Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152122632G>ACA366089165ESR1,SYNE1c.2732C>T (p.Pro911Leu)
c.26198C>T (p.Pro8733Leu)
c.26054C>T (p.Pro8685Leu)
c.1541C>T
c.1916C>T
c.1783C>T
c.2048C>T (n.2048C>T)
c.24983C>T (p.Pro8328Leu)
n.2946C>T
c.4974C>T (n.4974C>T)
n.9890C>T
c.4077C>T (n.4077C>T)
n.9782C>T
c.851-2634G>A (n.851-2634G>A)
n.2812C>T
n.6835C>T
n.2976C>T
c.2663C>T (p.Pro888Leu)
c.26345C>T (p.Pro8782Leu)
c.26333C>T (p.Pro8778Leu)
c.26324C>T (p.Pro8775Leu)
c.26303C>T (p.Pro8768Leu)
c.26294C>T (p.Pro8765Leu)
c.26288C>T (p.Pro8763Leu)
c.26276C>T (p.Pro8759Leu)
c.26273C>T (p.Pro8758Leu)
c.26234C>T (p.Pro8745Leu)
c.26219C>T (p.Pro8740Leu)
c.26204C>T (p.Pro8735Leu)
c.26192C>T (p.Pro8731Leu)
c.26189C>T (p.Pro8730Leu)
c.26186C>T (p.Pro8729Leu)
c.*9C>T (n.*9C>T)
c.26342C>T (p.Pro8781Leu)
c.26330C>T (p.Pro8777Leu)
c.26180C>T (p.Pro8727Leu)
c.24620C>T (p.Pro8207Leu)
c.24113C>T (p.Pro8038Leu)
c.19580C>T (p.Pro6527Leu)
c.26318C>T (p.Pro8773Leu)
c.26267C>T (p.Pro8756Leu)
c.26231C>T (p.Pro8744Leu)
c.26078C>T (p.Pro8693Leu)
6g.152122632G>CCA366089167ESR1,SYNE1c.2732C>G (p.Pro911Arg)
c.26198C>G (p.Pro8733Arg)
c.26054C>G (p.Pro8685Arg)
c.1541C>G
c.1916C>G
c.1783C>G
c.2048C>G (n.2048C>G)
c.24983C>G (p.Pro8328Arg)
n.2946C>G
c.4974C>G (n.4974C>G)
n.9890C>G
c.4077C>G (n.4077C>G)
n.9782C>G
c.851-2634G>C (n.851-2634G>C)
n.2812C>G
n.6835C>G
n.2976C>G
c.2663C>G (p.Pro888Arg)
c.26345C>G (p.Pro8782Arg)
c.26333C>G (p.Pro8778Arg)
c.26324C>G (p.Pro8775Arg)
c.26303C>G (p.Pro8768Arg)
c.26294C>G (p.Pro8765Arg)
c.26288C>G (p.Pro8763Arg)
c.26276C>G (p.Pro8759Arg)
c.26273C>G (p.Pro8758Arg)
c.26234C>G (p.Pro8745Arg)
c.26219C>G (p.Pro8740Arg)
c.26204C>G (p.Pro8735Arg)
c.26192C>G (p.Pro8731Arg)
c.26189C>G (p.Pro8730Arg)
c.26186C>G (p.Pro8729Arg)
c.*9C>G (n.*9C>G)
c.26342C>G (p.Pro8781Arg)
c.26330C>G (p.Pro8777Arg)
c.26180C>G (p.Pro8727Arg)
c.24620C>G (p.Pro8207Arg)
c.24113C>G (p.Pro8038Arg)
c.19580C>G (p.Pro6527Arg)
c.26318C>G (p.Pro8773Arg)
c.26267C>G (p.Pro8756Arg)
c.26231C>G (p.Pro8744Arg)
c.26078C>G (p.Pro8693Arg)
 gnomAD v4
6g.152122632G>TCA366089169ESR1,SYNE1c.2732C>A (p.Pro911Gln)
c.26198C>A (p.Pro8733Gln)
c.26054C>A (p.Pro8685Gln)
c.1541C>A
c.1916C>A
c.1783C>A
c.2048C>A (n.2048C>A)
c.24983C>A (p.Pro8328Gln)
n.2946C>A
c.4974C>A (n.4974C>A)
n.9890C>A
c.4077C>A (n.4077C>A)
n.9782C>A
c.851-2634G>T (n.851-2634G>T)
n.2812C>A
n.6835C>A
n.2976C>A
c.2663C>A (p.Pro888Gln)
c.26345C>A (p.Pro8782Gln)
c.26333C>A (p.Pro8778Gln)
c.26324C>A (p.Pro8775Gln)
c.26303C>A (p.Pro8768Gln)
c.26294C>A (p.Pro8765Gln)
c.26288C>A (p.Pro8763Gln)
c.26276C>A (p.Pro8759Gln)
c.26273C>A (p.Pro8758Gln)
c.26234C>A (p.Pro8745Gln)
c.26219C>A (p.Pro8740Gln)
c.26204C>A (p.Pro8735Gln)
c.26192C>A (p.Pro8731Gln)
c.26189C>A (p.Pro8730Gln)
c.26186C>A (p.Pro8729Gln)
c.*9C>A (n.*9C>A)
c.26342C>A (p.Pro8781Gln)
c.26330C>A (p.Pro8777Gln)
c.26180C>A (p.Pro8727Gln)
c.24620C>A (p.Pro8207Gln)
c.24113C>A (p.Pro8038Gln)
c.19580C>A (p.Pro6527Gln)
c.26318C>A (p.Pro8773Gln)
c.26267C>A (p.Pro8756Gln)
c.26231C>A (p.Pro8744Gln)
c.26078C>A (p.Pro8693Gln)
6g.152122633G>ACA366089171ESR1,SYNE1c.2731C>T (p.Pro911Ser)
c.26197C>T (p.Pro8733Ser)
c.26053C>T (p.Pro8685Ser)
c.1540C>T
c.1915C>T
c.1782C>T
c.2047C>T (n.2047C>T)
c.24982C>T (p.Pro8328Ser)
n.2945C>T
c.4973C>T (n.4973C>T)
n.9889C>T
c.4076C>T (n.4076C>T)
n.9781C>T
c.851-2633G>A (n.851-2633G>A)
n.2811C>T
n.6834C>T
n.2975C>T
c.2662C>T (p.Pro888Ser)
c.26344C>T (p.Pro8782Ser)
c.26332C>T (p.Pro8778Ser)
c.26323C>T (p.Pro8775Ser)
c.26302C>T (p.Pro8768Ser)
c.26293C>T (p.Pro8765Ser)
c.26287C>T (p.Pro8763Ser)
c.26275C>T (p.Pro8759Ser)
c.26272C>T (p.Pro8758Ser)
c.26233C>T (p.Pro8745Ser)
c.26218C>T (p.Pro8740Ser)
c.26203C>T (p.Pro8735Ser)
c.26191C>T (p.Pro8731Ser)
c.26188C>T (p.Pro8730Ser)
c.26185C>T (p.Pro8729Ser)
c.*8C>T (n.*8C>T)
c.26341C>T (p.Pro8781Ser)
c.26329C>T (p.Pro8777Ser)
c.26179C>T (p.Pro8727Ser)
c.24619C>T (p.Pro8207Ser)
c.24112C>T (p.Pro8038Ser)
c.19579C>T (p.Pro6527Ser)
c.26317C>T (p.Pro8773Ser)
c.26266C>T (p.Pro8756Ser)
c.26230C>T (p.Pro8744Ser)
c.26077C>T (p.Pro8693Ser)
 dbSNP gnomAD v4
6g.152122633G>CCA366089172ESR1,SYNE1c.2731C>G (p.Pro911Ala)
c.26197C>G (p.Pro8733Ala)
c.26053C>G (p.Pro8685Ala)
c.1540C>G
c.1915C>G
c.1782C>G
c.2047C>G (n.2047C>G)
c.24982C>G (p.Pro8328Ala)
n.2945C>G
c.4973C>G (n.4973C>G)
n.9889C>G
c.4076C>G (n.4076C>G)
n.9781C>G
c.851-2633G>C (n.851-2633G>C)
n.2811C>G
n.6834C>G
n.2975C>G
c.2662C>G (p.Pro888Ala)
c.26344C>G (p.Pro8782Ala)
c.26332C>G (p.Pro8778Ala)
c.26323C>G (p.Pro8775Ala)
c.26302C>G (p.Pro8768Ala)
c.26293C>G (p.Pro8765Ala)
c.26287C>G (p.Pro8763Ala)
c.26275C>G (p.Pro8759Ala)
c.26272C>G (p.Pro8758Ala)
c.26233C>G (p.Pro8745Ala)
c.26218C>G (p.Pro8740Ala)
c.26203C>G (p.Pro8735Ala)
c.26191C>G (p.Pro8731Ala)
c.26188C>G (p.Pro8730Ala)
c.26185C>G (p.Pro8729Ala)
c.*8C>G (n.*8C>G)
c.26341C>G (p.Pro8781Ala)
c.26329C>G (p.Pro8777Ala)
c.26179C>G (p.Pro8727Ala)
c.24619C>G (p.Pro8207Ala)
c.24112C>G (p.Pro8038Ala)
c.19579C>G (p.Pro6527Ala)
c.26317C>G (p.Pro8773Ala)
c.26266C>G (p.Pro8756Ala)
c.26230C>G (p.Pro8744Ala)
c.26077C>G (p.Pro8693Ala)
6g.152122633G=CA1673189203ESR1,SYNE1c.2731C= (p.Pro911=)
c.26197C= (p.Pro8733=)
c.26053C= (p.Pro8685=)
c.1540C=
c.1915C=
c.1782C=
c.2047C= (n.2047C=)
c.24982C= (p.Pro8328=)
n.2945C=
c.4973C= (n.4973C=)
n.9889C=
c.4076C= (n.4076C=)
n.9781C=
c.851-2633G= (n.851-2633G=)
n.2811C=
n.6834C=
n.2975C=
c.2662C= (p.Pro888=)
c.26344C= (p.Pro8782=)
c.26332C= (p.Pro8778=)
c.26323C= (p.Pro8775=)
c.26302C= (p.Pro8768=)
c.26293C= (p.Pro8765=)
c.26287C= (p.Pro8763=)
c.26275C= (p.Pro8759=)
c.26272C= (p.Pro8758=)
c.26233C= (p.Pro8745=)
c.26218C= (p.Pro8740=)
c.26203C= (p.Pro8735=)
c.26191C= (p.Pro8731=)
c.26188C= (p.Pro8730=)
c.26185C= (p.Pro8729=)
c.*8C= (n.*8C=)
c.26341C= (p.Pro8781=)
c.26329C= (p.Pro8777=)
c.26179C= (p.Pro8727=)
c.24619C= (p.Pro8207=)
c.24112C= (p.Pro8038=)
c.19579C= (p.Pro6527=)
c.26317C= (p.Pro8773=)
c.26266C= (p.Pro8756=)
c.26230C= (p.Pro8744=)
c.26077C= (p.Pro8693=)
6g.152122633G>TCA366089174ESR1,SYNE1c.2731C>A (p.Pro911Thr)
c.26197C>A (p.Pro8733Thr)
c.26053C>A (p.Pro8685Thr)
c.1540C>A
c.1915C>A
c.1782C>A
c.2047C>A (n.2047C>A)
c.24982C>A (p.Pro8328Thr)
n.2945C>A
c.4973C>A (n.4973C>A)
n.9889C>A
c.4076C>A (n.4076C>A)
n.9781C>A
c.851-2633G>T (n.851-2633G>T)
n.2811C>A
n.6834C>A
n.2975C>A
c.2662C>A (p.Pro888Thr)
c.26344C>A (p.Pro8782Thr)
c.26332C>A (p.Pro8778Thr)
c.26323C>A (p.Pro8775Thr)
c.26302C>A (p.Pro8768Thr)
c.26293C>A (p.Pro8765Thr)
c.26287C>A (p.Pro8763Thr)
c.26275C>A (p.Pro8759Thr)
c.26272C>A (p.Pro8758Thr)
c.26233C>A (p.Pro8745Thr)
c.26218C>A (p.Pro8740Thr)
c.26203C>A (p.Pro8735Thr)
c.26191C>A (p.Pro8731Thr)
c.26188C>A (p.Pro8730Thr)
c.26185C>A (p.Pro8729Thr)
c.*8C>A (n.*8C>A)
c.26341C>A (p.Pro8781Thr)
c.26329C>A (p.Pro8777Thr)
c.26179C>A (p.Pro8727Thr)
c.24619C>A (p.Pro8207Thr)
c.24112C>A (p.Pro8038Thr)
c.19579C>A (p.Pro6527Thr)
c.26317C>A (p.Pro8773Thr)
c.26266C>A (p.Pro8756Thr)
c.26230C>A (p.Pro8744Thr)
c.26077C>A (p.Pro8693Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.152122634C>ACA452969686ESR1,SYNE1c.2730G>T (p.Gly910=)
c.26196G>T (p.Gly8732=)
c.26052G>T (p.Gly8684=)
c.1539G>T
c.1914G>T
c.1781G>T
c.2046G>T (n.2046G>T)
c.24981G>T (p.Gly8327=)
n.2944G>T
c.4972G>T (n.4972G>T)
n.9888G>T
c.4075G>T (n.4075G>T)
n.9780G>T
c.851-2632C>A (n.851-2632C>A)
n.2810G>T
n.6833G>T
n.2974G>T
c.2661G>T (p.Gly887=)
c.26343G>T (p.Gly8781=)
c.26331G>T (p.Gly8777=)
c.26322G>T (p.Gly8774=)
c.26301G>T (p.Gly8767=)
c.26292G>T (p.Gly8764=)
c.26286G>T (p.Gly8762=)
c.26274G>T (p.Gly8758=)
c.26271G>T (p.Gly8757=)
c.26232G>T (p.Gly8744=)
c.26217G>T (p.Gly8739=)
c.26202G>T (p.Gly8734=)
c.26190G>T (p.Gly8730=)
c.26187G>T (p.Gly8729=)
c.26184G>T (p.Gly8728=)
c.*7G>T (n.*7G>T)
c.26340G>T (p.Gly8780=)
c.26328G>T (p.Gly8776=)
c.26178G>T (p.Gly8726=)
c.24618G>T (p.Gly8206=)
c.24111G>T (p.Gly8037=)
c.19578G>T (p.Gly6526=)
c.26316G>T (p.Gly8772=)
c.26265G>T (p.Gly8755=)
c.26229G>T (p.Gly8743=)
c.26076G>T (p.Gly8692=)
 ClinVar dbSNP
6g.152122634C=CA1673189208ESR1,SYNE1c.2730G= (p.Gly910=)
c.26196G= (p.Gly8732=)
c.26052G= (p.Gly8684=)
c.1539G=
c.1914G=
c.1781G=
c.2046G= (n.2046G=)
c.24981G= (p.Gly8327=)
n.2944G=
c.4972G= (n.4972G=)
n.9888G=
c.4075G= (n.4075G=)
n.9780G=
c.851-2632C= (n.851-2632C=)
n.2810G=
n.6833G=
n.2974G=
c.2661G= (p.Gly887=)
c.26343G= (p.Gly8781=)
c.26331G= (p.Gly8777=)
c.26322G= (p.Gly8774=)
c.26301G= (p.Gly8767=)
c.26292G= (p.Gly8764=)
c.26286G= (p.Gly8762=)
c.26274G= (p.Gly8758=)
c.26271G= (p.Gly8757=)
c.26232G= (p.Gly8744=)
c.26217G= (p.Gly8739=)
c.26202G= (p.Gly8734=)
c.26190G= (p.Gly8730=)
c.26187G= (p.Gly8729=)
c.26184G= (p.Gly8728=)
c.*7G= (n.*7G=)
c.26340G= (p.Gly8780=)
c.26328G= (p.Gly8776=)
c.26178G= (p.Gly8726=)
c.24618G= (p.Gly8206=)
c.24111G= (p.Gly8037=)
c.19578G= (p.Gly6526=)
c.26316G= (p.Gly8772=)
c.26265G= (p.Gly8755=)
c.26229G= (p.Gly8743=)
c.26076G= (p.Gly8692=)
6g.152122634C>GCA452969684ESR1,SYNE1c.2730G>C (p.Gly910=)
c.26196G>C (p.Gly8732=)
c.26052G>C (p.Gly8684=)
c.1539G>C
c.1914G>C
c.1781G>C
c.2046G>C (n.2046G>C)
c.24981G>C (p.Gly8327=)
n.2944G>C
c.4972G>C (n.4972G>C)
n.9888G>C
c.4075G>C (n.4075G>C)
n.9780G>C
c.851-2632C>G (n.851-2632C>G)
n.2810G>C
n.6833G>C
n.2974G>C
c.2661G>C (p.Gly887=)
c.26343G>C (p.Gly8781=)
c.26331G>C (p.Gly8777=)
c.26322G>C (p.Gly8774=)
c.26301G>C (p.Gly8767=)
c.26292G>C (p.Gly8764=)
c.26286G>C (p.Gly8762=)
c.26274G>C (p.Gly8758=)
c.26271G>C (p.Gly8757=)
c.26232G>C (p.Gly8744=)
c.26217G>C (p.Gly8739=)
c.26202G>C (p.Gly8734=)
c.26190G>C (p.Gly8730=)
c.26187G>C (p.Gly8729=)
c.26184G>C (p.Gly8728=)
c.*7G>C (n.*7G>C)
c.26340G>C (p.Gly8780=)
c.26328G>C (p.Gly8776=)
c.26178G>C (p.Gly8726=)
c.24618G>C (p.Gly8206=)
c.24111G>C (p.Gly8037=)
c.19578G>C (p.Gly6526=)
c.26316G>C (p.Gly8772=)
c.26265G>C (p.Gly8755=)
c.26229G>C (p.Gly8743=)
c.26076G>C (p.Gly8692=)
 gnomAD v4
6g.152122634C>TCA452969685ESR1,SYNE1c.2730G>A (p.Gly910=)
c.26196G>A (p.Gly8732=)
c.26052G>A (p.Gly8684=)
c.1539G>A
c.1914G>A
c.1781G>A
c.2046G>A (n.2046G>A)
c.24981G>A (p.Gly8327=)
n.2944G>A
c.4972G>A (n.4972G>A)
n.9888G>A
c.4075G>A (n.4075G>A)
n.9780G>A
c.851-2632C>T (n.851-2632C>T)
n.2810G>A
n.6833G>A
n.2974G>A
c.2661G>A (p.Gly887=)
c.26343G>A (p.Gly8781=)
c.26331G>A (p.Gly8777=)
c.26322G>A (p.Gly8774=)
c.26301G>A (p.Gly8767=)
c.26292G>A (p.Gly8764=)
c.26286G>A (p.Gly8762=)
c.26274G>A (p.Gly8758=)
c.26271G>A (p.Gly8757=)
c.26232G>A (p.Gly8744=)
c.26217G>A (p.Gly8739=)
c.26202G>A (p.Gly8734=)
c.26190G>A (p.Gly8730=)
c.26187G>A (p.Gly8729=)
c.26184G>A (p.Gly8728=)
c.*7G>A (n.*7G>A)
c.26340G>A (p.Gly8780=)
c.26328G>A (p.Gly8776=)
c.26178G>A (p.Gly8726=)
c.24618G>A (p.Gly8206=)
c.24111G>A (p.Gly8037=)
c.19578G>A (p.Gly6526=)
c.26316G>A (p.Gly8772=)
c.26265G>A (p.Gly8755=)
c.26229G>A (p.Gly8743=)
c.26076G>A (p.Gly8692=)
6g.152122635C>ACA366089177ESR1,SYNE1c.2729G>T (p.Gly910Val)
c.26195G>T (p.Gly8732Val)
c.26051G>T (p.Gly8684Val)
c.1538G>T
c.1913G>T
c.1780G>T
c.2045G>T (n.2045G>T)
c.24980G>T (p.Gly8327Val)
n.2943G>T
c.4971G>T (n.4971G>T)
n.9887G>T
c.4074G>T (n.4074G>T)
n.9779G>T
c.851-2631C>A (n.851-2631C>A)
n.2809G>T
n.6832G>T
n.2973G>T
c.2660G>T (p.Gly887Val)
c.26342G>T (p.Gly8781Val)
c.26330G>T (p.Gly8777Val)
c.26321G>T (p.Gly8774Val)
c.26300G>T (p.Gly8767Val)
c.26291G>T (p.Gly8764Val)
c.26285G>T (p.Gly8762Val)
c.26273G>T (p.Gly8758Val)
c.26270G>T (p.Gly8757Val)
c.26231G>T (p.Gly8744Val)
c.26216G>T (p.Gly8739Val)
c.26201G>T (p.Gly8734Val)
c.26189G>T (p.Gly8730Val)
c.26186G>T (p.Gly8729Val)
c.26183G>T (p.Gly8728Val)
c.*6G>T (n.*6G>T)
c.26339G>T (p.Gly8780Val)
c.26327G>T (p.Gly8776Val)
c.26177G>T (p.Gly8726Val)
c.24617G>T (p.Gly8206Val)
c.24110G>T (p.Gly8037Val)
c.19577G>T (p.Gly6526Val)
c.26315G>T (p.Gly8772Val)
c.26264G>T (p.Gly8755Val)
c.26228G>T (p.Gly8743Val)
c.26075G>T (p.Gly8692Val)
6g.152122635C=CA1673189215ESR1,SYNE1c.2729G= (p.Gly910=)
c.26195G= (p.Gly8732=)
c.26051G= (p.Gly8684=)
c.1538G=
c.1913G=
c.1780G=
c.2045G= (n.2045G=)
c.24980G= (p.Gly8327=)
n.2943G=
c.4971G= (n.4971G=)
n.9887G=
c.4074G= (n.4074G=)
n.9779G=
c.851-2631C= (n.851-2631C=)
n.2809G=
n.6832G=
n.2973G=
c.2660G= (p.Gly887=)
c.26342G= (p.Gly8781=)
c.26330G= (p.Gly8777=)
c.26321G= (p.Gly8774=)
c.26300G= (p.Gly8767=)
c.26291G= (p.Gly8764=)
c.26285G= (p.Gly8762=)
c.26273G= (p.Gly8758=)
c.26270G= (p.Gly8757=)
c.26231G= (p.Gly8744=)
c.26216G= (p.Gly8739=)
c.26201G= (p.Gly8734=)
c.26189G= (p.Gly8730=)
c.26186G= (p.Gly8729=)
c.26183G= (p.Gly8728=)
c.*6G= (n.*6G=)
c.26339G= (p.Gly8780=)
c.26327G= (p.Gly8776=)
c.26177G= (p.Gly8726=)
c.24617G= (p.Gly8206=)
c.24110G= (p.Gly8037=)
c.19577G= (p.Gly6526=)
c.26315G= (p.Gly8772=)
c.26264G= (p.Gly8755=)
c.26228G= (p.Gly8743=)
c.26075G= (p.Gly8692=)
6g.152122635C>GCA366089179ESR1,SYNE1c.2729G>C (p.Gly910Ala)
c.26195G>C (p.Gly8732Ala)
c.26051G>C (p.Gly8684Ala)
c.1538G>C
c.1913G>C
c.1780G>C
c.2045G>C (n.2045G>C)
c.24980G>C (p.Gly8327Ala)
n.2943G>C
c.4971G>C (n.4971G>C)
n.9887G>C
c.4074G>C (n.4074G>C)
n.9779G>C
c.851-2631C>G (n.851-2631C>G)
n.2809G>C
n.6832G>C
n.2973G>C
c.2660G>C (p.Gly887Ala)
c.26342G>C (p.Gly8781Ala)
c.26330G>C (p.Gly8777Ala)
c.26321G>C (p.Gly8774Ala)
c.26300G>C (p.Gly8767Ala)
c.26291G>C (p.Gly8764Ala)
c.26285G>C (p.Gly8762Ala)
c.26273G>C (p.Gly8758Ala)
c.26270G>C (p.Gly8757Ala)
c.26231G>C (p.Gly8744Ala)
c.26216G>C (p.Gly8739Ala)
c.26201G>C (p.Gly8734Ala)
c.26189G>C (p.Gly8730Ala)
c.26186G>C (p.Gly8729Ala)
c.26183G>C (p.Gly8728Ala)
c.*6G>C (n.*6G>C)
c.26339G>C (p.Gly8780Ala)
c.26327G>C (p.Gly8776Ala)
c.26177G>C (p.Gly8726Ala)
c.24617G>C (p.Gly8206Ala)
c.24110G>C (p.Gly8037Ala)
c.19577G>C (p.Gly6526Ala)
c.26315G>C (p.Gly8772Ala)
c.26264G>C (p.Gly8755Ala)
c.26228G>C (p.Gly8743Ala)
c.26075G>C (p.Gly8692Ala)
6g.152122635C>TCA366089178ESR1,SYNE1c.2729G>A (p.Gly910Glu)
c.26195G>A (p.Gly8732Glu)
c.26051G>A (p.Gly8684Glu)
c.1538G>A
c.1913G>A
c.1780G>A
c.2045G>A (n.2045G>A)
c.24980G>A (p.Gly8327Glu)
n.2943G>A
c.4971G>A (n.4971G>A)
n.9887G>A
c.4074G>A (n.4074G>A)
n.9779G>A
c.851-2631C>T (n.851-2631C>T)
n.2809G>A
n.6832G>A
n.2973G>A
c.2660G>A (p.Gly887Glu)
c.26342G>A (p.Gly8781Glu)
c.26330G>A (p.Gly8777Glu)
c.26321G>A (p.Gly8774Glu)
c.26300G>A (p.Gly8767Glu)
c.26291G>A (p.Gly8764Glu)
c.26285G>A (p.Gly8762Glu)
c.26273G>A (p.Gly8758Glu)
c.26270G>A (p.Gly8757Glu)
c.26231G>A (p.Gly8744Glu)
c.26216G>A (p.Gly8739Glu)
c.26201G>A (p.Gly8734Glu)
c.26189G>A (p.Gly8730Glu)
c.26186G>A (p.Gly8729Glu)
c.26183G>A (p.Gly8728Glu)
c.*6G>A (n.*6G>A)
c.26339G>A (p.Gly8780Glu)
c.26327G>A (p.Gly8776Glu)
c.26177G>A (p.Gly8726Glu)
c.24617G>A (p.Gly8206Glu)
c.24110G>A (p.Gly8037Glu)
c.19577G>A (p.Gly6526Glu)
c.26315G>A (p.Gly8772Glu)
c.26264G>A (p.Gly8755Glu)
c.26228G>A (p.Gly8743Glu)
c.26075G>A (p.Gly8692Glu)
 ClinVar dbSNP
6g.152122636C>ACA366089180ESR1,SYNE1c.2728G>T (p.Gly910Trp)
c.26194G>T (p.Gly8732Trp)
c.26050G>T (p.Gly8684Trp)
c.1537G>T
c.1912G>T
c.1779G>T
c.2044G>T (n.2044G>T)
c.24979G>T (p.Gly8327Trp)
n.2942G>T
c.4970G>T (n.4970G>T)
n.9886G>T
c.4073G>T (n.4073G>T)
n.9778G>T
c.851-2630C>A (n.851-2630C>A)
n.2808G>T
n.6831G>T
n.2972G>T
c.2659G>T (p.Gly887Trp)
c.26341G>T (p.Gly8781Trp)
c.26329G>T (p.Gly8777Trp)
c.26320G>T (p.Gly8774Trp)
c.26299G>T (p.Gly8767Trp)
c.26290G>T (p.Gly8764Trp)
c.26284G>T (p.Gly8762Trp)
c.26272G>T (p.Gly8758Trp)
c.26269G>T (p.Gly8757Trp)
c.26230G>T (p.Gly8744Trp)
c.26215G>T (p.Gly8739Trp)
c.26200G>T (p.Gly8734Trp)
c.26188G>T (p.Gly8730Trp)
c.26185G>T (p.Gly8729Trp)
c.26182G>T (p.Gly8728Trp)
c.*5G>T (n.*5G>T)
c.26338G>T (p.Gly8780Trp)
c.26326G>T (p.Gly8776Trp)
c.26176G>T (p.Gly8726Trp)
c.24616G>T (p.Gly8206Trp)
c.24109G>T (p.Gly8037Trp)
c.19576G>T (p.Gly6526Trp)
c.26314G>T (p.Gly8772Trp)
c.26263G>T (p.Gly8755Trp)
c.26227G>T (p.Gly8743Trp)
c.26074G>T (p.Gly8692Trp)
6g.152122636C>GCA366089181ESR1,SYNE1c.2728G>C (p.Gly910Arg)
c.26194G>C (p.Gly8732Arg)
c.26050G>C (p.Gly8684Arg)
c.1537G>C
c.1912G>C
c.1779G>C
c.2044G>C (n.2044G>C)
c.24979G>C (p.Gly8327Arg)
n.2942G>C
c.4970G>C (n.4970G>C)
n.9886G>C
c.4073G>C (n.4073G>C)
n.9778G>C
c.851-2630C>G (n.851-2630C>G)
n.2808G>C
n.6831G>C
n.2972G>C
c.2659G>C (p.Gly887Arg)
c.26341G>C (p.Gly8781Arg)
c.26329G>C (p.Gly8777Arg)
c.26320G>C (p.Gly8774Arg)
c.26299G>C (p.Gly8767Arg)
c.26290G>C (p.Gly8764Arg)
c.26284G>C (p.Gly8762Arg)
c.26272G>C (p.Gly8758Arg)
c.26269G>C (p.Gly8757Arg)
c.26230G>C (p.Gly8744Arg)
c.26215G>C (p.Gly8739Arg)
c.26200G>C (p.Gly8734Arg)
c.26188G>C (p.Gly8730Arg)
c.26185G>C (p.Gly8729Arg)
c.26182G>C (p.Gly8728Arg)
c.*5G>C (n.*5G>C)
c.26338G>C (p.Gly8780Arg)
c.26326G>C (p.Gly8776Arg)
c.26176G>C (p.Gly8726Arg)
c.24616G>C (p.Gly8206Arg)
c.24109G>C (p.Gly8037Arg)
c.19576G>C (p.Gly6526Arg)
c.26314G>C (p.Gly8772Arg)
c.26263G>C (p.Gly8755Arg)
c.26227G>C (p.Gly8743Arg)
c.26074G>C (p.Gly8692Arg)
6g.152122636C>TCA366089182ESR1,SYNE1c.2728G>A (p.Gly910Arg)
c.26194G>A (p.Gly8732Arg)
c.26050G>A (p.Gly8684Arg)
c.1537G>A
c.1912G>A
c.1779G>A
c.2044G>A (n.2044G>A)
c.24979G>A (p.Gly8327Arg)
n.2942G>A
c.4970G>A (n.4970G>A)
n.9886G>A
c.4073G>A (n.4073G>A)
n.9778G>A
c.851-2630C>T (n.851-2630C>T)
n.2808G>A
n.6831G>A
n.2972G>A
c.2659G>A (p.Gly887Arg)
c.26341G>A (p.Gly8781Arg)
c.26329G>A (p.Gly8777Arg)
c.26320G>A (p.Gly8774Arg)
c.26299G>A (p.Gly8767Arg)
c.26290G>A (p.Gly8764Arg)
c.26284G>A (p.Gly8762Arg)
c.26272G>A (p.Gly8758Arg)
c.26269G>A (p.Gly8757Arg)
c.26230G>A (p.Gly8744Arg)
c.26215G>A (p.Gly8739Arg)
c.26200G>A (p.Gly8734Arg)
c.26188G>A (p.Gly8730Arg)
c.26185G>A (p.Gly8729Arg)
c.26182G>A (p.Gly8728Arg)
c.*5G>A (n.*5G>A)
c.26338G>A (p.Gly8780Arg)
c.26326G>A (p.Gly8776Arg)
c.26176G>A (p.Gly8726Arg)
c.24616G>A (p.Gly8206Arg)
c.24109G>A (p.Gly8037Arg)
c.19576G>A (p.Gly6526Arg)
c.26314G>A (p.Gly8772Arg)
c.26263G>A (p.Gly8755Arg)
c.26227G>A (p.Gly8743Arg)
c.26074G>A (p.Gly8692Arg)
6g.152122637T>ACA452969688ESR1,SYNE1c.2727A>T (p.Pro909=)
c.26193A>T (p.Pro8731=)
c.26049A>T (p.Pro8683=)
c.1536A>T
c.1911A>T
c.1778A>T
c.2043A>T (n.2043A>T)
c.24978A>T (p.Pro8326=)
n.2941A>T
c.4969A>T (n.4969A>T)
n.9885A>T
c.4072A>T (n.4072A>T)
n.9777A>T
c.851-2629T>A (n.851-2629T>A)
n.2807A>T
n.6830A>T
n.2971A>T
c.2658A>T (p.Pro886=)
c.26340A>T (p.Pro8780=)
c.26328A>T (p.Pro8776=)
c.26319A>T (p.Pro8773=)
c.26298A>T (p.Pro8766=)
c.26289A>T (p.Pro8763=)
c.26283A>T (p.Pro8761=)
c.26271A>T (p.Pro8757=)
c.26268A>T (p.Pro8756=)
c.26229A>T (p.Pro8743=)
c.26214A>T (p.Pro8738=)
c.26199A>T (p.Pro8733=)
c.26187A>T (p.Pro8729=)
c.26184A>T (p.Pro8728=)
c.26181A>T (p.Pro8727=)
c.*4A>T (n.*4A>T)
c.26337A>T (p.Pro8779=)
c.26325A>T (p.Pro8775=)
c.26175A>T (p.Pro8725=)
c.24615A>T (p.Pro8205=)
c.24108A>T (p.Pro8036=)
c.19575A>T (p.Pro6525=)
c.26313A>T (p.Pro8771=)
c.26262A>T (p.Pro8754=)
c.26226A>T (p.Pro8742=)
c.26073A>T (p.Pro8691=)
6g.152122637T>CCA452969690ESR1,SYNE1c.2727A>G (p.Pro909=)
c.26193A>G (p.Pro8731=)
c.26049A>G (p.Pro8683=)
c.1536A>G
c.1911A>G
c.1778A>G
c.2043A>G (n.2043A>G)
c.24978A>G (p.Pro8326=)
n.2941A>G
c.4969A>G (n.4969A>G)
n.9885A>G
c.4072A>G (n.4072A>G)
n.9777A>G
c.851-2629T>C (n.851-2629T>C)
n.2807A>G
n.6830A>G
n.2971A>G
c.2658A>G (p.Pro886=)
c.26340A>G (p.Pro8780=)
c.26328A>G (p.Pro8776=)
c.26319A>G (p.Pro8773=)
c.26298A>G (p.Pro8766=)
c.26289A>G (p.Pro8763=)
c.26283A>G (p.Pro8761=)
c.26271A>G (p.Pro8757=)
c.26268A>G (p.Pro8756=)
c.26229A>G (p.Pro8743=)
c.26214A>G (p.Pro8738=)
c.26199A>G (p.Pro8733=)
c.26187A>G (p.Pro8729=)
c.26184A>G (p.Pro8728=)
c.26181A>G (p.Pro8727=)
c.*4A>G (n.*4A>G)
c.26337A>G (p.Pro8779=)
c.26325A>G (p.Pro8775=)
c.26175A>G (p.Pro8725=)
c.24615A>G (p.Pro8205=)
c.24108A>G (p.Pro8036=)
c.19575A>G (p.Pro6525=)
c.26313A>G (p.Pro8771=)
c.26262A>G (p.Pro8754=)
c.26226A>G (p.Pro8742=)
c.26073A>G (p.Pro8691=)
6g.152122637T>GCA452969692ESR1,SYNE1c.2727A>C (p.Pro909=)
c.26193A>C (p.Pro8731=)
c.26049A>C (p.Pro8683=)
c.1536A>C
c.1911A>C
c.1778A>C
c.2043A>C (n.2043A>C)
c.24978A>C (p.Pro8326=)
n.2941A>C
c.4969A>C (n.4969A>C)
n.9885A>C
c.4072A>C (n.4072A>C)
n.9777A>C
c.851-2629T>G (n.851-2629T>G)
n.2807A>C
n.6830A>C
n.2971A>C
c.2658A>C (p.Pro886=)
c.26340A>C (p.Pro8780=)
c.26328A>C (p.Pro8776=)
c.26319A>C (p.Pro8773=)
c.26298A>C (p.Pro8766=)
c.26289A>C (p.Pro8763=)
c.26283A>C (p.Pro8761=)
c.26271A>C (p.Pro8757=)
c.26268A>C (p.Pro8756=)
c.26229A>C (p.Pro8743=)
c.26214A>C (p.Pro8738=)
c.26199A>C (p.Pro8733=)
c.26187A>C (p.Pro8729=)
c.26184A>C (p.Pro8728=)
c.26181A>C (p.Pro8727=)
c.*4A>C (n.*4A>C)
c.26337A>C (p.Pro8779=)
c.26325A>C (p.Pro8775=)
c.26175A>C (p.Pro8725=)
c.24615A>C (p.Pro8205=)
c.24108A>C (p.Pro8036=)
c.19575A>C (p.Pro6525=)
c.26313A>C (p.Pro8771=)
c.26262A>C (p.Pro8754=)
c.26226A>C (p.Pro8742=)
c.26073A>C (p.Pro8691=)
6g.152122638G>ACA4052610ESR1,SYNE1c.2726C>T (p.Pro909Leu)
c.26192C>T (p.Pro8731Leu)
c.26048C>T (p.Pro8683Leu)
c.1535C>T
c.1910C>T
c.1777C>T
c.2042C>T (n.2042C>T)
c.24977C>T (p.Pro8326Leu)
n.2940C>T
c.4968C>T (n.4968C>T)
n.9884C>T
c.4071C>T (n.4071C>T)
n.9776C>T
c.851-2628G>A (n.851-2628G>A)
n.2806C>T
n.6829C>T
n.2970C>T
c.2657C>T (p.Pro886Leu)
c.26339C>T (p.Pro8780Leu)
c.26327C>T (p.Pro8776Leu)
c.26318C>T (p.Pro8773Leu)
c.26297C>T (p.Pro8766Leu)
c.26288C>T (p.Pro8763Leu)
c.26282C>T (p.Pro8761Leu)
c.26270C>T (p.Pro8757Leu)
c.26267C>T (p.Pro8756Leu)
c.26228C>T (p.Pro8743Leu)
c.26213C>T (p.Pro8738Leu)
c.26198C>T (p.Pro8733Leu)
c.26186C>T (p.Pro8729Leu)
c.26183C>T (p.Pro8728Leu)
c.26180C>T (p.Pro8727Leu)
c.*3C>T (n.*3C>T)
c.26336C>T (p.Pro8779Leu)
c.26324C>T (p.Pro8775Leu)
c.26174C>T (p.Pro8725Leu)
c.24614C>T (p.Pro8205Leu)
c.24107C>T (p.Pro8036Leu)
c.19574C>T (p.Pro6525Leu)
c.26312C>T (p.Pro8771Leu)
c.26261C>T (p.Pro8754Leu)
c.26225C>T (p.Pro8742Leu)
c.26072C>T (p.Pro8691Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122638G>CCA366089183ESR1,SYNE1c.2726C>G (p.Pro909Arg)
c.26192C>G (p.Pro8731Arg)
c.26048C>G (p.Pro8683Arg)
c.1535C>G
c.1910C>G
c.1777C>G
c.2042C>G (n.2042C>G)
c.24977C>G (p.Pro8326Arg)
n.2940C>G
c.4968C>G (n.4968C>G)
n.9884C>G
c.4071C>G (n.4071C>G)
n.9776C>G
c.851-2628G>C (n.851-2628G>C)
n.2806C>G
n.6829C>G
n.2970C>G
c.2657C>G (p.Pro886Arg)
c.26339C>G (p.Pro8780Arg)
c.26327C>G (p.Pro8776Arg)
c.26318C>G (p.Pro8773Arg)
c.26297C>G (p.Pro8766Arg)
c.26288C>G (p.Pro8763Arg)
c.26282C>G (p.Pro8761Arg)
c.26270C>G (p.Pro8757Arg)
c.26267C>G (p.Pro8756Arg)
c.26228C>G (p.Pro8743Arg)
c.26213C>G (p.Pro8738Arg)
c.26198C>G (p.Pro8733Arg)
c.26186C>G (p.Pro8729Arg)
c.26183C>G (p.Pro8728Arg)
c.26180C>G (p.Pro8727Arg)
c.*3C>G (n.*3C>G)
c.26336C>G (p.Pro8779Arg)
c.26324C>G (p.Pro8775Arg)
c.26174C>G (p.Pro8725Arg)
c.24614C>G (p.Pro8205Arg)
c.24107C>G (p.Pro8036Arg)
c.19574C>G (p.Pro6525Arg)
c.26312C>G (p.Pro8771Arg)
c.26261C>G (p.Pro8754Arg)
c.26225C>G (p.Pro8742Arg)
c.26072C>G (p.Pro8691Arg)
6g.152122638G=CA1673189225ESR1,SYNE1c.2726C= (p.Pro909=)
c.26192C= (p.Pro8731=)
c.26048C= (p.Pro8683=)
c.1535C=
c.1910C=
c.1777C=
c.2042C= (n.2042C=)
c.24977C= (p.Pro8326=)
n.2940C=
c.4968C= (n.4968C=)
n.9884C=
c.4071C= (n.4071C=)
n.9776C=
c.851-2628G= (n.851-2628G=)
n.2806C=
n.6829C=
n.2970C=
c.2657C= (p.Pro886=)
c.26339C= (p.Pro8780=)
c.26327C= (p.Pro8776=)
c.26318C= (p.Pro8773=)
c.26297C= (p.Pro8766=)
c.26288C= (p.Pro8763=)
c.26282C= (p.Pro8761=)
c.26270C= (p.Pro8757=)
c.26267C= (p.Pro8756=)
c.26228C= (p.Pro8743=)
c.26213C= (p.Pro8738=)
c.26198C= (p.Pro8733=)
c.26186C= (p.Pro8729=)
c.26183C= (p.Pro8728=)
c.26180C= (p.Pro8727=)
c.*3C= (n.*3C=)
c.26336C= (p.Pro8779=)
c.26324C= (p.Pro8775=)
c.26174C= (p.Pro8725=)
c.24614C= (p.Pro8205=)
c.24107C= (p.Pro8036=)
c.19574C= (p.Pro6525=)
c.26312C= (p.Pro8771=)
c.26261C= (p.Pro8754=)
c.26225C= (p.Pro8742=)
c.26072C= (p.Pro8691=)
6g.152122638G>TCA366089184ESR1,SYNE1c.2726C>A (p.Pro909Gln)
c.26192C>A (p.Pro8731Gln)
c.26048C>A (p.Pro8683Gln)
c.1535C>A
c.1910C>A
c.1777C>A
c.2042C>A (n.2042C>A)
c.24977C>A (p.Pro8326Gln)
n.2940C>A
c.4968C>A (n.4968C>A)
n.9884C>A
c.4071C>A (n.4071C>A)
n.9776C>A
c.851-2628G>T (n.851-2628G>T)
n.2806C>A
n.6829C>A
n.2970C>A
c.2657C>A (p.Pro886Gln)
c.26339C>A (p.Pro8780Gln)
c.26327C>A (p.Pro8776Gln)
c.26318C>A (p.Pro8773Gln)
c.26297C>A (p.Pro8766Gln)
c.26288C>A (p.Pro8763Gln)
c.26282C>A (p.Pro8761Gln)
c.26270C>A (p.Pro8757Gln)
c.26267C>A (p.Pro8756Gln)
c.26228C>A (p.Pro8743Gln)
c.26213C>A (p.Pro8738Gln)
c.26198C>A (p.Pro8733Gln)
c.26186C>A (p.Pro8729Gln)
c.26183C>A (p.Pro8728Gln)
c.26180C>A (p.Pro8727Gln)
c.*3C>A (n.*3C>A)
c.26336C>A (p.Pro8779Gln)
c.26324C>A (p.Pro8775Gln)
c.26174C>A (p.Pro8725Gln)
c.24614C>A (p.Pro8205Gln)
c.24107C>A (p.Pro8036Gln)
c.19574C>A (p.Pro6525Gln)
c.26312C>A (p.Pro8771Gln)
c.26261C>A (p.Pro8754Gln)
c.26225C>A (p.Pro8742Gln)
c.26072C>A (p.Pro8691Gln)
6g.152122639G>ACA366089185ESR1,SYNE1c.2725C>T (p.Pro909Ser)
c.26191C>T (p.Pro8731Ser)
c.26047C>T (p.Pro8683Ser)
c.1534C>T
c.1909C>T
c.1776C>T
c.2041C>T (n.2041C>T)
c.24976C>T (p.Pro8326Ser)
n.2939C>T
c.4967C>T (n.4967C>T)
n.9883C>T
c.4070C>T (n.4070C>T)
n.9775C>T
c.851-2627G>A (n.851-2627G>A)
n.2805C>T
n.6828C>T
n.2969C>T
c.2656C>T (p.Pro886Ser)
c.26338C>T (p.Pro8780Ser)
c.26326C>T (p.Pro8776Ser)
c.26317C>T (p.Pro8773Ser)
c.26296C>T (p.Pro8766Ser)
c.26287C>T (p.Pro8763Ser)
c.26281C>T (p.Pro8761Ser)
c.26269C>T (p.Pro8757Ser)
c.26266C>T (p.Pro8756Ser)
c.26227C>T (p.Pro8743Ser)
c.26212C>T (p.Pro8738Ser)
c.26197C>T (p.Pro8733Ser)
c.26185C>T (p.Pro8729Ser)
c.26182C>T (p.Pro8728Ser)
c.26179C>T (p.Pro8727Ser)
c.*2C>T (n.*2C>T)
c.26335C>T (p.Pro8779Ser)
c.26323C>T (p.Pro8775Ser)
c.26173C>T (p.Pro8725Ser)
c.24613C>T (p.Pro8205Ser)
c.24106C>T (p.Pro8036Ser)
c.19573C>T (p.Pro6525Ser)
c.26311C>T (p.Pro8771Ser)
c.26260C>T (p.Pro8754Ser)
c.26224C>T (p.Pro8742Ser)
c.26071C>T (p.Pro8691Ser)
6g.152122639G>CCA366089186ESR1,SYNE1c.2725C>G (p.Pro909Ala)
c.26191C>G (p.Pro8731Ala)
c.26047C>G (p.Pro8683Ala)
c.1534C>G
c.1909C>G
c.1776C>G
c.2041C>G (n.2041C>G)
c.24976C>G (p.Pro8326Ala)
n.2939C>G
c.4967C>G (n.4967C>G)
n.9883C>G
c.4070C>G (n.4070C>G)
n.9775C>G
c.851-2627G>C (n.851-2627G>C)
n.2805C>G
n.6828C>G
n.2969C>G
c.2656C>G (p.Pro886Ala)
c.26338C>G (p.Pro8780Ala)
c.26326C>G (p.Pro8776Ala)
c.26317C>G (p.Pro8773Ala)
c.26296C>G (p.Pro8766Ala)
c.26287C>G (p.Pro8763Ala)
c.26281C>G (p.Pro8761Ala)
c.26269C>G (p.Pro8757Ala)
c.26266C>G (p.Pro8756Ala)
c.26227C>G (p.Pro8743Ala)
c.26212C>G (p.Pro8738Ala)
c.26197C>G (p.Pro8733Ala)
c.26185C>G (p.Pro8729Ala)
c.26182C>G (p.Pro8728Ala)
c.26179C>G (p.Pro8727Ala)
c.*2C>G (n.*2C>G)
c.26335C>G (p.Pro8779Ala)
c.26323C>G (p.Pro8775Ala)
c.26173C>G (p.Pro8725Ala)
c.24613C>G (p.Pro8205Ala)
c.24106C>G (p.Pro8036Ala)
c.19573C>G (p.Pro6525Ala)
c.26311C>G (p.Pro8771Ala)
c.26260C>G (p.Pro8754Ala)
c.26224C>G (p.Pro8742Ala)
c.26071C>G (p.Pro8691Ala)
6g.152122639G>TCA366089187ESR1,SYNE1c.2725C>A (p.Pro909Thr)
c.26191C>A (p.Pro8731Thr)
c.26047C>A (p.Pro8683Thr)
c.1534C>A
c.1909C>A
c.1776C>A
c.2041C>A (n.2041C>A)
c.24976C>A (p.Pro8326Thr)
n.2939C>A
c.4967C>A (n.4967C>A)
n.9883C>A
c.4070C>A (n.4070C>A)
n.9775C>A
c.851-2627G>T (n.851-2627G>T)
n.2805C>A
n.6828C>A
n.2969C>A
c.2656C>A (p.Pro886Thr)
c.26338C>A (p.Pro8780Thr)
c.26326C>A (p.Pro8776Thr)
c.26317C>A (p.Pro8773Thr)
c.26296C>A (p.Pro8766Thr)
c.26287C>A (p.Pro8763Thr)
c.26281C>A (p.Pro8761Thr)
c.26269C>A (p.Pro8757Thr)
c.26266C>A (p.Pro8756Thr)
c.26227C>A (p.Pro8743Thr)
c.26212C>A (p.Pro8738Thr)
c.26197C>A (p.Pro8733Thr)
c.26185C>A (p.Pro8729Thr)
c.26182C>A (p.Pro8728Thr)
c.26179C>A (p.Pro8727Thr)
c.*2C>A (n.*2C>A)
c.26335C>A (p.Pro8779Thr)
c.26323C>A (p.Pro8775Thr)
c.26173C>A (p.Pro8725Thr)
c.24613C>A (p.Pro8205Thr)
c.24106C>A (p.Pro8036Thr)
c.19573C>A (p.Pro6525Thr)
c.26311C>A (p.Pro8771Thr)
c.26260C>A (p.Pro8754Thr)
c.26224C>A (p.Pro8742Thr)
c.26071C>A (p.Pro8691Thr)
 gnomAD v4
6g.152122640C>ACA366089188ESR1,SYNE1c.2724G>T (p.Glu908Asp)
c.26190G>T (p.Glu8730Asp)
c.26046G>T (p.Glu8682Asp)
c.1533G>T
c.1908G>T
c.1775G>T
c.2040G>T (n.2040G>T)
c.24975G>T (p.Glu8325Asp)
n.2938G>T
c.4966G>T (n.4966G>T)
n.9882G>T
c.4069G>T (n.4069G>T)
n.9774G>T
c.851-2626C>A (n.851-2626C>A)
n.2804G>T
n.6827G>T
n.2968G>T
c.2655G>T (p.Glu885Asp)
c.26337G>T (p.Glu8779Asp)
c.26325G>T (p.Glu8775Asp)
c.26316G>T (p.Glu8772Asp)
c.26295G>T (p.Glu8765Asp)
c.26286G>T (p.Glu8762Asp)
c.26280G>T (p.Glu8760Asp)
c.26268G>T (p.Glu8756Asp)
c.26265G>T (p.Glu8755Asp)
c.26226G>T (p.Glu8742Asp)
c.26211G>T (p.Glu8737Asp)
c.26196G>T (p.Glu8732Asp)
c.26184G>T (p.Glu8728Asp)
c.26181G>T (p.Glu8727Asp)
c.26178G>T (p.Glu8726Asp)
c.*1G>T (n.*1G>T)
c.26334G>T (p.Glu8778Asp)
c.26322G>T (p.Glu8774Asp)
c.26172G>T (p.Glu8724Asp)
c.24612G>T (p.Glu8204Asp)
c.24105G>T (p.Glu8035Asp)
c.19572G>T (p.Glu6524Asp)
c.26310G>T (p.Glu8770Asp)
c.26259G>T (p.Glu8753Asp)
c.26223G>T (p.Glu8741Asp)
c.26070G>T (p.Glu8690Asp)
6g.152122640C=CA1673189231ESR1,SYNE1c.2724G= (p.Glu908=)
c.26190G= (p.Glu8730=)
c.26046G= (p.Glu8682=)
c.1533G=
c.1908G=
c.1775G=
c.2040G= (n.2040G=)
c.24975G= (p.Glu8325=)
n.2938G=
c.4966G= (n.4966G=)
n.9882G=
c.4069G= (n.4069G=)
n.9774G=
c.851-2626C= (n.851-2626C=)
n.2804G=
n.6827G=
n.2968G=
c.2655G= (p.Glu885=)
c.26337G= (p.Glu8779=)
c.26325G= (p.Glu8775=)
c.26316G= (p.Glu8772=)
c.26295G= (p.Glu8765=)
c.26286G= (p.Glu8762=)
c.26280G= (p.Glu8760=)
c.26268G= (p.Glu8756=)
c.26265G= (p.Glu8755=)
c.26226G= (p.Glu8742=)
c.26211G= (p.Glu8737=)
c.26196G= (p.Glu8732=)
c.26184G= (p.Glu8728=)
c.26181G= (p.Glu8727=)
c.26178G= (p.Glu8726=)
c.*1G= (n.*1G=)
c.26334G= (p.Glu8778=)
c.26322G= (p.Glu8774=)
c.26172G= (p.Glu8724=)
c.24612G= (p.Glu8204=)
c.24105G= (p.Glu8035=)
c.19572G= (p.Glu6524=)
c.26310G= (p.Glu8770=)
c.26259G= (p.Glu8753=)
c.26223G= (p.Glu8741=)
c.26070G= (p.Glu8690=)
6g.152122640C>GCA366089189ESR1,SYNE1c.2724G>C (p.Glu908Asp)
c.26190G>C (p.Glu8730Asp)
c.26046G>C (p.Glu8682Asp)
c.1533G>C
c.1908G>C
c.1775G>C
c.2040G>C (n.2040G>C)
c.24975G>C (p.Glu8325Asp)
n.2938G>C
c.4966G>C (n.4966G>C)
n.9882G>C
c.4069G>C (n.4069G>C)
n.9774G>C
c.851-2626C>G (n.851-2626C>G)
n.2804G>C
n.6827G>C
n.2968G>C
c.2655G>C (p.Glu885Asp)
c.26337G>C (p.Glu8779Asp)
c.26325G>C (p.Glu8775Asp)
c.26316G>C (p.Glu8772Asp)
c.26295G>C (p.Glu8765Asp)
c.26286G>C (p.Glu8762Asp)
c.26280G>C (p.Glu8760Asp)
c.26268G>C (p.Glu8756Asp)
c.26265G>C (p.Glu8755Asp)
c.26226G>C (p.Glu8742Asp)
c.26211G>C (p.Glu8737Asp)
c.26196G>C (p.Glu8732Asp)
c.26184G>C (p.Glu8728Asp)
c.26181G>C (p.Glu8727Asp)
c.26178G>C (p.Glu8726Asp)
c.*1G>C (n.*1G>C)
c.26334G>C (p.Glu8778Asp)
c.26322G>C (p.Glu8774Asp)
c.26172G>C (p.Glu8724Asp)
c.24612G>C (p.Glu8204Asp)
c.24105G>C (p.Glu8035Asp)
c.19572G>C (p.Glu6524Asp)
c.26310G>C (p.Glu8770Asp)
c.26259G>C (p.Glu8753Asp)
c.26223G>C (p.Glu8741Asp)
c.26070G>C (p.Glu8690Asp)
6g.152122640C>TCA452969694ESR1,SYNE1c.2724G>A (p.Glu908=)
c.26190G>A (p.Glu8730=)
c.26046G>A (p.Glu8682=)
c.1533G>A
c.1908G>A
c.1775G>A
c.2040G>A (n.2040G>A)
c.24975G>A (p.Glu8325=)
n.2938G>A
c.4966G>A (n.4966G>A)
n.9882G>A
c.4069G>A (n.4069G>A)
n.9774G>A
c.851-2626C>T (n.851-2626C>T)
n.2804G>A
n.6827G>A
n.2968G>A
c.2655G>A (p.Glu885=)
c.26337G>A (p.Glu8779=)
c.26325G>A (p.Glu8775=)
c.26316G>A (p.Glu8772=)
c.26295G>A (p.Glu8765=)
c.26286G>A (p.Glu8762=)
c.26280G>A (p.Glu8760=)
c.26268G>A (p.Glu8756=)
c.26265G>A (p.Glu8755=)
c.26226G>A (p.Glu8742=)
c.26211G>A (p.Glu8737=)
c.26196G>A (p.Glu8732=)
c.26184G>A (p.Glu8728=)
c.26181G>A (p.Glu8727=)
c.26178G>A (p.Glu8726=)
c.*1G>A (n.*1G>A)
c.26334G>A (p.Glu8778=)
c.26322G>A (p.Glu8774=)
c.26172G>A (p.Glu8724=)
c.24612G>A (p.Glu8204=)
c.24105G>A (p.Glu8035=)
c.19572G>A (p.Glu6524=)
c.26310G>A (p.Glu8770=)
c.26259G>A (p.Glu8753=)
c.26223G>A (p.Glu8741=)
c.26070G>A (p.Glu8690=)
 dbSNP gnomAD v4
6g.152122641T>ACA366089192ESR1,SYNE1c.2723A>T (p.Glu908Val)
c.26189A>T (p.Glu8730Val)
c.26045A>T (p.Glu8682Val)
c.1532A>T
c.1907A>T
c.1774A>T
c.2039A>T (n.2039A>T)
c.24974A>T (p.Glu8325Val)
n.2937A>T
c.4965A>T (p.Ter1655Cys)
n.9881A>T
c.4068A>T (p.Ter1356Cys)
n.9773A>T
c.851-2625T>A (n.851-2625T>A)
n.2803A>T
n.6826A>T
n.2967A>T
c.2654A>T (p.Glu885Val)
c.26336A>T (p.Glu8779Val)
c.26324A>T (p.Glu8775Val)
c.26315A>T (p.Glu8772Val)
c.26294A>T (p.Glu8765Val)
c.26285A>T (p.Glu8762Val)
c.26279A>T (p.Glu8760Val)
c.26267A>T (p.Glu8756Val)
c.26264A>T (p.Glu8755Val)
c.26225A>T (p.Glu8742Val)
c.26210A>T (p.Glu8737Val)
c.26195A>T (p.Glu8732Val)
c.26183A>T (p.Glu8728Val)
c.26180A>T (p.Glu8727Val)
c.26177A>T (p.Glu8726Val)
c.26277A>T (p.Ter8759Cys)
c.26235A>T (p.Ter8745Cys)
c.26166A>T (p.Ter8722Cys)
c.26333A>T (p.Glu8778Val)
c.26321A>T (p.Glu8774Val)
c.26171A>T (p.Glu8724Val)
c.24611A>T (p.Glu8204Val)
c.24104A>T (p.Glu8035Val)
c.19571A>T (p.Glu6524Val)
c.2736A>T (p.Ter912Cys)
c.26309A>T (p.Glu8770Val)
c.26258A>T (p.Glu8753Val)
c.26222A>T (p.Glu8741Val)
c.26069A>T (p.Glu8690Val)
c.26208A>T (p.Ter8736Cys)
c.26163A>T (p.Ter8721Cys)
c.26151A>T (p.Ter8717Cys)
6g.152122641T>CCA366089191ESR1,SYNE1c.2723A>G (p.Glu908Gly)
c.26189A>G (p.Glu8730Gly)
c.26045A>G (p.Glu8682Gly)
c.1532A>G
c.1907A>G
c.1774A>G
c.2039A>G (n.2039A>G)
c.24974A>G (p.Glu8325Gly)
n.2937A>G
c.4965A>G (p.Ter1655Trp)
n.9881A>G
c.4068A>G (p.Ter1356Trp)
n.9773A>G
c.851-2625T>C (n.851-2625T>C)
n.2803A>G
n.6826A>G
n.2967A>G
c.2654A>G (p.Glu885Gly)
c.26336A>G (p.Glu8779Gly)
c.26324A>G (p.Glu8775Gly)
c.26315A>G (p.Glu8772Gly)
c.26294A>G (p.Glu8765Gly)
c.26285A>G (p.Glu8762Gly)
c.26279A>G (p.Glu8760Gly)
c.26267A>G (p.Glu8756Gly)
c.26264A>G (p.Glu8755Gly)
c.26225A>G (p.Glu8742Gly)
c.26210A>G (p.Glu8737Gly)
c.26195A>G (p.Glu8732Gly)
c.26183A>G (p.Glu8728Gly)
c.26180A>G (p.Glu8727Gly)
c.26177A>G (p.Glu8726Gly)
c.26277A>G (p.Ter8759Trp)
c.26235A>G (p.Ter8745Trp)
c.26166A>G (p.Ter8722Trp)
c.26333A>G (p.Glu8778Gly)
c.26321A>G (p.Glu8774Gly)
c.26171A>G (p.Glu8724Gly)
c.24611A>G (p.Glu8204Gly)
c.24104A>G (p.Glu8035Gly)
c.19571A>G (p.Glu6524Gly)
c.2736A>G (p.Ter912Trp)
c.26309A>G (p.Glu8770Gly)
c.26258A>G (p.Glu8753Gly)
c.26222A>G (p.Glu8741Gly)
c.26069A>G (p.Glu8690Gly)
c.26208A>G (p.Ter8736Trp)
c.26163A>G (p.Ter8721Trp)
c.26151A>G (p.Ter8717Trp)
6g.152122641T>GCA366089190ESR1,SYNE1c.2723A>C (p.Glu908Ala)
c.26189A>C (p.Glu8730Ala)
c.26045A>C (p.Glu8682Ala)
c.1532A>C
c.1907A>C
c.1774A>C
c.2039A>C (n.2039A>C)
c.24974A>C (p.Glu8325Ala)
n.2937A>C
c.4965A>C (p.Ter1655Cys)
n.9881A>C
c.4068A>C (p.Ter1356Cys)
n.9773A>C
c.851-2625T>G (n.851-2625T>G)
n.2803A>C
n.6826A>C
n.2967A>C
c.2654A>C (p.Glu885Ala)
c.26336A>C (p.Glu8779Ala)
c.26324A>C (p.Glu8775Ala)
c.26315A>C (p.Glu8772Ala)
c.26294A>C (p.Glu8765Ala)
c.26285A>C (p.Glu8762Ala)
c.26279A>C (p.Glu8760Ala)
c.26267A>C (p.Glu8756Ala)
c.26264A>C (p.Glu8755Ala)
c.26225A>C (p.Glu8742Ala)
c.26210A>C (p.Glu8737Ala)
c.26195A>C (p.Glu8732Ala)
c.26183A>C (p.Glu8728Ala)
c.26180A>C (p.Glu8727Ala)
c.26177A>C (p.Glu8726Ala)
c.26277A>C (p.Ter8759Cys)
c.26235A>C (p.Ter8745Cys)
c.26166A>C (p.Ter8722Cys)
c.26333A>C (p.Glu8778Ala)
c.26321A>C (p.Glu8774Ala)
c.26171A>C (p.Glu8724Ala)
c.24611A>C (p.Glu8204Ala)
c.24104A>C (p.Glu8035Ala)
c.19571A>C (p.Glu6524Ala)
c.2736A>C (p.Ter912Cys)
c.26309A>C (p.Glu8770Ala)
c.26258A>C (p.Glu8753Ala)
c.26222A>C (p.Glu8741Ala)
c.26069A>C (p.Glu8690Ala)
c.26208A>C (p.Ter8736Cys)
c.26163A>C (p.Ter8721Cys)
c.26151A>C (p.Ter8717Cys)
6g.152122642C>ACA366089193ESR1,SYNE1c.2722G>T (p.Glu908Ter)
c.26188G>T (p.Glu8730Ter)
c.26044G>T (p.Glu8682Ter)
c.1531G>T
c.1906G>T
c.1773G>T
c.2038G>T (n.2038G>T)
c.24973G>T (p.Glu8325Ter)
n.2936G>T
c.4964G>T (p.Ter1655Leu)
n.9880G>T
c.4067G>T (p.Ter1356Leu)
n.9772G>T
c.851-2624C>A (n.851-2624C>A)
n.2802G>T
n.6825G>T
n.2966G>T
c.2653G>T (p.Glu885Ter)
c.26335G>T (p.Glu8779Ter)
c.26323G>T (p.Glu8775Ter)
c.26314G>T (p.Glu8772Ter)
c.26293G>T (p.Glu8765Ter)
c.26284G>T (p.Glu8762Ter)
c.26278G>T (p.Glu8760Ter)
c.26266G>T (p.Glu8756Ter)
c.26263G>T (p.Glu8755Ter)
c.26224G>T (p.Glu8742Ter)
c.26209G>T (p.Glu8737Ter)
c.26194G>T (p.Glu8732Ter)
c.26182G>T (p.Glu8728Ter)
c.26179G>T (p.Glu8727Ter)
c.26176G>T (p.Glu8726Ter)
c.26276G>T (p.Ter8759Leu)
c.26234G>T (p.Ter8745Leu)
c.26165G>T (p.Ter8722Leu)
c.26332G>T (p.Glu8778Ter)
c.26320G>T (p.Glu8774Ter)
c.26170G>T (p.Glu8724Ter)
c.24610G>T (p.Glu8204Ter)
c.24103G>T (p.Glu8035Ter)
c.19570G>T (p.Glu6524Ter)
c.2735G>T (p.Ter912Leu)
c.26308G>T (p.Glu8770Ter)
c.26257G>T (p.Glu8753Ter)
c.26221G>T (p.Glu8741Ter)
c.26068G>T (p.Glu8690Ter)
c.26207G>T (p.Ter8736Leu)
c.26162G>T (p.Ter8721Leu)
c.26150G>T (p.Ter8717Leu)
6g.152122642C>GCA366089195ESR1,SYNE1c.2722G>C (p.Glu908Gln)
c.26188G>C (p.Glu8730Gln)
c.26044G>C (p.Glu8682Gln)
c.1531G>C
c.1906G>C
c.1773G>C
c.2038G>C (n.2038G>C)
c.24973G>C (p.Glu8325Gln)
n.2936G>C
c.4964G>C (p.Ter1655Ser)
n.9880G>C
c.4067G>C (p.Ter1356Ser)
n.9772G>C
c.851-2624C>G (n.851-2624C>G)
n.2802G>C
n.6825G>C
n.2966G>C
c.2653G>C (p.Glu885Gln)
c.26335G>C (p.Glu8779Gln)
c.26323G>C (p.Glu8775Gln)
c.26314G>C (p.Glu8772Gln)
c.26293G>C (p.Glu8765Gln)
c.26284G>C (p.Glu8762Gln)
c.26278G>C (p.Glu8760Gln)
c.26266G>C (p.Glu8756Gln)
c.26263G>C (p.Glu8755Gln)
c.26224G>C (p.Glu8742Gln)
c.26209G>C (p.Glu8737Gln)
c.26194G>C (p.Glu8732Gln)
c.26182G>C (p.Glu8728Gln)
c.26179G>C (p.Glu8727Gln)
c.26176G>C (p.Glu8726Gln)
c.26276G>C (p.Ter8759Ser)
c.26234G>C (p.Ter8745Ser)
c.26165G>C (p.Ter8722Ser)
c.26332G>C (p.Glu8778Gln)
c.26320G>C (p.Glu8774Gln)
c.26170G>C (p.Glu8724Gln)
c.24610G>C (p.Glu8204Gln)
c.24103G>C (p.Glu8035Gln)
c.19570G>C (p.Glu6524Gln)
c.2735G>C (p.Ter912Ser)
c.26308G>C (p.Glu8770Gln)
c.26257G>C (p.Glu8753Gln)
c.26221G>C (p.Glu8741Gln)
c.26068G>C (p.Glu8690Gln)
c.26207G>C (p.Ter8736Ser)
c.26162G>C (p.Ter8721Ser)
c.26150G>C (p.Ter8717Ser)
6g.152122642C>TCA366089194ESR1,SYNE1c.2722G>A (p.Glu908Lys)
c.26188G>A (p.Glu8730Lys)
c.26044G>A (p.Glu8682Lys)
c.1531G>A
c.1906G>A
c.1773G>A
c.2038G>A (n.2038G>A)
c.24973G>A (p.Glu8325Lys)
n.2936G>A
c.4964G>A (p.Ter1655=)
n.9880G>A
c.4067G>A (p.Ter1356=)
n.9772G>A
c.851-2624C>T (n.851-2624C>T)
n.2802G>A
n.6825G>A
n.2966G>A
c.2653G>A (p.Glu885Lys)
c.26335G>A (p.Glu8779Lys)
c.26323G>A (p.Glu8775Lys)
c.26314G>A (p.Glu8772Lys)
c.26293G>A (p.Glu8765Lys)
c.26284G>A (p.Glu8762Lys)
c.26278G>A (p.Glu8760Lys)
c.26266G>A (p.Glu8756Lys)
c.26263G>A (p.Glu8755Lys)
c.26224G>A (p.Glu8742Lys)
c.26209G>A (p.Glu8737Lys)
c.26194G>A (p.Glu8732Lys)
c.26182G>A (p.Glu8728Lys)
c.26179G>A (p.Glu8727Lys)
c.26176G>A (p.Glu8726Lys)
c.26276G>A (p.Ter8759=)
c.26234G>A (p.Ter8745=)
c.26165G>A (p.Ter8722=)
c.26332G>A (p.Glu8778Lys)
c.26320G>A (p.Glu8774Lys)
c.26170G>A (p.Glu8724Lys)
c.24610G>A (p.Glu8204Lys)
c.24103G>A (p.Glu8035Lys)
c.19570G>A (p.Glu6524Lys)
c.2735G>A (p.Ter912=)
c.26308G>A (p.Glu8770Lys)
c.26257G>A (p.Glu8753Lys)
c.26221G>A (p.Glu8741Lys)
c.26068G>A (p.Glu8690Lys)
c.26207G>A (p.Ter8736=)
c.26162G>A (p.Ter8721=)
c.26150G>A (p.Ter8717=)
6g.152122643A>CCA366089196ESR1,SYNE1c.2721T>G (p.Ser907=)
c.26187T>G (p.Ser8729=)
c.26043T>G (p.Ser8681=)
c.1530T>G
c.1905T>G
c.1772T>G
c.2037T>G (n.2037T>G)
c.24972T>G (p.Ser8324=)
n.2935T>G
c.4963T>G (p.Ter1655Gly)
n.9879T>G
c.4066T>G (p.Ter1356Gly)
n.9771T>G
c.851-2623A>C (n.851-2623A>C)
n.2801T>G
n.6824T>G
n.2965T>G
c.2652T>G (p.Ser884=)
c.26334T>G (p.Ser8778=)
c.26322T>G (p.Ser8774=)
c.26313T>G (p.Ser8771=)
c.26292T>G (p.Ser8764=)
c.26283T>G (p.Ser8761=)
c.26277T>G (p.Ser8759=)
c.26265T>G (p.Ser8755=)
c.26262T>G (p.Ser8754=)
c.26223T>G (p.Ser8741=)
c.26208T>G (p.Ser8736=)
c.26193T>G (p.Ser8731=)
c.26181T>G (p.Ser8727=)
c.26178T>G (p.Ser8726=)
c.26175T>G (p.Ser8725=)
c.26275T>G (p.Ter8759Gly)
c.26233T>G (p.Ter8745Gly)
c.26164T>G (p.Ter8722Gly)
c.26331T>G (p.Ser8777=)
c.26319T>G (p.Ser8773=)
c.26169T>G (p.Ser8723=)
c.24609T>G (p.Ser8203=)
c.24102T>G (p.Ser8034=)
c.19569T>G (p.Ser6523=)
c.2734T>G (p.Ter912Gly)
c.26307T>G (p.Ser8769=)
c.26256T>G (p.Ser8752=)
c.26220T>G (p.Ser8740=)
c.26067T>G (p.Ser8689=)
c.26206T>G (p.Ter8736Gly)
c.26161T>G (p.Ter8721Gly)
c.26149T>G (p.Ter8717Gly)
 gnomAD v4
6g.152122643A>GCA366089197ESR1,SYNE1c.2721T>C (p.Ser907=)
c.26187T>C (p.Ser8729=)
c.26043T>C (p.Ser8681=)
c.1530T>C
c.1905T>C
c.1772T>C
c.2037T>C (n.2037T>C)
c.24972T>C (p.Ser8324=)
n.2935T>C
c.4963T>C (p.Ter1655Arg)
n.9879T>C
c.4066T>C (p.Ter1356Arg)
n.9771T>C
c.851-2623A>G (n.851-2623A>G)
n.2801T>C
n.6824T>C
n.2965T>C
c.2652T>C (p.Ser884=)
c.26334T>C (p.Ser8778=)
c.26322T>C (p.Ser8774=)
c.26313T>C (p.Ser8771=)
c.26292T>C (p.Ser8764=)
c.26283T>C (p.Ser8761=)
c.26277T>C (p.Ser8759=)
c.26265T>C (p.Ser8755=)
c.26262T>C (p.Ser8754=)
c.26223T>C (p.Ser8741=)
c.26208T>C (p.Ser8736=)
c.26193T>C (p.Ser8731=)
c.26181T>C (p.Ser8727=)
c.26178T>C (p.Ser8726=)
c.26175T>C (p.Ser8725=)
c.26275T>C (p.Ter8759Arg)
c.26233T>C (p.Ter8745Arg)
c.26164T>C (p.Ter8722Arg)
c.26331T>C (p.Ser8777=)
c.26319T>C (p.Ser8773=)
c.26169T>C (p.Ser8723=)
c.24609T>C (p.Ser8203=)
c.24102T>C (p.Ser8034=)
c.19569T>C (p.Ser6523=)
c.2734T>C (p.Ter912Arg)
c.26307T>C (p.Ser8769=)
c.26256T>C (p.Ser8752=)
c.26220T>C (p.Ser8740=)
c.26067T>C (p.Ser8689=)
c.26206T>C (p.Ter8736Arg)
c.26161T>C (p.Ter8721Arg)
c.26149T>C (p.Ter8717Arg)
6g.152122643A>TCA366089198ESR1,SYNE1c.2721T>A (p.Ser907=)
c.26187T>A (p.Ser8729=)
c.26043T>A (p.Ser8681=)
c.1530T>A
c.1905T>A
c.1772T>A
c.2037T>A (n.2037T>A)
c.24972T>A (p.Ser8324=)
n.2935T>A
c.4963T>A (p.Ter1655Arg)
n.9879T>A
c.4066T>A (p.Ter1356Arg)
n.9771T>A
c.851-2623A>T (n.851-2623A>T)
n.2801T>A
n.6824T>A
n.2965T>A
c.2652T>A (p.Ser884=)
c.26334T>A (p.Ser8778=)
c.26322T>A (p.Ser8774=)
c.26313T>A (p.Ser8771=)
c.26292T>A (p.Ser8764=)
c.26283T>A (p.Ser8761=)
c.26277T>A (p.Ser8759=)
c.26265T>A (p.Ser8755=)
c.26262T>A (p.Ser8754=)
c.26223T>A (p.Ser8741=)
c.26208T>A (p.Ser8736=)
c.26193T>A (p.Ser8731=)
c.26181T>A (p.Ser8727=)
c.26178T>A (p.Ser8726=)
c.26175T>A (p.Ser8725=)
c.26275T>A (p.Ter8759Arg)
c.26233T>A (p.Ter8745Arg)
c.26164T>A (p.Ter8722Arg)
c.26331T>A (p.Ser8777=)
c.26319T>A (p.Ser8773=)
c.26169T>A (p.Ser8723=)
c.24609T>A (p.Ser8203=)
c.24102T>A (p.Ser8034=)
c.19569T>A (p.Ser6523=)
c.2734T>A (p.Ter912Arg)
c.26307T>A (p.Ser8769=)
c.26256T>A (p.Ser8752=)
c.26220T>A (p.Ser8740=)
c.26067T>A (p.Ser8689=)
c.26206T>A (p.Ter8736Arg)
c.26161T>A (p.Ter8721Arg)
c.26149T>A (p.Ter8717Arg)
6g.152122644G>ACA366089199ESR1,SYNE1c.2720C>T (p.Ser907Phe)
c.26186C>T (p.Ser8729Phe)
c.26042C>T (p.Ser8681Phe)
c.1529C>T
c.1904C>T
c.1771C>T
c.2036C>T (n.2036C>T)
c.24971C>T (p.Ser8324Phe)
n.2934C>T
c.4962C>T (p.Phe1654=)
n.9878C>T
c.4065C>T (p.Phe1355=)
n.9770C>T
c.851-2622G>A (n.851-2622G>A)
n.2800C>T
n.6823C>T
n.2964C>T
c.2651C>T (p.Ser884Phe)
c.26333C>T (p.Ser8778Phe)
c.26321C>T (p.Ser8774Phe)
c.26312C>T (p.Ser8771Phe)
c.26291C>T (p.Ser8764Phe)
c.26282C>T (p.Ser8761Phe)
c.26276C>T (p.Ser8759Phe)
c.26264C>T (p.Ser8755Phe)
c.26261C>T (p.Ser8754Phe)
c.26222C>T (p.Ser8741Phe)
c.26207C>T (p.Ser8736Phe)
c.26192C>T (p.Ser8731Phe)
c.26180C>T (p.Ser8727Phe)
c.26177C>T (p.Ser8726Phe)
c.26174C>T (p.Ser8725Phe)
c.26274C>T (p.Phe8758=)
c.26232C>T (p.Phe8744=)
c.26163C>T (p.Phe8721=)
c.26330C>T (p.Ser8777Phe)
c.26318C>T (p.Ser8773Phe)
c.26168C>T (p.Ser8723Phe)
c.24608C>T (p.Ser8203Phe)
c.24101C>T (p.Ser8034Phe)
c.19568C>T (p.Ser6523Phe)
c.2733C>T (p.Phe911=)
c.26306C>T (p.Ser8769Phe)
c.26255C>T (p.Ser8752Phe)
c.26219C>T (p.Ser8740Phe)
c.26066C>T (p.Ser8689Phe)
c.26205C>T (p.Phe8735=)
c.26160C>T (p.Phe8720=)
c.26148C>T (p.Phe8716=)
6g.152122644G>CCA366089200ESR1,SYNE1c.2720C>G (p.Ser907Cys)
c.26186C>G (p.Ser8729Cys)
c.26042C>G (p.Ser8681Cys)
c.1529C>G
c.1904C>G
c.1771C>G
c.2036C>G (n.2036C>G)
c.24971C>G (p.Ser8324Cys)
n.2934C>G
c.4962C>G (p.Phe1654Leu)
n.9878C>G
c.4065C>G (p.Phe1355Leu)
n.9770C>G
c.851-2622G>C (n.851-2622G>C)
n.2800C>G
n.6823C>G
n.2964C>G
c.2651C>G (p.Ser884Cys)
c.26333C>G (p.Ser8778Cys)
c.26321C>G (p.Ser8774Cys)
c.26312C>G (p.Ser8771Cys)
c.26291C>G (p.Ser8764Cys)
c.26282C>G (p.Ser8761Cys)
c.26276C>G (p.Ser8759Cys)
c.26264C>G (p.Ser8755Cys)
c.26261C>G (p.Ser8754Cys)
c.26222C>G (p.Ser8741Cys)
c.26207C>G (p.Ser8736Cys)
c.26192C>G (p.Ser8731Cys)
c.26180C>G (p.Ser8727Cys)
c.26177C>G (p.Ser8726Cys)
c.26174C>G (p.Ser8725Cys)
c.26274C>G (p.Phe8758Leu)
c.26232C>G (p.Phe8744Leu)
c.26163C>G (p.Phe8721Leu)
c.26330C>G (p.Ser8777Cys)
c.26318C>G (p.Ser8773Cys)
c.26168C>G (p.Ser8723Cys)
c.24608C>G (p.Ser8203Cys)
c.24101C>G (p.Ser8034Cys)
c.19568C>G (p.Ser6523Cys)
c.2733C>G (p.Phe911Leu)
c.26306C>G (p.Ser8769Cys)
c.26255C>G (p.Ser8752Cys)
c.26219C>G (p.Ser8740Cys)
c.26066C>G (p.Ser8689Cys)
c.26205C>G (p.Phe8735Leu)
c.26160C>G (p.Phe8720Leu)
c.26148C>G (p.Phe8716Leu)
6g.152122644G>TCA366089201ESR1,SYNE1c.2720C>A (p.Ser907Tyr)
c.26186C>A (p.Ser8729Tyr)
c.26042C>A (p.Ser8681Tyr)
c.1529C>A
c.1904C>A
c.1771C>A
c.2036C>A (n.2036C>A)
c.24971C>A (p.Ser8324Tyr)
n.2934C>A
c.4962C>A (p.Phe1654Leu)
n.9878C>A
c.4065C>A (p.Phe1355Leu)
n.9770C>A
c.851-2622G>T (n.851-2622G>T)
n.2800C>A
n.6823C>A
n.2964C>A
c.2651C>A (p.Ser884Tyr)
c.26333C>A (p.Ser8778Tyr)
c.26321C>A (p.Ser8774Tyr)
c.26312C>A (p.Ser8771Tyr)
c.26291C>A (p.Ser8764Tyr)
c.26282C>A (p.Ser8761Tyr)
c.26276C>A (p.Ser8759Tyr)
c.26264C>A (p.Ser8755Tyr)
c.26261C>A (p.Ser8754Tyr)
c.26222C>A (p.Ser8741Tyr)
c.26207C>A (p.Ser8736Tyr)
c.26192C>A (p.Ser8731Tyr)
c.26180C>A (p.Ser8727Tyr)
c.26177C>A (p.Ser8726Tyr)
c.26174C>A (p.Ser8725Tyr)
c.26274C>A (p.Phe8758Leu)
c.26232C>A (p.Phe8744Leu)
c.26163C>A (p.Phe8721Leu)
c.26330C>A (p.Ser8777Tyr)
c.26318C>A (p.Ser8773Tyr)
c.26168C>A (p.Ser8723Tyr)
c.24608C>A (p.Ser8203Tyr)
c.24101C>A (p.Ser8034Tyr)
c.19568C>A (p.Ser6523Tyr)
c.2733C>A (p.Phe911Leu)
c.26306C>A (p.Ser8769Tyr)
c.26255C>A (p.Ser8752Tyr)
c.26219C>A (p.Ser8740Tyr)
c.26066C>A (p.Ser8689Tyr)
c.26205C>A (p.Phe8735Leu)
c.26160C>A (p.Phe8720Leu)
c.26148C>A (p.Phe8716Leu)
6g.152122645A=CA1673189237ESR1,SYNE1c.2719T= (p.Ser907=)
c.26185T= (p.Ser8729=)
c.26041T= (p.Ser8681=)
c.1528T=
c.1903T=
c.1770T=
c.2035T= (n.2035T=)
c.24970T= (p.Ser8324=)
n.2933T=
c.4961T= (p.Phe1654=)
n.9877T=
c.4064T= (p.Phe1355=)
n.9769T=
c.851-2621A= (n.851-2621A=)
n.2799T=
n.6822T=
n.2963T=
c.2650T= (p.Ser884=)
c.26332T= (p.Ser8778=)
c.26320T= (p.Ser8774=)
c.26311T= (p.Ser8771=)
c.26290T= (p.Ser8764=)
c.26281T= (p.Ser8761=)
c.26275T= (p.Ser8759=)
c.26263T= (p.Ser8755=)
c.26260T= (p.Ser8754=)
c.26221T= (p.Ser8741=)
c.26206T= (p.Ser8736=)
c.26191T= (p.Ser8731=)
c.26179T= (p.Ser8727=)
c.26176T= (p.Ser8726=)
c.26173T= (p.Ser8725=)
c.26273T= (p.Phe8758=)
c.26231T= (p.Phe8744=)
c.26162T= (p.Phe8721=)
c.26329T= (p.Ser8777=)
c.26317T= (p.Ser8773=)
c.26167T= (p.Ser8723=)
c.24607T= (p.Ser8203=)
c.24100T= (p.Ser8034=)
c.19567T= (p.Ser6523=)
c.2732T= (p.Phe911=)
c.26305T= (p.Ser8769=)
c.26254T= (p.Ser8752=)
c.26218T= (p.Ser8740=)
c.26065T= (p.Ser8689=)
c.26204T= (p.Phe8735=)
c.26159T= (p.Phe8720=)
c.26147T= (p.Phe8716=)
6g.152122645A>CCA366089202ESR1,SYNE1c.2719T>G (p.Ser907Ala)
c.26185T>G (p.Ser8729Ala)
c.26041T>G (p.Ser8681Ala)
c.1528T>G
c.1903T>G
c.1770T>G
c.2035T>G (n.2035T>G)
c.24970T>G (p.Ser8324Ala)
n.2933T>G
c.4961T>G (p.Phe1654Cys)
n.9877T>G
c.4064T>G (p.Phe1355Cys)
n.9769T>G
c.851-2621A>C (n.851-2621A>C)
n.2799T>G
n.6822T>G
n.2963T>G
c.2650T>G (p.Ser884Ala)
c.26332T>G (p.Ser8778Ala)
c.26320T>G (p.Ser8774Ala)
c.26311T>G (p.Ser8771Ala)
c.26290T>G (p.Ser8764Ala)
c.26281T>G (p.Ser8761Ala)
c.26275T>G (p.Ser8759Ala)
c.26263T>G (p.Ser8755Ala)
c.26260T>G (p.Ser8754Ala)
c.26221T>G (p.Ser8741Ala)
c.26206T>G (p.Ser8736Ala)
c.26191T>G (p.Ser8731Ala)
c.26179T>G (p.Ser8727Ala)
c.26176T>G (p.Ser8726Ala)
c.26173T>G (p.Ser8725Ala)
c.26273T>G (p.Phe8758Cys)
c.26231T>G (p.Phe8744Cys)
c.26162T>G (p.Phe8721Cys)
c.26329T>G (p.Ser8777Ala)
c.26317T>G (p.Ser8773Ala)
c.26167T>G (p.Ser8723Ala)
c.24607T>G (p.Ser8203Ala)
c.24100T>G (p.Ser8034Ala)
c.19567T>G (p.Ser6523Ala)
c.2732T>G (p.Phe911Cys)
c.26305T>G (p.Ser8769Ala)
c.26254T>G (p.Ser8752Ala)
c.26218T>G (p.Ser8740Ala)
c.26065T>G (p.Ser8689Ala)
c.26204T>G (p.Phe8735Cys)
c.26159T>G (p.Phe8720Cys)
c.26147T>G (p.Phe8716Cys)
6g.152122645A>GCA366089203ESR1,SYNE1c.2719T>C (p.Ser907Pro)
c.26185T>C (p.Ser8729Pro)
c.26041T>C (p.Ser8681Pro)
c.1528T>C
c.1903T>C
c.1770T>C
c.2035T>C (n.2035T>C)
c.24970T>C (p.Ser8324Pro)
n.2933T>C
c.4961T>C (p.Phe1654Ser)
n.9877T>C
c.4064T>C (p.Phe1355Ser)
n.9769T>C
c.851-2621A>G (n.851-2621A>G)
n.2799T>C
n.6822T>C
n.2963T>C
c.2650T>C (p.Ser884Pro)
c.26332T>C (p.Ser8778Pro)
c.26320T>C (p.Ser8774Pro)
c.26311T>C (p.Ser8771Pro)
c.26290T>C (p.Ser8764Pro)
c.26281T>C (p.Ser8761Pro)
c.26275T>C (p.Ser8759Pro)
c.26263T>C (p.Ser8755Pro)
c.26260T>C (p.Ser8754Pro)
c.26221T>C (p.Ser8741Pro)
c.26206T>C (p.Ser8736Pro)
c.26191T>C (p.Ser8731Pro)
c.26179T>C (p.Ser8727Pro)
c.26176T>C (p.Ser8726Pro)
c.26173T>C (p.Ser8725Pro)
c.26273T>C (p.Phe8758Ser)
c.26231T>C (p.Phe8744Ser)
c.26162T>C (p.Phe8721Ser)
c.26329T>C (p.Ser8777Pro)
c.26317T>C (p.Ser8773Pro)
c.26167T>C (p.Ser8723Pro)
c.24607T>C (p.Ser8203Pro)
c.24100T>C (p.Ser8034Pro)
c.19567T>C (p.Ser6523Pro)
c.2732T>C (p.Phe911Ser)
c.26305T>C (p.Ser8769Pro)
c.26254T>C (p.Ser8752Pro)
c.26218T>C (p.Ser8740Pro)
c.26065T>C (p.Ser8689Pro)
c.26204T>C (p.Phe8735Ser)
c.26159T>C (p.Phe8720Ser)
c.26147T>C (p.Phe8716Ser)
 dbSNP gnomAD v4
6g.152122645A>TCA366089204ESR1,SYNE1c.2719T>A (p.Ser907Thr)
c.26185T>A (p.Ser8729Thr)
c.26041T>A (p.Ser8681Thr)
c.1528T>A
c.1903T>A
c.1770T>A
c.2035T>A (n.2035T>A)
c.24970T>A (p.Ser8324Thr)
n.2933T>A
c.4961T>A (p.Phe1654Tyr)
n.9877T>A
c.4064T>A (p.Phe1355Tyr)
n.9769T>A
c.851-2621A>T (n.851-2621A>T)
n.2799T>A
n.6822T>A
n.2963T>A
c.2650T>A (p.Ser884Thr)
c.26332T>A (p.Ser8778Thr)
c.26320T>A (p.Ser8774Thr)
c.26311T>A (p.Ser8771Thr)
c.26290T>A (p.Ser8764Thr)
c.26281T>A (p.Ser8761Thr)
c.26275T>A (p.Ser8759Thr)
c.26263T>A (p.Ser8755Thr)
c.26260T>A (p.Ser8754Thr)
c.26221T>A (p.Ser8741Thr)
c.26206T>A (p.Ser8736Thr)
c.26191T>A (p.Ser8731Thr)
c.26179T>A (p.Ser8727Thr)
c.26176T>A (p.Ser8726Thr)
c.26173T>A (p.Ser8725Thr)
c.26273T>A (p.Phe8758Tyr)
c.26231T>A (p.Phe8744Tyr)
c.26162T>A (p.Phe8721Tyr)
c.26329T>A (p.Ser8777Thr)
c.26317T>A (p.Ser8773Thr)
c.26167T>A (p.Ser8723Thr)
c.24607T>A (p.Ser8203Thr)
c.24100T>A (p.Ser8034Thr)
c.19567T>A (p.Ser6523Thr)
c.2732T>A (p.Phe911Tyr)
c.26305T>A (p.Ser8769Thr)
c.26254T>A (p.Ser8752Thr)
c.26218T>A (p.Ser8740Thr)
c.26065T>A (p.Ser8689Thr)
c.26204T>A (p.Phe8735Tyr)
c.26159T>A (p.Phe8720Tyr)
c.26147T>A (p.Phe8716Tyr)
6g.152122646A=CA1673189244ESR1,SYNE1c.2718T= (p.Leu906=)
c.26184T= (p.Leu8728=)
c.26040T= (p.Leu8680=)
c.1527T=
c.1902T=
c.1769T=
c.2034T= (n.2034T=)
c.24969T= (p.Leu8323=)
n.2932T=
c.4960T= (p.Phe1654=)
n.9876T=
c.4063T= (p.Phe1355=)
n.9768T=
c.851-2620A= (n.851-2620A=)
n.2798T=
n.6821T=
n.2962T=
c.2649T= (p.Leu883=)
c.26331T= (p.Leu8777=)
c.26319T= (p.Leu8773=)
c.26310T= (p.Leu8770=)
c.26289T= (p.Leu8763=)
c.26280T= (p.Leu8760=)
c.26274T= (p.Leu8758=)
c.26262T= (p.Leu8754=)
c.26259T= (p.Leu8753=)
c.26220T= (p.Leu8740=)
c.26205T= (p.Leu8735=)
c.26190T= (p.Leu8730=)
c.26178T= (p.Leu8726=)
c.26175T= (p.Leu8725=)
c.26172T= (p.Leu8724=)
c.26272T= (p.Phe8758=)
c.26230T= (p.Phe8744=)
c.26161T= (p.Phe8721=)
c.26328T= (p.Leu8776=)
c.26316T= (p.Leu8772=)
c.26166T= (p.Leu8722=)
c.24606T= (p.Leu8202=)
c.24099T= (p.Leu8033=)
c.19566T= (p.Leu6522=)
c.2731T= (p.Phe911=)
c.26304T= (p.Leu8768=)
c.26253T= (p.Leu8751=)
c.26217T= (p.Leu8739=)
c.26064T= (p.Leu8688=)
c.26203T= (p.Phe8735=)
c.26158T= (p.Phe8720=)
c.26146T= (p.Phe8716=)
6g.152122646A>CCA366089205ESR1,SYNE1c.2718T>G (p.Leu906=)
c.26184T>G (p.Leu8728=)
c.26040T>G (p.Leu8680=)
c.1527T>G
c.1902T>G
c.1769T>G
c.2034T>G (n.2034T>G)
c.24969T>G (p.Leu8323=)
n.2932T>G
c.4960T>G (p.Phe1654Val)
n.9876T>G
c.4063T>G (p.Phe1355Val)
n.9768T>G
c.851-2620A>C (n.851-2620A>C)
n.2798T>G
n.6821T>G
n.2962T>G
c.2649T>G (p.Leu883=)
c.26331T>G (p.Leu8777=)
c.26319T>G (p.Leu8773=)
c.26310T>G (p.Leu8770=)
c.26289T>G (p.Leu8763=)
c.26280T>G (p.Leu8760=)
c.26274T>G (p.Leu8758=)
c.26262T>G (p.Leu8754=)
c.26259T>G (p.Leu8753=)
c.26220T>G (p.Leu8740=)
c.26205T>G (p.Leu8735=)
c.26190T>G (p.Leu8730=)
c.26178T>G (p.Leu8726=)
c.26175T>G (p.Leu8725=)
c.26172T>G (p.Leu8724=)
c.26272T>G (p.Phe8758Val)
c.26230T>G (p.Phe8744Val)
c.26161T>G (p.Phe8721Val)
c.26328T>G (p.Leu8776=)
c.26316T>G (p.Leu8772=)
c.26166T>G (p.Leu8722=)
c.24606T>G (p.Leu8202=)
c.24099T>G (p.Leu8033=)
c.19566T>G (p.Leu6522=)
c.2731T>G (p.Phe911Val)
c.26304T>G (p.Leu8768=)
c.26253T>G (p.Leu8751=)
c.26217T>G (p.Leu8739=)
c.26064T>G (p.Leu8688=)
c.26203T>G (p.Phe8735Val)
c.26158T>G (p.Phe8720Val)
c.26146T>G (p.Phe8716Val)
6g.152122646A>GCA150189612ESR1,SYNE1c.2718T>C (p.Leu906=)
c.26184T>C (p.Leu8728=)
c.26040T>C (p.Leu8680=)
c.1527T>C
c.1902T>C
c.1769T>C
c.2034T>C (n.2034T>C)
c.24969T>C (p.Leu8323=)
n.2932T>C
c.4960T>C (p.Phe1654Leu)
n.9876T>C
c.4063T>C (p.Phe1355Leu)
n.9768T>C
c.851-2620A>G (n.851-2620A>G)
n.2798T>C
n.6821T>C
n.2962T>C
c.2649T>C (p.Leu883=)
c.26331T>C (p.Leu8777=)
c.26319T>C (p.Leu8773=)
c.26310T>C (p.Leu8770=)
c.26289T>C (p.Leu8763=)
c.26280T>C (p.Leu8760=)
c.26274T>C (p.Leu8758=)
c.26262T>C (p.Leu8754=)
c.26259T>C (p.Leu8753=)
c.26220T>C (p.Leu8740=)
c.26205T>C (p.Leu8735=)
c.26190T>C (p.Leu8730=)
c.26178T>C (p.Leu8726=)
c.26175T>C (p.Leu8725=)
c.26172T>C (p.Leu8724=)
c.26272T>C (p.Phe8758Leu)
c.26230T>C (p.Phe8744Leu)
c.26161T>C (p.Phe8721Leu)
c.26328T>C (p.Leu8776=)
c.26316T>C (p.Leu8772=)
c.26166T>C (p.Leu8722=)
c.24606T>C (p.Leu8202=)
c.24099T>C (p.Leu8033=)
c.19566T>C (p.Leu6522=)
c.2731T>C (p.Phe911Leu)
c.26304T>C (p.Leu8768=)
c.26253T>C (p.Leu8751=)
c.26217T>C (p.Leu8739=)
c.26064T>C (p.Leu8688=)
c.26203T>C (p.Phe8735Leu)
c.26158T>C (p.Phe8720Leu)
c.26146T>C (p.Phe8716Leu)
 dbSNP gnomAD v4
6g.152122646A>TCA366089206ESR1,SYNE1c.2718T>A (p.Leu906=)
c.26184T>A (p.Leu8728=)
c.26040T>A (p.Leu8680=)
c.1527T>A
c.1902T>A
c.1769T>A
c.2034T>A (n.2034T>A)
c.24969T>A (p.Leu8323=)
n.2932T>A
c.4960T>A (p.Phe1654Ile)
n.9876T>A
c.4063T>A (p.Phe1355Ile)
n.9768T>A
c.851-2620A>T (n.851-2620A>T)
n.2798T>A
n.6821T>A
n.2962T>A
c.2649T>A (p.Leu883=)
c.26331T>A (p.Leu8777=)
c.26319T>A (p.Leu8773=)
c.26310T>A (p.Leu8770=)
c.26289T>A (p.Leu8763=)
c.26280T>A (p.Leu8760=)
c.26274T>A (p.Leu8758=)
c.26262T>A (p.Leu8754=)
c.26259T>A (p.Leu8753=)
c.26220T>A (p.Leu8740=)
c.26205T>A (p.Leu8735=)
c.26190T>A (p.Leu8730=)
c.26178T>A (p.Leu8726=)
c.26175T>A (p.Leu8725=)
c.26172T>A (p.Leu8724=)
c.26272T>A (p.Phe8758Ile)
c.26230T>A (p.Phe8744Ile)
c.26161T>A (p.Phe8721Ile)
c.26328T>A (p.Leu8776=)
c.26316T>A (p.Leu8772=)
c.26166T>A (p.Leu8722=)
c.24606T>A (p.Leu8202=)
c.24099T>A (p.Leu8033=)
c.19566T>A (p.Leu6522=)
c.2731T>A (p.Phe911Ile)
c.26304T>A (p.Leu8768=)
c.26253T>A (p.Leu8751=)
c.26217T>A (p.Leu8739=)
c.26064T>A (p.Leu8688=)
c.26203T>A (p.Phe8735Ile)
c.26158T>A (p.Phe8720Ile)
c.26146T>A (p.Phe8716Ile)
6g.152122647A>CCA366089209ESR1,SYNE1c.2717T>G (p.Leu906Arg)
c.26183T>G (p.Leu8728Arg)
c.26039T>G (p.Leu8680Arg)
c.1526T>G
c.1901T>G
c.1768T>G
c.2033T>G (n.2033T>G)
c.24968T>G (p.Leu8323Arg)
n.2931T>G
c.4959T>G (p.Pro1653=)
n.9875T>G
c.4062T>G (p.Pro1354=)
n.9767T>G
c.851-2619A>C (n.851-2619A>C)
n.2797T>G
n.6820T>G
n.2961T>G
c.2648T>G (p.Leu883Arg)
c.26330T>G (p.Leu8777Arg)
c.26318T>G (p.Leu8773Arg)
c.26309T>G (p.Leu8770Arg)
c.26288T>G (p.Leu8763Arg)
c.26279T>G (p.Leu8760Arg)
c.26273T>G (p.Leu8758Arg)
c.26261T>G (p.Leu8754Arg)
c.26258T>G (p.Leu8753Arg)
c.26219T>G (p.Leu8740Arg)
c.26204T>G (p.Leu8735Arg)
c.26189T>G (p.Leu8730Arg)
c.26177T>G (p.Leu8726Arg)
c.26174T>G (p.Leu8725Arg)
c.26171T>G (p.Leu8724Arg)
c.26271T>G (p.Pro8757=)
c.26229T>G (p.Pro8743=)
c.26160T>G (p.Pro8720=)
c.26327T>G (p.Leu8776Arg)
c.26315T>G (p.Leu8772Arg)
c.26165T>G (p.Leu8722Arg)
c.24605T>G (p.Leu8202Arg)
c.24098T>G (p.Leu8033Arg)
c.19565T>G (p.Leu6522Arg)
c.2730T>G (p.Pro910=)
c.26303T>G (p.Leu8768Arg)
c.26252T>G (p.Leu8751Arg)
c.26216T>G (p.Leu8739Arg)
c.26063T>G (p.Leu8688Arg)
c.26202T>G (p.Pro8734=)
c.26157T>G (p.Pro8719=)
c.26145T>G (p.Pro8715=)
6g.152122647A>GCA366089208ESR1,SYNE1c.2717T>C (p.Leu906Pro)
c.26183T>C (p.Leu8728Pro)
c.26039T>C (p.Leu8680Pro)
c.1526T>C
c.1901T>C
c.1768T>C
c.2033T>C (n.2033T>C)
c.24968T>C (p.Leu8323Pro)
n.2931T>C
c.4959T>C (p.Pro1653=)
n.9875T>C
c.4062T>C (p.Pro1354=)
n.9767T>C
c.851-2619A>G (n.851-2619A>G)
n.2797T>C
n.6820T>C
n.2961T>C
c.2648T>C (p.Leu883Pro)
c.26330T>C (p.Leu8777Pro)
c.26318T>C (p.Leu8773Pro)
c.26309T>C (p.Leu8770Pro)
c.26288T>C (p.Leu8763Pro)
c.26279T>C (p.Leu8760Pro)
c.26273T>C (p.Leu8758Pro)
c.26261T>C (p.Leu8754Pro)
c.26258T>C (p.Leu8753Pro)
c.26219T>C (p.Leu8740Pro)
c.26204T>C (p.Leu8735Pro)
c.26189T>C (p.Leu8730Pro)
c.26177T>C (p.Leu8726Pro)
c.26174T>C (p.Leu8725Pro)
c.26171T>C (p.Leu8724Pro)
c.26271T>C (p.Pro8757=)
c.26229T>C (p.Pro8743=)
c.26160T>C (p.Pro8720=)
c.26327T>C (p.Leu8776Pro)
c.26315T>C (p.Leu8772Pro)
c.26165T>C (p.Leu8722Pro)
c.24605T>C (p.Leu8202Pro)
c.24098T>C (p.Leu8033Pro)
c.19565T>C (p.Leu6522Pro)
c.2730T>C (p.Pro910=)
c.26303T>C (p.Leu8768Pro)
c.26252T>C (p.Leu8751Pro)
c.26216T>C (p.Leu8739Pro)
c.26063T>C (p.Leu8688Pro)
c.26202T>C (p.Pro8734=)
c.26157T>C (p.Pro8719=)
c.26145T>C (p.Pro8715=)
6g.152122647A>TCA366089207ESR1,SYNE1c.2717T>A (p.Leu906His)
c.26183T>A (p.Leu8728His)
c.26039T>A (p.Leu8680His)
c.1526T>A
c.1901T>A
c.1768T>A
c.2033T>A (n.2033T>A)
c.24968T>A (p.Leu8323His)
n.2931T>A
c.4959T>A (p.Pro1653=)
n.9875T>A
c.4062T>A (p.Pro1354=)
n.9767T>A
c.851-2619A>T (n.851-2619A>T)
n.2797T>A
n.6820T>A
n.2961T>A
c.2648T>A (p.Leu883His)
c.26330T>A (p.Leu8777His)
c.26318T>A (p.Leu8773His)
c.26309T>A (p.Leu8770His)
c.26288T>A (p.Leu8763His)
c.26279T>A (p.Leu8760His)
c.26273T>A (p.Leu8758His)
c.26261T>A (p.Leu8754His)
c.26258T>A (p.Leu8753His)
c.26219T>A (p.Leu8740His)
c.26204T>A (p.Leu8735His)
c.26189T>A (p.Leu8730His)
c.26177T>A (p.Leu8726His)
c.26174T>A (p.Leu8725His)
c.26171T>A (p.Leu8724His)
c.26271T>A (p.Pro8757=)
c.26229T>A (p.Pro8743=)
c.26160T>A (p.Pro8720=)
c.26327T>A (p.Leu8776His)
c.26315T>A (p.Leu8772His)
c.26165T>A (p.Leu8722His)
c.24605T>A (p.Leu8202His)
c.24098T>A (p.Leu8033His)
c.19565T>A (p.Leu6522His)
c.2730T>A (p.Pro910=)
c.26303T>A (p.Leu8768His)
c.26252T>A (p.Leu8751His)
c.26216T>A (p.Leu8739His)
c.26063T>A (p.Leu8688His)
c.26202T>A (p.Pro8734=)
c.26157T>A (p.Pro8719=)
c.26145T>A (p.Pro8715=)
6g.152122648G>ACA366089210ESR1,SYNE1c.2716C>T (p.Leu906Phe)
c.26182C>T (p.Leu8728Phe)
c.26038C>T (p.Leu8680Phe)
c.1525C>T
c.1900C>T
c.1767C>T
c.2032C>T (n.2032C>T)
c.24967C>T (p.Leu8323Phe)
n.2930C>T
c.4958C>T (p.Pro1653Leu)
n.9874C>T
c.4061C>T (p.Pro1354Leu)
n.9766C>T
c.851-2618G>A (n.851-2618G>A)
n.2796C>T
n.6819C>T
n.2960C>T
c.2647C>T (p.Leu883Phe)
c.26329C>T (p.Leu8777Phe)
c.26317C>T (p.Leu8773Phe)
c.26308C>T (p.Leu8770Phe)
c.26287C>T (p.Leu8763Phe)
c.26278C>T (p.Leu8760Phe)
c.26272C>T (p.Leu8758Phe)
c.26260C>T (p.Leu8754Phe)
c.26257C>T (p.Leu8753Phe)
c.26218C>T (p.Leu8740Phe)
c.26203C>T (p.Leu8735Phe)
c.26188C>T (p.Leu8730Phe)
c.26176C>T (p.Leu8726Phe)
c.26173C>T (p.Leu8725Phe)
c.26170C>T (p.Leu8724Phe)
c.26270C>T (p.Pro8757Leu)
c.26228C>T (p.Pro8743Leu)
c.26159C>T (p.Pro8720Leu)
c.26326C>T (p.Leu8776Phe)
c.26314C>T (p.Leu8772Phe)
c.26164C>T (p.Leu8722Phe)
c.24604C>T (p.Leu8202Phe)
c.24097C>T (p.Leu8033Phe)
c.19564C>T (p.Leu6522Phe)
c.2729C>T (p.Pro910Leu)
c.26302C>T (p.Leu8768Phe)
c.26251C>T (p.Leu8751Phe)
c.26215C>T (p.Leu8739Phe)
c.26062C>T (p.Leu8688Phe)
c.26201C>T (p.Pro8734Leu)
c.26156C>T (p.Pro8719Leu)
c.26144C>T (p.Pro8715Leu)
6g.152122648G>CCA366089211ESR1,SYNE1c.2716C>G (p.Leu906Val)
c.26182C>G (p.Leu8728Val)
c.26038C>G (p.Leu8680Val)
c.1525C>G
c.1900C>G
c.1767C>G
c.2032C>G (n.2032C>G)
c.24967C>G (p.Leu8323Val)
n.2930C>G
c.4958C>G (p.Pro1653Arg)
n.9874C>G
c.4061C>G (p.Pro1354Arg)
n.9766C>G
c.851-2618G>C (n.851-2618G>C)
n.2796C>G
n.6819C>G
n.2960C>G
c.2647C>G (p.Leu883Val)
c.26329C>G (p.Leu8777Val)
c.26317C>G (p.Leu8773Val)
c.26308C>G (p.Leu8770Val)
c.26287C>G (p.Leu8763Val)
c.26278C>G (p.Leu8760Val)
c.26272C>G (p.Leu8758Val)
c.26260C>G (p.Leu8754Val)
c.26257C>G (p.Leu8753Val)
c.26218C>G (p.Leu8740Val)
c.26203C>G (p.Leu8735Val)
c.26188C>G (p.Leu8730Val)
c.26176C>G (p.Leu8726Val)
c.26173C>G (p.Leu8725Val)
c.26170C>G (p.Leu8724Val)
c.26270C>G (p.Pro8757Arg)
c.26228C>G (p.Pro8743Arg)
c.26159C>G (p.Pro8720Arg)
c.26326C>G (p.Leu8776Val)
c.26314C>G (p.Leu8772Val)
c.26164C>G (p.Leu8722Val)
c.24604C>G (p.Leu8202Val)
c.24097C>G (p.Leu8033Val)
c.19564C>G (p.Leu6522Val)
c.2729C>G (p.Pro910Arg)
c.26302C>G (p.Leu8768Val)
c.26251C>G (p.Leu8751Val)
c.26215C>G (p.Leu8739Val)
c.26062C>G (p.Leu8688Val)
c.26201C>G (p.Pro8734Arg)
c.26156C>G (p.Pro8719Arg)
c.26144C>G (p.Pro8715Arg)
6g.152122648G>TCA366089212ESR1,SYNE1c.2716C>A (p.Leu906Ile)
c.26182C>A (p.Leu8728Ile)
c.26038C>A (p.Leu8680Ile)
c.1525C>A
c.1900C>A
c.1767C>A
c.2032C>A (n.2032C>A)
c.24967C>A (p.Leu8323Ile)
n.2930C>A
c.4958C>A (p.Pro1653His)
n.9874C>A
c.4061C>A (p.Pro1354His)
n.9766C>A
c.851-2618G>T (n.851-2618G>T)
n.2796C>A
n.6819C>A
n.2960C>A
c.2647C>A (p.Leu883Ile)
c.26329C>A (p.Leu8777Ile)
c.26317C>A (p.Leu8773Ile)
c.26308C>A (p.Leu8770Ile)
c.26287C>A (p.Leu8763Ile)
c.26278C>A (p.Leu8760Ile)
c.26272C>A (p.Leu8758Ile)
c.26260C>A (p.Leu8754Ile)
c.26257C>A (p.Leu8753Ile)
c.26218C>A (p.Leu8740Ile)
c.26203C>A (p.Leu8735Ile)
c.26188C>A (p.Leu8730Ile)
c.26176C>A (p.Leu8726Ile)
c.26173C>A (p.Leu8725Ile)
c.26170C>A (p.Leu8724Ile)
c.26270C>A (p.Pro8757His)
c.26228C>A (p.Pro8743His)
c.26159C>A (p.Pro8720His)
c.26326C>A (p.Leu8776Ile)
c.26314C>A (p.Leu8772Ile)
c.26164C>A (p.Leu8722Ile)
c.24604C>A (p.Leu8202Ile)
c.24097C>A (p.Leu8033Ile)
c.19564C>A (p.Leu6522Ile)
c.2729C>A (p.Pro910His)
c.26302C>A (p.Leu8768Ile)
c.26251C>A (p.Leu8751Ile)
c.26215C>A (p.Leu8739Ile)
c.26062C>A (p.Leu8688Ile)
c.26201C>A (p.Pro8734His)
c.26156C>A (p.Pro8719His)
c.26144C>A (p.Pro8715His)
6g.152122650delCA645564553ESR1,SYNE1c.2716del (p.Leu906PhefsTer?)
c.26182del (p.Leu8728PhefsTer?)
c.26038del (p.Leu8680PhefsTer?)
c.1525del
c.1900del
c.1767del
c.2032del (n.2032del)
c.24967del (p.Leu8323PhefsTer?)
n.2930del
c.4958del (p.Pro1653LeufsTer?)
n.9874del
c.4061del (p.Pro1354LeufsTer?)
n.9766del
c.851-2616del (n.851-2616del)
n.2796del
n.6819del
n.2960del
c.2647del (p.Leu883PhefsTer?)
c.26329del (p.Leu8777PhefsTer?)
c.26317del (p.Leu8773PhefsTer?)
c.26308del (p.Leu8770PhefsTer?)
c.26287del (p.Leu8763PhefsTer?)
c.26278del (p.Leu8760PhefsTer?)
c.26272del (p.Leu8758PhefsTer?)
c.26260del (p.Leu8754PhefsTer?)
c.26257del (p.Leu8753PhefsTer?)
c.26218del (p.Leu8740PhefsTer?)
c.26203del (p.Leu8735PhefsTer?)
c.26188del (p.Leu8730PhefsTer?)
c.26176del (p.Leu8726PhefsTer?)
c.26173del (p.Leu8725PhefsTer?)
c.26170del (p.Leu8724PhefsTer?)
c.26270del (p.Pro8757LeufsTer?)
c.26228del (p.Pro8743LeufsTer?)
c.26159del (p.Pro8720LeufsTer?)
c.26326del (p.Leu8776PhefsTer?)
c.26314del (p.Leu8772PhefsTer?)
c.26164del (p.Leu8722PhefsTer?)
c.24604del (p.Leu8202PhefsTer?)
c.24097del (p.Leu8033PhefsTer?)
c.19564del (p.Leu6522PhefsTer?)
c.2729del (p.Pro910LeufsTer?)
c.26302del (p.Leu8768PhefsTer?)
c.26251del (p.Leu8751PhefsTer?)
c.26215del (p.Leu8739PhefsTer?)
c.26062del (p.Leu8688PhefsTer?)
c.26201del (p.Pro8734LeufsTer?)
c.26156del (p.Pro8719LeufsTer?)
c.26144del (p.Pro8715LeufsTer?)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122649G>ACA4052611ESR1,SYNE1c.2715C>T (p.Ser905=)
c.26181C>T (p.Ser8727=)
c.26037C>T (p.Ser8679=)
c.1524C>T
c.1899C>T
c.1766C>T
c.2031C>T (n.2031C>T)
c.24966C>T (p.Ser8322=)
n.2929C>T
c.4957C>T (p.Pro1653Ser)
n.9873C>T
c.4060C>T (p.Pro1354Ser)
n.9765C>T
c.851-2617G>A (n.851-2617G>A)
n.2795C>T
n.6818C>T
n.2959C>T
c.2646C>T (p.Ser882=)
c.26328C>T (p.Ser8776=)
c.26316C>T (p.Ser8772=)
c.26307C>T (p.Ser8769=)
c.26286C>T (p.Ser8762=)
c.26277C>T (p.Ser8759=)
c.26271C>T (p.Ser8757=)
c.26259C>T (p.Ser8753=)
c.26256C>T (p.Ser8752=)
c.26217C>T (p.Ser8739=)
c.26202C>T (p.Ser8734=)
c.26187C>T (p.Ser8729=)
c.26175C>T (p.Ser8725=)
c.26172C>T (p.Ser8724=)
c.26169C>T (p.Ser8723=)
c.26269C>T (p.Pro8757Ser)
c.26227C>T (p.Pro8743Ser)
c.26158C>T (p.Pro8720Ser)
c.26325C>T (p.Ser8775=)
c.26313C>T (p.Ser8771=)
c.26163C>T (p.Ser8721=)
c.24603C>T (p.Ser8201=)
c.24096C>T (p.Ser8032=)
c.19563C>T (p.Ser6521=)
c.2728C>T (p.Pro910Ser)
c.26301C>T (p.Ser8767=)
c.26250C>T (p.Ser8750=)
c.26214C>T (p.Ser8738=)
c.26061C>T (p.Ser8687=)
c.26200C>T (p.Pro8734Ser)
c.26155C>T (p.Pro8719Ser)
c.26143C>T (p.Pro8715Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122649G>CCA366089213ESR1,SYNE1c.2715C>G (p.Ser905=)
c.26181C>G (p.Ser8727=)
c.26037C>G (p.Ser8679=)
c.1524C>G
c.1899C>G
c.1766C>G
c.2031C>G (n.2031C>G)
c.24966C>G (p.Ser8322=)
n.2929C>G
c.4957C>G (p.Pro1653Ala)
n.9873C>G
c.4060C>G (p.Pro1354Ala)
n.9765C>G
c.851-2617G>C (n.851-2617G>C)
n.2795C>G
n.6818C>G
n.2959C>G
c.2646C>G (p.Ser882=)
c.26328C>G (p.Ser8776=)
c.26316C>G (p.Ser8772=)
c.26307C>G (p.Ser8769=)
c.26286C>G (p.Ser8762=)
c.26277C>G (p.Ser8759=)
c.26271C>G (p.Ser8757=)
c.26259C>G (p.Ser8753=)
c.26256C>G (p.Ser8752=)
c.26217C>G (p.Ser8739=)
c.26202C>G (p.Ser8734=)
c.26187C>G (p.Ser8729=)
c.26175C>G (p.Ser8725=)
c.26172C>G (p.Ser8724=)
c.26169C>G (p.Ser8723=)
c.26269C>G (p.Pro8757Ala)
c.26227C>G (p.Pro8743Ala)
c.26158C>G (p.Pro8720Ala)
c.26325C>G (p.Ser8775=)
c.26313C>G (p.Ser8771=)
c.26163C>G (p.Ser8721=)
c.24603C>G (p.Ser8201=)
c.24096C>G (p.Ser8032=)
c.19563C>G (p.Ser6521=)
c.2728C>G (p.Pro910Ala)
c.26301C>G (p.Ser8767=)
c.26250C>G (p.Ser8750=)
c.26214C>G (p.Ser8738=)
c.26061C>G (p.Ser8687=)
c.26200C>G (p.Pro8734Ala)
c.26155C>G (p.Pro8719Ala)
c.26143C>G (p.Pro8715Ala)
6g.152122649G=CA1673189246ESR1,SYNE1c.2715C= (p.Ser905=)
c.26181C= (p.Ser8727=)
c.26037C= (p.Ser8679=)
c.1524C=
c.1899C=
c.1766C=
c.2031C= (n.2031C=)
c.24966C= (p.Ser8322=)
n.2929C=
c.4957C= (p.Pro1653=)
n.9873C=
c.4060C= (p.Pro1354=)
n.9765C=
c.851-2617G= (n.851-2617G=)
n.2795C=
n.6818C=
n.2959C=
c.2646C= (p.Ser882=)
c.26328C= (p.Ser8776=)
c.26316C= (p.Ser8772=)
c.26307C= (p.Ser8769=)
c.26286C= (p.Ser8762=)
c.26277C= (p.Ser8759=)
c.26271C= (p.Ser8757=)
c.26259C= (p.Ser8753=)
c.26256C= (p.Ser8752=)
c.26217C= (p.Ser8739=)
c.26202C= (p.Ser8734=)
c.26187C= (p.Ser8729=)
c.26175C= (p.Ser8725=)
c.26172C= (p.Ser8724=)
c.26169C= (p.Ser8723=)
c.26269C= (p.Pro8757=)
c.26227C= (p.Pro8743=)
c.26158C= (p.Pro8720=)
c.26325C= (p.Ser8775=)
c.26313C= (p.Ser8771=)
c.26163C= (p.Ser8721=)
c.24603C= (p.Ser8201=)
c.24096C= (p.Ser8032=)
c.19563C= (p.Ser6521=)
c.2728C= (p.Pro910=)
c.26301C= (p.Ser8767=)
c.26250C= (p.Ser8750=)
c.26214C= (p.Ser8738=)
c.26061C= (p.Ser8687=)
c.26200C= (p.Pro8734=)
c.26155C= (p.Pro8719=)
c.26143C= (p.Pro8715=)
6g.152122649G>TCA366089214ESR1,SYNE1c.2715C>A (p.Ser905=)
c.26181C>A (p.Ser8727=)
c.26037C>A (p.Ser8679=)
c.1524C>A
c.1899C>A
c.1766C>A
c.2031C>A (n.2031C>A)
c.24966C>A (p.Ser8322=)
n.2929C>A
c.4957C>A (p.Pro1653Thr)
n.9873C>A
c.4060C>A (p.Pro1354Thr)
n.9765C>A
c.851-2617G>T (n.851-2617G>T)
n.2795C>A
n.6818C>A
n.2959C>A
c.2646C>A (p.Ser882=)
c.26328C>A (p.Ser8776=)
c.26316C>A (p.Ser8772=)
c.26307C>A (p.Ser8769=)
c.26286C>A (p.Ser8762=)
c.26277C>A (p.Ser8759=)
c.26271C>A (p.Ser8757=)
c.26259C>A (p.Ser8753=)
c.26256C>A (p.Ser8752=)
c.26217C>A (p.Ser8739=)
c.26202C>A (p.Ser8734=)
c.26187C>A (p.Ser8729=)
c.26175C>A (p.Ser8725=)
c.26172C>A (p.Ser8724=)
c.26169C>A (p.Ser8723=)
c.26269C>A (p.Pro8757Thr)
c.26227C>A (p.Pro8743Thr)
c.26158C>A (p.Pro8720Thr)
c.26325C>A (p.Ser8775=)
c.26313C>A (p.Ser8771=)
c.26163C>A (p.Ser8721=)
c.24603C>A (p.Ser8201=)
c.24096C>A (p.Ser8032=)
c.19563C>A (p.Ser6521=)
c.2728C>A (p.Pro910Thr)
c.26301C>A (p.Ser8767=)
c.26250C>A (p.Ser8750=)
c.26214C>A (p.Ser8738=)
c.26061C>A (p.Ser8687=)
c.26200C>A (p.Pro8734Thr)
c.26155C>A (p.Pro8719Thr)
c.26143C>A (p.Pro8715Thr)
6g.152122650G>ACA366089215ESR1,SYNE1c.2714C>T (p.Ser905Phe)
c.26180C>T (p.Ser8727Phe)
c.26036C>T (p.Ser8679Phe)
c.1523C>T
c.1898C>T
c.1765C>T
c.2030C>T (n.2030C>T)
c.24965C>T (p.Ser8322Phe)
n.2928C>T
c.4956C>T (p.Leu1652=)
n.9872C>T
c.4059C>T (p.Leu1353=)
n.9764C>T
c.851-2616G>A (n.851-2616G>A)
n.2794C>T
n.6817C>T
n.2958C>T
c.2645C>T (p.Ser882Phe)
c.26327C>T (p.Ser8776Phe)
c.26315C>T (p.Ser8772Phe)
c.26306C>T (p.Ser8769Phe)
c.26285C>T (p.Ser8762Phe)
c.26276C>T (p.Ser8759Phe)
c.26270C>T (p.Ser8757Phe)
c.26258C>T (p.Ser8753Phe)
c.26255C>T (p.Ser8752Phe)
c.26216C>T (p.Ser8739Phe)
c.26201C>T (p.Ser8734Phe)
c.26186C>T (p.Ser8729Phe)
c.26174C>T (p.Ser8725Phe)
c.26171C>T (p.Ser8724Phe)
c.26168C>T (p.Ser8723Phe)
c.26268C>T (p.Leu8756=)
c.26226C>T (p.Leu8742=)
c.26157C>T (p.Leu8719=)
c.26324C>T (p.Ser8775Phe)
c.26312C>T (p.Ser8771Phe)
c.26162C>T (p.Ser8721Phe)
c.24602C>T (p.Ser8201Phe)
c.24095C>T (p.Ser8032Phe)
c.19562C>T (p.Ser6521Phe)
c.2727C>T (p.Leu909=)
c.26300C>T (p.Ser8767Phe)
c.26249C>T (p.Ser8750Phe)
c.26213C>T (p.Ser8738Phe)
c.26060C>T (p.Ser8687Phe)
c.26199C>T (p.Leu8733=)
c.26154C>T (p.Leu8718=)
c.26142C>T (p.Leu8714=)
 ClinVar dbSNP gnomAD v4
6g.152122650G>CCA366089216ESR1,SYNE1c.2714C>G (p.Ser905Cys)
c.26180C>G (p.Ser8727Cys)
c.26036C>G (p.Ser8679Cys)
c.1523C>G
c.1898C>G
c.1765C>G
c.2030C>G (n.2030C>G)
c.24965C>G (p.Ser8322Cys)
n.2928C>G
c.4956C>G (p.Leu1652=)
n.9872C>G
c.4059C>G (p.Leu1353=)
n.9764C>G
c.851-2616G>C (n.851-2616G>C)
n.2794C>G
n.6817C>G
n.2958C>G
c.2645C>G (p.Ser882Cys)
c.26327C>G (p.Ser8776Cys)
c.26315C>G (p.Ser8772Cys)
c.26306C>G (p.Ser8769Cys)
c.26285C>G (p.Ser8762Cys)
c.26276C>G (p.Ser8759Cys)
c.26270C>G (p.Ser8757Cys)
c.26258C>G (p.Ser8753Cys)
c.26255C>G (p.Ser8752Cys)
c.26216C>G (p.Ser8739Cys)
c.26201C>G (p.Ser8734Cys)
c.26186C>G (p.Ser8729Cys)
c.26174C>G (p.Ser8725Cys)
c.26171C>G (p.Ser8724Cys)
c.26168C>G (p.Ser8723Cys)
c.26268C>G (p.Leu8756=)
c.26226C>G (p.Leu8742=)
c.26157C>G (p.Leu8719=)
c.26324C>G (p.Ser8775Cys)
c.26312C>G (p.Ser8771Cys)
c.26162C>G (p.Ser8721Cys)
c.24602C>G (p.Ser8201Cys)
c.24095C>G (p.Ser8032Cys)
c.19562C>G (p.Ser6521Cys)
c.2727C>G (p.Leu909=)
c.26300C>G (p.Ser8767Cys)
c.26249C>G (p.Ser8750Cys)
c.26213C>G (p.Ser8738Cys)
c.26060C>G (p.Ser8687Cys)
c.26199C>G (p.Leu8733=)
c.26154C>G (p.Leu8718=)
c.26142C>G (p.Leu8714=)
6g.152122650G=CA1673189255ESR1,SYNE1c.2714C= (p.Ser905=)
c.26180C= (p.Ser8727=)
c.26036C= (p.Ser8679=)
c.1523C=
c.1898C=
c.1765C=
c.2030C= (n.2030C=)
c.24965C= (p.Ser8322=)
n.2928C=
c.4956C= (p.Leu1652=)
n.9872C=
c.4059C= (p.Leu1353=)
n.9764C=
c.851-2616G= (n.851-2616G=)
n.2794C=
n.6817C=
n.2958C=
c.2645C= (p.Ser882=)
c.26327C= (p.Ser8776=)
c.26315C= (p.Ser8772=)
c.26306C= (p.Ser8769=)
c.26285C= (p.Ser8762=)
c.26276C= (p.Ser8759=)
c.26270C= (p.Ser8757=)
c.26258C= (p.Ser8753=)
c.26255C= (p.Ser8752=)
c.26216C= (p.Ser8739=)
c.26201C= (p.Ser8734=)
c.26186C= (p.Ser8729=)
c.26174C= (p.Ser8725=)
c.26171C= (p.Ser8724=)
c.26168C= (p.Ser8723=)
c.26268C= (p.Leu8756=)
c.26226C= (p.Leu8742=)
c.26157C= (p.Leu8719=)
c.26324C= (p.Ser8775=)
c.26312C= (p.Ser8771=)
c.26162C= (p.Ser8721=)
c.24602C= (p.Ser8201=)
c.24095C= (p.Ser8032=)
c.19562C= (p.Ser6521=)
c.2727C= (p.Leu909=)
c.26300C= (p.Ser8767=)
c.26249C= (p.Ser8750=)
c.26213C= (p.Ser8738=)
c.26060C= (p.Ser8687=)
c.26199C= (p.Leu8733=)
c.26154C= (p.Leu8718=)
c.26142C= (p.Leu8714=)
6g.152122650G>TCA366089217ESR1,SYNE1c.2714C>A (p.Ser905Tyr)
c.26180C>A (p.Ser8727Tyr)
c.26036C>A (p.Ser8679Tyr)
c.1523C>A
c.1898C>A
c.1765C>A
c.2030C>A (n.2030C>A)
c.24965C>A (p.Ser8322Tyr)
n.2928C>A
c.4956C>A (p.Leu1652=)
n.9872C>A
c.4059C>A (p.Leu1353=)
n.9764C>A
c.851-2616G>T (n.851-2616G>T)
n.2794C>A
n.6817C>A
n.2958C>A
c.2645C>A (p.Ser882Tyr)
c.26327C>A (p.Ser8776Tyr)
c.26315C>A (p.Ser8772Tyr)
c.26306C>A (p.Ser8769Tyr)
c.26285C>A (p.Ser8762Tyr)
c.26276C>A (p.Ser8759Tyr)
c.26270C>A (p.Ser8757Tyr)
c.26258C>A (p.Ser8753Tyr)
c.26255C>A (p.Ser8752Tyr)
c.26216C>A (p.Ser8739Tyr)
c.26201C>A (p.Ser8734Tyr)
c.26186C>A (p.Ser8729Tyr)
c.26174C>A (p.Ser8725Tyr)
c.26171C>A (p.Ser8724Tyr)
c.26168C>A (p.Ser8723Tyr)
c.26268C>A (p.Leu8756=)
c.26226C>A (p.Leu8742=)
c.26157C>A (p.Leu8719=)
c.26324C>A (p.Ser8775Tyr)
c.26312C>A (p.Ser8771Tyr)
c.26162C>A (p.Ser8721Tyr)
c.24602C>A (p.Ser8201Tyr)
c.24095C>A (p.Ser8032Tyr)
c.19562C>A (p.Ser6521Tyr)
c.2727C>A (p.Leu909=)
c.26300C>A (p.Ser8767Tyr)
c.26249C>A (p.Ser8750Tyr)
c.26213C>A (p.Ser8738Tyr)
c.26060C>A (p.Ser8687Tyr)
c.26199C>A (p.Leu8733=)
c.26154C>A (p.Leu8718=)
c.26142C>A (p.Leu8714=)
6g.152122651A>CCA366089218ESR1,SYNE1c.2713T>G (p.Ser905Ala)
c.26179T>G (p.Ser8727Ala)
c.26035T>G (p.Ser8679Ala)
c.1522T>G
c.1897T>G
c.1764T>G
c.2029T>G (n.2029T>G)
c.24964T>G (p.Ser8322Ala)
n.2927T>G
c.4955T>G (p.Leu1652Arg)
n.9871T>G
c.4058T>G (p.Leu1353Arg)
n.9763T>G
c.851-2615A>C (n.851-2615A>C)
n.2793T>G
n.6816T>G
n.2957T>G
c.2644T>G (p.Ser882Ala)
c.26326T>G (p.Ser8776Ala)
c.26314T>G (p.Ser8772Ala)
c.26305T>G (p.Ser8769Ala)
c.26284T>G (p.Ser8762Ala)
c.26275T>G (p.Ser8759Ala)
c.26269T>G (p.Ser8757Ala)
c.26257T>G (p.Ser8753Ala)
c.26254T>G (p.Ser8752Ala)
c.26215T>G (p.Ser8739Ala)
c.26200T>G (p.Ser8734Ala)
c.26185T>G (p.Ser8729Ala)
c.26173T>G (p.Ser8725Ala)
c.26170T>G (p.Ser8724Ala)
c.26167T>G (p.Ser8723Ala)
c.26267T>G (p.Leu8756Arg)
c.26225T>G (p.Leu8742Arg)
c.26156T>G (p.Leu8719Arg)
c.26323T>G (p.Ser8775Ala)
c.26311T>G (p.Ser8771Ala)
c.26161T>G (p.Ser8721Ala)
c.24601T>G (p.Ser8201Ala)
c.24094T>G (p.Ser8032Ala)
c.19561T>G (p.Ser6521Ala)
c.2726T>G (p.Leu909Arg)
c.26299T>G (p.Ser8767Ala)
c.26248T>G (p.Ser8750Ala)
c.26212T>G (p.Ser8738Ala)
c.26059T>G (p.Ser8687Ala)
c.26198T>G (p.Leu8733Arg)
c.26153T>G (p.Leu8718Arg)
c.26141T>G (p.Leu8714Arg)
 gnomAD v4
6g.152122651A>GCA366089219ESR1,SYNE1c.2713T>C (p.Ser905Pro)
c.26179T>C (p.Ser8727Pro)
c.26035T>C (p.Ser8679Pro)
c.1522T>C
c.1897T>C
c.1764T>C
c.2029T>C (n.2029T>C)
c.24964T>C (p.Ser8322Pro)
n.2927T>C
c.4955T>C (p.Leu1652Pro)
n.9871T>C
c.4058T>C (p.Leu1353Pro)
n.9763T>C
c.851-2615A>G (n.851-2615A>G)
n.2793T>C
n.6816T>C
n.2957T>C
c.2644T>C (p.Ser882Pro)
c.26326T>C (p.Ser8776Pro)
c.26314T>C (p.Ser8772Pro)
c.26305T>C (p.Ser8769Pro)
c.26284T>C (p.Ser8762Pro)
c.26275T>C (p.Ser8759Pro)
c.26269T>C (p.Ser8757Pro)
c.26257T>C (p.Ser8753Pro)
c.26254T>C (p.Ser8752Pro)
c.26215T>C (p.Ser8739Pro)
c.26200T>C (p.Ser8734Pro)
c.26185T>C (p.Ser8729Pro)
c.26173T>C (p.Ser8725Pro)
c.26170T>C (p.Ser8724Pro)
c.26167T>C (p.Ser8723Pro)
c.26267T>C (p.Leu8756Pro)
c.26225T>C (p.Leu8742Pro)
c.26156T>C (p.Leu8719Pro)
c.26323T>C (p.Ser8775Pro)
c.26311T>C (p.Ser8771Pro)
c.26161T>C (p.Ser8721Pro)
c.24601T>C (p.Ser8201Pro)
c.24094T>C (p.Ser8032Pro)
c.19561T>C (p.Ser6521Pro)
c.2726T>C (p.Leu909Pro)
c.26299T>C (p.Ser8767Pro)
c.26248T>C (p.Ser8750Pro)
c.26212T>C (p.Ser8738Pro)
c.26059T>C (p.Ser8687Pro)
c.26198T>C (p.Leu8733Pro)
c.26153T>C (p.Leu8718Pro)
c.26141T>C (p.Leu8714Pro)
6g.152122651A>TCA366089220ESR1,SYNE1c.2713T>A (p.Ser905Thr)
c.26179T>A (p.Ser8727Thr)
c.26035T>A (p.Ser8679Thr)
c.1522T>A
c.1897T>A
c.1764T>A
c.2029T>A (n.2029T>A)
c.24964T>A (p.Ser8322Thr)
n.2927T>A
c.4955T>A (p.Leu1652His)
n.9871T>A
c.4058T>A (p.Leu1353His)
n.9763T>A
c.851-2615A>T (n.851-2615A>T)
n.2793T>A
n.6816T>A
n.2957T>A
c.2644T>A (p.Ser882Thr)
c.26326T>A (p.Ser8776Thr)
c.26314T>A (p.Ser8772Thr)
c.26305T>A (p.Ser8769Thr)
c.26284T>A (p.Ser8762Thr)
c.26275T>A (p.Ser8759Thr)
c.26269T>A (p.Ser8757Thr)
c.26257T>A (p.Ser8753Thr)
c.26254T>A (p.Ser8752Thr)
c.26215T>A (p.Ser8739Thr)
c.26200T>A (p.Ser8734Thr)
c.26185T>A (p.Ser8729Thr)
c.26173T>A (p.Ser8725Thr)
c.26170T>A (p.Ser8724Thr)
c.26167T>A (p.Ser8723Thr)
c.26267T>A (p.Leu8756His)
c.26225T>A (p.Leu8742His)
c.26156T>A (p.Leu8719His)
c.26323T>A (p.Ser8775Thr)
c.26311T>A (p.Ser8771Thr)
c.26161T>A (p.Ser8721Thr)
c.24601T>A (p.Ser8201Thr)
c.24094T>A (p.Ser8032Thr)
c.19561T>A (p.Ser6521Thr)
c.2726T>A (p.Leu909His)
c.26299T>A (p.Ser8767Thr)
c.26248T>A (p.Ser8750Thr)
c.26212T>A (p.Ser8738Thr)
c.26059T>A (p.Ser8687Thr)
c.26198T>A (p.Leu8733His)
c.26153T>A (p.Leu8718His)
c.26141T>A (p.Leu8714His)
6g.152122652G>ACA366089223ESR1,SYNE1c.2712C>T (p.Ser904=)
c.26178C>T (p.Ser8726=)
c.26034C>T (p.Ser8678=)
c.1521C>T
c.1896C>T
c.1763C>T
c.2028C>T (n.2028C>T)
c.24963C>T (p.Ser8321=)
n.2926C>T
c.4954C>T (p.Leu1652Phe)
n.9870C>T
c.4057C>T (p.Leu1353Phe)
n.9762C>T
c.851-2614G>A (n.851-2614G>A)
n.2792C>T
n.6815C>T
n.2956C>T
c.2643C>T (p.Ser881=)
c.26325C>T (p.Ser8775=)
c.26313C>T (p.Ser8771=)
c.26304C>T (p.Ser8768=)
c.26283C>T (p.Ser8761=)
c.26274C>T (p.Ser8758=)
c.26268C>T (p.Ser8756=)
c.26256C>T (p.Ser8752=)
c.26253C>T (p.Ser8751=)
c.26214C>T (p.Ser8738=)
c.26199C>T (p.Ser8733=)
c.26184C>T (p.Ser8728=)
c.26172C>T (p.Ser8724=)
c.26169C>T (p.Ser8723=)
c.26166C>T (p.Ser8722=)
c.26266C>T (p.Leu8756Phe)
c.26224C>T (p.Leu8742Phe)
c.26155C>T (p.Leu8719Phe)
c.26322C>T (p.Ser8774=)
c.26310C>T (p.Ser8770=)
c.26160C>T (p.Ser8720=)
c.24600C>T (p.Ser8200=)
c.24093C>T (p.Ser8031=)
c.19560C>T (p.Ser6520=)
c.2725C>T (p.Leu909Phe)
c.26298C>T (p.Ser8766=)
c.26247C>T (p.Ser8749=)
c.26211C>T (p.Ser8737=)
c.26058C>T (p.Ser8686=)
c.26197C>T (p.Leu8733Phe)
c.26152C>T (p.Leu8718Phe)
c.26140C>T (p.Leu8714Phe)
 gnomAD v4
6g.152122652G>CCA366089222ESR1,SYNE1c.2712C>G (p.Ser904=)
c.26178C>G (p.Ser8726=)
c.26034C>G (p.Ser8678=)
c.1521C>G
c.1896C>G
c.1763C>G
c.2028C>G (n.2028C>G)
c.24963C>G (p.Ser8321=)
n.2926C>G
c.4954C>G (p.Leu1652Val)
n.9870C>G
c.4057C>G (p.Leu1353Val)
n.9762C>G
c.851-2614G>C (n.851-2614G>C)
n.2792C>G
n.6815C>G
n.2956C>G
c.2643C>G (p.Ser881=)
c.26325C>G (p.Ser8775=)
c.26313C>G (p.Ser8771=)
c.26304C>G (p.Ser8768=)
c.26283C>G (p.Ser8761=)
c.26274C>G (p.Ser8758=)
c.26268C>G (p.Ser8756=)
c.26256C>G (p.Ser8752=)
c.26253C>G (p.Ser8751=)
c.26214C>G (p.Ser8738=)
c.26199C>G (p.Ser8733=)
c.26184C>G (p.Ser8728=)
c.26172C>G (p.Ser8724=)
c.26169C>G (p.Ser8723=)
c.26166C>G (p.Ser8722=)
c.26266C>G (p.Leu8756Val)
c.26224C>G (p.Leu8742Val)
c.26155C>G (p.Leu8719Val)
c.26322C>G (p.Ser8774=)
c.26310C>G (p.Ser8770=)
c.26160C>G (p.Ser8720=)
c.24600C>G (p.Ser8200=)
c.24093C>G (p.Ser8031=)
c.19560C>G (p.Ser6520=)
c.2725C>G (p.Leu909Val)
c.26298C>G (p.Ser8766=)
c.26247C>G (p.Ser8749=)
c.26211C>G (p.Ser8737=)
c.26058C>G (p.Ser8686=)
c.26197C>G (p.Leu8733Val)
c.26152C>G (p.Leu8718Val)
c.26140C>G (p.Leu8714Val)
6g.152122652G>TCA366089221ESR1,SYNE1c.2712C>A (p.Ser904=)
c.26178C>A (p.Ser8726=)
c.26034C>A (p.Ser8678=)
c.1521C>A
c.1896C>A
c.1763C>A
c.2028C>A (n.2028C>A)
c.24963C>A (p.Ser8321=)
n.2926C>A
c.4954C>A (p.Leu1652Ile)
n.9870C>A
c.4057C>A (p.Leu1353Ile)
n.9762C>A
c.851-2614G>T (n.851-2614G>T)
n.2792C>A
n.6815C>A
n.2956C>A
c.2643C>A (p.Ser881=)
c.26325C>A (p.Ser8775=)
c.26313C>A (p.Ser8771=)
c.26304C>A (p.Ser8768=)
c.26283C>A (p.Ser8761=)
c.26274C>A (p.Ser8758=)
c.26268C>A (p.Ser8756=)
c.26256C>A (p.Ser8752=)
c.26253C>A (p.Ser8751=)
c.26214C>A (p.Ser8738=)
c.26199C>A (p.Ser8733=)
c.26184C>A (p.Ser8728=)
c.26172C>A (p.Ser8724=)
c.26169C>A (p.Ser8723=)
c.26166C>A (p.Ser8722=)
c.26266C>A (p.Leu8756Ile)
c.26224C>A (p.Leu8742Ile)
c.26155C>A (p.Leu8719Ile)
c.26322C>A (p.Ser8774=)
c.26310C>A (p.Ser8770=)
c.26160C>A (p.Ser8720=)
c.24600C>A (p.Ser8200=)
c.24093C>A (p.Ser8031=)
c.19560C>A (p.Ser6520=)
c.2725C>A (p.Leu909Ile)
c.26298C>A (p.Ser8766=)
c.26247C>A (p.Ser8749=)
c.26211C>A (p.Ser8737=)
c.26058C>A (p.Ser8686=)
c.26197C>A (p.Leu8733Ile)
c.26152C>A (p.Leu8718Ile)
c.26140C>A (p.Leu8714Ile)
6g.152122653G>ACA4052612ESR1,SYNE1c.2711C>T (p.Ser904Phe)
c.26177C>T (p.Ser8726Phe)
c.26033C>T (p.Ser8678Phe)
c.1520C>T
c.1895C>T
c.1762C>T
c.2027C>T (n.2027C>T)
c.24962C>T (p.Ser8321Phe)
n.2925C>T
c.4953C>T (p.Phe1651=)
n.9869C>T
c.4056C>T (p.Phe1352=)
n.9761C>T
c.851-2613G>A (n.851-2613G>A)
n.2791C>T
n.6814C>T
n.2955C>T
c.2642C>T (p.Ser881Phe)
c.26324C>T (p.Ser8775Phe)
c.26312C>T (p.Ser8771Phe)
c.26303C>T (p.Ser8768Phe)
c.26282C>T (p.Ser8761Phe)
c.26273C>T (p.Ser8758Phe)
c.26267C>T (p.Ser8756Phe)
c.26255C>T (p.Ser8752Phe)
c.26252C>T (p.Ser8751Phe)
c.26213C>T (p.Ser8738Phe)
c.26198C>T (p.Ser8733Phe)
c.26183C>T (p.Ser8728Phe)
c.26171C>T (p.Ser8724Phe)
c.26168C>T (p.Ser8723Phe)
c.26165C>T (p.Ser8722Phe)
c.26265C>T (p.Phe8755=)
c.26223C>T (p.Phe8741=)
c.26154C>T (p.Phe8718=)
c.26321C>T (p.Ser8774Phe)
c.26309C>T (p.Ser8770Phe)
c.26159C>T (p.Ser8720Phe)
c.24599C>T (p.Ser8200Phe)
c.24092C>T (p.Ser8031Phe)
c.19559C>T (p.Ser6520Phe)
c.2724C>T (p.Phe908=)
c.26297C>T (p.Ser8766Phe)
c.26246C>T (p.Ser8749Phe)
c.26210C>T (p.Ser8737Phe)
c.26057C>T (p.Ser8686Phe)
c.26196C>T (p.Phe8732=)
c.26151C>T (p.Phe8717=)
c.26139C>T (p.Phe8713=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122653G>CCA366089224ESR1,SYNE1c.2711C>G (p.Ser904Cys)
c.26177C>G (p.Ser8726Cys)
c.26033C>G (p.Ser8678Cys)
c.1520C>G
c.1895C>G
c.1762C>G
c.2027C>G (n.2027C>G)
c.24962C>G (p.Ser8321Cys)
n.2925C>G
c.4953C>G (p.Phe1651Leu)
n.9869C>G
c.4056C>G (p.Phe1352Leu)
n.9761C>G
c.851-2613G>C (n.851-2613G>C)
n.2791C>G
n.6814C>G
n.2955C>G
c.2642C>G (p.Ser881Cys)
c.26324C>G (p.Ser8775Cys)
c.26312C>G (p.Ser8771Cys)
c.26303C>G (p.Ser8768Cys)
c.26282C>G (p.Ser8761Cys)
c.26273C>G (p.Ser8758Cys)
c.26267C>G (p.Ser8756Cys)
c.26255C>G (p.Ser8752Cys)
c.26252C>G (p.Ser8751Cys)
c.26213C>G (p.Ser8738Cys)
c.26198C>G (p.Ser8733Cys)
c.26183C>G (p.Ser8728Cys)
c.26171C>G (p.Ser8724Cys)
c.26168C>G (p.Ser8723Cys)
c.26165C>G (p.Ser8722Cys)
c.26265C>G (p.Phe8755Leu)
c.26223C>G (p.Phe8741Leu)
c.26154C>G (p.Phe8718Leu)
c.26321C>G (p.Ser8774Cys)
c.26309C>G (p.Ser8770Cys)
c.26159C>G (p.Ser8720Cys)
c.24599C>G (p.Ser8200Cys)
c.24092C>G (p.Ser8031Cys)
c.19559C>G (p.Ser6520Cys)
c.2724C>G (p.Phe908Leu)
c.26297C>G (p.Ser8766Cys)
c.26246C>G (p.Ser8749Cys)
c.26210C>G (p.Ser8737Cys)
c.26057C>G (p.Ser8686Cys)
c.26196C>G (p.Phe8732Leu)
c.26151C>G (p.Phe8717Leu)
c.26139C>G (p.Phe8713Leu)
 gnomAD v4
6g.152122653G=CA1673189260ESR1,SYNE1c.2711C= (p.Ser904=)
c.26177C= (p.Ser8726=)
c.26033C= (p.Ser8678=)
c.1520C=
c.1895C=
c.1762C=
c.2027C= (n.2027C=)
c.24962C= (p.Ser8321=)
n.2925C=
c.4953C= (p.Phe1651=)
n.9869C=
c.4056C= (p.Phe1352=)
n.9761C=
c.851-2613G= (n.851-2613G=)
n.2791C=
n.6814C=
n.2955C=
c.2642C= (p.Ser881=)
c.26324C= (p.Ser8775=)
c.26312C= (p.Ser8771=)
c.26303C= (p.Ser8768=)
c.26282C= (p.Ser8761=)
c.26273C= (p.Ser8758=)
c.26267C= (p.Ser8756=)
c.26255C= (p.Ser8752=)
c.26252C= (p.Ser8751=)
c.26213C= (p.Ser8738=)
c.26198C= (p.Ser8733=)
c.26183C= (p.Ser8728=)
c.26171C= (p.Ser8724=)
c.26168C= (p.Ser8723=)
c.26165C= (p.Ser8722=)
c.26265C= (p.Phe8755=)
c.26223C= (p.Phe8741=)
c.26154C= (p.Phe8718=)
c.26321C= (p.Ser8774=)
c.26309C= (p.Ser8770=)
c.26159C= (p.Ser8720=)
c.24599C= (p.Ser8200=)
c.24092C= (p.Ser8031=)
c.19559C= (p.Ser6520=)
c.2724C= (p.Phe908=)
c.26297C= (p.Ser8766=)
c.26246C= (p.Ser8749=)
c.26210C= (p.Ser8737=)
c.26057C= (p.Ser8686=)
c.26196C= (p.Phe8732=)
c.26151C= (p.Phe8717=)
c.26139C= (p.Phe8713=)
6g.152122653G>TCA366089225ESR1,SYNE1c.2711C>A (p.Ser904Tyr)
c.26177C>A (p.Ser8726Tyr)
c.26033C>A (p.Ser8678Tyr)
c.1520C>A
c.1895C>A
c.1762C>A
c.2027C>A (n.2027C>A)
c.24962C>A (p.Ser8321Tyr)
n.2925C>A
c.4953C>A (p.Phe1651Leu)
n.9869C>A
c.4056C>A (p.Phe1352Leu)
n.9761C>A
c.851-2613G>T (n.851-2613G>T)
n.2791C>A
n.6814C>A
n.2955C>A
c.2642C>A (p.Ser881Tyr)
c.26324C>A (p.Ser8775Tyr)
c.26312C>A (p.Ser8771Tyr)
c.26303C>A (p.Ser8768Tyr)
c.26282C>A (p.Ser8761Tyr)
c.26273C>A (p.Ser8758Tyr)
c.26267C>A (p.Ser8756Tyr)
c.26255C>A (p.Ser8752Tyr)
c.26252C>A (p.Ser8751Tyr)
c.26213C>A (p.Ser8738Tyr)
c.26198C>A (p.Ser8733Tyr)
c.26183C>A (p.Ser8728Tyr)
c.26171C>A (p.Ser8724Tyr)
c.26168C>A (p.Ser8723Tyr)
c.26165C>A (p.Ser8722Tyr)
c.26265C>A (p.Phe8755Leu)
c.26223C>A (p.Phe8741Leu)
c.26154C>A (p.Phe8718Leu)
c.26321C>A (p.Ser8774Tyr)
c.26309C>A (p.Ser8770Tyr)
c.26159C>A (p.Ser8720Tyr)
c.24599C>A (p.Ser8200Tyr)
c.24092C>A (p.Ser8031Tyr)
c.19559C>A (p.Ser6520Tyr)
c.2724C>A (p.Phe908Leu)
c.26297C>A (p.Ser8766Tyr)
c.26246C>A (p.Ser8749Tyr)
c.26210C>A (p.Ser8737Tyr)
c.26057C>A (p.Ser8686Tyr)
c.26196C>A (p.Phe8732Leu)
c.26151C>A (p.Phe8717Leu)
c.26139C>A (p.Phe8713Leu)
6g.152122654A>CCA366089226ESR1,SYNE1c.2710T>G (p.Ser904Ala)
c.26176T>G (p.Ser8726Ala)
c.26032T>G (p.Ser8678Ala)
c.1519T>G
c.1894T>G
c.1761T>G
c.2026T>G (n.2026T>G)
c.24961T>G (p.Ser8321Ala)
n.2924T>G
c.4952T>G (p.Phe1651Cys)
n.9868T>G
c.4055T>G (p.Phe1352Cys)
n.9760T>G
c.851-2612A>C (n.851-2612A>C)
n.2790T>G
n.6813T>G
n.2954T>G
c.2641T>G (p.Ser881Ala)
c.26323T>G (p.Ser8775Ala)
c.26311T>G (p.Ser8771Ala)
c.26302T>G (p.Ser8768Ala)
c.26281T>G (p.Ser8761Ala)
c.26272T>G (p.Ser8758Ala)
c.26266T>G (p.Ser8756Ala)
c.26254T>G (p.Ser8752Ala)
c.26251T>G (p.Ser8751Ala)
c.26212T>G (p.Ser8738Ala)
c.26197T>G (p.Ser8733Ala)
c.26182T>G (p.Ser8728Ala)
c.26170T>G (p.Ser8724Ala)
c.26167T>G (p.Ser8723Ala)
c.26164T>G (p.Ser8722Ala)
c.26264T>G (p.Phe8755Cys)
c.26222T>G (p.Phe8741Cys)
c.26153T>G (p.Phe8718Cys)
c.26320T>G (p.Ser8774Ala)
c.26308T>G (p.Ser8770Ala)
c.26158T>G (p.Ser8720Ala)
c.24598T>G (p.Ser8200Ala)
c.24091T>G (p.Ser8031Ala)
c.19558T>G (p.Ser6520Ala)
c.2723T>G (p.Phe908Cys)
c.26296T>G (p.Ser8766Ala)
c.26245T>G (p.Ser8749Ala)
c.26209T>G (p.Ser8737Ala)
c.26056T>G (p.Ser8686Ala)
c.26195T>G (p.Phe8732Cys)
c.26150T>G (p.Phe8717Cys)
c.26138T>G (p.Phe8713Cys)
6g.152122654A>GCA366089227ESR1,SYNE1c.2710T>C (p.Ser904Pro)
c.26176T>C (p.Ser8726Pro)
c.26032T>C (p.Ser8678Pro)
c.1519T>C
c.1894T>C
c.1761T>C
c.2026T>C (n.2026T>C)
c.24961T>C (p.Ser8321Pro)
n.2924T>C
c.4952T>C (p.Phe1651Ser)
n.9868T>C
c.4055T>C (p.Phe1352Ser)
n.9760T>C
c.851-2612A>G (n.851-2612A>G)
n.2790T>C
n.6813T>C
n.2954T>C
c.2641T>C (p.Ser881Pro)
c.26323T>C (p.Ser8775Pro)
c.26311T>C (p.Ser8771Pro)
c.26302T>C (p.Ser8768Pro)
c.26281T>C (p.Ser8761Pro)
c.26272T>C (p.Ser8758Pro)
c.26266T>C (p.Ser8756Pro)
c.26254T>C (p.Ser8752Pro)
c.26251T>C (p.Ser8751Pro)
c.26212T>C (p.Ser8738Pro)
c.26197T>C (p.Ser8733Pro)
c.26182T>C (p.Ser8728Pro)
c.26170T>C (p.Ser8724Pro)
c.26167T>C (p.Ser8723Pro)
c.26164T>C (p.Ser8722Pro)
c.26264T>C (p.Phe8755Ser)
c.26222T>C (p.Phe8741Ser)
c.26153T>C (p.Phe8718Ser)
c.26320T>C (p.Ser8774Pro)
c.26308T>C (p.Ser8770Pro)
c.26158T>C (p.Ser8720Pro)
c.24598T>C (p.Ser8200Pro)
c.24091T>C (p.Ser8031Pro)
c.19558T>C (p.Ser6520Pro)
c.2723T>C (p.Phe908Ser)
c.26296T>C (p.Ser8766Pro)
c.26245T>C (p.Ser8749Pro)
c.26209T>C (p.Ser8737Pro)
c.26056T>C (p.Ser8686Pro)
c.26195T>C (p.Phe8732Ser)
c.26150T>C (p.Phe8717Ser)
c.26138T>C (p.Phe8713Ser)
6g.152122654A>TCA366089228ESR1,SYNE1c.2710T>A (p.Ser904Thr)
c.26176T>A (p.Ser8726Thr)
c.26032T>A (p.Ser8678Thr)
c.1519T>A
c.1894T>A
c.1761T>A
c.2026T>A (n.2026T>A)
c.24961T>A (p.Ser8321Thr)
n.2924T>A
c.4952T>A (p.Phe1651Tyr)
n.9868T>A
c.4055T>A (p.Phe1352Tyr)
n.9760T>A
c.851-2612A>T (n.851-2612A>T)
n.2790T>A
n.6813T>A
n.2954T>A
c.2641T>A (p.Ser881Thr)
c.26323T>A (p.Ser8775Thr)
c.26311T>A (p.Ser8771Thr)
c.26302T>A (p.Ser8768Thr)
c.26281T>A (p.Ser8761Thr)
c.26272T>A (p.Ser8758Thr)
c.26266T>A (p.Ser8756Thr)
c.26254T>A (p.Ser8752Thr)
c.26251T>A (p.Ser8751Thr)
c.26212T>A (p.Ser8738Thr)
c.26197T>A (p.Ser8733Thr)
c.26182T>A (p.Ser8728Thr)
c.26170T>A (p.Ser8724Thr)
c.26167T>A (p.Ser8723Thr)
c.26164T>A (p.Ser8722Thr)
c.26264T>A (p.Phe8755Tyr)
c.26222T>A (p.Phe8741Tyr)
c.26153T>A (p.Phe8718Tyr)
c.26320T>A (p.Ser8774Thr)
c.26308T>A (p.Ser8770Thr)
c.26158T>A (p.Ser8720Thr)
c.24598T>A (p.Ser8200Thr)
c.24091T>A (p.Ser8031Thr)
c.19558T>A (p.Ser6520Thr)
c.2723T>A (p.Phe908Tyr)
c.26296T>A (p.Ser8766Thr)
c.26245T>A (p.Ser8749Thr)
c.26209T>A (p.Ser8737Thr)
c.26056T>A (p.Ser8686Thr)
c.26195T>A (p.Phe8732Tyr)
c.26150T>A (p.Phe8717Tyr)
c.26138T>A (p.Phe8713Tyr)
6g.152122655A=CA1673189264ESR1,SYNE1c.2709T= (p.Asp903=)
c.26175T= (p.Asp8725=)
c.26031T= (p.Asp8677=)
c.1518T=
c.1893T=
c.1760T=
c.2025T= (n.2025T=)
c.24960T= (p.Asp8320=)
n.2923T=
c.4951T= (p.Phe1651=)
n.9867T=
c.4054T= (p.Phe1352=)
n.9759T=
c.851-2611A= (n.851-2611A=)
n.2789T=
n.6812T=
n.2953T=
c.2640T= (p.Asp880=)
c.26322T= (p.Asp8774=)
c.26310T= (p.Asp8770=)
c.26301T= (p.Asp8767=)
c.26280T= (p.Asp8760=)
c.26271T= (p.Asp8757=)
c.26265T= (p.Asp8755=)
c.26253T= (p.Asp8751=)
c.26250T= (p.Asp8750=)
c.26211T= (p.Asp8737=)
c.26196T= (p.Asp8732=)
c.26181T= (p.Asp8727=)
c.26169T= (p.Asp8723=)
c.26166T= (p.Asp8722=)
c.26163T= (p.Asp8721=)
c.26263T= (p.Phe8755=)
c.26221T= (p.Phe8741=)
c.26152T= (p.Phe8718=)
c.26319T= (p.Asp8773=)
c.26307T= (p.Asp8769=)
c.26157T= (p.Asp8719=)
c.24597T= (p.Asp8199=)
c.24090T= (p.Asp8030=)
c.19557T= (p.Asp6519=)
c.2722T= (p.Phe908=)
c.26295T= (p.Asp8765=)
c.26244T= (p.Asp8748=)
c.26208T= (p.Asp8736=)
c.26055T= (p.Asp8685=)
c.26194T= (p.Phe8732=)
c.26149T= (p.Phe8717=)
c.26137T= (p.Phe8713=)
6g.152122655A>CCA366089229ESR1,SYNE1c.2709T>G (p.Asp903Glu)
c.26175T>G (p.Asp8725Glu)
c.26031T>G (p.Asp8677Glu)
c.1518T>G
c.1893T>G
c.1760T>G
c.2025T>G (n.2025T>G)
c.24960T>G (p.Asp8320Glu)
n.2923T>G
c.4951T>G (p.Phe1651Val)
n.9867T>G
c.4054T>G (p.Phe1352Val)
n.9759T>G
c.851-2611A>C (n.851-2611A>C)
n.2789T>G
n.6812T>G
n.2953T>G
c.2640T>G (p.Asp880Glu)
c.26322T>G (p.Asp8774Glu)
c.26310T>G (p.Asp8770Glu)
c.26301T>G (p.Asp8767Glu)
c.26280T>G (p.Asp8760Glu)
c.26271T>G (p.Asp8757Glu)
c.26265T>G (p.Asp8755Glu)
c.26253T>G (p.Asp8751Glu)
c.26250T>G (p.Asp8750Glu)
c.26211T>G (p.Asp8737Glu)
c.26196T>G (p.Asp8732Glu)
c.26181T>G (p.Asp8727Glu)
c.26169T>G (p.Asp8723Glu)
c.26166T>G (p.Asp8722Glu)
c.26163T>G (p.Asp8721Glu)
c.26263T>G (p.Phe8755Val)
c.26221T>G (p.Phe8741Val)
c.26152T>G (p.Phe8718Val)
c.26319T>G (p.Asp8773Glu)
c.26307T>G (p.Asp8769Glu)
c.26157T>G (p.Asp8719Glu)
c.24597T>G (p.Asp8199Glu)
c.24090T>G (p.Asp8030Glu)
c.19557T>G (p.Asp6519Glu)
c.2722T>G (p.Phe908Val)
c.26295T>G (p.Asp8765Glu)
c.26244T>G (p.Asp8748Glu)
c.26208T>G (p.Asp8736Glu)
c.26055T>G (p.Asp8685Glu)
c.26194T>G (p.Phe8732Val)
c.26149T>G (p.Phe8717Val)
c.26137T>G (p.Phe8713Val)
6g.152122655A>GCA366089230ESR1,SYNE1c.2709T>C (p.Asp903=)
c.26175T>C (p.Asp8725=)
c.26031T>C (p.Asp8677=)
c.1518T>C
c.1893T>C
c.1760T>C
c.2025T>C (n.2025T>C)
c.24960T>C (p.Asp8320=)
n.2923T>C
c.4951T>C (p.Phe1651Leu)
n.9867T>C
c.4054T>C (p.Phe1352Leu)
n.9759T>C
c.851-2611A>G (n.851-2611A>G)
n.2789T>C
n.6812T>C
n.2953T>C
c.2640T>C (p.Asp880=)
c.26322T>C (p.Asp8774=)
c.26310T>C (p.Asp8770=)
c.26301T>C (p.Asp8767=)
c.26280T>C (p.Asp8760=)
c.26271T>C (p.Asp8757=)
c.26265T>C (p.Asp8755=)
c.26253T>C (p.Asp8751=)
c.26250T>C (p.Asp8750=)
c.26211T>C (p.Asp8737=)
c.26196T>C (p.Asp8732=)
c.26181T>C (p.Asp8727=)
c.26169T>C (p.Asp8723=)
c.26166T>C (p.Asp8722=)
c.26163T>C (p.Asp8721=)
c.26263T>C (p.Phe8755Leu)
c.26221T>C (p.Phe8741Leu)
c.26152T>C (p.Phe8718Leu)
c.26319T>C (p.Asp8773=)
c.26307T>C (p.Asp8769=)
c.26157T>C (p.Asp8719=)
c.24597T>C (p.Asp8199=)
c.24090T>C (p.Asp8030=)
c.19557T>C (p.Asp6519=)
c.2722T>C (p.Phe908Leu)
c.26295T>C (p.Asp8765=)
c.26244T>C (p.Asp8748=)
c.26208T>C (p.Asp8736=)
c.26055T>C (p.Asp8685=)
c.26194T>C (p.Phe8732Leu)
c.26149T>C (p.Phe8717Leu)
c.26137T>C (p.Phe8713Leu)
6g.152122655A>TCA4052613ESR1,SYNE1c.2709T>A (p.Asp903Glu)
c.26175T>A (p.Asp8725Glu)
c.26031T>A (p.Asp8677Glu)
c.1518T>A
c.1893T>A
c.1760T>A
c.2025T>A (n.2025T>A)
c.24960T>A (p.Asp8320Glu)
n.2923T>A
c.4951T>A (p.Phe1651Ile)
n.9867T>A
c.4054T>A (p.Phe1352Ile)
n.9759T>A
c.851-2611A>T (n.851-2611A>T)
n.2789T>A
n.6812T>A
n.2953T>A
c.2640T>A (p.Asp880Glu)
c.26322T>A (p.Asp8774Glu)
c.26310T>A (p.Asp8770Glu)
c.26301T>A (p.Asp8767Glu)
c.26280T>A (p.Asp8760Glu)
c.26271T>A (p.Asp8757Glu)
c.26265T>A (p.Asp8755Glu)
c.26253T>A (p.Asp8751Glu)
c.26250T>A (p.Asp8750Glu)
c.26211T>A (p.Asp8737Glu)
c.26196T>A (p.Asp8732Glu)
c.26181T>A (p.Asp8727Glu)
c.26169T>A (p.Asp8723Glu)
c.26166T>A (p.Asp8722Glu)
c.26163T>A (p.Asp8721Glu)
c.26263T>A (p.Phe8755Ile)
c.26221T>A (p.Phe8741Ile)
c.26152T>A (p.Phe8718Ile)
c.26319T>A (p.Asp8773Glu)
c.26307T>A (p.Asp8769Glu)
c.26157T>A (p.Asp8719Glu)
c.24597T>A (p.Asp8199Glu)
c.24090T>A (p.Asp8030Glu)
c.19557T>A (p.Asp6519Glu)
c.2722T>A (p.Phe908Ile)
c.26295T>A (p.Asp8765Glu)
c.26244T>A (p.Asp8748Glu)
c.26208T>A (p.Asp8736Glu)
c.26055T>A (p.Asp8685Glu)
c.26194T>A (p.Phe8732Ile)
c.26149T>A (p.Phe8717Ile)
c.26137T>A (p.Phe8713Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122656T>ACA366089231ESR1,SYNE1c.2708A>T (p.Asp903Val)
c.26174A>T (p.Asp8725Val)
c.26030A>T (p.Asp8677Val)
c.1517A>T
c.1892A>T
c.1759A>T
c.2024A>T (n.2024A>T)
c.24959A>T (p.Asp8320Val)
n.2922A>T
c.4950A>T (p.Arg1650=)
n.9866A>T
c.4053A>T (p.Arg1351=)
n.9758A>T
c.851-2610T>A (n.851-2610T>A)
n.2788A>T
n.6811A>T
n.2952A>T
c.2639A>T (p.Asp880Val)
c.26321A>T (p.Asp8774Val)
c.26309A>T (p.Asp8770Val)
c.26300A>T (p.Asp8767Val)
c.26279A>T (p.Asp8760Val)
c.26270A>T (p.Asp8757Val)
c.26264A>T (p.Asp8755Val)
c.26252A>T (p.Asp8751Val)
c.26249A>T (p.Asp8750Val)
c.26210A>T (p.Asp8737Val)
c.26195A>T (p.Asp8732Val)
c.26180A>T (p.Asp8727Val)
c.26168A>T (p.Asp8723Val)
c.26165A>T (p.Asp8722Val)
c.26162A>T (p.Asp8721Val)
c.26262A>T (p.Arg8754=)
c.26220A>T (p.Arg8740=)
c.26151A>T (p.Arg8717=)
c.26318A>T (p.Asp8773Val)
c.26306A>T (p.Asp8769Val)
c.26156A>T (p.Asp8719Val)
c.24596A>T (p.Asp8199Val)
c.24089A>T (p.Asp8030Val)
c.19556A>T (p.Asp6519Val)
c.2721A>T (p.Arg907=)
c.26294A>T (p.Asp8765Val)
c.26243A>T (p.Asp8748Val)
c.26207A>T (p.Asp8736Val)
c.26054A>T (p.Asp8685Val)
c.26193A>T (p.Arg8731=)
c.26148A>T (p.Arg8716=)
c.26136A>T (p.Arg8712=)
 dbSNP
6g.152122656T>CCA366089232ESR1,SYNE1c.2708A>G (p.Asp903Gly)
c.26174A>G (p.Asp8725Gly)
c.26030A>G (p.Asp8677Gly)
c.1517A>G
c.1892A>G
c.1759A>G
c.2024A>G (n.2024A>G)
c.24959A>G (p.Asp8320Gly)
n.2922A>G
c.4950A>G (p.Arg1650=)
n.9866A>G
c.4053A>G (p.Arg1351=)
n.9758A>G
c.851-2610T>C (n.851-2610T>C)
n.2788A>G
n.6811A>G
n.2952A>G
c.2639A>G (p.Asp880Gly)
c.26321A>G (p.Asp8774Gly)
c.26309A>G (p.Asp8770Gly)
c.26300A>G (p.Asp8767Gly)
c.26279A>G (p.Asp8760Gly)
c.26270A>G (p.Asp8757Gly)
c.26264A>G (p.Asp8755Gly)
c.26252A>G (p.Asp8751Gly)
c.26249A>G (p.Asp8750Gly)
c.26210A>G (p.Asp8737Gly)
c.26195A>G (p.Asp8732Gly)
c.26180A>G (p.Asp8727Gly)
c.26168A>G (p.Asp8723Gly)
c.26165A>G (p.Asp8722Gly)
c.26162A>G (p.Asp8721Gly)
c.26262A>G (p.Arg8754=)
c.26220A>G (p.Arg8740=)
c.26151A>G (p.Arg8717=)
c.26318A>G (p.Asp8773Gly)
c.26306A>G (p.Asp8769Gly)
c.26156A>G (p.Asp8719Gly)
c.24596A>G (p.Asp8199Gly)
c.24089A>G (p.Asp8030Gly)
c.19556A>G (p.Asp6519Gly)
c.2721A>G (p.Arg907=)
c.26294A>G (p.Asp8765Gly)
c.26243A>G (p.Asp8748Gly)
c.26207A>G (p.Asp8736Gly)
c.26054A>G (p.Asp8685Gly)
c.26193A>G (p.Arg8731=)
c.26148A>G (p.Arg8716=)
c.26136A>G (p.Arg8712=)
6g.152122656T>GCA366089233ESR1,SYNE1c.2708A>C (p.Asp903Ala)
c.26174A>C (p.Asp8725Ala)
c.26030A>C (p.Asp8677Ala)
c.1517A>C
c.1892A>C
c.1759A>C
c.2024A>C (n.2024A>C)
c.24959A>C (p.Asp8320Ala)
n.2922A>C
c.4950A>C (p.Arg1650=)
n.9866A>C
c.4053A>C (p.Arg1351=)
n.9758A>C
c.851-2610T>G (n.851-2610T>G)
n.2788A>C
n.6811A>C
n.2952A>C
c.2639A>C (p.Asp880Ala)
c.26321A>C (p.Asp8774Ala)
c.26309A>C (p.Asp8770Ala)
c.26300A>C (p.Asp8767Ala)
c.26279A>C (p.Asp8760Ala)
c.26270A>C (p.Asp8757Ala)
c.26264A>C (p.Asp8755Ala)
c.26252A>C (p.Asp8751Ala)
c.26249A>C (p.Asp8750Ala)
c.26210A>C (p.Asp8737Ala)
c.26195A>C (p.Asp8732Ala)
c.26180A>C (p.Asp8727Ala)
c.26168A>C (p.Asp8723Ala)
c.26165A>C (p.Asp8722Ala)
c.26162A>C (p.Asp8721Ala)
c.26262A>C (p.Arg8754=)
c.26220A>C (p.Arg8740=)
c.26151A>C (p.Arg8717=)
c.26318A>C (p.Asp8773Ala)
c.26306A>C (p.Asp8769Ala)
c.26156A>C (p.Asp8719Ala)
c.24596A>C (p.Asp8199Ala)
c.24089A>C (p.Asp8030Ala)
c.19556A>C (p.Asp6519Ala)
c.2721A>C (p.Arg907=)
c.26294A>C (p.Asp8765Ala)
c.26243A>C (p.Asp8748Ala)
c.26207A>C (p.Asp8736Ala)
c.26054A>C (p.Asp8685Ala)
c.26193A>C (p.Arg8731=)
c.26148A>C (p.Arg8716=)
c.26136A>C (p.Arg8712=)
6g.152122656T=CA1673189267ESR1,SYNE1c.2708A= (p.Asp903=)
c.26174A= (p.Asp8725=)
c.26030A= (p.Asp8677=)
c.1517A=
c.1892A=
c.1759A=
c.2024A= (n.2024A=)
c.24959A= (p.Asp8320=)
n.2922A=
c.4950A= (p.Arg1650=)
n.9866A=
c.4053A= (p.Arg1351=)
n.9758A=
c.851-2610T= (n.851-2610T=)
n.2788A=
n.6811A=
n.2952A=
c.2639A= (p.Asp880=)
c.26321A= (p.Asp8774=)
c.26309A= (p.Asp8770=)
c.26300A= (p.Asp8767=)
c.26279A= (p.Asp8760=)
c.26270A= (p.Asp8757=)
c.26264A= (p.Asp8755=)
c.26252A= (p.Asp8751=)
c.26249A= (p.Asp8750=)
c.26210A= (p.Asp8737=)
c.26195A= (p.Asp8732=)
c.26180A= (p.Asp8727=)
c.26168A= (p.Asp8723=)
c.26165A= (p.Asp8722=)
c.26162A= (p.Asp8721=)
c.26262A= (p.Arg8754=)
c.26220A= (p.Arg8740=)
c.26151A= (p.Arg8717=)
c.26318A= (p.Asp8773=)
c.26306A= (p.Asp8769=)
c.26156A= (p.Asp8719=)
c.24596A= (p.Asp8199=)
c.24089A= (p.Asp8030=)
c.19556A= (p.Asp6519=)
c.2721A= (p.Arg907=)
c.26294A= (p.Asp8765=)
c.26243A= (p.Asp8748=)
c.26207A= (p.Asp8736=)
c.26054A= (p.Asp8685=)
c.26193A= (p.Arg8731=)
c.26148A= (p.Arg8716=)
c.26136A= (p.Arg8712=)
6g.152122657C>ACA366089234ESR1,SYNE1c.2707G>T (p.Asp903Tyr)
c.26173G>T (p.Asp8725Tyr)
c.26029G>T (p.Asp8677Tyr)
c.1516G>T
c.1891G>T
c.1758G>T
c.2023G>T (n.2023G>T)
c.24958G>T (p.Asp8320Tyr)
n.2921G>T
c.4949G>T (p.Arg1650Leu)
n.9865G>T
c.4052G>T (p.Arg1351Leu)
n.9757G>T
c.851-2609C>A (n.851-2609C>A)
n.2787G>T
n.6810G>T
n.2951G>T
c.2638G>T (p.Asp880Tyr)
c.26320G>T (p.Asp8774Tyr)
c.26308G>T (p.Asp8770Tyr)
c.26299G>T (p.Asp8767Tyr)
c.26278G>T (p.Asp8760Tyr)
c.26269G>T (p.Asp8757Tyr)
c.26263G>T (p.Asp8755Tyr)
c.26251G>T (p.Asp8751Tyr)
c.26248G>T (p.Asp8750Tyr)
c.26209G>T (p.Asp8737Tyr)
c.26194G>T (p.Asp8732Tyr)
c.26179G>T (p.Asp8727Tyr)
c.26167G>T (p.Asp8723Tyr)
c.26164G>T (p.Asp8722Tyr)
c.26161G>T (p.Asp8721Tyr)
c.26261G>T (p.Arg8754Leu)
c.26219G>T (p.Arg8740Leu)
c.26150G>T (p.Arg8717Leu)
c.26317G>T (p.Asp8773Tyr)
c.26305G>T (p.Asp8769Tyr)
c.26155G>T (p.Asp8719Tyr)
c.24595G>T (p.Asp8199Tyr)
c.24088G>T (p.Asp8030Tyr)
c.19555G>T (p.Asp6519Tyr)
c.2720G>T (p.Arg907Leu)
c.26293G>T (p.Asp8765Tyr)
c.26242G>T (p.Asp8748Tyr)
c.26206G>T (p.Asp8736Tyr)
c.26053G>T (p.Asp8685Tyr)
c.26192G>T (p.Arg8731Leu)
c.26147G>T (p.Arg8716Leu)
c.26135G>T (p.Arg8712Leu)
6g.152122657C=CA1673189276ESR1,SYNE1c.2707G= (p.Asp903=)
c.26173G= (p.Asp8725=)
c.26029G= (p.Asp8677=)
c.1516G=
c.1891G=
c.1758G=
c.2023G= (n.2023G=)
c.24958G= (p.Asp8320=)
n.2921G=
c.4949G= (p.Arg1650=)
n.9865G=
c.4052G= (p.Arg1351=)
n.9757G=
c.851-2609C= (n.851-2609C=)
n.2787G=
n.6810G=
n.2951G=
c.2638G= (p.Asp880=)
c.26320G= (p.Asp8774=)
c.26308G= (p.Asp8770=)
c.26299G= (p.Asp8767=)
c.26278G= (p.Asp8760=)
c.26269G= (p.Asp8757=)
c.26263G= (p.Asp8755=)
c.26251G= (p.Asp8751=)
c.26248G= (p.Asp8750=)
c.26209G= (p.Asp8737=)
c.26194G= (p.Asp8732=)
c.26179G= (p.Asp8727=)
c.26167G= (p.Asp8723=)
c.26164G= (p.Asp8722=)
c.26161G= (p.Asp8721=)
c.26261G= (p.Arg8754=)
c.26219G= (p.Arg8740=)
c.26150G= (p.Arg8717=)
c.26317G= (p.Asp8773=)
c.26305G= (p.Asp8769=)
c.26155G= (p.Asp8719=)
c.24595G= (p.Asp8199=)
c.24088G= (p.Asp8030=)
c.19555G= (p.Asp6519=)
c.2720G= (p.Arg907=)
c.26293G= (p.Asp8765=)
c.26242G= (p.Asp8748=)
c.26206G= (p.Asp8736=)
c.26053G= (p.Asp8685=)
c.26192G= (p.Arg8731=)
c.26147G= (p.Arg8716=)
c.26135G= (p.Arg8712=)
6g.152122657C>GCA366089235ESR1,SYNE1c.2707G>C (p.Asp903His)
c.26173G>C (p.Asp8725His)
c.26029G>C (p.Asp8677His)
c.1516G>C
c.1891G>C
c.1758G>C
c.2023G>C (n.2023G>C)
c.24958G>C (p.Asp8320His)
n.2921G>C
c.4949G>C (p.Arg1650Pro)
n.9865G>C
c.4052G>C (p.Arg1351Pro)
n.9757G>C
c.851-2609C>G (n.851-2609C>G)
n.2787G>C
n.6810G>C
n.2951G>C
c.2638G>C (p.Asp880His)
c.26320G>C (p.Asp8774His)
c.26308G>C (p.Asp8770His)
c.26299G>C (p.Asp8767His)
c.26278G>C (p.Asp8760His)
c.26269G>C (p.Asp8757His)
c.26263G>C (p.Asp8755His)
c.26251G>C (p.Asp8751His)
c.26248G>C (p.Asp8750His)
c.26209G>C (p.Asp8737His)
c.26194G>C (p.Asp8732His)
c.26179G>C (p.Asp8727His)
c.26167G>C (p.Asp8723His)
c.26164G>C (p.Asp8722His)
c.26161G>C (p.Asp8721His)
c.26261G>C (p.Arg8754Pro)
c.26219G>C (p.Arg8740Pro)
c.26150G>C (p.Arg8717Pro)
c.26317G>C (p.Asp8773His)
c.26305G>C (p.Asp8769His)
c.26155G>C (p.Asp8719His)
c.24595G>C (p.Asp8199His)
c.24088G>C (p.Asp8030His)
c.19555G>C (p.Asp6519His)
c.2720G>C (p.Arg907Pro)
c.26293G>C (p.Asp8765His)
c.26242G>C (p.Asp8748His)
c.26206G>C (p.Asp8736His)
c.26053G>C (p.Asp8685His)
c.26192G>C (p.Arg8731Pro)
c.26147G>C (p.Arg8716Pro)
c.26135G>C (p.Arg8712Pro)
6g.152122657C>TCA4052614ESR1,SYNE1c.2707G>A (p.Asp903Asn)
c.26173G>A (p.Asp8725Asn)
c.26029G>A (p.Asp8677Asn)
c.1516G>A
c.1891G>A
c.1758G>A
c.2023G>A (n.2023G>A)
c.24958G>A (p.Asp8320Asn)
n.2921G>A
c.4949G>A (p.Arg1650Gln)
n.9865G>A
c.4052G>A (p.Arg1351Gln)
n.9757G>A
c.851-2609C>T (n.851-2609C>T)
n.2787G>A
n.6810G>A
n.2951G>A
c.2638G>A (p.Asp880Asn)
c.26320G>A (p.Asp8774Asn)
c.26308G>A (p.Asp8770Asn)
c.26299G>A (p.Asp8767Asn)
c.26278G>A (p.Asp8760Asn)
c.26269G>A (p.Asp8757Asn)
c.26263G>A (p.Asp8755Asn)
c.26251G>A (p.Asp8751Asn)
c.26248G>A (p.Asp8750Asn)
c.26209G>A (p.Asp8737Asn)
c.26194G>A (p.Asp8732Asn)
c.26179G>A (p.Asp8727Asn)
c.26167G>A (p.Asp8723Asn)
c.26164G>A (p.Asp8722Asn)
c.26161G>A (p.Asp8721Asn)
c.26261G>A (p.Arg8754Gln)
c.26219G>A (p.Arg8740Gln)
c.26150G>A (p.Arg8717Gln)
c.26317G>A (p.Asp8773Asn)
c.26305G>A (p.Asp8769Asn)
c.26155G>A (p.Asp8719Asn)
c.24595G>A (p.Asp8199Asn)
c.24088G>A (p.Asp8030Asn)
c.19555G>A (p.Asp6519Asn)
c.2720G>A (p.Arg907Gln)
c.26293G>A (p.Asp8765Asn)
c.26242G>A (p.Asp8748Asn)
c.26206G>A (p.Asp8736Asn)
c.26053G>A (p.Asp8685Asn)
c.26192G>A (p.Arg8731Gln)
c.26147G>A (p.Arg8716Gln)
c.26135G>A (p.Arg8712Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122658G>ACA4052615ESR1,SYNE1c.2706C>T (p.Ser902=)
c.26172C>T (p.Ser8724=)
c.26028C>T (p.Ser8676=)
c.1515C>T
c.1890C>T
c.1757C>T
c.2022C>T (n.2022C>T)
c.24957C>T (p.Ser8319=)
n.2920C>T
c.4948C>T (p.Arg1650Ter)
n.9864C>T
c.4051C>T (p.Arg1351Ter)
n.9756C>T
c.851-2608G>A (n.851-2608G>A)
n.2786C>T
n.6809C>T
n.2950C>T
c.2637C>T (p.Ser879=)
c.26319C>T (p.Ser8773=)
c.26307C>T (p.Ser8769=)
c.26298C>T (p.Ser8766=)
c.26277C>T (p.Ser8759=)
c.26268C>T (p.Ser8756=)
c.26262C>T (p.Ser8754=)
c.26250C>T (p.Ser8750=)
c.26247C>T (p.Ser8749=)
c.26208C>T (p.Ser8736=)
c.26193C>T (p.Ser8731=)
c.26178C>T (p.Ser8726=)
c.26166C>T (p.Ser8722=)
c.26163C>T (p.Ser8721=)
c.26160C>T (p.Ser8720=)
c.26260C>T (p.Arg8754Ter)
c.26218C>T (p.Arg8740Ter)
c.26149C>T (p.Arg8717Ter)
c.26316C>T (p.Ser8772=)
c.26304C>T (p.Ser8768=)
c.26154C>T (p.Ser8718=)
c.24594C>T (p.Ser8198=)
c.24087C>T (p.Ser8029=)
c.19554C>T (p.Ser6518=)
c.2719C>T (p.Arg907Ter)
c.26292C>T (p.Ser8764=)
c.26241C>T (p.Ser8747=)
c.26205C>T (p.Ser8735=)
c.26052C>T (p.Ser8684=)
c.26191C>T (p.Arg8731Ter)
c.26146C>T (p.Arg8716Ter)
c.26134C>T (p.Arg8712Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122658G>CCA366089236ESR1,SYNE1c.2706C>G (p.Ser902=)
c.26172C>G (p.Ser8724=)
c.26028C>G (p.Ser8676=)
c.1515C>G
c.1890C>G
c.1757C>G
c.2022C>G (n.2022C>G)
c.24957C>G (p.Ser8319=)
n.2920C>G
c.4948C>G (p.Arg1650Gly)
n.9864C>G
c.4051C>G (p.Arg1351Gly)
n.9756C>G
c.851-2608G>C (n.851-2608G>C)
n.2786C>G
n.6809C>G
n.2950C>G
c.2637C>G (p.Ser879=)
c.26319C>G (p.Ser8773=)
c.26307C>G (p.Ser8769=)
c.26298C>G (p.Ser8766=)
c.26277C>G (p.Ser8759=)
c.26268C>G (p.Ser8756=)
c.26262C>G (p.Ser8754=)
c.26250C>G (p.Ser8750=)
c.26247C>G (p.Ser8749=)
c.26208C>G (p.Ser8736=)
c.26193C>G (p.Ser8731=)
c.26178C>G (p.Ser8726=)
c.26166C>G (p.Ser8722=)
c.26163C>G (p.Ser8721=)
c.26160C>G (p.Ser8720=)
c.26260C>G (p.Arg8754Gly)
c.26218C>G (p.Arg8740Gly)
c.26149C>G (p.Arg8717Gly)
c.26316C>G (p.Ser8772=)
c.26304C>G (p.Ser8768=)
c.26154C>G (p.Ser8718=)
c.24594C>G (p.Ser8198=)
c.24087C>G (p.Ser8029=)
c.19554C>G (p.Ser6518=)
c.2719C>G (p.Arg907Gly)
c.26292C>G (p.Ser8764=)
c.26241C>G (p.Ser8747=)
c.26205C>G (p.Ser8735=)
c.26052C>G (p.Ser8684=)
c.26191C>G (p.Arg8731Gly)
c.26146C>G (p.Arg8716Gly)
c.26134C>G (p.Arg8712Gly)
 gnomAD v4
6g.152122658G=CA1673189282ESR1,SYNE1c.2706C= (p.Ser902=)
c.26172C= (p.Ser8724=)
c.26028C= (p.Ser8676=)
c.1515C=
c.1890C=
c.1757C=
c.2022C= (n.2022C=)
c.24957C= (p.Ser8319=)
n.2920C=
c.4948C= (p.Arg1650=)
n.9864C=
c.4051C= (p.Arg1351=)
n.9756C=
c.851-2608G= (n.851-2608G=)
n.2786C=
n.6809C=
n.2950C=
c.2637C= (p.Ser879=)
c.26319C= (p.Ser8773=)
c.26307C= (p.Ser8769=)
c.26298C= (p.Ser8766=)
c.26277C= (p.Ser8759=)
c.26268C= (p.Ser8756=)
c.26262C= (p.Ser8754=)
c.26250C= (p.Ser8750=)
c.26247C= (p.Ser8749=)
c.26208C= (p.Ser8736=)
c.26193C= (p.Ser8731=)
c.26178C= (p.Ser8726=)
c.26166C= (p.Ser8722=)
c.26163C= (p.Ser8721=)
c.26160C= (p.Ser8720=)
c.26260C= (p.Arg8754=)
c.26218C= (p.Arg8740=)
c.26149C= (p.Arg8717=)
c.26316C= (p.Ser8772=)
c.26304C= (p.Ser8768=)
c.26154C= (p.Ser8718=)
c.24594C= (p.Ser8198=)
c.24087C= (p.Ser8029=)
c.19554C= (p.Ser6518=)
c.2719C= (p.Arg907=)
c.26292C= (p.Ser8764=)
c.26241C= (p.Ser8747=)
c.26205C= (p.Ser8735=)
c.26052C= (p.Ser8684=)
c.26191C= (p.Arg8731=)
c.26146C= (p.Arg8716=)
c.26134C= (p.Arg8712=)
6g.152122658G>TCA452969717ESR1,SYNE1c.2706C>A (p.Ser902=)
c.26172C>A (p.Ser8724=)
c.26028C>A (p.Ser8676=)
c.1515C>A
c.1890C>A
c.1757C>A
c.2022C>A (n.2022C>A)
c.24957C>A (p.Ser8319=)
n.2920C>A
c.4948C>A (p.Arg1650=)
n.9864C>A
c.4051C>A (p.Arg1351=)
n.9756C>A
c.851-2608G>T (n.851-2608G>T)
n.2786C>A
n.6809C>A
n.2950C>A
c.2637C>A (p.Ser879=)
c.26319C>A (p.Ser8773=)
c.26307C>A (p.Ser8769=)
c.26298C>A (p.Ser8766=)
c.26277C>A (p.Ser8759=)
c.26268C>A (p.Ser8756=)
c.26262C>A (p.Ser8754=)
c.26250C>A (p.Ser8750=)
c.26247C>A (p.Ser8749=)
c.26208C>A (p.Ser8736=)
c.26193C>A (p.Ser8731=)
c.26178C>A (p.Ser8726=)
c.26166C>A (p.Ser8722=)
c.26163C>A (p.Ser8721=)
c.26160C>A (p.Ser8720=)
c.26260C>A (p.Arg8754=)
c.26218C>A (p.Arg8740=)
c.26149C>A (p.Arg8717=)
c.26316C>A (p.Ser8772=)
c.26304C>A (p.Ser8768=)
c.26154C>A (p.Ser8718=)
c.24594C>A (p.Ser8198=)
c.24087C>A (p.Ser8029=)
c.19554C>A (p.Ser6518=)
c.2719C>A (p.Arg907=)
c.26292C>A (p.Ser8764=)
c.26241C>A (p.Ser8747=)
c.26205C>A (p.Ser8735=)
c.26052C>A (p.Ser8684=)
c.26191C>A (p.Arg8731=)
c.26146C>A (p.Arg8716=)
c.26134C>A (p.Arg8712=)
 gnomAD v4
6g.152122659G>ACA366089237ESR1,SYNE1c.2705C>T (p.Ser902Phe)
c.26171C>T (p.Ser8724Phe)
c.26027C>T (p.Ser8676Phe)
c.1514C>T
c.1889C>T
c.1756C>T
c.2021C>T (n.2021C>T)
c.24956C>T (p.Ser8319Phe)
n.2919C>T
c.4947C>T (p.Leu1649=)
n.9863C>T
c.4050C>T (p.Leu1350=)
n.9755C>T
c.851-2607G>A (n.851-2607G>A)
n.2785C>T
n.6808C>T
n.2949C>T
c.2636C>T (p.Ser879Phe)
c.26318C>T (p.Ser8773Phe)
c.26306C>T (p.Ser8769Phe)
c.26297C>T (p.Ser8766Phe)
c.26276C>T (p.Ser8759Phe)
c.26267C>T (p.Ser8756Phe)
c.26261C>T (p.Ser8754Phe)
c.26249C>T (p.Ser8750Phe)
c.26246C>T (p.Ser8749Phe)
c.26207C>T (p.Ser8736Phe)
c.26192C>T (p.Ser8731Phe)
c.26177C>T (p.Ser8726Phe)
c.26165C>T (p.Ser8722Phe)
c.26162C>T (p.Ser8721Phe)
c.26159C>T (p.Ser8720Phe)
c.26259C>T (p.Leu8753=)
c.26217C>T (p.Leu8739=)
c.26148C>T (p.Leu8716=)
c.26315C>T (p.Ser8772Phe)
c.26303C>T (p.Ser8768Phe)
c.26153C>T (p.Ser8718Phe)
c.24593C>T (p.Ser8198Phe)
c.24086C>T (p.Ser8029Phe)
c.19553C>T (p.Ser6518Phe)
c.2718C>T (p.Leu906=)
c.26291C>T (p.Ser8764Phe)
c.26240C>T (p.Ser8747Phe)
c.26204C>T (p.Ser8735Phe)
c.26051C>T (p.Ser8684Phe)
c.26190C>T (p.Leu8730=)
c.26145C>T (p.Leu8715=)
c.26133C>T (p.Leu8711=)
 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122659G>CCA366089238ESR1,SYNE1c.2705C>G (p.Ser902Cys)
c.26171C>G (p.Ser8724Cys)
c.26027C>G (p.Ser8676Cys)
c.1514C>G
c.1889C>G
c.1756C>G
c.2021C>G (n.2021C>G)
c.24956C>G (p.Ser8319Cys)
n.2919C>G
c.4947C>G (p.Leu1649=)
n.9863C>G
c.4050C>G (p.Leu1350=)
n.9755C>G
c.851-2607G>C (n.851-2607G>C)
n.2785C>G
n.6808C>G
n.2949C>G
c.2636C>G (p.Ser879Cys)
c.26318C>G (p.Ser8773Cys)
c.26306C>G (p.Ser8769Cys)
c.26297C>G (p.Ser8766Cys)
c.26276C>G (p.Ser8759Cys)
c.26267C>G (p.Ser8756Cys)
c.26261C>G (p.Ser8754Cys)
c.26249C>G (p.Ser8750Cys)
c.26246C>G (p.Ser8749Cys)
c.26207C>G (p.Ser8736Cys)
c.26192C>G (p.Ser8731Cys)
c.26177C>G (p.Ser8726Cys)
c.26165C>G (p.Ser8722Cys)
c.26162C>G (p.Ser8721Cys)
c.26159C>G (p.Ser8720Cys)
c.26259C>G (p.Leu8753=)
c.26217C>G (p.Leu8739=)
c.26148C>G (p.Leu8716=)
c.26315C>G (p.Ser8772Cys)
c.26303C>G (p.Ser8768Cys)
c.26153C>G (p.Ser8718Cys)
c.24593C>G (p.Ser8198Cys)
c.24086C>G (p.Ser8029Cys)
c.19553C>G (p.Ser6518Cys)
c.2718C>G (p.Leu906=)
c.26291C>G (p.Ser8764Cys)
c.26240C>G (p.Ser8747Cys)
c.26204C>G (p.Ser8735Cys)
c.26051C>G (p.Ser8684Cys)
c.26190C>G (p.Leu8730=)
c.26145C>G (p.Leu8715=)
c.26133C>G (p.Leu8711=)
6g.152122659G>TCA366089239ESR1,SYNE1c.2705C>A (p.Ser902Tyr)
c.26171C>A (p.Ser8724Tyr)
c.26027C>A (p.Ser8676Tyr)
c.1514C>A
c.1889C>A
c.1756C>A
c.2021C>A (n.2021C>A)
c.24956C>A (p.Ser8319Tyr)
n.2919C>A
c.4947C>A (p.Leu1649=)
n.9863C>A
c.4050C>A (p.Leu1350=)
n.9755C>A
c.851-2607G>T (n.851-2607G>T)
n.2785C>A
n.6808C>A
n.2949C>A
c.2636C>A (p.Ser879Tyr)
c.26318C>A (p.Ser8773Tyr)
c.26306C>A (p.Ser8769Tyr)
c.26297C>A (p.Ser8766Tyr)
c.26276C>A (p.Ser8759Tyr)
c.26267C>A (p.Ser8756Tyr)
c.26261C>A (p.Ser8754Tyr)
c.26249C>A (p.Ser8750Tyr)
c.26246C>A (p.Ser8749Tyr)
c.26207C>A (p.Ser8736Tyr)
c.26192C>A (p.Ser8731Tyr)
c.26177C>A (p.Ser8726Tyr)
c.26165C>A (p.Ser8722Tyr)
c.26162C>A (p.Ser8721Tyr)
c.26159C>A (p.Ser8720Tyr)
c.26259C>A (p.Leu8753=)
c.26217C>A (p.Leu8739=)
c.26148C>A (p.Leu8716=)
c.26315C>A (p.Ser8772Tyr)
c.26303C>A (p.Ser8768Tyr)
c.26153C>A (p.Ser8718Tyr)
c.24593C>A (p.Ser8198Tyr)
c.24086C>A (p.Ser8029Tyr)
c.19553C>A (p.Ser6518Tyr)
c.2718C>A (p.Leu906=)
c.26291C>A (p.Ser8764Tyr)
c.26240C>A (p.Ser8747Tyr)
c.26204C>A (p.Ser8735Tyr)
c.26051C>A (p.Ser8684Tyr)
c.26190C>A (p.Leu8730=)
c.26145C>A (p.Leu8715=)
c.26133C>A (p.Leu8711=)
6g.152122660A>CCA366089242ESR1,SYNE1c.2704T>G (p.Ser902Ala)
c.26170T>G (p.Ser8724Ala)
c.26026T>G (p.Ser8676Ala)
c.1513T>G
c.1888T>G
c.1755T>G
c.2020T>G (n.2020T>G)
c.24955T>G (p.Ser8319Ala)
n.2918T>G
c.4946T>G (p.Leu1649Arg)
n.9862T>G
c.4049T>G (p.Leu1350Arg)
n.9754T>G
c.851-2606A>C (n.851-2606A>C)
n.2784T>G
n.6807T>G
n.2948T>G
c.2635T>G (p.Ser879Ala)
c.26317T>G (p.Ser8773Ala)
c.26305T>G (p.Ser8769Ala)
c.26296T>G (p.Ser8766Ala)
c.26275T>G (p.Ser8759Ala)
c.26266T>G (p.Ser8756Ala)
c.26260T>G (p.Ser8754Ala)
c.26248T>G (p.Ser8750Ala)
c.26245T>G (p.Ser8749Ala)
c.26206T>G (p.Ser8736Ala)
c.26191T>G (p.Ser8731Ala)
c.26176T>G (p.Ser8726Ala)
c.26164T>G (p.Ser8722Ala)
c.26161T>G (p.Ser8721Ala)
c.26158T>G (p.Ser8720Ala)
c.26258T>G (p.Leu8753Arg)
c.26216T>G (p.Leu8739Arg)
c.26147T>G (p.Leu8716Arg)
c.26314T>G (p.Ser8772Ala)
c.26302T>G (p.Ser8768Ala)
c.26152T>G (p.Ser8718Ala)
c.24592T>G (p.Ser8198Ala)
c.24085T>G (p.Ser8029Ala)
c.19552T>G (p.Ser6518Ala)
c.2717T>G (p.Leu906Arg)
c.26290T>G (p.Ser8764Ala)
c.26239T>G (p.Ser8747Ala)
c.26203T>G (p.Ser8735Ala)
c.26050T>G (p.Ser8684Ala)
c.26189T>G (p.Leu8730Arg)
c.26144T>G (p.Leu8715Arg)
c.26132T>G (p.Leu8711Arg)
6g.152122660A>GCA366089240ESR1,SYNE1c.2704T>C (p.Ser902Pro)
c.26170T>C (p.Ser8724Pro)
c.26026T>C (p.Ser8676Pro)
c.1513T>C
c.1888T>C
c.1755T>C
c.2020T>C (n.2020T>C)
c.24955T>C (p.Ser8319Pro)
n.2918T>C
c.4946T>C (p.Leu1649Pro)
n.9862T>C
c.4049T>C (p.Leu1350Pro)
n.9754T>C
c.851-2606A>G (n.851-2606A>G)
n.2784T>C
n.6807T>C
n.2948T>C
c.2635T>C (p.Ser879Pro)
c.26317T>C (p.Ser8773Pro)
c.26305T>C (p.Ser8769Pro)
c.26296T>C (p.Ser8766Pro)
c.26275T>C (p.Ser8759Pro)
c.26266T>C (p.Ser8756Pro)
c.26260T>C (p.Ser8754Pro)
c.26248T>C (p.Ser8750Pro)
c.26245T>C (p.Ser8749Pro)
c.26206T>C (p.Ser8736Pro)
c.26191T>C (p.Ser8731Pro)
c.26176T>C (p.Ser8726Pro)
c.26164T>C (p.Ser8722Pro)
c.26161T>C (p.Ser8721Pro)
c.26158T>C (p.Ser8720Pro)
c.26258T>C (p.Leu8753Pro)
c.26216T>C (p.Leu8739Pro)
c.26147T>C (p.Leu8716Pro)
c.26314T>C (p.Ser8772Pro)
c.26302T>C (p.Ser8768Pro)
c.26152T>C (p.Ser8718Pro)
c.24592T>C (p.Ser8198Pro)
c.24085T>C (p.Ser8029Pro)
c.19552T>C (p.Ser6518Pro)
c.2717T>C (p.Leu906Pro)
c.26290T>C (p.Ser8764Pro)
c.26239T>C (p.Ser8747Pro)
c.26203T>C (p.Ser8735Pro)
c.26050T>C (p.Ser8684Pro)
c.26189T>C (p.Leu8730Pro)
c.26144T>C (p.Leu8715Pro)
c.26132T>C (p.Leu8711Pro)
6g.152122660A>TCA366089241ESR1,SYNE1c.2704T>A (p.Ser902Thr)
c.26170T>A (p.Ser8724Thr)
c.26026T>A (p.Ser8676Thr)
c.1513T>A
c.1888T>A
c.1755T>A
c.2020T>A (n.2020T>A)
c.24955T>A (p.Ser8319Thr)
n.2918T>A
c.4946T>A (p.Leu1649His)
n.9862T>A
c.4049T>A (p.Leu1350His)
n.9754T>A
c.851-2606A>T (n.851-2606A>T)
n.2784T>A
n.6807T>A
n.2948T>A
c.2635T>A (p.Ser879Thr)
c.26317T>A (p.Ser8773Thr)
c.26305T>A (p.Ser8769Thr)
c.26296T>A (p.Ser8766Thr)
c.26275T>A (p.Ser8759Thr)
c.26266T>A (p.Ser8756Thr)
c.26260T>A (p.Ser8754Thr)
c.26248T>A (p.Ser8750Thr)
c.26245T>A (p.Ser8749Thr)
c.26206T>A (p.Ser8736Thr)
c.26191T>A (p.Ser8731Thr)
c.26176T>A (p.Ser8726Thr)
c.26164T>A (p.Ser8722Thr)
c.26161T>A (p.Ser8721Thr)
c.26158T>A (p.Ser8720Thr)
c.26258T>A (p.Leu8753His)
c.26216T>A (p.Leu8739His)
c.26147T>A (p.Leu8716His)
c.26314T>A (p.Ser8772Thr)
c.26302T>A (p.Ser8768Thr)
c.26152T>A (p.Ser8718Thr)
c.24592T>A (p.Ser8198Thr)
c.24085T>A (p.Ser8029Thr)
c.19552T>A (p.Ser6518Thr)
c.2717T>A (p.Leu906His)
c.26290T>A (p.Ser8764Thr)
c.26239T>A (p.Ser8747Thr)
c.26203T>A (p.Ser8735Thr)
c.26050T>A (p.Ser8684Thr)
c.26189T>A (p.Leu8730His)
c.26144T>A (p.Leu8715His)
c.26132T>A (p.Leu8711His)
6g.152122661G>ACA366089243ESR1,SYNE1c.2703C>T (p.Gly901=)
c.26169C>T (p.Gly8723=)
c.26025C>T (p.Gly8675=)
c.1512C>T
c.1887C>T
c.1754C>T
c.2019C>T (n.2019C>T)
c.24954C>T (p.Gly8318=)
n.2917C>T
c.4945C>T (p.Leu1649Phe)
n.9861C>T
c.4048C>T (p.Leu1350Phe)
n.9753C>T
c.851-2605G>A (n.851-2605G>A)
n.2783C>T
n.6806C>T
n.2947C>T
c.2634C>T (p.Gly878=)
c.26316C>T (p.Gly8772=)
c.26304C>T (p.Gly8768=)
c.26295C>T (p.Gly8765=)
c.26274C>T (p.Gly8758=)
c.26265C>T (p.Gly8755=)
c.26259C>T (p.Gly8753=)
c.26247C>T (p.Gly8749=)
c.26244C>T (p.Gly8748=)
c.26205C>T (p.Gly8735=)
c.26190C>T (p.Gly8730=)
c.26175C>T (p.Gly8725=)
c.26163C>T (p.Gly8721=)
c.26160C>T (p.Gly8720=)
c.26157C>T (p.Gly8719=)
c.26257C>T (p.Leu8753Phe)
c.26215C>T (p.Leu8739Phe)
c.26146C>T (p.Leu8716Phe)
c.26313C>T (p.Gly8771=)
c.26301C>T (p.Gly8767=)
c.26151C>T (p.Gly8717=)
c.24591C>T (p.Gly8197=)
c.24084C>T (p.Gly8028=)
c.19551C>T (p.Gly6517=)
c.2716C>T (p.Leu906Phe)
c.26289C>T (p.Gly8763=)
c.26238C>T (p.Gly8746=)
c.26202C>T (p.Gly8734=)
c.26049C>T (p.Gly8683=)
c.26188C>T (p.Leu8730Phe)
c.26143C>T (p.Leu8715Phe)
c.26131C>T (p.Leu8711Phe)
 gnomAD v4
6g.152122661G>CCA366089244ESR1,SYNE1c.2703C>G (p.Gly901=)
c.26169C>G (p.Gly8723=)
c.26025C>G (p.Gly8675=)
c.1512C>G
c.1887C>G
c.1754C>G
c.2019C>G (n.2019C>G)
c.24954C>G (p.Gly8318=)
n.2917C>G
c.4945C>G (p.Leu1649Val)
n.9861C>G
c.4048C>G (p.Leu1350Val)
n.9753C>G
c.851-2605G>C (n.851-2605G>C)
n.2783C>G
n.6806C>G
n.2947C>G
c.2634C>G (p.Gly878=)
c.26316C>G (p.Gly8772=)
c.26304C>G (p.Gly8768=)
c.26295C>G (p.Gly8765=)
c.26274C>G (p.Gly8758=)
c.26265C>G (p.Gly8755=)
c.26259C>G (p.Gly8753=)
c.26247C>G (p.Gly8749=)
c.26244C>G (p.Gly8748=)
c.26205C>G (p.Gly8735=)
c.26190C>G (p.Gly8730=)
c.26175C>G (p.Gly8725=)
c.26163C>G (p.Gly8721=)
c.26160C>G (p.Gly8720=)
c.26157C>G (p.Gly8719=)
c.26257C>G (p.Leu8753Val)
c.26215C>G (p.Leu8739Val)
c.26146C>G (p.Leu8716Val)
c.26313C>G (p.Gly8771=)
c.26301C>G (p.Gly8767=)
c.26151C>G (p.Gly8717=)
c.24591C>G (p.Gly8197=)
c.24084C>G (p.Gly8028=)
c.19551C>G (p.Gly6517=)
c.2716C>G (p.Leu906Val)
c.26289C>G (p.Gly8763=)
c.26238C>G (p.Gly8746=)
c.26202C>G (p.Gly8734=)
c.26049C>G (p.Gly8683=)
c.26188C>G (p.Leu8730Val)
c.26143C>G (p.Leu8715Val)
c.26131C>G (p.Leu8711Val)
6g.152122661G>TCA366089245ESR1,SYNE1c.2703C>A (p.Gly901=)
c.26169C>A (p.Gly8723=)
c.26025C>A (p.Gly8675=)
c.1512C>A
c.1887C>A
c.1754C>A
c.2019C>A (n.2019C>A)
c.24954C>A (p.Gly8318=)
n.2917C>A
c.4945C>A (p.Leu1649Ile)
n.9861C>A
c.4048C>A (p.Leu1350Ile)
n.9753C>A
c.851-2605G>T (n.851-2605G>T)
n.2783C>A
n.6806C>A
n.2947C>A
c.2634C>A (p.Gly878=)
c.26316C>A (p.Gly8772=)
c.26304C>A (p.Gly8768=)
c.26295C>A (p.Gly8765=)
c.26274C>A (p.Gly8758=)
c.26265C>A (p.Gly8755=)
c.26259C>A (p.Gly8753=)
c.26247C>A (p.Gly8749=)
c.26244C>A (p.Gly8748=)
c.26205C>A (p.Gly8735=)
c.26190C>A (p.Gly8730=)
c.26175C>A (p.Gly8725=)
c.26163C>A (p.Gly8721=)
c.26160C>A (p.Gly8720=)
c.26157C>A (p.Gly8719=)
c.26257C>A (p.Leu8753Ile)
c.26215C>A (p.Leu8739Ile)
c.26146C>A (p.Leu8716Ile)
c.26313C>A (p.Gly8771=)
c.26301C>A (p.Gly8767=)
c.26151C>A (p.Gly8717=)
c.24591C>A (p.Gly8197=)
c.24084C>A (p.Gly8028=)
c.19551C>A (p.Gly6517=)
c.2716C>A (p.Leu906Ile)
c.26289C>A (p.Gly8763=)
c.26238C>A (p.Gly8746=)
c.26202C>A (p.Gly8734=)
c.26049C>A (p.Gly8683=)
c.26188C>A (p.Leu8730Ile)
c.26143C>A (p.Leu8715Ile)
c.26131C>A (p.Leu8711Ile)
6g.152122662C>ACA366089246ESR1,SYNE1c.2702G>T (p.Gly901Val)
c.26168G>T (p.Gly8723Val)
c.26024G>T (p.Gly8675Val)
c.1511G>T
c.1886G>T
c.1753G>T
c.2018G>T (n.2018G>T)
c.24953G>T (p.Gly8318Val)
n.2916G>T
c.4944G>T (p.Trp1648Cys)
n.9860G>T
c.4047G>T (p.Trp1349Cys)
n.9752G>T
c.851-2604C>A (n.851-2604C>A)
n.2782G>T
n.6805G>T
n.2946G>T
c.2633G>T (p.Gly878Val)
c.26315G>T (p.Gly8772Val)
c.26303G>T (p.Gly8768Val)
c.26294G>T (p.Gly8765Val)
c.26273G>T (p.Gly8758Val)
c.26264G>T (p.Gly8755Val)
c.26258G>T (p.Gly8753Val)
c.26246G>T (p.Gly8749Val)
c.26243G>T (p.Gly8748Val)
c.26204G>T (p.Gly8735Val)
c.26189G>T (p.Gly8730Val)
c.26174G>T (p.Gly8725Val)
c.26162G>T (p.Gly8721Val)
c.26159G>T (p.Gly8720Val)
c.26156G>T (p.Gly8719Val)
c.26256G>T (p.Trp8752Cys)
c.26214G>T (p.Trp8738Cys)
c.26145G>T (p.Trp8715Cys)
c.26312G>T (p.Gly8771Val)
c.26300G>T (p.Gly8767Val)
c.26150G>T (p.Gly8717Val)
c.24590G>T (p.Gly8197Val)
c.24083G>T (p.Gly8028Val)
c.19550G>T (p.Gly6517Val)
c.2715G>T (p.Trp905Cys)
c.26288G>T (p.Gly8763Val)
c.26237G>T (p.Gly8746Val)
c.26201G>T (p.Gly8734Val)
c.26048G>T (p.Gly8683Val)
c.26187G>T (p.Trp8729Cys)
c.26142G>T (p.Trp8714Cys)
c.26130G>T (p.Trp8710Cys)
 gnomAD v4
6g.152122662C>GCA366089247ESR1,SYNE1c.2702G>C (p.Gly901Ala)
c.26168G>C (p.Gly8723Ala)
c.26024G>C (p.Gly8675Ala)
c.1511G>C
c.1886G>C
c.1753G>C
c.2018G>C (n.2018G>C)
c.24953G>C (p.Gly8318Ala)
n.2916G>C
c.4944G>C (p.Trp1648Cys)
n.9860G>C
c.4047G>C (p.Trp1349Cys)
n.9752G>C
c.851-2604C>G (n.851-2604C>G)
n.2782G>C
n.6805G>C
n.2946G>C
c.2633G>C (p.Gly878Ala)
c.26315G>C (p.Gly8772Ala)
c.26303G>C (p.Gly8768Ala)
c.26294G>C (p.Gly8765Ala)
c.26273G>C (p.Gly8758Ala)
c.26264G>C (p.Gly8755Ala)
c.26258G>C (p.Gly8753Ala)
c.26246G>C (p.Gly8749Ala)
c.26243G>C (p.Gly8748Ala)
c.26204G>C (p.Gly8735Ala)
c.26189G>C (p.Gly8730Ala)
c.26174G>C (p.Gly8725Ala)
c.26162G>C (p.Gly8721Ala)
c.26159G>C (p.Gly8720Ala)
c.26156G>C (p.Gly8719Ala)
c.26256G>C (p.Trp8752Cys)
c.26214G>C (p.Trp8738Cys)
c.26145G>C (p.Trp8715Cys)
c.26312G>C (p.Gly8771Ala)
c.26300G>C (p.Gly8767Ala)
c.26150G>C (p.Gly8717Ala)
c.24590G>C (p.Gly8197Ala)
c.24083G>C (p.Gly8028Ala)
c.19550G>C (p.Gly6517Ala)
c.2715G>C (p.Trp905Cys)
c.26288G>C (p.Gly8763Ala)
c.26237G>C (p.Gly8746Ala)
c.26201G>C (p.Gly8734Ala)
c.26048G>C (p.Gly8683Ala)
c.26187G>C (p.Trp8729Cys)
c.26142G>C (p.Trp8714Cys)
c.26130G>C (p.Trp8710Cys)
6g.152122662C>TCA366089248ESR1,SYNE1c.2702G>A (p.Gly901Asp)
c.26168G>A (p.Gly8723Asp)
c.26024G>A (p.Gly8675Asp)
c.1511G>A
c.1886G>A
c.1753G>A
c.2018G>A (n.2018G>A)
c.24953G>A (p.Gly8318Asp)
n.2916G>A
c.4944G>A (p.Trp1648Ter)
n.9860G>A
c.4047G>A (p.Trp1349Ter)
n.9752G>A
c.851-2604C>T (n.851-2604C>T)
n.2782G>A
n.6805G>A
n.2946G>A
c.2633G>A (p.Gly878Asp)
c.26315G>A (p.Gly8772Asp)
c.26303G>A (p.Gly8768Asp)
c.26294G>A (p.Gly8765Asp)
c.26273G>A (p.Gly8758Asp)
c.26264G>A (p.Gly8755Asp)
c.26258G>A (p.Gly8753Asp)
c.26246G>A (p.Gly8749Asp)
c.26243G>A (p.Gly8748Asp)
c.26204G>A (p.Gly8735Asp)
c.26189G>A (p.Gly8730Asp)
c.26174G>A (p.Gly8725Asp)
c.26162G>A (p.Gly8721Asp)
c.26159G>A (p.Gly8720Asp)
c.26156G>A (p.Gly8719Asp)
c.26256G>A (p.Trp8752Ter)
c.26214G>A (p.Trp8738Ter)
c.26145G>A (p.Trp8715Ter)
c.26312G>A (p.Gly8771Asp)
c.26300G>A (p.Gly8767Asp)
c.26150G>A (p.Gly8717Asp)
c.24590G>A (p.Gly8197Asp)
c.24083G>A (p.Gly8028Asp)
c.19550G>A (p.Gly6517Asp)
c.2715G>A (p.Trp905Ter)
c.26288G>A (p.Gly8763Asp)
c.26237G>A (p.Gly8746Asp)
c.26201G>A (p.Gly8734Asp)
c.26048G>A (p.Gly8683Asp)
c.26187G>A (p.Trp8729Ter)
c.26142G>A (p.Trp8714Ter)
c.26130G>A (p.Trp8710Ter)
6g.152122663C>ACA366089250ESR1,SYNE1c.2701G>T (p.Gly901Cys)
c.26167G>T (p.Gly8723Cys)
c.26023G>T (p.Gly8675Cys)
c.1510G>T
c.1885G>T
c.1752G>T
c.2017G>T (n.2017G>T)
c.24952G>T (p.Gly8318Cys)
n.2915G>T
c.4943G>T (p.Trp1648Leu)
n.9859G>T
c.4046G>T (p.Trp1349Leu)
n.9751G>T
c.851-2603C>A (n.851-2603C>A)
n.2781G>T
n.6804G>T
n.2945G>T
c.2632G>T (p.Gly878Cys)
c.26314G>T (p.Gly8772Cys)
c.26302G>T (p.Gly8768Cys)
c.26293G>T (p.Gly8765Cys)
c.26272G>T (p.Gly8758Cys)
c.26263G>T (p.Gly8755Cys)
c.26257G>T (p.Gly8753Cys)
c.26245G>T (p.Gly8749Cys)
c.26242G>T (p.Gly8748Cys)
c.26203G>T (p.Gly8735Cys)
c.26188G>T (p.Gly8730Cys)
c.26173G>T (p.Gly8725Cys)
c.26161G>T (p.Gly8721Cys)
c.26158G>T (p.Gly8720Cys)
c.26155G>T (p.Gly8719Cys)
c.26255G>T (p.Trp8752Leu)
c.26213G>T (p.Trp8738Leu)
c.26144G>T (p.Trp8715Leu)
c.26311G>T (p.Gly8771Cys)
c.26299G>T (p.Gly8767Cys)
c.26149G>T (p.Gly8717Cys)
c.24589G>T (p.Gly8197Cys)
c.24082G>T (p.Gly8028Cys)
c.19549G>T (p.Gly6517Cys)
c.2714G>T (p.Trp905Leu)
c.26287G>T (p.Gly8763Cys)
c.26236G>T (p.Gly8746Cys)
c.26200G>T (p.Gly8734Cys)
c.26047G>T (p.Gly8683Cys)
c.26186G>T (p.Trp8729Leu)
c.26141G>T (p.Trp8714Leu)
c.26129G>T (p.Trp8710Leu)
6g.152122663C>GCA366089251ESR1,SYNE1c.2701G>C (p.Gly901Arg)
c.26167G>C (p.Gly8723Arg)
c.26023G>C (p.Gly8675Arg)
c.1510G>C
c.1885G>C
c.1752G>C
c.2017G>C (n.2017G>C)
c.24952G>C (p.Gly8318Arg)
n.2915G>C
c.4943G>C (p.Trp1648Ser)
n.9859G>C
c.4046G>C (p.Trp1349Ser)
n.9751G>C
c.851-2603C>G (n.851-2603C>G)
n.2781G>C
n.6804G>C
n.2945G>C
c.2632G>C (p.Gly878Arg)
c.26314G>C (p.Gly8772Arg)
c.26302G>C (p.Gly8768Arg)
c.26293G>C (p.Gly8765Arg)
c.26272G>C (p.Gly8758Arg)
c.26263G>C (p.Gly8755Arg)
c.26257G>C (p.Gly8753Arg)
c.26245G>C (p.Gly8749Arg)
c.26242G>C (p.Gly8748Arg)
c.26203G>C (p.Gly8735Arg)
c.26188G>C (p.Gly8730Arg)
c.26173G>C (p.Gly8725Arg)
c.26161G>C (p.Gly8721Arg)
c.26158G>C (p.Gly8720Arg)
c.26155G>C (p.Gly8719Arg)
c.26255G>C (p.Trp8752Ser)
c.26213G>C (p.Trp8738Ser)
c.26144G>C (p.Trp8715Ser)
c.26311G>C (p.Gly8771Arg)
c.26299G>C (p.Gly8767Arg)
c.26149G>C (p.Gly8717Arg)
c.24589G>C (p.Gly8197Arg)
c.24082G>C (p.Gly8028Arg)
c.19549G>C (p.Gly6517Arg)
c.2714G>C (p.Trp905Ser)
c.26287G>C (p.Gly8763Arg)
c.26236G>C (p.Gly8746Arg)
c.26200G>C (p.Gly8734Arg)
c.26047G>C (p.Gly8683Arg)
c.26186G>C (p.Trp8729Ser)
c.26141G>C (p.Trp8714Ser)
c.26129G>C (p.Trp8710Ser)
6g.152122663C>TCA366089249ESR1,SYNE1c.2701G>A (p.Gly901Ser)
c.26167G>A (p.Gly8723Ser)
c.26023G>A (p.Gly8675Ser)
c.1510G>A
c.1885G>A
c.1752G>A
c.2017G>A (n.2017G>A)
c.24952G>A (p.Gly8318Ser)
n.2915G>A
c.4943G>A (p.Trp1648Ter)
n.9859G>A
c.4046G>A (p.Trp1349Ter)
n.9751G>A
c.851-2603C>T (n.851-2603C>T)
n.2781G>A
n.6804G>A
n.2945G>A
c.2632G>A (p.Gly878Ser)
c.26314G>A (p.Gly8772Ser)
c.26302G>A (p.Gly8768Ser)
c.26293G>A (p.Gly8765Ser)
c.26272G>A (p.Gly8758Ser)
c.26263G>A (p.Gly8755Ser)
c.26257G>A (p.Gly8753Ser)
c.26245G>A (p.Gly8749Ser)
c.26242G>A (p.Gly8748Ser)
c.26203G>A (p.Gly8735Ser)
c.26188G>A (p.Gly8730Ser)
c.26173G>A (p.Gly8725Ser)
c.26161G>A (p.Gly8721Ser)
c.26158G>A (p.Gly8720Ser)
c.26155G>A (p.Gly8719Ser)
c.26255G>A (p.Trp8752Ter)
c.26213G>A (p.Trp8738Ter)
c.26144G>A (p.Trp8715Ter)
c.26311G>A (p.Gly8771Ser)
c.26299G>A (p.Gly8767Ser)
c.26149G>A (p.Gly8717Ser)
c.24589G>A (p.Gly8197Ser)
c.24082G>A (p.Gly8028Ser)
c.19549G>A (p.Gly6517Ser)
c.2714G>A (p.Trp905Ter)
c.26287G>A (p.Gly8763Ser)
c.26236G>A (p.Gly8746Ser)
c.26200G>A (p.Gly8734Ser)
c.26047G>A (p.Gly8683Ser)
c.26186G>A (p.Trp8729Ter)
c.26141G>A (p.Trp8714Ter)
c.26129G>A (p.Trp8710Ter)
6g.152122664A=CA1673189287ESR1,SYNE1c.2700T= (p.Gly900=)
c.26166T= (p.Gly8722=)
c.26022T= (p.Gly8674=)
c.1509T=
c.1884T=
c.1751T=
c.2016T= (n.2016T=)
c.24951T= (p.Gly8317=)
n.2914T=
c.4942T= (p.Trp1648=)
n.9858T=
c.4045T= (p.Trp1349=)
n.9750T=
c.851-2602A= (n.851-2602A=)
n.2780T=
n.6803T=
n.2944T=
c.2631T= (p.Gly877=)
c.26313T= (p.Gly8771=)
c.26301T= (p.Gly8767=)
c.26292T= (p.Gly8764=)
c.26271T= (p.Gly8757=)
c.26262T= (p.Gly8754=)
c.26256T= (p.Gly8752=)
c.26244T= (p.Gly8748=)
c.26241T= (p.Gly8747=)
c.26202T= (p.Gly8734=)
c.26187T= (p.Gly8729=)
c.26172T= (p.Gly8724=)
c.26160T= (p.Gly8720=)
c.26157T= (p.Gly8719=)
c.26154T= (p.Gly8718=)
c.26254T= (p.Trp8752=)
c.26212T= (p.Trp8738=)
c.26143T= (p.Trp8715=)
c.26310T= (p.Gly8770=)
c.26298T= (p.Gly8766=)
c.26148T= (p.Gly8716=)
c.24588T= (p.Gly8196=)
c.24081T= (p.Gly8027=)
c.19548T= (p.Gly6516=)
c.2713T= (p.Trp905=)
c.26286T= (p.Gly8762=)
c.26235T= (p.Gly8745=)
c.26199T= (p.Gly8733=)
c.26046T= (p.Gly8682=)
c.26185T= (p.Trp8729=)
c.26140T= (p.Trp8714=)
c.26128T= (p.Trp8710=)
6g.152122664A>CCA4052616ESR1,SYNE1c.2700T>G (p.Gly900=)
c.26166T>G (p.Gly8722=)
c.26022T>G (p.Gly8674=)
c.1509T>G
c.1884T>G
c.1751T>G
c.2016T>G (n.2016T>G)
c.24951T>G (p.Gly8317=)
n.2914T>G
c.4942T>G (p.Trp1648Gly)
n.9858T>G
c.4045T>G (p.Trp1349Gly)
n.9750T>G
c.851-2602A>C (n.851-2602A>C)
n.2780T>G
n.6803T>G
n.2944T>G
c.2631T>G (p.Gly877=)
c.26313T>G (p.Gly8771=)
c.26301T>G (p.Gly8767=)
c.26292T>G (p.Gly8764=)
c.26271T>G (p.Gly8757=)
c.26262T>G (p.Gly8754=)
c.26256T>G (p.Gly8752=)
c.26244T>G (p.Gly8748=)
c.26241T>G (p.Gly8747=)
c.26202T>G (p.Gly8734=)
c.26187T>G (p.Gly8729=)
c.26172T>G (p.Gly8724=)
c.26160T>G (p.Gly8720=)
c.26157T>G (p.Gly8719=)
c.26154T>G (p.Gly8718=)
c.26254T>G (p.Trp8752Gly)
c.26212T>G (p.Trp8738Gly)
c.26143T>G (p.Trp8715Gly)
c.26310T>G (p.Gly8770=)
c.26298T>G (p.Gly8766=)
c.26148T>G (p.Gly8716=)
c.24588T>G (p.Gly8196=)
c.24081T>G (p.Gly8027=)
c.19548T>G (p.Gly6516=)
c.2713T>G (p.Trp905Gly)
c.26286T>G (p.Gly8762=)
c.26235T>G (p.Gly8745=)
c.26199T>G (p.Gly8733=)
c.26046T>G (p.Gly8682=)
c.26185T>G (p.Trp8729Gly)
c.26140T>G (p.Trp8714Gly)
c.26128T>G (p.Trp8710Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122664A>GCA366089252ESR1,SYNE1c.2700T>C (p.Gly900=)
c.26166T>C (p.Gly8722=)
c.26022T>C (p.Gly8674=)
c.1509T>C
c.1884T>C
c.1751T>C
c.2016T>C (n.2016T>C)
c.24951T>C (p.Gly8317=)
n.2914T>C
c.4942T>C (p.Trp1648Arg)
n.9858T>C
c.4045T>C (p.Trp1349Arg)
n.9750T>C
c.851-2602A>G (n.851-2602A>G)
n.2780T>C
n.6803T>C
n.2944T>C
c.2631T>C (p.Gly877=)
c.26313T>C (p.Gly8771=)
c.26301T>C (p.Gly8767=)
c.26292T>C (p.Gly8764=)
c.26271T>C (p.Gly8757=)
c.26262T>C (p.Gly8754=)
c.26256T>C (p.Gly8752=)
c.26244T>C (p.Gly8748=)
c.26241T>C (p.Gly8747=)
c.26202T>C (p.Gly8734=)
c.26187T>C (p.Gly8729=)
c.26172T>C (p.Gly8724=)
c.26160T>C (p.Gly8720=)
c.26157T>C (p.Gly8719=)
c.26154T>C (p.Gly8718=)
c.26254T>C (p.Trp8752Arg)
c.26212T>C (p.Trp8738Arg)
c.26143T>C (p.Trp8715Arg)
c.26310T>C (p.Gly8770=)
c.26298T>C (p.Gly8766=)
c.26148T>C (p.Gly8716=)
c.24588T>C (p.Gly8196=)
c.24081T>C (p.Gly8027=)
c.19548T>C (p.Gly6516=)
c.2713T>C (p.Trp905Arg)
c.26286T>C (p.Gly8762=)
c.26235T>C (p.Gly8745=)
c.26199T>C (p.Gly8733=)
c.26046T>C (p.Gly8682=)
c.26185T>C (p.Trp8729Arg)
c.26140T>C (p.Trp8714Arg)
c.26128T>C (p.Trp8710Arg)
6g.152122664A>TCA366089253ESR1,SYNE1c.2700T>A (p.Gly900=)
c.26166T>A (p.Gly8722=)
c.26022T>A (p.Gly8674=)
c.1509T>A
c.1884T>A
c.1751T>A
c.2016T>A (n.2016T>A)
c.24951T>A (p.Gly8317=)
n.2914T>A
c.4942T>A (p.Trp1648Arg)
n.9858T>A
c.4045T>A (p.Trp1349Arg)
n.9750T>A
c.851-2602A>T (n.851-2602A>T)
n.2780T>A
n.6803T>A
n.2944T>A
c.2631T>A (p.Gly877=)
c.26313T>A (p.Gly8771=)
c.26301T>A (p.Gly8767=)
c.26292T>A (p.Gly8764=)
c.26271T>A (p.Gly8757=)
c.26262T>A (p.Gly8754=)
c.26256T>A (p.Gly8752=)
c.26244T>A (p.Gly8748=)
c.26241T>A (p.Gly8747=)
c.26202T>A (p.Gly8734=)
c.26187T>A (p.Gly8729=)
c.26172T>A (p.Gly8724=)
c.26160T>A (p.Gly8720=)
c.26157T>A (p.Gly8719=)
c.26154T>A (p.Gly8718=)
c.26254T>A (p.Trp8752Arg)
c.26212T>A (p.Trp8738Arg)
c.26143T>A (p.Trp8715Arg)
c.26310T>A (p.Gly8770=)
c.26298T>A (p.Gly8766=)
c.26148T>A (p.Gly8716=)
c.24588T>A (p.Gly8196=)
c.24081T>A (p.Gly8027=)
c.19548T>A (p.Gly6516=)
c.2713T>A (p.Trp905Arg)
c.26286T>A (p.Gly8762=)
c.26235T>A (p.Gly8745=)
c.26199T>A (p.Gly8733=)
c.26046T>A (p.Gly8682=)
c.26185T>A (p.Trp8729Arg)
c.26140T>A (p.Trp8714Arg)
c.26128T>A (p.Trp8710Arg)
6g.152122664_152122665delinsACCA1673189289ESR1,SYNE1c.2699_2700delinsGT (p.Gly900=)
c.26165_26166delinsGT (p.Gly8722=)
c.26021_26022delinsGT (p.Gly8674=)
c.1508_1509delinsGT
c.1883_1884delinsGT
c.1750_1751delinsGT
c.2015_2016delinsGT (n.2015_2016delinsGT)
c.24950_24951delinsGT (p.Gly8317=)
n.2913_2914delinsGT
c.4941_4942delinsGT (p.Arg1647=)
n.9857_9858delinsGT
c.4044_4045delinsGT (p.Arg1348=)
n.9749_9750delinsGT
c.851-2602_851-2601delinsAC (n.851-2602_851-2601delinsAC)
n.2779_2780delinsGT
n.6802_6803delinsGT
n.2943_2944delinsGT
c.2630_2631delinsGT (p.Gly877=)
c.26312_26313delinsGT (p.Gly8771=)
c.26300_26301delinsGT (p.Gly8767=)
c.26291_26292delinsGT (p.Gly8764=)
c.26270_26271delinsGT (p.Gly8757=)
c.26261_26262delinsGT (p.Gly8754=)
c.26255_26256delinsGT (p.Gly8752=)
c.26243_26244delinsGT (p.Gly8748=)
c.26240_26241delinsGT (p.Gly8747=)
c.26201_26202delinsGT (p.Gly8734=)
c.26186_26187delinsGT (p.Gly8729=)
c.26171_26172delinsGT (p.Gly8724=)
c.26159_26160delinsGT (p.Gly8720=)
c.26156_26157delinsGT (p.Gly8719=)
c.26153_26154delinsGT (p.Gly8718=)
c.26253_26254delinsGT (p.Arg8751=)
c.26211_26212delinsGT (p.Arg8737=)
c.26142_26143delinsGT (p.Arg8714=)
c.26309_26310delinsGT (p.Gly8770=)
c.26297_26298delinsGT (p.Gly8766=)
c.26147_26148delinsGT (p.Gly8716=)
c.24587_24588delinsGT (p.Gly8196=)
c.24080_24081delinsGT (p.Gly8027=)
c.19547_19548delinsGT (p.Gly6516=)
c.2712_2713delinsGT (p.Arg904=)
c.26285_26286delinsGT (p.Gly8762=)
c.26234_26235delinsGT (p.Gly8745=)
c.26198_26199delinsGT (p.Gly8733=)
c.26045_26046delinsGT (p.Gly8682=)
c.26184_26185delinsGT (p.Arg8728=)
c.26139_26140delinsGT (p.Arg8713=)
c.26127_26128delinsGT (p.Arg8709=)
6g.152122665C>ACA366089254ESR1,SYNE1c.2699G>T (p.Gly900Val)
c.26165G>T (p.Gly8722Val)
c.26021G>T (p.Gly8674Val)
c.1508G>T
c.1883G>T
c.1750G>T
c.2015G>T (n.2015G>T)
c.24950G>T (p.Gly8317Val)
n.2913G>T
c.4941G>T (p.Arg1647Ser)
n.9857G>T
c.4044G>T (p.Arg1348Ser)
n.9749G>T
c.851-2601C>A (n.851-2601C>A)
n.2779G>T
n.6802G>T
n.2943G>T
c.2630G>T (p.Gly877Val)
c.26312G>T (p.Gly8771Val)
c.26300G>T (p.Gly8767Val)
c.26291G>T (p.Gly8764Val)
c.26270G>T (p.Gly8757Val)
c.26261G>T (p.Gly8754Val)
c.26255G>T (p.Gly8752Val)
c.26243G>T (p.Gly8748Val)
c.26240G>T (p.Gly8747Val)
c.26201G>T (p.Gly8734Val)
c.26186G>T (p.Gly8729Val)
c.26171G>T (p.Gly8724Val)
c.26159G>T (p.Gly8720Val)
c.26156G>T (p.Gly8719Val)
c.26153G>T (p.Gly8718Val)
c.26253G>T (p.Arg8751Ser)
c.26211G>T (p.Arg8737Ser)
c.26142G>T (p.Arg8714Ser)
c.26309G>T (p.Gly8770Val)
c.26297G>T (p.Gly8766Val)
c.26147G>T (p.Gly8716Val)
c.24587G>T (p.Gly8196Val)
c.24080G>T (p.Gly8027Val)
c.19547G>T (p.Gly6516Val)
c.2712G>T (p.Arg904Ser)
c.26285G>T (p.Gly8762Val)
c.26234G>T (p.Gly8745Val)
c.26198G>T (p.Gly8733Val)
c.26045G>T (p.Gly8682Val)
c.26184G>T (p.Arg8728Ser)
c.26139G>T (p.Arg8713Ser)
c.26127G>T (p.Arg8709Ser)
6g.152122665C>GCA366089256ESR1,SYNE1c.2699G>C (p.Gly900Ala)
c.26165G>C (p.Gly8722Ala)
c.26021G>C (p.Gly8674Ala)
c.1508G>C
c.1883G>C
c.1750G>C
c.2015G>C (n.2015G>C)
c.24950G>C (p.Gly8317Ala)
n.2913G>C
c.4941G>C (p.Arg1647Ser)
n.9857G>C
c.4044G>C (p.Arg1348Ser)
n.9749G>C
c.851-2601C>G (n.851-2601C>G)
n.2779G>C
n.6802G>C
n.2943G>C
c.2630G>C (p.Gly877Ala)
c.26312G>C (p.Gly8771Ala)
c.26300G>C (p.Gly8767Ala)
c.26291G>C (p.Gly8764Ala)
c.26270G>C (p.Gly8757Ala)
c.26261G>C (p.Gly8754Ala)
c.26255G>C (p.Gly8752Ala)
c.26243G>C (p.Gly8748Ala)
c.26240G>C (p.Gly8747Ala)
c.26201G>C (p.Gly8734Ala)
c.26186G>C (p.Gly8729Ala)
c.26171G>C (p.Gly8724Ala)
c.26159G>C (p.Gly8720Ala)
c.26156G>C (p.Gly8719Ala)
c.26153G>C (p.Gly8718Ala)
c.26253G>C (p.Arg8751Ser)
c.26211G>C (p.Arg8737Ser)
c.26142G>C (p.Arg8714Ser)
c.26309G>C (p.Gly8770Ala)
c.26297G>C (p.Gly8766Ala)
c.26147G>C (p.Gly8716Ala)
c.24587G>C (p.Gly8196Ala)
c.24080G>C (p.Gly8027Ala)
c.19547G>C (p.Gly6516Ala)
c.2712G>C (p.Arg904Ser)
c.26285G>C (p.Gly8762Ala)
c.26234G>C (p.Gly8745Ala)
c.26198G>C (p.Gly8733Ala)
c.26045G>C (p.Gly8682Ala)
c.26184G>C (p.Arg8728Ser)
c.26139G>C (p.Arg8713Ser)
c.26127G>C (p.Arg8709Ser)
6g.152122665C>TCA366089255ESR1,SYNE1c.2699G>A (p.Gly900Asp)
c.26165G>A (p.Gly8722Asp)
c.26021G>A (p.Gly8674Asp)
c.1508G>A
c.1883G>A
c.1750G>A
c.2015G>A (n.2015G>A)
c.24950G>A (p.Gly8317Asp)
n.2913G>A
c.4941G>A (p.Arg1647=)
n.9857G>A
c.4044G>A (p.Arg1348=)
n.9749G>A
c.851-2601C>T (n.851-2601C>T)
n.2779G>A
n.6802G>A
n.2943G>A
c.2630G>A (p.Gly877Asp)
c.26312G>A (p.Gly8771Asp)
c.26300G>A (p.Gly8767Asp)
c.26291G>A (p.Gly8764Asp)
c.26270G>A (p.Gly8757Asp)
c.26261G>A (p.Gly8754Asp)
c.26255G>A (p.Gly8752Asp)
c.26243G>A (p.Gly8748Asp)
c.26240G>A (p.Gly8747Asp)
c.26201G>A (p.Gly8734Asp)
c.26186G>A (p.Gly8729Asp)
c.26171G>A (p.Gly8724Asp)
c.26159G>A (p.Gly8720Asp)
c.26156G>A (p.Gly8719Asp)
c.26153G>A (p.Gly8718Asp)
c.26253G>A (p.Arg8751=)
c.26211G>A (p.Arg8737=)
c.26142G>A (p.Arg8714=)
c.26309G>A (p.Gly8770Asp)
c.26297G>A (p.Gly8766Asp)
c.26147G>A (p.Gly8716Asp)
c.24587G>A (p.Gly8196Asp)
c.24080G>A (p.Gly8027Asp)
c.19547G>A (p.Gly6516Asp)
c.2712G>A (p.Arg904=)
c.26285G>A (p.Gly8762Asp)
c.26234G>A (p.Gly8745Asp)
c.26198G>A (p.Gly8733Asp)
c.26045G>A (p.Gly8682Asp)
c.26184G>A (p.Arg8728=)
c.26139G>A (p.Arg8713=)
c.26127G>A (p.Arg8709=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122666delCA1673189299ESR1,SYNE1c.2699del (p.Gly900ValfsTer?)
c.26165del (p.Gly8722ValfsTer?)
c.26021del (p.Gly8674ValfsTer?)
c.1508del
c.1883del
c.1750del
c.2015del (n.2015del)
c.24950del (p.Gly8317ValfsTer?)
n.2913del
c.4941del (p.Arg1647SerfsTer?)
n.9857del
c.4044del (p.Arg1348SerfsTer?)
n.9749del
c.851-2600del (n.851-2600del)
n.2779del
n.6802del
n.2943del
c.2630del (p.Gly877ValfsTer?)
c.26312del (p.Gly8771ValfsTer?)
c.26300del (p.Gly8767ValfsTer?)
c.26291del (p.Gly8764ValfsTer?)
c.26270del (p.Gly8757ValfsTer?)
c.26261del (p.Gly8754ValfsTer?)
c.26255del (p.Gly8752ValfsTer?)
c.26243del (p.Gly8748ValfsTer?)
c.26240del (p.Gly8747ValfsTer?)
c.26201del (p.Gly8734ValfsTer?)
c.26186del (p.Gly8729ValfsTer?)
c.26171del (p.Gly8724ValfsTer?)
c.26159del (p.Gly8720ValfsTer?)
c.26156del (p.Gly8719ValfsTer?)
c.26153del (p.Gly8718ValfsTer?)
c.26253del (p.Arg8751SerfsTer?)
c.26211del (p.Arg8737SerfsTer?)
c.26142del (p.Arg8714SerfsTer?)
c.26309del (p.Gly8770ValfsTer?)
c.26297del (p.Gly8766ValfsTer?)
c.26147del (p.Gly8716ValfsTer?)
c.24587del (p.Gly8196ValfsTer?)
c.24080del (p.Gly8027ValfsTer?)
c.19547del (p.Gly6516ValfsTer?)
c.2712del (p.Arg904SerfsTer?)
c.26285del (p.Gly8762ValfsTer?)
c.26234del (p.Gly8745ValfsTer?)
c.26198del (p.Gly8733ValfsTer?)
c.26045del (p.Gly8682ValfsTer?)
c.26184del (p.Arg8728SerfsTer?)
c.26139del (p.Arg8713SerfsTer?)
c.26127del (p.Arg8709SerfsTer?)
 dbSNP
6g.152122666C>ACA366089257ESR1,SYNE1c.2698G>T (p.Gly900Cys)
c.26164G>T (p.Gly8722Cys)
c.26020G>T (p.Gly8674Cys)
c.1507G>T
c.1882G>T
c.1749G>T
c.2014G>T (n.2014G>T)
c.24949G>T (p.Gly8317Cys)
n.2912G>T
c.4940G>T (p.Arg1647Met)
n.9856G>T
c.4043G>T (p.Arg1348Met)
n.9748G>T
c.851-2600C>A (n.851-2600C>A)
n.2778G>T
n.6801G>T
n.2942G>T
c.2629G>T (p.Gly877Cys)
c.26311G>T (p.Gly8771Cys)
c.26299G>T (p.Gly8767Cys)
c.26290G>T (p.Gly8764Cys)
c.26269G>T (p.Gly8757Cys)
c.26260G>T (p.Gly8754Cys)
c.26254G>T (p.Gly8752Cys)
c.26242G>T (p.Gly8748Cys)
c.26239G>T (p.Gly8747Cys)
c.26200G>T (p.Gly8734Cys)
c.26185G>T (p.Gly8729Cys)
c.26170G>T (p.Gly8724Cys)
c.26158G>T (p.Gly8720Cys)
c.26155G>T (p.Gly8719Cys)
c.26152G>T (p.Gly8718Cys)
c.26252G>T (p.Arg8751Met)
c.26210G>T (p.Arg8737Met)
c.26141G>T (p.Arg8714Met)
c.26308G>T (p.Gly8770Cys)
c.26296G>T (p.Gly8766Cys)
c.26146G>T (p.Gly8716Cys)
c.24586G>T (p.Gly8196Cys)
c.24079G>T (p.Gly8027Cys)
c.19546G>T (p.Gly6516Cys)
c.2711G>T (p.Arg904Met)
c.26284G>T (p.Gly8762Cys)
c.26233G>T (p.Gly8745Cys)
c.26197G>T (p.Gly8733Cys)
c.26044G>T (p.Gly8682Cys)
c.26183G>T (p.Arg8728Met)
c.26138G>T (p.Arg8713Met)
c.26126G>T (p.Arg8709Met)
6g.152122666C=CA1673189307ESR1,SYNE1c.2698G= (p.Gly900=)
c.26164G= (p.Gly8722=)
c.26020G= (p.Gly8674=)
c.1507G=
c.1882G=
c.1749G=
c.2014G= (n.2014G=)
c.24949G= (p.Gly8317=)
n.2912G=
c.4940G= (p.Arg1647=)
n.9856G=
c.4043G= (p.Arg1348=)
n.9748G=
c.851-2600C= (n.851-2600C=)
n.2778G=
n.6801G=
n.2942G=
c.2629G= (p.Gly877=)
c.26311G= (p.Gly8771=)
c.26299G= (p.Gly8767=)
c.26290G= (p.Gly8764=)
c.26269G= (p.Gly8757=)
c.26260G= (p.Gly8754=)
c.26254G= (p.Gly8752=)
c.26242G= (p.Gly8748=)
c.26239G= (p.Gly8747=)
c.26200G= (p.Gly8734=)
c.26185G= (p.Gly8729=)
c.26170G= (p.Gly8724=)
c.26158G= (p.Gly8720=)
c.26155G= (p.Gly8719=)
c.26152G= (p.Gly8718=)
c.26252G= (p.Arg8751=)
c.26210G= (p.Arg8737=)
c.26141G= (p.Arg8714=)
c.26308G= (p.Gly8770=)
c.26296G= (p.Gly8766=)
c.26146G= (p.Gly8716=)
c.24586G= (p.Gly8196=)
c.24079G= (p.Gly8027=)
c.19546G= (p.Gly6516=)
c.2711G= (p.Arg904=)
c.26284G= (p.Gly8762=)
c.26233G= (p.Gly8745=)
c.26197G= (p.Gly8733=)
c.26044G= (p.Gly8682=)
c.26183G= (p.Arg8728=)
c.26138G= (p.Arg8713=)
c.26126G= (p.Arg8709=)
6g.152122666C>GCA366089259ESR1,SYNE1c.2698G>C (p.Gly900Arg)
c.26164G>C (p.Gly8722Arg)
c.26020G>C (p.Gly8674Arg)
c.1507G>C
c.1882G>C
c.1749G>C
c.2014G>C (n.2014G>C)
c.24949G>C (p.Gly8317Arg)
n.2912G>C
c.4940G>C (p.Arg1647Thr)
n.9856G>C
c.4043G>C (p.Arg1348Thr)
n.9748G>C
c.851-2600C>G (n.851-2600C>G)
n.2778G>C
n.6801G>C
n.2942G>C
c.2629G>C (p.Gly877Arg)
c.26311G>C (p.Gly8771Arg)
c.26299G>C (p.Gly8767Arg)
c.26290G>C (p.Gly8764Arg)
c.26269G>C (p.Gly8757Arg)
c.26260G>C (p.Gly8754Arg)
c.26254G>C (p.Gly8752Arg)
c.26242G>C (p.Gly8748Arg)
c.26239G>C (p.Gly8747Arg)
c.26200G>C (p.Gly8734Arg)
c.26185G>C (p.Gly8729Arg)
c.26170G>C (p.Gly8724Arg)
c.26158G>C (p.Gly8720Arg)
c.26155G>C (p.Gly8719Arg)
c.26152G>C (p.Gly8718Arg)
c.26252G>C (p.Arg8751Thr)
c.26210G>C (p.Arg8737Thr)
c.26141G>C (p.Arg8714Thr)
c.26308G>C (p.Gly8770Arg)
c.26296G>C (p.Gly8766Arg)
c.26146G>C (p.Gly8716Arg)
c.24586G>C (p.Gly8196Arg)
c.24079G>C (p.Gly8027Arg)
c.19546G>C (p.Gly6516Arg)
c.2711G>C (p.Arg904Thr)
c.26284G>C (p.Gly8762Arg)
c.26233G>C (p.Gly8745Arg)
c.26197G>C (p.Gly8733Arg)
c.26044G>C (p.Gly8682Arg)
c.26183G>C (p.Arg8728Thr)
c.26138G>C (p.Arg8713Thr)
c.26126G>C (p.Arg8709Thr)
6g.152122666C>TCA366089258ESR1,SYNE1c.2698G>A (p.Gly900Ser)
c.26164G>A (p.Gly8722Ser)
c.26020G>A (p.Gly8674Ser)
c.1507G>A
c.1882G>A
c.1749G>A
c.2014G>A (n.2014G>A)
c.24949G>A (p.Gly8317Ser)
n.2912G>A
c.4940G>A (p.Arg1647Lys)
n.9856G>A
c.4043G>A (p.Arg1348Lys)
n.9748G>A
c.851-2600C>T (n.851-2600C>T)
n.2778G>A
n.6801G>A
n.2942G>A
c.2629G>A (p.Gly877Ser)
c.26311G>A (p.Gly8771Ser)
c.26299G>A (p.Gly8767Ser)
c.26290G>A (p.Gly8764Ser)
c.26269G>A (p.Gly8757Ser)
c.26260G>A (p.Gly8754Ser)
c.26254G>A (p.Gly8752Ser)
c.26242G>A (p.Gly8748Ser)
c.26239G>A (p.Gly8747Ser)
c.26200G>A (p.Gly8734Ser)
c.26185G>A (p.Gly8729Ser)
c.26170G>A (p.Gly8724Ser)
c.26158G>A (p.Gly8720Ser)
c.26155G>A (p.Gly8719Ser)
c.26152G>A (p.Gly8718Ser)
c.26252G>A (p.Arg8751Lys)
c.26210G>A (p.Arg8737Lys)
c.26141G>A (p.Arg8714Lys)
c.26308G>A (p.Gly8770Ser)
c.26296G>A (p.Gly8766Ser)
c.26146G>A (p.Gly8716Ser)
c.24586G>A (p.Gly8196Ser)
c.24079G>A (p.Gly8027Ser)
c.19546G>A (p.Gly6516Ser)
c.2711G>A (p.Arg904Lys)
c.26284G>A (p.Gly8762Ser)
c.26233G>A (p.Gly8745Ser)
c.26197G>A (p.Gly8733Ser)
c.26044G>A (p.Gly8682Ser)
c.26183G>A (p.Arg8728Lys)
c.26138G>A (p.Arg8713Lys)
c.26126G>A (p.Arg8709Lys)
 dbSNP gnomAD v3 gnomAD v4
6g.152122667T>ACA366089260ESR1,SYNE1c.2697A>T (p.Lys899Asn)
c.26163A>T (p.Lys8721Asn)
c.26019A>T (p.Lys8673Asn)
c.1506A>T
c.1881A>T
c.1748A>T
c.2013A>T (n.2013A>T)
c.24948A>T (p.Lys8316Asn)
n.2911A>T
c.4939A>T (p.Arg1647Trp)
n.9855A>T
c.4042A>T (p.Arg1348Trp)
n.9747A>T
c.851-2599T>A (n.851-2599T>A)
n.2777A>T
n.6800A>T
n.2941A>T
c.2628A>T (p.Lys876Asn)
c.26310A>T (p.Lys8770Asn)
c.26298A>T (p.Lys8766Asn)
c.26289A>T (p.Lys8763Asn)
c.26268A>T (p.Lys8756Asn)
c.26259A>T (p.Lys8753Asn)
c.26253A>T (p.Lys8751Asn)
c.26241A>T (p.Lys8747Asn)
c.26238A>T (p.Lys8746Asn)
c.26199A>T (p.Lys8733Asn)
c.26184A>T (p.Lys8728Asn)
c.26169A>T (p.Lys8723Asn)
c.26157A>T (p.Lys8719Asn)
c.26154A>T (p.Lys8718Asn)
c.26151A>T (p.Lys8717Asn)
c.26251A>T (p.Arg8751Trp)
c.26209A>T (p.Arg8737Trp)
c.26140A>T (p.Arg8714Trp)
c.26307A>T (p.Lys8769Asn)
c.26295A>T (p.Lys8765Asn)
c.26145A>T (p.Lys8715Asn)
c.24585A>T (p.Lys8195Asn)
c.24078A>T (p.Lys8026Asn)
c.19545A>T (p.Lys6515Asn)
c.2710A>T (p.Arg904Trp)
c.26283A>T (p.Lys8761Asn)
c.26232A>T (p.Lys8744Asn)
c.26196A>T (p.Lys8732Asn)
c.26043A>T (p.Lys8681Asn)
c.26182A>T (p.Arg8728Trp)
c.26137A>T (p.Arg8713Trp)
c.26125A>T (p.Arg8709Trp)
6g.152122667T>CCA366089262ESR1,SYNE1c.2697A>G (p.Lys899=)
c.26163A>G (p.Lys8721=)
c.26019A>G (p.Lys8673=)
c.1506A>G
c.1881A>G
c.1748A>G
c.2013A>G (n.2013A>G)
c.24948A>G (p.Lys8316=)
n.2911A>G
c.4939A>G (p.Arg1647Gly)
n.9855A>G
c.4042A>G (p.Arg1348Gly)
n.9747A>G
c.851-2599T>C (n.851-2599T>C)
n.2777A>G
n.6800A>G
n.2941A>G
c.2628A>G (p.Lys876=)
c.26310A>G (p.Lys8770=)
c.26298A>G (p.Lys8766=)
c.26289A>G (p.Lys8763=)
c.26268A>G (p.Lys8756=)
c.26259A>G (p.Lys8753=)
c.26253A>G (p.Lys8751=)
c.26241A>G (p.Lys8747=)
c.26238A>G (p.Lys8746=)
c.26199A>G (p.Lys8733=)
c.26184A>G (p.Lys8728=)
c.26169A>G (p.Lys8723=)
c.26157A>G (p.Lys8719=)
c.26154A>G (p.Lys8718=)
c.26151A>G (p.Lys8717=)
c.26251A>G (p.Arg8751Gly)
c.26209A>G (p.Arg8737Gly)
c.26140A>G (p.Arg8714Gly)
c.26307A>G (p.Lys8769=)
c.26295A>G (p.Lys8765=)
c.26145A>G (p.Lys8715=)
c.24585A>G (p.Lys8195=)
c.24078A>G (p.Lys8026=)
c.19545A>G (p.Lys6515=)
c.2710A>G (p.Arg904Gly)
c.26283A>G (p.Lys8761=)
c.26232A>G (p.Lys8744=)
c.26196A>G (p.Lys8732=)
c.26043A>G (p.Lys8681=)
c.26182A>G (p.Arg8728Gly)
c.26137A>G (p.Arg8713Gly)
c.26125A>G (p.Arg8709Gly)
6g.152122667T>GCA366089261ESR1,SYNE1c.2697A>C (p.Lys899Asn)
c.26163A>C (p.Lys8721Asn)
c.26019A>C (p.Lys8673Asn)
c.1506A>C
c.1881A>C
c.1748A>C
c.2013A>C (n.2013A>C)
c.24948A>C (p.Lys8316Asn)
n.2911A>C
c.4939A>C (p.Arg1647=)
n.9855A>C
c.4042A>C (p.Arg1348=)
n.9747A>C
c.851-2599T>G (n.851-2599T>G)
n.2777A>C
n.6800A>C
n.2941A>C
c.2628A>C (p.Lys876Asn)
c.26310A>C (p.Lys8770Asn)
c.26298A>C (p.Lys8766Asn)
c.26289A>C (p.Lys8763Asn)
c.26268A>C (p.Lys8756Asn)
c.26259A>C (p.Lys8753Asn)
c.26253A>C (p.Lys8751Asn)
c.26241A>C (p.Lys8747Asn)
c.26238A>C (p.Lys8746Asn)
c.26199A>C (p.Lys8733Asn)
c.26184A>C (p.Lys8728Asn)
c.26169A>C (p.Lys8723Asn)
c.26157A>C (p.Lys8719Asn)
c.26154A>C (p.Lys8718Asn)
c.26151A>C (p.Lys8717Asn)
c.26251A>C (p.Arg8751=)
c.26209A>C (p.Arg8737=)
c.26140A>C (p.Arg8714=)
c.26307A>C (p.Lys8769Asn)
c.26295A>C (p.Lys8765Asn)
c.26145A>C (p.Lys8715Asn)
c.24585A>C (p.Lys8195Asn)
c.24078A>C (p.Lys8026Asn)
c.19545A>C (p.Lys6515Asn)
c.2710A>C (p.Arg904=)
c.26283A>C (p.Lys8761Asn)
c.26232A>C (p.Lys8744Asn)
c.26196A>C (p.Lys8732Asn)
c.26043A>C (p.Lys8681Asn)
c.26182A>C (p.Arg8728=)
c.26137A>C (p.Arg8713=)
c.26125A>C (p.Arg8709=)
 COSMIC COSMIC COSMIC
6g.152122668T>ACA366089263ESR1,SYNE1c.2696A>T (p.Lys899Ile)
c.26162A>T (p.Lys8721Ile)
c.26018A>T (p.Lys8673Ile)
c.1505A>T
c.1880A>T
c.1747A>T
c.2012A>T (n.2012A>T)
c.24947A>T (p.Lys8316Ile)
n.2910A>T
c.4938A>T (p.Lys1646Asn)
n.9854A>T
c.4041A>T (p.Lys1347Asn)
n.9746A>T
c.851-2598T>A (n.851-2598T>A)
n.2776A>T
n.6799A>T
n.2940A>T
c.2627A>T (p.Lys876Ile)
c.26309A>T (p.Lys8770Ile)
c.26297A>T (p.Lys8766Ile)
c.26288A>T (p.Lys8763Ile)
c.26267A>T (p.Lys8756Ile)
c.26258A>T (p.Lys8753Ile)
c.26252A>T (p.Lys8751Ile)
c.26240A>T (p.Lys8747Ile)
c.26237A>T (p.Lys8746Ile)
c.26198A>T (p.Lys8733Ile)
c.26183A>T (p.Lys8728Ile)
c.26168A>T (p.Lys8723Ile)
c.26156A>T (p.Lys8719Ile)
c.26153A>T (p.Lys8718Ile)
c.26150A>T (p.Lys8717Ile)
c.26250A>T (p.Lys8750Asn)
c.26208A>T (p.Lys8736Asn)
c.26139A>T (p.Lys8713Asn)
c.26306A>T (p.Lys8769Ile)
c.26294A>T (p.Lys8765Ile)
c.26144A>T (p.Lys8715Ile)
c.24584A>T (p.Lys8195Ile)
c.24077A>T (p.Lys8026Ile)
c.19544A>T (p.Lys6515Ile)
c.2709A>T (p.Lys903Asn)
c.26282A>T (p.Lys8761Ile)
c.26231A>T (p.Lys8744Ile)
c.26195A>T (p.Lys8732Ile)
c.26042A>T (p.Lys8681Ile)
c.26181A>T (p.Lys8727Asn)
c.26136A>T (p.Lys8712Asn)
c.26124A>T (p.Lys8708Asn)
6g.152122668T>CCA366089264ESR1,SYNE1c.2696A>G (p.Lys899Arg)
c.26162A>G (p.Lys8721Arg)
c.26018A>G (p.Lys8673Arg)
c.1505A>G
c.1880A>G
c.1747A>G
c.2012A>G (n.2012A>G)
c.24947A>G (p.Lys8316Arg)
n.2910A>G
c.4938A>G (p.Lys1646=)
n.9854A>G
c.4041A>G (p.Lys1347=)
n.9746A>G
c.851-2598T>C (n.851-2598T>C)
n.2776A>G
n.6799A>G
n.2940A>G
c.2627A>G (p.Lys876Arg)
c.26309A>G (p.Lys8770Arg)
c.26297A>G (p.Lys8766Arg)
c.26288A>G (p.Lys8763Arg)
c.26267A>G (p.Lys8756Arg)
c.26258A>G (p.Lys8753Arg)
c.26252A>G (p.Lys8751Arg)
c.26240A>G (p.Lys8747Arg)
c.26237A>G (p.Lys8746Arg)
c.26198A>G (p.Lys8733Arg)
c.26183A>G (p.Lys8728Arg)
c.26168A>G (p.Lys8723Arg)
c.26156A>G (p.Lys8719Arg)
c.26153A>G (p.Lys8718Arg)
c.26150A>G (p.Lys8717Arg)
c.26250A>G (p.Lys8750=)
c.26208A>G (p.Lys8736=)
c.26139A>G (p.Lys8713=)
c.26306A>G (p.Lys8769Arg)
c.26294A>G (p.Lys8765Arg)
c.26144A>G (p.Lys8715Arg)
c.24584A>G (p.Lys8195Arg)
c.24077A>G (p.Lys8026Arg)
c.19544A>G (p.Lys6515Arg)
c.2709A>G (p.Lys903=)
c.26282A>G (p.Lys8761Arg)
c.26231A>G (p.Lys8744Arg)
c.26195A>G (p.Lys8732Arg)
c.26042A>G (p.Lys8681Arg)
c.26181A>G (p.Lys8727=)
c.26136A>G (p.Lys8712=)
c.26124A>G (p.Lys8708=)
 dbSNP gnomAD v2 gnomAD v4
6g.152122668T>GCA366089265ESR1,SYNE1c.2696A>C (p.Lys899Thr)
c.26162A>C (p.Lys8721Thr)
c.26018A>C (p.Lys8673Thr)
c.1505A>C
c.1880A>C
c.1747A>C
c.2012A>C (n.2012A>C)
c.24947A>C (p.Lys8316Thr)
n.2910A>C
c.4938A>C (p.Lys1646Asn)
n.9854A>C
c.4041A>C (p.Lys1347Asn)
n.9746A>C
c.851-2598T>G (n.851-2598T>G)
n.2776A>C
n.6799A>C
n.2940A>C
c.2627A>C (p.Lys876Thr)
c.26309A>C (p.Lys8770Thr)
c.26297A>C (p.Lys8766Thr)
c.26288A>C (p.Lys8763Thr)
c.26267A>C (p.Lys8756Thr)
c.26258A>C (p.Lys8753Thr)
c.26252A>C (p.Lys8751Thr)
c.26240A>C (p.Lys8747Thr)
c.26237A>C (p.Lys8746Thr)
c.26198A>C (p.Lys8733Thr)
c.26183A>C (p.Lys8728Thr)
c.26168A>C (p.Lys8723Thr)
c.26156A>C (p.Lys8719Thr)
c.26153A>C (p.Lys8718Thr)
c.26150A>C (p.Lys8717Thr)
c.26250A>C (p.Lys8750Asn)
c.26208A>C (p.Lys8736Asn)
c.26139A>C (p.Lys8713Asn)
c.26306A>C (p.Lys8769Thr)
c.26294A>C (p.Lys8765Thr)
c.26144A>C (p.Lys8715Thr)
c.24584A>C (p.Lys8195Thr)
c.24077A>C (p.Lys8026Thr)
c.19544A>C (p.Lys6515Thr)
c.2709A>C (p.Lys903Asn)
c.26282A>C (p.Lys8761Thr)
c.26231A>C (p.Lys8744Thr)
c.26195A>C (p.Lys8732Thr)
c.26042A>C (p.Lys8681Thr)
c.26181A>C (p.Lys8727Asn)
c.26136A>C (p.Lys8712Asn)
c.26124A>C (p.Lys8708Asn)
6g.152122668T=CA1673189312ESR1,SYNE1c.2696A= (p.Lys899=)
c.26162A= (p.Lys8721=)
c.26018A= (p.Lys8673=)
c.1505A=
c.1880A=
c.1747A=
c.2012A= (n.2012A=)
c.24947A= (p.Lys8316=)
n.2910A=
c.4938A= (p.Lys1646=)
n.9854A=
c.4041A= (p.Lys1347=)
n.9746A=
c.851-2598T= (n.851-2598T=)
n.2776A=
n.6799A=
n.2940A=
c.2627A= (p.Lys876=)
c.26309A= (p.Lys8770=)
c.26297A= (p.Lys8766=)
c.26288A= (p.Lys8763=)
c.26267A= (p.Lys8756=)
c.26258A= (p.Lys8753=)
c.26252A= (p.Lys8751=)
c.26240A= (p.Lys8747=)
c.26237A= (p.Lys8746=)
c.26198A= (p.Lys8733=)
c.26183A= (p.Lys8728=)
c.26168A= (p.Lys8723=)
c.26156A= (p.Lys8719=)
c.26153A= (p.Lys8718=)
c.26150A= (p.Lys8717=)
c.26250A= (p.Lys8750=)
c.26208A= (p.Lys8736=)
c.26139A= (p.Lys8713=)
c.26306A= (p.Lys8769=)
c.26294A= (p.Lys8765=)
c.26144A= (p.Lys8715=)
c.24584A= (p.Lys8195=)
c.24077A= (p.Lys8026=)
c.19544A= (p.Lys6515=)
c.2709A= (p.Lys903=)
c.26282A= (p.Lys8761=)
c.26231A= (p.Lys8744=)
c.26195A= (p.Lys8732=)
c.26042A= (p.Lys8681=)
c.26181A= (p.Lys8727=)
c.26136A= (p.Lys8712=)
c.26124A= (p.Lys8708=)
6g.152122669T>ACA366089266ESR1,SYNE1c.2695A>T (p.Lys899Ter)
c.26161A>T (p.Lys8721Ter)
c.26017A>T (p.Lys8673Ter)
c.1504A>T
c.1879A>T
c.1746A>T
c.2011A>T (n.2011A>T)
c.24946A>T (p.Lys8316Ter)
n.2909A>T
c.4937A>T (p.Lys1646Ile)
n.9853A>T
c.4040A>T (p.Lys1347Ile)
n.9745A>T
c.851-2597T>A (n.851-2597T>A)
n.2775A>T
n.6798A>T
n.2939A>T
c.2626A>T (p.Lys876Ter)
c.26308A>T (p.Lys8770Ter)
c.26296A>T (p.Lys8766Ter)
c.26287A>T (p.Lys8763Ter)
c.26266A>T (p.Lys8756Ter)
c.26257A>T (p.Lys8753Ter)
c.26251A>T (p.Lys8751Ter)
c.26239A>T (p.Lys8747Ter)
c.26236A>T (p.Lys8746Ter)
c.26197A>T (p.Lys8733Ter)
c.26182A>T (p.Lys8728Ter)
c.26167A>T (p.Lys8723Ter)
c.26155A>T (p.Lys8719Ter)
c.26152A>T (p.Lys8718Ter)
c.26149A>T (p.Lys8717Ter)
c.26249A>T (p.Lys8750Ile)
c.26207A>T (p.Lys8736Ile)
c.26138A>T (p.Lys8713Ile)
c.26305A>T (p.Lys8769Ter)
c.26293A>T (p.Lys8765Ter)
c.26143A>T (p.Lys8715Ter)
c.24583A>T (p.Lys8195Ter)
c.24076A>T (p.Lys8026Ter)
c.19543A>T (p.Lys6515Ter)
c.2708A>T (p.Lys903Ile)
c.26281A>T (p.Lys8761Ter)
c.26230A>T (p.Lys8744Ter)
c.26194A>T (p.Lys8732Ter)
c.26041A>T (p.Lys8681Ter)
c.26180A>T (p.Lys8727Ile)
c.26135A>T (p.Lys8712Ile)
c.26123A>T (p.Lys8708Ile)
6g.152122669T>CCA366089267ESR1,SYNE1c.2695A>G (p.Lys899Glu)
c.26161A>G (p.Lys8721Glu)
c.26017A>G (p.Lys8673Glu)
c.1504A>G
c.1879A>G
c.1746A>G
c.2011A>G (n.2011A>G)
c.24946A>G (p.Lys8316Glu)
n.2909A>G
c.4937A>G (p.Lys1646Arg)
n.9853A>G
c.4040A>G (p.Lys1347Arg)
n.9745A>G
c.851-2597T>C (n.851-2597T>C)
n.2775A>G
n.6798A>G
n.2939A>G
c.2626A>G (p.Lys876Glu)
c.26308A>G (p.Lys8770Glu)
c.26296A>G (p.Lys8766Glu)
c.26287A>G (p.Lys8763Glu)
c.26266A>G (p.Lys8756Glu)
c.26257A>G (p.Lys8753Glu)
c.26251A>G (p.Lys8751Glu)
c.26239A>G (p.Lys8747Glu)
c.26236A>G (p.Lys8746Glu)
c.26197A>G (p.Lys8733Glu)
c.26182A>G (p.Lys8728Glu)
c.26167A>G (p.Lys8723Glu)
c.26155A>G (p.Lys8719Glu)
c.26152A>G (p.Lys8718Glu)
c.26149A>G (p.Lys8717Glu)
c.26249A>G (p.Lys8750Arg)
c.26207A>G (p.Lys8736Arg)
c.26138A>G (p.Lys8713Arg)
c.26305A>G (p.Lys8769Glu)
c.26293A>G (p.Lys8765Glu)
c.26143A>G (p.Lys8715Glu)
c.24583A>G (p.Lys8195Glu)
c.24076A>G (p.Lys8026Glu)
c.19543A>G (p.Lys6515Glu)
c.2708A>G (p.Lys903Arg)
c.26281A>G (p.Lys8761Glu)
c.26230A>G (p.Lys8744Glu)
c.26194A>G (p.Lys8732Glu)
c.26041A>G (p.Lys8681Glu)
c.26180A>G (p.Lys8727Arg)
c.26135A>G (p.Lys8712Arg)
c.26123A>G (p.Lys8708Arg)
6g.152122669T>GCA366089268ESR1,SYNE1c.2695A>C (p.Lys899Gln)
c.26161A>C (p.Lys8721Gln)
c.26017A>C (p.Lys8673Gln)
c.1504A>C
c.1879A>C
c.1746A>C
c.2011A>C (n.2011A>C)
c.24946A>C (p.Lys8316Gln)
n.2909A>C
c.4937A>C (p.Lys1646Thr)
n.9853A>C
c.4040A>C (p.Lys1347Thr)
n.9745A>C
c.851-2597T>G (n.851-2597T>G)
n.2775A>C
n.6798A>C
n.2939A>C
c.2626A>C (p.Lys876Gln)
c.26308A>C (p.Lys8770Gln)
c.26296A>C (p.Lys8766Gln)
c.26287A>C (p.Lys8763Gln)
c.26266A>C (p.Lys8756Gln)
c.26257A>C (p.Lys8753Gln)
c.26251A>C (p.Lys8751Gln)
c.26239A>C (p.Lys8747Gln)
c.26236A>C (p.Lys8746Gln)
c.26197A>C (p.Lys8733Gln)
c.26182A>C (p.Lys8728Gln)
c.26167A>C (p.Lys8723Gln)
c.26155A>C (p.Lys8719Gln)
c.26152A>C (p.Lys8718Gln)
c.26149A>C (p.Lys8717Gln)
c.26249A>C (p.Lys8750Thr)
c.26207A>C (p.Lys8736Thr)
c.26138A>C (p.Lys8713Thr)
c.26305A>C (p.Lys8769Gln)
c.26293A>C (p.Lys8765Gln)
c.26143A>C (p.Lys8715Gln)
c.24583A>C (p.Lys8195Gln)
c.24076A>C (p.Lys8026Gln)
c.19543A>C (p.Lys6515Gln)
c.2708A>C (p.Lys903Thr)
c.26281A>C (p.Lys8761Gln)
c.26230A>C (p.Lys8744Gln)
c.26194A>C (p.Lys8732Gln)
c.26041A>C (p.Lys8681Gln)
c.26180A>C (p.Lys8727Thr)
c.26135A>C (p.Lys8712Thr)
c.26123A>C (p.Lys8708Thr)
6g.152122670T>ACA366089269ESR1,SYNE1c.2694A>T (p.Thr898=)
c.26160A>T (p.Thr8720=)
c.26016A>T (p.Thr8672=)
c.1503A>T
c.1878A>T
c.1745A>T
c.2010A>T (n.2010A>T)
c.24945A>T (p.Thr8315=)
n.2908A>T
c.4936A>T (p.Lys1646Ter)
n.9852A>T
c.4039A>T (p.Lys1347Ter)
n.9744A>T
c.851-2596T>A (n.851-2596T>A)
n.2774A>T
n.6797A>T
n.2938A>T
c.2625A>T (p.Thr875=)
c.26307A>T (p.Thr8769=)
c.26295A>T (p.Thr8765=)
c.26286A>T (p.Thr8762=)
c.26265A>T (p.Thr8755=)
c.26256A>T (p.Thr8752=)
c.26250A>T (p.Thr8750=)
c.26238A>T (p.Thr8746=)
c.26235A>T (p.Thr8745=)
c.26196A>T (p.Thr8732=)
c.26181A>T (p.Thr8727=)
c.26166A>T (p.Thr8722=)
c.26154A>T (p.Thr8718=)
c.26151A>T (p.Thr8717=)
c.26148A>T (p.Thr8716=)
c.26248A>T (p.Lys8750Ter)
c.26206A>T (p.Lys8736Ter)
c.26137A>T (p.Lys8713Ter)
c.26304A>T (p.Thr8768=)
c.26292A>T (p.Thr8764=)
c.26142A>T (p.Thr8714=)
c.24582A>T (p.Thr8194=)
c.24075A>T (p.Thr8025=)
c.19542A>T (p.Thr6514=)
c.2707A>T (p.Lys903Ter)
c.26280A>T (p.Thr8760=)
c.26229A>T (p.Thr8743=)
c.26193A>T (p.Thr8731=)
c.26040A>T (p.Thr8680=)
c.26179A>T (p.Lys8727Ter)
c.26134A>T (p.Lys8712Ter)
c.26122A>T (p.Lys8708Ter)
 gnomAD v4
6g.152122670T>CCA366089270ESR1,SYNE1c.2694A>G (p.Thr898=)
c.26160A>G (p.Thr8720=)
c.26016A>G (p.Thr8672=)
c.1503A>G
c.1878A>G
c.1745A>G
c.2010A>G (n.2010A>G)
c.24945A>G (p.Thr8315=)
n.2908A>G
c.4936A>G (p.Lys1646Glu)
n.9852A>G
c.4039A>G (p.Lys1347Glu)
n.9744A>G
c.851-2596T>C (n.851-2596T>C)
n.2774A>G
n.6797A>G
n.2938A>G
c.2625A>G (p.Thr875=)
c.26307A>G (p.Thr8769=)
c.26295A>G (p.Thr8765=)
c.26286A>G (p.Thr8762=)
c.26265A>G (p.Thr8755=)
c.26256A>G (p.Thr8752=)
c.26250A>G (p.Thr8750=)
c.26238A>G (p.Thr8746=)
c.26235A>G (p.Thr8745=)
c.26196A>G (p.Thr8732=)
c.26181A>G (p.Thr8727=)
c.26166A>G (p.Thr8722=)
c.26154A>G (p.Thr8718=)
c.26151A>G (p.Thr8717=)
c.26148A>G (p.Thr8716=)
c.26248A>G (p.Lys8750Glu)
c.26206A>G (p.Lys8736Glu)
c.26137A>G (p.Lys8713Glu)
c.26304A>G (p.Thr8768=)
c.26292A>G (p.Thr8764=)
c.26142A>G (p.Thr8714=)
c.24582A>G (p.Thr8194=)
c.24075A>G (p.Thr8025=)
c.19542A>G (p.Thr6514=)
c.2707A>G (p.Lys903Glu)
c.26280A>G (p.Thr8760=)
c.26229A>G (p.Thr8743=)
c.26193A>G (p.Thr8731=)
c.26040A>G (p.Thr8680=)
c.26179A>G (p.Lys8727Glu)
c.26134A>G (p.Lys8712Glu)
c.26122A>G (p.Lys8708Glu)
 dbSNP gnomAD v4
6g.152122670T>GCA366089271ESR1,SYNE1c.2694A>C (p.Thr898=)
c.26160A>C (p.Thr8720=)
c.26016A>C (p.Thr8672=)
c.1503A>C
c.1878A>C
c.1745A>C
c.2010A>C (n.2010A>C)
c.24945A>C (p.Thr8315=)
n.2908A>C
c.4936A>C (p.Lys1646Gln)
n.9852A>C
c.4039A>C (p.Lys1347Gln)
n.9744A>C
c.851-2596T>G (n.851-2596T>G)
n.2774A>C
n.6797A>C
n.2938A>C
c.2625A>C (p.Thr875=)
c.26307A>C (p.Thr8769=)
c.26295A>C (p.Thr8765=)
c.26286A>C (p.Thr8762=)
c.26265A>C (p.Thr8755=)
c.26256A>C (p.Thr8752=)
c.26250A>C (p.Thr8750=)
c.26238A>C (p.Thr8746=)
c.26235A>C (p.Thr8745=)
c.26196A>C (p.Thr8732=)
c.26181A>C (p.Thr8727=)
c.26166A>C (p.Thr8722=)
c.26154A>C (p.Thr8718=)
c.26151A>C (p.Thr8717=)
c.26148A>C (p.Thr8716=)
c.26248A>C (p.Lys8750Gln)
c.26206A>C (p.Lys8736Gln)
c.26137A>C (p.Lys8713Gln)
c.26304A>C (p.Thr8768=)
c.26292A>C (p.Thr8764=)
c.26142A>C (p.Thr8714=)
c.24582A>C (p.Thr8194=)
c.24075A>C (p.Thr8025=)
c.19542A>C (p.Thr6514=)
c.2707A>C (p.Lys903Gln)
c.26280A>C (p.Thr8760=)
c.26229A>C (p.Thr8743=)
c.26193A>C (p.Thr8731=)
c.26040A>C (p.Thr8680=)
c.26179A>C (p.Lys8727Gln)
c.26134A>C (p.Lys8712Gln)
c.26122A>C (p.Lys8708Gln)
6g.152122670T=CA1673189316ESR1,SYNE1c.2694A= (p.Thr898=)
c.26160A= (p.Thr8720=)
c.26016A= (p.Thr8672=)
c.1503A=
c.1878A=
c.1745A=
c.2010A= (n.2010A=)
c.24945A= (p.Thr8315=)
n.2908A=
c.4936A= (p.Lys1646=)
n.9852A=
c.4039A= (p.Lys1347=)
n.9744A=
c.851-2596T= (n.851-2596T=)
n.2774A=
n.6797A=
n.2938A=
c.2625A= (p.Thr875=)
c.26307A= (p.Thr8769=)
c.26295A= (p.Thr8765=)
c.26286A= (p.Thr8762=)
c.26265A= (p.Thr8755=)
c.26256A= (p.Thr8752=)
c.26250A= (p.Thr8750=)
c.26238A= (p.Thr8746=)
c.26235A= (p.Thr8745=)
c.26196A= (p.Thr8732=)
c.26181A= (p.Thr8727=)
c.26166A= (p.Thr8722=)
c.26154A= (p.Thr8718=)
c.26151A= (p.Thr8717=)
c.26148A= (p.Thr8716=)
c.26248A= (p.Lys8750=)
c.26206A= (p.Lys8736=)
c.26137A= (p.Lys8713=)
c.26304A= (p.Thr8768=)
c.26292A= (p.Thr8764=)
c.26142A= (p.Thr8714=)
c.24582A= (p.Thr8194=)
c.24075A= (p.Thr8025=)
c.19542A= (p.Thr6514=)
c.2707A= (p.Lys903=)
c.26280A= (p.Thr8760=)
c.26229A= (p.Thr8743=)
c.26193A= (p.Thr8731=)
c.26040A= (p.Thr8680=)
c.26179A= (p.Lys8727=)
c.26134A= (p.Lys8712=)
c.26122A= (p.Lys8708=)
6g.152122671G>ACA366089272ESR1,SYNE1c.2693C>T (p.Thr898Ile)
c.26159C>T (p.Thr8720Ile)
c.26015C>T (p.Thr8672Ile)
c.1502C>T
c.1877C>T
c.1744C>T
c.2009C>T (n.2009C>T)
c.24944C>T (p.Thr8315Ile)
n.2907C>T
c.4935C>T (p.His1645=)
n.9851C>T
c.4038C>T (p.His1346=)
n.9743C>T
c.851-2595G>A (n.851-2595G>A)
n.2773C>T
n.6796C>T
n.2937C>T
c.2624C>T (p.Thr875Ile)
c.26306C>T (p.Thr8769Ile)
c.26294C>T (p.Thr8765Ile)
c.26285C>T (p.Thr8762Ile)
c.26264C>T (p.Thr8755Ile)
c.26255C>T (p.Thr8752Ile)
c.26249C>T (p.Thr8750Ile)
c.26237C>T (p.Thr8746Ile)
c.26234C>T (p.Thr8745Ile)
c.26195C>T (p.Thr8732Ile)
c.26180C>T (p.Thr8727Ile)
c.26165C>T (p.Thr8722Ile)
c.26153C>T (p.Thr8718Ile)
c.26150C>T (p.Thr8717Ile)
c.26147C>T (p.Thr8716Ile)
c.26247C>T (p.His8749=)
c.26205C>T (p.His8735=)
c.26136C>T (p.His8712=)
c.26303C>T (p.Thr8768Ile)
c.26291C>T (p.Thr8764Ile)
c.26141C>T (p.Thr8714Ile)
c.24581C>T (p.Thr8194Ile)
c.24074C>T (p.Thr8025Ile)
c.19541C>T (p.Thr6514Ile)
c.2706C>T (p.His902=)
c.26279C>T (p.Thr8760Ile)
c.26228C>T (p.Thr8743Ile)
c.26192C>T (p.Thr8731Ile)
c.26039C>T (p.Thr8680Ile)
c.26178C>T (p.His8726=)
c.26133C>T (p.His8711=)
c.26121C>T (p.His8707=)
6g.152122671G>CCA366089273ESR1,SYNE1c.2693C>G (p.Thr898Arg)
c.26159C>G (p.Thr8720Arg)
c.26015C>G (p.Thr8672Arg)
c.1502C>G
c.1877C>G
c.1744C>G
c.2009C>G (n.2009C>G)
c.24944C>G (p.Thr8315Arg)
n.2907C>G
c.4935C>G (p.His1645Gln)
n.9851C>G
c.4038C>G (p.His1346Gln)
n.9743C>G
c.851-2595G>C (n.851-2595G>C)
n.2773C>G
n.6796C>G
n.2937C>G
c.2624C>G (p.Thr875Arg)
c.26306C>G (p.Thr8769Arg)
c.26294C>G (p.Thr8765Arg)
c.26285C>G (p.Thr8762Arg)
c.26264C>G (p.Thr8755Arg)
c.26255C>G (p.Thr8752Arg)
c.26249C>G (p.Thr8750Arg)
c.26237C>G (p.Thr8746Arg)
c.26234C>G (p.Thr8745Arg)
c.26195C>G (p.Thr8732Arg)
c.26180C>G (p.Thr8727Arg)
c.26165C>G (p.Thr8722Arg)
c.26153C>G (p.Thr8718Arg)
c.26150C>G (p.Thr8717Arg)
c.26147C>G (p.Thr8716Arg)
c.26247C>G (p.His8749Gln)
c.26205C>G (p.His8735Gln)
c.26136C>G (p.His8712Gln)
c.26303C>G (p.Thr8768Arg)
c.26291C>G (p.Thr8764Arg)
c.26141C>G (p.Thr8714Arg)
c.24581C>G (p.Thr8194Arg)
c.24074C>G (p.Thr8025Arg)
c.19541C>G (p.Thr6514Arg)
c.2706C>G (p.His902Gln)
c.26279C>G (p.Thr8760Arg)
c.26228C>G (p.Thr8743Arg)
c.26192C>G (p.Thr8731Arg)
c.26039C>G (p.Thr8680Arg)
c.26178C>G (p.His8726Gln)
c.26133C>G (p.His8711Gln)
c.26121C>G (p.His8707Gln)
6g.152122671G>TCA366089274ESR1,SYNE1c.2693C>A (p.Thr898Lys)
c.26159C>A (p.Thr8720Lys)
c.26015C>A (p.Thr8672Lys)
c.1502C>A
c.1877C>A
c.1744C>A
c.2009C>A (n.2009C>A)
c.24944C>A (p.Thr8315Lys)
n.2907C>A
c.4935C>A (p.His1645Gln)
n.9851C>A
c.4038C>A (p.His1346Gln)
n.9743C>A
c.851-2595G>T (n.851-2595G>T)
n.2773C>A
n.6796C>A
n.2937C>A
c.2624C>A (p.Thr875Lys)
c.26306C>A (p.Thr8769Lys)
c.26294C>A (p.Thr8765Lys)
c.26285C>A (p.Thr8762Lys)
c.26264C>A (p.Thr8755Lys)
c.26255C>A (p.Thr8752Lys)
c.26249C>A (p.Thr8750Lys)
c.26237C>A (p.Thr8746Lys)
c.26234C>A (p.Thr8745Lys)
c.26195C>A (p.Thr8732Lys)
c.26180C>A (p.Thr8727Lys)
c.26165C>A (p.Thr8722Lys)
c.26153C>A (p.Thr8718Lys)
c.26150C>A (p.Thr8717Lys)
c.26147C>A (p.Thr8716Lys)
c.26247C>A (p.His8749Gln)
c.26205C>A (p.His8735Gln)
c.26136C>A (p.His8712Gln)
c.26303C>A (p.Thr8768Lys)
c.26291C>A (p.Thr8764Lys)
c.26141C>A (p.Thr8714Lys)
c.24581C>A (p.Thr8194Lys)
c.24074C>A (p.Thr8025Lys)
c.19541C>A (p.Thr6514Lys)
c.2706C>A (p.His902Gln)
c.26279C>A (p.Thr8760Lys)
c.26228C>A (p.Thr8743Lys)
c.26192C>A (p.Thr8731Lys)
c.26039C>A (p.Thr8680Lys)
c.26178C>A (p.His8726Gln)
c.26133C>A (p.His8711Gln)
c.26121C>A (p.His8707Gln)
6g.152122672T>ACA4052617ESR1,SYNE1c.2692A>T (p.Thr898Ser)
c.26158A>T (p.Thr8720Ser)
c.26014A>T (p.Thr8672Ser)
c.1501A>T
c.1876A>T
c.1743A>T
c.2008A>T (n.2008A>T)
c.24943A>T (p.Thr8315Ser)
n.2906A>T
c.4934A>T (p.His1645Leu)
n.9850A>T
c.4037A>T (p.His1346Leu)
n.9742A>T
c.851-2594T>A (n.851-2594T>A)
n.2772A>T
n.6795A>T
n.2936A>T
c.2623A>T (p.Thr875Ser)
c.26305A>T (p.Thr8769Ser)
c.26293A>T (p.Thr8765Ser)
c.26284A>T (p.Thr8762Ser)
c.26263A>T (p.Thr8755Ser)
c.26254A>T (p.Thr8752Ser)
c.26248A>T (p.Thr8750Ser)
c.26236A>T (p.Thr8746Ser)
c.26233A>T (p.Thr8745Ser)
c.26194A>T (p.Thr8732Ser)
c.26179A>T (p.Thr8727Ser)
c.26164A>T (p.Thr8722Ser)
c.26152A>T (p.Thr8718Ser)
c.26149A>T (p.Thr8717Ser)
c.26146A>T (p.Thr8716Ser)
c.26246A>T (p.His8749Leu)
c.26204A>T (p.His8735Leu)
c.26135A>T (p.His8712Leu)
c.26302A>T (p.Thr8768Ser)
c.26290A>T (p.Thr8764Ser)
c.26140A>T (p.Thr8714Ser)
c.24580A>T (p.Thr8194Ser)
c.24073A>T (p.Thr8025Ser)
c.19540A>T (p.Thr6514Ser)
c.2705A>T (p.His902Leu)
c.26278A>T (p.Thr8760Ser)
c.26227A>T (p.Thr8743Ser)
c.26191A>T (p.Thr8731Ser)
c.26038A>T (p.Thr8680Ser)
c.26177A>T (p.His8726Leu)
c.26132A>T (p.His8711Leu)
c.26120A>T (p.His8707Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122672T>CCA366089276ESR1,SYNE1c.2692A>G (p.Thr898Ala)
c.26158A>G (p.Thr8720Ala)
c.26014A>G (p.Thr8672Ala)
c.1501A>G
c.1876A>G
c.1743A>G
c.2008A>G (n.2008A>G)
c.24943A>G (p.Thr8315Ala)
n.2906A>G
c.4934A>G (p.His1645Arg)
n.9850A>G
c.4037A>G (p.His1346Arg)
n.9742A>G
c.851-2594T>C (n.851-2594T>C)
n.2772A>G
n.6795A>G
n.2936A>G
c.2623A>G (p.Thr875Ala)
c.26305A>G (p.Thr8769Ala)
c.26293A>G (p.Thr8765Ala)
c.26284A>G (p.Thr8762Ala)
c.26263A>G (p.Thr8755Ala)
c.26254A>G (p.Thr8752Ala)
c.26248A>G (p.Thr8750Ala)
c.26236A>G (p.Thr8746Ala)
c.26233A>G (p.Thr8745Ala)
c.26194A>G (p.Thr8732Ala)
c.26179A>G (p.Thr8727Ala)
c.26164A>G (p.Thr8722Ala)
c.26152A>G (p.Thr8718Ala)
c.26149A>G (p.Thr8717Ala)
c.26146A>G (p.Thr8716Ala)
c.26246A>G (p.His8749Arg)
c.26204A>G (p.His8735Arg)
c.26135A>G (p.His8712Arg)
c.26302A>G (p.Thr8768Ala)
c.26290A>G (p.Thr8764Ala)
c.26140A>G (p.Thr8714Ala)
c.24580A>G (p.Thr8194Ala)
c.24073A>G (p.Thr8025Ala)
c.19540A>G (p.Thr6514Ala)
c.2705A>G (p.His902Arg)
c.26278A>G (p.Thr8760Ala)
c.26227A>G (p.Thr8743Ala)
c.26191A>G (p.Thr8731Ala)
c.26038A>G (p.Thr8680Ala)
c.26177A>G (p.His8726Arg)
c.26132A>G (p.His8711Arg)
c.26120A>G (p.His8707Arg)
6g.152122672T>GCA366089275ESR1,SYNE1c.2692A>C (p.Thr898Pro)
c.26158A>C (p.Thr8720Pro)
c.26014A>C (p.Thr8672Pro)
c.1501A>C
c.1876A>C
c.1743A>C
c.2008A>C (n.2008A>C)
c.24943A>C (p.Thr8315Pro)
n.2906A>C
c.4934A>C (p.His1645Pro)
n.9850A>C
c.4037A>C (p.His1346Pro)
n.9742A>C
c.851-2594T>G (n.851-2594T>G)
n.2772A>C
n.6795A>C
n.2936A>C
c.2623A>C (p.Thr875Pro)
c.26305A>C (p.Thr8769Pro)
c.26293A>C (p.Thr8765Pro)
c.26284A>C (p.Thr8762Pro)
c.26263A>C (p.Thr8755Pro)
c.26254A>C (p.Thr8752Pro)
c.26248A>C (p.Thr8750Pro)
c.26236A>C (p.Thr8746Pro)
c.26233A>C (p.Thr8745Pro)
c.26194A>C (p.Thr8732Pro)
c.26179A>C (p.Thr8727Pro)
c.26164A>C (p.Thr8722Pro)
c.26152A>C (p.Thr8718Pro)
c.26149A>C (p.Thr8717Pro)
c.26146A>C (p.Thr8716Pro)
c.26246A>C (p.His8749Pro)
c.26204A>C (p.His8735Pro)
c.26135A>C (p.His8712Pro)
c.26302A>C (p.Thr8768Pro)
c.26290A>C (p.Thr8764Pro)
c.26140A>C (p.Thr8714Pro)
c.24580A>C (p.Thr8194Pro)
c.24073A>C (p.Thr8025Pro)
c.19540A>C (p.Thr6514Pro)
c.2705A>C (p.His902Pro)
c.26278A>C (p.Thr8760Pro)
c.26227A>C (p.Thr8743Pro)
c.26191A>C (p.Thr8731Pro)
c.26038A>C (p.Thr8680Pro)
c.26177A>C (p.His8726Pro)
c.26132A>C (p.His8711Pro)
c.26120A>C (p.His8707Pro)
6g.152122672T=CA1673189320ESR1,SYNE1c.2692A= (p.Thr898=)
c.26158A= (p.Thr8720=)
c.26014A= (p.Thr8672=)
c.1501A=
c.1876A=
c.1743A=
c.2008A= (n.2008A=)
c.24943A= (p.Thr8315=)
n.2906A=
c.4934A= (p.His1645=)
n.9850A=
c.4037A= (p.His1346=)
n.9742A=
c.851-2594T= (n.851-2594T=)
n.2772A=
n.6795A=
n.2936A=
c.2623A= (p.Thr875=)
c.26305A= (p.Thr8769=)
c.26293A= (p.Thr8765=)
c.26284A= (p.Thr8762=)
c.26263A= (p.Thr8755=)
c.26254A= (p.Thr8752=)
c.26248A= (p.Thr8750=)
c.26236A= (p.Thr8746=)
c.26233A= (p.Thr8745=)
c.26194A= (p.Thr8732=)
c.26179A= (p.Thr8727=)
c.26164A= (p.Thr8722=)
c.26152A= (p.Thr8718=)
c.26149A= (p.Thr8717=)
c.26146A= (p.Thr8716=)
c.26246A= (p.His8749=)
c.26204A= (p.His8735=)
c.26135A= (p.His8712=)
c.26302A= (p.Thr8768=)
c.26290A= (p.Thr8764=)
c.26140A= (p.Thr8714=)
c.24580A= (p.Thr8194=)
c.24073A= (p.Thr8025=)
c.19540A= (p.Thr6514=)
c.2705A= (p.His902=)
c.26278A= (p.Thr8760=)
c.26227A= (p.Thr8743=)
c.26191A= (p.Thr8731=)
c.26038A= (p.Thr8680=)
c.26177A= (p.His8726=)
c.26132A= (p.His8711=)
c.26120A= (p.His8707=)
6g.152122673G>ACA366089277ESR1,SYNE1c.2691C>T (p.Ser897=)
c.26157C>T (p.Ser8719=)
c.26013C>T (p.Ser8671=)
c.1500C>T
c.1875C>T
c.1742C>T
c.2007C>T (n.2007C>T)
c.24942C>T (p.Ser8314=)
n.2905C>T
c.4933C>T (p.His1645Tyr)
n.9849C>T
c.4036C>T (p.His1346Tyr)
n.9741C>T
c.851-2593G>A (n.851-2593G>A)
n.2771C>T
n.6794C>T
n.2935C>T
c.2622C>T (p.Ser874=)
c.26304C>T (p.Ser8768=)
c.26292C>T (p.Ser8764=)
c.26283C>T (p.Ser8761=)
c.26262C>T (p.Ser8754=)
c.26253C>T (p.Ser8751=)
c.26247C>T (p.Ser8749=)
c.26235C>T (p.Ser8745=)
c.26232C>T (p.Ser8744=)
c.26193C>T (p.Ser8731=)
c.26178C>T (p.Ser8726=)
c.26163C>T (p.Ser8721=)
c.26151C>T (p.Ser8717=)
c.26148C>T (p.Ser8716=)
c.26145C>T (p.Ser8715=)
c.26245C>T (p.His8749Tyr)
c.26203C>T (p.His8735Tyr)
c.26134C>T (p.His8712Tyr)
c.26301C>T (p.Ser8767=)
c.26289C>T (p.Ser8763=)
c.26139C>T (p.Ser8713=)
c.24579C>T (p.Ser8193=)
c.24072C>T (p.Ser8024=)
c.19539C>T (p.Ser6513=)
c.2704C>T (p.His902Tyr)
c.26277C>T (p.Ser8759=)
c.26226C>T (p.Ser8742=)
c.26190C>T (p.Ser8730=)
c.26037C>T (p.Ser8679=)
c.26176C>T (p.His8726Tyr)
c.26131C>T (p.His8711Tyr)
c.26119C>T (p.His8707Tyr)
6g.152122673G>CCA366089278ESR1,SYNE1c.2691C>G (p.Ser897=)
c.26157C>G (p.Ser8719=)
c.26013C>G (p.Ser8671=)
c.1500C>G
c.1875C>G
c.1742C>G
c.2007C>G (n.2007C>G)
c.24942C>G (p.Ser8314=)
n.2905C>G
c.4933C>G (p.His1645Asp)
n.9849C>G
c.4036C>G (p.His1346Asp)
n.9741C>G
c.851-2593G>C (n.851-2593G>C)
n.2771C>G
n.6794C>G
n.2935C>G
c.2622C>G (p.Ser874=)
c.26304C>G (p.Ser8768=)
c.26292C>G (p.Ser8764=)
c.26283C>G (p.Ser8761=)
c.26262C>G (p.Ser8754=)
c.26253C>G (p.Ser8751=)
c.26247C>G (p.Ser8749=)
c.26235C>G (p.Ser8745=)
c.26232C>G (p.Ser8744=)
c.26193C>G (p.Ser8731=)
c.26178C>G (p.Ser8726=)
c.26163C>G (p.Ser8721=)
c.26151C>G (p.Ser8717=)
c.26148C>G (p.Ser8716=)
c.26145C>G (p.Ser8715=)
c.26245C>G (p.His8749Asp)
c.26203C>G (p.His8735Asp)
c.26134C>G (p.His8712Asp)
c.26301C>G (p.Ser8767=)
c.26289C>G (p.Ser8763=)
c.26139C>G (p.Ser8713=)
c.24579C>G (p.Ser8193=)
c.24072C>G (p.Ser8024=)
c.19539C>G (p.Ser6513=)
c.2704C>G (p.His902Asp)
c.26277C>G (p.Ser8759=)
c.26226C>G (p.Ser8742=)
c.26190C>G (p.Ser8730=)
c.26037C>G (p.Ser8679=)
c.26176C>G (p.His8726Asp)
c.26131C>G (p.His8711Asp)
c.26119C>G (p.His8707Asp)
6g.152122673G>TCA366089279ESR1,SYNE1c.2691C>A (p.Ser897=)
c.26157C>A (p.Ser8719=)
c.26013C>A (p.Ser8671=)
c.1500C>A
c.1875C>A
c.1742C>A
c.2007C>A (n.2007C>A)
c.24942C>A (p.Ser8314=)
n.2905C>A
c.4933C>A (p.His1645Asn)
n.9849C>A
c.4036C>A (p.His1346Asn)
n.9741C>A
c.851-2593G>T (n.851-2593G>T)
n.2771C>A
n.6794C>A
n.2935C>A
c.2622C>A (p.Ser874=)
c.26304C>A (p.Ser8768=)
c.26292C>A (p.Ser8764=)
c.26283C>A (p.Ser8761=)
c.26262C>A (p.Ser8754=)
c.26253C>A (p.Ser8751=)
c.26247C>A (p.Ser8749=)
c.26235C>A (p.Ser8745=)
c.26232C>A (p.Ser8744=)
c.26193C>A (p.Ser8731=)
c.26178C>A (p.Ser8726=)
c.26163C>A (p.Ser8721=)
c.26151C>A (p.Ser8717=)
c.26148C>A (p.Ser8716=)
c.26145C>A (p.Ser8715=)
c.26245C>A (p.His8749Asn)
c.26203C>A (p.His8735Asn)
c.26134C>A (p.His8712Asn)
c.26301C>A (p.Ser8767=)
c.26289C>A (p.Ser8763=)
c.26139C>A (p.Ser8713=)
c.24579C>A (p.Ser8193=)
c.24072C>A (p.Ser8024=)
c.19539C>A (p.Ser6513=)
c.2704C>A (p.His902Asn)
c.26277C>A (p.Ser8759=)
c.26226C>A (p.Ser8742=)
c.26190C>A (p.Ser8730=)
c.26037C>A (p.Ser8679=)
c.26176C>A (p.His8726Asn)
c.26131C>A (p.His8711Asn)
c.26119C>A (p.His8707Asn)
6g.152122674G>ACA366089280ESR1,SYNE1c.2690C>T (p.Ser897Phe)
c.26156C>T (p.Ser8719Phe)
c.26012C>T (p.Ser8671Phe)
c.1499C>T
c.1874C>T
c.1741C>T
c.2006C>T (n.2006C>T)
c.24941C>T (p.Ser8314Phe)
n.2904C>T
c.4932C>T (p.Val1644=)
n.9848C>T
c.4035C>T (p.Val1345=)
n.9740C>T
c.851-2592G>A (n.851-2592G>A)
n.2770C>T
n.6793C>T
n.2934C>T
c.2621C>T (p.Ser874Phe)
c.26303C>T (p.Ser8768Phe)
c.26291C>T (p.Ser8764Phe)
c.26282C>T (p.Ser8761Phe)
c.26261C>T (p.Ser8754Phe)
c.26252C>T (p.Ser8751Phe)
c.26246C>T (p.Ser8749Phe)
c.26234C>T (p.Ser8745Phe)
c.26231C>T (p.Ser8744Phe)
c.26192C>T (p.Ser8731Phe)
c.26177C>T (p.Ser8726Phe)
c.26162C>T (p.Ser8721Phe)
c.26150C>T (p.Ser8717Phe)
c.26147C>T (p.Ser8716Phe)
c.26144C>T (p.Ser8715Phe)
c.26244C>T (p.Val8748=)
c.26202C>T (p.Val8734=)
c.26133C>T (p.Val8711=)
c.26300C>T (p.Ser8767Phe)
c.26288C>T (p.Ser8763Phe)
c.26138C>T (p.Ser8713Phe)
c.24578C>T (p.Ser8193Phe)
c.24071C>T (p.Ser8024Phe)
c.19538C>T (p.Ser6513Phe)
c.2703C>T (p.Val901=)
c.26276C>T (p.Ser8759Phe)
c.26225C>T (p.Ser8742Phe)
c.26189C>T (p.Ser8730Phe)
c.26036C>T (p.Ser8679Phe)
c.26175C>T (p.Val8725=)
c.26130C>T (p.Val8710=)
c.26118C>T (p.Val8706=)
6g.152122674G>CCA366089281ESR1,SYNE1c.2690C>G (p.Ser897Cys)
c.26156C>G (p.Ser8719Cys)
c.26012C>G (p.Ser8671Cys)
c.1499C>G
c.1874C>G
c.1741C>G
c.2006C>G (n.2006C>G)
c.24941C>G (p.Ser8314Cys)
n.2904C>G
c.4932C>G (p.Val1644=)
n.9848C>G
c.4035C>G (p.Val1345=)
n.9740C>G
c.851-2592G>C (n.851-2592G>C)
n.2770C>G
n.6793C>G
n.2934C>G
c.2621C>G (p.Ser874Cys)
c.26303C>G (p.Ser8768Cys)
c.26291C>G (p.Ser8764Cys)
c.26282C>G (p.Ser8761Cys)
c.26261C>G (p.Ser8754Cys)
c.26252C>G (p.Ser8751Cys)
c.26246C>G (p.Ser8749Cys)
c.26234C>G (p.Ser8745Cys)
c.26231C>G (p.Ser8744Cys)
c.26192C>G (p.Ser8731Cys)
c.26177C>G (p.Ser8726Cys)
c.26162C>G (p.Ser8721Cys)
c.26150C>G (p.Ser8717Cys)
c.26147C>G (p.Ser8716Cys)
c.26144C>G (p.Ser8715Cys)
c.26244C>G (p.Val8748=)
c.26202C>G (p.Val8734=)
c.26133C>G (p.Val8711=)
c.26300C>G (p.Ser8767Cys)
c.26288C>G (p.Ser8763Cys)
c.26138C>G (p.Ser8713Cys)
c.24578C>G (p.Ser8193Cys)
c.24071C>G (p.Ser8024Cys)
c.19538C>G (p.Ser6513Cys)
c.2703C>G (p.Val901=)
c.26276C>G (p.Ser8759Cys)
c.26225C>G (p.Ser8742Cys)
c.26189C>G (p.Ser8730Cys)
c.26036C>G (p.Ser8679Cys)
c.26175C>G (p.Val8725=)
c.26130C>G (p.Val8710=)
c.26118C>G (p.Val8706=)
6g.152122674G>TCA366089282ESR1,SYNE1c.2690C>A (p.Ser897Tyr)
c.26156C>A (p.Ser8719Tyr)
c.26012C>A (p.Ser8671Tyr)
c.1499C>A
c.1874C>A
c.1741C>A
c.2006C>A (n.2006C>A)
c.24941C>A (p.Ser8314Tyr)
n.2904C>A
c.4932C>A (p.Val1644=)
n.9848C>A
c.4035C>A (p.Val1345=)
n.9740C>A
c.851-2592G>T (n.851-2592G>T)
n.2770C>A
n.6793C>A
n.2934C>A
c.2621C>A (p.Ser874Tyr)
c.26303C>A (p.Ser8768Tyr)
c.26291C>A (p.Ser8764Tyr)
c.26282C>A (p.Ser8761Tyr)
c.26261C>A (p.Ser8754Tyr)
c.26252C>A (p.Ser8751Tyr)
c.26246C>A (p.Ser8749Tyr)
c.26234C>A (p.Ser8745Tyr)
c.26231C>A (p.Ser8744Tyr)
c.26192C>A (p.Ser8731Tyr)
c.26177C>A (p.Ser8726Tyr)
c.26162C>A (p.Ser8721Tyr)
c.26150C>A (p.Ser8717Tyr)
c.26147C>A (p.Ser8716Tyr)
c.26144C>A (p.Ser8715Tyr)
c.26244C>A (p.Val8748=)
c.26202C>A (p.Val8734=)
c.26133C>A (p.Val8711=)
c.26300C>A (p.Ser8767Tyr)
c.26288C>A (p.Ser8763Tyr)
c.26138C>A (p.Ser8713Tyr)
c.24578C>A (p.Ser8193Tyr)
c.24071C>A (p.Ser8024Tyr)
c.19538C>A (p.Ser6513Tyr)
c.2703C>A (p.Val901=)
c.26276C>A (p.Ser8759Tyr)
c.26225C>A (p.Ser8742Tyr)
c.26189C>A (p.Ser8730Tyr)
c.26036C>A (p.Ser8679Tyr)
c.26175C>A (p.Val8725=)
c.26130C>A (p.Val8710=)
c.26118C>A (p.Val8706=)
6g.152122675A>CCA366089283ESR1,SYNE1c.2689T>G (p.Ser897Ala)
c.26155T>G (p.Ser8719Ala)
c.26011T>G (p.Ser8671Ala)
c.1498T>G
c.1873T>G
c.1740T>G
c.2005T>G (n.2005T>G)
c.24940T>G (p.Ser8314Ala)
n.2903T>G
c.4931T>G (p.Val1644Gly)
n.9847T>G
c.4034T>G (p.Val1345Gly)
n.9739T>G
c.851-2591A>C (n.851-2591A>C)
n.2769T>G
n.6792T>G
n.2933T>G
c.2620T>G (p.Ser874Ala)
c.26302T>G (p.Ser8768Ala)
c.26290T>G (p.Ser8764Ala)
c.26281T>G (p.Ser8761Ala)
c.26260T>G (p.Ser8754Ala)
c.26251T>G (p.Ser8751Ala)
c.26245T>G (p.Ser8749Ala)
c.26233T>G (p.Ser8745Ala)
c.26230T>G (p.Ser8744Ala)
c.26191T>G (p.Ser8731Ala)
c.26176T>G (p.Ser8726Ala)
c.26161T>G (p.Ser8721Ala)
c.26149T>G (p.Ser8717Ala)
c.26146T>G (p.Ser8716Ala)
c.26143T>G (p.Ser8715Ala)
c.26243T>G (p.Val8748Gly)
c.26201T>G (p.Val8734Gly)
c.26132T>G (p.Val8711Gly)
c.26299T>G (p.Ser8767Ala)
c.26287T>G (p.Ser8763Ala)
c.26137T>G (p.Ser8713Ala)
c.24577T>G (p.Ser8193Ala)
c.24070T>G (p.Ser8024Ala)
c.19537T>G (p.Ser6513Ala)
c.2702T>G (p.Val901Gly)
c.26275T>G (p.Ser8759Ala)
c.26224T>G (p.Ser8742Ala)
c.26188T>G (p.Ser8730Ala)
c.26035T>G (p.Ser8679Ala)
c.26174T>G (p.Val8725Gly)
c.26129T>G (p.Val8710Gly)
c.26117T>G (p.Val8706Gly)
6g.152122675A>GCA366089284ESR1,SYNE1c.2689T>C (p.Ser897Pro)
c.26155T>C (p.Ser8719Pro)
c.26011T>C (p.Ser8671Pro)
c.1498T>C
c.1873T>C
c.1740T>C
c.2005T>C (n.2005T>C)
c.24940T>C (p.Ser8314Pro)
n.2903T>C
c.4931T>C (p.Val1644Ala)
n.9847T>C
c.4034T>C (p.Val1345Ala)
n.9739T>C
c.851-2591A>G (n.851-2591A>G)
n.2769T>C
n.6792T>C
n.2933T>C
c.2620T>C (p.Ser874Pro)
c.26302T>C (p.Ser8768Pro)
c.26290T>C (p.Ser8764Pro)
c.26281T>C (p.Ser8761Pro)
c.26260T>C (p.Ser8754Pro)
c.26251T>C (p.Ser8751Pro)
c.26245T>C (p.Ser8749Pro)
c.26233T>C (p.Ser8745Pro)
c.26230T>C (p.Ser8744Pro)
c.26191T>C (p.Ser8731Pro)
c.26176T>C (p.Ser8726Pro)
c.26161T>C (p.Ser8721Pro)
c.26149T>C (p.Ser8717Pro)
c.26146T>C (p.Ser8716Pro)
c.26143T>C (p.Ser8715Pro)
c.26243T>C (p.Val8748Ala)
c.26201T>C (p.Val8734Ala)
c.26132T>C (p.Val8711Ala)
c.26299T>C (p.Ser8767Pro)
c.26287T>C (p.Ser8763Pro)
c.26137T>C (p.Ser8713Pro)
c.24577T>C (p.Ser8193Pro)
c.24070T>C (p.Ser8024Pro)
c.19537T>C (p.Ser6513Pro)
c.2702T>C (p.Val901Ala)
c.26275T>C (p.Ser8759Pro)
c.26224T>C (p.Ser8742Pro)
c.26188T>C (p.Ser8730Pro)
c.26035T>C (p.Ser8679Pro)
c.26174T>C (p.Val8725Ala)
c.26129T>C (p.Val8710Ala)
c.26117T>C (p.Val8706Ala)
6g.152122675A>TCA366089285ESR1,SYNE1c.2689T>A (p.Ser897Thr)
c.26155T>A (p.Ser8719Thr)
c.26011T>A (p.Ser8671Thr)
c.1498T>A
c.1873T>A
c.1740T>A
c.2005T>A (n.2005T>A)
c.24940T>A (p.Ser8314Thr)
n.2903T>A
c.4931T>A (p.Val1644Asp)
n.9847T>A
c.4034T>A (p.Val1345Asp)
n.9739T>A
c.851-2591A>T (n.851-2591A>T)
n.2769T>A
n.6792T>A
n.2933T>A
c.2620T>A (p.Ser874Thr)
c.26302T>A (p.Ser8768Thr)
c.26290T>A (p.Ser8764Thr)
c.26281T>A (p.Ser8761Thr)
c.26260T>A (p.Ser8754Thr)
c.26251T>A (p.Ser8751Thr)
c.26245T>A (p.Ser8749Thr)
c.26233T>A (p.Ser8745Thr)
c.26230T>A (p.Ser8744Thr)
c.26191T>A (p.Ser8731Thr)
c.26176T>A (p.Ser8726Thr)
c.26161T>A (p.Ser8721Thr)
c.26149T>A (p.Ser8717Thr)
c.26146T>A (p.Ser8716Thr)
c.26143T>A (p.Ser8715Thr)
c.26243T>A (p.Val8748Asp)
c.26201T>A (p.Val8734Asp)
c.26132T>A (p.Val8711Asp)
c.26299T>A (p.Ser8767Thr)
c.26287T>A (p.Ser8763Thr)
c.26137T>A (p.Ser8713Thr)
c.24577T>A (p.Ser8193Thr)
c.24070T>A (p.Ser8024Thr)
c.19537T>A (p.Ser6513Thr)
c.2702T>A (p.Val901Asp)
c.26275T>A (p.Ser8759Thr)
c.26224T>A (p.Ser8742Thr)
c.26188T>A (p.Ser8730Thr)
c.26035T>A (p.Ser8679Thr)
c.26174T>A (p.Val8725Asp)
c.26129T>A (p.Val8710Asp)
c.26117T>A (p.Val8706Asp)
6g.152122676C>ACA366089287ESR1,SYNE1c.2688G>T (p.Arg896Ser)
c.26154G>T (p.Arg8718Ser)
c.26010G>T (p.Arg8670Ser)
c.1497G>T
c.1872G>T
c.1739G>T
c.2004G>T (n.2004G>T)
c.24939G>T (p.Arg8313Ser)
n.2902G>T
c.4930G>T (p.Val1644Phe)
n.9846G>T
c.4033G>T (p.Val1345Phe)
n.9738G>T
c.851-2590C>A (n.851-2590C>A)
n.2768G>T
n.6791G>T
n.2932G>T
c.2619G>T (p.Arg873Ser)
c.26301G>T (p.Arg8767Ser)
c.26289G>T (p.Arg8763Ser)
c.26280G>T (p.Arg8760Ser)
c.26259G>T (p.Arg8753Ser)
c.26250G>T (p.Arg8750Ser)
c.26244G>T (p.Arg8748Ser)
c.26232G>T (p.Arg8744Ser)
c.26229G>T (p.Arg8743Ser)
c.26190G>T (p.Arg8730Ser)
c.26175G>T (p.Arg8725Ser)
c.26160G>T (p.Arg8720Ser)
c.26148G>T (p.Arg8716Ser)
c.26145G>T (p.Arg8715Ser)
c.26142G>T (p.Arg8714Ser)
c.26242G>T (p.Val8748Phe)
c.26200G>T (p.Val8734Phe)
c.26131G>T (p.Val8711Phe)
c.26298G>T (p.Arg8766Ser)
c.26286G>T (p.Arg8762Ser)
c.26136G>T (p.Arg8712Ser)
c.24576G>T (p.Arg8192Ser)
c.24069G>T (p.Arg8023Ser)
c.19536G>T (p.Arg6512Ser)
c.2701G>T (p.Val901Phe)
c.26274G>T (p.Arg8758Ser)
c.26223G>T (p.Arg8741Ser)
c.26187G>T (p.Arg8729Ser)
c.26034G>T (p.Arg8678Ser)
c.26173G>T (p.Val8725Phe)
c.26128G>T (p.Val8710Phe)
c.26116G>T (p.Val8706Phe)
 dbSNP gnomAD v4
6g.152122676C=CA1673189325ESR1,SYNE1c.2688G= (p.Arg896=)
c.26154G= (p.Arg8718=)
c.26010G= (p.Arg8670=)
c.1497G=
c.1872G=
c.1739G=
c.2004G= (n.2004G=)
c.24939G= (p.Arg8313=)
n.2902G=
c.4930G= (p.Val1644=)
n.9846G=
c.4033G= (p.Val1345=)
n.9738G=
c.851-2590C= (n.851-2590C=)
n.2768G=
n.6791G=
n.2932G=
c.2619G= (p.Arg873=)
c.26301G= (p.Arg8767=)
c.26289G= (p.Arg8763=)
c.26280G= (p.Arg8760=)
c.26259G= (p.Arg8753=)
c.26250G= (p.Arg8750=)
c.26244G= (p.Arg8748=)
c.26232G= (p.Arg8744=)
c.26229G= (p.Arg8743=)
c.26190G= (p.Arg8730=)
c.26175G= (p.Arg8725=)
c.26160G= (p.Arg8720=)
c.26148G= (p.Arg8716=)
c.26145G= (p.Arg8715=)
c.26142G= (p.Arg8714=)
c.26242G= (p.Val8748=)
c.26200G= (p.Val8734=)
c.26131G= (p.Val8711=)
c.26298G= (p.Arg8766=)
c.26286G= (p.Arg8762=)
c.26136G= (p.Arg8712=)
c.24576G= (p.Arg8192=)
c.24069G= (p.Arg8023=)
c.19536G= (p.Arg6512=)
c.2701G= (p.Val901=)
c.26274G= (p.Arg8758=)
c.26223G= (p.Arg8741=)
c.26187G= (p.Arg8729=)
c.26034G= (p.Arg8678=)
c.26173G= (p.Val8725=)
c.26128G= (p.Val8710=)
c.26116G= (p.Val8706=)
6g.152122676C>GCA366089288ESR1,SYNE1c.2688G>C (p.Arg896Ser)
c.26154G>C (p.Arg8718Ser)
c.26010G>C (p.Arg8670Ser)
c.1497G>C
c.1872G>C
c.1739G>C
c.2004G>C (n.2004G>C)
c.24939G>C (p.Arg8313Ser)
n.2902G>C
c.4930G>C (p.Val1644Leu)
n.9846G>C
c.4033G>C (p.Val1345Leu)
n.9738G>C
c.851-2590C>G (n.851-2590C>G)
n.2768G>C
n.6791G>C
n.2932G>C
c.2619G>C (p.Arg873Ser)
c.26301G>C (p.Arg8767Ser)
c.26289G>C (p.Arg8763Ser)
c.26280G>C (p.Arg8760Ser)
c.26259G>C (p.Arg8753Ser)
c.26250G>C (p.Arg8750Ser)
c.26244G>C (p.Arg8748Ser)
c.26232G>C (p.Arg8744Ser)
c.26229G>C (p.Arg8743Ser)
c.26190G>C (p.Arg8730Ser)
c.26175G>C (p.Arg8725Ser)
c.26160G>C (p.Arg8720Ser)
c.26148G>C (p.Arg8716Ser)
c.26145G>C (p.Arg8715Ser)
c.26142G>C (p.Arg8714Ser)
c.26242G>C (p.Val8748Leu)
c.26200G>C (p.Val8734Leu)
c.26131G>C (p.Val8711Leu)
c.26298G>C (p.Arg8766Ser)
c.26286G>C (p.Arg8762Ser)
c.26136G>C (p.Arg8712Ser)
c.24576G>C (p.Arg8192Ser)
c.24069G>C (p.Arg8023Ser)
c.19536G>C (p.Arg6512Ser)
c.2701G>C (p.Val901Leu)
c.26274G>C (p.Arg8758Ser)
c.26223G>C (p.Arg8741Ser)
c.26187G>C (p.Arg8729Ser)
c.26034G>C (p.Arg8678Ser)
c.26173G>C (p.Val8725Leu)
c.26128G>C (p.Val8710Leu)
c.26116G>C (p.Val8706Leu)
6g.152122676C>TCA366089286ESR1,SYNE1c.2688G>A (p.Arg896=)
c.26154G>A (p.Arg8718=)
c.26010G>A (p.Arg8670=)
c.1497G>A
c.1872G>A
c.1739G>A
c.2004G>A (n.2004G>A)
c.24939G>A (p.Arg8313=)
n.2902G>A
c.4930G>A (p.Val1644Ile)
n.9846G>A
c.4033G>A (p.Val1345Ile)
n.9738G>A
c.851-2590C>T (n.851-2590C>T)
n.2768G>A
n.6791G>A
n.2932G>A
c.2619G>A (p.Arg873=)
c.26301G>A (p.Arg8767=)
c.26289G>A (p.Arg8763=)
c.26280G>A (p.Arg8760=)
c.26259G>A (p.Arg8753=)
c.26250G>A (p.Arg8750=)
c.26244G>A (p.Arg8748=)
c.26232G>A (p.Arg8744=)
c.26229G>A (p.Arg8743=)
c.26190G>A (p.Arg8730=)
c.26175G>A (p.Arg8725=)
c.26160G>A (p.Arg8720=)
c.26148G>A (p.Arg8716=)
c.26145G>A (p.Arg8715=)
c.26142G>A (p.Arg8714=)
c.26242G>A (p.Val8748Ile)
c.26200G>A (p.Val8734Ile)
c.26131G>A (p.Val8711Ile)
c.26298G>A (p.Arg8766=)
c.26286G>A (p.Arg8762=)
c.26136G>A (p.Arg8712=)
c.24576G>A (p.Arg8192=)
c.24069G>A (p.Arg8023=)
c.19536G>A (p.Arg6512=)
c.2701G>A (p.Val901Ile)
c.26274G>A (p.Arg8758=)
c.26223G>A (p.Arg8741=)
c.26187G>A (p.Arg8729=)
c.26034G>A (p.Arg8678=)
c.26173G>A (p.Val8725Ile)
c.26128G>A (p.Val8710Ile)
c.26116G>A (p.Val8706Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
6g.152122677C>ACA366089289ESR1,SYNE1c.2688-1G>T (n.2688-1G>T)
c.26154-1G>T (n.26154-1G>T)
c.26010-1G>T (n.26010-1G>T)
c.1497-1G>T
c.1872-1G>T
c.1739-1G>T
c.2004-1G>T (n.2004-1G>T)
c.24939-1G>T (n.24939-1G>T)
n.2902-1G>T
c.4930-1G>T (n.4930-1G>T)
n.9846-1G>T
c.4033-1G>T (n.4033-1G>T)
n.9738-1G>T
c.851-2589C>A (n.851-2589C>A)
n.2768-1G>T
n.6791-1G>T
n.2932-1G>T
c.2619-1G>T (n.2619-1G>T)
c.26301-1G>T (n.26301-1G>T)
c.26289-1G>T (n.26289-1G>T)
c.26280-1G>T (n.26280-1G>T)
c.26259-1G>T (n.26259-1G>T)
c.26250-1G>T (n.26250-1G>T)
c.26244-1G>T (n.26244-1G>T)
c.26232-1G>T (n.26232-1G>T)
c.26229-1G>T (n.26229-1G>T)
c.26190-1G>T (n.26190-1G>T)
c.26175-1G>T (n.26175-1G>T)
c.26160-1G>T (n.26160-1G>T)
c.26148-1G>T (n.26148-1G>T)
c.26145-1G>T (n.26145-1G>T)
c.26142-1G>T (n.26142-1G>T)
c.26242-1G>T (n.26242-1G>T)
c.26200-1G>T (n.26200-1G>T)
c.26131-1G>T (n.26131-1G>T)
c.26298-1G>T (n.26298-1G>T)
c.26286-1G>T (n.26286-1G>T)
c.26136-1G>T (n.26136-1G>T)
c.24576-1G>T (n.24576-1G>T)
c.24069-1G>T (n.24069-1G>T)
c.19536-1G>T (n.19536-1G>T)
c.2701-1G>T (n.2701-1G>T)
c.26274-1G>T (n.26274-1G>T)
c.26223-1G>T (n.26223-1G>T)
c.26187-1G>T (n.26187-1G>T)
c.26034-1G>T (n.26034-1G>T)
c.26173-1G>T (n.26173-1G>T)
c.26128-1G>T (n.26128-1G>T)
c.26116-1G>T (n.26116-1G>T)
6g.152122677C>GCA366089290ESR1,SYNE1c.2688-1G>C (n.2688-1G>C)
c.26154-1G>C (n.26154-1G>C)
c.26010-1G>C (n.26010-1G>C)
c.1497-1G>C
c.1872-1G>C
c.1739-1G>C
c.2004-1G>C (n.2004-1G>C)
c.24939-1G>C (n.24939-1G>C)
n.2902-1G>C
c.4930-1G>C (n.4930-1G>C)
n.9846-1G>C
c.4033-1G>C (n.4033-1G>C)
n.9738-1G>C
c.851-2589C>G (n.851-2589C>G)
n.2768-1G>C
n.6791-1G>C
n.2932-1G>C
c.2619-1G>C (n.2619-1G>C)
c.26301-1G>C (n.26301-1G>C)
c.26289-1G>C (n.26289-1G>C)
c.26280-1G>C (n.26280-1G>C)
c.26259-1G>C (n.26259-1G>C)
c.26250-1G>C (n.26250-1G>C)
c.26244-1G>C (n.26244-1G>C)
c.26232-1G>C (n.26232-1G>C)
c.26229-1G>C (n.26229-1G>C)
c.26190-1G>C (n.26190-1G>C)
c.26175-1G>C (n.26175-1G>C)
c.26160-1G>C (n.26160-1G>C)
c.26148-1G>C (n.26148-1G>C)
c.26145-1G>C (n.26145-1G>C)
c.26142-1G>C (n.26142-1G>C)
c.26242-1G>C (n.26242-1G>C)
c.26200-1G>C (n.26200-1G>C)
c.26131-1G>C (n.26131-1G>C)
c.26298-1G>C (n.26298-1G>C)
c.26286-1G>C (n.26286-1G>C)
c.26136-1G>C (n.26136-1G>C)
c.24576-1G>C (n.24576-1G>C)
c.24069-1G>C (n.24069-1G>C)
c.19536-1G>C (n.19536-1G>C)
c.2701-1G>C (n.2701-1G>C)
c.26274-1G>C (n.26274-1G>C)
c.26223-1G>C (n.26223-1G>C)
c.26187-1G>C (n.26187-1G>C)
c.26034-1G>C (n.26034-1G>C)
c.26173-1G>C (n.26173-1G>C)
c.26128-1G>C (n.26128-1G>C)
c.26116-1G>C (n.26116-1G>C)
6g.152122677C>TCA366089291ESR1,SYNE1c.2688-1G>A (n.2688-1G>A)
c.26154-1G>A (n.26154-1G>A)
c.26010-1G>A (n.26010-1G>A)
c.1497-1G>A
c.1872-1G>A
c.1739-1G>A
c.2004-1G>A (n.2004-1G>A)
c.24939-1G>A (n.24939-1G>A)
n.2902-1G>A
c.4930-1G>A (n.4930-1G>A)
n.9846-1G>A
c.4033-1G>A (n.4033-1G>A)
n.9738-1G>A
c.851-2589C>T (n.851-2589C>T)
n.2768-1G>A
n.6791-1G>A
n.2932-1G>A
c.2619-1G>A (n.2619-1G>A)
c.26301-1G>A (n.26301-1G>A)
c.26289-1G>A (n.26289-1G>A)
c.26280-1G>A (n.26280-1G>A)
c.26259-1G>A (n.26259-1G>A)
c.26250-1G>A (n.26250-1G>A)
c.26244-1G>A (n.26244-1G>A)
c.26232-1G>A (n.26232-1G>A)
c.26229-1G>A (n.26229-1G>A)
c.26190-1G>A (n.26190-1G>A)
c.26175-1G>A (n.26175-1G>A)
c.26160-1G>A (n.26160-1G>A)
c.26148-1G>A (n.26148-1G>A)
c.26145-1G>A (n.26145-1G>A)
c.26142-1G>A (n.26142-1G>A)
c.26242-1G>A (n.26242-1G>A)
c.26200-1G>A (n.26200-1G>A)
c.26131-1G>A (n.26131-1G>A)
c.26298-1G>A (n.26298-1G>A)
c.26286-1G>A (n.26286-1G>A)
c.26136-1G>A (n.26136-1G>A)
c.24576-1G>A (n.24576-1G>A)
c.24069-1G>A (n.24069-1G>A)
c.19536-1G>A (n.19536-1G>A)
c.2701-1G>A (n.2701-1G>A)
c.26274-1G>A (n.26274-1G>A)
c.26223-1G>A (n.26223-1G>A)
c.26187-1G>A (n.26187-1G>A)
c.26034-1G>A (n.26034-1G>A)
c.26173-1G>A (n.26173-1G>A)
c.26128-1G>A (n.26128-1G>A)
c.26116-1G>A (n.26116-1G>A)
6g.152122678T>ACA366089292ESR1,SYNE1c.2688-2A>T (n.2688-2A>T)
c.26154-2A>T (n.26154-2A>T)
c.26010-2A>T (n.26010-2A>T)
c.1497-2A>T
c.1872-2A>T
c.1739-2A>T
c.2004-2A>T (n.2004-2A>T)
c.24939-2A>T (n.24939-2A>T)
n.2902-2A>T
c.4930-2A>T (n.4930-2A>T)
n.9846-2A>T
c.4033-2A>T (n.4033-2A>T)
n.9738-2A>T
c.851-2588T>A (n.851-2588T>A)
n.2768-2A>T
n.6791-2A>T
n.2932-2A>T
c.2619-2A>T (n.2619-2A>T)
c.26301-2A>T (n.26301-2A>T)
c.26289-2A>T (n.26289-2A>T)
c.26280-2A>T (n.26280-2A>T)
c.26259-2A>T (n.26259-2A>T)
c.26250-2A>T (n.26250-2A>T)
c.26244-2A>T (n.26244-2A>T)
c.26232-2A>T (n.26232-2A>T)
c.26229-2A>T (n.26229-2A>T)
c.26190-2A>T (n.26190-2A>T)
c.26175-2A>T (n.26175-2A>T)
c.26160-2A>T (n.26160-2A>T)
c.26148-2A>T (n.26148-2A>T)
c.26145-2A>T (n.26145-2A>T)
c.26142-2A>T (n.26142-2A>T)
c.26242-2A>T (n.26242-2A>T)
c.26200-2A>T (n.26200-2A>T)
c.26131-2A>T (n.26131-2A>T)
c.26298-2A>T (n.26298-2A>T)
c.26286-2A>T (n.26286-2A>T)
c.26136-2A>T (n.26136-2A>T)
c.24576-2A>T (n.24576-2A>T)
c.24069-2A>T (n.24069-2A>T)
c.19536-2A>T (n.19536-2A>T)
c.2701-2A>T (n.2701-2A>T)
c.26274-2A>T (n.26274-2A>T)
c.26223-2A>T (n.26223-2A>T)
c.26187-2A>T (n.26187-2A>T)
c.26034-2A>T (n.26034-2A>T)
c.26173-2A>T (n.26173-2A>T)
c.26128-2A>T (n.26128-2A>T)
c.26116-2A>T (n.26116-2A>T)
6g.152122678T>CCA366089293ESR1,SYNE1c.2688-2A>G (n.2688-2A>G)
c.26154-2A>G (n.26154-2A>G)
c.26010-2A>G (n.26010-2A>G)
c.1497-2A>G
c.1872-2A>G
c.1739-2A>G
c.2004-2A>G (n.2004-2A>G)
c.24939-2A>G (n.24939-2A>G)
n.2902-2A>G
c.4930-2A>G (n.4930-2A>G)
n.9846-2A>G
c.4033-2A>G (n.4033-2A>G)
n.9738-2A>G
c.851-2588T>C (n.851-2588T>C)
n.2768-2A>G
n.6791-2A>G
n.2932-2A>G
c.2619-2A>G (n.2619-2A>G)
c.26301-2A>G (n.26301-2A>G)
c.26289-2A>G (n.26289-2A>G)
c.26280-2A>G (n.26280-2A>G)
c.26259-2A>G (n.26259-2A>G)
c.26250-2A>G (n.26250-2A>G)
c.26244-2A>G (n.26244-2A>G)
c.26232-2A>G (n.26232-2A>G)
c.26229-2A>G (n.26229-2A>G)
c.26190-2A>G (n.26190-2A>G)
c.26175-2A>G (n.26175-2A>G)
c.26160-2A>G (n.26160-2A>G)
c.26148-2A>G (n.26148-2A>G)
c.26145-2A>G (n.26145-2A>G)
c.26142-2A>G (n.26142-2A>G)
c.26242-2A>G (n.26242-2A>G)
c.26200-2A>G (n.26200-2A>G)
c.26131-2A>G (n.26131-2A>G)
c.26298-2A>G (n.26298-2A>G)
c.26286-2A>G (n.26286-2A>G)
c.26136-2A>G (n.26136-2A>G)
c.24576-2A>G (n.24576-2A>G)
c.24069-2A>G (n.24069-2A>G)
c.19536-2A>G (n.19536-2A>G)
c.2701-2A>G (n.2701-2A>G)
c.26274-2A>G (n.26274-2A>G)
c.26223-2A>G (n.26223-2A>G)
c.26187-2A>G (n.26187-2A>G)
c.26034-2A>G (n.26034-2A>G)
c.26173-2A>G (n.26173-2A>G)
c.26128-2A>G (n.26128-2A>G)
c.26116-2A>G (n.26116-2A>G)
6g.152122678T>GCA150189662ESR1,SYNE1c.2688-2A>C (n.2688-2A>C)
c.26154-2A>C (n.26154-2A>C)
c.26010-2A>C (n.26010-2A>C)
c.1497-2A>C
c.1872-2A>C
c.1739-2A>C
c.2004-2A>C (n.2004-2A>C)
c.24939-2A>C (n.24939-2A>C)
n.2902-2A>C
c.4930-2A>C (n.4930-2A>C)
n.9846-2A>C
c.4033-2A>C (n.4033-2A>C)
n.9738-2A>C
c.851-2588T>G (n.851-2588T>G)
n.2768-2A>C
n.6791-2A>C
n.2932-2A>C
c.2619-2A>C (n.2619-2A>C)
c.26301-2A>C (n.26301-2A>C)
c.26289-2A>C (n.26289-2A>C)
c.26280-2A>C (n.26280-2A>C)
c.26259-2A>C (n.26259-2A>C)
c.26250-2A>C (n.26250-2A>C)
c.26244-2A>C (n.26244-2A>C)
c.26232-2A>C (n.26232-2A>C)
c.26229-2A>C (n.26229-2A>C)
c.26190-2A>C (n.26190-2A>C)
c.26175-2A>C (n.26175-2A>C)
c.26160-2A>C (n.26160-2A>C)
c.26148-2A>C (n.26148-2A>C)
c.26145-2A>C (n.26145-2A>C)
c.26142-2A>C (n.26142-2A>C)
c.26242-2A>C (n.26242-2A>C)
c.26200-2A>C (n.26200-2A>C)
c.26131-2A>C (n.26131-2A>C)
c.26298-2A>C (n.26298-2A>C)
c.26286-2A>C (n.26286-2A>C)
c.26136-2A>C (n.26136-2A>C)
c.24576-2A>C (n.24576-2A>C)
c.24069-2A>C (n.24069-2A>C)
c.19536-2A>C (n.19536-2A>C)
c.2701-2A>C (n.2701-2A>C)
c.26274-2A>C (n.26274-2A>C)
c.26223-2A>C (n.26223-2A>C)
c.26187-2A>C (n.26187-2A>C)
c.26034-2A>C (n.26034-2A>C)
c.26173-2A>C (n.26173-2A>C)
c.26128-2A>C (n.26128-2A>C)
c.26116-2A>C (n.26116-2A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.152122678T=CA1673189328ESR1,SYNE1c.2688-2A= (n.2688-2A=)
c.26154-2A= (n.26154-2A=)
c.26010-2A= (n.26010-2A=)
c.1497-2A=
c.1872-2A=
c.1739-2A=
c.2004-2A= (n.2004-2A=)
c.24939-2A= (n.24939-2A=)
n.2902-2A=
c.4930-2A= (n.4930-2A=)
n.9846-2A=
c.4033-2A= (n.4033-2A=)
n.9738-2A=
c.851-2588T= (n.851-2588T=)
n.2768-2A=
n.6791-2A=
n.2932-2A=
c.2619-2A= (n.2619-2A=)
c.26301-2A= (n.26301-2A=)
c.26289-2A= (n.26289-2A=)
c.26280-2A= (n.26280-2A=)
c.26259-2A= (n.26259-2A=)
c.26250-2A= (n.26250-2A=)
c.26244-2A= (n.26244-2A=)
c.26232-2A= (n.26232-2A=)
c.26229-2A= (n.26229-2A=)
c.26190-2A= (n.26190-2A=)
c.26175-2A= (n.26175-2A=)
c.26160-2A= (n.26160-2A=)
c.26148-2A= (n.26148-2A=)
c.26145-2A= (n.26145-2A=)
c.26142-2A= (n.26142-2A=)
c.26242-2A= (n.26242-2A=)
c.26200-2A= (n.26200-2A=)
c.26131-2A= (n.26131-2A=)
c.26298-2A= (n.26298-2A=)
c.26286-2A= (n.26286-2A=)
c.26136-2A= (n.26136-2A=)
c.24576-2A= (n.24576-2A=)
c.24069-2A= (n.24069-2A=)
c.19536-2A= (n.19536-2A=)
c.2701-2A= (n.2701-2A=)
c.26274-2A= (n.26274-2A=)
c.26223-2A= (n.26223-2A=)
c.26187-2A= (n.26187-2A=)
c.26034-2A= (n.26034-2A=)
c.26173-2A= (n.26173-2A=)
c.26128-2A= (n.26128-2A=)
c.26116-2A= (n.26116-2A=)
6g.152122683_152122684delCA2578773005ESR1,SYNE1c.2688-4_2688-3del (n.2688-4_2688-3del)
c.26154-4_26154-3del (n.26154-4_26154-3del)
c.26010-4_26010-3del (n.26010-4_26010-3del)
c.1497-4_1497-3del
c.1872-4_1872-3del
c.1739-4_1739-3del
c.2004-4_2004-3del (n.2004-4_2004-3del)
c.24939-4_24939-3del (n.24939-4_24939-3del)
n.2902-4_2902-3del
c.4930-4_4930-3del (n.4930-4_4930-3del)
n.9846-4_9846-3del
c.4033-4_4033-3del (n.4033-4_4033-3del)
n.9738-4_9738-3del
c.851-2583_851-2582del (n.851-2583_851-2582del)
n.2768-4_2768-3del
n.6791-4_6791-3del
n.2932-4_2932-3del
c.2619-4_2619-3del (n.2619-4_2619-3del)
c.26301-4_26301-3del (n.26301-4_26301-3del)
c.26289-4_26289-3del (n.26289-4_26289-3del)
c.26280-4_26280-3del (n.26280-4_26280-3del)
c.26259-4_26259-3del (n.26259-4_26259-3del)
c.26250-4_26250-3del (n.26250-4_26250-3del)
c.26244-4_26244-3del (n.26244-4_26244-3del)
c.26232-4_26232-3del (n.26232-4_26232-3del)
c.26229-4_26229-3del (n.26229-4_26229-3del)
c.26190-4_26190-3del (n.26190-4_26190-3del)
c.26175-4_26175-3del (n.26175-4_26175-3del)
c.26160-4_26160-3del (n.26160-4_26160-3del)
c.26148-4_26148-3del (n.26148-4_26148-3del)
c.26145-4_26145-3del (n.26145-4_26145-3del)
c.26142-4_26142-3del (n.26142-4_26142-3del)
c.26242-4_26242-3del (n.26242-4_26242-3del)
c.26200-4_26200-3del (n.26200-4_26200-3del)
c.26131-4_26131-3del (n.26131-4_26131-3del)
c.26298-4_26298-3del (n.26298-4_26298-3del)
c.26286-4_26286-3del (n.26286-4_26286-3del)
c.26136-4_26136-3del (n.26136-4_26136-3del)
c.24576-4_24576-3del (n.24576-4_24576-3del)
c.24069-4_24069-3del (n.24069-4_24069-3del)
c.19536-4_19536-3del (n.19536-4_19536-3del)
c.2701-4_2701-3del (n.2701-4_2701-3del)
c.26274-4_26274-3del (n.26274-4_26274-3del)
c.26223-4_26223-3del (n.26223-4_26223-3del)
c.26187-4_26187-3del (n.26187-4_26187-3del)
c.26034-4_26034-3del (n.26034-4_26034-3del)
c.26173-4_26173-3del (n.26173-4_26173-3del)
c.26128-4_26128-3del (n.26128-4_26128-3del)
c.26116-4_26116-3del (n.26116-4_26116-3del)
6g.152122681G>ACA2680809430ESR1,SYNE1c.2688-5C>T (n.2688-5C>T)
c.26154-5C>T (n.26154-5C>T)
c.26010-5C>T (n.26010-5C>T)
c.1497-5C>T
c.1872-5C>T
c.1739-5C>T
c.2004-5C>T (n.2004-5C>T)
c.24939-5C>T (n.24939-5C>T)
n.2902-5C>T
c.4930-5C>T (n.4930-5C>T)
n.9846-5C>T
c.4033-5C>T (n.4033-5C>T)
n.9738-5C>T
c.851-2585G>A (n.851-2585G>A)
n.2768-5C>T
n.6791-5C>T
n.2932-5C>T
c.2619-5C>T (n.2619-5C>T)
c.26301-5C>T (n.26301-5C>T)
c.26289-5C>T (n.26289-5C>T)
c.26280-5C>T (n.26280-5C>T)
c.26259-5C>T (n.26259-5C>T)
c.26250-5C>T (n.26250-5C>T)
c.26244-5C>T (n.26244-5C>T)
c.26232-5C>T (n.26232-5C>T)
c.26229-5C>T (n.26229-5C>T)
c.26190-5C>T (n.26190-5C>T)
c.26175-5C>T (n.26175-5C>T)
c.26160-5C>T (n.26160-5C>T)
c.26148-5C>T (n.26148-5C>T)
c.26145-5C>T (n.26145-5C>T)
c.26142-5C>T (n.26142-5C>T)
c.26242-5C>T (n.26242-5C>T)
c.26200-5C>T (n.26200-5C>T)
c.26131-5C>T (n.26131-5C>T)
c.26298-5C>T (n.26298-5C>T)
c.26286-5C>T (n.26286-5C>T)
c.26136-5C>T (n.26136-5C>T)
c.24576-5C>T (n.24576-5C>T)
c.24069-5C>T (n.24069-5C>T)
c.19536-5C>T (n.19536-5C>T)
c.2701-5C>T (n.2701-5C>T)
c.26274-5C>T (n.26274-5C>T)
c.26223-5C>T (n.26223-5C>T)
c.26187-5C>T (n.26187-5C>T)
c.26034-5C>T (n.26034-5C>T)
c.26173-5C>T (n.26173-5C>T)
c.26128-5C>T (n.26128-5C>T)
c.26116-5C>T (n.26116-5C>T)
 gnomAD v4
6g.152122683G=CA1673189333ESR1,SYNE1c.2688-7C= (n.2688-7C=)
c.26154-7C= (n.26154-7C=)
c.26010-7C= (n.26010-7C=)
c.1497-7C=
c.1872-7C=
c.1739-7C=
c.2004-7C= (n.2004-7C=)
c.24939-7C= (n.24939-7C=)
n.2902-7C=
c.4930-7C= (n.4930-7C=)
n.9846-7C=
c.4033-7C= (n.4033-7C=)
n.9738-7C=
c.851-2583G= (n.851-2583G=)
n.2768-7C=
n.6791-7C=
n.2932-7C=
c.2619-7C= (n.2619-7C=)
c.26301-7C= (n.26301-7C=)
c.26289-7C= (n.26289-7C=)
c.26280-7C= (n.26280-7C=)
c.26259-7C= (n.26259-7C=)
c.26250-7C= (n.26250-7C=)
c.26244-7C= (n.26244-7C=)
c.26232-7C= (n.26232-7C=)
c.26229-7C= (n.26229-7C=)
c.26190-7C= (n.26190-7C=)
c.26175-7C= (n.26175-7C=)
c.26160-7C= (n.26160-7C=)
c.26148-7C= (n.26148-7C=)
c.26145-7C= (n.26145-7C=)
c.26142-7C= (n.26142-7C=)
c.26242-7C= (n.26242-7C=)
c.26200-7C= (n.26200-7C=)
c.26131-7C= (n.26131-7C=)
c.26298-7C= (n.26298-7C=)
c.26286-7C= (n.26286-7C=)
c.26136-7C= (n.26136-7C=)
c.24576-7C= (n.24576-7C=)
c.24069-7C= (n.24069-7C=)
c.19536-7C= (n.19536-7C=)
c.2701-7C= (n.2701-7C=)
c.26274-7C= (n.26274-7C=)
c.26223-7C= (n.26223-7C=)
c.26187-7C= (n.26187-7C=)
c.26034-7C= (n.26034-7C=)
c.26173-7C= (n.26173-7C=)
c.26128-7C= (n.26128-7C=)
c.26116-7C= (n.26116-7C=)
6g.152122683G>TCA1673189335ESR1,SYNE1c.2688-7C>A (n.2688-7C>A)
c.26154-7C>A (n.26154-7C>A)
c.26010-7C>A (n.26010-7C>A)
c.1497-7C>A
c.1872-7C>A
c.1739-7C>A
c.2004-7C>A (n.2004-7C>A)
c.24939-7C>A (n.24939-7C>A)
n.2902-7C>A
c.4930-7C>A (n.4930-7C>A)
n.9846-7C>A
c.4033-7C>A (n.4033-7C>A)
n.9738-7C>A
c.851-2583G>T (n.851-2583G>T)
n.2768-7C>A
n.6791-7C>A
n.2932-7C>A
c.2619-7C>A (n.2619-7C>A)
c.26301-7C>A (n.26301-7C>A)
c.26289-7C>A (n.26289-7C>A)
c.26280-7C>A (n.26280-7C>A)
c.26259-7C>A (n.26259-7C>A)
c.26250-7C>A (n.26250-7C>A)
c.26244-7C>A (n.26244-7C>A)
c.26232-7C>A (n.26232-7C>A)
c.26229-7C>A (n.26229-7C>A)
c.26190-7C>A (n.26190-7C>A)
c.26175-7C>A (n.26175-7C>A)
c.26160-7C>A (n.26160-7C>A)
c.26148-7C>A (n.26148-7C>A)
c.26145-7C>A (n.26145-7C>A)
c.26142-7C>A (n.26142-7C>A)
c.26242-7C>A (n.26242-7C>A)
c.26200-7C>A (n.26200-7C>A)
c.26131-7C>A (n.26131-7C>A)
c.26298-7C>A (n.26298-7C>A)
c.26286-7C>A (n.26286-7C>A)
c.26136-7C>A (n.26136-7C>A)
c.24576-7C>A (n.24576-7C>A)
c.24069-7C>A (n.24069-7C>A)
c.19536-7C>A (n.19536-7C>A)
c.2701-7C>A (n.2701-7C>A)
c.26274-7C>A (n.26274-7C>A)
c.26223-7C>A (n.26223-7C>A)
c.26187-7C>A (n.26187-7C>A)
c.26034-7C>A (n.26034-7C>A)
c.26173-7C>A (n.26173-7C>A)
c.26128-7C>A (n.26128-7C>A)
c.26116-7C>A (n.26116-7C>A)
 dbSNP gnomAD v4
6g.152122684A=CA1673189338ESR1,SYNE1c.2688-8T= (n.2688-8T=)
c.26154-8T= (n.26154-8T=)
c.26010-8T= (n.26010-8T=)
c.1497-8T=
c.1872-8T=
c.1739-8T=
c.2004-8T= (n.2004-8T=)
c.24939-8T= (n.24939-8T=)
n.2902-8T=
c.4930-8T= (n.4930-8T=)
n.9846-8T=
c.4033-8T= (n.4033-8T=)
n.9738-8T=
c.851-2582A= (n.851-2582A=)
n.2768-8T=
n.6791-8T=
n.2932-8T=
c.2619-8T= (n.2619-8T=)
c.26301-8T= (n.26301-8T=)
c.26289-8T= (n.26289-8T=)
c.26280-8T= (n.26280-8T=)
c.26259-8T= (n.26259-8T=)
c.26250-8T= (n.26250-8T=)
c.26244-8T= (n.26244-8T=)
c.26232-8T= (n.26232-8T=)
c.26229-8T= (n.26229-8T=)
c.26190-8T= (n.26190-8T=)
c.26175-8T= (n.26175-8T=)
c.26160-8T= (n.26160-8T=)
c.26148-8T= (n.26148-8T=)
c.26145-8T= (n.26145-8T=)
c.26142-8T= (n.26142-8T=)
c.26242-8T= (n.26242-8T=)
c.26200-8T= (n.26200-8T=)
c.26131-8T= (n.26131-8T=)
c.26298-8T= (n.26298-8T=)
c.26286-8T= (n.26286-8T=)
c.26136-8T= (n.26136-8T=)
c.24576-8T= (n.24576-8T=)
c.24069-8T= (n.24069-8T=)
c.19536-8T= (n.19536-8T=)
c.2701-8T= (n.2701-8T=)
c.26274-8T= (n.26274-8T=)
c.26223-8T= (n.26223-8T=)
c.26187-8T= (n.26187-8T=)
c.26034-8T= (n.26034-8T=)
c.26173-8T= (n.26173-8T=)
c.26128-8T= (n.26128-8T=)
c.26116-8T= (n.26116-8T=)
6g.152122684A>GCA1673189339ESR1,SYNE1c.2688-8T>C (n.2688-8T>C)
c.26154-8T>C (n.26154-8T>C)
c.26010-8T>C (n.26010-8T>C)
c.1497-8T>C
c.1872-8T>C
c.1739-8T>C
c.2004-8T>C (n.2004-8T>C)
c.24939-8T>C (n.24939-8T>C)
n.2902-8T>C
c.4930-8T>C (n.4930-8T>C)
n.9846-8T>C
c.4033-8T>C (n.4033-8T>C)
n.9738-8T>C
c.851-2582A>G (n.851-2582A>G)
n.2768-8T>C
n.6791-8T>C
n.2932-8T>C
c.2619-8T>C (n.2619-8T>C)
c.26301-8T>C (n.26301-8T>C)
c.26289-8T>C (n.26289-8T>C)
c.26280-8T>C (n.26280-8T>C)
c.26259-8T>C (n.26259-8T>C)
c.26250-8T>C (n.26250-8T>C)
c.26244-8T>C (n.26244-8T>C)
c.26232-8T>C (n.26232-8T>C)
c.26229-8T>C (n.26229-8T>C)
c.26190-8T>C (n.26190-8T>C)
c.26175-8T>C (n.26175-8T>C)
c.26160-8T>C (n.26160-8T>C)
c.26148-8T>C (n.26148-8T>C)
c.26145-8T>C (n.26145-8T>C)
c.26142-8T>C (n.26142-8T>C)
c.26242-8T>C (n.26242-8T>C)
c.26200-8T>C (n.26200-8T>C)
c.26131-8T>C (n.26131-8T>C)
c.26298-8T>C (n.26298-8T>C)
c.26286-8T>C (n.26286-8T>C)
c.26136-8T>C (n.26136-8T>C)
c.24576-8T>C (n.24576-8T>C)
c.24069-8T>C (n.24069-8T>C)
c.19536-8T>C (n.19536-8T>C)
c.2701-8T>C (n.2701-8T>C)
c.26274-8T>C (n.26274-8T>C)
c.26223-8T>C (n.26223-8T>C)
c.26187-8T>C (n.26187-8T>C)
c.26034-8T>C (n.26034-8T>C)
c.26173-8T>C (n.26173-8T>C)
c.26128-8T>C (n.26128-8T>C)
c.26116-8T>C (n.26116-8T>C)
 dbSNP
6g.152122685A=CA1673189342ESR1,SYNE1c.2688-9T= (n.2688-9T=)
c.26154-9T= (n.26154-9T=)
c.26010-9T= (n.26010-9T=)
c.1497-9T=
c.1872-9T=
c.1739-9T=
c.2004-9T= (n.2004-9T=)
c.24939-9T= (n.24939-9T=)
n.2902-9T=
c.4930-9T= (n.4930-9T=)
n.9846-9T=
c.4033-9T= (n.4033-9T=)
n.9738-9T=
c.851-2581A= (n.851-2581A=)
n.2768-9T=
n.6791-9T=
n.2932-9T=
c.2619-9T= (n.2619-9T=)
c.26301-9T= (n.26301-9T=)
c.26289-9T= (n.26289-9T=)
c.26280-9T= (n.26280-9T=)
c.26259-9T= (n.26259-9T=)
c.26250-9T= (n.26250-9T=)
c.26244-9T= (n.26244-9T=)
c.26232-9T= (n.26232-9T=)
c.26229-9T= (n.26229-9T=)
c.26190-9T= (n.26190-9T=)
c.26175-9T= (n.26175-9T=)
c.26160-9T= (n.26160-9T=)
c.26148-9T= (n.26148-9T=)
c.26145-9T= (n.26145-9T=)
c.26142-9T= (n.26142-9T=)
c.26242-9T= (n.26242-9T=)
c.26200-9T= (n.26200-9T=)
c.26131-9T= (n.26131-9T=)
c.26298-9T= (n.26298-9T=)
c.26286-9T= (n.26286-9T=)
c.26136-9T= (n.26136-9T=)
c.24576-9T= (n.24576-9T=)
c.24069-9T= (n.24069-9T=)
c.19536-9T= (n.19536-9T=)
c.2701-9T= (n.2701-9T=)
c.26274-9T= (n.26274-9T=)
c.26223-9T= (n.26223-9T=)
c.26187-9T= (n.26187-9T=)
c.26034-9T= (n.26034-9T=)
c.26173-9T= (n.26173-9T=)
c.26128-9T= (n.26128-9T=)
c.26116-9T= (n.26116-9T=)
6g.152122685A>GCA150189681ESR1,SYNE1c.2688-9T>C (n.2688-9T>C)
c.26154-9T>C (n.26154-9T>C)
c.26010-9T>C (n.26010-9T>C)
c.1497-9T>C
c.1872-9T>C
c.1739-9T>C
c.2004-9T>C (n.2004-9T>C)
c.24939-9T>C (n.24939-9T>C)
n.2902-9T>C
c.4930-9T>C (n.4930-9T>C)
n.9846-9T>C
c.4033-9T>C (n.4033-9T>C)
n.9738-9T>C
c.851-2581A>G (n.851-2581A>G)
n.2768-9T>C
n.6791-9T>C
n.2932-9T>C
c.2619-9T>C (n.2619-9T>C)
c.26301-9T>C (n.26301-9T>C)
c.26289-9T>C (n.26289-9T>C)
c.26280-9T>C (n.26280-9T>C)
c.26259-9T>C (n.26259-9T>C)
c.26250-9T>C (n.26250-9T>C)
c.26244-9T>C (n.26244-9T>C)
c.26232-9T>C (n.26232-9T>C)
c.26229-9T>C (n.26229-9T>C)
c.26190-9T>C (n.26190-9T>C)
c.26175-9T>C (n.26175-9T>C)
c.26160-9T>C (n.26160-9T>C)
c.26148-9T>C (n.26148-9T>C)
c.26145-9T>C (n.26145-9T>C)
c.26142-9T>C (n.26142-9T>C)
c.26242-9T>C (n.26242-9T>C)
c.26200-9T>C (n.26200-9T>C)
c.26131-9T>C (n.26131-9T>C)
c.26298-9T>C (n.26298-9T>C)
c.26286-9T>C (n.26286-9T>C)
c.26136-9T>C (n.26136-9T>C)
c.24576-9T>C (n.24576-9T>C)
c.24069-9T>C (n.24069-9T>C)
c.19536-9T>C (n.19536-9T>C)
c.2701-9T>C (n.2701-9T>C)
c.26274-9T>C (n.26274-9T>C)
c.26223-9T>C (n.26223-9T>C)
c.26187-9T>C (n.26187-9T>C)
c.26034-9T>C (n.26034-9T>C)
c.26173-9T>C (n.26173-9T>C)
c.26128-9T>C (n.26128-9T>C)
c.26116-9T>C (n.26116-9T>C)
 ClinVar dbSNP gnomAD v4
6g.152122686G>ACA4052618ESR1,SYNE1c.2688-10C>T (n.2688-10C>T)
c.26154-10C>T (n.26154-10C>T)
c.26010-10C>T (n.26010-10C>T)
c.1497-10C>T
c.1872-10C>T
c.1739-10C>T
c.2004-10C>T (n.2004-10C>T)
c.24939-10C>T (n.24939-10C>T)
n.2902-10C>T
c.4930-10C>T (n.4930-10C>T)
n.9846-10C>T
c.4033-10C>T (n.4033-10C>T)
n.9738-10C>T
c.851-2580G>A (n.851-2580G>A)
n.2768-10C>T
n.6791-10C>T
n.2932-10C>T
c.2619-10C>T (n.2619-10C>T)
c.26301-10C>T (n.26301-10C>T)
c.26289-10C>T (n.26289-10C>T)
c.26280-10C>T (n.26280-10C>T)
c.26259-10C>T (n.26259-10C>T)
c.26250-10C>T (n.26250-10C>T)
c.26244-10C>T (n.26244-10C>T)
c.26232-10C>T (n.26232-10C>T)
c.26229-10C>T (n.26229-10C>T)
c.26190-10C>T (n.26190-10C>T)
c.26175-10C>T (n.26175-10C>T)
c.26160-10C>T (n.26160-10C>T)
c.26148-10C>T (n.26148-10C>T)
c.26145-10C>T (n.26145-10C>T)
c.26142-10C>T (n.26142-10C>T)
c.26242-10C>T (n.26242-10C>T)
c.26200-10C>T (n.26200-10C>T)
c.26131-10C>T (n.26131-10C>T)
c.26298-10C>T (n.26298-10C>T)
c.26286-10C>T (n.26286-10C>T)
c.26136-10C>T (n.26136-10C>T)
c.24576-10C>T (n.24576-10C>T)
c.24069-10C>T (n.24069-10C>T)
c.19536-10C>T (n.19536-10C>T)
c.2701-10C>T (n.2701-10C>T)
c.26274-10C>T (n.26274-10C>T)
c.26223-10C>T (n.26223-10C>T)
c.26187-10C>T (n.26187-10C>T)
c.26034-10C>T (n.26034-10C>T)
c.26173-10C>T (n.26173-10C>T)
c.26128-10C>T (n.26128-10C>T)
c.26116-10C>T (n.26116-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122686G>CCA1673189346ESR1,SYNE1c.2688-10C>G (n.2688-10C>G)
c.26154-10C>G (n.26154-10C>G)
c.26010-10C>G (n.26010-10C>G)
c.1497-10C>G
c.1872-10C>G
c.1739-10C>G
c.2004-10C>G (n.2004-10C>G)
c.24939-10C>G (n.24939-10C>G)
n.2902-10C>G
c.4930-10C>G (n.4930-10C>G)
n.9846-10C>G
c.4033-10C>G (n.4033-10C>G)
n.9738-10C>G
c.851-2580G>C (n.851-2580G>C)
n.2768-10C>G
n.6791-10C>G
n.2932-10C>G
c.2619-10C>G (n.2619-10C>G)
c.26301-10C>G (n.26301-10C>G)
c.26289-10C>G (n.26289-10C>G)
c.26280-10C>G (n.26280-10C>G)
c.26259-10C>G (n.26259-10C>G)
c.26250-10C>G (n.26250-10C>G)
c.26244-10C>G (n.26244-10C>G)
c.26232-10C>G (n.26232-10C>G)
c.26229-10C>G (n.26229-10C>G)
c.26190-10C>G (n.26190-10C>G)
c.26175-10C>G (n.26175-10C>G)
c.26160-10C>G (n.26160-10C>G)
c.26148-10C>G (n.26148-10C>G)
c.26145-10C>G (n.26145-10C>G)
c.26142-10C>G (n.26142-10C>G)
c.26242-10C>G (n.26242-10C>G)
c.26200-10C>G (n.26200-10C>G)
c.26131-10C>G (n.26131-10C>G)
c.26298-10C>G (n.26298-10C>G)
c.26286-10C>G (n.26286-10C>G)
c.26136-10C>G (n.26136-10C>G)
c.24576-10C>G (n.24576-10C>G)
c.24069-10C>G (n.24069-10C>G)
c.19536-10C>G (n.19536-10C>G)
c.2701-10C>G (n.2701-10C>G)
c.26274-10C>G (n.26274-10C>G)
c.26223-10C>G (n.26223-10C>G)
c.26187-10C>G (n.26187-10C>G)
c.26034-10C>G (n.26034-10C>G)
c.26173-10C>G (n.26173-10C>G)
c.26128-10C>G (n.26128-10C>G)
c.26116-10C>G (n.26116-10C>G)
 dbSNP gnomAD v4
6g.152122686G=CA1673189347ESR1,SYNE1c.2688-10C= (n.2688-10C=)
c.26154-10C= (n.26154-10C=)
c.26010-10C= (n.26010-10C=)
c.1497-10C=
c.1872-10C=
c.1739-10C=
c.2004-10C= (n.2004-10C=)
c.24939-10C= (n.24939-10C=)
n.2902-10C=
c.4930-10C= (n.4930-10C=)
n.9846-10C=
c.4033-10C= (n.4033-10C=)
n.9738-10C=
c.851-2580G= (n.851-2580G=)
n.2768-10C=
n.6791-10C=
n.2932-10C=
c.2619-10C= (n.2619-10C=)
c.26301-10C= (n.26301-10C=)
c.26289-10C= (n.26289-10C=)
c.26280-10C= (n.26280-10C=)
c.26259-10C= (n.26259-10C=)
c.26250-10C= (n.26250-10C=)
c.26244-10C= (n.26244-10C=)
c.26232-10C= (n.26232-10C=)
c.26229-10C= (n.26229-10C=)
c.26190-10C= (n.26190-10C=)
c.26175-10C= (n.26175-10C=)
c.26160-10C= (n.26160-10C=)
c.26148-10C= (n.26148-10C=)
c.26145-10C= (n.26145-10C=)
c.26142-10C= (n.26142-10C=)
c.26242-10C= (n.26242-10C=)
c.26200-10C= (n.26200-10C=)
c.26131-10C= (n.26131-10C=)
c.26298-10C= (n.26298-10C=)
c.26286-10C= (n.26286-10C=)
c.26136-10C= (n.26136-10C=)
c.24576-10C= (n.24576-10C=)
c.24069-10C= (n.24069-10C=)
c.19536-10C= (n.19536-10C=)
c.2701-10C= (n.2701-10C=)
c.26274-10C= (n.26274-10C=)
c.26223-10C= (n.26223-10C=)
c.26187-10C= (n.26187-10C=)
c.26034-10C= (n.26034-10C=)
c.26173-10C= (n.26173-10C=)
c.26128-10C= (n.26128-10C=)
c.26116-10C= (n.26116-10C=)
6g.152122686G>TCA4052619ESR1,SYNE1c.2688-10C>A (n.2688-10C>A)
c.26154-10C>A (n.26154-10C>A)
c.26010-10C>A (n.26010-10C>A)
c.1497-10C>A
c.1872-10C>A
c.1739-10C>A
c.2004-10C>A (n.2004-10C>A)
c.24939-10C>A (n.24939-10C>A)
n.2902-10C>A
c.4930-10C>A (n.4930-10C>A)
n.9846-10C>A
c.4033-10C>A (n.4033-10C>A)
n.9738-10C>A
c.851-2580G>T (n.851-2580G>T)
n.2768-10C>A
n.6791-10C>A
n.2932-10C>A
c.2619-10C>A (n.2619-10C>A)
c.26301-10C>A (n.26301-10C>A)
c.26289-10C>A (n.26289-10C>A)
c.26280-10C>A (n.26280-10C>A)
c.26259-10C>A (n.26259-10C>A)
c.26250-10C>A (n.26250-10C>A)
c.26244-10C>A (n.26244-10C>A)
c.26232-10C>A (n.26232-10C>A)
c.26229-10C>A (n.26229-10C>A)
c.26190-10C>A (n.26190-10C>A)
c.26175-10C>A (n.26175-10C>A)
c.26160-10C>A (n.26160-10C>A)
c.26148-10C>A (n.26148-10C>A)
c.26145-10C>A (n.26145-10C>A)
c.26142-10C>A (n.26142-10C>A)
c.26242-10C>A (n.26242-10C>A)
c.26200-10C>A (n.26200-10C>A)
c.26131-10C>A (n.26131-10C>A)
c.26298-10C>A (n.26298-10C>A)
c.26286-10C>A (n.26286-10C>A)
c.26136-10C>A (n.26136-10C>A)
c.24576-10C>A (n.24576-10C>A)
c.24069-10C>A (n.24069-10C>A)
c.19536-10C>A (n.19536-10C>A)
c.2701-10C>A (n.2701-10C>A)
c.26274-10C>A (n.26274-10C>A)
c.26223-10C>A (n.26223-10C>A)
c.26187-10C>A (n.26187-10C>A)
c.26034-10C>A (n.26034-10C>A)
c.26173-10C>A (n.26173-10C>A)
c.26128-10C>A (n.26128-10C>A)
c.26116-10C>A (n.26116-10C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122687A>GCA2680809431ESR1,SYNE1c.2688-11T>C (n.2688-11T>C)
c.26154-11T>C (n.26154-11T>C)
c.26010-11T>C (n.26010-11T>C)
c.1497-11T>C
c.1872-11T>C
c.1739-11T>C
c.2004-11T>C (n.2004-11T>C)
c.24939-11T>C (n.24939-11T>C)
n.2902-11T>C
c.4930-11T>C (n.4930-11T>C)
n.9846-11T>C
c.4033-11T>C (n.4033-11T>C)
n.9738-11T>C
c.851-2579A>G (n.851-2579A>G)
n.2768-11T>C
n.6791-11T>C
n.2932-11T>C
c.2619-11T>C (n.2619-11T>C)
c.26301-11T>C (n.26301-11T>C)
c.26289-11T>C (n.26289-11T>C)
c.26280-11T>C (n.26280-11T>C)
c.26259-11T>C (n.26259-11T>C)
c.26250-11T>C (n.26250-11T>C)
c.26244-11T>C (n.26244-11T>C)
c.26232-11T>C (n.26232-11T>C)
c.26229-11T>C (n.26229-11T>C)
c.26190-11T>C (n.26190-11T>C)
c.26175-11T>C (n.26175-11T>C)
c.26160-11T>C (n.26160-11T>C)
c.26148-11T>C (n.26148-11T>C)
c.26145-11T>C (n.26145-11T>C)
c.26142-11T>C (n.26142-11T>C)
c.26242-11T>C (n.26242-11T>C)
c.26200-11T>C (n.26200-11T>C)
c.26131-11T>C (n.26131-11T>C)
c.26298-11T>C (n.26298-11T>C)
c.26286-11T>C (n.26286-11T>C)
c.26136-11T>C (n.26136-11T>C)
c.24576-11T>C (n.24576-11T>C)
c.24069-11T>C (n.24069-11T>C)
c.19536-11T>C (n.19536-11T>C)
c.2701-11T>C (n.2701-11T>C)
c.26274-11T>C (n.26274-11T>C)
c.26223-11T>C (n.26223-11T>C)
c.26187-11T>C (n.26187-11T>C)
c.26034-11T>C (n.26034-11T>C)
c.26173-11T>C (n.26173-11T>C)
c.26128-11T>C (n.26128-11T>C)
c.26116-11T>C (n.26116-11T>C)
 gnomAD v4
6g.152122689T>GCA1673189354ESR1,SYNE1c.2688-13A>C (n.2688-13A>C)
c.26154-13A>C (n.26154-13A>C)
c.26010-13A>C (n.26010-13A>C)
c.1497-13A>C
c.1872-13A>C
c.1739-13A>C
c.2004-13A>C (n.2004-13A>C)
c.24939-13A>C (n.24939-13A>C)
n.2902-13A>C
c.4930-13A>C (n.4930-13A>C)
n.9846-13A>C
c.4033-13A>C (n.4033-13A>C)
n.9738-13A>C
c.851-2577T>G (n.851-2577T>G)
n.2768-13A>C
n.6791-13A>C
n.2932-13A>C
c.2619-13A>C (n.2619-13A>C)
c.26301-13A>C (n.26301-13A>C)
c.26289-13A>C (n.26289-13A>C)
c.26280-13A>C (n.26280-13A>C)
c.26259-13A>C (n.26259-13A>C)
c.26250-13A>C (n.26250-13A>C)
c.26244-13A>C (n.26244-13A>C)
c.26232-13A>C (n.26232-13A>C)
c.26229-13A>C (n.26229-13A>C)
c.26190-13A>C (n.26190-13A>C)
c.26175-13A>C (n.26175-13A>C)
c.26160-13A>C (n.26160-13A>C)
c.26148-13A>C (n.26148-13A>C)
c.26145-13A>C (n.26145-13A>C)
c.26142-13A>C (n.26142-13A>C)
c.26242-13A>C (n.26242-13A>C)
c.26200-13A>C (n.26200-13A>C)
c.26131-13A>C (n.26131-13A>C)
c.26298-13A>C (n.26298-13A>C)
c.26286-13A>C (n.26286-13A>C)
c.26136-13A>C (n.26136-13A>C)
c.24576-13A>C (n.24576-13A>C)
c.24069-13A>C (n.24069-13A>C)
c.19536-13A>C (n.19536-13A>C)
c.2701-13A>C (n.2701-13A>C)
c.26274-13A>C (n.26274-13A>C)
c.26223-13A>C (n.26223-13A>C)
c.26187-13A>C (n.26187-13A>C)
c.26034-13A>C (n.26034-13A>C)
c.26173-13A>C (n.26173-13A>C)
c.26128-13A>C (n.26128-13A>C)
c.26116-13A>C (n.26116-13A>C)
 dbSNP gnomAD v4
6g.152122689T=CA1673189352ESR1,SYNE1c.2688-13A= (n.2688-13A=)
c.26154-13A= (n.26154-13A=)
c.26010-13A= (n.26010-13A=)
c.1497-13A=
c.1872-13A=
c.1739-13A=
c.2004-13A= (n.2004-13A=)
c.24939-13A= (n.24939-13A=)
n.2902-13A=
c.4930-13A= (n.4930-13A=)
n.9846-13A=
c.4033-13A= (n.4033-13A=)
n.9738-13A=
c.851-2577T= (n.851-2577T=)
n.2768-13A=
n.6791-13A=
n.2932-13A=
c.2619-13A= (n.2619-13A=)
c.26301-13A= (n.26301-13A=)
c.26289-13A= (n.26289-13A=)
c.26280-13A= (n.26280-13A=)
c.26259-13A= (n.26259-13A=)
c.26250-13A= (n.26250-13A=)
c.26244-13A= (n.26244-13A=)
c.26232-13A= (n.26232-13A=)
c.26229-13A= (n.26229-13A=)
c.26190-13A= (n.26190-13A=)
c.26175-13A= (n.26175-13A=)
c.26160-13A= (n.26160-13A=)
c.26148-13A= (n.26148-13A=)
c.26145-13A= (n.26145-13A=)
c.26142-13A= (n.26142-13A=)
c.26242-13A= (n.26242-13A=)
c.26200-13A= (n.26200-13A=)
c.26131-13A= (n.26131-13A=)
c.26298-13A= (n.26298-13A=)
c.26286-13A= (n.26286-13A=)
c.26136-13A= (n.26136-13A=)
c.24576-13A= (n.24576-13A=)
c.24069-13A= (n.24069-13A=)
c.19536-13A= (n.19536-13A=)
c.2701-13A= (n.2701-13A=)
c.26274-13A= (n.26274-13A=)
c.26223-13A= (n.26223-13A=)
c.26187-13A= (n.26187-13A=)
c.26034-13A= (n.26034-13A=)
c.26173-13A= (n.26173-13A=)
c.26128-13A= (n.26128-13A=)
c.26116-13A= (n.26116-13A=)
6g.152122692A=CA1673189357ESR1,SYNE1c.2688-16T= (n.2688-16T=)
c.26154-16T= (n.26154-16T=)
c.26010-16T= (n.26010-16T=)
c.1497-16T=
c.1872-16T=
c.1739-16T=
c.2004-16T= (n.2004-16T=)
c.24939-16T= (n.24939-16T=)
n.2902-16T=
c.4930-16T= (n.4930-16T=)
n.9846-16T=
c.4033-16T= (n.4033-16T=)
n.9738-16T=
c.851-2574A= (n.851-2574A=)
n.2768-16T=
n.6791-16T=
n.2932-16T=
c.2619-16T= (n.2619-16T=)
c.26301-16T= (n.26301-16T=)
c.26289-16T= (n.26289-16T=)
c.26280-16T= (n.26280-16T=)
c.26259-16T= (n.26259-16T=)
c.26250-16T= (n.26250-16T=)
c.26244-16T= (n.26244-16T=)
c.26232-16T= (n.26232-16T=)
c.26229-16T= (n.26229-16T=)
c.26190-16T= (n.26190-16T=)
c.26175-16T= (n.26175-16T=)
c.26160-16T= (n.26160-16T=)
c.26148-16T= (n.26148-16T=)
c.26145-16T= (n.26145-16T=)
c.26142-16T= (n.26142-16T=)
c.26242-16T= (n.26242-16T=)
c.26200-16T= (n.26200-16T=)
c.26131-16T= (n.26131-16T=)
c.26298-16T= (n.26298-16T=)
c.26286-16T= (n.26286-16T=)
c.26136-16T= (n.26136-16T=)
c.24576-16T= (n.24576-16T=)
c.24069-16T= (n.24069-16T=)
c.19536-16T= (n.19536-16T=)
c.2701-16T= (n.2701-16T=)
c.26274-16T= (n.26274-16T=)
c.26223-16T= (n.26223-16T=)
c.26187-16T= (n.26187-16T=)
c.26034-16T= (n.26034-16T=)
c.26173-16T= (n.26173-16T=)
c.26128-16T= (n.26128-16T=)
c.26116-16T= (n.26116-16T=)
6g.152122692A>TCA571437296ESR1,SYNE1c.2688-16T>A (n.2688-16T>A)
c.26154-16T>A (n.26154-16T>A)
c.26010-16T>A (n.26010-16T>A)
c.1497-16T>A
c.1872-16T>A
c.1739-16T>A
c.2004-16T>A (n.2004-16T>A)
c.24939-16T>A (n.24939-16T>A)
n.2902-16T>A
c.4930-16T>A (n.4930-16T>A)
n.9846-16T>A
c.4033-16T>A (n.4033-16T>A)
n.9738-16T>A
c.851-2574A>T (n.851-2574A>T)
n.2768-16T>A
n.6791-16T>A
n.2932-16T>A
c.2619-16T>A (n.2619-16T>A)
c.26301-16T>A (n.26301-16T>A)
c.26289-16T>A (n.26289-16T>A)
c.26280-16T>A (n.26280-16T>A)
c.26259-16T>A (n.26259-16T>A)
c.26250-16T>A (n.26250-16T>A)
c.26244-16T>A (n.26244-16T>A)
c.26232-16T>A (n.26232-16T>A)
c.26229-16T>A (n.26229-16T>A)
c.26190-16T>A (n.26190-16T>A)
c.26175-16T>A (n.26175-16T>A)
c.26160-16T>A (n.26160-16T>A)
c.26148-16T>A (n.26148-16T>A)
c.26145-16T>A (n.26145-16T>A)
c.26142-16T>A (n.26142-16T>A)
c.26242-16T>A (n.26242-16T>A)
c.26200-16T>A (n.26200-16T>A)
c.26131-16T>A (n.26131-16T>A)
c.26298-16T>A (n.26298-16T>A)
c.26286-16T>A (n.26286-16T>A)
c.26136-16T>A (n.26136-16T>A)
c.24576-16T>A (n.24576-16T>A)
c.24069-16T>A (n.24069-16T>A)
c.19536-16T>A (n.19536-16T>A)
c.2701-16T>A (n.2701-16T>A)
c.26274-16T>A (n.26274-16T>A)
c.26223-16T>A (n.26223-16T>A)
c.26187-16T>A (n.26187-16T>A)
c.26034-16T>A (n.26034-16T>A)
c.26173-16T>A (n.26173-16T>A)
c.26128-16T>A (n.26128-16T>A)
c.26116-16T>A (n.26116-16T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.152122693C=CA1673189359ESR1,SYNE1c.2688-17G= (n.2688-17G=)
c.26154-17G= (n.26154-17G=)
c.26010-17G= (n.26010-17G=)
c.1497-17G=
c.1872-17G=
c.1739-17G=
c.2004-17G= (n.2004-17G=)
c.24939-17G= (n.24939-17G=)
n.2902-17G=
c.4930-17G= (n.4930-17G=)
n.9846-17G=
c.4033-17G= (n.4033-17G=)
n.9738-17G=
c.851-2573C= (n.851-2573C=)
n.2768-17G=
n.6791-17G=
n.2932-17G=
c.2619-17G= (n.2619-17G=)
c.26301-17G= (n.26301-17G=)
c.26289-17G= (n.26289-17G=)
c.26280-17G= (n.26280-17G=)
c.26259-17G= (n.26259-17G=)
c.26250-17G= (n.26250-17G=)
c.26244-17G= (n.26244-17G=)
c.26232-17G= (n.26232-17G=)
c.26229-17G= (n.26229-17G=)
c.26190-17G= (n.26190-17G=)
c.26175-17G= (n.26175-17G=)
c.26160-17G= (n.26160-17G=)
c.26148-17G= (n.26148-17G=)
c.26145-17G= (n.26145-17G=)
c.26142-17G= (n.26142-17G=)
c.26242-17G= (n.26242-17G=)
c.26200-17G= (n.26200-17G=)
c.26131-17G= (n.26131-17G=)
c.26298-17G= (n.26298-17G=)
c.26286-17G= (n.26286-17G=)
c.26136-17G= (n.26136-17G=)
c.24576-17G= (n.24576-17G=)
c.24069-17G= (n.24069-17G=)
c.19536-17G= (n.19536-17G=)
c.2701-17G= (n.2701-17G=)
c.26274-17G= (n.26274-17G=)
c.26223-17G= (n.26223-17G=)
c.26187-17G= (n.26187-17G=)
c.26034-17G= (n.26034-17G=)
c.26173-17G= (n.26173-17G=)
c.26128-17G= (n.26128-17G=)
c.26116-17G= (n.26116-17G=)
6g.152122693C>TCA571437297ESR1,SYNE1c.2688-17G>A (n.2688-17G>A)
c.26154-17G>A (n.26154-17G>A)
c.26010-17G>A (n.26010-17G>A)
c.1497-17G>A
c.1872-17G>A
c.1739-17G>A
c.2004-17G>A (n.2004-17G>A)
c.24939-17G>A (n.24939-17G>A)
n.2902-17G>A
c.4930-17G>A (n.4930-17G>A)
n.9846-17G>A
c.4033-17G>A (n.4033-17G>A)
n.9738-17G>A
c.851-2573C>T (n.851-2573C>T)
n.2768-17G>A
n.6791-17G>A
n.2932-17G>A
c.2619-17G>A (n.2619-17G>A)
c.26301-17G>A (n.26301-17G>A)
c.26289-17G>A (n.26289-17G>A)
c.26280-17G>A (n.26280-17G>A)
c.26259-17G>A (n.26259-17G>A)
c.26250-17G>A (n.26250-17G>A)
c.26244-17G>A (n.26244-17G>A)
c.26232-17G>A (n.26232-17G>A)
c.26229-17G>A (n.26229-17G>A)
c.26190-17G>A (n.26190-17G>A)
c.26175-17G>A (n.26175-17G>A)
c.26160-17G>A (n.26160-17G>A)
c.26148-17G>A (n.26148-17G>A)
c.26145-17G>A (n.26145-17G>A)
c.26142-17G>A (n.26142-17G>A)
c.26242-17G>A (n.26242-17G>A)
c.26200-17G>A (n.26200-17G>A)
c.26131-17G>A (n.26131-17G>A)
c.26298-17G>A (n.26298-17G>A)
c.26286-17G>A (n.26286-17G>A)
c.26136-17G>A (n.26136-17G>A)
c.24576-17G>A (n.24576-17G>A)
c.24069-17G>A (n.24069-17G>A)
c.19536-17G>A (n.19536-17G>A)
c.2701-17G>A (n.2701-17G>A)
c.26274-17G>A (n.26274-17G>A)
c.26223-17G>A (n.26223-17G>A)
c.26187-17G>A (n.26187-17G>A)
c.26034-17G>A (n.26034-17G>A)
c.26173-17G>A (n.26173-17G>A)
c.26128-17G>A (n.26128-17G>A)
c.26116-17G>A (n.26116-17G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.152122694A>GCA2680809432ESR1,SYNE1c.2688-18T>C (n.2688-18T>C)
c.26154-18T>C (n.26154-18T>C)
c.26010-18T>C (n.26010-18T>C)
c.1497-18T>C
c.1872-18T>C
c.1739-18T>C
c.2004-18T>C (n.2004-18T>C)
c.24939-18T>C (n.24939-18T>C)
n.2902-18T>C
c.4930-18T>C (n.4930-18T>C)
n.9846-18T>C
c.4033-18T>C (n.4033-18T>C)
n.9738-18T>C
c.851-2572A>G (n.851-2572A>G)
n.2768-18T>C
n.6791-18T>C
n.2932-18T>C
c.2619-18T>C (n.2619-18T>C)
c.26301-18T>C (n.26301-18T>C)
c.26289-18T>C (n.26289-18T>C)
c.26280-18T>C (n.26280-18T>C)
c.26259-18T>C (n.26259-18T>C)
c.26250-18T>C (n.26250-18T>C)
c.26244-18T>C (n.26244-18T>C)
c.26232-18T>C (n.26232-18T>C)
c.26229-18T>C (n.26229-18T>C)
c.26190-18T>C (n.26190-18T>C)
c.26175-18T>C (n.26175-18T>C)
c.26160-18T>C (n.26160-18T>C)
c.26148-18T>C (n.26148-18T>C)
c.26145-18T>C (n.26145-18T>C)
c.26142-18T>C (n.26142-18T>C)
c.26242-18T>C (n.26242-18T>C)
c.26200-18T>C (n.26200-18T>C)
c.26131-18T>C (n.26131-18T>C)
c.26298-18T>C (n.26298-18T>C)
c.26286-18T>C (n.26286-18T>C)
c.26136-18T>C (n.26136-18T>C)
c.24576-18T>C (n.24576-18T>C)
c.24069-18T>C (n.24069-18T>C)
c.19536-18T>C (n.19536-18T>C)
c.2701-18T>C (n.2701-18T>C)
c.26274-18T>C (n.26274-18T>C)
c.26223-18T>C (n.26223-18T>C)
c.26187-18T>C (n.26187-18T>C)
c.26034-18T>C (n.26034-18T>C)
c.26173-18T>C (n.26173-18T>C)
c.26128-18T>C (n.26128-18T>C)
c.26116-18T>C (n.26116-18T>C)
 gnomAD v4
6g.152122697A>TCA2578773006ESR1,SYNE1c.2688-21T>A (n.2688-21T>A)
c.26154-21T>A (n.26154-21T>A)
c.26010-21T>A (n.26010-21T>A)
c.1497-21T>A
c.1872-21T>A
c.1739-21T>A
c.2004-21T>A (n.2004-21T>A)
c.24939-21T>A (n.24939-21T>A)
n.2902-21T>A
c.4930-21T>A (n.4930-21T>A)
n.9846-21T>A
c.4033-21T>A (n.4033-21T>A)
n.9738-21T>A
c.851-2569A>T (n.851-2569A>T)
n.2768-21T>A
n.6791-21T>A
n.2932-21T>A
c.2619-21T>A (n.2619-21T>A)
c.26301-21T>A (n.26301-21T>A)
c.26289-21T>A (n.26289-21T>A)
c.26280-21T>A (n.26280-21T>A)
c.26259-21T>A (n.26259-21T>A)
c.26250-21T>A (n.26250-21T>A)
c.26244-21T>A (n.26244-21T>A)
c.26232-21T>A (n.26232-21T>A)
c.26229-21T>A (n.26229-21T>A)
c.26190-21T>A (n.26190-21T>A)
c.26175-21T>A (n.26175-21T>A)
c.26160-21T>A (n.26160-21T>A)
c.26148-21T>A (n.26148-21T>A)
c.26145-21T>A (n.26145-21T>A)
c.26142-21T>A (n.26142-21T>A)
c.26242-21T>A (n.26242-21T>A)
c.26200-21T>A (n.26200-21T>A)
c.26131-21T>A (n.26131-21T>A)
c.26298-21T>A (n.26298-21T>A)
c.26286-21T>A (n.26286-21T>A)
c.26136-21T>A (n.26136-21T>A)
c.24576-21T>A (n.24576-21T>A)
c.24069-21T>A (n.24069-21T>A)
c.19536-21T>A (n.19536-21T>A)
c.2701-21T>A (n.2701-21T>A)
c.26274-21T>A (n.26274-21T>A)
c.26223-21T>A (n.26223-21T>A)
c.26187-21T>A (n.26187-21T>A)
c.26034-21T>A (n.26034-21T>A)
c.26173-21T>A (n.26173-21T>A)
c.26128-21T>A (n.26128-21T>A)
c.26116-21T>A (n.26116-21T>A)
 gnomAD v4
6g.152122698A=CA1673189361ESR1,SYNE1c.2688-22T= (n.2688-22T=)
c.26154-22T= (n.26154-22T=)
c.26010-22T= (n.26010-22T=)
c.1497-22T=
c.1872-22T=
c.1739-22T=
c.2004-22T= (n.2004-22T=)
c.24939-22T= (n.24939-22T=)
n.2902-22T=
c.4930-22T= (n.4930-22T=)
n.9846-22T=
c.4033-22T= (n.4033-22T=)
n.9738-22T=
c.851-2568A= (n.851-2568A=)
n.2768-22T=
n.6791-22T=
n.2932-22T=
c.2619-22T= (n.2619-22T=)
c.26301-22T= (n.26301-22T=)
c.26289-22T= (n.26289-22T=)
c.26280-22T= (n.26280-22T=)
c.26259-22T= (n.26259-22T=)
c.26250-22T= (n.26250-22T=)
c.26244-22T= (n.26244-22T=)
c.26232-22T= (n.26232-22T=)
c.26229-22T= (n.26229-22T=)
c.26190-22T= (n.26190-22T=)
c.26175-22T= (n.26175-22T=)
c.26160-22T= (n.26160-22T=)
c.26148-22T= (n.26148-22T=)
c.26145-22T= (n.26145-22T=)
c.26142-22T= (n.26142-22T=)
c.26242-22T= (n.26242-22T=)
c.26200-22T= (n.26200-22T=)
c.26131-22T= (n.26131-22T=)
c.26298-22T= (n.26298-22T=)
c.26286-22T= (n.26286-22T=)
c.26136-22T= (n.26136-22T=)
c.24576-22T= (n.24576-22T=)
c.24069-22T= (n.24069-22T=)
c.19536-22T= (n.19536-22T=)
c.2701-22T= (n.2701-22T=)
c.26274-22T= (n.26274-22T=)
c.26223-22T= (n.26223-22T=)
c.26187-22T= (n.26187-22T=)
c.26034-22T= (n.26034-22T=)
c.26173-22T= (n.26173-22T=)
c.26128-22T= (n.26128-22T=)
c.26116-22T= (n.26116-22T=)
6g.152122698A>GCA820881547ESR1,SYNE1c.2688-22T>C (n.2688-22T>C)
c.26154-22T>C (n.26154-22T>C)
c.26010-22T>C (n.26010-22T>C)
c.1497-22T>C
c.1872-22T>C
c.1739-22T>C
c.2004-22T>C (n.2004-22T>C)
c.24939-22T>C (n.24939-22T>C)
n.2902-22T>C
c.4930-22T>C (n.4930-22T>C)
n.9846-22T>C
c.4033-22T>C (n.4033-22T>C)
n.9738-22T>C
c.851-2568A>G (n.851-2568A>G)
n.2768-22T>C
n.6791-22T>C
n.2932-22T>C
c.2619-22T>C (n.2619-22T>C)
c.26301-22T>C (n.26301-22T>C)
c.26289-22T>C (n.26289-22T>C)
c.26280-22T>C (n.26280-22T>C)
c.26259-22T>C (n.26259-22T>C)
c.26250-22T>C (n.26250-22T>C)
c.26244-22T>C (n.26244-22T>C)
c.26232-22T>C (n.26232-22T>C)
c.26229-22T>C (n.26229-22T>C)
c.26190-22T>C (n.26190-22T>C)
c.26175-22T>C (n.26175-22T>C)
c.26160-22T>C (n.26160-22T>C)
c.26148-22T>C (n.26148-22T>C)
c.26145-22T>C (n.26145-22T>C)
c.26142-22T>C (n.26142-22T>C)
c.26242-22T>C (n.26242-22T>C)
c.26200-22T>C (n.26200-22T>C)
c.26131-22T>C (n.26131-22T>C)
c.26298-22T>C (n.26298-22T>C)
c.26286-22T>C (n.26286-22T>C)
c.26136-22T>C (n.26136-22T>C)
c.24576-22T>C (n.24576-22T>C)
c.24069-22T>C (n.24069-22T>C)
c.19536-22T>C (n.19536-22T>C)
c.2701-22T>C (n.2701-22T>C)
c.26274-22T>C (n.26274-22T>C)
c.26223-22T>C (n.26223-22T>C)
c.26187-22T>C (n.26187-22T>C)
c.26034-22T>C (n.26034-22T>C)
c.26173-22T>C (n.26173-22T>C)
c.26128-22T>C (n.26128-22T>C)
c.26116-22T>C (n.26116-22T>C)
 dbSNP gnomAD v4
6g.152122704C=CA1673189363ESR1,SYNE1c.2688-28G= (n.2688-28G=)
c.26154-28G= (n.26154-28G=)
c.26010-28G= (n.26010-28G=)
c.1497-28G=
c.1872-28G=
c.1739-28G=
c.2004-28G= (n.2004-28G=)
c.24939-28G= (n.24939-28G=)
n.2902-28G=
c.4930-28G= (n.4930-28G=)
n.9846-28G=
c.4033-28G= (n.4033-28G=)
n.9738-28G=
c.851-2562C= (n.851-2562C=)
n.2768-28G=
n.6791-28G=
n.2932-28G=
c.2619-28G= (n.2619-28G=)
c.26301-28G= (n.26301-28G=)
c.26289-28G= (n.26289-28G=)
c.26280-28G= (n.26280-28G=)
c.26259-28G= (n.26259-28G=)
c.26250-28G= (n.26250-28G=)
c.26244-28G= (n.26244-28G=)
c.26232-28G= (n.26232-28G=)
c.26229-28G= (n.26229-28G=)
c.26190-28G= (n.26190-28G=)
c.26175-28G= (n.26175-28G=)
c.26160-28G= (n.26160-28G=)
c.26148-28G= (n.26148-28G=)
c.26145-28G= (n.26145-28G=)
c.26142-28G= (n.26142-28G=)
c.26242-28G= (n.26242-28G=)
c.26200-28G= (n.26200-28G=)
c.26131-28G= (n.26131-28G=)
c.26298-28G= (n.26298-28G=)
c.26286-28G= (n.26286-28G=)
c.26136-28G= (n.26136-28G=)
c.24576-28G= (n.24576-28G=)
c.24069-28G= (n.24069-28G=)
c.19536-28G= (n.19536-28G=)
c.2701-28G= (n.2701-28G=)
c.26274-28G= (n.26274-28G=)
c.26223-28G= (n.26223-28G=)
c.26187-28G= (n.26187-28G=)
c.26034-28G= (n.26034-28G=)
c.26173-28G= (n.26173-28G=)
c.26128-28G= (n.26128-28G=)
c.26116-28G= (n.26116-28G=)
6g.152122704C>TCA1095927149ESR1,SYNE1c.2688-28G>A (n.2688-28G>A)
c.26154-28G>A (n.26154-28G>A)
c.26010-28G>A (n.26010-28G>A)
c.1497-28G>A
c.1872-28G>A
c.1739-28G>A
c.2004-28G>A (n.2004-28G>A)
c.24939-28G>A (n.24939-28G>A)
n.2902-28G>A
c.4930-28G>A (n.4930-28G>A)
n.9846-28G>A
c.4033-28G>A (n.4033-28G>A)
n.9738-28G>A
c.851-2562C>T (n.851-2562C>T)
n.2768-28G>A
n.6791-28G>A
n.2932-28G>A
c.2619-28G>A (n.2619-28G>A)
c.26301-28G>A (n.26301-28G>A)
c.26289-28G>A (n.26289-28G>A)
c.26280-28G>A (n.26280-28G>A)
c.26259-28G>A (n.26259-28G>A)
c.26250-28G>A (n.26250-28G>A)
c.26244-28G>A (n.26244-28G>A)
c.26232-28G>A (n.26232-28G>A)
c.26229-28G>A (n.26229-28G>A)
c.26190-28G>A (n.26190-28G>A)
c.26175-28G>A (n.26175-28G>A)
c.26160-28G>A (n.26160-28G>A)
c.26148-28G>A (n.26148-28G>A)
c.26145-28G>A (n.26145-28G>A)
c.26142-28G>A (n.26142-28G>A)
c.26242-28G>A (n.26242-28G>A)
c.26200-28G>A (n.26200-28G>A)
c.26131-28G>A (n.26131-28G>A)
c.26298-28G>A (n.26298-28G>A)
c.26286-28G>A (n.26286-28G>A)
c.26136-28G>A (n.26136-28G>A)
c.24576-28G>A (n.24576-28G>A)
c.24069-28G>A (n.24069-28G>A)
c.19536-28G>A (n.19536-28G>A)
c.2701-28G>A (n.2701-28G>A)
c.26274-28G>A (n.26274-28G>A)
c.26223-28G>A (n.26223-28G>A)
c.26187-28G>A (n.26187-28G>A)
c.26034-28G>A (n.26034-28G>A)
c.26173-28G>A (n.26173-28G>A)
c.26128-28G>A (n.26128-28G>A)
c.26116-28G>A (n.26116-28G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.152122705A=CA1673189367ESR1,SYNE1c.2688-29T= (n.2688-29T=)
c.26154-29T= (n.26154-29T=)
c.26010-29T= (n.26010-29T=)
c.1497-29T=
c.1872-29T=
c.1739-29T=
c.2004-29T= (n.2004-29T=)
c.24939-29T= (n.24939-29T=)
n.2902-29T=
c.4930-29T= (n.4930-29T=)
n.9846-29T=
c.4033-29T= (n.4033-29T=)
n.9738-29T=
c.851-2561A= (n.851-2561A=)
n.2768-29T=
n.6791-29T=
n.2932-29T=
c.2619-29T= (n.2619-29T=)
c.26301-29T= (n.26301-29T=)
c.26289-29T= (n.26289-29T=)
c.26280-29T= (n.26280-29T=)
c.26259-29T= (n.26259-29T=)
c.26250-29T= (n.26250-29T=)
c.26244-29T= (n.26244-29T=)
c.26232-29T= (n.26232-29T=)
c.26229-29T= (n.26229-29T=)
c.26190-29T= (n.26190-29T=)
c.26175-29T= (n.26175-29T=)
c.26160-29T= (n.26160-29T=)
c.26148-29T= (n.26148-29T=)
c.26145-29T= (n.26145-29T=)
c.26142-29T= (n.26142-29T=)
c.26242-29T= (n.26242-29T=)
c.26200-29T= (n.26200-29T=)
c.26131-29T= (n.26131-29T=)
c.26298-29T= (n.26298-29T=)
c.26286-29T= (n.26286-29T=)
c.26136-29T= (n.26136-29T=)
c.24576-29T= (n.24576-29T=)
c.24069-29T= (n.24069-29T=)
c.19536-29T= (n.19536-29T=)
c.2701-29T= (n.2701-29T=)
c.26274-29T= (n.26274-29T=)
c.26223-29T= (n.26223-29T=)
c.26187-29T= (n.26187-29T=)
c.26034-29T= (n.26034-29T=)
c.26173-29T= (n.26173-29T=)
c.26128-29T= (n.26128-29T=)
c.26116-29T= (n.26116-29T=)
6g.152122705A>GCA4052620ESR1,SYNE1c.2688-29T>C (n.2688-29T>C)
c.26154-29T>C (n.26154-29T>C)
c.26010-29T>C (n.26010-29T>C)
c.1497-29T>C
c.1872-29T>C
c.1739-29T>C
c.2004-29T>C (n.2004-29T>C)
c.24939-29T>C (n.24939-29T>C)
n.2902-29T>C
c.4930-29T>C (n.4930-29T>C)
n.9846-29T>C
c.4033-29T>C (n.4033-29T>C)
n.9738-29T>C
c.851-2561A>G (n.851-2561A>G)
n.2768-29T>C
n.6791-29T>C
n.2932-29T>C
c.2619-29T>C (n.2619-29T>C)
c.26301-29T>C (n.26301-29T>C)
c.26289-29T>C (n.26289-29T>C)
c.26280-29T>C (n.26280-29T>C)
c.26259-29T>C (n.26259-29T>C)
c.26250-29T>C (n.26250-29T>C)
c.26244-29T>C (n.26244-29T>C)
c.26232-29T>C (n.26232-29T>C)
c.26229-29T>C (n.26229-29T>C)
c.26190-29T>C (n.26190-29T>C)
c.26175-29T>C (n.26175-29T>C)
c.26160-29T>C (n.26160-29T>C)
c.26148-29T>C (n.26148-29T>C)
c.26145-29T>C (n.26145-29T>C)
c.26142-29T>C (n.26142-29T>C)
c.26242-29T>C (n.26242-29T>C)
c.26200-29T>C (n.26200-29T>C)
c.26131-29T>C (n.26131-29T>C)
c.26298-29T>C (n.26298-29T>C)
c.26286-29T>C (n.26286-29T>C)
c.26136-29T>C (n.26136-29T>C)
c.24576-29T>C (n.24576-29T>C)
c.24069-29T>C (n.24069-29T>C)
c.19536-29T>C (n.19536-29T>C)
c.2701-29T>C (n.2701-29T>C)
c.26274-29T>C (n.26274-29T>C)
c.26223-29T>C (n.26223-29T>C)
c.26187-29T>C (n.26187-29T>C)
c.26034-29T>C (n.26034-29T>C)
c.26173-29T>C (n.26173-29T>C)
c.26128-29T>C (n.26128-29T>C)
c.26116-29T>C (n.26116-29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122708T>ACA2773582834ESR1,SYNE1c.2688-32A>T (n.2688-32A>T)
c.26154-32A>T (n.26154-32A>T)
c.26010-32A>T (n.26010-32A>T)
c.1497-32A>T
c.1872-32A>T
c.1739-32A>T
c.2004-32A>T (n.2004-32A>T)
c.24939-32A>T (n.24939-32A>T)
n.2902-32A>T
c.4930-32A>T (n.4930-32A>T)
n.9846-32A>T
c.4033-32A>T (n.4033-32A>T)
n.9738-32A>T
c.851-2558T>A (n.851-2558T>A)
n.2768-32A>T
n.6791-32A>T
n.2932-32A>T
c.2619-32A>T (n.2619-32A>T)
c.26301-32A>T (n.26301-32A>T)
c.26289-32A>T (n.26289-32A>T)
c.26280-32A>T (n.26280-32A>T)
c.26259-32A>T (n.26259-32A>T)
c.26250-32A>T (n.26250-32A>T)
c.26244-32A>T (n.26244-32A>T)
c.26232-32A>T (n.26232-32A>T)
c.26229-32A>T (n.26229-32A>T)
c.26190-32A>T (n.26190-32A>T)
c.26175-32A>T (n.26175-32A>T)
c.26160-32A>T (n.26160-32A>T)
c.26148-32A>T (n.26148-32A>T)
c.26145-32A>T (n.26145-32A>T)
c.26142-32A>T (n.26142-32A>T)
c.26242-32A>T (n.26242-32A>T)
c.26200-32A>T (n.26200-32A>T)
c.26131-32A>T (n.26131-32A>T)
c.26298-32A>T (n.26298-32A>T)
c.26286-32A>T (n.26286-32A>T)
c.26136-32A>T (n.26136-32A>T)
c.24576-32A>T (n.24576-32A>T)
c.24069-32A>T (n.24069-32A>T)
c.19536-32A>T (n.19536-32A>T)
c.2701-32A>T (n.2701-32A>T)
c.26274-32A>T (n.26274-32A>T)
c.26223-32A>T (n.26223-32A>T)
c.26187-32A>T (n.26187-32A>T)
c.26034-32A>T (n.26034-32A>T)
c.26173-32A>T (n.26173-32A>T)
c.26128-32A>T (n.26128-32A>T)
c.26116-32A>T (n.26116-32A>T)
6g.152122711C=CA1673189377ESR1,SYNE1c.2688-35G= (n.2688-35G=)
c.26154-35G= (n.26154-35G=)
c.26010-35G= (n.26010-35G=)
c.1497-35G=
c.1872-35G=
c.1739-35G=
c.2004-35G= (n.2004-35G=)
c.24939-35G= (n.24939-35G=)
n.2902-35G=
c.4930-35G= (n.4930-35G=)
n.9846-35G=
c.4033-35G= (n.4033-35G=)
n.9738-35G=
c.851-2555C= (n.851-2555C=)
n.2768-35G=
n.6791-35G=
n.2932-35G=
c.2619-35G= (n.2619-35G=)
c.26301-35G= (n.26301-35G=)
c.26289-35G= (n.26289-35G=)
c.26280-35G= (n.26280-35G=)
c.26259-35G= (n.26259-35G=)
c.26250-35G= (n.26250-35G=)
c.26244-35G= (n.26244-35G=)
c.26232-35G= (n.26232-35G=)
c.26229-35G= (n.26229-35G=)
c.26190-35G= (n.26190-35G=)
c.26175-35G= (n.26175-35G=)
c.26160-35G= (n.26160-35G=)
c.26148-35G= (n.26148-35G=)
c.26145-35G= (n.26145-35G=)
c.26142-35G= (n.26142-35G=)
c.26242-35G= (n.26242-35G=)
c.26200-35G= (n.26200-35G=)
c.26131-35G= (n.26131-35G=)
c.26298-35G= (n.26298-35G=)
c.26286-35G= (n.26286-35G=)
c.26136-35G= (n.26136-35G=)
c.24576-35G= (n.24576-35G=)
c.24069-35G= (n.24069-35G=)
c.19536-35G= (n.19536-35G=)
c.2701-35G= (n.2701-35G=)
c.26274-35G= (n.26274-35G=)
c.26223-35G= (n.26223-35G=)
c.26187-35G= (n.26187-35G=)
c.26034-35G= (n.26034-35G=)
c.26173-35G= (n.26173-35G=)
c.26128-35G= (n.26128-35G=)
c.26116-35G= (n.26116-35G=)
6g.152122711C>TCA1095927150ESR1,SYNE1c.2688-35G>A (n.2688-35G>A)
c.26154-35G>A (n.26154-35G>A)
c.26010-35G>A (n.26010-35G>A)
c.1497-35G>A
c.1872-35G>A
c.1739-35G>A
c.2004-35G>A (n.2004-35G>A)
c.24939-35G>A (n.24939-35G>A)
n.2902-35G>A
c.4930-35G>A (n.4930-35G>A)
n.9846-35G>A
c.4033-35G>A (n.4033-35G>A)
n.9738-35G>A
c.851-2555C>T (n.851-2555C>T)
n.2768-35G>A
n.6791-35G>A
n.2932-35G>A
c.2619-35G>A (n.2619-35G>A)
c.26301-35G>A (n.26301-35G>A)
c.26289-35G>A (n.26289-35G>A)
c.26280-35G>A (n.26280-35G>A)
c.26259-35G>A (n.26259-35G>A)
c.26250-35G>A (n.26250-35G>A)
c.26244-35G>A (n.26244-35G>A)
c.26232-35G>A (n.26232-35G>A)
c.26229-35G>A (n.26229-35G>A)
c.26190-35G>A (n.26190-35G>A)
c.26175-35G>A (n.26175-35G>A)
c.26160-35G>A (n.26160-35G>A)
c.26148-35G>A (n.26148-35G>A)
c.26145-35G>A (n.26145-35G>A)
c.26142-35G>A (n.26142-35G>A)
c.26242-35G>A (n.26242-35G>A)
c.26200-35G>A (n.26200-35G>A)
c.26131-35G>A (n.26131-35G>A)
c.26298-35G>A (n.26298-35G>A)
c.26286-35G>A (n.26286-35G>A)
c.26136-35G>A (n.26136-35G>A)
c.24576-35G>A (n.24576-35G>A)
c.24069-35G>A (n.24069-35G>A)
c.19536-35G>A (n.19536-35G>A)
c.2701-35G>A (n.2701-35G>A)
c.26274-35G>A (n.26274-35G>A)
c.26223-35G>A (n.26223-35G>A)
c.26187-35G>A (n.26187-35G>A)
c.26034-35G>A (n.26034-35G>A)
c.26173-35G>A (n.26173-35G>A)
c.26128-35G>A (n.26128-35G>A)
c.26116-35G>A (n.26116-35G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.152122712T>GCA2680809433ESR1,SYNE1c.2688-36A>C (n.2688-36A>C)
c.26154-36A>C (n.26154-36A>C)
c.26010-36A>C (n.26010-36A>C)
c.1497-36A>C
c.1872-36A>C
c.1739-36A>C
c.2004-36A>C (n.2004-36A>C)
c.24939-36A>C (n.24939-36A>C)
n.2902-36A>C
c.4930-36A>C (n.4930-36A>C)
n.9846-36A>C
c.4033-36A>C (n.4033-36A>C)
n.9738-36A>C
c.851-2554T>G (n.851-2554T>G)
n.2768-36A>C
n.6791-36A>C
n.2932-36A>C
c.2619-36A>C (n.2619-36A>C)
c.26301-36A>C (n.26301-36A>C)
c.26289-36A>C (n.26289-36A>C)
c.26280-36A>C (n.26280-36A>C)
c.26259-36A>C (n.26259-36A>C)
c.26250-36A>C (n.26250-36A>C)
c.26244-36A>C (n.26244-36A>C)
c.26232-36A>C (n.26232-36A>C)
c.26229-36A>C (n.26229-36A>C)
c.26190-36A>C (n.26190-36A>C)
c.26175-36A>C (n.26175-36A>C)
c.26160-36A>C (n.26160-36A>C)
c.26148-36A>C (n.26148-36A>C)
c.26145-36A>C (n.26145-36A>C)
c.26142-36A>C (n.26142-36A>C)
c.26242-36A>C (n.26242-36A>C)
c.26200-36A>C (n.26200-36A>C)
c.26131-36A>C (n.26131-36A>C)
c.26298-36A>C (n.26298-36A>C)
c.26286-36A>C (n.26286-36A>C)
c.26136-36A>C (n.26136-36A>C)
c.24576-36A>C (n.24576-36A>C)
c.24069-36A>C (n.24069-36A>C)
c.19536-36A>C (n.19536-36A>C)
c.2701-36A>C (n.2701-36A>C)
c.26274-36A>C (n.26274-36A>C)
c.26223-36A>C (n.26223-36A>C)
c.26187-36A>C (n.26187-36A>C)
c.26034-36A>C (n.26034-36A>C)
c.26173-36A>C (n.26173-36A>C)
c.26128-36A>C (n.26128-36A>C)
c.26116-36A>C (n.26116-36A>C)
 gnomAD v4
6g.152122713C>ACA2578773007ESR1,SYNE1c.2688-37G>T (n.2688-37G>T)
c.26154-37G>T (n.26154-37G>T)
c.26010-37G>T (n.26010-37G>T)
c.1497-37G>T
c.1872-37G>T
c.1739-37G>T
c.2004-37G>T (n.2004-37G>T)
c.24939-37G>T (n.24939-37G>T)
n.2902-37G>T
c.4930-37G>T (n.4930-37G>T)
n.9846-37G>T
c.4033-37G>T (n.4033-37G>T)
n.9738-37G>T
c.851-2553C>A (n.851-2553C>A)
n.2768-37G>T
n.6791-37G>T
n.2932-37G>T
c.2619-37G>T (n.2619-37G>T)
c.26301-37G>T (n.26301-37G>T)
c.26289-37G>T (n.26289-37G>T)
c.26280-37G>T (n.26280-37G>T)
c.26259-37G>T (n.26259-37G>T)
c.26250-37G>T (n.26250-37G>T)
c.26244-37G>T (n.26244-37G>T)
c.26232-37G>T (n.26232-37G>T)
c.26229-37G>T (n.26229-37G>T)
c.26190-37G>T (n.26190-37G>T)
c.26175-37G>T (n.26175-37G>T)
c.26160-37G>T (n.26160-37G>T)
c.26148-37G>T (n.26148-37G>T)
c.26145-37G>T (n.26145-37G>T)
c.26142-37G>T (n.26142-37G>T)
c.26242-37G>T (n.26242-37G>T)
c.26200-37G>T (n.26200-37G>T)
c.26131-37G>T (n.26131-37G>T)
c.26298-37G>T (n.26298-37G>T)
c.26286-37G>T (n.26286-37G>T)
c.26136-37G>T (n.26136-37G>T)
c.24576-37G>T (n.24576-37G>T)
c.24069-37G>T (n.24069-37G>T)
c.19536-37G>T (n.19536-37G>T)
c.2701-37G>T (n.2701-37G>T)
c.26274-37G>T (n.26274-37G>T)
c.26223-37G>T (n.26223-37G>T)
c.26187-37G>T (n.26187-37G>T)
c.26034-37G>T (n.26034-37G>T)
c.26173-37G>T (n.26173-37G>T)
c.26128-37G>T (n.26128-37G>T)
c.26116-37G>T (n.26116-37G>T)
 gnomAD v4
6g.152122713C=CA1673189380ESR1,SYNE1c.2688-37G= (n.2688-37G=)
c.26154-37G= (n.26154-37G=)
c.26010-37G= (n.26010-37G=)
c.1497-37G=
c.1872-37G=
c.1739-37G=
c.2004-37G= (n.2004-37G=)
c.24939-37G= (n.24939-37G=)
n.2902-37G=
c.4930-37G= (n.4930-37G=)
n.9846-37G=
c.4033-37G= (n.4033-37G=)
n.9738-37G=
c.851-2553C= (n.851-2553C=)
n.2768-37G=
n.6791-37G=
n.2932-37G=
c.2619-37G= (n.2619-37G=)
c.26301-37G= (n.26301-37G=)
c.26289-37G= (n.26289-37G=)
c.26280-37G= (n.26280-37G=)
c.26259-37G= (n.26259-37G=)
c.26250-37G= (n.26250-37G=)
c.26244-37G= (n.26244-37G=)
c.26232-37G= (n.26232-37G=)
c.26229-37G= (n.26229-37G=)
c.26190-37G= (n.26190-37G=)
c.26175-37G= (n.26175-37G=)
c.26160-37G= (n.26160-37G=)
c.26148-37G= (n.26148-37G=)
c.26145-37G= (n.26145-37G=)
c.26142-37G= (n.26142-37G=)
c.26242-37G= (n.26242-37G=)
c.26200-37G= (n.26200-37G=)
c.26131-37G= (n.26131-37G=)
c.26298-37G= (n.26298-37G=)
c.26286-37G= (n.26286-37G=)
c.26136-37G= (n.26136-37G=)
c.24576-37G= (n.24576-37G=)
c.24069-37G= (n.24069-37G=)
c.19536-37G= (n.19536-37G=)
c.2701-37G= (n.2701-37G=)
c.26274-37G= (n.26274-37G=)
c.26223-37G= (n.26223-37G=)
c.26187-37G= (n.26187-37G=)
c.26034-37G= (n.26034-37G=)
c.26173-37G= (n.26173-37G=)
c.26128-37G= (n.26128-37G=)
c.26116-37G= (n.26116-37G=)
6g.152122713C>TCA571437298ESR1,SYNE1c.2688-37G>A (n.2688-37G>A)
c.26154-37G>A (n.26154-37G>A)
c.26010-37G>A (n.26010-37G>A)
c.1497-37G>A
c.1872-37G>A
c.1739-37G>A
c.2004-37G>A (n.2004-37G>A)
c.24939-37G>A (n.24939-37G>A)
n.2902-37G>A
c.4930-37G>A (n.4930-37G>A)
n.9846-37G>A
c.4033-37G>A (n.4033-37G>A)
n.9738-37G>A
c.851-2553C>T (n.851-2553C>T)
n.2768-37G>A
n.6791-37G>A
n.2932-37G>A
c.2619-37G>A (n.2619-37G>A)
c.26301-37G>A (n.26301-37G>A)
c.26289-37G>A (n.26289-37G>A)
c.26280-37G>A (n.26280-37G>A)
c.26259-37G>A (n.26259-37G>A)
c.26250-37G>A (n.26250-37G>A)
c.26244-37G>A (n.26244-37G>A)
c.26232-37G>A (n.26232-37G>A)
c.26229-37G>A (n.26229-37G>A)
c.26190-37G>A (n.26190-37G>A)
c.26175-37G>A (n.26175-37G>A)
c.26160-37G>A (n.26160-37G>A)
c.26148-37G>A (n.26148-37G>A)
c.26145-37G>A (n.26145-37G>A)
c.26142-37G>A (n.26142-37G>A)
c.26242-37G>A (n.26242-37G>A)
c.26200-37G>A (n.26200-37G>A)
c.26131-37G>A (n.26131-37G>A)
c.26298-37G>A (n.26298-37G>A)
c.26286-37G>A (n.26286-37G>A)
c.26136-37G>A (n.26136-37G>A)
c.24576-37G>A (n.24576-37G>A)
c.24069-37G>A (n.24069-37G>A)
c.19536-37G>A (n.19536-37G>A)
c.2701-37G>A (n.2701-37G>A)
c.26274-37G>A (n.26274-37G>A)
c.26223-37G>A (n.26223-37G>A)
c.26187-37G>A (n.26187-37G>A)
c.26034-37G>A (n.26034-37G>A)
c.26173-37G>A (n.26173-37G>A)
c.26128-37G>A (n.26128-37G>A)
c.26116-37G>A (n.26116-37G>A)
 dbSNP gnomAD v2
6g.152122716G>CCA2680809434ESR1,SYNE1c.2688-40C>G (n.2688-40C>G)
c.26154-40C>G (n.26154-40C>G)
c.26010-40C>G (n.26010-40C>G)
c.1497-40C>G
c.1872-40C>G
c.1739-40C>G
c.2004-40C>G (n.2004-40C>G)
c.24939-40C>G (n.24939-40C>G)
n.2902-40C>G
c.4930-40C>G (n.4930-40C>G)
n.9846-40C>G
c.4033-40C>G (n.4033-40C>G)
n.9738-40C>G
c.851-2550G>C (n.851-2550G>C)
n.2768-40C>G
n.6791-40C>G
n.2932-40C>G
c.2619-40C>G (n.2619-40C>G)
c.26301-40C>G (n.26301-40C>G)
c.26289-40C>G (n.26289-40C>G)
c.26280-40C>G (n.26280-40C>G)
c.26259-40C>G (n.26259-40C>G)
c.26250-40C>G (n.26250-40C>G)
c.26244-40C>G (n.26244-40C>G)
c.26232-40C>G (n.26232-40C>G)
c.26229-40C>G (n.26229-40C>G)
c.26190-40C>G (n.26190-40C>G)
c.26175-40C>G (n.26175-40C>G)
c.26160-40C>G (n.26160-40C>G)
c.26148-40C>G (n.26148-40C>G)
c.26145-40C>G (n.26145-40C>G)
c.26142-40C>G (n.26142-40C>G)
c.26242-40C>G (n.26242-40C>G)
c.26200-40C>G (n.26200-40C>G)
c.26131-40C>G (n.26131-40C>G)
c.26298-40C>G (n.26298-40C>G)
c.26286-40C>G (n.26286-40C>G)
c.26136-40C>G (n.26136-40C>G)
c.24576-40C>G (n.24576-40C>G)
c.24069-40C>G (n.24069-40C>G)
c.19536-40C>G (n.19536-40C>G)
c.2701-40C>G (n.2701-40C>G)
c.26274-40C>G (n.26274-40C>G)
c.26223-40C>G (n.26223-40C>G)
c.26187-40C>G (n.26187-40C>G)
c.26034-40C>G (n.26034-40C>G)
c.26173-40C>G (n.26173-40C>G)
c.26128-40C>G (n.26128-40C>G)
c.26116-40C>G (n.26116-40C>G)
 gnomAD v4
6g.152122717T>CCA2680809435ESR1,SYNE1c.2688-41A>G (n.2688-41A>G)
c.26154-41A>G (n.26154-41A>G)
c.26010-41A>G (n.26010-41A>G)
c.1497-41A>G
c.1872-41A>G
c.1739-41A>G
c.2004-41A>G (n.2004-41A>G)
c.24939-41A>G (n.24939-41A>G)
n.2902-41A>G
c.4930-41A>G (n.4930-41A>G)
n.9846-41A>G
c.4033-41A>G (n.4033-41A>G)
n.9738-41A>G
c.851-2549T>C (n.851-2549T>C)
n.2768-41A>G
n.6791-41A>G
n.2932-41A>G
c.2619-41A>G (n.2619-41A>G)
c.26301-41A>G (n.26301-41A>G)
c.26289-41A>G (n.26289-41A>G)
c.26280-41A>G (n.26280-41A>G)
c.26259-41A>G (n.26259-41A>G)
c.26250-41A>G (n.26250-41A>G)
c.26244-41A>G (n.26244-41A>G)
c.26232-41A>G (n.26232-41A>G)
c.26229-41A>G (n.26229-41A>G)
c.26190-41A>G (n.26190-41A>G)
c.26175-41A>G (n.26175-41A>G)
c.26160-41A>G (n.26160-41A>G)
c.26148-41A>G (n.26148-41A>G)
c.26145-41A>G (n.26145-41A>G)
c.26142-41A>G (n.26142-41A>G)
c.26242-41A>G (n.26242-41A>G)
c.26200-41A>G (n.26200-41A>G)
c.26131-41A>G (n.26131-41A>G)
c.26298-41A>G (n.26298-41A>G)
c.26286-41A>G (n.26286-41A>G)
c.26136-41A>G (n.26136-41A>G)
c.24576-41A>G (n.24576-41A>G)
c.24069-41A>G (n.24069-41A>G)
c.19536-41A>G (n.19536-41A>G)
c.2701-41A>G (n.2701-41A>G)
c.26274-41A>G (n.26274-41A>G)
c.26223-41A>G (n.26223-41A>G)
c.26187-41A>G (n.26187-41A>G)
c.26034-41A>G (n.26034-41A>G)
c.26173-41A>G (n.26173-41A>G)
c.26128-41A>G (n.26128-41A>G)
c.26116-41A>G (n.26116-41A>G)
 gnomAD v4
6g.152122718G>ACA4052621ESR1,SYNE1c.2688-42C>T (n.2688-42C>T)
c.26154-42C>T (n.26154-42C>T)
c.26010-42C>T (n.26010-42C>T)
c.1497-42C>T
c.1872-42C>T
c.1739-42C>T
c.2004-42C>T (n.2004-42C>T)
c.24939-42C>T (n.24939-42C>T)
n.2902-42C>T
c.4930-42C>T (n.4930-42C>T)
n.9846-42C>T
c.4033-42C>T (n.4033-42C>T)
n.9738-42C>T
c.851-2548G>A (n.851-2548G>A)
n.2768-42C>T
n.6791-42C>T
n.2932-42C>T
c.2619-42C>T (n.2619-42C>T)
c.26301-42C>T (n.26301-42C>T)
c.26289-42C>T (n.26289-42C>T)
c.26280-42C>T (n.26280-42C>T)
c.26259-42C>T (n.26259-42C>T)
c.26250-42C>T (n.26250-42C>T)
c.26244-42C>T (n.26244-42C>T)
c.26232-42C>T (n.26232-42C>T)
c.26229-42C>T (n.26229-42C>T)
c.26190-42C>T (n.26190-42C>T)
c.26175-42C>T (n.26175-42C>T)
c.26160-42C>T (n.26160-42C>T)
c.26148-42C>T (n.26148-42C>T)
c.26145-42C>T (n.26145-42C>T)
c.26142-42C>T (n.26142-42C>T)
c.26242-42C>T (n.26242-42C>T)
c.26200-42C>T (n.26200-42C>T)
c.26131-42C>T (n.26131-42C>T)
c.26298-42C>T (n.26298-42C>T)
c.26286-42C>T (n.26286-42C>T)
c.26136-42C>T (n.26136-42C>T)
c.24576-42C>T (n.24576-42C>T)
c.24069-42C>T (n.24069-42C>T)
c.19536-42C>T (n.19536-42C>T)
c.2701-42C>T (n.2701-42C>T)
c.26274-42C>T (n.26274-42C>T)
c.26223-42C>T (n.26223-42C>T)
c.26187-42C>T (n.26187-42C>T)
c.26034-42C>T (n.26034-42C>T)
c.26173-42C>T (n.26173-42C>T)
c.26128-42C>T (n.26128-42C>T)
c.26116-42C>T (n.26116-42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122718G=CA1673189382ESR1,SYNE1c.2688-42C= (n.2688-42C=)
c.26154-42C= (n.26154-42C=)
c.26010-42C= (n.26010-42C=)
c.1497-42C=
c.1872-42C=
c.1739-42C=
c.2004-42C= (n.2004-42C=)
c.24939-42C= (n.24939-42C=)
n.2902-42C=
c.4930-42C= (n.4930-42C=)
n.9846-42C=
c.4033-42C= (n.4033-42C=)
n.9738-42C=
c.851-2548G= (n.851-2548G=)
n.2768-42C=
n.6791-42C=
n.2932-42C=
c.2619-42C= (n.2619-42C=)
c.26301-42C= (n.26301-42C=)
c.26289-42C= (n.26289-42C=)
c.26280-42C= (n.26280-42C=)
c.26259-42C= (n.26259-42C=)
c.26250-42C= (n.26250-42C=)
c.26244-42C= (n.26244-42C=)
c.26232-42C= (n.26232-42C=)
c.26229-42C= (n.26229-42C=)
c.26190-42C= (n.26190-42C=)
c.26175-42C= (n.26175-42C=)
c.26160-42C= (n.26160-42C=)
c.26148-42C= (n.26148-42C=)
c.26145-42C= (n.26145-42C=)
c.26142-42C= (n.26142-42C=)
c.26242-42C= (n.26242-42C=)
c.26200-42C= (n.26200-42C=)
c.26131-42C= (n.26131-42C=)
c.26298-42C= (n.26298-42C=)
c.26286-42C= (n.26286-42C=)
c.26136-42C= (n.26136-42C=)
c.24576-42C= (n.24576-42C=)
c.24069-42C= (n.24069-42C=)
c.19536-42C= (n.19536-42C=)
c.2701-42C= (n.2701-42C=)
c.26274-42C= (n.26274-42C=)
c.26223-42C= (n.26223-42C=)
c.26187-42C= (n.26187-42C=)
c.26034-42C= (n.26034-42C=)
c.26173-42C= (n.26173-42C=)
c.26128-42C= (n.26128-42C=)
c.26116-42C= (n.26116-42C=)
6g.152122720C>ACA1673189386ESR1,SYNE1c.2688-44G>T (n.2688-44G>T)
c.26154-44G>T (n.26154-44G>T)
c.26010-44G>T (n.26010-44G>T)
c.1497-44G>T
c.1872-44G>T
c.1739-44G>T
c.2004-44G>T (n.2004-44G>T)
c.24939-44G>T (n.24939-44G>T)
n.2902-44G>T
c.4930-44G>T (n.4930-44G>T)
n.9846-44G>T
c.4033-44G>T (n.4033-44G>T)
n.9738-44G>T
c.851-2546C>A (n.851-2546C>A)
n.2768-44G>T
n.6791-44G>T
n.2932-44G>T
c.2619-44G>T (n.2619-44G>T)
c.26301-44G>T (n.26301-44G>T)
c.26289-44G>T (n.26289-44G>T)
c.26280-44G>T (n.26280-44G>T)
c.26259-44G>T (n.26259-44G>T)
c.26250-44G>T (n.26250-44G>T)
c.26244-44G>T (n.26244-44G>T)
c.26232-44G>T (n.26232-44G>T)
c.26229-44G>T (n.26229-44G>T)
c.26190-44G>T (n.26190-44G>T)
c.26175-44G>T (n.26175-44G>T)
c.26160-44G>T (n.26160-44G>T)
c.26148-44G>T (n.26148-44G>T)
c.26145-44G>T (n.26145-44G>T)
c.26142-44G>T (n.26142-44G>T)
c.26242-44G>T (n.26242-44G>T)
c.26200-44G>T (n.26200-44G>T)
c.26131-44G>T (n.26131-44G>T)
c.26298-44G>T (n.26298-44G>T)
c.26286-44G>T (n.26286-44G>T)
c.26136-44G>T (n.26136-44G>T)
c.24576-44G>T (n.24576-44G>T)
c.24069-44G>T (n.24069-44G>T)
c.19536-44G>T (n.19536-44G>T)
c.2701-44G>T (n.2701-44G>T)
c.26274-44G>T (n.26274-44G>T)
c.26223-44G>T (n.26223-44G>T)
c.26187-44G>T (n.26187-44G>T)
c.26034-44G>T (n.26034-44G>T)
c.26173-44G>T (n.26173-44G>T)
c.26128-44G>T (n.26128-44G>T)
c.26116-44G>T (n.26116-44G>T)
 dbSNP gnomAD v4
6g.152122720C=CA1673189385ESR1,SYNE1c.2688-44G= (n.2688-44G=)
c.26154-44G= (n.26154-44G=)
c.26010-44G= (n.26010-44G=)
c.1497-44G=
c.1872-44G=
c.1739-44G=
c.2004-44G= (n.2004-44G=)
c.24939-44G= (n.24939-44G=)
n.2902-44G=
c.4930-44G= (n.4930-44G=)
n.9846-44G=
c.4033-44G= (n.4033-44G=)
n.9738-44G=
c.851-2546C= (n.851-2546C=)
n.2768-44G=
n.6791-44G=
n.2932-44G=
c.2619-44G= (n.2619-44G=)
c.26301-44G= (n.26301-44G=)
c.26289-44G= (n.26289-44G=)
c.26280-44G= (n.26280-44G=)
c.26259-44G= (n.26259-44G=)
c.26250-44G= (n.26250-44G=)
c.26244-44G= (n.26244-44G=)
c.26232-44G= (n.26232-44G=)
c.26229-44G= (n.26229-44G=)
c.26190-44G= (n.26190-44G=)
c.26175-44G= (n.26175-44G=)
c.26160-44G= (n.26160-44G=)
c.26148-44G= (n.26148-44G=)
c.26145-44G= (n.26145-44G=)
c.26142-44G= (n.26142-44G=)
c.26242-44G= (n.26242-44G=)
c.26200-44G= (n.26200-44G=)
c.26131-44G= (n.26131-44G=)
c.26298-44G= (n.26298-44G=)
c.26286-44G= (n.26286-44G=)
c.26136-44G= (n.26136-44G=)
c.24576-44G= (n.24576-44G=)
c.24069-44G= (n.24069-44G=)
c.19536-44G= (n.19536-44G=)
c.2701-44G= (n.2701-44G=)
c.26274-44G= (n.26274-44G=)
c.26223-44G= (n.26223-44G=)
c.26187-44G= (n.26187-44G=)
c.26034-44G= (n.26034-44G=)
c.26173-44G= (n.26173-44G=)
c.26128-44G= (n.26128-44G=)
c.26116-44G= (n.26116-44G=)
6g.152122720C>TCA4052622ESR1,SYNE1c.2688-44G>A (n.2688-44G>A)
c.26154-44G>A (n.26154-44G>A)
c.26010-44G>A (n.26010-44G>A)
c.1497-44G>A
c.1872-44G>A
c.1739-44G>A
c.2004-44G>A (n.2004-44G>A)
c.24939-44G>A (n.24939-44G>A)
n.2902-44G>A
c.4930-44G>A (n.4930-44G>A)
n.9846-44G>A
c.4033-44G>A (n.4033-44G>A)
n.9738-44G>A
c.851-2546C>T (n.851-2546C>T)
n.2768-44G>A
n.6791-44G>A
n.2932-44G>A
c.2619-44G>A (n.2619-44G>A)
c.26301-44G>A (n.26301-44G>A)
c.26289-44G>A (n.26289-44G>A)
c.26280-44G>A (n.26280-44G>A)
c.26259-44G>A (n.26259-44G>A)
c.26250-44G>A (n.26250-44G>A)
c.26244-44G>A (n.26244-44G>A)
c.26232-44G>A (n.26232-44G>A)
c.26229-44G>A (n.26229-44G>A)
c.26190-44G>A (n.26190-44G>A)
c.26175-44G>A (n.26175-44G>A)
c.26160-44G>A (n.26160-44G>A)
c.26148-44G>A (n.26148-44G>A)
c.26145-44G>A (n.26145-44G>A)
c.26142-44G>A (n.26142-44G>A)
c.26242-44G>A (n.26242-44G>A)
c.26200-44G>A (n.26200-44G>A)
c.26131-44G>A (n.26131-44G>A)
c.26298-44G>A (n.26298-44G>A)
c.26286-44G>A (n.26286-44G>A)
c.26136-44G>A (n.26136-44G>A)
c.24576-44G>A (n.24576-44G>A)
c.24069-44G>A (n.24069-44G>A)
c.19536-44G>A (n.19536-44G>A)
c.2701-44G>A (n.2701-44G>A)
c.26274-44G>A (n.26274-44G>A)
c.26223-44G>A (n.26223-44G>A)
c.26187-44G>A (n.26187-44G>A)
c.26034-44G>A (n.26034-44G>A)
c.26173-44G>A (n.26173-44G>A)
c.26128-44G>A (n.26128-44G>A)
c.26116-44G>A (n.26116-44G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122721G>ACA4052624ESR1,SYNE1c.2688-45C>T (n.2688-45C>T)
c.26154-45C>T (n.26154-45C>T)
c.26010-45C>T (n.26010-45C>T)
c.1497-45C>T
c.1872-45C>T
c.1739-45C>T
c.2004-45C>T (n.2004-45C>T)
c.24939-45C>T (n.24939-45C>T)
n.2902-45C>T
c.4930-45C>T (n.4930-45C>T)
n.9846-45C>T
c.4033-45C>T (n.4033-45C>T)
n.9738-45C>T
c.851-2545G>A (n.851-2545G>A)
n.2768-45C>T
n.6791-45C>T
n.2932-45C>T
c.2619-45C>T (n.2619-45C>T)
c.26301-45C>T (n.26301-45C>T)
c.26289-45C>T (n.26289-45C>T)
c.26280-45C>T (n.26280-45C>T)
c.26259-45C>T (n.26259-45C>T)
c.26250-45C>T (n.26250-45C>T)
c.26244-45C>T (n.26244-45C>T)
c.26232-45C>T (n.26232-45C>T)
c.26229-45C>T (n.26229-45C>T)
c.26190-45C>T (n.26190-45C>T)
c.26175-45C>T (n.26175-45C>T)
c.26160-45C>T (n.26160-45C>T)
c.26148-45C>T (n.26148-45C>T)
c.26145-45C>T (n.26145-45C>T)
c.26142-45C>T (n.26142-45C>T)
c.26242-45C>T (n.26242-45C>T)
c.26200-45C>T (n.26200-45C>T)
c.26131-45C>T (n.26131-45C>T)
c.26298-45C>T (n.26298-45C>T)
c.26286-45C>T (n.26286-45C>T)
c.26136-45C>T (n.26136-45C>T)
c.24576-45C>T (n.24576-45C>T)
c.24069-45C>T (n.24069-45C>T)
c.19536-45C>T (n.19536-45C>T)
c.2701-45C>T (n.2701-45C>T)
c.26274-45C>T (n.26274-45C>T)
c.26223-45C>T (n.26223-45C>T)
c.26187-45C>T (n.26187-45C>T)
c.26034-45C>T (n.26034-45C>T)
c.26173-45C>T (n.26173-45C>T)
c.26128-45C>T (n.26128-45C>T)
c.26116-45C>T (n.26116-45C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122721G>CCA4052623ESR1,SYNE1c.2688-45C>G (n.2688-45C>G)
c.26154-45C>G (n.26154-45C>G)
c.26010-45C>G (n.26010-45C>G)
c.1497-45C>G
c.1872-45C>G
c.1739-45C>G
c.2004-45C>G (n.2004-45C>G)
c.24939-45C>G (n.24939-45C>G)
n.2902-45C>G
c.4930-45C>G (n.4930-45C>G)
n.9846-45C>G
c.4033-45C>G (n.4033-45C>G)
n.9738-45C>G
c.851-2545G>C (n.851-2545G>C)
n.2768-45C>G
n.6791-45C>G
n.2932-45C>G
c.2619-45C>G (n.2619-45C>G)
c.26301-45C>G (n.26301-45C>G)
c.26289-45C>G (n.26289-45C>G)
c.26280-45C>G (n.26280-45C>G)
c.26259-45C>G (n.26259-45C>G)
c.26250-45C>G (n.26250-45C>G)
c.26244-45C>G (n.26244-45C>G)
c.26232-45C>G (n.26232-45C>G)
c.26229-45C>G (n.26229-45C>G)
c.26190-45C>G (n.26190-45C>G)
c.26175-45C>G (n.26175-45C>G)
c.26160-45C>G (n.26160-45C>G)
c.26148-45C>G (n.26148-45C>G)
c.26145-45C>G (n.26145-45C>G)
c.26142-45C>G (n.26142-45C>G)
c.26242-45C>G (n.26242-45C>G)
c.26200-45C>G (n.26200-45C>G)
c.26131-45C>G (n.26131-45C>G)
c.26298-45C>G (n.26298-45C>G)
c.26286-45C>G (n.26286-45C>G)
c.26136-45C>G (n.26136-45C>G)
c.24576-45C>G (n.24576-45C>G)
c.24069-45C>G (n.24069-45C>G)
c.19536-45C>G (n.19536-45C>G)
c.2701-45C>G (n.2701-45C>G)
c.26274-45C>G (n.26274-45C>G)
c.26223-45C>G (n.26223-45C>G)
c.26187-45C>G (n.26187-45C>G)
c.26034-45C>G (n.26034-45C>G)
c.26173-45C>G (n.26173-45C>G)
c.26128-45C>G (n.26128-45C>G)
c.26116-45C>G (n.26116-45C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122721G=CA1673189392ESR1,SYNE1c.2688-45C= (n.2688-45C=)
c.26154-45C= (n.26154-45C=)
c.26010-45C= (n.26010-45C=)
c.1497-45C=
c.1872-45C=
c.1739-45C=
c.2004-45C= (n.2004-45C=)
c.24939-45C= (n.24939-45C=)
n.2902-45C=
c.4930-45C= (n.4930-45C=)
n.9846-45C=
c.4033-45C= (n.4033-45C=)
n.9738-45C=
c.851-2545G= (n.851-2545G=)
n.2768-45C=
n.6791-45C=
n.2932-45C=
c.2619-45C= (n.2619-45C=)
c.26301-45C= (n.26301-45C=)
c.26289-45C= (n.26289-45C=)
c.26280-45C= (n.26280-45C=)
c.26259-45C= (n.26259-45C=)
c.26250-45C= (n.26250-45C=)
c.26244-45C= (n.26244-45C=)
c.26232-45C= (n.26232-45C=)
c.26229-45C= (n.26229-45C=)
c.26190-45C= (n.26190-45C=)
c.26175-45C= (n.26175-45C=)
c.26160-45C= (n.26160-45C=)
c.26148-45C= (n.26148-45C=)
c.26145-45C= (n.26145-45C=)
c.26142-45C= (n.26142-45C=)
c.26242-45C= (n.26242-45C=)
c.26200-45C= (n.26200-45C=)
c.26131-45C= (n.26131-45C=)
c.26298-45C= (n.26298-45C=)
c.26286-45C= (n.26286-45C=)
c.26136-45C= (n.26136-45C=)
c.24576-45C= (n.24576-45C=)
c.24069-45C= (n.24069-45C=)
c.19536-45C= (n.19536-45C=)
c.2701-45C= (n.2701-45C=)
c.26274-45C= (n.26274-45C=)
c.26223-45C= (n.26223-45C=)
c.26187-45C= (n.26187-45C=)
c.26034-45C= (n.26034-45C=)
c.26173-45C= (n.26173-45C=)
c.26128-45C= (n.26128-45C=)
c.26116-45C= (n.26116-45C=)
6g.152122721G>TCA2680809436ESR1,SYNE1c.2688-45C>A (n.2688-45C>A)
c.26154-45C>A (n.26154-45C>A)
c.26010-45C>A (n.26010-45C>A)
c.1497-45C>A
c.1872-45C>A
c.1739-45C>A
c.2004-45C>A (n.2004-45C>A)
c.24939-45C>A (n.24939-45C>A)
n.2902-45C>A
c.4930-45C>A (n.4930-45C>A)
n.9846-45C>A
c.4033-45C>A (n.4033-45C>A)
n.9738-45C>A
c.851-2545G>T (n.851-2545G>T)
n.2768-45C>A
n.6791-45C>A
n.2932-45C>A
c.2619-45C>A (n.2619-45C>A)
c.26301-45C>A (n.26301-45C>A)
c.26289-45C>A (n.26289-45C>A)
c.26280-45C>A (n.26280-45C>A)
c.26259-45C>A (n.26259-45C>A)
c.26250-45C>A (n.26250-45C>A)
c.26244-45C>A (n.26244-45C>A)
c.26232-45C>A (n.26232-45C>A)
c.26229-45C>A (n.26229-45C>A)
c.26190-45C>A (n.26190-45C>A)
c.26175-45C>A (n.26175-45C>A)
c.26160-45C>A (n.26160-45C>A)
c.26148-45C>A (n.26148-45C>A)
c.26145-45C>A (n.26145-45C>A)
c.26142-45C>A (n.26142-45C>A)
c.26242-45C>A (n.26242-45C>A)
c.26200-45C>A (n.26200-45C>A)
c.26131-45C>A (n.26131-45C>A)
c.26298-45C>A (n.26298-45C>A)
c.26286-45C>A (n.26286-45C>A)
c.26136-45C>A (n.26136-45C>A)
c.24576-45C>A (n.24576-45C>A)
c.24069-45C>A (n.24069-45C>A)
c.19536-45C>A (n.19536-45C>A)
c.2701-45C>A (n.2701-45C>A)
c.26274-45C>A (n.26274-45C>A)
c.26223-45C>A (n.26223-45C>A)
c.26187-45C>A (n.26187-45C>A)
c.26034-45C>A (n.26034-45C>A)
c.26173-45C>A (n.26173-45C>A)
c.26128-45C>A (n.26128-45C>A)
c.26116-45C>A (n.26116-45C>A)
 gnomAD v4
6g.152122722G>ACA4052625ESR1,SYNE1c.2688-46C>T (n.2688-46C>T)
c.26154-46C>T (n.26154-46C>T)
c.26010-46C>T (n.26010-46C>T)
c.1497-46C>T
c.1872-46C>T
c.1739-46C>T
c.2004-46C>T (n.2004-46C>T)
c.24939-46C>T (n.24939-46C>T)
n.2902-46C>T
c.4930-46C>T (n.4930-46C>T)
n.9846-46C>T
c.4033-46C>T (n.4033-46C>T)
n.9738-46C>T
c.851-2544G>A (n.851-2544G>A)
n.2768-46C>T
n.6791-46C>T
n.2932-46C>T
c.2619-46C>T (n.2619-46C>T)
c.26301-46C>T (n.26301-46C>T)
c.26289-46C>T (n.26289-46C>T)
c.26280-46C>T (n.26280-46C>T)
c.26259-46C>T (n.26259-46C>T)
c.26250-46C>T (n.26250-46C>T)
c.26244-46C>T (n.26244-46C>T)
c.26232-46C>T (n.26232-46C>T)
c.26229-46C>T (n.26229-46C>T)
c.26190-46C>T (n.26190-46C>T)
c.26175-46C>T (n.26175-46C>T)
c.26160-46C>T (n.26160-46C>T)
c.26148-46C>T (n.26148-46C>T)
c.26145-46C>T (n.26145-46C>T)
c.26142-46C>T (n.26142-46C>T)
c.26242-46C>T (n.26242-46C>T)
c.26200-46C>T (n.26200-46C>T)
c.26131-46C>T (n.26131-46C>T)
c.26298-46C>T (n.26298-46C>T)
c.26286-46C>T (n.26286-46C>T)
c.26136-46C>T (n.26136-46C>T)
c.24576-46C>T (n.24576-46C>T)
c.24069-46C>T (n.24069-46C>T)
c.19536-46C>T (n.19536-46C>T)
c.2701-46C>T (n.2701-46C>T)
c.26274-46C>T (n.26274-46C>T)
c.26223-46C>T (n.26223-46C>T)
c.26187-46C>T (n.26187-46C>T)
c.26034-46C>T (n.26034-46C>T)
c.26173-46C>T (n.26173-46C>T)
c.26128-46C>T (n.26128-46C>T)
c.26116-46C>T (n.26116-46C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122722G=CA1673189396ESR1,SYNE1c.2688-46C= (n.2688-46C=)
c.26154-46C= (n.26154-46C=)
c.26010-46C= (n.26010-46C=)
c.1497-46C=
c.1872-46C=
c.1739-46C=
c.2004-46C= (n.2004-46C=)
c.24939-46C= (n.24939-46C=)
n.2902-46C=
c.4930-46C= (n.4930-46C=)
n.9846-46C=
c.4033-46C= (n.4033-46C=)
n.9738-46C=
c.851-2544G= (n.851-2544G=)
n.2768-46C=
n.6791-46C=
n.2932-46C=
c.2619-46C= (n.2619-46C=)
c.26301-46C= (n.26301-46C=)
c.26289-46C= (n.26289-46C=)
c.26280-46C= (n.26280-46C=)
c.26259-46C= (n.26259-46C=)
c.26250-46C= (n.26250-46C=)
c.26244-46C= (n.26244-46C=)
c.26232-46C= (n.26232-46C=)
c.26229-46C= (n.26229-46C=)
c.26190-46C= (n.26190-46C=)
c.26175-46C= (n.26175-46C=)
c.26160-46C= (n.26160-46C=)
c.26148-46C= (n.26148-46C=)
c.26145-46C= (n.26145-46C=)
c.26142-46C= (n.26142-46C=)
c.26242-46C= (n.26242-46C=)
c.26200-46C= (n.26200-46C=)
c.26131-46C= (n.26131-46C=)
c.26298-46C= (n.26298-46C=)
c.26286-46C= (n.26286-46C=)
c.26136-46C= (n.26136-46C=)
c.24576-46C= (n.24576-46C=)
c.24069-46C= (n.24069-46C=)
c.19536-46C= (n.19536-46C=)
c.2701-46C= (n.2701-46C=)
c.26274-46C= (n.26274-46C=)
c.26223-46C= (n.26223-46C=)
c.26187-46C= (n.26187-46C=)
c.26034-46C= (n.26034-46C=)
c.26173-46C= (n.26173-46C=)
c.26128-46C= (n.26128-46C=)
c.26116-46C= (n.26116-46C=)
6g.152122722G>TCA2680809437ESR1,SYNE1c.2688-46C>A (n.2688-46C>A)
c.26154-46C>A (n.26154-46C>A)
c.26010-46C>A (n.26010-46C>A)
c.1497-46C>A
c.1872-46C>A
c.1739-46C>A
c.2004-46C>A (n.2004-46C>A)
c.24939-46C>A (n.24939-46C>A)
n.2902-46C>A
c.4930-46C>A (n.4930-46C>A)
n.9846-46C>A
c.4033-46C>A (n.4033-46C>A)
n.9738-46C>A
c.851-2544G>T (n.851-2544G>T)
n.2768-46C>A
n.6791-46C>A
n.2932-46C>A
c.2619-46C>A (n.2619-46C>A)
c.26301-46C>A (n.26301-46C>A)
c.26289-46C>A (n.26289-46C>A)
c.26280-46C>A (n.26280-46C>A)
c.26259-46C>A (n.26259-46C>A)
c.26250-46C>A (n.26250-46C>A)
c.26244-46C>A (n.26244-46C>A)
c.26232-46C>A (n.26232-46C>A)
c.26229-46C>A (n.26229-46C>A)
c.26190-46C>A (n.26190-46C>A)
c.26175-46C>A (n.26175-46C>A)
c.26160-46C>A (n.26160-46C>A)
c.26148-46C>A (n.26148-46C>A)
c.26145-46C>A (n.26145-46C>A)
c.26142-46C>A (n.26142-46C>A)
c.26242-46C>A (n.26242-46C>A)
c.26200-46C>A (n.26200-46C>A)
c.26131-46C>A (n.26131-46C>A)
c.26298-46C>A (n.26298-46C>A)
c.26286-46C>A (n.26286-46C>A)
c.26136-46C>A (n.26136-46C>A)
c.24576-46C>A (n.24576-46C>A)
c.24069-46C>A (n.24069-46C>A)
c.19536-46C>A (n.19536-46C>A)
c.2701-46C>A (n.2701-46C>A)
c.26274-46C>A (n.26274-46C>A)
c.26223-46C>A (n.26223-46C>A)
c.26187-46C>A (n.26187-46C>A)
c.26034-46C>A (n.26034-46C>A)
c.26173-46C>A (n.26173-46C>A)
c.26128-46C>A (n.26128-46C>A)
c.26116-46C>A (n.26116-46C>A)
 gnomAD v4
6g.152122724G>TCA2561062621ESR1,SYNE1c.2688-48C>A (n.2688-48C>A)
c.26154-48C>A (n.26154-48C>A)
c.26010-48C>A (n.26010-48C>A)
c.1497-48C>A
c.1872-48C>A
c.1739-48C>A
c.2004-48C>A (n.2004-48C>A)
c.24939-48C>A (n.24939-48C>A)
n.2902-48C>A
c.4930-48C>A (n.4930-48C>A)
n.9846-48C>A
c.4033-48C>A (n.4033-48C>A)
n.9738-48C>A
c.851-2542G>T (n.851-2542G>T)
n.2768-48C>A
n.6791-48C>A
n.2932-48C>A
c.2619-48C>A (n.2619-48C>A)
c.26301-48C>A (n.26301-48C>A)
c.26289-48C>A (n.26289-48C>A)
c.26280-48C>A (n.26280-48C>A)
c.26259-48C>A (n.26259-48C>A)
c.26250-48C>A (n.26250-48C>A)
c.26244-48C>A (n.26244-48C>A)
c.26232-48C>A (n.26232-48C>A)
c.26229-48C>A (n.26229-48C>A)
c.26190-48C>A (n.26190-48C>A)
c.26175-48C>A (n.26175-48C>A)
c.26160-48C>A (n.26160-48C>A)
c.26148-48C>A (n.26148-48C>A)
c.26145-48C>A (n.26145-48C>A)
c.26142-48C>A (n.26142-48C>A)
c.26242-48C>A (n.26242-48C>A)
c.26200-48C>A (n.26200-48C>A)
c.26131-48C>A (n.26131-48C>A)
c.26298-48C>A (n.26298-48C>A)
c.26286-48C>A (n.26286-48C>A)
c.26136-48C>A (n.26136-48C>A)
c.24576-48C>A (n.24576-48C>A)
c.24069-48C>A (n.24069-48C>A)
c.19536-48C>A (n.19536-48C>A)
c.2701-48C>A (n.2701-48C>A)
c.26274-48C>A (n.26274-48C>A)
c.26223-48C>A (n.26223-48C>A)
c.26187-48C>A (n.26187-48C>A)
c.26034-48C>A (n.26034-48C>A)
c.26173-48C>A (n.26173-48C>A)
c.26128-48C>A (n.26128-48C>A)
c.26116-48C>A (n.26116-48C>A)
 dbSNP gnomAD v4
6g.152122725G>CCA2680809438ESR1,SYNE1c.2688-49C>G (n.2688-49C>G)
c.26154-49C>G (n.26154-49C>G)
c.26010-49C>G (n.26010-49C>G)
c.1497-49C>G
c.1872-49C>G
c.1739-49C>G
c.2004-49C>G (n.2004-49C>G)
c.24939-49C>G (n.24939-49C>G)
n.2902-49C>G
c.4930-49C>G (n.4930-49C>G)
n.9846-49C>G
c.4033-49C>G (n.4033-49C>G)
n.9738-49C>G
c.851-2541G>C (n.851-2541G>C)
n.2768-49C>G
n.6791-49C>G
n.2932-49C>G
c.2619-49C>G (n.2619-49C>G)
c.26301-49C>G (n.26301-49C>G)
c.26289-49C>G (n.26289-49C>G)
c.26280-49C>G (n.26280-49C>G)
c.26259-49C>G (n.26259-49C>G)
c.26250-49C>G (n.26250-49C>G)
c.26244-49C>G (n.26244-49C>G)
c.26232-49C>G (n.26232-49C>G)
c.26229-49C>G (n.26229-49C>G)
c.26190-49C>G (n.26190-49C>G)
c.26175-49C>G (n.26175-49C>G)
c.26160-49C>G (n.26160-49C>G)
c.26148-49C>G (n.26148-49C>G)
c.26145-49C>G (n.26145-49C>G)
c.26142-49C>G (n.26142-49C>G)
c.26242-49C>G (n.26242-49C>G)
c.26200-49C>G (n.26200-49C>G)
c.26131-49C>G (n.26131-49C>G)
c.26298-49C>G (n.26298-49C>G)
c.26286-49C>G (n.26286-49C>G)
c.26136-49C>G (n.26136-49C>G)
c.24576-49C>G (n.24576-49C>G)
c.24069-49C>G (n.24069-49C>G)
c.19536-49C>G (n.19536-49C>G)
c.2701-49C>G (n.2701-49C>G)
c.26274-49C>G (n.26274-49C>G)
c.26223-49C>G (n.26223-49C>G)
c.26187-49C>G (n.26187-49C>G)
c.26034-49C>G (n.26034-49C>G)
c.26173-49C>G (n.26173-49C>G)
c.26128-49C>G (n.26128-49C>G)
c.26116-49C>G (n.26116-49C>G)
 gnomAD v4
6g.152122725G>TCA2680809439ESR1,SYNE1c.2688-49C>A (n.2688-49C>A)
c.26154-49C>A (n.26154-49C>A)
c.26010-49C>A (n.26010-49C>A)
c.1497-49C>A
c.1872-49C>A
c.1739-49C>A
c.2004-49C>A (n.2004-49C>A)
c.24939-49C>A (n.24939-49C>A)
n.2902-49C>A
c.4930-49C>A (n.4930-49C>A)
n.9846-49C>A
c.4033-49C>A (n.4033-49C>A)
n.9738-49C>A
c.851-2541G>T (n.851-2541G>T)
n.2768-49C>A
n.6791-49C>A
n.2932-49C>A
c.2619-49C>A (n.2619-49C>A)
c.26301-49C>A (n.26301-49C>A)
c.26289-49C>A (n.26289-49C>A)
c.26280-49C>A (n.26280-49C>A)
c.26259-49C>A (n.26259-49C>A)
c.26250-49C>A (n.26250-49C>A)
c.26244-49C>A (n.26244-49C>A)
c.26232-49C>A (n.26232-49C>A)
c.26229-49C>A (n.26229-49C>A)
c.26190-49C>A (n.26190-49C>A)
c.26175-49C>A (n.26175-49C>A)
c.26160-49C>A (n.26160-49C>A)
c.26148-49C>A (n.26148-49C>A)
c.26145-49C>A (n.26145-49C>A)
c.26142-49C>A (n.26142-49C>A)
c.26242-49C>A (n.26242-49C>A)
c.26200-49C>A (n.26200-49C>A)
c.26131-49C>A (n.26131-49C>A)
c.26298-49C>A (n.26298-49C>A)
c.26286-49C>A (n.26286-49C>A)
c.26136-49C>A (n.26136-49C>A)
c.24576-49C>A (n.24576-49C>A)
c.24069-49C>A (n.24069-49C>A)
c.19536-49C>A (n.19536-49C>A)
c.2701-49C>A (n.2701-49C>A)
c.26274-49C>A (n.26274-49C>A)
c.26223-49C>A (n.26223-49C>A)
c.26187-49C>A (n.26187-49C>A)
c.26034-49C>A (n.26034-49C>A)
c.26173-49C>A (n.26173-49C>A)
c.26128-49C>A (n.26128-49C>A)
c.26116-49C>A (n.26116-49C>A)
 gnomAD v4
6g.152122728C>ACA571437299ESR1,SYNE1c.2688-52G>T (n.2688-52G>T)
c.26154-52G>T (n.26154-52G>T)
c.26010-52G>T (n.26010-52G>T)
c.1497-52G>T
c.1872-52G>T
c.1739-52G>T
c.2004-52G>T (n.2004-52G>T)
c.24939-52G>T (n.24939-52G>T)
n.2902-52G>T
c.4930-52G>T (n.4930-52G>T)
n.9846-52G>T
c.4033-52G>T (n.4033-52G>T)
n.9738-52G>T
c.851-2538C>A (n.851-2538C>A)
n.2768-52G>T
n.6791-52G>T
n.2932-52G>T
c.2619-52G>T (n.2619-52G>T)
c.26301-52G>T (n.26301-52G>T)
c.26289-52G>T (n.26289-52G>T)
c.26280-52G>T (n.26280-52G>T)
c.26259-52G>T (n.26259-52G>T)
c.26250-52G>T (n.26250-52G>T)
c.26244-52G>T (n.26244-52G>T)
c.26232-52G>T (n.26232-52G>T)
c.26229-52G>T (n.26229-52G>T)
c.26190-52G>T (n.26190-52G>T)
c.26175-52G>T (n.26175-52G>T)
c.26160-52G>T (n.26160-52G>T)
c.26148-52G>T (n.26148-52G>T)
c.26145-52G>T (n.26145-52G>T)
c.26142-52G>T (n.26142-52G>T)
c.26242-52G>T (n.26242-52G>T)
c.26200-52G>T (n.26200-52G>T)
c.26131-52G>T (n.26131-52G>T)
c.26298-52G>T (n.26298-52G>T)
c.26286-52G>T (n.26286-52G>T)
c.26136-52G>T (n.26136-52G>T)
c.24576-52G>T (n.24576-52G>T)
c.24069-52G>T (n.24069-52G>T)
c.19536-52G>T (n.19536-52G>T)
c.2701-52G>T (n.2701-52G>T)
c.26274-52G>T (n.26274-52G>T)
c.26223-52G>T (n.26223-52G>T)
c.26187-52G>T (n.26187-52G>T)
c.26034-52G>T (n.26034-52G>T)
c.26173-52G>T (n.26173-52G>T)
c.26128-52G>T (n.26128-52G>T)
c.26116-52G>T (n.26116-52G>T)
 dbSNP gnomAD v2 gnomAD v4
6g.152122728C=CA1673189399ESR1,SYNE1c.2688-52G= (n.2688-52G=)
c.26154-52G= (n.26154-52G=)
c.26010-52G= (n.26010-52G=)
c.1497-52G=
c.1872-52G=
c.1739-52G=
c.2004-52G= (n.2004-52G=)
c.24939-52G= (n.24939-52G=)
n.2902-52G=
c.4930-52G= (n.4930-52G=)
n.9846-52G=
c.4033-52G= (n.4033-52G=)
n.9738-52G=
c.851-2538C= (n.851-2538C=)
n.2768-52G=
n.6791-52G=
n.2932-52G=
c.2619-52G= (n.2619-52G=)
c.26301-52G= (n.26301-52G=)
c.26289-52G= (n.26289-52G=)
c.26280-52G= (n.26280-52G=)
c.26259-52G= (n.26259-52G=)
c.26250-52G= (n.26250-52G=)
c.26244-52G= (n.26244-52G=)
c.26232-52G= (n.26232-52G=)
c.26229-52G= (n.26229-52G=)
c.26190-52G= (n.26190-52G=)
c.26175-52G= (n.26175-52G=)
c.26160-52G= (n.26160-52G=)
c.26148-52G= (n.26148-52G=)
c.26145-52G= (n.26145-52G=)
c.26142-52G= (n.26142-52G=)
c.26242-52G= (n.26242-52G=)
c.26200-52G= (n.26200-52G=)
c.26131-52G= (n.26131-52G=)
c.26298-52G= (n.26298-52G=)
c.26286-52G= (n.26286-52G=)
c.26136-52G= (n.26136-52G=)
c.24576-52G= (n.24576-52G=)
c.24069-52G= (n.24069-52G=)
c.19536-52G= (n.19536-52G=)
c.2701-52G= (n.2701-52G=)
c.26274-52G= (n.26274-52G=)
c.26223-52G= (n.26223-52G=)
c.26187-52G= (n.26187-52G=)
c.26034-52G= (n.26034-52G=)
c.26173-52G= (n.26173-52G=)
c.26128-52G= (n.26128-52G=)
c.26116-52G= (n.26116-52G=)
6g.152122728C>TCA4052626ESR1,SYNE1c.2688-52G>A (n.2688-52G>A)
c.26154-52G>A (n.26154-52G>A)
c.26010-52G>A (n.26010-52G>A)
c.1497-52G>A
c.1872-52G>A
c.1739-52G>A
c.2004-52G>A (n.2004-52G>A)
c.24939-52G>A (n.24939-52G>A)
n.2902-52G>A
c.4930-52G>A (n.4930-52G>A)
n.9846-52G>A
c.4033-52G>A (n.4033-52G>A)
n.9738-52G>A
c.851-2538C>T (n.851-2538C>T)
n.2768-52G>A
n.6791-52G>A
n.2932-52G>A
c.2619-52G>A (n.2619-52G>A)
c.26301-52G>A (n.26301-52G>A)
c.26289-52G>A (n.26289-52G>A)
c.26280-52G>A (n.26280-52G>A)
c.26259-52G>A (n.26259-52G>A)
c.26250-52G>A (n.26250-52G>A)
c.26244-52G>A (n.26244-52G>A)
c.26232-52G>A (n.26232-52G>A)
c.26229-52G>A (n.26229-52G>A)
c.26190-52G>A (n.26190-52G>A)
c.26175-52G>A (n.26175-52G>A)
c.26160-52G>A (n.26160-52G>A)
c.26148-52G>A (n.26148-52G>A)
c.26145-52G>A (n.26145-52G>A)
c.26142-52G>A (n.26142-52G>A)
c.26242-52G>A (n.26242-52G>A)
c.26200-52G>A (n.26200-52G>A)
c.26131-52G>A (n.26131-52G>A)
c.26298-52G>A (n.26298-52G>A)
c.26286-52G>A (n.26286-52G>A)
c.26136-52G>A (n.26136-52G>A)
c.24576-52G>A (n.24576-52G>A)
c.24069-52G>A (n.24069-52G>A)
c.19536-52G>A (n.19536-52G>A)
c.2701-52G>A (n.2701-52G>A)
c.26274-52G>A (n.26274-52G>A)
c.26223-52G>A (n.26223-52G>A)
c.26187-52G>A (n.26187-52G>A)
c.26034-52G>A (n.26034-52G>A)
c.26173-52G>A (n.26173-52G>A)
c.26128-52G>A (n.26128-52G>A)
c.26116-52G>A (n.26116-52G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.152122728_152122729delinsCGCA1673189405ESR1,SYNE1c.2688-53_2688-52delinsCG (n.2688-53_2688-52delinsCG)
c.26154-53_26154-52delinsCG (n.26154-53_26154-52delinsCG)
c.26010-53_26010-52delinsCG (n.26010-53_26010-52delinsCG)
c.1497-53_1497-52delinsCG
c.1872-53_1872-52delinsCG
c.1739-53_1739-52delinsCG
c.2004-53_2004-52delinsCG (n.2004-53_2004-52delinsCG)
c.24939-53_24939-52delinsCG (n.24939-53_24939-52delinsCG)
n.2902-53_2902-52delinsCG
c.4930-53_4930-52delinsCG (n.4930-53_4930-52delinsCG)
n.9846-53_9846-52delinsCG
c.4033-53_4033-52delinsCG (n.4033-53_4033-52delinsCG)
n.9738-53_9738-52delinsCG
c.851-2538_851-2537delinsCG (n.851-2538_851-2537delinsCG)
n.2768-53_2768-52delinsCG
n.6791-53_6791-52delinsCG
n.2932-53_2932-52delinsCG
c.2619-53_2619-52delinsCG (n.2619-53_2619-52delinsCG)
c.26301-53_26301-52delinsCG (n.26301-53_26301-52delinsCG)
c.26289-53_26289-52delinsCG (n.26289-53_26289-52delinsCG)
c.26280-53_26280-52delinsCG (n.26280-53_26280-52delinsCG)
c.26259-53_26259-52delinsCG (n.26259-53_26259-52delinsCG)
c.26250-53_26250-52delinsCG (n.26250-53_26250-52delinsCG)
c.26244-53_26244-52delinsCG (n.26244-53_26244-52delinsCG)
c.26232-53_26232-52delinsCG (n.26232-53_26232-52delinsCG)
c.26229-53_26229-52delinsCG (n.26229-53_26229-52delinsCG)
c.26190-53_26190-52delinsCG (n.26190-53_26190-52delinsCG)
c.26175-53_26175-52delinsCG (n.26175-53_26175-52delinsCG)
c.26160-53_26160-52delinsCG (n.26160-53_26160-52delinsCG)
c.26148-53_26148-52delinsCG (n.26148-53_26148-52delinsCG)
c.26145-53_26145-52delinsCG (n.26145-53_26145-52delinsCG)
c.26142-53_26142-52delinsCG (n.26142-53_26142-52delinsCG)
c.26242-53_26242-52delinsCG (n.26242-53_26242-52delinsCG)
c.26200-53_26200-52delinsCG (n.26200-53_26200-52delinsCG)
c.26131-53_26131-52delinsCG (n.26131-53_26131-52delinsCG)
c.26298-53_26298-52delinsCG (n.26298-53_26298-52delinsCG)
c.26286-53_26286-52delinsCG (n.26286-53_26286-52delinsCG)
c.26136-53_26136-52delinsCG (n.26136-53_26136-52delinsCG)
c.24576-53_24576-52delinsCG (n.24576-53_24576-52delinsCG)
c.24069-53_24069-52delinsCG (n.24069-53_24069-52delinsCG)
c.19536-53_19536-52delinsCG (n.19536-53_19536-52delinsCG)
c.2701-53_2701-52delinsCG (n.2701-53_2701-52delinsCG)
c.26274-53_26274-52delinsCG (n.26274-53_26274-52delinsCG)
c.26223-53_26223-52delinsCG (n.26223-53_26223-52delinsCG)
c.26187-53_26187-52delinsCG (n.26187-53_26187-52delinsCG)
c.26034-53_26034-52delinsCG (n.26034-53_26034-52delinsCG)
c.26173-53_26173-52delinsCG (n.26173-53_26173-52delinsCG)
c.26128-53_26128-52delinsCG (n.26128-53_26128-52delinsCG)
c.26116-53_26116-52delinsCG (n.26116-53_26116-52delinsCG)
6g.152122729delCA4052627ESR1,SYNE1c.2688-53del (n.2688-53del)
c.26154-53del (n.26154-53del)
c.26010-53del (n.26010-53del)
c.1497-53del
c.1872-53del
c.1739-53del
c.2004-53del (n.2004-53del)
c.24939-53del (n.24939-53del)
n.2902-53del
c.4930-53del (n.4930-53del)
n.9846-53del
c.4033-53del (n.4033-53del)
n.9738-53del
c.851-2537del (n.851-2537del)
n.2768-53del
n.6791-53del
n.2932-53del
c.2619-53del (n.2619-53del)
c.26301-53del (n.26301-53del)
c.26289-53del (n.26289-53del)
c.26280-53del (n.26280-53del)
c.26259-53del (n.26259-53del)
c.26250-53del (n.26250-53del)
c.26244-53del (n.26244-53del)
c.26232-53del (n.26232-53del)
c.26229-53del (n.26229-53del)
c.26190-53del (n.26190-53del)
c.26175-53del (n.26175-53del)
c.26160-53del (n.26160-53del)
c.26148-53del (n.26148-53del)
c.26145-53del (n.26145-53del)
c.26142-53del (n.26142-53del)
c.26242-53del (n.26242-53del)
c.26200-53del (n.26200-53del)
c.26131-53del (n.26131-53del)
c.26298-53del (n.26298-53del)
c.26286-53del (n.26286-53del)
c.26136-53del (n.26136-53del)
c.24576-53del (n.24576-53del)
c.24069-53del (n.24069-53del)
c.19536-53del (n.19536-53del)
c.2701-53del (n.2701-53del)
c.26274-53del (n.26274-53del)
c.26223-53del (n.26223-53del)
c.26187-53del (n.26187-53del)
c.26034-53del (n.26034-53del)
c.26173-53del (n.26173-53del)
c.26128-53del (n.26128-53del)
c.26116-53del (n.26116-53del)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.152122729G>ACA150189765ESR1,SYNE1c.2688-53C>T (n.2688-53C>T)
c.26154-53C>T (n.26154-53C>T)
c.26010-53C>T (n.26010-53C>T)
c.1497-53C>T
c.1872-53C>T
c.1739-53C>T
c.2004-53C>T (n.2004-53C>T)
c.24939-53C>T (n.24939-53C>T)
n.2902-53C>T
c.4930-53C>T (n.4930-53C>T)
n.9846-53C>T
c.4033-53C>T (n.4033-53C>T)
n.9738-53C>T
c.851-2537G>A (n.851-2537G>A)
n.2768-53C>T
n.6791-53C>T
n.2932-53C>T
c.2619-53C>T (n.2619-53C>T)
c.26301-53C>T (n.26301-53C>T)
c.26289-53C>T (n.26289-53C>T)
c.26280-53C>T (n.26280-53C>T)
c.26259-53C>T (n.26259-53C>T)
c.26250-53C>T (n.26250-53C>T)
c.26244-53C>T (n.26244-53C>T)
c.26232-53C>T (n.26232-53C>T)
c.26229-53C>T (n.26229-53C>T)
c.26190-53C>T (n.26190-53C>T)
c.26175-53C>T (n.26175-53C>T)
c.26160-53C>T (n.26160-53C>T)
c.26148-53C>T (n.26148-53C>T)
c.26145-53C>T (n.26145-53C>T)
c.26142-53C>T (n.26142-53C>T)
c.26242-53C>T (n.26242-53C>T)
c.26200-53C>T (n.26200-53C>T)
c.26131-53C>T (n.26131-53C>T)
c.26298-53C>T (n.26298-53C>T)
c.26286-53C>T (n.26286-53C>T)
c.26136-53C>T (n.26136-53C>T)
c.24576-53C>T (n.24576-53C>T)
c.24069-53C>T (n.24069-53C>T)
c.19536-53C>T (n.19536-53C>T)
c.2701-53C>T (n.2701-53C>T)
c.26274-53C>T (n.26274-53C>T)
c.26223-53C>T (n.26223-53C>T)
c.26187-53C>T (n.26187-53C>T)
c.26034-53C>T (n.26034-53C>T)
c.26173-53C>T (n.26173-53C>T)
c.26128-53C>T (n.26128-53C>T)
c.26116-53C>T (n.26116-53C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.152122729G=CA1673189409ESR1,SYNE1c.2688-53C= (n.2688-53C=)
c.26154-53C= (n.26154-53C=)
c.26010-53C= (n.26010-53C=)
c.1497-53C=
c.1872-53C=
c.1739-53C=
c.2004-53C= (n.2004-53C=)
c.24939-53C= (n.24939-53C=)
n.2902-53C=
c.4930-53C= (n.4930-53C=)
n.9846-53C=
c.4033-53C= (n.4033-53C=)
n.9738-53C=
c.851-2537G= (n.851-2537G=)
n.2768-53C=
n.6791-53C=
n.2932-53C=
c.2619-53C= (n.2619-53C=)
c.26301-53C= (n.26301-53C=)
c.26289-53C= (n.26289-53C=)
c.26280-53C= (n.26280-53C=)
c.26259-53C= (n.26259-53C=)
c.26250-53C= (n.26250-53C=)
c.26244-53C= (n.26244-53C=)
c.26232-53C= (n.26232-53C=)
c.26229-53C= (n.26229-53C=)
c.26190-53C= (n.26190-53C=)
c.26175-53C= (n.26175-53C=)
c.26160-53C= (n.26160-53C=)
c.26148-53C= (n.26148-53C=)
c.26145-53C= (n.26145-53C=)
c.26142-53C= (n.26142-53C=)
c.26242-53C= (n.26242-53C=)
c.26200-53C= (n.26200-53C=)
c.26131-53C= (n.26131-53C=)
c.26298-53C= (n.26298-53C=)
c.26286-53C= (n.26286-53C=)
c.26136-53C= (n.26136-53C=)
c.24576-53C= (n.24576-53C=)
c.24069-53C= (n.24069-53C=)
c.19536-53C= (n.19536-53C=)
c.2701-53C= (n.2701-53C=)
c.26274-53C= (n.26274-53C=)
c.26223-53C= (n.26223-53C=)
c.26187-53C= (n.26187-53C=)
c.26034-53C= (n.26034-53C=)
c.26173-53C= (n.26173-53C=)
c.26128-53C= (n.26128-53C=)
c.26116-53C= (n.26116-53C=)
6g.152122731T>CCA1673189411ESR1,SYNE1c.2688-55A>G (n.2688-55A>G)
c.26154-55A>G (n.26154-55A>G)
c.26010-55A>G (n.26010-55A>G)
c.1497-55A>G
c.1872-55A>G
c.1739-55A>G
c.2004-55A>G (n.2004-55A>G)
c.24939-55A>G (n.24939-55A>G)
n.2902-55A>G
c.4930-55A>G (n.4930-55A>G)
n.9846-55A>G
c.4033-55A>G (n.4033-55A>G)
n.9738-55A>G
c.851-2535T>C (n.851-2535T>C)
n.2768-55A>G
n.6791-55A>G
n.2932-55A>G
c.2619-55A>G (n.2619-55A>G)
c.26301-55A>G (n.26301-55A>G)
c.26289-55A>G (n.26289-55A>G)
c.26280-55A>G (n.26280-55A>G)
c.26259-55A>G (n.26259-55A>G)
c.26250-55A>G (n.26250-55A>G)
c.26244-55A>G (n.26244-55A>G)
c.26232-55A>G (n.26232-55A>G)
c.26229-55A>G (n.26229-55A>G)
c.26190-55A>G (n.26190-55A>G)
c.26175-55A>G (n.26175-55A>G)
c.26160-55A>G (n.26160-55A>G)
c.26148-55A>G (n.26148-55A>G)
c.26145-55A>G (n.26145-55A>G)
c.26142-55A>G (n.26142-55A>G)
c.26242-55A>G (n.26242-55A>G)
c.26200-55A>G (n.26200-55A>G)
c.26131-55A>G (n.26131-55A>G)
c.26298-55A>G (n.26298-55A>G)
c.26286-55A>G (n.26286-55A>G)
c.26136-55A>G (n.26136-55A>G)
c.24576-55A>G (n.24576-55A>G)
c.24069-55A>G (n.24069-55A>G)
c.19536-55A>G (n.19536-55A>G)
c.2701-55A>G (n.2701-55A>G)
c.26274-55A>G (n.26274-55A>G)
c.26223-55A>G (n.26223-55A>G)
c.26187-55A>G (n.26187-55A>G)
c.26034-55A>G (n.26034-55A>G)
c.26173-55A>G (n.26173-55A>G)
c.26128-55A>G (n.26128-55A>G)
c.26116-55A>G (n.26116-55A>G)
 dbSNP
6g.152122731T=CA1673189410ESR1,SYNE1c.2688-55A= (n.2688-55A=)
c.26154-55A= (n.26154-55A=)
c.26010-55A= (n.26010-55A=)
c.1497-55A=
c.1872-55A=
c.1739-55A=
c.2004-55A= (n.2004-55A=)
c.24939-55A= (n.24939-55A=)
n.2902-55A=
c.4930-55A= (n.4930-55A=)
n.9846-55A=
c.4033-55A= (n.4033-55A=)
n.9738-55A=
c.851-2535T= (n.851-2535T=)
n.2768-55A=
n.6791-55A=
n.2932-55A=
c.2619-55A= (n.2619-55A=)
c.26301-55A= (n.26301-55A=)
c.26289-55A= (n.26289-55A=)
c.26280-55A= (n.26280-55A=)
c.26259-55A= (n.26259-55A=)
c.26250-55A= (n.26250-55A=)
c.26244-55A= (n.26244-55A=)
c.26232-55A= (n.26232-55A=)
c.26229-55A= (n.26229-55A=)
c.26190-55A= (n.26190-55A=)
c.26175-55A= (n.26175-55A=)
c.26160-55A= (n.26160-55A=)
c.26148-55A= (n.26148-55A=)
c.26145-55A= (n.26145-55A=)
c.26142-55A= (n.26142-55A=)
c.26242-55A= (n.26242-55A=)
c.26200-55A= (n.26200-55A=)
c.26131-55A= (n.26131-55A=)
c.26298-55A= (n.26298-55A=)
c.26286-55A= (n.26286-55A=)
c.26136-55A= (n.26136-55A=)
c.24576-55A= (n.24576-55A=)
c.24069-55A= (n.24069-55A=)
c.19536-55A= (n.19536-55A=)
c.2701-55A= (n.2701-55A=)
c.26274-55A= (n.26274-55A=)
c.26223-55A= (n.26223-55A=)
c.26187-55A= (n.26187-55A=)
c.26034-55A= (n.26034-55A=)
c.26173-55A= (n.26173-55A=)
c.26128-55A= (n.26128-55A=)
c.26116-55A= (n.26116-55A=)
6g.152122732G>CCA820881559ESR1,SYNE1c.2688-56C>G (n.2688-56C>G)
c.26154-56C>G (n.26154-56C>G)
c.26010-56C>G (n.26010-56C>G)
c.1497-56C>G
c.1872-56C>G
c.1739-56C>G
c.2004-56C>G (n.2004-56C>G)
c.24939-56C>G (n.24939-56C>G)
n.2902-56C>G
c.4930-56C>G (n.4930-56C>G)
n.9846-56C>G
c.4033-56C>G (n.4033-56C>G)
n.9738-56C>G
c.851-2534G>C (n.851-2534G>C)
n.2768-56C>G
n.6791-56C>G
n.2932-56C>G
c.2619-56C>G (n.2619-56C>G)
c.26301-56C>G (n.26301-56C>G)
c.26289-56C>G (n.26289-56C>G)
c.26280-56C>G (n.26280-56C>G)
c.26259-56C>G (n.26259-56C>G)
c.26250-56C>G (n.26250-56C>G)
c.26244-56C>G (n.26244-56C>G)
c.26232-56C>G (n.26232-56C>G)
c.26229-56C>G (n.26229-56C>G)
c.26190-56C>G (n.26190-56C>G)
c.26175-56C>G (n.26175-56C>G)
c.26160-56C>G (n.26160-56C>G)
c.26148-56C>G (n.26148-56C>G)
c.26145-56C>G (n.26145-56C>G)
c.26142-56C>G (n.26142-56C>G)
c.26242-56C>G (n.26242-56C>G)
c.26200-56C>G (n.26200-56C>G)
c.26131-56C>G (n.26131-56C>G)
c.26298-56C>G (n.26298-56C>G)
c.26286-56C>G (n.26286-56C>G)
c.26136-56C>G (n.26136-56C>G)
c.24576-56C>G (n.24576-56C>G)
c.24069-56C>G (n.24069-56C>G)
c.19536-56C>G (n.19536-56C>G)
c.2701-56C>G (n.2701-56C>G)
c.26274-56C>G (n.26274-56C>G)
c.26223-56C>G (n.26223-56C>G)
c.26187-56C>G (n.26187-56C>G)
c.26034-56C>G (n.26034-56C>G)
c.26173-56C>G (n.26173-56C>G)
c.26128-56C>G (n.26128-56C>G)
c.26116-56C>G (n.26116-56C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.152122732G=CA1673189413ESR1,SYNE1c.2688-56C= (n.2688-56C=)
c.26154-56C= (n.26154-56C=)
c.26010-56C= (n.26010-56C=)
c.1497-56C=
c.1872-56C=
c.1739-56C=
c.2004-56C= (n.2004-56C=)
c.24939-56C= (n.24939-56C=)
n.2902-56C=
c.4930-56C= (n.4930-56C=)
n.9846-56C=
c.4033-56C= (n.4033-56C=)
n.9738-56C=
c.851-2534G= (n.851-2534G=)
n.2768-56C=
n.6791-56C=
n.2932-56C=
c.2619-56C= (n.2619-56C=)
c.26301-56C= (n.26301-56C=)
c.26289-56C= (n.26289-56C=)
c.26280-56C= (n.26280-56C=)
c.26259-56C= (n.26259-56C=)
c.26250-56C= (n.26250-56C=)
c.26244-56C= (n.26244-56C=)
c.26232-56C= (n.26232-56C=)
c.26229-56C= (n.26229-56C=)
c.26190-56C= (n.26190-56C=)
c.26175-56C= (n.26175-56C=)
c.26160-56C= (n.26160-56C=)
c.26148-56C= (n.26148-56C=)
c.26145-56C= (n.26145-56C=)
c.26142-56C= (n.26142-56C=)
c.26242-56C= (n.26242-56C=)
c.26200-56C= (n.26200-56C=)
c.26131-56C= (n.26131-56C=)
c.26298-56C= (n.26298-56C=)
c.26286-56C= (n.26286-56C=)
c.26136-56C= (n.26136-56C=)
c.24576-56C= (n.24576-56C=)
c.24069-56C= (n.24069-56C=)
c.19536-56C= (n.19536-56C=)
c.2701-56C= (n.2701-56C=)
c.26274-56C= (n.26274-56C=)
c.26223-56C= (n.26223-56C=)
c.26187-56C= (n.26187-56C=)
c.26034-56C= (n.26034-56C=)
c.26173-56C= (n.26173-56C=)
c.26128-56C= (n.26128-56C=)
c.26116-56C= (n.26116-56C=)

Number of alleles fetched