Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152122531T>ACA4052590ESR1,SYNE1c.2833A>T (p.Met945Leu)
c.26299A>T (p.Met8767Leu)
c.26155A>T (p.Met8719Leu)
c.1642A>T
c.2017A>T
c.1884A>T
c.2149A>T (n.2149A>T)
c.25084A>T (p.Met8362Leu)
n.3047A>T
c.5075A>T (n.5075A>T)
n.9991A>T
c.4178A>T (n.4178A>T)
n.9883A>T
c.851-2735T>A (n.851-2735T>A)
n.2913A>T
n.6936A>T
c.2764A>T (p.Met922Leu)
c.26446A>T (p.Met8816Leu)
c.26434A>T (p.Met8812Leu)
c.26425A>T (p.Met8809Leu)
c.26404A>T (p.Met8802Leu)
c.26395A>T (p.Met8799Leu)
c.26389A>T (p.Met8797Leu)
c.26377A>T (p.Met8793Leu)
c.26374A>T (p.Met8792Leu)
c.26335A>T (p.Met8779Leu)
c.26320A>T (p.Met8774Leu)
c.26305A>T (p.Met8769Leu)
c.26293A>T (p.Met8765Leu)
c.26290A>T (p.Met8764Leu)
c.26287A>T (p.Met8763Leu)
c.*110A>T (n.*110A>T)
c.26443A>T (p.Met8815Leu)
c.26431A>T (p.Met8811Leu)
c.26281A>T (p.Met8761Leu)
c.24721A>T (p.Met8241Leu)
c.24214A>T (p.Met8072Leu)
c.19681A>T (p.Met6561Leu)
c.26419A>T (p.Met8807Leu)
c.26368A>T (p.Met8790Leu)
c.26332A>T (p.Met8778Leu)
c.26179A>T (p.Met8727Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122531T>CCA150189513ESR1,SYNE1c.2833A>G (p.Met945Val)
c.26299A>G (p.Met8767Val)
c.26155A>G (p.Met8719Val)
c.1642A>G
c.2017A>G
c.1884A>G
c.2149A>G (n.2149A>G)
c.25084A>G (p.Met8362Val)
n.3047A>G
c.5075A>G (n.5075A>G)
n.9991A>G
c.4178A>G (n.4178A>G)
n.9883A>G
c.851-2735T>C (n.851-2735T>C)
n.2913A>G
n.6936A>G
c.2764A>G (p.Met922Val)
c.26446A>G (p.Met8816Val)
c.26434A>G (p.Met8812Val)
c.26425A>G (p.Met8809Val)
c.26404A>G (p.Met8802Val)
c.26395A>G (p.Met8799Val)
c.26389A>G (p.Met8797Val)
c.26377A>G (p.Met8793Val)
c.26374A>G (p.Met8792Val)
c.26335A>G (p.Met8779Val)
c.26320A>G (p.Met8774Val)
c.26305A>G (p.Met8769Val)
c.26293A>G (p.Met8765Val)
c.26290A>G (p.Met8764Val)
c.26287A>G (p.Met8763Val)
c.*110A>G (n.*110A>G)
c.26443A>G (p.Met8815Val)
c.26431A>G (p.Met8811Val)
c.26281A>G (p.Met8761Val)
c.24721A>G (p.Met8241Val)
c.24214A>G (p.Met8072Val)
c.19681A>G (p.Met6561Val)
c.26419A>G (p.Met8807Val)
c.26368A>G (p.Met8790Val)
c.26332A>G (p.Met8778Val)
c.26179A>G (p.Met8727Val)
 dbSNP gnomAD v3 gnomAD v4
6g.152122531T>GCA366088795ESR1,SYNE1c.2833A>C (p.Met945Leu)
c.26299A>C (p.Met8767Leu)
c.26155A>C (p.Met8719Leu)
c.1642A>C
c.2017A>C
c.1884A>C
c.2149A>C (n.2149A>C)
c.25084A>C (p.Met8362Leu)
n.3047A>C
c.5075A>C (n.5075A>C)
n.9991A>C
c.4178A>C (n.4178A>C)
n.9883A>C
c.851-2735T>G (n.851-2735T>G)
n.2913A>C
n.6936A>C
c.2764A>C (p.Met922Leu)
c.26446A>C (p.Met8816Leu)
c.26434A>C (p.Met8812Leu)
c.26425A>C (p.Met8809Leu)
c.26404A>C (p.Met8802Leu)
c.26395A>C (p.Met8799Leu)
c.26389A>C (p.Met8797Leu)
c.26377A>C (p.Met8793Leu)
c.26374A>C (p.Met8792Leu)
c.26335A>C (p.Met8779Leu)
c.26320A>C (p.Met8774Leu)
c.26305A>C (p.Met8769Leu)
c.26293A>C (p.Met8765Leu)
c.26290A>C (p.Met8764Leu)
c.26287A>C (p.Met8763Leu)
c.*110A>C (n.*110A>C)
c.26443A>C (p.Met8815Leu)
c.26431A>C (p.Met8811Leu)
c.26281A>C (p.Met8761Leu)
c.24721A>C (p.Met8241Leu)
c.24214A>C (p.Met8072Leu)
c.19681A>C (p.Met6561Leu)
c.26419A>C (p.Met8807Leu)
c.26368A>C (p.Met8790Leu)
c.26332A>C (p.Met8778Leu)
c.26179A>C (p.Met8727Leu)
6g.152122531T=CA1673188943ESR1,SYNE1c.2833A= (p.Met945=)
c.26299A= (p.Met8767=)
c.26155A= (p.Met8719=)
c.1642A=
c.2017A=
c.1884A=
c.2149A= (n.2149A=)
c.25084A= (p.Met8362=)
n.3047A=
c.5075A= (n.5075A=)
n.9991A=
c.4178A= (n.4178A=)
n.9883A=
c.851-2735T= (n.851-2735T=)
n.2913A=
n.6936A=
c.2764A= (p.Met922=)
c.26446A= (p.Met8816=)
c.26434A= (p.Met8812=)
c.26425A= (p.Met8809=)
c.26404A= (p.Met8802=)
c.26395A= (p.Met8799=)
c.26389A= (p.Met8797=)
c.26377A= (p.Met8793=)
c.26374A= (p.Met8792=)
c.26335A= (p.Met8779=)
c.26320A= (p.Met8774=)
c.26305A= (p.Met8769=)
c.26293A= (p.Met8765=)
c.26290A= (p.Met8764=)
c.26287A= (p.Met8763=)
c.*110A= (n.*110A=)
c.26443A= (p.Met8815=)
c.26431A= (p.Met8811=)
c.26281A= (p.Met8761=)
c.24721A= (p.Met8241=)
c.24214A= (p.Met8072=)
c.19681A= (p.Met6561=)
c.26419A= (p.Met8807=)
c.26368A= (p.Met8790=)
c.26332A= (p.Met8778=)
c.26179A= (p.Met8727=)
6g.152122532T>ACA452969644ESR1,SYNE1c.2832A>T (p.Pro944=)
c.26298A>T (p.Pro8766=)
c.26154A>T (p.Pro8718=)
c.1641A>T
c.2016A>T
c.1883A>T
c.2148A>T (n.2148A>T)
c.25083A>T (p.Pro8361=)
n.3046A>T
c.5074A>T (n.5074A>T)
n.9990A>T
c.4177A>T (n.4177A>T)
n.9882A>T
c.851-2734T>A (n.851-2734T>A)
n.2912A>T
n.6935A>T
c.2763A>T (p.Pro921=)
c.26445A>T (p.Pro8815=)
c.26433A>T (p.Pro8811=)
c.26424A>T (p.Pro8808=)
c.26403A>T (p.Pro8801=)
c.26394A>T (p.Pro8798=)
c.26388A>T (p.Pro8796=)
c.26376A>T (p.Pro8792=)
c.26373A>T (p.Pro8791=)
c.26334A>T (p.Pro8778=)
c.26319A>T (p.Pro8773=)
c.26304A>T (p.Pro8768=)
c.26292A>T (p.Pro8764=)
c.26289A>T (p.Pro8763=)
c.26286A>T (p.Pro8762=)
c.*109A>T (n.*109A>T)
c.26442A>T (p.Pro8814=)
c.26430A>T (p.Pro8810=)
c.26280A>T (p.Pro8760=)
c.24720A>T (p.Pro8240=)
c.24213A>T (p.Pro8071=)
c.19680A>T (p.Pro6560=)
c.26418A>T (p.Pro8806=)
c.26367A>T (p.Pro8789=)
c.26331A>T (p.Pro8777=)
c.26178A>T (p.Pro8726=)
6g.152122532T>CCA4052591ESR1,SYNE1c.2832A>G (p.Pro944=)
c.26298A>G (p.Pro8766=)
c.26154A>G (p.Pro8718=)
c.1641A>G
c.2016A>G
c.1883A>G
c.2148A>G (n.2148A>G)
c.25083A>G (p.Pro8361=)
n.3046A>G
c.5074A>G (n.5074A>G)
n.9990A>G
c.4177A>G (n.4177A>G)
n.9882A>G
c.851-2734T>C (n.851-2734T>C)
n.2912A>G
n.6935A>G
c.2763A>G (p.Pro921=)
c.26445A>G (p.Pro8815=)
c.26433A>G (p.Pro8811=)
c.26424A>G (p.Pro8808=)
c.26403A>G (p.Pro8801=)
c.26394A>G (p.Pro8798=)
c.26388A>G (p.Pro8796=)
c.26376A>G (p.Pro8792=)
c.26373A>G (p.Pro8791=)
c.26334A>G (p.Pro8778=)
c.26319A>G (p.Pro8773=)
c.26304A>G (p.Pro8768=)
c.26292A>G (p.Pro8764=)
c.26289A>G (p.Pro8763=)
c.26286A>G (p.Pro8762=)
c.*109A>G (n.*109A>G)
c.26442A>G (p.Pro8814=)
c.26430A>G (p.Pro8810=)
c.26280A>G (p.Pro8760=)
c.24720A>G (p.Pro8240=)
c.24213A>G (p.Pro8071=)
c.19680A>G (p.Pro6560=)
c.26418A>G (p.Pro8806=)
c.26367A>G (p.Pro8789=)
c.26331A>G (p.Pro8777=)
c.26178A>G (p.Pro8726=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122532T>GCA452969645ESR1,SYNE1c.2832A>C (p.Pro944=)
c.26298A>C (p.Pro8766=)
c.26154A>C (p.Pro8718=)
c.1641A>C
c.2016A>C
c.1883A>C
c.2148A>C (n.2148A>C)
c.25083A>C (p.Pro8361=)
n.3046A>C
c.5074A>C (n.5074A>C)
n.9990A>C
c.4177A>C (n.4177A>C)
n.9882A>C
c.851-2734T>G (n.851-2734T>G)
n.2912A>C
n.6935A>C
c.2763A>C (p.Pro921=)
c.26445A>C (p.Pro8815=)
c.26433A>C (p.Pro8811=)
c.26424A>C (p.Pro8808=)
c.26403A>C (p.Pro8801=)
c.26394A>C (p.Pro8798=)
c.26388A>C (p.Pro8796=)
c.26376A>C (p.Pro8792=)
c.26373A>C (p.Pro8791=)
c.26334A>C (p.Pro8778=)
c.26319A>C (p.Pro8773=)
c.26304A>C (p.Pro8768=)
c.26292A>C (p.Pro8764=)
c.26289A>C (p.Pro8763=)
c.26286A>C (p.Pro8762=)
c.*109A>C (n.*109A>C)
c.26442A>C (p.Pro8814=)
c.26430A>C (p.Pro8810=)
c.26280A>C (p.Pro8760=)
c.24720A>C (p.Pro8240=)
c.24213A>C (p.Pro8071=)
c.19680A>C (p.Pro6560=)
c.26418A>C (p.Pro8806=)
c.26367A>C (p.Pro8789=)
c.26331A>C (p.Pro8777=)
c.26178A>C (p.Pro8726=)
 gnomAD v4
6g.152122532T=CA1673188953ESR1,SYNE1c.2832A= (p.Pro944=)
c.26298A= (p.Pro8766=)
c.26154A= (p.Pro8718=)
c.1641A=
c.2016A=
c.1883A=
c.2148A= (n.2148A=)
c.25083A= (p.Pro8361=)
n.3046A=
c.5074A= (n.5074A=)
n.9990A=
c.4177A= (n.4177A=)
n.9882A=
c.851-2734T= (n.851-2734T=)
n.2912A=
n.6935A=
c.2763A= (p.Pro921=)
c.26445A= (p.Pro8815=)
c.26433A= (p.Pro8811=)
c.26424A= (p.Pro8808=)
c.26403A= (p.Pro8801=)
c.26394A= (p.Pro8798=)
c.26388A= (p.Pro8796=)
c.26376A= (p.Pro8792=)
c.26373A= (p.Pro8791=)
c.26334A= (p.Pro8778=)
c.26319A= (p.Pro8773=)
c.26304A= (p.Pro8768=)
c.26292A= (p.Pro8764=)
c.26289A= (p.Pro8763=)
c.26286A= (p.Pro8762=)
c.*109A= (n.*109A=)
c.26442A= (p.Pro8814=)
c.26430A= (p.Pro8810=)
c.26280A= (p.Pro8760=)
c.24720A= (p.Pro8240=)
c.24213A= (p.Pro8071=)
c.19680A= (p.Pro6560=)
c.26418A= (p.Pro8806=)
c.26367A= (p.Pro8789=)
c.26331A= (p.Pro8777=)
c.26178A= (p.Pro8726=)
6g.152122533G>ACA366088798ESR1,SYNE1c.2831C>T (p.Pro944Leu)
c.26297C>T (p.Pro8766Leu)
c.26153C>T (p.Pro8718Leu)
c.1640C>T
c.2015C>T
c.1882C>T
c.2147C>T (n.2147C>T)
c.25082C>T (p.Pro8361Leu)
n.3045C>T
c.5073C>T (n.5073C>T)
n.9989C>T
c.4176C>T (n.4176C>T)
n.9881C>T
c.851-2733G>A (n.851-2733G>A)
n.2911C>T
n.6934C>T
c.2762C>T (p.Pro921Leu)
c.26444C>T (p.Pro8815Leu)
c.26432C>T (p.Pro8811Leu)
c.26423C>T (p.Pro8808Leu)
c.26402C>T (p.Pro8801Leu)
c.26393C>T (p.Pro8798Leu)
c.26387C>T (p.Pro8796Leu)
c.26375C>T (p.Pro8792Leu)
c.26372C>T (p.Pro8791Leu)
c.26333C>T (p.Pro8778Leu)
c.26318C>T (p.Pro8773Leu)
c.26303C>T (p.Pro8768Leu)
c.26291C>T (p.Pro8764Leu)
c.26288C>T (p.Pro8763Leu)
c.26285C>T (p.Pro8762Leu)
c.*108C>T (n.*108C>T)
c.26441C>T (p.Pro8814Leu)
c.26429C>T (p.Pro8810Leu)
c.26279C>T (p.Pro8760Leu)
c.24719C>T (p.Pro8240Leu)
c.24212C>T (p.Pro8071Leu)
c.19679C>T (p.Pro6560Leu)
c.26417C>T (p.Pro8806Leu)
c.26366C>T (p.Pro8789Leu)
c.26330C>T (p.Pro8777Leu)
c.26177C>T (p.Pro8726Leu)
6g.152122533G>CCA366088799ESR1,SYNE1c.2831C>G (p.Pro944Arg)
c.26297C>G (p.Pro8766Arg)
c.26153C>G (p.Pro8718Arg)
c.1640C>G
c.2015C>G
c.1882C>G
c.2147C>G (n.2147C>G)
c.25082C>G (p.Pro8361Arg)
n.3045C>G
c.5073C>G (n.5073C>G)
n.9989C>G
c.4176C>G (n.4176C>G)
n.9881C>G
c.851-2733G>C (n.851-2733G>C)
n.2911C>G
n.6934C>G
c.2762C>G (p.Pro921Arg)
c.26444C>G (p.Pro8815Arg)
c.26432C>G (p.Pro8811Arg)
c.26423C>G (p.Pro8808Arg)
c.26402C>G (p.Pro8801Arg)
c.26393C>G (p.Pro8798Arg)
c.26387C>G (p.Pro8796Arg)
c.26375C>G (p.Pro8792Arg)
c.26372C>G (p.Pro8791Arg)
c.26333C>G (p.Pro8778Arg)
c.26318C>G (p.Pro8773Arg)
c.26303C>G (p.Pro8768Arg)
c.26291C>G (p.Pro8764Arg)
c.26288C>G (p.Pro8763Arg)
c.26285C>G (p.Pro8762Arg)
c.*108C>G (n.*108C>G)
c.26441C>G (p.Pro8814Arg)
c.26429C>G (p.Pro8810Arg)
c.26279C>G (p.Pro8760Arg)
c.24719C>G (p.Pro8240Arg)
c.24212C>G (p.Pro8071Arg)
c.19679C>G (p.Pro6560Arg)
c.26417C>G (p.Pro8806Arg)
c.26366C>G (p.Pro8789Arg)
c.26330C>G (p.Pro8777Arg)
c.26177C>G (p.Pro8726Arg)
6g.152122533G>TCA366088800ESR1,SYNE1c.2831C>A (p.Pro944Gln)
c.26297C>A (p.Pro8766Gln)
c.26153C>A (p.Pro8718Gln)
c.1640C>A
c.2015C>A
c.1882C>A
c.2147C>A (n.2147C>A)
c.25082C>A (p.Pro8361Gln)
n.3045C>A
c.5073C>A (n.5073C>A)
n.9989C>A
c.4176C>A (n.4176C>A)
n.9881C>A
c.851-2733G>T (n.851-2733G>T)
n.2911C>A
n.6934C>A
c.2762C>A (p.Pro921Gln)
c.26444C>A (p.Pro8815Gln)
c.26432C>A (p.Pro8811Gln)
c.26423C>A (p.Pro8808Gln)
c.26402C>A (p.Pro8801Gln)
c.26393C>A (p.Pro8798Gln)
c.26387C>A (p.Pro8796Gln)
c.26375C>A (p.Pro8792Gln)
c.26372C>A (p.Pro8791Gln)
c.26333C>A (p.Pro8778Gln)
c.26318C>A (p.Pro8773Gln)
c.26303C>A (p.Pro8768Gln)
c.26291C>A (p.Pro8764Gln)
c.26288C>A (p.Pro8763Gln)
c.26285C>A (p.Pro8762Gln)
c.*108C>A (n.*108C>A)
c.26441C>A (p.Pro8814Gln)
c.26429C>A (p.Pro8810Gln)
c.26279C>A (p.Pro8760Gln)
c.24719C>A (p.Pro8240Gln)
c.24212C>A (p.Pro8071Gln)
c.19679C>A (p.Pro6560Gln)
c.26417C>A (p.Pro8806Gln)
c.26366C>A (p.Pro8789Gln)
c.26330C>A (p.Pro8777Gln)
c.26177C>A (p.Pro8726Gln)
6g.152122534G>ACA366088802ESR1,SYNE1c.2830C>T (p.Pro944Ser)
c.26296C>T (p.Pro8766Ser)
c.26152C>T (p.Pro8718Ser)
c.1639C>T
c.2014C>T
c.1881C>T
c.2146C>T (n.2146C>T)
c.25081C>T (p.Pro8361Ser)
n.3044C>T
c.5072C>T (n.5072C>T)
n.9988C>T
c.4175C>T (n.4175C>T)
n.9880C>T
c.851-2732G>A (n.851-2732G>A)
n.2910C>T
n.6933C>T
c.2761C>T (p.Pro921Ser)
c.26443C>T (p.Pro8815Ser)
c.26431C>T (p.Pro8811Ser)
c.26422C>T (p.Pro8808Ser)
c.26401C>T (p.Pro8801Ser)
c.26392C>T (p.Pro8798Ser)
c.26386C>T (p.Pro8796Ser)
c.26374C>T (p.Pro8792Ser)
c.26371C>T (p.Pro8791Ser)
c.26332C>T (p.Pro8778Ser)
c.26317C>T (p.Pro8773Ser)
c.26302C>T (p.Pro8768Ser)
c.26290C>T (p.Pro8764Ser)
c.26287C>T (p.Pro8763Ser)
c.26284C>T (p.Pro8762Ser)
c.*107C>T (n.*107C>T)
c.26440C>T (p.Pro8814Ser)
c.26428C>T (p.Pro8810Ser)
c.26278C>T (p.Pro8760Ser)
c.24718C>T (p.Pro8240Ser)
c.24211C>T (p.Pro8071Ser)
c.19678C>T (p.Pro6560Ser)
c.26416C>T (p.Pro8806Ser)
c.26365C>T (p.Pro8789Ser)
c.26329C>T (p.Pro8777Ser)
c.26176C>T (p.Pro8726Ser)
6g.152122534G>CCA366088803ESR1,SYNE1c.2830C>G (p.Pro944Ala)
c.26296C>G (p.Pro8766Ala)
c.26152C>G (p.Pro8718Ala)
c.1639C>G
c.2014C>G
c.1881C>G
c.2146C>G (n.2146C>G)
c.25081C>G (p.Pro8361Ala)
n.3044C>G
c.5072C>G (n.5072C>G)
n.9988C>G
c.4175C>G (n.4175C>G)
n.9880C>G
c.851-2732G>C (n.851-2732G>C)
n.2910C>G
n.6933C>G
c.2761C>G (p.Pro921Ala)
c.26443C>G (p.Pro8815Ala)
c.26431C>G (p.Pro8811Ala)
c.26422C>G (p.Pro8808Ala)
c.26401C>G (p.Pro8801Ala)
c.26392C>G (p.Pro8798Ala)
c.26386C>G (p.Pro8796Ala)
c.26374C>G (p.Pro8792Ala)
c.26371C>G (p.Pro8791Ala)
c.26332C>G (p.Pro8778Ala)
c.26317C>G (p.Pro8773Ala)
c.26302C>G (p.Pro8768Ala)
c.26290C>G (p.Pro8764Ala)
c.26287C>G (p.Pro8763Ala)
c.26284C>G (p.Pro8762Ala)
c.*107C>G (n.*107C>G)
c.26440C>G (p.Pro8814Ala)
c.26428C>G (p.Pro8810Ala)
c.26278C>G (p.Pro8760Ala)
c.24718C>G (p.Pro8240Ala)
c.24211C>G (p.Pro8071Ala)
c.19678C>G (p.Pro6560Ala)
c.26416C>G (p.Pro8806Ala)
c.26365C>G (p.Pro8789Ala)
c.26329C>G (p.Pro8777Ala)
c.26176C>G (p.Pro8726Ala)
6g.152122534G>TCA366088804ESR1,SYNE1c.2830C>A (p.Pro944Thr)
c.26296C>A (p.Pro8766Thr)
c.26152C>A (p.Pro8718Thr)
c.1639C>A
c.2014C>A
c.1881C>A
c.2146C>A (n.2146C>A)
c.25081C>A (p.Pro8361Thr)
n.3044C>A
c.5072C>A (n.5072C>A)
n.9988C>A
c.4175C>A (n.4175C>A)
n.9880C>A
c.851-2732G>T (n.851-2732G>T)
n.2910C>A
n.6933C>A
c.2761C>A (p.Pro921Thr)
c.26443C>A (p.Pro8815Thr)
c.26431C>A (p.Pro8811Thr)
c.26422C>A (p.Pro8808Thr)
c.26401C>A (p.Pro8801Thr)
c.26392C>A (p.Pro8798Thr)
c.26386C>A (p.Pro8796Thr)
c.26374C>A (p.Pro8792Thr)
c.26371C>A (p.Pro8791Thr)
c.26332C>A (p.Pro8778Thr)
c.26317C>A (p.Pro8773Thr)
c.26302C>A (p.Pro8768Thr)
c.26290C>A (p.Pro8764Thr)
c.26287C>A (p.Pro8763Thr)
c.26284C>A (p.Pro8762Thr)
c.*107C>A (n.*107C>A)
c.26440C>A (p.Pro8814Thr)
c.26428C>A (p.Pro8810Thr)
c.26278C>A (p.Pro8760Thr)
c.24718C>A (p.Pro8240Thr)
c.24211C>A (p.Pro8071Thr)
c.19678C>A (p.Pro6560Thr)
c.26416C>A (p.Pro8806Thr)
c.26365C>A (p.Pro8789Thr)
c.26329C>A (p.Pro8777Thr)
c.26176C>A (p.Pro8726Thr)
6g.152122535T>ACA452969651ESR1,SYNE1c.2829A>T (p.Val943=)
c.26295A>T (p.Val8765=)
c.26151A>T (p.Val8717=)
c.1638A>T
c.2013A>T
c.1880A>T
c.2145A>T (n.2145A>T)
c.25080A>T (p.Val8360=)
n.3043A>T
c.5071A>T (n.5071A>T)
n.9987A>T
c.4174A>T (n.4174A>T)
n.9879A>T
c.851-2731T>A (n.851-2731T>A)
n.2909A>T
n.6932A>T
c.2760A>T (p.Val920=)
c.26442A>T (p.Val8814=)
c.26430A>T (p.Val8810=)
c.26421A>T (p.Val8807=)
c.26400A>T (p.Val8800=)
c.26391A>T (p.Val8797=)
c.26385A>T (p.Val8795=)
c.26373A>T (p.Val8791=)
c.26370A>T (p.Val8790=)
c.26331A>T (p.Val8777=)
c.26316A>T (p.Val8772=)
c.26301A>T (p.Val8767=)
c.26289A>T (p.Val8763=)
c.26286A>T (p.Val8762=)
c.26283A>T (p.Val8761=)
c.*106A>T (n.*106A>T)
c.26439A>T (p.Val8813=)
c.26427A>T (p.Val8809=)
c.26277A>T (p.Val8759=)
c.24717A>T (p.Val8239=)
c.24210A>T (p.Val8070=)
c.19677A>T (p.Val6559=)
c.26415A>T (p.Val8805=)
c.26364A>T (p.Val8788=)
c.26328A>T (p.Val8776=)
c.26175A>T (p.Val8725=)
6g.152122535T>CCA452969652ESR1,SYNE1c.2829A>G (p.Val943=)
c.26295A>G (p.Val8765=)
c.26151A>G (p.Val8717=)
c.1638A>G
c.2013A>G
c.1880A>G
c.2145A>G (n.2145A>G)
c.25080A>G (p.Val8360=)
n.3043A>G
c.5071A>G (n.5071A>G)
n.9987A>G
c.4174A>G (n.4174A>G)
n.9879A>G
c.851-2731T>C (n.851-2731T>C)
n.2909A>G
n.6932A>G
c.2760A>G (p.Val920=)
c.26442A>G (p.Val8814=)
c.26430A>G (p.Val8810=)
c.26421A>G (p.Val8807=)
c.26400A>G (p.Val8800=)
c.26391A>G (p.Val8797=)
c.26385A>G (p.Val8795=)
c.26373A>G (p.Val8791=)
c.26370A>G (p.Val8790=)
c.26331A>G (p.Val8777=)
c.26316A>G (p.Val8772=)
c.26301A>G (p.Val8767=)
c.26289A>G (p.Val8763=)
c.26286A>G (p.Val8762=)
c.26283A>G (p.Val8761=)
c.*106A>G (n.*106A>G)
c.26439A>G (p.Val8813=)
c.26427A>G (p.Val8809=)
c.26277A>G (p.Val8759=)
c.24717A>G (p.Val8239=)
c.24210A>G (p.Val8070=)
c.19677A>G (p.Val6559=)
c.26415A>G (p.Val8805=)
c.26364A>G (p.Val8788=)
c.26328A>G (p.Val8776=)
c.26175A>G (p.Val8725=)
6g.152122535T>GCA452969653ESR1,SYNE1c.2829A>C (p.Val943=)
c.26295A>C (p.Val8765=)
c.26151A>C (p.Val8717=)
c.1638A>C
c.2013A>C
c.1880A>C
c.2145A>C (n.2145A>C)
c.25080A>C (p.Val8360=)
n.3043A>C
c.5071A>C (n.5071A>C)
n.9987A>C
c.4174A>C (n.4174A>C)
n.9879A>C
c.851-2731T>G (n.851-2731T>G)
n.2909A>C
n.6932A>C
c.2760A>C (p.Val920=)
c.26442A>C (p.Val8814=)
c.26430A>C (p.Val8810=)
c.26421A>C (p.Val8807=)
c.26400A>C (p.Val8800=)
c.26391A>C (p.Val8797=)
c.26385A>C (p.Val8795=)
c.26373A>C (p.Val8791=)
c.26370A>C (p.Val8790=)
c.26331A>C (p.Val8777=)
c.26316A>C (p.Val8772=)
c.26301A>C (p.Val8767=)
c.26289A>C (p.Val8763=)
c.26286A>C (p.Val8762=)
c.26283A>C (p.Val8761=)
c.*106A>C (n.*106A>C)
c.26439A>C (p.Val8813=)
c.26427A>C (p.Val8809=)
c.26277A>C (p.Val8759=)
c.24717A>C (p.Val8239=)
c.24210A>C (p.Val8070=)
c.19677A>C (p.Val6559=)
c.26415A>C (p.Val8805=)
c.26364A>C (p.Val8788=)
c.26328A>C (p.Val8776=)
c.26175A>C (p.Val8725=)
6g.152122536A>CCA366088806ESR1,SYNE1c.2828T>G (p.Val943Gly)
c.26294T>G (p.Val8765Gly)
c.26150T>G (p.Val8717Gly)
c.1637T>G
c.2012T>G
c.1879T>G
c.2144T>G (n.2144T>G)
c.25079T>G (p.Val8360Gly)
n.3042T>G
c.5070T>G (n.5070T>G)
n.9986T>G
c.4173T>G (n.4173T>G)
n.9878T>G
c.851-2730A>C (n.851-2730A>C)
n.2908T>G
n.6931T>G
c.2759T>G (p.Val920Gly)
c.26441T>G (p.Val8814Gly)
c.26429T>G (p.Val8810Gly)
c.26420T>G (p.Val8807Gly)
c.26399T>G (p.Val8800Gly)
c.26390T>G (p.Val8797Gly)
c.26384T>G (p.Val8795Gly)
c.26372T>G (p.Val8791Gly)
c.26369T>G (p.Val8790Gly)
c.26330T>G (p.Val8777Gly)
c.26315T>G (p.Val8772Gly)
c.26300T>G (p.Val8767Gly)
c.26288T>G (p.Val8763Gly)
c.26285T>G (p.Val8762Gly)
c.26282T>G (p.Val8761Gly)
c.*105T>G (n.*105T>G)
c.26438T>G (p.Val8813Gly)
c.26426T>G (p.Val8809Gly)
c.26276T>G (p.Val8759Gly)
c.24716T>G (p.Val8239Gly)
c.24209T>G (p.Val8070Gly)
c.19676T>G (p.Val6559Gly)
c.26414T>G (p.Val8805Gly)
c.26363T>G (p.Val8788Gly)
c.26327T>G (p.Val8776Gly)
c.26174T>G (p.Val8725Gly)
6g.152122536A>GCA366088807ESR1,SYNE1c.2828T>C (p.Val943Ala)
c.26294T>C (p.Val8765Ala)
c.26150T>C (p.Val8717Ala)
c.1637T>C
c.2012T>C
c.1879T>C
c.2144T>C (n.2144T>C)
c.25079T>C (p.Val8360Ala)
n.3042T>C
c.5070T>C (n.5070T>C)
n.9986T>C
c.4173T>C (n.4173T>C)
n.9878T>C
c.851-2730A>G (n.851-2730A>G)
n.2908T>C
n.6931T>C
c.2759T>C (p.Val920Ala)
c.26441T>C (p.Val8814Ala)
c.26429T>C (p.Val8810Ala)
c.26420T>C (p.Val8807Ala)
c.26399T>C (p.Val8800Ala)
c.26390T>C (p.Val8797Ala)
c.26384T>C (p.Val8795Ala)
c.26372T>C (p.Val8791Ala)
c.26369T>C (p.Val8790Ala)
c.26330T>C (p.Val8777Ala)
c.26315T>C (p.Val8772Ala)
c.26300T>C (p.Val8767Ala)
c.26288T>C (p.Val8763Ala)
c.26285T>C (p.Val8762Ala)
c.26282T>C (p.Val8761Ala)
c.*105T>C (n.*105T>C)
c.26438T>C (p.Val8813Ala)
c.26426T>C (p.Val8809Ala)
c.26276T>C (p.Val8759Ala)
c.24716T>C (p.Val8239Ala)
c.24209T>C (p.Val8070Ala)
c.19676T>C (p.Val6559Ala)
c.26414T>C (p.Val8805Ala)
c.26363T>C (p.Val8788Ala)
c.26327T>C (p.Val8776Ala)
c.26174T>C (p.Val8725Ala)
6g.152122536A>TCA366088805ESR1,SYNE1c.2828T>A (p.Val943Glu)
c.26294T>A (p.Val8765Glu)
c.26150T>A (p.Val8717Glu)
c.1637T>A
c.2012T>A
c.1879T>A
c.2144T>A (n.2144T>A)
c.25079T>A (p.Val8360Glu)
n.3042T>A
c.5070T>A (n.5070T>A)
n.9986T>A
c.4173T>A (n.4173T>A)
n.9878T>A
c.851-2730A>T (n.851-2730A>T)
n.2908T>A
n.6931T>A
c.2759T>A (p.Val920Glu)
c.26441T>A (p.Val8814Glu)
c.26429T>A (p.Val8810Glu)
c.26420T>A (p.Val8807Glu)
c.26399T>A (p.Val8800Glu)
c.26390T>A (p.Val8797Glu)
c.26384T>A (p.Val8795Glu)
c.26372T>A (p.Val8791Glu)
c.26369T>A (p.Val8790Glu)
c.26330T>A (p.Val8777Glu)
c.26315T>A (p.Val8772Glu)
c.26300T>A (p.Val8767Glu)
c.26288T>A (p.Val8763Glu)
c.26285T>A (p.Val8762Glu)
c.26282T>A (p.Val8761Glu)
c.*105T>A (n.*105T>A)
c.26438T>A (p.Val8813Glu)
c.26426T>A (p.Val8809Glu)
c.26276T>A (p.Val8759Glu)
c.24716T>A (p.Val8239Glu)
c.24209T>A (p.Val8070Glu)
c.19676T>A (p.Val6559Glu)
c.26414T>A (p.Val8805Glu)
c.26363T>A (p.Val8788Glu)
c.26327T>A (p.Val8776Glu)
c.26174T>A (p.Val8725Glu)
6g.152122537C>ACA366088808ESR1,SYNE1c.2827G>T (p.Val943Leu)
c.26293G>T (p.Val8765Leu)
c.26149G>T (p.Val8717Leu)
c.1636G>T
c.2011G>T
c.1878G>T
c.2143G>T (n.2143G>T)
c.25078G>T (p.Val8360Leu)
n.3041G>T
c.5069G>T (n.5069G>T)
n.9985G>T
c.4172G>T (n.4172G>T)
n.9877G>T
c.851-2729C>A (n.851-2729C>A)
n.2907G>T
n.6930G>T
c.2758G>T (p.Val920Leu)
c.26440G>T (p.Val8814Leu)
c.26428G>T (p.Val8810Leu)
c.26419G>T (p.Val8807Leu)
c.26398G>T (p.Val8800Leu)
c.26389G>T (p.Val8797Leu)
c.26383G>T (p.Val8795Leu)
c.26371G>T (p.Val8791Leu)
c.26368G>T (p.Val8790Leu)
c.26329G>T (p.Val8777Leu)
c.26314G>T (p.Val8772Leu)
c.26299G>T (p.Val8767Leu)
c.26287G>T (p.Val8763Leu)
c.26284G>T (p.Val8762Leu)
c.26281G>T (p.Val8761Leu)
c.*104G>T (n.*104G>T)
c.26437G>T (p.Val8813Leu)
c.26425G>T (p.Val8809Leu)
c.26275G>T (p.Val8759Leu)
c.24715G>T (p.Val8239Leu)
c.24208G>T (p.Val8070Leu)
c.19675G>T (p.Val6559Leu)
c.26413G>T (p.Val8805Leu)
c.26362G>T (p.Val8788Leu)
c.26326G>T (p.Val8776Leu)
c.26173G>T (p.Val8725Leu)
6g.152122537C>GCA366088809ESR1,SYNE1c.2827G>C (p.Val943Leu)
c.26293G>C (p.Val8765Leu)
c.26149G>C (p.Val8717Leu)
c.1636G>C
c.2011G>C
c.1878G>C
c.2143G>C (n.2143G>C)
c.25078G>C (p.Val8360Leu)
n.3041G>C
c.5069G>C (n.5069G>C)
n.9985G>C
c.4172G>C (n.4172G>C)
n.9877G>C
c.851-2729C>G (n.851-2729C>G)
n.2907G>C
n.6930G>C
c.2758G>C (p.Val920Leu)
c.26440G>C (p.Val8814Leu)
c.26428G>C (p.Val8810Leu)
c.26419G>C (p.Val8807Leu)
c.26398G>C (p.Val8800Leu)
c.26389G>C (p.Val8797Leu)
c.26383G>C (p.Val8795Leu)
c.26371G>C (p.Val8791Leu)
c.26368G>C (p.Val8790Leu)
c.26329G>C (p.Val8777Leu)
c.26314G>C (p.Val8772Leu)
c.26299G>C (p.Val8767Leu)
c.26287G>C (p.Val8763Leu)
c.26284G>C (p.Val8762Leu)
c.26281G>C (p.Val8761Leu)
c.*104G>C (n.*104G>C)
c.26437G>C (p.Val8813Leu)
c.26425G>C (p.Val8809Leu)
c.26275G>C (p.Val8759Leu)
c.24715G>C (p.Val8239Leu)
c.24208G>C (p.Val8070Leu)
c.19675G>C (p.Val6559Leu)
c.26413G>C (p.Val8805Leu)
c.26362G>C (p.Val8788Leu)
c.26326G>C (p.Val8776Leu)
c.26173G>C (p.Val8725Leu)
6g.152122537C>TCA366088810ESR1,SYNE1c.2827G>A (p.Val943Ile)
c.26293G>A (p.Val8765Ile)
c.26149G>A (p.Val8717Ile)
c.1636G>A
c.2011G>A
c.1878G>A
c.2143G>A (n.2143G>A)
c.25078G>A (p.Val8360Ile)
n.3041G>A
c.5069G>A (n.5069G>A)
n.9985G>A
c.4172G>A (n.4172G>A)
n.9877G>A
c.851-2729C>T (n.851-2729C>T)
n.2907G>A
n.6930G>A
c.2758G>A (p.Val920Ile)
c.26440G>A (p.Val8814Ile)
c.26428G>A (p.Val8810Ile)
c.26419G>A (p.Val8807Ile)
c.26398G>A (p.Val8800Ile)
c.26389G>A (p.Val8797Ile)
c.26383G>A (p.Val8795Ile)
c.26371G>A (p.Val8791Ile)
c.26368G>A (p.Val8790Ile)
c.26329G>A (p.Val8777Ile)
c.26314G>A (p.Val8772Ile)
c.26299G>A (p.Val8767Ile)
c.26287G>A (p.Val8763Ile)
c.26284G>A (p.Val8762Ile)
c.26281G>A (p.Val8761Ile)
c.*104G>A (n.*104G>A)
c.26437G>A (p.Val8813Ile)
c.26425G>A (p.Val8809Ile)
c.26275G>A (p.Val8759Ile)
c.24715G>A (p.Val8239Ile)
c.24208G>A (p.Val8070Ile)
c.19675G>A (p.Val6559Ile)
c.26413G>A (p.Val8805Ile)
c.26362G>A (p.Val8788Ile)
c.26326G>A (p.Val8776Ile)
c.26173G>A (p.Val8725Ile)
 gnomAD v4
6g.152122538A>CCA452969660ESR1,SYNE1c.2826T>G (p.Leu942=)
c.26292T>G (p.Leu8764=)
c.26148T>G (p.Leu8716=)
c.1635T>G
c.2010T>G
c.1877T>G
c.2142T>G (n.2142T>G)
c.25077T>G (p.Leu8359=)
n.3040T>G
c.5068T>G (n.5068T>G)
n.9984T>G
c.4171T>G (n.4171T>G)
n.9876T>G
c.851-2728A>C (n.851-2728A>C)
n.2906T>G
n.6929T>G
c.2757T>G (p.Leu919=)
c.26439T>G (p.Leu8813=)
c.26427T>G (p.Leu8809=)
c.26418T>G (p.Leu8806=)
c.26397T>G (p.Leu8799=)
c.26388T>G (p.Leu8796=)
c.26382T>G (p.Leu8794=)
c.26370T>G (p.Leu8790=)
c.26367T>G (p.Leu8789=)
c.26328T>G (p.Leu8776=)
c.26313T>G (p.Leu8771=)
c.26298T>G (p.Leu8766=)
c.26286T>G (p.Leu8762=)
c.26283T>G (p.Leu8761=)
c.26280T>G (p.Leu8760=)
c.*103T>G (n.*103T>G)
c.26436T>G (p.Leu8812=)
c.26424T>G (p.Leu8808=)
c.26274T>G (p.Leu8758=)
c.24714T>G (p.Leu8238=)
c.24207T>G (p.Leu8069=)
c.19674T>G (p.Leu6558=)
c.26412T>G (p.Leu8804=)
c.26361T>G (p.Leu8787=)
c.26325T>G (p.Leu8775=)
c.26172T>G (p.Leu8724=)
6g.152122538A>GCA452969658ESR1,SYNE1c.2826T>C (p.Leu942=)
c.26292T>C (p.Leu8764=)
c.26148T>C (p.Leu8716=)
c.1635T>C
c.2010T>C
c.1877T>C
c.2142T>C (n.2142T>C)
c.25077T>C (p.Leu8359=)
n.3040T>C
c.5068T>C (n.5068T>C)
n.9984T>C
c.4171T>C (n.4171T>C)
n.9876T>C
c.851-2728A>G (n.851-2728A>G)
n.2906T>C
n.6929T>C
c.2757T>C (p.Leu919=)
c.26439T>C (p.Leu8813=)
c.26427T>C (p.Leu8809=)
c.26418T>C (p.Leu8806=)
c.26397T>C (p.Leu8799=)
c.26388T>C (p.Leu8796=)
c.26382T>C (p.Leu8794=)
c.26370T>C (p.Leu8790=)
c.26367T>C (p.Leu8789=)
c.26328T>C (p.Leu8776=)
c.26313T>C (p.Leu8771=)
c.26298T>C (p.Leu8766=)
c.26286T>C (p.Leu8762=)
c.26283T>C (p.Leu8761=)
c.26280T>C (p.Leu8760=)
c.*103T>C (n.*103T>C)
c.26436T>C (p.Leu8812=)
c.26424T>C (p.Leu8808=)
c.26274T>C (p.Leu8758=)
c.24714T>C (p.Leu8238=)
c.24207T>C (p.Leu8069=)
c.19674T>C (p.Leu6558=)
c.26412T>C (p.Leu8804=)
c.26361T>C (p.Leu8787=)
c.26325T>C (p.Leu8775=)
c.26172T>C (p.Leu8724=)
6g.152122538A>TCA452969659ESR1,SYNE1c.2826T>A (p.Leu942=)
c.26292T>A (p.Leu8764=)
c.26148T>A (p.Leu8716=)
c.1635T>A
c.2010T>A
c.1877T>A
c.2142T>A (n.2142T>A)
c.25077T>A (p.Leu8359=)
n.3040T>A
c.5068T>A (n.5068T>A)
n.9984T>A
c.4171T>A (n.4171T>A)
n.9876T>A
c.851-2728A>T (n.851-2728A>T)
n.2906T>A
n.6929T>A
c.2757T>A (p.Leu919=)
c.26439T>A (p.Leu8813=)
c.26427T>A (p.Leu8809=)
c.26418T>A (p.Leu8806=)
c.26397T>A (p.Leu8799=)
c.26388T>A (p.Leu8796=)
c.26382T>A (p.Leu8794=)
c.26370T>A (p.Leu8790=)
c.26367T>A (p.Leu8789=)
c.26328T>A (p.Leu8776=)
c.26313T>A (p.Leu8771=)
c.26298T>A (p.Leu8766=)
c.26286T>A (p.Leu8762=)
c.26283T>A (p.Leu8761=)
c.26280T>A (p.Leu8760=)
c.*103T>A (n.*103T>A)
c.26436T>A (p.Leu8812=)
c.26424T>A (p.Leu8808=)
c.26274T>A (p.Leu8758=)
c.24714T>A (p.Leu8238=)
c.24207T>A (p.Leu8069=)
c.19674T>A (p.Leu6558=)
c.26412T>A (p.Leu8804=)
c.26361T>A (p.Leu8787=)
c.26325T>A (p.Leu8775=)
c.26172T>A (p.Leu8724=)
6g.152122539A>CCA366088811ESR1,SYNE1c.2825T>G (p.Leu942Arg)
c.26291T>G (p.Leu8764Arg)
c.26147T>G (p.Leu8716Arg)
c.1634T>G
c.2009T>G
c.1876T>G
c.2141T>G (n.2141T>G)
c.25076T>G (p.Leu8359Arg)
n.3039T>G
c.5067T>G (n.5067T>G)
n.9983T>G
c.4170T>G (n.4170T>G)
n.9875T>G
c.851-2727A>C (n.851-2727A>C)
n.2905T>G
n.6928T>G
c.2756T>G (p.Leu919Arg)
c.26438T>G (p.Leu8813Arg)
c.26426T>G (p.Leu8809Arg)
c.26417T>G (p.Leu8806Arg)
c.26396T>G (p.Leu8799Arg)
c.26387T>G (p.Leu8796Arg)
c.26381T>G (p.Leu8794Arg)
c.26369T>G (p.Leu8790Arg)
c.26366T>G (p.Leu8789Arg)
c.26327T>G (p.Leu8776Arg)
c.26312T>G (p.Leu8771Arg)
c.26297T>G (p.Leu8766Arg)
c.26285T>G (p.Leu8762Arg)
c.26282T>G (p.Leu8761Arg)
c.26279T>G (p.Leu8760Arg)
c.*102T>G (n.*102T>G)
c.26435T>G (p.Leu8812Arg)
c.26423T>G (p.Leu8808Arg)
c.26273T>G (p.Leu8758Arg)
c.24713T>G (p.Leu8238Arg)
c.24206T>G (p.Leu8069Arg)
c.19673T>G (p.Leu6558Arg)
c.26411T>G (p.Leu8804Arg)
c.26360T>G (p.Leu8787Arg)
c.26324T>G (p.Leu8775Arg)
c.26171T>G (p.Leu8724Arg)
6g.152122539A>GCA366088812ESR1,SYNE1c.2825T>C (p.Leu942Pro)
c.26291T>C (p.Leu8764Pro)
c.26147T>C (p.Leu8716Pro)
c.1634T>C
c.2009T>C
c.1876T>C
c.2141T>C (n.2141T>C)
c.25076T>C (p.Leu8359Pro)
n.3039T>C
c.5067T>C (n.5067T>C)
n.9983T>C
c.4170T>C (n.4170T>C)
n.9875T>C
c.851-2727A>G (n.851-2727A>G)
n.2905T>C
n.6928T>C
c.2756T>C (p.Leu919Pro)
c.26438T>C (p.Leu8813Pro)
c.26426T>C (p.Leu8809Pro)
c.26417T>C (p.Leu8806Pro)
c.26396T>C (p.Leu8799Pro)
c.26387T>C (p.Leu8796Pro)
c.26381T>C (p.Leu8794Pro)
c.26369T>C (p.Leu8790Pro)
c.26366T>C (p.Leu8789Pro)
c.26327T>C (p.Leu8776Pro)
c.26312T>C (p.Leu8771Pro)
c.26297T>C (p.Leu8766Pro)
c.26285T>C (p.Leu8762Pro)
c.26282T>C (p.Leu8761Pro)
c.26279T>C (p.Leu8760Pro)
c.*102T>C (n.*102T>C)
c.26435T>C (p.Leu8812Pro)
c.26423T>C (p.Leu8808Pro)
c.26273T>C (p.Leu8758Pro)
c.24713T>C (p.Leu8238Pro)
c.24206T>C (p.Leu8069Pro)
c.19673T>C (p.Leu6558Pro)
c.26411T>C (p.Leu8804Pro)
c.26360T>C (p.Leu8787Pro)
c.26324T>C (p.Leu8775Pro)
c.26171T>C (p.Leu8724Pro)
6g.152122539A>TCA366088813ESR1,SYNE1c.2825T>A (p.Leu942His)
c.26291T>A (p.Leu8764His)
c.26147T>A (p.Leu8716His)
c.1634T>A
c.2009T>A
c.1876T>A
c.2141T>A (n.2141T>A)
c.25076T>A (p.Leu8359His)
n.3039T>A
c.5067T>A (n.5067T>A)
n.9983T>A
c.4170T>A (n.4170T>A)
n.9875T>A
c.851-2727A>T (n.851-2727A>T)
n.2905T>A
n.6928T>A
c.2756T>A (p.Leu919His)
c.26438T>A (p.Leu8813His)
c.26426T>A (p.Leu8809His)
c.26417T>A (p.Leu8806His)
c.26396T>A (p.Leu8799His)
c.26387T>A (p.Leu8796His)
c.26381T>A (p.Leu8794His)
c.26369T>A (p.Leu8790His)
c.26366T>A (p.Leu8789His)
c.26327T>A (p.Leu8776His)
c.26312T>A (p.Leu8771His)
c.26297T>A (p.Leu8766His)
c.26285T>A (p.Leu8762His)
c.26282T>A (p.Leu8761His)
c.26279T>A (p.Leu8760His)
c.*102T>A (n.*102T>A)
c.26435T>A (p.Leu8812His)
c.26423T>A (p.Leu8808His)
c.26273T>A (p.Leu8758His)
c.24713T>A (p.Leu8238His)
c.24206T>A (p.Leu8069His)
c.19673T>A (p.Leu6558His)
c.26411T>A (p.Leu8804His)
c.26360T>A (p.Leu8787His)
c.26324T>A (p.Leu8775His)
c.26171T>A (p.Leu8724His)
6g.152122540G>ACA366088816ESR1,SYNE1c.2824C>T (p.Leu942Phe)
c.26290C>T (p.Leu8764Phe)
c.26146C>T (p.Leu8716Phe)
c.1633C>T
c.2008C>T
c.1875C>T
c.2140C>T (n.2140C>T)
c.25075C>T (p.Leu8359Phe)
n.3038C>T
c.5066C>T (n.5066C>T)
n.9982C>T
c.4169C>T (n.4169C>T)
n.9874C>T
c.851-2726G>A (n.851-2726G>A)
n.2904C>T
n.6927C>T
c.2755C>T (p.Leu919Phe)
c.26437C>T (p.Leu8813Phe)
c.26425C>T (p.Leu8809Phe)
c.26416C>T (p.Leu8806Phe)
c.26395C>T (p.Leu8799Phe)
c.26386C>T (p.Leu8796Phe)
c.26380C>T (p.Leu8794Phe)
c.26368C>T (p.Leu8790Phe)
c.26365C>T (p.Leu8789Phe)
c.26326C>T (p.Leu8776Phe)
c.26311C>T (p.Leu8771Phe)
c.26296C>T (p.Leu8766Phe)
c.26284C>T (p.Leu8762Phe)
c.26281C>T (p.Leu8761Phe)
c.26278C>T (p.Leu8760Phe)
c.*101C>T (n.*101C>T)
c.26434C>T (p.Leu8812Phe)
c.26422C>T (p.Leu8808Phe)
c.26272C>T (p.Leu8758Phe)
c.24712C>T (p.Leu8238Phe)
c.24205C>T (p.Leu8069Phe)
c.19672C>T (p.Leu6558Phe)
c.26410C>T (p.Leu8804Phe)
c.26359C>T (p.Leu8787Phe)
c.26323C>T (p.Leu8775Phe)
c.26170C>T (p.Leu8724Phe)
 dbSNP gnomAD v3 gnomAD v4
6g.152122540G>CCA366088814ESR1,SYNE1c.2824C>G (p.Leu942Val)
c.26290C>G (p.Leu8764Val)
c.26146C>G (p.Leu8716Val)
c.1633C>G
c.2008C>G
c.1875C>G
c.2140C>G (n.2140C>G)
c.25075C>G (p.Leu8359Val)
n.3038C>G
c.5066C>G (n.5066C>G)
n.9982C>G
c.4169C>G (n.4169C>G)
n.9874C>G
c.851-2726G>C (n.851-2726G>C)
n.2904C>G
n.6927C>G
c.2755C>G (p.Leu919Val)
c.26437C>G (p.Leu8813Val)
c.26425C>G (p.Leu8809Val)
c.26416C>G (p.Leu8806Val)
c.26395C>G (p.Leu8799Val)
c.26386C>G (p.Leu8796Val)
c.26380C>G (p.Leu8794Val)
c.26368C>G (p.Leu8790Val)
c.26365C>G (p.Leu8789Val)
c.26326C>G (p.Leu8776Val)
c.26311C>G (p.Leu8771Val)
c.26296C>G (p.Leu8766Val)
c.26284C>G (p.Leu8762Val)
c.26281C>G (p.Leu8761Val)
c.26278C>G (p.Leu8760Val)
c.*101C>G (n.*101C>G)
c.26434C>G (p.Leu8812Val)
c.26422C>G (p.Leu8808Val)
c.26272C>G (p.Leu8758Val)
c.24712C>G (p.Leu8238Val)
c.24205C>G (p.Leu8069Val)
c.19672C>G (p.Leu6558Val)
c.26410C>G (p.Leu8804Val)
c.26359C>G (p.Leu8787Val)
c.26323C>G (p.Leu8775Val)
c.26170C>G (p.Leu8724Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152122540G=CA1673188958ESR1,SYNE1c.2824C= (p.Leu942=)
c.26290C= (p.Leu8764=)
c.26146C= (p.Leu8716=)
c.1633C=
c.2008C=
c.1875C=
c.2140C= (n.2140C=)
c.25075C= (p.Leu8359=)
n.3038C=
c.5066C= (n.5066C=)
n.9982C=
c.4169C= (n.4169C=)
n.9874C=
c.851-2726G= (n.851-2726G=)
n.2904C=
n.6927C=
c.2755C= (p.Leu919=)
c.26437C= (p.Leu8813=)
c.26425C= (p.Leu8809=)
c.26416C= (p.Leu8806=)
c.26395C= (p.Leu8799=)
c.26386C= (p.Leu8796=)
c.26380C= (p.Leu8794=)
c.26368C= (p.Leu8790=)
c.26365C= (p.Leu8789=)
c.26326C= (p.Leu8776=)
c.26311C= (p.Leu8771=)
c.26296C= (p.Leu8766=)
c.26284C= (p.Leu8762=)
c.26281C= (p.Leu8761=)
c.26278C= (p.Leu8760=)
c.*101C= (n.*101C=)
c.26434C= (p.Leu8812=)
c.26422C= (p.Leu8808=)
c.26272C= (p.Leu8758=)
c.24712C= (p.Leu8238=)
c.24205C= (p.Leu8069=)
c.19672C= (p.Leu6558=)
c.26410C= (p.Leu8804=)
c.26359C= (p.Leu8787=)
c.26323C= (p.Leu8775=)
c.26170C= (p.Leu8724=)
6g.152122540G>TCA366088815ESR1,SYNE1c.2824C>A (p.Leu942Ile)
c.26290C>A (p.Leu8764Ile)
c.26146C>A (p.Leu8716Ile)
c.1633C>A
c.2008C>A
c.1875C>A
c.2140C>A (n.2140C>A)
c.25075C>A (p.Leu8359Ile)
n.3038C>A
c.5066C>A (n.5066C>A)
n.9982C>A
c.4169C>A (n.4169C>A)
n.9874C>A
c.851-2726G>T (n.851-2726G>T)
n.2904C>A
n.6927C>A
c.2755C>A (p.Leu919Ile)
c.26437C>A (p.Leu8813Ile)
c.26425C>A (p.Leu8809Ile)
c.26416C>A (p.Leu8806Ile)
c.26395C>A (p.Leu8799Ile)
c.26386C>A (p.Leu8796Ile)
c.26380C>A (p.Leu8794Ile)
c.26368C>A (p.Leu8790Ile)
c.26365C>A (p.Leu8789Ile)
c.26326C>A (p.Leu8776Ile)
c.26311C>A (p.Leu8771Ile)
c.26296C>A (p.Leu8766Ile)
c.26284C>A (p.Leu8762Ile)
c.26281C>A (p.Leu8761Ile)
c.26278C>A (p.Leu8760Ile)
c.*101C>A (n.*101C>A)
c.26434C>A (p.Leu8812Ile)
c.26422C>A (p.Leu8808Ile)
c.26272C>A (p.Leu8758Ile)
c.24712C>A (p.Leu8238Ile)
c.24205C>A (p.Leu8069Ile)
c.19672C>A (p.Leu6558Ile)
c.26410C>A (p.Leu8804Ile)
c.26359C>A (p.Leu8787Ile)
c.26323C>A (p.Leu8775Ile)
c.26170C>A (p.Leu8724Ile)
6g.152122541G>ACA452969664ESR1,SYNE1c.2823C>T (p.Cys941=)
c.26289C>T (p.Cys8763=)
c.26145C>T (p.Cys8715=)
c.1632C>T
c.2007C>T
c.1874C>T
c.2139C>T (n.2139C>T)
c.25074C>T (p.Cys8358=)
n.3037C>T
c.5065C>T (n.5065C>T)
n.9981C>T
c.4168C>T (n.4168C>T)
n.9873C>T
c.851-2725G>A (n.851-2725G>A)
n.2903C>T
n.6926C>T
c.2754C>T (p.Cys918=)
c.26436C>T (p.Cys8812=)
c.26424C>T (p.Cys8808=)
c.26415C>T (p.Cys8805=)
c.26394C>T (p.Cys8798=)
c.26385C>T (p.Cys8795=)
c.26379C>T (p.Cys8793=)
c.26367C>T (p.Cys8789=)
c.26364C>T (p.Cys8788=)
c.26325C>T (p.Cys8775=)
c.26310C>T (p.Cys8770=)
c.26295C>T (p.Cys8765=)
c.26283C>T (p.Cys8761=)
c.26280C>T (p.Cys8760=)
c.26277C>T (p.Cys8759=)
c.*100C>T (n.*100C>T)
c.26433C>T (p.Cys8811=)
c.26421C>T (p.Cys8807=)
c.26271C>T (p.Cys8757=)
c.24711C>T (p.Cys8237=)
c.24204C>T (p.Cys8068=)
c.19671C>T (p.Cys6557=)
c.26409C>T (p.Cys8803=)
c.26358C>T (p.Cys8786=)
c.26322C>T (p.Cys8774=)
c.26169C>T (p.Cys8723=)
 gnomAD v4
6g.152122541G>CCA366088817ESR1,SYNE1c.2823C>G (p.Cys941Trp)
c.26289C>G (p.Cys8763Trp)
c.26145C>G (p.Cys8715Trp)
c.1632C>G
c.2007C>G
c.1874C>G
c.2139C>G (n.2139C>G)
c.25074C>G (p.Cys8358Trp)
n.3037C>G
c.5065C>G (n.5065C>G)
n.9981C>G
c.4168C>G (n.4168C>G)
n.9873C>G
c.851-2725G>C (n.851-2725G>C)
n.2903C>G
n.6926C>G
c.2754C>G (p.Cys918Trp)
c.26436C>G (p.Cys8812Trp)
c.26424C>G (p.Cys8808Trp)
c.26415C>G (p.Cys8805Trp)
c.26394C>G (p.Cys8798Trp)
c.26385C>G (p.Cys8795Trp)
c.26379C>G (p.Cys8793Trp)
c.26367C>G (p.Cys8789Trp)
c.26364C>G (p.Cys8788Trp)
c.26325C>G (p.Cys8775Trp)
c.26310C>G (p.Cys8770Trp)
c.26295C>G (p.Cys8765Trp)
c.26283C>G (p.Cys8761Trp)
c.26280C>G (p.Cys8760Trp)
c.26277C>G (p.Cys8759Trp)
c.*100C>G (n.*100C>G)
c.26433C>G (p.Cys8811Trp)
c.26421C>G (p.Cys8807Trp)
c.26271C>G (p.Cys8757Trp)
c.24711C>G (p.Cys8237Trp)
c.24204C>G (p.Cys8068Trp)
c.19671C>G (p.Cys6557Trp)
c.26409C>G (p.Cys8803Trp)
c.26358C>G (p.Cys8786Trp)
c.26322C>G (p.Cys8774Trp)
c.26169C>G (p.Cys8723Trp)
6g.152122541G>TCA366088818ESR1,SYNE1c.2823C>A (p.Cys941Ter)
c.26289C>A (p.Cys8763Ter)
c.26145C>A (p.Cys8715Ter)
c.1632C>A
c.2007C>A
c.1874C>A
c.2139C>A (n.2139C>A)
c.25074C>A (p.Cys8358Ter)
n.3037C>A
c.5065C>A (n.5065C>A)
n.9981C>A
c.4168C>A (n.4168C>A)
n.9873C>A
c.851-2725G>T (n.851-2725G>T)
n.2903C>A
n.6926C>A
c.2754C>A (p.Cys918Ter)
c.26436C>A (p.Cys8812Ter)
c.26424C>A (p.Cys8808Ter)
c.26415C>A (p.Cys8805Ter)
c.26394C>A (p.Cys8798Ter)
c.26385C>A (p.Cys8795Ter)
c.26379C>A (p.Cys8793Ter)
c.26367C>A (p.Cys8789Ter)
c.26364C>A (p.Cys8788Ter)
c.26325C>A (p.Cys8775Ter)
c.26310C>A (p.Cys8770Ter)
c.26295C>A (p.Cys8765Ter)
c.26283C>A (p.Cys8761Ter)
c.26280C>A (p.Cys8760Ter)
c.26277C>A (p.Cys8759Ter)
c.*100C>A (n.*100C>A)
c.26433C>A (p.Cys8811Ter)
c.26421C>A (p.Cys8807Ter)
c.26271C>A (p.Cys8757Ter)
c.24711C>A (p.Cys8237Ter)
c.24204C>A (p.Cys8068Ter)
c.19671C>A (p.Cys6557Ter)
c.26409C>A (p.Cys8803Ter)
c.26358C>A (p.Cys8786Ter)
c.26322C>A (p.Cys8774Ter)
c.26169C>A (p.Cys8723Ter)
6g.152122542C>ACA366088820ESR1,SYNE1c.2822G>T (p.Cys941Phe)
c.26288G>T (p.Cys8763Phe)
c.26144G>T (p.Cys8715Phe)
c.1631G>T
c.2006G>T
c.1873G>T
c.2138G>T (n.2138G>T)
c.25073G>T (p.Cys8358Phe)
n.3036G>T
c.5064G>T (n.5064G>T)
n.9980G>T
c.4167G>T (n.4167G>T)
n.9872G>T
c.851-2724C>A (n.851-2724C>A)
n.2902G>T
n.6925G>T
c.2753G>T (p.Cys918Phe)
c.26435G>T (p.Cys8812Phe)
c.26423G>T (p.Cys8808Phe)
c.26414G>T (p.Cys8805Phe)
c.26393G>T (p.Cys8798Phe)
c.26384G>T (p.Cys8795Phe)
c.26378G>T (p.Cys8793Phe)
c.26366G>T (p.Cys8789Phe)
c.26363G>T (p.Cys8788Phe)
c.26324G>T (p.Cys8775Phe)
c.26309G>T (p.Cys8770Phe)
c.26294G>T (p.Cys8765Phe)
c.26282G>T (p.Cys8761Phe)
c.26279G>T (p.Cys8760Phe)
c.26276G>T (p.Cys8759Phe)
c.*99G>T (n.*99G>T)
c.26432G>T (p.Cys8811Phe)
c.26420G>T (p.Cys8807Phe)
c.26270G>T (p.Cys8757Phe)
c.24710G>T (p.Cys8237Phe)
c.24203G>T (p.Cys8068Phe)
c.19670G>T (p.Cys6557Phe)
c.26408G>T (p.Cys8803Phe)
c.26357G>T (p.Cys8786Phe)
c.26321G>T (p.Cys8774Phe)
c.26168G>T (p.Cys8723Phe)
6g.152122542C=CA1673188962ESR1,SYNE1c.2822G= (p.Cys941=)
c.26288G= (p.Cys8763=)
c.26144G= (p.Cys8715=)
c.1631G=
c.2006G=
c.1873G=
c.2138G= (n.2138G=)
c.25073G= (p.Cys8358=)
n.3036G=
c.5064G= (n.5064G=)
n.9980G=
c.4167G= (n.4167G=)
n.9872G=
c.851-2724C= (n.851-2724C=)
n.2902G=
n.6925G=
c.2753G= (p.Cys918=)
c.26435G= (p.Cys8812=)
c.26423G= (p.Cys8808=)
c.26414G= (p.Cys8805=)
c.26393G= (p.Cys8798=)
c.26384G= (p.Cys8795=)
c.26378G= (p.Cys8793=)
c.26366G= (p.Cys8789=)
c.26363G= (p.Cys8788=)
c.26324G= (p.Cys8775=)
c.26309G= (p.Cys8770=)
c.26294G= (p.Cys8765=)
c.26282G= (p.Cys8761=)
c.26279G= (p.Cys8760=)
c.26276G= (p.Cys8759=)
c.*99G= (n.*99G=)
c.26432G= (p.Cys8811=)
c.26420G= (p.Cys8807=)
c.26270G= (p.Cys8757=)
c.24710G= (p.Cys8237=)
c.24203G= (p.Cys8068=)
c.19670G= (p.Cys6557=)
c.26408G= (p.Cys8803=)
c.26357G= (p.Cys8786=)
c.26321G= (p.Cys8774=)
c.26168G= (p.Cys8723=)
6g.152122542C>GCA366088822ESR1,SYNE1c.2822G>C (p.Cys941Ser)
c.26288G>C (p.Cys8763Ser)
c.26144G>C (p.Cys8715Ser)
c.1631G>C
c.2006G>C
c.1873G>C
c.2138G>C (n.2138G>C)
c.25073G>C (p.Cys8358Ser)
n.3036G>C
c.5064G>C (n.5064G>C)
n.9980G>C
c.4167G>C (n.4167G>C)
n.9872G>C
c.851-2724C>G (n.851-2724C>G)
n.2902G>C
n.6925G>C
c.2753G>C (p.Cys918Ser)
c.26435G>C (p.Cys8812Ser)
c.26423G>C (p.Cys8808Ser)
c.26414G>C (p.Cys8805Ser)
c.26393G>C (p.Cys8798Ser)
c.26384G>C (p.Cys8795Ser)
c.26378G>C (p.Cys8793Ser)
c.26366G>C (p.Cys8789Ser)
c.26363G>C (p.Cys8788Ser)
c.26324G>C (p.Cys8775Ser)
c.26309G>C (p.Cys8770Ser)
c.26294G>C (p.Cys8765Ser)
c.26282G>C (p.Cys8761Ser)
c.26279G>C (p.Cys8760Ser)
c.26276G>C (p.Cys8759Ser)
c.*99G>C (n.*99G>C)
c.26432G>C (p.Cys8811Ser)
c.26420G>C (p.Cys8807Ser)
c.26270G>C (p.Cys8757Ser)
c.24710G>C (p.Cys8237Ser)
c.24203G>C (p.Cys8068Ser)
c.19670G>C (p.Cys6557Ser)
c.26408G>C (p.Cys8803Ser)
c.26357G>C (p.Cys8786Ser)
c.26321G>C (p.Cys8774Ser)
c.26168G>C (p.Cys8723Ser)
6g.152122542C>TCA4052592ESR1,SYNE1c.2822G>A (p.Cys941Tyr)
c.26288G>A (p.Cys8763Tyr)
c.26144G>A (p.Cys8715Tyr)
c.1631G>A
c.2006G>A
c.1873G>A
c.2138G>A (n.2138G>A)
c.25073G>A (p.Cys8358Tyr)
n.3036G>A
c.5064G>A (n.5064G>A)
n.9980G>A
c.4167G>A (n.4167G>A)
n.9872G>A
c.851-2724C>T (n.851-2724C>T)
n.2902G>A
n.6925G>A
c.2753G>A (p.Cys918Tyr)
c.26435G>A (p.Cys8812Tyr)
c.26423G>A (p.Cys8808Tyr)
c.26414G>A (p.Cys8805Tyr)
c.26393G>A (p.Cys8798Tyr)
c.26384G>A (p.Cys8795Tyr)
c.26378G>A (p.Cys8793Tyr)
c.26366G>A (p.Cys8789Tyr)
c.26363G>A (p.Cys8788Tyr)
c.26324G>A (p.Cys8775Tyr)
c.26309G>A (p.Cys8770Tyr)
c.26294G>A (p.Cys8765Tyr)
c.26282G>A (p.Cys8761Tyr)
c.26279G>A (p.Cys8760Tyr)
c.26276G>A (p.Cys8759Tyr)
c.*99G>A (n.*99G>A)
c.26432G>A (p.Cys8811Tyr)
c.26420G>A (p.Cys8807Tyr)
c.26270G>A (p.Cys8757Tyr)
c.24710G>A (p.Cys8237Tyr)
c.24203G>A (p.Cys8068Tyr)
c.19670G>A (p.Cys6557Tyr)
c.26408G>A (p.Cys8803Tyr)
c.26357G>A (p.Cys8786Tyr)
c.26321G>A (p.Cys8774Tyr)
c.26168G>A (p.Cys8723Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122543A>CCA366088824ESR1,SYNE1c.2821T>G (p.Cys941Gly)
c.26287T>G (p.Cys8763Gly)
c.26143T>G (p.Cys8715Gly)
c.1630T>G
c.2005T>G
c.1872T>G
c.2137T>G (n.2137T>G)
c.25072T>G (p.Cys8358Gly)
n.3035T>G
c.5063T>G (n.5063T>G)
n.9979T>G
c.4166T>G (n.4166T>G)
n.9871T>G
c.851-2723A>C (n.851-2723A>C)
n.2901T>G
n.6924T>G
c.2752T>G (p.Cys918Gly)
c.26434T>G (p.Cys8812Gly)
c.26422T>G (p.Cys8808Gly)
c.26413T>G (p.Cys8805Gly)
c.26392T>G (p.Cys8798Gly)
c.26383T>G (p.Cys8795Gly)
c.26377T>G (p.Cys8793Gly)
c.26365T>G (p.Cys8789Gly)
c.26362T>G (p.Cys8788Gly)
c.26323T>G (p.Cys8775Gly)
c.26308T>G (p.Cys8770Gly)
c.26293T>G (p.Cys8765Gly)
c.26281T>G (p.Cys8761Gly)
c.26278T>G (p.Cys8760Gly)
c.26275T>G (p.Cys8759Gly)
c.*98T>G (n.*98T>G)
c.26431T>G (p.Cys8811Gly)
c.26419T>G (p.Cys8807Gly)
c.26269T>G (p.Cys8757Gly)
c.24709T>G (p.Cys8237Gly)
c.24202T>G (p.Cys8068Gly)
c.19669T>G (p.Cys6557Gly)
c.26407T>G (p.Cys8803Gly)
c.26356T>G (p.Cys8786Gly)
c.26320T>G (p.Cys8774Gly)
c.26167T>G (p.Cys8723Gly)
6g.152122543A>GCA366088828ESR1,SYNE1c.2821T>C (p.Cys941Arg)
c.26287T>C (p.Cys8763Arg)
c.26143T>C (p.Cys8715Arg)
c.1630T>C
c.2005T>C
c.1872T>C
c.2137T>C (n.2137T>C)
c.25072T>C (p.Cys8358Arg)
n.3035T>C
c.5063T>C (n.5063T>C)
n.9979T>C
c.4166T>C (n.4166T>C)
n.9871T>C
c.851-2723A>G (n.851-2723A>G)
n.2901T>C
n.6924T>C
c.2752T>C (p.Cys918Arg)
c.26434T>C (p.Cys8812Arg)
c.26422T>C (p.Cys8808Arg)
c.26413T>C (p.Cys8805Arg)
c.26392T>C (p.Cys8798Arg)
c.26383T>C (p.Cys8795Arg)
c.26377T>C (p.Cys8793Arg)
c.26365T>C (p.Cys8789Arg)
c.26362T>C (p.Cys8788Arg)
c.26323T>C (p.Cys8775Arg)
c.26308T>C (p.Cys8770Arg)
c.26293T>C (p.Cys8765Arg)
c.26281T>C (p.Cys8761Arg)
c.26278T>C (p.Cys8760Arg)
c.26275T>C (p.Cys8759Arg)
c.*98T>C (n.*98T>C)
c.26431T>C (p.Cys8811Arg)
c.26419T>C (p.Cys8807Arg)
c.26269T>C (p.Cys8757Arg)
c.24709T>C (p.Cys8237Arg)
c.24202T>C (p.Cys8068Arg)
c.19669T>C (p.Cys6557Arg)
c.26407T>C (p.Cys8803Arg)
c.26356T>C (p.Cys8786Arg)
c.26320T>C (p.Cys8774Arg)
c.26167T>C (p.Cys8723Arg)
6g.152122543A>TCA366088827ESR1,SYNE1c.2821T>A (p.Cys941Ser)
c.26287T>A (p.Cys8763Ser)
c.26143T>A (p.Cys8715Ser)
c.1630T>A
c.2005T>A
c.1872T>A
c.2137T>A (n.2137T>A)
c.25072T>A (p.Cys8358Ser)
n.3035T>A
c.5063T>A (n.5063T>A)
n.9979T>A
c.4166T>A (n.4166T>A)
n.9871T>A
c.851-2723A>T (n.851-2723A>T)
n.2901T>A
n.6924T>A
c.2752T>A (p.Cys918Ser)
c.26434T>A (p.Cys8812Ser)
c.26422T>A (p.Cys8808Ser)
c.26413T>A (p.Cys8805Ser)
c.26392T>A (p.Cys8798Ser)
c.26383T>A (p.Cys8795Ser)
c.26377T>A (p.Cys8793Ser)
c.26365T>A (p.Cys8789Ser)
c.26362T>A (p.Cys8788Ser)
c.26323T>A (p.Cys8775Ser)
c.26308T>A (p.Cys8770Ser)
c.26293T>A (p.Cys8765Ser)
c.26281T>A (p.Cys8761Ser)
c.26278T>A (p.Cys8760Ser)
c.26275T>A (p.Cys8759Ser)
c.*98T>A (n.*98T>A)
c.26431T>A (p.Cys8811Ser)
c.26419T>A (p.Cys8807Ser)
c.26269T>A (p.Cys8757Ser)
c.24709T>A (p.Cys8237Ser)
c.24202T>A (p.Cys8068Ser)
c.19669T>A (p.Cys6557Ser)
c.26407T>A (p.Cys8803Ser)
c.26356T>A (p.Cys8786Ser)
c.26320T>A (p.Cys8774Ser)
c.26167T>A (p.Cys8723Ser)
6g.152122544G>ACA452969671ESR1,SYNE1c.2820C>T (p.Ala940=)
c.26286C>T (p.Ala8762=)
c.26142C>T (p.Ala8714=)
c.1629C>T
c.2004C>T
c.1871C>T
c.2136C>T (n.2136C>T)
c.25071C>T (p.Ala8357=)
n.3034C>T
c.5062C>T (n.5062C>T)
n.9978C>T
c.4165C>T (n.4165C>T)
n.9870C>T
c.851-2722G>A (n.851-2722G>A)
n.2900C>T
n.6923C>T
c.2751C>T (p.Ala917=)
c.26433C>T (p.Ala8811=)
c.26421C>T (p.Ala8807=)
c.26412C>T (p.Ala8804=)
c.26391C>T (p.Ala8797=)
c.26382C>T (p.Ala8794=)
c.26376C>T (p.Ala8792=)
c.26364C>T (p.Ala8788=)
c.26361C>T (p.Ala8787=)
c.26322C>T (p.Ala8774=)
c.26307C>T (p.Ala8769=)
c.26292C>T (p.Ala8764=)
c.26280C>T (p.Ala8760=)
c.26277C>T (p.Ala8759=)
c.26274C>T (p.Ala8758=)
c.*97C>T (n.*97C>T)
c.26430C>T (p.Ala8810=)
c.26418C>T (p.Ala8806=)
c.26268C>T (p.Ala8756=)
c.24708C>T (p.Ala8236=)
c.24201C>T (p.Ala8067=)
c.19668C>T (p.Ala6556=)
c.26406C>T (p.Ala8802=)
c.26355C>T (p.Ala8785=)
c.26319C>T (p.Ala8773=)
c.26166C>T (p.Ala8722=)
6g.152122544G>CCA452969674ESR1,SYNE1c.2820C>G (p.Ala940=)
c.26286C>G (p.Ala8762=)
c.26142C>G (p.Ala8714=)
c.1629C>G
c.2004C>G
c.1871C>G
c.2136C>G (n.2136C>G)
c.25071C>G (p.Ala8357=)
n.3034C>G
c.5062C>G (n.5062C>G)
n.9978C>G
c.4165C>G (n.4165C>G)
n.9870C>G
c.851-2722G>C (n.851-2722G>C)
n.2900C>G
n.6923C>G
c.2751C>G (p.Ala917=)
c.26433C>G (p.Ala8811=)
c.26421C>G (p.Ala8807=)
c.26412C>G (p.Ala8804=)
c.26391C>G (p.Ala8797=)
c.26382C>G (p.Ala8794=)
c.26376C>G (p.Ala8792=)
c.26364C>G (p.Ala8788=)
c.26361C>G (p.Ala8787=)
c.26322C>G (p.Ala8774=)
c.26307C>G (p.Ala8769=)
c.26292C>G (p.Ala8764=)
c.26280C>G (p.Ala8760=)
c.26277C>G (p.Ala8759=)
c.26274C>G (p.Ala8758=)
c.*97C>G (n.*97C>G)
c.26430C>G (p.Ala8810=)
c.26418C>G (p.Ala8806=)
c.26268C>G (p.Ala8756=)
c.24708C>G (p.Ala8236=)
c.24201C>G (p.Ala8067=)
c.19668C>G (p.Ala6556=)
c.26406C>G (p.Ala8802=)
c.26355C>G (p.Ala8785=)
c.26319C>G (p.Ala8773=)
c.26166C>G (p.Ala8722=)
6g.152122544G>TCA452969673ESR1,SYNE1c.2820C>A (p.Ala940=)
c.26286C>A (p.Ala8762=)
c.26142C>A (p.Ala8714=)
c.1629C>A
c.2004C>A
c.1871C>A
c.2136C>A (n.2136C>A)
c.25071C>A (p.Ala8357=)
n.3034C>A
c.5062C>A (n.5062C>A)
n.9978C>A
c.4165C>A (n.4165C>A)
n.9870C>A
c.851-2722G>T (n.851-2722G>T)
n.2900C>A
n.6923C>A
c.2751C>A (p.Ala917=)
c.26433C>A (p.Ala8811=)
c.26421C>A (p.Ala8807=)
c.26412C>A (p.Ala8804=)
c.26391C>A (p.Ala8797=)
c.26382C>A (p.Ala8794=)
c.26376C>A (p.Ala8792=)
c.26364C>A (p.Ala8788=)
c.26361C>A (p.Ala8787=)
c.26322C>A (p.Ala8774=)
c.26307C>A (p.Ala8769=)
c.26292C>A (p.Ala8764=)
c.26280C>A (p.Ala8760=)
c.26277C>A (p.Ala8759=)
c.26274C>A (p.Ala8758=)
c.*97C>A (n.*97C>A)
c.26430C>A (p.Ala8810=)
c.26418C>A (p.Ala8806=)
c.26268C>A (p.Ala8756=)
c.24708C>A (p.Ala8236=)
c.24201C>A (p.Ala8067=)
c.19668C>A (p.Ala6556=)
c.26406C>A (p.Ala8802=)
c.26355C>A (p.Ala8785=)
c.26319C>A (p.Ala8773=)
c.26166C>A (p.Ala8722=)
6g.152122545G>ACA150189518ESR1,SYNE1c.2819C>T (p.Ala940Val)
c.26285C>T (p.Ala8762Val)
c.26141C>T (p.Ala8714Val)
c.1628C>T
c.2003C>T
c.1870C>T
c.2135C>T (n.2135C>T)
c.25070C>T (p.Ala8357Val)
n.3033C>T
c.5061C>T (n.5061C>T)
n.9977C>T
c.4164C>T (n.4164C>T)
n.9869C>T
c.851-2721G>A (n.851-2721G>A)
n.2899C>T
n.6922C>T
c.2750C>T (p.Ala917Val)
c.26432C>T (p.Ala8811Val)
c.26420C>T (p.Ala8807Val)
c.26411C>T (p.Ala8804Val)
c.26390C>T (p.Ala8797Val)
c.26381C>T (p.Ala8794Val)
c.26375C>T (p.Ala8792Val)
c.26363C>T (p.Ala8788Val)
c.26360C>T (p.Ala8787Val)
c.26321C>T (p.Ala8774Val)
c.26306C>T (p.Ala8769Val)
c.26291C>T (p.Ala8764Val)
c.26279C>T (p.Ala8760Val)
c.26276C>T (p.Ala8759Val)
c.26273C>T (p.Ala8758Val)
c.*96C>T (n.*96C>T)
c.26429C>T (p.Ala8810Val)
c.26417C>T (p.Ala8806Val)
c.26267C>T (p.Ala8756Val)
c.24707C>T (p.Ala8236Val)
c.24200C>T (p.Ala8067Val)
c.19667C>T (p.Ala6556Val)
c.26405C>T (p.Ala8802Val)
c.26354C>T (p.Ala8785Val)
c.26318C>T (p.Ala8773Val)
c.26165C>T (p.Ala8722Val)
 ClinVar dbSNP
6g.152122545G>CCA366088831ESR1,SYNE1c.2819C>G (p.Ala940Gly)
c.26285C>G (p.Ala8762Gly)
c.26141C>G (p.Ala8714Gly)
c.1628C>G
c.2003C>G
c.1870C>G
c.2135C>G (n.2135C>G)
c.25070C>G (p.Ala8357Gly)
n.3033C>G
c.5061C>G (n.5061C>G)
n.9977C>G
c.4164C>G (n.4164C>G)
n.9869C>G
c.851-2721G>C (n.851-2721G>C)
n.2899C>G
n.6922C>G
c.2750C>G (p.Ala917Gly)
c.26432C>G (p.Ala8811Gly)
c.26420C>G (p.Ala8807Gly)
c.26411C>G (p.Ala8804Gly)
c.26390C>G (p.Ala8797Gly)
c.26381C>G (p.Ala8794Gly)
c.26375C>G (p.Ala8792Gly)
c.26363C>G (p.Ala8788Gly)
c.26360C>G (p.Ala8787Gly)
c.26321C>G (p.Ala8774Gly)
c.26306C>G (p.Ala8769Gly)
c.26291C>G (p.Ala8764Gly)
c.26279C>G (p.Ala8760Gly)
c.26276C>G (p.Ala8759Gly)
c.26273C>G (p.Ala8758Gly)
c.*96C>G (n.*96C>G)
c.26429C>G (p.Ala8810Gly)
c.26417C>G (p.Ala8806Gly)
c.26267C>G (p.Ala8756Gly)
c.24707C>G (p.Ala8236Gly)
c.24200C>G (p.Ala8067Gly)
c.19667C>G (p.Ala6556Gly)
c.26405C>G (p.Ala8802Gly)
c.26354C>G (p.Ala8785Gly)
c.26318C>G (p.Ala8773Gly)
c.26165C>G (p.Ala8722Gly)
6g.152122545G=CA1673188966ESR1,SYNE1c.2819C= (p.Ala940=)
c.26285C= (p.Ala8762=)
c.26141C= (p.Ala8714=)
c.1628C=
c.2003C=
c.1870C=
c.2135C= (n.2135C=)
c.25070C= (p.Ala8357=)
n.3033C=
c.5061C= (n.5061C=)
n.9977C=
c.4164C= (n.4164C=)
n.9869C=
c.851-2721G= (n.851-2721G=)
n.2899C=
n.6922C=
c.2750C= (p.Ala917=)
c.26432C= (p.Ala8811=)
c.26420C= (p.Ala8807=)
c.26411C= (p.Ala8804=)
c.26390C= (p.Ala8797=)
c.26381C= (p.Ala8794=)
c.26375C= (p.Ala8792=)
c.26363C= (p.Ala8788=)
c.26360C= (p.Ala8787=)
c.26321C= (p.Ala8774=)
c.26306C= (p.Ala8769=)
c.26291C= (p.Ala8764=)
c.26279C= (p.Ala8760=)
c.26276C= (p.Ala8759=)
c.26273C= (p.Ala8758=)
c.*96C= (n.*96C=)
c.26429C= (p.Ala8810=)
c.26417C= (p.Ala8806=)
c.26267C= (p.Ala8756=)
c.24707C= (p.Ala8236=)
c.24200C= (p.Ala8067=)
c.19667C= (p.Ala6556=)
c.26405C= (p.Ala8802=)
c.26354C= (p.Ala8785=)
c.26318C= (p.Ala8773=)
c.26165C= (p.Ala8722=)
6g.152122545G>TCA366088833ESR1,SYNE1c.2819C>A (p.Ala940Asp)
c.26285C>A (p.Ala8762Asp)
c.26141C>A (p.Ala8714Asp)
c.1628C>A
c.2003C>A
c.1870C>A
c.2135C>A (n.2135C>A)
c.25070C>A (p.Ala8357Asp)
n.3033C>A
c.5061C>A (n.5061C>A)
n.9977C>A
c.4164C>A (n.4164C>A)
n.9869C>A
c.851-2721G>T (n.851-2721G>T)
n.2899C>A
n.6922C>A
c.2750C>A (p.Ala917Asp)
c.26432C>A (p.Ala8811Asp)
c.26420C>A (p.Ala8807Asp)
c.26411C>A (p.Ala8804Asp)
c.26390C>A (p.Ala8797Asp)
c.26381C>A (p.Ala8794Asp)
c.26375C>A (p.Ala8792Asp)
c.26363C>A (p.Ala8788Asp)
c.26360C>A (p.Ala8787Asp)
c.26321C>A (p.Ala8774Asp)
c.26306C>A (p.Ala8769Asp)
c.26291C>A (p.Ala8764Asp)
c.26279C>A (p.Ala8760Asp)
c.26276C>A (p.Ala8759Asp)
c.26273C>A (p.Ala8758Asp)
c.*96C>A (n.*96C>A)
c.26429C>A (p.Ala8810Asp)
c.26417C>A (p.Ala8806Asp)
c.26267C>A (p.Ala8756Asp)
c.24707C>A (p.Ala8236Asp)
c.24200C>A (p.Ala8067Asp)
c.19667C>A (p.Ala6556Asp)
c.26405C>A (p.Ala8802Asp)
c.26354C>A (p.Ala8785Asp)
c.26318C>A (p.Ala8773Asp)
c.26165C>A (p.Ala8722Asp)
6g.152122546C>ACA366088834ESR1,SYNE1c.2818G>T (p.Ala940Ser)
c.26284G>T (p.Ala8762Ser)
c.26140G>T (p.Ala8714Ser)
c.1627G>T
c.2002G>T
c.1869G>T
c.2134G>T (n.2134G>T)
c.25069G>T (p.Ala8357Ser)
n.3032G>T
c.5060G>T (n.5060G>T)
n.9976G>T
c.4163G>T (n.4163G>T)
n.9868G>T
c.851-2720C>A (n.851-2720C>A)
n.2898G>T
n.6921G>T
c.2749G>T (p.Ala917Ser)
c.26431G>T (p.Ala8811Ser)
c.26419G>T (p.Ala8807Ser)
c.26410G>T (p.Ala8804Ser)
c.26389G>T (p.Ala8797Ser)
c.26380G>T (p.Ala8794Ser)
c.26374G>T (p.Ala8792Ser)
c.26362G>T (p.Ala8788Ser)
c.26359G>T (p.Ala8787Ser)
c.26320G>T (p.Ala8774Ser)
c.26305G>T (p.Ala8769Ser)
c.26290G>T (p.Ala8764Ser)
c.26278G>T (p.Ala8760Ser)
c.26275G>T (p.Ala8759Ser)
c.26272G>T (p.Ala8758Ser)
c.*95G>T (n.*95G>T)
c.26428G>T (p.Ala8810Ser)
c.26416G>T (p.Ala8806Ser)
c.26266G>T (p.Ala8756Ser)
c.24706G>T (p.Ala8236Ser)
c.24199G>T (p.Ala8067Ser)
c.19666G>T (p.Ala6556Ser)
c.26404G>T (p.Ala8802Ser)
c.26353G>T (p.Ala8785Ser)
c.26317G>T (p.Ala8773Ser)
c.26164G>T (p.Ala8722Ser)
6g.152122546C>GCA366088836ESR1,SYNE1c.2818G>C (p.Ala940Pro)
c.26284G>C (p.Ala8762Pro)
c.26140G>C (p.Ala8714Pro)
c.1627G>C
c.2002G>C
c.1869G>C
c.2134G>C (n.2134G>C)
c.25069G>C (p.Ala8357Pro)
n.3032G>C
c.5060G>C (n.5060G>C)
n.9976G>C
c.4163G>C (n.4163G>C)
n.9868G>C
c.851-2720C>G (n.851-2720C>G)
n.2898G>C
n.6921G>C
c.2749G>C (p.Ala917Pro)
c.26431G>C (p.Ala8811Pro)
c.26419G>C (p.Ala8807Pro)
c.26410G>C (p.Ala8804Pro)
c.26389G>C (p.Ala8797Pro)
c.26380G>C (p.Ala8794Pro)
c.26374G>C (p.Ala8792Pro)
c.26362G>C (p.Ala8788Pro)
c.26359G>C (p.Ala8787Pro)
c.26320G>C (p.Ala8774Pro)
c.26305G>C (p.Ala8769Pro)
c.26290G>C (p.Ala8764Pro)
c.26278G>C (p.Ala8760Pro)
c.26275G>C (p.Ala8759Pro)
c.26272G>C (p.Ala8758Pro)
c.*95G>C (n.*95G>C)
c.26428G>C (p.Ala8810Pro)
c.26416G>C (p.Ala8806Pro)
c.26266G>C (p.Ala8756Pro)
c.24706G>C (p.Ala8236Pro)
c.24199G>C (p.Ala8067Pro)
c.19666G>C (p.Ala6556Pro)
c.26404G>C (p.Ala8802Pro)
c.26353G>C (p.Ala8785Pro)
c.26317G>C (p.Ala8773Pro)
c.26164G>C (p.Ala8722Pro)
 gnomAD v4
6g.152122546C>TCA366088837ESR1,SYNE1c.2818G>A (p.Ala940Thr)
c.26284G>A (p.Ala8762Thr)
c.26140G>A (p.Ala8714Thr)
c.1627G>A
c.2002G>A
c.1869G>A
c.2134G>A (n.2134G>A)
c.25069G>A (p.Ala8357Thr)
n.3032G>A
c.5060G>A (n.5060G>A)
n.9976G>A
c.4163G>A (n.4163G>A)
n.9868G>A
c.851-2720C>T (n.851-2720C>T)
n.2898G>A
n.6921G>A
c.2749G>A (p.Ala917Thr)
c.26431G>A (p.Ala8811Thr)
c.26419G>A (p.Ala8807Thr)
c.26410G>A (p.Ala8804Thr)
c.26389G>A (p.Ala8797Thr)
c.26380G>A (p.Ala8794Thr)
c.26374G>A (p.Ala8792Thr)
c.26362G>A (p.Ala8788Thr)
c.26359G>A (p.Ala8787Thr)
c.26320G>A (p.Ala8774Thr)
c.26305G>A (p.Ala8769Thr)
c.26290G>A (p.Ala8764Thr)
c.26278G>A (p.Ala8760Thr)
c.26275G>A (p.Ala8759Thr)
c.26272G>A (p.Ala8758Thr)
c.*95G>A (n.*95G>A)
c.26428G>A (p.Ala8810Thr)
c.26416G>A (p.Ala8806Thr)
c.26266G>A (p.Ala8756Thr)
c.24706G>A (p.Ala8236Thr)
c.24199G>A (p.Ala8067Thr)
c.19666G>A (p.Ala6556Thr)
c.26404G>A (p.Ala8802Thr)
c.26353G>A (p.Ala8785Thr)
c.26317G>A (p.Ala8773Thr)
c.26164G>A (p.Ala8722Thr)
6g.152122547A>CCA452969683ESR1,SYNE1c.2817T>G (p.Leu939=)
c.26283T>G (p.Leu8761=)
c.26139T>G (p.Leu8713=)
c.1626T>G
c.2001T>G
c.1868T>G
c.2133T>G (n.2133T>G)
c.25068T>G (p.Leu8356=)
n.3031T>G
c.5059T>G (n.5059T>G)
n.9975T>G
c.4162T>G (n.4162T>G)
n.9867T>G
c.851-2719A>C (n.851-2719A>C)
n.2897T>G
n.6920T>G
c.2748T>G (p.Leu916=)
c.26430T>G (p.Leu8810=)
c.26418T>G (p.Leu8806=)
c.26409T>G (p.Leu8803=)
c.26388T>G (p.Leu8796=)
c.26379T>G (p.Leu8793=)
c.26373T>G (p.Leu8791=)
c.26361T>G (p.Leu8787=)
c.26358T>G (p.Leu8786=)
c.26319T>G (p.Leu8773=)
c.26304T>G (p.Leu8768=)
c.26289T>G (p.Leu8763=)
c.26277T>G (p.Leu8759=)
c.26274T>G (p.Leu8758=)
c.26271T>G (p.Leu8757=)
c.*94T>G (n.*94T>G)
c.26427T>G (p.Leu8809=)
c.26415T>G (p.Leu8805=)
c.26265T>G (p.Leu8755=)
c.24705T>G (p.Leu8235=)
c.24198T>G (p.Leu8066=)
c.19665T>G (p.Leu6555=)
c.26403T>G (p.Leu8801=)
c.26352T>G (p.Leu8784=)
c.26316T>G (p.Leu8772=)
c.26163T>G (p.Leu8721=)
6g.152122547A>GCA452969682ESR1,SYNE1c.2817T>C (p.Leu939=)
c.26283T>C (p.Leu8761=)
c.26139T>C (p.Leu8713=)
c.1626T>C
c.2001T>C
c.1868T>C
c.2133T>C (n.2133T>C)
c.25068T>C (p.Leu8356=)
n.3031T>C
c.5059T>C (n.5059T>C)
n.9975T>C
c.4162T>C (n.4162T>C)
n.9867T>C
c.851-2719A>G (n.851-2719A>G)
n.2897T>C
n.6920T>C
c.2748T>C (p.Leu916=)
c.26430T>C (p.Leu8810=)
c.26418T>C (p.Leu8806=)
c.26409T>C (p.Leu8803=)
c.26388T>C (p.Leu8796=)
c.26379T>C (p.Leu8793=)
c.26373T>C (p.Leu8791=)
c.26361T>C (p.Leu8787=)
c.26358T>C (p.Leu8786=)
c.26319T>C (p.Leu8773=)
c.26304T>C (p.Leu8768=)
c.26289T>C (p.Leu8763=)
c.26277T>C (p.Leu8759=)
c.26274T>C (p.Leu8758=)
c.26271T>C (p.Leu8757=)
c.*94T>C (n.*94T>C)
c.26427T>C (p.Leu8809=)
c.26415T>C (p.Leu8805=)
c.26265T>C (p.Leu8755=)
c.24705T>C (p.Leu8235=)
c.24198T>C (p.Leu8066=)
c.19665T>C (p.Leu6555=)
c.26403T>C (p.Leu8801=)
c.26352T>C (p.Leu8784=)
c.26316T>C (p.Leu8772=)
c.26163T>C (p.Leu8721=)
6g.152122547A>TCA452969681ESR1,SYNE1c.2817T>A (p.Leu939=)
c.26283T>A (p.Leu8761=)
c.26139T>A (p.Leu8713=)
c.1626T>A
c.2001T>A
c.1868T>A
c.2133T>A (n.2133T>A)
c.25068T>A (p.Leu8356=)
n.3031T>A
c.5059T>A (n.5059T>A)
n.9975T>A
c.4162T>A (n.4162T>A)
n.9867T>A
c.851-2719A>T (n.851-2719A>T)
n.2897T>A
n.6920T>A
c.2748T>A (p.Leu916=)
c.26430T>A (p.Leu8810=)
c.26418T>A (p.Leu8806=)
c.26409T>A (p.Leu8803=)
c.26388T>A (p.Leu8796=)
c.26379T>A (p.Leu8793=)
c.26373T>A (p.Leu8791=)
c.26361T>A (p.Leu8787=)
c.26358T>A (p.Leu8786=)
c.26319T>A (p.Leu8773=)
c.26304T>A (p.Leu8768=)
c.26289T>A (p.Leu8763=)
c.26277T>A (p.Leu8759=)
c.26274T>A (p.Leu8758=)
c.26271T>A (p.Leu8757=)
c.*94T>A (n.*94T>A)
c.26427T>A (p.Leu8809=)
c.26415T>A (p.Leu8805=)
c.26265T>A (p.Leu8755=)
c.24705T>A (p.Leu8235=)
c.24198T>A (p.Leu8066=)
c.19665T>A (p.Leu6555=)
c.26403T>A (p.Leu8801=)
c.26352T>A (p.Leu8784=)
c.26316T>A (p.Leu8772=)
c.26163T>A (p.Leu8721=)
6g.152122548A>CCA366088838ESR1,SYNE1c.2816T>G (p.Leu939Arg)
c.26282T>G (p.Leu8761Arg)
c.26138T>G (p.Leu8713Arg)
c.1625T>G
c.2000T>G
c.1867T>G
c.2132T>G (n.2132T>G)
c.25067T>G (p.Leu8356Arg)
n.3030T>G
c.5058T>G (n.5058T>G)
n.9974T>G
c.4161T>G (n.4161T>G)
n.9866T>G
c.851-2718A>C (n.851-2718A>C)
n.2896T>G
n.6919T>G
c.2747T>G (p.Leu916Arg)
c.26429T>G (p.Leu8810Arg)
c.26417T>G (p.Leu8806Arg)
c.26408T>G (p.Leu8803Arg)
c.26387T>G (p.Leu8796Arg)
c.26378T>G (p.Leu8793Arg)
c.26372T>G (p.Leu8791Arg)
c.26360T>G (p.Leu8787Arg)
c.26357T>G (p.Leu8786Arg)
c.26318T>G (p.Leu8773Arg)
c.26303T>G (p.Leu8768Arg)
c.26288T>G (p.Leu8763Arg)
c.26276T>G (p.Leu8759Arg)
c.26273T>G (p.Leu8758Arg)
c.26270T>G (p.Leu8757Arg)
c.*93T>G (n.*93T>G)
c.26426T>G (p.Leu8809Arg)
c.26414T>G (p.Leu8805Arg)
c.26264T>G (p.Leu8755Arg)
c.24704T>G (p.Leu8235Arg)
c.24197T>G (p.Leu8066Arg)
c.19664T>G (p.Leu6555Arg)
c.26402T>G (p.Leu8801Arg)
c.26351T>G (p.Leu8784Arg)
c.26315T>G (p.Leu8772Arg)
c.26162T>G (p.Leu8721Arg)
6g.152122548A>GCA366088840ESR1,SYNE1c.2816T>C (p.Leu939Pro)
c.26282T>C (p.Leu8761Pro)
c.26138T>C (p.Leu8713Pro)
c.1625T>C
c.2000T>C
c.1867T>C
c.2132T>C (n.2132T>C)
c.25067T>C (p.Leu8356Pro)
n.3030T>C
c.5058T>C (n.5058T>C)
n.9974T>C
c.4161T>C (n.4161T>C)
n.9866T>C
c.851-2718A>G (n.851-2718A>G)
n.2896T>C
n.6919T>C
c.2747T>C (p.Leu916Pro)
c.26429T>C (p.Leu8810Pro)
c.26417T>C (p.Leu8806Pro)
c.26408T>C (p.Leu8803Pro)
c.26387T>C (p.Leu8796Pro)
c.26378T>C (p.Leu8793Pro)
c.26372T>C (p.Leu8791Pro)
c.26360T>C (p.Leu8787Pro)
c.26357T>C (p.Leu8786Pro)
c.26318T>C (p.Leu8773Pro)
c.26303T>C (p.Leu8768Pro)
c.26288T>C (p.Leu8763Pro)
c.26276T>C (p.Leu8759Pro)
c.26273T>C (p.Leu8758Pro)
c.26270T>C (p.Leu8757Pro)
c.*93T>C (n.*93T>C)
c.26426T>C (p.Leu8809Pro)
c.26414T>C (p.Leu8805Pro)
c.26264T>C (p.Leu8755Pro)
c.24704T>C (p.Leu8235Pro)
c.24197T>C (p.Leu8066Pro)
c.19664T>C (p.Leu6555Pro)
c.26402T>C (p.Leu8801Pro)
c.26351T>C (p.Leu8784Pro)
c.26315T>C (p.Leu8772Pro)
c.26162T>C (p.Leu8721Pro)
6g.152122548A>TCA366088842ESR1,SYNE1c.2816T>A (p.Leu939His)
c.26282T>A (p.Leu8761His)
c.26138T>A (p.Leu8713His)
c.1625T>A
c.2000T>A
c.1867T>A
c.2132T>A (n.2132T>A)
c.25067T>A (p.Leu8356His)
n.3030T>A
c.5058T>A (n.5058T>A)
n.9974T>A
c.4161T>A (n.4161T>A)
n.9866T>A
c.851-2718A>T (n.851-2718A>T)
n.2896T>A
n.6919T>A
c.2747T>A (p.Leu916His)
c.26429T>A (p.Leu8810His)
c.26417T>A (p.Leu8806His)
c.26408T>A (p.Leu8803His)
c.26387T>A (p.Leu8796His)
c.26378T>A (p.Leu8793His)
c.26372T>A (p.Leu8791His)
c.26360T>A (p.Leu8787His)
c.26357T>A (p.Leu8786His)
c.26318T>A (p.Leu8773His)
c.26303T>A (p.Leu8768His)
c.26288T>A (p.Leu8763His)
c.26276T>A (p.Leu8759His)
c.26273T>A (p.Leu8758His)
c.26270T>A (p.Leu8757His)
c.*93T>A (n.*93T>A)
c.26426T>A (p.Leu8809His)
c.26414T>A (p.Leu8805His)
c.26264T>A (p.Leu8755His)
c.24704T>A (p.Leu8235His)
c.24197T>A (p.Leu8066His)
c.19664T>A (p.Leu6555His)
c.26402T>A (p.Leu8801His)
c.26351T>A (p.Leu8784His)
c.26315T>A (p.Leu8772His)
c.26162T>A (p.Leu8721His)
6g.152122549G>ACA4052593ESR1,SYNE1c.2815C>T (p.Leu939Phe)
c.26281C>T (p.Leu8761Phe)
c.26137C>T (p.Leu8713Phe)
c.1624C>T
c.1999C>T
c.1866C>T
c.2131C>T (n.2131C>T)
c.25066C>T (p.Leu8356Phe)
n.3029C>T
c.5057C>T (n.5057C>T)
n.9973C>T
c.4160C>T (n.4160C>T)
n.9865C>T
c.851-2717G>A (n.851-2717G>A)
n.2895C>T
n.6918C>T
c.2746C>T (p.Leu916Phe)
c.26428C>T (p.Leu8810Phe)
c.26416C>T (p.Leu8806Phe)
c.26407C>T (p.Leu8803Phe)
c.26386C>T (p.Leu8796Phe)
c.26377C>T (p.Leu8793Phe)
c.26371C>T (p.Leu8791Phe)
c.26359C>T (p.Leu8787Phe)
c.26356C>T (p.Leu8786Phe)
c.26317C>T (p.Leu8773Phe)
c.26302C>T (p.Leu8768Phe)
c.26287C>T (p.Leu8763Phe)
c.26275C>T (p.Leu8759Phe)
c.26272C>T (p.Leu8758Phe)
c.26269C>T (p.Leu8757Phe)
c.*92C>T (n.*92C>T)
c.26425C>T (p.Leu8809Phe)
c.26413C>T (p.Leu8805Phe)
c.26263C>T (p.Leu8755Phe)
c.24703C>T (p.Leu8235Phe)
c.24196C>T (p.Leu8066Phe)
c.19663C>T (p.Leu6555Phe)
c.26401C>T (p.Leu8801Phe)
c.26350C>T (p.Leu8784Phe)
c.26314C>T (p.Leu8772Phe)
c.26161C>T (p.Leu8721Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122549G>CCA366088844ESR1,SYNE1c.2815C>G (p.Leu939Val)
c.26281C>G (p.Leu8761Val)
c.26137C>G (p.Leu8713Val)
c.1624C>G
c.1999C>G
c.1866C>G
c.2131C>G (n.2131C>G)
c.25066C>G (p.Leu8356Val)
n.3029C>G
c.5057C>G (n.5057C>G)
n.9973C>G
c.4160C>G (n.4160C>G)
n.9865C>G
c.851-2717G>C (n.851-2717G>C)
n.2895C>G
n.6918C>G
c.2746C>G (p.Leu916Val)
c.26428C>G (p.Leu8810Val)
c.26416C>G (p.Leu8806Val)
c.26407C>G (p.Leu8803Val)
c.26386C>G (p.Leu8796Val)
c.26377C>G (p.Leu8793Val)
c.26371C>G (p.Leu8791Val)
c.26359C>G (p.Leu8787Val)
c.26356C>G (p.Leu8786Val)
c.26317C>G (p.Leu8773Val)
c.26302C>G (p.Leu8768Val)
c.26287C>G (p.Leu8763Val)
c.26275C>G (p.Leu8759Val)
c.26272C>G (p.Leu8758Val)
c.26269C>G (p.Leu8757Val)
c.*92C>G (n.*92C>G)
c.26425C>G (p.Leu8809Val)
c.26413C>G (p.Leu8805Val)
c.26263C>G (p.Leu8755Val)
c.24703C>G (p.Leu8235Val)
c.24196C>G (p.Leu8066Val)
c.19663C>G (p.Leu6555Val)
c.26401C>G (p.Leu8801Val)
c.26350C>G (p.Leu8784Val)
c.26314C>G (p.Leu8772Val)
c.26161C>G (p.Leu8721Val)
6g.152122549G=CA1673188969ESR1,SYNE1c.2815C= (p.Leu939=)
c.26281C= (p.Leu8761=)
c.26137C= (p.Leu8713=)
c.1624C=
c.1999C=
c.1866C=
c.2131C= (n.2131C=)
c.25066C= (p.Leu8356=)
n.3029C=
c.5057C= (n.5057C=)
n.9973C=
c.4160C= (n.4160C=)
n.9865C=
c.851-2717G= (n.851-2717G=)
n.2895C=
n.6918C=
c.2746C= (p.Leu916=)
c.26428C= (p.Leu8810=)
c.26416C= (p.Leu8806=)
c.26407C= (p.Leu8803=)
c.26386C= (p.Leu8796=)
c.26377C= (p.Leu8793=)
c.26371C= (p.Leu8791=)
c.26359C= (p.Leu8787=)
c.26356C= (p.Leu8786=)
c.26317C= (p.Leu8773=)
c.26302C= (p.Leu8768=)
c.26287C= (p.Leu8763=)
c.26275C= (p.Leu8759=)
c.26272C= (p.Leu8758=)
c.26269C= (p.Leu8757=)
c.*92C= (n.*92C=)
c.26425C= (p.Leu8809=)
c.26413C= (p.Leu8805=)
c.26263C= (p.Leu8755=)
c.24703C= (p.Leu8235=)
c.24196C= (p.Leu8066=)
c.19663C= (p.Leu6555=)
c.26401C= (p.Leu8801=)
c.26350C= (p.Leu8784=)
c.26314C= (p.Leu8772=)
c.26161C= (p.Leu8721=)
6g.152122549G>TCA366088846ESR1,SYNE1c.2815C>A (p.Leu939Ile)
c.26281C>A (p.Leu8761Ile)
c.26137C>A (p.Leu8713Ile)
c.1624C>A
c.1999C>A
c.1866C>A
c.2131C>A (n.2131C>A)
c.25066C>A (p.Leu8356Ile)
n.3029C>A
c.5057C>A (n.5057C>A)
n.9973C>A
c.4160C>A (n.4160C>A)
n.9865C>A
c.851-2717G>T (n.851-2717G>T)
n.2895C>A
n.6918C>A
c.2746C>A (p.Leu916Ile)
c.26428C>A (p.Leu8810Ile)
c.26416C>A (p.Leu8806Ile)
c.26407C>A (p.Leu8803Ile)
c.26386C>A (p.Leu8796Ile)
c.26377C>A (p.Leu8793Ile)
c.26371C>A (p.Leu8791Ile)
c.26359C>A (p.Leu8787Ile)
c.26356C>A (p.Leu8786Ile)
c.26317C>A (p.Leu8773Ile)
c.26302C>A (p.Leu8768Ile)
c.26287C>A (p.Leu8763Ile)
c.26275C>A (p.Leu8759Ile)
c.26272C>A (p.Leu8758Ile)
c.26269C>A (p.Leu8757Ile)
c.*92C>A (n.*92C>A)
c.26425C>A (p.Leu8809Ile)
c.26413C>A (p.Leu8805Ile)
c.26263C>A (p.Leu8755Ile)
c.24703C>A (p.Leu8235Ile)
c.24196C>A (p.Leu8066Ile)
c.19663C>A (p.Leu6555Ile)
c.26401C>A (p.Leu8801Ile)
c.26350C>A (p.Leu8784Ile)
c.26314C>A (p.Leu8772Ile)
c.26161C>A (p.Leu8721Ile)
6g.152122550C>ACA452969687ESR1,SYNE1c.2814G>T (p.Gly938=)
c.26280G>T (p.Gly8760=)
c.26136G>T (p.Gly8712=)
c.1623G>T
c.1998G>T
c.1865G>T
c.2130G>T (n.2130G>T)
c.25065G>T (p.Gly8355=)
n.3028G>T
c.5056G>T (n.5056G>T)
n.9972G>T
c.4159G>T (n.4159G>T)
n.9864G>T
c.851-2716C>A (n.851-2716C>A)
n.2894G>T
n.6917G>T
c.2745G>T (p.Gly915=)
c.26427G>T (p.Gly8809=)
c.26415G>T (p.Gly8805=)
c.26406G>T (p.Gly8802=)
c.26385G>T (p.Gly8795=)
c.26376G>T (p.Gly8792=)
c.26370G>T (p.Gly8790=)
c.26358G>T (p.Gly8786=)
c.26355G>T (p.Gly8785=)
c.26316G>T (p.Gly8772=)
c.26301G>T (p.Gly8767=)
c.26286G>T (p.Gly8762=)
c.26274G>T (p.Gly8758=)
c.26271G>T (p.Gly8757=)
c.26268G>T (p.Gly8756=)
c.*91G>T (n.*91G>T)
c.26424G>T (p.Gly8808=)
c.26412G>T (p.Gly8804=)
c.26262G>T (p.Gly8754=)
c.24702G>T (p.Gly8234=)
c.24195G>T (p.Gly8065=)
c.19662G>T (p.Gly6554=)
c.26400G>T (p.Gly8800=)
c.26349G>T (p.Gly8783=)
c.26313G>T (p.Gly8771=)
c.26160G>T (p.Gly8720=)
6g.152122550C>GCA452969691ESR1,SYNE1c.2814G>C (p.Gly938=)
c.26280G>C (p.Gly8760=)
c.26136G>C (p.Gly8712=)
c.1623G>C
c.1998G>C
c.1865G>C
c.2130G>C (n.2130G>C)
c.25065G>C (p.Gly8355=)
n.3028G>C
c.5056G>C (n.5056G>C)
n.9972G>C
c.4159G>C (n.4159G>C)
n.9864G>C
c.851-2716C>G (n.851-2716C>G)
n.2894G>C
n.6917G>C
c.2745G>C (p.Gly915=)
c.26427G>C (p.Gly8809=)
c.26415G>C (p.Gly8805=)
c.26406G>C (p.Gly8802=)
c.26385G>C (p.Gly8795=)
c.26376G>C (p.Gly8792=)
c.26370G>C (p.Gly8790=)
c.26358G>C (p.Gly8786=)
c.26355G>C (p.Gly8785=)
c.26316G>C (p.Gly8772=)
c.26301G>C (p.Gly8767=)
c.26286G>C (p.Gly8762=)
c.26274G>C (p.Gly8758=)
c.26271G>C (p.Gly8757=)
c.26268G>C (p.Gly8756=)
c.*91G>C (n.*91G>C)
c.26424G>C (p.Gly8808=)
c.26412G>C (p.Gly8804=)
c.26262G>C (p.Gly8754=)
c.24702G>C (p.Gly8234=)
c.24195G>C (p.Gly8065=)
c.19662G>C (p.Gly6554=)
c.26400G>C (p.Gly8800=)
c.26349G>C (p.Gly8783=)
c.26313G>C (p.Gly8771=)
c.26160G>C (p.Gly8720=)
6g.152122550C>TCA452969689ESR1,SYNE1c.2814G>A (p.Gly938=)
c.26280G>A (p.Gly8760=)
c.26136G>A (p.Gly8712=)
c.1623G>A
c.1998G>A
c.1865G>A
c.2130G>A (n.2130G>A)
c.25065G>A (p.Gly8355=)
n.3028G>A
c.5056G>A (n.5056G>A)
n.9972G>A
c.4159G>A (n.4159G>A)
n.9864G>A
c.851-2716C>T (n.851-2716C>T)
n.2894G>A
n.6917G>A
c.2745G>A (p.Gly915=)
c.26427G>A (p.Gly8809=)
c.26415G>A (p.Gly8805=)
c.26406G>A (p.Gly8802=)
c.26385G>A (p.Gly8795=)
c.26376G>A (p.Gly8792=)
c.26370G>A (p.Gly8790=)
c.26358G>A (p.Gly8786=)
c.26355G>A (p.Gly8785=)
c.26316G>A (p.Gly8772=)
c.26301G>A (p.Gly8767=)
c.26286G>A (p.Gly8762=)
c.26274G>A (p.Gly8758=)
c.26271G>A (p.Gly8757=)
c.26268G>A (p.Gly8756=)
c.*91G>A (n.*91G>A)
c.26424G>A (p.Gly8808=)
c.26412G>A (p.Gly8804=)
c.26262G>A (p.Gly8754=)
c.24702G>A (p.Gly8234=)
c.24195G>A (p.Gly8065=)
c.19662G>A (p.Gly6554=)
c.26400G>A (p.Gly8800=)
c.26349G>A (p.Gly8783=)
c.26313G>A (p.Gly8771=)
c.26160G>A (p.Gly8720=)
6g.152122551C>ACA366088848ESR1,SYNE1c.2813G>T (p.Gly938Val)
c.26279G>T (p.Gly8760Val)
c.26135G>T (p.Gly8712Val)
c.1622G>T
c.1997G>T
c.1864G>T
c.2129G>T (n.2129G>T)
c.25064G>T (p.Gly8355Val)
n.3027G>T
c.5055G>T (n.5055G>T)
n.9971G>T
c.4158G>T (n.4158G>T)
n.9863G>T
c.851-2715C>A (n.851-2715C>A)
n.2893G>T
n.6916G>T
c.2744G>T (p.Gly915Val)
c.26426G>T (p.Gly8809Val)
c.26414G>T (p.Gly8805Val)
c.26405G>T (p.Gly8802Val)
c.26384G>T (p.Gly8795Val)
c.26375G>T (p.Gly8792Val)
c.26369G>T (p.Gly8790Val)
c.26357G>T (p.Gly8786Val)
c.26354G>T (p.Gly8785Val)
c.26315G>T (p.Gly8772Val)
c.26300G>T (p.Gly8767Val)
c.26285G>T (p.Gly8762Val)
c.26273G>T (p.Gly8758Val)
c.26270G>T (p.Gly8757Val)
c.26267G>T (p.Gly8756Val)
c.*90G>T (n.*90G>T)
c.26423G>T (p.Gly8808Val)
c.26411G>T (p.Gly8804Val)
c.26261G>T (p.Gly8754Val)
c.24701G>T (p.Gly8234Val)
c.24194G>T (p.Gly8065Val)
c.19661G>T (p.Gly6554Val)
c.26399G>T (p.Gly8800Val)
c.26348G>T (p.Gly8783Val)
c.26312G>T (p.Gly8771Val)
c.26159G>T (p.Gly8720Val)
 gnomAD v4
6g.152122551C=CA1673188976ESR1,SYNE1c.2813G= (p.Gly938=)
c.26279G= (p.Gly8760=)
c.26135G= (p.Gly8712=)
c.1622G=
c.1997G=
c.1864G=
c.2129G= (n.2129G=)
c.25064G= (p.Gly8355=)
n.3027G=
c.5055G= (n.5055G=)
n.9971G=
c.4158G= (n.4158G=)
n.9863G=
c.851-2715C= (n.851-2715C=)
n.2893G=
n.6916G=
c.2744G= (p.Gly915=)
c.26426G= (p.Gly8809=)
c.26414G= (p.Gly8805=)
c.26405G= (p.Gly8802=)
c.26384G= (p.Gly8795=)
c.26375G= (p.Gly8792=)
c.26369G= (p.Gly8790=)
c.26357G= (p.Gly8786=)
c.26354G= (p.Gly8785=)
c.26315G= (p.Gly8772=)
c.26300G= (p.Gly8767=)
c.26285G= (p.Gly8762=)
c.26273G= (p.Gly8758=)
c.26270G= (p.Gly8757=)
c.26267G= (p.Gly8756=)
c.*90G= (n.*90G=)
c.26423G= (p.Gly8808=)
c.26411G= (p.Gly8804=)
c.26261G= (p.Gly8754=)
c.24701G= (p.Gly8234=)
c.24194G= (p.Gly8065=)
c.19661G= (p.Gly6554=)
c.26399G= (p.Gly8800=)
c.26348G= (p.Gly8783=)
c.26312G= (p.Gly8771=)
c.26159G= (p.Gly8720=)
6g.152122551C>GCA366088850ESR1,SYNE1c.2813G>C (p.Gly938Ala)
c.26279G>C (p.Gly8760Ala)
c.26135G>C (p.Gly8712Ala)
c.1622G>C
c.1997G>C
c.1864G>C
c.2129G>C (n.2129G>C)
c.25064G>C (p.Gly8355Ala)
n.3027G>C
c.5055G>C (n.5055G>C)
n.9971G>C
c.4158G>C (n.4158G>C)
n.9863G>C
c.851-2715C>G (n.851-2715C>G)
n.2893G>C
n.6916G>C
c.2744G>C (p.Gly915Ala)
c.26426G>C (p.Gly8809Ala)
c.26414G>C (p.Gly8805Ala)
c.26405G>C (p.Gly8802Ala)
c.26384G>C (p.Gly8795Ala)
c.26375G>C (p.Gly8792Ala)
c.26369G>C (p.Gly8790Ala)
c.26357G>C (p.Gly8786Ala)
c.26354G>C (p.Gly8785Ala)
c.26315G>C (p.Gly8772Ala)
c.26300G>C (p.Gly8767Ala)
c.26285G>C (p.Gly8762Ala)
c.26273G>C (p.Gly8758Ala)
c.26270G>C (p.Gly8757Ala)
c.26267G>C (p.Gly8756Ala)
c.*90G>C (n.*90G>C)
c.26423G>C (p.Gly8808Ala)
c.26411G>C (p.Gly8804Ala)
c.26261G>C (p.Gly8754Ala)
c.24701G>C (p.Gly8234Ala)
c.24194G>C (p.Gly8065Ala)
c.19661G>C (p.Gly6554Ala)
c.26399G>C (p.Gly8800Ala)
c.26348G>C (p.Gly8783Ala)
c.26312G>C (p.Gly8771Ala)
c.26159G>C (p.Gly8720Ala)
6g.152122551C>TCA4052594ESR1,SYNE1c.2813G>A (p.Gly938Glu)
c.26279G>A (p.Gly8760Glu)
c.26135G>A (p.Gly8712Glu)
c.1622G>A
c.1997G>A
c.1864G>A
c.2129G>A (n.2129G>A)
c.25064G>A (p.Gly8355Glu)
n.3027G>A
c.5055G>A (n.5055G>A)
n.9971G>A
c.4158G>A (n.4158G>A)
n.9863G>A
c.851-2715C>T (n.851-2715C>T)
n.2893G>A
n.6916G>A
c.2744G>A (p.Gly915Glu)
c.26426G>A (p.Gly8809Glu)
c.26414G>A (p.Gly8805Glu)
c.26405G>A (p.Gly8802Glu)
c.26384G>A (p.Gly8795Glu)
c.26375G>A (p.Gly8792Glu)
c.26369G>A (p.Gly8790Glu)
c.26357G>A (p.Gly8786Glu)
c.26354G>A (p.Gly8785Glu)
c.26315G>A (p.Gly8772Glu)
c.26300G>A (p.Gly8767Glu)
c.26285G>A (p.Gly8762Glu)
c.26273G>A (p.Gly8758Glu)
c.26270G>A (p.Gly8757Glu)
c.26267G>A (p.Gly8756Glu)
c.*90G>A (n.*90G>A)
c.26423G>A (p.Gly8808Glu)
c.26411G>A (p.Gly8804Glu)
c.26261G>A (p.Gly8754Glu)
c.24701G>A (p.Gly8234Glu)
c.24194G>A (p.Gly8065Glu)
c.19661G>A (p.Gly6554Glu)
c.26399G>A (p.Gly8800Glu)
c.26348G>A (p.Gly8783Glu)
c.26312G>A (p.Gly8771Glu)
c.26159G>A (p.Gly8720Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122552C>ACA366088855ESR1,SYNE1c.2812G>T (p.Gly938Trp)
c.26278G>T (p.Gly8760Trp)
c.26134G>T (p.Gly8712Trp)
c.1621G>T
c.1996G>T
c.1863G>T
c.2128G>T (n.2128G>T)
c.25063G>T (p.Gly8355Trp)
n.3026G>T
c.5054G>T (n.5054G>T)
n.9970G>T
c.4157G>T (n.4157G>T)
n.9862G>T
c.851-2714C>A (n.851-2714C>A)
n.2892G>T
n.6915G>T
c.2743G>T (p.Gly915Trp)
c.26425G>T (p.Gly8809Trp)
c.26413G>T (p.Gly8805Trp)
c.26404G>T (p.Gly8802Trp)
c.26383G>T (p.Gly8795Trp)
c.26374G>T (p.Gly8792Trp)
c.26368G>T (p.Gly8790Trp)
c.26356G>T (p.Gly8786Trp)
c.26353G>T (p.Gly8785Trp)
c.26314G>T (p.Gly8772Trp)
c.26299G>T (p.Gly8767Trp)
c.26284G>T (p.Gly8762Trp)
c.26272G>T (p.Gly8758Trp)
c.26269G>T (p.Gly8757Trp)
c.26266G>T (p.Gly8756Trp)
c.*89G>T (n.*89G>T)
c.26422G>T (p.Gly8808Trp)
c.26410G>T (p.Gly8804Trp)
c.26260G>T (p.Gly8754Trp)
c.24700G>T (p.Gly8234Trp)
c.24193G>T (p.Gly8065Trp)
c.19660G>T (p.Gly6554Trp)
c.26398G>T (p.Gly8800Trp)
c.26347G>T (p.Gly8783Trp)
c.26311G>T (p.Gly8771Trp)
c.26158G>T (p.Gly8720Trp)
 dbSNP
6g.152122552C=CA1673188981ESR1,SYNE1c.2812G= (p.Gly938=)
c.26278G= (p.Gly8760=)
c.26134G= (p.Gly8712=)
c.1621G=
c.1996G=
c.1863G=
c.2128G= (n.2128G=)
c.25063G= (p.Gly8355=)
n.3026G=
c.5054G= (n.5054G=)
n.9970G=
c.4157G= (n.4157G=)
n.9862G=
c.851-2714C= (n.851-2714C=)
n.2892G=
n.6915G=
c.2743G= (p.Gly915=)
c.26425G= (p.Gly8809=)
c.26413G= (p.Gly8805=)
c.26404G= (p.Gly8802=)
c.26383G= (p.Gly8795=)
c.26374G= (p.Gly8792=)
c.26368G= (p.Gly8790=)
c.26356G= (p.Gly8786=)
c.26353G= (p.Gly8785=)
c.26314G= (p.Gly8772=)
c.26299G= (p.Gly8767=)
c.26284G= (p.Gly8762=)
c.26272G= (p.Gly8758=)
c.26269G= (p.Gly8757=)
c.26266G= (p.Gly8756=)
c.*89G= (n.*89G=)
c.26422G= (p.Gly8808=)
c.26410G= (p.Gly8804=)
c.26260G= (p.Gly8754=)
c.24700G= (p.Gly8234=)
c.24193G= (p.Gly8065=)
c.19660G= (p.Gly6554=)
c.26398G= (p.Gly8800=)
c.26347G= (p.Gly8783=)
c.26311G= (p.Gly8771=)
c.26158G= (p.Gly8720=)
6g.152122552C>GCA366088853ESR1,SYNE1c.2812G>C (p.Gly938Arg)
c.26278G>C (p.Gly8760Arg)
c.26134G>C (p.Gly8712Arg)
c.1621G>C
c.1996G>C
c.1863G>C
c.2128G>C (n.2128G>C)
c.25063G>C (p.Gly8355Arg)
n.3026G>C
c.5054G>C (n.5054G>C)
n.9970G>C
c.4157G>C (n.4157G>C)
n.9862G>C
c.851-2714C>G (n.851-2714C>G)
n.2892G>C
n.6915G>C
c.2743G>C (p.Gly915Arg)
c.26425G>C (p.Gly8809Arg)
c.26413G>C (p.Gly8805Arg)
c.26404G>C (p.Gly8802Arg)
c.26383G>C (p.Gly8795Arg)
c.26374G>C (p.Gly8792Arg)
c.26368G>C (p.Gly8790Arg)
c.26356G>C (p.Gly8786Arg)
c.26353G>C (p.Gly8785Arg)
c.26314G>C (p.Gly8772Arg)
c.26299G>C (p.Gly8767Arg)
c.26284G>C (p.Gly8762Arg)
c.26272G>C (p.Gly8758Arg)
c.26269G>C (p.Gly8757Arg)
c.26266G>C (p.Gly8756Arg)
c.*89G>C (n.*89G>C)
c.26422G>C (p.Gly8808Arg)
c.26410G>C (p.Gly8804Arg)
c.26260G>C (p.Gly8754Arg)
c.24700G>C (p.Gly8234Arg)
c.24193G>C (p.Gly8065Arg)
c.19660G>C (p.Gly6554Arg)
c.26398G>C (p.Gly8800Arg)
c.26347G>C (p.Gly8783Arg)
c.26311G>C (p.Gly8771Arg)
c.26158G>C (p.Gly8720Arg)
6g.152122552C>TCA4052595ESR1,SYNE1c.2812G>A (p.Gly938Arg)
c.26278G>A (p.Gly8760Arg)
c.26134G>A (p.Gly8712Arg)
c.1621G>A
c.1996G>A
c.1863G>A
c.2128G>A (n.2128G>A)
c.25063G>A (p.Gly8355Arg)
n.3026G>A
c.5054G>A (n.5054G>A)
n.9970G>A
c.4157G>A (n.4157G>A)
n.9862G>A
c.851-2714C>T (n.851-2714C>T)
n.2892G>A
n.6915G>A
c.2743G>A (p.Gly915Arg)
c.26425G>A (p.Gly8809Arg)
c.26413G>A (p.Gly8805Arg)
c.26404G>A (p.Gly8802Arg)
c.26383G>A (p.Gly8795Arg)
c.26374G>A (p.Gly8792Arg)
c.26368G>A (p.Gly8790Arg)
c.26356G>A (p.Gly8786Arg)
c.26353G>A (p.Gly8785Arg)
c.26314G>A (p.Gly8772Arg)
c.26299G>A (p.Gly8767Arg)
c.26284G>A (p.Gly8762Arg)
c.26272G>A (p.Gly8758Arg)
c.26269G>A (p.Gly8757Arg)
c.26266G>A (p.Gly8756Arg)
c.*89G>A (n.*89G>A)
c.26422G>A (p.Gly8808Arg)
c.26410G>A (p.Gly8804Arg)
c.26260G>A (p.Gly8754Arg)
c.24700G>A (p.Gly8234Arg)
c.24193G>A (p.Gly8065Arg)
c.19660G>A (p.Gly6554Arg)
c.26398G>A (p.Gly8800Arg)
c.26347G>A (p.Gly8783Arg)
c.26311G>A (p.Gly8771Arg)
c.26158G>A (p.Gly8720Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122553G>ACA150189529ESR1,SYNE1c.2811C>T (p.Ile937=)
c.26277C>T (p.Ile8759=)
c.26133C>T (p.Ile8711=)
c.1620C>T
c.1995C>T
c.1862C>T
c.2127C>T (n.2127C>T)
c.25062C>T (p.Ile8354=)
n.3025C>T
c.5053C>T (n.5053C>T)
n.9969C>T
c.4156C>T (n.4156C>T)
n.9861C>T
c.851-2713G>A (n.851-2713G>A)
n.2891C>T
n.6914C>T
c.2742C>T (p.Ile914=)
c.26424C>T (p.Ile8808=)
c.26412C>T (p.Ile8804=)
c.26403C>T (p.Ile8801=)
c.26382C>T (p.Ile8794=)
c.26373C>T (p.Ile8791=)
c.26367C>T (p.Ile8789=)
c.26355C>T (p.Ile8785=)
c.26352C>T (p.Ile8784=)
c.26313C>T (p.Ile8771=)
c.26298C>T (p.Ile8766=)
c.26283C>T (p.Ile8761=)
c.26271C>T (p.Ile8757=)
c.26268C>T (p.Ile8756=)
c.26265C>T (p.Ile8755=)
c.*88C>T (n.*88C>T)
c.26421C>T (p.Ile8807=)
c.26409C>T (p.Ile8803=)
c.26259C>T (p.Ile8753=)
c.24699C>T (p.Ile8233=)
c.24192C>T (p.Ile8064=)
c.19659C>T (p.Ile6553=)
c.26397C>T (p.Ile8799=)
c.26346C>T (p.Ile8782=)
c.26310C>T (p.Ile8770=)
c.26157C>T (p.Ile8719=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152122553G>CCA366088858ESR1,SYNE1c.2811C>G (p.Ile937Met)
c.26277C>G (p.Ile8759Met)
c.26133C>G (p.Ile8711Met)
c.1620C>G
c.1995C>G
c.1862C>G
c.2127C>G (n.2127C>G)
c.25062C>G (p.Ile8354Met)
n.3025C>G
c.5053C>G (n.5053C>G)
n.9969C>G
c.4156C>G (n.4156C>G)
n.9861C>G
c.851-2713G>C (n.851-2713G>C)
n.2891C>G
n.6914C>G
c.2742C>G (p.Ile914Met)
c.26424C>G (p.Ile8808Met)
c.26412C>G (p.Ile8804Met)
c.26403C>G (p.Ile8801Met)
c.26382C>G (p.Ile8794Met)
c.26373C>G (p.Ile8791Met)
c.26367C>G (p.Ile8789Met)
c.26355C>G (p.Ile8785Met)
c.26352C>G (p.Ile8784Met)
c.26313C>G (p.Ile8771Met)
c.26298C>G (p.Ile8766Met)
c.26283C>G (p.Ile8761Met)
c.26271C>G (p.Ile8757Met)
c.26268C>G (p.Ile8756Met)
c.26265C>G (p.Ile8755Met)
c.*88C>G (n.*88C>G)
c.26421C>G (p.Ile8807Met)
c.26409C>G (p.Ile8803Met)
c.26259C>G (p.Ile8753Met)
c.24699C>G (p.Ile8233Met)
c.24192C>G (p.Ile8064Met)
c.19659C>G (p.Ile6553Met)
c.26397C>G (p.Ile8799Met)
c.26346C>G (p.Ile8782Met)
c.26310C>G (p.Ile8770Met)
c.26157C>G (p.Ile8719Met)
6g.152122553G=CA1673188989ESR1,SYNE1c.2811C= (p.Ile937=)
c.26277C= (p.Ile8759=)
c.26133C= (p.Ile8711=)
c.1620C=
c.1995C=
c.1862C=
c.2127C= (n.2127C=)
c.25062C= (p.Ile8354=)
n.3025C=
c.5053C= (n.5053C=)
n.9969C=
c.4156C= (n.4156C=)
n.9861C=
c.851-2713G= (n.851-2713G=)
n.2891C=
n.6914C=
c.2742C= (p.Ile914=)
c.26424C= (p.Ile8808=)
c.26412C= (p.Ile8804=)
c.26403C= (p.Ile8801=)
c.26382C= (p.Ile8794=)
c.26373C= (p.Ile8791=)
c.26367C= (p.Ile8789=)
c.26355C= (p.Ile8785=)
c.26352C= (p.Ile8784=)
c.26313C= (p.Ile8771=)
c.26298C= (p.Ile8766=)
c.26283C= (p.Ile8761=)
c.26271C= (p.Ile8757=)
c.26268C= (p.Ile8756=)
c.26265C= (p.Ile8755=)
c.*88C= (n.*88C=)
c.26421C= (p.Ile8807=)
c.26409C= (p.Ile8803=)
c.26259C= (p.Ile8753=)
c.24699C= (p.Ile8233=)
c.24192C= (p.Ile8064=)
c.19659C= (p.Ile6553=)
c.26397C= (p.Ile8799=)
c.26346C= (p.Ile8782=)
c.26310C= (p.Ile8770=)
c.26157C= (p.Ile8719=)
6g.152122553G>TCA452969693ESR1,SYNE1c.2811C>A (p.Ile937=)
c.26277C>A (p.Ile8759=)
c.26133C>A (p.Ile8711=)
c.1620C>A
c.1995C>A
c.1862C>A
c.2127C>A (n.2127C>A)
c.25062C>A (p.Ile8354=)
n.3025C>A
c.5053C>A (n.5053C>A)
n.9969C>A
c.4156C>A (n.4156C>A)
n.9861C>A
c.851-2713G>T (n.851-2713G>T)
n.2891C>A
n.6914C>A
c.2742C>A (p.Ile914=)
c.26424C>A (p.Ile8808=)
c.26412C>A (p.Ile8804=)
c.26403C>A (p.Ile8801=)
c.26382C>A (p.Ile8794=)
c.26373C>A (p.Ile8791=)
c.26367C>A (p.Ile8789=)
c.26355C>A (p.Ile8785=)
c.26352C>A (p.Ile8784=)
c.26313C>A (p.Ile8771=)
c.26298C>A (p.Ile8766=)
c.26283C>A (p.Ile8761=)
c.26271C>A (p.Ile8757=)
c.26268C>A (p.Ile8756=)
c.26265C>A (p.Ile8755=)
c.*88C>A (n.*88C>A)
c.26421C>A (p.Ile8807=)
c.26409C>A (p.Ile8803=)
c.26259C>A (p.Ile8753=)
c.24699C>A (p.Ile8233=)
c.24192C>A (p.Ile8064=)
c.19659C>A (p.Ile6553=)
c.26397C>A (p.Ile8799=)
c.26346C>A (p.Ile8782=)
c.26310C>A (p.Ile8770=)
c.26157C>A (p.Ile8719=)
6g.152122554A>CCA366088860ESR1,SYNE1c.2810T>G (p.Ile937Ser)
c.26276T>G (p.Ile8759Ser)
c.26132T>G (p.Ile8711Ser)
c.1619T>G
c.1994T>G
c.1861T>G
c.2126T>G (n.2126T>G)
c.25061T>G (p.Ile8354Ser)
n.3024T>G
c.5052T>G (n.5052T>G)
n.9968T>G
c.4155T>G (n.4155T>G)
n.9860T>G
c.851-2712A>C (n.851-2712A>C)
n.2890T>G
n.6913T>G
c.2741T>G (p.Ile914Ser)
c.26423T>G (p.Ile8808Ser)
c.26411T>G (p.Ile8804Ser)
c.26402T>G (p.Ile8801Ser)
c.26381T>G (p.Ile8794Ser)
c.26372T>G (p.Ile8791Ser)
c.26366T>G (p.Ile8789Ser)
c.26354T>G (p.Ile8785Ser)
c.26351T>G (p.Ile8784Ser)
c.26312T>G (p.Ile8771Ser)
c.26297T>G (p.Ile8766Ser)
c.26282T>G (p.Ile8761Ser)
c.26270T>G (p.Ile8757Ser)
c.26267T>G (p.Ile8756Ser)
c.26264T>G (p.Ile8755Ser)
c.*87T>G (n.*87T>G)
c.26420T>G (p.Ile8807Ser)
c.26408T>G (p.Ile8803Ser)
c.26258T>G (p.Ile8753Ser)
c.24698T>G (p.Ile8233Ser)
c.24191T>G (p.Ile8064Ser)
c.19658T>G (p.Ile6553Ser)
c.26396T>G (p.Ile8799Ser)
c.26345T>G (p.Ile8782Ser)
c.26309T>G (p.Ile8770Ser)
c.26156T>G (p.Ile8719Ser)
6g.152122554A>GCA366088861ESR1,SYNE1c.2810T>C (p.Ile937Thr)
c.26276T>C (p.Ile8759Thr)
c.26132T>C (p.Ile8711Thr)
c.1619T>C
c.1994T>C
c.1861T>C
c.2126T>C (n.2126T>C)
c.25061T>C (p.Ile8354Thr)
n.3024T>C
c.5052T>C (n.5052T>C)
n.9968T>C
c.4155T>C (n.4155T>C)
n.9860T>C
c.851-2712A>G (n.851-2712A>G)
n.2890T>C
n.6913T>C
c.2741T>C (p.Ile914Thr)
c.26423T>C (p.Ile8808Thr)
c.26411T>C (p.Ile8804Thr)
c.26402T>C (p.Ile8801Thr)
c.26381T>C (p.Ile8794Thr)
c.26372T>C (p.Ile8791Thr)
c.26366T>C (p.Ile8789Thr)
c.26354T>C (p.Ile8785Thr)
c.26351T>C (p.Ile8784Thr)
c.26312T>C (p.Ile8771Thr)
c.26297T>C (p.Ile8766Thr)
c.26282T>C (p.Ile8761Thr)
c.26270T>C (p.Ile8757Thr)
c.26267T>C (p.Ile8756Thr)
c.26264T>C (p.Ile8755Thr)
c.*87T>C (n.*87T>C)
c.26420T>C (p.Ile8807Thr)
c.26408T>C (p.Ile8803Thr)
c.26258T>C (p.Ile8753Thr)
c.24698T>C (p.Ile8233Thr)
c.24191T>C (p.Ile8064Thr)
c.19658T>C (p.Ile6553Thr)
c.26396T>C (p.Ile8799Thr)
c.26345T>C (p.Ile8782Thr)
c.26309T>C (p.Ile8770Thr)
c.26156T>C (p.Ile8719Thr)
6g.152122554A>TCA366088863ESR1,SYNE1c.2810T>A (p.Ile937Asn)
c.26276T>A (p.Ile8759Asn)
c.26132T>A (p.Ile8711Asn)
c.1619T>A
c.1994T>A
c.1861T>A
c.2126T>A (n.2126T>A)
c.25061T>A (p.Ile8354Asn)
n.3024T>A
c.5052T>A (n.5052T>A)
n.9968T>A
c.4155T>A (n.4155T>A)
n.9860T>A
c.851-2712A>T (n.851-2712A>T)
n.2890T>A
n.6913T>A
c.2741T>A (p.Ile914Asn)
c.26423T>A (p.Ile8808Asn)
c.26411T>A (p.Ile8804Asn)
c.26402T>A (p.Ile8801Asn)
c.26381T>A (p.Ile8794Asn)
c.26372T>A (p.Ile8791Asn)
c.26366T>A (p.Ile8789Asn)
c.26354T>A (p.Ile8785Asn)
c.26351T>A (p.Ile8784Asn)
c.26312T>A (p.Ile8771Asn)
c.26297T>A (p.Ile8766Asn)
c.26282T>A (p.Ile8761Asn)
c.26270T>A (p.Ile8757Asn)
c.26267T>A (p.Ile8756Asn)
c.26264T>A (p.Ile8755Asn)
c.*87T>A (n.*87T>A)
c.26420T>A (p.Ile8807Asn)
c.26408T>A (p.Ile8803Asn)
c.26258T>A (p.Ile8753Asn)
c.24698T>A (p.Ile8233Asn)
c.24191T>A (p.Ile8064Asn)
c.19658T>A (p.Ile6553Asn)
c.26396T>A (p.Ile8799Asn)
c.26345T>A (p.Ile8782Asn)
c.26309T>A (p.Ile8770Asn)
c.26156T>A (p.Ile8719Asn)
6g.152122555T>ACA366088865ESR1,SYNE1c.2809A>T (p.Ile937Phe)
c.26275A>T (p.Ile8759Phe)
c.26131A>T (p.Ile8711Phe)
c.1618A>T
c.1993A>T
c.1860A>T
c.2125A>T (n.2125A>T)
c.25060A>T (p.Ile8354Phe)
n.3023A>T
c.5051A>T (n.5051A>T)
n.9967A>T
c.4154A>T (n.4154A>T)
n.9859A>T
c.851-2711T>A (n.851-2711T>A)
n.2889A>T
n.6912A>T
c.2740A>T (p.Ile914Phe)
c.26422A>T (p.Ile8808Phe)
c.26410A>T (p.Ile8804Phe)
c.26401A>T (p.Ile8801Phe)
c.26380A>T (p.Ile8794Phe)
c.26371A>T (p.Ile8791Phe)
c.26365A>T (p.Ile8789Phe)
c.26353A>T (p.Ile8785Phe)
c.26350A>T (p.Ile8784Phe)
c.26311A>T (p.Ile8771Phe)
c.26296A>T (p.Ile8766Phe)
c.26281A>T (p.Ile8761Phe)
c.26269A>T (p.Ile8757Phe)
c.26266A>T (p.Ile8756Phe)
c.26263A>T (p.Ile8755Phe)
c.*86A>T (n.*86A>T)
c.26419A>T (p.Ile8807Phe)
c.26407A>T (p.Ile8803Phe)
c.26257A>T (p.Ile8753Phe)
c.24697A>T (p.Ile8233Phe)
c.24190A>T (p.Ile8064Phe)
c.19657A>T (p.Ile6553Phe)
c.26395A>T (p.Ile8799Phe)
c.26344A>T (p.Ile8782Phe)
c.26308A>T (p.Ile8770Phe)
c.26155A>T (p.Ile8719Phe)
6g.152122555T>CCA366088867ESR1,SYNE1c.2809A>G (p.Ile937Val)
c.26275A>G (p.Ile8759Val)
c.26131A>G (p.Ile8711Val)
c.1618A>G
c.1993A>G
c.1860A>G
c.2125A>G (n.2125A>G)
c.25060A>G (p.Ile8354Val)
n.3023A>G
c.5051A>G (n.5051A>G)
n.9967A>G
c.4154A>G (n.4154A>G)
n.9859A>G
c.851-2711T>C (n.851-2711T>C)
n.2889A>G
n.6912A>G
c.2740A>G (p.Ile914Val)
c.26422A>G (p.Ile8808Val)
c.26410A>G (p.Ile8804Val)
c.26401A>G (p.Ile8801Val)
c.26380A>G (p.Ile8794Val)
c.26371A>G (p.Ile8791Val)
c.26365A>G (p.Ile8789Val)
c.26353A>G (p.Ile8785Val)
c.26350A>G (p.Ile8784Val)
c.26311A>G (p.Ile8771Val)
c.26296A>G (p.Ile8766Val)
c.26281A>G (p.Ile8761Val)
c.26269A>G (p.Ile8757Val)
c.26266A>G (p.Ile8756Val)
c.26263A>G (p.Ile8755Val)
c.*86A>G (n.*86A>G)
c.26419A>G (p.Ile8807Val)
c.26407A>G (p.Ile8803Val)
c.26257A>G (p.Ile8753Val)
c.24697A>G (p.Ile8233Val)
c.24190A>G (p.Ile8064Val)
c.19657A>G (p.Ile6553Val)
c.26395A>G (p.Ile8799Val)
c.26344A>G (p.Ile8782Val)
c.26308A>G (p.Ile8770Val)
c.26155A>G (p.Ile8719Val)
 gnomAD v4
6g.152122555T>GCA366088869ESR1,SYNE1c.2809A>C (p.Ile937Leu)
c.26275A>C (p.Ile8759Leu)
c.26131A>C (p.Ile8711Leu)
c.1618A>C
c.1993A>C
c.1860A>C
c.2125A>C (n.2125A>C)
c.25060A>C (p.Ile8354Leu)
n.3023A>C
c.5051A>C (n.5051A>C)
n.9967A>C
c.4154A>C (n.4154A>C)
n.9859A>C
c.851-2711T>G (n.851-2711T>G)
n.2889A>C
n.6912A>C
c.2740A>C (p.Ile914Leu)
c.26422A>C (p.Ile8808Leu)
c.26410A>C (p.Ile8804Leu)
c.26401A>C (p.Ile8801Leu)
c.26380A>C (p.Ile8794Leu)
c.26371A>C (p.Ile8791Leu)
c.26365A>C (p.Ile8789Leu)
c.26353A>C (p.Ile8785Leu)
c.26350A>C (p.Ile8784Leu)
c.26311A>C (p.Ile8771Leu)
c.26296A>C (p.Ile8766Leu)
c.26281A>C (p.Ile8761Leu)
c.26269A>C (p.Ile8757Leu)
c.26266A>C (p.Ile8756Leu)
c.26263A>C (p.Ile8755Leu)
c.*86A>C (n.*86A>C)
c.26419A>C (p.Ile8807Leu)
c.26407A>C (p.Ile8803Leu)
c.26257A>C (p.Ile8753Leu)
c.24697A>C (p.Ile8233Leu)
c.24190A>C (p.Ile8064Leu)
c.19657A>C (p.Ile6553Leu)
c.26395A>C (p.Ile8799Leu)
c.26344A>C (p.Ile8782Leu)
c.26308A>C (p.Ile8770Leu)
c.26155A>C (p.Ile8719Leu)
 gnomAD v4
6g.152122555_152122558delinsTGAGCA1673188995ESR1,SYNE1c.2806_2809delinsCTCA (p.Leu936=)
c.26272_26275delinsCTCA (p.Leu8758=)
c.26128_26131delinsCTCA (p.Leu8710=)
c.1615_1618delinsCTCA
c.1990_1993delinsCTCA
c.1857_1860delinsCTCA
c.2122_2125delinsCTCA (n.2122_2125delinsCTCA)
c.25057_25060delinsCTCA (p.Leu8353=)
n.3020_3023delinsCTCA
c.5048_5051delinsCTCA (n.5048_5051delinsCTCA)
n.9964_9967delinsCTCA
c.4151_4154delinsCTCA (n.4151_4154delinsCTCA)
n.9856_9859delinsCTCA
c.851-2711_851-2708delinsTGAG (n.851-2711_851-2708delinsTGAG)
n.2886_2889delinsCTCA
n.6909_6912delinsCTCA
c.2737_2740delinsCTCA (p.Leu913=)
c.26419_26422delinsCTCA (p.Leu8807=)
c.26407_26410delinsCTCA (p.Leu8803=)
c.26398_26401delinsCTCA (p.Leu8800=)
c.26377_26380delinsCTCA (p.Leu8793=)
c.26368_26371delinsCTCA (p.Leu8790=)
c.26362_26365delinsCTCA (p.Leu8788=)
c.26350_26353delinsCTCA (p.Leu8784=)
c.26347_26350delinsCTCA (p.Leu8783=)
c.26308_26311delinsCTCA (p.Leu8770=)
c.26293_26296delinsCTCA (p.Leu8765=)
c.26278_26281delinsCTCA (p.Leu8760=)
c.26266_26269delinsCTCA (p.Leu8756=)
c.26263_26266delinsCTCA (p.Leu8755=)
c.26260_26263delinsCTCA (p.Leu8754=)
c.*83_*86delinsCTCA (n.*83_*86delinsCTCA)
c.26416_26419delinsCTCA (p.Leu8806=)
c.26404_26407delinsCTCA (p.Leu8802=)
c.26254_26257delinsCTCA (p.Leu8752=)
c.24694_24697delinsCTCA (p.Leu8232=)
c.24187_24190delinsCTCA (p.Leu8063=)
c.19654_19657delinsCTCA (p.Leu6552=)
c.26392_26395delinsCTCA (p.Leu8798=)
c.26341_26344delinsCTCA (p.Leu8781=)
c.26305_26308delinsCTCA (p.Leu8769=)
c.26152_26155delinsCTCA (p.Leu8718=)
6g.152122556G>ACA452969698ESR1,SYNE1c.2808C>T (p.Leu936=)
c.26274C>T (p.Leu8758=)
c.26130C>T (p.Leu8710=)
c.1617C>T
c.1992C>T
c.1859C>T
c.2124C>T (n.2124C>T)
c.25059C>T (p.Leu8353=)
n.3022C>T
c.5050C>T (n.5050C>T)
n.9966C>T
c.4153C>T (n.4153C>T)
n.9858C>T
c.851-2710G>A (n.851-2710G>A)
n.2888C>T
n.6911C>T
c.2739C>T (p.Leu913=)
c.26421C>T (p.Leu8807=)
c.26409C>T (p.Leu8803=)
c.26400C>T (p.Leu8800=)
c.26379C>T (p.Leu8793=)
c.26370C>T (p.Leu8790=)
c.26364C>T (p.Leu8788=)
c.26352C>T (p.Leu8784=)
c.26349C>T (p.Leu8783=)
c.26310C>T (p.Leu8770=)
c.26295C>T (p.Leu8765=)
c.26280C>T (p.Leu8760=)
c.26268C>T (p.Leu8756=)
c.26265C>T (p.Leu8755=)
c.26262C>T (p.Leu8754=)
c.*85C>T (n.*85C>T)
c.26418C>T (p.Leu8806=)
c.26406C>T (p.Leu8802=)
c.26256C>T (p.Leu8752=)
c.24696C>T (p.Leu8232=)
c.24189C>T (p.Leu8063=)
c.19656C>T (p.Leu6552=)
c.26394C>T (p.Leu8798=)
c.26343C>T (p.Leu8781=)
c.26307C>T (p.Leu8769=)
c.26154C>T (p.Leu8718=)
6g.152122556G>CCA452969699ESR1,SYNE1c.2808C>G (p.Leu936=)
c.26274C>G (p.Leu8758=)
c.26130C>G (p.Leu8710=)
c.1617C>G
c.1992C>G
c.1859C>G
c.2124C>G (n.2124C>G)
c.25059C>G (p.Leu8353=)
n.3022C>G
c.5050C>G (n.5050C>G)
n.9966C>G
c.4153C>G (n.4153C>G)
n.9858C>G
c.851-2710G>C (n.851-2710G>C)
n.2888C>G
n.6911C>G
c.2739C>G (p.Leu913=)
c.26421C>G (p.Leu8807=)
c.26409C>G (p.Leu8803=)
c.26400C>G (p.Leu8800=)
c.26379C>G (p.Leu8793=)
c.26370C>G (p.Leu8790=)
c.26364C>G (p.Leu8788=)
c.26352C>G (p.Leu8784=)
c.26349C>G (p.Leu8783=)
c.26310C>G (p.Leu8770=)
c.26295C>G (p.Leu8765=)
c.26280C>G (p.Leu8760=)
c.26268C>G (p.Leu8756=)
c.26265C>G (p.Leu8755=)
c.26262C>G (p.Leu8754=)
c.*85C>G (n.*85C>G)
c.26418C>G (p.Leu8806=)
c.26406C>G (p.Leu8802=)
c.26256C>G (p.Leu8752=)
c.24696C>G (p.Leu8232=)
c.24189C>G (p.Leu8063=)
c.19656C>G (p.Leu6552=)
c.26394C>G (p.Leu8798=)
c.26343C>G (p.Leu8781=)
c.26307C>G (p.Leu8769=)
c.26154C>G (p.Leu8718=)
6g.152122556G>TCA452969700ESR1,SYNE1c.2808C>A (p.Leu936=)
c.26274C>A (p.Leu8758=)
c.26130C>A (p.Leu8710=)
c.1617C>A
c.1992C>A
c.1859C>A
c.2124C>A (n.2124C>A)
c.25059C>A (p.Leu8353=)
n.3022C>A
c.5050C>A (n.5050C>A)
n.9966C>A
c.4153C>A (n.4153C>A)
n.9858C>A
c.851-2710G>T (n.851-2710G>T)
n.2888C>A
n.6911C>A
c.2739C>A (p.Leu913=)
c.26421C>A (p.Leu8807=)
c.26409C>A (p.Leu8803=)
c.26400C>A (p.Leu8800=)
c.26379C>A (p.Leu8793=)
c.26370C>A (p.Leu8790=)
c.26364C>A (p.Leu8788=)
c.26352C>A (p.Leu8784=)
c.26349C>A (p.Leu8783=)
c.26310C>A (p.Leu8770=)
c.26295C>A (p.Leu8765=)
c.26280C>A (p.Leu8760=)
c.26268C>A (p.Leu8756=)
c.26265C>A (p.Leu8755=)
c.26262C>A (p.Leu8754=)
c.*85C>A (n.*85C>A)
c.26418C>A (p.Leu8806=)
c.26406C>A (p.Leu8802=)
c.26256C>A (p.Leu8752=)
c.24696C>A (p.Leu8232=)
c.24189C>A (p.Leu8063=)
c.19656C>A (p.Leu6552=)
c.26394C>A (p.Leu8798=)
c.26343C>A (p.Leu8781=)
c.26307C>A (p.Leu8769=)
c.26154C>A (p.Leu8718=)
6g.152122562_152122564delCA571437293ESR1,SYNE1c.2806_2808del (p.Leu936del)
c.26272_26274del (p.Leu8758del)
c.26128_26130del (p.Leu8710del)
c.1615_1617del
c.1990_1992del
c.1857_1859del
c.2122_2124del (n.2122_2124del)
c.25057_25059del (p.Leu8353del)
n.3020_3022del
c.5048_5050del (n.5048_5050del)
n.9964_9966del
c.4151_4153del (n.4151_4153del)
n.9856_9858del
c.851-2704_851-2702del (n.851-2704_851-2702del)
n.2886_2888del
n.6909_6911del
c.2737_2739del (p.Leu913del)
c.26419_26421del (p.Leu8807del)
c.26407_26409del (p.Leu8803del)
c.26398_26400del (p.Leu8800del)
c.26377_26379del (p.Leu8793del)
c.26368_26370del (p.Leu8790del)
c.26362_26364del (p.Leu8788del)
c.26350_26352del (p.Leu8784del)
c.26347_26349del (p.Leu8783del)
c.26308_26310del (p.Leu8770del)
c.26293_26295del (p.Leu8765del)
c.26278_26280del (p.Leu8760del)
c.26266_26268del (p.Leu8756del)
c.26263_26265del (p.Leu8755del)
c.26260_26262del (p.Leu8754del)
c.*83_*85del (n.*83_*85del)
c.26416_26418del (p.Leu8806del)
c.26404_26406del (p.Leu8802del)
c.26254_26256del (p.Leu8752del)
c.24694_24696del (p.Leu8232del)
c.24187_24189del (p.Leu8063del)
c.19654_19656del (p.Leu6552del)
c.26392_26394del (p.Leu8798del)
c.26341_26343del (p.Leu8781del)
c.26305_26307del (p.Leu8769del)
c.26152_26154del (p.Leu8718del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152122557A>CCA366088871ESR1,SYNE1c.2807T>G (p.Leu936Arg)
c.26273T>G (p.Leu8758Arg)
c.26129T>G (p.Leu8710Arg)
c.1616T>G
c.1991T>G
c.1858T>G
c.2123T>G (n.2123T>G)
c.25058T>G (p.Leu8353Arg)
n.3021T>G
c.5049T>G (n.5049T>G)
n.9965T>G
c.4152T>G (n.4152T>G)
n.9857T>G
c.851-2709A>C (n.851-2709A>C)
n.2887T>G
n.6910T>G
c.2738T>G (p.Leu913Arg)
c.26420T>G (p.Leu8807Arg)
c.26408T>G (p.Leu8803Arg)
c.26399T>G (p.Leu8800Arg)
c.26378T>G (p.Leu8793Arg)
c.26369T>G (p.Leu8790Arg)
c.26363T>G (p.Leu8788Arg)
c.26351T>G (p.Leu8784Arg)
c.26348T>G (p.Leu8783Arg)
c.26309T>G (p.Leu8770Arg)
c.26294T>G (p.Leu8765Arg)
c.26279T>G (p.Leu8760Arg)
c.26267T>G (p.Leu8756Arg)
c.26264T>G (p.Leu8755Arg)
c.26261T>G (p.Leu8754Arg)
c.*84T>G (n.*84T>G)
c.26417T>G (p.Leu8806Arg)
c.26405T>G (p.Leu8802Arg)
c.26255T>G (p.Leu8752Arg)
c.24695T>G (p.Leu8232Arg)
c.24188T>G (p.Leu8063Arg)
c.19655T>G (p.Leu6552Arg)
c.26393T>G (p.Leu8798Arg)
c.26342T>G (p.Leu8781Arg)
c.26306T>G (p.Leu8769Arg)
c.26153T>G (p.Leu8718Arg)
6g.152122557A>GCA366088873ESR1,SYNE1c.2807T>C (p.Leu936Pro)
c.26273T>C (p.Leu8758Pro)
c.26129T>C (p.Leu8710Pro)
c.1616T>C
c.1991T>C
c.1858T>C
c.2123T>C (n.2123T>C)
c.25058T>C (p.Leu8353Pro)
n.3021T>C
c.5049T>C (n.5049T>C)
n.9965T>C
c.4152T>C (n.4152T>C)
n.9857T>C
c.851-2709A>G (n.851-2709A>G)
n.2887T>C
n.6910T>C
c.2738T>C (p.Leu913Pro)
c.26420T>C (p.Leu8807Pro)
c.26408T>C (p.Leu8803Pro)
c.26399T>C (p.Leu8800Pro)
c.26378T>C (p.Leu8793Pro)
c.26369T>C (p.Leu8790Pro)
c.26363T>C (p.Leu8788Pro)
c.26351T>C (p.Leu8784Pro)
c.26348T>C (p.Leu8783Pro)
c.26309T>C (p.Leu8770Pro)
c.26294T>C (p.Leu8765Pro)
c.26279T>C (p.Leu8760Pro)
c.26267T>C (p.Leu8756Pro)
c.26264T>C (p.Leu8755Pro)
c.26261T>C (p.Leu8754Pro)
c.*84T>C (n.*84T>C)
c.26417T>C (p.Leu8806Pro)
c.26405T>C (p.Leu8802Pro)
c.26255T>C (p.Leu8752Pro)
c.24695T>C (p.Leu8232Pro)
c.24188T>C (p.Leu8063Pro)
c.19655T>C (p.Leu6552Pro)
c.26393T>C (p.Leu8798Pro)
c.26342T>C (p.Leu8781Pro)
c.26306T>C (p.Leu8769Pro)
c.26153T>C (p.Leu8718Pro)
6g.152122557A>TCA366088875ESR1,SYNE1c.2807T>A (p.Leu936His)
c.26273T>A (p.Leu8758His)
c.26129T>A (p.Leu8710His)
c.1616T>A
c.1991T>A
c.1858T>A
c.2123T>A (n.2123T>A)
c.25058T>A (p.Leu8353His)
n.3021T>A
c.5049T>A (n.5049T>A)
n.9965T>A
c.4152T>A (n.4152T>A)
n.9857T>A
c.851-2709A>T (n.851-2709A>T)
n.2887T>A
n.6910T>A
c.2738T>A (p.Leu913His)
c.26420T>A (p.Leu8807His)
c.26408T>A (p.Leu8803His)
c.26399T>A (p.Leu8800His)
c.26378T>A (p.Leu8793His)
c.26369T>A (p.Leu8790His)
c.26363T>A (p.Leu8788His)
c.26351T>A (p.Leu8784His)
c.26348T>A (p.Leu8783His)
c.26309T>A (p.Leu8770His)
c.26294T>A (p.Leu8765His)
c.26279T>A (p.Leu8760His)
c.26267T>A (p.Leu8756His)
c.26264T>A (p.Leu8755His)
c.26261T>A (p.Leu8754His)
c.*84T>A (n.*84T>A)
c.26417T>A (p.Leu8806His)
c.26405T>A (p.Leu8802His)
c.26255T>A (p.Leu8752His)
c.24695T>A (p.Leu8232His)
c.24188T>A (p.Leu8063His)
c.19655T>A (p.Leu6552His)
c.26393T>A (p.Leu8798His)
c.26342T>A (p.Leu8781His)
c.26306T>A (p.Leu8769His)
c.26153T>A (p.Leu8718His)
6g.152122558G>ACA366088876ESR1,SYNE1c.2806C>T (p.Leu936Phe)
c.26272C>T (p.Leu8758Phe)
c.26128C>T (p.Leu8710Phe)
c.1615C>T
c.1990C>T
c.1857C>T
c.2122C>T (n.2122C>T)
c.25057C>T (p.Leu8353Phe)
n.3020C>T
c.5048C>T (n.5048C>T)
n.9964C>T
c.4151C>T (n.4151C>T)
n.9856C>T
c.851-2708G>A (n.851-2708G>A)
n.2886C>T
n.6909C>T
c.2737C>T (p.Leu913Phe)
c.26419C>T (p.Leu8807Phe)
c.26407C>T (p.Leu8803Phe)
c.26398C>T (p.Leu8800Phe)
c.26377C>T (p.Leu8793Phe)
c.26368C>T (p.Leu8790Phe)
c.26362C>T (p.Leu8788Phe)
c.26350C>T (p.Leu8784Phe)
c.26347C>T (p.Leu8783Phe)
c.26308C>T (p.Leu8770Phe)
c.26293C>T (p.Leu8765Phe)
c.26278C>T (p.Leu8760Phe)
c.26266C>T (p.Leu8756Phe)
c.26263C>T (p.Leu8755Phe)
c.26260C>T (p.Leu8754Phe)
c.*83C>T (n.*83C>T)
c.26416C>T (p.Leu8806Phe)
c.26404C>T (p.Leu8802Phe)
c.26254C>T (p.Leu8752Phe)
c.24694C>T (p.Leu8232Phe)
c.24187C>T (p.Leu8063Phe)
c.19654C>T (p.Leu6552Phe)
c.26392C>T (p.Leu8798Phe)
c.26341C>T (p.Leu8781Phe)
c.26305C>T (p.Leu8769Phe)
c.26152C>T (p.Leu8718Phe)
 gnomAD v4
6g.152122558G>CCA4052596ESR1,SYNE1c.2806C>G (p.Leu936Val)
c.26272C>G (p.Leu8758Val)
c.26128C>G (p.Leu8710Val)
c.1615C>G
c.1990C>G
c.1857C>G
c.2122C>G (n.2122C>G)
c.25057C>G (p.Leu8353Val)
n.3020C>G
c.5048C>G (n.5048C>G)
n.9964C>G
c.4151C>G (n.4151C>G)
n.9856C>G
c.851-2708G>C (n.851-2708G>C)
n.2886C>G
n.6909C>G
c.2737C>G (p.Leu913Val)
c.26419C>G (p.Leu8807Val)
c.26407C>G (p.Leu8803Val)
c.26398C>G (p.Leu8800Val)
c.26377C>G (p.Leu8793Val)
c.26368C>G (p.Leu8790Val)
c.26362C>G (p.Leu8788Val)
c.26350C>G (p.Leu8784Val)
c.26347C>G (p.Leu8783Val)
c.26308C>G (p.Leu8770Val)
c.26293C>G (p.Leu8765Val)
c.26278C>G (p.Leu8760Val)
c.26266C>G (p.Leu8756Val)
c.26263C>G (p.Leu8755Val)
c.26260C>G (p.Leu8754Val)
c.*83C>G (n.*83C>G)
c.26416C>G (p.Leu8806Val)
c.26404C>G (p.Leu8802Val)
c.26254C>G (p.Leu8752Val)
c.24694C>G (p.Leu8232Val)
c.24187C>G (p.Leu8063Val)
c.19654C>G (p.Leu6552Val)
c.26392C>G (p.Leu8798Val)
c.26341C>G (p.Leu8781Val)
c.26305C>G (p.Leu8769Val)
c.26152C>G (p.Leu8718Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122558G=CA1673189006ESR1,SYNE1c.2806C= (p.Leu936=)
c.26272C= (p.Leu8758=)
c.26128C= (p.Leu8710=)
c.1615C=
c.1990C=
c.1857C=
c.2122C= (n.2122C=)
c.25057C= (p.Leu8353=)
n.3020C=
c.5048C= (n.5048C=)
n.9964C=
c.4151C= (n.4151C=)
n.9856C=
c.851-2708G= (n.851-2708G=)
n.2886C=
n.6909C=
c.2737C= (p.Leu913=)
c.26419C= (p.Leu8807=)
c.26407C= (p.Leu8803=)
c.26398C= (p.Leu8800=)
c.26377C= (p.Leu8793=)
c.26368C= (p.Leu8790=)
c.26362C= (p.Leu8788=)
c.26350C= (p.Leu8784=)
c.26347C= (p.Leu8783=)
c.26308C= (p.Leu8770=)
c.26293C= (p.Leu8765=)
c.26278C= (p.Leu8760=)
c.26266C= (p.Leu8756=)
c.26263C= (p.Leu8755=)
c.26260C= (p.Leu8754=)
c.*83C= (n.*83C=)
c.26416C= (p.Leu8806=)
c.26404C= (p.Leu8802=)
c.26254C= (p.Leu8752=)
c.24694C= (p.Leu8232=)
c.24187C= (p.Leu8063=)
c.19654C= (p.Leu6552=)
c.26392C= (p.Leu8798=)
c.26341C= (p.Leu8781=)
c.26305C= (p.Leu8769=)
c.26152C= (p.Leu8718=)
6g.152122558G>TCA366088878ESR1,SYNE1c.2806C>A (p.Leu936Ile)
c.26272C>A (p.Leu8758Ile)
c.26128C>A (p.Leu8710Ile)
c.1615C>A
c.1990C>A
c.1857C>A
c.2122C>A (n.2122C>A)
c.25057C>A (p.Leu8353Ile)
n.3020C>A
c.5048C>A (n.5048C>A)
n.9964C>A
c.4151C>A (n.4151C>A)
n.9856C>A
c.851-2708G>T (n.851-2708G>T)
n.2886C>A
n.6909C>A
c.2737C>A (p.Leu913Ile)
c.26419C>A (p.Leu8807Ile)
c.26407C>A (p.Leu8803Ile)
c.26398C>A (p.Leu8800Ile)
c.26377C>A (p.Leu8793Ile)
c.26368C>A (p.Leu8790Ile)
c.26362C>A (p.Leu8788Ile)
c.26350C>A (p.Leu8784Ile)
c.26347C>A (p.Leu8783Ile)
c.26308C>A (p.Leu8770Ile)
c.26293C>A (p.Leu8765Ile)
c.26278C>A (p.Leu8760Ile)
c.26266C>A (p.Leu8756Ile)
c.26263C>A (p.Leu8755Ile)
c.26260C>A (p.Leu8754Ile)
c.*83C>A (n.*83C>A)
c.26416C>A (p.Leu8806Ile)
c.26404C>A (p.Leu8802Ile)
c.26254C>A (p.Leu8752Ile)
c.24694C>A (p.Leu8232Ile)
c.24187C>A (p.Leu8063Ile)
c.19654C>A (p.Leu6552Ile)
c.26392C>A (p.Leu8798Ile)
c.26341C>A (p.Leu8781Ile)
c.26305C>A (p.Leu8769Ile)
c.26152C>A (p.Leu8718Ile)
6g.152122559G>ACA452969702ESR1,SYNE1c.2805C>T (p.Leu935=)
c.26271C>T (p.Leu8757=)
c.26127C>T (p.Leu8709=)
c.1614C>T
c.1989C>T
c.1856C>T
c.2121C>T (n.2121C>T)
c.25056C>T (p.Leu8352=)
n.3019C>T
c.5047C>T (n.5047C>T)
n.9963C>T
c.4150C>T (n.4150C>T)
n.9855C>T
c.851-2707G>A (n.851-2707G>A)
n.2885C>T
n.6908C>T
c.2736C>T (p.Leu912=)
c.26418C>T (p.Leu8806=)
c.26406C>T (p.Leu8802=)
c.26397C>T (p.Leu8799=)
c.26376C>T (p.Leu8792=)
c.26367C>T (p.Leu8789=)
c.26361C>T (p.Leu8787=)
c.26349C>T (p.Leu8783=)
c.26346C>T (p.Leu8782=)
c.26307C>T (p.Leu8769=)
c.26292C>T (p.Leu8764=)
c.26277C>T (p.Leu8759=)
c.26265C>T (p.Leu8755=)
c.26262C>T (p.Leu8754=)
c.26259C>T (p.Leu8753=)
c.*82C>T (n.*82C>T)
c.26415C>T (p.Leu8805=)
c.26403C>T (p.Leu8801=)
c.26253C>T (p.Leu8751=)
c.24693C>T (p.Leu8231=)
c.24186C>T (p.Leu8062=)
c.19653C>T (p.Leu6551=)
c.26391C>T (p.Leu8797=)
c.26340C>T (p.Leu8780=)
c.26304C>T (p.Leu8768=)
c.26151C>T (p.Leu8717=)
6g.152122559G>CCA452969704ESR1,SYNE1c.2805C>G (p.Leu935=)
c.26271C>G (p.Leu8757=)
c.26127C>G (p.Leu8709=)
c.1614C>G
c.1989C>G
c.1856C>G
c.2121C>G (n.2121C>G)
c.25056C>G (p.Leu8352=)
n.3019C>G
c.5047C>G (n.5047C>G)
n.9963C>G
c.4150C>G (n.4150C>G)
n.9855C>G
c.851-2707G>C (n.851-2707G>C)
n.2885C>G
n.6908C>G
c.2736C>G (p.Leu912=)
c.26418C>G (p.Leu8806=)
c.26406C>G (p.Leu8802=)
c.26397C>G (p.Leu8799=)
c.26376C>G (p.Leu8792=)
c.26367C>G (p.Leu8789=)
c.26361C>G (p.Leu8787=)
c.26349C>G (p.Leu8783=)
c.26346C>G (p.Leu8782=)
c.26307C>G (p.Leu8769=)
c.26292C>G (p.Leu8764=)
c.26277C>G (p.Leu8759=)
c.26265C>G (p.Leu8755=)
c.26262C>G (p.Leu8754=)
c.26259C>G (p.Leu8753=)
c.*82C>G (n.*82C>G)
c.26415C>G (p.Leu8805=)
c.26403C>G (p.Leu8801=)
c.26253C>G (p.Leu8751=)
c.24693C>G (p.Leu8231=)
c.24186C>G (p.Leu8062=)
c.19653C>G (p.Leu6551=)
c.26391C>G (p.Leu8797=)
c.26340C>G (p.Leu8780=)
c.26304C>G (p.Leu8768=)
c.26151C>G (p.Leu8717=)
 gnomAD v4
6g.152122559G>TCA452969706ESR1,SYNE1c.2805C>A (p.Leu935=)
c.26271C>A (p.Leu8757=)
c.26127C>A (p.Leu8709=)
c.1614C>A
c.1989C>A
c.1856C>A
c.2121C>A (n.2121C>A)
c.25056C>A (p.Leu8352=)
n.3019C>A
c.5047C>A (n.5047C>A)
n.9963C>A
c.4150C>A (n.4150C>A)
n.9855C>A
c.851-2707G>T (n.851-2707G>T)
n.2885C>A
n.6908C>A
c.2736C>A (p.Leu912=)
c.26418C>A (p.Leu8806=)
c.26406C>A (p.Leu8802=)
c.26397C>A (p.Leu8799=)
c.26376C>A (p.Leu8792=)
c.26367C>A (p.Leu8789=)
c.26361C>A (p.Leu8787=)
c.26349C>A (p.Leu8783=)
c.26346C>A (p.Leu8782=)
c.26307C>A (p.Leu8769=)
c.26292C>A (p.Leu8764=)
c.26277C>A (p.Leu8759=)
c.26265C>A (p.Leu8755=)
c.26262C>A (p.Leu8754=)
c.26259C>A (p.Leu8753=)
c.*82C>A (n.*82C>A)
c.26415C>A (p.Leu8805=)
c.26403C>A (p.Leu8801=)
c.26253C>A (p.Leu8751=)
c.24693C>A (p.Leu8231=)
c.24186C>A (p.Leu8062=)
c.19653C>A (p.Leu6551=)
c.26391C>A (p.Leu8797=)
c.26340C>A (p.Leu8780=)
c.26304C>A (p.Leu8768=)
c.26151C>A (p.Leu8717=)
6g.152122560A>CCA366088880ESR1,SYNE1c.2804T>G (p.Leu935Arg)
c.26270T>G (p.Leu8757Arg)
c.26126T>G (p.Leu8709Arg)
c.1613T>G
c.1988T>G
c.1855T>G
c.2120T>G (n.2120T>G)
c.25055T>G (p.Leu8352Arg)
n.3018T>G
c.5046T>G (n.5046T>G)
n.9962T>G
c.4149T>G (n.4149T>G)
n.9854T>G
c.851-2706A>C (n.851-2706A>C)
n.2884T>G
n.6907T>G
c.2735T>G (p.Leu912Arg)
c.26417T>G (p.Leu8806Arg)
c.26405T>G (p.Leu8802Arg)
c.26396T>G (p.Leu8799Arg)
c.26375T>G (p.Leu8792Arg)
c.26366T>G (p.Leu8789Arg)
c.26360T>G (p.Leu8787Arg)
c.26348T>G (p.Leu8783Arg)
c.26345T>G (p.Leu8782Arg)
c.26306T>G (p.Leu8769Arg)
c.26291T>G (p.Leu8764Arg)
c.26276T>G (p.Leu8759Arg)
c.26264T>G (p.Leu8755Arg)
c.26261T>G (p.Leu8754Arg)
c.26258T>G (p.Leu8753Arg)
c.*81T>G (n.*81T>G)
c.26414T>G (p.Leu8805Arg)
c.26402T>G (p.Leu8801Arg)
c.26252T>G (p.Leu8751Arg)
c.24692T>G (p.Leu8231Arg)
c.24185T>G (p.Leu8062Arg)
c.19652T>G (p.Leu6551Arg)
c.26390T>G (p.Leu8797Arg)
c.26339T>G (p.Leu8780Arg)
c.26303T>G (p.Leu8768Arg)
c.26150T>G (p.Leu8717Arg)
6g.152122560A>GCA366088884ESR1,SYNE1c.2804T>C (p.Leu935Pro)
c.26270T>C (p.Leu8757Pro)
c.26126T>C (p.Leu8709Pro)
c.1613T>C
c.1988T>C
c.1855T>C
c.2120T>C (n.2120T>C)
c.25055T>C (p.Leu8352Pro)
n.3018T>C
c.5046T>C (n.5046T>C)
n.9962T>C
c.4149T>C (n.4149T>C)
n.9854T>C
c.851-2706A>G (n.851-2706A>G)
n.2884T>C
n.6907T>C
c.2735T>C (p.Leu912Pro)
c.26417T>C (p.Leu8806Pro)
c.26405T>C (p.Leu8802Pro)
c.26396T>C (p.Leu8799Pro)
c.26375T>C (p.Leu8792Pro)
c.26366T>C (p.Leu8789Pro)
c.26360T>C (p.Leu8787Pro)
c.26348T>C (p.Leu8783Pro)
c.26345T>C (p.Leu8782Pro)
c.26306T>C (p.Leu8769Pro)
c.26291T>C (p.Leu8764Pro)
c.26276T>C (p.Leu8759Pro)
c.26264T>C (p.Leu8755Pro)
c.26261T>C (p.Leu8754Pro)
c.26258T>C (p.Leu8753Pro)
c.*81T>C (n.*81T>C)
c.26414T>C (p.Leu8805Pro)
c.26402T>C (p.Leu8801Pro)
c.26252T>C (p.Leu8751Pro)
c.24692T>C (p.Leu8231Pro)
c.24185T>C (p.Leu8062Pro)
c.19652T>C (p.Leu6551Pro)
c.26390T>C (p.Leu8797Pro)
c.26339T>C (p.Leu8780Pro)
c.26303T>C (p.Leu8768Pro)
c.26150T>C (p.Leu8717Pro)
6g.152122560A>TCA366088881ESR1,SYNE1c.2804T>A (p.Leu935His)
c.26270T>A (p.Leu8757His)
c.26126T>A (p.Leu8709His)
c.1613T>A
c.1988T>A
c.1855T>A
c.2120T>A (n.2120T>A)
c.25055T>A (p.Leu8352His)
n.3018T>A
c.5046T>A (n.5046T>A)
n.9962T>A
c.4149T>A (n.4149T>A)
n.9854T>A
c.851-2706A>T (n.851-2706A>T)
n.2884T>A
n.6907T>A
c.2735T>A (p.Leu912His)
c.26417T>A (p.Leu8806His)
c.26405T>A (p.Leu8802His)
c.26396T>A (p.Leu8799His)
c.26375T>A (p.Leu8792His)
c.26366T>A (p.Leu8789His)
c.26360T>A (p.Leu8787His)
c.26348T>A (p.Leu8783His)
c.26345T>A (p.Leu8782His)
c.26306T>A (p.Leu8769His)
c.26291T>A (p.Leu8764His)
c.26276T>A (p.Leu8759His)
c.26264T>A (p.Leu8755His)
c.26261T>A (p.Leu8754His)
c.26258T>A (p.Leu8753His)
c.*81T>A (n.*81T>A)
c.26414T>A (p.Leu8805His)
c.26402T>A (p.Leu8801His)
c.26252T>A (p.Leu8751His)
c.24692T>A (p.Leu8231His)
c.24185T>A (p.Leu8062His)
c.19652T>A (p.Leu6551His)
c.26390T>A (p.Leu8797His)
c.26339T>A (p.Leu8780His)
c.26303T>A (p.Leu8768His)
c.26150T>A (p.Leu8717His)
6g.152122561G>ACA366088886ESR1,SYNE1c.2803C>T (p.Leu935Phe)
c.26269C>T (p.Leu8757Phe)
c.26125C>T (p.Leu8709Phe)
c.1612C>T
c.1987C>T
c.1854C>T
c.2119C>T (n.2119C>T)
c.25054C>T (p.Leu8352Phe)
n.3017C>T
c.5045C>T (n.5045C>T)
n.9961C>T
c.4148C>T (n.4148C>T)
n.9853C>T
c.851-2705G>A (n.851-2705G>A)
n.2883C>T
n.6906C>T
c.2734C>T (p.Leu912Phe)
c.26416C>T (p.Leu8806Phe)
c.26404C>T (p.Leu8802Phe)
c.26395C>T (p.Leu8799Phe)
c.26374C>T (p.Leu8792Phe)
c.26365C>T (p.Leu8789Phe)
c.26359C>T (p.Leu8787Phe)
c.26347C>T (p.Leu8783Phe)
c.26344C>T (p.Leu8782Phe)
c.26305C>T (p.Leu8769Phe)
c.26290C>T (p.Leu8764Phe)
c.26275C>T (p.Leu8759Phe)
c.26263C>T (p.Leu8755Phe)
c.26260C>T (p.Leu8754Phe)
c.26257C>T (p.Leu8753Phe)
c.*80C>T (n.*80C>T)
c.26413C>T (p.Leu8805Phe)
c.26401C>T (p.Leu8801Phe)
c.26251C>T (p.Leu8751Phe)
c.24691C>T (p.Leu8231Phe)
c.24184C>T (p.Leu8062Phe)
c.19651C>T (p.Leu6551Phe)
c.26389C>T (p.Leu8797Phe)
c.26338C>T (p.Leu8780Phe)
c.26302C>T (p.Leu8768Phe)
c.26149C>T (p.Leu8717Phe)
6g.152122561G>CCA366088888ESR1,SYNE1c.2803C>G (p.Leu935Val)
c.26269C>G (p.Leu8757Val)
c.26125C>G (p.Leu8709Val)
c.1612C>G
c.1987C>G
c.1854C>G
c.2119C>G (n.2119C>G)
c.25054C>G (p.Leu8352Val)
n.3017C>G
c.5045C>G (n.5045C>G)
n.9961C>G
c.4148C>G (n.4148C>G)
n.9853C>G
c.851-2705G>C (n.851-2705G>C)
n.2883C>G
n.6906C>G
c.2734C>G (p.Leu912Val)
c.26416C>G (p.Leu8806Val)
c.26404C>G (p.Leu8802Val)
c.26395C>G (p.Leu8799Val)
c.26374C>G (p.Leu8792Val)
c.26365C>G (p.Leu8789Val)
c.26359C>G (p.Leu8787Val)
c.26347C>G (p.Leu8783Val)
c.26344C>G (p.Leu8782Val)
c.26305C>G (p.Leu8769Val)
c.26290C>G (p.Leu8764Val)
c.26275C>G (p.Leu8759Val)
c.26263C>G (p.Leu8755Val)
c.26260C>G (p.Leu8754Val)
c.26257C>G (p.Leu8753Val)
c.*80C>G (n.*80C>G)
c.26413C>G (p.Leu8805Val)
c.26401C>G (p.Leu8801Val)
c.26251C>G (p.Leu8751Val)
c.24691C>G (p.Leu8231Val)
c.24184C>G (p.Leu8062Val)
c.19651C>G (p.Leu6551Val)
c.26389C>G (p.Leu8797Val)
c.26338C>G (p.Leu8780Val)
c.26302C>G (p.Leu8768Val)
c.26149C>G (p.Leu8717Val)
6g.152122561G>TCA366088889ESR1,SYNE1c.2803C>A (p.Leu935Ile)
c.26269C>A (p.Leu8757Ile)
c.26125C>A (p.Leu8709Ile)
c.1612C>A
c.1987C>A
c.1854C>A
c.2119C>A (n.2119C>A)
c.25054C>A (p.Leu8352Ile)
n.3017C>A
c.5045C>A (n.5045C>A)
n.9961C>A
c.4148C>A (n.4148C>A)
n.9853C>A
c.851-2705G>T (n.851-2705G>T)
n.2883C>A
n.6906C>A
c.2734C>A (p.Leu912Ile)
c.26416C>A (p.Leu8806Ile)
c.26404C>A (p.Leu8802Ile)
c.26395C>A (p.Leu8799Ile)
c.26374C>A (p.Leu8792Ile)
c.26365C>A (p.Leu8789Ile)
c.26359C>A (p.Leu8787Ile)
c.26347C>A (p.Leu8783Ile)
c.26344C>A (p.Leu8782Ile)
c.26305C>A (p.Leu8769Ile)
c.26290C>A (p.Leu8764Ile)
c.26275C>A (p.Leu8759Ile)
c.26263C>A (p.Leu8755Ile)
c.26260C>A (p.Leu8754Ile)
c.26257C>A (p.Leu8753Ile)
c.*80C>A (n.*80C>A)
c.26413C>A (p.Leu8805Ile)
c.26401C>A (p.Leu8801Ile)
c.26251C>A (p.Leu8751Ile)
c.24691C>A (p.Leu8231Ile)
c.24184C>A (p.Leu8062Ile)
c.19651C>A (p.Leu6551Ile)
c.26389C>A (p.Leu8797Ile)
c.26338C>A (p.Leu8780Ile)
c.26302C>A (p.Leu8768Ile)
c.26149C>A (p.Leu8717Ile)
 gnomAD v4
6g.152122562G>ACA4052597ESR1,SYNE1c.2802C>T (p.Leu934=)
c.26268C>T (p.Leu8756=)
c.26124C>T (p.Leu8708=)
c.1611C>T
c.1986C>T
c.1853C>T
c.2118C>T (n.2118C>T)
c.25053C>T (p.Leu8351=)
n.3016C>T
c.5044C>T (n.5044C>T)
n.9960C>T
c.4147C>T (n.4147C>T)
n.9852C>T
c.851-2704G>A (n.851-2704G>A)
n.2882C>T
n.6905C>T
c.2733C>T (p.Leu911=)
c.26415C>T (p.Leu8805=)
c.26403C>T (p.Leu8801=)
c.26394C>T (p.Leu8798=)
c.26373C>T (p.Leu8791=)
c.26364C>T (p.Leu8788=)
c.26358C>T (p.Leu8786=)
c.26346C>T (p.Leu8782=)
c.26343C>T (p.Leu8781=)
c.26304C>T (p.Leu8768=)
c.26289C>T (p.Leu8763=)
c.26274C>T (p.Leu8758=)
c.26262C>T (p.Leu8754=)
c.26259C>T (p.Leu8753=)
c.26256C>T (p.Leu8752=)
c.*79C>T (n.*79C>T)
c.26412C>T (p.Leu8804=)
c.26400C>T (p.Leu8800=)
c.26250C>T (p.Leu8750=)
c.24690C>T (p.Leu8230=)
c.24183C>T (p.Leu8061=)
c.19650C>T (p.Leu6550=)
c.26388C>T (p.Leu8796=)
c.26337C>T (p.Leu8779=)
c.26301C>T (p.Leu8767=)
c.26148C>T (p.Leu8716=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122562G>CCA452969707ESR1,SYNE1c.2802C>G (p.Leu934=)
c.26268C>G (p.Leu8756=)
c.26124C>G (p.Leu8708=)
c.1611C>G
c.1986C>G
c.1853C>G
c.2118C>G (n.2118C>G)
c.25053C>G (p.Leu8351=)
n.3016C>G
c.5044C>G (n.5044C>G)
n.9960C>G
c.4147C>G (n.4147C>G)
n.9852C>G
c.851-2704G>C (n.851-2704G>C)
n.2882C>G
n.6905C>G
c.2733C>G (p.Leu911=)
c.26415C>G (p.Leu8805=)
c.26403C>G (p.Leu8801=)
c.26394C>G (p.Leu8798=)
c.26373C>G (p.Leu8791=)
c.26364C>G (p.Leu8788=)
c.26358C>G (p.Leu8786=)
c.26346C>G (p.Leu8782=)
c.26343C>G (p.Leu8781=)
c.26304C>G (p.Leu8768=)
c.26289C>G (p.Leu8763=)
c.26274C>G (p.Leu8758=)
c.26262C>G (p.Leu8754=)
c.26259C>G (p.Leu8753=)
c.26256C>G (p.Leu8752=)
c.*79C>G (n.*79C>G)
c.26412C>G (p.Leu8804=)
c.26400C>G (p.Leu8800=)
c.26250C>G (p.Leu8750=)
c.24690C>G (p.Leu8230=)
c.24183C>G (p.Leu8061=)
c.19650C>G (p.Leu6550=)
c.26388C>G (p.Leu8796=)
c.26337C>G (p.Leu8779=)
c.26301C>G (p.Leu8767=)
c.26148C>G (p.Leu8716=)
6g.152122562G=CA1673189014ESR1,SYNE1c.2802C= (p.Leu934=)
c.26268C= (p.Leu8756=)
c.26124C= (p.Leu8708=)
c.1611C=
c.1986C=
c.1853C=
c.2118C= (n.2118C=)
c.25053C= (p.Leu8351=)
n.3016C=
c.5044C= (n.5044C=)
n.9960C=
c.4147C= (n.4147C=)
n.9852C=
c.851-2704G= (n.851-2704G=)
n.2882C=
n.6905C=
c.2733C= (p.Leu911=)
c.26415C= (p.Leu8805=)
c.26403C= (p.Leu8801=)
c.26394C= (p.Leu8798=)
c.26373C= (p.Leu8791=)
c.26364C= (p.Leu8788=)
c.26358C= (p.Leu8786=)
c.26346C= (p.Leu8782=)
c.26343C= (p.Leu8781=)
c.26304C= (p.Leu8768=)
c.26289C= (p.Leu8763=)
c.26274C= (p.Leu8758=)
c.26262C= (p.Leu8754=)
c.26259C= (p.Leu8753=)
c.26256C= (p.Leu8752=)
c.*79C= (n.*79C=)
c.26412C= (p.Leu8804=)
c.26400C= (p.Leu8800=)
c.26250C= (p.Leu8750=)
c.24690C= (p.Leu8230=)
c.24183C= (p.Leu8061=)
c.19650C= (p.Leu6550=)
c.26388C= (p.Leu8796=)
c.26337C= (p.Leu8779=)
c.26301C= (p.Leu8767=)
c.26148C= (p.Leu8716=)
6g.152122562G>TCA452969708ESR1,SYNE1c.2802C>A (p.Leu934=)
c.26268C>A (p.Leu8756=)
c.26124C>A (p.Leu8708=)
c.1611C>A
c.1986C>A
c.1853C>A
c.2118C>A (n.2118C>A)
c.25053C>A (p.Leu8351=)
n.3016C>A
c.5044C>A (n.5044C>A)
n.9960C>A
c.4147C>A (n.4147C>A)
n.9852C>A
c.851-2704G>T (n.851-2704G>T)
n.2882C>A
n.6905C>A
c.2733C>A (p.Leu911=)
c.26415C>A (p.Leu8805=)
c.26403C>A (p.Leu8801=)
c.26394C>A (p.Leu8798=)
c.26373C>A (p.Leu8791=)
c.26364C>A (p.Leu8788=)
c.26358C>A (p.Leu8786=)
c.26346C>A (p.Leu8782=)
c.26343C>A (p.Leu8781=)
c.26304C>A (p.Leu8768=)
c.26289C>A (p.Leu8763=)
c.26274C>A (p.Leu8758=)
c.26262C>A (p.Leu8754=)
c.26259C>A (p.Leu8753=)
c.26256C>A (p.Leu8752=)
c.*79C>A (n.*79C>A)
c.26412C>A (p.Leu8804=)
c.26400C>A (p.Leu8800=)
c.26250C>A (p.Leu8750=)
c.24690C>A (p.Leu8230=)
c.24183C>A (p.Leu8061=)
c.19650C>A (p.Leu6550=)
c.26388C>A (p.Leu8796=)
c.26337C>A (p.Leu8779=)
c.26301C>A (p.Leu8767=)
c.26148C>A (p.Leu8716=)
6g.152122563A>CCA366088892ESR1,SYNE1c.2801T>G (p.Leu934Arg)
c.26267T>G (p.Leu8756Arg)
c.26123T>G (p.Leu8708Arg)
c.1610T>G
c.1985T>G
c.1852T>G
c.2117T>G (n.2117T>G)
c.25052T>G (p.Leu8351Arg)
n.3015T>G
c.5043T>G (n.5043T>G)
n.9959T>G
c.4146T>G (n.4146T>G)
n.9851T>G
c.851-2703A>C (n.851-2703A>C)
n.2881T>G
n.6904T>G
c.2732T>G (p.Leu911Arg)
c.26414T>G (p.Leu8805Arg)
c.26402T>G (p.Leu8801Arg)
c.26393T>G (p.Leu8798Arg)
c.26372T>G (p.Leu8791Arg)
c.26363T>G (p.Leu8788Arg)
c.26357T>G (p.Leu8786Arg)
c.26345T>G (p.Leu8782Arg)
c.26342T>G (p.Leu8781Arg)
c.26303T>G (p.Leu8768Arg)
c.26288T>G (p.Leu8763Arg)
c.26273T>G (p.Leu8758Arg)
c.26261T>G (p.Leu8754Arg)
c.26258T>G (p.Leu8753Arg)
c.26255T>G (p.Leu8752Arg)
c.*78T>G (n.*78T>G)
c.26411T>G (p.Leu8804Arg)
c.26399T>G (p.Leu8800Arg)
c.26249T>G (p.Leu8750Arg)
c.24689T>G (p.Leu8230Arg)
c.24182T>G (p.Leu8061Arg)
c.19649T>G (p.Leu6550Arg)
c.26387T>G (p.Leu8796Arg)
c.26336T>G (p.Leu8779Arg)
c.26300T>G (p.Leu8767Arg)
c.26147T>G (p.Leu8716Arg)
6g.152122563A>GCA366088894ESR1,SYNE1c.2801T>C (p.Leu934Pro)
c.26267T>C (p.Leu8756Pro)
c.26123T>C (p.Leu8708Pro)
c.1610T>C
c.1985T>C
c.1852T>C
c.2117T>C (n.2117T>C)
c.25052T>C (p.Leu8351Pro)
n.3015T>C
c.5043T>C (n.5043T>C)
n.9959T>C
c.4146T>C (n.4146T>C)
n.9851T>C
c.851-2703A>G (n.851-2703A>G)
n.2881T>C
n.6904T>C
c.2732T>C (p.Leu911Pro)
c.26414T>C (p.Leu8805Pro)
c.26402T>C (p.Leu8801Pro)
c.26393T>C (p.Leu8798Pro)
c.26372T>C (p.Leu8791Pro)
c.26363T>C (p.Leu8788Pro)
c.26357T>C (p.Leu8786Pro)
c.26345T>C (p.Leu8782Pro)
c.26342T>C (p.Leu8781Pro)
c.26303T>C (p.Leu8768Pro)
c.26288T>C (p.Leu8763Pro)
c.26273T>C (p.Leu8758Pro)
c.26261T>C (p.Leu8754Pro)
c.26258T>C (p.Leu8753Pro)
c.26255T>C (p.Leu8752Pro)
c.*78T>C (n.*78T>C)
c.26411T>C (p.Leu8804Pro)
c.26399T>C (p.Leu8800Pro)
c.26249T>C (p.Leu8750Pro)
c.24689T>C (p.Leu8230Pro)
c.24182T>C (p.Leu8061Pro)
c.19649T>C (p.Leu6550Pro)
c.26387T>C (p.Leu8796Pro)
c.26336T>C (p.Leu8779Pro)
c.26300T>C (p.Leu8767Pro)
c.26147T>C (p.Leu8716Pro)
 ClinVar
6g.152122563A>TCA366088896ESR1,SYNE1c.2801T>A (p.Leu934His)
c.26267T>A (p.Leu8756His)
c.26123T>A (p.Leu8708His)
c.1610T>A
c.1985T>A
c.1852T>A
c.2117T>A (n.2117T>A)
c.25052T>A (p.Leu8351His)
n.3015T>A
c.5043T>A (n.5043T>A)
n.9959T>A
c.4146T>A (n.4146T>A)
n.9851T>A
c.851-2703A>T (n.851-2703A>T)
n.2881T>A
n.6904T>A
c.2732T>A (p.Leu911His)
c.26414T>A (p.Leu8805His)
c.26402T>A (p.Leu8801His)
c.26393T>A (p.Leu8798His)
c.26372T>A (p.Leu8791His)
c.26363T>A (p.Leu8788His)
c.26357T>A (p.Leu8786His)
c.26345T>A (p.Leu8782His)
c.26342T>A (p.Leu8781His)
c.26303T>A (p.Leu8768His)
c.26288T>A (p.Leu8763His)
c.26273T>A (p.Leu8758His)
c.26261T>A (p.Leu8754His)
c.26258T>A (p.Leu8753His)
c.26255T>A (p.Leu8752His)
c.*78T>A (n.*78T>A)
c.26411T>A (p.Leu8804His)
c.26399T>A (p.Leu8800His)
c.26249T>A (p.Leu8750His)
c.24689T>A (p.Leu8230His)
c.24182T>A (p.Leu8061His)
c.19649T>A (p.Leu6550His)
c.26387T>A (p.Leu8796His)
c.26336T>A (p.Leu8779His)
c.26300T>A (p.Leu8767His)
c.26147T>A (p.Leu8716His)
6g.152122564G>ACA366088898ESR1,SYNE1c.2800C>T (p.Leu934Phe)
c.26266C>T (p.Leu8756Phe)
c.26122C>T (p.Leu8708Phe)
c.1609C>T
c.1984C>T
c.1851C>T
c.2116C>T (n.2116C>T)
c.25051C>T (p.Leu8351Phe)
n.3014C>T
c.5042C>T (n.5042C>T)
n.9958C>T
c.4145C>T (n.4145C>T)
n.9850C>T
c.851-2702G>A (n.851-2702G>A)
n.2880C>T
n.6903C>T
c.2731C>T (p.Leu911Phe)
c.26413C>T (p.Leu8805Phe)
c.26401C>T (p.Leu8801Phe)
c.26392C>T (p.Leu8798Phe)
c.26371C>T (p.Leu8791Phe)
c.26362C>T (p.Leu8788Phe)
c.26356C>T (p.Leu8786Phe)
c.26344C>T (p.Leu8782Phe)
c.26341C>T (p.Leu8781Phe)
c.26302C>T (p.Leu8768Phe)
c.26287C>T (p.Leu8763Phe)
c.26272C>T (p.Leu8758Phe)
c.26260C>T (p.Leu8754Phe)
c.26257C>T (p.Leu8753Phe)
c.26254C>T (p.Leu8752Phe)
c.*77C>T (n.*77C>T)
c.26410C>T (p.Leu8804Phe)
c.26398C>T (p.Leu8800Phe)
c.26248C>T (p.Leu8750Phe)
c.24688C>T (p.Leu8230Phe)
c.24181C>T (p.Leu8061Phe)
c.19648C>T (p.Leu6550Phe)
c.26386C>T (p.Leu8796Phe)
c.26335C>T (p.Leu8779Phe)
c.26299C>T (p.Leu8767Phe)
c.26146C>T (p.Leu8716Phe)
6g.152122564G>CCA366088900ESR1,SYNE1c.2800C>G (p.Leu934Val)
c.26266C>G (p.Leu8756Val)
c.26122C>G (p.Leu8708Val)
c.1609C>G
c.1984C>G
c.1851C>G
c.2116C>G (n.2116C>G)
c.25051C>G (p.Leu8351Val)
n.3014C>G
c.5042C>G (n.5042C>G)
n.9958C>G
c.4145C>G (n.4145C>G)
n.9850C>G
c.851-2702G>C (n.851-2702G>C)
n.2880C>G
n.6903C>G
c.2731C>G (p.Leu911Val)
c.26413C>G (p.Leu8805Val)
c.26401C>G (p.Leu8801Val)
c.26392C>G (p.Leu8798Val)
c.26371C>G (p.Leu8791Val)
c.26362C>G (p.Leu8788Val)
c.26356C>G (p.Leu8786Val)
c.26344C>G (p.Leu8782Val)
c.26341C>G (p.Leu8781Val)
c.26302C>G (p.Leu8768Val)
c.26287C>G (p.Leu8763Val)
c.26272C>G (p.Leu8758Val)
c.26260C>G (p.Leu8754Val)
c.26257C>G (p.Leu8753Val)
c.26254C>G (p.Leu8752Val)
c.*77C>G (n.*77C>G)
c.26410C>G (p.Leu8804Val)
c.26398C>G (p.Leu8800Val)
c.26248C>G (p.Leu8750Val)
c.24688C>G (p.Leu8230Val)
c.24181C>G (p.Leu8061Val)
c.19648C>G (p.Leu6550Val)
c.26386C>G (p.Leu8796Val)
c.26335C>G (p.Leu8779Val)
c.26299C>G (p.Leu8767Val)
c.26146C>G (p.Leu8716Val)
6g.152122564G>TCA366088902ESR1,SYNE1c.2800C>A (p.Leu934Ile)
c.26266C>A (p.Leu8756Ile)
c.26122C>A (p.Leu8708Ile)
c.1609C>A
c.1984C>A
c.1851C>A
c.2116C>A (n.2116C>A)
c.25051C>A (p.Leu8351Ile)
n.3014C>A
c.5042C>A (n.5042C>A)
n.9958C>A
c.4145C>A (n.4145C>A)
n.9850C>A
c.851-2702G>T (n.851-2702G>T)
n.2880C>A
n.6903C>A
c.2731C>A (p.Leu911Ile)
c.26413C>A (p.Leu8805Ile)
c.26401C>A (p.Leu8801Ile)
c.26392C>A (p.Leu8798Ile)
c.26371C>A (p.Leu8791Ile)
c.26362C>A (p.Leu8788Ile)
c.26356C>A (p.Leu8786Ile)
c.26344C>A (p.Leu8782Ile)
c.26341C>A (p.Leu8781Ile)
c.26302C>A (p.Leu8768Ile)
c.26287C>A (p.Leu8763Ile)
c.26272C>A (p.Leu8758Ile)
c.26260C>A (p.Leu8754Ile)
c.26257C>A (p.Leu8753Ile)
c.26254C>A (p.Leu8752Ile)
c.*77C>A (n.*77C>A)
c.26410C>A (p.Leu8804Ile)
c.26398C>A (p.Leu8800Ile)
c.26248C>A (p.Leu8750Ile)
c.24688C>A (p.Leu8230Ile)
c.24181C>A (p.Leu8061Ile)
c.19648C>A (p.Leu6550Ile)
c.26386C>A (p.Leu8796Ile)
c.26335C>A (p.Leu8779Ile)
c.26299C>A (p.Leu8767Ile)
c.26146C>A (p.Leu8716Ile)
6g.152122565C>ACA452969710ESR1,SYNE1c.2799G>T (p.Leu933=)
c.26265G>T (p.Leu8755=)
c.26121G>T (p.Leu8707=)
c.1608G>T
c.1983G>T
c.1850G>T
c.2115G>T (n.2115G>T)
c.25050G>T (p.Leu8350=)
n.3013G>T
c.5041G>T (n.5041G>T)
n.9957G>T
c.4144G>T (n.4144G>T)
n.9849G>T
c.851-2701C>A (n.851-2701C>A)
n.2879G>T
n.6902G>T
c.2730G>T (p.Leu910=)
c.26412G>T (p.Leu8804=)
c.26400G>T (p.Leu8800=)
c.26391G>T (p.Leu8797=)
c.26370G>T (p.Leu8790=)
c.26361G>T (p.Leu8787=)
c.26355G>T (p.Leu8785=)
c.26343G>T (p.Leu8781=)
c.26340G>T (p.Leu8780=)
c.26301G>T (p.Leu8767=)
c.26286G>T (p.Leu8762=)
c.26271G>T (p.Leu8757=)
c.26259G>T (p.Leu8753=)
c.26256G>T (p.Leu8752=)
c.26253G>T (p.Leu8751=)
c.*76G>T (n.*76G>T)
c.26409G>T (p.Leu8803=)
c.26397G>T (p.Leu8799=)
c.26247G>T (p.Leu8749=)
c.24687G>T (p.Leu8229=)
c.24180G>T (p.Leu8060=)
c.19647G>T (p.Leu6549=)
c.26385G>T (p.Leu8795=)
c.26334G>T (p.Leu8778=)
c.26298G>T (p.Leu8766=)
c.26145G>T (p.Leu8715=)
6g.152122565C>GCA452969712ESR1,SYNE1c.2799G>C (p.Leu933=)
c.26265G>C (p.Leu8755=)
c.26121G>C (p.Leu8707=)
c.1608G>C
c.1983G>C
c.1850G>C
c.2115G>C (n.2115G>C)
c.25050G>C (p.Leu8350=)
n.3013G>C
c.5041G>C (n.5041G>C)
n.9957G>C
c.4144G>C (n.4144G>C)
n.9849G>C
c.851-2701C>G (n.851-2701C>G)
n.2879G>C
n.6902G>C
c.2730G>C (p.Leu910=)
c.26412G>C (p.Leu8804=)
c.26400G>C (p.Leu8800=)
c.26391G>C (p.Leu8797=)
c.26370G>C (p.Leu8790=)
c.26361G>C (p.Leu8787=)
c.26355G>C (p.Leu8785=)
c.26343G>C (p.Leu8781=)
c.26340G>C (p.Leu8780=)
c.26301G>C (p.Leu8767=)
c.26286G>C (p.Leu8762=)
c.26271G>C (p.Leu8757=)
c.26259G>C (p.Leu8753=)
c.26256G>C (p.Leu8752=)
c.26253G>C (p.Leu8751=)
c.*76G>C (n.*76G>C)
c.26409G>C (p.Leu8803=)
c.26397G>C (p.Leu8799=)
c.26247G>C (p.Leu8749=)
c.24687G>C (p.Leu8229=)
c.24180G>C (p.Leu8060=)
c.19647G>C (p.Leu6549=)
c.26385G>C (p.Leu8795=)
c.26334G>C (p.Leu8778=)
c.26298G>C (p.Leu8766=)
c.26145G>C (p.Leu8715=)
6g.152122565C>TCA452969711ESR1,SYNE1c.2799G>A (p.Leu933=)
c.26265G>A (p.Leu8755=)
c.26121G>A (p.Leu8707=)
c.1608G>A
c.1983G>A
c.1850G>A
c.2115G>A (n.2115G>A)
c.25050G>A (p.Leu8350=)
n.3013G>A
c.5041G>A (n.5041G>A)
n.9957G>A
c.4144G>A (n.4144G>A)
n.9849G>A
c.851-2701C>T (n.851-2701C>T)
n.2879G>A
n.6902G>A
c.2730G>A (p.Leu910=)
c.26412G>A (p.Leu8804=)
c.26400G>A (p.Leu8800=)
c.26391G>A (p.Leu8797=)
c.26370G>A (p.Leu8790=)
c.26361G>A (p.Leu8787=)
c.26355G>A (p.Leu8785=)
c.26343G>A (p.Leu8781=)
c.26340G>A (p.Leu8780=)
c.26301G>A (p.Leu8767=)
c.26286G>A (p.Leu8762=)
c.26271G>A (p.Leu8757=)
c.26259G>A (p.Leu8753=)
c.26256G>A (p.Leu8752=)
c.26253G>A (p.Leu8751=)
c.*76G>A (n.*76G>A)
c.26409G>A (p.Leu8803=)
c.26397G>A (p.Leu8799=)
c.26247G>A (p.Leu8749=)
c.24687G>A (p.Leu8229=)
c.24180G>A (p.Leu8060=)
c.19647G>A (p.Leu6549=)
c.26385G>A (p.Leu8795=)
c.26334G>A (p.Leu8778=)
c.26298G>A (p.Leu8766=)
c.26145G>A (p.Leu8715=)
6g.152122566A>CCA366088911ESR1,SYNE1c.2798T>G (p.Leu933Arg)
c.26264T>G (p.Leu8755Arg)
c.26120T>G (p.Leu8707Arg)
c.1607T>G
c.1982T>G
c.1849T>G
c.2114T>G (n.2114T>G)
c.25049T>G (p.Leu8350Arg)
n.3012T>G
c.5040T>G (n.5040T>G)
n.9956T>G
c.4143T>G (n.4143T>G)
n.9848T>G
c.851-2700A>C (n.851-2700A>C)
n.2878T>G
n.6901T>G
c.2729T>G (p.Leu910Arg)
c.26411T>G (p.Leu8804Arg)
c.26399T>G (p.Leu8800Arg)
c.26390T>G (p.Leu8797Arg)
c.26369T>G (p.Leu8790Arg)
c.26360T>G (p.Leu8787Arg)
c.26354T>G (p.Leu8785Arg)
c.26342T>G (p.Leu8781Arg)
c.26339T>G (p.Leu8780Arg)
c.26300T>G (p.Leu8767Arg)
c.26285T>G (p.Leu8762Arg)
c.26270T>G (p.Leu8757Arg)
c.26258T>G (p.Leu8753Arg)
c.26255T>G (p.Leu8752Arg)
c.26252T>G (p.Leu8751Arg)
c.*75T>G (n.*75T>G)
c.26408T>G (p.Leu8803Arg)
c.26396T>G (p.Leu8799Arg)
c.26246T>G (p.Leu8749Arg)
c.24686T>G (p.Leu8229Arg)
c.24179T>G (p.Leu8060Arg)
c.19646T>G (p.Leu6549Arg)
c.26384T>G (p.Leu8795Arg)
c.26333T>G (p.Leu8778Arg)
c.26297T>G (p.Leu8766Arg)
c.26144T>G (p.Leu8715Arg)
6g.152122566A>GCA366088913ESR1,SYNE1c.2798T>C (p.Leu933Pro)
c.26264T>C (p.Leu8755Pro)
c.26120T>C (p.Leu8707Pro)
c.1607T>C
c.1982T>C
c.1849T>C
c.2114T>C (n.2114T>C)
c.25049T>C (p.Leu8350Pro)
n.3012T>C
c.5040T>C (n.5040T>C)
n.9956T>C
c.4143T>C (n.4143T>C)
n.9848T>C
c.851-2700A>G (n.851-2700A>G)
n.2878T>C
n.6901T>C
c.2729T>C (p.Leu910Pro)
c.26411T>C (p.Leu8804Pro)
c.26399T>C (p.Leu8800Pro)
c.26390T>C (p.Leu8797Pro)
c.26369T>C (p.Leu8790Pro)
c.26360T>C (p.Leu8787Pro)
c.26354T>C (p.Leu8785Pro)
c.26342T>C (p.Leu8781Pro)
c.26339T>C (p.Leu8780Pro)
c.26300T>C (p.Leu8767Pro)
c.26285T>C (p.Leu8762Pro)
c.26270T>C (p.Leu8757Pro)
c.26258T>C (p.Leu8753Pro)
c.26255T>C (p.Leu8752Pro)
c.26252T>C (p.Leu8751Pro)
c.*75T>C (n.*75T>C)
c.26408T>C (p.Leu8803Pro)
c.26396T>C (p.Leu8799Pro)
c.26246T>C (p.Leu8749Pro)
c.24686T>C (p.Leu8229Pro)
c.24179T>C (p.Leu8060Pro)
c.19646T>C (p.Leu6549Pro)
c.26384T>C (p.Leu8795Pro)
c.26333T>C (p.Leu8778Pro)
c.26297T>C (p.Leu8766Pro)
c.26144T>C (p.Leu8715Pro)
6g.152122566A>TCA366088909ESR1,SYNE1c.2798T>A (p.Leu933Gln)
c.26264T>A (p.Leu8755Gln)
c.26120T>A (p.Leu8707Gln)
c.1607T>A
c.1982T>A
c.1849T>A
c.2114T>A (n.2114T>A)
c.25049T>A (p.Leu8350Gln)
n.3012T>A
c.5040T>A (n.5040T>A)
n.9956T>A
c.4143T>A (n.4143T>A)
n.9848T>A
c.851-2700A>T (n.851-2700A>T)
n.2878T>A
n.6901T>A
c.2729T>A (p.Leu910Gln)
c.26411T>A (p.Leu8804Gln)
c.26399T>A (p.Leu8800Gln)
c.26390T>A (p.Leu8797Gln)
c.26369T>A (p.Leu8790Gln)
c.26360T>A (p.Leu8787Gln)
c.26354T>A (p.Leu8785Gln)
c.26342T>A (p.Leu8781Gln)
c.26339T>A (p.Leu8780Gln)
c.26300T>A (p.Leu8767Gln)
c.26285T>A (p.Leu8762Gln)
c.26270T>A (p.Leu8757Gln)
c.26258T>A (p.Leu8753Gln)
c.26255T>A (p.Leu8752Gln)
c.26252T>A (p.Leu8751Gln)
c.*75T>A (n.*75T>A)
c.26408T>A (p.Leu8803Gln)
c.26396T>A (p.Leu8799Gln)
c.26246T>A (p.Leu8749Gln)
c.24686T>A (p.Leu8229Gln)
c.24179T>A (p.Leu8060Gln)
c.19646T>A (p.Leu6549Gln)
c.26384T>A (p.Leu8795Gln)
c.26333T>A (p.Leu8778Gln)
c.26297T>A (p.Leu8766Gln)
c.26144T>A (p.Leu8715Gln)
6g.152122568_152122570delCA2680809429ESR1,SYNE1c.2796_2798del (p.Leu933del)
c.26262_26264del (p.Leu8755del)
c.26118_26120del (p.Leu8707del)
c.1605_1607del
c.1980_1982del
c.1847_1849del
c.2112_2114del (n.2112_2114del)
c.25047_25049del (p.Leu8350del)
n.3010_3012del
c.5038_5040del (n.5038_5040del)
n.9954_9956del
c.4141_4143del (n.4141_4143del)
n.9846_9848del
c.851-2698_851-2696del (n.851-2698_851-2696del)
n.2876_2878del
n.6899_6901del
c.2727_2729del (p.Leu910del)
c.26409_26411del (p.Leu8804del)
c.26397_26399del (p.Leu8800del)
c.26388_26390del (p.Leu8797del)
c.26367_26369del (p.Leu8790del)
c.26358_26360del (p.Leu8787del)
c.26352_26354del (p.Leu8785del)
c.26340_26342del (p.Leu8781del)
c.26337_26339del (p.Leu8780del)
c.26298_26300del (p.Leu8767del)
c.26283_26285del (p.Leu8762del)
c.26268_26270del (p.Leu8757del)
c.26256_26258del (p.Leu8753del)
c.26253_26255del (p.Leu8752del)
c.26250_26252del (p.Leu8751del)
c.*73_*75del (n.*73_*75del)
c.26406_26408del (p.Leu8803del)
c.26394_26396del (p.Leu8799del)
c.26244_26246del (p.Leu8749del)
c.24684_24686del (p.Leu8229del)
c.24177_24179del (p.Leu8060del)
c.19644_19646del (p.Leu6549del)
c.26382_26384del (p.Leu8795del)
c.26331_26333del (p.Leu8778del)
c.26295_26297del (p.Leu8766del)
c.26142_26144del (p.Leu8715del)
 gnomAD v4
6g.152122567G>ACA452969716ESR1,SYNE1c.2797C>T (p.Leu933=)
c.26263C>T (p.Leu8755=)
c.26119C>T (p.Leu8707=)
c.1606C>T
c.1981C>T
c.1848C>T
c.2113C>T (n.2113C>T)
c.25048C>T (p.Leu8350=)
n.3011C>T
c.5039C>T (n.5039C>T)
n.9955C>T
c.4142C>T (n.4142C>T)
n.9847C>T
c.851-2699G>A (n.851-2699G>A)
n.2877C>T
n.6900C>T
c.2728C>T (p.Leu910=)
c.26410C>T (p.Leu8804=)
c.26398C>T (p.Leu8800=)
c.26389C>T (p.Leu8797=)
c.26368C>T (p.Leu8790=)
c.26359C>T (p.Leu8787=)
c.26353C>T (p.Leu8785=)
c.26341C>T (p.Leu8781=)
c.26338C>T (p.Leu8780=)
c.26299C>T (p.Leu8767=)
c.26284C>T (p.Leu8762=)
c.26269C>T (p.Leu8757=)
c.26257C>T (p.Leu8753=)
c.26254C>T (p.Leu8752=)
c.26251C>T (p.Leu8751=)
c.*74C>T (n.*74C>T)
c.26407C>T (p.Leu8803=)
c.26395C>T (p.Leu8799=)
c.26245C>T (p.Leu8749=)
c.24685C>T (p.Leu8229=)
c.24178C>T (p.Leu8060=)
c.19645C>T (p.Leu6549=)
c.26383C>T (p.Leu8795=)
c.26332C>T (p.Leu8778=)
c.26296C>T (p.Leu8766=)
c.26143C>T (p.Leu8715=)
6g.152122567G>CCA366088915ESR1,SYNE1c.2797C>G (p.Leu933Val)
c.26263C>G (p.Leu8755Val)
c.26119C>G (p.Leu8707Val)
c.1606C>G
c.1981C>G
c.1848C>G
c.2113C>G (n.2113C>G)
c.25048C>G (p.Leu8350Val)
n.3011C>G
c.5039C>G (n.5039C>G)
n.9955C>G
c.4142C>G (n.4142C>G)
n.9847C>G
c.851-2699G>C (n.851-2699G>C)
n.2877C>G
n.6900C>G
c.2728C>G (p.Leu910Val)
c.26410C>G (p.Leu8804Val)
c.26398C>G (p.Leu8800Val)
c.26389C>G (p.Leu8797Val)
c.26368C>G (p.Leu8790Val)
c.26359C>G (p.Leu8787Val)
c.26353C>G (p.Leu8785Val)
c.26341C>G (p.Leu8781Val)
c.26338C>G (p.Leu8780Val)
c.26299C>G (p.Leu8767Val)
c.26284C>G (p.Leu8762Val)
c.26269C>G (p.Leu8757Val)
c.26257C>G (p.Leu8753Val)
c.26254C>G (p.Leu8752Val)
c.26251C>G (p.Leu8751Val)
c.*74C>G (n.*74C>G)
c.26407C>G (p.Leu8803Val)
c.26395C>G (p.Leu8799Val)
c.26245C>G (p.Leu8749Val)
c.24685C>G (p.Leu8229Val)
c.24178C>G (p.Leu8060Val)
c.19645C>G (p.Leu6549Val)
c.26383C>G (p.Leu8795Val)
c.26332C>G (p.Leu8778Val)
c.26296C>G (p.Leu8766Val)
c.26143C>G (p.Leu8715Val)
6g.152122567G>TCA366088917ESR1,SYNE1c.2797C>A (p.Leu933Met)
c.26263C>A (p.Leu8755Met)
c.26119C>A (p.Leu8707Met)
c.1606C>A
c.1981C>A
c.1848C>A
c.2113C>A (n.2113C>A)
c.25048C>A (p.Leu8350Met)
n.3011C>A
c.5039C>A (n.5039C>A)
n.9955C>A
c.4142C>A (n.4142C>A)
n.9847C>A
c.851-2699G>T (n.851-2699G>T)
n.2877C>A
n.6900C>A
c.2728C>A (p.Leu910Met)
c.26410C>A (p.Leu8804Met)
c.26398C>A (p.Leu8800Met)
c.26389C>A (p.Leu8797Met)
c.26368C>A (p.Leu8790Met)
c.26359C>A (p.Leu8787Met)
c.26353C>A (p.Leu8785Met)
c.26341C>A (p.Leu8781Met)
c.26338C>A (p.Leu8780Met)
c.26299C>A (p.Leu8767Met)
c.26284C>A (p.Leu8762Met)
c.26269C>A (p.Leu8757Met)
c.26257C>A (p.Leu8753Met)
c.26254C>A (p.Leu8752Met)
c.26251C>A (p.Leu8751Met)
c.*74C>A (n.*74C>A)
c.26407C>A (p.Leu8803Met)
c.26395C>A (p.Leu8799Met)
c.26245C>A (p.Leu8749Met)
c.24685C>A (p.Leu8229Met)
c.24178C>A (p.Leu8060Met)
c.19645C>A (p.Leu6549Met)
c.26383C>A (p.Leu8795Met)
c.26332C>A (p.Leu8778Met)
c.26296C>A (p.Leu8766Met)
c.26143C>A (p.Leu8715Met)
6g.152122568G>ACA452969718ESR1,SYNE1c.2796C>T (p.Leu932=)
c.26262C>T (p.Leu8754=)
c.26118C>T (p.Leu8706=)
c.1605C>T
c.1980C>T
c.1847C>T
c.2112C>T (n.2112C>T)
c.25047C>T (p.Leu8349=)
n.3010C>T
c.5038C>T (n.5038C>T)
n.9954C>T
c.4141C>T (n.4141C>T)
n.9846C>T
c.851-2698G>A (n.851-2698G>A)
n.2876C>T
n.6899C>T
c.2727C>T (p.Leu909=)
c.26409C>T (p.Leu8803=)
c.26397C>T (p.Leu8799=)
c.26388C>T (p.Leu8796=)
c.26367C>T (p.Leu8789=)
c.26358C>T (p.Leu8786=)
c.26352C>T (p.Leu8784=)
c.26340C>T (p.Leu8780=)
c.26337C>T (p.Leu8779=)
c.26298C>T (p.Leu8766=)
c.26283C>T (p.Leu8761=)
c.26268C>T (p.Leu8756=)
c.26256C>T (p.Leu8752=)
c.26253C>T (p.Leu8751=)
c.26250C>T (p.Leu8750=)
c.*73C>T (n.*73C>T)
c.26406C>T (p.Leu8802=)
c.26394C>T (p.Leu8798=)
c.26244C>T (p.Leu8748=)
c.24684C>T (p.Leu8228=)
c.24177C>T (p.Leu8059=)
c.19644C>T (p.Leu6548=)
c.26382C>T (p.Leu8794=)
c.26331C>T (p.Leu8777=)
c.26295C>T (p.Leu8765=)
c.26142C>T (p.Leu8714=)
6g.152122568G>CCA452969719ESR1,SYNE1c.2796C>G (p.Leu932=)
c.26262C>G (p.Leu8754=)
c.26118C>G (p.Leu8706=)
c.1605C>G
c.1980C>G
c.1847C>G
c.2112C>G (n.2112C>G)
c.25047C>G (p.Leu8349=)
n.3010C>G
c.5038C>G (n.5038C>G)
n.9954C>G
c.4141C>G (n.4141C>G)
n.9846C>G
c.851-2698G>C (n.851-2698G>C)
n.2876C>G
n.6899C>G
c.2727C>G (p.Leu909=)
c.26409C>G (p.Leu8803=)
c.26397C>G (p.Leu8799=)
c.26388C>G (p.Leu8796=)
c.26367C>G (p.Leu8789=)
c.26358C>G (p.Leu8786=)
c.26352C>G (p.Leu8784=)
c.26340C>G (p.Leu8780=)
c.26337C>G (p.Leu8779=)
c.26298C>G (p.Leu8766=)
c.26283C>G (p.Leu8761=)
c.26268C>G (p.Leu8756=)
c.26256C>G (p.Leu8752=)
c.26253C>G (p.Leu8751=)
c.26250C>G (p.Leu8750=)
c.*73C>G (n.*73C>G)
c.26406C>G (p.Leu8802=)
c.26394C>G (p.Leu8798=)
c.26244C>G (p.Leu8748=)
c.24684C>G (p.Leu8228=)
c.24177C>G (p.Leu8059=)
c.19644C>G (p.Leu6548=)
c.26382C>G (p.Leu8794=)
c.26331C>G (p.Leu8777=)
c.26295C>G (p.Leu8765=)
c.26142C>G (p.Leu8714=)
 dbSNP gnomAD v4
6g.152122568G=CA1673189019ESR1,SYNE1c.2796C= (p.Leu932=)
c.26262C= (p.Leu8754=)
c.26118C= (p.Leu8706=)
c.1605C=
c.1980C=
c.1847C=
c.2112C= (n.2112C=)
c.25047C= (p.Leu8349=)
n.3010C=
c.5038C= (n.5038C=)
n.9954C=
c.4141C= (n.4141C=)
n.9846C=
c.851-2698G= (n.851-2698G=)
n.2876C=
n.6899C=
c.2727C= (p.Leu909=)
c.26409C= (p.Leu8803=)
c.26397C= (p.Leu8799=)
c.26388C= (p.Leu8796=)
c.26367C= (p.Leu8789=)
c.26358C= (p.Leu8786=)
c.26352C= (p.Leu8784=)
c.26340C= (p.Leu8780=)
c.26337C= (p.Leu8779=)
c.26298C= (p.Leu8766=)
c.26283C= (p.Leu8761=)
c.26268C= (p.Leu8756=)
c.26256C= (p.Leu8752=)
c.26253C= (p.Leu8751=)
c.26250C= (p.Leu8750=)
c.*73C= (n.*73C=)
c.26406C= (p.Leu8802=)
c.26394C= (p.Leu8798=)
c.26244C= (p.Leu8748=)
c.24684C= (p.Leu8228=)
c.24177C= (p.Leu8059=)
c.19644C= (p.Leu6548=)
c.26382C= (p.Leu8794=)
c.26331C= (p.Leu8777=)
c.26295C= (p.Leu8765=)
c.26142C= (p.Leu8714=)
6g.152122568G>TCA452969720ESR1,SYNE1c.2796C>A (p.Leu932=)
c.26262C>A (p.Leu8754=)
c.26118C>A (p.Leu8706=)
c.1605C>A
c.1980C>A
c.1847C>A
c.2112C>A (n.2112C>A)
c.25047C>A (p.Leu8349=)
n.3010C>A
c.5038C>A (n.5038C>A)
n.9954C>A
c.4141C>A (n.4141C>A)
n.9846C>A
c.851-2698G>T (n.851-2698G>T)
n.2876C>A
n.6899C>A
c.2727C>A (p.Leu909=)
c.26409C>A (p.Leu8803=)
c.26397C>A (p.Leu8799=)
c.26388C>A (p.Leu8796=)
c.26367C>A (p.Leu8789=)
c.26358C>A (p.Leu8786=)
c.26352C>A (p.Leu8784=)
c.26340C>A (p.Leu8780=)
c.26337C>A (p.Leu8779=)
c.26298C>A (p.Leu8766=)
c.26283C>A (p.Leu8761=)
c.26268C>A (p.Leu8756=)
c.26256C>A (p.Leu8752=)
c.26253C>A (p.Leu8751=)
c.26250C>A (p.Leu8750=)
c.*73C>A (n.*73C>A)
c.26406C>A (p.Leu8802=)
c.26394C>A (p.Leu8798=)
c.26244C>A (p.Leu8748=)
c.24684C>A (p.Leu8228=)
c.24177C>A (p.Leu8059=)
c.19644C>A (p.Leu6548=)
c.26382C>A (p.Leu8794=)
c.26331C>A (p.Leu8777=)
c.26295C>A (p.Leu8765=)
c.26142C>A (p.Leu8714=)
6g.152122569A>CCA366088918ESR1,SYNE1c.2795T>G (p.Leu932Arg)
c.26261T>G (p.Leu8754Arg)
c.26117T>G (p.Leu8706Arg)
c.1604T>G
c.1979T>G
c.1846T>G
c.2111T>G (n.2111T>G)
c.25046T>G (p.Leu8349Arg)
n.3009T>G
c.5037T>G (n.5037T>G)
n.9953T>G
c.4140T>G (n.4140T>G)
n.9845T>G
c.851-2697A>C (n.851-2697A>C)
n.2875T>G
n.6898T>G
c.2726T>G (p.Leu909Arg)
c.26408T>G (p.Leu8803Arg)
c.26396T>G (p.Leu8799Arg)
c.26387T>G (p.Leu8796Arg)
c.26366T>G (p.Leu8789Arg)
c.26357T>G (p.Leu8786Arg)
c.26351T>G (p.Leu8784Arg)
c.26339T>G (p.Leu8780Arg)
c.26336T>G (p.Leu8779Arg)
c.26297T>G (p.Leu8766Arg)
c.26282T>G (p.Leu8761Arg)
c.26267T>G (p.Leu8756Arg)
c.26255T>G (p.Leu8752Arg)
c.26252T>G (p.Leu8751Arg)
c.26249T>G (p.Leu8750Arg)
c.*72T>G (n.*72T>G)
c.26405T>G (p.Leu8802Arg)
c.26393T>G (p.Leu8798Arg)
c.26243T>G (p.Leu8748Arg)
c.24683T>G (p.Leu8228Arg)
c.24176T>G (p.Leu8059Arg)
c.19643T>G (p.Leu6548Arg)
c.26381T>G (p.Leu8794Arg)
c.26330T>G (p.Leu8777Arg)
c.26294T>G (p.Leu8765Arg)
c.26141T>G (p.Leu8714Arg)
6g.152122569A>GCA366088920ESR1,SYNE1c.2795T>C (p.Leu932Pro)
c.26261T>C (p.Leu8754Pro)
c.26117T>C (p.Leu8706Pro)
c.1604T>C
c.1979T>C
c.1846T>C
c.2111T>C (n.2111T>C)
c.25046T>C (p.Leu8349Pro)
n.3009T>C
c.5037T>C (n.5037T>C)
n.9953T>C
c.4140T>C (n.4140T>C)
n.9845T>C
c.851-2697A>G (n.851-2697A>G)
n.2875T>C
n.6898T>C
c.2726T>C (p.Leu909Pro)
c.26408T>C (p.Leu8803Pro)
c.26396T>C (p.Leu8799Pro)
c.26387T>C (p.Leu8796Pro)
c.26366T>C (p.Leu8789Pro)
c.26357T>C (p.Leu8786Pro)
c.26351T>C (p.Leu8784Pro)
c.26339T>C (p.Leu8780Pro)
c.26336T>C (p.Leu8779Pro)
c.26297T>C (p.Leu8766Pro)
c.26282T>C (p.Leu8761Pro)
c.26267T>C (p.Leu8756Pro)
c.26255T>C (p.Leu8752Pro)
c.26252T>C (p.Leu8751Pro)
c.26249T>C (p.Leu8750Pro)
c.*72T>C (n.*72T>C)
c.26405T>C (p.Leu8802Pro)
c.26393T>C (p.Leu8798Pro)
c.26243T>C (p.Leu8748Pro)
c.24683T>C (p.Leu8228Pro)
c.24176T>C (p.Leu8059Pro)
c.19643T>C (p.Leu6548Pro)
c.26381T>C (p.Leu8794Pro)
c.26330T>C (p.Leu8777Pro)
c.26294T>C (p.Leu8765Pro)
c.26141T>C (p.Leu8714Pro)
6g.152122569A>TCA366088921ESR1,SYNE1c.2795T>A (p.Leu932His)
c.26261T>A (p.Leu8754His)
c.26117T>A (p.Leu8706His)
c.1604T>A
c.1979T>A
c.1846T>A
c.2111T>A (n.2111T>A)
c.25046T>A (p.Leu8349His)
n.3009T>A
c.5037T>A (n.5037T>A)
n.9953T>A
c.4140T>A (n.4140T>A)
n.9845T>A
c.851-2697A>T (n.851-2697A>T)
n.2875T>A
n.6898T>A
c.2726T>A (p.Leu909His)
c.26408T>A (p.Leu8803His)
c.26396T>A (p.Leu8799His)
c.26387T>A (p.Leu8796His)
c.26366T>A (p.Leu8789His)
c.26357T>A (p.Leu8786His)
c.26351T>A (p.Leu8784His)
c.26339T>A (p.Leu8780His)
c.26336T>A (p.Leu8779His)
c.26297T>A (p.Leu8766His)
c.26282T>A (p.Leu8761His)
c.26267T>A (p.Leu8756His)
c.26255T>A (p.Leu8752His)
c.26252T>A (p.Leu8751His)
c.26249T>A (p.Leu8750His)
c.*72T>A (n.*72T>A)
c.26405T>A (p.Leu8802His)
c.26393T>A (p.Leu8798His)
c.26243T>A (p.Leu8748His)
c.24683T>A (p.Leu8228His)
c.24176T>A (p.Leu8059His)
c.19643T>A (p.Leu6548His)
c.26381T>A (p.Leu8794His)
c.26330T>A (p.Leu8777His)
c.26294T>A (p.Leu8765His)
c.26141T>A (p.Leu8714His)
6g.152122570G>ACA366088923ESR1,SYNE1c.2794C>T (p.Leu932Phe)
c.26260C>T (p.Leu8754Phe)
c.26116C>T (p.Leu8706Phe)
c.1603C>T
c.1978C>T
c.1845C>T
c.2110C>T (n.2110C>T)
c.25045C>T (p.Leu8349Phe)
n.3008C>T
c.5036C>T (n.5036C>T)
n.9952C>T
c.4139C>T (n.4139C>T)
n.9844C>T
c.851-2696G>A (n.851-2696G>A)
n.2874C>T
n.6897C>T
c.2725C>T (p.Leu909Phe)
c.26407C>T (p.Leu8803Phe)
c.26395C>T (p.Leu8799Phe)
c.26386C>T (p.Leu8796Phe)
c.26365C>T (p.Leu8789Phe)
c.26356C>T (p.Leu8786Phe)
c.26350C>T (p.Leu8784Phe)
c.26338C>T (p.Leu8780Phe)
c.26335C>T (p.Leu8779Phe)
c.26296C>T (p.Leu8766Phe)
c.26281C>T (p.Leu8761Phe)
c.26266C>T (p.Leu8756Phe)
c.26254C>T (p.Leu8752Phe)
c.26251C>T (p.Leu8751Phe)
c.26248C>T (p.Leu8750Phe)
c.*71C>T (n.*71C>T)
c.26404C>T (p.Leu8802Phe)
c.26392C>T (p.Leu8798Phe)
c.26242C>T (p.Leu8748Phe)
c.24682C>T (p.Leu8228Phe)
c.24175C>T (p.Leu8059Phe)
c.19642C>T (p.Leu6548Phe)
c.26380C>T (p.Leu8794Phe)
c.26329C>T (p.Leu8777Phe)
c.26293C>T (p.Leu8765Phe)
c.26140C>T (p.Leu8714Phe)
6g.152122570G>CCA366088925ESR1,SYNE1c.2794C>G (p.Leu932Val)
c.26260C>G (p.Leu8754Val)
c.26116C>G (p.Leu8706Val)
c.1603C>G
c.1978C>G
c.1845C>G
c.2110C>G (n.2110C>G)
c.25045C>G (p.Leu8349Val)
n.3008C>G
c.5036C>G (n.5036C>G)
n.9952C>G
c.4139C>G (n.4139C>G)
n.9844C>G
c.851-2696G>C (n.851-2696G>C)
n.2874C>G
n.6897C>G
c.2725C>G (p.Leu909Val)
c.26407C>G (p.Leu8803Val)
c.26395C>G (p.Leu8799Val)
c.26386C>G (p.Leu8796Val)
c.26365C>G (p.Leu8789Val)
c.26356C>G (p.Leu8786Val)
c.26350C>G (p.Leu8784Val)
c.26338C>G (p.Leu8780Val)
c.26335C>G (p.Leu8779Val)
c.26296C>G (p.Leu8766Val)
c.26281C>G (p.Leu8761Val)
c.26266C>G (p.Leu8756Val)
c.26254C>G (p.Leu8752Val)
c.26251C>G (p.Leu8751Val)
c.26248C>G (p.Leu8750Val)
c.*71C>G (n.*71C>G)
c.26404C>G (p.Leu8802Val)
c.26392C>G (p.Leu8798Val)
c.26242C>G (p.Leu8748Val)
c.24682C>G (p.Leu8228Val)
c.24175C>G (p.Leu8059Val)
c.19642C>G (p.Leu6548Val)
c.26380C>G (p.Leu8794Val)
c.26329C>G (p.Leu8777Val)
c.26293C>G (p.Leu8765Val)
c.26140C>G (p.Leu8714Val)
6g.152122570G>TCA366088927ESR1,SYNE1c.2794C>A (p.Leu932Ile)
c.26260C>A (p.Leu8754Ile)
c.26116C>A (p.Leu8706Ile)
c.1603C>A
c.1978C>A
c.1845C>A
c.2110C>A (n.2110C>A)
c.25045C>A (p.Leu8349Ile)
n.3008C>A
c.5036C>A (n.5036C>A)
n.9952C>A
c.4139C>A (n.4139C>A)
n.9844C>A
c.851-2696G>T (n.851-2696G>T)
n.2874C>A
n.6897C>A
c.2725C>A (p.Leu909Ile)
c.26407C>A (p.Leu8803Ile)
c.26395C>A (p.Leu8799Ile)
c.26386C>A (p.Leu8796Ile)
c.26365C>A (p.Leu8789Ile)
c.26356C>A (p.Leu8786Ile)
c.26350C>A (p.Leu8784Ile)
c.26338C>A (p.Leu8780Ile)
c.26335C>A (p.Leu8779Ile)
c.26296C>A (p.Leu8766Ile)
c.26281C>A (p.Leu8761Ile)
c.26266C>A (p.Leu8756Ile)
c.26254C>A (p.Leu8752Ile)
c.26251C>A (p.Leu8751Ile)
c.26248C>A (p.Leu8750Ile)
c.*71C>A (n.*71C>A)
c.26404C>A (p.Leu8802Ile)
c.26392C>A (p.Leu8798Ile)
c.26242C>A (p.Leu8748Ile)
c.24682C>A (p.Leu8228Ile)
c.24175C>A (p.Leu8059Ile)
c.19642C>A (p.Leu6548Ile)
c.26380C>A (p.Leu8794Ile)
c.26329C>A (p.Leu8777Ile)
c.26293C>A (p.Leu8765Ile)
c.26140C>A (p.Leu8714Ile)
6g.152122571A>CCA452969722ESR1,SYNE1c.2793T>G (p.Leu931=)
c.26259T>G (p.Leu8753=)
c.26115T>G (p.Leu8705=)
c.1602T>G
c.1977T>G
c.1844T>G
c.2109T>G (n.2109T>G)
c.25044T>G (p.Leu8348=)
n.3007T>G
c.5035T>G (n.5035T>G)
n.9951T>G
c.4138T>G (n.4138T>G)
n.9843T>G
c.851-2695A>C (n.851-2695A>C)
n.2873T>G
n.6896T>G
c.2724T>G (p.Leu908=)
c.26406T>G (p.Leu8802=)
c.26394T>G (p.Leu8798=)
c.26385T>G (p.Leu8795=)
c.26364T>G (p.Leu8788=)
c.26355T>G (p.Leu8785=)
c.26349T>G (p.Leu8783=)
c.26337T>G (p.Leu8779=)
c.26334T>G (p.Leu8778=)
c.26295T>G (p.Leu8765=)
c.26280T>G (p.Leu8760=)
c.26265T>G (p.Leu8755=)
c.26253T>G (p.Leu8751=)
c.26250T>G (p.Leu8750=)
c.26247T>G (p.Leu8749=)
c.*70T>G (n.*70T>G)
c.26403T>G (p.Leu8801=)
c.26391T>G (p.Leu8797=)
c.26241T>G (p.Leu8747=)
c.24681T>G (p.Leu8227=)
c.24174T>G (p.Leu8058=)
c.19641T>G (p.Leu6547=)
c.26379T>G (p.Leu8793=)
c.26328T>G (p.Leu8776=)
c.26292T>G (p.Leu8764=)
c.26139T>G (p.Leu8713=)
6g.152122571A>GCA452969724ESR1,SYNE1c.2793T>C (p.Leu931=)
c.26259T>C (p.Leu8753=)
c.26115T>C (p.Leu8705=)
c.1602T>C
c.1977T>C
c.1844T>C
c.2109T>C (n.2109T>C)
c.25044T>C (p.Leu8348=)
n.3007T>C
c.5035T>C (n.5035T>C)
n.9951T>C
c.4138T>C (n.4138T>C)
n.9843T>C
c.851-2695A>G (n.851-2695A>G)
n.2873T>C
n.6896T>C
c.2724T>C (p.Leu908=)
c.26406T>C (p.Leu8802=)
c.26394T>C (p.Leu8798=)
c.26385T>C (p.Leu8795=)
c.26364T>C (p.Leu8788=)
c.26355T>C (p.Leu8785=)
c.26349T>C (p.Leu8783=)
c.26337T>C (p.Leu8779=)
c.26334T>C (p.Leu8778=)
c.26295T>C (p.Leu8765=)
c.26280T>C (p.Leu8760=)
c.26265T>C (p.Leu8755=)
c.26253T>C (p.Leu8751=)
c.26250T>C (p.Leu8750=)
c.26247T>C (p.Leu8749=)
c.*70T>C (n.*70T>C)
c.26403T>C (p.Leu8801=)
c.26391T>C (p.Leu8797=)
c.26241T>C (p.Leu8747=)
c.24681T>C (p.Leu8227=)
c.24174T>C (p.Leu8058=)
c.19641T>C (p.Leu6547=)
c.26379T>C (p.Leu8793=)
c.26328T>C (p.Leu8776=)
c.26292T>C (p.Leu8764=)
c.26139T>C (p.Leu8713=)
6g.152122571A>TCA452969723ESR1,SYNE1c.2793T>A (p.Leu931=)
c.26259T>A (p.Leu8753=)
c.26115T>A (p.Leu8705=)
c.1602T>A
c.1977T>A
c.1844T>A
c.2109T>A (n.2109T>A)
c.25044T>A (p.Leu8348=)
n.3007T>A
c.5035T>A (n.5035T>A)
n.9951T>A
c.4138T>A (n.4138T>A)
n.9843T>A
c.851-2695A>T (n.851-2695A>T)
n.2873T>A
n.6896T>A
c.2724T>A (p.Leu908=)
c.26406T>A (p.Leu8802=)
c.26394T>A (p.Leu8798=)
c.26385T>A (p.Leu8795=)
c.26364T>A (p.Leu8788=)
c.26355T>A (p.Leu8785=)
c.26349T>A (p.Leu8783=)
c.26337T>A (p.Leu8779=)
c.26334T>A (p.Leu8778=)
c.26295T>A (p.Leu8765=)
c.26280T>A (p.Leu8760=)
c.26265T>A (p.Leu8755=)
c.26253T>A (p.Leu8751=)
c.26250T>A (p.Leu8750=)
c.26247T>A (p.Leu8749=)
c.*70T>A (n.*70T>A)
c.26403T>A (p.Leu8801=)
c.26391T>A (p.Leu8797=)
c.26241T>A (p.Leu8747=)
c.24681T>A (p.Leu8227=)
c.24174T>A (p.Leu8058=)
c.19641T>A (p.Leu6547=)
c.26379T>A (p.Leu8793=)
c.26328T>A (p.Leu8776=)
c.26292T>A (p.Leu8764=)
c.26139T>A (p.Leu8713=)
6g.152122572A>CCA366088929ESR1,SYNE1c.2792T>G (p.Leu931Arg)
c.26258T>G (p.Leu8753Arg)
c.26114T>G (p.Leu8705Arg)
c.1601T>G
c.1976T>G
c.1843T>G
c.2108T>G (n.2108T>G)
c.25043T>G (p.Leu8348Arg)
n.3006T>G
c.5034T>G (n.5034T>G)
n.9950T>G
c.4137T>G (n.4137T>G)
n.9842T>G
c.851-2694A>C (n.851-2694A>C)
n.2872T>G
n.6895T>G
c.2723T>G (p.Leu908Arg)
c.26405T>G (p.Leu8802Arg)
c.26393T>G (p.Leu8798Arg)
c.26384T>G (p.Leu8795Arg)
c.26363T>G (p.Leu8788Arg)
c.26354T>G (p.Leu8785Arg)
c.26348T>G (p.Leu8783Arg)
c.26336T>G (p.Leu8779Arg)
c.26333T>G (p.Leu8778Arg)
c.26294T>G (p.Leu8765Arg)
c.26279T>G (p.Leu8760Arg)
c.26264T>G (p.Leu8755Arg)
c.26252T>G (p.Leu8751Arg)
c.26249T>G (p.Leu8750Arg)
c.26246T>G (p.Leu8749Arg)
c.*69T>G (n.*69T>G)
c.26402T>G (p.Leu8801Arg)
c.26390T>G (p.Leu8797Arg)
c.26240T>G (p.Leu8747Arg)
c.24680T>G (p.Leu8227Arg)
c.24173T>G (p.Leu8058Arg)
c.19640T>G (p.Leu6547Arg)
c.26378T>G (p.Leu8793Arg)
c.26327T>G (p.Leu8776Arg)
c.26291T>G (p.Leu8764Arg)
c.26138T>G (p.Leu8713Arg)
6g.152122572A>GCA366088931ESR1,SYNE1c.2792T>C (p.Leu931Pro)
c.26258T>C (p.Leu8753Pro)
c.26114T>C (p.Leu8705Pro)
c.1601T>C
c.1976T>C
c.1843T>C
c.2108T>C (n.2108T>C)
c.25043T>C (p.Leu8348Pro)
n.3006T>C
c.5034T>C (n.5034T>C)
n.9950T>C
c.4137T>C (n.4137T>C)
n.9842T>C
c.851-2694A>G (n.851-2694A>G)
n.2872T>C
n.6895T>C
c.2723T>C (p.Leu908Pro)
c.26405T>C (p.Leu8802Pro)
c.26393T>C (p.Leu8798Pro)
c.26384T>C (p.Leu8795Pro)
c.26363T>C (p.Leu8788Pro)
c.26354T>C (p.Leu8785Pro)
c.26348T>C (p.Leu8783Pro)
c.26336T>C (p.Leu8779Pro)
c.26333T>C (p.Leu8778Pro)
c.26294T>C (p.Leu8765Pro)
c.26279T>C (p.Leu8760Pro)
c.26264T>C (p.Leu8755Pro)
c.26252T>C (p.Leu8751Pro)
c.26249T>C (p.Leu8750Pro)
c.26246T>C (p.Leu8749Pro)
c.*69T>C (n.*69T>C)
c.26402T>C (p.Leu8801Pro)
c.26390T>C (p.Leu8797Pro)
c.26240T>C (p.Leu8747Pro)
c.24680T>C (p.Leu8227Pro)
c.24173T>C (p.Leu8058Pro)
c.19640T>C (p.Leu6547Pro)
c.26378T>C (p.Leu8793Pro)
c.26327T>C (p.Leu8776Pro)
c.26291T>C (p.Leu8764Pro)
c.26138T>C (p.Leu8713Pro)
6g.152122572A>TCA366088933ESR1,SYNE1c.2792T>A (p.Leu931His)
c.26258T>A (p.Leu8753His)
c.26114T>A (p.Leu8705His)
c.1601T>A
c.1976T>A
c.1843T>A
c.2108T>A (n.2108T>A)
c.25043T>A (p.Leu8348His)
n.3006T>A
c.5034T>A (n.5034T>A)
n.9950T>A
c.4137T>A (n.4137T>A)
n.9842T>A
c.851-2694A>T (n.851-2694A>T)
n.2872T>A
n.6895T>A
c.2723T>A (p.Leu908His)
c.26405T>A (p.Leu8802His)
c.26393T>A (p.Leu8798His)
c.26384T>A (p.Leu8795His)
c.26363T>A (p.Leu8788His)
c.26354T>A (p.Leu8785His)
c.26348T>A (p.Leu8783His)
c.26336T>A (p.Leu8779His)
c.26333T>A (p.Leu8778His)
c.26294T>A (p.Leu8765His)
c.26279T>A (p.Leu8760His)
c.26264T>A (p.Leu8755His)
c.26252T>A (p.Leu8751His)
c.26249T>A (p.Leu8750His)
c.26246T>A (p.Leu8749His)
c.*69T>A (n.*69T>A)
c.26402T>A (p.Leu8801His)
c.26390T>A (p.Leu8797His)
c.26240T>A (p.Leu8747His)
c.24680T>A (p.Leu8227His)
c.24173T>A (p.Leu8058His)
c.19640T>A (p.Leu6547His)
c.26378T>A (p.Leu8793His)
c.26327T>A (p.Leu8776His)
c.26291T>A (p.Leu8764His)
c.26138T>A (p.Leu8713His)
6g.152122573G>ACA366088935ESR1,SYNE1c.2791C>T (p.Leu931Phe)
c.26257C>T (p.Leu8753Phe)
c.26113C>T (p.Leu8705Phe)
c.1600C>T
c.1975C>T
c.1842C>T
c.2107C>T (n.2107C>T)
c.25042C>T (p.Leu8348Phe)
n.3005C>T
c.5033C>T (n.5033C>T)
n.9949C>T
c.4136C>T (n.4136C>T)
n.9841C>T
c.851-2693G>A (n.851-2693G>A)
n.2871C>T
n.6894C>T
c.2722C>T (p.Leu908Phe)
c.26404C>T (p.Leu8802Phe)
c.26392C>T (p.Leu8798Phe)
c.26383C>T (p.Leu8795Phe)
c.26362C>T (p.Leu8788Phe)
c.26353C>T (p.Leu8785Phe)
c.26347C>T (p.Leu8783Phe)
c.26335C>T (p.Leu8779Phe)
c.26332C>T (p.Leu8778Phe)
c.26293C>T (p.Leu8765Phe)
c.26278C>T (p.Leu8760Phe)
c.26263C>T (p.Leu8755Phe)
c.26251C>T (p.Leu8751Phe)
c.26248C>T (p.Leu8750Phe)
c.26245C>T (p.Leu8749Phe)
c.*68C>T (n.*68C>T)
c.26401C>T (p.Leu8801Phe)
c.26389C>T (p.Leu8797Phe)
c.26239C>T (p.Leu8747Phe)
c.24679C>T (p.Leu8227Phe)
c.24172C>T (p.Leu8058Phe)
c.19639C>T (p.Leu6547Phe)
c.26377C>T (p.Leu8793Phe)
c.26326C>T (p.Leu8776Phe)
c.26290C>T (p.Leu8764Phe)
c.26137C>T (p.Leu8713Phe)
6g.152122573G>CCA366088937ESR1,SYNE1c.2791C>G (p.Leu931Val)
c.26257C>G (p.Leu8753Val)
c.26113C>G (p.Leu8705Val)
c.1600C>G
c.1975C>G
c.1842C>G
c.2107C>G (n.2107C>G)
c.25042C>G (p.Leu8348Val)
n.3005C>G
c.5033C>G (n.5033C>G)
n.9949C>G
c.4136C>G (n.4136C>G)
n.9841C>G
c.851-2693G>C (n.851-2693G>C)
n.2871C>G
n.6894C>G
c.2722C>G (p.Leu908Val)
c.26404C>G (p.Leu8802Val)
c.26392C>G (p.Leu8798Val)
c.26383C>G (p.Leu8795Val)
c.26362C>G (p.Leu8788Val)
c.26353C>G (p.Leu8785Val)
c.26347C>G (p.Leu8783Val)
c.26335C>G (p.Leu8779Val)
c.26332C>G (p.Leu8778Val)
c.26293C>G (p.Leu8765Val)
c.26278C>G (p.Leu8760Val)
c.26263C>G (p.Leu8755Val)
c.26251C>G (p.Leu8751Val)
c.26248C>G (p.Leu8750Val)
c.26245C>G (p.Leu8749Val)
c.*68C>G (n.*68C>G)
c.26401C>G (p.Leu8801Val)
c.26389C>G (p.Leu8797Val)
c.26239C>G (p.Leu8747Val)
c.24679C>G (p.Leu8227Val)
c.24172C>G (p.Leu8058Val)
c.19639C>G (p.Leu6547Val)
c.26377C>G (p.Leu8793Val)
c.26326C>G (p.Leu8776Val)
c.26290C>G (p.Leu8764Val)
c.26137C>G (p.Leu8713Val)
6g.152122573G>TCA366088939ESR1,SYNE1c.2791C>A (p.Leu931Ile)
c.26257C>A (p.Leu8753Ile)
c.26113C>A (p.Leu8705Ile)
c.1600C>A
c.1975C>A
c.1842C>A
c.2107C>A (n.2107C>A)
c.25042C>A (p.Leu8348Ile)
n.3005C>A
c.5033C>A (n.5033C>A)
n.9949C>A
c.4136C>A (n.4136C>A)
n.9841C>A
c.851-2693G>T (n.851-2693G>T)
n.2871C>A
n.6894C>A
c.2722C>A (p.Leu908Ile)
c.26404C>A (p.Leu8802Ile)
c.26392C>A (p.Leu8798Ile)
c.26383C>A (p.Leu8795Ile)
c.26362C>A (p.Leu8788Ile)
c.26353C>A (p.Leu8785Ile)
c.26347C>A (p.Leu8783Ile)
c.26335C>A (p.Leu8779Ile)
c.26332C>A (p.Leu8778Ile)
c.26293C>A (p.Leu8765Ile)
c.26278C>A (p.Leu8760Ile)
c.26263C>A (p.Leu8755Ile)
c.26251C>A (p.Leu8751Ile)
c.26248C>A (p.Leu8750Ile)
c.26245C>A (p.Leu8749Ile)
c.*68C>A (n.*68C>A)
c.26401C>A (p.Leu8801Ile)
c.26389C>A (p.Leu8797Ile)
c.26239C>A (p.Leu8747Ile)
c.24679C>A (p.Leu8227Ile)
c.24172C>A (p.Leu8058Ile)
c.19639C>A (p.Leu6547Ile)
c.26377C>A (p.Leu8793Ile)
c.26326C>A (p.Leu8776Ile)
c.26290C>A (p.Leu8764Ile)
c.26137C>A (p.Leu8713Ile)
6g.152122574C>ACA366088941ESR1,SYNE1c.2790G>T (p.Gln930His)
c.26256G>T (p.Gln8752His)
c.26112G>T (p.Gln8704His)
c.1599G>T
c.1974G>T
c.1841G>T
c.2106G>T (n.2106G>T)
c.25041G>T (p.Gln8347His)
n.3004G>T
c.5032G>T (n.5032G>T)
n.9948G>T
c.4135G>T (n.4135G>T)
n.9840G>T
c.851-2692C>A (n.851-2692C>A)
n.2870G>T
n.6893G>T
c.2721G>T (p.Gln907His)
c.26403G>T (p.Gln8801His)
c.26391G>T (p.Gln8797His)
c.26382G>T (p.Gln8794His)
c.26361G>T (p.Gln8787His)
c.26352G>T (p.Gln8784His)
c.26346G>T (p.Gln8782His)
c.26334G>T (p.Gln8778His)
c.26331G>T (p.Gln8777His)
c.26292G>T (p.Gln8764His)
c.26277G>T (p.Gln8759His)
c.26262G>T (p.Gln8754His)
c.26250G>T (p.Gln8750His)
c.26247G>T (p.Gln8749His)
c.26244G>T (p.Gln8748His)
c.*67G>T (n.*67G>T)
c.26400G>T (p.Gln8800His)
c.26388G>T (p.Gln8796His)
c.26238G>T (p.Gln8746His)
c.24678G>T (p.Gln8226His)
c.24171G>T (p.Gln8057His)
c.19638G>T (p.Gln6546His)
c.26376G>T (p.Gln8792His)
c.26325G>T (p.Gln8775His)
c.26289G>T (p.Gln8763His)
c.26136G>T (p.Gln8712His)
 COSMIC COSMIC COSMIC
6g.152122574C=CA1673189025ESR1,SYNE1c.2790G= (p.Gln930=)
c.26256G= (p.Gln8752=)
c.26112G= (p.Gln8704=)
c.1599G=
c.1974G=
c.1841G=
c.2106G= (n.2106G=)
c.25041G= (p.Gln8347=)
n.3004G=
c.5032G= (n.5032G=)
n.9948G=
c.4135G= (n.4135G=)
n.9840G=
c.851-2692C= (n.851-2692C=)
n.2870G=
n.6893G=
c.2721G= (p.Gln907=)
c.26403G= (p.Gln8801=)
c.26391G= (p.Gln8797=)
c.26382G= (p.Gln8794=)
c.26361G= (p.Gln8787=)
c.26352G= (p.Gln8784=)
c.26346G= (p.Gln8782=)
c.26334G= (p.Gln8778=)
c.26331G= (p.Gln8777=)
c.26292G= (p.Gln8764=)
c.26277G= (p.Gln8759=)
c.26262G= (p.Gln8754=)
c.26250G= (p.Gln8750=)
c.26247G= (p.Gln8749=)
c.26244G= (p.Gln8748=)
c.*67G= (n.*67G=)
c.26400G= (p.Gln8800=)
c.26388G= (p.Gln8796=)
c.26238G= (p.Gln8746=)
c.24678G= (p.Gln8226=)
c.24171G= (p.Gln8057=)
c.19638G= (p.Gln6546=)
c.26376G= (p.Gln8792=)
c.26325G= (p.Gln8775=)
c.26289G= (p.Gln8763=)
c.26136G= (p.Gln8712=)
6g.152122574C>GCA366088943ESR1,SYNE1c.2790G>C (p.Gln930His)
c.26256G>C (p.Gln8752His)
c.26112G>C (p.Gln8704His)
c.1599G>C
c.1974G>C
c.1841G>C
c.2106G>C (n.2106G>C)
c.25041G>C (p.Gln8347His)
n.3004G>C
c.5032G>C (n.5032G>C)
n.9948G>C
c.4135G>C (n.4135G>C)
n.9840G>C
c.851-2692C>G (n.851-2692C>G)
n.2870G>C
n.6893G>C
c.2721G>C (p.Gln907His)
c.26403G>C (p.Gln8801His)
c.26391G>C (p.Gln8797His)
c.26382G>C (p.Gln8794His)
c.26361G>C (p.Gln8787His)
c.26352G>C (p.Gln8784His)
c.26346G>C (p.Gln8782His)
c.26334G>C (p.Gln8778His)
c.26331G>C (p.Gln8777His)
c.26292G>C (p.Gln8764His)
c.26277G>C (p.Gln8759His)
c.26262G>C (p.Gln8754His)
c.26250G>C (p.Gln8750His)
c.26247G>C (p.Gln8749His)
c.26244G>C (p.Gln8748His)
c.*67G>C (n.*67G>C)
c.26400G>C (p.Gln8800His)
c.26388G>C (p.Gln8796His)
c.26238G>C (p.Gln8746His)
c.24678G>C (p.Gln8226His)
c.24171G>C (p.Gln8057His)
c.19638G>C (p.Gln6546His)
c.26376G>C (p.Gln8792His)
c.26325G>C (p.Gln8775His)
c.26289G>C (p.Gln8763His)
c.26136G>C (p.Gln8712His)
 dbSNP gnomAD v2 gnomAD v4
6g.152122574C>TCA452969552ESR1,SYNE1c.2790G>A (p.Gln930=)
c.26256G>A (p.Gln8752=)
c.26112G>A (p.Gln8704=)
c.1599G>A
c.1974G>A
c.1841G>A
c.2106G>A (n.2106G>A)
c.25041G>A (p.Gln8347=)
n.3004G>A
c.5032G>A (n.5032G>A)
n.9948G>A
c.4135G>A (n.4135G>A)
n.9840G>A
c.851-2692C>T (n.851-2692C>T)
n.2870G>A
n.6893G>A
c.2721G>A (p.Gln907=)
c.26403G>A (p.Gln8801=)
c.26391G>A (p.Gln8797=)
c.26382G>A (p.Gln8794=)
c.26361G>A (p.Gln8787=)
c.26352G>A (p.Gln8784=)
c.26346G>A (p.Gln8782=)
c.26334G>A (p.Gln8778=)
c.26331G>A (p.Gln8777=)
c.26292G>A (p.Gln8764=)
c.26277G>A (p.Gln8759=)
c.26262G>A (p.Gln8754=)
c.26250G>A (p.Gln8750=)
c.26247G>A (p.Gln8749=)
c.26244G>A (p.Gln8748=)
c.*67G>A (n.*67G>A)
c.26400G>A (p.Gln8800=)
c.26388G>A (p.Gln8796=)
c.26238G>A (p.Gln8746=)
c.24678G>A (p.Gln8226=)
c.24171G>A (p.Gln8057=)
c.19638G>A (p.Gln6546=)
c.26376G>A (p.Gln8792=)
c.26325G>A (p.Gln8775=)
c.26289G>A (p.Gln8763=)
c.26136G>A (p.Gln8712=)
6g.152122575T>ACA366088945ESR1,SYNE1c.2789A>T (p.Gln930Leu)
c.26255A>T (p.Gln8752Leu)
c.26111A>T (p.Gln8704Leu)
c.1598A>T
c.1973A>T
c.1840A>T
c.2105A>T (n.2105A>T)
c.25040A>T (p.Gln8347Leu)
n.3003A>T
c.5031A>T (n.5031A>T)
n.9947A>T
c.4134A>T (n.4134A>T)
n.9839A>T
c.851-2691T>A (n.851-2691T>A)
n.2869A>T
n.6892A>T
c.2720A>T (p.Gln907Leu)
c.26402A>T (p.Gln8801Leu)
c.26390A>T (p.Gln8797Leu)
c.26381A>T (p.Gln8794Leu)
c.26360A>T (p.Gln8787Leu)
c.26351A>T (p.Gln8784Leu)
c.26345A>T (p.Gln8782Leu)
c.26333A>T (p.Gln8778Leu)
c.26330A>T (p.Gln8777Leu)
c.26291A>T (p.Gln8764Leu)
c.26276A>T (p.Gln8759Leu)
c.26261A>T (p.Gln8754Leu)
c.26249A>T (p.Gln8750Leu)
c.26246A>T (p.Gln8749Leu)
c.26243A>T (p.Gln8748Leu)
c.*66A>T (n.*66A>T)
c.26399A>T (p.Gln8800Leu)
c.26387A>T (p.Gln8796Leu)
c.26237A>T (p.Gln8746Leu)
c.24677A>T (p.Gln8226Leu)
c.24170A>T (p.Gln8057Leu)
c.19637A>T (p.Gln6546Leu)
c.26375A>T (p.Gln8792Leu)
c.26324A>T (p.Gln8775Leu)
c.26288A>T (p.Gln8763Leu)
c.26135A>T (p.Gln8712Leu)
6g.152122575T>CCA366088947ESR1,SYNE1c.2789A>G (p.Gln930Arg)
c.26255A>G (p.Gln8752Arg)
c.26111A>G (p.Gln8704Arg)
c.1598A>G
c.1973A>G
c.1840A>G
c.2105A>G (n.2105A>G)
c.25040A>G (p.Gln8347Arg)
n.3003A>G
c.5031A>G (n.5031A>G)
n.9947A>G
c.4134A>G (n.4134A>G)
n.9839A>G
c.851-2691T>C (n.851-2691T>C)
n.2869A>G
n.6892A>G
c.2720A>G (p.Gln907Arg)
c.26402A>G (p.Gln8801Arg)
c.26390A>G (p.Gln8797Arg)
c.26381A>G (p.Gln8794Arg)
c.26360A>G (p.Gln8787Arg)
c.26351A>G (p.Gln8784Arg)
c.26345A>G (p.Gln8782Arg)
c.26333A>G (p.Gln8778Arg)
c.26330A>G (p.Gln8777Arg)
c.26291A>G (p.Gln8764Arg)
c.26276A>G (p.Gln8759Arg)
c.26261A>G (p.Gln8754Arg)
c.26249A>G (p.Gln8750Arg)
c.26246A>G (p.Gln8749Arg)
c.26243A>G (p.Gln8748Arg)
c.*66A>G (n.*66A>G)
c.26399A>G (p.Gln8800Arg)
c.26387A>G (p.Gln8796Arg)
c.26237A>G (p.Gln8746Arg)
c.24677A>G (p.Gln8226Arg)
c.24170A>G (p.Gln8057Arg)
c.19637A>G (p.Gln6546Arg)
c.26375A>G (p.Gln8792Arg)
c.26324A>G (p.Gln8775Arg)
c.26288A>G (p.Gln8763Arg)
c.26135A>G (p.Gln8712Arg)
6g.152122575T>GCA366088949ESR1,SYNE1c.2789A>C (p.Gln930Pro)
c.26255A>C (p.Gln8752Pro)
c.26111A>C (p.Gln8704Pro)
c.1598A>C
c.1973A>C
c.1840A>C
c.2105A>C (n.2105A>C)
c.25040A>C (p.Gln8347Pro)
n.3003A>C
c.5031A>C (n.5031A>C)
n.9947A>C
c.4134A>C (n.4134A>C)
n.9839A>C
c.851-2691T>G (n.851-2691T>G)
n.2869A>C
n.6892A>C
c.2720A>C (p.Gln907Pro)
c.26402A>C (p.Gln8801Pro)
c.26390A>C (p.Gln8797Pro)
c.26381A>C (p.Gln8794Pro)
c.26360A>C (p.Gln8787Pro)
c.26351A>C (p.Gln8784Pro)
c.26345A>C (p.Gln8782Pro)
c.26333A>C (p.Gln8778Pro)
c.26330A>C (p.Gln8777Pro)
c.26291A>C (p.Gln8764Pro)
c.26276A>C (p.Gln8759Pro)
c.26261A>C (p.Gln8754Pro)
c.26249A>C (p.Gln8750Pro)
c.26246A>C (p.Gln8749Pro)
c.26243A>C (p.Gln8748Pro)
c.*66A>C (n.*66A>C)
c.26399A>C (p.Gln8800Pro)
c.26387A>C (p.Gln8796Pro)
c.26237A>C (p.Gln8746Pro)
c.24677A>C (p.Gln8226Pro)
c.24170A>C (p.Gln8057Pro)
c.19637A>C (p.Gln6546Pro)
c.26375A>C (p.Gln8792Pro)
c.26324A>C (p.Gln8775Pro)
c.26288A>C (p.Gln8763Pro)
c.26135A>C (p.Gln8712Pro)
6g.152122576G>ACA366088951ESR1,SYNE1c.2788C>T (p.Gln930Ter)
c.26254C>T (p.Gln8752Ter)
c.26110C>T (p.Gln8704Ter)
c.1597C>T
c.1972C>T
c.1839C>T
c.2104C>T (n.2104C>T)
c.25039C>T (p.Gln8347Ter)
n.3002C>T
c.5030C>T (n.5030C>T)
n.9946C>T
c.4133C>T (n.4133C>T)
n.9838C>T
c.851-2690G>A (n.851-2690G>A)
n.2868C>T
n.6891C>T
c.2719C>T (p.Gln907Ter)
c.26401C>T (p.Gln8801Ter)
c.26389C>T (p.Gln8797Ter)
c.26380C>T (p.Gln8794Ter)
c.26359C>T (p.Gln8787Ter)
c.26350C>T (p.Gln8784Ter)
c.26344C>T (p.Gln8782Ter)
c.26332C>T (p.Gln8778Ter)
c.26329C>T (p.Gln8777Ter)
c.26290C>T (p.Gln8764Ter)
c.26275C>T (p.Gln8759Ter)
c.26260C>T (p.Gln8754Ter)
c.26248C>T (p.Gln8750Ter)
c.26245C>T (p.Gln8749Ter)
c.26242C>T (p.Gln8748Ter)
c.*65C>T (n.*65C>T)
c.26398C>T (p.Gln8800Ter)
c.26386C>T (p.Gln8796Ter)
c.26236C>T (p.Gln8746Ter)
c.24676C>T (p.Gln8226Ter)
c.24169C>T (p.Gln8057Ter)
c.19636C>T (p.Gln6546Ter)
c.26374C>T (p.Gln8792Ter)
c.26323C>T (p.Gln8775Ter)
c.26287C>T (p.Gln8763Ter)
c.26134C>T (p.Gln8712Ter)
6g.152122576G>CCA366088953ESR1,SYNE1c.2788C>G (p.Gln930Glu)
c.26254C>G (p.Gln8752Glu)
c.26110C>G (p.Gln8704Glu)
c.1597C>G
c.1972C>G
c.1839C>G
c.2104C>G (n.2104C>G)
c.25039C>G (p.Gln8347Glu)
n.3002C>G
c.5030C>G (n.5030C>G)
n.9946C>G
c.4133C>G (n.4133C>G)
n.9838C>G
c.851-2690G>C (n.851-2690G>C)
n.2868C>G
n.6891C>G
c.2719C>G (p.Gln907Glu)
c.26401C>G (p.Gln8801Glu)
c.26389C>G (p.Gln8797Glu)
c.26380C>G (p.Gln8794Glu)
c.26359C>G (p.Gln8787Glu)
c.26350C>G (p.Gln8784Glu)
c.26344C>G (p.Gln8782Glu)
c.26332C>G (p.Gln8778Glu)
c.26329C>G (p.Gln8777Glu)
c.26290C>G (p.Gln8764Glu)
c.26275C>G (p.Gln8759Glu)
c.26260C>G (p.Gln8754Glu)
c.26248C>G (p.Gln8750Glu)
c.26245C>G (p.Gln8749Glu)
c.26242C>G (p.Gln8748Glu)
c.*65C>G (n.*65C>G)
c.26398C>G (p.Gln8800Glu)
c.26386C>G (p.Gln8796Glu)
c.26236C>G (p.Gln8746Glu)
c.24676C>G (p.Gln8226Glu)
c.24169C>G (p.Gln8057Glu)
c.19636C>G (p.Gln6546Glu)
c.26374C>G (p.Gln8792Glu)
c.26323C>G (p.Gln8775Glu)
c.26287C>G (p.Gln8763Glu)
c.26134C>G (p.Gln8712Glu)
6g.152122576G>TCA366088955ESR1,SYNE1c.2788C>A (p.Gln930Lys)
c.26254C>A (p.Gln8752Lys)
c.26110C>A (p.Gln8704Lys)
c.1597C>A
c.1972C>A
c.1839C>A
c.2104C>A (n.2104C>A)
c.25039C>A (p.Gln8347Lys)
n.3002C>A
c.5030C>A (n.5030C>A)
n.9946C>A
c.4133C>A (n.4133C>A)
n.9838C>A
c.851-2690G>T (n.851-2690G>T)
n.2868C>A
n.6891C>A
c.2719C>A (p.Gln907Lys)
c.26401C>A (p.Gln8801Lys)
c.26389C>A (p.Gln8797Lys)
c.26380C>A (p.Gln8794Lys)
c.26359C>A (p.Gln8787Lys)
c.26350C>A (p.Gln8784Lys)
c.26344C>A (p.Gln8782Lys)
c.26332C>A (p.Gln8778Lys)
c.26329C>A (p.Gln8777Lys)
c.26290C>A (p.Gln8764Lys)
c.26275C>A (p.Gln8759Lys)
c.26260C>A (p.Gln8754Lys)
c.26248C>A (p.Gln8750Lys)
c.26245C>A (p.Gln8749Lys)
c.26242C>A (p.Gln8748Lys)
c.*65C>A (n.*65C>A)
c.26398C>A (p.Gln8800Lys)
c.26386C>A (p.Gln8796Lys)
c.26236C>A (p.Gln8746Lys)
c.24676C>A (p.Gln8226Lys)
c.24169C>A (p.Gln8057Lys)
c.19636C>A (p.Gln6546Lys)
c.26374C>A (p.Gln8792Lys)
c.26323C>A (p.Gln8775Lys)
c.26287C>A (p.Gln8763Lys)
c.26134C>A (p.Gln8712Lys)
6g.152122577A>CCA452969558ESR1,SYNE1c.2787T>G (p.Leu929=)
c.26253T>G (p.Leu8751=)
c.26109T>G (p.Leu8703=)
c.1596T>G
c.1971T>G
c.1838T>G
c.2103T>G (n.2103T>G)
c.25038T>G (p.Leu8346=)
n.3001T>G
c.5029T>G (n.5029T>G)
n.9945T>G
c.4132T>G (n.4132T>G)
n.9837T>G
c.851-2689A>C (n.851-2689A>C)
n.2867T>G
n.6890T>G
c.2718T>G (p.Leu906=)
c.26400T>G (p.Leu8800=)
c.26388T>G (p.Leu8796=)
c.26379T>G (p.Leu8793=)
c.26358T>G (p.Leu8786=)
c.26349T>G (p.Leu8783=)
c.26343T>G (p.Leu8781=)
c.26331T>G (p.Leu8777=)
c.26328T>G (p.Leu8776=)
c.26289T>G (p.Leu8763=)
c.26274T>G (p.Leu8758=)
c.26259T>G (p.Leu8753=)
c.26247T>G (p.Leu8749=)
c.26244T>G (p.Leu8748=)
c.26241T>G (p.Leu8747=)
c.*64T>G (n.*64T>G)
c.26397T>G (p.Leu8799=)
c.26385T>G (p.Leu8795=)
c.26235T>G (p.Leu8745=)
c.24675T>G (p.Leu8225=)
c.24168T>G (p.Leu8056=)
c.19635T>G (p.Leu6545=)
c.26373T>G (p.Leu8791=)
c.26322T>G (p.Leu8774=)
c.26286T>G (p.Leu8762=)
c.26133T>G (p.Leu8711=)
6g.152122577A>GCA452969559ESR1,SYNE1c.2787T>C (p.Leu929=)
c.26253T>C (p.Leu8751=)
c.26109T>C (p.Leu8703=)
c.1596T>C
c.1971T>C
c.1838T>C
c.2103T>C (n.2103T>C)
c.25038T>C (p.Leu8346=)
n.3001T>C
c.5029T>C (n.5029T>C)
n.9945T>C
c.4132T>C (n.4132T>C)
n.9837T>C
c.851-2689A>G (n.851-2689A>G)
n.2867T>C
n.6890T>C
c.2718T>C (p.Leu906=)
c.26400T>C (p.Leu8800=)
c.26388T>C (p.Leu8796=)
c.26379T>C (p.Leu8793=)
c.26358T>C (p.Leu8786=)
c.26349T>C (p.Leu8783=)
c.26343T>C (p.Leu8781=)
c.26331T>C (p.Leu8777=)
c.26328T>C (p.Leu8776=)
c.26289T>C (p.Leu8763=)
c.26274T>C (p.Leu8758=)
c.26259T>C (p.Leu8753=)
c.26247T>C (p.Leu8749=)
c.26244T>C (p.Leu8748=)
c.26241T>C (p.Leu8747=)
c.*64T>C (n.*64T>C)
c.26397T>C (p.Leu8799=)
c.26385T>C (p.Leu8795=)
c.26235T>C (p.Leu8745=)
c.24675T>C (p.Leu8225=)
c.24168T>C (p.Leu8056=)
c.19635T>C (p.Leu6545=)
c.26373T>C (p.Leu8791=)
c.26322T>C (p.Leu8774=)
c.26286T>C (p.Leu8762=)
c.26133T>C (p.Leu8711=)
6g.152122577A>TCA452969560ESR1,SYNE1c.2787T>A (p.Leu929=)
c.26253T>A (p.Leu8751=)
c.26109T>A (p.Leu8703=)
c.1596T>A
c.1971T>A
c.1838T>A
c.2103T>A (n.2103T>A)
c.25038T>A (p.Leu8346=)
n.3001T>A
c.5029T>A (n.5029T>A)
n.9945T>A
c.4132T>A (n.4132T>A)
n.9837T>A
c.851-2689A>T (n.851-2689A>T)
n.2867T>A
n.6890T>A
c.2718T>A (p.Leu906=)
c.26400T>A (p.Leu8800=)
c.26388T>A (p.Leu8796=)
c.26379T>A (p.Leu8793=)
c.26358T>A (p.Leu8786=)
c.26349T>A (p.Leu8783=)
c.26343T>A (p.Leu8781=)
c.26331T>A (p.Leu8777=)
c.26328T>A (p.Leu8776=)
c.26289T>A (p.Leu8763=)
c.26274T>A (p.Leu8758=)
c.26259T>A (p.Leu8753=)
c.26247T>A (p.Leu8749=)
c.26244T>A (p.Leu8748=)
c.26241T>A (p.Leu8747=)
c.*64T>A (n.*64T>A)
c.26397T>A (p.Leu8799=)
c.26385T>A (p.Leu8795=)
c.26235T>A (p.Leu8745=)
c.24675T>A (p.Leu8225=)
c.24168T>A (p.Leu8056=)
c.19635T>A (p.Leu6545=)
c.26373T>A (p.Leu8791=)
c.26322T>A (p.Leu8774=)
c.26286T>A (p.Leu8762=)
c.26133T>A (p.Leu8711=)
6g.152122578A>CCA366088957ESR1,SYNE1c.2786T>G (p.Leu929Arg)
c.26252T>G (p.Leu8751Arg)
c.26108T>G (p.Leu8703Arg)
c.1595T>G
c.1970T>G
c.1837T>G
c.2102T>G (n.2102T>G)
c.25037T>G (p.Leu8346Arg)
n.3000T>G
c.5028T>G (n.5028T>G)
n.9944T>G
c.4131T>G (n.4131T>G)
n.9836T>G
c.851-2688A>C (n.851-2688A>C)
n.2866T>G
n.6889T>G
c.2717T>G (p.Leu906Arg)
c.26399T>G (p.Leu8800Arg)
c.26387T>G (p.Leu8796Arg)
c.26378T>G (p.Leu8793Arg)
c.26357T>G (p.Leu8786Arg)
c.26348T>G (p.Leu8783Arg)
c.26342T>G (p.Leu8781Arg)
c.26330T>G (p.Leu8777Arg)
c.26327T>G (p.Leu8776Arg)
c.26288T>G (p.Leu8763Arg)
c.26273T>G (p.Leu8758Arg)
c.26258T>G (p.Leu8753Arg)
c.26246T>G (p.Leu8749Arg)
c.26243T>G (p.Leu8748Arg)
c.26240T>G (p.Leu8747Arg)
c.*63T>G (n.*63T>G)
c.26396T>G (p.Leu8799Arg)
c.26384T>G (p.Leu8795Arg)
c.26234T>G (p.Leu8745Arg)
c.24674T>G (p.Leu8225Arg)
c.24167T>G (p.Leu8056Arg)
c.19634T>G (p.Leu6545Arg)
c.26372T>G (p.Leu8791Arg)
c.26321T>G (p.Leu8774Arg)
c.26285T>G (p.Leu8762Arg)
c.26132T>G (p.Leu8711Arg)
6g.152122578A>GCA366088959ESR1,SYNE1c.2786T>C (p.Leu929Pro)
c.26252T>C (p.Leu8751Pro)
c.26108T>C (p.Leu8703Pro)
c.1595T>C
c.1970T>C
c.1837T>C
c.2102T>C (n.2102T>C)
c.25037T>C (p.Leu8346Pro)
n.3000T>C
c.5028T>C (n.5028T>C)
n.9944T>C
c.4131T>C (n.4131T>C)
n.9836T>C
c.851-2688A>G (n.851-2688A>G)
n.2866T>C
n.6889T>C
c.2717T>C (p.Leu906Pro)
c.26399T>C (p.Leu8800Pro)
c.26387T>C (p.Leu8796Pro)
c.26378T>C (p.Leu8793Pro)
c.26357T>C (p.Leu8786Pro)
c.26348T>C (p.Leu8783Pro)
c.26342T>C (p.Leu8781Pro)
c.26330T>C (p.Leu8777Pro)
c.26327T>C (p.Leu8776Pro)
c.26288T>C (p.Leu8763Pro)
c.26273T>C (p.Leu8758Pro)
c.26258T>C (p.Leu8753Pro)
c.26246T>C (p.Leu8749Pro)
c.26243T>C (p.Leu8748Pro)
c.26240T>C (p.Leu8747Pro)
c.*63T>C (n.*63T>C)
c.26396T>C (p.Leu8799Pro)
c.26384T>C (p.Leu8795Pro)
c.26234T>C (p.Leu8745Pro)
c.24674T>C (p.Leu8225Pro)
c.24167T>C (p.Leu8056Pro)
c.19634T>C (p.Leu6545Pro)
c.26372T>C (p.Leu8791Pro)
c.26321T>C (p.Leu8774Pro)
c.26285T>C (p.Leu8762Pro)
c.26132T>C (p.Leu8711Pro)
6g.152122578A>TCA366088961ESR1,SYNE1c.2786T>A (p.Leu929His)
c.26252T>A (p.Leu8751His)
c.26108T>A (p.Leu8703His)
c.1595T>A
c.1970T>A
c.1837T>A
c.2102T>A (n.2102T>A)
c.25037T>A (p.Leu8346His)
n.3000T>A
c.5028T>A (n.5028T>A)
n.9944T>A
c.4131T>A (n.4131T>A)
n.9836T>A
c.851-2688A>T (n.851-2688A>T)
n.2866T>A
n.6889T>A
c.2717T>A (p.Leu906His)
c.26399T>A (p.Leu8800His)
c.26387T>A (p.Leu8796His)
c.26378T>A (p.Leu8793His)
c.26357T>A (p.Leu8786His)
c.26348T>A (p.Leu8783His)
c.26342T>A (p.Leu8781His)
c.26330T>A (p.Leu8777His)
c.26327T>A (p.Leu8776His)
c.26288T>A (p.Leu8763His)
c.26273T>A (p.Leu8758His)
c.26258T>A (p.Leu8753His)
c.26246T>A (p.Leu8749His)
c.26243T>A (p.Leu8748His)
c.26240T>A (p.Leu8747His)
c.*63T>A (n.*63T>A)
c.26396T>A (p.Leu8799His)
c.26384T>A (p.Leu8795His)
c.26234T>A (p.Leu8745His)
c.24674T>A (p.Leu8225His)
c.24167T>A (p.Leu8056His)
c.19634T>A (p.Leu6545His)
c.26372T>A (p.Leu8791His)
c.26321T>A (p.Leu8774His)
c.26285T>A (p.Leu8762His)
c.26132T>A (p.Leu8711His)
6g.152122579G>ACA366088963ESR1,SYNE1c.2785C>T (p.Leu929Phe)
c.26251C>T (p.Leu8751Phe)
c.26107C>T (p.Leu8703Phe)
c.1594C>T
c.1969C>T
c.1836C>T
c.2101C>T (n.2101C>T)
c.25036C>T (p.Leu8346Phe)
n.2999C>T
c.5027C>T (n.5027C>T)
n.9943C>T
c.4130C>T (n.4130C>T)
n.9835C>T
c.851-2687G>A (n.851-2687G>A)
n.2865C>T
n.6888C>T
c.2716C>T (p.Leu906Phe)
c.26398C>T (p.Leu8800Phe)
c.26386C>T (p.Leu8796Phe)
c.26377C>T (p.Leu8793Phe)
c.26356C>T (p.Leu8786Phe)
c.26347C>T (p.Leu8783Phe)
c.26341C>T (p.Leu8781Phe)
c.26329C>T (p.Leu8777Phe)
c.26326C>T (p.Leu8776Phe)
c.26287C>T (p.Leu8763Phe)
c.26272C>T (p.Leu8758Phe)
c.26257C>T (p.Leu8753Phe)
c.26245C>T (p.Leu8749Phe)
c.26242C>T (p.Leu8748Phe)
c.26239C>T (p.Leu8747Phe)
c.*62C>T (n.*62C>T)
c.26395C>T (p.Leu8799Phe)
c.26383C>T (p.Leu8795Phe)
c.26233C>T (p.Leu8745Phe)
c.24673C>T (p.Leu8225Phe)
c.24166C>T (p.Leu8056Phe)
c.19633C>T (p.Leu6545Phe)
c.26371C>T (p.Leu8791Phe)
c.26320C>T (p.Leu8774Phe)
c.26284C>T (p.Leu8762Phe)
c.26131C>T (p.Leu8711Phe)
6g.152122579G>CCA366088965ESR1,SYNE1c.2785C>G (p.Leu929Val)
c.26251C>G (p.Leu8751Val)
c.26107C>G (p.Leu8703Val)
c.1594C>G
c.1969C>G
c.1836C>G
c.2101C>G (n.2101C>G)
c.25036C>G (p.Leu8346Val)
n.2999C>G
c.5027C>G (n.5027C>G)
n.9943C>G
c.4130C>G (n.4130C>G)
n.9835C>G
c.851-2687G>C (n.851-2687G>C)
n.2865C>G
n.6888C>G
c.2716C>G (p.Leu906Val)
c.26398C>G (p.Leu8800Val)
c.26386C>G (p.Leu8796Val)
c.26377C>G (p.Leu8793Val)
c.26356C>G (p.Leu8786Val)
c.26347C>G (p.Leu8783Val)
c.26341C>G (p.Leu8781Val)
c.26329C>G (p.Leu8777Val)
c.26326C>G (p.Leu8776Val)
c.26287C>G (p.Leu8763Val)
c.26272C>G (p.Leu8758Val)
c.26257C>G (p.Leu8753Val)
c.26245C>G (p.Leu8749Val)
c.26242C>G (p.Leu8748Val)
c.26239C>G (p.Leu8747Val)
c.*62C>G (n.*62C>G)
c.26395C>G (p.Leu8799Val)
c.26383C>G (p.Leu8795Val)
c.26233C>G (p.Leu8745Val)
c.24673C>G (p.Leu8225Val)
c.24166C>G (p.Leu8056Val)
c.19633C>G (p.Leu6545Val)
c.26371C>G (p.Leu8791Val)
c.26320C>G (p.Leu8774Val)
c.26284C>G (p.Leu8762Val)
c.26131C>G (p.Leu8711Val)
6g.152122579G>TCA366088967ESR1,SYNE1c.2785C>A (p.Leu929Ile)
c.26251C>A (p.Leu8751Ile)
c.26107C>A (p.Leu8703Ile)
c.1594C>A
c.1969C>A
c.1836C>A
c.2101C>A (n.2101C>A)
c.25036C>A (p.Leu8346Ile)
n.2999C>A
c.5027C>A (n.5027C>A)
n.9943C>A
c.4130C>A (n.4130C>A)
n.9835C>A
c.851-2687G>T (n.851-2687G>T)
n.2865C>A
n.6888C>A
c.2716C>A (p.Leu906Ile)
c.26398C>A (p.Leu8800Ile)
c.26386C>A (p.Leu8796Ile)
c.26377C>A (p.Leu8793Ile)
c.26356C>A (p.Leu8786Ile)
c.26347C>A (p.Leu8783Ile)
c.26341C>A (p.Leu8781Ile)
c.26329C>A (p.Leu8777Ile)
c.26326C>A (p.Leu8776Ile)
c.26287C>A (p.Leu8763Ile)
c.26272C>A (p.Leu8758Ile)
c.26257C>A (p.Leu8753Ile)
c.26245C>A (p.Leu8749Ile)
c.26242C>A (p.Leu8748Ile)
c.26239C>A (p.Leu8747Ile)
c.*62C>A (n.*62C>A)
c.26395C>A (p.Leu8799Ile)
c.26383C>A (p.Leu8795Ile)
c.26233C>A (p.Leu8745Ile)
c.24673C>A (p.Leu8225Ile)
c.24166C>A (p.Leu8056Ile)
c.19633C>A (p.Leu6545Ile)
c.26371C>A (p.Leu8791Ile)
c.26320C>A (p.Leu8774Ile)
c.26284C>A (p.Leu8762Ile)
c.26131C>A (p.Leu8711Ile)
6g.152122580G>ACA452969569ESR1,SYNE1c.2784C>T (p.Pro928=)
c.26250C>T (p.Pro8750=)
c.26106C>T (p.Pro8702=)
c.1593C>T
c.1968C>T
c.1835C>T
c.2100C>T (n.2100C>T)
c.25035C>T (p.Pro8345=)
n.2998C>T
c.5026C>T (n.5026C>T)
n.9942C>T
c.4129C>T (n.4129C>T)
n.9834C>T
c.851-2686G>A (n.851-2686G>A)
n.2864C>T
n.6887C>T
c.2715C>T (p.Pro905=)
c.26397C>T (p.Pro8799=)
c.26385C>T (p.Pro8795=)
c.26376C>T (p.Pro8792=)
c.26355C>T (p.Pro8785=)
c.26346C>T (p.Pro8782=)
c.26340C>T (p.Pro8780=)
c.26328C>T (p.Pro8776=)
c.26325C>T (p.Pro8775=)
c.26286C>T (p.Pro8762=)
c.26271C>T (p.Pro8757=)
c.26256C>T (p.Pro8752=)
c.26244C>T (p.Pro8748=)
c.26241C>T (p.Pro8747=)
c.26238C>T (p.Pro8746=)
c.*61C>T (n.*61C>T)
c.26394C>T (p.Pro8798=)
c.26382C>T (p.Pro8794=)
c.26232C>T (p.Pro8744=)
c.24672C>T (p.Pro8224=)
c.24165C>T (p.Pro8055=)
c.19632C>T (p.Pro6544=)
c.26370C>T (p.Pro8790=)
c.26319C>T (p.Pro8773=)
c.26283C>T (p.Pro8761=)
c.26130C>T (p.Pro8710=)
 gnomAD v4
6g.152122580G>CCA452969567ESR1,SYNE1c.2784C>G (p.Pro928=)
c.26250C>G (p.Pro8750=)
c.26106C>G (p.Pro8702=)
c.1593C>G
c.1968C>G
c.1835C>G
c.2100C>G (n.2100C>G)
c.25035C>G (p.Pro8345=)
n.2998C>G
c.5026C>G (n.5026C>G)
n.9942C>G
c.4129C>G (n.4129C>G)
n.9834C>G
c.851-2686G>C (n.851-2686G>C)
n.2864C>G
n.6887C>G
c.2715C>G (p.Pro905=)
c.26397C>G (p.Pro8799=)
c.26385C>G (p.Pro8795=)
c.26376C>G (p.Pro8792=)
c.26355C>G (p.Pro8785=)
c.26346C>G (p.Pro8782=)
c.26340C>G (p.Pro8780=)
c.26328C>G (p.Pro8776=)
c.26325C>G (p.Pro8775=)
c.26286C>G (p.Pro8762=)
c.26271C>G (p.Pro8757=)
c.26256C>G (p.Pro8752=)
c.26244C>G (p.Pro8748=)
c.26241C>G (p.Pro8747=)
c.26238C>G (p.Pro8746=)
c.*61C>G (n.*61C>G)
c.26394C>G (p.Pro8798=)
c.26382C>G (p.Pro8794=)
c.26232C>G (p.Pro8744=)
c.24672C>G (p.Pro8224=)
c.24165C>G (p.Pro8055=)
c.19632C>G (p.Pro6544=)
c.26370C>G (p.Pro8790=)
c.26319C>G (p.Pro8773=)
c.26283C>G (p.Pro8761=)
c.26130C>G (p.Pro8710=)
6g.152122580G>TCA452969568ESR1,SYNE1c.2784C>A (p.Pro928=)
c.26250C>A (p.Pro8750=)
c.26106C>A (p.Pro8702=)
c.1593C>A
c.1968C>A
c.1835C>A
c.2100C>A (n.2100C>A)
c.25035C>A (p.Pro8345=)
n.2998C>A
c.5026C>A (n.5026C>A)
n.9942C>A
c.4129C>A (n.4129C>A)
n.9834C>A
c.851-2686G>T (n.851-2686G>T)
n.2864C>A
n.6887C>A
c.2715C>A (p.Pro905=)
c.26397C>A (p.Pro8799=)
c.26385C>A (p.Pro8795=)
c.26376C>A (p.Pro8792=)
c.26355C>A (p.Pro8785=)
c.26346C>A (p.Pro8782=)
c.26340C>A (p.Pro8780=)
c.26328C>A (p.Pro8776=)
c.26325C>A (p.Pro8775=)
c.26286C>A (p.Pro8762=)
c.26271C>A (p.Pro8757=)
c.26256C>A (p.Pro8752=)
c.26244C>A (p.Pro8748=)
c.26241C>A (p.Pro8747=)
c.26238C>A (p.Pro8746=)
c.*61C>A (n.*61C>A)
c.26394C>A (p.Pro8798=)
c.26382C>A (p.Pro8794=)
c.26232C>A (p.Pro8744=)
c.24672C>A (p.Pro8224=)
c.24165C>A (p.Pro8055=)
c.19632C>A (p.Pro6544=)
c.26370C>A (p.Pro8790=)
c.26319C>A (p.Pro8773=)
c.26283C>A (p.Pro8761=)
c.26130C>A (p.Pro8710=)
6g.152122581G>ACA366088973ESR1,SYNE1c.2783C>T (p.Pro928Leu)
c.26249C>T (p.Pro8750Leu)
c.26105C>T (p.Pro8702Leu)
c.1592C>T
c.1967C>T
c.1834C>T
c.2099C>T (n.2099C>T)
c.25034C>T (p.Pro8345Leu)
n.2997C>T
c.5025C>T (n.5025C>T)
n.9941C>T
c.4128C>T (n.4128C>T)
n.9833C>T
c.851-2685G>A (n.851-2685G>A)
n.2863C>T
n.6886C>T
c.2714C>T (p.Pro905Leu)
c.26396C>T (p.Pro8799Leu)
c.26384C>T (p.Pro8795Leu)
c.26375C>T (p.Pro8792Leu)
c.26354C>T (p.Pro8785Leu)
c.26345C>T (p.Pro8782Leu)
c.26339C>T (p.Pro8780Leu)
c.26327C>T (p.Pro8776Leu)
c.26324C>T (p.Pro8775Leu)
c.26285C>T (p.Pro8762Leu)
c.26270C>T (p.Pro8757Leu)
c.26255C>T (p.Pro8752Leu)
c.26243C>T (p.Pro8748Leu)
c.26240C>T (p.Pro8747Leu)
c.26237C>T (p.Pro8746Leu)
c.*60C>T (n.*60C>T)
c.26393C>T (p.Pro8798Leu)
c.26381C>T (p.Pro8794Leu)
c.26231C>T (p.Pro8744Leu)
c.24671C>T (p.Pro8224Leu)
c.24164C>T (p.Pro8055Leu)
c.19631C>T (p.Pro6544Leu)
c.26369C>T (p.Pro8790Leu)
c.26318C>T (p.Pro8773Leu)
c.26282C>T (p.Pro8761Leu)
c.26129C>T (p.Pro8710Leu)
6g.152122581G>CCA366088971ESR1,SYNE1c.2783C>G (p.Pro928Arg)
c.26249C>G (p.Pro8750Arg)
c.26105C>G (p.Pro8702Arg)
c.1592C>G
c.1967C>G
c.1834C>G
c.2099C>G (n.2099C>G)
c.25034C>G (p.Pro8345Arg)
n.2997C>G
c.5025C>G (n.5025C>G)
n.9941C>G
c.4128C>G (n.4128C>G)
n.9833C>G
c.851-2685G>C (n.851-2685G>C)
n.2863C>G
n.6886C>G
c.2714C>G (p.Pro905Arg)
c.26396C>G (p.Pro8799Arg)
c.26384C>G (p.Pro8795Arg)
c.26375C>G (p.Pro8792Arg)
c.26354C>G (p.Pro8785Arg)
c.26345C>G (p.Pro8782Arg)
c.26339C>G (p.Pro8780Arg)
c.26327C>G (p.Pro8776Arg)
c.26324C>G (p.Pro8775Arg)
c.26285C>G (p.Pro8762Arg)
c.26270C>G (p.Pro8757Arg)
c.26255C>G (p.Pro8752Arg)
c.26243C>G (p.Pro8748Arg)
c.26240C>G (p.Pro8747Arg)
c.26237C>G (p.Pro8746Arg)
c.*60C>G (n.*60C>G)
c.26393C>G (p.Pro8798Arg)
c.26381C>G (p.Pro8794Arg)
c.26231C>G (p.Pro8744Arg)
c.24671C>G (p.Pro8224Arg)
c.24164C>G (p.Pro8055Arg)
c.19631C>G (p.Pro6544Arg)
c.26369C>G (p.Pro8790Arg)
c.26318C>G (p.Pro8773Arg)
c.26282C>G (p.Pro8761Arg)
c.26129C>G (p.Pro8710Arg)
6g.152122581G>TCA366088970ESR1,SYNE1c.2783C>A (p.Pro928His)
c.26249C>A (p.Pro8750His)
c.26105C>A (p.Pro8702His)
c.1592C>A
c.1967C>A
c.1834C>A
c.2099C>A (n.2099C>A)
c.25034C>A (p.Pro8345His)
n.2997C>A
c.5025C>A (n.5025C>A)
n.9941C>A
c.4128C>A (n.4128C>A)
n.9833C>A
c.851-2685G>T (n.851-2685G>T)
n.2863C>A
n.6886C>A
c.2714C>A (p.Pro905His)
c.26396C>A (p.Pro8799His)
c.26384C>A (p.Pro8795His)
c.26375C>A (p.Pro8792His)
c.26354C>A (p.Pro8785His)
c.26345C>A (p.Pro8782His)
c.26339C>A (p.Pro8780His)
c.26327C>A (p.Pro8776His)
c.26324C>A (p.Pro8775His)
c.26285C>A (p.Pro8762His)
c.26270C>A (p.Pro8757His)
c.26255C>A (p.Pro8752His)
c.26243C>A (p.Pro8748His)
c.26240C>A (p.Pro8747His)
c.26237C>A (p.Pro8746His)
c.*60C>A (n.*60C>A)
c.26393C>A (p.Pro8798His)
c.26381C>A (p.Pro8794His)
c.26231C>A (p.Pro8744His)
c.24671C>A (p.Pro8224His)
c.24164C>A (p.Pro8055His)
c.19631C>A (p.Pro6544His)
c.26369C>A (p.Pro8790His)
c.26318C>A (p.Pro8773His)
c.26282C>A (p.Pro8761His)
c.26129C>A (p.Pro8710His)
6g.152122582G>ACA366088975ESR1,SYNE1c.2782C>T (p.Pro928Ser)
c.26248C>T (p.Pro8750Ser)
c.26104C>T (p.Pro8702Ser)
c.1591C>T
c.1966C>T
c.1833C>T
c.2098C>T (n.2098C>T)
c.25033C>T (p.Pro8345Ser)
n.2996C>T
c.5024C>T (n.5024C>T)
n.9940C>T
c.4127C>T (n.4127C>T)
n.9832C>T
c.851-2684G>A (n.851-2684G>A)
n.2862C>T
n.6885C>T
c.2713C>T (p.Pro905Ser)
c.26395C>T (p.Pro8799Ser)
c.26383C>T (p.Pro8795Ser)
c.26374C>T (p.Pro8792Ser)
c.26353C>T (p.Pro8785Ser)
c.26344C>T (p.Pro8782Ser)
c.26338C>T (p.Pro8780Ser)
c.26326C>T (p.Pro8776Ser)
c.26323C>T (p.Pro8775Ser)
c.26284C>T (p.Pro8762Ser)
c.26269C>T (p.Pro8757Ser)
c.26254C>T (p.Pro8752Ser)
c.26242C>T (p.Pro8748Ser)
c.26239C>T (p.Pro8747Ser)
c.26236C>T (p.Pro8746Ser)
c.*59C>T (n.*59C>T)
c.26392C>T (p.Pro8798Ser)
c.26380C>T (p.Pro8794Ser)
c.26230C>T (p.Pro8744Ser)
c.24670C>T (p.Pro8224Ser)
c.24163C>T (p.Pro8055Ser)
c.19630C>T (p.Pro6544Ser)
c.26368C>T (p.Pro8790Ser)
c.26317C>T (p.Pro8773Ser)
c.26281C>T (p.Pro8761Ser)
c.26128C>T (p.Pro8710Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.152122582G>CCA366088978ESR1,SYNE1c.2782C>G (p.Pro928Ala)
c.26248C>G (p.Pro8750Ala)
c.26104C>G (p.Pro8702Ala)
c.1591C>G
c.1966C>G
c.1833C>G
c.2098C>G (n.2098C>G)
c.25033C>G (p.Pro8345Ala)
n.2996C>G
c.5024C>G (n.5024C>G)
n.9940C>G
c.4127C>G (n.4127C>G)
n.9832C>G
c.851-2684G>C (n.851-2684G>C)
n.2862C>G
n.6885C>G
c.2713C>G (p.Pro905Ala)
c.26395C>G (p.Pro8799Ala)
c.26383C>G (p.Pro8795Ala)
c.26374C>G (p.Pro8792Ala)
c.26353C>G (p.Pro8785Ala)
c.26344C>G (p.Pro8782Ala)
c.26338C>G (p.Pro8780Ala)
c.26326C>G (p.Pro8776Ala)
c.26323C>G (p.Pro8775Ala)
c.26284C>G (p.Pro8762Ala)
c.26269C>G (p.Pro8757Ala)
c.26254C>G (p.Pro8752Ala)
c.26242C>G (p.Pro8748Ala)
c.26239C>G (p.Pro8747Ala)
c.26236C>G (p.Pro8746Ala)
c.*59C>G (n.*59C>G)
c.26392C>G (p.Pro8798Ala)
c.26380C>G (p.Pro8794Ala)
c.26230C>G (p.Pro8744Ala)
c.24670C>G (p.Pro8224Ala)
c.24163C>G (p.Pro8055Ala)
c.19630C>G (p.Pro6544Ala)
c.26368C>G (p.Pro8790Ala)
c.26317C>G (p.Pro8773Ala)
c.26281C>G (p.Pro8761Ala)
c.26128C>G (p.Pro8710Ala)
6g.152122582G=CA1673189037ESR1,SYNE1c.2782C= (p.Pro928=)
c.26248C= (p.Pro8750=)
c.26104C= (p.Pro8702=)
c.1591C=
c.1966C=
c.1833C=
c.2098C= (n.2098C=)
c.25033C= (p.Pro8345=)
n.2996C=
c.5024C= (n.5024C=)
n.9940C=
c.4127C= (n.4127C=)
n.9832C=
c.851-2684G= (n.851-2684G=)
n.2862C=
n.6885C=
c.2713C= (p.Pro905=)
c.26395C= (p.Pro8799=)
c.26383C= (p.Pro8795=)
c.26374C= (p.Pro8792=)
c.26353C= (p.Pro8785=)
c.26344C= (p.Pro8782=)
c.26338C= (p.Pro8780=)
c.26326C= (p.Pro8776=)
c.26323C= (p.Pro8775=)
c.26284C= (p.Pro8762=)
c.26269C= (p.Pro8757=)
c.26254C= (p.Pro8752=)
c.26242C= (p.Pro8748=)
c.26239C= (p.Pro8747=)
c.26236C= (p.Pro8746=)
c.*59C= (n.*59C=)
c.26392C= (p.Pro8798=)
c.26380C= (p.Pro8794=)
c.26230C= (p.Pro8744=)
c.24670C= (p.Pro8224=)
c.24163C= (p.Pro8055=)
c.19630C= (p.Pro6544=)
c.26368C= (p.Pro8790=)
c.26317C= (p.Pro8773=)
c.26281C= (p.Pro8761=)
c.26128C= (p.Pro8710=)
6g.152122582G>TCA366088977ESR1,SYNE1c.2782C>A (p.Pro928Thr)
c.26248C>A (p.Pro8750Thr)
c.26104C>A (p.Pro8702Thr)
c.1591C>A
c.1966C>A
c.1833C>A
c.2098C>A (n.2098C>A)
c.25033C>A (p.Pro8345Thr)
n.2996C>A
c.5024C>A (n.5024C>A)
n.9940C>A
c.4127C>A (n.4127C>A)
n.9832C>A
c.851-2684G>T (n.851-2684G>T)
n.2862C>A
n.6885C>A
c.2713C>A (p.Pro905Thr)
c.26395C>A (p.Pro8799Thr)
c.26383C>A (p.Pro8795Thr)
c.26374C>A (p.Pro8792Thr)
c.26353C>A (p.Pro8785Thr)
c.26344C>A (p.Pro8782Thr)
c.26338C>A (p.Pro8780Thr)
c.26326C>A (p.Pro8776Thr)
c.26323C>A (p.Pro8775Thr)
c.26284C>A (p.Pro8762Thr)
c.26269C>A (p.Pro8757Thr)
c.26254C>A (p.Pro8752Thr)
c.26242C>A (p.Pro8748Thr)
c.26239C>A (p.Pro8747Thr)
c.26236C>A (p.Pro8746Thr)
c.*59C>A (n.*59C>A)
c.26392C>A (p.Pro8798Thr)
c.26380C>A (p.Pro8794Thr)
c.26230C>A (p.Pro8744Thr)
c.24670C>A (p.Pro8224Thr)
c.24163C>A (p.Pro8055Thr)
c.19630C>A (p.Pro6544Thr)
c.26368C>A (p.Pro8790Thr)
c.26317C>A (p.Pro8773Thr)
c.26281C>A (p.Pro8761Thr)
c.26128C>A (p.Pro8710Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.152122583A>CCA452969577ESR1,SYNE1c.2781T>G (p.Leu927=)
c.26247T>G (p.Leu8749=)
c.26103T>G (p.Leu8701=)
c.1590T>G
c.1965T>G
c.1832T>G
c.2097T>G (n.2097T>G)
c.25032T>G (p.Leu8344=)
n.2995T>G
c.5023T>G (n.5023T>G)
n.9939T>G
c.4126T>G (n.4126T>G)
n.9831T>G
c.851-2683A>C (n.851-2683A>C)
n.2861T>G
n.6884T>G
c.2712T>G (p.Leu904=)
c.26394T>G (p.Leu8798=)
c.26382T>G (p.Leu8794=)
c.26373T>G (p.Leu8791=)
c.26352T>G (p.Leu8784=)
c.26343T>G (p.Leu8781=)
c.26337T>G (p.Leu8779=)
c.26325T>G (p.Leu8775=)
c.26322T>G (p.Leu8774=)
c.26283T>G (p.Leu8761=)
c.26268T>G (p.Leu8756=)
c.26253T>G (p.Leu8751=)
c.26241T>G (p.Leu8747=)
c.26238T>G (p.Leu8746=)
c.26235T>G (p.Leu8745=)
c.*58T>G (n.*58T>G)
c.26391T>G (p.Leu8797=)
c.26379T>G (p.Leu8793=)
c.26229T>G (p.Leu8743=)
c.24669T>G (p.Leu8223=)
c.24162T>G (p.Leu8054=)
c.19629T>G (p.Leu6543=)
c.26367T>G (p.Leu8789=)
c.26316T>G (p.Leu8772=)
c.26280T>G (p.Leu8760=)
c.26127T>G (p.Leu8709=)
6g.152122583A>GCA452969578ESR1,SYNE1c.2781T>C (p.Leu927=)
c.26247T>C (p.Leu8749=)
c.26103T>C (p.Leu8701=)
c.1590T>C
c.1965T>C
c.1832T>C
c.2097T>C (n.2097T>C)
c.25032T>C (p.Leu8344=)
n.2995T>C
c.5023T>C (n.5023T>C)
n.9939T>C
c.4126T>C (n.4126T>C)
n.9831T>C
c.851-2683A>G (n.851-2683A>G)
n.2861T>C
n.6884T>C
c.2712T>C (p.Leu904=)
c.26394T>C (p.Leu8798=)
c.26382T>C (p.Leu8794=)
c.26373T>C (p.Leu8791=)
c.26352T>C (p.Leu8784=)
c.26343T>C (p.Leu8781=)
c.26337T>C (p.Leu8779=)
c.26325T>C (p.Leu8775=)
c.26322T>C (p.Leu8774=)
c.26283T>C (p.Leu8761=)
c.26268T>C (p.Leu8756=)
c.26253T>C (p.Leu8751=)
c.26241T>C (p.Leu8747=)
c.26238T>C (p.Leu8746=)
c.26235T>C (p.Leu8745=)
c.*58T>C (n.*58T>C)
c.26391T>C (p.Leu8797=)
c.26379T>C (p.Leu8793=)
c.26229T>C (p.Leu8743=)
c.24669T>C (p.Leu8223=)
c.24162T>C (p.Leu8054=)
c.19629T>C (p.Leu6543=)
c.26367T>C (p.Leu8789=)
c.26316T>C (p.Leu8772=)
c.26280T>C (p.Leu8760=)
c.26127T>C (p.Leu8709=)
6g.152122583A>TCA452969581ESR1,SYNE1c.2781T>A (p.Leu927=)
c.26247T>A (p.Leu8749=)
c.26103T>A (p.Leu8701=)
c.1590T>A
c.1965T>A
c.1832T>A
c.2097T>A (n.2097T>A)
c.25032T>A (p.Leu8344=)
n.2995T>A
c.5023T>A (n.5023T>A)
n.9939T>A
c.4126T>A (n.4126T>A)
n.9831T>A
c.851-2683A>T (n.851-2683A>T)
n.2861T>A
n.6884T>A
c.2712T>A (p.Leu904=)
c.26394T>A (p.Leu8798=)
c.26382T>A (p.Leu8794=)
c.26373T>A (p.Leu8791=)
c.26352T>A (p.Leu8784=)
c.26343T>A (p.Leu8781=)
c.26337T>A (p.Leu8779=)
c.26325T>A (p.Leu8775=)
c.26322T>A (p.Leu8774=)
c.26283T>A (p.Leu8761=)
c.26268T>A (p.Leu8756=)
c.26253T>A (p.Leu8751=)
c.26241T>A (p.Leu8747=)
c.26238T>A (p.Leu8746=)
c.26235T>A (p.Leu8745=)
c.*58T>A (n.*58T>A)
c.26391T>A (p.Leu8797=)
c.26379T>A (p.Leu8793=)
c.26229T>A (p.Leu8743=)
c.24669T>A (p.Leu8223=)
c.24162T>A (p.Leu8054=)
c.19629T>A (p.Leu6543=)
c.26367T>A (p.Leu8789=)
c.26316T>A (p.Leu8772=)
c.26280T>A (p.Leu8760=)
c.26127T>A (p.Leu8709=)
6g.152122584A>CCA366088982ESR1,SYNE1c.2780T>G (p.Leu927Arg)
c.26246T>G (p.Leu8749Arg)
c.26102T>G (p.Leu8701Arg)
c.1589T>G
c.1964T>G
c.1831T>G
c.2096T>G (n.2096T>G)
c.25031T>G (p.Leu8344Arg)
n.2994T>G
c.5022T>G (n.5022T>G)
n.9938T>G
c.4125T>G (n.4125T>G)
n.9830T>G
c.851-2682A>C (n.851-2682A>C)
n.2860T>G
n.6883T>G
c.2711T>G (p.Leu904Arg)
c.26393T>G (p.Leu8798Arg)
c.26381T>G (p.Leu8794Arg)
c.26372T>G (p.Leu8791Arg)
c.26351T>G (p.Leu8784Arg)
c.26342T>G (p.Leu8781Arg)
c.26336T>G (p.Leu8779Arg)
c.26324T>G (p.Leu8775Arg)
c.26321T>G (p.Leu8774Arg)
c.26282T>G (p.Leu8761Arg)
c.26267T>G (p.Leu8756Arg)
c.26252T>G (p.Leu8751Arg)
c.26240T>G (p.Leu8747Arg)
c.26237T>G (p.Leu8746Arg)
c.26234T>G (p.Leu8745Arg)
c.*57T>G (n.*57T>G)
c.26390T>G (p.Leu8797Arg)
c.26378T>G (p.Leu8793Arg)
c.26228T>G (p.Leu8743Arg)
c.24668T>G (p.Leu8223Arg)
c.24161T>G (p.Leu8054Arg)
c.19628T>G (p.Leu6543Arg)
c.26366T>G (p.Leu8789Arg)
c.26315T>G (p.Leu8772Arg)
c.26279T>G (p.Leu8760Arg)
c.26126T>G (p.Leu8709Arg)
 gnomAD v4
6g.152122584A>GCA366088984ESR1,SYNE1c.2780T>C (p.Leu927Pro)
c.26246T>C (p.Leu8749Pro)
c.26102T>C (p.Leu8701Pro)
c.1589T>C
c.1964T>C
c.1831T>C
c.2096T>C (n.2096T>C)
c.25031T>C (p.Leu8344Pro)
n.2994T>C
c.5022T>C (n.5022T>C)
n.9938T>C
c.4125T>C (n.4125T>C)
n.9830T>C
c.851-2682A>G (n.851-2682A>G)
n.2860T>C
n.6883T>C
c.2711T>C (p.Leu904Pro)
c.26393T>C (p.Leu8798Pro)
c.26381T>C (p.Leu8794Pro)
c.26372T>C (p.Leu8791Pro)
c.26351T>C (p.Leu8784Pro)
c.26342T>C (p.Leu8781Pro)
c.26336T>C (p.Leu8779Pro)
c.26324T>C (p.Leu8775Pro)
c.26321T>C (p.Leu8774Pro)
c.26282T>C (p.Leu8761Pro)
c.26267T>C (p.Leu8756Pro)
c.26252T>C (p.Leu8751Pro)
c.26240T>C (p.Leu8747Pro)
c.26237T>C (p.Leu8746Pro)
c.26234T>C (p.Leu8745Pro)
c.*57T>C (n.*57T>C)
c.26390T>C (p.Leu8797Pro)
c.26378T>C (p.Leu8793Pro)
c.26228T>C (p.Leu8743Pro)
c.24668T>C (p.Leu8223Pro)
c.24161T>C (p.Leu8054Pro)
c.19628T>C (p.Leu6543Pro)
c.26366T>C (p.Leu8789Pro)
c.26315T>C (p.Leu8772Pro)
c.26279T>C (p.Leu8760Pro)
c.26126T>C (p.Leu8709Pro)
 gnomAD v4
6g.152122584A>TCA366088986ESR1,SYNE1c.2780T>A (p.Leu927His)
c.26246T>A (p.Leu8749His)
c.26102T>A (p.Leu8701His)
c.1589T>A
c.1964T>A
c.1831T>A
c.2096T>A (n.2096T>A)
c.25031T>A (p.Leu8344His)
n.2994T>A
c.5022T>A (n.5022T>A)
n.9938T>A
c.4125T>A (n.4125T>A)
n.9830T>A
c.851-2682A>T (n.851-2682A>T)
n.2860T>A
n.6883T>A
c.2711T>A (p.Leu904His)
c.26393T>A (p.Leu8798His)
c.26381T>A (p.Leu8794His)
c.26372T>A (p.Leu8791His)
c.26351T>A (p.Leu8784His)
c.26342T>A (p.Leu8781His)
c.26336T>A (p.Leu8779His)
c.26324T>A (p.Leu8775His)
c.26321T>A (p.Leu8774His)
c.26282T>A (p.Leu8761His)
c.26267T>A (p.Leu8756His)
c.26252T>A (p.Leu8751His)
c.26240T>A (p.Leu8747His)
c.26237T>A (p.Leu8746His)
c.26234T>A (p.Leu8745His)
c.*57T>A (n.*57T>A)
c.26390T>A (p.Leu8797His)
c.26378T>A (p.Leu8793His)
c.26228T>A (p.Leu8743His)
c.24668T>A (p.Leu8223His)
c.24161T>A (p.Leu8054His)
c.19628T>A (p.Leu6543His)
c.26366T>A (p.Leu8789His)
c.26315T>A (p.Leu8772His)
c.26279T>A (p.Leu8760His)
c.26126T>A (p.Leu8709His)
6g.152122585G>ACA366088988ESR1,SYNE1c.2779C>T (p.Leu927Phe)
c.26245C>T (p.Leu8749Phe)
c.26101C>T (p.Leu8701Phe)
c.1588C>T
c.1963C>T
c.1830C>T
c.2095C>T (n.2095C>T)
c.25030C>T (p.Leu8344Phe)
n.2993C>T
c.5021C>T (n.5021C>T)
n.9937C>T
c.4124C>T (n.4124C>T)
n.9829C>T
c.851-2681G>A (n.851-2681G>A)
n.2859C>T
n.6882C>T
c.2710C>T (p.Leu904Phe)
c.26392C>T (p.Leu8798Phe)
c.26380C>T (p.Leu8794Phe)
c.26371C>T (p.Leu8791Phe)
c.26350C>T (p.Leu8784Phe)
c.26341C>T (p.Leu8781Phe)
c.26335C>T (p.Leu8779Phe)
c.26323C>T (p.Leu8775Phe)
c.26320C>T (p.Leu8774Phe)
c.26281C>T (p.Leu8761Phe)
c.26266C>T (p.Leu8756Phe)
c.26251C>T (p.Leu8751Phe)
c.26239C>T (p.Leu8747Phe)
c.26236C>T (p.Leu8746Phe)
c.26233C>T (p.Leu8745Phe)
c.*56C>T (n.*56C>T)
c.26389C>T (p.Leu8797Phe)
c.26377C>T (p.Leu8793Phe)
c.26227C>T (p.Leu8743Phe)
c.24667C>T (p.Leu8223Phe)
c.24160C>T (p.Leu8054Phe)
c.19627C>T (p.Leu6543Phe)
c.26365C>T (p.Leu8789Phe)
c.26314C>T (p.Leu8772Phe)
c.26278C>T (p.Leu8760Phe)
c.26125C>T (p.Leu8709Phe)
 gnomAD v4
6g.152122585G>CCA366088990ESR1,SYNE1c.2779C>G (p.Leu927Val)
c.26245C>G (p.Leu8749Val)
c.26101C>G (p.Leu8701Val)
c.1588C>G
c.1963C>G
c.1830C>G
c.2095C>G (n.2095C>G)
c.25030C>G (p.Leu8344Val)
n.2993C>G
c.5021C>G (n.5021C>G)
n.9937C>G
c.4124C>G (n.4124C>G)
n.9829C>G
c.851-2681G>C (n.851-2681G>C)
n.2859C>G
n.6882C>G
c.2710C>G (p.Leu904Val)
c.26392C>G (p.Leu8798Val)
c.26380C>G (p.Leu8794Val)
c.26371C>G (p.Leu8791Val)
c.26350C>G (p.Leu8784Val)
c.26341C>G (p.Leu8781Val)
c.26335C>G (p.Leu8779Val)
c.26323C>G (p.Leu8775Val)
c.26320C>G (p.Leu8774Val)
c.26281C>G (p.Leu8761Val)
c.26266C>G (p.Leu8756Val)
c.26251C>G (p.Leu8751Val)
c.26239C>G (p.Leu8747Val)
c.26236C>G (p.Leu8746Val)
c.26233C>G (p.Leu8745Val)
c.*56C>G (n.*56C>G)
c.26389C>G (p.Leu8797Val)
c.26377C>G (p.Leu8793Val)
c.26227C>G (p.Leu8743Val)
c.24667C>G (p.Leu8223Val)
c.24160C>G (p.Leu8054Val)
c.19627C>G (p.Leu6543Val)
c.26365C>G (p.Leu8789Val)
c.26314C>G (p.Leu8772Val)
c.26278C>G (p.Leu8760Val)
c.26125C>G (p.Leu8709Val)
6g.152122585G>TCA366088992ESR1,SYNE1c.2779C>A (p.Leu927Ile)
c.26245C>A (p.Leu8749Ile)
c.26101C>A (p.Leu8701Ile)
c.1588C>A
c.1963C>A
c.1830C>A
c.2095C>A (n.2095C>A)
c.25030C>A (p.Leu8344Ile)
n.2993C>A
c.5021C>A (n.5021C>A)
n.9937C>A
c.4124C>A (n.4124C>A)
n.9829C>A
c.851-2681G>T (n.851-2681G>T)
n.2859C>A
n.6882C>A
c.2710C>A (p.Leu904Ile)
c.26392C>A (p.Leu8798Ile)
c.26380C>A (p.Leu8794Ile)
c.26371C>A (p.Leu8791Ile)
c.26350C>A (p.Leu8784Ile)
c.26341C>A (p.Leu8781Ile)
c.26335C>A (p.Leu8779Ile)
c.26323C>A (p.Leu8775Ile)
c.26320C>A (p.Leu8774Ile)
c.26281C>A (p.Leu8761Ile)
c.26266C>A (p.Leu8756Ile)
c.26251C>A (p.Leu8751Ile)
c.26239C>A (p.Leu8747Ile)
c.26236C>A (p.Leu8746Ile)
c.26233C>A (p.Leu8745Ile)
c.*56C>A (n.*56C>A)
c.26389C>A (p.Leu8797Ile)
c.26377C>A (p.Leu8793Ile)
c.26227C>A (p.Leu8743Ile)
c.24667C>A (p.Leu8223Ile)
c.24160C>A (p.Leu8054Ile)
c.19627C>A (p.Leu6543Ile)
c.26365C>A (p.Leu8789Ile)
c.26314C>A (p.Leu8772Ile)
c.26278C>A (p.Leu8760Ile)
c.26125C>A (p.Leu8709Ile)
 gnomAD v4
6g.152122586A>CCA452969592ESR1,SYNE1c.2778T>G (p.Ala926=)
c.26244T>G (p.Ala8748=)
c.26100T>G (p.Ala8700=)
c.1587T>G
c.1962T>G
c.1829T>G
c.2094T>G (n.2094T>G)
c.25029T>G (p.Ala8343=)
n.2992T>G
c.5020T>G (n.5020T>G)
n.9936T>G
c.4123T>G (n.4123T>G)
n.9828T>G
c.851-2680A>C (n.851-2680A>C)
n.2858T>G
n.6881T>G
c.2709T>G (p.Ala903=)
c.26391T>G (p.Ala8797=)
c.26379T>G (p.Ala8793=)
c.26370T>G (p.Ala8790=)
c.26349T>G (p.Ala8783=)
c.26340T>G (p.Ala8780=)
c.26334T>G (p.Ala8778=)
c.26322T>G (p.Ala8774=)
c.26319T>G (p.Ala8773=)
c.26280T>G (p.Ala8760=)
c.26265T>G (p.Ala8755=)
c.26250T>G (p.Ala8750=)
c.26238T>G (p.Ala8746=)
c.26235T>G (p.Ala8745=)
c.26232T>G (p.Ala8744=)
c.*55T>G (n.*55T>G)
c.26388T>G (p.Ala8796=)
c.26376T>G (p.Ala8792=)
c.26226T>G (p.Ala8742=)
c.24666T>G (p.Ala8222=)
c.24159T>G (p.Ala8053=)
c.19626T>G (p.Ala6542=)
c.26364T>G (p.Ala8788=)
c.26313T>G (p.Ala8771=)
c.26277T>G (p.Ala8759=)
c.26124T>G (p.Ala8708=)
 gnomAD v4
6g.152122586A>GCA452969589ESR1,SYNE1c.2778T>C (p.Ala926=)
c.26244T>C (p.Ala8748=)
c.26100T>C (p.Ala8700=)
c.1587T>C
c.1962T>C
c.1829T>C
c.2094T>C (n.2094T>C)
c.25029T>C (p.Ala8343=)
n.2992T>C
c.5020T>C (n.5020T>C)
n.9936T>C
c.4123T>C (n.4123T>C)
n.9828T>C
c.851-2680A>G (n.851-2680A>G)
n.2858T>C
n.6881T>C
c.2709T>C (p.Ala903=)
c.26391T>C (p.Ala8797=)
c.26379T>C (p.Ala8793=)
c.26370T>C (p.Ala8790=)
c.26349T>C (p.Ala8783=)
c.26340T>C (p.Ala8780=)
c.26334T>C (p.Ala8778=)
c.26322T>C (p.Ala8774=)
c.26319T>C (p.Ala8773=)
c.26280T>C (p.Ala8760=)
c.26265T>C (p.Ala8755=)
c.26250T>C (p.Ala8750=)
c.26238T>C (p.Ala8746=)
c.26235T>C (p.Ala8745=)
c.26232T>C (p.Ala8744=)
c.*55T>C (n.*55T>C)
c.26388T>C (p.Ala8796=)
c.26376T>C (p.Ala8792=)
c.26226T>C (p.Ala8742=)
c.24666T>C (p.Ala8222=)
c.24159T>C (p.Ala8053=)
c.19626T>C (p.Ala6542=)
c.26364T>C (p.Ala8788=)
c.26313T>C (p.Ala8771=)
c.26277T>C (p.Ala8759=)
c.26124T>C (p.Ala8708=)
6g.152122586A>TCA452969590ESR1,SYNE1c.2778T>A (p.Ala926=)
c.26244T>A (p.Ala8748=)
c.26100T>A (p.Ala8700=)
c.1587T>A
c.1962T>A
c.1829T>A
c.2094T>A (n.2094T>A)
c.25029T>A (p.Ala8343=)
n.2992T>A
c.5020T>A (n.5020T>A)
n.9936T>A
c.4123T>A (n.4123T>A)
n.9828T>A
c.851-2680A>T (n.851-2680A>T)
n.2858T>A
n.6881T>A
c.2709T>A (p.Ala903=)
c.26391T>A (p.Ala8797=)
c.26379T>A (p.Ala8793=)
c.26370T>A (p.Ala8790=)
c.26349T>A (p.Ala8783=)
c.26340T>A (p.Ala8780=)
c.26334T>A (p.Ala8778=)
c.26322T>A (p.Ala8774=)
c.26319T>A (p.Ala8773=)
c.26280T>A (p.Ala8760=)
c.26265T>A (p.Ala8755=)
c.26250T>A (p.Ala8750=)
c.26238T>A (p.Ala8746=)
c.26235T>A (p.Ala8745=)
c.26232T>A (p.Ala8744=)
c.*55T>A (n.*55T>A)
c.26388T>A (p.Ala8796=)
c.26376T>A (p.Ala8792=)
c.26226T>A (p.Ala8742=)
c.24666T>A (p.Ala8222=)
c.24159T>A (p.Ala8053=)
c.19626T>A (p.Ala6542=)
c.26364T>A (p.Ala8788=)
c.26313T>A (p.Ala8771=)
c.26277T>A (p.Ala8759=)
c.26124T>A (p.Ala8708=)
6g.152122587G>ACA366088994ESR1,SYNE1c.2777C>T (p.Ala926Val)
c.26243C>T (p.Ala8748Val)
c.26099C>T (p.Ala8700Val)
c.1586C>T
c.1961C>T
c.1828C>T
c.2093C>T (n.2093C>T)
c.25028C>T (p.Ala8343Val)
n.2991C>T
c.5019C>T (n.5019C>T)
n.9935C>T
c.4122C>T (n.4122C>T)
n.9827C>T
c.851-2679G>A (n.851-2679G>A)
n.2857C>T
n.6880C>T
c.2708C>T (p.Ala903Val)
c.26390C>T (p.Ala8797Val)
c.26378C>T (p.Ala8793Val)
c.26369C>T (p.Ala8790Val)
c.26348C>T (p.Ala8783Val)
c.26339C>T (p.Ala8780Val)
c.26333C>T (p.Ala8778Val)
c.26321C>T (p.Ala8774Val)
c.26318C>T (p.Ala8773Val)
c.26279C>T (p.Ala8760Val)
c.26264C>T (p.Ala8755Val)
c.26249C>T (p.Ala8750Val)
c.26237C>T (p.Ala8746Val)
c.26234C>T (p.Ala8745Val)
c.26231C>T (p.Ala8744Val)
c.*54C>T (n.*54C>T)
c.26387C>T (p.Ala8796Val)
c.26375C>T (p.Ala8792Val)
c.26225C>T (p.Ala8742Val)
c.24665C>T (p.Ala8222Val)
c.24158C>T (p.Ala8053Val)
c.19625C>T (p.Ala6542Val)
c.26363C>T (p.Ala8788Val)
c.26312C>T (p.Ala8771Val)
c.26276C>T (p.Ala8759Val)
c.26123C>T (p.Ala8708Val)
 gnomAD v4
6g.152122587G>CCA366088996ESR1,SYNE1c.2777C>G (p.Ala926Gly)
c.26243C>G (p.Ala8748Gly)
c.26099C>G (p.Ala8700Gly)
c.1586C>G
c.1961C>G
c.1828C>G
c.2093C>G (n.2093C>G)
c.25028C>G (p.Ala8343Gly)
n.2991C>G
c.5019C>G (n.5019C>G)
n.9935C>G
c.4122C>G (n.4122C>G)
n.9827C>G
c.851-2679G>C (n.851-2679G>C)
n.2857C>G
n.6880C>G
c.2708C>G (p.Ala903Gly)
c.26390C>G (p.Ala8797Gly)
c.26378C>G (p.Ala8793Gly)
c.26369C>G (p.Ala8790Gly)
c.26348C>G (p.Ala8783Gly)
c.26339C>G (p.Ala8780Gly)
c.26333C>G (p.Ala8778Gly)
c.26321C>G (p.Ala8774Gly)
c.26318C>G (p.Ala8773Gly)
c.26279C>G (p.Ala8760Gly)
c.26264C>G (p.Ala8755Gly)
c.26249C>G (p.Ala8750Gly)
c.26237C>G (p.Ala8746Gly)
c.26234C>G (p.Ala8745Gly)
c.26231C>G (p.Ala8744Gly)
c.*54C>G (n.*54C>G)
c.26387C>G (p.Ala8796Gly)
c.26375C>G (p.Ala8792Gly)
c.26225C>G (p.Ala8742Gly)
c.24665C>G (p.Ala8222Gly)
c.24158C>G (p.Ala8053Gly)
c.19625C>G (p.Ala6542Gly)
c.26363C>G (p.Ala8788Gly)
c.26312C>G (p.Ala8771Gly)
c.26276C>G (p.Ala8759Gly)
c.26123C>G (p.Ala8708Gly)
6g.152122587G>TCA366088998ESR1,SYNE1c.2777C>A (p.Ala926Asp)
c.26243C>A (p.Ala8748Asp)
c.26099C>A (p.Ala8700Asp)
c.1586C>A
c.1961C>A
c.1828C>A
c.2093C>A (n.2093C>A)
c.25028C>A (p.Ala8343Asp)
n.2991C>A
c.5019C>A (n.5019C>A)
n.9935C>A
c.4122C>A (n.4122C>A)
n.9827C>A
c.851-2679G>T (n.851-2679G>T)
n.2857C>A
n.6880C>A
c.2708C>A (p.Ala903Asp)
c.26390C>A (p.Ala8797Asp)
c.26378C>A (p.Ala8793Asp)
c.26369C>A (p.Ala8790Asp)
c.26348C>A (p.Ala8783Asp)
c.26339C>A (p.Ala8780Asp)
c.26333C>A (p.Ala8778Asp)
c.26321C>A (p.Ala8774Asp)
c.26318C>A (p.Ala8773Asp)
c.26279C>A (p.Ala8760Asp)
c.26264C>A (p.Ala8755Asp)
c.26249C>A (p.Ala8750Asp)
c.26237C>A (p.Ala8746Asp)
c.26234C>A (p.Ala8745Asp)
c.26231C>A (p.Ala8744Asp)
c.*54C>A (n.*54C>A)
c.26387C>A (p.Ala8796Asp)
c.26375C>A (p.Ala8792Asp)
c.26225C>A (p.Ala8742Asp)
c.24665C>A (p.Ala8222Asp)
c.24158C>A (p.Ala8053Asp)
c.19625C>A (p.Ala6542Asp)
c.26363C>A (p.Ala8788Asp)
c.26312C>A (p.Ala8771Asp)
c.26276C>A (p.Ala8759Asp)
c.26123C>A (p.Ala8708Asp)
6g.152122588C>ACA366089000ESR1,SYNE1c.2776G>T (p.Ala926Ser)
c.26242G>T (p.Ala8748Ser)
c.26098G>T (p.Ala8700Ser)
c.1585G>T
c.1960G>T
c.1827G>T
c.2092G>T (n.2092G>T)
c.25027G>T (p.Ala8343Ser)
n.2990G>T
c.5018G>T (n.5018G>T)
n.9934G>T
c.4121G>T (n.4121G>T)
n.9826G>T
c.851-2678C>A (n.851-2678C>A)
n.2856G>T
n.6879G>T
c.2707G>T (p.Ala903Ser)
c.26389G>T (p.Ala8797Ser)
c.26377G>T (p.Ala8793Ser)
c.26368G>T (p.Ala8790Ser)
c.26347G>T (p.Ala8783Ser)
c.26338G>T (p.Ala8780Ser)
c.26332G>T (p.Ala8778Ser)
c.26320G>T (p.Ala8774Ser)
c.26317G>T (p.Ala8773Ser)
c.26278G>T (p.Ala8760Ser)
c.26263G>T (p.Ala8755Ser)
c.26248G>T (p.Ala8750Ser)
c.26236G>T (p.Ala8746Ser)
c.26233G>T (p.Ala8745Ser)
c.26230G>T (p.Ala8744Ser)
c.*53G>T (n.*53G>T)
c.26386G>T (p.Ala8796Ser)
c.26374G>T (p.Ala8792Ser)
c.26224G>T (p.Ala8742Ser)
c.24664G>T (p.Ala8222Ser)
c.24157G>T (p.Ala8053Ser)
c.19624G>T (p.Ala6542Ser)
c.26362G>T (p.Ala8788Ser)
c.26311G>T (p.Ala8771Ser)
c.26275G>T (p.Ala8759Ser)
c.26122G>T (p.Ala8708Ser)
6g.152122588C=CA1673189043ESR1,SYNE1c.2776G= (p.Ala926=)
c.26242G= (p.Ala8748=)
c.26098G= (p.Ala8700=)
c.1585G=
c.1960G=
c.1827G=
c.2092G= (n.2092G=)
c.25027G= (p.Ala8343=)
n.2990G=
c.5018G= (n.5018G=)
n.9934G=
c.4121G= (n.4121G=)
n.9826G=
c.851-2678C= (n.851-2678C=)
n.2856G=
n.6879G=
c.2707G= (p.Ala903=)
c.26389G= (p.Ala8797=)
c.26377G= (p.Ala8793=)
c.26368G= (p.Ala8790=)
c.26347G= (p.Ala8783=)
c.26338G= (p.Ala8780=)
c.26332G= (p.Ala8778=)
c.26320G= (p.Ala8774=)
c.26317G= (p.Ala8773=)
c.26278G= (p.Ala8760=)
c.26263G= (p.Ala8755=)
c.26248G= (p.Ala8750=)
c.26236G= (p.Ala8746=)
c.26233G= (p.Ala8745=)
c.26230G= (p.Ala8744=)
c.*53G= (n.*53G=)
c.26386G= (p.Ala8796=)
c.26374G= (p.Ala8792=)
c.26224G= (p.Ala8742=)
c.24664G= (p.Ala8222=)
c.24157G= (p.Ala8053=)
c.19624G= (p.Ala6542=)
c.26362G= (p.Ala8788=)
c.26311G= (p.Ala8771=)
c.26275G= (p.Ala8759=)
c.26122G= (p.Ala8708=)
6g.152122588C>GCA366089002ESR1,SYNE1c.2776G>C (p.Ala926Pro)
c.26242G>C (p.Ala8748Pro)
c.26098G>C (p.Ala8700Pro)
c.1585G>C
c.1960G>C
c.1827G>C
c.2092G>C (n.2092G>C)
c.25027G>C (p.Ala8343Pro)
n.2990G>C
c.5018G>C (n.5018G>C)
n.9934G>C
c.4121G>C (n.4121G>C)
n.9826G>C
c.851-2678C>G (n.851-2678C>G)
n.2856G>C
n.6879G>C
c.2707G>C (p.Ala903Pro)
c.26389G>C (p.Ala8797Pro)
c.26377G>C (p.Ala8793Pro)
c.26368G>C (p.Ala8790Pro)
c.26347G>C (p.Ala8783Pro)
c.26338G>C (p.Ala8780Pro)
c.26332G>C (p.Ala8778Pro)
c.26320G>C (p.Ala8774Pro)
c.26317G>C (p.Ala8773Pro)
c.26278G>C (p.Ala8760Pro)
c.26263G>C (p.Ala8755Pro)
c.26248G>C (p.Ala8750Pro)
c.26236G>C (p.Ala8746Pro)
c.26233G>C (p.Ala8745Pro)
c.26230G>C (p.Ala8744Pro)
c.*53G>C (n.*53G>C)
c.26386G>C (p.Ala8796Pro)
c.26374G>C (p.Ala8792Pro)
c.26224G>C (p.Ala8742Pro)
c.24664G>C (p.Ala8222Pro)
c.24157G>C (p.Ala8053Pro)
c.19624G>C (p.Ala6542Pro)
c.26362G>C (p.Ala8788Pro)
c.26311G>C (p.Ala8771Pro)
c.26275G>C (p.Ala8759Pro)
c.26122G>C (p.Ala8708Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152122588C>TCA366089004ESR1,SYNE1c.2776G>A (p.Ala926Thr)
c.26242G>A (p.Ala8748Thr)
c.26098G>A (p.Ala8700Thr)
c.1585G>A
c.1960G>A
c.1827G>A
c.2092G>A (n.2092G>A)
c.25027G>A (p.Ala8343Thr)
n.2990G>A
c.5018G>A (n.5018G>A)
n.9934G>A
c.4121G>A (n.4121G>A)
n.9826G>A
c.851-2678C>T (n.851-2678C>T)
n.2856G>A
n.6879G>A
c.2707G>A (p.Ala903Thr)
c.26389G>A (p.Ala8797Thr)
c.26377G>A (p.Ala8793Thr)
c.26368G>A (p.Ala8790Thr)
c.26347G>A (p.Ala8783Thr)
c.26338G>A (p.Ala8780Thr)
c.26332G>A (p.Ala8778Thr)
c.26320G>A (p.Ala8774Thr)
c.26317G>A (p.Ala8773Thr)
c.26278G>A (p.Ala8760Thr)
c.26263G>A (p.Ala8755Thr)
c.26248G>A (p.Ala8750Thr)
c.26236G>A (p.Ala8746Thr)
c.26233G>A (p.Ala8745Thr)
c.26230G>A (p.Ala8744Thr)
c.*53G>A (n.*53G>A)
c.26386G>A (p.Ala8796Thr)
c.26374G>A (p.Ala8792Thr)
c.26224G>A (p.Ala8742Thr)
c.24664G>A (p.Ala8222Thr)
c.24157G>A (p.Ala8053Thr)
c.19624G>A (p.Ala6542Thr)
c.26362G>A (p.Ala8788Thr)
c.26311G>A (p.Ala8771Thr)
c.26275G>A (p.Ala8759Thr)
c.26122G>A (p.Ala8708Thr)
 dbSNP gnomAD v4
6g.152122589T>ACA452969603ESR1,SYNE1c.2775A>T (p.Ala925=)
c.26241A>T (p.Ala8747=)
c.26097A>T (p.Ala8699=)
c.1584A>T
c.1959A>T
c.1826A>T
c.2091A>T (n.2091A>T)
c.25026A>T (p.Ala8342=)
n.2989A>T
c.5017A>T (n.5017A>T)
n.9933A>T
c.4120A>T (n.4120A>T)
n.9825A>T
c.851-2677T>A (n.851-2677T>A)
n.2855A>T
n.6878A>T
c.2706A>T (p.Ala902=)
c.26388A>T (p.Ala8796=)
c.26376A>T (p.Ala8792=)
c.26367A>T (p.Ala8789=)
c.26346A>T (p.Ala8782=)
c.26337A>T (p.Ala8779=)
c.26331A>T (p.Ala8777=)
c.26319A>T (p.Ala8773=)
c.26316A>T (p.Ala8772=)
c.26277A>T (p.Ala8759=)
c.26262A>T (p.Ala8754=)
c.26247A>T (p.Ala8749=)
c.26235A>T (p.Ala8745=)
c.26232A>T (p.Ala8744=)
c.26229A>T (p.Ala8743=)
c.*52A>T (n.*52A>T)
c.26385A>T (p.Ala8795=)
c.26373A>T (p.Ala8791=)
c.26223A>T (p.Ala8741=)
c.24663A>T (p.Ala8221=)
c.24156A>T (p.Ala8052=)
c.19623A>T (p.Ala6541=)
c.26361A>T (p.Ala8787=)
c.26310A>T (p.Ala8770=)
c.26274A>T (p.Ala8758=)
c.26121A>T (p.Ala8707=)
6g.152122589T>CCA452969604ESR1,SYNE1c.2775A>G (p.Ala925=)
c.26241A>G (p.Ala8747=)
c.26097A>G (p.Ala8699=)
c.1584A>G
c.1959A>G
c.1826A>G
c.2091A>G (n.2091A>G)
c.25026A>G (p.Ala8342=)
n.2989A>G
c.5017A>G (n.5017A>G)
n.9933A>G
c.4120A>G (n.4120A>G)
n.9825A>G
c.851-2677T>C (n.851-2677T>C)
n.2855A>G
n.6878A>G
c.2706A>G (p.Ala902=)
c.26388A>G (p.Ala8796=)
c.26376A>G (p.Ala8792=)
c.26367A>G (p.Ala8789=)
c.26346A>G (p.Ala8782=)
c.26337A>G (p.Ala8779=)
c.26331A>G (p.Ala8777=)
c.26319A>G (p.Ala8773=)
c.26316A>G (p.Ala8772=)
c.26277A>G (p.Ala8759=)
c.26262A>G (p.Ala8754=)
c.26247A>G (p.Ala8749=)
c.26235A>G (p.Ala8745=)
c.26232A>G (p.Ala8744=)
c.26229A>G (p.Ala8743=)
c.*52A>G (n.*52A>G)
c.26385A>G (p.Ala8795=)
c.26373A>G (p.Ala8791=)
c.26223A>G (p.Ala8741=)
c.24663A>G (p.Ala8221=)
c.24156A>G (p.Ala8052=)
c.19623A>G (p.Ala6541=)
c.26361A>G (p.Ala8787=)
c.26310A>G (p.Ala8770=)
c.26274A>G (p.Ala8758=)
c.26121A>G (p.Ala8707=)
 ClinVar dbSNP
6g.152122589T>GCA452969605ESR1,SYNE1c.2775A>C (p.Ala925=)
c.26241A>C (p.Ala8747=)
c.26097A>C (p.Ala8699=)
c.1584A>C
c.1959A>C
c.1826A>C
c.2091A>C (n.2091A>C)
c.25026A>C (p.Ala8342=)
n.2989A>C
c.5017A>C (n.5017A>C)
n.9933A>C
c.4120A>C (n.4120A>C)
n.9825A>C
c.851-2677T>G (n.851-2677T>G)
n.2855A>C
n.6878A>C
c.2706A>C (p.Ala902=)
c.26388A>C (p.Ala8796=)
c.26376A>C (p.Ala8792=)
c.26367A>C (p.Ala8789=)
c.26346A>C (p.Ala8782=)
c.26337A>C (p.Ala8779=)
c.26331A>C (p.Ala8777=)
c.26319A>C (p.Ala8773=)
c.26316A>C (p.Ala8772=)
c.26277A>C (p.Ala8759=)
c.26262A>C (p.Ala8754=)
c.26247A>C (p.Ala8749=)
c.26235A>C (p.Ala8745=)
c.26232A>C (p.Ala8744=)
c.26229A>C (p.Ala8743=)
c.*52A>C (n.*52A>C)
c.26385A>C (p.Ala8795=)
c.26373A>C (p.Ala8791=)
c.26223A>C (p.Ala8741=)
c.24663A>C (p.Ala8221=)
c.24156A>C (p.Ala8052=)
c.19623A>C (p.Ala6541=)
c.26361A>C (p.Ala8787=)
c.26310A>C (p.Ala8770=)
c.26274A>C (p.Ala8758=)
c.26121A>C (p.Ala8707=)
6g.152122590G>ACA366089010ESR1,SYNE1c.2774C>T (p.Ala925Val)
c.26240C>T (p.Ala8747Val)
c.26096C>T (p.Ala8699Val)
c.1583C>T
c.1958C>T
c.1825C>T
c.2090C>T (n.2090C>T)
c.25025C>T (p.Ala8342Val)
n.2988C>T
c.5016C>T (n.5016C>T)
n.9932C>T
c.4119C>T (n.4119C>T)
n.9824C>T
c.851-2676G>A (n.851-2676G>A)
n.2854C>T
n.6877C>T
c.2705C>T (p.Ala902Val)
c.26387C>T (p.Ala8796Val)
c.26375C>T (p.Ala8792Val)
c.26366C>T (p.Ala8789Val)
c.26345C>T (p.Ala8782Val)
c.26336C>T (p.Ala8779Val)
c.26330C>T (p.Ala8777Val)
c.26318C>T (p.Ala8773Val)
c.26315C>T (p.Ala8772Val)
c.26276C>T (p.Ala8759Val)
c.26261C>T (p.Ala8754Val)
c.26246C>T (p.Ala8749Val)
c.26234C>T (p.Ala8745Val)
c.26231C>T (p.Ala8744Val)
c.26228C>T (p.Ala8743Val)
c.*51C>T (n.*51C>T)
c.26384C>T (p.Ala8795Val)
c.26372C>T (p.Ala8791Val)
c.26222C>T (p.Ala8741Val)
c.24662C>T (p.Ala8221Val)
c.24155C>T (p.Ala8052Val)
c.19622C>T (p.Ala6541Val)
c.26360C>T (p.Ala8787Val)
c.26309C>T (p.Ala8770Val)
c.26273C>T (p.Ala8758Val)
c.26120C>T (p.Ala8707Val)
6g.152122590G>CCA366089007ESR1,SYNE1c.2774C>G (p.Ala925Gly)
c.26240C>G (p.Ala8747Gly)
c.26096C>G (p.Ala8699Gly)
c.1583C>G
c.1958C>G
c.1825C>G
c.2090C>G (n.2090C>G)
c.25025C>G (p.Ala8342Gly)
n.2988C>G
c.5016C>G (n.5016C>G)
n.9932C>G
c.4119C>G (n.4119C>G)
n.9824C>G
c.851-2676G>C (n.851-2676G>C)
n.2854C>G
n.6877C>G
c.2705C>G (p.Ala902Gly)
c.26387C>G (p.Ala8796Gly)
c.26375C>G (p.Ala8792Gly)
c.26366C>G (p.Ala8789Gly)
c.26345C>G (p.Ala8782Gly)
c.26336C>G (p.Ala8779Gly)
c.26330C>G (p.Ala8777Gly)
c.26318C>G (p.Ala8773Gly)
c.26315C>G (p.Ala8772Gly)
c.26276C>G (p.Ala8759Gly)
c.26261C>G (p.Ala8754Gly)
c.26246C>G (p.Ala8749Gly)
c.26234C>G (p.Ala8745Gly)
c.26231C>G (p.Ala8744Gly)
c.26228C>G (p.Ala8743Gly)
c.*51C>G (n.*51C>G)
c.26384C>G (p.Ala8795Gly)
c.26372C>G (p.Ala8791Gly)
c.26222C>G (p.Ala8741Gly)
c.24662C>G (p.Ala8221Gly)
c.24155C>G (p.Ala8052Gly)
c.19622C>G (p.Ala6541Gly)
c.26360C>G (p.Ala8787Gly)
c.26309C>G (p.Ala8770Gly)
c.26273C>G (p.Ala8758Gly)
c.26120C>G (p.Ala8707Gly)
6g.152122590G>TCA366089009ESR1,SYNE1c.2774C>A (p.Ala925Glu)
c.26240C>A (p.Ala8747Glu)
c.26096C>A (p.Ala8699Glu)
c.1583C>A
c.1958C>A
c.1825C>A
c.2090C>A (n.2090C>A)
c.25025C>A (p.Ala8342Glu)
n.2988C>A
c.5016C>A (n.5016C>A)
n.9932C>A
c.4119C>A (n.4119C>A)
n.9824C>A
c.851-2676G>T (n.851-2676G>T)
n.2854C>A
n.6877C>A
c.2705C>A (p.Ala902Glu)
c.26387C>A (p.Ala8796Glu)
c.26375C>A (p.Ala8792Glu)
c.26366C>A (p.Ala8789Glu)
c.26345C>A (p.Ala8782Glu)
c.26336C>A (p.Ala8779Glu)
c.26330C>A (p.Ala8777Glu)
c.26318C>A (p.Ala8773Glu)
c.26315C>A (p.Ala8772Glu)
c.26276C>A (p.Ala8759Glu)
c.26261C>A (p.Ala8754Glu)
c.26246C>A (p.Ala8749Glu)
c.26234C>A (p.Ala8745Glu)
c.26231C>A (p.Ala8744Glu)
c.26228C>A (p.Ala8743Glu)
c.*51C>A (n.*51C>A)
c.26384C>A (p.Ala8795Glu)
c.26372C>A (p.Ala8791Glu)
c.26222C>A (p.Ala8741Glu)
c.24662C>A (p.Ala8221Glu)
c.24155C>A (p.Ala8052Glu)
c.19622C>A (p.Ala6541Glu)
c.26360C>A (p.Ala8787Glu)
c.26309C>A (p.Ala8770Glu)
c.26273C>A (p.Ala8758Glu)
c.26120C>A (p.Ala8707Glu)
6g.152122591C>ACA366089013ESR1,SYNE1c.2773G>T (p.Ala925Ser)
c.26239G>T (p.Ala8747Ser)
c.26095G>T (p.Ala8699Ser)
c.1582G>T
c.1957G>T
c.1824G>T
c.2089G>T (n.2089G>T)
c.25024G>T (p.Ala8342Ser)
n.2987G>T
c.5015G>T (n.5015G>T)
n.9931G>T
c.4118G>T (n.4118G>T)
n.9823G>T
c.851-2675C>A (n.851-2675C>A)
n.2853G>T
n.6876G>T
c.2704G>T (p.Ala902Ser)
c.26386G>T (p.Ala8796Ser)
c.26374G>T (p.Ala8792Ser)
c.26365G>T (p.Ala8789Ser)
c.26344G>T (p.Ala8782Ser)
c.26335G>T (p.Ala8779Ser)
c.26329G>T (p.Ala8777Ser)
c.26317G>T (p.Ala8773Ser)
c.26314G>T (p.Ala8772Ser)
c.26275G>T (p.Ala8759Ser)
c.26260G>T (p.Ala8754Ser)
c.26245G>T (p.Ala8749Ser)
c.26233G>T (p.Ala8745Ser)
c.26230G>T (p.Ala8744Ser)
c.26227G>T (p.Ala8743Ser)
c.*50G>T (n.*50G>T)
c.26383G>T (p.Ala8795Ser)
c.26371G>T (p.Ala8791Ser)
c.26221G>T (p.Ala8741Ser)
c.24661G>T (p.Ala8221Ser)
c.24154G>T (p.Ala8052Ser)
c.19621G>T (p.Ala6541Ser)
c.26359G>T (p.Ala8787Ser)
c.26308G>T (p.Ala8770Ser)
c.26272G>T (p.Ala8758Ser)
c.26119G>T (p.Ala8707Ser)
6g.152122591C>GCA366089014ESR1,SYNE1c.2773G>C (p.Ala925Pro)
c.26239G>C (p.Ala8747Pro)
c.26095G>C (p.Ala8699Pro)
c.1582G>C
c.1957G>C
c.1824G>C
c.2089G>C (n.2089G>C)
c.25024G>C (p.Ala8342Pro)
n.2987G>C
c.5015G>C (n.5015G>C)
n.9931G>C
c.4118G>C (n.4118G>C)
n.9823G>C
c.851-2675C>G (n.851-2675C>G)
n.2853G>C
n.6876G>C
c.2704G>C (p.Ala902Pro)
c.26386G>C (p.Ala8796Pro)
c.26374G>C (p.Ala8792Pro)
c.26365G>C (p.Ala8789Pro)
c.26344G>C (p.Ala8782Pro)
c.26335G>C (p.Ala8779Pro)
c.26329G>C (p.Ala8777Pro)
c.26317G>C (p.Ala8773Pro)
c.26314G>C (p.Ala8772Pro)
c.26275G>C (p.Ala8759Pro)
c.26260G>C (p.Ala8754Pro)
c.26245G>C (p.Ala8749Pro)
c.26233G>C (p.Ala8745Pro)
c.26230G>C (p.Ala8744Pro)
c.26227G>C (p.Ala8743Pro)
c.*50G>C (n.*50G>C)
c.26383G>C (p.Ala8795Pro)
c.26371G>C (p.Ala8791Pro)
c.26221G>C (p.Ala8741Pro)
c.24661G>C (p.Ala8221Pro)
c.24154G>C (p.Ala8052Pro)
c.19621G>C (p.Ala6541Pro)
c.26359G>C (p.Ala8787Pro)
c.26308G>C (p.Ala8770Pro)
c.26272G>C (p.Ala8758Pro)
c.26119G>C (p.Ala8707Pro)
6g.152122591C>TCA366089016ESR1,SYNE1c.2773G>A (p.Ala925Thr)
c.26239G>A (p.Ala8747Thr)
c.26095G>A (p.Ala8699Thr)
c.1582G>A
c.1957G>A
c.1824G>A
c.2089G>A (n.2089G>A)
c.25024G>A (p.Ala8342Thr)
n.2987G>A
c.5015G>A (n.5015G>A)
n.9931G>A
c.4118G>A (n.4118G>A)
n.9823G>A
c.851-2675C>T (n.851-2675C>T)
n.2853G>A
n.6876G>A
c.2704G>A (p.Ala902Thr)
c.26386G>A (p.Ala8796Thr)
c.26374G>A (p.Ala8792Thr)
c.26365G>A (p.Ala8789Thr)
c.26344G>A (p.Ala8782Thr)
c.26335G>A (p.Ala8779Thr)
c.26329G>A (p.Ala8777Thr)
c.26317G>A (p.Ala8773Thr)
c.26314G>A (p.Ala8772Thr)
c.26275G>A (p.Ala8759Thr)
c.26260G>A (p.Ala8754Thr)
c.26245G>A (p.Ala8749Thr)
c.26233G>A (p.Ala8745Thr)
c.26230G>A (p.Ala8744Thr)
c.26227G>A (p.Ala8743Thr)
c.*50G>A (n.*50G>A)
c.26383G>A (p.Ala8795Thr)
c.26371G>A (p.Ala8791Thr)
c.26221G>A (p.Ala8741Thr)
c.24661G>A (p.Ala8221Thr)
c.24154G>A (p.Ala8052Thr)
c.19621G>A (p.Ala6541Thr)
c.26359G>A (p.Ala8787Thr)
c.26308G>A (p.Ala8770Thr)
c.26272G>A (p.Ala8758Thr)
c.26119G>A (p.Ala8707Thr)
 gnomAD v4
6g.152122592T>ACA452969608ESR1,SYNE1c.2772A>T (p.Arg924=)
c.26238A>T (p.Arg8746=)
c.26094A>T (p.Arg8698=)
c.1581A>T
c.1956A>T
c.1823A>T
c.2088A>T (n.2088A>T)
c.25023A>T (p.Arg8341=)
n.2986A>T
c.5014A>T (n.5014A>T)
n.9930A>T
c.4117A>T (n.4117A>T)
n.9822A>T
c.851-2674T>A (n.851-2674T>A)
n.2852A>T
n.6875A>T
c.2703A>T (p.Arg901=)
c.26385A>T (p.Arg8795=)
c.26373A>T (p.Arg8791=)
c.26364A>T (p.Arg8788=)
c.26343A>T (p.Arg8781=)
c.26334A>T (p.Arg8778=)
c.26328A>T (p.Arg8776=)
c.26316A>T (p.Arg8772=)
c.26313A>T (p.Arg8771=)
c.26274A>T (p.Arg8758=)
c.26259A>T (p.Arg8753=)
c.26244A>T (p.Arg8748=)
c.26232A>T (p.Arg8744=)
c.26229A>T (p.Arg8743=)
c.26226A>T (p.Arg8742=)
c.*49A>T (n.*49A>T)
c.26382A>T (p.Arg8794=)
c.26370A>T (p.Arg8790=)
c.26220A>T (p.Arg8740=)
c.24660A>T (p.Arg8220=)
c.24153A>T (p.Arg8051=)
c.19620A>T (p.Arg6540=)
c.26358A>T (p.Arg8786=)
c.26307A>T (p.Arg8769=)
c.26271A>T (p.Arg8757=)
c.26118A>T (p.Arg8706=)
6g.152122592T>CCA452969609ESR1,SYNE1c.2772A>G (p.Arg924=)
c.26238A>G (p.Arg8746=)
c.26094A>G (p.Arg8698=)
c.1581A>G
c.1956A>G
c.1823A>G
c.2088A>G (n.2088A>G)
c.25023A>G (p.Arg8341=)
n.2986A>G
c.5014A>G (n.5014A>G)
n.9930A>G
c.4117A>G (n.4117A>G)
n.9822A>G
c.851-2674T>C (n.851-2674T>C)
n.2852A>G
n.6875A>G
c.2703A>G (p.Arg901=)
c.26385A>G (p.Arg8795=)
c.26373A>G (p.Arg8791=)
c.26364A>G (p.Arg8788=)
c.26343A>G (p.Arg8781=)
c.26334A>G (p.Arg8778=)
c.26328A>G (p.Arg8776=)
c.26316A>G (p.Arg8772=)
c.26313A>G (p.Arg8771=)
c.26274A>G (p.Arg8758=)
c.26259A>G (p.Arg8753=)
c.26244A>G (p.Arg8748=)
c.26232A>G (p.Arg8744=)
c.26229A>G (p.Arg8743=)
c.26226A>G (p.Arg8742=)
c.*49A>G (n.*49A>G)
c.26382A>G (p.Arg8794=)
c.26370A>G (p.Arg8790=)
c.26220A>G (p.Arg8740=)
c.24660A>G (p.Arg8220=)
c.24153A>G (p.Arg8051=)
c.19620A>G (p.Arg6540=)
c.26358A>G (p.Arg8786=)
c.26307A>G (p.Arg8769=)
c.26271A>G (p.Arg8757=)
c.26118A>G (p.Arg8706=)
6g.152122592T>GCA452969610ESR1,SYNE1c.2772A>C (p.Arg924=)
c.26238A>C (p.Arg8746=)
c.26094A>C (p.Arg8698=)
c.1581A>C
c.1956A>C
c.1823A>C
c.2088A>C (n.2088A>C)
c.25023A>C (p.Arg8341=)
n.2986A>C
c.5014A>C (n.5014A>C)
n.9930A>C
c.4117A>C (n.4117A>C)
n.9822A>C
c.851-2674T>G (n.851-2674T>G)
n.2852A>C
n.6875A>C
c.2703A>C (p.Arg901=)
c.26385A>C (p.Arg8795=)
c.26373A>C (p.Arg8791=)
c.26364A>C (p.Arg8788=)
c.26343A>C (p.Arg8781=)
c.26334A>C (p.Arg8778=)
c.26328A>C (p.Arg8776=)
c.26316A>C (p.Arg8772=)
c.26313A>C (p.Arg8771=)
c.26274A>C (p.Arg8758=)
c.26259A>C (p.Arg8753=)
c.26244A>C (p.Arg8748=)
c.26232A>C (p.Arg8744=)
c.26229A>C (p.Arg8743=)
c.26226A>C (p.Arg8742=)
c.*49A>C (n.*49A>C)
c.26382A>C (p.Arg8794=)
c.26370A>C (p.Arg8790=)
c.26220A>C (p.Arg8740=)
c.24660A>C (p.Arg8220=)
c.24153A>C (p.Arg8051=)
c.19620A>C (p.Arg6540=)
c.26358A>C (p.Arg8786=)
c.26307A>C (p.Arg8769=)
c.26271A>C (p.Arg8757=)
c.26118A>C (p.Arg8706=)
6g.152122593C>ACA366089019ESR1,SYNE1c.2771G>T (p.Arg924Leu)
c.26237G>T (p.Arg8746Leu)
c.26093G>T (p.Arg8698Leu)
c.1580G>T
c.1955G>T
c.1822G>T
c.2087G>T (n.2087G>T)
c.25022G>T (p.Arg8341Leu)
n.2985G>T
c.5013G>T (n.5013G>T)
n.9929G>T
c.4116G>T (n.4116G>T)
n.9821G>T
c.851-2673C>A (n.851-2673C>A)
n.2851G>T
n.6874G>T
c.2702G>T (p.Arg901Leu)
c.26384G>T (p.Arg8795Leu)
c.26372G>T (p.Arg8791Leu)
c.26363G>T (p.Arg8788Leu)
c.26342G>T (p.Arg8781Leu)
c.26333G>T (p.Arg8778Leu)
c.26327G>T (p.Arg8776Leu)
c.26315G>T (p.Arg8772Leu)
c.26312G>T (p.Arg8771Leu)
c.26273G>T (p.Arg8758Leu)
c.26258G>T (p.Arg8753Leu)
c.26243G>T (p.Arg8748Leu)
c.26231G>T (p.Arg8744Leu)
c.26228G>T (p.Arg8743Leu)
c.26225G>T (p.Arg8742Leu)
c.*48G>T (n.*48G>T)
c.26381G>T (p.Arg8794Leu)
c.26369G>T (p.Arg8790Leu)
c.26219G>T (p.Arg8740Leu)
c.24659G>T (p.Arg8220Leu)
c.24152G>T (p.Arg8051Leu)
c.19619G>T (p.Arg6540Leu)
c.26357G>T (p.Arg8786Leu)
c.26306G>T (p.Arg8769Leu)
c.26270G>T (p.Arg8757Leu)
c.26117G>T (p.Arg8706Leu)
 gnomAD v4
6g.152122593C=CA1673189047ESR1,SYNE1c.2771G= (p.Arg924=)
c.26237G= (p.Arg8746=)
c.26093G= (p.Arg8698=)
c.1580G=
c.1955G=
c.1822G=
c.2087G= (n.2087G=)
c.25022G= (p.Arg8341=)
n.2985G=
c.5013G= (n.5013G=)
n.9929G=
c.4116G= (n.4116G=)
n.9821G=
c.851-2673C= (n.851-2673C=)
n.2851G=
n.6874G=
c.2702G= (p.Arg901=)
c.26384G= (p.Arg8795=)
c.26372G= (p.Arg8791=)
c.26363G= (p.Arg8788=)
c.26342G= (p.Arg8781=)
c.26333G= (p.Arg8778=)
c.26327G= (p.Arg8776=)
c.26315G= (p.Arg8772=)
c.26312G= (p.Arg8771=)
c.26273G= (p.Arg8758=)
c.26258G= (p.Arg8753=)
c.26243G= (p.Arg8748=)
c.26231G= (p.Arg8744=)
c.26228G= (p.Arg8743=)
c.26225G= (p.Arg8742=)
c.*48G= (n.*48G=)
c.26381G= (p.Arg8794=)
c.26369G= (p.Arg8790=)
c.26219G= (p.Arg8740=)
c.24659G= (p.Arg8220=)
c.24152G= (p.Arg8051=)
c.19619G= (p.Arg6540=)
c.26357G= (p.Arg8786=)
c.26306G= (p.Arg8769=)
c.26270G= (p.Arg8757=)
c.26117G= (p.Arg8706=)
6g.152122593C>GCA4052599ESR1,SYNE1c.2771G>C (p.Arg924Pro)
c.26237G>C (p.Arg8746Pro)
c.26093G>C (p.Arg8698Pro)
c.1580G>C
c.1955G>C
c.1822G>C
c.2087G>C (n.2087G>C)
c.25022G>C (p.Arg8341Pro)
n.2985G>C
c.5013G>C (n.5013G>C)
n.9929G>C
c.4116G>C (n.4116G>C)
n.9821G>C
c.851-2673C>G (n.851-2673C>G)
n.2851G>C
n.6874G>C
c.2702G>C (p.Arg901Pro)
c.26384G>C (p.Arg8795Pro)
c.26372G>C (p.Arg8791Pro)
c.26363G>C (p.Arg8788Pro)
c.26342G>C (p.Arg8781Pro)
c.26333G>C (p.Arg8778Pro)
c.26327G>C (p.Arg8776Pro)
c.26315G>C (p.Arg8772Pro)
c.26312G>C (p.Arg8771Pro)
c.26273G>C (p.Arg8758Pro)
c.26258G>C (p.Arg8753Pro)
c.26243G>C (p.Arg8748Pro)
c.26231G>C (p.Arg8744Pro)
c.26228G>C (p.Arg8743Pro)
c.26225G>C (p.Arg8742Pro)
c.*48G>C (n.*48G>C)
c.26381G>C (p.Arg8794Pro)
c.26369G>C (p.Arg8790Pro)
c.26219G>C (p.Arg8740Pro)
c.24659G>C (p.Arg8220Pro)
c.24152G>C (p.Arg8051Pro)
c.19619G>C (p.Arg6540Pro)
c.26357G>C (p.Arg8786Pro)
c.26306G>C (p.Arg8769Pro)
c.26270G>C (p.Arg8757Pro)
c.26117G>C (p.Arg8706Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122593C>TCA4052598ESR1,SYNE1c.2771G>A (p.Arg924Gln)
c.26237G>A (p.Arg8746Gln)
c.26093G>A (p.Arg8698Gln)
c.1580G>A
c.1955G>A
c.1822G>A
c.2087G>A (n.2087G>A)
c.25022G>A (p.Arg8341Gln)
n.2985G>A
c.5013G>A (n.5013G>A)
n.9929G>A
c.4116G>A (n.4116G>A)
n.9821G>A
c.851-2673C>T (n.851-2673C>T)
n.2851G>A
n.6874G>A
c.2702G>A (p.Arg901Gln)
c.26384G>A (p.Arg8795Gln)
c.26372G>A (p.Arg8791Gln)
c.26363G>A (p.Arg8788Gln)
c.26342G>A (p.Arg8781Gln)
c.26333G>A (p.Arg8778Gln)
c.26327G>A (p.Arg8776Gln)
c.26315G>A (p.Arg8772Gln)
c.26312G>A (p.Arg8771Gln)
c.26273G>A (p.Arg8758Gln)
c.26258G>A (p.Arg8753Gln)
c.26243G>A (p.Arg8748Gln)
c.26231G>A (p.Arg8744Gln)
c.26228G>A (p.Arg8743Gln)
c.26225G>A (p.Arg8742Gln)
c.*48G>A (n.*48G>A)
c.26381G>A (p.Arg8794Gln)
c.26369G>A (p.Arg8790Gln)
c.26219G>A (p.Arg8740Gln)
c.24659G>A (p.Arg8220Gln)
c.24152G>A (p.Arg8051Gln)
c.19619G>A (p.Arg6540Gln)
c.26357G>A (p.Arg8786Gln)
c.26306G>A (p.Arg8769Gln)
c.26270G>A (p.Arg8757Gln)
c.26117G>A (p.Arg8706Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122594G>ACA4052600ESR1,SYNE1c.2770C>T (p.Arg924Ter)
c.26236C>T (p.Arg8746Ter)
c.26092C>T (p.Arg8698Ter)
c.1579C>T
c.1954C>T
c.1821C>T
c.2086C>T (n.2086C>T)
c.25021C>T (p.Arg8341Ter)
n.2984C>T
c.5012C>T (n.5012C>T)
n.9928C>T
c.4115C>T (n.4115C>T)
n.9820C>T
c.851-2672G>A (n.851-2672G>A)
n.2850C>T
n.6873C>T
c.2701C>T (p.Arg901Ter)
c.26383C>T (p.Arg8795Ter)
c.26371C>T (p.Arg8791Ter)
c.26362C>T (p.Arg8788Ter)
c.26341C>T (p.Arg8781Ter)
c.26332C>T (p.Arg8778Ter)
c.26326C>T (p.Arg8776Ter)
c.26314C>T (p.Arg8772Ter)
c.26311C>T (p.Arg8771Ter)
c.26272C>T (p.Arg8758Ter)
c.26257C>T (p.Arg8753Ter)
c.26242C>T (p.Arg8748Ter)
c.26230C>T (p.Arg8744Ter)
c.26227C>T (p.Arg8743Ter)
c.26224C>T (p.Arg8742Ter)
c.*47C>T (n.*47C>T)
c.26380C>T (p.Arg8794Ter)
c.26368C>T (p.Arg8790Ter)
c.26218C>T (p.Arg8740Ter)
c.24658C>T (p.Arg8220Ter)
c.24151C>T (p.Arg8051Ter)
c.19618C>T (p.Arg6540Ter)
c.26356C>T (p.Arg8786Ter)
c.26305C>T (p.Arg8769Ter)
c.26269C>T (p.Arg8757Ter)
c.26116C>T (p.Arg8706Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122594G>CCA366089023ESR1,SYNE1c.2770C>G (p.Arg924Gly)
c.26236C>G (p.Arg8746Gly)
c.26092C>G (p.Arg8698Gly)
c.1579C>G
c.1954C>G
c.1821C>G
c.2086C>G (n.2086C>G)
c.25021C>G (p.Arg8341Gly)
n.2984C>G
c.5012C>G (n.5012C>G)
n.9928C>G
c.4115C>G (n.4115C>G)
n.9820C>G
c.851-2672G>C (n.851-2672G>C)
n.2850C>G
n.6873C>G
c.2701C>G (p.Arg901Gly)
c.26383C>G (p.Arg8795Gly)
c.26371C>G (p.Arg8791Gly)
c.26362C>G (p.Arg8788Gly)
c.26341C>G (p.Arg8781Gly)
c.26332C>G (p.Arg8778Gly)
c.26326C>G (p.Arg8776Gly)
c.26314C>G (p.Arg8772Gly)
c.26311C>G (p.Arg8771Gly)
c.26272C>G (p.Arg8758Gly)
c.26257C>G (p.Arg8753Gly)
c.26242C>G (p.Arg8748Gly)
c.26230C>G (p.Arg8744Gly)
c.26227C>G (p.Arg8743Gly)
c.26224C>G (p.Arg8742Gly)
c.*47C>G (n.*47C>G)
c.26380C>G (p.Arg8794Gly)
c.26368C>G (p.Arg8790Gly)
c.26218C>G (p.Arg8740Gly)
c.24658C>G (p.Arg8220Gly)
c.24151C>G (p.Arg8051Gly)
c.19618C>G (p.Arg6540Gly)
c.26356C>G (p.Arg8786Gly)
c.26305C>G (p.Arg8769Gly)
c.26269C>G (p.Arg8757Gly)
c.26116C>G (p.Arg8706Gly)
6g.152122594G=CA1673189057ESR1,SYNE1c.2770C= (p.Arg924=)
c.26236C= (p.Arg8746=)
c.26092C= (p.Arg8698=)
c.1579C=
c.1954C=
c.1821C=
c.2086C= (n.2086C=)
c.25021C= (p.Arg8341=)
n.2984C=
c.5012C= (n.5012C=)
n.9928C=
c.4115C= (n.4115C=)
n.9820C=
c.851-2672G= (n.851-2672G=)
n.2850C=
n.6873C=
c.2701C= (p.Arg901=)
c.26383C= (p.Arg8795=)
c.26371C= (p.Arg8791=)
c.26362C= (p.Arg8788=)
c.26341C= (p.Arg8781=)
c.26332C= (p.Arg8778=)
c.26326C= (p.Arg8776=)
c.26314C= (p.Arg8772=)
c.26311C= (p.Arg8771=)
c.26272C= (p.Arg8758=)
c.26257C= (p.Arg8753=)
c.26242C= (p.Arg8748=)
c.26230C= (p.Arg8744=)
c.26227C= (p.Arg8743=)
c.26224C= (p.Arg8742=)
c.*47C= (n.*47C=)
c.26380C= (p.Arg8794=)
c.26368C= (p.Arg8790=)
c.26218C= (p.Arg8740=)
c.24658C= (p.Arg8220=)
c.24151C= (p.Arg8051=)
c.19618C= (p.Arg6540=)
c.26356C= (p.Arg8786=)
c.26305C= (p.Arg8769=)
c.26269C= (p.Arg8757=)
c.26116C= (p.Arg8706=)
6g.152122594G>TCA452969613ESR1,SYNE1c.2770C>A (p.Arg924=)
c.26236C>A (p.Arg8746=)
c.26092C>A (p.Arg8698=)
c.1579C>A
c.1954C>A
c.1821C>A
c.2086C>A (n.2086C>A)
c.25021C>A (p.Arg8341=)
n.2984C>A
c.5012C>A (n.5012C>A)
n.9928C>A
c.4115C>A (n.4115C>A)
n.9820C>A
c.851-2672G>T (n.851-2672G>T)
n.2850C>A
n.6873C>A
c.2701C>A (p.Arg901=)
c.26383C>A (p.Arg8795=)
c.26371C>A (p.Arg8791=)
c.26362C>A (p.Arg8788=)
c.26341C>A (p.Arg8781=)
c.26332C>A (p.Arg8778=)
c.26326C>A (p.Arg8776=)
c.26314C>A (p.Arg8772=)
c.26311C>A (p.Arg8771=)
c.26272C>A (p.Arg8758=)
c.26257C>A (p.Arg8753=)
c.26242C>A (p.Arg8748=)
c.26230C>A (p.Arg8744=)
c.26227C>A (p.Arg8743=)
c.26224C>A (p.Arg8742=)
c.*47C>A (n.*47C>A)
c.26380C>A (p.Arg8794=)
c.26368C>A (p.Arg8790=)
c.26218C>A (p.Arg8740=)
c.24658C>A (p.Arg8220=)
c.24151C>A (p.Arg8051=)
c.19618C>A (p.Arg6540=)
c.26356C>A (p.Arg8786=)
c.26305C>A (p.Arg8769=)
c.26269C>A (p.Arg8757=)
c.26116C>A (p.Arg8706=)
6g.152122595G>ACA452969615ESR1,SYNE1c.2769C>T (p.Leu923=)
c.26235C>T (p.Leu8745=)
c.26091C>T (p.Leu8697=)
c.1578C>T
c.1953C>T
c.1820C>T
c.2085C>T (n.2085C>T)
c.25020C>T (p.Leu8340=)
n.2983C>T
c.5011C>T (n.5011C>T)
n.9927C>T
c.4114C>T (n.4114C>T)
n.9819C>T
c.851-2671G>A (n.851-2671G>A)
n.2849C>T
n.6872C>T
c.2700C>T (p.Leu900=)
c.26382C>T (p.Leu8794=)
c.26370C>T (p.Leu8790=)
c.26361C>T (p.Leu8787=)
c.26340C>T (p.Leu8780=)
c.26331C>T (p.Leu8777=)
c.26325C>T (p.Leu8775=)
c.26313C>T (p.Leu8771=)
c.26310C>T (p.Leu8770=)
c.26271C>T (p.Leu8757=)
c.26256C>T (p.Leu8752=)
c.26241C>T (p.Leu8747=)
c.26229C>T (p.Leu8743=)
c.26226C>T (p.Leu8742=)
c.26223C>T (p.Leu8741=)
c.*46C>T (n.*46C>T)
c.26379C>T (p.Leu8793=)
c.26367C>T (p.Leu8789=)
c.26217C>T (p.Leu8739=)
c.24657C>T (p.Leu8219=)
c.24150C>T (p.Leu8050=)
c.19617C>T (p.Leu6539=)
c.26355C>T (p.Leu8785=)
c.26304C>T (p.Leu8768=)
c.26268C>T (p.Leu8756=)
c.26115C>T (p.Leu8705=)
 dbSNP gnomAD v4
6g.152122595G>CCA452969616ESR1,SYNE1c.2769C>G (p.Leu923=)
c.26235C>G (p.Leu8745=)
c.26091C>G (p.Leu8697=)
c.1578C>G
c.1953C>G
c.1820C>G
c.2085C>G (n.2085C>G)
c.25020C>G (p.Leu8340=)
n.2983C>G
c.5011C>G (n.5011C>G)
n.9927C>G
c.4114C>G (n.4114C>G)
n.9819C>G
c.851-2671G>C (n.851-2671G>C)
n.2849C>G
n.6872C>G
c.2700C>G (p.Leu900=)
c.26382C>G (p.Leu8794=)
c.26370C>G (p.Leu8790=)
c.26361C>G (p.Leu8787=)
c.26340C>G (p.Leu8780=)
c.26331C>G (p.Leu8777=)
c.26325C>G (p.Leu8775=)
c.26313C>G (p.Leu8771=)
c.26310C>G (p.Leu8770=)
c.26271C>G (p.Leu8757=)
c.26256C>G (p.Leu8752=)
c.26241C>G (p.Leu8747=)
c.26229C>G (p.Leu8743=)
c.26226C>G (p.Leu8742=)
c.26223C>G (p.Leu8741=)
c.*46C>G (n.*46C>G)
c.26379C>G (p.Leu8793=)
c.26367C>G (p.Leu8789=)
c.26217C>G (p.Leu8739=)
c.24657C>G (p.Leu8219=)
c.24150C>G (p.Leu8050=)
c.19617C>G (p.Leu6539=)
c.26355C>G (p.Leu8785=)
c.26304C>G (p.Leu8768=)
c.26268C>G (p.Leu8756=)
c.26115C>G (p.Leu8705=)
6g.152122595G=CA1673189060ESR1,SYNE1c.2769C= (p.Leu923=)
c.26235C= (p.Leu8745=)
c.26091C= (p.Leu8697=)
c.1578C=
c.1953C=
c.1820C=
c.2085C= (n.2085C=)
c.25020C= (p.Leu8340=)
n.2983C=
c.5011C= (n.5011C=)
n.9927C=
c.4114C= (n.4114C=)
n.9819C=
c.851-2671G= (n.851-2671G=)
n.2849C=
n.6872C=
c.2700C= (p.Leu900=)
c.26382C= (p.Leu8794=)
c.26370C= (p.Leu8790=)
c.26361C= (p.Leu8787=)
c.26340C= (p.Leu8780=)
c.26331C= (p.Leu8777=)
c.26325C= (p.Leu8775=)
c.26313C= (p.Leu8771=)
c.26310C= (p.Leu8770=)
c.26271C= (p.Leu8757=)
c.26256C= (p.Leu8752=)
c.26241C= (p.Leu8747=)
c.26229C= (p.Leu8743=)
c.26226C= (p.Leu8742=)
c.26223C= (p.Leu8741=)
c.*46C= (n.*46C=)
c.26379C= (p.Leu8793=)
c.26367C= (p.Leu8789=)
c.26217C= (p.Leu8739=)
c.24657C= (p.Leu8219=)
c.24150C= (p.Leu8050=)
c.19617C= (p.Leu6539=)
c.26355C= (p.Leu8785=)
c.26304C= (p.Leu8768=)
c.26268C= (p.Leu8756=)
c.26115C= (p.Leu8705=)
6g.152122595G>TCA452969617ESR1,SYNE1c.2769C>A (p.Leu923=)
c.26235C>A (p.Leu8745=)
c.26091C>A (p.Leu8697=)
c.1578C>A
c.1953C>A
c.1820C>A
c.2085C>A (n.2085C>A)
c.25020C>A (p.Leu8340=)
n.2983C>A
c.5011C>A (n.5011C>A)
n.9927C>A
c.4114C>A (n.4114C>A)
n.9819C>A
c.851-2671G>T (n.851-2671G>T)
n.2849C>A
n.6872C>A
c.2700C>A (p.Leu900=)
c.26382C>A (p.Leu8794=)
c.26370C>A (p.Leu8790=)
c.26361C>A (p.Leu8787=)
c.26340C>A (p.Leu8780=)
c.26331C>A (p.Leu8777=)
c.26325C>A (p.Leu8775=)
c.26313C>A (p.Leu8771=)
c.26310C>A (p.Leu8770=)
c.26271C>A (p.Leu8757=)
c.26256C>A (p.Leu8752=)
c.26241C>A (p.Leu8747=)
c.26229C>A (p.Leu8743=)
c.26226C>A (p.Leu8742=)
c.26223C>A (p.Leu8741=)
c.*46C>A (n.*46C>A)
c.26379C>A (p.Leu8793=)
c.26367C>A (p.Leu8789=)
c.26217C>A (p.Leu8739=)
c.24657C>A (p.Leu8219=)
c.24150C>A (p.Leu8050=)
c.19617C>A (p.Leu6539=)
c.26355C>A (p.Leu8785=)
c.26304C>A (p.Leu8768=)
c.26268C>A (p.Leu8756=)
c.26115C>A (p.Leu8705=)
6g.152122596A>CCA366089025ESR1,SYNE1c.2768T>G (p.Leu923Arg)
c.26234T>G (p.Leu8745Arg)
c.26090T>G (p.Leu8697Arg)
c.1577T>G
c.1952T>G
c.1819T>G
c.2084T>G (n.2084T>G)
c.25019T>G (p.Leu8340Arg)
n.2982T>G
c.5010T>G (n.5010T>G)
n.9926T>G
c.4113T>G (n.4113T>G)
n.9818T>G
c.851-2670A>C (n.851-2670A>C)
n.2848T>G
n.6871T>G
c.2699T>G (p.Leu900Arg)
c.26381T>G (p.Leu8794Arg)
c.26369T>G (p.Leu8790Arg)
c.26360T>G (p.Leu8787Arg)
c.26339T>G (p.Leu8780Arg)
c.26330T>G (p.Leu8777Arg)
c.26324T>G (p.Leu8775Arg)
c.26312T>G (p.Leu8771Arg)
c.26309T>G (p.Leu8770Arg)
c.26270T>G (p.Leu8757Arg)
c.26255T>G (p.Leu8752Arg)
c.26240T>G (p.Leu8747Arg)
c.26228T>G (p.Leu8743Arg)
c.26225T>G (p.Leu8742Arg)
c.26222T>G (p.Leu8741Arg)
c.*45T>G (n.*45T>G)
c.26378T>G (p.Leu8793Arg)
c.26366T>G (p.Leu8789Arg)
c.26216T>G (p.Leu8739Arg)
c.24656T>G (p.Leu8219Arg)
c.24149T>G (p.Leu8050Arg)
c.19616T>G (p.Leu6539Arg)
c.26354T>G (p.Leu8785Arg)
c.26303T>G (p.Leu8768Arg)
c.26267T>G (p.Leu8756Arg)
c.26114T>G (p.Leu8705Arg)
6g.152122596A>GCA366089027ESR1,SYNE1c.2768T>C (p.Leu923Pro)
c.26234T>C (p.Leu8745Pro)
c.26090T>C (p.Leu8697Pro)
c.1577T>C
c.1952T>C
c.1819T>C
c.2084T>C (n.2084T>C)
c.25019T>C (p.Leu8340Pro)
n.2982T>C
c.5010T>C (n.5010T>C)
n.9926T>C
c.4113T>C (n.4113T>C)
n.9818T>C
c.851-2670A>G (n.851-2670A>G)
n.2848T>C
n.6871T>C
c.2699T>C (p.Leu900Pro)
c.26381T>C (p.Leu8794Pro)
c.26369T>C (p.Leu8790Pro)
c.26360T>C (p.Leu8787Pro)
c.26339T>C (p.Leu8780Pro)
c.26330T>C (p.Leu8777Pro)
c.26324T>C (p.Leu8775Pro)
c.26312T>C (p.Leu8771Pro)
c.26309T>C (p.Leu8770Pro)
c.26270T>C (p.Leu8757Pro)
c.26255T>C (p.Leu8752Pro)
c.26240T>C (p.Leu8747Pro)
c.26228T>C (p.Leu8743Pro)
c.26225T>C (p.Leu8742Pro)
c.26222T>C (p.Leu8741Pro)
c.*45T>C (n.*45T>C)
c.26378T>C (p.Leu8793Pro)
c.26366T>C (p.Leu8789Pro)
c.26216T>C (p.Leu8739Pro)
c.24656T>C (p.Leu8219Pro)
c.24149T>C (p.Leu8050Pro)
c.19616T>C (p.Leu6539Pro)
c.26354T>C (p.Leu8785Pro)
c.26303T>C (p.Leu8768Pro)
c.26267T>C (p.Leu8756Pro)
c.26114T>C (p.Leu8705Pro)
6g.152122596A>TCA366089028ESR1,SYNE1c.2768T>A (p.Leu923His)
c.26234T>A (p.Leu8745His)
c.26090T>A (p.Leu8697His)
c.1577T>A
c.1952T>A
c.1819T>A
c.2084T>A (n.2084T>A)
c.25019T>A (p.Leu8340His)
n.2982T>A
c.5010T>A (n.5010T>A)
n.9926T>A
c.4113T>A (n.4113T>A)
n.9818T>A
c.851-2670A>T (n.851-2670A>T)
n.2848T>A
n.6871T>A
c.2699T>A (p.Leu900His)
c.26381T>A (p.Leu8794His)
c.26369T>A (p.Leu8790His)
c.26360T>A (p.Leu8787His)
c.26339T>A (p.Leu8780His)
c.26330T>A (p.Leu8777His)
c.26324T>A (p.Leu8775His)
c.26312T>A (p.Leu8771His)
c.26309T>A (p.Leu8770His)
c.26270T>A (p.Leu8757His)
c.26255T>A (p.Leu8752His)
c.26240T>A (p.Leu8747His)
c.26228T>A (p.Leu8743His)
c.26225T>A (p.Leu8742His)
c.26222T>A (p.Leu8741His)
c.*45T>A (n.*45T>A)
c.26378T>A (p.Leu8793His)
c.26366T>A (p.Leu8789His)
c.26216T>A (p.Leu8739His)
c.24656T>A (p.Leu8219His)
c.24149T>A (p.Leu8050His)
c.19616T>A (p.Leu6539His)
c.26354T>A (p.Leu8785His)
c.26303T>A (p.Leu8768His)
c.26267T>A (p.Leu8756His)
c.26114T>A (p.Leu8705His)
6g.152122597G>ACA366089034ESR1,SYNE1c.2767C>T (p.Leu923Phe)
c.26233C>T (p.Leu8745Phe)
c.26089C>T (p.Leu8697Phe)
c.1576C>T
c.1951C>T
c.1818C>T
c.2083C>T (n.2083C>T)
c.25018C>T (p.Leu8340Phe)
n.2981C>T
c.5009C>T (n.5009C>T)
n.9925C>T
c.4112C>T (n.4112C>T)
n.9817C>T
c.851-2669G>A (n.851-2669G>A)
n.2847C>T
n.6870C>T
c.2698C>T (p.Leu900Phe)
c.26380C>T (p.Leu8794Phe)
c.26368C>T (p.Leu8790Phe)
c.26359C>T (p.Leu8787Phe)
c.26338C>T (p.Leu8780Phe)
c.26329C>T (p.Leu8777Phe)
c.26323C>T (p.Leu8775Phe)
c.26311C>T (p.Leu8771Phe)
c.26308C>T (p.Leu8770Phe)
c.26269C>T (p.Leu8757Phe)
c.26254C>T (p.Leu8752Phe)
c.26239C>T (p.Leu8747Phe)
c.26227C>T (p.Leu8743Phe)
c.26224C>T (p.Leu8742Phe)
c.26221C>T (p.Leu8741Phe)
c.*44C>T (n.*44C>T)
c.26377C>T (p.Leu8793Phe)
c.26365C>T (p.Leu8789Phe)
c.26215C>T (p.Leu8739Phe)
c.24655C>T (p.Leu8219Phe)
c.24148C>T (p.Leu8050Phe)
c.19615C>T (p.Leu6539Phe)
c.26353C>T (p.Leu8785Phe)
c.26302C>T (p.Leu8768Phe)
c.26266C>T (p.Leu8756Phe)
c.26113C>T (p.Leu8705Phe)
6g.152122597G>CCA366089032ESR1,SYNE1c.2767C>G (p.Leu923Val)
c.26233C>G (p.Leu8745Val)
c.26089C>G (p.Leu8697Val)
c.1576C>G
c.1951C>G
c.1818C>G
c.2083C>G (n.2083C>G)
c.25018C>G (p.Leu8340Val)
n.2981C>G
c.5009C>G (n.5009C>G)
n.9925C>G
c.4112C>G (n.4112C>G)
n.9817C>G
c.851-2669G>C (n.851-2669G>C)
n.2847C>G
n.6870C>G
c.2698C>G (p.Leu900Val)
c.26380C>G (p.Leu8794Val)
c.26368C>G (p.Leu8790Val)
c.26359C>G (p.Leu8787Val)
c.26338C>G (p.Leu8780Val)
c.26329C>G (p.Leu8777Val)
c.26323C>G (p.Leu8775Val)
c.26311C>G (p.Leu8771Val)
c.26308C>G (p.Leu8770Val)
c.26269C>G (p.Leu8757Val)
c.26254C>G (p.Leu8752Val)
c.26239C>G (p.Leu8747Val)
c.26227C>G (p.Leu8743Val)
c.26224C>G (p.Leu8742Val)
c.26221C>G (p.Leu8741Val)
c.*44C>G (n.*44C>G)
c.26377C>G (p.Leu8793Val)
c.26365C>G (p.Leu8789Val)
c.26215C>G (p.Leu8739Val)
c.24655C>G (p.Leu8219Val)
c.24148C>G (p.Leu8050Val)
c.19615C>G (p.Leu6539Val)
c.26353C>G (p.Leu8785Val)
c.26302C>G (p.Leu8768Val)
c.26266C>G (p.Leu8756Val)
c.26113C>G (p.Leu8705Val)
 gnomAD v4
6g.152122597G>TCA366089031ESR1,SYNE1c.2767C>A (p.Leu923Ile)
c.26233C>A (p.Leu8745Ile)
c.26089C>A (p.Leu8697Ile)
c.1576C>A
c.1951C>A
c.1818C>A
c.2083C>A (n.2083C>A)
c.25018C>A (p.Leu8340Ile)
n.2981C>A
c.5009C>A (n.5009C>A)
n.9925C>A
c.4112C>A (n.4112C>A)
n.9817C>A
c.851-2669G>T (n.851-2669G>T)
n.2847C>A
n.6870C>A
c.2698C>A (p.Leu900Ile)
c.26380C>A (p.Leu8794Ile)
c.26368C>A (p.Leu8790Ile)
c.26359C>A (p.Leu8787Ile)
c.26338C>A (p.Leu8780Ile)
c.26329C>A (p.Leu8777Ile)
c.26323C>A (p.Leu8775Ile)
c.26311C>A (p.Leu8771Ile)
c.26308C>A (p.Leu8770Ile)
c.26269C>A (p.Leu8757Ile)
c.26254C>A (p.Leu8752Ile)
c.26239C>A (p.Leu8747Ile)
c.26227C>A (p.Leu8743Ile)
c.26224C>A (p.Leu8742Ile)
c.26221C>A (p.Leu8741Ile)
c.*44C>A (n.*44C>A)
c.26377C>A (p.Leu8793Ile)
c.26365C>A (p.Leu8789Ile)
c.26215C>A (p.Leu8739Ile)
c.24655C>A (p.Leu8219Ile)
c.24148C>A (p.Leu8050Ile)
c.19615C>A (p.Leu6539Ile)
c.26353C>A (p.Leu8785Ile)
c.26302C>A (p.Leu8768Ile)
c.26266C>A (p.Leu8756Ile)
c.26113C>A (p.Leu8705Ile)
6g.152122598G>ACA452969621ESR1,SYNE1c.2766C>T (p.Val922=)
c.26232C>T (p.Val8744=)
c.26088C>T (p.Val8696=)
c.1575C>T
c.1950C>T
c.1817C>T
c.2082C>T (n.2082C>T)
c.25017C>T (p.Val8339=)
n.2980C>T
c.5008C>T (n.5008C>T)
n.9924C>T
c.4111C>T (n.4111C>T)
n.9816C>T
c.851-2668G>A (n.851-2668G>A)
n.2846C>T
n.6869C>T
c.2697C>T (p.Val899=)
c.26379C>T (p.Val8793=)
c.26367C>T (p.Val8789=)
c.26358C>T (p.Val8786=)
c.26337C>T (p.Val8779=)
c.26328C>T (p.Val8776=)
c.26322C>T (p.Val8774=)
c.26310C>T (p.Val8770=)
c.26307C>T (p.Val8769=)
c.26268C>T (p.Val8756=)
c.26253C>T (p.Val8751=)
c.26238C>T (p.Val8746=)
c.26226C>T (p.Val8742=)
c.26223C>T (p.Val8741=)
c.26220C>T (p.Val8740=)
c.*43C>T (n.*43C>T)
c.26376C>T (p.Val8792=)
c.26364C>T (p.Val8788=)
c.26214C>T (p.Val8738=)
c.24654C>T (p.Val8218=)
c.24147C>T (p.Val8049=)
c.19614C>T (p.Val6538=)
c.26352C>T (p.Val8784=)
c.26301C>T (p.Val8767=)
c.26265C>T (p.Val8755=)
c.26112C>T (p.Val8704=)
6g.152122598G>CCA452969623ESR1,SYNE1c.2766C>G (p.Val922=)
c.26232C>G (p.Val8744=)
c.26088C>G (p.Val8696=)
c.1575C>G
c.1950C>G
c.1817C>G
c.2082C>G (n.2082C>G)
c.25017C>G (p.Val8339=)
n.2980C>G
c.5008C>G (n.5008C>G)
n.9924C>G
c.4111C>G (n.4111C>G)
n.9816C>G
c.851-2668G>C (n.851-2668G>C)
n.2846C>G
n.6869C>G
c.2697C>G (p.Val899=)
c.26379C>G (p.Val8793=)
c.26367C>G (p.Val8789=)
c.26358C>G (p.Val8786=)
c.26337C>G (p.Val8779=)
c.26328C>G (p.Val8776=)
c.26322C>G (p.Val8774=)
c.26310C>G (p.Val8770=)
c.26307C>G (p.Val8769=)
c.26268C>G (p.Val8756=)
c.26253C>G (p.Val8751=)
c.26238C>G (p.Val8746=)
c.26226C>G (p.Val8742=)
c.26223C>G (p.Val8741=)
c.26220C>G (p.Val8740=)
c.*43C>G (n.*43C>G)
c.26376C>G (p.Val8792=)
c.26364C>G (p.Val8788=)
c.26214C>G (p.Val8738=)
c.24654C>G (p.Val8218=)
c.24147C>G (p.Val8049=)
c.19614C>G (p.Val6538=)
c.26352C>G (p.Val8784=)
c.26301C>G (p.Val8767=)
c.26265C>G (p.Val8755=)
c.26112C>G (p.Val8704=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122598G>TCA452969624ESR1,SYNE1c.2766C>A (p.Val922=)
c.26232C>A (p.Val8744=)
c.26088C>A (p.Val8696=)
c.1575C>A
c.1950C>A
c.1817C>A
c.2082C>A (n.2082C>A)
c.25017C>A (p.Val8339=)
n.2980C>A
c.5008C>A (n.5008C>A)
n.9924C>A
c.4111C>A (n.4111C>A)
n.9816C>A
c.851-2668G>T (n.851-2668G>T)
n.2846C>A
n.6869C>A
c.2697C>A (p.Val899=)
c.26379C>A (p.Val8793=)
c.26367C>A (p.Val8789=)
c.26358C>A (p.Val8786=)
c.26337C>A (p.Val8779=)
c.26328C>A (p.Val8776=)
c.26322C>A (p.Val8774=)
c.26310C>A (p.Val8770=)
c.26307C>A (p.Val8769=)
c.26268C>A (p.Val8756=)
c.26253C>A (p.Val8751=)
c.26238C>A (p.Val8746=)
c.26226C>A (p.Val8742=)
c.26223C>A (p.Val8741=)
c.26220C>A (p.Val8740=)
c.*43C>A (n.*43C>A)
c.26376C>A (p.Val8792=)
c.26364C>A (p.Val8788=)
c.26214C>A (p.Val8738=)
c.24654C>A (p.Val8218=)
c.24147C>A (p.Val8049=)
c.19614C>A (p.Val6538=)
c.26352C>A (p.Val8784=)
c.26301C>A (p.Val8767=)
c.26265C>A (p.Val8755=)
c.26112C>A (p.Val8704=)
 gnomAD v4
6g.152122599A>CCA366089036ESR1,SYNE1c.2765T>G (p.Val922Gly)
c.26231T>G (p.Val8744Gly)
c.26087T>G (p.Val8696Gly)
c.1574T>G
c.1949T>G
c.1816T>G
c.2081T>G (n.2081T>G)
c.25016T>G (p.Val8339Gly)
n.2979T>G
c.5007T>G (n.5007T>G)
n.9923T>G
c.4110T>G (n.4110T>G)
n.9815T>G
c.851-2667A>C (n.851-2667A>C)
n.2845T>G
n.6868T>G
c.2696T>G (p.Val899Gly)
c.26378T>G (p.Val8793Gly)
c.26366T>G (p.Val8789Gly)
c.26357T>G (p.Val8786Gly)
c.26336T>G (p.Val8779Gly)
c.26327T>G (p.Val8776Gly)
c.26321T>G (p.Val8774Gly)
c.26309T>G (p.Val8770Gly)
c.26306T>G (p.Val8769Gly)
c.26267T>G (p.Val8756Gly)
c.26252T>G (p.Val8751Gly)
c.26237T>G (p.Val8746Gly)
c.26225T>G (p.Val8742Gly)
c.26222T>G (p.Val8741Gly)
c.26219T>G (p.Val8740Gly)
c.*42T>G (n.*42T>G)
c.26375T>G (p.Val8792Gly)
c.26363T>G (p.Val8788Gly)
c.26213T>G (p.Val8738Gly)
c.24653T>G (p.Val8218Gly)
c.24146T>G (p.Val8049Gly)
c.19613T>G (p.Val6538Gly)
c.26351T>G (p.Val8784Gly)
c.26300T>G (p.Val8767Gly)
c.26264T>G (p.Val8755Gly)
c.26111T>G (p.Val8704Gly)
6g.152122599A>GCA366089038ESR1,SYNE1c.2765T>C (p.Val922Ala)
c.26231T>C (p.Val8744Ala)
c.26087T>C (p.Val8696Ala)
c.1574T>C
c.1949T>C
c.1816T>C
c.2081T>C (n.2081T>C)
c.25016T>C (p.Val8339Ala)
n.2979T>C
c.5007T>C (n.5007T>C)
n.9923T>C
c.4110T>C (n.4110T>C)
n.9815T>C
c.851-2667A>G (n.851-2667A>G)
n.2845T>C
n.6868T>C
c.2696T>C (p.Val899Ala)
c.26378T>C (p.Val8793Ala)
c.26366T>C (p.Val8789Ala)
c.26357T>C (p.Val8786Ala)
c.26336T>C (p.Val8779Ala)
c.26327T>C (p.Val8776Ala)
c.26321T>C (p.Val8774Ala)
c.26309T>C (p.Val8770Ala)
c.26306T>C (p.Val8769Ala)
c.26267T>C (p.Val8756Ala)
c.26252T>C (p.Val8751Ala)
c.26237T>C (p.Val8746Ala)
c.26225T>C (p.Val8742Ala)
c.26222T>C (p.Val8741Ala)
c.26219T>C (p.Val8740Ala)
c.*42T>C (n.*42T>C)
c.26375T>C (p.Val8792Ala)
c.26363T>C (p.Val8788Ala)
c.26213T>C (p.Val8738Ala)
c.24653T>C (p.Val8218Ala)
c.24146T>C (p.Val8049Ala)
c.19613T>C (p.Val6538Ala)
c.26351T>C (p.Val8784Ala)
c.26300T>C (p.Val8767Ala)
c.26264T>C (p.Val8755Ala)
c.26111T>C (p.Val8704Ala)
6g.152122599A>TCA366089040ESR1,SYNE1c.2765T>A (p.Val922Asp)
c.26231T>A (p.Val8744Asp)
c.26087T>A (p.Val8696Asp)
c.1574T>A
c.1949T>A
c.1816T>A
c.2081T>A (n.2081T>A)
c.25016T>A (p.Val8339Asp)
n.2979T>A
c.5007T>A (n.5007T>A)
n.9923T>A
c.4110T>A (n.4110T>A)
n.9815T>A
c.851-2667A>T (n.851-2667A>T)
n.2845T>A
n.6868T>A
c.2696T>A (p.Val899Asp)
c.26378T>A (p.Val8793Asp)
c.26366T>A (p.Val8789Asp)
c.26357T>A (p.Val8786Asp)
c.26336T>A (p.Val8779Asp)
c.26327T>A (p.Val8776Asp)
c.26321T>A (p.Val8774Asp)
c.26309T>A (p.Val8770Asp)
c.26306T>A (p.Val8769Asp)
c.26267T>A (p.Val8756Asp)
c.26252T>A (p.Val8751Asp)
c.26237T>A (p.Val8746Asp)
c.26225T>A (p.Val8742Asp)
c.26222T>A (p.Val8741Asp)
c.26219T>A (p.Val8740Asp)
c.*42T>A (n.*42T>A)
c.26375T>A (p.Val8792Asp)
c.26363T>A (p.Val8788Asp)
c.26213T>A (p.Val8738Asp)
c.24653T>A (p.Val8218Asp)
c.24146T>A (p.Val8049Asp)
c.19613T>A (p.Val6538Asp)
c.26351T>A (p.Val8784Asp)
c.26300T>A (p.Val8767Asp)
c.26264T>A (p.Val8755Asp)
c.26111T>A (p.Val8704Asp)
6g.152122600C>ACA366089042ESR1,SYNE1c.2764G>T (p.Val922Phe)
c.26230G>T (p.Val8744Phe)
c.26086G>T (p.Val8696Phe)
c.1573G>T
c.1948G>T
c.1815G>T
c.2080G>T (n.2080G>T)
c.25015G>T (p.Val8339Phe)
n.2978G>T
c.5006G>T (n.5006G>T)
n.9922G>T
c.4109G>T (n.4109G>T)
n.9814G>T
c.851-2666C>A (n.851-2666C>A)
n.2844G>T
n.6867G>T
c.2695G>T (p.Val899Phe)
c.26377G>T (p.Val8793Phe)
c.26365G>T (p.Val8789Phe)
c.26356G>T (p.Val8786Phe)
c.26335G>T (p.Val8779Phe)
c.26326G>T (p.Val8776Phe)
c.26320G>T (p.Val8774Phe)
c.26308G>T (p.Val8770Phe)
c.26305G>T (p.Val8769Phe)
c.26266G>T (p.Val8756Phe)
c.26251G>T (p.Val8751Phe)
c.26236G>T (p.Val8746Phe)
c.26224G>T (p.Val8742Phe)
c.26221G>T (p.Val8741Phe)
c.26218G>T (p.Val8740Phe)
c.*41G>T (n.*41G>T)
c.26374G>T (p.Val8792Phe)
c.26362G>T (p.Val8788Phe)
c.26212G>T (p.Val8738Phe)
c.24652G>T (p.Val8218Phe)
c.24145G>T (p.Val8049Phe)
c.19612G>T (p.Val6538Phe)
c.26350G>T (p.Val8784Phe)
c.26299G>T (p.Val8767Phe)
c.26263G>T (p.Val8755Phe)
c.26110G>T (p.Val8704Phe)
6g.152122600C>GCA366089044ESR1,SYNE1c.2764G>C (p.Val922Leu)
c.26230G>C (p.Val8744Leu)
c.26086G>C (p.Val8696Leu)
c.1573G>C
c.1948G>C
c.1815G>C
c.2080G>C (n.2080G>C)
c.25015G>C (p.Val8339Leu)
n.2978G>C
c.5006G>C (n.5006G>C)
n.9922G>C
c.4109G>C (n.4109G>C)
n.9814G>C
c.851-2666C>G (n.851-2666C>G)
n.2844G>C
n.6867G>C
c.2695G>C (p.Val899Leu)
c.26377G>C (p.Val8793Leu)
c.26365G>C (p.Val8789Leu)
c.26356G>C (p.Val8786Leu)
c.26335G>C (p.Val8779Leu)
c.26326G>C (p.Val8776Leu)
c.26320G>C (p.Val8774Leu)
c.26308G>C (p.Val8770Leu)
c.26305G>C (p.Val8769Leu)
c.26266G>C (p.Val8756Leu)
c.26251G>C (p.Val8751Leu)
c.26236G>C (p.Val8746Leu)
c.26224G>C (p.Val8742Leu)
c.26221G>C (p.Val8741Leu)
c.26218G>C (p.Val8740Leu)
c.*41G>C (n.*41G>C)
c.26374G>C (p.Val8792Leu)
c.26362G>C (p.Val8788Leu)
c.26212G>C (p.Val8738Leu)
c.24652G>C (p.Val8218Leu)
c.24145G>C (p.Val8049Leu)
c.19612G>C (p.Val6538Leu)
c.26350G>C (p.Val8784Leu)
c.26299G>C (p.Val8767Leu)
c.26263G>C (p.Val8755Leu)
c.26110G>C (p.Val8704Leu)
6g.152122600C>TCA366089046ESR1,SYNE1c.2764G>A (p.Val922Ile)
c.26230G>A (p.Val8744Ile)
c.26086G>A (p.Val8696Ile)
c.1573G>A
c.1948G>A
c.1815G>A
c.2080G>A (n.2080G>A)
c.25015G>A (p.Val8339Ile)
n.2978G>A
c.5006G>A (n.5006G>A)
n.9922G>A
c.4109G>A (n.4109G>A)
n.9814G>A
c.851-2666C>T (n.851-2666C>T)
n.2844G>A
n.6867G>A
c.2695G>A (p.Val899Ile)
c.26377G>A (p.Val8793Ile)
c.26365G>A (p.Val8789Ile)
c.26356G>A (p.Val8786Ile)
c.26335G>A (p.Val8779Ile)
c.26326G>A (p.Val8776Ile)
c.26320G>A (p.Val8774Ile)
c.26308G>A (p.Val8770Ile)
c.26305G>A (p.Val8769Ile)
c.26266G>A (p.Val8756Ile)
c.26251G>A (p.Val8751Ile)
c.26236G>A (p.Val8746Ile)
c.26224G>A (p.Val8742Ile)
c.26221G>A (p.Val8741Ile)
c.26218G>A (p.Val8740Ile)
c.*41G>A (n.*41G>A)
c.26374G>A (p.Val8792Ile)
c.26362G>A (p.Val8788Ile)
c.26212G>A (p.Val8738Ile)
c.24652G>A (p.Val8218Ile)
c.24145G>A (p.Val8049Ile)
c.19612G>A (p.Val6538Ile)
c.26350G>A (p.Val8784Ile)
c.26299G>A (p.Val8767Ile)
c.26263G>A (p.Val8755Ile)
c.26110G>A (p.Val8704Ile)
6g.152122601T>ACA366089048ESR1,SYNE1c.2763A>T (p.Arg921Ser)
c.26229A>T (p.Arg8743Ser)
c.26085A>T (p.Arg8695Ser)
c.1572A>T
c.1947A>T
c.1814A>T
c.2079A>T (n.2079A>T)
c.25014A>T (p.Arg8338Ser)
n.2977A>T
c.5005A>T (n.5005A>T)
n.9921A>T
c.4108A>T (n.4108A>T)
n.9813A>T
c.851-2665T>A (n.851-2665T>A)
n.2843A>T
n.6866A>T
c.2694A>T (p.Arg898Ser)
c.26376A>T (p.Arg8792Ser)
c.26364A>T (p.Arg8788Ser)
c.26355A>T (p.Arg8785Ser)
c.26334A>T (p.Arg8778Ser)
c.26325A>T (p.Arg8775Ser)
c.26319A>T (p.Arg8773Ser)
c.26307A>T (p.Arg8769Ser)
c.26304A>T (p.Arg8768Ser)
c.26265A>T (p.Arg8755Ser)
c.26250A>T (p.Arg8750Ser)
c.26235A>T (p.Arg8745Ser)
c.26223A>T (p.Arg8741Ser)
c.26220A>T (p.Arg8740Ser)
c.26217A>T (p.Arg8739Ser)
c.*40A>T (n.*40A>T)
c.26373A>T (p.Arg8791Ser)
c.26361A>T (p.Arg8787Ser)
c.26211A>T (p.Arg8737Ser)
c.24651A>T (p.Arg8217Ser)
c.24144A>T (p.Arg8048Ser)
c.19611A>T (p.Arg6537Ser)
c.26349A>T (p.Arg8783Ser)
c.26298A>T (p.Arg8766Ser)
c.26262A>T (p.Arg8754Ser)
c.26109A>T (p.Arg8703Ser)
6g.152122601T>CCA452969626ESR1,SYNE1c.2763A>G (p.Arg921=)
c.26229A>G (p.Arg8743=)
c.26085A>G (p.Arg8695=)
c.1572A>G
c.1947A>G
c.1814A>G
c.2079A>G (n.2079A>G)
c.25014A>G (p.Arg8338=)
n.2977A>G
c.5005A>G (n.5005A>G)
n.9921A>G
c.4108A>G (n.4108A>G)
n.9813A>G
c.851-2665T>C (n.851-2665T>C)
n.2843A>G
n.6866A>G
c.2694A>G (p.Arg898=)
c.26376A>G (p.Arg8792=)
c.26364A>G (p.Arg8788=)
c.26355A>G (p.Arg8785=)
c.26334A>G (p.Arg8778=)
c.26325A>G (p.Arg8775=)
c.26319A>G (p.Arg8773=)
c.26307A>G (p.Arg8769=)
c.26304A>G (p.Arg8768=)
c.26265A>G (p.Arg8755=)
c.26250A>G (p.Arg8750=)
c.26235A>G (p.Arg8745=)
c.26223A>G (p.Arg8741=)
c.26220A>G (p.Arg8740=)
c.26217A>G (p.Arg8739=)
c.*40A>G (n.*40A>G)
c.26373A>G (p.Arg8791=)
c.26361A>G (p.Arg8787=)
c.26211A>G (p.Arg8737=)
c.24651A>G (p.Arg8217=)
c.24144A>G (p.Arg8048=)
c.19611A>G (p.Arg6537=)
c.26349A>G (p.Arg8783=)
c.26298A>G (p.Arg8766=)
c.26262A>G (p.Arg8754=)
c.26109A>G (p.Arg8703=)
6g.152122601T>GCA366089049ESR1,SYNE1c.2763A>C (p.Arg921Ser)
c.26229A>C (p.Arg8743Ser)
c.26085A>C (p.Arg8695Ser)
c.1572A>C
c.1947A>C
c.1814A>C
c.2079A>C (n.2079A>C)
c.25014A>C (p.Arg8338Ser)
n.2977A>C
c.5005A>C (n.5005A>C)
n.9921A>C
c.4108A>C (n.4108A>C)
n.9813A>C
c.851-2665T>G (n.851-2665T>G)
n.2843A>C
n.6866A>C
c.2694A>C (p.Arg898Ser)
c.26376A>C (p.Arg8792Ser)
c.26364A>C (p.Arg8788Ser)
c.26355A>C (p.Arg8785Ser)
c.26334A>C (p.Arg8778Ser)
c.26325A>C (p.Arg8775Ser)
c.26319A>C (p.Arg8773Ser)
c.26307A>C (p.Arg8769Ser)
c.26304A>C (p.Arg8768Ser)
c.26265A>C (p.Arg8755Ser)
c.26250A>C (p.Arg8750Ser)
c.26235A>C (p.Arg8745Ser)
c.26223A>C (p.Arg8741Ser)
c.26220A>C (p.Arg8740Ser)
c.26217A>C (p.Arg8739Ser)
c.*40A>C (n.*40A>C)
c.26373A>C (p.Arg8791Ser)
c.26361A>C (p.Arg8787Ser)
c.26211A>C (p.Arg8737Ser)
c.24651A>C (p.Arg8217Ser)
c.24144A>C (p.Arg8048Ser)
c.19611A>C (p.Arg6537Ser)
c.26349A>C (p.Arg8783Ser)
c.26298A>C (p.Arg8766Ser)
c.26262A>C (p.Arg8754Ser)
c.26109A>C (p.Arg8703Ser)
6g.152122602C>ACA366089050ESR1,SYNE1c.2762G>T (p.Arg921Ile)
c.26228G>T (p.Arg8743Ile)
c.26084G>T (p.Arg8695Ile)
c.1571G>T
c.1946G>T
c.1813G>T
c.2078G>T (n.2078G>T)
c.25013G>T (p.Arg8338Ile)
n.2976G>T
c.5004G>T (n.5004G>T)
n.9920G>T
c.4107G>T (n.4107G>T)
n.9812G>T
c.851-2664C>A (n.851-2664C>A)
n.2842G>T
n.6865G>T
c.2693G>T (p.Arg898Ile)
c.26375G>T (p.Arg8792Ile)
c.26363G>T (p.Arg8788Ile)
c.26354G>T (p.Arg8785Ile)
c.26333G>T (p.Arg8778Ile)
c.26324G>T (p.Arg8775Ile)
c.26318G>T (p.Arg8773Ile)
c.26306G>T (p.Arg8769Ile)
c.26303G>T (p.Arg8768Ile)
c.26264G>T (p.Arg8755Ile)
c.26249G>T (p.Arg8750Ile)
c.26234G>T (p.Arg8745Ile)
c.26222G>T (p.Arg8741Ile)
c.26219G>T (p.Arg8740Ile)
c.26216G>T (p.Arg8739Ile)
c.*39G>T (n.*39G>T)
c.26372G>T (p.Arg8791Ile)
c.26360G>T (p.Arg8787Ile)
c.26210G>T (p.Arg8737Ile)
c.24650G>T (p.Arg8217Ile)
c.24143G>T (p.Arg8048Ile)
c.19610G>T (p.Arg6537Ile)
c.26348G>T (p.Arg8783Ile)
c.26297G>T (p.Arg8766Ile)
c.26261G>T (p.Arg8754Ile)
c.26108G>T (p.Arg8703Ile)
6g.152122602C>GCA366089052ESR1,SYNE1c.2762G>C (p.Arg921Thr)
c.26228G>C (p.Arg8743Thr)
c.26084G>C (p.Arg8695Thr)
c.1571G>C
c.1946G>C
c.1813G>C
c.2078G>C (n.2078G>C)
c.25013G>C (p.Arg8338Thr)
n.2976G>C
c.5004G>C (n.5004G>C)
n.9920G>C
c.4107G>C (n.4107G>C)
n.9812G>C
c.851-2664C>G (n.851-2664C>G)
n.2842G>C
n.6865G>C
c.2693G>C (p.Arg898Thr)
c.26375G>C (p.Arg8792Thr)
c.26363G>C (p.Arg8788Thr)
c.26354G>C (p.Arg8785Thr)
c.26333G>C (p.Arg8778Thr)
c.26324G>C (p.Arg8775Thr)
c.26318G>C (p.Arg8773Thr)
c.26306G>C (p.Arg8769Thr)
c.26303G>C (p.Arg8768Thr)
c.26264G>C (p.Arg8755Thr)
c.26249G>C (p.Arg8750Thr)
c.26234G>C (p.Arg8745Thr)
c.26222G>C (p.Arg8741Thr)
c.26219G>C (p.Arg8740Thr)
c.26216G>C (p.Arg8739Thr)
c.*39G>C (n.*39G>C)
c.26372G>C (p.Arg8791Thr)
c.26360G>C (p.Arg8787Thr)
c.26210G>C (p.Arg8737Thr)
c.24650G>C (p.Arg8217Thr)
c.24143G>C (p.Arg8048Thr)
c.19610G>C (p.Arg6537Thr)
c.26348G>C (p.Arg8783Thr)
c.26297G>C (p.Arg8766Thr)
c.26261G>C (p.Arg8754Thr)
c.26108G>C (p.Arg8703Thr)
6g.152122602C>TCA366089053ESR1,SYNE1c.2762G>A (p.Arg921Lys)
c.26228G>A (p.Arg8743Lys)
c.26084G>A (p.Arg8695Lys)
c.1571G>A
c.1946G>A
c.1813G>A
c.2078G>A (n.2078G>A)
c.25013G>A (p.Arg8338Lys)
n.2976G>A
c.5004G>A (n.5004G>A)
n.9920G>A
c.4107G>A (n.4107G>A)
n.9812G>A
c.851-2664C>T (n.851-2664C>T)
n.2842G>A
n.6865G>A
c.2693G>A (p.Arg898Lys)
c.26375G>A (p.Arg8792Lys)
c.26363G>A (p.Arg8788Lys)
c.26354G>A (p.Arg8785Lys)
c.26333G>A (p.Arg8778Lys)
c.26324G>A (p.Arg8775Lys)
c.26318G>A (p.Arg8773Lys)
c.26306G>A (p.Arg8769Lys)
c.26303G>A (p.Arg8768Lys)
c.26264G>A (p.Arg8755Lys)
c.26249G>A (p.Arg8750Lys)
c.26234G>A (p.Arg8745Lys)
c.26222G>A (p.Arg8741Lys)
c.26219G>A (p.Arg8740Lys)
c.26216G>A (p.Arg8739Lys)
c.*39G>A (n.*39G>A)
c.26372G>A (p.Arg8791Lys)
c.26360G>A (p.Arg8787Lys)
c.26210G>A (p.Arg8737Lys)
c.24650G>A (p.Arg8217Lys)
c.24143G>A (p.Arg8048Lys)
c.19610G>A (p.Arg6537Lys)
c.26348G>A (p.Arg8783Lys)
c.26297G>A (p.Arg8766Lys)
c.26261G>A (p.Arg8754Lys)
c.26108G>A (p.Arg8703Lys)
6g.152122603T>ACA366089055ESR1,SYNE1c.2761A>T (p.Arg921Ter)
c.26227A>T (p.Arg8743Ter)
c.26083A>T (p.Arg8695Ter)
c.1570A>T
c.1945A>T
c.1812A>T
c.2077A>T (n.2077A>T)
c.25012A>T (p.Arg8338Ter)
n.2975A>T
c.5003A>T (n.5003A>T)
n.9919A>T
c.4106A>T (n.4106A>T)
n.9811A>T
c.851-2663T>A (n.851-2663T>A)
n.2841A>T
n.6864A>T
c.2692A>T (p.Arg898Ter)
c.26374A>T (p.Arg8792Ter)
c.26362A>T (p.Arg8788Ter)
c.26353A>T (p.Arg8785Ter)
c.26332A>T (p.Arg8778Ter)
c.26323A>T (p.Arg8775Ter)
c.26317A>T (p.Arg8773Ter)
c.26305A>T (p.Arg8769Ter)
c.26302A>T (p.Arg8768Ter)
c.26263A>T (p.Arg8755Ter)
c.26248A>T (p.Arg8750Ter)
c.26233A>T (p.Arg8745Ter)
c.26221A>T (p.Arg8741Ter)
c.26218A>T (p.Arg8740Ter)
c.26215A>T (p.Arg8739Ter)
c.*38A>T (n.*38A>T)
c.26371A>T (p.Arg8791Ter)
c.26359A>T (p.Arg8787Ter)
c.26209A>T (p.Arg8737Ter)
c.24649A>T (p.Arg8217Ter)
c.24142A>T (p.Arg8048Ter)
c.19609A>T (p.Arg6537Ter)
c.26347A>T (p.Arg8783Ter)
c.26296A>T (p.Arg8766Ter)
c.26260A>T (p.Arg8754Ter)
c.26107A>T (p.Arg8703Ter)
6g.152122603T>CCA366089057ESR1,SYNE1c.2761A>G (p.Arg921Gly)
c.26227A>G (p.Arg8743Gly)
c.26083A>G (p.Arg8695Gly)
c.1570A>G
c.1945A>G
c.1812A>G
c.2077A>G (n.2077A>G)
c.25012A>G (p.Arg8338Gly)
n.2975A>G
c.5003A>G (n.5003A>G)
n.9919A>G
c.4106A>G (n.4106A>G)
n.9811A>G
c.851-2663T>C (n.851-2663T>C)
n.2841A>G
n.6864A>G
c.2692A>G (p.Arg898Gly)
c.26374A>G (p.Arg8792Gly)
c.26362A>G (p.Arg8788Gly)
c.26353A>G (p.Arg8785Gly)
c.26332A>G (p.Arg8778Gly)
c.26323A>G (p.Arg8775Gly)
c.26317A>G (p.Arg8773Gly)
c.26305A>G (p.Arg8769Gly)
c.26302A>G (p.Arg8768Gly)
c.26263A>G (p.Arg8755Gly)
c.26248A>G (p.Arg8750Gly)
c.26233A>G (p.Arg8745Gly)
c.26221A>G (p.Arg8741Gly)
c.26218A>G (p.Arg8740Gly)
c.26215A>G (p.Arg8739Gly)
c.*38A>G (n.*38A>G)
c.26371A>G (p.Arg8791Gly)
c.26359A>G (p.Arg8787Gly)
c.26209A>G (p.Arg8737Gly)
c.24649A>G (p.Arg8217Gly)
c.24142A>G (p.Arg8048Gly)
c.19609A>G (p.Arg6537Gly)
c.26347A>G (p.Arg8783Gly)
c.26296A>G (p.Arg8766Gly)
c.26260A>G (p.Arg8754Gly)
c.26107A>G (p.Arg8703Gly)
6g.152122603T>GCA452969629ESR1,SYNE1c.2761A>C (p.Arg921=)
c.26227A>C (p.Arg8743=)
c.26083A>C (p.Arg8695=)
c.1570A>C
c.1945A>C
c.1812A>C
c.2077A>C (n.2077A>C)
c.25012A>C (p.Arg8338=)
n.2975A>C
c.5003A>C (n.5003A>C)
n.9919A>C
c.4106A>C (n.4106A>C)
n.9811A>C
c.851-2663T>G (n.851-2663T>G)
n.2841A>C
n.6864A>C
c.2692A>C (p.Arg898=)
c.26374A>C (p.Arg8792=)
c.26362A>C (p.Arg8788=)
c.26353A>C (p.Arg8785=)
c.26332A>C (p.Arg8778=)
c.26323A>C (p.Arg8775=)
c.26317A>C (p.Arg8773=)
c.26305A>C (p.Arg8769=)
c.26302A>C (p.Arg8768=)
c.26263A>C (p.Arg8755=)
c.26248A>C (p.Arg8750=)
c.26233A>C (p.Arg8745=)
c.26221A>C (p.Arg8741=)
c.26218A>C (p.Arg8740=)
c.26215A>C (p.Arg8739=)
c.*38A>C (n.*38A>C)
c.26371A>C (p.Arg8791=)
c.26359A>C (p.Arg8787=)
c.26209A>C (p.Arg8737=)
c.24649A>C (p.Arg8217=)
c.24142A>C (p.Arg8048=)
c.19609A>C (p.Arg6537=)
c.26347A>C (p.Arg8783=)
c.26296A>C (p.Arg8766=)
c.26260A>C (p.Arg8754=)
c.26107A>C (p.Arg8703=)
6g.152122604G>ACA452969630ESR1,SYNE1c.2760C>T (p.Phe920=)
c.26226C>T (p.Phe8742=)
c.26082C>T (p.Phe8694=)
c.1569C>T
c.1944C>T
c.1811C>T
c.2076C>T (n.2076C>T)
c.25011C>T (p.Phe8337=)
n.2974C>T
c.5002C>T (n.5002C>T)
n.9918C>T
c.4105C>T (n.4105C>T)
n.9810C>T
c.851-2662G>A (n.851-2662G>A)
n.2840C>T
n.6863C>T
c.2691C>T (p.Phe897=)
c.26373C>T (p.Phe8791=)
c.26361C>T (p.Phe8787=)
c.26352C>T (p.Phe8784=)
c.26331C>T (p.Phe8777=)
c.26322C>T (p.Phe8774=)
c.26316C>T (p.Phe8772=)
c.26304C>T (p.Phe8768=)
c.26301C>T (p.Phe8767=)
c.26262C>T (p.Phe8754=)
c.26247C>T (p.Phe8749=)
c.26232C>T (p.Phe8744=)
c.26220C>T (p.Phe8740=)
c.26217C>T (p.Phe8739=)
c.26214C>T (p.Phe8738=)
c.*37C>T (n.*37C>T)
c.26370C>T (p.Phe8790=)
c.26358C>T (p.Phe8786=)
c.26208C>T (p.Phe8736=)
c.24648C>T (p.Phe8216=)
c.24141C>T (p.Phe8047=)
c.19608C>T (p.Phe6536=)
c.26346C>T (p.Phe8782=)
c.26295C>T (p.Phe8765=)
c.26259C>T (p.Phe8753=)
c.26106C>T (p.Phe8702=)
6g.152122604G>CCA366089061ESR1,SYNE1c.2760C>G (p.Phe920Leu)
c.26226C>G (p.Phe8742Leu)
c.26082C>G (p.Phe8694Leu)
c.1569C>G
c.1944C>G
c.1811C>G
c.2076C>G (n.2076C>G)
c.25011C>G (p.Phe8337Leu)
n.2974C>G
c.5002C>G (n.5002C>G)
n.9918C>G
c.4105C>G (n.4105C>G)
n.9810C>G
c.851-2662G>C (n.851-2662G>C)
n.2840C>G
n.6863C>G
c.2691C>G (p.Phe897Leu)
c.26373C>G (p.Phe8791Leu)
c.26361C>G (p.Phe8787Leu)
c.26352C>G (p.Phe8784Leu)
c.26331C>G (p.Phe8777Leu)
c.26322C>G (p.Phe8774Leu)
c.26316C>G (p.Phe8772Leu)
c.26304C>G (p.Phe8768Leu)
c.26301C>G (p.Phe8767Leu)
c.26262C>G (p.Phe8754Leu)
c.26247C>G (p.Phe8749Leu)
c.26232C>G (p.Phe8744Leu)
c.26220C>G (p.Phe8740Leu)
c.26217C>G (p.Phe8739Leu)
c.26214C>G (p.Phe8738Leu)
c.*37C>G (n.*37C>G)
c.26370C>G (p.Phe8790Leu)
c.26358C>G (p.Phe8786Leu)
c.26208C>G (p.Phe8736Leu)
c.24648C>G (p.Phe8216Leu)
c.24141C>G (p.Phe8047Leu)
c.19608C>G (p.Phe6536Leu)
c.26346C>G (p.Phe8782Leu)
c.26295C>G (p.Phe8765Leu)
c.26259C>G (p.Phe8753Leu)
c.26106C>G (p.Phe8702Leu)
6g.152122604G>TCA366089059ESR1,SYNE1c.2760C>A (p.Phe920Leu)
c.26226C>A (p.Phe8742Leu)
c.26082C>A (p.Phe8694Leu)
c.1569C>A
c.1944C>A
c.1811C>A
c.2076C>A (n.2076C>A)
c.25011C>A (p.Phe8337Leu)
n.2974C>A
c.5002C>A (n.5002C>A)
n.9918C>A
c.4105C>A (n.4105C>A)
n.9810C>A
c.851-2662G>T (n.851-2662G>T)
n.2840C>A
n.6863C>A
c.2691C>A (p.Phe897Leu)
c.26373C>A (p.Phe8791Leu)
c.26361C>A (p.Phe8787Leu)
c.26352C>A (p.Phe8784Leu)
c.26331C>A (p.Phe8777Leu)
c.26322C>A (p.Phe8774Leu)
c.26316C>A (p.Phe8772Leu)
c.26304C>A (p.Phe8768Leu)
c.26301C>A (p.Phe8767Leu)
c.26262C>A (p.Phe8754Leu)
c.26247C>A (p.Phe8749Leu)
c.26232C>A (p.Phe8744Leu)
c.26220C>A (p.Phe8740Leu)
c.26217C>A (p.Phe8739Leu)
c.26214C>A (p.Phe8738Leu)
c.*37C>A (n.*37C>A)
c.26370C>A (p.Phe8790Leu)
c.26358C>A (p.Phe8786Leu)
c.26208C>A (p.Phe8736Leu)
c.24648C>A (p.Phe8216Leu)
c.24141C>A (p.Phe8047Leu)
c.19608C>A (p.Phe6536Leu)
c.26346C>A (p.Phe8782Leu)
c.26295C>A (p.Phe8765Leu)
c.26259C>A (p.Phe8753Leu)
c.26106C>A (p.Phe8702Leu)
6g.152122605A>CCA366089064ESR1,SYNE1c.2759T>G (p.Phe920Cys)
c.26225T>G (p.Phe8742Cys)
c.26081T>G (p.Phe8694Cys)
c.1568T>G
c.1943T>G
c.1810T>G
c.2075T>G (n.2075T>G)
c.25010T>G (p.Phe8337Cys)
n.2973T>G
c.5001T>G (n.5001T>G)
n.9917T>G
c.4104T>G (n.4104T>G)
n.9809T>G
c.851-2661A>C (n.851-2661A>C)
n.2839T>G
n.6862T>G
n.3003T>G
c.2690T>G (p.Phe897Cys)
c.26372T>G (p.Phe8791Cys)
c.26360T>G (p.Phe8787Cys)
c.26351T>G (p.Phe8784Cys)
c.26330T>G (p.Phe8777Cys)
c.26321T>G (p.Phe8774Cys)
c.26315T>G (p.Phe8772Cys)
c.26303T>G (p.Phe8768Cys)
c.26300T>G (p.Phe8767Cys)
c.26261T>G (p.Phe8754Cys)
c.26246T>G (p.Phe8749Cys)
c.26231T>G (p.Phe8744Cys)
c.26219T>G (p.Phe8740Cys)
c.26216T>G (p.Phe8739Cys)
c.26213T>G (p.Phe8738Cys)
c.*36T>G (n.*36T>G)
c.26369T>G (p.Phe8790Cys)
c.26357T>G (p.Phe8786Cys)
c.26207T>G (p.Phe8736Cys)
c.24647T>G (p.Phe8216Cys)
c.24140T>G (p.Phe8047Cys)
c.19607T>G (p.Phe6536Cys)
c.26345T>G (p.Phe8782Cys)
c.26294T>G (p.Phe8765Cys)
c.26258T>G (p.Phe8753Cys)
c.26105T>G (p.Phe8702Cys)
6g.152122605A>GCA366089065ESR1,SYNE1c.2759T>C (p.Phe920Ser)
c.26225T>C (p.Phe8742Ser)
c.26081T>C (p.Phe8694Ser)
c.1568T>C
c.1943T>C
c.1810T>C
c.2075T>C (n.2075T>C)
c.25010T>C (p.Phe8337Ser)
n.2973T>C
c.5001T>C (n.5001T>C)
n.9917T>C
c.4104T>C (n.4104T>C)
n.9809T>C
c.851-2661A>G (n.851-2661A>G)
n.2839T>C
n.6862T>C
n.3003T>C
c.2690T>C (p.Phe897Ser)
c.26372T>C (p.Phe8791Ser)
c.26360T>C (p.Phe8787Ser)
c.26351T>C (p.Phe8784Ser)
c.26330T>C (p.Phe8777Ser)
c.26321T>C (p.Phe8774Ser)
c.26315T>C (p.Phe8772Ser)
c.26303T>C (p.Phe8768Ser)
c.26300T>C (p.Phe8767Ser)
c.26261T>C (p.Phe8754Ser)
c.26246T>C (p.Phe8749Ser)
c.26231T>C (p.Phe8744Ser)
c.26219T>C (p.Phe8740Ser)
c.26216T>C (p.Phe8739Ser)
c.26213T>C (p.Phe8738Ser)
c.*36T>C (n.*36T>C)
c.26369T>C (p.Phe8790Ser)
c.26357T>C (p.Phe8786Ser)
c.26207T>C (p.Phe8736Ser)
c.24647T>C (p.Phe8216Ser)
c.24140T>C (p.Phe8047Ser)
c.19607T>C (p.Phe6536Ser)
c.26345T>C (p.Phe8782Ser)
c.26294T>C (p.Phe8765Ser)
c.26258T>C (p.Phe8753Ser)
c.26105T>C (p.Phe8702Ser)
6g.152122605A>TCA366089066ESR1,SYNE1c.2759T>A (p.Phe920Tyr)
c.26225T>A (p.Phe8742Tyr)
c.26081T>A (p.Phe8694Tyr)
c.1568T>A
c.1943T>A
c.1810T>A
c.2075T>A (n.2075T>A)
c.25010T>A (p.Phe8337Tyr)
n.2973T>A
c.5001T>A (n.5001T>A)
n.9917T>A
c.4104T>A (n.4104T>A)
n.9809T>A
c.851-2661A>T (n.851-2661A>T)
n.2839T>A
n.6862T>A
n.3003T>A
c.2690T>A (p.Phe897Tyr)
c.26372T>A (p.Phe8791Tyr)
c.26360T>A (p.Phe8787Tyr)
c.26351T>A (p.Phe8784Tyr)
c.26330T>A (p.Phe8777Tyr)
c.26321T>A (p.Phe8774Tyr)
c.26315T>A (p.Phe8772Tyr)
c.26303T>A (p.Phe8768Tyr)
c.26300T>A (p.Phe8767Tyr)
c.26261T>A (p.Phe8754Tyr)
c.26246T>A (p.Phe8749Tyr)
c.26231T>A (p.Phe8744Tyr)
c.26219T>A (p.Phe8740Tyr)
c.26216T>A (p.Phe8739Tyr)
c.26213T>A (p.Phe8738Tyr)
c.*36T>A (n.*36T>A)
c.26369T>A (p.Phe8790Tyr)
c.26357T>A (p.Phe8786Tyr)
c.26207T>A (p.Phe8736Tyr)
c.24647T>A (p.Phe8216Tyr)
c.24140T>A (p.Phe8047Tyr)
c.19607T>A (p.Phe6536Tyr)
c.26345T>A (p.Phe8782Tyr)
c.26294T>A (p.Phe8765Tyr)
c.26258T>A (p.Phe8753Tyr)
c.26105T>A (p.Phe8702Tyr)
6g.152122606A>CCA366089069ESR1,SYNE1c.2758T>G (p.Phe920Val)
c.26224T>G (p.Phe8742Val)
c.26080T>G (p.Phe8694Val)
c.1567T>G
c.1942T>G
c.1809T>G
c.2074T>G (n.2074T>G)
c.25009T>G (p.Phe8337Val)
n.2972T>G
c.5000T>G (n.5000T>G)
n.9916T>G
c.4103T>G (n.4103T>G)
n.9808T>G
c.851-2660A>C (n.851-2660A>C)
n.2838T>G
n.6861T>G
n.3002T>G
c.2689T>G (p.Phe897Val)
c.26371T>G (p.Phe8791Val)
c.26359T>G (p.Phe8787Val)
c.26350T>G (p.Phe8784Val)
c.26329T>G (p.Phe8777Val)
c.26320T>G (p.Phe8774Val)
c.26314T>G (p.Phe8772Val)
c.26302T>G (p.Phe8768Val)
c.26299T>G (p.Phe8767Val)
c.26260T>G (p.Phe8754Val)
c.26245T>G (p.Phe8749Val)
c.26230T>G (p.Phe8744Val)
c.26218T>G (p.Phe8740Val)
c.26215T>G (p.Phe8739Val)
c.26212T>G (p.Phe8738Val)
c.*35T>G (n.*35T>G)
c.26368T>G (p.Phe8790Val)
c.26356T>G (p.Phe8786Val)
c.26206T>G (p.Phe8736Val)
c.24646T>G (p.Phe8216Val)
c.24139T>G (p.Phe8047Val)
c.19606T>G (p.Phe6536Val)
c.26344T>G (p.Phe8782Val)
c.26293T>G (p.Phe8765Val)
c.26257T>G (p.Phe8753Val)
c.26104T>G (p.Phe8702Val)
6g.152122606A>GCA366089071ESR1,SYNE1c.2758T>C (p.Phe920Leu)
c.26224T>C (p.Phe8742Leu)
c.26080T>C (p.Phe8694Leu)
c.1567T>C
c.1942T>C
c.1809T>C
c.2074T>C (n.2074T>C)
c.25009T>C (p.Phe8337Leu)
n.2972T>C
c.5000T>C (n.5000T>C)
n.9916T>C
c.4103T>C (n.4103T>C)
n.9808T>C
c.851-2660A>G (n.851-2660A>G)
n.2838T>C
n.6861T>C
n.3002T>C
c.2689T>C (p.Phe897Leu)
c.26371T>C (p.Phe8791Leu)
c.26359T>C (p.Phe8787Leu)
c.26350T>C (p.Phe8784Leu)
c.26329T>C (p.Phe8777Leu)
c.26320T>C (p.Phe8774Leu)
c.26314T>C (p.Phe8772Leu)
c.26302T>C (p.Phe8768Leu)
c.26299T>C (p.Phe8767Leu)
c.26260T>C (p.Phe8754Leu)
c.26245T>C (p.Phe8749Leu)
c.26230T>C (p.Phe8744Leu)
c.26218T>C (p.Phe8740Leu)
c.26215T>C (p.Phe8739Leu)
c.26212T>C (p.Phe8738Leu)
c.*35T>C (n.*35T>C)
c.26368T>C (p.Phe8790Leu)
c.26356T>C (p.Phe8786Leu)
c.26206T>C (p.Phe8736Leu)
c.24646T>C (p.Phe8216Leu)
c.24139T>C (p.Phe8047Leu)
c.19606T>C (p.Phe6536Leu)
c.26344T>C (p.Phe8782Leu)
c.26293T>C (p.Phe8765Leu)
c.26257T>C (p.Phe8753Leu)
c.26104T>C (p.Phe8702Leu)
6g.152122606A>TCA366089073ESR1,SYNE1c.2758T>A (p.Phe920Ile)
c.26224T>A (p.Phe8742Ile)
c.26080T>A (p.Phe8694Ile)
c.1567T>A
c.1942T>A
c.1809T>A
c.2074T>A (n.2074T>A)
c.25009T>A (p.Phe8337Ile)
n.2972T>A
c.5000T>A (n.5000T>A)
n.9916T>A
c.4103T>A (n.4103T>A)
n.9808T>A
c.851-2660A>T (n.851-2660A>T)
n.2838T>A
n.6861T>A
n.3002T>A
c.2689T>A (p.Phe897Ile)
c.26371T>A (p.Phe8791Ile)
c.26359T>A (p.Phe8787Ile)
c.26350T>A (p.Phe8784Ile)
c.26329T>A (p.Phe8777Ile)
c.26320T>A (p.Phe8774Ile)
c.26314T>A (p.Phe8772Ile)
c.26302T>A (p.Phe8768Ile)
c.26299T>A (p.Phe8767Ile)
c.26260T>A (p.Phe8754Ile)
c.26245T>A (p.Phe8749Ile)
c.26230T>A (p.Phe8744Ile)
c.26218T>A (p.Phe8740Ile)
c.26215T>A (p.Phe8739Ile)
c.26212T>A (p.Phe8738Ile)
c.*35T>A (n.*35T>A)
c.26368T>A (p.Phe8790Ile)
c.26356T>A (p.Phe8786Ile)
c.26206T>A (p.Phe8736Ile)
c.24646T>A (p.Phe8216Ile)
c.24139T>A (p.Phe8047Ile)
c.19606T>A (p.Phe6536Ile)
c.26344T>A (p.Phe8782Ile)
c.26293T>A (p.Phe8765Ile)
c.26257T>A (p.Phe8753Ile)
c.26104T>A (p.Phe8702Ile)
6g.152122607C>ACA452969635ESR1,SYNE1c.2757G>T (p.Leu919=)
c.26223G>T (p.Leu8741=)
c.26079G>T (p.Leu8693=)
c.1566G>T
c.1941G>T
c.1808G>T
c.2073G>T (n.2073G>T)
c.25008G>T (p.Leu8336=)
n.2971G>T
c.4999G>T (n.4999G>T)
n.9915G>T
c.4102G>T (n.4102G>T)
n.9807G>T
c.851-2659C>A (n.851-2659C>A)
n.2837G>T
n.6860G>T
n.3001G>T
c.2688G>T (p.Leu896=)
c.26370G>T (p.Leu8790=)
c.26358G>T (p.Leu8786=)
c.26349G>T (p.Leu8783=)
c.26328G>T (p.Leu8776=)
c.26319G>T (p.Leu8773=)
c.26313G>T (p.Leu8771=)
c.26301G>T (p.Leu8767=)
c.26298G>T (p.Leu8766=)
c.26259G>T (p.Leu8753=)
c.26244G>T (p.Leu8748=)
c.26229G>T (p.Leu8743=)
c.26217G>T (p.Leu8739=)
c.26214G>T (p.Leu8738=)
c.26211G>T (p.Leu8737=)
c.*34G>T (n.*34G>T)
c.26367G>T (p.Leu8789=)
c.26355G>T (p.Leu8785=)
c.26205G>T (p.Leu8735=)
c.24645G>T (p.Leu8215=)
c.24138G>T (p.Leu8046=)
c.19605G>T (p.Leu6535=)
c.26343G>T (p.Leu8781=)
c.26292G>T (p.Leu8764=)
c.26256G>T (p.Leu8752=)
c.26103G>T (p.Leu8701=)
 dbSNP gnomAD v3 gnomAD v4
6g.152122607C=CA1673189064ESR1,SYNE1c.2757G= (p.Leu919=)
c.26223G= (p.Leu8741=)
c.26079G= (p.Leu8693=)
c.1566G=
c.1941G=
c.1808G=
c.2073G= (n.2073G=)
c.25008G= (p.Leu8336=)
n.2971G=
c.4999G= (n.4999G=)
n.9915G=
c.4102G= (n.4102G=)
n.9807G=
c.851-2659C= (n.851-2659C=)
n.2837G=
n.6860G=
n.3001G=
c.2688G= (p.Leu896=)
c.26370G= (p.Leu8790=)
c.26358G= (p.Leu8786=)
c.26349G= (p.Leu8783=)
c.26328G= (p.Leu8776=)
c.26319G= (p.Leu8773=)
c.26313G= (p.Leu8771=)
c.26301G= (p.Leu8767=)
c.26298G= (p.Leu8766=)
c.26259G= (p.Leu8753=)
c.26244G= (p.Leu8748=)
c.26229G= (p.Leu8743=)
c.26217G= (p.Leu8739=)
c.26214G= (p.Leu8738=)
c.26211G= (p.Leu8737=)
c.*34G= (n.*34G=)
c.26367G= (p.Leu8789=)
c.26355G= (p.Leu8785=)
c.26205G= (p.Leu8735=)
c.24645G= (p.Leu8215=)
c.24138G= (p.Leu8046=)
c.19605G= (p.Leu6535=)
c.26343G= (p.Leu8781=)
c.26292G= (p.Leu8764=)
c.26256G= (p.Leu8752=)
c.26103G= (p.Leu8701=)
6g.152122607C>GCA452969636ESR1,SYNE1c.2757G>C (p.Leu919=)
c.26223G>C (p.Leu8741=)
c.26079G>C (p.Leu8693=)
c.1566G>C
c.1941G>C
c.1808G>C
c.2073G>C (n.2073G>C)
c.25008G>C (p.Leu8336=)
n.2971G>C
c.4999G>C (n.4999G>C)
n.9915G>C
c.4102G>C (n.4102G>C)
n.9807G>C
c.851-2659C>G (n.851-2659C>G)
n.2837G>C
n.6860G>C
n.3001G>C
c.2688G>C (p.Leu896=)
c.26370G>C (p.Leu8790=)
c.26358G>C (p.Leu8786=)
c.26349G>C (p.Leu8783=)
c.26328G>C (p.Leu8776=)
c.26319G>C (p.Leu8773=)
c.26313G>C (p.Leu8771=)
c.26301G>C (p.Leu8767=)
c.26298G>C (p.Leu8766=)
c.26259G>C (p.Leu8753=)
c.26244G>C (p.Leu8748=)
c.26229G>C (p.Leu8743=)
c.26217G>C (p.Leu8739=)
c.26214G>C (p.Leu8738=)
c.26211G>C (p.Leu8737=)
c.*34G>C (n.*34G>C)
c.26367G>C (p.Leu8789=)
c.26355G>C (p.Leu8785=)
c.26205G>C (p.Leu8735=)
c.24645G>C (p.Leu8215=)
c.24138G>C (p.Leu8046=)
c.19605G>C (p.Leu6535=)
c.26343G>C (p.Leu8781=)
c.26292G>C (p.Leu8764=)
c.26256G>C (p.Leu8752=)
c.26103G>C (p.Leu8701=)
6g.152122607C>TCA452969637ESR1,SYNE1c.2757G>A (p.Leu919=)
c.26223G>A (p.Leu8741=)
c.26079G>A (p.Leu8693=)
c.1566G>A
c.1941G>A
c.1808G>A
c.2073G>A (n.2073G>A)
c.25008G>A (p.Leu8336=)
n.2971G>A
c.4999G>A (n.4999G>A)
n.9915G>A
c.4102G>A (n.4102G>A)
n.9807G>A
c.851-2659C>T (n.851-2659C>T)
n.2837G>A
n.6860G>A
n.3001G>A
c.2688G>A (p.Leu896=)
c.26370G>A (p.Leu8790=)
c.26358G>A (p.Leu8786=)
c.26349G>A (p.Leu8783=)
c.26328G>A (p.Leu8776=)
c.26319G>A (p.Leu8773=)
c.26313G>A (p.Leu8771=)
c.26301G>A (p.Leu8767=)
c.26298G>A (p.Leu8766=)
c.26259G>A (p.Leu8753=)
c.26244G>A (p.Leu8748=)
c.26229G>A (p.Leu8743=)
c.26217G>A (p.Leu8739=)
c.26214G>A (p.Leu8738=)
c.26211G>A (p.Leu8737=)
c.*34G>A (n.*34G>A)
c.26367G>A (p.Leu8789=)
c.26355G>A (p.Leu8785=)
c.26205G>A (p.Leu8735=)
c.24645G>A (p.Leu8215=)
c.24138G>A (p.Leu8046=)
c.19605G>A (p.Leu6535=)
c.26343G>A (p.Leu8781=)
c.26292G>A (p.Leu8764=)
c.26256G>A (p.Leu8752=)
c.26103G>A (p.Leu8701=)
 dbSNP gnomAD v4
6g.152122608A>CCA366089077ESR1,SYNE1c.2756T>G (p.Leu919Arg)
c.26222T>G (p.Leu8741Arg)
c.26078T>G (p.Leu8693Arg)
c.1565T>G
c.1940T>G
c.1807T>G
c.2072T>G (n.2072T>G)
c.25007T>G (p.Leu8336Arg)
n.2970T>G
c.4998T>G (n.4998T>G)
n.9914T>G
c.4101T>G (n.4101T>G)
n.9806T>G
c.851-2658A>C (n.851-2658A>C)
n.2836T>G
n.6859T>G
n.3000T>G
c.2687T>G (p.Leu896Arg)
c.26369T>G (p.Leu8790Arg)
c.26357T>G (p.Leu8786Arg)
c.26348T>G (p.Leu8783Arg)
c.26327T>G (p.Leu8776Arg)
c.26318T>G (p.Leu8773Arg)
c.26312T>G (p.Leu8771Arg)
c.26300T>G (p.Leu8767Arg)
c.26297T>G (p.Leu8766Arg)
c.26258T>G (p.Leu8753Arg)
c.26243T>G (p.Leu8748Arg)
c.26228T>G (p.Leu8743Arg)
c.26216T>G (p.Leu8739Arg)
c.26213T>G (p.Leu8738Arg)
c.26210T>G (p.Leu8737Arg)
c.*33T>G (n.*33T>G)
c.26366T>G (p.Leu8789Arg)
c.26354T>G (p.Leu8785Arg)
c.26204T>G (p.Leu8735Arg)
c.24644T>G (p.Leu8215Arg)
c.24137T>G (p.Leu8046Arg)
c.19604T>G (p.Leu6535Arg)
c.26342T>G (p.Leu8781Arg)
c.26291T>G (p.Leu8764Arg)
c.26255T>G (p.Leu8752Arg)
c.26102T>G (p.Leu8701Arg)
6g.152122608A>GCA366089079ESR1,SYNE1c.2756T>C (p.Leu919Pro)
c.26222T>C (p.Leu8741Pro)
c.26078T>C (p.Leu8693Pro)
c.1565T>C
c.1940T>C
c.1807T>C
c.2072T>C (n.2072T>C)
c.25007T>C (p.Leu8336Pro)
n.2970T>C
c.4998T>C (n.4998T>C)
n.9914T>C
c.4101T>C (n.4101T>C)
n.9806T>C
c.851-2658A>G (n.851-2658A>G)
n.2836T>C
n.6859T>C
n.3000T>C
c.2687T>C (p.Leu896Pro)
c.26369T>C (p.Leu8790Pro)
c.26357T>C (p.Leu8786Pro)
c.26348T>C (p.Leu8783Pro)
c.26327T>C (p.Leu8776Pro)
c.26318T>C (p.Leu8773Pro)
c.26312T>C (p.Leu8771Pro)
c.26300T>C (p.Leu8767Pro)
c.26297T>C (p.Leu8766Pro)
c.26258T>C (p.Leu8753Pro)
c.26243T>C (p.Leu8748Pro)
c.26228T>C (p.Leu8743Pro)
c.26216T>C (p.Leu8739Pro)
c.26213T>C (p.Leu8738Pro)
c.26210T>C (p.Leu8737Pro)
c.*33T>C (n.*33T>C)
c.26366T>C (p.Leu8789Pro)
c.26354T>C (p.Leu8785Pro)
c.26204T>C (p.Leu8735Pro)
c.24644T>C (p.Leu8215Pro)
c.24137T>C (p.Leu8046Pro)
c.19604T>C (p.Leu6535Pro)
c.26342T>C (p.Leu8781Pro)
c.26291T>C (p.Leu8764Pro)
c.26255T>C (p.Leu8752Pro)
c.26102T>C (p.Leu8701Pro)
6g.152122608A>TCA366089081ESR1,SYNE1c.2756T>A (p.Leu919Gln)
c.26222T>A (p.Leu8741Gln)
c.26078T>A (p.Leu8693Gln)
c.1565T>A
c.1940T>A
c.1807T>A
c.2072T>A (n.2072T>A)
c.25007T>A (p.Leu8336Gln)
n.2970T>A
c.4998T>A (n.4998T>A)
n.9914T>A
c.4101T>A (n.4101T>A)
n.9806T>A
c.851-2658A>T (n.851-2658A>T)
n.2836T>A
n.6859T>A
n.3000T>A
c.2687T>A (p.Leu896Gln)
c.26369T>A (p.Leu8790Gln)
c.26357T>A (p.Leu8786Gln)
c.26348T>A (p.Leu8783Gln)
c.26327T>A (p.Leu8776Gln)
c.26318T>A (p.Leu8773Gln)
c.26312T>A (p.Leu8771Gln)
c.26300T>A (p.Leu8767Gln)
c.26297T>A (p.Leu8766Gln)
c.26258T>A (p.Leu8753Gln)
c.26243T>A (p.Leu8748Gln)
c.26228T>A (p.Leu8743Gln)
c.26216T>A (p.Leu8739Gln)
c.26213T>A (p.Leu8738Gln)
c.26210T>A (p.Leu8737Gln)
c.*33T>A (n.*33T>A)
c.26366T>A (p.Leu8789Gln)
c.26354T>A (p.Leu8785Gln)
c.26204T>A (p.Leu8735Gln)
c.24644T>A (p.Leu8215Gln)
c.24137T>A (p.Leu8046Gln)
c.19604T>A (p.Leu6535Gln)
c.26342T>A (p.Leu8781Gln)
c.26291T>A (p.Leu8764Gln)
c.26255T>A (p.Leu8752Gln)
c.26102T>A (p.Leu8701Gln)
6g.152122609G>ACA452969638ESR1,SYNE1c.2755C>T (p.Leu919=)
c.26221C>T (p.Leu8741=)
c.26077C>T (p.Leu8693=)
c.1564C>T
c.1939C>T
c.1806C>T
c.2071C>T (n.2071C>T)
c.25006C>T (p.Leu8336=)
n.2969C>T
c.4997C>T (n.4997C>T)
n.9913C>T
c.4100C>T (n.4100C>T)
n.9805C>T
c.851-2657G>A (n.851-2657G>A)
n.2835C>T
n.6858C>T
n.2999C>T
c.2686C>T (p.Leu896=)
c.26368C>T (p.Leu8790=)
c.26356C>T (p.Leu8786=)
c.26347C>T (p.Leu8783=)
c.26326C>T (p.Leu8776=)
c.26317C>T (p.Leu8773=)
c.26311C>T (p.Leu8771=)
c.26299C>T (p.Leu8767=)
c.26296C>T (p.Leu8766=)
c.26257C>T (p.Leu8753=)
c.26242C>T (p.Leu8748=)
c.26227C>T (p.Leu8743=)
c.26215C>T (p.Leu8739=)
c.26212C>T (p.Leu8738=)
c.26209C>T (p.Leu8737=)
c.*32C>T (n.*32C>T)
c.26365C>T (p.Leu8789=)
c.26353C>T (p.Leu8785=)
c.26203C>T (p.Leu8735=)
c.24643C>T (p.Leu8215=)
c.24136C>T (p.Leu8046=)
c.19603C>T (p.Leu6535=)
c.26341C>T (p.Leu8781=)
c.26290C>T (p.Leu8764=)
c.26254C>T (p.Leu8752=)
c.26101C>T (p.Leu8701=)
6g.152122609G>CCA366089082ESR1,SYNE1c.2755C>G (p.Leu919Val)
c.26221C>G (p.Leu8741Val)
c.26077C>G (p.Leu8693Val)
c.1564C>G
c.1939C>G
c.1806C>G
c.2071C>G (n.2071C>G)
c.25006C>G (p.Leu8336Val)
n.2969C>G
c.4997C>G (n.4997C>G)
n.9913C>G
c.4100C>G (n.4100C>G)
n.9805C>G
c.851-2657G>C (n.851-2657G>C)
n.2835C>G
n.6858C>G
n.2999C>G
c.2686C>G (p.Leu896Val)
c.26368C>G (p.Leu8790Val)
c.26356C>G (p.Leu8786Val)
c.26347C>G (p.Leu8783Val)
c.26326C>G (p.Leu8776Val)
c.26317C>G (p.Leu8773Val)
c.26311C>G (p.Leu8771Val)
c.26299C>G (p.Leu8767Val)
c.26296C>G (p.Leu8766Val)
c.26257C>G (p.Leu8753Val)
c.26242C>G (p.Leu8748Val)
c.26227C>G (p.Leu8743Val)
c.26215C>G (p.Leu8739Val)
c.26212C>G (p.Leu8738Val)
c.26209C>G (p.Leu8737Val)
c.*32C>G (n.*32C>G)
c.26365C>G (p.Leu8789Val)
c.26353C>G (p.Leu8785Val)
c.26203C>G (p.Leu8735Val)
c.24643C>G (p.Leu8215Val)
c.24136C>G (p.Leu8046Val)
c.19603C>G (p.Leu6535Val)
c.26341C>G (p.Leu8781Val)
c.26290C>G (p.Leu8764Val)
c.26254C>G (p.Leu8752Val)
c.26101C>G (p.Leu8701Val)
6g.152122609G=CA1673189071ESR1,SYNE1c.2755C= (p.Leu919=)
c.26221C= (p.Leu8741=)
c.26077C= (p.Leu8693=)
c.1564C=
c.1939C=
c.1806C=
c.2071C= (n.2071C=)
c.25006C= (p.Leu8336=)
n.2969C=
c.4997C= (n.4997C=)
n.9913C=
c.4100C= (n.4100C=)
n.9805C=
c.851-2657G= (n.851-2657G=)
n.2835C=
n.6858C=
n.2999C=
c.2686C= (p.Leu896=)
c.26368C= (p.Leu8790=)
c.26356C= (p.Leu8786=)
c.26347C= (p.Leu8783=)
c.26326C= (p.Leu8776=)
c.26317C= (p.Leu8773=)
c.26311C= (p.Leu8771=)
c.26299C= (p.Leu8767=)
c.26296C= (p.Leu8766=)
c.26257C= (p.Leu8753=)
c.26242C= (p.Leu8748=)
c.26227C= (p.Leu8743=)
c.26215C= (p.Leu8739=)
c.26212C= (p.Leu8738=)
c.26209C= (p.Leu8737=)
c.*32C= (n.*32C=)
c.26365C= (p.Leu8789=)
c.26353C= (p.Leu8785=)
c.26203C= (p.Leu8735=)
c.24643C= (p.Leu8215=)
c.24136C= (p.Leu8046=)
c.19603C= (p.Leu6535=)
c.26341C= (p.Leu8781=)
c.26290C= (p.Leu8764=)
c.26254C= (p.Leu8752=)
c.26101C= (p.Leu8701=)
6g.152122609G>TCA155452ESR1,SYNE1c.2755C>A (p.Leu919Met)
c.26221C>A (p.Leu8741Met)
c.26077C>A (p.Leu8693Met)
c.1564C>A
c.1939C>A
c.1806C>A
c.2071C>A (n.2071C>A)
c.25006C>A (p.Leu8336Met)
n.2969C>A
c.4997C>A (n.4997C>A)
n.9913C>A
c.4100C>A (n.4100C>A)
n.9805C>A
c.851-2657G>T (n.851-2657G>T)
n.2835C>A
n.6858C>A
n.2999C>A
c.2686C>A (p.Leu896Met)
c.26368C>A (p.Leu8790Met)
c.26356C>A (p.Leu8786Met)
c.26347C>A (p.Leu8783Met)
c.26326C>A (p.Leu8776Met)
c.26317C>A (p.Leu8773Met)
c.26311C>A (p.Leu8771Met)
c.26299C>A (p.Leu8767Met)
c.26296C>A (p.Leu8766Met)
c.26257C>A (p.Leu8753Met)
c.26242C>A (p.Leu8748Met)
c.26227C>A (p.Leu8743Met)
c.26215C>A (p.Leu8739Met)
c.26212C>A (p.Leu8738Met)
c.26209C>A (p.Leu8737Met)
c.*32C>A (n.*32C>A)
c.26365C>A (p.Leu8789Met)
c.26353C>A (p.Leu8785Met)
c.26203C>A (p.Leu8735Met)
c.24643C>A (p.Leu8215Met)
c.24136C>A (p.Leu8046Met)
c.19603C>A (p.Leu6535Met)
c.26341C>A (p.Leu8781Met)
c.26290C>A (p.Leu8764Met)
c.26254C>A (p.Leu8752Met)
c.26101C>A (p.Leu8701Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122610G>ACA452969639ESR1,SYNE1c.2754C>T (p.Phe918=)
c.26220C>T (p.Phe8740=)
c.26076C>T (p.Phe8692=)
c.1563C>T
c.1938C>T
c.1805C>T
c.2070C>T (n.2070C>T)
c.25005C>T (p.Phe8335=)
n.2968C>T
c.4996C>T (n.4996C>T)
n.9912C>T
c.4099C>T (n.4099C>T)
n.9804C>T
c.851-2656G>A (n.851-2656G>A)
n.2834C>T
n.6857C>T
n.2998C>T
c.2685C>T (p.Phe895=)
c.26367C>T (p.Phe8789=)
c.26355C>T (p.Phe8785=)
c.26346C>T (p.Phe8782=)
c.26325C>T (p.Phe8775=)
c.26316C>T (p.Phe8772=)
c.26310C>T (p.Phe8770=)
c.26298C>T (p.Phe8766=)
c.26295C>T (p.Phe8765=)
c.26256C>T (p.Phe8752=)
c.26241C>T (p.Phe8747=)
c.26226C>T (p.Phe8742=)
c.26214C>T (p.Phe8738=)
c.26211C>T (p.Phe8737=)
c.26208C>T (p.Phe8736=)
c.*31C>T (n.*31C>T)
c.26364C>T (p.Phe8788=)
c.26352C>T (p.Phe8784=)
c.26202C>T (p.Phe8734=)
c.24642C>T (p.Phe8214=)
c.24135C>T (p.Phe8045=)
c.19602C>T (p.Phe6534=)
c.26340C>T (p.Phe8780=)
c.26289C>T (p.Phe8763=)
c.26253C>T (p.Phe8751=)
c.26100C>T (p.Phe8700=)
 COSMIC COSMIC COSMIC
6g.152122610G>CCA366089086ESR1,SYNE1c.2754C>G (p.Phe918Leu)
c.26220C>G (p.Phe8740Leu)
c.26076C>G (p.Phe8692Leu)
c.1563C>G
c.1938C>G
c.1805C>G
c.2070C>G (n.2070C>G)
c.25005C>G (p.Phe8335Leu)
n.2968C>G
c.4996C>G (n.4996C>G)
n.9912C>G
c.4099C>G (n.4099C>G)
n.9804C>G
c.851-2656G>C (n.851-2656G>C)
n.2834C>G
n.6857C>G
n.2998C>G
c.2685C>G (p.Phe895Leu)
c.26367C>G (p.Phe8789Leu)
c.26355C>G (p.Phe8785Leu)
c.26346C>G (p.Phe8782Leu)
c.26325C>G (p.Phe8775Leu)
c.26316C>G (p.Phe8772Leu)
c.26310C>G (p.Phe8770Leu)
c.26298C>G (p.Phe8766Leu)
c.26295C>G (p.Phe8765Leu)
c.26256C>G (p.Phe8752Leu)
c.26241C>G (p.Phe8747Leu)
c.26226C>G (p.Phe8742Leu)
c.26214C>G (p.Phe8738Leu)
c.26211C>G (p.Phe8737Leu)
c.26208C>G (p.Phe8736Leu)
c.*31C>G (n.*31C>G)
c.26364C>G (p.Phe8788Leu)
c.26352C>G (p.Phe8784Leu)
c.26202C>G (p.Phe8734Leu)
c.24642C>G (p.Phe8214Leu)
c.24135C>G (p.Phe8045Leu)
c.19602C>G (p.Phe6534Leu)
c.26340C>G (p.Phe8780Leu)
c.26289C>G (p.Phe8763Leu)
c.26253C>G (p.Phe8751Leu)
c.26100C>G (p.Phe8700Leu)
6g.152122610G>TCA366089088ESR1,SYNE1c.2754C>A (p.Phe918Leu)
c.26220C>A (p.Phe8740Leu)
c.26076C>A (p.Phe8692Leu)
c.1563C>A
c.1938C>A
c.1805C>A
c.2070C>A (n.2070C>A)
c.25005C>A (p.Phe8335Leu)
n.2968C>A
c.4996C>A (n.4996C>A)
n.9912C>A
c.4099C>A (n.4099C>A)
n.9804C>A
c.851-2656G>T (n.851-2656G>T)
n.2834C>A
n.6857C>A
n.2998C>A
c.2685C>A (p.Phe895Leu)
c.26367C>A (p.Phe8789Leu)
c.26355C>A (p.Phe8785Leu)
c.26346C>A (p.Phe8782Leu)
c.26325C>A (p.Phe8775Leu)
c.26316C>A (p.Phe8772Leu)
c.26310C>A (p.Phe8770Leu)
c.26298C>A (p.Phe8766Leu)
c.26295C>A (p.Phe8765Leu)
c.26256C>A (p.Phe8752Leu)
c.26241C>A (p.Phe8747Leu)
c.26226C>A (p.Phe8742Leu)
c.26214C>A (p.Phe8738Leu)
c.26211C>A (p.Phe8737Leu)
c.26208C>A (p.Phe8736Leu)
c.*31C>A (n.*31C>A)
c.26364C>A (p.Phe8788Leu)
c.26352C>A (p.Phe8784Leu)
c.26202C>A (p.Phe8734Leu)
c.24642C>A (p.Phe8214Leu)
c.24135C>A (p.Phe8045Leu)
c.19602C>A (p.Phe6534Leu)
c.26340C>A (p.Phe8780Leu)
c.26289C>A (p.Phe8763Leu)
c.26253C>A (p.Phe8751Leu)
c.26100C>A (p.Phe8700Leu)
6g.152122611A>CCA366089092ESR1,SYNE1c.2753T>G (p.Phe918Cys)
c.26219T>G (p.Phe8740Cys)
c.26075T>G (p.Phe8692Cys)
c.1562T>G
c.1937T>G
c.1804T>G
c.2069T>G (n.2069T>G)
c.25004T>G (p.Phe8335Cys)
n.2967T>G
c.4995T>G (n.4995T>G)
n.9911T>G
c.4098T>G (n.4098T>G)
n.9803T>G
c.851-2655A>C (n.851-2655A>C)
n.2833T>G
n.6856T>G
n.2997T>G
c.2684T>G (p.Phe895Cys)
c.26366T>G (p.Phe8789Cys)
c.26354T>G (p.Phe8785Cys)
c.26345T>G (p.Phe8782Cys)
c.26324T>G (p.Phe8775Cys)
c.26315T>G (p.Phe8772Cys)
c.26309T>G (p.Phe8770Cys)
c.26297T>G (p.Phe8766Cys)
c.26294T>G (p.Phe8765Cys)
c.26255T>G (p.Phe8752Cys)
c.26240T>G (p.Phe8747Cys)
c.26225T>G (p.Phe8742Cys)
c.26213T>G (p.Phe8738Cys)
c.26210T>G (p.Phe8737Cys)
c.26207T>G (p.Phe8736Cys)
c.*30T>G (n.*30T>G)
c.26363T>G (p.Phe8788Cys)
c.26351T>G (p.Phe8784Cys)
c.26201T>G (p.Phe8734Cys)
c.24641T>G (p.Phe8214Cys)
c.24134T>G (p.Phe8045Cys)
c.19601T>G (p.Phe6534Cys)
c.26339T>G (p.Phe8780Cys)
c.26288T>G (p.Phe8763Cys)
c.26252T>G (p.Phe8751Cys)
c.26099T>G (p.Phe8700Cys)
6g.152122611A>GCA366089094ESR1,SYNE1c.2753T>C (p.Phe918Ser)
c.26219T>C (p.Phe8740Ser)
c.26075T>C (p.Phe8692Ser)
c.1562T>C
c.1937T>C
c.1804T>C
c.2069T>C (n.2069T>C)
c.25004T>C (p.Phe8335Ser)
n.2967T>C
c.4995T>C (n.4995T>C)
n.9911T>C
c.4098T>C (n.4098T>C)
n.9803T>C
c.851-2655A>G (n.851-2655A>G)
n.2833T>C
n.6856T>C
n.2997T>C
c.2684T>C (p.Phe895Ser)
c.26366T>C (p.Phe8789Ser)
c.26354T>C (p.Phe8785Ser)
c.26345T>C (p.Phe8782Ser)
c.26324T>C (p.Phe8775Ser)
c.26315T>C (p.Phe8772Ser)
c.26309T>C (p.Phe8770Ser)
c.26297T>C (p.Phe8766Ser)
c.26294T>C (p.Phe8765Ser)
c.26255T>C (p.Phe8752Ser)
c.26240T>C (p.Phe8747Ser)
c.26225T>C (p.Phe8742Ser)
c.26213T>C (p.Phe8738Ser)
c.26210T>C (p.Phe8737Ser)
c.26207T>C (p.Phe8736Ser)
c.*30T>C (n.*30T>C)
c.26363T>C (p.Phe8788Ser)
c.26351T>C (p.Phe8784Ser)
c.26201T>C (p.Phe8734Ser)
c.24641T>C (p.Phe8214Ser)
c.24134T>C (p.Phe8045Ser)
c.19601T>C (p.Phe6534Ser)
c.26339T>C (p.Phe8780Ser)
c.26288T>C (p.Phe8763Ser)
c.26252T>C (p.Phe8751Ser)
c.26099T>C (p.Phe8700Ser)
6g.152122611A>TCA366089091ESR1,SYNE1c.2753T>A (p.Phe918Tyr)
c.26219T>A (p.Phe8740Tyr)
c.26075T>A (p.Phe8692Tyr)
c.1562T>A
c.1937T>A
c.1804T>A
c.2069T>A (n.2069T>A)
c.25004T>A (p.Phe8335Tyr)
n.2967T>A
c.4995T>A (n.4995T>A)
n.9911T>A
c.4098T>A (n.4098T>A)
n.9803T>A
c.851-2655A>T (n.851-2655A>T)
n.2833T>A
n.6856T>A
n.2997T>A
c.2684T>A (p.Phe895Tyr)
c.26366T>A (p.Phe8789Tyr)
c.26354T>A (p.Phe8785Tyr)
c.26345T>A (p.Phe8782Tyr)
c.26324T>A (p.Phe8775Tyr)
c.26315T>A (p.Phe8772Tyr)
c.26309T>A (p.Phe8770Tyr)
c.26297T>A (p.Phe8766Tyr)
c.26294T>A (p.Phe8765Tyr)
c.26255T>A (p.Phe8752Tyr)
c.26240T>A (p.Phe8747Tyr)
c.26225T>A (p.Phe8742Tyr)
c.26213T>A (p.Phe8738Tyr)
c.26210T>A (p.Phe8737Tyr)
c.26207T>A (p.Phe8736Tyr)
c.*30T>A (n.*30T>A)
c.26363T>A (p.Phe8788Tyr)
c.26351T>A (p.Phe8784Tyr)
c.26201T>A (p.Phe8734Tyr)
c.24641T>A (p.Phe8214Tyr)
c.24134T>A (p.Phe8045Tyr)
c.19601T>A (p.Phe6534Tyr)
c.26339T>A (p.Phe8780Tyr)
c.26288T>A (p.Phe8763Tyr)
c.26252T>A (p.Phe8751Tyr)
c.26099T>A (p.Phe8700Tyr)
6g.152122612A>CCA366089098ESR1,SYNE1c.2752T>G (p.Phe918Val)
c.26218T>G (p.Phe8740Val)
c.26074T>G (p.Phe8692Val)
c.1561T>G
c.1936T>G
c.1803T>G
c.2068T>G (n.2068T>G)
c.25003T>G (p.Phe8335Val)
n.2966T>G
c.4994T>G (n.4994T>G)
n.9910T>G
c.4097T>G (n.4097T>G)
n.9802T>G
c.851-2654A>C (n.851-2654A>C)
n.2832T>G
n.6855T>G
n.2996T>G
c.2683T>G (p.Phe895Val)
c.26365T>G (p.Phe8789Val)
c.26353T>G (p.Phe8785Val)
c.26344T>G (p.Phe8782Val)
c.26323T>G (p.Phe8775Val)
c.26314T>G (p.Phe8772Val)
c.26308T>G (p.Phe8770Val)
c.26296T>G (p.Phe8766Val)
c.26293T>G (p.Phe8765Val)
c.26254T>G (p.Phe8752Val)
c.26239T>G (p.Phe8747Val)
c.26224T>G (p.Phe8742Val)
c.26212T>G (p.Phe8738Val)
c.26209T>G (p.Phe8737Val)
c.26206T>G (p.Phe8736Val)
c.*29T>G (n.*29T>G)
c.26362T>G (p.Phe8788Val)
c.26350T>G (p.Phe8784Val)
c.26200T>G (p.Phe8734Val)
c.24640T>G (p.Phe8214Val)
c.24133T>G (p.Phe8045Val)
c.19600T>G (p.Phe6534Val)
c.26338T>G (p.Phe8780Val)
c.26287T>G (p.Phe8763Val)
c.26251T>G (p.Phe8751Val)
c.26098T>G (p.Phe8700Val)
6g.152122612A>GCA366089096ESR1,SYNE1c.2752T>C (p.Phe918Leu)
c.26218T>C (p.Phe8740Leu)
c.26074T>C (p.Phe8692Leu)
c.1561T>C
c.1936T>C
c.1803T>C
c.2068T>C (n.2068T>C)
c.25003T>C (p.Phe8335Leu)
n.2966T>C
c.4994T>C (n.4994T>C)
n.9910T>C
c.4097T>C (n.4097T>C)
n.9802T>C
c.851-2654A>G (n.851-2654A>G)
n.2832T>C
n.6855T>C
n.2996T>C
c.2683T>C (p.Phe895Leu)
c.26365T>C (p.Phe8789Leu)
c.26353T>C (p.Phe8785Leu)
c.26344T>C (p.Phe8782Leu)
c.26323T>C (p.Phe8775Leu)
c.26314T>C (p.Phe8772Leu)
c.26308T>C (p.Phe8770Leu)
c.26296T>C (p.Phe8766Leu)
c.26293T>C (p.Phe8765Leu)
c.26254T>C (p.Phe8752Leu)
c.26239T>C (p.Phe8747Leu)
c.26224T>C (p.Phe8742Leu)
c.26212T>C (p.Phe8738Leu)
c.26209T>C (p.Phe8737Leu)
c.26206T>C (p.Phe8736Leu)
c.*29T>C (n.*29T>C)
c.26362T>C (p.Phe8788Leu)
c.26350T>C (p.Phe8784Leu)
c.26200T>C (p.Phe8734Leu)
c.24640T>C (p.Phe8214Leu)
c.24133T>C (p.Phe8045Leu)
c.19600T>C (p.Phe6534Leu)
c.26338T>C (p.Phe8780Leu)
c.26287T>C (p.Phe8763Leu)
c.26251T>C (p.Phe8751Leu)
c.26098T>C (p.Phe8700Leu)
6g.152122612A>TCA366089099ESR1,SYNE1c.2752T>A (p.Phe918Ile)
c.26218T>A (p.Phe8740Ile)
c.26074T>A (p.Phe8692Ile)
c.1561T>A
c.1936T>A
c.1803T>A
c.2068T>A (n.2068T>A)
c.25003T>A (p.Phe8335Ile)
n.2966T>A
c.4994T>A (n.4994T>A)
n.9910T>A
c.4097T>A (n.4097T>A)
n.9802T>A
c.851-2654A>T (n.851-2654A>T)
n.2832T>A
n.6855T>A
n.2996T>A
c.2683T>A (p.Phe895Ile)
c.26365T>A (p.Phe8789Ile)
c.26353T>A (p.Phe8785Ile)
c.26344T>A (p.Phe8782Ile)
c.26323T>A (p.Phe8775Ile)
c.26314T>A (p.Phe8772Ile)
c.26308T>A (p.Phe8770Ile)
c.26296T>A (p.Phe8766Ile)
c.26293T>A (p.Phe8765Ile)
c.26254T>A (p.Phe8752Ile)
c.26239T>A (p.Phe8747Ile)
c.26224T>A (p.Phe8742Ile)
c.26212T>A (p.Phe8738Ile)
c.26209T>A (p.Phe8737Ile)
c.26206T>A (p.Phe8736Ile)
c.*29T>A (n.*29T>A)
c.26362T>A (p.Phe8788Ile)
c.26350T>A (p.Phe8784Ile)
c.26200T>A (p.Phe8734Ile)
c.24640T>A (p.Phe8214Ile)
c.24133T>A (p.Phe8045Ile)
c.19600T>A (p.Phe6534Ile)
c.26338T>A (p.Phe8780Ile)
c.26287T>A (p.Phe8763Ile)
c.26251T>A (p.Phe8751Ile)
c.26098T>A (p.Phe8700Ile)
6g.152122613G>ACA452969641ESR1,SYNE1c.2751C>T (p.Gly917=)
c.26217C>T (p.Gly8739=)
c.26073C>T (p.Gly8691=)
c.1560C>T
c.1935C>T
c.1802C>T
c.2067C>T (n.2067C>T)
c.25002C>T (p.Gly8334=)
n.2965C>T
c.4993C>T (n.4993C>T)
n.9909C>T
c.4096C>T (n.4096C>T)
n.9801C>T
c.851-2653G>A (n.851-2653G>A)
n.2831C>T
n.6854C>T
n.2995C>T
c.2682C>T (p.Gly894=)
c.26364C>T (p.Gly8788=)
c.26352C>T (p.Gly8784=)
c.26343C>T (p.Gly8781=)
c.26322C>T (p.Gly8774=)
c.26313C>T (p.Gly8771=)
c.26307C>T (p.Gly8769=)
c.26295C>T (p.Gly8765=)
c.26292C>T (p.Gly8764=)
c.26253C>T (p.Gly8751=)
c.26238C>T (p.Gly8746=)
c.26223C>T (p.Gly8741=)
c.26211C>T (p.Gly8737=)
c.26208C>T (p.Gly8736=)
c.26205C>T (p.Gly8735=)
c.*28C>T (n.*28C>T)
c.26361C>T (p.Gly8787=)
c.26349C>T (p.Gly8783=)
c.26199C>T (p.Gly8733=)
c.24639C>T (p.Gly8213=)
c.24132C>T (p.Gly8044=)
c.19599C>T (p.Gly6533=)
c.26337C>T (p.Gly8779=)
c.26286C>T (p.Gly8762=)
c.26250C>T (p.Gly8750=)
c.26097C>T (p.Gly8699=)
6g.152122613G>CCA452969642ESR1,SYNE1c.2751C>G (p.Gly917=)
c.26217C>G (p.Gly8739=)
c.26073C>G (p.Gly8691=)
c.1560C>G
c.1935C>G
c.1802C>G
c.2067C>G (n.2067C>G)
c.25002C>G (p.Gly8334=)
n.2965C>G
c.4993C>G (n.4993C>G)
n.9909C>G
c.4096C>G (n.4096C>G)
n.9801C>G
c.851-2653G>C (n.851-2653G>C)
n.2831C>G
n.6854C>G
n.2995C>G
c.2682C>G (p.Gly894=)
c.26364C>G (p.Gly8788=)
c.26352C>G (p.Gly8784=)
c.26343C>G (p.Gly8781=)
c.26322C>G (p.Gly8774=)
c.26313C>G (p.Gly8771=)
c.26307C>G (p.Gly8769=)
c.26295C>G (p.Gly8765=)
c.26292C>G (p.Gly8764=)
c.26253C>G (p.Gly8751=)
c.26238C>G (p.Gly8746=)
c.26223C>G (p.Gly8741=)
c.26211C>G (p.Gly8737=)
c.26208C>G (p.Gly8736=)
c.26205C>G (p.Gly8735=)
c.*28C>G (n.*28C>G)
c.26361C>G (p.Gly8787=)
c.26349C>G (p.Gly8783=)
c.26199C>G (p.Gly8733=)
c.24639C>G (p.Gly8213=)
c.24132C>G (p.Gly8044=)
c.19599C>G (p.Gly6533=)
c.26337C>G (p.Gly8779=)
c.26286C>G (p.Gly8762=)
c.26250C>G (p.Gly8750=)
c.26097C>G (p.Gly8699=)
6g.152122613G>TCA452969643ESR1,SYNE1c.2751C>A (p.Gly917=)
c.26217C>A (p.Gly8739=)
c.26073C>A (p.Gly8691=)
c.1560C>A
c.1935C>A
c.1802C>A
c.2067C>A (n.2067C>A)
c.25002C>A (p.Gly8334=)
n.2965C>A
c.4993C>A (n.4993C>A)
n.9909C>A
c.4096C>A (n.4096C>A)
n.9801C>A
c.851-2653G>T (n.851-2653G>T)
n.2831C>A
n.6854C>A
n.2995C>A
c.2682C>A (p.Gly894=)
c.26364C>A (p.Gly8788=)
c.26352C>A (p.Gly8784=)
c.26343C>A (p.Gly8781=)
c.26322C>A (p.Gly8774=)
c.26313C>A (p.Gly8771=)
c.26307C>A (p.Gly8769=)
c.26295C>A (p.Gly8765=)
c.26292C>A (p.Gly8764=)
c.26253C>A (p.Gly8751=)
c.26238C>A (p.Gly8746=)
c.26223C>A (p.Gly8741=)
c.26211C>A (p.Gly8737=)
c.26208C>A (p.Gly8736=)
c.26205C>A (p.Gly8735=)
c.*28C>A (n.*28C>A)
c.26361C>A (p.Gly8787=)
c.26349C>A (p.Gly8783=)
c.26199C>A (p.Gly8733=)
c.24639C>A (p.Gly8213=)
c.24132C>A (p.Gly8044=)
c.19599C>A (p.Gly6533=)
c.26337C>A (p.Gly8779=)
c.26286C>A (p.Gly8762=)
c.26250C>A (p.Gly8750=)
c.26097C>A (p.Gly8699=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122614C>ACA366089101ESR1,SYNE1c.2750G>T (p.Gly917Val)
c.26216G>T (p.Gly8739Val)
c.26072G>T (p.Gly8691Val)
c.1559G>T
c.1934G>T
c.1801G>T
c.2066G>T (n.2066G>T)
c.25001G>T (p.Gly8334Val)
n.2964G>T
c.4992G>T (n.4992G>T)
n.9908G>T
c.4095G>T (n.4095G>T)
n.9800G>T
c.851-2652C>A (n.851-2652C>A)
n.2830G>T
n.6853G>T
n.2994G>T
c.2681G>T (p.Gly894Val)
c.26363G>T (p.Gly8788Val)
c.26351G>T (p.Gly8784Val)
c.26342G>T (p.Gly8781Val)
c.26321G>T (p.Gly8774Val)
c.26312G>T (p.Gly8771Val)
c.26306G>T (p.Gly8769Val)
c.26294G>T (p.Gly8765Val)
c.26291G>T (p.Gly8764Val)
c.26252G>T (p.Gly8751Val)
c.26237G>T (p.Gly8746Val)
c.26222G>T (p.Gly8741Val)
c.26210G>T (p.Gly8737Val)
c.26207G>T (p.Gly8736Val)
c.26204G>T (p.Gly8735Val)
c.*27G>T (n.*27G>T)
c.26360G>T (p.Gly8787Val)
c.26348G>T (p.Gly8783Val)
c.26198G>T (p.Gly8733Val)
c.24638G>T (p.Gly8213Val)
c.24131G>T (p.Gly8044Val)
c.19598G>T (p.Gly6533Val)
c.26336G>T (p.Gly8779Val)
c.26285G>T (p.Gly8762Val)
c.26249G>T (p.Gly8750Val)
c.26096G>T (p.Gly8699Val)
6g.152122614C>GCA366089103ESR1,SYNE1c.2750G>C (p.Gly917Ala)
c.26216G>C (p.Gly8739Ala)
c.26072G>C (p.Gly8691Ala)
c.1559G>C
c.1934G>C
c.1801G>C
c.2066G>C (n.2066G>C)
c.25001G>C (p.Gly8334Ala)
n.2964G>C
c.4992G>C (n.4992G>C)
n.9908G>C
c.4095G>C (n.4095G>C)
n.9800G>C
c.851-2652C>G (n.851-2652C>G)
n.2830G>C
n.6853G>C
n.2994G>C
c.2681G>C (p.Gly894Ala)
c.26363G>C (p.Gly8788Ala)
c.26351G>C (p.Gly8784Ala)
c.26342G>C (p.Gly8781Ala)
c.26321G>C (p.Gly8774Ala)
c.26312G>C (p.Gly8771Ala)
c.26306G>C (p.Gly8769Ala)
c.26294G>C (p.Gly8765Ala)
c.26291G>C (p.Gly8764Ala)
c.26252G>C (p.Gly8751Ala)
c.26237G>C (p.Gly8746Ala)
c.26222G>C (p.Gly8741Ala)
c.26210G>C (p.Gly8737Ala)
c.26207G>C (p.Gly8736Ala)
c.26204G>C (p.Gly8735Ala)
c.*27G>C (n.*27G>C)
c.26360G>C (p.Gly8787Ala)
c.26348G>C (p.Gly8783Ala)
c.26198G>C (p.Gly8733Ala)
c.24638G>C (p.Gly8213Ala)
c.24131G>C (p.Gly8044Ala)
c.19598G>C (p.Gly6533Ala)
c.26336G>C (p.Gly8779Ala)
c.26285G>C (p.Gly8762Ala)
c.26249G>C (p.Gly8750Ala)
c.26096G>C (p.Gly8699Ala)
6g.152122614C>TCA366089105ESR1,SYNE1c.2750G>A (p.Gly917Asp)
c.26216G>A (p.Gly8739Asp)
c.26072G>A (p.Gly8691Asp)
c.1559G>A
c.1934G>A
c.1801G>A
c.2066G>A (n.2066G>A)
c.25001G>A (p.Gly8334Asp)
n.2964G>A
c.4992G>A (n.4992G>A)
n.9908G>A
c.4095G>A (n.4095G>A)
n.9800G>A
c.851-2652C>T (n.851-2652C>T)
n.2830G>A
n.6853G>A
n.2994G>A
c.2681G>A (p.Gly894Asp)
c.26363G>A (p.Gly8788Asp)
c.26351G>A (p.Gly8784Asp)
c.26342G>A (p.Gly8781Asp)
c.26321G>A (p.Gly8774Asp)
c.26312G>A (p.Gly8771Asp)
c.26306G>A (p.Gly8769Asp)
c.26294G>A (p.Gly8765Asp)
c.26291G>A (p.Gly8764Asp)
c.26252G>A (p.Gly8751Asp)
c.26237G>A (p.Gly8746Asp)
c.26222G>A (p.Gly8741Asp)
c.26210G>A (p.Gly8737Asp)
c.26207G>A (p.Gly8736Asp)
c.26204G>A (p.Gly8735Asp)
c.*27G>A (n.*27G>A)
c.26360G>A (p.Gly8787Asp)
c.26348G>A (p.Gly8783Asp)
c.26198G>A (p.Gly8733Asp)
c.24638G>A (p.Gly8213Asp)
c.24131G>A (p.Gly8044Asp)
c.19598G>A (p.Gly6533Asp)
c.26336G>A (p.Gly8779Asp)
c.26285G>A (p.Gly8762Asp)
c.26249G>A (p.Gly8750Asp)
c.26096G>A (p.Gly8699Asp)
6g.152122615C>ACA366089106ESR1,SYNE1c.2749G>T (p.Gly917Cys)
c.26215G>T (p.Gly8739Cys)
c.26071G>T (p.Gly8691Cys)
c.1558G>T
c.1933G>T
c.1800G>T
c.2065G>T (n.2065G>T)
c.25000G>T (p.Gly8334Cys)
n.2963G>T
c.4991G>T (n.4991G>T)
n.9907G>T
c.4094G>T (n.4094G>T)
n.9799G>T
c.851-2651C>A (n.851-2651C>A)
n.2829G>T
n.6852G>T
n.2993G>T
c.2680G>T (p.Gly894Cys)
c.26362G>T (p.Gly8788Cys)
c.26350G>T (p.Gly8784Cys)
c.26341G>T (p.Gly8781Cys)
c.26320G>T (p.Gly8774Cys)
c.26311G>T (p.Gly8771Cys)
c.26305G>T (p.Gly8769Cys)
c.26293G>T (p.Gly8765Cys)
c.26290G>T (p.Gly8764Cys)
c.26251G>T (p.Gly8751Cys)
c.26236G>T (p.Gly8746Cys)
c.26221G>T (p.Gly8741Cys)
c.26209G>T (p.Gly8737Cys)
c.26206G>T (p.Gly8736Cys)
c.26203G>T (p.Gly8735Cys)
c.*26G>T (n.*26G>T)
c.26359G>T (p.Gly8787Cys)
c.26347G>T (p.Gly8783Cys)
c.26197G>T (p.Gly8733Cys)
c.24637G>T (p.Gly8213Cys)
c.24130G>T (p.Gly8044Cys)
c.19597G>T (p.Gly6533Cys)
c.26335G>T (p.Gly8779Cys)
c.26284G>T (p.Gly8762Cys)
c.26248G>T (p.Gly8750Cys)
c.26095G>T (p.Gly8699Cys)
 gnomAD v4
6g.152122615C=CA1673189076ESR1,SYNE1c.2749G= (p.Gly917=)
c.26215G= (p.Gly8739=)
c.26071G= (p.Gly8691=)
c.1558G=
c.1933G=
c.1800G=
c.2065G= (n.2065G=)
c.25000G= (p.Gly8334=)
n.2963G=
c.4991G= (n.4991G=)
n.9907G=
c.4094G= (n.4094G=)
n.9799G=
c.851-2651C= (n.851-2651C=)
n.2829G=
n.6852G=
n.2993G=
c.2680G= (p.Gly894=)
c.26362G= (p.Gly8788=)
c.26350G= (p.Gly8784=)
c.26341G= (p.Gly8781=)
c.26320G= (p.Gly8774=)
c.26311G= (p.Gly8771=)
c.26305G= (p.Gly8769=)
c.26293G= (p.Gly8765=)
c.26290G= (p.Gly8764=)
c.26251G= (p.Gly8751=)
c.26236G= (p.Gly8746=)
c.26221G= (p.Gly8741=)
c.26209G= (p.Gly8737=)
c.26206G= (p.Gly8736=)
c.26203G= (p.Gly8735=)
c.*26G= (n.*26G=)
c.26359G= (p.Gly8787=)
c.26347G= (p.Gly8783=)
c.26197G= (p.Gly8733=)
c.24637G= (p.Gly8213=)
c.24130G= (p.Gly8044=)
c.19597G= (p.Gly6533=)
c.26335G= (p.Gly8779=)
c.26284G= (p.Gly8762=)
c.26248G= (p.Gly8750=)
c.26095G= (p.Gly8699=)
6g.152122615C>GCA366089108ESR1,SYNE1c.2749G>C (p.Gly917Arg)
c.26215G>C (p.Gly8739Arg)
c.26071G>C (p.Gly8691Arg)
c.1558G>C
c.1933G>C
c.1800G>C
c.2065G>C (n.2065G>C)
c.25000G>C (p.Gly8334Arg)
n.2963G>C
c.4991G>C (n.4991G>C)
n.9907G>C
c.4094G>C (n.4094G>C)
n.9799G>C
c.851-2651C>G (n.851-2651C>G)
n.2829G>C
n.6852G>C
n.2993G>C
c.2680G>C (p.Gly894Arg)
c.26362G>C (p.Gly8788Arg)
c.26350G>C (p.Gly8784Arg)
c.26341G>C (p.Gly8781Arg)
c.26320G>C (p.Gly8774Arg)
c.26311G>C (p.Gly8771Arg)
c.26305G>C (p.Gly8769Arg)
c.26293G>C (p.Gly8765Arg)
c.26290G>C (p.Gly8764Arg)
c.26251G>C (p.Gly8751Arg)
c.26236G>C (p.Gly8746Arg)
c.26221G>C (p.Gly8741Arg)
c.26209G>C (p.Gly8737Arg)
c.26206G>C (p.Gly8736Arg)
c.26203G>C (p.Gly8735Arg)
c.*26G>C (n.*26G>C)
c.26359G>C (p.Gly8787Arg)
c.26347G>C (p.Gly8783Arg)
c.26197G>C (p.Gly8733Arg)
c.24637G>C (p.Gly8213Arg)
c.24130G>C (p.Gly8044Arg)
c.19597G>C (p.Gly6533Arg)
c.26335G>C (p.Gly8779Arg)
c.26284G>C (p.Gly8762Arg)
c.26248G>C (p.Gly8750Arg)
c.26095G>C (p.Gly8699Arg)
 gnomAD v4
6g.152122615C>TCA4052601ESR1,SYNE1c.2749G>A (p.Gly917Ser)
c.26215G>A (p.Gly8739Ser)
c.26071G>A (p.Gly8691Ser)
c.1558G>A
c.1933G>A
c.1800G>A
c.2065G>A (n.2065G>A)
c.25000G>A (p.Gly8334Ser)
n.2963G>A
c.4991G>A (n.4991G>A)
n.9907G>A
c.4094G>A (n.4094G>A)
n.9799G>A
c.851-2651C>T (n.851-2651C>T)
n.2829G>A
n.6852G>A
n.2993G>A
c.2680G>A (p.Gly894Ser)
c.26362G>A (p.Gly8788Ser)
c.26350G>A (p.Gly8784Ser)
c.26341G>A (p.Gly8781Ser)
c.26320G>A (p.Gly8774Ser)
c.26311G>A (p.Gly8771Ser)
c.26305G>A (p.Gly8769Ser)
c.26293G>A (p.Gly8765Ser)
c.26290G>A (p.Gly8764Ser)
c.26251G>A (p.Gly8751Ser)
c.26236G>A (p.Gly8746Ser)
c.26221G>A (p.Gly8741Ser)
c.26209G>A (p.Gly8737Ser)
c.26206G>A (p.Gly8736Ser)
c.26203G>A (p.Gly8735Ser)
c.*26G>A (n.*26G>A)
c.26359G>A (p.Gly8787Ser)
c.26347G>A (p.Gly8783Ser)
c.26197G>A (p.Gly8733Ser)
c.24637G>A (p.Gly8213Ser)
c.24130G>A (p.Gly8044Ser)
c.19597G>A (p.Gly6533Ser)
c.26335G>A (p.Gly8779Ser)
c.26284G>A (p.Gly8762Ser)
c.26248G>A (p.Gly8750Ser)
c.26095G>A (p.Gly8699Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122616G>ACA4052603ESR1,SYNE1c.2748C>T (p.Arg916=)
c.26214C>T (p.Arg8738=)
c.26070C>T (p.Arg8690=)
c.1557C>T
c.1932C>T
c.1799C>T
c.2064C>T (n.2064C>T)
c.24999C>T (p.Arg8333=)
n.2962C>T
c.4990C>T (n.4990C>T)
n.9906C>T
c.4093C>T (n.4093C>T)
n.9798C>T
c.851-2650G>A (n.851-2650G>A)
n.2828C>T
n.6851C>T
n.2992C>T
c.2679C>T (p.Arg893=)
c.26361C>T (p.Arg8787=)
c.26349C>T (p.Arg8783=)
c.26340C>T (p.Arg8780=)
c.26319C>T (p.Arg8773=)
c.26310C>T (p.Arg8770=)
c.26304C>T (p.Arg8768=)
c.26292C>T (p.Arg8764=)
c.26289C>T (p.Arg8763=)
c.26250C>T (p.Arg8750=)
c.26235C>T (p.Arg8745=)
c.26220C>T (p.Arg8740=)
c.26208C>T (p.Arg8736=)
c.26205C>T (p.Arg8735=)
c.26202C>T (p.Arg8734=)
c.*25C>T (n.*25C>T)
c.26358C>T (p.Arg8786=)
c.26346C>T (p.Arg8782=)
c.26196C>T (p.Arg8732=)
c.24636C>T (p.Arg8212=)
c.24129C>T (p.Arg8043=)
c.19596C>T (p.Arg6532=)
c.26334C>T (p.Arg8778=)
c.26283C>T (p.Arg8761=)
c.26247C>T (p.Arg8749=)
c.26094C>T (p.Arg8698=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122616G>CCA452969650ESR1,SYNE1c.2748C>G (p.Arg916=)
c.26214C>G (p.Arg8738=)
c.26070C>G (p.Arg8690=)
c.1557C>G
c.1932C>G
c.1799C>G
c.2064C>G (n.2064C>G)
c.24999C>G (p.Arg8333=)
n.2962C>G
c.4990C>G (n.4990C>G)
n.9906C>G
c.4093C>G (n.4093C>G)
n.9798C>G
c.851-2650G>C (n.851-2650G>C)
n.2828C>G
n.6851C>G
n.2992C>G
c.2679C>G (p.Arg893=)
c.26361C>G (p.Arg8787=)
c.26349C>G (p.Arg8783=)
c.26340C>G (p.Arg8780=)
c.26319C>G (p.Arg8773=)
c.26310C>G (p.Arg8770=)
c.26304C>G (p.Arg8768=)
c.26292C>G (p.Arg8764=)
c.26289C>G (p.Arg8763=)
c.26250C>G (p.Arg8750=)
c.26235C>G (p.Arg8745=)
c.26220C>G (p.Arg8740=)
c.26208C>G (p.Arg8736=)
c.26205C>G (p.Arg8735=)
c.26202C>G (p.Arg8734=)
c.*25C>G (n.*25C>G)
c.26358C>G (p.Arg8786=)
c.26346C>G (p.Arg8782=)
c.26196C>G (p.Arg8732=)
c.24636C>G (p.Arg8212=)
c.24129C>G (p.Arg8043=)
c.19596C>G (p.Arg6532=)
c.26334C>G (p.Arg8778=)
c.26283C>G (p.Arg8761=)
c.26247C>G (p.Arg8749=)
c.26094C>G (p.Arg8698=)
6g.152122616G=CA1673189084ESR1,SYNE1c.2748C= (p.Arg916=)
c.26214C= (p.Arg8738=)
c.26070C= (p.Arg8690=)
c.1557C=
c.1932C=
c.1799C=
c.2064C= (n.2064C=)
c.24999C= (p.Arg8333=)
n.2962C=
c.4990C= (n.4990C=)
n.9906C=
c.4093C= (n.4093C=)
n.9798C=
c.851-2650G= (n.851-2650G=)
n.2828C=
n.6851C=
n.2992C=
c.2679C= (p.Arg893=)
c.26361C= (p.Arg8787=)
c.26349C= (p.Arg8783=)
c.26340C= (p.Arg8780=)
c.26319C= (p.Arg8773=)
c.26310C= (p.Arg8770=)
c.26304C= (p.Arg8768=)
c.26292C= (p.Arg8764=)
c.26289C= (p.Arg8763=)
c.26250C= (p.Arg8750=)
c.26235C= (p.Arg8745=)
c.26220C= (p.Arg8740=)
c.26208C= (p.Arg8736=)
c.26205C= (p.Arg8735=)
c.26202C= (p.Arg8734=)
c.*25C= (n.*25C=)
c.26358C= (p.Arg8786=)
c.26346C= (p.Arg8782=)
c.26196C= (p.Arg8732=)
c.24636C= (p.Arg8212=)
c.24129C= (p.Arg8043=)
c.19596C= (p.Arg6532=)
c.26334C= (p.Arg8778=)
c.26283C= (p.Arg8761=)
c.26247C= (p.Arg8749=)
c.26094C= (p.Arg8698=)
6g.152122616G>TCA452969649ESR1,SYNE1c.2748C>A (p.Arg916=)
c.26214C>A (p.Arg8738=)
c.26070C>A (p.Arg8690=)
c.1557C>A
c.1932C>A
c.1799C>A
c.2064C>A (n.2064C>A)
c.24999C>A (p.Arg8333=)
n.2962C>A
c.4990C>A (n.4990C>A)
n.9906C>A
c.4093C>A (n.4093C>A)
n.9798C>A
c.851-2650G>T (n.851-2650G>T)
n.2828C>A
n.6851C>A
n.2992C>A
c.2679C>A (p.Arg893=)
c.26361C>A (p.Arg8787=)
c.26349C>A (p.Arg8783=)
c.26340C>A (p.Arg8780=)
c.26319C>A (p.Arg8773=)
c.26310C>A (p.Arg8770=)
c.26304C>A (p.Arg8768=)
c.26292C>A (p.Arg8764=)
c.26289C>A (p.Arg8763=)
c.26250C>A (p.Arg8750=)
c.26235C>A (p.Arg8745=)
c.26220C>A (p.Arg8740=)
c.26208C>A (p.Arg8736=)
c.26205C>A (p.Arg8735=)
c.26202C>A (p.Arg8734=)
c.*25C>A (n.*25C>A)
c.26358C>A (p.Arg8786=)
c.26346C>A (p.Arg8782=)
c.26196C>A (p.Arg8732=)
c.24636C>A (p.Arg8212=)
c.24129C>A (p.Arg8043=)
c.19596C>A (p.Arg6532=)
c.26334C>A (p.Arg8778=)
c.26283C>A (p.Arg8761=)
c.26247C>A (p.Arg8749=)
c.26094C>A (p.Arg8698=)
6g.152122616_152122617delinsGCCA1673189085ESR1,SYNE1c.2747_2748delinsGC (p.Arg916=)
c.26213_26214delinsGC (p.Arg8738=)
c.26069_26070delinsGC (p.Arg8690=)
c.1556_1557delinsGC
c.1931_1932delinsGC
c.1798_1799delinsGC
c.2063_2064delinsGC (n.2063_2064delinsGC)
c.24998_24999delinsGC (p.Arg8333=)
n.2961_2962delinsGC
c.4989_4990delinsGC (n.4989_4990delinsGC)
n.9905_9906delinsGC
c.4092_4093delinsGC (n.4092_4093delinsGC)
n.9797_9798delinsGC
c.851-2650_851-2649delinsGC (n.851-2650_851-2649delinsGC)
n.2827_2828delinsGC
n.6850_6851delinsGC
n.2991_2992delinsGC
c.2678_2679delinsGC (p.Arg893=)
c.26360_26361delinsGC (p.Arg8787=)
c.26348_26349delinsGC (p.Arg8783=)
c.26339_26340delinsGC (p.Arg8780=)
c.26318_26319delinsGC (p.Arg8773=)
c.26309_26310delinsGC (p.Arg8770=)
c.26303_26304delinsGC (p.Arg8768=)
c.26291_26292delinsGC (p.Arg8764=)
c.26288_26289delinsGC (p.Arg8763=)
c.26249_26250delinsGC (p.Arg8750=)
c.26234_26235delinsGC (p.Arg8745=)
c.26219_26220delinsGC (p.Arg8740=)
c.26207_26208delinsGC (p.Arg8736=)
c.26204_26205delinsGC (p.Arg8735=)
c.26201_26202delinsGC (p.Arg8734=)
c.*24_*25delinsGC (n.*24_*25delinsGC)
c.26357_26358delinsGC (p.Arg8786=)
c.26345_26346delinsGC (p.Arg8782=)
c.26195_26196delinsGC (p.Arg8732=)
c.24635_24636delinsGC (p.Arg8212=)
c.24128_24129delinsGC (p.Arg8043=)
c.19595_19596delinsGC (p.Arg6532=)
c.26333_26334delinsGC (p.Arg8778=)
c.26282_26283delinsGC (p.Arg8761=)
c.26246_26247delinsGC (p.Arg8749=)
c.26093_26094delinsGC (p.Arg8698=)
6g.152122617delCA4052602ESR1,SYNE1c.2747del (p.Arg916ProfsTer?)
c.26213del (p.Arg8738ProfsTer?)
c.26069del (p.Arg8690ProfsTer?)
c.1556del
c.1931del
c.1798del
c.2063del (n.2063del)
c.24998del (p.Arg8333ProfsTer?)
n.2961del
c.4989del (n.4989del)
n.9905del
c.4092del (n.4092del)
n.9797del
c.851-2649del (n.851-2649del)
n.2827del
n.6850del
n.2991del
c.2678del (p.Arg893ProfsTer?)
c.26360del (p.Arg8787ProfsTer?)
c.26348del (p.Arg8783ProfsTer?)
c.26339del (p.Arg8780ProfsTer?)
c.26318del (p.Arg8773ProfsTer?)
c.26309del (p.Arg8770ProfsTer?)
c.26303del (p.Arg8768ProfsTer?)
c.26291del (p.Arg8764ProfsTer?)
c.26288del (p.Arg8763ProfsTer?)
c.26249del (p.Arg8750ProfsTer?)
c.26234del (p.Arg8745ProfsTer?)
c.26219del (p.Arg8740ProfsTer?)
c.26207del (p.Arg8736ProfsTer?)
c.26204del (p.Arg8735ProfsTer?)
c.26201del (p.Arg8734ProfsTer?)
c.*24del (n.*24del)
c.26357del (p.Arg8786ProfsTer?)
c.26345del (p.Arg8782ProfsTer?)
c.26195del (p.Arg8732ProfsTer?)
c.24635del (p.Arg8212ProfsTer?)
c.24128del (p.Arg8043ProfsTer?)
c.19595del (p.Arg6532ProfsTer?)
c.26333del (p.Arg8778ProfsTer?)
c.26282del (p.Arg8761ProfsTer?)
c.26246del (p.Arg8749ProfsTer?)
c.26093del (p.Arg8698ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122617C>ACA366089113ESR1,SYNE1c.2747G>T (p.Arg916Leu)
c.26213G>T (p.Arg8738Leu)
c.26069G>T (p.Arg8690Leu)
c.1556G>T
c.1931G>T
c.1798G>T
c.2063G>T (n.2063G>T)
c.24998G>T (p.Arg8333Leu)
n.2961G>T
c.4989G>T (n.4989G>T)
n.9905G>T
c.4092G>T (n.4092G>T)
n.9797G>T
c.851-2649C>A (n.851-2649C>A)
n.2827G>T
n.6850G>T
n.2991G>T
c.2678G>T (p.Arg893Leu)
c.26360G>T (p.Arg8787Leu)
c.26348G>T (p.Arg8783Leu)
c.26339G>T (p.Arg8780Leu)
c.26318G>T (p.Arg8773Leu)
c.26309G>T (p.Arg8770Leu)
c.26303G>T (p.Arg8768Leu)
c.26291G>T (p.Arg8764Leu)
c.26288G>T (p.Arg8763Leu)
c.26249G>T (p.Arg8750Leu)
c.26234G>T (p.Arg8745Leu)
c.26219G>T (p.Arg8740Leu)
c.26207G>T (p.Arg8736Leu)
c.26204G>T (p.Arg8735Leu)
c.26201G>T (p.Arg8734Leu)
c.*24G>T (n.*24G>T)
c.26357G>T (p.Arg8786Leu)
c.26345G>T (p.Arg8782Leu)
c.26195G>T (p.Arg8732Leu)
c.24635G>T (p.Arg8212Leu)
c.24128G>T (p.Arg8043Leu)
c.19595G>T (p.Arg6532Leu)
c.26333G>T (p.Arg8778Leu)
c.26282G>T (p.Arg8761Leu)
c.26246G>T (p.Arg8749Leu)
c.26093G>T (p.Arg8698Leu)
 gnomAD v4
6g.152122617C=CA1673189091ESR1,SYNE1c.2747G= (p.Arg916=)
c.26213G= (p.Arg8738=)
c.26069G= (p.Arg8690=)
c.1556G=
c.1931G=
c.1798G=
c.2063G= (n.2063G=)
c.24998G= (p.Arg8333=)
n.2961G=
c.4989G= (n.4989G=)
n.9905G=
c.4092G= (n.4092G=)
n.9797G=
c.851-2649C= (n.851-2649C=)
n.2827G=
n.6850G=
n.2991G=
c.2678G= (p.Arg893=)
c.26360G= (p.Arg8787=)
c.26348G= (p.Arg8783=)
c.26339G= (p.Arg8780=)
c.26318G= (p.Arg8773=)
c.26309G= (p.Arg8770=)
c.26303G= (p.Arg8768=)
c.26291G= (p.Arg8764=)
c.26288G= (p.Arg8763=)
c.26249G= (p.Arg8750=)
c.26234G= (p.Arg8745=)
c.26219G= (p.Arg8740=)
c.26207G= (p.Arg8736=)
c.26204G= (p.Arg8735=)
c.26201G= (p.Arg8734=)
c.*24G= (n.*24G=)
c.26357G= (p.Arg8786=)
c.26345G= (p.Arg8782=)
c.26195G= (p.Arg8732=)
c.24635G= (p.Arg8212=)
c.24128G= (p.Arg8043=)
c.19595G= (p.Arg6532=)
c.26333G= (p.Arg8778=)
c.26282G= (p.Arg8761=)
c.26246G= (p.Arg8749=)
c.26093G= (p.Arg8698=)
6g.152122617C>GCA366089118ESR1,SYNE1c.2747G>C (p.Arg916Pro)
c.26213G>C (p.Arg8738Pro)
c.26069G>C (p.Arg8690Pro)
c.1556G>C
c.1931G>C
c.1798G>C
c.2063G>C (n.2063G>C)
c.24998G>C (p.Arg8333Pro)
n.2961G>C
c.4989G>C (n.4989G>C)
n.9905G>C
c.4092G>C (n.4092G>C)
n.9797G>C
c.851-2649C>G (n.851-2649C>G)
n.2827G>C
n.6850G>C
n.2991G>C
c.2678G>C (p.Arg893Pro)
c.26360G>C (p.Arg8787Pro)
c.26348G>C (p.Arg8783Pro)
c.26339G>C (p.Arg8780Pro)
c.26318G>C (p.Arg8773Pro)
c.26309G>C (p.Arg8770Pro)
c.26303G>C (p.Arg8768Pro)
c.26291G>C (p.Arg8764Pro)
c.26288G>C (p.Arg8763Pro)
c.26249G>C (p.Arg8750Pro)
c.26234G>C (p.Arg8745Pro)
c.26219G>C (p.Arg8740Pro)
c.26207G>C (p.Arg8736Pro)
c.26204G>C (p.Arg8735Pro)
c.26201G>C (p.Arg8734Pro)
c.*24G>C (n.*24G>C)
c.26357G>C (p.Arg8786Pro)
c.26345G>C (p.Arg8782Pro)
c.26195G>C (p.Arg8732Pro)
c.24635G>C (p.Arg8212Pro)
c.24128G>C (p.Arg8043Pro)
c.19595G>C (p.Arg6532Pro)
c.26333G>C (p.Arg8778Pro)
c.26282G>C (p.Arg8761Pro)
c.26246G>C (p.Arg8749Pro)
c.26093G>C (p.Arg8698Pro)
6g.152122617C>TCA366089116ESR1,SYNE1c.2747G>A (p.Arg916His)
c.26213G>A (p.Arg8738His)
c.26069G>A (p.Arg8690His)
c.1556G>A
c.1931G>A
c.1798G>A
c.2063G>A (n.2063G>A)
c.24998G>A (p.Arg8333His)
n.2961G>A
c.4989G>A (n.4989G>A)
n.9905G>A
c.4092G>A (n.4092G>A)
n.9797G>A
c.851-2649C>T (n.851-2649C>T)
n.2827G>A
n.6850G>A
n.2991G>A
c.2678G>A (p.Arg893His)
c.26360G>A (p.Arg8787His)
c.26348G>A (p.Arg8783His)
c.26339G>A (p.Arg8780His)
c.26318G>A (p.Arg8773His)
c.26309G>A (p.Arg8770His)
c.26303G>A (p.Arg8768His)
c.26291G>A (p.Arg8764His)
c.26288G>A (p.Arg8763His)
c.26249G>A (p.Arg8750His)
c.26234G>A (p.Arg8745His)
c.26219G>A (p.Arg8740His)
c.26207G>A (p.Arg8736His)
c.26204G>A (p.Arg8735His)
c.26201G>A (p.Arg8734His)
c.*24G>A (n.*24G>A)
c.26357G>A (p.Arg8786His)
c.26345G>A (p.Arg8782His)
c.26195G>A (p.Arg8732His)
c.24635G>A (p.Arg8212His)
c.24128G>A (p.Arg8043His)
c.19595G>A (p.Arg6532His)
c.26333G>A (p.Arg8778His)
c.26282G>A (p.Arg8761His)
c.26246G>A (p.Arg8749His)
c.26093G>A (p.Arg8698His)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122618G>ACA4052604ESR1,SYNE1c.2746C>T (p.Arg916Cys)
c.26212C>T (p.Arg8738Cys)
c.26068C>T (p.Arg8690Cys)
c.1555C>T
c.1930C>T
c.1797C>T
c.2062C>T (n.2062C>T)
c.24997C>T (p.Arg8333Cys)
n.2960C>T
c.4988C>T (n.4988C>T)
n.9904C>T
c.4091C>T (n.4091C>T)
n.9796C>T
c.851-2648G>A (n.851-2648G>A)
n.2826C>T
n.6849C>T
n.2990C>T
c.2677C>T (p.Arg893Cys)
c.26359C>T (p.Arg8787Cys)
c.26347C>T (p.Arg8783Cys)
c.26338C>T (p.Arg8780Cys)
c.26317C>T (p.Arg8773Cys)
c.26308C>T (p.Arg8770Cys)
c.26302C>T (p.Arg8768Cys)
c.26290C>T (p.Arg8764Cys)
c.26287C>T (p.Arg8763Cys)
c.26248C>T (p.Arg8750Cys)
c.26233C>T (p.Arg8745Cys)
c.26218C>T (p.Arg8740Cys)
c.26206C>T (p.Arg8736Cys)
c.26203C>T (p.Arg8735Cys)
c.26200C>T (p.Arg8734Cys)
c.*23C>T (n.*23C>T)
c.26356C>T (p.Arg8786Cys)
c.26344C>T (p.Arg8782Cys)
c.26194C>T (p.Arg8732Cys)
c.24634C>T (p.Arg8212Cys)
c.24127C>T (p.Arg8043Cys)
c.19594C>T (p.Arg6532Cys)
c.26332C>T (p.Arg8778Cys)
c.26281C>T (p.Arg8761Cys)
c.26245C>T (p.Arg8749Cys)
c.26092C>T (p.Arg8698Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
6g.152122618G>CCA366089121ESR1,SYNE1c.2746C>G (p.Arg916Gly)
c.26212C>G (p.Arg8738Gly)
c.26068C>G (p.Arg8690Gly)
c.1555C>G
c.1930C>G
c.1797C>G
c.2062C>G (n.2062C>G)
c.24997C>G (p.Arg8333Gly)
n.2960C>G
c.4988C>G (n.4988C>G)
n.9904C>G
c.4091C>G (n.4091C>G)
n.9796C>G
c.851-2648G>C (n.851-2648G>C)
n.2826C>G
n.6849C>G
n.2990C>G
c.2677C>G (p.Arg893Gly)
c.26359C>G (p.Arg8787Gly)
c.26347C>G (p.Arg8783Gly)
c.26338C>G (p.Arg8780Gly)
c.26317C>G (p.Arg8773Gly)
c.26308C>G (p.Arg8770Gly)
c.26302C>G (p.Arg8768Gly)
c.26290C>G (p.Arg8764Gly)
c.26287C>G (p.Arg8763Gly)
c.26248C>G (p.Arg8750Gly)
c.26233C>G (p.Arg8745Gly)
c.26218C>G (p.Arg8740Gly)
c.26206C>G (p.Arg8736Gly)
c.26203C>G (p.Arg8735Gly)
c.26200C>G (p.Arg8734Gly)
c.*23C>G (n.*23C>G)
c.26356C>G (p.Arg8786Gly)
c.26344C>G (p.Arg8782Gly)
c.26194C>G (p.Arg8732Gly)
c.24634C>G (p.Arg8212Gly)
c.24127C>G (p.Arg8043Gly)
c.19594C>G (p.Arg6532Gly)
c.26332C>G (p.Arg8778Gly)
c.26281C>G (p.Arg8761Gly)
c.26245C>G (p.Arg8749Gly)
c.26092C>G (p.Arg8698Gly)
 gnomAD v4
6g.152122618G=CA1673189096ESR1,SYNE1c.2746C= (p.Arg916=)
c.26212C= (p.Arg8738=)
c.26068C= (p.Arg8690=)
c.1555C=
c.1930C=
c.1797C=
c.2062C= (n.2062C=)
c.24997C= (p.Arg8333=)
n.2960C=
c.4988C= (n.4988C=)
n.9904C=
c.4091C= (n.4091C=)
n.9796C=
c.851-2648G= (n.851-2648G=)
n.2826C=
n.6849C=
n.2990C=
c.2677C= (p.Arg893=)
c.26359C= (p.Arg8787=)
c.26347C= (p.Arg8783=)
c.26338C= (p.Arg8780=)
c.26317C= (p.Arg8773=)
c.26308C= (p.Arg8770=)
c.26302C= (p.Arg8768=)
c.26290C= (p.Arg8764=)
c.26287C= (p.Arg8763=)
c.26248C= (p.Arg8750=)
c.26233C= (p.Arg8745=)
c.26218C= (p.Arg8740=)
c.26206C= (p.Arg8736=)
c.26203C= (p.Arg8735=)
c.26200C= (p.Arg8734=)
c.*23C= (n.*23C=)
c.26356C= (p.Arg8786=)
c.26344C= (p.Arg8782=)
c.26194C= (p.Arg8732=)
c.24634C= (p.Arg8212=)
c.24127C= (p.Arg8043=)
c.19594C= (p.Arg6532=)
c.26332C= (p.Arg8778=)
c.26281C= (p.Arg8761=)
c.26245C= (p.Arg8749=)
c.26092C= (p.Arg8698=)
6g.152122618G>TCA366089123ESR1,SYNE1c.2746C>A (p.Arg916Ser)
c.26212C>A (p.Arg8738Ser)
c.26068C>A (p.Arg8690Ser)
c.1555C>A
c.1930C>A
c.1797C>A
c.2062C>A (n.2062C>A)
c.24997C>A (p.Arg8333Ser)
n.2960C>A
c.4988C>A (n.4988C>A)
n.9904C>A
c.4091C>A (n.4091C>A)
n.9796C>A
c.851-2648G>T (n.851-2648G>T)
n.2826C>A
n.6849C>A
n.2990C>A
c.2677C>A (p.Arg893Ser)
c.26359C>A (p.Arg8787Ser)
c.26347C>A (p.Arg8783Ser)
c.26338C>A (p.Arg8780Ser)
c.26317C>A (p.Arg8773Ser)
c.26308C>A (p.Arg8770Ser)
c.26302C>A (p.Arg8768Ser)
c.26290C>A (p.Arg8764Ser)
c.26287C>A (p.Arg8763Ser)
c.26248C>A (p.Arg8750Ser)
c.26233C>A (p.Arg8745Ser)
c.26218C>A (p.Arg8740Ser)
c.26206C>A (p.Arg8736Ser)
c.26203C>A (p.Arg8735Ser)
c.26200C>A (p.Arg8734Ser)
c.*23C>A (n.*23C>A)
c.26356C>A (p.Arg8786Ser)
c.26344C>A (p.Arg8782Ser)
c.26194C>A (p.Arg8732Ser)
c.24634C>A (p.Arg8212Ser)
c.24127C>A (p.Arg8043Ser)
c.19594C>A (p.Arg6532Ser)
c.26332C>A (p.Arg8778Ser)
c.26281C>A (p.Arg8761Ser)
c.26245C>A (p.Arg8749Ser)
c.26092C>A (p.Arg8698Ser)
6g.152122619G>ACA452969655ESR1,SYNE1c.2745C>T (p.Gly915=)
c.26211C>T (p.Gly8737=)
c.26067C>T (p.Gly8689=)
c.1554C>T
c.1929C>T
c.1796C>T
c.2061C>T (n.2061C>T)
c.24996C>T (p.Gly8332=)
n.2959C>T
c.4987C>T (n.4987C>T)
n.9903C>T
c.4090C>T (n.4090C>T)
n.9795C>T
c.851-2647G>A (n.851-2647G>A)
n.2825C>T
n.6848C>T
n.2989C>T
c.2676C>T (p.Gly892=)
c.26358C>T (p.Gly8786=)
c.26346C>T (p.Gly8782=)
c.26337C>T (p.Gly8779=)
c.26316C>T (p.Gly8772=)
c.26307C>T (p.Gly8769=)
c.26301C>T (p.Gly8767=)
c.26289C>T (p.Gly8763=)
c.26286C>T (p.Gly8762=)
c.26247C>T (p.Gly8749=)
c.26232C>T (p.Gly8744=)
c.26217C>T (p.Gly8739=)
c.26205C>T (p.Gly8735=)
c.26202C>T (p.Gly8734=)
c.26199C>T (p.Gly8733=)
c.*22C>T (n.*22C>T)
c.26355C>T (p.Gly8785=)
c.26343C>T (p.Gly8781=)
c.26193C>T (p.Gly8731=)
c.24633C>T (p.Gly8211=)
c.24126C>T (p.Gly8042=)
c.19593C>T (p.Gly6531=)
c.26331C>T (p.Gly8777=)
c.26280C>T (p.Gly8760=)
c.26244C>T (p.Gly8748=)
c.26091C>T (p.Gly8697=)
6g.152122619G>CCA452969656ESR1,SYNE1c.2745C>G (p.Gly915=)
c.26211C>G (p.Gly8737=)
c.26067C>G (p.Gly8689=)
c.1554C>G
c.1929C>G
c.1796C>G
c.2061C>G (n.2061C>G)
c.24996C>G (p.Gly8332=)
n.2959C>G
c.4987C>G (n.4987C>G)
n.9903C>G
c.4090C>G (n.4090C>G)
n.9795C>G
c.851-2647G>C (n.851-2647G>C)
n.2825C>G
n.6848C>G
n.2989C>G
c.2676C>G (p.Gly892=)
c.26358C>G (p.Gly8786=)
c.26346C>G (p.Gly8782=)
c.26337C>G (p.Gly8779=)
c.26316C>G (p.Gly8772=)
c.26307C>G (p.Gly8769=)
c.26301C>G (p.Gly8767=)
c.26289C>G (p.Gly8763=)
c.26286C>G (p.Gly8762=)
c.26247C>G (p.Gly8749=)
c.26232C>G (p.Gly8744=)
c.26217C>G (p.Gly8739=)
c.26205C>G (p.Gly8735=)
c.26202C>G (p.Gly8734=)
c.26199C>G (p.Gly8733=)
c.*22C>G (n.*22C>G)
c.26355C>G (p.Gly8785=)
c.26343C>G (p.Gly8781=)
c.26193C>G (p.Gly8731=)
c.24633C>G (p.Gly8211=)
c.24126C>G (p.Gly8042=)
c.19593C>G (p.Gly6531=)
c.26331C>G (p.Gly8777=)
c.26280C>G (p.Gly8760=)
c.26244C>G (p.Gly8748=)
c.26091C>G (p.Gly8697=)
6g.152122619G>TCA452969657ESR1,SYNE1c.2745C>A (p.Gly915=)
c.26211C>A (p.Gly8737=)
c.26067C>A (p.Gly8689=)
c.1554C>A
c.1929C>A
c.1796C>A
c.2061C>A (n.2061C>A)
c.24996C>A (p.Gly8332=)
n.2959C>A
c.4987C>A (n.4987C>A)
n.9903C>A
c.4090C>A (n.4090C>A)
n.9795C>A
c.851-2647G>T (n.851-2647G>T)
n.2825C>A
n.6848C>A
n.2989C>A
c.2676C>A (p.Gly892=)
c.26358C>A (p.Gly8786=)
c.26346C>A (p.Gly8782=)
c.26337C>A (p.Gly8779=)
c.26316C>A (p.Gly8772=)
c.26307C>A (p.Gly8769=)
c.26301C>A (p.Gly8767=)
c.26289C>A (p.Gly8763=)
c.26286C>A (p.Gly8762=)
c.26247C>A (p.Gly8749=)
c.26232C>A (p.Gly8744=)
c.26217C>A (p.Gly8739=)
c.26205C>A (p.Gly8735=)
c.26202C>A (p.Gly8734=)
c.26199C>A (p.Gly8733=)
c.*22C>A (n.*22C>A)
c.26355C>A (p.Gly8785=)
c.26343C>A (p.Gly8781=)
c.26193C>A (p.Gly8731=)
c.24633C>A (p.Gly8211=)
c.24126C>A (p.Gly8042=)
c.19593C>A (p.Gly6531=)
c.26331C>A (p.Gly8777=)
c.26280C>A (p.Gly8760=)
c.26244C>A (p.Gly8748=)
c.26091C>A (p.Gly8697=)
6g.152122620C>ACA4052605ESR1,SYNE1c.2744G>T (p.Gly915Val)
c.26210G>T (p.Gly8737Val)
c.26066G>T (p.Gly8689Val)
c.1553G>T
c.1928G>T
c.1795G>T
c.2060G>T (n.2060G>T)
c.24995G>T (p.Gly8332Val)
n.2958G>T
c.4986G>T (n.4986G>T)
n.9902G>T
c.4089G>T (n.4089G>T)
n.9794G>T
c.851-2646C>A (n.851-2646C>A)
n.2824G>T
n.6847G>T
n.2988G>T
c.2675G>T (p.Gly892Val)
c.26357G>T (p.Gly8786Val)
c.26345G>T (p.Gly8782Val)
c.26336G>T (p.Gly8779Val)
c.26315G>T (p.Gly8772Val)
c.26306G>T (p.Gly8769Val)
c.26300G>T (p.Gly8767Val)
c.26288G>T (p.Gly8763Val)
c.26285G>T (p.Gly8762Val)
c.26246G>T (p.Gly8749Val)
c.26231G>T (p.Gly8744Val)
c.26216G>T (p.Gly8739Val)
c.26204G>T (p.Gly8735Val)
c.26201G>T (p.Gly8734Val)
c.26198G>T (p.Gly8733Val)
c.*21G>T (n.*21G>T)
c.26354G>T (p.Gly8785Val)
c.26342G>T (p.Gly8781Val)
c.26192G>T (p.Gly8731Val)
c.24632G>T (p.Gly8211Val)
c.24125G>T (p.Gly8042Val)
c.19592G>T (p.Gly6531Val)
c.26330G>T (p.Gly8777Val)
c.26279G>T (p.Gly8760Val)
c.26243G>T (p.Gly8748Val)
c.26090G>T (p.Gly8697Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122620C=CA1673189106ESR1,SYNE1c.2744G= (p.Gly915=)
c.26210G= (p.Gly8737=)
c.26066G= (p.Gly8689=)
c.1553G=
c.1928G=
c.1795G=
c.2060G= (n.2060G=)
c.24995G= (p.Gly8332=)
n.2958G=
c.4986G= (n.4986G=)
n.9902G=
c.4089G= (n.4089G=)
n.9794G=
c.851-2646C= (n.851-2646C=)
n.2824G=
n.6847G=
n.2988G=
c.2675G= (p.Gly892=)
c.26357G= (p.Gly8786=)
c.26345G= (p.Gly8782=)
c.26336G= (p.Gly8779=)
c.26315G= (p.Gly8772=)
c.26306G= (p.Gly8769=)
c.26300G= (p.Gly8767=)
c.26288G= (p.Gly8763=)
c.26285G= (p.Gly8762=)
c.26246G= (p.Gly8749=)
c.26231G= (p.Gly8744=)
c.26216G= (p.Gly8739=)
c.26204G= (p.Gly8735=)
c.26201G= (p.Gly8734=)
c.26198G= (p.Gly8733=)
c.*21G= (n.*21G=)
c.26354G= (p.Gly8785=)
c.26342G= (p.Gly8781=)
c.26192G= (p.Gly8731=)
c.24632G= (p.Gly8211=)
c.24125G= (p.Gly8042=)
c.19592G= (p.Gly6531=)
c.26330G= (p.Gly8777=)
c.26279G= (p.Gly8760=)
c.26243G= (p.Gly8748=)
c.26090G= (p.Gly8697=)
6g.152122620C>GCA366089128ESR1,SYNE1c.2744G>C (p.Gly915Ala)
c.26210G>C (p.Gly8737Ala)
c.26066G>C (p.Gly8689Ala)
c.1553G>C
c.1928G>C
c.1795G>C
c.2060G>C (n.2060G>C)
c.24995G>C (p.Gly8332Ala)
n.2958G>C
c.4986G>C (n.4986G>C)
n.9902G>C
c.4089G>C (n.4089G>C)
n.9794G>C
c.851-2646C>G (n.851-2646C>G)
n.2824G>C
n.6847G>C
n.2988G>C
c.2675G>C (p.Gly892Ala)
c.26357G>C (p.Gly8786Ala)
c.26345G>C (p.Gly8782Ala)
c.26336G>C (p.Gly8779Ala)
c.26315G>C (p.Gly8772Ala)
c.26306G>C (p.Gly8769Ala)
c.26300G>C (p.Gly8767Ala)
c.26288G>C (p.Gly8763Ala)
c.26285G>C (p.Gly8762Ala)
c.26246G>C (p.Gly8749Ala)
c.26231G>C (p.Gly8744Ala)
c.26216G>C (p.Gly8739Ala)
c.26204G>C (p.Gly8735Ala)
c.26201G>C (p.Gly8734Ala)
c.26198G>C (p.Gly8733Ala)
c.*21G>C (n.*21G>C)
c.26354G>C (p.Gly8785Ala)
c.26342G>C (p.Gly8781Ala)
c.26192G>C (p.Gly8731Ala)
c.24632G>C (p.Gly8211Ala)
c.24125G>C (p.Gly8042Ala)
c.19592G>C (p.Gly6531Ala)
c.26330G>C (p.Gly8777Ala)
c.26279G>C (p.Gly8760Ala)
c.26243G>C (p.Gly8748Ala)
c.26090G>C (p.Gly8697Ala)
6g.152122620C>TCA366089126ESR1,SYNE1c.2744G>A (p.Gly915Asp)
c.26210G>A (p.Gly8737Asp)
c.26066G>A (p.Gly8689Asp)
c.1553G>A
c.1928G>A
c.1795G>A
c.2060G>A (n.2060G>A)
c.24995G>A (p.Gly8332Asp)
n.2958G>A
c.4986G>A (n.4986G>A)
n.9902G>A
c.4089G>A (n.4089G>A)
n.9794G>A
c.851-2646C>T (n.851-2646C>T)
n.2824G>A
n.6847G>A
n.2988G>A
c.2675G>A (p.Gly892Asp)
c.26357G>A (p.Gly8786Asp)
c.26345G>A (p.Gly8782Asp)
c.26336G>A (p.Gly8779Asp)
c.26315G>A (p.Gly8772Asp)
c.26306G>A (p.Gly8769Asp)
c.26300G>A (p.Gly8767Asp)
c.26288G>A (p.Gly8763Asp)
c.26285G>A (p.Gly8762Asp)
c.26246G>A (p.Gly8749Asp)
c.26231G>A (p.Gly8744Asp)
c.26216G>A (p.Gly8739Asp)
c.26204G>A (p.Gly8735Asp)
c.26201G>A (p.Gly8734Asp)
c.26198G>A (p.Gly8733Asp)
c.*21G>A (n.*21G>A)
c.26354G>A (p.Gly8785Asp)
c.26342G>A (p.Gly8781Asp)
c.26192G>A (p.Gly8731Asp)
c.24632G>A (p.Gly8211Asp)
c.24125G>A (p.Gly8042Asp)
c.19592G>A (p.Gly6531Asp)
c.26330G>A (p.Gly8777Asp)
c.26279G>A (p.Gly8760Asp)
c.26243G>A (p.Gly8748Asp)
c.26090G>A (p.Gly8697Asp)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122621C>ACA366089130ESR1,SYNE1c.2743G>T (p.Gly915Cys)
c.26209G>T (p.Gly8737Cys)
c.26065G>T (p.Gly8689Cys)
c.1552G>T
c.1927G>T
c.1794G>T
c.2059G>T (n.2059G>T)
c.24994G>T (p.Gly8332Cys)
n.2957G>T
c.4985G>T (n.4985G>T)
n.9901G>T
c.4088G>T (n.4088G>T)
n.9793G>T
c.851-2645C>A (n.851-2645C>A)
n.2823G>T
n.6846G>T
n.2987G>T
c.2674G>T (p.Gly892Cys)
c.26356G>T (p.Gly8786Cys)
c.26344G>T (p.Gly8782Cys)
c.26335G>T (p.Gly8779Cys)
c.26314G>T (p.Gly8772Cys)
c.26305G>T (p.Gly8769Cys)
c.26299G>T (p.Gly8767Cys)
c.26287G>T (p.Gly8763Cys)
c.26284G>T (p.Gly8762Cys)
c.26245G>T (p.Gly8749Cys)
c.26230G>T (p.Gly8744Cys)
c.26215G>T (p.Gly8739Cys)
c.26203G>T (p.Gly8735Cys)
c.26200G>T (p.Gly8734Cys)
c.26197G>T (p.Gly8733Cys)
c.*20G>T (n.*20G>T)
c.26353G>T (p.Gly8785Cys)
c.26341G>T (p.Gly8781Cys)
c.26191G>T (p.Gly8731Cys)
c.24631G>T (p.Gly8211Cys)
c.24124G>T (p.Gly8042Cys)
c.19591G>T (p.Gly6531Cys)
c.26329G>T (p.Gly8777Cys)
c.26278G>T (p.Gly8760Cys)
c.26242G>T (p.Gly8748Cys)
c.26089G>T (p.Gly8697Cys)
 dbSNP gnomAD v2 gnomAD v4
6g.152122621C=CA1673189119ESR1,SYNE1c.2743G= (p.Gly915=)
c.26209G= (p.Gly8737=)
c.26065G= (p.Gly8689=)
c.1552G=
c.1927G=
c.1794G=
c.2059G= (n.2059G=)
c.24994G= (p.Gly8332=)
n.2957G=
c.4985G= (n.4985G=)
n.9901G=
c.4088G= (n.4088G=)
n.9793G=
c.851-2645C= (n.851-2645C=)
n.2823G=
n.6846G=
n.2987G=
c.2674G= (p.Gly892=)
c.26356G= (p.Gly8786=)
c.26344G= (p.Gly8782=)
c.26335G= (p.Gly8779=)
c.26314G= (p.Gly8772=)
c.26305G= (p.Gly8769=)
c.26299G= (p.Gly8767=)
c.26287G= (p.Gly8763=)
c.26284G= (p.Gly8762=)
c.26245G= (p.Gly8749=)
c.26230G= (p.Gly8744=)
c.26215G= (p.Gly8739=)
c.26203G= (p.Gly8735=)
c.26200G= (p.Gly8734=)
c.26197G= (p.Gly8733=)
c.*20G= (n.*20G=)
c.26353G= (p.Gly8785=)
c.26341G= (p.Gly8781=)
c.26191G= (p.Gly8731=)
c.24631G= (p.Gly8211=)
c.24124G= (p.Gly8042=)
c.19591G= (p.Gly6531=)
c.26329G= (p.Gly8777=)
c.26278G= (p.Gly8760=)
c.26242G= (p.Gly8748=)
c.26089G= (p.Gly8697=)
6g.152122621C>GCA366089132ESR1,SYNE1c.2743G>C (p.Gly915Arg)
c.26209G>C (p.Gly8737Arg)
c.26065G>C (p.Gly8689Arg)
c.1552G>C
c.1927G>C
c.1794G>C
c.2059G>C (n.2059G>C)
c.24994G>C (p.Gly8332Arg)
n.2957G>C
c.4985G>C (n.4985G>C)
n.9901G>C
c.4088G>C (n.4088G>C)
n.9793G>C
c.851-2645C>G (n.851-2645C>G)
n.2823G>C
n.6846G>C
n.2987G>C
c.2674G>C (p.Gly892Arg)
c.26356G>C (p.Gly8786Arg)
c.26344G>C (p.Gly8782Arg)
c.26335G>C (p.Gly8779Arg)
c.26314G>C (p.Gly8772Arg)
c.26305G>C (p.Gly8769Arg)
c.26299G>C (p.Gly8767Arg)
c.26287G>C (p.Gly8763Arg)
c.26284G>C (p.Gly8762Arg)
c.26245G>C (p.Gly8749Arg)
c.26230G>C (p.Gly8744Arg)
c.26215G>C (p.Gly8739Arg)
c.26203G>C (p.Gly8735Arg)
c.26200G>C (p.Gly8734Arg)
c.26197G>C (p.Gly8733Arg)
c.*20G>C (n.*20G>C)
c.26353G>C (p.Gly8785Arg)
c.26341G>C (p.Gly8781Arg)
c.26191G>C (p.Gly8731Arg)
c.24631G>C (p.Gly8211Arg)
c.24124G>C (p.Gly8042Arg)
c.19591G>C (p.Gly6531Arg)
c.26329G>C (p.Gly8777Arg)
c.26278G>C (p.Gly8760Arg)
c.26242G>C (p.Gly8748Arg)
c.26089G>C (p.Gly8697Arg)
6g.152122621C>TCA155449ESR1,SYNE1c.2743G>A (p.Gly915Ser)
c.26209G>A (p.Gly8737Ser)
c.26065G>A (p.Gly8689Ser)
c.1552G>A
c.1927G>A
c.1794G>A
c.2059G>A (n.2059G>A)
c.24994G>A (p.Gly8332Ser)
n.2957G>A
c.4985G>A (n.4985G>A)
n.9901G>A
c.4088G>A (n.4088G>A)
n.9793G>A
c.851-2645C>T (n.851-2645C>T)
n.2823G>A
n.6846G>A
n.2987G>A
c.2674G>A (p.Gly892Ser)
c.26356G>A (p.Gly8786Ser)
c.26344G>A (p.Gly8782Ser)
c.26335G>A (p.Gly8779Ser)
c.26314G>A (p.Gly8772Ser)
c.26305G>A (p.Gly8769Ser)
c.26299G>A (p.Gly8767Ser)
c.26287G>A (p.Gly8763Ser)
c.26284G>A (p.Gly8762Ser)
c.26245G>A (p.Gly8749Ser)
c.26230G>A (p.Gly8744Ser)
c.26215G>A (p.Gly8739Ser)
c.26203G>A (p.Gly8735Ser)
c.26200G>A (p.Gly8734Ser)
c.26197G>A (p.Gly8733Ser)
c.*20G>A (n.*20G>A)
c.26353G>A (p.Gly8785Ser)
c.26341G>A (p.Gly8781Ser)
c.26191G>A (p.Gly8731Ser)
c.24631G>A (p.Gly8211Ser)
c.24124G>A (p.Gly8042Ser)
c.19591G>A (p.Gly6531Ser)
c.26329G>A (p.Gly8777Ser)
c.26278G>A (p.Gly8760Ser)
c.26242G>A (p.Gly8748Ser)
c.26089G>A (p.Gly8697Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122622G>ACA4052606ESR1,SYNE1c.2742C>T (p.Ser914=)
c.26208C>T (p.Ser8736=)
c.26064C>T (p.Ser8688=)
c.1551C>T
c.1926C>T
c.1793C>T
c.2058C>T (n.2058C>T)
c.24993C>T (p.Ser8331=)
n.2956C>T
c.4984C>T (n.4984C>T)
n.9900C>T
c.4087C>T (n.4087C>T)
n.9792C>T
c.851-2644G>A (n.851-2644G>A)
n.2822C>T
n.6845C>T
n.2986C>T
c.2673C>T (p.Ser891=)
c.26355C>T (p.Ser8785=)
c.26343C>T (p.Ser8781=)
c.26334C>T (p.Ser8778=)
c.26313C>T (p.Ser8771=)
c.26304C>T (p.Ser8768=)
c.26298C>T (p.Ser8766=)
c.26286C>T (p.Ser8762=)
c.26283C>T (p.Ser8761=)
c.26244C>T (p.Ser8748=)
c.26229C>T (p.Ser8743=)
c.26214C>T (p.Ser8738=)
c.26202C>T (p.Ser8734=)
c.26199C>T (p.Ser8733=)
c.26196C>T (p.Ser8732=)
c.*19C>T (n.*19C>T)
c.26352C>T (p.Ser8784=)
c.26340C>T (p.Ser8780=)
c.26190C>T (p.Ser8730=)
c.24630C>T (p.Ser8210=)
c.24123C>T (p.Ser8041=)
c.19590C>T (p.Ser6530=)
c.26328C>T (p.Ser8776=)
c.26277C>T (p.Ser8759=)
c.26241C>T (p.Ser8747=)
c.26088C>T (p.Ser8696=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122622G>CCA452969661ESR1,SYNE1c.2742C>G (p.Ser914=)
c.26208C>G (p.Ser8736=)
c.26064C>G (p.Ser8688=)
c.1551C>G
c.1926C>G
c.1793C>G
c.2058C>G (n.2058C>G)
c.24993C>G (p.Ser8331=)
n.2956C>G
c.4984C>G (n.4984C>G)
n.9900C>G
c.4087C>G (n.4087C>G)
n.9792C>G
c.851-2644G>C (n.851-2644G>C)
n.2822C>G
n.6845C>G
n.2986C>G
c.2673C>G (p.Ser891=)
c.26355C>G (p.Ser8785=)
c.26343C>G (p.Ser8781=)
c.26334C>G (p.Ser8778=)
c.26313C>G (p.Ser8771=)
c.26304C>G (p.Ser8768=)
c.26298C>G (p.Ser8766=)
c.26286C>G (p.Ser8762=)
c.26283C>G (p.Ser8761=)
c.26244C>G (p.Ser8748=)
c.26229C>G (p.Ser8743=)
c.26214C>G (p.Ser8738=)
c.26202C>G (p.Ser8734=)
c.26199C>G (p.Ser8733=)
c.26196C>G (p.Ser8732=)
c.*19C>G (n.*19C>G)
c.26352C>G (p.Ser8784=)
c.26340C>G (p.Ser8780=)
c.26190C>G (p.Ser8730=)
c.24630C>G (p.Ser8210=)
c.24123C>G (p.Ser8041=)
c.19590C>G (p.Ser6530=)
c.26328C>G (p.Ser8776=)
c.26277C>G (p.Ser8759=)
c.26241C>G (p.Ser8747=)
c.26088C>G (p.Ser8696=)
6g.152122622G=CA1673189128ESR1,SYNE1c.2742C= (p.Ser914=)
c.26208C= (p.Ser8736=)
c.26064C= (p.Ser8688=)
c.1551C=
c.1926C=
c.1793C=
c.2058C= (n.2058C=)
c.24993C= (p.Ser8331=)
n.2956C=
c.4984C= (n.4984C=)
n.9900C=
c.4087C= (n.4087C=)
n.9792C=
c.851-2644G= (n.851-2644G=)
n.2822C=
n.6845C=
n.2986C=
c.2673C= (p.Ser891=)
c.26355C= (p.Ser8785=)
c.26343C= (p.Ser8781=)
c.26334C= (p.Ser8778=)
c.26313C= (p.Ser8771=)
c.26304C= (p.Ser8768=)
c.26298C= (p.Ser8766=)
c.26286C= (p.Ser8762=)
c.26283C= (p.Ser8761=)
c.26244C= (p.Ser8748=)
c.26229C= (p.Ser8743=)
c.26214C= (p.Ser8738=)
c.26202C= (p.Ser8734=)
c.26199C= (p.Ser8733=)
c.26196C= (p.Ser8732=)
c.*19C= (n.*19C=)
c.26352C= (p.Ser8784=)
c.26340C= (p.Ser8780=)
c.26190C= (p.Ser8730=)
c.24630C= (p.Ser8210=)
c.24123C= (p.Ser8041=)
c.19590C= (p.Ser6530=)
c.26328C= (p.Ser8776=)
c.26277C= (p.Ser8759=)
c.26241C= (p.Ser8747=)
c.26088C= (p.Ser8696=)
6g.152122622G>TCA452969662ESR1,SYNE1c.2742C>A (p.Ser914=)
c.26208C>A (p.Ser8736=)
c.26064C>A (p.Ser8688=)
c.1551C>A
c.1926C>A
c.1793C>A
c.2058C>A (n.2058C>A)
c.24993C>A (p.Ser8331=)
n.2956C>A
c.4984C>A (n.4984C>A)
n.9900C>A
c.4087C>A (n.4087C>A)
n.9792C>A
c.851-2644G>T (n.851-2644G>T)
n.2822C>A
n.6845C>A
n.2986C>A
c.2673C>A (p.Ser891=)
c.26355C>A (p.Ser8785=)
c.26343C>A (p.Ser8781=)
c.26334C>A (p.Ser8778=)
c.26313C>A (p.Ser8771=)
c.26304C>A (p.Ser8768=)
c.26298C>A (p.Ser8766=)
c.26286C>A (p.Ser8762=)
c.26283C>A (p.Ser8761=)
c.26244C>A (p.Ser8748=)
c.26229C>A (p.Ser8743=)
c.26214C>A (p.Ser8738=)
c.26202C>A (p.Ser8734=)
c.26199C>A (p.Ser8733=)
c.26196C>A (p.Ser8732=)
c.*19C>A (n.*19C>A)
c.26352C>A (p.Ser8784=)
c.26340C>A (p.Ser8780=)
c.26190C>A (p.Ser8730=)
c.24630C>A (p.Ser8210=)
c.24123C>A (p.Ser8041=)
c.19590C>A (p.Ser6530=)
c.26328C>A (p.Ser8776=)
c.26277C>A (p.Ser8759=)
c.26241C>A (p.Ser8747=)
c.26088C>A (p.Ser8696=)
6g.152122623G>ACA366089135ESR1,SYNE1c.2741C>T (p.Ser914Phe)
c.26207C>T (p.Ser8736Phe)
c.26063C>T (p.Ser8688Phe)
c.1550C>T
c.1925C>T
c.1792C>T
c.2057C>T (n.2057C>T)
c.24992C>T (p.Ser8331Phe)
n.2955C>T
c.4983C>T (n.4983C>T)
n.9899C>T
c.4086C>T (n.4086C>T)
n.9791C>T
c.851-2643G>A (n.851-2643G>A)
n.2821C>T
n.6844C>T
n.2985C>T
c.2672C>T (p.Ser891Phe)
c.26354C>T (p.Ser8785Phe)
c.26342C>T (p.Ser8781Phe)
c.26333C>T (p.Ser8778Phe)
c.26312C>T (p.Ser8771Phe)
c.26303C>T (p.Ser8768Phe)
c.26297C>T (p.Ser8766Phe)
c.26285C>T (p.Ser8762Phe)
c.26282C>T (p.Ser8761Phe)
c.26243C>T (p.Ser8748Phe)
c.26228C>T (p.Ser8743Phe)
c.26213C>T (p.Ser8738Phe)
c.26201C>T (p.Ser8734Phe)
c.26198C>T (p.Ser8733Phe)
c.26195C>T (p.Ser8732Phe)
c.*18C>T (n.*18C>T)
c.26351C>T (p.Ser8784Phe)
c.26339C>T (p.Ser8780Phe)
c.26189C>T (p.Ser8730Phe)
c.24629C>T (p.Ser8210Phe)
c.24122C>T (p.Ser8041Phe)
c.19589C>T (p.Ser6530Phe)
c.26327C>T (p.Ser8776Phe)
c.26276C>T (p.Ser8759Phe)
c.26240C>T (p.Ser8747Phe)
c.26087C>T (p.Ser8696Phe)
 dbSNP
6g.152122623G>CCA366089137ESR1,SYNE1c.2741C>G (p.Ser914Cys)
c.26207C>G (p.Ser8736Cys)
c.26063C>G (p.Ser8688Cys)
c.1550C>G
c.1925C>G
c.1792C>G
c.2057C>G (n.2057C>G)
c.24992C>G (p.Ser8331Cys)
n.2955C>G
c.4983C>G (n.4983C>G)
n.9899C>G
c.4086C>G (n.4086C>G)
n.9791C>G
c.851-2643G>C (n.851-2643G>C)
n.2821C>G
n.6844C>G
n.2985C>G
c.2672C>G (p.Ser891Cys)
c.26354C>G (p.Ser8785Cys)
c.26342C>G (p.Ser8781Cys)
c.26333C>G (p.Ser8778Cys)
c.26312C>G (p.Ser8771Cys)
c.26303C>G (p.Ser8768Cys)
c.26297C>G (p.Ser8766Cys)
c.26285C>G (p.Ser8762Cys)
c.26282C>G (p.Ser8761Cys)
c.26243C>G (p.Ser8748Cys)
c.26228C>G (p.Ser8743Cys)
c.26213C>G (p.Ser8738Cys)
c.26201C>G (p.Ser8734Cys)
c.26198C>G (p.Ser8733Cys)
c.26195C>G (p.Ser8732Cys)
c.*18C>G (n.*18C>G)
c.26351C>G (p.Ser8784Cys)
c.26339C>G (p.Ser8780Cys)
c.26189C>G (p.Ser8730Cys)
c.24629C>G (p.Ser8210Cys)
c.24122C>G (p.Ser8041Cys)
c.19589C>G (p.Ser6530Cys)
c.26327C>G (p.Ser8776Cys)
c.26276C>G (p.Ser8759Cys)
c.26240C>G (p.Ser8747Cys)
c.26087C>G (p.Ser8696Cys)
 gnomAD v4
6g.152122623G=CA1673189139ESR1,SYNE1c.2741C= (p.Ser914=)
c.26207C= (p.Ser8736=)
c.26063C= (p.Ser8688=)
c.1550C=
c.1925C=
c.1792C=
c.2057C= (n.2057C=)
c.24992C= (p.Ser8331=)
n.2955C=
c.4983C= (n.4983C=)
n.9899C=
c.4086C= (n.4086C=)
n.9791C=
c.851-2643G= (n.851-2643G=)
n.2821C=
n.6844C=
n.2985C=
c.2672C= (p.Ser891=)
c.26354C= (p.Ser8785=)
c.26342C= (p.Ser8781=)
c.26333C= (p.Ser8778=)
c.26312C= (p.Ser8771=)
c.26303C= (p.Ser8768=)
c.26297C= (p.Ser8766=)
c.26285C= (p.Ser8762=)
c.26282C= (p.Ser8761=)
c.26243C= (p.Ser8748=)
c.26228C= (p.Ser8743=)
c.26213C= (p.Ser8738=)
c.26201C= (p.Ser8734=)
c.26198C= (p.Ser8733=)
c.26195C= (p.Ser8732=)
c.*18C= (n.*18C=)
c.26351C= (p.Ser8784=)
c.26339C= (p.Ser8780=)
c.26189C= (p.Ser8730=)
c.24629C= (p.Ser8210=)
c.24122C= (p.Ser8041=)
c.19589C= (p.Ser6530=)
c.26327C= (p.Ser8776=)
c.26276C= (p.Ser8759=)
c.26240C= (p.Ser8747=)
c.26087C= (p.Ser8696=)
6g.152122623G>TCA366089139ESR1,SYNE1c.2741C>A (p.Ser914Tyr)
c.26207C>A (p.Ser8736Tyr)
c.26063C>A (p.Ser8688Tyr)
c.1550C>A
c.1925C>A
c.1792C>A
c.2057C>A (n.2057C>A)
c.24992C>A (p.Ser8331Tyr)
n.2955C>A
c.4983C>A (n.4983C>A)
n.9899C>A
c.4086C>A (n.4086C>A)
n.9791C>A
c.851-2643G>T (n.851-2643G>T)
n.2821C>A
n.6844C>A
n.2985C>A
c.2672C>A (p.Ser891Tyr)
c.26354C>A (p.Ser8785Tyr)
c.26342C>A (p.Ser8781Tyr)
c.26333C>A (p.Ser8778Tyr)
c.26312C>A (p.Ser8771Tyr)
c.26303C>A (p.Ser8768Tyr)
c.26297C>A (p.Ser8766Tyr)
c.26285C>A (p.Ser8762Tyr)
c.26282C>A (p.Ser8761Tyr)
c.26243C>A (p.Ser8748Tyr)
c.26228C>A (p.Ser8743Tyr)
c.26213C>A (p.Ser8738Tyr)
c.26201C>A (p.Ser8734Tyr)
c.26198C>A (p.Ser8733Tyr)
c.26195C>A (p.Ser8732Tyr)
c.*18C>A (n.*18C>A)
c.26351C>A (p.Ser8784Tyr)
c.26339C>A (p.Ser8780Tyr)
c.26189C>A (p.Ser8730Tyr)
c.24629C>A (p.Ser8210Tyr)
c.24122C>A (p.Ser8041Tyr)
c.19589C>A (p.Ser6530Tyr)
c.26327C>A (p.Ser8776Tyr)
c.26276C>A (p.Ser8759Tyr)
c.26240C>A (p.Ser8747Tyr)
c.26087C>A (p.Ser8696Tyr)
 ClinVar dbSNP
6g.152122624A=CA1673189156ESR1,SYNE1c.2740T= (p.Ser914=)
c.26206T= (p.Ser8736=)
c.26062T= (p.Ser8688=)
c.1549T=
c.1924T=
c.1791T=
c.2056T= (n.2056T=)
c.24991T= (p.Ser8331=)
n.2954T=
c.4982T= (n.4982T=)
n.9898T=
c.4085T= (n.4085T=)
n.9790T=
c.851-2642A= (n.851-2642A=)
n.2820T=
n.6843T=
n.2984T=
c.2671T= (p.Ser891=)
c.26353T= (p.Ser8785=)
c.26341T= (p.Ser8781=)
c.26332T= (p.Ser8778=)
c.26311T= (p.Ser8771=)
c.26302T= (p.Ser8768=)
c.26296T= (p.Ser8766=)
c.26284T= (p.Ser8762=)
c.26281T= (p.Ser8761=)
c.26242T= (p.Ser8748=)
c.26227T= (p.Ser8743=)
c.26212T= (p.Ser8738=)
c.26200T= (p.Ser8734=)
c.26197T= (p.Ser8733=)
c.26194T= (p.Ser8732=)
c.*17T= (n.*17T=)
c.26350T= (p.Ser8784=)
c.26338T= (p.Ser8780=)
c.26188T= (p.Ser8730=)
c.24628T= (p.Ser8210=)
c.24121T= (p.Ser8041=)
c.19588T= (p.Ser6530=)
c.26326T= (p.Ser8776=)
c.26275T= (p.Ser8759=)
c.26239T= (p.Ser8747=)
c.26086T= (p.Ser8696=)
6g.152122624A>CCA10606609ESR1,SYNE1c.2740T>G (p.Ser914Ala)
c.26206T>G (p.Ser8736Ala)
c.26062T>G (p.Ser8688Ala)
c.1549T>G
c.1924T>G
c.1791T>G
c.2056T>G (n.2056T>G)
c.24991T>G (p.Ser8331Ala)
n.2954T>G
c.4982T>G (n.4982T>G)
n.9898T>G
c.4085T>G (n.4085T>G)
n.9790T>G
c.851-2642A>C (n.851-2642A>C)
n.2820T>G
n.6843T>G
n.2984T>G
c.2671T>G (p.Ser891Ala)
c.26353T>G (p.Ser8785Ala)
c.26341T>G (p.Ser8781Ala)
c.26332T>G (p.Ser8778Ala)
c.26311T>G (p.Ser8771Ala)
c.26302T>G (p.Ser8768Ala)
c.26296T>G (p.Ser8766Ala)
c.26284T>G (p.Ser8762Ala)
c.26281T>G (p.Ser8761Ala)
c.26242T>G (p.Ser8748Ala)
c.26227T>G (p.Ser8743Ala)
c.26212T>G (p.Ser8738Ala)
c.26200T>G (p.Ser8734Ala)
c.26197T>G (p.Ser8733Ala)
c.26194T>G (p.Ser8732Ala)
c.*17T>G (n.*17T>G)
c.26350T>G (p.Ser8784Ala)
c.26338T>G (p.Ser8780Ala)
c.26188T>G (p.Ser8730Ala)
c.24628T>G (p.Ser8210Ala)
c.24121T>G (p.Ser8041Ala)
c.19588T>G (p.Ser6530Ala)
c.26326T>G (p.Ser8776Ala)
c.26275T>G (p.Ser8759Ala)
c.26239T>G (p.Ser8747Ala)
c.26086T>G (p.Ser8696Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152122624A>GCA366089142ESR1,SYNE1c.2740T>C (p.Ser914Pro)
c.26206T>C (p.Ser8736Pro)
c.26062T>C (p.Ser8688Pro)
c.1549T>C
c.1924T>C
c.1791T>C
c.2056T>C (n.2056T>C)
c.24991T>C (p.Ser8331Pro)
n.2954T>C
c.4982T>C (n.4982T>C)
n.9898T>C
c.4085T>C (n.4085T>C)
n.9790T>C
c.851-2642A>G (n.851-2642A>G)
n.2820T>C
n.6843T>C
n.2984T>C
c.2671T>C (p.Ser891Pro)
c.26353T>C (p.Ser8785Pro)
c.26341T>C (p.Ser8781Pro)
c.26332T>C (p.Ser8778Pro)
c.26311T>C (p.Ser8771Pro)
c.26302T>C (p.Ser8768Pro)
c.26296T>C (p.Ser8766Pro)
c.26284T>C (p.Ser8762Pro)
c.26281T>C (p.Ser8761Pro)
c.26242T>C (p.Ser8748Pro)
c.26227T>C (p.Ser8743Pro)
c.26212T>C (p.Ser8738Pro)
c.26200T>C (p.Ser8734Pro)
c.26197T>C (p.Ser8733Pro)
c.26194T>C (p.Ser8732Pro)
c.*17T>C (n.*17T>C)
c.26350T>C (p.Ser8784Pro)
c.26338T>C (p.Ser8780Pro)
c.26188T>C (p.Ser8730Pro)
c.24628T>C (p.Ser8210Pro)
c.24121T>C (p.Ser8041Pro)
c.19588T>C (p.Ser6530Pro)
c.26326T>C (p.Ser8776Pro)
c.26275T>C (p.Ser8759Pro)
c.26239T>C (p.Ser8747Pro)
c.26086T>C (p.Ser8696Pro)
6g.152122624A>TCA366089144ESR1,SYNE1c.2740T>A (p.Ser914Thr)
c.26206T>A (p.Ser8736Thr)
c.26062T>A (p.Ser8688Thr)
c.1549T>A
c.1924T>A
c.1791T>A
c.2056T>A (n.2056T>A)
c.24991T>A (p.Ser8331Thr)
n.2954T>A
c.4982T>A (n.4982T>A)
n.9898T>A
c.4085T>A (n.4085T>A)
n.9790T>A
c.851-2642A>T (n.851-2642A>T)
n.2820T>A
n.6843T>A
n.2984T>A
c.2671T>A (p.Ser891Thr)
c.26353T>A (p.Ser8785Thr)
c.26341T>A (p.Ser8781Thr)
c.26332T>A (p.Ser8778Thr)
c.26311T>A (p.Ser8771Thr)
c.26302T>A (p.Ser8768Thr)
c.26296T>A (p.Ser8766Thr)
c.26284T>A (p.Ser8762Thr)
c.26281T>A (p.Ser8761Thr)
c.26242T>A (p.Ser8748Thr)
c.26227T>A (p.Ser8743Thr)
c.26212T>A (p.Ser8738Thr)
c.26200T>A (p.Ser8734Thr)
c.26197T>A (p.Ser8733Thr)
c.26194T>A (p.Ser8732Thr)
c.*17T>A (n.*17T>A)
c.26350T>A (p.Ser8784Thr)
c.26338T>A (p.Ser8780Thr)
c.26188T>A (p.Ser8730Thr)
c.24628T>A (p.Ser8210Thr)
c.24121T>A (p.Ser8041Thr)
c.19588T>A (p.Ser6530Thr)
c.26326T>A (p.Ser8776Thr)
c.26275T>A (p.Ser8759Thr)
c.26239T>A (p.Ser8747Thr)
c.26086T>A (p.Ser8696Thr)
6g.152122625C>ACA4052607ESR1,SYNE1c.2739G>T (p.Arg913=)
c.26205G>T (p.Arg8735=)
c.26061G>T (p.Arg8687=)
c.1548G>T
c.1923G>T
c.1790G>T
c.2055G>T (n.2055G>T)
c.24990G>T (p.Arg8330=)
n.2953G>T
c.4981G>T (n.4981G>T)
n.9897G>T
c.4084G>T (n.4084G>T)
n.9789G>T
c.851-2641C>A (n.851-2641C>A)
n.2819G>T
n.6842G>T
n.2983G>T
c.2670G>T (p.Arg890=)
c.26352G>T (p.Arg8784=)
c.26340G>T (p.Arg8780=)
c.26331G>T (p.Arg8777=)
c.26310G>T (p.Arg8770=)
c.26301G>T (p.Arg8767=)
c.26295G>T (p.Arg8765=)
c.26283G>T (p.Arg8761=)
c.26280G>T (p.Arg8760=)
c.26241G>T (p.Arg8747=)
c.26226G>T (p.Arg8742=)
c.26211G>T (p.Arg8737=)
c.26199G>T (p.Arg8733=)
c.26196G>T (p.Arg8732=)
c.26193G>T (p.Arg8731=)
c.*16G>T (n.*16G>T)
c.26349G>T (p.Arg8783=)
c.26337G>T (p.Arg8779=)
c.26187G>T (p.Arg8729=)
c.24627G>T (p.Arg8209=)
c.24120G>T (p.Arg8040=)
c.19587G>T (p.Arg6529=)
c.26325G>T (p.Arg8775=)
c.26274G>T (p.Arg8758=)
c.26238G>T (p.Arg8746=)
c.26085G>T (p.Arg8695=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122625C=CA1673189169ESR1,SYNE1c.2739G= (p.Arg913=)
c.26205G= (p.Arg8735=)
c.26061G= (p.Arg8687=)
c.1548G=
c.1923G=
c.1790G=
c.2055G= (n.2055G=)
c.24990G= (p.Arg8330=)
n.2953G=
c.4981G= (n.4981G=)
n.9897G=
c.4084G= (n.4084G=)
n.9789G=
c.851-2641C= (n.851-2641C=)
n.2819G=
n.6842G=
n.2983G=
c.2670G= (p.Arg890=)
c.26352G= (p.Arg8784=)
c.26340G= (p.Arg8780=)
c.26331G= (p.Arg8777=)
c.26310G= (p.Arg8770=)
c.26301G= (p.Arg8767=)
c.26295G= (p.Arg8765=)
c.26283G= (p.Arg8761=)
c.26280G= (p.Arg8760=)
c.26241G= (p.Arg8747=)
c.26226G= (p.Arg8742=)
c.26211G= (p.Arg8737=)
c.26199G= (p.Arg8733=)
c.26196G= (p.Arg8732=)
c.26193G= (p.Arg8731=)
c.*16G= (n.*16G=)
c.26349G= (p.Arg8783=)
c.26337G= (p.Arg8779=)
c.26187G= (p.Arg8729=)
c.24627G= (p.Arg8209=)
c.24120G= (p.Arg8040=)
c.19587G= (p.Arg6529=)
c.26325G= (p.Arg8775=)
c.26274G= (p.Arg8758=)
c.26238G= (p.Arg8746=)
c.26085G= (p.Arg8695=)
6g.152122625C>GCA452969665ESR1,SYNE1c.2739G>C (p.Arg913=)
c.26205G>C (p.Arg8735=)
c.26061G>C (p.Arg8687=)
c.1548G>C
c.1923G>C
c.1790G>C
c.2055G>C (n.2055G>C)
c.24990G>C (p.Arg8330=)
n.2953G>C
c.4981G>C (n.4981G>C)
n.9897G>C
c.4084G>C (n.4084G>C)
n.9789G>C
c.851-2641C>G (n.851-2641C>G)
n.2819G>C
n.6842G>C
n.2983G>C
c.2670G>C (p.Arg890=)
c.26352G>C (p.Arg8784=)
c.26340G>C (p.Arg8780=)
c.26331G>C (p.Arg8777=)
c.26310G>C (p.Arg8770=)
c.26301G>C (p.Arg8767=)
c.26295G>C (p.Arg8765=)
c.26283G>C (p.Arg8761=)
c.26280G>C (p.Arg8760=)
c.26241G>C (p.Arg8747=)
c.26226G>C (p.Arg8742=)
c.26211G>C (p.Arg8737=)
c.26199G>C (p.Arg8733=)
c.26196G>C (p.Arg8732=)
c.26193G>C (p.Arg8731=)
c.*16G>C (n.*16G>C)
c.26349G>C (p.Arg8783=)
c.26337G>C (p.Arg8779=)
c.26187G>C (p.Arg8729=)
c.24627G>C (p.Arg8209=)
c.24120G>C (p.Arg8040=)
c.19587G>C (p.Arg6529=)
c.26325G>C (p.Arg8775=)
c.26274G>C (p.Arg8758=)
c.26238G>C (p.Arg8746=)
c.26085G>C (p.Arg8695=)
6g.152122625C>TCA452969666ESR1,SYNE1c.2739G>A (p.Arg913=)
c.26205G>A (p.Arg8735=)
c.26061G>A (p.Arg8687=)
c.1548G>A
c.1923G>A
c.1790G>A
c.2055G>A (n.2055G>A)
c.24990G>A (p.Arg8330=)
n.2953G>A
c.4981G>A (n.4981G>A)
n.9897G>A
c.4084G>A (n.4084G>A)
n.9789G>A
c.851-2641C>T (n.851-2641C>T)
n.2819G>A
n.6842G>A
n.2983G>A
c.2670G>A (p.Arg890=)
c.26352G>A (p.Arg8784=)
c.26340G>A (p.Arg8780=)
c.26331G>A (p.Arg8777=)
c.26310G>A (p.Arg8770=)
c.26301G>A (p.Arg8767=)
c.26295G>A (p.Arg8765=)
c.26283G>A (p.Arg8761=)
c.26280G>A (p.Arg8760=)
c.26241G>A (p.Arg8747=)
c.26226G>A (p.Arg8742=)
c.26211G>A (p.Arg8737=)
c.26199G>A (p.Arg8733=)
c.26196G>A (p.Arg8732=)
c.26193G>A (p.Arg8731=)
c.*16G>A (n.*16G>A)
c.26349G>A (p.Arg8783=)
c.26337G>A (p.Arg8779=)
c.26187G>A (p.Arg8729=)
c.24627G>A (p.Arg8209=)
c.24120G>A (p.Arg8040=)
c.19587G>A (p.Arg6529=)
c.26325G>A (p.Arg8775=)
c.26274G>A (p.Arg8758=)
c.26238G>A (p.Arg8746=)
c.26085G>A (p.Arg8695=)
 dbSNP gnomAD v2 gnomAD v4
6g.152122626C>ACA4052608ESR1,SYNE1c.2738G>T (p.Arg913Leu)
c.26204G>T (p.Arg8735Leu)
c.26060G>T (p.Arg8687Leu)
c.1547G>T
c.1922G>T
c.1789G>T
c.2054G>T (n.2054G>T)
c.24989G>T (p.Arg8330Leu)
n.2952G>T
c.4980G>T (n.4980G>T)
n.9896G>T
c.4083G>T (n.4083G>T)
n.9788G>T
c.851-2640C>A (n.851-2640C>A)
n.2818G>T
n.6841G>T
n.2982G>T
c.2669G>T (p.Arg890Leu)
c.26351G>T (p.Arg8784Leu)
c.26339G>T (p.Arg8780Leu)
c.26330G>T (p.Arg8777Leu)
c.26309G>T (p.Arg8770Leu)
c.26300G>T (p.Arg8767Leu)
c.26294G>T (p.Arg8765Leu)
c.26282G>T (p.Arg8761Leu)
c.26279G>T (p.Arg8760Leu)
c.26240G>T (p.Arg8747Leu)
c.26225G>T (p.Arg8742Leu)
c.26210G>T (p.Arg8737Leu)
c.26198G>T (p.Arg8733Leu)
c.26195G>T (p.Arg8732Leu)
c.26192G>T (p.Arg8731Leu)
c.*15G>T (n.*15G>T)
c.26348G>T (p.Arg8783Leu)
c.26336G>T (p.Arg8779Leu)
c.26186G>T (p.Arg8729Leu)
c.24626G>T (p.Arg8209Leu)
c.24119G>T (p.Arg8040Leu)
c.19586G>T (p.Arg6529Leu)
c.26324G>T (p.Arg8775Leu)
c.26273G>T (p.Arg8758Leu)
c.26237G>T (p.Arg8746Leu)
c.26084G>T (p.Arg8695Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122626C=CA1673189184ESR1,SYNE1c.2738G= (p.Arg913=)
c.26204G= (p.Arg8735=)
c.26060G= (p.Arg8687=)
c.1547G=
c.1922G=
c.1789G=
c.2054G= (n.2054G=)
c.24989G= (p.Arg8330=)
n.2952G=
c.4980G= (n.4980G=)
n.9896G=
c.4083G= (n.4083G=)
n.9788G=
c.851-2640C= (n.851-2640C=)
n.2818G=
n.6841G=
n.2982G=
c.2669G= (p.Arg890=)
c.26351G= (p.Arg8784=)
c.26339G= (p.Arg8780=)
c.26330G= (p.Arg8777=)
c.26309G= (p.Arg8770=)
c.26300G= (p.Arg8767=)
c.26294G= (p.Arg8765=)
c.26282G= (p.Arg8761=)
c.26279G= (p.Arg8760=)
c.26240G= (p.Arg8747=)
c.26225G= (p.Arg8742=)
c.26210G= (p.Arg8737=)
c.26198G= (p.Arg8733=)
c.26195G= (p.Arg8732=)
c.26192G= (p.Arg8731=)
c.*15G= (n.*15G=)
c.26348G= (p.Arg8783=)
c.26336G= (p.Arg8779=)
c.26186G= (p.Arg8729=)
c.24626G= (p.Arg8209=)
c.24119G= (p.Arg8040=)
c.19586G= (p.Arg6529=)
c.26324G= (p.Arg8775=)
c.26273G= (p.Arg8758=)
c.26237G= (p.Arg8746=)
c.26084G= (p.Arg8695=)
6g.152122626C>GCA366089147ESR1,SYNE1c.2738G>C (p.Arg913Pro)
c.26204G>C (p.Arg8735Pro)
c.26060G>C (p.Arg8687Pro)
c.1547G>C
c.1922G>C
c.1789G>C
c.2054G>C (n.2054G>C)
c.24989G>C (p.Arg8330Pro)
n.2952G>C
c.4980G>C (n.4980G>C)
n.9896G>C
c.4083G>C (n.4083G>C)
n.9788G>C
c.851-2640C>G (n.851-2640C>G)
n.2818G>C
n.6841G>C
n.2982G>C
c.2669G>C (p.Arg890Pro)
c.26351G>C (p.Arg8784Pro)
c.26339G>C (p.Arg8780Pro)
c.26330G>C (p.Arg8777Pro)
c.26309G>C (p.Arg8770Pro)
c.26300G>C (p.Arg8767Pro)
c.26294G>C (p.Arg8765Pro)
c.26282G>C (p.Arg8761Pro)
c.26279G>C (p.Arg8760Pro)
c.26240G>C (p.Arg8747Pro)
c.26225G>C (p.Arg8742Pro)
c.26210G>C (p.Arg8737Pro)
c.26198G>C (p.Arg8733Pro)
c.26195G>C (p.Arg8732Pro)
c.26192G>C (p.Arg8731Pro)
c.*15G>C (n.*15G>C)
c.26348G>C (p.Arg8783Pro)
c.26336G>C (p.Arg8779Pro)
c.26186G>C (p.Arg8729Pro)
c.24626G>C (p.Arg8209Pro)
c.24119G>C (p.Arg8040Pro)
c.19586G>C (p.Arg6529Pro)
c.26324G>C (p.Arg8775Pro)
c.26273G>C (p.Arg8758Pro)
c.26237G>C (p.Arg8746Pro)
c.26084G>C (p.Arg8695Pro)
 dbSNP gnomAD v3 gnomAD v4
6g.152122626C>TCA155446ESR1,SYNE1c.2738G>A (p.Arg913Gln)
c.26204G>A (p.Arg8735Gln)
c.26060G>A (p.Arg8687Gln)
c.1547G>A
c.1922G>A
c.1789G>A
c.2054G>A (n.2054G>A)
c.24989G>A (p.Arg8330Gln)
n.2952G>A
c.4980G>A (n.4980G>A)
n.9896G>A
c.4083G>A (n.4083G>A)
n.9788G>A
c.851-2640C>T (n.851-2640C>T)
n.2818G>A
n.6841G>A
n.2982G>A
c.2669G>A (p.Arg890Gln)
c.26351G>A (p.Arg8784Gln)
c.26339G>A (p.Arg8780Gln)
c.26330G>A (p.Arg8777Gln)
c.26309G>A (p.Arg8770Gln)
c.26300G>A (p.Arg8767Gln)
c.26294G>A (p.Arg8765Gln)
c.26282G>A (p.Arg8761Gln)
c.26279G>A (p.Arg8760Gln)
c.26240G>A (p.Arg8747Gln)
c.26225G>A (p.Arg8742Gln)
c.26210G>A (p.Arg8737Gln)
c.26198G>A (p.Arg8733Gln)
c.26195G>A (p.Arg8732Gln)
c.26192G>A (p.Arg8731Gln)
c.*15G>A (n.*15G>A)
c.26348G>A (p.Arg8783Gln)
c.26336G>A (p.Arg8779Gln)
c.26186G>A (p.Arg8729Gln)
c.24626G>A (p.Arg8209Gln)
c.24119G>A (p.Arg8040Gln)
c.19586G>A (p.Arg6529Gln)
c.26324G>A (p.Arg8775Gln)
c.26273G>A (p.Arg8758Gln)
c.26237G>A (p.Arg8746Gln)
c.26084G>A (p.Arg8695Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122627G>ACA4052609ESR1,SYNE1c.2737C>T (p.Arg913Trp)
c.26203C>T (p.Arg8735Trp)
c.26059C>T (p.Arg8687Trp)
c.1546C>T
c.1921C>T
c.1788C>T
c.2053C>T (n.2053C>T)
c.24988C>T (p.Arg8330Trp)
n.2951C>T
c.4979C>T (n.4979C>T)
n.9895C>T
c.4082C>T (n.4082C>T)
n.9787C>T
c.851-2639G>A (n.851-2639G>A)
n.2817C>T
n.6840C>T
n.2981C>T
c.2668C>T (p.Arg890Trp)
c.26350C>T (p.Arg8784Trp)
c.26338C>T (p.Arg8780Trp)
c.26329C>T (p.Arg8777Trp)
c.26308C>T (p.Arg8770Trp)
c.26299C>T (p.Arg8767Trp)
c.26293C>T (p.Arg8765Trp)
c.26281C>T (p.Arg8761Trp)
c.26278C>T (p.Arg8760Trp)
c.26239C>T (p.Arg8747Trp)
c.26224C>T (p.Arg8742Trp)
c.26209C>T (p.Arg8737Trp)
c.26197C>T (p.Arg8733Trp)
c.26194C>T (p.Arg8732Trp)
c.26191C>T (p.Arg8731Trp)
c.*14C>T (n.*14C>T)
c.26347C>T (p.Arg8783Trp)
c.26335C>T (p.Arg8779Trp)
c.26185C>T (p.Arg8729Trp)
c.24625C>T (p.Arg8209Trp)
c.24118C>T (p.Arg8040Trp)
c.19585C>T (p.Arg6529Trp)
c.26323C>T (p.Arg8775Trp)
c.26272C>T (p.Arg8758Trp)
c.26236C>T (p.Arg8746Trp)
c.26083C>T (p.Arg8695Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
6g.152122627G>CCA366089151ESR1,SYNE1c.2737C>G (p.Arg913Gly)
c.26203C>G (p.Arg8735Gly)
c.26059C>G (p.Arg8687Gly)
c.1546C>G
c.1921C>G
c.1788C>G
c.2053C>G (n.2053C>G)
c.24988C>G (p.Arg8330Gly)
n.2951C>G
c.4979C>G (n.4979C>G)
n.9895C>G
c.4082C>G (n.4082C>G)
n.9787C>G
c.851-2639G>C (n.851-2639G>C)
n.2817C>G
n.6840C>G
n.2981C>G
c.2668C>G (p.Arg890Gly)
c.26350C>G (p.Arg8784Gly)
c.26338C>G (p.Arg8780Gly)
c.26329C>G (p.Arg8777Gly)
c.26308C>G (p.Arg8770Gly)
c.26299C>G (p.Arg8767Gly)
c.26293C>G (p.Arg8765Gly)
c.26281C>G (p.Arg8761Gly)
c.26278C>G (p.Arg8760Gly)
c.26239C>G (p.Arg8747Gly)
c.26224C>G (p.Arg8742Gly)
c.26209C>G (p.Arg8737Gly)
c.26197C>G (p.Arg8733Gly)
c.26194C>G (p.Arg8732Gly)
c.26191C>G (p.Arg8731Gly)
c.*14C>G (n.*14C>G)
c.26347C>G (p.Arg8783Gly)
c.26335C>G (p.Arg8779Gly)
c.26185C>G (p.Arg8729Gly)
c.24625C>G (p.Arg8209Gly)
c.24118C>G (p.Arg8040Gly)
c.19585C>G (p.Arg6529Gly)
c.26323C>G (p.Arg8775Gly)
c.26272C>G (p.Arg8758Gly)
c.26236C>G (p.Arg8746Gly)
c.26083C>G (p.Arg8695Gly)
 gnomAD v4
6g.152122627G=CA1673189195ESR1,SYNE1c.2737C= (p.Arg913=)
c.26203C= (p.Arg8735=)
c.26059C= (p.Arg8687=)
c.1546C=
c.1921C=
c.1788C=
c.2053C= (n.2053C=)
c.24988C= (p.Arg8330=)
n.2951C=
c.4979C= (n.4979C=)
n.9895C=
c.4082C= (n.4082C=)
n.9787C=
c.851-2639G= (n.851-2639G=)
n.2817C=
n.6840C=
n.2981C=
c.2668C= (p.Arg890=)
c.26350C= (p.Arg8784=)
c.26338C= (p.Arg8780=)
c.26329C= (p.Arg8777=)
c.26308C= (p.Arg8770=)
c.26299C= (p.Arg8767=)
c.26293C= (p.Arg8765=)
c.26281C= (p.Arg8761=)
c.26278C= (p.Arg8760=)
c.26239C= (p.Arg8747=)
c.26224C= (p.Arg8742=)
c.26209C= (p.Arg8737=)
c.26197C= (p.Arg8733=)
c.26194C= (p.Arg8732=)
c.26191C= (p.Arg8731=)
c.*14C= (n.*14C=)
c.26347C= (p.Arg8783=)
c.26335C= (p.Arg8779=)
c.26185C= (p.Arg8729=)
c.24625C= (p.Arg8209=)
c.24118C= (p.Arg8040=)
c.19585C= (p.Arg6529=)
c.26323C= (p.Arg8775=)
c.26272C= (p.Arg8758=)
c.26236C= (p.Arg8746=)
c.26083C= (p.Arg8695=)
6g.152122627G>TCA452969667ESR1,SYNE1c.2737C>A (p.Arg913=)
c.26203C>A (p.Arg8735=)
c.26059C>A (p.Arg8687=)
c.1546C>A
c.1921C>A
c.1788C>A
c.2053C>A (n.2053C>A)
c.24988C>A (p.Arg8330=)
n.2951C>A
c.4979C>A (n.4979C>A)
n.9895C>A
c.4082C>A (n.4082C>A)
n.9787C>A
c.851-2639G>T (n.851-2639G>T)
n.2817C>A
n.6840C>A
n.2981C>A
c.2668C>A (p.Arg890=)
c.26350C>A (p.Arg8784=)
c.26338C>A (p.Arg8780=)
c.26329C>A (p.Arg8777=)
c.26308C>A (p.Arg8770=)
c.26299C>A (p.Arg8767=)
c.26293C>A (p.Arg8765=)
c.26281C>A (p.Arg8761=)
c.26278C>A (p.Arg8760=)
c.26239C>A (p.Arg8747=)
c.26224C>A (p.Arg8742=)
c.26209C>A (p.Arg8737=)
c.26197C>A (p.Arg8733=)
c.26194C>A (p.Arg8732=)
c.26191C>A (p.Arg8731=)
c.*14C>A (n.*14C>A)
c.26347C>A (p.Arg8783=)
c.26335C>A (p.Arg8779=)
c.26185C>A (p.Arg8729=)
c.24625C>A (p.Arg8209=)
c.24118C>A (p.Arg8040=)
c.19585C>A (p.Arg6529=)
c.26323C>A (p.Arg8775=)
c.26272C>A (p.Arg8758=)
c.26236C>A (p.Arg8746=)
c.26083C>A (p.Arg8695=)
 gnomAD v4
6g.152122628A>CCA452969670ESR1,SYNE1c.2736T>G (p.Gly912=)
c.26202T>G (p.Gly8734=)
c.26058T>G (p.Gly8686=)
c.1545T>G
c.1920T>G
c.1787T>G
c.2052T>G (n.2052T>G)
c.24987T>G (p.Gly8329=)
n.2950T>G
c.4978T>G (n.4978T>G)
n.9894T>G
c.4081T>G (n.4081T>G)
n.9786T>G
c.851-2638A>C (n.851-2638A>C)
n.2816T>G
n.6839T>G
n.2980T>G
c.2667T>G (p.Gly889=)
c.26349T>G (p.Gly8783=)
c.26337T>G (p.Gly8779=)
c.26328T>G (p.Gly8776=)
c.26307T>G (p.Gly8769=)
c.26298T>G (p.Gly8766=)
c.26292T>G (p.Gly8764=)
c.26280T>G (p.Gly8760=)
c.26277T>G (p.Gly8759=)
c.26238T>G (p.Gly8746=)
c.26223T>G (p.Gly8741=)
c.26208T>G (p.Gly8736=)
c.26196T>G (p.Gly8732=)
c.26193T>G (p.Gly8731=)
c.26190T>G (p.Gly8730=)
c.*13T>G (n.*13T>G)
c.26346T>G (p.Gly8782=)
c.26334T>G (p.Gly8778=)
c.26184T>G (p.Gly8728=)
c.24624T>G (p.Gly8208=)
c.24117T>G (p.Gly8039=)
c.19584T>G (p.Gly6528=)
c.26322T>G (p.Gly8774=)
c.26271T>G (p.Gly8757=)
c.26235T>G (p.Gly8745=)
c.26082T>G (p.Gly8694=)
6g.152122628A>GCA452969669ESR1,SYNE1c.2736T>C (p.Gly912=)
c.26202T>C (p.Gly8734=)
c.26058T>C (p.Gly8686=)
c.1545T>C
c.1920T>C
c.1787T>C
c.2052T>C (n.2052T>C)
c.24987T>C (p.Gly8329=)
n.2950T>C
c.4978T>C (n.4978T>C)
n.9894T>C
c.4081T>C (n.4081T>C)
n.9786T>C
c.851-2638A>G (n.851-2638A>G)
n.2816T>C
n.6839T>C
n.2980T>C
c.2667T>C (p.Gly889=)
c.26349T>C (p.Gly8783=)
c.26337T>C (p.Gly8779=)
c.26328T>C (p.Gly8776=)
c.26307T>C (p.Gly8769=)
c.26298T>C (p.Gly8766=)
c.26292T>C (p.Gly8764=)
c.26280T>C (p.Gly8760=)
c.26277T>C (p.Gly8759=)
c.26238T>C (p.Gly8746=)
c.26223T>C (p.Gly8741=)
c.26208T>C (p.Gly8736=)
c.26196T>C (p.Gly8732=)
c.26193T>C (p.Gly8731=)
c.26190T>C (p.Gly8730=)
c.*13T>C (n.*13T>C)
c.26346T>C (p.Gly8782=)
c.26334T>C (p.Gly8778=)
c.26184T>C (p.Gly8728=)
c.24624T>C (p.Gly8208=)
c.24117T>C (p.Gly8039=)
c.19584T>C (p.Gly6528=)
c.26322T>C (p.Gly8774=)
c.26271T>C (p.Gly8757=)
c.26235T>C (p.Gly8745=)
c.26082T>C (p.Gly8694=)
6g.152122628A>TCA452969672ESR1,SYNE1c.2736T>A (p.Gly912=)
c.26202T>A (p.Gly8734=)
c.26058T>A (p.Gly8686=)
c.1545T>A
c.1920T>A
c.1787T>A
c.2052T>A (n.2052T>A)
c.24987T>A (p.Gly8329=)
n.2950T>A
c.4978T>A (n.4978T>A)
n.9894T>A
c.4081T>A (n.4081T>A)
n.9786T>A
c.851-2638A>T (n.851-2638A>T)
n.2816T>A
n.6839T>A
n.2980T>A
c.2667T>A (p.Gly889=)
c.26349T>A (p.Gly8783=)
c.26337T>A (p.Gly8779=)
c.26328T>A (p.Gly8776=)
c.26307T>A (p.Gly8769=)
c.26298T>A (p.Gly8766=)
c.26292T>A (p.Gly8764=)
c.26280T>A (p.Gly8760=)
c.26277T>A (p.Gly8759=)
c.26238T>A (p.Gly8746=)
c.26223T>A (p.Gly8741=)
c.26208T>A (p.Gly8736=)
c.26196T>A (p.Gly8732=)
c.26193T>A (p.Gly8731=)
c.26190T>A (p.Gly8730=)
c.*13T>A (n.*13T>A)
c.26346T>A (p.Gly8782=)
c.26334T>A (p.Gly8778=)
c.26184T>A (p.Gly8728=)
c.24624T>A (p.Gly8208=)
c.24117T>A (p.Gly8039=)
c.19584T>A (p.Gly6528=)
c.26322T>A (p.Gly8774=)
c.26271T>A (p.Gly8757=)
c.26235T>A (p.Gly8745=)
c.26082T>A (p.Gly8694=)
6g.152122629C>ACA366089153ESR1,SYNE1c.2735G>T (p.Gly912Val)
c.26201G>T (p.Gly8734Val)
c.26057G>T (p.Gly8686Val)
c.1544G>T
c.1919G>T
c.1786G>T
c.2051G>T (n.2051G>T)
c.24986G>T (p.Gly8329Val)
n.2949G>T
c.4977G>T (n.4977G>T)
n.9893G>T
c.4080G>T (n.4080G>T)
n.9785G>T
c.851-2637C>A (n.851-2637C>A)
n.2815G>T
n.6838G>T
n.2979G>T
c.2666G>T (p.Gly889Val)
c.26348G>T (p.Gly8783Val)
c.26336G>T (p.Gly8779Val)
c.26327G>T (p.Gly8776Val)
c.26306G>T (p.Gly8769Val)
c.26297G>T (p.Gly8766Val)
c.26291G>T (p.Gly8764Val)
c.26279G>T (p.Gly8760Val)
c.26276G>T (p.Gly8759Val)
c.26237G>T (p.Gly8746Val)
c.26222G>T (p.Gly8741Val)
c.26207G>T (p.Gly8736Val)
c.26195G>T (p.Gly8732Val)
c.26192G>T (p.Gly8731Val)
c.26189G>T (p.Gly8730Val)
c.*12G>T (n.*12G>T)
c.26345G>T (p.Gly8782Val)
c.26333G>T (p.Gly8778Val)
c.26183G>T (p.Gly8728Val)
c.24623G>T (p.Gly8208Val)
c.24116G>T (p.Gly8039Val)
c.19583G>T (p.Gly6528Val)
c.26321G>T (p.Gly8774Val)
c.26270G>T (p.Gly8757Val)
c.26234G>T (p.Gly8745Val)
c.26081G>T (p.Gly8694Val)
6g.152122629C>GCA366089155ESR1,SYNE1c.2735G>C (p.Gly912Ala)
c.26201G>C (p.Gly8734Ala)
c.26057G>C (p.Gly8686Ala)
c.1544G>C
c.1919G>C
c.1786G>C
c.2051G>C (n.2051G>C)
c.24986G>C (p.Gly8329Ala)
n.2949G>C
c.4977G>C (n.4977G>C)
n.9893G>C
c.4080G>C (n.4080G>C)
n.9785G>C
c.851-2637C>G (n.851-2637C>G)
n.2815G>C
n.6838G>C
n.2979G>C
c.2666G>C (p.Gly889Ala)
c.26348G>C (p.Gly8783Ala)
c.26336G>C (p.Gly8779Ala)
c.26327G>C (p.Gly8776Ala)
c.26306G>C (p.Gly8769Ala)
c.26297G>C (p.Gly8766Ala)
c.26291G>C (p.Gly8764Ala)
c.26279G>C (p.Gly8760Ala)
c.26276G>C (p.Gly8759Ala)
c.26237G>C (p.Gly8746Ala)
c.26222G>C (p.Gly8741Ala)
c.26207G>C (p.Gly8736Ala)
c.26195G>C (p.Gly8732Ala)
c.26192G>C (p.Gly8731Ala)
c.26189G>C (p.Gly8730Ala)
c.*12G>C (n.*12G>C)
c.26345G>C (p.Gly8782Ala)
c.26333G>C (p.Gly8778Ala)
c.26183G>C (p.Gly8728Ala)
c.24623G>C (p.Gly8208Ala)
c.24116G>C (p.Gly8039Ala)
c.19583G>C (p.Gly6528Ala)
c.26321G>C (p.Gly8774Ala)
c.26270G>C (p.Gly8757Ala)
c.26234G>C (p.Gly8745Ala)
c.26081G>C (p.Gly8694Ala)
6g.152122629C>TCA366089157ESR1,SYNE1c.2735G>A (p.Gly912Asp)
c.26201G>A (p.Gly8734Asp)
c.26057G>A (p.Gly8686Asp)
c.1544G>A
c.1919G>A
c.1786G>A
c.2051G>A (n.2051G>A)
c.24986G>A (p.Gly8329Asp)
n.2949G>A
c.4977G>A (n.4977G>A)
n.9893G>A
c.4080G>A (n.4080G>A)
n.9785G>A
c.851-2637C>T (n.851-2637C>T)
n.2815G>A
n.6838G>A
n.2979G>A
c.2666G>A (p.Gly889Asp)
c.26348G>A (p.Gly8783Asp)
c.26336G>A (p.Gly8779Asp)
c.26327G>A (p.Gly8776Asp)
c.26306G>A (p.Gly8769Asp)
c.26297G>A (p.Gly8766Asp)
c.26291G>A (p.Gly8764Asp)
c.26279G>A (p.Gly8760Asp)
c.26276G>A (p.Gly8759Asp)
c.26237G>A (p.Gly8746Asp)
c.26222G>A (p.Gly8741Asp)
c.26207G>A (p.Gly8736Asp)
c.26195G>A (p.Gly8732Asp)
c.26192G>A (p.Gly8731Asp)
c.26189G>A (p.Gly8730Asp)
c.*12G>A (n.*12G>A)
c.26345G>A (p.Gly8782Asp)
c.26333G>A (p.Gly8778Asp)
c.26183G>A (p.Gly8728Asp)
c.24623G>A (p.Gly8208Asp)
c.24116G>A (p.Gly8039Asp)
c.19583G>A (p.Gly6528Asp)
c.26321G>A (p.Gly8774Asp)
c.26270G>A (p.Gly8757Asp)
c.26234G>A (p.Gly8745Asp)
c.26081G>A (p.Gly8694Asp)
6g.152122630C>ACA366089163ESR1,SYNE1c.2734G>T (p.Gly912Cys)
c.26200G>T (p.Gly8734Cys)
c.26056G>T (p.Gly8686Cys)
c.1543G>T
c.1918G>T
c.1785G>T
c.2050G>T (n.2050G>T)
c.24985G>T (p.Gly8329Cys)
n.2948G>T
c.4976G>T (n.4976G>T)
n.9892G>T
c.4079G>T (n.4079G>T)
n.9784G>T
c.851-2636C>A (n.851-2636C>A)
n.2814G>T
n.6837G>T
n.2978G>T
c.2665G>T (p.Gly889Cys)
c.26347G>T (p.Gly8783Cys)
c.26335G>T (p.Gly8779Cys)
c.26326G>T (p.Gly8776Cys)
c.26305G>T (p.Gly8769Cys)
c.26296G>T (p.Gly8766Cys)
c.26290G>T (p.Gly8764Cys)
c.26278G>T (p.Gly8760Cys)
c.26275G>T (p.Gly8759Cys)
c.26236G>T (p.Gly8746Cys)
c.26221G>T (p.Gly8741Cys)
c.26206G>T (p.Gly8736Cys)
c.26194G>T (p.Gly8732Cys)
c.26191G>T (p.Gly8731Cys)
c.26188G>T (p.Gly8730Cys)
c.*11G>T (n.*11G>T)
c.26344G>T (p.Gly8782Cys)
c.26332G>T (p.Gly8778Cys)
c.26182G>T (p.Gly8728Cys)
c.24622G>T (p.Gly8208Cys)
c.24115G>T (p.Gly8039Cys)
c.19582G>T (p.Gly6528Cys)
c.26320G>T (p.Gly8774Cys)
c.26269G>T (p.Gly8757Cys)
c.26233G>T (p.Gly8745Cys)
c.26080G>T (p.Gly8694Cys)
6g.152122630C>GCA366089162ESR1,SYNE1c.2734G>C (p.Gly912Arg)
c.26200G>C (p.Gly8734Arg)
c.26056G>C (p.Gly8686Arg)
c.1543G>C
c.1918G>C
c.1785G>C
c.2050G>C (n.2050G>C)
c.24985G>C (p.Gly8329Arg)
n.2948G>C
c.4976G>C (n.4976G>C)
n.9892G>C
c.4079G>C (n.4079G>C)
n.9784G>C
c.851-2636C>G (n.851-2636C>G)
n.2814G>C
n.6837G>C
n.2978G>C
c.2665G>C (p.Gly889Arg)
c.26347G>C (p.Gly8783Arg)
c.26335G>C (p.Gly8779Arg)
c.26326G>C (p.Gly8776Arg)
c.26305G>C (p.Gly8769Arg)
c.26296G>C (p.Gly8766Arg)
c.26290G>C (p.Gly8764Arg)
c.26278G>C (p.Gly8760Arg)
c.26275G>C (p.Gly8759Arg)
c.26236G>C (p.Gly8746Arg)
c.26221G>C (p.Gly8741Arg)
c.26206G>C (p.Gly8736Arg)
c.26194G>C (p.Gly8732Arg)
c.26191G>C (p.Gly8731Arg)
c.26188G>C (p.Gly8730Arg)
c.*11G>C (n.*11G>C)
c.26344G>C (p.Gly8782Arg)
c.26332G>C (p.Gly8778Arg)
c.26182G>C (p.Gly8728Arg)
c.24622G>C (p.Gly8208Arg)
c.24115G>C (p.Gly8039Arg)
c.19582G>C (p.Gly6528Arg)
c.26320G>C (p.Gly8774Arg)
c.26269G>C (p.Gly8757Arg)
c.26233G>C (p.Gly8745Arg)
c.26080G>C (p.Gly8694Arg)
6g.152122630C>TCA366089160ESR1,SYNE1c.2734G>A (p.Gly912Ser)
c.26200G>A (p.Gly8734Ser)
c.26056G>A (p.Gly8686Ser)
c.1543G>A
c.1918G>A
c.1785G>A
c.2050G>A (n.2050G>A)
c.24985G>A (p.Gly8329Ser)
n.2948G>A
c.4976G>A (n.4976G>A)
n.9892G>A
c.4079G>A (n.4079G>A)
n.9784G>A
c.851-2636C>T (n.851-2636C>T)
n.2814G>A
n.6837G>A
n.2978G>A
c.2665G>A (p.Gly889Ser)
c.26347G>A (p.Gly8783Ser)
c.26335G>A (p.Gly8779Ser)
c.26326G>A (p.Gly8776Ser)
c.26305G>A (p.Gly8769Ser)
c.26296G>A (p.Gly8766Ser)
c.26290G>A (p.Gly8764Ser)
c.26278G>A (p.Gly8760Ser)
c.26275G>A (p.Gly8759Ser)
c.26236G>A (p.Gly8746Ser)
c.26221G>A (p.Gly8741Ser)
c.26206G>A (p.Gly8736Ser)
c.26194G>A (p.Gly8732Ser)
c.26191G>A (p.Gly8731Ser)
c.26188G>A (p.Gly8730Ser)
c.*11G>A (n.*11G>A)
c.26344G>A (p.Gly8782Ser)
c.26332G>A (p.Gly8778Ser)
c.26182G>A (p.Gly8728Ser)
c.24622G>A (p.Gly8208Ser)
c.24115G>A (p.Gly8039Ser)
c.19582G>A (p.Gly6528Ser)
c.26320G>A (p.Gly8774Ser)
c.26269G>A (p.Gly8757Ser)
c.26233G>A (p.Gly8745Ser)
c.26080G>A (p.Gly8694Ser)
6g.152122631T>ACA452969675ESR1,SYNE1c.2733A>T (p.Pro911=)
c.26199A>T (p.Pro8733=)
c.26055A>T (p.Pro8685=)
c.1542A>T
c.1917A>T
c.1784A>T
c.2049A>T (n.2049A>T)
c.24984A>T (p.Pro8328=)
n.2947A>T
c.4975A>T (n.4975A>T)
n.9891A>T
c.4078A>T (n.4078A>T)
n.9783A>T
c.851-2635T>A (n.851-2635T>A)
n.2813A>T
n.6836A>T
n.2977A>T
c.2664A>T (p.Pro888=)
c.26346A>T (p.Pro8782=)
c.26334A>T (p.Pro8778=)
c.26325A>T (p.Pro8775=)
c.26304A>T (p.Pro8768=)
c.26295A>T (p.Pro8765=)
c.26289A>T (p.Pro8763=)
c.26277A>T (p.Pro8759=)
c.26274A>T (p.Pro8758=)
c.26235A>T (p.Pro8745=)
c.26220A>T (p.Pro8740=)
c.26205A>T (p.Pro8735=)
c.26193A>T (p.Pro8731=)
c.26190A>T (p.Pro8730=)
c.26187A>T (p.Pro8729=)
c.*10A>T (n.*10A>T)
c.26343A>T (p.Pro8781=)
c.26331A>T (p.Pro8777=)
c.26181A>T (p.Pro8727=)
c.24621A>T (p.Pro8207=)
c.24114A>T (p.Pro8038=)
c.19581A>T (p.Pro6527=)
c.26319A>T (p.Pro8773=)
c.26268A>T (p.Pro8756=)
c.26232A>T (p.Pro8744=)
c.26079A>T (p.Pro8693=)
6g.152122631T>CCA452969676ESR1,SYNE1c.2733A>G (p.Pro911=)
c.26199A>G (p.Pro8733=)
c.26055A>G (p.Pro8685=)
c.1542A>G
c.1917A>G
c.1784A>G
c.2049A>G (n.2049A>G)
c.24984A>G (p.Pro8328=)
n.2947A>G
c.4975A>G (n.4975A>G)
n.9891A>G
c.4078A>G (n.4078A>G)
n.9783A>G
c.851-2635T>C (n.851-2635T>C)
n.2813A>G
n.6836A>G
n.2977A>G
c.2664A>G (p.Pro888=)
c.26346A>G (p.Pro8782=)
c.26334A>G (p.Pro8778=)
c.26325A>G (p.Pro8775=)
c.26304A>G (p.Pro8768=)
c.26295A>G (p.Pro8765=)
c.26289A>G (p.Pro8763=)
c.26277A>G (p.Pro8759=)
c.26274A>G (p.Pro8758=)
c.26235A>G (p.Pro8745=)
c.26220A>G (p.Pro8740=)
c.26205A>G (p.Pro8735=)
c.26193A>G (p.Pro8731=)
c.26190A>G (p.Pro8730=)
c.26187A>G (p.Pro8729=)
c.*10A>G (n.*10A>G)
c.26343A>G (p.Pro8781=)
c.26331A>G (p.Pro8777=)
c.26181A>G (p.Pro8727=)
c.24621A>G (p.Pro8207=)
c.24114A>G (p.Pro8038=)
c.19581A>G (p.Pro6527=)
c.26319A>G (p.Pro8773=)
c.26268A>G (p.Pro8756=)
c.26232A>G (p.Pro8744=)
c.26079A>G (p.Pro8693=)
6g.152122631T>GCA452969677ESR1,SYNE1c.2733A>C (p.Pro911=)
c.26199A>C (p.Pro8733=)
c.26055A>C (p.Pro8685=)
c.1542A>C
c.1917A>C
c.1784A>C
c.2049A>C (n.2049A>C)
c.24984A>C (p.Pro8328=)
n.2947A>C
c.4975A>C (n.4975A>C)
n.9891A>C
c.4078A>C (n.4078A>C)
n.9783A>C
c.851-2635T>G (n.851-2635T>G)
n.2813A>C
n.6836A>C
n.2977A>C
c.2664A>C (p.Pro888=)
c.26346A>C (p.Pro8782=)
c.26334A>C (p.Pro8778=)
c.26325A>C (p.Pro8775=)
c.26304A>C (p.Pro8768=)
c.26295A>C (p.Pro8765=)
c.26289A>C (p.Pro8763=)
c.26277A>C (p.Pro8759=)
c.26274A>C (p.Pro8758=)
c.26235A>C (p.Pro8745=)
c.26220A>C (p.Pro8740=)
c.26205A>C (p.Pro8735=)
c.26193A>C (p.Pro8731=)
c.26190A>C (p.Pro8730=)
c.26187A>C (p.Pro8729=)
c.*10A>C (n.*10A>C)
c.26343A>C (p.Pro8781=)
c.26331A>C (p.Pro8777=)
c.26181A>C (p.Pro8727=)
c.24621A>C (p.Pro8207=)
c.24114A>C (p.Pro8038=)
c.19581A>C (p.Pro6527=)
c.26319A>C (p.Pro8773=)
c.26268A>C (p.Pro8756=)
c.26232A>C (p.Pro8744=)
c.26079A>C (p.Pro8693=)

Number of alleles fetched