26209C>T (p.His8737Tyr) c.1696C>T c.2071C>T c.1938C>T c.2203C>T (n.2203C>T) c.25138C>T (p.His8380Tyr) n.3101C>T c.5129C>T (n.5129C>T) n.10045C>T c.4232C>T (n.4232C>T) n.9937C>T c.851-2789G>A (n.851-2789G>A) n.2967C>T n.6990C>T c.2818C>T (p.His940Tyr) c.26500C>T (p.His8834Tyr) c.26488C>T (p.His8830Tyr) c.26479C>T (p.His8827Tyr) c.26458C>T (p.His8820Tyr) c.26449C>T (p.His8817Tyr) c.26443C>T (p.His8815Tyr) c.26431C>T (p.His8811Tyr) c.26428C>T (p.His8810Tyr) c.26389C>T (p.His8797Tyr) c.26374C>T (p.His8792Tyr) c.26359C>T (p.His8787Tyr) c.26347C>T (p.His8783Tyr) c.26344C>T (p.His8782Tyr) c.26341C>T (p.His8781Tyr) c.*164C>T (n.*164C>T) c.26497C>T (p.His8833Tyr) c.26485C>T (p.His8829Tyr) c.26335C>T (p.His8779Tyr) c.24775C>T (p.His8259Tyr) c.24268C>T (p.His8090Tyr) c.19735C>T (p.His6579Tyr) c.26473C>T (p.His8825Tyr) c.26422C>T (p.His8808Tyr) c.26386C>T (p.His8796Tyr) c.26233C>T (p.His8745Tyr) | |
6 | g.152122477G>C | CA366088541 | ESR1,SYNE1 | c.2887C>G (p.His963Asp) c.26353C>G (p.His8785Asp) c.26209C>G (p.His8737Asp) c.1696C>G c.2071C>G c.1938C>G c.2203C>G (n.2203C>G) c.25138C>G (p.His8380Asp) n.3101C>G c.5129C>G (n.5129C>G) n.10045C>G c.4232C>G (n.4232C>G) n.9937C>G c.851-2789G>C (n.851-2789G>C) n.2967C>G n.6990C>G c.2818C>G (p.His940Asp) c.26500C>G (p.His8834Asp) c.26488C>G (p.His8830Asp) c.26479C>G (p.His8827Asp) c.26458C>G (p.His8820Asp) c.26449C>G (p.His8817Asp) c.26443C>G (p.His8815Asp) c.26431C>G (p.His8811Asp) c.26428C>G (p.His8810Asp) c.26389C>G (p.His8797Asp) c.26374C>G (p.His8792Asp) c.26359C>G (p.His8787Asp) c.26347C>G (p.His8783Asp) c.26344C>G (p.His8782Asp) c.26341C>G (p.His8781Asp) c.*164C>G (n.*164C>G) c.26497C>G (p.His8833Asp) c.26485C>G (p.His8829Asp) c.26335C>G (p.His8779Asp) c.24775C>G (p.His8259Asp) c.24268C>G (p.His8090Asp) c.19735C>G (p.His6579Asp) c.26473C>G (p.His8825Asp) c.26422C>G (p.His8808Asp) c.26386C>G (p.His8796Asp) c.26233C>G (p.His8745Asp) | |
6 | g.152122477G>T | CA366088543 | ESR1,SYNE1 | c.2887C>A (p.His963Asn) c.26353C>A (p.His8785Asn) c.26209C>A (p.His8737Asn) c.1696C>A c.2071C>A c.1938C>A c.2203C>A (n.2203C>A) c.25138C>A (p.His8380Asn) n.3101C>A c.5129C>A (n.5129C>A) n.10045C>A c.4232C>A (n.4232C>A) n.9937C>A c.851-2789G>T (n.851-2789G>T) n.2967C>A n.6990C>A c.2818C>A (p.His940Asn) c.26500C>A (p.His8834Asn) c.26488C>A (p.His8830Asn) c.26479C>A (p.His8827Asn) c.26458C>A (p.His8820Asn) c.26449C>A (p.His8817Asn) c.26443C>A (p.His8815Asn) c.26431C>A (p.His8811Asn) c.26428C>A (p.His8810Asn) c.26389C>A (p.His8797Asn) c.26374C>A (p.His8792Asn) c.26359C>A (p.His8787Asn) c.26347C>A (p.His8783Asn) c.26344C>A (p.His8782Asn) c.26341C>A (p.His8781Asn) c.*164C>A (n.*164C>A) c.26497C>A (p.His8833Asn) c.26485C>A (p.His8829Asn) c.26335C>A (p.His8779Asn) c.24775C>A (p.His8259Asn) c.24268C>A (p.His8090Asn) c.19735C>A (p.His6579Asn) c.26473C>A (p.His8825Asn) c.26422C>A (p.His8808Asn) c.26386C>A (p.His8796Asn) c.26233C>A (p.His8745Asn) | gnomAD v4 |
6 | g.152122478G>A | CA452969516 | ESR1,SYNE1 | c.2886C>T (p.Phe962=) c.26352C>T (p.Phe8784=) c.26208C>T (p.Phe8736=) c.1695C>T c.2070C>T c.1937C>T c.2202C>T (n.2202C>T) c.25137C>T (p.Phe8379=) n.3100C>T c.5128C>T (n.5128C>T) n.10044C>T c.4231C>T (n.4231C>T) n.9936C>T c.851-2788G>A (n.851-2788G>A) n.2966C>T n.6989C>T c.2817C>T (p.Phe939=) c.26499C>T (p.Phe8833=) c.26487C>T (p.Phe8829=) c.26478C>T (p.Phe8826=) c.26457C>T (p.Phe8819=) c.26448C>T (p.Phe8816=) c.26442C>T (p.Phe8814=) c.26430C>T (p.Phe8810=) c.26427C>T (p.Phe8809=) c.26388C>T (p.Phe8796=) c.26373C>T (p.Phe8791=) c.26358C>T (p.Phe8786=) c.26346C>T (p.Phe8782=) c.26343C>T (p.Phe8781=) c.26340C>T (p.Phe8780=) c.*163C>T (n.*163C>T) c.26496C>T (p.Phe8832=) c.26484C>T (p.Phe8828=) c.26334C>T (p.Phe8778=) c.24774C>T (p.Phe8258=) c.24267C>T (p.Phe8089=) c.19734C>T (p.Phe6578=) c.26472C>T (p.Phe8824=) c.26421C>T (p.Phe8807=) c.26385C>T (p.Phe8795=) c.26232C>T (p.Phe8744=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
6 | g.152122478G>C | CA366088547 | ESR1,SYNE1 | c.2886C>G (p.Phe962Leu) c.26352C>G (p.Phe8784Leu) c.26208C>G (p.Phe8736Leu) c.1695C>G c.2070C>G c.1937C>G c.2202C>G (n.2202C>G) c.25137C>G (p.Phe8379Leu) n.3100C>G c.5128C>G (n.5128C>G) n.10044C>G c.4231C>G (n.4231C>G) n.9936C>G c.851-2788G>C (n.851-2788G>C) n.2966C>G n.6989C>G c.2817C>G (p.Phe939Leu) c.26499C>G (p.Phe8833Leu) c.26487C>G (p.Phe8829Leu) c.26478C>G (p.Phe8826Leu) c.26457C>G (p.Phe8819Leu) c.26448C>G (p.Phe8816Leu) c.26442C>G (p.Phe8814Leu) c.26430C>G (p.Phe8810Leu) c.26427C>G (p.Phe8809Leu) c.26388C>G (p.Phe8796Leu) c.26373C>G (p.Phe8791Leu) c.26358C>G (p.Phe8786Leu) c.26346C>G (p.Phe8782Leu) c.26343C>G (p.Phe8781Leu) c.26340C>G (p.Phe8780Leu) c.*163C>G (n.*163C>G) c.26496C>G (p.Phe8832Leu) c.26484C>G (p.Phe8828Leu) c.26334C>G (p.Phe8778Leu) c.24774C>G (p.Phe8258Leu) c.24267C>G (p.Phe8089Leu) c.19734C>G (p.Phe6578Leu) c.26472C>G (p.Phe8824Leu) c.26421C>G (p.Phe8807Leu) c.26385C>G (p.Phe8795Leu) c.26232C>G (p.Phe8744Leu) | |
6 | g.152122478G= | CA1673188808 | ESR1,SYNE1 | c.2886C= (p.Phe962=) c.26352C= (p.Phe8784=) c.26208C= (p.Phe8736=) c.1695C= c.2070C= c.1937C= c.2202C= (n.2202C=) c.25137C= (p.Phe8379=) n.3100C= c.5128C= (n.5128C=) n.10044C= c.4231C= (n.4231C=) n.9936C= c.851-2788G= (n.851-2788G=) n.2966C= n.6989C= c.2817C= (p.Phe939=) c.26499C= (p.Phe8833=) c.26487C= (p.Phe8829=) c.26478C= (p.Phe8826=) c.26457C= (p.Phe8819=) c.26448C= (p.Phe8816=) c.26442C= (p.Phe8814=) c.26430C= (p.Phe8810=) c.26427C= (p.Phe8809=) c.26388C= (p.Phe8796=) c.26373C= (p.Phe8791=) c.26358C= (p.Phe8786=) c.26346C= (p.Phe8782=) c.26343C= (p.Phe8781=) c.26340C= (p.Phe8780=) c.*163C= (n.*163C=) c.26496C= (p.Phe8832=) c.26484C= (p.Phe8828=) c.26334C= (p.Phe8778=) c.24774C= (p.Phe8258=) c.24267C= (p.Phe8089=) c.19734C= (p.Phe6578=) c.26472C= (p.Phe8824=) c.26421C= (p.Phe8807=) c.26385C= (p.Phe8795=) c.26232C= (p.Phe8744=) | |
6 | g.152122478G>T | CA366088545 | ESR1,SYNE1 | c.2886C>A (p.Phe962Leu) c.26352C>A (p.Phe8784Leu) c.26208C>A (p.Phe8736Leu) c.1695C>A c.2070C>A c.1937C>A c.2202C>A (n.2202C>A) c.25137C>A (p.Phe8379Leu) n.3100C>A c.5128C>A (n.5128C>A) n.10044C>A c.4231C>A (n.4231C>A) n.9936C>A c.851-2788G>T (n.851-2788G>T) n.2966C>A n.6989C>A c.2817C>A (p.Phe939Leu) c.26499C>A (p.Phe8833Leu) c.26487C>A (p.Phe8829Leu) c.26478C>A (p.Phe8826Leu) c.26457C>A (p.Phe8819Leu) c.26448C>A (p.Phe8816Leu) c.26442C>A (p.Phe8814Leu) c.26430C>A (p.Phe8810Leu) c.26427C>A (p.Phe8809Leu) c.26388C>A (p.Phe8796Leu) c.26373C>A (p.Phe8791Leu) c.26358C>A (p.Phe8786Leu) c.26346C>A (p.Phe8782Leu) c.26343C>A (p.Phe8781Leu) c.26340C>A (p.Phe8780Leu) c.*163C>A (n.*163C>A) c.26496C>A (p.Phe8832Leu) c.26484C>A (p.Phe8828Leu) c.26334C>A (p.Phe8778Leu) c.24774C>A (p.Phe8258Leu) c.24267C>A (p.Phe8089Leu) c.19734C>A (p.Phe6578Leu) c.26472C>A (p.Phe8824Leu) c.26421C>A (p.Phe8807Leu) c.26385C>A (p.Phe8795Leu) c.26232C>A (p.Phe8744Leu) | ClinVar dbSNP gnomAD v4 |
6 | g.152122479A>C | CA366088550 | ESR1,SYNE1 | c.2885T>G (p.Phe962Cys) c.26351T>G (p.Phe8784Cys) c.26207T>G (p.Phe8736Cys) c.1694T>G c.2069T>G c.1936T>G c.2201T>G (n.2201T>G) c.25136T>G (p.Phe8379Cys) n.3099T>G c.5127T>G (n.5127T>G) n.10043T>G c.4230T>G (n.4230T>G) n.9935T>G c.851-2787A>C (n.851-2787A>C) n.2965T>G n.6988T>G c.2816T>G (p.Phe939Cys) c.26498T>G (p.Phe8833Cys) c.26486T>G (p.Phe8829Cys) c.26477T>G (p.Phe8826Cys) c.26456T>G (p.Phe8819Cys) c.26447T>G (p.Phe8816Cys) c.26441T>G (p.Phe8814Cys) c.26429T>G (p.Phe8810Cys) c.26426T>G (p.Phe8809Cys) c.26387T>G (p.Phe8796Cys) c.26372T>G (p.Phe8791Cys) c.26357T>G (p.Phe8786Cys) c.26345T>G (p.Phe8782Cys) c.26342T>G (p.Phe8781Cys) c.26339T>G (p.Phe8780Cys) c.*162T>G (n.*162T>G) c.26495T>G (p.Phe8832Cys) c.26483T>G (p.Phe8828Cys) c.26333T>G (p.Phe8778Cys) c.24773T>G (p.Phe8258Cys) c.24266T>G (p.Phe8089Cys) c.19733T>G (p.Phe6578Cys) c.26471T>G (p.Phe8824Cys) c.26420T>G (p.Phe8807Cys) c.26384T>G (p.Phe8795Cys) c.26231T>G (p.Phe8744Cys) | |
6 | g.152122479A>G | CA366088553 | ESR1,SYNE1 | c.2885T>C (p.Phe962Ser) c.26351T>C (p.Phe8784Ser) c.26207T>C (p.Phe8736Ser) c.1694T>C c.2069T>C c.1936T>C c.2201T>C (n.2201T>C) c.25136T>C (p.Phe8379Ser) n.3099T>C c.5127T>C (n.5127T>C) n.10043T>C c.4230T>C (n.4230T>C) n.9935T>C c.851-2787A>G (n.851-2787A>G) n.2965T>C n.6988T>C c.2816T>C (p.Phe939Ser) c.26498T>C (p.Phe8833Ser) c.26486T>C (p.Phe8829Ser) c.26477T>C (p.Phe8826Ser) c.26456T>C (p.Phe8819Ser) c.26447T>C (p.Phe8816Ser) c.26441T>C (p.Phe8814Ser) c.26429T>C (p.Phe8810Ser) c.26426T>C (p.Phe8809Ser) c.26387T>C (p.Phe8796Ser) c.26372T>C (p.Phe8791Ser) c.26357T>C (p.Phe8786Ser) c.26345T>C (p.Phe8782Ser) c.26342T>C (p.Phe8781Ser) c.26339T>C (p.Phe8780Ser) c.*162T>C (n.*162T>C) c.26495T>C (p.Phe8832Ser) c.26483T>C (p.Phe8828Ser) c.26333T>C (p.Phe8778Ser) c.24773T>C (p.Phe8258Ser) c.24266T>C (p.Phe8089Ser) c.19733T>C (p.Phe6578Ser) c.26471T>C (p.Phe8824Ser) c.26420T>C (p.Phe8807Ser) c.26384T>C (p.Phe8795Ser) c.26231T>C (p.Phe8744Ser) | |
6 | g.152122479A>T | CA366088555 | ESR1,SYNE1 | c.2885T>A (p.Phe962Tyr) c.26351T>A (p.Phe8784Tyr) c.26207T>A (p.Phe8736Tyr) c.1694T>A c.2069T>A c.1936T>A c.2201T>A (n.2201T>A) c.25136T>A (p.Phe8379Tyr) n.3099T>A c.5127T>A (n.5127T>A) n.10043T>A c.4230T>A (n.4230T>A) n.9935T>A c.851-2787A>T (n.851-2787A>T) n.2965T>A n.6988T>A c.2816T>A (p.Phe939Tyr) c.26498T>A (p.Phe8833Tyr) c.26486T>A (p.Phe8829Tyr) c.26477T>A (p.Phe8826Tyr) c.26456T>A (p.Phe8819Tyr) c.26447T>A (p.Phe8816Tyr) c.26441T>A (p.Phe8814Tyr) c.26429T>A (p.Phe8810Tyr) c.26426T>A (p.Phe8809Tyr) c.26387T>A (p.Phe8796Tyr) c.26372T>A (p.Phe8791Tyr) c.26357T>A (p.Phe8786Tyr) c.26345T>A (p.Phe8782Tyr) c.26342T>A (p.Phe8781Tyr) c.26339T>A (p.Phe8780Tyr) c.*162T>A (n.*162T>A) c.26495T>A (p.Phe8832Tyr) c.26483T>A (p.Phe8828Tyr) c.26333T>A (p.Phe8778Tyr) c.24773T>A (p.Phe8258Tyr) c.24266T>A (p.Phe8089Tyr) c.19733T>A (p.Phe6578Tyr) c.26471T>A (p.Phe8824Tyr) c.26420T>A (p.Phe8807Tyr) c.26384T>A (p.Phe8795Tyr) c.26231T>A (p.Phe8744Tyr) | |
6 | g.152122480A>C | CA366088556 | ESR1,SYNE1 | c.2884T>G (p.Phe962Val) c.26350T>G (p.Phe8784Val) c.26206T>G (p.Phe8736Val) c.1693T>G c.2068T>G c.1935T>G c.2200T>G (n.2200T>G) c.25135T>G (p.Phe8379Val) n.3098T>G c.5126T>G (n.5126T>G) n.10042T>G c.4229T>G (n.4229T>G) n.9934T>G c.851-2786A>C (n.851-2786A>C) n.2964T>G n.6987T>G c.2815T>G (p.Phe939Val) c.26497T>G (p.Phe8833Val) c.26485T>G (p.Phe8829Val) c.26476T>G (p.Phe8826Val) c.26455T>G (p.Phe8819Val) c.26446T>G (p.Phe8816Val) c.26440T>G (p.Phe8814Val) c.26428T>G (p.Phe8810Val) c.26425T>G (p.Phe8809Val) c.26386T>G (p.Phe8796Val) c.26371T>G (p.Phe8791Val) c.26356T>G (p.Phe8786Val) c.26344T>G (p.Phe8782Val) c.26341T>G (p.Phe8781Val) c.26338T>G (p.Phe8780Val) c.*161T>G (n.*161T>G) c.26494T>G (p.Phe8832Val) c.26482T>G (p.Phe8828Val) c.26332T>G (p.Phe8778Val) c.24772T>G (p.Phe8258Val) c.24265T>G (p.Phe8089Val) c.19732T>G (p.Phe6578Val) c.26470T>G (p.Phe8824Val) c.26419T>G (p.Phe8807Val) c.26383T>G (p.Phe8795Val) c.26230T>G (p.Phe8744Val) | |
6 | g.152122480A>G | CA366088558 | ESR1,SYNE1 | c.2884T>C (p.Phe962Leu) c.26350T>C (p.Phe8784Leu) c.26206T>C (p.Phe8736Leu) c.1693T>C c.2068T>C c.1935T>C c.2200T>C (n.2200T>C) c.25135T>C (p.Phe8379Leu) n.3098T>C c.5126T>C (n.5126T>C) n.10042T>C c.4229T>C (n.4229T>C) n.9934T>C c.851-2786A>G (n.851-2786A>G) n.2964T>C n.6987T>C c.2815T>C (p.Phe939Leu) c.26497T>C (p.Phe8833Leu) c.26485T>C (p.Phe8829Leu) c.26476T>C (p.Phe8826Leu) c.26455T>C (p.Phe8819Leu) c.26446T>C (p.Phe8816Leu) c.26440T>C (p.Phe8814Leu) c.26428T>C (p.Phe8810Leu) c.26425T>C (p.Phe8809Leu) c.26386T>C (p.Phe8796Leu) c.26371T>C (p.Phe8791Leu) c.26356T>C (p.Phe8786Leu) c.26344T>C (p.Phe8782Leu) c.26341T>C (p.Phe8781Leu) c.26338T>C (p.Phe8780Leu) c.*161T>C (n.*161T>C) c.26494T>C (p.Phe8832Leu) c.26482T>C (p.Phe8828Leu) c.26332T>C (p.Phe8778Leu) c.24772T>C (p.Phe8258Leu) c.24265T>C (p.Phe8089Leu) c.19732T>C (p.Phe6578Leu) c.26470T>C (p.Phe8824Leu) c.26419T>C (p.Phe8807Leu) c.26383T>C (p.Phe8795Leu) c.26230T>C (p.Phe8744Leu) | |
6 | g.152122480A>T | CA366088560 | ESR1,SYNE1 | c.2884T>A (p.Phe962Ile) c.26350T>A (p.Phe8784Ile) c.26206T>A (p.Phe8736Ile) c.1693T>A c.2068T>A c.1935T>A c.2200T>A (n.2200T>A) c.25135T>A (p.Phe8379Ile) n.3098T>A c.5126T>A (n.5126T>A) n.10042T>A c.4229T>A (n.4229T>A) n.9934T>A c.851-2786A>T (n.851-2786A>T) n.2964T>A n.6987T>A c.2815T>A (p.Phe939Ile) c.26497T>A (p.Phe8833Ile) c.26485T>A (p.Phe8829Ile) c.26476T>A (p.Phe8826Ile) c.26455T>A (p.Phe8819Ile) c.26446T>A (p.Phe8816Ile) c.26440T>A (p.Phe8814Ile) c.26428T>A (p.Phe8810Ile) c.26425T>A (p.Phe8809Ile) c.26386T>A (p.Phe8796Ile) c.26371T>A (p.Phe8791Ile) c.26356T>A (p.Phe8786Ile) c.26344T>A (p.Phe8782Ile) c.26341T>A (p.Phe8781Ile) c.26338T>A (p.Phe8780Ile) c.*161T>A (n.*161T>A) c.26494T>A (p.Phe8832Ile) c.26482T>A (p.Phe8828Ile) c.26332T>A (p.Phe8778Ile) c.24772T>A (p.Phe8258Ile) c.24265T>A (p.Phe8089Ile) c.19732T>A (p.Phe6578Ile) c.26470T>A (p.Phe8824Ile) c.26419T>A (p.Phe8807Ile) c.26383T>A (p.Phe8795Ile) c.26230T>A (p.Phe8744Ile) | |
6 | g.152122481T>A | CA452969522 | ESR1,SYNE1 | c.2883A>T (p.Ser961=) c.26349A>T (p.Ser8783=) c.26205A>T (p.Ser8735=) c.1692A>T c.2067A>T c.1934A>T c.2199A>T (n.2199A>T) c.25134A>T (p.Ser8378=) n.3097A>T c.5125A>T (n.5125A>T) n.10041A>T c.4228A>T (n.4228A>T) n.9933A>T c.851-2785T>A (n.851-2785T>A) n.2963A>T n.6986A>T c.2814A>T (p.Ser938=) c.26496A>T (p.Ser8832=) c.26484A>T (p.Ser8828=) c.26475A>T (p.Ser8825=) c.26454A>T (p.Ser8818=) c.26445A>T (p.Ser8815=) c.26439A>T (p.Ser8813=) c.26427A>T (p.Ser8809=) c.26424A>T (p.Ser8808=) c.26385A>T (p.Ser8795=) c.26370A>T (p.Ser8790=) c.26355A>T (p.Ser8785=) c.26343A>T (p.Ser8781=) c.26340A>T (p.Ser8780=) c.26337A>T (p.Ser8779=) c.*160A>T (n.*160A>T) c.26493A>T (p.Ser8831=) c.26481A>T (p.Ser8827=) c.26331A>T (p.Ser8777=) c.24771A>T (p.Ser8257=) c.24264A>T (p.Ser8088=) c.19731A>T (p.Ser6577=) c.26469A>T (p.Ser8823=) c.26418A>T (p.Ser8806=) c.26382A>T (p.Ser8794=) c.26229A>T (p.Ser8743=) | |
6 | g.152122481T>C | CA452969523 | ESR1,SYNE1 | c.2883A>G (p.Ser961=) c.26349A>G (p.Ser8783=) c.26205A>G (p.Ser8735=) c.1692A>G c.2067A>G c.1934A>G c.2199A>G (n.2199A>G) c.25134A>G (p.Ser8378=) n.3097A>G c.5125A>G (n.5125A>G) n.10041A>G c.4228A>G (n.4228A>G) n.9933A>G c.851-2785T>C (n.851-2785T>C) n.2963A>G n.6986A>G c.2814A>G (p.Ser938=) c.26496A>G (p.Ser8832=) c.26484A>G (p.Ser8828=) c.26475A>G (p.Ser8825=) c.26454A>G (p.Ser8818=) c.26445A>G (p.Ser8815=) c.26439A>G (p.Ser8813=) c.26427A>G (p.Ser8809=) c.26424A>G (p.Ser8808=) c.26385A>G (p.Ser8795=) c.26370A>G (p.Ser8790=) c.26355A>G (p.Ser8785=) c.26343A>G (p.Ser8781=) c.26340A>G (p.Ser8780=) c.26337A>G (p.Ser8779=) c.*160A>G (n.*160A>G) c.26493A>G (p.Ser8831=) c.26481A>G (p.Ser8827=) c.26331A>G (p.Ser8777=) c.24771A>G (p.Ser8257=) c.24264A>G (p.Ser8088=) c.19731A>G (p.Ser6577=) c.26469A>G (p.Ser8823=) c.26418A>G (p.Ser8806=) c.26382A>G (p.Ser8794=) c.26229A>G (p.Ser8743=) | |
6 | g.152122481T>G | CA452969524 | ESR1,SYNE1 | c.2883A>C (p.Ser961=) c.26349A>C (p.Ser8783=) c.26205A>C (p.Ser8735=) c.1692A>C c.2067A>C c.1934A>C c.2199A>C (n.2199A>C) c.25134A>C (p.Ser8378=) n.3097A>C c.5125A>C (n.5125A>C) n.10041A>C c.4228A>C (n.4228A>C) n.9933A>C c.851-2785T>G (n.851-2785T>G) n.2963A>C n.6986A>C c.2814A>C (p.Ser938=) c.26496A>C (p.Ser8832=) c.26484A>C (p.Ser8828=) c.26475A>C (p.Ser8825=) c.26454A>C (p.Ser8818=) c.26445A>C (p.Ser8815=) c.26439A>C (p.Ser8813=) c.26427A>C (p.Ser8809=) c.26424A>C (p.Ser8808=) c.26385A>C (p.Ser8795=) c.26370A>C (p.Ser8790=) c.26355A>C (p.Ser8785=) c.26343A>C (p.Ser8781=) c.26340A>C (p.Ser8780=) c.26337A>C (p.Ser8779=) c.*160A>C (n.*160A>C) c.26493A>C (p.Ser8831=) c.26481A>C (p.Ser8827=) c.26331A>C (p.Ser8777=) c.24771A>C (p.Ser8257=) c.24264A>C (p.Ser8088=) c.19731A>C (p.Ser6577=) c.26469A>C (p.Ser8823=) c.26418A>C (p.Ser8806=) c.26382A>C (p.Ser8794=) c.26229A>C (p.Ser8743=) | |
6 | g.152122482G>A | CA4052582 | ESR1,SYNE1 | c.2882C>T (p.Ser961Leu) c.26348C>T (p.Ser8783Leu) c.26204C>T (p.Ser8735Leu) c.1691C>T c.2066C>T c.1933C>T c.2198C>T (n.2198C>T) c.25133C>T (p.Ser8378Leu) n.3096C>T c.5124C>T (n.5124C>T) n.10040C>T c.4227C>T (n.4227C>T) n.9932C>T c.851-2784G>A (n.851-2784G>A) n.2962C>T n.6985C>T c.2813C>T (p.Ser938Leu) c.26495C>T (p.Ser8832Leu) c.26483C>T (p.Ser8828Leu) c.26474C>T (p.Ser8825Leu) c.26453C>T (p.Ser8818Leu) c.26444C>T (p.Ser8815Leu) c.26438C>T (p.Ser8813Leu) c.26426C>T (p.Ser8809Leu) c.26423C>T (p.Ser8808Leu) c.26384C>T (p.Ser8795Leu) c.26369C>T (p.Ser8790Leu) c.26354C>T (p.Ser8785Leu) c.26342C>T (p.Ser8781Leu) c.26339C>T (p.Ser8780Leu) c.26336C>T (p.Ser8779Leu) c.*159C>T (n.*159C>T) c.26492C>T (p.Ser8831Leu) c.26480C>T (p.Ser8827Leu) c.26330C>T (p.Ser8777Leu) c.24770C>T (p.Ser8257Leu) c.24263C>T (p.Ser8088Leu) c.19730C>T (p.Ser6577Leu) c.26468C>T (p.Ser8823Leu) c.26417C>T (p.Ser8806Leu) c.26381C>T (p.Ser8794Leu) c.26228C>T (p.Ser8743Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122482G>C | CA366088562 | ESR1,SYNE1 | c.2882C>G (p.Ser961Ter) c.26348C>G (p.Ser8783Ter) c.26204C>G (p.Ser8735Ter) c.1691C>G c.2066C>G c.1933C>G c.2198C>G (n.2198C>G) c.25133C>G (p.Ser8378Ter) n.3096C>G c.5124C>G (n.5124C>G) n.10040C>G c.4227C>G (n.4227C>G) n.9932C>G c.851-2784G>C (n.851-2784G>C) n.2962C>G n.6985C>G c.2813C>G (p.Ser938Ter) c.26495C>G (p.Ser8832Ter) c.26483C>G (p.Ser8828Ter) c.26474C>G (p.Ser8825Ter) c.26453C>G (p.Ser8818Ter) c.26444C>G (p.Ser8815Ter) c.26438C>G (p.Ser8813Ter) c.26426C>G (p.Ser8809Ter) c.26423C>G (p.Ser8808Ter) c.26384C>G (p.Ser8795Ter) c.26369C>G (p.Ser8790Ter) c.26354C>G (p.Ser8785Ter) c.26342C>G (p.Ser8781Ter) c.26339C>G (p.Ser8780Ter) c.26336C>G (p.Ser8779Ter) c.*159C>G (n.*159C>G) c.26492C>G (p.Ser8831Ter) c.26480C>G (p.Ser8827Ter) c.26330C>G (p.Ser8777Ter) c.24770C>G (p.Ser8257Ter) c.24263C>G (p.Ser8088Ter) c.19730C>G (p.Ser6577Ter) c.26468C>G (p.Ser8823Ter) c.26417C>G (p.Ser8806Ter) c.26381C>G (p.Ser8794Ter) c.26228C>G (p.Ser8743Ter) | |
6 | g.152122482G= | CA1673188811 | ESR1,SYNE1 | c.2882C= (p.Ser961=) c.26348C= (p.Ser8783=) c.26204C= (p.Ser8735=) c.1691C= c.2066C= c.1933C= c.2198C= (n.2198C=) c.25133C= (p.Ser8378=) n.3096C= c.5124C= (n.5124C=) n.10040C= c.4227C= (n.4227C=) n.9932C= c.851-2784G= (n.851-2784G=) n.2962C= n.6985C= c.2813C= (p.Ser938=) c.26495C= (p.Ser8832=) c.26483C= (p.Ser8828=) c.26474C= (p.Ser8825=) c.26453C= (p.Ser8818=) c.26444C= (p.Ser8815=) c.26438C= (p.Ser8813=) c.26426C= (p.Ser8809=) c.26423C= (p.Ser8808=) c.26384C= (p.Ser8795=) c.26369C= (p.Ser8790=) c.26354C= (p.Ser8785=) c.26342C= (p.Ser8781=) c.26339C= (p.Ser8780=) c.26336C= (p.Ser8779=) c.*159C= (n.*159C=) c.26492C= (p.Ser8831=) c.26480C= (p.Ser8827=) c.26330C= (p.Ser8777=) c.24770C= (p.Ser8257=) c.24263C= (p.Ser8088=) c.19730C= (p.Ser6577=) c.26468C= (p.Ser8823=) c.26417C= (p.Ser8806=) c.26381C= (p.Ser8794=) c.26228C= (p.Ser8743=) | |
6 | g.152122482G>T | CA366088563 | ESR1,SYNE1 | c.2882C>A (p.Ser961Ter) c.26348C>A (p.Ser8783Ter) c.26204C>A (p.Ser8735Ter) c.1691C>A c.2066C>A c.1933C>A c.2198C>A (n.2198C>A) c.25133C>A (p.Ser8378Ter) n.3096C>A c.5124C>A (n.5124C>A) n.10040C>A c.4227C>A (n.4227C>A) n.9932C>A c.851-2784G>T (n.851-2784G>T) n.2962C>A n.6985C>A c.2813C>A (p.Ser938Ter) c.26495C>A (p.Ser8832Ter) c.26483C>A (p.Ser8828Ter) c.26474C>A (p.Ser8825Ter) c.26453C>A (p.Ser8818Ter) c.26444C>A (p.Ser8815Ter) c.26438C>A (p.Ser8813Ter) c.26426C>A (p.Ser8809Ter) c.26423C>A (p.Ser8808Ter) c.26384C>A (p.Ser8795Ter) c.26369C>A (p.Ser8790Ter) c.26354C>A (p.Ser8785Ter) c.26342C>A (p.Ser8781Ter) c.26339C>A (p.Ser8780Ter) c.26336C>A (p.Ser8779Ter) c.*159C>A (n.*159C>A) c.26492C>A (p.Ser8831Ter) c.26480C>A (p.Ser8827Ter) c.26330C>A (p.Ser8777Ter) c.24770C>A (p.Ser8257Ter) c.24263C>A (p.Ser8088Ter) c.19730C>A (p.Ser6577Ter) c.26468C>A (p.Ser8823Ter) c.26417C>A (p.Ser8806Ter) c.26381C>A (p.Ser8794Ter) c.26228C>A (p.Ser8743Ter) | |
6 | g.152122483A= | CA1673188816 | ESR1,SYNE1 | c.2881T= (p.Ser961=) c.26347T= (p.Ser8783=) c.26203T= (p.Ser8735=) c.1690T= c.2065T= c.1932T= c.2197T= (n.2197T=) c.25132T= (p.Ser8378=) n.3095T= c.5123T= (n.5123T=) n.10039T= c.4226T= (n.4226T=) n.9931T= c.851-2783A= (n.851-2783A=) n.2961T= n.6984T= c.2812T= (p.Ser938=) c.26494T= (p.Ser8832=) c.26482T= (p.Ser8828=) c.26473T= (p.Ser8825=) c.26452T= (p.Ser8818=) c.26443T= (p.Ser8815=) c.26437T= (p.Ser8813=) c.26425T= (p.Ser8809=) c.26422T= (p.Ser8808=) c.26383T= (p.Ser8795=) c.26368T= (p.Ser8790=) c.26353T= (p.Ser8785=) c.26341T= (p.Ser8781=) c.26338T= (p.Ser8780=) c.26335T= (p.Ser8779=) c.*158T= (n.*158T=) c.26491T= (p.Ser8831=) c.26479T= (p.Ser8827=) c.26329T= (p.Ser8777=) c.24769T= (p.Ser8257=) c.24262T= (p.Ser8088=) c.19729T= (p.Ser6577=) c.26467T= (p.Ser8823=) c.26416T= (p.Ser8806=) c.26380T= (p.Ser8794=) c.26227T= (p.Ser8743=) | |
6 | g.152122483A>C | CA366088564 | ESR1,SYNE1 | c.2881T>G (p.Ser961Ala) c.26347T>G (p.Ser8783Ala) c.26203T>G (p.Ser8735Ala) c.1690T>G c.2065T>G c.1932T>G c.2197T>G (n.2197T>G) c.25132T>G (p.Ser8378Ala) n.3095T>G c.5123T>G (n.5123T>G) n.10039T>G c.4226T>G (n.4226T>G) n.9931T>G c.851-2783A>C (n.851-2783A>C) n.2961T>G n.6984T>G c.2812T>G (p.Ser938Ala) c.26494T>G (p.Ser8832Ala) c.26482T>G (p.Ser8828Ala) c.26473T>G (p.Ser8825Ala) c.26452T>G (p.Ser8818Ala) c.26443T>G (p.Ser8815Ala) c.26437T>G (p.Ser8813Ala) c.26425T>G (p.Ser8809Ala) c.26422T>G (p.Ser8808Ala) c.26383T>G (p.Ser8795Ala) c.26368T>G (p.Ser8790Ala) c.26353T>G (p.Ser8785Ala) c.26341T>G (p.Ser8781Ala) c.26338T>G (p.Ser8780Ala) c.26335T>G (p.Ser8779Ala) c.*158T>G (n.*158T>G) c.26491T>G (p.Ser8831Ala) c.26479T>G (p.Ser8827Ala) c.26329T>G (p.Ser8777Ala) c.24769T>G (p.Ser8257Ala) c.24262T>G (p.Ser8088Ala) c.19729T>G (p.Ser6577Ala) c.26467T>G (p.Ser8823Ala) c.26416T>G (p.Ser8806Ala) c.26380T>G (p.Ser8794Ala) c.26227T>G (p.Ser8743Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122483A>G | CA366088565 | ESR1,SYNE1 | c.2881T>C (p.Ser961Pro) c.26347T>C (p.Ser8783Pro) c.26203T>C (p.Ser8735Pro) c.1690T>C c.2065T>C c.1932T>C c.2197T>C (n.2197T>C) c.25132T>C (p.Ser8378Pro) n.3095T>C c.5123T>C (n.5123T>C) n.10039T>C c.4226T>C (n.4226T>C) n.9931T>C c.851-2783A>G (n.851-2783A>G) n.2961T>C n.6984T>C c.2812T>C (p.Ser938Pro) c.26494T>C (p.Ser8832Pro) c.26482T>C (p.Ser8828Pro) c.26473T>C (p.Ser8825Pro) c.26452T>C (p.Ser8818Pro) c.26443T>C (p.Ser8815Pro) c.26437T>C (p.Ser8813Pro) c.26425T>C (p.Ser8809Pro) c.26422T>C (p.Ser8808Pro) c.26383T>C (p.Ser8795Pro) c.26368T>C (p.Ser8790Pro) c.26353T>C (p.Ser8785Pro) c.26341T>C (p.Ser8781Pro) c.26338T>C (p.Ser8780Pro) c.26335T>C (p.Ser8779Pro) c.*158T>C (n.*158T>C) c.26491T>C (p.Ser8831Pro) c.26479T>C (p.Ser8827Pro) c.26329T>C (p.Ser8777Pro) c.24769T>C (p.Ser8257Pro) c.24262T>C (p.Ser8088Pro) c.19729T>C (p.Ser6577Pro) c.26467T>C (p.Ser8823Pro) c.26416T>C (p.Ser8806Pro) c.26380T>C (p.Ser8794Pro) c.26227T>C (p.Ser8743Pro) | gnomAD v3 gnomAD v4 |
6 | g.152122483A>T | CA366088566 | ESR1,SYNE1 | c.2881T>A (p.Ser961Thr) c.26347T>A (p.Ser8783Thr) c.26203T>A (p.Ser8735Thr) c.1690T>A c.2065T>A c.1932T>A c.2197T>A (n.2197T>A) c.25132T>A (p.Ser8378Thr) n.3095T>A c.5123T>A (n.5123T>A) n.10039T>A c.4226T>A (n.4226T>A) n.9931T>A c.851-2783A>T (n.851-2783A>T) n.2961T>A n.6984T>A c.2812T>A (p.Ser938Thr) c.26494T>A (p.Ser8832Thr) c.26482T>A (p.Ser8828Thr) c.26473T>A (p.Ser8825Thr) c.26452T>A (p.Ser8818Thr) c.26443T>A (p.Ser8815Thr) c.26437T>A (p.Ser8813Thr) c.26425T>A (p.Ser8809Thr) c.26422T>A (p.Ser8808Thr) c.26383T>A (p.Ser8795Thr) c.26368T>A (p.Ser8790Thr) c.26353T>A (p.Ser8785Thr) c.26341T>A (p.Ser8781Thr) c.26338T>A (p.Ser8780Thr) c.26335T>A (p.Ser8779Thr) c.*158T>A (n.*158T>A) c.26491T>A (p.Ser8831Thr) c.26479T>A (p.Ser8827Thr) c.26329T>A (p.Ser8777Thr) c.24769T>A (p.Ser8257Thr) c.24262T>A (p.Ser8088Thr) c.19729T>A (p.Ser6577Thr) c.26467T>A (p.Ser8823Thr) c.26416T>A (p.Ser8806Thr) c.26380T>A (p.Ser8794Thr) c.26227T>A (p.Ser8743Thr) | |
6 | g.152122484C>A | CA452969529 | ESR1,SYNE1 | c.2880G>T (p.Arg960=) c.26346G>T (p.Arg8782=) c.26202G>T (p.Arg8734=) c.1689G>T c.2064G>T c.1931G>T c.2196G>T (n.2196G>T) c.25131G>T (p.Arg8377=) n.3094G>T c.5122G>T (n.5122G>T) n.10038G>T c.4225G>T (n.4225G>T) n.9930G>T c.851-2782C>A (n.851-2782C>A) n.2960G>T n.6983G>T c.2811G>T (p.Arg937=) c.26493G>T (p.Arg8831=) c.26481G>T (p.Arg8827=) c.26472G>T (p.Arg8824=) c.26451G>T (p.Arg8817=) c.26442G>T (p.Arg8814=) c.26436G>T (p.Arg8812=) c.26424G>T (p.Arg8808=) c.26421G>T (p.Arg8807=) c.26382G>T (p.Arg8794=) c.26367G>T (p.Arg8789=) c.26352G>T (p.Arg8784=) c.26340G>T (p.Arg8780=) c.26337G>T (p.Arg8779=) c.26334G>T (p.Arg8778=) c.*157G>T (n.*157G>T) c.26490G>T (p.Arg8830=) c.26478G>T (p.Arg8826=) c.26328G>T (p.Arg8776=) c.24768G>T (p.Arg8256=) c.24261G>T (p.Arg8087=) c.19728G>T (p.Arg6576=) c.26466G>T (p.Arg8822=) c.26415G>T (p.Arg8805=) c.26379G>T (p.Arg8793=) c.26226G>T (p.Arg8742=) | |
6 | g.152122484C>G | CA452969530 | ESR1,SYNE1 | c.2880G>C (p.Arg960=) c.26346G>C (p.Arg8782=) c.26202G>C (p.Arg8734=) c.1689G>C c.2064G>C c.1931G>C c.2196G>C (n.2196G>C) c.25131G>C (p.Arg8377=) n.3094G>C c.5122G>C (n.5122G>C) n.10038G>C c.4225G>C (n.4225G>C) n.9930G>C c.851-2782C>G (n.851-2782C>G) n.2960G>C n.6983G>C c.2811G>C (p.Arg937=) c.26493G>C (p.Arg8831=) c.26481G>C (p.Arg8827=) c.26472G>C (p.Arg8824=) c.26451G>C (p.Arg8817=) c.26442G>C (p.Arg8814=) c.26436G>C (p.Arg8812=) c.26424G>C (p.Arg8808=) c.26421G>C (p.Arg8807=) c.26382G>C (p.Arg8794=) c.26367G>C (p.Arg8789=) c.26352G>C (p.Arg8784=) c.26340G>C (p.Arg8780=) c.26337G>C (p.Arg8779=) c.26334G>C (p.Arg8778=) c.*157G>C (n.*157G>C) c.26490G>C (p.Arg8830=) c.26478G>C (p.Arg8826=) c.26328G>C (p.Arg8776=) c.24768G>C (p.Arg8256=) c.24261G>C (p.Arg8087=) c.19728G>C (p.Arg6576=) c.26466G>C (p.Arg8822=) c.26415G>C (p.Arg8805=) c.26379G>C (p.Arg8793=) c.26226G>C (p.Arg8742=) | |
6 | g.152122484C>T | CA452969533 | ESR1,SYNE1 | c.2880G>A (p.Arg960=) c.26346G>A (p.Arg8782=) c.26202G>A (p.Arg8734=) c.1689G>A c.2064G>A c.1931G>A c.2196G>A (n.2196G>A) c.25131G>A (p.Arg8377=) n.3094G>A c.5122G>A (n.5122G>A) n.10038G>A c.4225G>A (n.4225G>A) n.9930G>A c.851-2782C>T (n.851-2782C>T) n.2960G>A n.6983G>A c.2811G>A (p.Arg937=) c.26493G>A (p.Arg8831=) c.26481G>A (p.Arg8827=) c.26472G>A (p.Arg8824=) c.26451G>A (p.Arg8817=) c.26442G>A (p.Arg8814=) c.26436G>A (p.Arg8812=) c.26424G>A (p.Arg8808=) c.26421G>A (p.Arg8807=) c.26382G>A (p.Arg8794=) c.26367G>A (p.Arg8789=) c.26352G>A (p.Arg8784=) c.26340G>A (p.Arg8780=) c.26337G>A (p.Arg8779=) c.26334G>A (p.Arg8778=) c.*157G>A (n.*157G>A) c.26490G>A (p.Arg8830=) c.26478G>A (p.Arg8826=) c.26328G>A (p.Arg8776=) c.24768G>A (p.Arg8256=) c.24261G>A (p.Arg8087=) c.19728G>A (p.Arg6576=) c.26466G>A (p.Arg8822=) c.26415G>A (p.Arg8805=) c.26379G>A (p.Arg8793=) c.26226G>A (p.Arg8742=) | |
6 | g.152122485C>A | CA366088569 | ESR1,SYNE1 | c.2879G>T (p.Arg960Leu) c.26345G>T (p.Arg8782Leu) c.26201G>T (p.Arg8734Leu) c.1688G>T c.2063G>T c.1930G>T c.2195G>T (n.2195G>T) c.25130G>T (p.Arg8377Leu) n.3093G>T c.5121G>T (n.5121G>T) n.10037G>T c.4224G>T (n.4224G>T) n.9929G>T c.851-2781C>A (n.851-2781C>A) n.2959G>T n.6982G>T c.2810G>T (p.Arg937Leu) c.26492G>T (p.Arg8831Leu) c.26480G>T (p.Arg8827Leu) c.26471G>T (p.Arg8824Leu) c.26450G>T (p.Arg8817Leu) c.26441G>T (p.Arg8814Leu) c.26435G>T (p.Arg8812Leu) c.26423G>T (p.Arg8808Leu) c.26420G>T (p.Arg8807Leu) c.26381G>T (p.Arg8794Leu) c.26366G>T (p.Arg8789Leu) c.26351G>T (p.Arg8784Leu) c.26339G>T (p.Arg8780Leu) c.26336G>T (p.Arg8779Leu) c.26333G>T (p.Arg8778Leu) c.*156G>T (n.*156G>T) c.26489G>T (p.Arg8830Leu) c.26477G>T (p.Arg8826Leu) c.26327G>T (p.Arg8776Leu) c.24767G>T (p.Arg8256Leu) c.24260G>T (p.Arg8087Leu) c.19727G>T (p.Arg6576Leu) c.26465G>T (p.Arg8822Leu) c.26414G>T (p.Arg8805Leu) c.26378G>T (p.Arg8793Leu) c.26225G>T (p.Arg8742Leu) | |
6 | g.152122485C= | CA1673188826 | ESR1,SYNE1 | c.2879G= (p.Arg960=) c.26345G= (p.Arg8782=) c.26201G= (p.Arg8734=) c.1688G= c.2063G= c.1930G= c.2195G= (n.2195G=) c.25130G= (p.Arg8377=) n.3093G= c.5121G= (n.5121G=) n.10037G= c.4224G= (n.4224G=) n.9929G= c.851-2781C= (n.851-2781C=) n.2959G= n.6982G= c.2810G= (p.Arg937=) c.26492G= (p.Arg8831=) c.26480G= (p.Arg8827=) c.26471G= (p.Arg8824=) c.26450G= (p.Arg8817=) c.26441G= (p.Arg8814=) c.26435G= (p.Arg8812=) c.26423G= (p.Arg8808=) c.26420G= (p.Arg8807=) c.26381G= (p.Arg8794=) c.26366G= (p.Arg8789=) c.26351G= (p.Arg8784=) c.26339G= (p.Arg8780=) c.26336G= (p.Arg8779=) c.26333G= (p.Arg8778=) c.*156G= (n.*156G=) c.26489G= (p.Arg8830=) c.26477G= (p.Arg8826=) c.26327G= (p.Arg8776=) c.24767G= (p.Arg8256=) c.24260G= (p.Arg8087=) c.19727G= (p.Arg6576=) c.26465G= (p.Arg8822=) c.26414G= (p.Arg8805=) c.26378G= (p.Arg8793=) c.26225G= (p.Arg8742=) | |
6 | g.152122485C>G | CA366088571 | ESR1,SYNE1 | c.2879G>C (p.Arg960Pro) c.26345G>C (p.Arg8782Pro) c.26201G>C (p.Arg8734Pro) c.1688G>C c.2063G>C c.1930G>C c.2195G>C (n.2195G>C) c.25130G>C (p.Arg8377Pro) n.3093G>C c.5121G>C (n.5121G>C) n.10037G>C c.4224G>C (n.4224G>C) n.9929G>C c.851-2781C>G (n.851-2781C>G) n.2959G>C n.6982G>C c.2810G>C (p.Arg937Pro) c.26492G>C (p.Arg8831Pro) c.26480G>C (p.Arg8827Pro) c.26471G>C (p.Arg8824Pro) c.26450G>C (p.Arg8817Pro) c.26441G>C (p.Arg8814Pro) c.26435G>C (p.Arg8812Pro) c.26423G>C (p.Arg8808Pro) c.26420G>C (p.Arg8807Pro) c.26381G>C (p.Arg8794Pro) c.26366G>C (p.Arg8789Pro) c.26351G>C (p.Arg8784Pro) c.26339G>C (p.Arg8780Pro) c.26336G>C (p.Arg8779Pro) c.26333G>C (p.Arg8778Pro) c.*156G>C (n.*156G>C) c.26489G>C (p.Arg8830Pro) c.26477G>C (p.Arg8826Pro) c.26327G>C (p.Arg8776Pro) c.24767G>C (p.Arg8256Pro) c.24260G>C (p.Arg8087Pro) c.19727G>C (p.Arg6576Pro) c.26465G>C (p.Arg8822Pro) c.26414G>C (p.Arg8805Pro) c.26378G>C (p.Arg8793Pro) c.26225G>C (p.Arg8742Pro) | |
6 | g.152122485C>T | CA4052583 | ESR1,SYNE1 | c.2879G>A (p.Arg960Gln) c.26345G>A (p.Arg8782Gln) c.26201G>A (p.Arg8734Gln) c.1688G>A c.2063G>A c.1930G>A c.2195G>A (n.2195G>A) c.25130G>A (p.Arg8377Gln) n.3093G>A c.5121G>A (n.5121G>A) n.10037G>A c.4224G>A (n.4224G>A) n.9929G>A c.851-2781C>T (n.851-2781C>T) n.2959G>A n.6982G>A c.2810G>A (p.Arg937Gln) c.26492G>A (p.Arg8831Gln) c.26480G>A (p.Arg8827Gln) c.26471G>A (p.Arg8824Gln) c.26450G>A (p.Arg8817Gln) c.26441G>A (p.Arg8814Gln) c.26435G>A (p.Arg8812Gln) c.26423G>A (p.Arg8808Gln) c.26420G>A (p.Arg8807Gln) c.26381G>A (p.Arg8794Gln) c.26366G>A (p.Arg8789Gln) c.26351G>A (p.Arg8784Gln) c.26339G>A (p.Arg8780Gln) c.26336G>A (p.Arg8779Gln) c.26333G>A (p.Arg8778Gln) c.*156G>A (n.*156G>A) c.26489G>A (p.Arg8830Gln) c.26477G>A (p.Arg8826Gln) c.26327G>A (p.Arg8776Gln) c.24767G>A (p.Arg8256Gln) c.24260G>A (p.Arg8087Gln) c.19727G>A (p.Arg6576Gln) c.26465G>A (p.Arg8822Gln) c.26414G>A (p.Arg8805Gln) c.26378G>A (p.Arg8793Gln) c.26225G>A (p.Arg8742Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122486G>A | CA366088573 | ESR1,SYNE1 | c.2878C>T (p.Arg960Trp) c.26344C>T (p.Arg8782Trp) c.26200C>T (p.Arg8734Trp) c.1687C>T c.2062C>T c.1929C>T c.2194C>T (n.2194C>T) c.25129C>T (p.Arg8377Trp) n.3092C>T c.5120C>T (n.5120C>T) n.10036C>T c.4223C>T (n.4223C>T) n.9928C>T c.851-2780G>A (n.851-2780G>A) n.2958C>T n.6981C>T c.2809C>T (p.Arg937Trp) c.26491C>T (p.Arg8831Trp) c.26479C>T (p.Arg8827Trp) c.26470C>T (p.Arg8824Trp) c.26449C>T (p.Arg8817Trp) c.26440C>T (p.Arg8814Trp) c.26434C>T (p.Arg8812Trp) c.26422C>T (p.Arg8808Trp) c.26419C>T (p.Arg8807Trp) c.26380C>T (p.Arg8794Trp) c.26365C>T (p.Arg8789Trp) c.26350C>T (p.Arg8784Trp) c.26338C>T (p.Arg8780Trp) c.26335C>T (p.Arg8779Trp) c.26332C>T (p.Arg8778Trp) c.*155C>T (n.*155C>T) c.26488C>T (p.Arg8830Trp) c.26476C>T (p.Arg8826Trp) c.26326C>T (p.Arg8776Trp) c.24766C>T (p.Arg8256Trp) c.24259C>T (p.Arg8087Trp) c.19726C>T (p.Arg6576Trp) c.26464C>T (p.Arg8822Trp) c.26413C>T (p.Arg8805Trp) c.26377C>T (p.Arg8793Trp) c.26224C>T (p.Arg8742Trp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122486G>C | CA150189479 | ESR1,SYNE1 | c.2878C>G (p.Arg960Gly) c.26344C>G (p.Arg8782Gly) c.26200C>G (p.Arg8734Gly) c.1687C>G c.2062C>G c.1929C>G c.2194C>G (n.2194C>G) c.25129C>G (p.Arg8377Gly) n.3092C>G c.5120C>G (n.5120C>G) n.10036C>G c.4223C>G (n.4223C>G) n.9928C>G c.851-2780G>C (n.851-2780G>C) n.2958C>G n.6981C>G c.2809C>G (p.Arg937Gly) c.26491C>G (p.Arg8831Gly) c.26479C>G (p.Arg8827Gly) c.26470C>G (p.Arg8824Gly) c.26449C>G (p.Arg8817Gly) c.26440C>G (p.Arg8814Gly) c.26434C>G (p.Arg8812Gly) c.26422C>G (p.Arg8808Gly) c.26419C>G (p.Arg8807Gly) c.26380C>G (p.Arg8794Gly) c.26365C>G (p.Arg8789Gly) c.26350C>G (p.Arg8784Gly) c.26338C>G (p.Arg8780Gly) c.26335C>G (p.Arg8779Gly) c.26332C>G (p.Arg8778Gly) c.*155C>G (n.*155C>G) c.26488C>G (p.Arg8830Gly) c.26476C>G (p.Arg8826Gly) c.26326C>G (p.Arg8776Gly) c.24766C>G (p.Arg8256Gly) c.24259C>G (p.Arg8087Gly) c.19726C>G (p.Arg6576Gly) c.26464C>G (p.Arg8822Gly) c.26413C>G (p.Arg8805Gly) c.26377C>G (p.Arg8793Gly) c.26224C>G (p.Arg8742Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.152122486G= | CA1673188835 | ESR1,SYNE1 | c.2878C= (p.Arg960=) c.26344C= (p.Arg8782=) c.26200C= (p.Arg8734=) c.1687C= c.2062C= c.1929C= c.2194C= (n.2194C=) c.25129C= (p.Arg8377=) n.3092C= c.5120C= (n.5120C=) n.10036C= c.4223C= (n.4223C=) n.9928C= c.851-2780G= (n.851-2780G=) n.2958C= n.6981C= c.2809C= (p.Arg937=) c.26491C= (p.Arg8831=) c.26479C= (p.Arg8827=) c.26470C= (p.Arg8824=) c.26449C= (p.Arg8817=) c.26440C= (p.Arg8814=) c.26434C= (p.Arg8812=) c.26422C= (p.Arg8808=) c.26419C= (p.Arg8807=) c.26380C= (p.Arg8794=) c.26365C= (p.Arg8789=) c.26350C= (p.Arg8784=) c.26338C= (p.Arg8780=) c.26335C= (p.Arg8779=) c.26332C= (p.Arg8778=) c.*155C= (n.*155C=) c.26488C= (p.Arg8830=) c.26476C= (p.Arg8826=) c.26326C= (p.Arg8776=) c.24766C= (p.Arg8256=) c.24259C= (p.Arg8087=) c.19726C= (p.Arg6576=) c.26464C= (p.Arg8822=) c.26413C= (p.Arg8805=) c.26377C= (p.Arg8793=) c.26224C= (p.Arg8742=) | |
6 | g.152122486G>T | CA452969540 | ESR1,SYNE1 | c.2878C>A (p.Arg960=) c.26344C>A (p.Arg8782=) c.26200C>A (p.Arg8734=) c.1687C>A c.2062C>A c.1929C>A c.2194C>A (n.2194C>A) c.25129C>A (p.Arg8377=) n.3092C>A c.5120C>A (n.5120C>A) n.10036C>A c.4223C>A (n.4223C>A) n.9928C>A c.851-2780G>T (n.851-2780G>T) n.2958C>A n.6981C>A c.2809C>A (p.Arg937=) c.26491C>A (p.Arg8831=) c.26479C>A (p.Arg8827=) c.26470C>A (p.Arg8824=) c.26449C>A (p.Arg8817=) c.26440C>A (p.Arg8814=) c.26434C>A (p.Arg8812=) c.26422C>A (p.Arg8808=) c.26419C>A (p.Arg8807=) c.26380C>A (p.Arg8794=) c.26365C>A (p.Arg8789=) c.26350C>A (p.Arg8784=) c.26338C>A (p.Arg8780=) c.26335C>A (p.Arg8779=) c.26332C>A (p.Arg8778=) c.*155C>A (n.*155C>A) c.26488C>A (p.Arg8830=) c.26476C>A (p.Arg8826=) c.26326C>A (p.Arg8776=) c.24766C>A (p.Arg8256=) c.24259C>A (p.Arg8087=) c.19726C>A (p.Arg6576=) c.26464C>A (p.Arg8822=) c.26413C>A (p.Arg8805=) c.26377C>A (p.Arg8793=) c.26224C>A (p.Arg8742=) | |
6 | g.152122487G>A | CA452969542 | ESR1,SYNE1 | c.2877C>T (p.Ala959=) c.26343C>T (p.Ala8781=) c.26199C>T (p.Ala8733=) c.1686C>T c.2061C>T c.1928C>T c.2193C>T (n.2193C>T) c.25128C>T (p.Ala8376=) n.3091C>T c.5119C>T (n.5119C>T) n.10035C>T c.4222C>T (n.4222C>T) n.9927C>T c.851-2779G>A (n.851-2779G>A) n.2957C>T n.6980C>T c.2808C>T (p.Ala936=) c.26490C>T (p.Ala8830=) c.26478C>T (p.Ala8826=) c.26469C>T (p.Ala8823=) c.26448C>T (p.Ala8816=) c.26439C>T (p.Ala8813=) c.26433C>T (p.Ala8811=) c.26421C>T (p.Ala8807=) c.26418C>T (p.Ala8806=) c.26379C>T (p.Ala8793=) c.26364C>T (p.Ala8788=) c.26349C>T (p.Ala8783=) c.26337C>T (p.Ala8779=) c.26334C>T (p.Ala8778=) c.26331C>T (p.Ala8777=) c.*154C>T (n.*154C>T) c.26487C>T (p.Ala8829=) c.26475C>T (p.Ala8825=) c.26325C>T (p.Ala8775=) c.24765C>T (p.Ala8255=) c.24258C>T (p.Ala8086=) c.19725C>T (p.Ala6575=) c.26463C>T (p.Ala8821=) c.26412C>T (p.Ala8804=) c.26376C>T (p.Ala8792=) c.26223C>T (p.Ala8741=) | gnomAD v4 |
6 | g.152122487G>C | CA452969543 | ESR1,SYNE1 | c.2877C>G (p.Ala959=) c.26343C>G (p.Ala8781=) c.26199C>G (p.Ala8733=) c.1686C>G c.2061C>G c.1928C>G c.2193C>G (n.2193C>G) c.25128C>G (p.Ala8376=) n.3091C>G c.5119C>G (n.5119C>G) n.10035C>G c.4222C>G (n.4222C>G) n.9927C>G c.851-2779G>C (n.851-2779G>C) n.2957C>G n.6980C>G c.2808C>G (p.Ala936=) c.26490C>G (p.Ala8830=) c.26478C>G (p.Ala8826=) c.26469C>G (p.Ala8823=) c.26448C>G (p.Ala8816=) c.26439C>G (p.Ala8813=) c.26433C>G (p.Ala8811=) c.26421C>G (p.Ala8807=) c.26418C>G (p.Ala8806=) c.26379C>G (p.Ala8793=) c.26364C>G (p.Ala8788=) c.26349C>G (p.Ala8783=) c.26337C>G (p.Ala8779=) c.26334C>G (p.Ala8778=) c.26331C>G (p.Ala8777=) c.*154C>G (n.*154C>G) c.26487C>G (p.Ala8829=) c.26475C>G (p.Ala8825=) c.26325C>G (p.Ala8775=) c.24765C>G (p.Ala8255=) c.24258C>G (p.Ala8086=) c.19725C>G (p.Ala6575=) c.26463C>G (p.Ala8821=) c.26412C>G (p.Ala8804=) c.26376C>G (p.Ala8792=) c.26223C>G (p.Ala8741=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.152122487G= | CA1673188841 | ESR1,SYNE1 | c.2877C= (p.Ala959=) c.26343C= (p.Ala8781=) c.26199C= (p.Ala8733=) c.1686C= c.2061C= c.1928C= c.2193C= (n.2193C=) c.25128C= (p.Ala8376=) n.3091C= c.5119C= (n.5119C=) n.10035C= c.4222C= (n.4222C=) n.9927C= c.851-2779G= (n.851-2779G=) n.2957C= n.6980C= c.2808C= (p.Ala936=) c.26490C= (p.Ala8830=) c.26478C= (p.Ala8826=) c.26469C= (p.Ala8823=) c.26448C= (p.Ala8816=) c.26439C= (p.Ala8813=) c.26433C= (p.Ala8811=) c.26421C= (p.Ala8807=) c.26418C= (p.Ala8806=) c.26379C= (p.Ala8793=) c.26364C= (p.Ala8788=) c.26349C= (p.Ala8783=) c.26337C= (p.Ala8779=) c.26334C= (p.Ala8778=) c.26331C= (p.Ala8777=) c.*154C= (n.*154C=) c.26487C= (p.Ala8829=) c.26475C= (p.Ala8825=) c.26325C= (p.Ala8775=) c.24765C= (p.Ala8255=) c.24258C= (p.Ala8086=) c.19725C= (p.Ala6575=) c.26463C= (p.Ala8821=) c.26412C= (p.Ala8804=) c.26376C= (p.Ala8792=) c.26223C= (p.Ala8741=) | |
6 | g.152122487G>T | CA452969544 | ESR1,SYNE1 | c.2877C>A (p.Ala959=) c.26343C>A (p.Ala8781=) c.26199C>A (p.Ala8733=) c.1686C>A c.2061C>A c.1928C>A c.2193C>A (n.2193C>A) c.25128C>A (p.Ala8376=) n.3091C>A c.5119C>A (n.5119C>A) n.10035C>A c.4222C>A (n.4222C>A) n.9927C>A c.851-2779G>T (n.851-2779G>T) n.2957C>A n.6980C>A c.2808C>A (p.Ala936=) c.26490C>A (p.Ala8830=) c.26478C>A (p.Ala8826=) c.26469C>A (p.Ala8823=) c.26448C>A (p.Ala8816=) c.26439C>A (p.Ala8813=) c.26433C>A (p.Ala8811=) c.26421C>A (p.Ala8807=) c.26418C>A (p.Ala8806=) c.26379C>A (p.Ala8793=) c.26364C>A (p.Ala8788=) c.26349C>A (p.Ala8783=) c.26337C>A (p.Ala8779=) c.26334C>A (p.Ala8778=) c.26331C>A (p.Ala8777=) c.*154C>A (n.*154C>A) c.26487C>A (p.Ala8829=) c.26475C>A (p.Ala8825=) c.26325C>A (p.Ala8775=) c.24765C>A (p.Ala8255=) c.24258C>A (p.Ala8086=) c.19725C>A (p.Ala6575=) c.26463C>A (p.Ala8821=) c.26412C>A (p.Ala8804=) c.26376C>A (p.Ala8792=) c.26223C>A (p.Ala8741=) | |
6 | g.152122488G>A | CA366088577 | ESR1,SYNE1 | c.2876C>T (p.Ala959Val) c.26342C>T (p.Ala8781Val) c.26198C>T (p.Ala8733Val) c.1685C>T c.2060C>T c.1927C>T c.2192C>T (n.2192C>T) c.25127C>T (p.Ala8376Val) n.3090C>T c.5118C>T (n.5118C>T) n.10034C>T c.4221C>T (n.4221C>T) n.9926C>T c.851-2778G>A (n.851-2778G>A) n.2956C>T n.6979C>T c.2807C>T (p.Ala936Val) c.26489C>T (p.Ala8830Val) c.26477C>T (p.Ala8826Val) c.26468C>T (p.Ala8823Val) c.26447C>T (p.Ala8816Val) c.26438C>T (p.Ala8813Val) c.26432C>T (p.Ala8811Val) c.26420C>T (p.Ala8807Val) c.26417C>T (p.Ala8806Val) c.26378C>T (p.Ala8793Val) c.26363C>T (p.Ala8788Val) c.26348C>T (p.Ala8783Val) c.26336C>T (p.Ala8779Val) c.26333C>T (p.Ala8778Val) c.26330C>T (p.Ala8777Val) c.*153C>T (n.*153C>T) c.26486C>T (p.Ala8829Val) c.26474C>T (p.Ala8825Val) c.26324C>T (p.Ala8775Val) c.24764C>T (p.Ala8255Val) c.24257C>T (p.Ala8086Val) c.19724C>T (p.Ala6575Val) c.26462C>T (p.Ala8821Val) c.26411C>T (p.Ala8804Val) c.26375C>T (p.Ala8792Val) c.26222C>T (p.Ala8741Val) | |
6 | g.152122488G>C | CA366088578 | ESR1,SYNE1 | c.2876C>G (p.Ala959Gly) c.26342C>G (p.Ala8781Gly) c.26198C>G (p.Ala8733Gly) c.1685C>G c.2060C>G c.1927C>G c.2192C>G (n.2192C>G) c.25127C>G (p.Ala8376Gly) n.3090C>G c.5118C>G (n.5118C>G) n.10034C>G c.4221C>G (n.4221C>G) n.9926C>G c.851-2778G>C (n.851-2778G>C) n.2956C>G n.6979C>G c.2807C>G (p.Ala936Gly) c.26489C>G (p.Ala8830Gly) c.26477C>G (p.Ala8826Gly) c.26468C>G (p.Ala8823Gly) c.26447C>G (p.Ala8816Gly) c.26438C>G (p.Ala8813Gly) c.26432C>G (p.Ala8811Gly) c.26420C>G (p.Ala8807Gly) c.26417C>G (p.Ala8806Gly) c.26378C>G (p.Ala8793Gly) c.26363C>G (p.Ala8788Gly) c.26348C>G (p.Ala8783Gly) c.26336C>G (p.Ala8779Gly) c.26333C>G (p.Ala8778Gly) c.26330C>G (p.Ala8777Gly) c.*153C>G (n.*153C>G) c.26486C>G (p.Ala8829Gly) c.26474C>G (p.Ala8825Gly) c.26324C>G (p.Ala8775Gly) c.24764C>G (p.Ala8255Gly) c.24257C>G (p.Ala8086Gly) c.19724C>G (p.Ala6575Gly) c.26462C>G (p.Ala8821Gly) c.26411C>G (p.Ala8804Gly) c.26375C>G (p.Ala8792Gly) c.26222C>G (p.Ala8741Gly) | |
6 | g.152122488G>T | CA366088580 | ESR1,SYNE1 | c.2876C>A (p.Ala959Asp) c.26342C>A (p.Ala8781Asp) c.26198C>A (p.Ala8733Asp) c.1685C>A c.2060C>A c.1927C>A c.2192C>A (n.2192C>A) c.25127C>A (p.Ala8376Asp) n.3090C>A c.5118C>A (n.5118C>A) n.10034C>A c.4221C>A (n.4221C>A) n.9926C>A c.851-2778G>T (n.851-2778G>T) n.2956C>A n.6979C>A c.2807C>A (p.Ala936Asp) c.26489C>A (p.Ala8830Asp) c.26477C>A (p.Ala8826Asp) c.26468C>A (p.Ala8823Asp) c.26447C>A (p.Ala8816Asp) c.26438C>A (p.Ala8813Asp) c.26432C>A (p.Ala8811Asp) c.26420C>A (p.Ala8807Asp) c.26417C>A (p.Ala8806Asp) c.26378C>A (p.Ala8793Asp) c.26363C>A (p.Ala8788Asp) c.26348C>A (p.Ala8783Asp) c.26336C>A (p.Ala8779Asp) c.26333C>A (p.Ala8778Asp) c.26330C>A (p.Ala8777Asp) c.*153C>A (n.*153C>A) c.26486C>A (p.Ala8829Asp) c.26474C>A (p.Ala8825Asp) c.26324C>A (p.Ala8775Asp) c.24764C>A (p.Ala8255Asp) c.24257C>A (p.Ala8086Asp) c.19724C>A (p.Ala6575Asp) c.26462C>A (p.Ala8821Asp) c.26411C>A (p.Ala8804Asp) c.26375C>A (p.Ala8792Asp) c.26222C>A (p.Ala8741Asp) | |
6 | g.152122489C>A | CA366088582 | ESR1,SYNE1 | c.2875G>T (p.Ala959Ser) c.26341G>T (p.Ala8781Ser) c.26197G>T (p.Ala8733Ser) c.1684G>T c.2059G>T c.1926G>T c.2191G>T (n.2191G>T) c.25126G>T (p.Ala8376Ser) n.3089G>T c.5117G>T (n.5117G>T) n.10033G>T c.4220G>T (n.4220G>T) n.9925G>T c.851-2777C>A (n.851-2777C>A) n.2955G>T n.6978G>T c.2806G>T (p.Ala936Ser) c.26488G>T (p.Ala8830Ser) c.26476G>T (p.Ala8826Ser) c.26467G>T (p.Ala8823Ser) c.26446G>T (p.Ala8816Ser) c.26437G>T (p.Ala8813Ser) c.26431G>T (p.Ala8811Ser) c.26419G>T (p.Ala8807Ser) c.26416G>T (p.Ala8806Ser) c.26377G>T (p.Ala8793Ser) c.26362G>T (p.Ala8788Ser) c.26347G>T (p.Ala8783Ser) c.26335G>T (p.Ala8779Ser) c.26332G>T (p.Ala8778Ser) c.26329G>T (p.Ala8777Ser) c.*152G>T (n.*152G>T) c.26485G>T (p.Ala8829Ser) c.26473G>T (p.Ala8825Ser) c.26323G>T (p.Ala8775Ser) c.24763G>T (p.Ala8255Ser) c.24256G>T (p.Ala8086Ser) c.19723G>T (p.Ala6575Ser) c.26461G>T (p.Ala8821Ser) c.26410G>T (p.Ala8804Ser) c.26374G>T (p.Ala8792Ser) c.26221G>T (p.Ala8741Ser) | dbSNP |
6 | g.152122489C= | CA1673188847 | ESR1,SYNE1 | c.2875G= (p.Ala959=) c.26341G= (p.Ala8781=) c.26197G= (p.Ala8733=) c.1684G= c.2059G= c.1926G= c.2191G= (n.2191G=) c.25126G= (p.Ala8376=) n.3089G= c.5117G= (n.5117G=) n.10033G= c.4220G= (n.4220G=) n.9925G= c.851-2777C= (n.851-2777C=) n.2955G= n.6978G= c.2806G= (p.Ala936=) c.26488G= (p.Ala8830=) c.26476G= (p.Ala8826=) c.26467G= (p.Ala8823=) c.26446G= (p.Ala8816=) c.26437G= (p.Ala8813=) c.26431G= (p.Ala8811=) c.26419G= (p.Ala8807=) c.26416G= (p.Ala8806=) c.26377G= (p.Ala8793=) c.26362G= (p.Ala8788=) c.26347G= (p.Ala8783=) c.26335G= (p.Ala8779=) c.26332G= (p.Ala8778=) c.26329G= (p.Ala8777=) c.*152G= (n.*152G=) c.26485G= (p.Ala8829=) c.26473G= (p.Ala8825=) c.26323G= (p.Ala8775=) c.24763G= (p.Ala8255=) c.24256G= (p.Ala8086=) c.19723G= (p.Ala6575=) c.26461G= (p.Ala8821=) c.26410G= (p.Ala8804=) c.26374G= (p.Ala8792=) c.26221G= (p.Ala8741=) | |
6 | g.152122489C>G | CA366088584 | ESR1,SYNE1 | c.2875G>C (p.Ala959Pro) c.26341G>C (p.Ala8781Pro) c.26197G>C (p.Ala8733Pro) c.1684G>C c.2059G>C c.1926G>C c.2191G>C (n.2191G>C) c.25126G>C (p.Ala8376Pro) n.3089G>C c.5117G>C (n.5117G>C) n.10033G>C c.4220G>C (n.4220G>C) n.9925G>C c.851-2777C>G (n.851-2777C>G) n.2955G>C n.6978G>C c.2806G>C (p.Ala936Pro) c.26488G>C (p.Ala8830Pro) c.26476G>C (p.Ala8826Pro) c.26467G>C (p.Ala8823Pro) c.26446G>C (p.Ala8816Pro) c.26437G>C (p.Ala8813Pro) c.26431G>C (p.Ala8811Pro) c.26419G>C (p.Ala8807Pro) c.26416G>C (p.Ala8806Pro) c.26377G>C (p.Ala8793Pro) c.26362G>C (p.Ala8788Pro) c.26347G>C (p.Ala8783Pro) c.26335G>C (p.Ala8779Pro) c.26332G>C (p.Ala8778Pro) c.26329G>C (p.Ala8777Pro) c.*152G>C (n.*152G>C) c.26485G>C (p.Ala8829Pro) c.26473G>C (p.Ala8825Pro) c.26323G>C (p.Ala8775Pro) c.24763G>C (p.Ala8255Pro) c.24256G>C (p.Ala8086Pro) c.19723G>C (p.Ala6575Pro) c.26461G>C (p.Ala8821Pro) c.26410G>C (p.Ala8804Pro) c.26374G>C (p.Ala8792Pro) c.26221G>C (p.Ala8741Pro) | |
6 | g.152122489C>T | CA366088586 | ESR1,SYNE1 | c.2875G>A (p.Ala959Thr) c.26341G>A (p.Ala8781Thr) c.26197G>A (p.Ala8733Thr) c.1684G>A c.2059G>A c.1926G>A c.2191G>A (n.2191G>A) c.25126G>A (p.Ala8376Thr) n.3089G>A c.5117G>A (n.5117G>A) n.10033G>A c.4220G>A (n.4220G>A) n.9925G>A c.851-2777C>T (n.851-2777C>T) n.2955G>A n.6978G>A c.2806G>A (p.Ala936Thr) c.26488G>A (p.Ala8830Thr) c.26476G>A (p.Ala8826Thr) c.26467G>A (p.Ala8823Thr) c.26446G>A (p.Ala8816Thr) c.26437G>A (p.Ala8813Thr) c.26431G>A (p.Ala8811Thr) c.26419G>A (p.Ala8807Thr) c.26416G>A (p.Ala8806Thr) c.26377G>A (p.Ala8793Thr) c.26362G>A (p.Ala8788Thr) c.26347G>A (p.Ala8783Thr) c.26335G>A (p.Ala8779Thr) c.26332G>A (p.Ala8778Thr) c.26329G>A (p.Ala8777Thr) c.*152G>A (n.*152G>A) c.26485G>A (p.Ala8829Thr) c.26473G>A (p.Ala8825Thr) c.26323G>A (p.Ala8775Thr) c.24763G>A (p.Ala8255Thr) c.24256G>A (p.Ala8086Thr) c.19723G>A (p.Ala6575Thr) c.26461G>A (p.Ala8821Thr) c.26410G>A (p.Ala8804Thr) c.26374G>A (p.Ala8792Thr) c.26221G>A (p.Ala8741Thr) | dbSNP |
6 | g.152122490A= | CA1673188852 | ESR1,SYNE1 | c.2874T= (p.Phe958=) c.26340T= (p.Phe8780=) c.26196T= (p.Phe8732=) c.1683T= c.2058T= c.1925T= c.2190T= (n.2190T=) c.25125T= (p.Phe8375=) n.3088T= c.5116T= (n.5116T=) n.10032T= c.4219T= (n.4219T=) n.9924T= c.851-2776A= (n.851-2776A=) n.2954T= n.6977T= c.2805T= (p.Phe935=) c.26487T= (p.Phe8829=) c.26475T= (p.Phe8825=) c.26466T= (p.Phe8822=) c.26445T= (p.Phe8815=) c.26436T= (p.Phe8812=) c.26430T= (p.Phe8810=) c.26418T= (p.Phe8806=) c.26415T= (p.Phe8805=) c.26376T= (p.Phe8792=) c.26361T= (p.Phe8787=) c.26346T= (p.Phe8782=) c.26334T= (p.Phe8778=) c.26331T= (p.Phe8777=) c.26328T= (p.Phe8776=) c.*151T= (n.*151T=) c.26484T= (p.Phe8828=) c.26472T= (p.Phe8824=) c.26322T= (p.Phe8774=) c.24762T= (p.Phe8254=) c.24255T= (p.Phe8085=) c.19722T= (p.Phe6574=) c.26460T= (p.Phe8820=) c.26409T= (p.Phe8803=) c.26373T= (p.Phe8791=) c.26220T= (p.Phe8740=) | |
6 | g.152122490A>C | CA366088588 | ESR1,SYNE1 | c.2874T>G (p.Phe958Leu) c.26340T>G (p.Phe8780Leu) c.26196T>G (p.Phe8732Leu) c.1683T>G c.2058T>G c.1925T>G c.2190T>G (n.2190T>G) c.25125T>G (p.Phe8375Leu) n.3088T>G c.5116T>G (n.5116T>G) n.10032T>G c.4219T>G (n.4219T>G) n.9924T>G c.851-2776A>C (n.851-2776A>C) n.2954T>G n.6977T>G c.2805T>G (p.Phe935Leu) c.26487T>G (p.Phe8829Leu) c.26475T>G (p.Phe8825Leu) c.26466T>G (p.Phe8822Leu) c.26445T>G (p.Phe8815Leu) c.26436T>G (p.Phe8812Leu) c.26430T>G (p.Phe8810Leu) c.26418T>G (p.Phe8806Leu) c.26415T>G (p.Phe8805Leu) c.26376T>G (p.Phe8792Leu) c.26361T>G (p.Phe8787Leu) c.26346T>G (p.Phe8782Leu) c.26334T>G (p.Phe8778Leu) c.26331T>G (p.Phe8777Leu) c.26328T>G (p.Phe8776Leu) c.*151T>G (n.*151T>G) c.26484T>G (p.Phe8828Leu) c.26472T>G (p.Phe8824Leu) c.26322T>G (p.Phe8774Leu) c.24762T>G (p.Phe8254Leu) c.24255T>G (p.Phe8085Leu) c.19722T>G (p.Phe6574Leu) c.26460T>G (p.Phe8820Leu) c.26409T>G (p.Phe8803Leu) c.26373T>G (p.Phe8791Leu) c.26220T>G (p.Phe8740Leu) | |
6 | g.152122490A>G | CA452969549 | ESR1,SYNE1 | c.2874T>C (p.Phe958=) c.26340T>C (p.Phe8780=) c.26196T>C (p.Phe8732=) c.1683T>C c.2058T>C c.1925T>C c.2190T>C (n.2190T>C) c.25125T>C (p.Phe8375=) n.3088T>C c.5116T>C (n.5116T>C) n.10032T>C c.4219T>C (n.4219T>C) n.9924T>C c.851-2776A>G (n.851-2776A>G) n.2954T>C n.6977T>C c.2805T>C (p.Phe935=) c.26487T>C (p.Phe8829=) c.26475T>C (p.Phe8825=) c.26466T>C (p.Phe8822=) c.26445T>C (p.Phe8815=) c.26436T>C (p.Phe8812=) c.26430T>C (p.Phe8810=) c.26418T>C (p.Phe8806=) c.26415T>C (p.Phe8805=) c.26376T>C (p.Phe8792=) c.26361T>C (p.Phe8787=) c.26346T>C (p.Phe8782=) c.26334T>C (p.Phe8778=) c.26331T>C (p.Phe8777=) c.26328T>C (p.Phe8776=) c.*151T>C (n.*151T>C) c.26484T>C (p.Phe8828=) c.26472T>C (p.Phe8824=) c.26322T>C (p.Phe8774=) c.24762T>C (p.Phe8254=) c.24255T>C (p.Phe8085=) c.19722T>C (p.Phe6574=) c.26460T>C (p.Phe8820=) c.26409T>C (p.Phe8803=) c.26373T>C (p.Phe8791=) c.26220T>C (p.Phe8740=) | dbSNP |
6 | g.152122490A>T | CA366088590 | ESR1,SYNE1 | c.2874T>A (p.Phe958Leu) c.26340T>A (p.Phe8780Leu) c.26196T>A (p.Phe8732Leu) c.1683T>A c.2058T>A c.1925T>A c.2190T>A (n.2190T>A) c.25125T>A (p.Phe8375Leu) n.3088T>A c.5116T>A (n.5116T>A) n.10032T>A c.4219T>A (n.4219T>A) n.9924T>A c.851-2776A>T (n.851-2776A>T) n.2954T>A n.6977T>A c.2805T>A (p.Phe935Leu) c.26487T>A (p.Phe8829Leu) c.26475T>A (p.Phe8825Leu) c.26466T>A (p.Phe8822Leu) c.26445T>A (p.Phe8815Leu) c.26436T>A (p.Phe8812Leu) c.26430T>A (p.Phe8810Leu) c.26418T>A (p.Phe8806Leu) c.26415T>A (p.Phe8805Leu) c.26376T>A (p.Phe8792Leu) c.26361T>A (p.Phe8787Leu) c.26346T>A (p.Phe8782Leu) c.26334T>A (p.Phe8778Leu) c.26331T>A (p.Phe8777Leu) c.26328T>A (p.Phe8776Leu) c.*151T>A (n.*151T>A) c.26484T>A (p.Phe8828Leu) c.26472T>A (p.Phe8824Leu) c.26322T>A (p.Phe8774Leu) c.24762T>A (p.Phe8254Leu) c.24255T>A (p.Phe8085Leu) c.19722T>A (p.Phe6574Leu) c.26460T>A (p.Phe8820Leu) c.26409T>A (p.Phe8803Leu) c.26373T>A (p.Phe8791Leu) c.26220T>A (p.Phe8740Leu) | |
6 | g.152122491A>C | CA366088592 | ESR1,SYNE1 | c.2873T>G (p.Phe958Cys) c.26339T>G (p.Phe8780Cys) c.26195T>G (p.Phe8732Cys) c.1682T>G c.2057T>G c.1924T>G c.2189T>G (n.2189T>G) c.25124T>G (p.Phe8375Cys) n.3087T>G c.5115T>G (n.5115T>G) n.10031T>G c.4218T>G (n.4218T>G) n.9923T>G c.851-2775A>C (n.851-2775A>C) n.2953T>G n.6976T>G c.2804T>G (p.Phe935Cys) c.26486T>G (p.Phe8829Cys) c.26474T>G (p.Phe8825Cys) c.26465T>G (p.Phe8822Cys) c.26444T>G (p.Phe8815Cys) c.26435T>G (p.Phe8812Cys) c.26429T>G (p.Phe8810Cys) c.26417T>G (p.Phe8806Cys) c.26414T>G (p.Phe8805Cys) c.26375T>G (p.Phe8792Cys) c.26360T>G (p.Phe8787Cys) c.26345T>G (p.Phe8782Cys) c.26333T>G (p.Phe8778Cys) c.26330T>G (p.Phe8777Cys) c.26327T>G (p.Phe8776Cys) c.*150T>G (n.*150T>G) c.26483T>G (p.Phe8828Cys) c.26471T>G (p.Phe8824Cys) c.26321T>G (p.Phe8774Cys) c.24761T>G (p.Phe8254Cys) c.24254T>G (p.Phe8085Cys) c.19721T>G (p.Phe6574Cys) c.26459T>G (p.Phe8820Cys) c.26408T>G (p.Phe8803Cys) c.26372T>G (p.Phe8791Cys) c.26219T>G (p.Phe8740Cys) | |
6 | g.152122491A>G | CA366088594 | ESR1,SYNE1 | c.2873T>C (p.Phe958Ser) c.26339T>C (p.Phe8780Ser) c.26195T>C (p.Phe8732Ser) c.1682T>C c.2057T>C c.1924T>C c.2189T>C (n.2189T>C) c.25124T>C (p.Phe8375Ser) n.3087T>C c.5115T>C (n.5115T>C) n.10031T>C c.4218T>C (n.4218T>C) n.9923T>C c.851-2775A>G (n.851-2775A>G) n.2953T>C n.6976T>C c.2804T>C (p.Phe935Ser) c.26486T>C (p.Phe8829Ser) c.26474T>C (p.Phe8825Ser) c.26465T>C (p.Phe8822Ser) c.26444T>C (p.Phe8815Ser) c.26435T>C (p.Phe8812Ser) c.26429T>C (p.Phe8810Ser) c.26417T>C (p.Phe8806Ser) c.26414T>C (p.Phe8805Ser) c.26375T>C (p.Phe8792Ser) c.26360T>C (p.Phe8787Ser) c.26345T>C (p.Phe8782Ser) c.26333T>C (p.Phe8778Ser) c.26330T>C (p.Phe8777Ser) c.26327T>C (p.Phe8776Ser) c.*150T>C (n.*150T>C) c.26483T>C (p.Phe8828Ser) c.26471T>C (p.Phe8824Ser) c.26321T>C (p.Phe8774Ser) c.24761T>C (p.Phe8254Ser) c.24254T>C (p.Phe8085Ser) c.19721T>C (p.Phe6574Ser) c.26459T>C (p.Phe8820Ser) c.26408T>C (p.Phe8803Ser) c.26372T>C (p.Phe8791Ser) c.26219T>C (p.Phe8740Ser) | |
6 | g.152122491A>T | CA366088595 | ESR1,SYNE1 | c.2873T>A (p.Phe958Tyr) c.26339T>A (p.Phe8780Tyr) c.26195T>A (p.Phe8732Tyr) c.1682T>A c.2057T>A c.1924T>A c.2189T>A (n.2189T>A) c.25124T>A (p.Phe8375Tyr) n.3087T>A c.5115T>A (n.5115T>A) n.10031T>A c.4218T>A (n.4218T>A) n.9923T>A c.851-2775A>T (n.851-2775A>T) n.2953T>A n.6976T>A c.2804T>A (p.Phe935Tyr) c.26486T>A (p.Phe8829Tyr) c.26474T>A (p.Phe8825Tyr) c.26465T>A (p.Phe8822Tyr) c.26444T>A (p.Phe8815Tyr) c.26435T>A (p.Phe8812Tyr) c.26429T>A (p.Phe8810Tyr) c.26417T>A (p.Phe8806Tyr) c.26414T>A (p.Phe8805Tyr) c.26375T>A (p.Phe8792Tyr) c.26360T>A (p.Phe8787Tyr) c.26345T>A (p.Phe8782Tyr) c.26333T>A (p.Phe8778Tyr) c.26330T>A (p.Phe8777Tyr) c.26327T>A (p.Phe8776Tyr) c.*150T>A (n.*150T>A) c.26483T>A (p.Phe8828Tyr) c.26471T>A (p.Phe8824Tyr) c.26321T>A (p.Phe8774Tyr) c.24761T>A (p.Phe8254Tyr) c.24254T>A (p.Phe8085Tyr) c.19721T>A (p.Phe6574Tyr) c.26459T>A (p.Phe8820Tyr) c.26408T>A (p.Phe8803Tyr) c.26372T>A (p.Phe8791Tyr) c.26219T>A (p.Phe8740Tyr) | |
6 | g.152122492A>C | CA366088608 | ESR1,SYNE1 | c.2872T>G (p.Phe958Val) c.26338T>G (p.Phe8780Val) c.26194T>G (p.Phe8732Val) c.1681T>G c.2056T>G c.1923T>G c.2188T>G (n.2188T>G) c.25123T>G (p.Phe8375Val) n.3086T>G c.5114T>G (n.5114T>G) n.10030T>G c.4217T>G (n.4217T>G) n.9922T>G c.851-2774A>C (n.851-2774A>C) n.2952T>G n.6975T>G c.2803T>G (p.Phe935Val) c.26485T>G (p.Phe8829Val) c.26473T>G (p.Phe8825Val) c.26464T>G (p.Phe8822Val) c.26443T>G (p.Phe8815Val) c.26434T>G (p.Phe8812Val) c.26428T>G (p.Phe8810Val) c.26416T>G (p.Phe8806Val) c.26413T>G (p.Phe8805Val) c.26374T>G (p.Phe8792Val) c.26359T>G (p.Phe8787Val) c.26344T>G (p.Phe8782Val) c.26332T>G (p.Phe8778Val) c.26329T>G (p.Phe8777Val) c.26326T>G (p.Phe8776Val) c.*149T>G (n.*149T>G) c.26482T>G (p.Phe8828Val) c.26470T>G (p.Phe8824Val) c.26320T>G (p.Phe8774Val) c.24760T>G (p.Phe8254Val) c.24253T>G (p.Phe8085Val) c.19720T>G (p.Phe6574Val) c.26458T>G (p.Phe8820Val) c.26407T>G (p.Phe8803Val) c.26371T>G (p.Phe8791Val) c.26218T>G (p.Phe8740Val) | |
6 | g.152122492A>G | CA366088606 | ESR1,SYNE1 | c.2872T>C (p.Phe958Leu) c.26338T>C (p.Phe8780Leu) c.26194T>C (p.Phe8732Leu) c.1681T>C c.2056T>C c.1923T>C c.2188T>C (n.2188T>C) c.25123T>C (p.Phe8375Leu) n.3086T>C c.5114T>C (n.5114T>C) n.10030T>C c.4217T>C (n.4217T>C) n.9922T>C c.851-2774A>G (n.851-2774A>G) n.2952T>C n.6975T>C c.2803T>C (p.Phe935Leu) c.26485T>C (p.Phe8829Leu) c.26473T>C (p.Phe8825Leu) c.26464T>C (p.Phe8822Leu) c.26443T>C (p.Phe8815Leu) c.26434T>C (p.Phe8812Leu) c.26428T>C (p.Phe8810Leu) c.26416T>C (p.Phe8806Leu) c.26413T>C (p.Phe8805Leu) c.26374T>C (p.Phe8792Leu) c.26359T>C (p.Phe8787Leu) c.26344T>C (p.Phe8782Leu) c.26332T>C (p.Phe8778Leu) c.26329T>C (p.Phe8777Leu) c.26326T>C (p.Phe8776Leu) c.*149T>C (n.*149T>C) c.26482T>C (p.Phe8828Leu) c.26470T>C (p.Phe8824Leu) c.26320T>C (p.Phe8774Leu) c.24760T>C (p.Phe8254Leu) c.24253T>C (p.Phe8085Leu) c.19720T>C (p.Phe6574Leu) c.26458T>C (p.Phe8820Leu) c.26407T>C (p.Phe8803Leu) c.26371T>C (p.Phe8791Leu) c.26218T>C (p.Phe8740Leu) | |
6 | g.152122492A>T | CA366088600 | ESR1,SYNE1 | c.2872T>A (p.Phe958Ile) c.26338T>A (p.Phe8780Ile) c.26194T>A (p.Phe8732Ile) c.1681T>A c.2056T>A c.1923T>A c.2188T>A (n.2188T>A) c.25123T>A (p.Phe8375Ile) n.3086T>A c.5114T>A (n.5114T>A) n.10030T>A c.4217T>A (n.4217T>A) n.9922T>A c.851-2774A>T (n.851-2774A>T) n.2952T>A n.6975T>A c.2803T>A (p.Phe935Ile) c.26485T>A (p.Phe8829Ile) c.26473T>A (p.Phe8825Ile) c.26464T>A (p.Phe8822Ile) c.26443T>A (p.Phe8815Ile) c.26434T>A (p.Phe8812Ile) c.26428T>A (p.Phe8810Ile) c.26416T>A (p.Phe8806Ile) c.26413T>A (p.Phe8805Ile) c.26374T>A (p.Phe8792Ile) c.26359T>A (p.Phe8787Ile) c.26344T>A (p.Phe8782Ile) c.26332T>A (p.Phe8778Ile) c.26329T>A (p.Phe8777Ile) c.26326T>A (p.Phe8776Ile) c.*149T>A (n.*149T>A) c.26482T>A (p.Phe8828Ile) c.26470T>A (p.Phe8824Ile) c.26320T>A (p.Phe8774Ile) c.24760T>A (p.Phe8254Ile) c.24253T>A (p.Phe8085Ile) c.19720T>A (p.Phe6574Ile) c.26458T>A (p.Phe8820Ile) c.26407T>A (p.Phe8803Ile) c.26371T>A (p.Phe8791Ile) c.26218T>A (p.Phe8740Ile) | |
6 | g.152122493G>A | CA452969554 | ESR1,SYNE1 | c.2871C>T (p.Asn957=) c.26337C>T (p.Asn8779=) c.26193C>T (p.Asn8731=) c.1680C>T c.2055C>T c.1922C>T c.2187C>T (n.2187C>T) c.25122C>T (p.Asn8374=) n.3085C>T c.5113C>T (n.5113C>T) n.10029C>T c.4216C>T (n.4216C>T) n.9921C>T c.851-2773G>A (n.851-2773G>A) n.2951C>T n.6974C>T c.2802C>T (p.Asn934=) c.26484C>T (p.Asn8828=) c.26472C>T (p.Asn8824=) c.26463C>T (p.Asn8821=) c.26442C>T (p.Asn8814=) c.26433C>T (p.Asn8811=) c.26427C>T (p.Asn8809=) c.26415C>T (p.Asn8805=) c.26412C>T (p.Asn8804=) c.26373C>T (p.Asn8791=) c.26358C>T (p.Asn8786=) c.26343C>T (p.Asn8781=) c.26331C>T (p.Asn8777=) c.26328C>T (p.Asn8776=) c.26325C>T (p.Asn8775=) c.*148C>T (n.*148C>T) c.26481C>T (p.Asn8827=) c.26469C>T (p.Asn8823=) c.26319C>T (p.Asn8773=) c.24759C>T (p.Asn8253=) c.24252C>T (p.Asn8084=) c.19719C>T (p.Asn6573=) c.26457C>T (p.Asn8819=) c.26406C>T (p.Asn8802=) c.26370C>T (p.Asn8790=) c.26217C>T (p.Asn8739=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.152122493G>C | CA366088610 | ESR1,SYNE1 | c.2871C>G (p.Asn957Lys) c.26337C>G (p.Asn8779Lys) c.26193C>G (p.Asn8731Lys) c.1680C>G c.2055C>G c.1922C>G c.2187C>G (n.2187C>G) c.25122C>G (p.Asn8374Lys) n.3085C>G c.5113C>G (n.5113C>G) n.10029C>G c.4216C>G (n.4216C>G) n.9921C>G c.851-2773G>C (n.851-2773G>C) n.2951C>G n.6974C>G c.2802C>G (p.Asn934Lys) c.26484C>G (p.Asn8828Lys) c.26472C>G (p.Asn8824Lys) c.26463C>G (p.Asn8821Lys) c.26442C>G (p.Asn8814Lys) c.26433C>G (p.Asn8811Lys) c.26427C>G (p.Asn8809Lys) c.26415C>G (p.Asn8805Lys) c.26412C>G (p.Asn8804Lys) c.26373C>G (p.Asn8791Lys) c.26358C>G (p.Asn8786Lys) c.26343C>G (p.Asn8781Lys) c.26331C>G (p.Asn8777Lys) c.26328C>G (p.Asn8776Lys) c.26325C>G (p.Asn8775Lys) c.*148C>G (n.*148C>G) c.26481C>G (p.Asn8827Lys) c.26469C>G (p.Asn8823Lys) c.26319C>G (p.Asn8773Lys) c.24759C>G (p.Asn8253Lys) c.24252C>G (p.Asn8084Lys) c.19719C>G (p.Asn6573Lys) c.26457C>G (p.Asn8819Lys) c.26406C>G (p.Asn8802Lys) c.26370C>G (p.Asn8790Lys) c.26217C>G (p.Asn8739Lys) | |
6 | g.152122493G= | CA1673188858 | ESR1,SYNE1 | c.2871C= (p.Asn957=) c.26337C= (p.Asn8779=) c.26193C= (p.Asn8731=) c.1680C= c.2055C= c.1922C= c.2187C= (n.2187C=) c.25122C= (p.Asn8374=) n.3085C= c.5113C= (n.5113C=) n.10029C= c.4216C= (n.4216C=) n.9921C= c.851-2773G= (n.851-2773G=) n.2951C= n.6974C= c.2802C= (p.Asn934=) c.26484C= (p.Asn8828=) c.26472C= (p.Asn8824=) c.26463C= (p.Asn8821=) c.26442C= (p.Asn8814=) c.26433C= (p.Asn8811=) c.26427C= (p.Asn8809=) c.26415C= (p.Asn8805=) c.26412C= (p.Asn8804=) c.26373C= (p.Asn8791=) c.26358C= (p.Asn8786=) c.26343C= (p.Asn8781=) c.26331C= (p.Asn8777=) c.26328C= (p.Asn8776=) c.26325C= (p.Asn8775=) c.*148C= (n.*148C=) c.26481C= (p.Asn8827=) c.26469C= (p.Asn8823=) c.26319C= (p.Asn8773=) c.24759C= (p.Asn8253=) c.24252C= (p.Asn8084=) c.19719C= (p.Asn6573=) c.26457C= (p.Asn8819=) c.26406C= (p.Asn8802=) c.26370C= (p.Asn8790=) c.26217C= (p.Asn8739=) | |
6 | g.152122493G>T | CA4052584 | ESR1,SYNE1 | c.2871C>A (p.Asn957Lys) c.26337C>A (p.Asn8779Lys) c.26193C>A (p.Asn8731Lys) c.1680C>A c.2055C>A c.1922C>A c.2187C>A (n.2187C>A) c.25122C>A (p.Asn8374Lys) n.3085C>A c.5113C>A (n.5113C>A) n.10029C>A c.4216C>A (n.4216C>A) n.9921C>A c.851-2773G>T (n.851-2773G>T) n.2951C>A n.6974C>A c.2802C>A (p.Asn934Lys) c.26484C>A (p.Asn8828Lys) c.26472C>A (p.Asn8824Lys) c.26463C>A (p.Asn8821Lys) c.26442C>A (p.Asn8814Lys) c.26433C>A (p.Asn8811Lys) c.26427C>A (p.Asn8809Lys) c.26415C>A (p.Asn8805Lys) c.26412C>A (p.Asn8804Lys) c.26373C>A (p.Asn8791Lys) c.26358C>A (p.Asn8786Lys) c.26343C>A (p.Asn8781Lys) c.26331C>A (p.Asn8777Lys) c.26328C>A (p.Asn8776Lys) c.26325C>A (p.Asn8775Lys) c.*148C>A (n.*148C>A) c.26481C>A (p.Asn8827Lys) c.26469C>A (p.Asn8823Lys) c.26319C>A (p.Asn8773Lys) c.24759C>A (p.Asn8253Lys) c.24252C>A (p.Asn8084Lys) c.19719C>A (p.Asn6573Lys) c.26457C>A (p.Asn8819Lys) c.26406C>A (p.Asn8802Lys) c.26370C>A (p.Asn8790Lys) c.26217C>A (p.Asn8739Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122494T>A | CA366088615 | ESR1,SYNE1 | c.2870A>T (p.Asn957Ile) c.26336A>T (p.Asn8779Ile) c.26192A>T (p.Asn8731Ile) c.1679A>T c.2054A>T c.1921A>T c.2186A>T (n.2186A>T) c.25121A>T (p.Asn8374Ile) n.3084A>T c.5112A>T (n.5112A>T) n.10028A>T c.4215A>T (n.4215A>T) n.9920A>T c.851-2772T>A (n.851-2772T>A) n.2950A>T n.6973A>T c.2801A>T (p.Asn934Ile) c.26483A>T (p.Asn8828Ile) c.26471A>T (p.Asn8824Ile) c.26462A>T (p.Asn8821Ile) c.26441A>T (p.Asn8814Ile) c.26432A>T (p.Asn8811Ile) c.26426A>T (p.Asn8809Ile) c.26414A>T (p.Asn8805Ile) c.26411A>T (p.Asn8804Ile) c.26372A>T (p.Asn8791Ile) c.26357A>T (p.Asn8786Ile) c.26342A>T (p.Asn8781Ile) c.26330A>T (p.Asn8777Ile) c.26327A>T (p.Asn8776Ile) c.26324A>T (p.Asn8775Ile) c.*147A>T (n.*147A>T) c.26480A>T (p.Asn8827Ile) c.26468A>T (p.Asn8823Ile) c.26318A>T (p.Asn8773Ile) c.24758A>T (p.Asn8253Ile) c.24251A>T (p.Asn8084Ile) c.19718A>T (p.Asn6573Ile) c.26456A>T (p.Asn8819Ile) c.26405A>T (p.Asn8802Ile) c.26369A>T (p.Asn8790Ile) c.26216A>T (p.Asn8739Ile) | |
6 | g.152122494T>C | CA366088616 | ESR1,SYNE1 | c.2870A>G (p.Asn957Ser) c.26336A>G (p.Asn8779Ser) c.26192A>G (p.Asn8731Ser) c.1679A>G c.2054A>G c.1921A>G c.2186A>G (n.2186A>G) c.25121A>G (p.Asn8374Ser) n.3084A>G c.5112A>G (n.5112A>G) n.10028A>G c.4215A>G (n.4215A>G) n.9920A>G c.851-2772T>C (n.851-2772T>C) n.2950A>G n.6973A>G c.2801A>G (p.Asn934Ser) c.26483A>G (p.Asn8828Ser) c.26471A>G (p.Asn8824Ser) c.26462A>G (p.Asn8821Ser) c.26441A>G (p.Asn8814Ser) c.26432A>G (p.Asn8811Ser) c.26426A>G (p.Asn8809Ser) c.26414A>G (p.Asn8805Ser) c.26411A>G (p.Asn8804Ser) c.26372A>G (p.Asn8791Ser) c.26357A>G (p.Asn8786Ser) c.26342A>G (p.Asn8781Ser) c.26330A>G (p.Asn8777Ser) c.26327A>G (p.Asn8776Ser) c.26324A>G (p.Asn8775Ser) c.*147A>G (n.*147A>G) c.26480A>G (p.Asn8827Ser) c.26468A>G (p.Asn8823Ser) c.26318A>G (p.Asn8773Ser) c.24758A>G (p.Asn8253Ser) c.24251A>G (p.Asn8084Ser) c.19718A>G (p.Asn6573Ser) c.26456A>G (p.Asn8819Ser) c.26405A>G (p.Asn8802Ser) c.26369A>G (p.Asn8790Ser) c.26216A>G (p.Asn8739Ser) | dbSNP gnomAD v4 |
6 | g.152122494T>G | CA366088617 | ESR1,SYNE1 | c.2870A>C (p.Asn957Thr) c.26336A>C (p.Asn8779Thr) c.26192A>C (p.Asn8731Thr) c.1679A>C c.2054A>C c.1921A>C c.2186A>C (n.2186A>C) c.25121A>C (p.Asn8374Thr) n.3084A>C c.5112A>C (n.5112A>C) n.10028A>C c.4215A>C (n.4215A>C) n.9920A>C c.851-2772T>G (n.851-2772T>G) n.2950A>C n.6973A>C c.2801A>C (p.Asn934Thr) c.26483A>C (p.Asn8828Thr) c.26471A>C (p.Asn8824Thr) c.26462A>C (p.Asn8821Thr) c.26441A>C (p.Asn8814Thr) c.26432A>C (p.Asn8811Thr) c.26426A>C (p.Asn8809Thr) c.26414A>C (p.Asn8805Thr) c.26411A>C (p.Asn8804Thr) c.26372A>C (p.Asn8791Thr) c.26357A>C (p.Asn8786Thr) c.26342A>C (p.Asn8781Thr) c.26330A>C (p.Asn8777Thr) c.26327A>C (p.Asn8776Thr) c.26324A>C (p.Asn8775Thr) c.*147A>C (n.*147A>C) c.26480A>C (p.Asn8827Thr) c.26468A>C (p.Asn8823Thr) c.26318A>C (p.Asn8773Thr) c.24758A>C (p.Asn8253Thr) c.24251A>C (p.Asn8084Thr) c.19718A>C (p.Asn6573Thr) c.26456A>C (p.Asn8819Thr) c.26405A>C (p.Asn8802Thr) c.26369A>C (p.Asn8790Thr) c.26216A>C (p.Asn8739Thr) | |
6 | g.152122494T= | CA1673188863 | ESR1,SYNE1 | c.2870A= (p.Asn957=) c.26336A= (p.Asn8779=) c.26192A= (p.Asn8731=) c.1679A= c.2054A= c.1921A= c.2186A= (n.2186A=) c.25121A= (p.Asn8374=) n.3084A= c.5112A= (n.5112A=) n.10028A= c.4215A= (n.4215A=) n.9920A= c.851-2772T= (n.851-2772T=) n.2950A= n.6973A= c.2801A= (p.Asn934=) c.26483A= (p.Asn8828=) c.26471A= (p.Asn8824=) c.26462A= (p.Asn8821=) c.26441A= (p.Asn8814=) c.26432A= (p.Asn8811=) c.26426A= (p.Asn8809=) c.26414A= (p.Asn8805=) c.26411A= (p.Asn8804=) c.26372A= (p.Asn8791=) c.26357A= (p.Asn8786=) c.26342A= (p.Asn8781=) c.26330A= (p.Asn8777=) c.26327A= (p.Asn8776=) c.26324A= (p.Asn8775=) c.*147A= (n.*147A=) c.26480A= (p.Asn8827=) c.26468A= (p.Asn8823=) c.26318A= (p.Asn8773=) c.24758A= (p.Asn8253=) c.24251A= (p.Asn8084=) c.19718A= (p.Asn6573=) c.26456A= (p.Asn8819=) c.26405A= (p.Asn8802=) c.26369A= (p.Asn8790=) c.26216A= (p.Asn8739=) | |
6 | g.152122495T>A | CA366088619 | ESR1,SYNE1 | c.2869A>T (p.Asn957Tyr) c.26335A>T (p.Asn8779Tyr) c.26191A>T (p.Asn8731Tyr) c.1678A>T c.2053A>T c.1920A>T c.2185A>T (n.2185A>T) c.25120A>T (p.Asn8374Tyr) n.3083A>T c.5111A>T (n.5111A>T) n.10027A>T c.4214A>T (n.4214A>T) n.9919A>T c.851-2771T>A (n.851-2771T>A) n.2949A>T n.6972A>T c.2800A>T (p.Asn934Tyr) c.26482A>T (p.Asn8828Tyr) c.26470A>T (p.Asn8824Tyr) c.26461A>T (p.Asn8821Tyr) c.26440A>T (p.Asn8814Tyr) c.26431A>T (p.Asn8811Tyr) c.26425A>T (p.Asn8809Tyr) c.26413A>T (p.Asn8805Tyr) c.26410A>T (p.Asn8804Tyr) c.26371A>T (p.Asn8791Tyr) c.26356A>T (p.Asn8786Tyr) c.26341A>T (p.Asn8781Tyr) c.26329A>T (p.Asn8777Tyr) c.26326A>T (p.Asn8776Tyr) c.26323A>T (p.Asn8775Tyr) c.*146A>T (n.*146A>T) c.26479A>T (p.Asn8827Tyr) c.26467A>T (p.Asn8823Tyr) c.26317A>T (p.Asn8773Tyr) c.24757A>T (p.Asn8253Tyr) c.24250A>T (p.Asn8084Tyr) c.19717A>T (p.Asn6573Tyr) c.26455A>T (p.Asn8819Tyr) c.26404A>T (p.Asn8802Tyr) c.26368A>T (p.Asn8790Tyr) c.26215A>T (p.Asn8739Tyr) | |
6 | g.152122495T>C | CA4052585 | ESR1,SYNE1 | c.2869A>G (p.Asn957Asp) c.26335A>G (p.Asn8779Asp) c.26191A>G (p.Asn8731Asp) c.1678A>G c.2053A>G c.1920A>G c.2185A>G (n.2185A>G) c.25120A>G (p.Asn8374Asp) n.3083A>G c.5111A>G (n.5111A>G) n.10027A>G c.4214A>G (n.4214A>G) n.9919A>G c.851-2771T>C (n.851-2771T>C) n.2949A>G n.6972A>G c.2800A>G (p.Asn934Asp) c.26482A>G (p.Asn8828Asp) c.26470A>G (p.Asn8824Asp) c.26461A>G (p.Asn8821Asp) c.26440A>G (p.Asn8814Asp) c.26431A>G (p.Asn8811Asp) c.26425A>G (p.Asn8809Asp) c.26413A>G (p.Asn8805Asp) c.26410A>G (p.Asn8804Asp) c.26371A>G (p.Asn8791Asp) c.26356A>G (p.Asn8786Asp) c.26341A>G (p.Asn8781Asp) c.26329A>G (p.Asn8777Asp) c.26326A>G (p.Asn8776Asp) c.26323A>G (p.Asn8775Asp) c.*146A>G (n.*146A>G) c.26479A>G (p.Asn8827Asp) c.26467A>G (p.Asn8823Asp) c.26317A>G (p.Asn8773Asp) c.24757A>G (p.Asn8253Asp) c.24250A>G (p.Asn8084Asp) c.19717A>G (p.Asn6573Asp) c.26455A>G (p.Asn8819Asp) c.26404A>G (p.Asn8802Asp) c.26368A>G (p.Asn8790Asp) c.26215A>G (p.Asn8739Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.152122495T>G | CA366088622 | ESR1,SYNE1 | c.2869A>C (p.Asn957His) c.26335A>C (p.Asn8779His) c.26191A>C (p.Asn8731His) c.1678A>C c.2053A>C c.1920A>C c.2185A>C (n.2185A>C) c.25120A>C (p.Asn8374His) n.3083A>C c.5111A>C (n.5111A>C) n.10027A>C c.4214A>C (n.4214A>C) n.9919A>C c.851-2771T>G (n.851-2771T>G) n.2949A>C n.6972A>C c.2800A>C (p.Asn934His) c.26482A>C (p.Asn8828His) c.26470A>C (p.Asn8824His) c.26461A>C (p.Asn8821His) c.26440A>C (p.Asn8814His) c.26431A>C (p.Asn8811His) c.26425A>C (p.Asn8809His) c.26413A>C (p.Asn8805His) c.26410A>C (p.Asn8804His) c.26371A>C (p.Asn8791His) c.26356A>C (p.Asn8786His) c.26341A>C (p.Asn8781His) c.26329A>C (p.Asn8777His) c.26326A>C (p.Asn8776His) c.26323A>C (p.Asn8775His) c.*146A>C (n.*146A>C) c.26479A>C (p.Asn8827His) c.26467A>C (p.Asn8823His) c.26317A>C (p.Asn8773His) c.24757A>C (p.Asn8253His) c.24250A>C (p.Asn8084His) c.19717A>C (p.Asn6573His) c.26455A>C (p.Asn8819His) c.26404A>C (p.Asn8802His) c.26368A>C (p.Asn8790His) c.26215A>C (p.Asn8739His) | |
6 | g.152122495T= | CA1673188871 | ESR1,SYNE1 | c.2869A= (p.Asn957=) c.26335A= (p.Asn8779=) c.26191A= (p.Asn8731=) c.1678A= c.2053A= c.1920A= c.2185A= (n.2185A=) c.25120A= (p.Asn8374=) n.3083A= c.5111A= (n.5111A=) n.10027A= c.4214A= (n.4214A=) n.9919A= c.851-2771T= (n.851-2771T=) n.2949A= n.6972A= c.2800A= (p.Asn934=) c.26482A= (p.Asn8828=) c.26470A= (p.Asn8824=) c.26461A= (p.Asn8821=) c.26440A= (p.Asn8814=) c.26431A= (p.Asn8811=) c.26425A= (p.Asn8809=) c.26413A= (p.Asn8805=) c.26410A= (p.Asn8804=) c.26371A= (p.Asn8791=) c.26356A= (p.Asn8786=) c.26341A= (p.Asn8781=) c.26329A= (p.Asn8777=) c.26326A= (p.Asn8776=) c.26323A= (p.Asn8775=) c.*146A= (n.*146A=) c.26479A= (p.Asn8827=) c.26467A= (p.Asn8823=) c.26317A= (p.Asn8773=) c.24757A= (p.Asn8253=) c.24250A= (p.Asn8084=) c.19717A= (p.Asn6573=) c.26455A= (p.Asn8819=) c.26404A= (p.Asn8802=) c.26368A= (p.Asn8790=) c.26215A= (p.Asn8739=) |