Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.71299133G>ACA371467245EYA1c.740C>T (p.Pro247Leu)
c.638C>T (p.Pro213Leu)
c.725C>T (p.Pro242Leu)
c.*19C>T (n.*19C>T)
n.1203C>T
c.*507C>T (n.*507C>T)
c.827C>T (p.Pro276Leu)
c.812C>T (p.Pro271Leu)
c.809C>T (p.Pro270Leu)
c.722C>T (p.Pro241Leu)
c.641C>T (p.Pro214Leu)
c.737C>T (p.Pro246Leu)
n.1235C>T
c.374C>T (p.Pro125Leu)
c.677C>T (p.Pro226Leu)
c.389C>T (p.Pro130Leu)
c.824C>T (p.Pro275Leu)
8g.71299133G>CCA371467246EYA1c.740C>G (p.Pro247Arg)
c.638C>G (p.Pro213Arg)
c.725C>G (p.Pro242Arg)
c.*19C>G (n.*19C>G)
n.1203C>G
c.*507C>G (n.*507C>G)
c.827C>G (p.Pro276Arg)
c.812C>G (p.Pro271Arg)
c.809C>G (p.Pro270Arg)
c.722C>G (p.Pro241Arg)
c.641C>G (p.Pro214Arg)
c.737C>G (p.Pro246Arg)
n.1235C>G
c.374C>G (p.Pro125Arg)
c.677C>G (p.Pro226Arg)
c.389C>G (p.Pro130Arg)
c.824C>G (p.Pro275Arg)
8g.71299133G>TCA371467247EYA1c.740C>A (p.Pro247Gln)
c.638C>A (p.Pro213Gln)
c.725C>A (p.Pro242Gln)
c.*19C>A (n.*19C>A)
n.1203C>A
c.*507C>A (n.*507C>A)
c.827C>A (p.Pro276Gln)
c.812C>A (p.Pro271Gln)
c.809C>A (p.Pro270Gln)
c.722C>A (p.Pro241Gln)
c.641C>A (p.Pro214Gln)
c.737C>A (p.Pro246Gln)
n.1235C>A
c.374C>A (p.Pro125Gln)
c.677C>A (p.Pro226Gln)
c.389C>A (p.Pro130Gln)
c.824C>A (p.Pro275Gln)
8g.71299134G>ACA371467248EYA1c.739C>T (p.Pro247Ser)
c.637C>T (p.Pro213Ser)
c.724C>T (p.Pro242Ser)
c.*18C>T (n.*18C>T)
n.1202C>T
c.*506C>T (n.*506C>T)
c.826C>T (p.Pro276Ser)
c.811C>T (p.Pro271Ser)
c.808C>T (p.Pro270Ser)
c.721C>T (p.Pro241Ser)
c.640C>T (p.Pro214Ser)
c.736C>T (p.Pro246Ser)
n.1234C>T
c.373C>T (p.Pro125Ser)
c.676C>T (p.Pro226Ser)
c.388C>T (p.Pro130Ser)
c.823C>T (p.Pro275Ser)
8g.71299134G>CCA371467249EYA1c.739C>G (p.Pro247Ala)
c.637C>G (p.Pro213Ala)
c.724C>G (p.Pro242Ala)
c.*18C>G (n.*18C>G)
n.1202C>G
c.*506C>G (n.*506C>G)
c.826C>G (p.Pro276Ala)
c.811C>G (p.Pro271Ala)
c.808C>G (p.Pro270Ala)
c.721C>G (p.Pro241Ala)
c.640C>G (p.Pro214Ala)
c.736C>G (p.Pro246Ala)
n.1234C>G
c.373C>G (p.Pro125Ala)
c.676C>G (p.Pro226Ala)
c.388C>G (p.Pro130Ala)
c.823C>G (p.Pro275Ala)
8g.71299134G>TCA371467250EYA1c.739C>A (p.Pro247Thr)
c.637C>A (p.Pro213Thr)
c.724C>A (p.Pro242Thr)
c.*18C>A (n.*18C>A)
n.1202C>A
c.*506C>A (n.*506C>A)
c.826C>A (p.Pro276Thr)
c.811C>A (p.Pro271Thr)
c.808C>A (p.Pro270Thr)
c.721C>A (p.Pro241Thr)
c.640C>A (p.Pro214Thr)
c.736C>A (p.Pro246Thr)
n.1234C>A
c.373C>A (p.Pro125Thr)
c.676C>A (p.Pro226Thr)
c.388C>A (p.Pro130Thr)
c.823C>A (p.Pro275Thr)
 COSMIC COSMIC
8g.71299135G>ACA4779676EYA1c.738C>T (p.Ser246=)
c.636C>T (p.Ser212=)
c.723C>T (p.Ser241=)
c.*17C>T (n.*17C>T)
n.1201C>T
c.*505C>T (n.*505C>T)
c.825C>T (p.Ser275=)
c.810C>T (p.Ser270=)
c.807C>T (p.Ser269=)
c.720C>T (p.Ser240=)
c.639C>T (p.Ser213=)
c.735C>T (p.Ser245=)
n.1233C>T
c.372C>T (p.Ser124=)
c.675C>T (p.Ser225=)
c.387C>T (p.Ser129=)
c.822C>T (p.Ser274=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71299135G>CCA371467251EYA1c.738C>G (p.Ser246Arg)
c.636C>G (p.Ser212Arg)
c.723C>G (p.Ser241Arg)
c.*17C>G (n.*17C>G)
n.1201C>G
c.*505C>G (n.*505C>G)
c.825C>G (p.Ser275Arg)
c.810C>G (p.Ser270Arg)
c.807C>G (p.Ser269Arg)
c.720C>G (p.Ser240Arg)
c.639C>G (p.Ser213Arg)
c.735C>G (p.Ser245Arg)
n.1233C>G
c.372C>G (p.Ser124Arg)
c.675C>G (p.Ser225Arg)
c.387C>G (p.Ser129Arg)
c.822C>G (p.Ser274Arg)
8g.71299135G=CA1792728342EYA1c.738C= (p.Ser246=)
c.636C= (p.Ser212=)
c.723C= (p.Ser241=)
c.*17C= (n.*17C=)
n.1201C=
c.*505C= (n.*505C=)
c.825C= (p.Ser275=)
c.810C= (p.Ser270=)
c.807C= (p.Ser269=)
c.720C= (p.Ser240=)
c.639C= (p.Ser213=)
c.735C= (p.Ser245=)
n.1233C=
c.372C= (p.Ser124=)
c.675C= (p.Ser225=)
c.387C= (p.Ser129=)
c.822C= (p.Ser274=)
8g.71299135G>TCA371467252EYA1c.738C>A (p.Ser246Arg)
c.636C>A (p.Ser212Arg)
c.723C>A (p.Ser241Arg)
c.*17C>A (n.*17C>A)
n.1201C>A
c.*505C>A (n.*505C>A)
c.825C>A (p.Ser275Arg)
c.810C>A (p.Ser270Arg)
c.807C>A (p.Ser269Arg)
c.720C>A (p.Ser240Arg)
c.639C>A (p.Ser213Arg)
c.735C>A (p.Ser245Arg)
n.1233C>A
c.372C>A (p.Ser124Arg)
c.675C>A (p.Ser225Arg)
c.387C>A (p.Ser129Arg)
c.822C>A (p.Ser274Arg)
8g.71299136C>ACA371467255EYA1c.737G>T (p.Ser246Ile)
c.635G>T (p.Ser212Ile)
c.722G>T (p.Ser241Ile)
c.*16G>T (n.*16G>T)
n.1200G>T
c.*504G>T (n.*504G>T)
c.824G>T (p.Ser275Ile)
c.809G>T (p.Ser270Ile)
c.806G>T (p.Ser269Ile)
c.719G>T (p.Ser240Ile)
c.638G>T (p.Ser213Ile)
c.734G>T (p.Ser245Ile)
n.1232G>T
c.371G>T (p.Ser124Ile)
c.674G>T (p.Ser225Ile)
c.386G>T (p.Ser129Ile)
c.821G>T (p.Ser274Ile)
8g.71299136C=CA1792728343EYA1c.737G= (p.Ser246=)
c.635G= (p.Ser212=)
c.722G= (p.Ser241=)
c.*16G= (n.*16G=)
n.1200G=
c.*504G= (n.*504G=)
c.824G= (p.Ser275=)
c.809G= (p.Ser270=)
c.806G= (p.Ser269=)
c.719G= (p.Ser240=)
c.638G= (p.Ser213=)
c.734G= (p.Ser245=)
n.1232G=
c.371G= (p.Ser124=)
c.674G= (p.Ser225=)
c.386G= (p.Ser129=)
c.821G= (p.Ser274=)
8g.71299136C>GCA371467254EYA1c.737G>C (p.Ser246Thr)
c.635G>C (p.Ser212Thr)
c.722G>C (p.Ser241Thr)
c.*16G>C (n.*16G>C)
n.1200G>C
c.*504G>C (n.*504G>C)
c.824G>C (p.Ser275Thr)
c.809G>C (p.Ser270Thr)
c.806G>C (p.Ser269Thr)
c.719G>C (p.Ser240Thr)
c.638G>C (p.Ser213Thr)
c.734G>C (p.Ser245Thr)
n.1232G>C
c.371G>C (p.Ser124Thr)
c.674G>C (p.Ser225Thr)
c.386G>C (p.Ser129Thr)
c.821G>C (p.Ser274Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.71299136C>TCA371467253EYA1c.737G>A (p.Ser246Asn)
c.635G>A (p.Ser212Asn)
c.722G>A (p.Ser241Asn)
c.*16G>A (n.*16G>A)
n.1200G>A
c.*504G>A (n.*504G>A)
c.824G>A (p.Ser275Asn)
c.809G>A (p.Ser270Asn)
c.806G>A (p.Ser269Asn)
c.719G>A (p.Ser240Asn)
c.638G>A (p.Ser213Asn)
c.734G>A (p.Ser245Asn)
n.1232G>A
c.371G>A (p.Ser124Asn)
c.674G>A (p.Ser225Asn)
c.386G>A (p.Ser129Asn)
c.821G>A (p.Ser274Asn)
 dbSNP
8g.71299137T>ACA371467256EYA1c.736A>T (p.Ser246Cys)
c.634A>T (p.Ser212Cys)
c.721A>T (p.Ser241Cys)
c.*15A>T (n.*15A>T)
n.1199A>T
c.*503A>T (n.*503A>T)
c.823A>T (p.Ser275Cys)
c.808A>T (p.Ser270Cys)
c.805A>T (p.Ser269Cys)
c.718A>T (p.Ser240Cys)
c.637A>T (p.Ser213Cys)
c.733A>T (p.Ser245Cys)
n.1231A>T
c.370A>T (p.Ser124Cys)
c.673A>T (p.Ser225Cys)
c.385A>T (p.Ser129Cys)
c.820A>T (p.Ser274Cys)
8g.71299137T>CCA371467257EYA1c.736A>G (p.Ser246Gly)
c.634A>G (p.Ser212Gly)
c.721A>G (p.Ser241Gly)
c.*15A>G (n.*15A>G)
n.1199A>G
c.*503A>G (n.*503A>G)
c.823A>G (p.Ser275Gly)
c.808A>G (p.Ser270Gly)
c.805A>G (p.Ser269Gly)
c.718A>G (p.Ser240Gly)
c.637A>G (p.Ser213Gly)
c.733A>G (p.Ser245Gly)
n.1231A>G
c.370A>G (p.Ser124Gly)
c.673A>G (p.Ser225Gly)
c.385A>G (p.Ser129Gly)
c.820A>G (p.Ser274Gly)
8g.71299137T>GCA371467258EYA1c.736A>C (p.Ser246Arg)
c.634A>C (p.Ser212Arg)
c.721A>C (p.Ser241Arg)
c.*15A>C (n.*15A>C)
n.1199A>C
c.*503A>C (n.*503A>C)
c.823A>C (p.Ser275Arg)
c.808A>C (p.Ser270Arg)
c.805A>C (p.Ser269Arg)
c.718A>C (p.Ser240Arg)
c.637A>C (p.Ser213Arg)
c.733A>C (p.Ser245Arg)
n.1231A>C
c.370A>C (p.Ser124Arg)
c.673A>C (p.Ser225Arg)
c.385A>C (p.Ser129Arg)
c.820A>C (p.Ser274Arg)
8g.71299138G>ACA461327872EYA1c.735C>T (p.Thr245=)
c.633C>T (p.Thr211=)
c.720C>T (p.Thr240=)
c.*14C>T (n.*14C>T)
n.1198C>T
c.*502C>T (n.*502C>T)
c.822C>T (p.Thr274=)
c.807C>T (p.Thr269=)
c.804C>T (p.Thr268=)
c.717C>T (p.Thr239=)
c.636C>T (p.Thr212=)
c.732C>T (p.Thr244=)
n.1230C>T
c.369C>T (p.Thr123=)
c.672C>T (p.Thr224=)
c.384C>T (p.Thr128=)
c.819C>T (p.Thr273=)
8g.71299138G>CCA461327873EYA1c.735C>G (p.Thr245=)
c.633C>G (p.Thr211=)
c.720C>G (p.Thr240=)
c.*14C>G (n.*14C>G)
n.1198C>G
c.*502C>G (n.*502C>G)
c.822C>G (p.Thr274=)
c.807C>G (p.Thr269=)
c.804C>G (p.Thr268=)
c.717C>G (p.Thr239=)
c.636C>G (p.Thr212=)
c.732C>G (p.Thr244=)
n.1230C>G
c.369C>G (p.Thr123=)
c.672C>G (p.Thr224=)
c.384C>G (p.Thr128=)
c.819C>G (p.Thr273=)
 gnomAD v4
8g.71299138G=CA1792728344EYA1c.735C= (p.Thr245=)
c.633C= (p.Thr211=)
c.720C= (p.Thr240=)
c.*14C= (n.*14C=)
n.1198C=
c.*502C= (n.*502C=)
c.822C= (p.Thr274=)
c.807C= (p.Thr269=)
c.804C= (p.Thr268=)
c.717C= (p.Thr239=)
c.636C= (p.Thr212=)
c.732C= (p.Thr244=)
n.1230C=
c.369C= (p.Thr123=)
c.672C= (p.Thr224=)
c.384C= (p.Thr128=)
c.819C= (p.Thr273=)
8g.71299138G>TCA4779677EYA1c.735C>A (p.Thr245=)
c.633C>A (p.Thr211=)
c.720C>A (p.Thr240=)
c.*14C>A (n.*14C>A)
n.1198C>A
c.*502C>A (n.*502C>A)
c.822C>A (p.Thr274=)
c.807C>A (p.Thr269=)
c.804C>A (p.Thr268=)
c.717C>A (p.Thr239=)
c.636C>A (p.Thr212=)
c.732C>A (p.Thr244=)
n.1230C>A
c.369C>A (p.Thr123=)
c.672C>A (p.Thr224=)
c.384C>A (p.Thr128=)
c.819C>A (p.Thr273=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299139G>ACA371467259EYA1c.734C>T (p.Thr245Ile)
c.632C>T (p.Thr211Ile)
c.719C>T (p.Thr240Ile)
c.*13C>T (n.*13C>T)
n.1197C>T
c.*501C>T (n.*501C>T)
c.821C>T (p.Thr274Ile)
c.806C>T (p.Thr269Ile)
c.803C>T (p.Thr268Ile)
c.716C>T (p.Thr239Ile)
c.635C>T (p.Thr212Ile)
c.731C>T (p.Thr244Ile)
n.1229C>T
c.368C>T (p.Thr123Ile)
c.671C>T (p.Thr224Ile)
c.383C>T (p.Thr128Ile)
c.818C>T (p.Thr273Ile)
8g.71299139G>CCA371467260EYA1c.734C>G (p.Thr245Ser)
c.632C>G (p.Thr211Ser)
c.719C>G (p.Thr240Ser)
c.*13C>G (n.*13C>G)
n.1197C>G
c.*501C>G (n.*501C>G)
c.821C>G (p.Thr274Ser)
c.806C>G (p.Thr269Ser)
c.803C>G (p.Thr268Ser)
c.716C>G (p.Thr239Ser)
c.635C>G (p.Thr212Ser)
c.731C>G (p.Thr244Ser)
n.1229C>G
c.368C>G (p.Thr123Ser)
c.671C>G (p.Thr224Ser)
c.383C>G (p.Thr128Ser)
c.818C>G (p.Thr273Ser)
8g.71299139G>TCA371467261EYA1c.734C>A (p.Thr245Asn)
c.632C>A (p.Thr211Asn)
c.719C>A (p.Thr240Asn)
c.*13C>A (n.*13C>A)
n.1197C>A
c.*501C>A (n.*501C>A)
c.821C>A (p.Thr274Asn)
c.806C>A (p.Thr269Asn)
c.803C>A (p.Thr268Asn)
c.716C>A (p.Thr239Asn)
c.635C>A (p.Thr212Asn)
c.731C>A (p.Thr244Asn)
n.1229C>A
c.368C>A (p.Thr123Asn)
c.671C>A (p.Thr224Asn)
c.383C>A (p.Thr128Asn)
c.818C>A (p.Thr273Asn)
 gnomAD v4
8g.71299140T>ACA371467262EYA1c.733A>T (p.Thr245Ser)
c.631A>T (p.Thr211Ser)
c.718A>T (p.Thr240Ser)
c.*12A>T (n.*12A>T)
n.1196A>T
c.*500A>T (n.*500A>T)
c.820A>T (p.Thr274Ser)
c.805A>T (p.Thr269Ser)
c.802A>T (p.Thr268Ser)
c.715A>T (p.Thr239Ser)
c.634A>T (p.Thr212Ser)
c.730A>T (p.Thr244Ser)
n.1228A>T
c.367A>T (p.Thr123Ser)
c.670A>T (p.Thr224Ser)
c.382A>T (p.Thr128Ser)
c.817A>T (p.Thr273Ser)
8g.71299140T>CCA371467263EYA1c.733A>G (p.Thr245Ala)
c.631A>G (p.Thr211Ala)
c.718A>G (p.Thr240Ala)
c.*12A>G (n.*12A>G)
n.1196A>G
c.*500A>G (n.*500A>G)
c.820A>G (p.Thr274Ala)
c.805A>G (p.Thr269Ala)
c.802A>G (p.Thr268Ala)
c.715A>G (p.Thr239Ala)
c.634A>G (p.Thr212Ala)
c.730A>G (p.Thr244Ala)
n.1228A>G
c.367A>G (p.Thr123Ala)
c.670A>G (p.Thr224Ala)
c.382A>G (p.Thr128Ala)
c.817A>G (p.Thr273Ala)
 gnomAD v4
8g.71299140T>GCA371467264EYA1c.733A>C (p.Thr245Pro)
c.631A>C (p.Thr211Pro)
c.718A>C (p.Thr240Pro)
c.*12A>C (n.*12A>C)
n.1196A>C
c.*500A>C (n.*500A>C)
c.820A>C (p.Thr274Pro)
c.805A>C (p.Thr269Pro)
c.802A>C (p.Thr268Pro)
c.715A>C (p.Thr239Pro)
c.634A>C (p.Thr212Pro)
c.730A>C (p.Thr244Pro)
n.1228A>C
c.367A>C (p.Thr123Pro)
c.670A>C (p.Thr224Pro)
c.382A>C (p.Thr128Pro)
c.817A>C (p.Thr273Pro)
 dbSNP
8g.71299140T=CA1792728345EYA1c.733A= (p.Thr245=)
c.631A= (p.Thr211=)
c.718A= (p.Thr240=)
c.*12A= (n.*12A=)
n.1196A=
c.*500A= (n.*500A=)
c.820A= (p.Thr274=)
c.805A= (p.Thr269=)
c.802A= (p.Thr268=)
c.715A= (p.Thr239=)
c.634A= (p.Thr212=)
c.730A= (p.Thr244=)
n.1228A=
c.367A= (p.Thr123=)
c.670A= (p.Thr224=)
c.382A= (p.Thr128=)
c.817A= (p.Thr273=)
8g.71299141G>ACA461327874EYA1c.732C>T (p.Asn244=)
c.630C>T (p.Asn210=)
c.717C>T (p.Asn239=)
c.*11C>T (n.*11C>T)
n.1195C>T
c.*499C>T (n.*499C>T)
c.819C>T (p.Asn273=)
c.804C>T (p.Asn268=)
c.801C>T (p.Asn267=)
c.714C>T (p.Asn238=)
c.633C>T (p.Asn211=)
c.729C>T (p.Asn243=)
n.1227C>T
c.366C>T (p.Asn122=)
c.669C>T (p.Asn223=)
c.381C>T (p.Asn127=)
c.816C>T (p.Asn272=)
 dbSNP gnomAD v2 gnomAD v4
8g.71299141G>CCA371467265EYA1c.732C>G (p.Asn244Lys)
c.630C>G (p.Asn210Lys)
c.717C>G (p.Asn239Lys)
c.*11C>G (n.*11C>G)
n.1195C>G
c.*499C>G (n.*499C>G)
c.819C>G (p.Asn273Lys)
c.804C>G (p.Asn268Lys)
c.801C>G (p.Asn267Lys)
c.714C>G (p.Asn238Lys)
c.633C>G (p.Asn211Lys)
c.729C>G (p.Asn243Lys)
n.1227C>G
c.366C>G (p.Asn122Lys)
c.669C>G (p.Asn223Lys)
c.381C>G (p.Asn127Lys)
c.816C>G (p.Asn272Lys)
8g.71299141G=CA1792728346EYA1c.732C= (p.Asn244=)
c.630C= (p.Asn210=)
c.717C= (p.Asn239=)
c.*11C= (n.*11C=)
n.1195C=
c.*499C= (n.*499C=)
c.819C= (p.Asn273=)
c.804C= (p.Asn268=)
c.801C= (p.Asn267=)
c.714C= (p.Asn238=)
c.633C= (p.Asn211=)
c.729C= (p.Asn243=)
n.1227C=
c.366C= (p.Asn122=)
c.669C= (p.Asn223=)
c.381C= (p.Asn127=)
c.816C= (p.Asn272=)
8g.71299141G>TCA371467266EYA1c.732C>A (p.Asn244Lys)
c.630C>A (p.Asn210Lys)
c.717C>A (p.Asn239Lys)
c.*11C>A (n.*11C>A)
n.1195C>A
c.*499C>A (n.*499C>A)
c.819C>A (p.Asn273Lys)
c.804C>A (p.Asn268Lys)
c.801C>A (p.Asn267Lys)
c.714C>A (p.Asn238Lys)
c.633C>A (p.Asn211Lys)
c.729C>A (p.Asn243Lys)
n.1227C>A
c.366C>A (p.Asn122Lys)
c.669C>A (p.Asn223Lys)
c.381C>A (p.Asn127Lys)
c.816C>A (p.Asn272Lys)
8g.71299142T>ACA371467267EYA1c.731A>T (p.Asn244Ile)
c.629A>T (p.Asn210Ile)
c.716A>T (p.Asn239Ile)
c.*10A>T (n.*10A>T)
n.1194A>T
c.*498A>T (n.*498A>T)
c.818A>T (p.Asn273Ile)
c.803A>T (p.Asn268Ile)
c.800A>T (p.Asn267Ile)
c.713A>T (p.Asn238Ile)
c.632A>T (p.Asn211Ile)
c.728A>T (p.Asn243Ile)
n.1226A>T
c.365A>T (p.Asn122Ile)
c.668A>T (p.Asn223Ile)
c.380A>T (p.Asn127Ile)
c.815A>T (p.Asn272Ile)
8g.71299142T>CCA371467269EYA1c.731A>G (p.Asn244Ser)
c.629A>G (p.Asn210Ser)
c.716A>G (p.Asn239Ser)
c.*10A>G (n.*10A>G)
n.1194A>G
c.*498A>G (n.*498A>G)
c.818A>G (p.Asn273Ser)
c.803A>G (p.Asn268Ser)
c.800A>G (p.Asn267Ser)
c.713A>G (p.Asn238Ser)
c.632A>G (p.Asn211Ser)
c.728A>G (p.Asn243Ser)
n.1226A>G
c.365A>G (p.Asn122Ser)
c.668A>G (p.Asn223Ser)
c.380A>G (p.Asn127Ser)
c.815A>G (p.Asn272Ser)
8g.71299142T>GCA371467268EYA1c.731A>C (p.Asn244Thr)
c.629A>C (p.Asn210Thr)
c.716A>C (p.Asn239Thr)
c.*10A>C (n.*10A>C)
n.1194A>C
c.*498A>C (n.*498A>C)
c.818A>C (p.Asn273Thr)
c.803A>C (p.Asn268Thr)
c.800A>C (p.Asn267Thr)
c.713A>C (p.Asn238Thr)
c.632A>C (p.Asn211Thr)
c.728A>C (p.Asn243Thr)
n.1226A>C
c.365A>C (p.Asn122Thr)
c.668A>C (p.Asn223Thr)
c.380A>C (p.Asn127Thr)
c.815A>C (p.Asn272Thr)
8g.71299143T>ACA371467270EYA1c.730A>T (p.Asn244Tyr)
c.628A>T (p.Asn210Tyr)
c.715A>T (p.Asn239Tyr)
c.*9A>T (n.*9A>T)
n.1193A>T
c.*497A>T (n.*497A>T)
c.817A>T (p.Asn273Tyr)
c.802A>T (p.Asn268Tyr)
c.799A>T (p.Asn267Tyr)
c.712A>T (p.Asn238Tyr)
c.631A>T (p.Asn211Tyr)
c.727A>T (p.Asn243Tyr)
n.1225A>T
c.364A>T (p.Asn122Tyr)
c.667A>T (p.Asn223Tyr)
c.379A>T (p.Asn127Tyr)
c.814A>T (p.Asn272Tyr)
8g.71299143T>CCA371467271EYA1c.730A>G (p.Asn244Asp)
c.628A>G (p.Asn210Asp)
c.715A>G (p.Asn239Asp)
c.*9A>G (n.*9A>G)
n.1193A>G
c.*497A>G (n.*497A>G)
c.817A>G (p.Asn273Asp)
c.802A>G (p.Asn268Asp)
c.799A>G (p.Asn267Asp)
c.712A>G (p.Asn238Asp)
c.631A>G (p.Asn211Asp)
c.727A>G (p.Asn243Asp)
n.1225A>G
c.364A>G (p.Asn122Asp)
c.667A>G (p.Asn223Asp)
c.379A>G (p.Asn127Asp)
c.814A>G (p.Asn272Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.71299143T>GCA371467272EYA1c.730A>C (p.Asn244His)
c.628A>C (p.Asn210His)
c.715A>C (p.Asn239His)
c.*9A>C (n.*9A>C)
n.1193A>C
c.*497A>C (n.*497A>C)
c.817A>C (p.Asn273His)
c.802A>C (p.Asn268His)
c.799A>C (p.Asn267His)
c.712A>C (p.Asn238His)
c.631A>C (p.Asn211His)
c.727A>C (p.Asn243His)
n.1225A>C
c.364A>C (p.Asn122His)
c.667A>C (p.Asn223His)
c.379A>C (p.Asn127His)
c.814A>C (p.Asn272His)
8g.71299143T=CA1792728347EYA1c.730A= (p.Asn244=)
c.628A= (p.Asn210=)
c.715A= (p.Asn239=)
c.*9A= (n.*9A=)
n.1193A=
c.*497A= (n.*497A=)
c.817A= (p.Asn273=)
c.802A= (p.Asn268=)
c.799A= (p.Asn267=)
c.712A= (p.Asn238=)
c.631A= (p.Asn211=)
c.727A= (p.Asn243=)
n.1225A=
c.364A= (p.Asn122=)
c.667A= (p.Asn223=)
c.379A= (p.Asn127=)
c.814A= (p.Asn272=)
8g.71299144G>ACA461327875EYA1c.729C>T (p.Ser243=)
c.627C>T (p.Ser209=)
c.714C>T (p.Ser238=)
c.*8C>T (n.*8C>T)
n.1192C>T
c.*496C>T (n.*496C>T)
c.816C>T (p.Ser272=)
c.801C>T (p.Ser267=)
c.798C>T (p.Ser266=)
c.711C>T (p.Ser237=)
c.630C>T (p.Ser210=)
c.726C>T (p.Ser242=)
n.1224C>T
c.363C>T (p.Ser121=)
c.666C>T (p.Ser222=)
c.378C>T (p.Ser126=)
c.813C>T (p.Ser271=)
8g.71299144G>CCA371467273EYA1c.729C>G (p.Ser243Arg)
c.627C>G (p.Ser209Arg)
c.714C>G (p.Ser238Arg)
c.*8C>G (n.*8C>G)
n.1192C>G
c.*496C>G (n.*496C>G)
c.816C>G (p.Ser272Arg)
c.801C>G (p.Ser267Arg)
c.798C>G (p.Ser266Arg)
c.711C>G (p.Ser237Arg)
c.630C>G (p.Ser210Arg)
c.726C>G (p.Ser242Arg)
n.1224C>G
c.363C>G (p.Ser121Arg)
c.666C>G (p.Ser222Arg)
c.378C>G (p.Ser126Arg)
c.813C>G (p.Ser271Arg)
8g.71299144G>TCA371467274EYA1c.729C>A (p.Ser243Arg)
c.627C>A (p.Ser209Arg)
c.714C>A (p.Ser238Arg)
c.*8C>A (n.*8C>A)
n.1192C>A
c.*496C>A (n.*496C>A)
c.816C>A (p.Ser272Arg)
c.801C>A (p.Ser267Arg)
c.798C>A (p.Ser266Arg)
c.711C>A (p.Ser237Arg)
c.630C>A (p.Ser210Arg)
c.726C>A (p.Ser242Arg)
n.1224C>A
c.363C>A (p.Ser121Arg)
c.666C>A (p.Ser222Arg)
c.378C>A (p.Ser126Arg)
c.813C>A (p.Ser271Arg)
8g.71299145C>ACA4779678EYA1c.728G>T (p.Ser243Ile)
c.626G>T (p.Ser209Ile)
c.713G>T (p.Ser238Ile)
c.*7G>T (n.*7G>T)
n.1191G>T
c.*495G>T (n.*495G>T)
c.815G>T (p.Ser272Ile)
c.800G>T (p.Ser267Ile)
c.797G>T (p.Ser266Ile)
c.710G>T (p.Ser237Ile)
c.629G>T (p.Ser210Ile)
c.725G>T (p.Ser242Ile)
n.1223G>T
c.362G>T (p.Ser121Ile)
c.665G>T (p.Ser222Ile)
c.377G>T (p.Ser126Ile)
c.812G>T (p.Ser271Ile)
 dbSNP ExAC gnomAD v2
8g.71299145C=CA1792728348EYA1c.728G= (p.Ser243=)
c.626G= (p.Ser209=)
c.713G= (p.Ser238=)
c.*7G= (n.*7G=)
n.1191G=
c.*495G= (n.*495G=)
c.815G= (p.Ser272=)
c.800G= (p.Ser267=)
c.797G= (p.Ser266=)
c.710G= (p.Ser237=)
c.629G= (p.Ser210=)
c.725G= (p.Ser242=)
n.1223G=
c.362G= (p.Ser121=)
c.665G= (p.Ser222=)
c.377G= (p.Ser126=)
c.812G= (p.Ser271=)
8g.71299145C>GCA371467275EYA1c.728G>C (p.Ser243Thr)
c.626G>C (p.Ser209Thr)
c.713G>C (p.Ser238Thr)
c.*7G>C (n.*7G>C)
n.1191G>C
c.*495G>C (n.*495G>C)
c.815G>C (p.Ser272Thr)
c.800G>C (p.Ser267Thr)
c.797G>C (p.Ser266Thr)
c.710G>C (p.Ser237Thr)
c.629G>C (p.Ser210Thr)
c.725G>C (p.Ser242Thr)
n.1223G>C
c.362G>C (p.Ser121Thr)
c.665G>C (p.Ser222Thr)
c.377G>C (p.Ser126Thr)
c.812G>C (p.Ser271Thr)
8g.71299145C>TCA371467276EYA1c.728G>A (p.Ser243Asn)
c.626G>A (p.Ser209Asn)
c.713G>A (p.Ser238Asn)
c.*7G>A (n.*7G>A)
n.1191G>A
c.*495G>A (n.*495G>A)
c.815G>A (p.Ser272Asn)
c.800G>A (p.Ser267Asn)
c.797G>A (p.Ser266Asn)
c.710G>A (p.Ser237Asn)
c.629G>A (p.Ser210Asn)
c.725G>A (p.Ser242Asn)
n.1223G>A
c.362G>A (p.Ser121Asn)
c.665G>A (p.Ser222Asn)
c.377G>A (p.Ser126Asn)
c.812G>A (p.Ser271Asn)
 gnomAD v4
8g.71299146T>ACA371467277EYA1c.727A>T (p.Ser243Cys)
c.625A>T (p.Ser209Cys)
c.712A>T (p.Ser238Cys)
c.*6A>T (n.*6A>T)
n.1190A>T
c.*494A>T (n.*494A>T)
c.814A>T (p.Ser272Cys)
c.799A>T (p.Ser267Cys)
c.796A>T (p.Ser266Cys)
c.709A>T (p.Ser237Cys)
c.628A>T (p.Ser210Cys)
c.724A>T (p.Ser242Cys)
n.1222A>T
c.361A>T (p.Ser121Cys)
c.664A>T (p.Ser222Cys)
c.376A>T (p.Ser126Cys)
c.811A>T (p.Ser271Cys)
8g.71299146T>CCA371467279EYA1c.727A>G (p.Ser243Gly)
c.625A>G (p.Ser209Gly)
c.712A>G (p.Ser238Gly)
c.*6A>G (n.*6A>G)
n.1190A>G
c.*494A>G (n.*494A>G)
c.814A>G (p.Ser272Gly)
c.799A>G (p.Ser267Gly)
c.796A>G (p.Ser266Gly)
c.709A>G (p.Ser237Gly)
c.628A>G (p.Ser210Gly)
c.724A>G (p.Ser242Gly)
n.1222A>G
c.361A>G (p.Ser121Gly)
c.664A>G (p.Ser222Gly)
c.376A>G (p.Ser126Gly)
c.811A>G (p.Ser271Gly)
8g.71299146T>GCA371467278EYA1c.727A>C (p.Ser243Arg)
c.625A>C (p.Ser209Arg)
c.712A>C (p.Ser238Arg)
c.*6A>C (n.*6A>C)
n.1190A>C
c.*494A>C (n.*494A>C)
c.814A>C (p.Ser272Arg)
c.799A>C (p.Ser267Arg)
c.796A>C (p.Ser266Arg)
c.709A>C (p.Ser237Arg)
c.628A>C (p.Ser210Arg)
c.724A>C (p.Ser242Arg)
n.1222A>C
c.361A>C (p.Ser121Arg)
c.664A>C (p.Ser222Arg)
c.376A>C (p.Ser126Arg)
c.811A>C (p.Ser271Arg)
8g.71299147G>ACA461327876EYA1c.726C>T (p.Ser242=)
c.624C>T (p.Ser208=)
c.711C>T (p.Ser237=)
c.*5C>T (n.*5C>T)
n.1189C>T
c.*493C>T (n.*493C>T)
c.813C>T (p.Ser271=)
c.798C>T (p.Ser266=)
c.795C>T (p.Ser265=)
c.708C>T (p.Ser236=)
c.627C>T (p.Ser209=)
c.723C>T (p.Ser241=)
n.1221C>T
c.360C>T (p.Ser120=)
c.663C>T (p.Ser221=)
c.375C>T (p.Ser125=)
c.810C>T (p.Ser270=)
8g.71299147G>CCA371467280EYA1c.726C>G (p.Ser242Arg)
c.624C>G (p.Ser208Arg)
c.711C>G (p.Ser237Arg)
c.*5C>G (n.*5C>G)
n.1189C>G
c.*493C>G (n.*493C>G)
c.813C>G (p.Ser271Arg)
c.798C>G (p.Ser266Arg)
c.795C>G (p.Ser265Arg)
c.708C>G (p.Ser236Arg)
c.627C>G (p.Ser209Arg)
c.723C>G (p.Ser241Arg)
n.1221C>G
c.360C>G (p.Ser120Arg)
c.663C>G (p.Ser221Arg)
c.375C>G (p.Ser125Arg)
c.810C>G (p.Ser270Arg)
 gnomAD v4
8g.71299147G>TCA371467281EYA1c.726C>A (p.Ser242Arg)
c.624C>A (p.Ser208Arg)
c.711C>A (p.Ser237Arg)
c.*5C>A (n.*5C>A)
n.1189C>A
c.*493C>A (n.*493C>A)
c.813C>A (p.Ser271Arg)
c.798C>A (p.Ser266Arg)
c.795C>A (p.Ser265Arg)
c.708C>A (p.Ser236Arg)
c.627C>A (p.Ser209Arg)
c.723C>A (p.Ser241Arg)
n.1221C>A
c.360C>A (p.Ser120Arg)
c.663C>A (p.Ser221Arg)
c.375C>A (p.Ser125Arg)
c.810C>A (p.Ser270Arg)
8g.71299148C>ACA371467282EYA1c.725G>T (p.Ser242Ile)
c.623G>T (p.Ser208Ile)
c.710G>T (p.Ser237Ile)
c.*4G>T (n.*4G>T)
n.1188G>T
c.*492G>T (n.*492G>T)
c.812G>T (p.Ser271Ile)
c.797G>T (p.Ser266Ile)
c.794G>T (p.Ser265Ile)
c.707G>T (p.Ser236Ile)
c.626G>T (p.Ser209Ile)
c.722G>T (p.Ser241Ile)
n.1220G>T
c.359G>T (p.Ser120Ile)
c.662G>T (p.Ser221Ile)
c.374G>T (p.Ser125Ile)
c.809G>T (p.Ser270Ile)
8g.71299148C>GCA371467283EYA1c.725G>C (p.Ser242Thr)
c.623G>C (p.Ser208Thr)
c.710G>C (p.Ser237Thr)
c.*4G>C (n.*4G>C)
n.1188G>C
c.*492G>C (n.*492G>C)
c.812G>C (p.Ser271Thr)
c.797G>C (p.Ser266Thr)
c.794G>C (p.Ser265Thr)
c.707G>C (p.Ser236Thr)
c.626G>C (p.Ser209Thr)
c.722G>C (p.Ser241Thr)
n.1220G>C
c.359G>C (p.Ser120Thr)
c.662G>C (p.Ser221Thr)
c.374G>C (p.Ser125Thr)
c.809G>C (p.Ser270Thr)
8g.71299148C>TCA371467284EYA1c.725G>A (p.Ser242Asn)
c.623G>A (p.Ser208Asn)
c.710G>A (p.Ser237Asn)
c.*4G>A (n.*4G>A)
n.1188G>A
c.*492G>A (n.*492G>A)
c.812G>A (p.Ser271Asn)
c.797G>A (p.Ser266Asn)
c.794G>A (p.Ser265Asn)
c.707G>A (p.Ser236Asn)
c.626G>A (p.Ser209Asn)
c.722G>A (p.Ser241Asn)
n.1220G>A
c.359G>A (p.Ser120Asn)
c.662G>A (p.Ser221Asn)
c.374G>A (p.Ser125Asn)
c.809G>A (p.Ser270Asn)
 gnomAD v4 COSMIC
8g.71299149T>ACA371467285EYA1c.724A>T (p.Ser242Cys)
c.622A>T (p.Ser208Cys)
c.709A>T (p.Ser237Cys)
c.*3A>T (n.*3A>T)
n.1187A>T
c.*491A>T (n.*491A>T)
c.811A>T (p.Ser271Cys)
c.796A>T (p.Ser266Cys)
c.793A>T (p.Ser265Cys)
c.706A>T (p.Ser236Cys)
c.625A>T (p.Ser209Cys)
c.721A>T (p.Ser241Cys)
n.1219A>T
c.358A>T (p.Ser120Cys)
c.661A>T (p.Ser221Cys)
c.373A>T (p.Ser125Cys)
c.808A>T (p.Ser270Cys)
8g.71299149T>CCA4779679EYA1c.724A>G (p.Ser242Gly)
c.622A>G (p.Ser208Gly)
c.709A>G (p.Ser237Gly)
c.*3A>G (n.*3A>G)
n.1187A>G
c.*491A>G (n.*491A>G)
c.811A>G (p.Ser271Gly)
c.796A>G (p.Ser266Gly)
c.793A>G (p.Ser265Gly)
c.706A>G (p.Ser236Gly)
c.625A>G (p.Ser209Gly)
c.721A>G (p.Ser241Gly)
n.1219A>G
c.358A>G (p.Ser120Gly)
c.661A>G (p.Ser221Gly)
c.373A>G (p.Ser125Gly)
c.808A>G (p.Ser270Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299149T>GCA371467286EYA1c.724A>C (p.Ser242Arg)
c.622A>C (p.Ser208Arg)
c.709A>C (p.Ser237Arg)
c.*3A>C (n.*3A>C)
n.1187A>C
c.*491A>C (n.*491A>C)
c.811A>C (p.Ser271Arg)
c.796A>C (p.Ser266Arg)
c.793A>C (p.Ser265Arg)
c.706A>C (p.Ser236Arg)
c.625A>C (p.Ser209Arg)
c.721A>C (p.Ser241Arg)
n.1219A>C
c.358A>C (p.Ser120Arg)
c.661A>C (p.Ser221Arg)
c.373A>C (p.Ser125Arg)
c.808A>C (p.Ser270Arg)
8g.71299149T=CA1792728349EYA1c.724A= (p.Ser242=)
c.622A= (p.Ser208=)
c.709A= (p.Ser237=)
c.*3A= (n.*3A=)
n.1187A=
c.*491A= (n.*491A=)
c.811A= (p.Ser271=)
c.796A= (p.Ser266=)
c.793A= (p.Ser265=)
c.706A= (p.Ser236=)
c.625A= (p.Ser209=)
c.721A= (p.Ser241=)
n.1219A=
c.358A= (p.Ser120=)
c.661A= (p.Ser221=)
c.373A= (p.Ser125=)
c.808A= (p.Ser270=)
8g.71299150G>ACA461327877EYA1c.723C>T (p.Thr241=)
c.621C>T (p.Thr207=)
c.708C>T (p.Thr236=)
c.*2C>T (n.*2C>T)
n.1186C>T
c.*490C>T (n.*490C>T)
c.810C>T (p.Thr270=)
c.795C>T (p.Thr265=)
c.792C>T (p.Thr264=)
c.705C>T (p.Thr235=)
c.624C>T (p.Thr208=)
c.720C>T (p.Thr240=)
n.1218C>T
c.357C>T (p.Thr119=)
c.660C>T (p.Thr220=)
c.372C>T (p.Thr124=)
c.807C>T (p.Thr269=)
 gnomAD v4
8g.71299150G>CCA461327878EYA1c.723C>G (p.Thr241=)
c.621C>G (p.Thr207=)
c.708C>G (p.Thr236=)
c.*2C>G (n.*2C>G)
n.1186C>G
c.*490C>G (n.*490C>G)
c.810C>G (p.Thr270=)
c.795C>G (p.Thr265=)
c.792C>G (p.Thr264=)
c.705C>G (p.Thr235=)
c.624C>G (p.Thr208=)
c.720C>G (p.Thr240=)
n.1218C>G
c.357C>G (p.Thr119=)
c.660C>G (p.Thr220=)
c.372C>G (p.Thr124=)
c.807C>G (p.Thr269=)
8g.71299150G>TCA461327879EYA1c.723C>A (p.Thr241=)
c.621C>A (p.Thr207=)
c.708C>A (p.Thr236=)
c.*2C>A (n.*2C>A)
n.1186C>A
c.*490C>A (n.*490C>A)
c.810C>A (p.Thr270=)
c.795C>A (p.Thr265=)
c.792C>A (p.Thr264=)
c.705C>A (p.Thr235=)
c.624C>A (p.Thr208=)
c.720C>A (p.Thr240=)
n.1218C>A
c.357C>A (p.Thr119=)
c.660C>A (p.Thr220=)
c.372C>A (p.Thr124=)
c.807C>A (p.Thr269=)
8g.71299151G>ACA371467287EYA1c.722C>T (p.Thr241Ile)
c.620C>T (p.Thr207Ile)
c.707C>T (p.Thr236Ile)
c.*1C>T (n.*1C>T)
n.1185C>T
c.*489C>T (n.*489C>T)
c.809C>T (p.Thr270Ile)
c.794C>T (p.Thr265Ile)
c.791C>T (p.Thr264Ile)
c.704C>T (p.Thr235Ile)
c.623C>T (p.Thr208Ile)
c.719C>T (p.Thr240Ile)
n.1217C>T
c.356C>T (p.Thr119Ile)
c.659C>T (p.Thr220Ile)
c.371C>T (p.Thr124Ile)
c.806C>T (p.Thr269Ile)
8g.71299151G>CCA371467288EYA1c.722C>G (p.Thr241Ser)
c.620C>G (p.Thr207Ser)
c.707C>G (p.Thr236Ser)
c.*1C>G (n.*1C>G)
n.1185C>G
c.*489C>G (n.*489C>G)
c.809C>G (p.Thr270Ser)
c.794C>G (p.Thr265Ser)
c.791C>G (p.Thr264Ser)
c.704C>G (p.Thr235Ser)
c.623C>G (p.Thr208Ser)
c.719C>G (p.Thr240Ser)
n.1217C>G
c.356C>G (p.Thr119Ser)
c.659C>G (p.Thr220Ser)
c.371C>G (p.Thr124Ser)
c.806C>G (p.Thr269Ser)
8g.71299151G>TCA371467289EYA1c.722C>A (p.Thr241Asn)
c.620C>A (p.Thr207Asn)
c.707C>A (p.Thr236Asn)
c.*1C>A (n.*1C>A)
n.1185C>A
c.*489C>A (n.*489C>A)
c.809C>A (p.Thr270Asn)
c.794C>A (p.Thr265Asn)
c.791C>A (p.Thr264Asn)
c.704C>A (p.Thr235Asn)
c.623C>A (p.Thr208Asn)
c.719C>A (p.Thr240Asn)
n.1217C>A
c.356C>A (p.Thr119Asn)
c.659C>A (p.Thr220Asn)
c.371C>A (p.Thr124Asn)
c.806C>A (p.Thr269Asn)
 gnomAD v4
8g.71299152T>ACA371467290EYA1c.721A>T (p.Thr241Ser)
c.619A>T (p.Thr207Ser)
c.706A>T (p.Thr236Ser)
c.639A>T (p.Ter213Cys)
n.1184A>T
c.*488A>T (n.*488A>T)
c.808A>T (p.Thr270Ser)
c.793A>T (p.Thr265Ser)
c.790A>T (p.Thr264Ser)
c.703A>T (p.Thr235Ser)
c.622A>T (p.Thr208Ser)
c.718A>T (p.Thr240Ser)
n.1216A>T
c.355A>T (p.Thr119Ser)
c.658A>T (p.Thr220Ser)
c.370A>T (p.Thr124Ser)
c.805A>T (p.Thr269Ser)
8g.71299152T>CCA371467291EYA1c.721A>G (p.Thr241Ala)
c.619A>G (p.Thr207Ala)
c.706A>G (p.Thr236Ala)
c.639A>G (p.Ter213Trp)
n.1184A>G
c.*488A>G (n.*488A>G)
c.808A>G (p.Thr270Ala)
c.793A>G (p.Thr265Ala)
c.790A>G (p.Thr264Ala)
c.703A>G (p.Thr235Ala)
c.622A>G (p.Thr208Ala)
c.718A>G (p.Thr240Ala)
n.1216A>G
c.355A>G (p.Thr119Ala)
c.658A>G (p.Thr220Ala)
c.370A>G (p.Thr124Ala)
c.805A>G (p.Thr269Ala)
8g.71299152T>GCA371467292EYA1c.721A>C (p.Thr241Pro)
c.619A>C (p.Thr207Pro)
c.706A>C (p.Thr236Pro)
c.639A>C (p.Ter213Cys)
n.1184A>C
c.*488A>C (n.*488A>C)
c.808A>C (p.Thr270Pro)
c.793A>C (p.Thr265Pro)
c.790A>C (p.Thr264Pro)
c.703A>C (p.Thr235Pro)
c.622A>C (p.Thr208Pro)
c.718A>C (p.Thr240Pro)
n.1216A>C
c.355A>C (p.Thr119Pro)
c.658A>C (p.Thr220Pro)
c.370A>C (p.Thr124Pro)
c.805A>C (p.Thr269Pro)
 dbSNP
8g.71299152T=CA1792728350EYA1c.721A= (p.Thr241=)
c.619A= (p.Thr207=)
c.706A= (p.Thr236=)
c.639A= (p.Ter213=)
n.1184A=
c.*488A= (n.*488A=)
c.808A= (p.Thr270=)
c.793A= (p.Thr265=)
c.790A= (p.Thr264=)
c.703A= (p.Thr235=)
c.622A= (p.Thr208=)
c.718A= (p.Thr240=)
n.1216A=
c.355A= (p.Thr119=)
c.658A= (p.Thr220=)
c.370A= (p.Thr124=)
c.805A= (p.Thr269=)
8g.71299153C>ACA371467293EYA1c.720G>T (p.Met240Ile)
c.618G>T (p.Met206Ile)
c.705G>T (p.Met235Ile)
c.638G>T (p.Ter213Leu)
n.1183G>T
c.*487G>T (n.*487G>T)
c.807G>T (p.Met269Ile)
c.792G>T (p.Met264Ile)
c.789G>T (p.Met263Ile)
c.702G>T (p.Met234Ile)
c.621G>T (p.Met207Ile)
c.717G>T (p.Met239Ile)
n.1215G>T
c.354G>T (p.Met118Ile)
c.657G>T (p.Met219Ile)
c.369G>T (p.Met123Ile)
c.804G>T (p.Met268Ile)
8g.71299153C>GCA371467294EYA1c.720G>C (p.Met240Ile)
c.618G>C (p.Met206Ile)
c.705G>C (p.Met235Ile)
c.638G>C (p.Ter213Ser)
n.1183G>C
c.*487G>C (n.*487G>C)
c.807G>C (p.Met269Ile)
c.792G>C (p.Met264Ile)
c.789G>C (p.Met263Ile)
c.702G>C (p.Met234Ile)
c.621G>C (p.Met207Ile)
c.717G>C (p.Met239Ile)
n.1215G>C
c.354G>C (p.Met118Ile)
c.657G>C (p.Met219Ile)
c.369G>C (p.Met123Ile)
c.804G>C (p.Met268Ile)
8g.71299153C>TCA371467295EYA1c.720G>A (p.Met240Ile)
c.618G>A (p.Met206Ile)
c.705G>A (p.Met235Ile)
c.638G>A (p.Ter213=)
n.1183G>A
c.*487G>A (n.*487G>A)
c.807G>A (p.Met269Ile)
c.792G>A (p.Met264Ile)
c.789G>A (p.Met263Ile)
c.702G>A (p.Met234Ile)
c.621G>A (p.Met207Ile)
c.717G>A (p.Met239Ile)
n.1215G>A
c.354G>A (p.Met118Ile)
c.657G>A (p.Met219Ile)
c.369G>A (p.Met123Ile)
c.804G>A (p.Met268Ile)
8g.71299154A>CCA371467296EYA1c.719T>G (p.Met240Arg)
c.617T>G (p.Met206Arg)
c.704T>G (p.Met235Arg)
c.637T>G (p.Ter213Gly)
n.1182T>G
c.*486T>G (n.*486T>G)
c.806T>G (p.Met269Arg)
c.791T>G (p.Met264Arg)
c.788T>G (p.Met263Arg)
c.701T>G (p.Met234Arg)
c.620T>G (p.Met207Arg)
c.716T>G (p.Met239Arg)
n.1214T>G
c.353T>G (p.Met118Arg)
c.656T>G (p.Met219Arg)
c.368T>G (p.Met123Arg)
c.803T>G (p.Met268Arg)
8g.71299154A>GCA371467297EYA1c.719T>C (p.Met240Thr)
c.617T>C (p.Met206Thr)
c.704T>C (p.Met235Thr)
c.637T>C (p.Ter213Arg)
n.1182T>C
c.*486T>C (n.*486T>C)
c.806T>C (p.Met269Thr)
c.791T>C (p.Met264Thr)
c.788T>C (p.Met263Thr)
c.701T>C (p.Met234Thr)
c.620T>C (p.Met207Thr)
c.716T>C (p.Met239Thr)
n.1214T>C
c.353T>C (p.Met118Thr)
c.656T>C (p.Met219Thr)
c.368T>C (p.Met123Thr)
c.803T>C (p.Met268Thr)
8g.71299154A>TCA371467298EYA1c.719T>A (p.Met240Lys)
c.617T>A (p.Met206Lys)
c.704T>A (p.Met235Lys)
c.637T>A (p.Ter213Arg)
n.1182T>A
c.*486T>A (n.*486T>A)
c.806T>A (p.Met269Lys)
c.791T>A (p.Met264Lys)
c.788T>A (p.Met263Lys)
c.701T>A (p.Met234Lys)
c.620T>A (p.Met207Lys)
c.716T>A (p.Met239Lys)
n.1214T>A
c.353T>A (p.Met118Lys)
c.656T>A (p.Met219Lys)
c.368T>A (p.Met123Lys)
c.803T>A (p.Met268Lys)
8g.71299155T>ACA371467299EYA1c.718A>T (p.Met240Leu)
c.616A>T (p.Met206Leu)
c.703A>T (p.Met235Leu)
c.636A>T (p.Ile212=)
n.1181A>T
c.*485A>T (n.*485A>T)
c.805A>T (p.Met269Leu)
c.790A>T (p.Met264Leu)
c.787A>T (p.Met263Leu)
c.700A>T (p.Met234Leu)
c.619A>T (p.Met207Leu)
c.715A>T (p.Met239Leu)
n.1213A>T
c.352A>T (p.Met118Leu)
c.655A>T (p.Met219Leu)
c.367A>T (p.Met123Leu)
c.802A>T (p.Met268Leu)
8g.71299155T>CCA4779680EYA1c.718A>G (p.Met240Val)
c.616A>G (p.Met206Val)
c.703A>G (p.Met235Val)
c.636A>G (p.Ile212Met)
n.1181A>G
c.*485A>G (n.*485A>G)
c.805A>G (p.Met269Val)
c.790A>G (p.Met264Val)
c.787A>G (p.Met263Val)
c.700A>G (p.Met234Val)
c.619A>G (p.Met207Val)
c.715A>G (p.Met239Val)
n.1213A>G
c.352A>G (p.Met118Val)
c.655A>G (p.Met219Val)
c.367A>G (p.Met123Val)
c.802A>G (p.Met268Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.71299155T>GCA371467300EYA1c.718A>C (p.Met240Leu)
c.616A>C (p.Met206Leu)
c.703A>C (p.Met235Leu)
c.636A>C (p.Ile212=)
n.1181A>C
c.*485A>C (n.*485A>C)
c.805A>C (p.Met269Leu)
c.790A>C (p.Met264Leu)
c.787A>C (p.Met263Leu)
c.700A>C (p.Met234Leu)
c.619A>C (p.Met207Leu)
c.715A>C (p.Met239Leu)
n.1213A>C
c.352A>C (p.Met118Leu)
c.655A>C (p.Met219Leu)
c.367A>C (p.Met123Leu)
c.802A>C (p.Met268Leu)
8g.71299155T=CA1792728351EYA1c.718A= (p.Met240=)
c.616A= (p.Met206=)
c.703A= (p.Met235=)
c.636A= (p.Ile212=)
n.1181A=
c.*485A= (n.*485A=)
c.805A= (p.Met269=)
c.790A= (p.Met264=)
c.787A= (p.Met263=)
c.700A= (p.Met234=)
c.619A= (p.Met207=)
c.715A= (p.Met239=)
n.1213A=
c.352A= (p.Met118=)
c.655A= (p.Met219=)
c.367A= (p.Met123=)
c.802A= (p.Met268=)
8g.71299156A=CA1792728352EYA1c.717T= (p.Tyr239=)
c.615T= (p.Tyr205=)
c.702T= (p.Tyr234=)
c.635T= (p.Ile212=)
n.1180T=
c.*484T= (n.*484T=)
c.804T= (p.Tyr268=)
c.789T= (p.Tyr263=)
c.786T= (p.Tyr262=)
c.699T= (p.Tyr233=)
c.618T= (p.Tyr206=)
c.714T= (p.Tyr238=)
n.1212T=
c.351T= (p.Tyr117=)
c.654T= (p.Tyr218=)
c.366T= (p.Tyr122=)
c.801T= (p.Tyr267=)
8g.71299156A>CCA371467301EYA1c.717T>G (p.Tyr239Ter)
c.615T>G (p.Tyr205Ter)
c.702T>G (p.Tyr234Ter)
c.635T>G (p.Ile212Arg)
n.1180T>G
c.*484T>G (n.*484T>G)
c.804T>G (p.Tyr268Ter)
c.789T>G (p.Tyr263Ter)
c.786T>G (p.Tyr262Ter)
c.699T>G (p.Tyr233Ter)
c.618T>G (p.Tyr206Ter)
c.714T>G (p.Tyr238Ter)
n.1212T>G
c.351T>G (p.Tyr117Ter)
c.654T>G (p.Tyr218Ter)
c.366T>G (p.Tyr122Ter)
c.801T>G (p.Tyr267Ter)
 ClinVar
8g.71299156A>GCA4779681EYA1c.717T>C (p.Tyr239=)
c.615T>C (p.Tyr205=)
c.702T>C (p.Tyr234=)
c.635T>C (p.Ile212Thr)
n.1180T>C
c.*484T>C (n.*484T>C)
c.804T>C (p.Tyr268=)
c.789T>C (p.Tyr263=)
c.786T>C (p.Tyr262=)
c.699T>C (p.Tyr233=)
c.618T>C (p.Tyr206=)
c.714T>C (p.Tyr238=)
n.1212T>C
c.351T>C (p.Tyr117=)
c.654T>C (p.Tyr218=)
c.366T>C (p.Tyr122=)
c.801T>C (p.Tyr267=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71299156A>TCA371467302EYA1c.717T>A (p.Tyr239Ter)
c.615T>A (p.Tyr205Ter)
c.702T>A (p.Tyr234Ter)
c.635T>A (p.Ile212Lys)
n.1180T>A
c.*484T>A (n.*484T>A)
c.804T>A (p.Tyr268Ter)
c.789T>A (p.Tyr263Ter)
c.786T>A (p.Tyr262Ter)
c.699T>A (p.Tyr233Ter)
c.618T>A (p.Tyr206Ter)
c.714T>A (p.Tyr238Ter)
n.1212T>A
c.351T>A (p.Tyr117Ter)
c.654T>A (p.Tyr218Ter)
c.366T>A (p.Tyr122Ter)
c.801T>A (p.Tyr267Ter)
8g.71299157T>ACA371467303EYA1c.716A>T (p.Tyr239Phe)
c.614A>T (p.Tyr205Phe)
c.701A>T (p.Tyr234Phe)
c.634A>T (p.Ile212Leu)
n.1179A>T
c.*483A>T (n.*483A>T)
c.803A>T (p.Tyr268Phe)
c.788A>T (p.Tyr263Phe)
c.785A>T (p.Tyr262Phe)
c.698A>T (p.Tyr233Phe)
c.617A>T (p.Tyr206Phe)
c.713A>T (p.Tyr238Phe)
n.1211A>T
c.350A>T (p.Tyr117Phe)
c.653A>T (p.Tyr218Phe)
c.365A>T (p.Tyr122Phe)
c.800A>T (p.Tyr267Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.71299157T>CCA4779682EYA1c.716A>G (p.Tyr239Cys)
c.614A>G (p.Tyr205Cys)
c.701A>G (p.Tyr234Cys)
c.634A>G (p.Ile212Val)
n.1179A>G
c.*483A>G (n.*483A>G)
c.803A>G (p.Tyr268Cys)
c.788A>G (p.Tyr263Cys)
c.785A>G (p.Tyr262Cys)
c.698A>G (p.Tyr233Cys)
c.617A>G (p.Tyr206Cys)
c.713A>G (p.Tyr238Cys)
n.1211A>G
c.350A>G (p.Tyr117Cys)
c.653A>G (p.Tyr218Cys)
c.365A>G (p.Tyr122Cys)
c.800A>G (p.Tyr267Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71299157T>GCA371467304EYA1c.716A>C (p.Tyr239Ser)
c.614A>C (p.Tyr205Ser)
c.701A>C (p.Tyr234Ser)
c.634A>C (p.Ile212Leu)
n.1179A>C
c.*483A>C (n.*483A>C)
c.803A>C (p.Tyr268Ser)
c.788A>C (p.Tyr263Ser)
c.785A>C (p.Tyr262Ser)
c.698A>C (p.Tyr233Ser)
c.617A>C (p.Tyr206Ser)
c.713A>C (p.Tyr238Ser)
n.1211A>C
c.350A>C (p.Tyr117Ser)
c.653A>C (p.Tyr218Ser)
c.365A>C (p.Tyr122Ser)
c.800A>C (p.Tyr267Ser)
8g.71299157T=CA1792728353EYA1c.716A= (p.Tyr239=)
c.614A= (p.Tyr205=)
c.701A= (p.Tyr234=)
c.634A= (p.Ile212=)
n.1179A=
c.*483A= (n.*483A=)
c.803A= (p.Tyr268=)
c.788A= (p.Tyr263=)
c.785A= (p.Tyr262=)
c.698A= (p.Tyr233=)
c.617A= (p.Tyr206=)
c.713A= (p.Tyr238=)
n.1211A=
c.350A= (p.Tyr117=)
c.653A= (p.Tyr218=)
c.365A= (p.Tyr122=)
c.800A= (p.Tyr267=)
8g.71299158A=CA1792728354EYA1c.715T= (p.Tyr239=)
c.613T= (p.Tyr205=)
c.700T= (p.Tyr234=)
c.633T= (p.Ile211=)
n.1178T=
c.*482T= (n.*482T=)
c.802T= (p.Tyr268=)
c.787T= (p.Tyr263=)
c.784T= (p.Tyr262=)
c.697T= (p.Tyr233=)
c.616T= (p.Tyr206=)
c.712T= (p.Tyr238=)
n.1210T=
c.349T= (p.Tyr117=)
c.652T= (p.Tyr218=)
c.364T= (p.Tyr122=)
c.799T= (p.Tyr267=)
8g.71299158A>CCA371467307EYA1c.715T>G (p.Tyr239Asp)
c.613T>G (p.Tyr205Asp)
c.700T>G (p.Tyr234Asp)
c.633T>G (p.Ile211Met)
n.1178T>G
c.*482T>G (n.*482T>G)
c.802T>G (p.Tyr268Asp)
c.787T>G (p.Tyr263Asp)
c.784T>G (p.Tyr262Asp)
c.697T>G (p.Tyr233Asp)
c.616T>G (p.Tyr206Asp)
c.712T>G (p.Tyr238Asp)
n.1210T>G
c.349T>G (p.Tyr117Asp)
c.652T>G (p.Tyr218Asp)
c.364T>G (p.Tyr122Asp)
c.799T>G (p.Tyr267Asp)
8g.71299158A>GCA371467305EYA1c.715T>C (p.Tyr239His)
c.613T>C (p.Tyr205His)
c.700T>C (p.Tyr234His)
c.633T>C (p.Ile211=)
n.1178T>C
c.*482T>C (n.*482T>C)
c.802T>C (p.Tyr268His)
c.787T>C (p.Tyr263His)
c.784T>C (p.Tyr262His)
c.697T>C (p.Tyr233His)
c.616T>C (p.Tyr206His)
c.712T>C (p.Tyr238His)
n.1210T>C
c.349T>C (p.Tyr117His)
c.652T>C (p.Tyr218His)
c.364T>C (p.Tyr122His)
c.799T>C (p.Tyr267His)
8g.71299158A>TCA371467306EYA1c.715T>A (p.Tyr239Asn)
c.613T>A (p.Tyr205Asn)
c.700T>A (p.Tyr234Asn)
c.633T>A (p.Ile211=)
n.1178T>A
c.*482T>A (n.*482T>A)
c.802T>A (p.Tyr268Asn)
c.787T>A (p.Tyr263Asn)
c.784T>A (p.Tyr262Asn)
c.697T>A (p.Tyr233Asn)
c.616T>A (p.Tyr206Asn)
c.712T>A (p.Tyr238Asn)
n.1210T>A
c.349T>A (p.Tyr117Asn)
c.652T>A (p.Tyr218Asn)
c.364T>A (p.Tyr122Asn)
c.799T>A (p.Tyr267Asn)
8g.71299159dupCA2695209787EYA1c.715dup (p.Tyr239LeufsTer?)
c.613dup (p.Tyr205LeufsTer?)
c.700dup (p.Tyr234LeufsTer?)
c.633dup (p.Ile212TyrfsTer?)
n.1178dup
c.*482dup (n.*482dup)
c.802dup (p.Tyr268LeufsTer?)
c.787dup (p.Tyr263LeufsTer?)
c.784dup (p.Tyr262LeufsTer?)
c.697dup (p.Tyr233LeufsTer?)
c.616dup (p.Tyr206LeufsTer?)
c.712dup (p.Tyr238LeufsTer?)
n.1210dup
c.349dup (p.Tyr117LeufsTer?)
c.652dup (p.Tyr218LeufsTer?)
c.364dup (p.Tyr122LeufsTer?)
c.799dup (p.Tyr267LeufsTer?)
8g.71299158_71299159insTTCCA1792728355EYA1c.714_715insGAA (p.His238_Tyr239insGlu)
c.612_613insGAA (p.His204_Tyr205insGlu)
c.699_700insGAA (p.His233_Tyr234insGlu)
c.632_633insGAA (p.Ile211delinsMetAsn)
n.1177_1178insGAA
c.*481_*482insGAA (n.*481_*482insGAA)
c.801_802insGAA (p.His267_Tyr268insGlu)
c.786_787insGAA (p.His262_Tyr263insGlu)
c.783_784insGAA (p.His261_Tyr262insGlu)
c.696_697insGAA (p.His232_Tyr233insGlu)
c.615_616insGAA (p.His205_Tyr206insGlu)
c.711_712insGAA (p.His237_Tyr238insGlu)
n.1209_1210insGAA
c.348_349insGAA (p.His116_Tyr117insGlu)
c.651_652insGAA (p.His217_Tyr218insGlu)
c.363_364insGAA (p.His121_Tyr122insGlu)
c.798_799insGAA (p.His266_Tyr267insGlu)
 dbSNP
8g.71299159A>CCA371467308EYA1c.714T>G (p.His238Gln)
c.612T>G (p.His204Gln)
c.699T>G (p.His233Gln)
c.632T>G (p.Ile211Ser)
n.1177T>G
c.*481T>G (n.*481T>G)
c.801T>G (p.His267Gln)
c.786T>G (p.His262Gln)
c.783T>G (p.His261Gln)
c.696T>G (p.His232Gln)
c.615T>G (p.His205Gln)
c.711T>G (p.His237Gln)
n.1209T>G
c.348T>G (p.His116Gln)
c.651T>G (p.His217Gln)
c.363T>G (p.His121Gln)
c.798T>G (p.His266Gln)
8g.71299159A>GCA461327880EYA1c.714T>C (p.His238=)
c.612T>C (p.His204=)
c.699T>C (p.His233=)
c.632T>C (p.Ile211Thr)
n.1177T>C
c.*481T>C (n.*481T>C)
c.801T>C (p.His267=)
c.786T>C (p.His262=)
c.783T>C (p.His261=)
c.696T>C (p.His232=)
c.615T>C (p.His205=)
c.711T>C (p.His237=)
n.1209T>C
c.348T>C (p.His116=)
c.651T>C (p.His217=)
c.363T>C (p.His121=)
c.798T>C (p.His266=)
8g.71299159A>TCA371467309EYA1c.714T>A (p.His238Gln)
c.612T>A (p.His204Gln)
c.699T>A (p.His233Gln)
c.632T>A (p.Ile211Asn)
n.1177T>A
c.*481T>A (n.*481T>A)
c.801T>A (p.His267Gln)
c.786T>A (p.His262Gln)
c.783T>A (p.His261Gln)
c.696T>A (p.His232Gln)
c.615T>A (p.His205Gln)
c.711T>A (p.His237Gln)
n.1209T>A
c.348T>A (p.His116Gln)
c.651T>A (p.His217Gln)
c.363T>A (p.His121Gln)
c.798T>A (p.His266Gln)
8g.71299160T>ACA371467310EYA1c.713A>T (p.His238Leu)
c.611A>T (p.His204Leu)
c.698A>T (p.His233Leu)
c.631A>T (p.Ile211Phe)
n.1176A>T
c.*480A>T (n.*480A>T)
c.800A>T (p.His267Leu)
c.785A>T (p.His262Leu)
c.782A>T (p.His261Leu)
c.695A>T (p.His232Leu)
c.614A>T (p.His205Leu)
c.710A>T (p.His237Leu)
n.1208A>T
c.347A>T (p.His116Leu)
c.650A>T (p.His217Leu)
c.362A>T (p.His121Leu)
c.797A>T (p.His266Leu)
8g.71299160T>CCA371467311EYA1c.713A>G (p.His238Arg)
c.611A>G (p.His204Arg)
c.698A>G (p.His233Arg)
c.631A>G (p.Ile211Val)
n.1176A>G
c.*480A>G (n.*480A>G)
c.800A>G (p.His267Arg)
c.785A>G (p.His262Arg)
c.782A>G (p.His261Arg)
c.695A>G (p.His232Arg)
c.614A>G (p.His205Arg)
c.710A>G (p.His237Arg)
n.1208A>G
c.347A>G (p.His116Arg)
c.650A>G (p.His217Arg)
c.362A>G (p.His121Arg)
c.797A>G (p.His266Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71299160T>GCA371467312EYA1c.713A>C (p.His238Pro)
c.611A>C (p.His204Pro)
c.698A>C (p.His233Pro)
c.631A>C (p.Ile211Leu)
n.1176A>C
c.*480A>C (n.*480A>C)
c.800A>C (p.His267Pro)
c.785A>C (p.His262Pro)
c.782A>C (p.His261Pro)
c.695A>C (p.His232Pro)
c.614A>C (p.His205Pro)
c.710A>C (p.His237Pro)
n.1208A>C
c.347A>C (p.His116Pro)
c.650A>C (p.His217Pro)
c.362A>C (p.His121Pro)
c.797A>C (p.His266Pro)
8g.71299160T=CA1792728356EYA1c.713A= (p.His238=)
c.611A= (p.His204=)
c.698A= (p.His233=)
c.631A= (p.Ile211=)
n.1176A=
c.*480A= (n.*480A=)
c.800A= (p.His267=)
c.785A= (p.His262=)
c.782A= (p.His261=)
c.695A= (p.His232=)
c.614A= (p.His205=)
c.710A= (p.His237=)
n.1208A=
c.347A= (p.His116=)
c.650A= (p.His217=)
c.362A= (p.His121=)
c.797A= (p.His266=)
8g.71299161G>ACA371467313EYA1c.712C>T (p.His238Tyr)
c.610C>T (p.His204Tyr)
c.697C>T (p.His233Tyr)
c.630C>T (p.His210=)
n.1175C>T
c.*479C>T (n.*479C>T)
c.799C>T (p.His267Tyr)
c.784C>T (p.His262Tyr)
c.781C>T (p.His261Tyr)
c.694C>T (p.His232Tyr)
c.613C>T (p.His205Tyr)
c.709C>T (p.His237Tyr)
n.1207C>T
c.346C>T (p.His116Tyr)
c.649C>T (p.His217Tyr)
c.361C>T (p.His121Tyr)
c.796C>T (p.His266Tyr)
8g.71299161G>CCA371467315EYA1c.712C>G (p.His238Asp)
c.610C>G (p.His204Asp)
c.697C>G (p.His233Asp)
c.630C>G (p.His210Gln)
n.1175C>G
c.*479C>G (n.*479C>G)
c.799C>G (p.His267Asp)
c.784C>G (p.His262Asp)
c.781C>G (p.His261Asp)
c.694C>G (p.His232Asp)
c.613C>G (p.His205Asp)
c.709C>G (p.His237Asp)
n.1207C>G
c.346C>G (p.His116Asp)
c.649C>G (p.His217Asp)
c.361C>G (p.His121Asp)
c.796C>G (p.His266Asp)
8g.71299161G>TCA371467314EYA1c.712C>A (p.His238Asn)
c.610C>A (p.His204Asn)
c.697C>A (p.His233Asn)
c.630C>A (p.His210Gln)
n.1175C>A
c.*479C>A (n.*479C>A)
c.799C>A (p.His267Asn)
c.784C>A (p.His262Asn)
c.781C>A (p.His261Asn)
c.694C>A (p.His232Asn)
c.613C>A (p.His205Asn)
c.709C>A (p.His237Asn)
n.1207C>A
c.346C>A (p.His116Asn)
c.649C>A (p.His217Asn)
c.361C>A (p.His121Asn)
c.796C>A (p.His266Asn)
 COSMIC COSMIC
8g.71299161_71299162insCAGCA2569512092EYA1c.712_713insTGC (p.Ala237_His238insLeu)
c.610_611insTGC (p.Ala203_His204insLeu)
c.697_698insTGC (p.Ala232_His233insLeu)
c.630_631insTGC (p.His210_Ile211insCys)
n.1175_1176insTGC
c.*479_*480insTGC (n.*479_*480insTGC)
c.799_800insTGC (p.Ala266_His267insLeu)
c.784_785insTGC (p.Ala261_His262insLeu)
c.781_782insTGC (p.Ala260_His261insLeu)
c.694_695insTGC (p.Ala231_His232insLeu)
c.613_614insTGC (p.Ala204_His205insLeu)
c.709_710insTGC (p.Ala236_His237insLeu)
n.1207_1208insTGC
c.346_347insTGC (p.Ala115_His116insLeu)
c.649_650insTGC (p.Ala216_His217insLeu)
c.361_362insTGC (p.Ala120_His121insLeu)
c.796_797insTGC (p.Ala265_His266insLeu)
8g.71299162T>ACA4779683EYA1c.711A>T (p.Ala237=)
c.609A>T (p.Ala203=)
c.696A>T (p.Ala232=)
c.629A>T (p.His210Leu)
n.1174A>T
c.*478A>T (n.*478A>T)
c.798A>T (p.Ala266=)
c.783A>T (p.Ala261=)
c.780A>T (p.Ala260=)
c.693A>T (p.Ala231=)
c.612A>T (p.Ala204=)
c.708A>T (p.Ala236=)
n.1206A>T
c.345A>T (p.Ala115=)
c.648A>T (p.Ala216=)
c.360A>T (p.Ala120=)
c.795A>T (p.Ala265=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71299162T>CCA461327881EYA1c.711A>G (p.Ala237=)
c.609A>G (p.Ala203=)
c.696A>G (p.Ala232=)
c.629A>G (p.His210Arg)
n.1174A>G
c.*478A>G (n.*478A>G)
c.798A>G (p.Ala266=)
c.783A>G (p.Ala261=)
c.780A>G (p.Ala260=)
c.693A>G (p.Ala231=)
c.612A>G (p.Ala204=)
c.708A>G (p.Ala236=)
n.1206A>G
c.345A>G (p.Ala115=)
c.648A>G (p.Ala216=)
c.360A>G (p.Ala120=)
c.795A>G (p.Ala265=)
8g.71299162T>GCA461327882EYA1c.711A>C (p.Ala237=)
c.609A>C (p.Ala203=)
c.696A>C (p.Ala232=)
c.629A>C (p.His210Pro)
n.1174A>C
c.*478A>C (n.*478A>C)
c.798A>C (p.Ala266=)
c.783A>C (p.Ala261=)
c.780A>C (p.Ala260=)
c.693A>C (p.Ala231=)
c.612A>C (p.Ala204=)
c.708A>C (p.Ala236=)
n.1206A>C
c.345A>C (p.Ala115=)
c.648A>C (p.Ala216=)
c.360A>C (p.Ala120=)
c.795A>C (p.Ala265=)
8g.71299162T=CA1792728357EYA1c.711A= (p.Ala237=)
c.609A= (p.Ala203=)
c.696A= (p.Ala232=)
c.629A= (p.His210=)
n.1174A=
c.*478A= (n.*478A=)
c.798A= (p.Ala266=)
c.783A= (p.Ala261=)
c.780A= (p.Ala260=)
c.693A= (p.Ala231=)
c.612A= (p.Ala204=)
c.708A= (p.Ala236=)
n.1206A=
c.345A= (p.Ala115=)
c.648A= (p.Ala216=)
c.360A= (p.Ala120=)
c.795A= (p.Ala265=)
8g.71299163G>ACA371467316EYA1c.710C>T (p.Ala237Val)
c.608C>T (p.Ala203Val)
c.695C>T (p.Ala232Val)
c.628C>T (p.His210Tyr)
n.1173C>T
c.*477C>T (n.*477C>T)
c.797C>T (p.Ala266Val)
c.782C>T (p.Ala261Val)
c.779C>T (p.Ala260Val)
c.692C>T (p.Ala231Val)
c.611C>T (p.Ala204Val)
c.707C>T (p.Ala236Val)
n.1205C>T
c.344C>T (p.Ala115Val)
c.647C>T (p.Ala216Val)
c.359C>T (p.Ala120Val)
c.794C>T (p.Ala265Val)
8g.71299163G>CCA371467317EYA1c.710C>G (p.Ala237Gly)
c.608C>G (p.Ala203Gly)
c.695C>G (p.Ala232Gly)
c.628C>G (p.His210Asp)
n.1173C>G
c.*477C>G (n.*477C>G)
c.797C>G (p.Ala266Gly)
c.782C>G (p.Ala261Gly)
c.779C>G (p.Ala260Gly)
c.692C>G (p.Ala231Gly)
c.611C>G (p.Ala204Gly)
c.707C>G (p.Ala236Gly)
n.1205C>G
c.344C>G (p.Ala115Gly)
c.647C>G (p.Ala216Gly)
c.359C>G (p.Ala120Gly)
c.794C>G (p.Ala265Gly)
8g.71299163G>TCA371467318EYA1c.710C>A (p.Ala237Glu)
c.608C>A (p.Ala203Glu)
c.695C>A (p.Ala232Glu)
c.628C>A (p.His210Asn)
n.1173C>A
c.*477C>A (n.*477C>A)
c.797C>A (p.Ala266Glu)
c.782C>A (p.Ala261Glu)
c.779C>A (p.Ala260Glu)
c.692C>A (p.Ala231Glu)
c.611C>A (p.Ala204Glu)
c.707C>A (p.Ala236Glu)
n.1205C>A
c.344C>A (p.Ala115Glu)
c.647C>A (p.Ala216Glu)
c.359C>A (p.Ala120Glu)
c.794C>A (p.Ala265Glu)
8g.71299164C>ACA371467319EYA1c.709G>T (p.Ala237Ser)
c.607G>T (p.Ala203Ser)
c.694G>T (p.Ala232Ser)
c.627G>T (p.Gln209His)
n.1172G>T
c.*476G>T (n.*476G>T)
c.796G>T (p.Ala266Ser)
c.781G>T (p.Ala261Ser)
c.778G>T (p.Ala260Ser)
c.691G>T (p.Ala231Ser)
c.610G>T (p.Ala204Ser)
c.706G>T (p.Ala236Ser)
n.1204G>T
c.343G>T (p.Ala115Ser)
c.646G>T (p.Ala216Ser)
c.358G>T (p.Ala120Ser)
c.793G>T (p.Ala265Ser)
 gnomAD v4
8g.71299164C>GCA371467320EYA1c.709G>C (p.Ala237Pro)
c.607G>C (p.Ala203Pro)
c.694G>C (p.Ala232Pro)
c.627G>C (p.Gln209His)
n.1172G>C
c.*476G>C (n.*476G>C)
c.796G>C (p.Ala266Pro)
c.781G>C (p.Ala261Pro)
c.778G>C (p.Ala260Pro)
c.691G>C (p.Ala231Pro)
c.610G>C (p.Ala204Pro)
c.706G>C (p.Ala236Pro)
n.1204G>C
c.343G>C (p.Ala115Pro)
c.646G>C (p.Ala216Pro)
c.358G>C (p.Ala120Pro)
c.793G>C (p.Ala265Pro)
8g.71299164C>TCA371467321EYA1c.709G>A (p.Ala237Thr)
c.607G>A (p.Ala203Thr)
c.694G>A (p.Ala232Thr)
c.627G>A (p.Gln209=)
n.1172G>A
c.*476G>A (n.*476G>A)
c.796G>A (p.Ala266Thr)
c.781G>A (p.Ala261Thr)
c.778G>A (p.Ala260Thr)
c.691G>A (p.Ala231Thr)
c.610G>A (p.Ala204Thr)
c.706G>A (p.Ala236Thr)
n.1204G>A
c.343G>A (p.Ala115Thr)
c.646G>A (p.Ala216Thr)
c.358G>A (p.Ala120Thr)
c.793G>A (p.Ala265Thr)
8g.71299165T>ACA461327885EYA1c.708A>T (p.Pro236=)
c.606A>T (p.Pro202=)
c.693A>T (p.Pro231=)
c.626A>T (p.Gln209Leu)
n.1171A>T
c.*475A>T (n.*475A>T)
c.795A>T (p.Pro265=)
c.780A>T (p.Pro260=)
c.777A>T (p.Pro259=)
c.690A>T (p.Pro230=)
c.609A>T (p.Pro203=)
c.705A>T (p.Pro235=)
n.1203A>T
c.342A>T (p.Pro114=)
c.645A>T (p.Pro215=)
c.357A>T (p.Pro119=)
c.792A>T (p.Pro264=)
8g.71299165T>CCA461327884EYA1c.708A>G (p.Pro236=)
c.606A>G (p.Pro202=)
c.693A>G (p.Pro231=)
c.626A>G (p.Gln209Arg)
n.1171A>G
c.*475A>G (n.*475A>G)
c.795A>G (p.Pro265=)
c.780A>G (p.Pro260=)
c.777A>G (p.Pro259=)
c.690A>G (p.Pro230=)
c.609A>G (p.Pro203=)
c.705A>G (p.Pro235=)
n.1203A>G
c.342A>G (p.Pro114=)
c.645A>G (p.Pro215=)
c.357A>G (p.Pro119=)
c.792A>G (p.Pro264=)
8g.71299165T>GCA461327883EYA1c.708A>C (p.Pro236=)
c.606A>C (p.Pro202=)
c.693A>C (p.Pro231=)
c.626A>C (p.Gln209Pro)
n.1171A>C
c.*475A>C (n.*475A>C)
c.795A>C (p.Pro265=)
c.780A>C (p.Pro260=)
c.777A>C (p.Pro259=)
c.690A>C (p.Pro230=)
c.609A>C (p.Pro203=)
c.705A>C (p.Pro235=)
n.1203A>C
c.342A>C (p.Pro114=)
c.645A>C (p.Pro215=)
c.357A>C (p.Pro119=)
c.792A>C (p.Pro264=)
8g.71299166G>ACA371467322EYA1c.707C>T (p.Pro236Leu)
c.605C>T (p.Pro202Leu)
c.692C>T (p.Pro231Leu)
c.625C>T (p.Gln209Ter)
n.1170C>T
c.*474C>T (n.*474C>T)
c.794C>T (p.Pro265Leu)
c.779C>T (p.Pro260Leu)
c.776C>T (p.Pro259Leu)
c.689C>T (p.Pro230Leu)
c.608C>T (p.Pro203Leu)
c.704C>T (p.Pro235Leu)
n.1202C>T
c.341C>T (p.Pro114Leu)
c.644C>T (p.Pro215Leu)
c.356C>T (p.Pro119Leu)
c.791C>T (p.Pro264Leu)
8g.71299166G>CCA371467323EYA1c.707C>G (p.Pro236Arg)
c.605C>G (p.Pro202Arg)
c.692C>G (p.Pro231Arg)
c.625C>G (p.Gln209Glu)
n.1170C>G
c.*474C>G (n.*474C>G)
c.794C>G (p.Pro265Arg)
c.779C>G (p.Pro260Arg)
c.776C>G (p.Pro259Arg)
c.689C>G (p.Pro230Arg)
c.608C>G (p.Pro203Arg)
c.704C>G (p.Pro235Arg)
n.1202C>G
c.341C>G (p.Pro114Arg)
c.644C>G (p.Pro215Arg)
c.356C>G (p.Pro119Arg)
c.791C>G (p.Pro264Arg)
8g.71299166G>TCA371467324EYA1c.707C>A (p.Pro236Gln)
c.605C>A (p.Pro202Gln)
c.692C>A (p.Pro231Gln)
c.625C>A (p.Gln209Lys)
n.1170C>A
c.*474C>A (n.*474C>A)
c.794C>A (p.Pro265Gln)
c.779C>A (p.Pro260Gln)
c.776C>A (p.Pro259Gln)
c.689C>A (p.Pro230Gln)
c.608C>A (p.Pro203Gln)
c.704C>A (p.Pro235Gln)
n.1202C>A
c.341C>A (p.Pro114Gln)
c.644C>A (p.Pro215Gln)
c.356C>A (p.Pro119Gln)
c.791C>A (p.Pro264Gln)
 gnomAD v4
8g.71299167G>ACA371467325EYA1c.706C>T (p.Pro236Ser)
c.604C>T (p.Pro202Ser)
c.691C>T (p.Pro231Ser)
c.624C>T (p.Ile208=)
n.1169C>T
c.*473C>T (n.*473C>T)
c.793C>T (p.Pro265Ser)
c.778C>T (p.Pro260Ser)
c.775C>T (p.Pro259Ser)
c.688C>T (p.Pro230Ser)
c.607C>T (p.Pro203Ser)
c.703C>T (p.Pro235Ser)
n.1201C>T
c.340C>T (p.Pro114Ser)
c.643C>T (p.Pro215Ser)
c.355C>T (p.Pro119Ser)
c.790C>T (p.Pro264Ser)
 gnomAD v4
8g.71299167G>CCA371467327EYA1c.706C>G (p.Pro236Ala)
c.604C>G (p.Pro202Ala)
c.691C>G (p.Pro231Ala)
c.624C>G (p.Ile208Met)
n.1169C>G
c.*473C>G (n.*473C>G)
c.793C>G (p.Pro265Ala)
c.778C>G (p.Pro260Ala)
c.775C>G (p.Pro259Ala)
c.688C>G (p.Pro230Ala)
c.607C>G (p.Pro203Ala)
c.703C>G (p.Pro235Ala)
n.1201C>G
c.340C>G (p.Pro114Ala)
c.643C>G (p.Pro215Ala)
c.355C>G (p.Pro119Ala)
c.790C>G (p.Pro264Ala)
8g.71299167G>TCA371467326EYA1c.706C>A (p.Pro236Thr)
c.604C>A (p.Pro202Thr)
c.691C>A (p.Pro231Thr)
c.624C>A (p.Ile208=)
n.1169C>A
c.*473C>A (n.*473C>A)
c.793C>A (p.Pro265Thr)
c.778C>A (p.Pro260Thr)
c.775C>A (p.Pro259Thr)
c.688C>A (p.Pro230Thr)
c.607C>A (p.Pro203Thr)
c.703C>A (p.Pro235Thr)
n.1201C>A
c.340C>A (p.Pro114Thr)
c.643C>A (p.Pro215Thr)
c.355C>A (p.Pro119Thr)
c.790C>A (p.Pro264Thr)
 ClinVar
8g.71299168A>CCA371467328EYA1c.705T>G (p.Tyr235Ter)
c.603T>G (p.Tyr201Ter)
c.690T>G (p.Tyr230Ter)
c.623T>G (p.Ile208Ser)
n.1168T>G
c.*472T>G (n.*472T>G)
c.792T>G (p.Tyr264Ter)
c.777T>G (p.Tyr259Ter)
c.774T>G (p.Tyr258Ter)
c.687T>G (p.Tyr229Ter)
c.606T>G (p.Tyr202Ter)
c.702T>G (p.Tyr234Ter)
n.1200T>G
c.339T>G (p.Tyr113Ter)
c.642T>G (p.Tyr214Ter)
c.354T>G (p.Tyr118Ter)
c.789T>G (p.Tyr263Ter)
8g.71299168A>GCA461327886EYA1c.705T>C (p.Tyr235=)
c.603T>C (p.Tyr201=)
c.690T>C (p.Tyr230=)
c.623T>C (p.Ile208Thr)
n.1168T>C
c.*472T>C (n.*472T>C)
c.792T>C (p.Tyr264=)
c.777T>C (p.Tyr259=)
c.774T>C (p.Tyr258=)
c.687T>C (p.Tyr229=)
c.606T>C (p.Tyr202=)
c.702T>C (p.Tyr234=)
n.1200T>C
c.339T>C (p.Tyr113=)
c.642T>C (p.Tyr214=)
c.354T>C (p.Tyr118=)
c.789T>C (p.Tyr263=)
8g.71299168A>TCA371467329EYA1c.705T>A (p.Tyr235Ter)
c.603T>A (p.Tyr201Ter)
c.690T>A (p.Tyr230Ter)
c.623T>A (p.Ile208Asn)
n.1168T>A
c.*472T>A (n.*472T>A)
c.792T>A (p.Tyr264Ter)
c.777T>A (p.Tyr259Ter)
c.774T>A (p.Tyr258Ter)
c.687T>A (p.Tyr229Ter)
c.606T>A (p.Tyr202Ter)
c.702T>A (p.Tyr234Ter)
n.1200T>A
c.339T>A (p.Tyr113Ter)
c.642T>A (p.Tyr214Ter)
c.354T>A (p.Tyr118Ter)
c.789T>A (p.Tyr263Ter)
8g.71299169T>ACA179208619EYA1c.704A>T (p.Tyr235Phe)
c.602A>T (p.Tyr201Phe)
c.689A>T (p.Tyr230Phe)
c.622A>T (p.Ile208Phe)
n.1167A>T
c.*471A>T (n.*471A>T)
c.791A>T (p.Tyr264Phe)
c.776A>T (p.Tyr259Phe)
c.773A>T (p.Tyr258Phe)
c.686A>T (p.Tyr229Phe)
c.605A>T (p.Tyr202Phe)
c.701A>T (p.Tyr234Phe)
n.1199A>T
c.338A>T (p.Tyr113Phe)
c.641A>T (p.Tyr214Phe)
c.353A>T (p.Tyr118Phe)
c.788A>T (p.Tyr263Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.71299169T>CCA371467330EYA1c.704A>G (p.Tyr235Cys)
c.602A>G (p.Tyr201Cys)
c.689A>G (p.Tyr230Cys)
c.622A>G (p.Ile208Val)
n.1167A>G
c.*471A>G (n.*471A>G)
c.791A>G (p.Tyr264Cys)
c.776A>G (p.Tyr259Cys)
c.773A>G (p.Tyr258Cys)
c.686A>G (p.Tyr229Cys)
c.605A>G (p.Tyr202Cys)
c.701A>G (p.Tyr234Cys)
n.1199A>G
c.338A>G (p.Tyr113Cys)
c.641A>G (p.Tyr214Cys)
c.353A>G (p.Tyr118Cys)
c.788A>G (p.Tyr263Cys)
8g.71299169T>GCA371467331EYA1c.704A>C (p.Tyr235Ser)
c.602A>C (p.Tyr201Ser)
c.689A>C (p.Tyr230Ser)
c.622A>C (p.Ile208Leu)
n.1167A>C
c.*471A>C (n.*471A>C)
c.791A>C (p.Tyr264Ser)
c.776A>C (p.Tyr259Ser)
c.773A>C (p.Tyr258Ser)
c.686A>C (p.Tyr229Ser)
c.605A>C (p.Tyr202Ser)
c.701A>C (p.Tyr234Ser)
n.1199A>C
c.338A>C (p.Tyr113Ser)
c.641A>C (p.Tyr214Ser)
c.353A>C (p.Tyr118Ser)
c.788A>C (p.Tyr263Ser)
8g.71299169T=CA1792728358EYA1c.704A= (p.Tyr235=)
c.602A= (p.Tyr201=)
c.689A= (p.Tyr230=)
c.622A= (p.Ile208=)
n.1167A=
c.*471A= (n.*471A=)
c.791A= (p.Tyr264=)
c.776A= (p.Tyr259=)
c.773A= (p.Tyr258=)
c.686A= (p.Tyr229=)
c.605A= (p.Tyr202=)
c.701A= (p.Tyr234=)
n.1199A=
c.338A= (p.Tyr113=)
c.641A= (p.Tyr214=)
c.353A= (p.Tyr118=)
c.788A= (p.Tyr263=)
8g.71299170A>CCA371467332EYA1c.703T>G (p.Tyr235Asp)
c.601T>G (p.Tyr201Asp)
c.688T>G (p.Tyr230Asp)
c.621T>G (p.Arg207=)
n.1166T>G
c.*470T>G (n.*470T>G)
c.790T>G (p.Tyr264Asp)
c.775T>G (p.Tyr259Asp)
c.772T>G (p.Tyr258Asp)
c.685T>G (p.Tyr229Asp)
c.604T>G (p.Tyr202Asp)
c.700T>G (p.Tyr234Asp)
n.1198T>G
c.337T>G (p.Tyr113Asp)
c.640T>G (p.Tyr214Asp)
c.352T>G (p.Tyr118Asp)
c.787T>G (p.Tyr263Asp)
8g.71299170A>GCA371467333EYA1c.703T>C (p.Tyr235His)
c.601T>C (p.Tyr201His)
c.688T>C (p.Tyr230His)
c.621T>C (p.Arg207=)
n.1166T>C
c.*470T>C (n.*470T>C)
c.790T>C (p.Tyr264His)
c.775T>C (p.Tyr259His)
c.772T>C (p.Tyr258His)
c.685T>C (p.Tyr229His)
c.604T>C (p.Tyr202His)
c.700T>C (p.Tyr234His)
n.1198T>C
c.337T>C (p.Tyr113His)
c.640T>C (p.Tyr214His)
c.352T>C (p.Tyr118His)
c.787T>C (p.Tyr263His)
8g.71299170A>TCA371467334EYA1c.703T>A (p.Tyr235Asn)
c.601T>A (p.Tyr201Asn)
c.688T>A (p.Tyr230Asn)
c.621T>A (p.Arg207=)
n.1166T>A
c.*470T>A (n.*470T>A)
c.790T>A (p.Tyr264Asn)
c.775T>A (p.Tyr259Asn)
c.772T>A (p.Tyr258Asn)
c.685T>A (p.Tyr229Asn)
c.604T>A (p.Tyr202Asn)
c.700T>A (p.Tyr234Asn)
n.1198T>A
c.337T>A (p.Tyr113Asn)
c.640T>A (p.Tyr214Asn)
c.352T>A (p.Tyr118Asn)
c.787T>A (p.Tyr263Asn)
8g.71299171C>ACA461327887EYA1c.702G>T (p.Pro234=)
c.600G>T (p.Pro200=)
c.687G>T (p.Pro229=)
c.620G>T (p.Arg207Leu)
n.1165G>T
c.*469G>T (n.*469G>T)
c.789G>T (p.Pro263=)
c.774G>T (p.Pro258=)
c.771G>T (p.Pro257=)
c.684G>T (p.Pro228=)
c.603G>T (p.Pro201=)
c.699G>T (p.Pro233=)
n.1197G>T
c.336G>T (p.Pro112=)
c.639G>T (p.Pro213=)
c.351G>T (p.Pro117=)
c.786G>T (p.Pro262=)
8g.71299171C=CA1792728359EYA1c.702G= (p.Pro234=)
c.600G= (p.Pro200=)
c.687G= (p.Pro229=)
c.620G= (p.Arg207=)
n.1165G=
c.*469G= (n.*469G=)
c.789G= (p.Pro263=)
c.774G= (p.Pro258=)
c.771G= (p.Pro257=)
c.684G= (p.Pro228=)
c.603G= (p.Pro201=)
c.699G= (p.Pro233=)
n.1197G=
c.336G= (p.Pro112=)
c.639G= (p.Pro213=)
c.351G= (p.Pro117=)
c.786G= (p.Pro262=)
8g.71299171C>GCA461327888EYA1c.702G>C (p.Pro234=)
c.600G>C (p.Pro200=)
c.687G>C (p.Pro229=)
c.620G>C (p.Arg207Pro)
n.1165G>C
c.*469G>C (n.*469G>C)
c.789G>C (p.Pro263=)
c.774G>C (p.Pro258=)
c.771G>C (p.Pro257=)
c.684G>C (p.Pro228=)
c.603G>C (p.Pro201=)
c.699G>C (p.Pro233=)
n.1197G>C
c.336G>C (p.Pro112=)
c.639G>C (p.Pro213=)
c.351G>C (p.Pro117=)
c.786G>C (p.Pro262=)
8g.71299171C>TCA4779684EYA1c.702G>A (p.Pro234=)
c.600G>A (p.Pro200=)
c.687G>A (p.Pro229=)
c.620G>A (p.Arg207His)
n.1165G>A
c.*469G>A (n.*469G>A)
c.789G>A (p.Pro263=)
c.774G>A (p.Pro258=)
c.771G>A (p.Pro257=)
c.684G>A (p.Pro228=)
c.603G>A (p.Pro201=)
c.699G>A (p.Pro233=)
n.1197G>A
c.336G>A (p.Pro112=)
c.639G>A (p.Pro213=)
c.351G>A (p.Pro117=)
c.786G>A (p.Pro262=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299172G>ACA4779685EYA1c.701C>T (p.Pro234Leu)
c.599C>T (p.Pro200Leu)
c.686C>T (p.Pro229Leu)
c.619C>T (p.Arg207Cys)
n.1164C>T
c.*468C>T (n.*468C>T)
c.788C>T (p.Pro263Leu)
c.773C>T (p.Pro258Leu)
c.770C>T (p.Pro257Leu)
c.683C>T (p.Pro228Leu)
c.602C>T (p.Pro201Leu)
c.698C>T (p.Pro233Leu)
n.1196C>T
c.335C>T (p.Pro112Leu)
c.638C>T (p.Pro213Leu)
c.350C>T (p.Pro117Leu)
c.785C>T (p.Pro262Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.71299172G>CCA371467335EYA1c.701C>G (p.Pro234Arg)
c.599C>G (p.Pro200Arg)
c.686C>G (p.Pro229Arg)
c.619C>G (p.Arg207Gly)
n.1164C>G
c.*468C>G (n.*468C>G)
c.788C>G (p.Pro263Arg)
c.773C>G (p.Pro258Arg)
c.770C>G (p.Pro257Arg)
c.683C>G (p.Pro228Arg)
c.602C>G (p.Pro201Arg)
c.698C>G (p.Pro233Arg)
n.1196C>G
c.335C>G (p.Pro112Arg)
c.638C>G (p.Pro213Arg)
c.350C>G (p.Pro117Arg)
c.785C>G (p.Pro262Arg)
 dbSNP
8g.71299172G=CA1792728360EYA1c.701C= (p.Pro234=)
c.599C= (p.Pro200=)
c.686C= (p.Pro229=)
c.619C= (p.Arg207=)
n.1164C=
c.*468C= (n.*468C=)
c.788C= (p.Pro263=)
c.773C= (p.Pro258=)
c.770C= (p.Pro257=)
c.683C= (p.Pro228=)
c.602C= (p.Pro201=)
c.698C= (p.Pro233=)
n.1196C=
c.335C= (p.Pro112=)
c.638C= (p.Pro213=)
c.350C= (p.Pro117=)
c.785C= (p.Pro262=)
8g.71299172G>TCA371467336EYA1c.701C>A (p.Pro234Gln)
c.599C>A (p.Pro200Gln)
c.686C>A (p.Pro229Gln)
c.619C>A (p.Arg207Ser)
n.1164C>A
c.*468C>A (n.*468C>A)
c.788C>A (p.Pro263Gln)
c.773C>A (p.Pro258Gln)
c.770C>A (p.Pro257Gln)
c.683C>A (p.Pro228Gln)
c.602C>A (p.Pro201Gln)
c.698C>A (p.Pro233Gln)
n.1196C>A
c.335C>A (p.Pro112Gln)
c.638C>A (p.Pro213Gln)
c.350C>A (p.Pro117Gln)
c.785C>A (p.Pro262Gln)
8g.71299173G>ACA371467337EYA1c.700C>T (p.Pro234Ser)
c.598C>T (p.Pro200Ser)
c.685C>T (p.Pro229Ser)
c.618C>T (p.His206=)
n.1163C>T
c.*467C>T (n.*467C>T)
c.787C>T (p.Pro263Ser)
c.772C>T (p.Pro258Ser)
c.769C>T (p.Pro257Ser)
c.682C>T (p.Pro228Ser)
c.601C>T (p.Pro201Ser)
c.697C>T (p.Pro233Ser)
n.1195C>T
c.334C>T (p.Pro112Ser)
c.637C>T (p.Pro213Ser)
c.349C>T (p.Pro117Ser)
c.784C>T (p.Pro262Ser)
8g.71299173G>CCA371467338EYA1c.700C>G (p.Pro234Ala)
c.598C>G (p.Pro200Ala)
c.685C>G (p.Pro229Ala)
c.618C>G (p.His206Gln)
n.1163C>G
c.*467C>G (n.*467C>G)
c.787C>G (p.Pro263Ala)
c.772C>G (p.Pro258Ala)
c.769C>G (p.Pro257Ala)
c.682C>G (p.Pro228Ala)
c.601C>G (p.Pro201Ala)
c.697C>G (p.Pro233Ala)
n.1195C>G
c.334C>G (p.Pro112Ala)
c.637C>G (p.Pro213Ala)
c.349C>G (p.Pro117Ala)
c.784C>G (p.Pro262Ala)
8g.71299173G>TCA371467339EYA1c.700C>A (p.Pro234Thr)
c.598C>A (p.Pro200Thr)
c.685C>A (p.Pro229Thr)
c.618C>A (p.His206Gln)
n.1163C>A
c.*467C>A (n.*467C>A)
c.787C>A (p.Pro263Thr)
c.772C>A (p.Pro258Thr)
c.769C>A (p.Pro257Thr)
c.682C>A (p.Pro228Thr)
c.601C>A (p.Pro201Thr)
c.697C>A (p.Pro233Thr)
n.1195C>A
c.334C>A (p.Pro112Thr)
c.637C>A (p.Pro213Thr)
c.349C>A (p.Pro117Thr)
c.784C>A (p.Pro262Thr)
 gnomAD v4
8g.71299174T>ACA461327889EYA1c.699A>T (p.Ser233=)
c.597A>T (p.Ser199=)
c.684A>T (p.Ser228=)
c.617A>T (p.His206Leu)
n.1162A>T
c.*466A>T (n.*466A>T)
c.786A>T (p.Ser262=)
c.771A>T (p.Ser257=)
c.768A>T (p.Ser256=)
c.681A>T (p.Ser227=)
c.600A>T (p.Ser200=)
c.696A>T (p.Ser232=)
n.1194A>T
c.333A>T (p.Ser111=)
c.636A>T (p.Ser212=)
c.348A>T (p.Ser116=)
c.783A>T (p.Ser261=)
8g.71299174T>CCA461327890EYA1c.699A>G (p.Ser233=)
c.597A>G (p.Ser199=)
c.684A>G (p.Ser228=)
c.617A>G (p.His206Arg)
n.1162A>G
c.*466A>G (n.*466A>G)
c.786A>G (p.Ser262=)
c.771A>G (p.Ser257=)
c.768A>G (p.Ser256=)
c.681A>G (p.Ser227=)
c.600A>G (p.Ser200=)
c.696A>G (p.Ser232=)
n.1194A>G
c.333A>G (p.Ser111=)
c.636A>G (p.Ser212=)
c.348A>G (p.Ser116=)
c.783A>G (p.Ser261=)
8g.71299174T>GCA461327891EYA1c.699A>C (p.Ser233=)
c.597A>C (p.Ser199=)
c.684A>C (p.Ser228=)
c.617A>C (p.His206Pro)
n.1162A>C
c.*466A>C (n.*466A>C)
c.786A>C (p.Ser262=)
c.771A>C (p.Ser257=)
c.768A>C (p.Ser256=)
c.681A>C (p.Ser227=)
c.600A>C (p.Ser200=)
c.696A>C (p.Ser232=)
n.1194A>C
c.333A>C (p.Ser111=)
c.636A>C (p.Ser212=)
c.348A>C (p.Ser116=)
c.783A>C (p.Ser261=)
 dbSNP gnomAD v4
8g.71299174T=CA1792728362EYA1c.699A= (p.Ser233=)
c.597A= (p.Ser199=)
c.684A= (p.Ser228=)
c.617A= (p.His206=)
n.1162A=
c.*466A= (n.*466A=)
c.786A= (p.Ser262=)
c.771A= (p.Ser257=)
c.768A= (p.Ser256=)
c.681A= (p.Ser227=)
c.600A= (p.Ser200=)
c.696A= (p.Ser232=)
n.1194A=
c.333A= (p.Ser111=)
c.636A= (p.Ser212=)
c.348A= (p.Ser116=)
c.783A= (p.Ser261=)
8g.71299174_71299248delinsTGAGCTGTTATAATACTGTGCGTACTGACCCTGGCCAAAACTGGGATAAGACGGATAGTCCTACCAAATCAAACCCA1792728361EYA1c.640-15_699delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.538-15_597delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.625-15_684delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.558-15_617delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
n.1103-15_1162delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.*407-15_*466delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.727-15_786delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.712-15_771delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.709-15_768delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.622-15_681delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.541-15_600delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.637-15_696delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
n.1135-15_1194delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.274-15_333delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.577-15_636delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.289-15_348delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
c.724-15_783delinsGGTTTGATTTGGTAGGACTATCCGTCTTATCCCAGTTTTGGCCAGGGTCAGTACGCACAGTATTATAACAGCTCA
8g.71299175G>ACA371467340EYA1c.698C>T (p.Ser233Leu)
c.596C>T (p.Ser199Leu)
c.683C>T (p.Ser228Leu)
c.616C>T (p.His206Tyr)
n.1161C>T
c.*465C>T (n.*465C>T)
c.785C>T (p.Ser262Leu)
c.770C>T (p.Ser257Leu)
c.767C>T (p.Ser256Leu)
c.680C>T (p.Ser227Leu)
c.599C>T (p.Ser200Leu)
c.695C>T (p.Ser232Leu)
n.1193C>T
c.332C>T (p.Ser111Leu)
c.635C>T (p.Ser212Leu)
c.347C>T (p.Ser116Leu)
c.782C>T (p.Ser261Leu)
 dbSNP
8g.71299175G>CCA371467342EYA1c.698C>G (p.Ser233Ter)
c.596C>G (p.Ser199Ter)
c.683C>G (p.Ser228Ter)
c.616C>G (p.His206Asp)
n.1161C>G
c.*465C>G (n.*465C>G)
c.785C>G (p.Ser262Ter)
c.770C>G (p.Ser257Ter)
c.767C>G (p.Ser256Ter)
c.680C>G (p.Ser227Ter)
c.599C>G (p.Ser200Ter)
c.695C>G (p.Ser232Ter)
n.1193C>G
c.332C>G (p.Ser111Ter)
c.635C>G (p.Ser212Ter)
c.347C>G (p.Ser116Ter)
c.782C>G (p.Ser261Ter)
8g.71299175G=CA1792728363EYA1c.698C= (p.Ser233=)
c.596C= (p.Ser199=)
c.683C= (p.Ser228=)
c.616C= (p.His206=)
n.1161C=
c.*465C= (n.*465C=)
c.785C= (p.Ser262=)
c.770C= (p.Ser257=)
c.767C= (p.Ser256=)
c.680C= (p.Ser227=)
c.599C= (p.Ser200=)
c.695C= (p.Ser232=)
n.1193C=
c.332C= (p.Ser111=)
c.635C= (p.Ser212=)
c.347C= (p.Ser116=)
c.782C= (p.Ser261=)
8g.71299175G>TCA371467341EYA1c.698C>A (p.Ser233Ter)
c.596C>A (p.Ser199Ter)
c.683C>A (p.Ser228Ter)
c.616C>A (p.His206Asn)
n.1161C>A
c.*465C>A (n.*465C>A)
c.785C>A (p.Ser262Ter)
c.770C>A (p.Ser257Ter)
c.767C>A (p.Ser256Ter)
c.680C>A (p.Ser227Ter)
c.599C>A (p.Ser200Ter)
c.695C>A (p.Ser232Ter)
n.1193C>A
c.332C>A (p.Ser111Ter)
c.635C>A (p.Ser212Ter)
c.347C>A (p.Ser116Ter)
c.782C>A (p.Ser261Ter)
8g.71299175_71299248delCA658656017EYA1c.640-15_698del
c.538-15_596del
c.625-15_683del
c.558-15_616del
n.1103-15_1161del
c.*407-15_*465del
c.727-15_785del
c.712-15_770del
c.709-15_767del
c.622-15_680del
c.541-15_599del
c.637-15_695del
n.1135-15_1193del
c.274-15_332del
c.577-15_635del
c.289-15_347del
c.724-15_782del
 ClinVar dbSNP
8g.71299176A>CCA371467343EYA1c.697T>G (p.Ser233Ala)
c.595T>G (p.Ser199Ala)
c.682T>G (p.Ser228Ala)
c.615T>G (p.Ala205=)
n.1160T>G
c.*464T>G (n.*464T>G)
c.784T>G (p.Ser262Ala)
c.769T>G (p.Ser257Ala)
c.766T>G (p.Ser256Ala)
c.679T>G (p.Ser227Ala)
c.598T>G (p.Ser200Ala)
c.694T>G (p.Ser232Ala)
n.1192T>G
c.331T>G (p.Ser111Ala)
c.634T>G (p.Ser212Ala)
c.346T>G (p.Ser116Ala)
c.781T>G (p.Ser261Ala)
8g.71299176A>GCA371467344EYA1c.697T>C (p.Ser233Pro)
c.595T>C (p.Ser199Pro)
c.682T>C (p.Ser228Pro)
c.615T>C (p.Ala205=)
n.1160T>C
c.*464T>C (n.*464T>C)
c.784T>C (p.Ser262Pro)
c.769T>C (p.Ser257Pro)
c.766T>C (p.Ser256Pro)
c.679T>C (p.Ser227Pro)
c.598T>C (p.Ser200Pro)
c.694T>C (p.Ser232Pro)
n.1192T>C
c.331T>C (p.Ser111Pro)
c.634T>C (p.Ser212Pro)
c.346T>C (p.Ser116Pro)
c.781T>C (p.Ser261Pro)
8g.71299176A>TCA371467345EYA1c.697T>A (p.Ser233Thr)
c.595T>A (p.Ser199Thr)
c.682T>A (p.Ser228Thr)
c.615T>A (p.Ala205=)
n.1160T>A
c.*464T>A (n.*464T>A)
c.784T>A (p.Ser262Thr)
c.769T>A (p.Ser257Thr)
c.766T>A (p.Ser256Thr)
c.679T>A (p.Ser227Thr)
c.598T>A (p.Ser200Thr)
c.694T>A (p.Ser232Thr)
n.1192T>A
c.331T>A (p.Ser111Thr)
c.634T>A (p.Ser212Thr)
c.346T>A (p.Ser116Thr)
c.781T>A (p.Ser261Thr)
8g.71299177G>ACA461327892EYA1c.696C>T (p.Ser232=)
c.594C>T (p.Ser198=)
c.681C>T (p.Ser227=)
c.614C>T (p.Ala205Val)
n.1159C>T
c.*463C>T (n.*463C>T)
c.783C>T (p.Ser261=)
c.768C>T (p.Ser256=)
c.765C>T (p.Ser255=)
c.678C>T (p.Ser226=)
c.597C>T (p.Ser199=)
c.693C>T (p.Ser231=)
n.1191C>T
c.330C>T (p.Ser110=)
c.633C>T (p.Ser211=)
c.345C>T (p.Ser115=)
c.780C>T (p.Ser260=)
8g.71299177G>CCA371467346EYA1c.696C>G (p.Ser232Arg)
c.594C>G (p.Ser198Arg)
c.681C>G (p.Ser227Arg)
c.614C>G (p.Ala205Gly)
n.1159C>G
c.*463C>G (n.*463C>G)
c.783C>G (p.Ser261Arg)
c.768C>G (p.Ser256Arg)
c.765C>G (p.Ser255Arg)
c.678C>G (p.Ser226Arg)
c.597C>G (p.Ser199Arg)
c.693C>G (p.Ser231Arg)
n.1191C>G
c.330C>G (p.Ser110Arg)
c.633C>G (p.Ser211Arg)
c.345C>G (p.Ser115Arg)
c.780C>G (p.Ser260Arg)
8g.71299177G>TCA371467347EYA1c.696C>A (p.Ser232Arg)
c.594C>A (p.Ser198Arg)
c.681C>A (p.Ser227Arg)
c.614C>A (p.Ala205Asp)
n.1159C>A
c.*463C>A (n.*463C>A)
c.783C>A (p.Ser261Arg)
c.768C>A (p.Ser256Arg)
c.765C>A (p.Ser255Arg)
c.678C>A (p.Ser226Arg)
c.597C>A (p.Ser199Arg)
c.693C>A (p.Ser231Arg)
n.1191C>A
c.330C>A (p.Ser110Arg)
c.633C>A (p.Ser211Arg)
c.345C>A (p.Ser115Arg)
c.780C>A (p.Ser260Arg)
8g.71299178C>ACA371467348EYA1c.695G>T (p.Ser232Ile)
c.593G>T (p.Ser198Ile)
c.680G>T (p.Ser227Ile)
c.613G>T (p.Ala205Ser)
n.1158G>T
c.*462G>T (n.*462G>T)
c.782G>T (p.Ser261Ile)
c.767G>T (p.Ser256Ile)
c.764G>T (p.Ser255Ile)
c.677G>T (p.Ser226Ile)
c.596G>T (p.Ser199Ile)
c.692G>T (p.Ser231Ile)
n.1190G>T
c.329G>T (p.Ser110Ile)
c.632G>T (p.Ser211Ile)
c.344G>T (p.Ser115Ile)
c.779G>T (p.Ser260Ile)
8g.71299178C=CA1792728364EYA1c.695G= (p.Ser232=)
c.593G= (p.Ser198=)
c.680G= (p.Ser227=)
c.613G= (p.Ala205=)
n.1158G=
c.*462G= (n.*462G=)
c.782G= (p.Ser261=)
c.767G= (p.Ser256=)
c.764G= (p.Ser255=)
c.677G= (p.Ser226=)
c.596G= (p.Ser199=)
c.692G= (p.Ser231=)
n.1190G=
c.329G= (p.Ser110=)
c.632G= (p.Ser211=)
c.344G= (p.Ser115=)
c.779G= (p.Ser260=)
8g.71299178C>GCA371467349EYA1c.695G>C (p.Ser232Thr)
c.593G>C (p.Ser198Thr)
c.680G>C (p.Ser227Thr)
c.613G>C (p.Ala205Pro)
n.1158G>C
c.*462G>C (n.*462G>C)
c.782G>C (p.Ser261Thr)
c.767G>C (p.Ser256Thr)
c.764G>C (p.Ser255Thr)
c.677G>C (p.Ser226Thr)
c.596G>C (p.Ser199Thr)
c.692G>C (p.Ser231Thr)
n.1190G>C
c.329G>C (p.Ser110Thr)
c.632G>C (p.Ser211Thr)
c.344G>C (p.Ser115Thr)
c.779G>C (p.Ser260Thr)
8g.71299178C>TCA371467350EYA1c.695G>A (p.Ser232Asn)
c.593G>A (p.Ser198Asn)
c.680G>A (p.Ser227Asn)
c.613G>A (p.Ala205Thr)
n.1158G>A
c.*462G>A (n.*462G>A)
c.782G>A (p.Ser261Asn)
c.767G>A (p.Ser256Asn)
c.764G>A (p.Ser255Asn)
c.677G>A (p.Ser226Asn)
c.596G>A (p.Ser199Asn)
c.692G>A (p.Ser231Asn)
n.1190G>A
c.329G>A (p.Ser110Asn)
c.632G>A (p.Ser211Asn)
c.344G>A (p.Ser115Asn)
c.779G>A (p.Ser260Asn)
 dbSNP
8g.71299179T>ACA371467351EYA1c.694A>T (p.Ser232Cys)
c.592A>T (p.Ser198Cys)
c.679A>T (p.Ser227Cys)
c.612A>T (p.Thr204=)
n.1157A>T
c.*461A>T (n.*461A>T)
c.781A>T (p.Ser261Cys)
c.766A>T (p.Ser256Cys)
c.763A>T (p.Ser255Cys)
c.676A>T (p.Ser226Cys)
c.595A>T (p.Ser199Cys)
c.691A>T (p.Ser231Cys)
n.1189A>T
c.328A>T (p.Ser110Cys)
c.631A>T (p.Ser211Cys)
c.343A>T (p.Ser115Cys)
c.778A>T (p.Ser260Cys)
8g.71299179T>CCA371467352EYA1c.694A>G (p.Ser232Gly)
c.592A>G (p.Ser198Gly)
c.679A>G (p.Ser227Gly)
c.612A>G (p.Thr204=)
n.1157A>G
c.*461A>G (n.*461A>G)
c.781A>G (p.Ser261Gly)
c.766A>G (p.Ser256Gly)
c.763A>G (p.Ser255Gly)
c.676A>G (p.Ser226Gly)
c.595A>G (p.Ser199Gly)
c.691A>G (p.Ser231Gly)
n.1189A>G
c.328A>G (p.Ser110Gly)
c.631A>G (p.Ser211Gly)
c.343A>G (p.Ser115Gly)
c.778A>G (p.Ser260Gly)
8g.71299179T>GCA371467353EYA1c.694A>C (p.Ser232Arg)
c.592A>C (p.Ser198Arg)
c.679A>C (p.Ser227Arg)
c.612A>C (p.Thr204=)
n.1157A>C
c.*461A>C (n.*461A>C)
c.781A>C (p.Ser261Arg)
c.766A>C (p.Ser256Arg)
c.763A>C (p.Ser255Arg)
c.676A>C (p.Ser226Arg)
c.595A>C (p.Ser199Arg)
c.691A>C (p.Ser231Arg)
n.1189A>C
c.328A>C (p.Ser110Arg)
c.631A>C (p.Ser211Arg)
c.343A>C (p.Ser115Arg)
c.778A>C (p.Ser260Arg)
8g.71299180G>ACA461327893EYA1c.693C>T (p.Asn231=)
c.591C>T (p.Asn197=)
c.678C>T (p.Asn226=)
c.611C>T (p.Thr204Ile)
n.1156C>T
c.*460C>T (n.*460C>T)
c.780C>T (p.Asn260=)
c.765C>T (p.Asn255=)
c.762C>T (p.Asn254=)
c.675C>T (p.Asn225=)
c.594C>T (p.Asn198=)
c.690C>T (p.Asn230=)
n.1188C>T
c.327C>T (p.Asn109=)
c.630C>T (p.Asn210=)
c.342C>T (p.Asn114=)
c.777C>T (p.Asn259=)
8g.71299180G>CCA371467354EYA1c.693C>G (p.Asn231Lys)
c.591C>G (p.Asn197Lys)
c.678C>G (p.Asn226Lys)
c.611C>G (p.Thr204Arg)
n.1156C>G
c.*460C>G (n.*460C>G)
c.780C>G (p.Asn260Lys)
c.765C>G (p.Asn255Lys)
c.762C>G (p.Asn254Lys)
c.675C>G (p.Asn225Lys)
c.594C>G (p.Asn198Lys)
c.690C>G (p.Asn230Lys)
n.1188C>G
c.327C>G (p.Asn109Lys)
c.630C>G (p.Asn210Lys)
c.342C>G (p.Asn114Lys)
c.777C>G (p.Asn259Lys)
8g.71299180G>TCA371467355EYA1c.693C>A (p.Asn231Lys)
c.591C>A (p.Asn197Lys)
c.678C>A (p.Asn226Lys)
c.611C>A (p.Thr204Lys)
n.1156C>A
c.*460C>A (n.*460C>A)
c.780C>A (p.Asn260Lys)
c.765C>A (p.Asn255Lys)
c.762C>A (p.Asn254Lys)
c.675C>A (p.Asn225Lys)
c.594C>A (p.Asn198Lys)
c.690C>A (p.Asn230Lys)
n.1188C>A
c.327C>A (p.Asn109Lys)
c.630C>A (p.Asn210Lys)
c.342C>A (p.Asn114Lys)
c.777C>A (p.Asn259Lys)
8g.71299181T>ACA371467356EYA1c.692A>T (p.Asn231Ile)
c.590A>T (p.Asn197Ile)
c.677A>T (p.Asn226Ile)
c.610A>T (p.Thr204Ser)
n.1155A>T
c.*459A>T (n.*459A>T)
c.779A>T (p.Asn260Ile)
c.764A>T (p.Asn255Ile)
c.761A>T (p.Asn254Ile)
c.674A>T (p.Asn225Ile)
c.593A>T (p.Asn198Ile)
c.689A>T (p.Asn230Ile)
n.1187A>T
c.326A>T (p.Asn109Ile)
c.629A>T (p.Asn210Ile)
c.341A>T (p.Asn114Ile)
c.776A>T (p.Asn259Ile)
8g.71299181T>CCA371467357EYA1c.692A>G (p.Asn231Ser)
c.590A>G (p.Asn197Ser)
c.677A>G (p.Asn226Ser)
c.610A>G (p.Thr204Ala)
n.1155A>G
c.*459A>G (n.*459A>G)
c.779A>G (p.Asn260Ser)
c.764A>G (p.Asn255Ser)
c.761A>G (p.Asn254Ser)
c.674A>G (p.Asn225Ser)
c.593A>G (p.Asn198Ser)
c.689A>G (p.Asn230Ser)
n.1187A>G
c.326A>G (p.Asn109Ser)
c.629A>G (p.Asn210Ser)
c.341A>G (p.Asn114Ser)
c.776A>G (p.Asn259Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.71299181T>GCA371467358EYA1c.692A>C (p.Asn231Thr)
c.590A>C (p.Asn197Thr)
c.677A>C (p.Asn226Thr)
c.610A>C (p.Thr204Pro)
n.1155A>C
c.*459A>C (n.*459A>C)
c.779A>C (p.Asn260Thr)
c.764A>C (p.Asn255Thr)
c.761A>C (p.Asn254Thr)
c.674A>C (p.Asn225Thr)
c.593A>C (p.Asn198Thr)
c.689A>C (p.Asn230Thr)
n.1187A>C
c.326A>C (p.Asn109Thr)
c.629A>C (p.Asn210Thr)
c.341A>C (p.Asn114Thr)
c.776A>C (p.Asn259Thr)
 dbSNP gnomAD v4
8g.71299181T=CA1792728365EYA1c.692A= (p.Asn231=)
c.590A= (p.Asn197=)
c.677A= (p.Asn226=)
c.610A= (p.Thr204=)
n.1155A=
c.*459A= (n.*459A=)
c.779A= (p.Asn260=)
c.764A= (p.Asn255=)
c.761A= (p.Asn254=)
c.674A= (p.Asn225=)
c.593A= (p.Asn198=)
c.689A= (p.Asn230=)
n.1187A=
c.326A= (p.Asn109=)
c.629A= (p.Asn210=)
c.341A= (p.Asn114=)
c.776A= (p.Asn259=)
8g.71299182T>ACA371467359EYA1c.691A>T (p.Asn231Tyr)
c.589A>T (p.Asn197Tyr)
c.676A>T (p.Asn226Tyr)
c.609A>T (p.Ile203=)
n.1154A>T
c.*458A>T (n.*458A>T)
c.778A>T (p.Asn260Tyr)
c.763A>T (p.Asn255Tyr)
c.760A>T (p.Asn254Tyr)
c.673A>T (p.Asn225Tyr)
c.592A>T (p.Asn198Tyr)
c.688A>T (p.Asn230Tyr)
n.1186A>T
c.325A>T (p.Asn109Tyr)
c.628A>T (p.Asn210Tyr)
c.340A>T (p.Asn114Tyr)
c.775A>T (p.Asn259Tyr)
8g.71299182T>CCA371467360EYA1c.691A>G (p.Asn231Asp)
c.589A>G (p.Asn197Asp)
c.676A>G (p.Asn226Asp)
c.609A>G (p.Ile203Met)
n.1154A>G
c.*458A>G (n.*458A>G)
c.778A>G (p.Asn260Asp)
c.763A>G (p.Asn255Asp)
c.760A>G (p.Asn254Asp)
c.673A>G (p.Asn225Asp)
c.592A>G (p.Asn198Asp)
c.688A>G (p.Asn230Asp)
n.1186A>G
c.325A>G (p.Asn109Asp)
c.628A>G (p.Asn210Asp)
c.340A>G (p.Asn114Asp)
c.775A>G (p.Asn259Asp)
8g.71299182T>GCA371467361EYA1c.691A>C (p.Asn231His)
c.589A>C (p.Asn197His)
c.676A>C (p.Asn226His)
c.609A>C (p.Ile203=)
n.1154A>C
c.*458A>C (n.*458A>C)
c.778A>C (p.Asn260His)
c.763A>C (p.Asn255His)
c.760A>C (p.Asn254His)
c.673A>C (p.Asn225His)
c.592A>C (p.Asn198His)
c.688A>C (p.Asn230His)
n.1186A>C
c.325A>C (p.Asn109His)
c.628A>C (p.Asn210His)
c.340A>C (p.Asn114His)
c.775A>C (p.Asn259His)
8g.71299183A=CA1792728366EYA1c.690T= (p.Tyr230=)
c.588T= (p.Tyr196=)
c.675T= (p.Tyr225=)
c.608T= (p.Ile203=)
n.1153T=
c.*457T= (n.*457T=)
c.777T= (p.Tyr259=)
c.762T= (p.Tyr254=)
c.759T= (p.Tyr253=)
c.672T= (p.Tyr224=)
c.591T= (p.Tyr197=)
c.687T= (p.Tyr229=)
n.1185T=
c.324T= (p.Tyr108=)
c.627T= (p.Tyr209=)
c.339T= (p.Tyr113=)
c.774T= (p.Tyr258=)
8g.71299183A>CCA371467362EYA1c.690T>G (p.Tyr230Ter)
c.588T>G (p.Tyr196Ter)
c.675T>G (p.Tyr225Ter)
c.608T>G (p.Ile203Arg)
n.1153T>G
c.*457T>G (n.*457T>G)
c.777T>G (p.Tyr259Ter)
c.762T>G (p.Tyr254Ter)
c.759T>G (p.Tyr253Ter)
c.672T>G (p.Tyr224Ter)
c.591T>G (p.Tyr197Ter)
c.687T>G (p.Tyr229Ter)
n.1185T>G
c.324T>G (p.Tyr108Ter)
c.627T>G (p.Tyr209Ter)
c.339T>G (p.Tyr113Ter)
c.774T>G (p.Tyr258Ter)
8g.71299183A>GCA461327894EYA1c.690T>C (p.Tyr230=)
c.588T>C (p.Tyr196=)
c.675T>C (p.Tyr225=)
c.608T>C (p.Ile203Thr)
n.1153T>C
c.*457T>C (n.*457T>C)
c.777T>C (p.Tyr259=)
c.762T>C (p.Tyr254=)
c.759T>C (p.Tyr253=)
c.672T>C (p.Tyr224=)
c.591T>C (p.Tyr197=)
c.687T>C (p.Tyr229=)
n.1185T>C
c.324T>C (p.Tyr108=)
c.627T>C (p.Tyr209=)
c.339T>C (p.Tyr113=)
c.774T>C (p.Tyr258=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71299183A>TCA371467363EYA1c.690T>A (p.Tyr230Ter)
c.588T>A (p.Tyr196Ter)
c.675T>A (p.Tyr225Ter)
c.608T>A (p.Ile203Lys)
n.1153T>A
c.*457T>A (n.*457T>A)
c.777T>A (p.Tyr259Ter)
c.762T>A (p.Tyr254Ter)
c.759T>A (p.Tyr253Ter)
c.672T>A (p.Tyr224Ter)
c.591T>A (p.Tyr197Ter)
c.687T>A (p.Tyr229Ter)
n.1185T>A
c.324T>A (p.Tyr108Ter)
c.627T>A (p.Tyr209Ter)
c.339T>A (p.Tyr113Ter)
c.774T>A (p.Tyr258Ter)
8g.71299184T>ACA371467364EYA1c.689A>T (p.Tyr230Phe)
c.587A>T (p.Tyr196Phe)
c.674A>T (p.Tyr225Phe)
c.607A>T (p.Ile203Leu)
n.1152A>T
c.*456A>T (n.*456A>T)
c.776A>T (p.Tyr259Phe)
c.761A>T (p.Tyr254Phe)
c.758A>T (p.Tyr253Phe)
c.671A>T (p.Tyr224Phe)
c.590A>T (p.Tyr197Phe)
c.686A>T (p.Tyr229Phe)
n.1184A>T
c.323A>T (p.Tyr108Phe)
c.626A>T (p.Tyr209Phe)
c.338A>T (p.Tyr113Phe)
c.773A>T (p.Tyr258Phe)
8g.71299184T>CCA371467365EYA1c.689A>G (p.Tyr230Cys)
c.587A>G (p.Tyr196Cys)
c.674A>G (p.Tyr225Cys)
c.607A>G (p.Ile203Val)
n.1152A>G
c.*456A>G (n.*456A>G)
c.776A>G (p.Tyr259Cys)
c.761A>G (p.Tyr254Cys)
c.758A>G (p.Tyr253Cys)
c.671A>G (p.Tyr224Cys)
c.590A>G (p.Tyr197Cys)
c.686A>G (p.Tyr229Cys)
n.1184A>G
c.323A>G (p.Tyr108Cys)
c.626A>G (p.Tyr209Cys)
c.338A>G (p.Tyr113Cys)
c.773A>G (p.Tyr258Cys)
 ClinVar dbSNP
8g.71299184T>GCA371467366EYA1c.689A>C (p.Tyr230Ser)
c.587A>C (p.Tyr196Ser)
c.674A>C (p.Tyr225Ser)
c.607A>C (p.Ile203Leu)
n.1152A>C
c.*456A>C (n.*456A>C)
c.776A>C (p.Tyr259Ser)
c.761A>C (p.Tyr254Ser)
c.758A>C (p.Tyr253Ser)
c.671A>C (p.Tyr224Ser)
c.590A>C (p.Tyr197Ser)
c.686A>C (p.Tyr229Ser)
n.1184A>C
c.323A>C (p.Tyr108Ser)
c.626A>C (p.Tyr209Ser)
c.338A>C (p.Tyr113Ser)
c.773A>C (p.Tyr258Ser)
8g.71299184T=CA1792728367EYA1c.689A= (p.Tyr230=)
c.587A= (p.Tyr196=)
c.674A= (p.Tyr225=)
c.607A= (p.Ile203=)
n.1152A=
c.*456A= (n.*456A=)
c.776A= (p.Tyr259=)
c.761A= (p.Tyr254=)
c.758A= (p.Tyr253=)
c.671A= (p.Tyr224=)
c.590A= (p.Tyr197=)
c.686A= (p.Tyr229=)
n.1184A=
c.323A= (p.Tyr108=)
c.626A= (p.Tyr209=)
c.338A= (p.Tyr113=)
c.773A= (p.Tyr258=)
8g.71299185A>CCA371467367EYA1c.688T>G (p.Tyr230Asp)
c.586T>G (p.Tyr196Asp)
c.673T>G (p.Tyr225Asp)
c.606T>G (p.Ile202Met)
n.1151T>G
c.*455T>G (n.*455T>G)
c.775T>G (p.Tyr259Asp)
c.760T>G (p.Tyr254Asp)
c.757T>G (p.Tyr253Asp)
c.670T>G (p.Tyr224Asp)
c.589T>G (p.Tyr197Asp)
c.685T>G (p.Tyr229Asp)
n.1183T>G
c.322T>G (p.Tyr108Asp)
c.625T>G (p.Tyr209Asp)
c.337T>G (p.Tyr113Asp)
c.772T>G (p.Tyr258Asp)
8g.71299185A>GCA371467368EYA1c.688T>C (p.Tyr230His)
c.586T>C (p.Tyr196His)
c.673T>C (p.Tyr225His)
c.606T>C (p.Ile202=)
n.1151T>C
c.*455T>C (n.*455T>C)
c.775T>C (p.Tyr259His)
c.760T>C (p.Tyr254His)
c.757T>C (p.Tyr253His)
c.670T>C (p.Tyr224His)
c.589T>C (p.Tyr197His)
c.685T>C (p.Tyr229His)
n.1183T>C
c.322T>C (p.Tyr108His)
c.625T>C (p.Tyr209His)
c.337T>C (p.Tyr113His)
c.772T>C (p.Tyr258His)
8g.71299185A>TCA371467369EYA1c.688T>A (p.Tyr230Asn)
c.586T>A (p.Tyr196Asn)
c.673T>A (p.Tyr225Asn)
c.606T>A (p.Ile202=)
n.1151T>A
c.*455T>A (n.*455T>A)
c.775T>A (p.Tyr259Asn)
c.760T>A (p.Tyr254Asn)
c.757T>A (p.Tyr253Asn)
c.670T>A (p.Tyr224Asn)
c.589T>A (p.Tyr197Asn)
c.685T>A (p.Tyr229Asn)
n.1183T>A
c.322T>A (p.Tyr108Asn)
c.625T>A (p.Tyr209Asn)
c.337T>A (p.Tyr113Asn)
c.772T>A (p.Tyr258Asn)
8g.71299186A>CCA371467370EYA1c.687T>G (p.Tyr229Ter)
c.585T>G (p.Tyr195Ter)
c.672T>G (p.Tyr224Ter)
c.605T>G (p.Ile202Ser)
n.1150T>G
c.*454T>G (n.*454T>G)
c.774T>G (p.Tyr258Ter)
c.759T>G (p.Tyr253Ter)
c.756T>G (p.Tyr252Ter)
c.669T>G (p.Tyr223Ter)
c.588T>G (p.Tyr196Ter)
c.684T>G (p.Tyr228Ter)
n.1182T>G
c.321T>G (p.Tyr107Ter)
c.624T>G (p.Tyr208Ter)
c.336T>G (p.Tyr112Ter)
c.771T>G (p.Tyr257Ter)
8g.71299186A>GCA461327895EYA1c.687T>C (p.Tyr229=)
c.585T>C (p.Tyr195=)
c.672T>C (p.Tyr224=)
c.605T>C (p.Ile202Thr)
n.1150T>C
c.*454T>C (n.*454T>C)
c.774T>C (p.Tyr258=)
c.759T>C (p.Tyr253=)
c.756T>C (p.Tyr252=)
c.669T>C (p.Tyr223=)
c.588T>C (p.Tyr196=)
c.684T>C (p.Tyr228=)
n.1182T>C
c.321T>C (p.Tyr107=)
c.624T>C (p.Tyr208=)
c.336T>C (p.Tyr112=)
c.771T>C (p.Tyr257=)
 gnomAD v4
8g.71299186A>TCA371467371EYA1c.687T>A (p.Tyr229Ter)
c.585T>A (p.Tyr195Ter)
c.672T>A (p.Tyr224Ter)
c.605T>A (p.Ile202Asn)
n.1150T>A
c.*454T>A (n.*454T>A)
c.774T>A (p.Tyr258Ter)
c.759T>A (p.Tyr253Ter)
c.756T>A (p.Tyr252Ter)
c.669T>A (p.Tyr223Ter)
c.588T>A (p.Tyr196Ter)
c.684T>A (p.Tyr228Ter)
n.1182T>A
c.321T>A (p.Tyr107Ter)
c.624T>A (p.Tyr208Ter)
c.336T>A (p.Tyr112Ter)
c.771T>A (p.Tyr257Ter)
8g.71299187T>ACA371467372EYA1c.686A>T (p.Tyr229Phe)
c.584A>T (p.Tyr195Phe)
c.671A>T (p.Tyr224Phe)
c.604A>T (p.Ile202Phe)
n.1149A>T
c.*453A>T (n.*453A>T)
c.773A>T (p.Tyr258Phe)
c.758A>T (p.Tyr253Phe)
c.755A>T (p.Tyr252Phe)
c.668A>T (p.Tyr223Phe)
c.587A>T (p.Tyr196Phe)
c.683A>T (p.Tyr228Phe)
n.1181A>T
c.320A>T (p.Tyr107Phe)
c.623A>T (p.Tyr208Phe)
c.335A>T (p.Tyr112Phe)
c.770A>T (p.Tyr257Phe)
8g.71299187T>CCA371467373EYA1c.686A>G (p.Tyr229Cys)
c.584A>G (p.Tyr195Cys)
c.671A>G (p.Tyr224Cys)
c.604A>G (p.Ile202Val)
n.1149A>G
c.*453A>G (n.*453A>G)
c.773A>G (p.Tyr258Cys)
c.758A>G (p.Tyr253Cys)
c.755A>G (p.Tyr252Cys)
c.668A>G (p.Tyr223Cys)
c.587A>G (p.Tyr196Cys)
c.683A>G (p.Tyr228Cys)
n.1181A>G
c.320A>G (p.Tyr107Cys)
c.623A>G (p.Tyr208Cys)
c.335A>G (p.Tyr112Cys)
c.770A>G (p.Tyr257Cys)
8g.71299187T>GCA371467374EYA1c.686A>C (p.Tyr229Ser)
c.584A>C (p.Tyr195Ser)
c.671A>C (p.Tyr224Ser)
c.604A>C (p.Ile202Leu)
n.1149A>C
c.*453A>C (n.*453A>C)
c.773A>C (p.Tyr258Ser)
c.758A>C (p.Tyr253Ser)
c.755A>C (p.Tyr252Ser)
c.668A>C (p.Tyr223Ser)
c.587A>C (p.Tyr196Ser)
c.683A>C (p.Tyr228Ser)
n.1181A>C
c.320A>C (p.Tyr107Ser)
c.623A>C (p.Tyr208Ser)
c.335A>C (p.Tyr112Ser)
c.770A>C (p.Tyr257Ser)
8g.71299188_71299192dupCA2573053053EYA1c.682_686dup (p.Tyr230SerfsTer13)
c.580_584dup (p.Tyr196SerfsTer13)
c.667_671dup (p.Tyr225SerfsTer13)
c.600_604dup (p.Ile202ThrfsTer4)
n.1145_1149dup
c.*449_*453dup (n.*449_*453dup)
c.769_773dup (p.Tyr259SerfsTer13)
c.754_758dup (p.Tyr254SerfsTer13)
c.751_755dup (p.Tyr253SerfsTer13)
c.664_668dup (p.Tyr224SerfsTer13)
c.583_587dup (p.Tyr197SerfsTer13)
c.679_683dup (p.Tyr229SerfsTer13)
n.1177_1181dup
c.316_320dup (p.Tyr108SerfsTer13)
c.619_623dup (p.Tyr209SerfsTer13)
c.331_335dup (p.Tyr113SerfsTer13)
c.766_770dup (p.Tyr258SerfsTer13)
 ClinVar dbSNP
8g.71299188A=CA1792728368EYA1c.685T= (p.Tyr229=)
c.583T= (p.Tyr195=)
c.670T= (p.Tyr224=)
c.603T= (p.Ser201=)
n.1148T=
c.*452T= (n.*452T=)
c.772T= (p.Tyr258=)
c.757T= (p.Tyr253=)
c.754T= (p.Tyr252=)
c.667T= (p.Tyr223=)
c.586T= (p.Tyr196=)
c.682T= (p.Tyr228=)
n.1180T=
c.319T= (p.Tyr107=)
c.622T= (p.Tyr208=)
c.334T= (p.Tyr112=)
c.769T= (p.Tyr257=)
8g.71299188A>CCA371467375EYA1c.685T>G (p.Tyr229Asp)
c.583T>G (p.Tyr195Asp)
c.670T>G (p.Tyr224Asp)
c.603T>G (p.Ser201Arg)
n.1148T>G
c.*452T>G (n.*452T>G)
c.772T>G (p.Tyr258Asp)
c.757T>G (p.Tyr253Asp)
c.754T>G (p.Tyr252Asp)
c.667T>G (p.Tyr223Asp)
c.586T>G (p.Tyr196Asp)
c.682T>G (p.Tyr228Asp)
n.1180T>G
c.319T>G (p.Tyr107Asp)
c.622T>G (p.Tyr208Asp)
c.334T>G (p.Tyr112Asp)
c.769T>G (p.Tyr257Asp)
8g.71299188A>GCA179208664EYA1c.685T>C (p.Tyr229His)
c.583T>C (p.Tyr195His)
c.670T>C (p.Tyr224His)
c.603T>C (p.Ser201=)
n.1148T>C
c.*452T>C (n.*452T>C)
c.772T>C (p.Tyr258His)
c.757T>C (p.Tyr253His)
c.754T>C (p.Tyr252His)
c.667T>C (p.Tyr223His)
c.586T>C (p.Tyr196His)
c.682T>C (p.Tyr228His)
n.1180T>C
c.319T>C (p.Tyr107His)
c.622T>C (p.Tyr208His)
c.334T>C (p.Tyr112His)
c.769T>C (p.Tyr257His)
 dbSNP
8g.71299188A>TCA371467376EYA1c.685T>A (p.Tyr229Asn)
c.583T>A (p.Tyr195Asn)
c.670T>A (p.Tyr224Asn)
c.603T>A (p.Ser201Arg)
n.1148T>A
c.*452T>A (n.*452T>A)
c.772T>A (p.Tyr258Asn)
c.757T>A (p.Tyr253Asn)
c.754T>A (p.Tyr252Asn)
c.667T>A (p.Tyr223Asn)
c.586T>A (p.Tyr196Asn)
c.682T>A (p.Tyr228Asn)
n.1180T>A
c.319T>A (p.Tyr107Asn)
c.622T>A (p.Tyr208Asn)
c.334T>A (p.Tyr112Asn)
c.769T>A (p.Tyr257Asn)
 gnomAD v4 COSMIC COSMIC
8g.71299189C>ACA371467377EYA1c.684G>T (p.Gln228His)
c.582G>T (p.Gln194His)
c.669G>T (p.Gln223His)
c.602G>T (p.Ser201Ile)
n.1147G>T
c.*451G>T (n.*451G>T)
c.771G>T (p.Gln257His)
c.756G>T (p.Gln252His)
c.753G>T (p.Gln251His)
c.666G>T (p.Gln222His)
c.585G>T (p.Gln195His)
c.681G>T (p.Gln227His)
n.1179G>T
c.318G>T (p.Gln106His)
c.621G>T (p.Gln207His)
c.333G>T (p.Gln111His)
c.768G>T (p.Gln256His)
8g.71299189C=CA1792728369EYA1c.684G= (p.Gln228=)
c.582G= (p.Gln194=)
c.669G= (p.Gln223=)
c.602G= (p.Ser201=)
n.1147G=
c.*451G= (n.*451G=)
c.771G= (p.Gln257=)
c.756G= (p.Gln252=)
c.753G= (p.Gln251=)
c.666G= (p.Gln222=)
c.585G= (p.Gln195=)
c.681G= (p.Gln227=)
n.1179G=
c.318G= (p.Gln106=)
c.621G= (p.Gln207=)
c.333G= (p.Gln111=)
c.768G= (p.Gln256=)
8g.71299189C>GCA371467378EYA1c.684G>C (p.Gln228His)
c.582G>C (p.Gln194His)
c.669G>C (p.Gln223His)
c.602G>C (p.Ser201Thr)
n.1147G>C
c.*451G>C (n.*451G>C)
c.771G>C (p.Gln257His)
c.756G>C (p.Gln252His)
c.753G>C (p.Gln251His)
c.666G>C (p.Gln222His)
c.585G>C (p.Gln195His)
c.681G>C (p.Gln227His)
n.1179G>C
c.318G>C (p.Gln106His)
c.621G>C (p.Gln207His)
c.333G>C (p.Gln111His)
c.768G>C (p.Gln256His)
 dbSNP
8g.71299189C>TCA461327896EYA1c.684G>A (p.Gln228=)
c.582G>A (p.Gln194=)
c.669G>A (p.Gln223=)
c.602G>A (p.Ser201Asn)
n.1147G>A
c.*451G>A (n.*451G>A)
c.771G>A (p.Gln257=)
c.756G>A (p.Gln252=)
c.753G>A (p.Gln251=)
c.666G>A (p.Gln222=)
c.585G>A (p.Gln195=)
c.681G>A (p.Gln227=)
n.1179G>A
c.318G>A (p.Gln106=)
c.621G>A (p.Gln207=)
c.333G>A (p.Gln111=)
c.768G>A (p.Gln256=)
 ClinVar gnomAD v4
8g.71299190T>ACA371467379EYA1c.683A>T (p.Gln228Leu)
c.581A>T (p.Gln194Leu)
c.668A>T (p.Gln223Leu)
c.601A>T (p.Ser201Cys)
n.1146A>T
c.*450A>T (n.*450A>T)
c.770A>T (p.Gln257Leu)
c.755A>T (p.Gln252Leu)
c.752A>T (p.Gln251Leu)
c.665A>T (p.Gln222Leu)
c.584A>T (p.Gln195Leu)
c.680A>T (p.Gln227Leu)
n.1178A>T
c.317A>T (p.Gln106Leu)
c.620A>T (p.Gln207Leu)
c.332A>T (p.Gln111Leu)
c.767A>T (p.Gln256Leu)
8g.71299190T>CCA371467380EYA1c.683A>G (p.Gln228Arg)
c.581A>G (p.Gln194Arg)
c.668A>G (p.Gln223Arg)
c.601A>G (p.Ser201Gly)
n.1146A>G
c.*450A>G (n.*450A>G)
c.770A>G (p.Gln257Arg)
c.755A>G (p.Gln252Arg)
c.752A>G (p.Gln251Arg)
c.665A>G (p.Gln222Arg)
c.584A>G (p.Gln195Arg)
c.680A>G (p.Gln227Arg)
n.1178A>G
c.317A>G (p.Gln106Arg)
c.620A>G (p.Gln207Arg)
c.332A>G (p.Gln111Arg)
c.767A>G (p.Gln256Arg)
 dbSNP
8g.71299190T>GCA371467381EYA1c.683A>C (p.Gln228Pro)
c.581A>C (p.Gln194Pro)
c.668A>C (p.Gln223Pro)
c.601A>C (p.Ser201Arg)
n.1146A>C
c.*450A>C (n.*450A>C)
c.770A>C (p.Gln257Pro)
c.755A>C (p.Gln252Pro)
c.752A>C (p.Gln251Pro)
c.665A>C (p.Gln222Pro)
c.584A>C (p.Gln195Pro)
c.680A>C (p.Gln227Pro)
n.1178A>C
c.317A>C (p.Gln106Pro)
c.620A>C (p.Gln207Pro)
c.332A>C (p.Gln111Pro)
c.767A>C (p.Gln256Pro)
8g.71299190T=CA1792728370EYA1c.683A= (p.Gln228=)
c.581A= (p.Gln194=)
c.668A= (p.Gln223=)
c.601A= (p.Ser201=)
n.1146A=
c.*450A= (n.*450A=)
c.770A= (p.Gln257=)
c.755A= (p.Gln252=)
c.752A= (p.Gln251=)
c.665A= (p.Gln222=)
c.584A= (p.Gln195=)
c.680A= (p.Gln227=)
n.1178A=
c.317A= (p.Gln106=)
c.620A= (p.Gln207=)
c.332A= (p.Gln111=)
c.767A= (p.Gln256=)
8g.71299191G>ACA371467384EYA1c.682C>T (p.Gln228Ter)
c.580C>T (p.Gln194Ter)
c.667C>T (p.Gln223Ter)
c.600C>T (p.His200=)
n.1145C>T
c.*449C>T (n.*449C>T)
c.769C>T (p.Gln257Ter)
c.754C>T (p.Gln252Ter)
c.751C>T (p.Gln251Ter)
c.664C>T (p.Gln222Ter)
c.583C>T (p.Gln195Ter)
c.679C>T (p.Gln227Ter)
n.1177C>T
c.316C>T (p.Gln106Ter)
c.619C>T (p.Gln207Ter)
c.331C>T (p.Gln111Ter)
c.766C>T (p.Gln256Ter)
 ClinVar dbSNP
8g.71299191G>CCA371467383EYA1c.682C>G (p.Gln228Glu)
c.580C>G (p.Gln194Glu)
c.667C>G (p.Gln223Glu)
c.600C>G (p.His200Gln)
n.1145C>G
c.*449C>G (n.*449C>G)
c.769C>G (p.Gln257Glu)
c.754C>G (p.Gln252Glu)
c.751C>G (p.Gln251Glu)
c.664C>G (p.Gln222Glu)
c.583C>G (p.Gln195Glu)
c.679C>G (p.Gln227Glu)
n.1177C>G
c.316C>G (p.Gln106Glu)
c.619C>G (p.Gln207Glu)
c.331C>G (p.Gln111Glu)
c.766C>G (p.Gln256Glu)
8g.71299191G=CA1792728371EYA1c.682C= (p.Gln228=)
c.580C= (p.Gln194=)
c.667C= (p.Gln223=)
c.600C= (p.His200=)
n.1145C=
c.*449C= (n.*449C=)
c.769C= (p.Gln257=)
c.754C= (p.Gln252=)
c.751C= (p.Gln251=)
c.664C= (p.Gln222=)
c.583C= (p.Gln195=)
c.679C= (p.Gln227=)
n.1177C=
c.316C= (p.Gln106=)
c.619C= (p.Gln207=)
c.331C= (p.Gln111=)
c.766C= (p.Gln256=)
8g.71299191G>TCA371467382EYA1c.682C>A (p.Gln228Lys)
c.580C>A (p.Gln194Lys)
c.667C>A (p.Gln223Lys)
c.600C>A (p.His200Gln)
n.1145C>A
c.*449C>A (n.*449C>A)
c.769C>A (p.Gln257Lys)
c.754C>A (p.Gln252Lys)
c.751C>A (p.Gln251Lys)
c.664C>A (p.Gln222Lys)
c.583C>A (p.Gln195Lys)
c.679C>A (p.Gln227Lys)
n.1177C>A
c.316C>A (p.Gln106Lys)
c.619C>A (p.Gln207Lys)
c.331C>A (p.Gln111Lys)
c.766C>A (p.Gln256Lys)
8g.71299192T>ACA461327900EYA1c.681A>T (p.Ala227=)
c.579A>T (p.Ala193=)
c.666A>T (p.Ala222=)
c.599A>T (p.His200Leu)
n.1144A>T
c.*448A>T (n.*448A>T)
c.768A>T (p.Ala256=)
c.753A>T (p.Ala251=)
c.750A>T (p.Ala250=)
c.663A>T (p.Ala221=)
c.582A>T (p.Ala194=)
c.678A>T (p.Ala226=)
n.1176A>T
c.315A>T (p.Ala105=)
c.618A>T (p.Ala206=)
c.330A>T (p.Ala110=)
c.765A>T (p.Ala255=)
8g.71299192T>CCA461327898EYA1c.681A>G (p.Ala227=)
c.579A>G (p.Ala193=)
c.666A>G (p.Ala222=)
c.599A>G (p.His200Arg)
n.1144A>G
c.*448A>G (n.*448A>G)
c.768A>G (p.Ala256=)
c.753A>G (p.Ala251=)
c.750A>G (p.Ala250=)
c.663A>G (p.Ala221=)
c.582A>G (p.Ala194=)
c.678A>G (p.Ala226=)
n.1176A>G
c.315A>G (p.Ala105=)
c.618A>G (p.Ala206=)
c.330A>G (p.Ala110=)
c.765A>G (p.Ala255=)
8g.71299192T>GCA461327899EYA1c.681A>C (p.Ala227=)
c.579A>C (p.Ala193=)
c.666A>C (p.Ala222=)
c.599A>C (p.His200Pro)
n.1144A>C
c.*448A>C (n.*448A>C)
c.768A>C (p.Ala256=)
c.753A>C (p.Ala251=)
c.750A>C (p.Ala250=)
c.663A>C (p.Ala221=)
c.582A>C (p.Ala194=)
c.678A>C (p.Ala226=)
n.1176A>C
c.315A>C (p.Ala105=)
c.618A>C (p.Ala206=)
c.330A>C (p.Ala110=)
c.765A>C (p.Ala255=)
8g.71299193G>ACA371467385EYA1c.680C>T (p.Ala227Val)
c.578C>T (p.Ala193Val)
c.665C>T (p.Ala222Val)
c.598C>T (p.His200Tyr)
n.1143C>T
c.*447C>T (n.*447C>T)
c.767C>T (p.Ala256Val)
c.752C>T (p.Ala251Val)
c.749C>T (p.Ala250Val)
c.662C>T (p.Ala221Val)
c.581C>T (p.Ala194Val)
c.677C>T (p.Ala226Val)
n.1175C>T
c.314C>T (p.Ala105Val)
c.617C>T (p.Ala206Val)
c.329C>T (p.Ala110Val)
c.764C>T (p.Ala255Val)
8g.71299193G>CCA371467386EYA1c.680C>G (p.Ala227Gly)
c.578C>G (p.Ala193Gly)
c.665C>G (p.Ala222Gly)
c.598C>G (p.His200Asp)
n.1143C>G
c.*447C>G (n.*447C>G)
c.767C>G (p.Ala256Gly)
c.752C>G (p.Ala251Gly)
c.749C>G (p.Ala250Gly)
c.662C>G (p.Ala221Gly)
c.581C>G (p.Ala194Gly)
c.677C>G (p.Ala226Gly)
n.1175C>G
c.314C>G (p.Ala105Gly)
c.617C>G (p.Ala206Gly)
c.329C>G (p.Ala110Gly)
c.764C>G (p.Ala255Gly)
 dbSNP
8g.71299193G=CA1792728372EYA1c.680C= (p.Ala227=)
c.578C= (p.Ala193=)
c.665C= (p.Ala222=)
c.598C= (p.His200=)
n.1143C=
c.*447C= (n.*447C=)
c.767C= (p.Ala256=)
c.752C= (p.Ala251=)
c.749C= (p.Ala250=)
c.662C= (p.Ala221=)
c.581C= (p.Ala194=)
c.677C= (p.Ala226=)
n.1175C=
c.314C= (p.Ala105=)
c.617C= (p.Ala206=)
c.329C= (p.Ala110=)
c.764C= (p.Ala255=)
8g.71299193G>TCA179208667EYA1c.680C>A (p.Ala227Glu)
c.578C>A (p.Ala193Glu)
c.665C>A (p.Ala222Glu)
c.598C>A (p.His200Asn)
n.1143C>A
c.*447C>A (n.*447C>A)
c.767C>A (p.Ala256Glu)
c.752C>A (p.Ala251Glu)
c.749C>A (p.Ala250Glu)
c.662C>A (p.Ala221Glu)
c.581C>A (p.Ala194Glu)
c.677C>A (p.Ala226Glu)
n.1175C>A
c.314C>A (p.Ala105Glu)
c.617C>A (p.Ala206Glu)
c.329C>A (p.Ala110Glu)
c.764C>A (p.Ala255Glu)
 dbSNP
8g.71299194C>ACA371467387EYA1c.679G>T (p.Ala227Ser)
c.577G>T (p.Ala193Ser)
c.664G>T (p.Ala222Ser)
c.597G>T (p.Thr199=)
n.1142G>T
c.*446G>T (n.*446G>T)
c.766G>T (p.Ala256Ser)
c.751G>T (p.Ala251Ser)
c.748G>T (p.Ala250Ser)
c.661G>T (p.Ala221Ser)
c.580G>T (p.Ala194Ser)
c.676G>T (p.Ala226Ser)
n.1174G>T
c.313G>T (p.Ala105Ser)
c.616G>T (p.Ala206Ser)
c.328G>T (p.Ala110Ser)
c.763G>T (p.Ala255Ser)
 gnomAD v4
8g.71299194C=CA1792728373EYA1c.679G= (p.Ala227=)
c.577G= (p.Ala193=)
c.664G= (p.Ala222=)
c.597G= (p.Thr199=)
n.1142G=
c.*446G= (n.*446G=)
c.766G= (p.Ala256=)
c.751G= (p.Ala251=)
c.748G= (p.Ala250=)
c.661G= (p.Ala221=)
c.580G= (p.Ala194=)
c.676G= (p.Ala226=)
n.1174G=
c.313G= (p.Ala105=)
c.616G= (p.Ala206=)
c.328G= (p.Ala110=)
c.763G= (p.Ala255=)
8g.71299194C>GCA4779687EYA1c.679G>C (p.Ala227Pro)
c.577G>C (p.Ala193Pro)
c.664G>C (p.Ala222Pro)
c.597G>C (p.Thr199=)
n.1142G>C
c.*446G>C (n.*446G>C)
c.766G>C (p.Ala256Pro)
c.751G>C (p.Ala251Pro)
c.748G>C (p.Ala250Pro)
c.661G>C (p.Ala221Pro)
c.580G>C (p.Ala194Pro)
c.676G>C (p.Ala226Pro)
n.1174G>C
c.313G>C (p.Ala105Pro)
c.616G>C (p.Ala206Pro)
c.328G>C (p.Ala110Pro)
c.763G>C (p.Ala255Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71299194C>TCA4779686EYA1c.679G>A (p.Ala227Thr)
c.577G>A (p.Ala193Thr)
c.664G>A (p.Ala222Thr)
c.597G>A (p.Thr199=)
n.1142G>A
c.*446G>A (n.*446G>A)
c.766G>A (p.Ala256Thr)
c.751G>A (p.Ala251Thr)
c.748G>A (p.Ala250Thr)
c.661G>A (p.Ala221Thr)
c.580G>A (p.Ala194Thr)
c.676G>A (p.Ala226Thr)
n.1174G>A
c.313G>A (p.Ala105Thr)
c.616G>A (p.Ala206Thr)
c.328G>A (p.Ala110Thr)
c.763G>A (p.Ala255Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299195G>ACA4779688EYA1c.678C>T (p.Tyr226=)
c.576C>T (p.Tyr192=)
c.663C>T (p.Tyr221=)
c.596C>T (p.Thr199Met)
n.1141C>T
c.*445C>T (n.*445C>T)
c.765C>T (p.Tyr255=)
c.750C>T (p.Tyr250=)
c.747C>T (p.Tyr249=)
c.660C>T (p.Tyr220=)
c.579C>T (p.Tyr193=)
c.675C>T (p.Tyr225=)
n.1173C>T
c.312C>T (p.Tyr104=)
c.615C>T (p.Tyr205=)
c.327C>T (p.Tyr109=)
c.762C>T (p.Tyr254=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.71299195G>CCA371467389EYA1c.678C>G (p.Tyr226Ter)
c.576C>G (p.Tyr192Ter)
c.663C>G (p.Tyr221Ter)
c.596C>G (p.Thr199Arg)
n.1141C>G
c.*445C>G (n.*445C>G)
c.765C>G (p.Tyr255Ter)
c.750C>G (p.Tyr250Ter)
c.747C>G (p.Tyr249Ter)
c.660C>G (p.Tyr220Ter)
c.579C>G (p.Tyr193Ter)
c.675C>G (p.Tyr225Ter)
n.1173C>G
c.312C>G (p.Tyr104Ter)
c.615C>G (p.Tyr205Ter)
c.327C>G (p.Tyr109Ter)
c.762C>G (p.Tyr254Ter)
 ClinVar
8g.71299195G=CA1792728374EYA1c.678C= (p.Tyr226=)
c.576C= (p.Tyr192=)
c.663C= (p.Tyr221=)
c.596C= (p.Thr199=)
n.1141C=
c.*445C= (n.*445C=)
c.765C= (p.Tyr255=)
c.750C= (p.Tyr250=)
c.747C= (p.Tyr249=)
c.660C= (p.Tyr220=)
c.579C= (p.Tyr193=)
c.675C= (p.Tyr225=)
n.1173C=
c.312C= (p.Tyr104=)
c.615C= (p.Tyr205=)
c.327C= (p.Tyr109=)
c.762C= (p.Tyr254=)
8g.71299195G>TCA371467388EYA1c.678C>A (p.Tyr226Ter)
c.576C>A (p.Tyr192Ter)
c.663C>A (p.Tyr221Ter)
c.596C>A (p.Thr199Lys)
n.1141C>A
c.*445C>A (n.*445C>A)
c.765C>A (p.Tyr255Ter)
c.750C>A (p.Tyr250Ter)
c.747C>A (p.Tyr249Ter)
c.660C>A (p.Tyr220Ter)
c.579C>A (p.Tyr193Ter)
c.675C>A (p.Tyr225Ter)
n.1173C>A
c.312C>A (p.Tyr104Ter)
c.615C>A (p.Tyr205Ter)
c.327C>A (p.Tyr109Ter)
c.762C>A (p.Tyr254Ter)
 ClinVar dbSNP
8g.71299196T>ACA371467390EYA1c.677A>T (p.Tyr226Phe)
c.575A>T (p.Tyr192Phe)
c.662A>T (p.Tyr221Phe)
c.595A>T (p.Thr199Ser)
n.1140A>T
c.*444A>T (n.*444A>T)
c.764A>T (p.Tyr255Phe)
c.749A>T (p.Tyr250Phe)
c.746A>T (p.Tyr249Phe)
c.659A>T (p.Tyr220Phe)
c.578A>T (p.Tyr193Phe)
c.674A>T (p.Tyr225Phe)
n.1172A>T
c.311A>T (p.Tyr104Phe)
c.614A>T (p.Tyr205Phe)
c.326A>T (p.Tyr109Phe)
c.761A>T (p.Tyr254Phe)
8g.71299196T>CCA371467391EYA1c.677A>G (p.Tyr226Cys)
c.575A>G (p.Tyr192Cys)
c.662A>G (p.Tyr221Cys)
c.595A>G (p.Thr199Ala)
n.1140A>G
c.*444A>G (n.*444A>G)
c.764A>G (p.Tyr255Cys)
c.749A>G (p.Tyr250Cys)
c.746A>G (p.Tyr249Cys)
c.659A>G (p.Tyr220Cys)
c.578A>G (p.Tyr193Cys)
c.674A>G (p.Tyr225Cys)
n.1172A>G
c.311A>G (p.Tyr104Cys)
c.614A>G (p.Tyr205Cys)
c.326A>G (p.Tyr109Cys)
c.761A>G (p.Tyr254Cys)
8g.71299196T>GCA371467392EYA1c.677A>C (p.Tyr226Ser)
c.575A>C (p.Tyr192Ser)
c.662A>C (p.Tyr221Ser)
c.595A>C (p.Thr199Pro)
n.1140A>C
c.*444A>C (n.*444A>C)
c.764A>C (p.Tyr255Ser)
c.749A>C (p.Tyr250Ser)
c.746A>C (p.Tyr249Ser)
c.659A>C (p.Tyr220Ser)
c.578A>C (p.Tyr193Ser)
c.674A>C (p.Tyr225Ser)
n.1172A>C
c.311A>C (p.Tyr104Ser)
c.614A>C (p.Tyr205Ser)
c.326A>C (p.Tyr109Ser)
c.761A>C (p.Tyr254Ser)
8g.71299197A>CCA371467393EYA1c.676T>G (p.Tyr226Asp)
c.574T>G (p.Tyr192Asp)
c.661T>G (p.Tyr221Asp)
c.594T>G (p.Ser198Arg)
n.1139T>G
c.*443T>G (n.*443T>G)
c.763T>G (p.Tyr255Asp)
c.748T>G (p.Tyr250Asp)
c.745T>G (p.Tyr249Asp)
c.658T>G (p.Tyr220Asp)
c.577T>G (p.Tyr193Asp)
c.673T>G (p.Tyr225Asp)
n.1171T>G
c.310T>G (p.Tyr104Asp)
c.613T>G (p.Tyr205Asp)
c.325T>G (p.Tyr109Asp)
c.760T>G (p.Tyr254Asp)
8g.71299197A>GCA371467394EYA1c.676T>C (p.Tyr226His)
c.574T>C (p.Tyr192His)
c.661T>C (p.Tyr221His)
c.594T>C (p.Ser198=)
n.1139T>C
c.*443T>C (n.*443T>C)
c.763T>C (p.Tyr255His)
c.748T>C (p.Tyr250His)
c.745T>C (p.Tyr249His)
c.658T>C (p.Tyr220His)
c.577T>C (p.Tyr193His)
c.673T>C (p.Tyr225His)
n.1171T>C
c.310T>C (p.Tyr104His)
c.613T>C (p.Tyr205His)
c.325T>C (p.Tyr109His)
c.760T>C (p.Tyr254His)
8g.71299197A>TCA371467395EYA1c.676T>A (p.Tyr226Asn)
c.574T>A (p.Tyr192Asn)
c.661T>A (p.Tyr221Asn)
c.594T>A (p.Ser198Arg)
n.1139T>A
c.*443T>A (n.*443T>A)
c.763T>A (p.Tyr255Asn)
c.748T>A (p.Tyr250Asn)
c.745T>A (p.Tyr249Asn)
c.658T>A (p.Tyr220Asn)
c.577T>A (p.Tyr193Asn)
c.673T>A (p.Tyr225Asn)
n.1171T>A
c.310T>A (p.Tyr104Asn)
c.613T>A (p.Tyr205Asn)
c.325T>A (p.Tyr109Asn)
c.760T>A (p.Tyr254Asn)
8g.71299198C>ACA371467396EYA1c.675G>T (p.Gln225His)
c.573G>T (p.Gln191His)
c.660G>T (p.Gln220His)
c.593G>T (p.Ser198Ile)
n.1138G>T
c.*442G>T (n.*442G>T)
c.762G>T (p.Gln254His)
c.747G>T (p.Gln249His)
c.744G>T (p.Gln248His)
c.657G>T (p.Gln219His)
c.576G>T (p.Gln192His)
c.672G>T (p.Gln224His)
n.1170G>T
c.309G>T (p.Gln103His)
c.612G>T (p.Gln204His)
c.324G>T (p.Gln108His)
c.759G>T (p.Gln253His)
8g.71299198C>GCA371467397EYA1c.675G>C (p.Gln225His)
c.573G>C (p.Gln191His)
c.660G>C (p.Gln220His)
c.593G>C (p.Ser198Thr)
n.1138G>C
c.*442G>C (n.*442G>C)
c.762G>C (p.Gln254His)
c.747G>C (p.Gln249His)
c.744G>C (p.Gln248His)
c.657G>C (p.Gln219His)
c.576G>C (p.Gln192His)
c.672G>C (p.Gln224His)
n.1170G>C
c.309G>C (p.Gln103His)
c.612G>C (p.Gln204His)
c.324G>C (p.Gln108His)
c.759G>C (p.Gln253His)
 gnomAD v4
8g.71299198C>TCA461327904EYA1c.675G>A (p.Gln225=)
c.573G>A (p.Gln191=)
c.660G>A (p.Gln220=)
c.593G>A (p.Ser198Asn)
n.1138G>A
c.*442G>A (n.*442G>A)
c.762G>A (p.Gln254=)
c.747G>A (p.Gln249=)
c.744G>A (p.Gln248=)
c.657G>A (p.Gln219=)
c.576G>A (p.Gln192=)
c.672G>A (p.Gln224=)
n.1170G>A
c.309G>A (p.Gln103=)
c.612G>A (p.Gln204=)
c.324G>A (p.Gln108=)
c.759G>A (p.Gln253=)
8g.71299199T>ACA371467398EYA1c.674A>T (p.Gln225Leu)
c.572A>T (p.Gln191Leu)
c.659A>T (p.Gln220Leu)
c.592A>T (p.Ser198Cys)
n.1137A>T
c.*441A>T (n.*441A>T)
c.761A>T (p.Gln254Leu)
c.746A>T (p.Gln249Leu)
c.743A>T (p.Gln248Leu)
c.656A>T (p.Gln219Leu)
c.575A>T (p.Gln192Leu)
c.671A>T (p.Gln224Leu)
n.1169A>T
c.308A>T (p.Gln103Leu)
c.611A>T (p.Gln204Leu)
c.323A>T (p.Gln108Leu)
c.758A>T (p.Gln253Leu)
8g.71299199T>CCA371467399EYA1c.674A>G (p.Gln225Arg)
c.572A>G (p.Gln191Arg)
c.659A>G (p.Gln220Arg)
c.592A>G (p.Ser198Gly)
n.1137A>G
c.*441A>G (n.*441A>G)
c.761A>G (p.Gln254Arg)
c.746A>G (p.Gln249Arg)
c.743A>G (p.Gln248Arg)
c.656A>G (p.Gln219Arg)
c.575A>G (p.Gln192Arg)
c.671A>G (p.Gln224Arg)
n.1169A>G
c.308A>G (p.Gln103Arg)
c.611A>G (p.Gln204Arg)
c.323A>G (p.Gln108Arg)
c.758A>G (p.Gln253Arg)
8g.71299199T>GCA371467400EYA1c.674A>C (p.Gln225Pro)
c.572A>C (p.Gln191Pro)
c.659A>C (p.Gln220Pro)
c.592A>C (p.Ser198Arg)
n.1137A>C
c.*441A>C (n.*441A>C)
c.761A>C (p.Gln254Pro)
c.746A>C (p.Gln249Pro)
c.743A>C (p.Gln248Pro)
c.656A>C (p.Gln219Pro)
c.575A>C (p.Gln192Pro)
c.671A>C (p.Gln224Pro)
n.1169A>C
c.308A>C (p.Gln103Pro)
c.611A>C (p.Gln204Pro)
c.323A>C (p.Gln108Pro)
c.758A>C (p.Gln253Pro)
8g.71299200G>ACA371467403EYA1c.673C>T (p.Gln225Ter)
c.571C>T (p.Gln191Ter)
c.658C>T (p.Gln220Ter)
c.591C>T (p.Val197=)
n.1136C>T
c.*440C>T (n.*440C>T)
c.760C>T (p.Gln254Ter)
c.745C>T (p.Gln249Ter)
c.742C>T (p.Gln248Ter)
c.655C>T (p.Gln219Ter)
c.574C>T (p.Gln192Ter)
c.670C>T (p.Gln224Ter)
n.1168C>T
c.307C>T (p.Gln103Ter)
c.610C>T (p.Gln204Ter)
c.322C>T (p.Gln108Ter)
c.757C>T (p.Gln253Ter)
8g.71299200G>CCA371467402EYA1c.673C>G (p.Gln225Glu)
c.571C>G (p.Gln191Glu)
c.658C>G (p.Gln220Glu)
c.591C>G (p.Val197=)
n.1136C>G
c.*440C>G (n.*440C>G)
c.760C>G (p.Gln254Glu)
c.745C>G (p.Gln249Glu)
c.742C>G (p.Gln248Glu)
c.655C>G (p.Gln219Glu)
c.574C>G (p.Gln192Glu)
c.670C>G (p.Gln224Glu)
n.1168C>G
c.307C>G (p.Gln103Glu)
c.610C>G (p.Gln204Glu)
c.322C>G (p.Gln108Glu)
c.757C>G (p.Gln253Glu)
 COSMIC COSMIC
8g.71299200G>TCA371467401EYA1c.673C>A (p.Gln225Lys)
c.571C>A (p.Gln191Lys)
c.658C>A (p.Gln220Lys)
c.591C>A (p.Val197=)
n.1136C>A
c.*440C>A (n.*440C>A)
c.760C>A (p.Gln254Lys)
c.745C>A (p.Gln249Lys)
c.742C>A (p.Gln248Lys)
c.655C>A (p.Gln219Lys)
c.574C>A (p.Gln192Lys)
c.670C>A (p.Gln224Lys)
n.1168C>A
c.307C>A (p.Gln103Lys)
c.610C>A (p.Gln204Lys)
c.322C>A (p.Gln108Lys)
c.757C>A (p.Gln253Lys)
8g.71299201A>CCA461327906EYA1c.672T>G (p.Gly224=)
c.570T>G (p.Gly190=)
c.657T>G (p.Gly219=)
c.590T>G (p.Val197Gly)
n.1135T>G
c.*439T>G (n.*439T>G)
c.759T>G (p.Gly253=)
c.744T>G (p.Gly248=)
c.741T>G (p.Gly247=)
c.654T>G (p.Gly218=)
c.573T>G (p.Gly191=)
c.669T>G (p.Gly223=)
n.1167T>G
c.306T>G (p.Gly102=)
c.609T>G (p.Gly203=)
c.321T>G (p.Gly107=)
c.756T>G (p.Gly252=)
8g.71299201A>GCA461327907EYA1c.672T>C (p.Gly224=)
c.570T>C (p.Gly190=)
c.657T>C (p.Gly219=)
c.590T>C (p.Val197Ala)
n.1135T>C
c.*439T>C (n.*439T>C)
c.759T>C (p.Gly253=)
c.744T>C (p.Gly248=)
c.741T>C (p.Gly247=)
c.654T>C (p.Gly218=)
c.573T>C (p.Gly191=)
c.669T>C (p.Gly223=)
n.1167T>C
c.306T>C (p.Gly102=)
c.609T>C (p.Gly203=)
c.321T>C (p.Gly107=)
c.756T>C (p.Gly252=)
8g.71299201A>TCA461327908EYA1c.672T>A (p.Gly224=)
c.570T>A (p.Gly190=)
c.657T>A (p.Gly219=)
c.590T>A (p.Val197Asp)
n.1135T>A
c.*439T>A (n.*439T>A)
c.759T>A (p.Gly253=)
c.744T>A (p.Gly248=)
c.741T>A (p.Gly247=)
c.654T>A (p.Gly218=)
c.573T>A (p.Gly191=)
c.669T>A (p.Gly223=)
n.1167T>A
c.306T>A (p.Gly102=)
c.609T>A (p.Gly203=)
c.321T>A (p.Gly107=)
c.756T>A (p.Gly252=)
8g.71299202C>ACA4779689EYA1c.671G>T (p.Gly224Val)
c.569G>T (p.Gly190Val)
c.656G>T (p.Gly219Val)
c.589G>T (p.Val197Phe)
n.1134G>T
c.*438G>T (n.*438G>T)
c.758G>T (p.Gly253Val)
c.743G>T (p.Gly248Val)
c.740G>T (p.Gly247Val)
c.653G>T (p.Gly218Val)
c.572G>T (p.Gly191Val)
c.668G>T (p.Gly223Val)
n.1166G>T
c.305G>T (p.Gly102Val)
c.608G>T (p.Gly203Val)
c.320G>T (p.Gly107Val)
c.755G>T (p.Gly252Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299202C=CA1792728375EYA1c.671G= (p.Gly224=)
c.569G= (p.Gly190=)
c.656G= (p.Gly219=)
c.589G= (p.Val197=)
n.1134G=
c.*438G= (n.*438G=)
c.758G= (p.Gly253=)
c.743G= (p.Gly248=)
c.740G= (p.Gly247=)
c.653G= (p.Gly218=)
c.572G= (p.Gly191=)
c.668G= (p.Gly223=)
n.1166G=
c.305G= (p.Gly102=)
c.608G= (p.Gly203=)
c.320G= (p.Gly107=)
c.755G= (p.Gly252=)
8g.71299202C>GCA371467404EYA1c.671G>C (p.Gly224Ala)
c.569G>C (p.Gly190Ala)
c.656G>C (p.Gly219Ala)
c.589G>C (p.Val197Leu)
n.1134G>C
c.*438G>C (n.*438G>C)
c.758G>C (p.Gly253Ala)
c.743G>C (p.Gly248Ala)
c.740G>C (p.Gly247Ala)
c.653G>C (p.Gly218Ala)
c.572G>C (p.Gly191Ala)
c.668G>C (p.Gly223Ala)
n.1166G>C
c.305G>C (p.Gly102Ala)
c.608G>C (p.Gly203Ala)
c.320G>C (p.Gly107Ala)
c.755G>C (p.Gly252Ala)
8g.71299202C>TCA179208684EYA1c.671G>A (p.Gly224Asp)
c.569G>A (p.Gly190Asp)
c.656G>A (p.Gly219Asp)
c.589G>A (p.Val197Ile)
n.1134G>A
c.*438G>A (n.*438G>A)
c.758G>A (p.Gly253Asp)
c.743G>A (p.Gly248Asp)
c.740G>A (p.Gly247Asp)
c.653G>A (p.Gly218Asp)
c.572G>A (p.Gly191Asp)
c.668G>A (p.Gly223Asp)
n.1166G>A
c.305G>A (p.Gly102Asp)
c.608G>A (p.Gly203Asp)
c.320G>A (p.Gly107Asp)
c.755G>A (p.Gly252Asp)
 dbSNP
8g.71299203C>ACA371467405EYA1c.670G>T (p.Gly224Cys)
c.568G>T (p.Gly190Cys)
c.655G>T (p.Gly219Cys)
c.588G>T (p.Arg196Ser)
n.1133G>T
c.*437G>T (n.*437G>T)
c.757G>T (p.Gly253Cys)
c.742G>T (p.Gly248Cys)
c.739G>T (p.Gly247Cys)
c.652G>T (p.Gly218Cys)
c.571G>T (p.Gly191Cys)
c.667G>T (p.Gly223Cys)
n.1165G>T
c.304G>T (p.Gly102Cys)
c.607G>T (p.Gly203Cys)
c.319G>T (p.Gly107Cys)
c.754G>T (p.Gly252Cys)
8g.71299203C>GCA371467406EYA1c.670G>C (p.Gly224Arg)
c.568G>C (p.Gly190Arg)
c.655G>C (p.Gly219Arg)
c.588G>C (p.Arg196Ser)
n.1133G>C
c.*437G>C (n.*437G>C)
c.757G>C (p.Gly253Arg)
c.742G>C (p.Gly248Arg)
c.739G>C (p.Gly247Arg)
c.652G>C (p.Gly218Arg)
c.571G>C (p.Gly191Arg)
c.667G>C (p.Gly223Arg)
n.1165G>C
c.304G>C (p.Gly102Arg)
c.607G>C (p.Gly203Arg)
c.319G>C (p.Gly107Arg)
c.754G>C (p.Gly252Arg)
8g.71299203C>TCA371467407EYA1c.670G>A (p.Gly224Ser)
c.568G>A (p.Gly190Ser)
c.655G>A (p.Gly219Ser)
c.588G>A (p.Arg196=)
n.1133G>A
c.*437G>A (n.*437G>A)
c.757G>A (p.Gly253Ser)
c.742G>A (p.Gly248Ser)
c.739G>A (p.Gly247Ser)
c.652G>A (p.Gly218Ser)
c.571G>A (p.Gly191Ser)
c.667G>A (p.Gly223Ser)
n.1165G>A
c.304G>A (p.Gly102Ser)
c.607G>A (p.Gly203Ser)
c.319G>A (p.Gly107Ser)
c.754G>A (p.Gly252Ser)
8g.71299204C>ACA371467408EYA1c.669G>T (p.Gln223His)
c.567G>T (p.Gln189His)
c.654G>T (p.Gln218His)
c.587G>T (p.Arg196Met)
n.1132G>T
c.*436G>T (n.*436G>T)
c.756G>T (p.Gln252His)
c.741G>T (p.Gln247His)
c.738G>T (p.Gln246His)
c.651G>T (p.Gln217His)
c.570G>T (p.Gln190His)
c.666G>T (p.Gln222His)
n.1164G>T
c.303G>T (p.Gln101His)
c.606G>T (p.Gln202His)
c.318G>T (p.Gln106His)
c.753G>T (p.Gln251His)
8g.71299204C>GCA371467409EYA1c.669G>C (p.Gln223His)
c.567G>C (p.Gln189His)
c.654G>C (p.Gln218His)
c.587G>C (p.Arg196Thr)
n.1132G>C
c.*436G>C (n.*436G>C)
c.756G>C (p.Gln252His)
c.741G>C (p.Gln247His)
c.738G>C (p.Gln246His)
c.651G>C (p.Gln217His)
c.570G>C (p.Gln190His)
c.666G>C (p.Gln222His)
n.1164G>C
c.303G>C (p.Gln101His)
c.606G>C (p.Gln202His)
c.318G>C (p.Gln106His)
c.753G>C (p.Gln251His)
8g.71299204C>TCA461327910EYA1c.669G>A (p.Gln223=)
c.567G>A (p.Gln189=)
c.654G>A (p.Gln218=)
c.587G>A (p.Arg196Lys)
n.1132G>A
c.*436G>A (n.*436G>A)
c.756G>A (p.Gln252=)
c.741G>A (p.Gln247=)
c.738G>A (p.Gln246=)
c.651G>A (p.Gln217=)
c.570G>A (p.Gln190=)
c.666G>A (p.Gln222=)
n.1164G>A
c.303G>A (p.Gln101=)
c.606G>A (p.Gln202=)
c.318G>A (p.Gln106=)
c.753G>A (p.Gln251=)
 gnomAD v4
8g.71299205T>ACA371467410EYA1c.668A>T (p.Gln223Leu)
c.566A>T (p.Gln189Leu)
c.653A>T (p.Gln218Leu)
c.586A>T (p.Arg196Trp)
n.1131A>T
c.*435A>T (n.*435A>T)
c.755A>T (p.Gln252Leu)
c.740A>T (p.Gln247Leu)
c.737A>T (p.Gln246Leu)
c.650A>T (p.Gln217Leu)
c.569A>T (p.Gln190Leu)
c.665A>T (p.Gln222Leu)
n.1163A>T
c.302A>T (p.Gln101Leu)
c.605A>T (p.Gln202Leu)
c.317A>T (p.Gln106Leu)
c.752A>T (p.Gln251Leu)
8g.71299205T>CCA371467411EYA1c.668A>G (p.Gln223Arg)
c.566A>G (p.Gln189Arg)
c.653A>G (p.Gln218Arg)
c.586A>G (p.Arg196Gly)
n.1131A>G
c.*435A>G (n.*435A>G)
c.755A>G (p.Gln252Arg)
c.740A>G (p.Gln247Arg)
c.737A>G (p.Gln246Arg)
c.650A>G (p.Gln217Arg)
c.569A>G (p.Gln190Arg)
c.665A>G (p.Gln222Arg)
n.1163A>G
c.302A>G (p.Gln101Arg)
c.605A>G (p.Gln202Arg)
c.317A>G (p.Gln106Arg)
c.752A>G (p.Gln251Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.71299205T>GCA371467412EYA1c.668A>C (p.Gln223Pro)
c.566A>C (p.Gln189Pro)
c.653A>C (p.Gln218Pro)
c.586A>C (p.Arg196=)
n.1131A>C
c.*435A>C (n.*435A>C)
c.755A>C (p.Gln252Pro)
c.740A>C (p.Gln247Pro)
c.737A>C (p.Gln246Pro)
c.650A>C (p.Gln217Pro)
c.569A>C (p.Gln190Pro)
c.665A>C (p.Gln222Pro)
n.1163A>C
c.302A>C (p.Gln101Pro)
c.605A>C (p.Gln202Pro)
c.317A>C (p.Gln106Pro)
c.752A>C (p.Gln251Pro)
8g.71299205T=CA1792728376EYA1c.668A= (p.Gln223=)
c.566A= (p.Gln189=)
c.653A= (p.Gln218=)
c.586A= (p.Arg196=)
n.1131A=
c.*435A= (n.*435A=)
c.755A= (p.Gln252=)
c.740A= (p.Gln247=)
c.737A= (p.Gln246=)
c.650A= (p.Gln217=)
c.569A= (p.Gln190=)
c.665A= (p.Gln222=)
n.1163A=
c.302A= (p.Gln101=)
c.605A= (p.Gln202=)
c.317A= (p.Gln106=)
c.752A= (p.Gln251=)
8g.71299206G>ACA371467415EYA1c.667C>T (p.Gln223Ter)
c.565C>T (p.Gln189Ter)
c.652C>T (p.Gln218Ter)
c.585C>T (p.Ala195=)
n.1130C>T
c.*434C>T (n.*434C>T)
c.754C>T (p.Gln252Ter)
c.739C>T (p.Gln247Ter)
c.736C>T (p.Gln246Ter)
c.649C>T (p.Gln217Ter)
c.568C>T (p.Gln190Ter)
c.664C>T (p.Gln222Ter)
n.1162C>T
c.301C>T (p.Gln101Ter)
c.604C>T (p.Gln202Ter)
c.316C>T (p.Gln106Ter)
c.751C>T (p.Gln251Ter)
8g.71299206G>CCA371467414EYA1c.667C>G (p.Gln223Glu)
c.565C>G (p.Gln189Glu)
c.652C>G (p.Gln218Glu)
c.585C>G (p.Ala195=)
n.1130C>G
c.*434C>G (n.*434C>G)
c.754C>G (p.Gln252Glu)
c.739C>G (p.Gln247Glu)
c.736C>G (p.Gln246Glu)
c.649C>G (p.Gln217Glu)
c.568C>G (p.Gln190Glu)
c.664C>G (p.Gln222Glu)
n.1162C>G
c.301C>G (p.Gln101Glu)
c.604C>G (p.Gln202Glu)
c.316C>G (p.Gln106Glu)
c.751C>G (p.Gln251Glu)
8g.71299206G>TCA371467413EYA1c.667C>A (p.Gln223Lys)
c.565C>A (p.Gln189Lys)
c.652C>A (p.Gln218Lys)
c.585C>A (p.Ala195=)
n.1130C>A
c.*434C>A (n.*434C>A)
c.754C>A (p.Gln252Lys)
c.739C>A (p.Gln247Lys)
c.736C>A (p.Gln246Lys)
c.649C>A (p.Gln217Lys)
c.568C>A (p.Gln190Lys)
c.664C>A (p.Gln222Lys)
n.1162C>A
c.301C>A (p.Gln101Lys)
c.604C>A (p.Gln202Lys)
c.316C>A (p.Gln106Lys)
c.751C>A (p.Gln251Lys)
8g.71299207G>ACA461327911EYA1c.666C>T (p.Gly222=)
c.564C>T (p.Gly188=)
c.651C>T (p.Gly217=)
c.584C>T (p.Ala195Val)
n.1129C>T
c.*433C>T (n.*433C>T)
c.753C>T (p.Gly251=)
c.738C>T (p.Gly246=)
c.735C>T (p.Gly245=)
c.648C>T (p.Gly216=)
c.567C>T (p.Gly189=)
c.663C>T (p.Gly221=)
n.1161C>T
c.300C>T (p.Gly100=)
c.603C>T (p.Gly201=)
c.315C>T (p.Gly105=)
c.750C>T (p.Gly250=)
8g.71299207G>CCA461327913EYA1c.666C>G (p.Gly222=)
c.564C>G (p.Gly188=)
c.651C>G (p.Gly217=)
c.584C>G (p.Ala195Gly)
n.1129C>G
c.*433C>G (n.*433C>G)
c.753C>G (p.Gly251=)
c.738C>G (p.Gly246=)
c.735C>G (p.Gly245=)
c.648C>G (p.Gly216=)
c.567C>G (p.Gly189=)
c.663C>G (p.Gly221=)
n.1161C>G
c.300C>G (p.Gly100=)
c.603C>G (p.Gly201=)
c.315C>G (p.Gly105=)
c.750C>G (p.Gly250=)
8g.71299207G>TCA461327914EYA1c.666C>A (p.Gly222=)
c.564C>A (p.Gly188=)
c.651C>A (p.Gly217=)
c.584C>A (p.Ala195Asp)
n.1129C>A
c.*433C>A (n.*433C>A)
c.753C>A (p.Gly251=)
c.738C>A (p.Gly246=)
c.735C>A (p.Gly245=)
c.648C>A (p.Gly216=)
c.567C>A (p.Gly189=)
c.663C>A (p.Gly221=)
n.1161C>A
c.300C>A (p.Gly100=)
c.603C>A (p.Gly201=)
c.315C>A (p.Gly105=)
c.750C>A (p.Gly250=)
8g.71299208C>ACA371467416EYA1c.665G>T (p.Gly222Val)
c.563G>T (p.Gly188Val)
c.650G>T (p.Gly217Val)
c.583G>T (p.Ala195Ser)
n.1128G>T
c.*432G>T (n.*432G>T)
c.752G>T (p.Gly251Val)
c.737G>T (p.Gly246Val)
c.734G>T (p.Gly245Val)
c.647G>T (p.Gly216Val)
c.566G>T (p.Gly189Val)
c.662G>T (p.Gly221Val)
n.1160G>T
c.299G>T (p.Gly100Val)
c.602G>T (p.Gly201Val)
c.314G>T (p.Gly105Val)
c.749G>T (p.Gly250Val)
 gnomAD v4
8g.71299208C>GCA371467417EYA1c.665G>C (p.Gly222Ala)
c.563G>C (p.Gly188Ala)
c.650G>C (p.Gly217Ala)
c.583G>C (p.Ala195Pro)
n.1128G>C
c.*432G>C (n.*432G>C)
c.752G>C (p.Gly251Ala)
c.737G>C (p.Gly246Ala)
c.734G>C (p.Gly245Ala)
c.647G>C (p.Gly216Ala)
c.566G>C (p.Gly189Ala)
c.662G>C (p.Gly221Ala)
n.1160G>C
c.299G>C (p.Gly100Ala)
c.602G>C (p.Gly201Ala)
c.314G>C (p.Gly105Ala)
c.749G>C (p.Gly250Ala)
8g.71299208C>TCA371467418EYA1c.665G>A (p.Gly222Asp)
c.563G>A (p.Gly188Asp)
c.650G>A (p.Gly217Asp)
c.583G>A (p.Ala195Thr)
n.1128G>A
c.*432G>A (n.*432G>A)
c.752G>A (p.Gly251Asp)
c.737G>A (p.Gly246Asp)
c.734G>A (p.Gly245Asp)
c.647G>A (p.Gly216Asp)
c.566G>A (p.Gly189Asp)
c.662G>A (p.Gly221Asp)
n.1160G>A
c.299G>A (p.Gly100Asp)
c.602G>A (p.Gly201Asp)
c.314G>A (p.Gly105Asp)
c.749G>A (p.Gly250Asp)
8g.71299209C>ACA371467419EYA1c.664G>T (p.Gly222Cys)
c.562G>T (p.Gly188Cys)
c.649G>T (p.Gly217Cys)
c.582G>T (p.Leu194Phe)
n.1127G>T
c.*431G>T (n.*431G>T)
c.751G>T (p.Gly251Cys)
c.736G>T (p.Gly246Cys)
c.733G>T (p.Gly245Cys)
c.646G>T (p.Gly216Cys)
c.565G>T (p.Gly189Cys)
c.661G>T (p.Gly221Cys)
n.1159G>T
c.298G>T (p.Gly100Cys)
c.601G>T (p.Gly201Cys)
c.313G>T (p.Gly105Cys)
c.748G>T (p.Gly250Cys)
 ClinVar
8g.71299209C>GCA371467420EYA1c.664G>C (p.Gly222Arg)
c.562G>C (p.Gly188Arg)
c.649G>C (p.Gly217Arg)
c.582G>C (p.Leu194Phe)
n.1127G>C
c.*431G>C (n.*431G>C)
c.751G>C (p.Gly251Arg)
c.736G>C (p.Gly246Arg)
c.733G>C (p.Gly245Arg)
c.646G>C (p.Gly216Arg)
c.565G>C (p.Gly189Arg)
c.661G>C (p.Gly221Arg)
n.1159G>C
c.298G>C (p.Gly100Arg)
c.601G>C (p.Gly201Arg)
c.313G>C (p.Gly105Arg)
c.748G>C (p.Gly250Arg)
8g.71299209C>TCA371467421EYA1c.664G>A (p.Gly222Ser)
c.562G>A (p.Gly188Ser)
c.649G>A (p.Gly217Ser)
c.582G>A (p.Leu194=)
n.1127G>A
c.*431G>A (n.*431G>A)
c.751G>A (p.Gly251Ser)
c.736G>A (p.Gly246Ser)
c.733G>A (p.Gly245Ser)
c.646G>A (p.Gly216Ser)
c.565G>A (p.Gly189Ser)
c.661G>A (p.Gly221Ser)
n.1159G>A
c.298G>A (p.Gly100Ser)
c.601G>A (p.Gly201Ser)
c.313G>A (p.Gly105Ser)
c.748G>A (p.Gly250Ser)
 COSMIC COSMIC
8g.71299210A>CCA371467422EYA1c.663T>G (p.Phe221Leu)
c.561T>G (p.Phe187Leu)
c.648T>G (p.Phe216Leu)
c.581T>G (p.Leu194Trp)
n.1126T>G
c.*430T>G (n.*430T>G)
c.750T>G (p.Phe250Leu)
c.735T>G (p.Phe245Leu)
c.732T>G (p.Phe244Leu)
c.645T>G (p.Phe215Leu)
c.564T>G (p.Phe188Leu)
c.660T>G (p.Phe220Leu)
n.1158T>G
c.297T>G (p.Phe99Leu)
c.600T>G (p.Phe200Leu)
c.312T>G (p.Phe104Leu)
c.747T>G (p.Phe249Leu)
8g.71299210A>GCA461327915EYA1c.663T>C (p.Phe221=)
c.561T>C (p.Phe187=)
c.648T>C (p.Phe216=)
c.581T>C (p.Leu194Ser)
n.1126T>C
c.*430T>C (n.*430T>C)
c.750T>C (p.Phe250=)
c.735T>C (p.Phe245=)
c.732T>C (p.Phe244=)
c.645T>C (p.Phe215=)
c.564T>C (p.Phe188=)
c.660T>C (p.Phe220=)
n.1158T>C
c.297T>C (p.Phe99=)
c.600T>C (p.Phe200=)
c.312T>C (p.Phe104=)
c.747T>C (p.Phe249=)
8g.71299210A>TCA371467423EYA1c.663T>A (p.Phe221Leu)
c.561T>A (p.Phe187Leu)
c.648T>A (p.Phe216Leu)
c.581T>A (p.Leu194Ter)
n.1126T>A
c.*430T>A (n.*430T>A)
c.750T>A (p.Phe250Leu)
c.735T>A (p.Phe245Leu)
c.732T>A (p.Phe244Leu)
c.645T>A (p.Phe215Leu)
c.564T>A (p.Phe188Leu)
c.660T>A (p.Phe220Leu)
n.1158T>A
c.297T>A (p.Phe99Leu)
c.600T>A (p.Phe200Leu)
c.312T>A (p.Phe104Leu)
c.747T>A (p.Phe249Leu)
8g.71299211A>CCA371467424EYA1c.662T>G (p.Phe221Cys)
c.560T>G (p.Phe187Cys)
c.647T>G (p.Phe216Cys)
c.580T>G (p.Leu194Val)
n.1125T>G
c.*429T>G (n.*429T>G)
c.749T>G (p.Phe250Cys)
c.734T>G (p.Phe245Cys)
c.731T>G (p.Phe244Cys)
c.644T>G (p.Phe215Cys)
c.563T>G (p.Phe188Cys)
c.659T>G (p.Phe220Cys)
n.1157T>G
c.296T>G (p.Phe99Cys)
c.599T>G (p.Phe200Cys)
c.311T>G (p.Phe104Cys)
c.746T>G (p.Phe249Cys)
8g.71299211A>GCA371467425EYA1c.662T>C (p.Phe221Ser)
c.560T>C (p.Phe187Ser)
c.647T>C (p.Phe216Ser)
c.580T>C (p.Leu194=)
n.1125T>C
c.*429T>C (n.*429T>C)
c.749T>C (p.Phe250Ser)
c.734T>C (p.Phe245Ser)
c.731T>C (p.Phe244Ser)
c.644T>C (p.Phe215Ser)
c.563T>C (p.Phe188Ser)
c.659T>C (p.Phe220Ser)
n.1157T>C
c.296T>C (p.Phe99Ser)
c.599T>C (p.Phe200Ser)
c.311T>C (p.Phe104Ser)
c.746T>C (p.Phe249Ser)
8g.71299211A>TCA371467426EYA1c.662T>A (p.Phe221Tyr)
c.560T>A (p.Phe187Tyr)
c.647T>A (p.Phe216Tyr)
c.580T>A (p.Leu194Met)
n.1125T>A
c.*429T>A (n.*429T>A)
c.749T>A (p.Phe250Tyr)
c.734T>A (p.Phe245Tyr)
c.731T>A (p.Phe244Tyr)
c.644T>A (p.Phe215Tyr)
c.563T>A (p.Phe188Tyr)
c.659T>A (p.Phe220Tyr)
n.1157T>A
c.296T>A (p.Phe99Tyr)
c.599T>A (p.Phe200Tyr)
c.311T>A (p.Phe104Tyr)
c.746T>A (p.Phe249Tyr)
8g.71299212A>CCA371467429EYA1c.661T>G (p.Phe221Val)
c.559T>G (p.Phe187Val)
c.646T>G (p.Phe216Val)
c.579T>G (p.Val193=)
n.1124T>G
c.*428T>G (n.*428T>G)
c.748T>G (p.Phe250Val)
c.733T>G (p.Phe245Val)
c.730T>G (p.Phe244Val)
c.643T>G (p.Phe215Val)
c.562T>G (p.Phe188Val)
c.658T>G (p.Phe220Val)
n.1156T>G
c.295T>G (p.Phe99Val)
c.598T>G (p.Phe200Val)
c.310T>G (p.Phe104Val)
c.745T>G (p.Phe249Val)
 gnomAD v4
8g.71299212A>GCA371467428EYA1c.661T>C (p.Phe221Leu)
c.559T>C (p.Phe187Leu)
c.646T>C (p.Phe216Leu)
c.579T>C (p.Val193=)
n.1124T>C
c.*428T>C (n.*428T>C)
c.748T>C (p.Phe250Leu)
c.733T>C (p.Phe245Leu)
c.730T>C (p.Phe244Leu)
c.643T>C (p.Phe215Leu)
c.562T>C (p.Phe188Leu)
c.658T>C (p.Phe220Leu)
n.1156T>C
c.295T>C (p.Phe99Leu)
c.598T>C (p.Phe200Leu)
c.310T>C (p.Phe104Leu)
c.745T>C (p.Phe249Leu)
8g.71299212A>TCA371467427EYA1c.661T>A (p.Phe221Ile)
c.559T>A (p.Phe187Ile)
c.646T>A (p.Phe216Ile)
c.579T>A (p.Val193=)
n.1124T>A
c.*428T>A (n.*428T>A)
c.748T>A (p.Phe250Ile)
c.733T>A (p.Phe245Ile)
c.730T>A (p.Phe244Ile)
c.643T>A (p.Phe215Ile)
c.562T>A (p.Phe188Ile)
c.658T>A (p.Phe220Ile)
n.1156T>A
c.295T>A (p.Phe99Ile)
c.598T>A (p.Phe200Ile)
c.310T>A (p.Phe104Ile)
c.745T>A (p.Phe249Ile)
8g.71299213A=CA1792728377EYA1c.660T= (p.Ser220=)
c.558T= (p.Ser186=)
c.645T= (p.Ser215=)
c.578T= (p.Val193=)
n.1123T=
c.*427T= (n.*427T=)
c.747T= (p.Ser249=)
c.732T= (p.Ser244=)
c.729T= (p.Ser243=)
c.642T= (p.Ser214=)
c.561T= (p.Ser187=)
c.657T= (p.Ser219=)
n.1155T=
c.294T= (p.Ser98=)
c.597T= (p.Ser199=)
c.309T= (p.Ser103=)
c.744T= (p.Ser248=)
8g.71299213A>CCA371467431EYA1c.660T>G (p.Ser220Arg)
c.558T>G (p.Ser186Arg)
c.645T>G (p.Ser215Arg)
c.578T>G (p.Val193Gly)
n.1123T>G
c.*427T>G (n.*427T>G)
c.747T>G (p.Ser249Arg)
c.732T>G (p.Ser244Arg)
c.729T>G (p.Ser243Arg)
c.642T>G (p.Ser214Arg)
c.561T>G (p.Ser187Arg)
c.657T>G (p.Ser219Arg)
n.1155T>G
c.294T>G (p.Ser98Arg)
c.597T>G (p.Ser199Arg)
c.309T>G (p.Ser103Arg)
c.744T>G (p.Ser248Arg)
8g.71299213A>GCA461327918EYA1c.660T>C (p.Ser220=)
c.558T>C (p.Ser186=)
c.645T>C (p.Ser215=)
c.578T>C (p.Val193Ala)
n.1123T>C
c.*427T>C (n.*427T>C)
c.747T>C (p.Ser249=)
c.732T>C (p.Ser244=)
c.729T>C (p.Ser243=)
c.642T>C (p.Ser214=)
c.561T>C (p.Ser187=)
c.657T>C (p.Ser219=)
n.1155T>C
c.294T>C (p.Ser98=)
c.597T>C (p.Ser199=)
c.309T>C (p.Ser103=)
c.744T>C (p.Ser248=)
 dbSNP
8g.71299213A>TCA371467432EYA1c.660T>A (p.Ser220Arg)
c.558T>A (p.Ser186Arg)
c.645T>A (p.Ser215Arg)
c.578T>A (p.Val193Asp)
n.1123T>A
c.*427T>A (n.*427T>A)
c.747T>A (p.Ser249Arg)
c.732T>A (p.Ser244Arg)
c.729T>A (p.Ser243Arg)
c.642T>A (p.Ser214Arg)
c.561T>A (p.Ser187Arg)
c.657T>A (p.Ser219Arg)
n.1155T>A
c.294T>A (p.Ser98Arg)
c.597T>A (p.Ser199Arg)
c.309T>A (p.Ser103Arg)
c.744T>A (p.Ser248Arg)
8g.71299214C>ACA371467433EYA1c.659G>T (p.Ser220Ile)
c.557G>T (p.Ser186Ile)
c.644G>T (p.Ser215Ile)
c.577G>T (p.Val193Phe)
n.1122G>T
c.*426G>T (n.*426G>T)
c.746G>T (p.Ser249Ile)
c.731G>T (p.Ser244Ile)
c.728G>T (p.Ser243Ile)
c.641G>T (p.Ser214Ile)
c.560G>T (p.Ser187Ile)
c.656G>T (p.Ser219Ile)
n.1154G>T
c.293G>T (p.Ser98Ile)
c.596G>T (p.Ser199Ile)
c.308G>T (p.Ser103Ile)
c.743G>T (p.Ser248Ile)
8g.71299214C>GCA371467434EYA1c.659G>C (p.Ser220Thr)
c.557G>C (p.Ser186Thr)
c.644G>C (p.Ser215Thr)
c.577G>C (p.Val193Leu)
n.1122G>C
c.*426G>C (n.*426G>C)
c.746G>C (p.Ser249Thr)
c.731G>C (p.Ser244Thr)
c.728G>C (p.Ser243Thr)
c.641G>C (p.Ser214Thr)
c.560G>C (p.Ser187Thr)
c.656G>C (p.Ser219Thr)
n.1154G>C
c.293G>C (p.Ser98Thr)
c.596G>C (p.Ser199Thr)
c.308G>C (p.Ser103Thr)
c.743G>C (p.Ser248Thr)
8g.71299214C>TCA371467435EYA1c.659G>A (p.Ser220Asn)
c.557G>A (p.Ser186Asn)
c.644G>A (p.Ser215Asn)
c.577G>A (p.Val193Ile)
n.1122G>A
c.*426G>A (n.*426G>A)
c.746G>A (p.Ser249Asn)
c.731G>A (p.Ser244Asn)
c.728G>A (p.Ser243Asn)
c.641G>A (p.Ser214Asn)
c.560G>A (p.Ser187Asn)
c.656G>A (p.Ser219Asn)
n.1154G>A
c.293G>A (p.Ser98Asn)
c.596G>A (p.Ser199Asn)
c.308G>A (p.Ser103Asn)
c.743G>A (p.Ser248Asn)
8g.71299215T>ACA371467436EYA1c.658A>T (p.Ser220Cys)
c.556A>T (p.Ser186Cys)
c.643A>T (p.Ser215Cys)
c.576A>T (p.Pro192=)
n.1121A>T
c.*425A>T (n.*425A>T)
c.745A>T (p.Ser249Cys)
c.730A>T (p.Ser244Cys)
c.727A>T (p.Ser243Cys)
c.640A>T (p.Ser214Cys)
c.559A>T (p.Ser187Cys)
c.655A>T (p.Ser219Cys)
n.1153A>T
c.292A>T (p.Ser98Cys)
c.595A>T (p.Ser199Cys)
c.307A>T (p.Ser103Cys)
c.742A>T (p.Ser248Cys)
8g.71299215T>CCA371467437EYA1c.658A>G (p.Ser220Gly)
c.556A>G (p.Ser186Gly)
c.643A>G (p.Ser215Gly)
c.576A>G (p.Pro192=)
n.1121A>G
c.*425A>G (n.*425A>G)
c.745A>G (p.Ser249Gly)
c.730A>G (p.Ser244Gly)
c.727A>G (p.Ser243Gly)
c.640A>G (p.Ser214Gly)
c.559A>G (p.Ser187Gly)
c.655A>G (p.Ser219Gly)
n.1153A>G
c.292A>G (p.Ser98Gly)
c.595A>G (p.Ser199Gly)
c.307A>G (p.Ser103Gly)
c.742A>G (p.Ser248Gly)
8g.71299215T>GCA371467438EYA1c.658A>C (p.Ser220Arg)
c.556A>C (p.Ser186Arg)
c.643A>C (p.Ser215Arg)
c.576A>C (p.Pro192=)
n.1121A>C
c.*425A>C (n.*425A>C)
c.745A>C (p.Ser249Arg)
c.730A>C (p.Ser244Arg)
c.727A>C (p.Ser243Arg)
c.640A>C (p.Ser214Arg)
c.559A>C (p.Ser187Arg)
c.655A>C (p.Ser219Arg)
n.1153A>C
c.292A>C (p.Ser98Arg)
c.595A>C (p.Ser199Arg)
c.307A>C (p.Ser103Arg)
c.742A>C (p.Ser248Arg)
8g.71299216G>ACA461327920EYA1c.657C>T (p.Pro219=)
c.555C>T (p.Pro185=)
c.642C>T (p.Pro214=)
c.575C>T (p.Pro192Leu)
n.1120C>T
c.*424C>T (n.*424C>T)
c.744C>T (p.Pro248=)
c.729C>T (p.Pro243=)
c.726C>T (p.Pro242=)
c.639C>T (p.Pro213=)
c.558C>T (p.Pro186=)
c.654C>T (p.Pro218=)
n.1152C>T
c.291C>T (p.Pro97=)
c.594C>T (p.Pro198=)
c.306C>T (p.Pro102=)
c.741C>T (p.Pro247=)
8g.71299216G>CCA461327921EYA1c.657C>G (p.Pro219=)
c.555C>G (p.Pro185=)
c.642C>G (p.Pro214=)
c.575C>G (p.Pro192Arg)
n.1120C>G
c.*424C>G (n.*424C>G)
c.744C>G (p.Pro248=)
c.729C>G (p.Pro243=)
c.726C>G (p.Pro242=)
c.639C>G (p.Pro213=)
c.558C>G (p.Pro186=)
c.654C>G (p.Pro218=)
n.1152C>G
c.291C>G (p.Pro97=)
c.594C>G (p.Pro198=)
c.306C>G (p.Pro102=)
c.741C>G (p.Pro247=)
8g.71299216G=CA1792728378EYA1c.657C= (p.Pro219=)
c.555C= (p.Pro185=)
c.642C= (p.Pro214=)
c.575C= (p.Pro192=)
n.1120C=
c.*424C= (n.*424C=)
c.744C= (p.Pro248=)
c.729C= (p.Pro243=)
c.726C= (p.Pro242=)
c.639C= (p.Pro213=)
c.558C= (p.Pro186=)
c.654C= (p.Pro218=)
n.1152C=
c.291C= (p.Pro97=)
c.594C= (p.Pro198=)
c.306C= (p.Pro102=)
c.741C= (p.Pro247=)
8g.71299216G>TCA4779690EYA1c.657C>A (p.Pro219=)
c.555C>A (p.Pro185=)
c.642C>A (p.Pro214=)
c.575C>A (p.Pro192Gln)
n.1120C>A
c.*424C>A (n.*424C>A)
c.744C>A (p.Pro248=)
c.729C>A (p.Pro243=)
c.726C>A (p.Pro242=)
c.639C>A (p.Pro213=)
c.558C>A (p.Pro186=)
c.654C>A (p.Pro218=)
n.1152C>A
c.291C>A (p.Pro97=)
c.594C>A (p.Pro198=)
c.306C>A (p.Pro102=)
c.741C>A (p.Pro247=)
 dbSNP ExAC
8g.71299217G>ACA4779691EYA1c.656C>T (p.Pro219Leu)
c.554C>T (p.Pro185Leu)
c.641C>T (p.Pro214Leu)
c.574C>T (p.Pro192Ser)
n.1119C>T
c.*423C>T (n.*423C>T)
c.743C>T (p.Pro248Leu)
c.728C>T (p.Pro243Leu)
c.725C>T (p.Pro242Leu)
c.638C>T (p.Pro213Leu)
c.557C>T (p.Pro186Leu)
c.653C>T (p.Pro218Leu)
n.1151C>T
c.290C>T (p.Pro97Leu)
c.593C>T (p.Pro198Leu)
c.305C>T (p.Pro102Leu)
c.740C>T (p.Pro247Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71299217G>CCA371467439EYA1c.656C>G (p.Pro219Arg)
c.554C>G (p.Pro185Arg)
c.641C>G (p.Pro214Arg)
c.574C>G (p.Pro192Ala)
n.1119C>G
c.*423C>G (n.*423C>G)
c.743C>G (p.Pro248Arg)
c.728C>G (p.Pro243Arg)
c.725C>G (p.Pro242Arg)
c.638C>G (p.Pro213Arg)
c.557C>G (p.Pro186Arg)
c.653C>G (p.Pro218Arg)
n.1151C>G
c.290C>G (p.Pro97Arg)
c.593C>G (p.Pro198Arg)
c.305C>G (p.Pro102Arg)
c.740C>G (p.Pro247Arg)
8g.71299217G=CA1792728379EYA1c.656C= (p.Pro219=)
c.554C= (p.Pro185=)
c.641C= (p.Pro214=)
c.574C= (p.Pro192=)
n.1119C=
c.*423C= (n.*423C=)
c.743C= (p.Pro248=)
c.728C= (p.Pro243=)
c.725C= (p.Pro242=)
c.638C= (p.Pro213=)
c.557C= (p.Pro186=)
c.653C= (p.Pro218=)
n.1151C=
c.290C= (p.Pro97=)
c.593C= (p.Pro198=)
c.305C= (p.Pro102=)
c.740C= (p.Pro247=)
8g.71299217G>TCA371467440EYA1c.656C>A (p.Pro219His)
c.554C>A (p.Pro185His)
c.641C>A (p.Pro214His)
c.574C>A (p.Pro192Thr)
n.1119C>A
c.*423C>A (n.*423C>A)
c.743C>A (p.Pro248His)
c.728C>A (p.Pro243His)
c.725C>A (p.Pro242His)
c.638C>A (p.Pro213His)
c.557C>A (p.Pro186His)
c.653C>A (p.Pro218His)
n.1151C>A
c.290C>A (p.Pro97His)
c.593C>A (p.Pro198His)
c.305C>A (p.Pro102His)
c.740C>A (p.Pro247His)
8g.71299218G>ACA371467443EYA1c.655C>T (p.Pro219Ser)
c.553C>T (p.Pro185Ser)
c.640C>T (p.Pro214Ser)
c.573C>T (p.Ile191=)
n.1118C>T
c.*422C>T (n.*422C>T)
c.742C>T (p.Pro248Ser)
c.727C>T (p.Pro243Ser)
c.724C>T (p.Pro242Ser)
c.637C>T (p.Pro213Ser)
c.556C>T (p.Pro186Ser)
c.652C>T (p.Pro218Ser)
n.1150C>T
c.289C>T (p.Pro97Ser)
c.592C>T (p.Pro198Ser)
c.304C>T (p.Pro102Ser)
c.739C>T (p.Pro247Ser)
 dbSNP gnomAD v4
8g.71299218G>CCA371467442EYA1c.655C>G (p.Pro219Ala)
c.553C>G (p.Pro185Ala)
c.640C>G (p.Pro214Ala)
c.573C>G (p.Ile191Met)
n.1118C>G
c.*422C>G (n.*422C>G)
c.742C>G (p.Pro248Ala)
c.727C>G (p.Pro243Ala)
c.724C>G (p.Pro242Ala)
c.637C>G (p.Pro213Ala)
c.556C>G (p.Pro186Ala)
c.652C>G (p.Pro218Ala)
n.1150C>G
c.289C>G (p.Pro97Ala)
c.592C>G (p.Pro198Ala)
c.304C>G (p.Pro102Ala)
c.739C>G (p.Pro247Ala)
8g.71299218G=CA1792728380EYA1c.655C= (p.Pro219=)
c.553C= (p.Pro185=)
c.640C= (p.Pro214=)
c.573C= (p.Ile191=)
n.1118C=
c.*422C= (n.*422C=)
c.742C= (p.Pro248=)
c.727C= (p.Pro243=)
c.724C= (p.Pro242=)
c.637C= (p.Pro213=)
c.556C= (p.Pro186=)
c.652C= (p.Pro218=)
n.1150C=
c.289C= (p.Pro97=)
c.592C= (p.Pro198=)
c.304C= (p.Pro102=)
c.739C= (p.Pro247=)
8g.71299218G>TCA371467441EYA1c.655C>A (p.Pro219Thr)
c.553C>A (p.Pro185Thr)
c.640C>A (p.Pro214Thr)
c.573C>A (p.Ile191=)
n.1118C>A
c.*422C>A (n.*422C>A)
c.742C>A (p.Pro248Thr)
c.727C>A (p.Pro243Thr)
c.724C>A (p.Pro242Thr)
c.637C>A (p.Pro213Thr)
c.556C>A (p.Pro186Thr)
c.652C>A (p.Pro218Thr)
n.1150C>A
c.289C>A (p.Pro97Thr)
c.592C>A (p.Pro198Thr)
c.304C>A (p.Pro102Thr)
c.739C>A (p.Pro247Thr)
 COSMIC COSMIC
8g.71299219A>CCA371467444EYA1c.654T>G (p.Tyr218Ter)
c.552T>G (p.Tyr184Ter)
c.639T>G (p.Tyr213Ter)
c.572T>G (p.Ile191Ser)
n.1117T>G
c.*421T>G (n.*421T>G)
c.741T>G (p.Tyr247Ter)
c.726T>G (p.Tyr242Ter)
c.723T>G (p.Tyr241Ter)
c.636T>G (p.Tyr212Ter)
c.555T>G (p.Tyr185Ter)
c.651T>G (p.Tyr217Ter)
n.1149T>G
c.288T>G (p.Tyr96Ter)
c.591T>G (p.Tyr197Ter)
c.303T>G (p.Tyr101Ter)
c.738T>G (p.Tyr246Ter)
 ClinVar dbSNP
8g.71299219A>GCA461327924EYA1c.654T>C (p.Tyr218=)
c.552T>C (p.Tyr184=)
c.639T>C (p.Tyr213=)
c.572T>C (p.Ile191Thr)
n.1117T>C
c.*421T>C (n.*421T>C)
c.741T>C (p.Tyr247=)
c.726T>C (p.Tyr242=)
c.723T>C (p.Tyr241=)
c.636T>C (p.Tyr212=)
c.555T>C (p.Tyr185=)
c.651T>C (p.Tyr217=)
n.1149T>C
c.288T>C (p.Tyr96=)
c.591T>C (p.Tyr197=)
c.303T>C (p.Tyr101=)
c.738T>C (p.Tyr246=)
8g.71299219A>TCA371467445EYA1c.654T>A (p.Tyr218Ter)
c.552T>A (p.Tyr184Ter)
c.639T>A (p.Tyr213Ter)
c.572T>A (p.Ile191Asn)
n.1117T>A
c.*421T>A (n.*421T>A)
c.741T>A (p.Tyr247Ter)
c.726T>A (p.Tyr242Ter)
c.723T>A (p.Tyr241Ter)
c.636T>A (p.Tyr212Ter)
c.555T>A (p.Tyr185Ter)
c.651T>A (p.Tyr217Ter)
n.1149T>A
c.288T>A (p.Tyr96Ter)
c.591T>A (p.Tyr197Ter)
c.303T>A (p.Tyr101Ter)
c.738T>A (p.Tyr246Ter)
8g.71299220T>ACA371467446EYA1c.653A>T (p.Tyr218Phe)
c.551A>T (p.Tyr184Phe)
c.638A>T (p.Tyr213Phe)
c.571A>T (p.Ile191Phe)
n.1116A>T
c.*420A>T (n.*420A>T)
c.740A>T (p.Tyr247Phe)
c.725A>T (p.Tyr242Phe)
c.722A>T (p.Tyr241Phe)
c.635A>T (p.Tyr212Phe)
c.554A>T (p.Tyr185Phe)
c.650A>T (p.Tyr217Phe)
n.1148A>T
c.287A>T (p.Tyr96Phe)
c.590A>T (p.Tyr197Phe)
c.302A>T (p.Tyr101Phe)
c.737A>T (p.Tyr246Phe)
8g.71299220T>CCA371467447EYA1c.653A>G (p.Tyr218Cys)
c.551A>G (p.Tyr184Cys)
c.638A>G (p.Tyr213Cys)
c.571A>G (p.Ile191Val)
n.1116A>G
c.*420A>G (n.*420A>G)
c.740A>G (p.Tyr247Cys)
c.725A>G (p.Tyr242Cys)
c.722A>G (p.Tyr241Cys)
c.635A>G (p.Tyr212Cys)
c.554A>G (p.Tyr185Cys)
c.650A>G (p.Tyr217Cys)
n.1148A>G
c.287A>G (p.Tyr96Cys)
c.590A>G (p.Tyr197Cys)
c.302A>G (p.Tyr101Cys)
c.737A>G (p.Tyr246Cys)
8g.71299220T>GCA371467448EYA1c.653A>C (p.Tyr218Ser)
c.551A>C (p.Tyr184Ser)
c.638A>C (p.Tyr213Ser)
c.571A>C (p.Ile191Leu)
n.1116A>C
c.*420A>C (n.*420A>C)
c.740A>C (p.Tyr247Ser)
c.725A>C (p.Tyr242Ser)
c.722A>C (p.Tyr241Ser)
c.635A>C (p.Tyr212Ser)
c.554A>C (p.Tyr185Ser)
c.650A>C (p.Tyr217Ser)
n.1148A>C
c.287A>C (p.Tyr96Ser)
c.590A>C (p.Tyr197Ser)
c.302A>C (p.Tyr101Ser)
c.737A>C (p.Tyr246Ser)
8g.71299221A>CCA371467449EYA1c.652T>G (p.Tyr218Asp)
c.550T>G (p.Tyr184Asp)
c.637T>G (p.Tyr213Asp)
c.570T>G (p.Leu190=)
n.1115T>G
c.*419T>G (n.*419T>G)
c.739T>G (p.Tyr247Asp)
c.724T>G (p.Tyr242Asp)
c.721T>G (p.Tyr241Asp)
c.634T>G (p.Tyr212Asp)
c.553T>G (p.Tyr185Asp)
c.649T>G (p.Tyr217Asp)
n.1147T>G
c.286T>G (p.Tyr96Asp)
c.589T>G (p.Tyr197Asp)
c.301T>G (p.Tyr101Asp)
c.736T>G (p.Tyr246Asp)
8g.71299221A>GCA371467450EYA1c.652T>C (p.Tyr218His)
c.550T>C (p.Tyr184His)
c.637T>C (p.Tyr213His)
c.570T>C (p.Leu190=)
n.1115T>C
c.*419T>C (n.*419T>C)
c.739T>C (p.Tyr247His)
c.724T>C (p.Tyr242His)
c.721T>C (p.Tyr241His)
c.634T>C (p.Tyr212His)
c.553T>C (p.Tyr185His)
c.649T>C (p.Tyr217His)
n.1147T>C
c.286T>C (p.Tyr96His)
c.589T>C (p.Tyr197His)
c.301T>C (p.Tyr101His)
c.736T>C (p.Tyr246His)
8g.71299221A>TCA371467451EYA1c.652T>A (p.Tyr218Asn)
c.550T>A (p.Tyr184Asn)
c.637T>A (p.Tyr213Asn)
c.570T>A (p.Leu190=)
n.1115T>A
c.*419T>A (n.*419T>A)
c.739T>A (p.Tyr247Asn)
c.724T>A (p.Tyr242Asn)
c.721T>A (p.Tyr241Asn)
c.634T>A (p.Tyr212Asn)
c.553T>A (p.Tyr185Asn)
c.649T>A (p.Tyr217Asn)
n.1147T>A
c.286T>A (p.Tyr96Asn)
c.589T>A (p.Tyr197Asn)
c.301T>A (p.Tyr101Asn)
c.736T>A (p.Tyr246Asn)
8g.71299222A>CCA461327932EYA1c.651T>G (p.Ser217=)
c.549T>G (p.Ser183=)
c.636T>G (p.Ser212=)
c.569T>G (p.Leu190Arg)
n.1114T>G
c.*418T>G (n.*418T>G)
c.738T>G (p.Ser246=)
c.723T>G (p.Ser241=)
c.720T>G (p.Ser240=)
c.633T>G (p.Ser211=)
c.552T>G (p.Ser184=)
c.648T>G (p.Ser216=)
n.1146T>G
c.285T>G (p.Ser95=)
c.588T>G (p.Ser196=)
c.300T>G (p.Ser100=)
c.735T>G (p.Ser245=)
8g.71299222A>GCA461327931EYA1c.651T>C (p.Ser217=)
c.549T>C (p.Ser183=)
c.636T>C (p.Ser212=)
c.569T>C (p.Leu190Pro)
n.1114T>C
c.*418T>C (n.*418T>C)
c.738T>C (p.Ser246=)
c.723T>C (p.Ser241=)
c.720T>C (p.Ser240=)
c.633T>C (p.Ser211=)
c.552T>C (p.Ser184=)
c.648T>C (p.Ser216=)
n.1146T>C
c.285T>C (p.Ser95=)
c.588T>C (p.Ser196=)
c.300T>C (p.Ser100=)
c.735T>C (p.Ser245=)
8g.71299222A>TCA461327929EYA1c.651T>A (p.Ser217=)
c.549T>A (p.Ser183=)
c.636T>A (p.Ser212=)
c.569T>A (p.Leu190His)
n.1114T>A
c.*418T>A (n.*418T>A)
c.738T>A (p.Ser246=)
c.723T>A (p.Ser241=)
c.720T>A (p.Ser240=)
c.633T>A (p.Ser211=)
c.552T>A (p.Ser184=)
c.648T>A (p.Ser216=)
n.1146T>A
c.285T>A (p.Ser95=)
c.588T>A (p.Ser196=)
c.300T>A (p.Ser100=)
c.735T>A (p.Ser245=)
8g.71299223G>ACA371467452EYA1c.650C>T (p.Ser217Phe)
c.548C>T (p.Ser183Phe)
c.635C>T (p.Ser212Phe)
c.568C>T (p.Leu190Phe)
n.1113C>T
c.*417C>T (n.*417C>T)
c.737C>T (p.Ser246Phe)
c.722C>T (p.Ser241Phe)
c.719C>T (p.Ser240Phe)
c.632C>T (p.Ser211Phe)
c.551C>T (p.Ser184Phe)
c.647C>T (p.Ser216Phe)
n.1145C>T
c.284C>T (p.Ser95Phe)
c.587C>T (p.Ser196Phe)
c.299C>T (p.Ser100Phe)
c.734C>T (p.Ser245Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.71299223G>CCA371467453EYA1c.650C>G (p.Ser217Cys)
c.548C>G (p.Ser183Cys)
c.635C>G (p.Ser212Cys)
c.568C>G (p.Leu190Val)
n.1113C>G
c.*417C>G (n.*417C>G)
c.737C>G (p.Ser246Cys)
c.722C>G (p.Ser241Cys)
c.719C>G (p.Ser240Cys)
c.632C>G (p.Ser211Cys)
c.551C>G (p.Ser184Cys)
c.647C>G (p.Ser216Cys)
n.1145C>G
c.284C>G (p.Ser95Cys)
c.587C>G (p.Ser196Cys)
c.299C>G (p.Ser100Cys)
c.734C>G (p.Ser245Cys)
 gnomAD v4
8g.71299223G=CA1792728381EYA1c.650C= (p.Ser217=)
c.548C= (p.Ser183=)
c.635C= (p.Ser212=)
c.568C= (p.Leu190=)
n.1113C=
c.*417C= (n.*417C=)
c.737C= (p.Ser246=)
c.722C= (p.Ser241=)
c.719C= (p.Ser240=)
c.632C= (p.Ser211=)
c.551C= (p.Ser184=)
c.647C= (p.Ser216=)
n.1145C=
c.284C= (p.Ser95=)
c.587C= (p.Ser196=)
c.299C= (p.Ser100=)
c.734C= (p.Ser245=)
8g.71299223G>TCA371467454EYA1c.650C>A (p.Ser217Tyr)
c.548C>A (p.Ser183Tyr)
c.635C>A (p.Ser212Tyr)
c.568C>A (p.Leu190Ile)
n.1113C>A
c.*417C>A (n.*417C>A)
c.737C>A (p.Ser246Tyr)
c.722C>A (p.Ser241Tyr)
c.719C>A (p.Ser240Tyr)
c.632C>A (p.Ser211Tyr)
c.551C>A (p.Ser184Tyr)
c.647C>A (p.Ser216Tyr)
n.1145C>A
c.284C>A (p.Ser95Tyr)
c.587C>A (p.Ser196Tyr)
c.299C>A (p.Ser100Tyr)
c.734C>A (p.Ser245Tyr)
8g.71299224A>CCA371467455EYA1c.649T>G (p.Ser217Ala)
c.547T>G (p.Ser183Ala)
c.634T>G (p.Ser212Ala)
c.567T>G (p.Arg189=)
n.1112T>G
c.*416T>G (n.*416T>G)
c.736T>G (p.Ser246Ala)
c.721T>G (p.Ser241Ala)
c.718T>G (p.Ser240Ala)
c.631T>G (p.Ser211Ala)
c.550T>G (p.Ser184Ala)
c.646T>G (p.Ser216Ala)
n.1144T>G
c.283T>G (p.Ser95Ala)
c.586T>G (p.Ser196Ala)
c.298T>G (p.Ser100Ala)
c.733T>G (p.Ser245Ala)
8g.71299224A>GCA371467456EYA1c.649T>C (p.Ser217Pro)
c.547T>C (p.Ser183Pro)
c.634T>C (p.Ser212Pro)
c.567T>C (p.Arg189=)
n.1112T>C
c.*416T>C (n.*416T>C)
c.736T>C (p.Ser246Pro)
c.721T>C (p.Ser241Pro)
c.718T>C (p.Ser240Pro)
c.631T>C (p.Ser211Pro)
c.550T>C (p.Ser184Pro)
c.646T>C (p.Ser216Pro)
n.1144T>C
c.283T>C (p.Ser95Pro)
c.586T>C (p.Ser196Pro)
c.298T>C (p.Ser100Pro)
c.733T>C (p.Ser245Pro)
8g.71299224A>TCA371467457EYA1c.649T>A (p.Ser217Thr)
c.547T>A (p.Ser183Thr)
c.634T>A (p.Ser212Thr)
c.567T>A (p.Arg189=)
n.1112T>A
c.*416T>A (n.*416T>A)
c.736T>A (p.Ser246Thr)
c.721T>A (p.Ser241Thr)
c.718T>A (p.Ser240Thr)
c.631T>A (p.Ser211Thr)
c.550T>A (p.Ser184Thr)
c.646T>A (p.Ser216Thr)
n.1144T>A
c.283T>A (p.Ser95Thr)
c.586T>A (p.Ser196Thr)
c.298T>A (p.Ser100Thr)
c.733T>A (p.Ser245Thr)
8g.71299225C>ACA461327938EYA1c.648G>T (p.Pro216=)
c.546G>T (p.Pro182=)
c.633G>T (p.Pro211=)
c.566G>T (p.Arg189Leu)
n.1111G>T
c.*415G>T (n.*415G>T)
c.735G>T (p.Pro245=)
c.720G>T (p.Pro240=)
c.717G>T (p.Pro239=)
c.630G>T (p.Pro210=)
c.549G>T (p.Pro183=)
c.645G>T (p.Pro215=)
n.1143G>T
c.282G>T (p.Pro94=)
c.585G>T (p.Pro195=)
c.297G>T (p.Pro99=)
c.732G>T (p.Pro244=)
8g.71299225C=CA1792728382EYA1c.648G= (p.Pro216=)
c.546G= (p.Pro182=)
c.633G= (p.Pro211=)
c.566G= (p.Arg189=)
n.1111G=
c.*415G= (n.*415G=)
c.735G= (p.Pro245=)
c.720G= (p.Pro240=)
c.717G= (p.Pro239=)
c.630G= (p.Pro210=)
c.549G= (p.Pro183=)
c.645G= (p.Pro215=)
n.1143G=
c.282G= (p.Pro94=)
c.585G= (p.Pro195=)
c.297G= (p.Pro99=)
c.732G= (p.Pro244=)
8g.71299225C>GCA461327939EYA1c.648G>C (p.Pro216=)
c.546G>C (p.Pro182=)
c.633G>C (p.Pro211=)
c.566G>C (p.Arg189Pro)
n.1111G>C
c.*415G>C (n.*415G>C)
c.735G>C (p.Pro245=)
c.720G>C (p.Pro240=)
c.717G>C (p.Pro239=)
c.630G>C (p.Pro210=)
c.549G>C (p.Pro183=)
c.645G>C (p.Pro215=)
n.1143G>C
c.282G>C (p.Pro94=)
c.585G>C (p.Pro195=)
c.297G>C (p.Pro99=)
c.732G>C (p.Pro244=)
8g.71299225C>TCA4779692EYA1c.648G>A (p.Pro216=)
c.546G>A (p.Pro182=)
c.633G>A (p.Pro211=)
c.566G>A (p.Arg189His)
n.1111G>A
c.*415G>A (n.*415G>A)
c.735G>A (p.Pro245=)
c.720G>A (p.Pro240=)
c.717G>A (p.Pro239=)
c.630G>A (p.Pro210=)
c.549G>A (p.Pro183=)
c.645G>A (p.Pro215=)
n.1143G>A
c.282G>A (p.Pro94=)
c.585G>A (p.Pro195=)
c.297G>A (p.Pro99=)
c.732G>A (p.Pro244=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299226G>ACA4779693EYA1c.647C>T (p.Pro216Leu)
c.545C>T (p.Pro182Leu)
c.632C>T (p.Pro211Leu)
c.565C>T (p.Arg189Cys)
n.1110C>T
c.*414C>T (n.*414C>T)
c.734C>T (p.Pro245Leu)
c.719C>T (p.Pro240Leu)
c.716C>T (p.Pro239Leu)
c.629C>T (p.Pro210Leu)
c.548C>T (p.Pro183Leu)
c.644C>T (p.Pro215Leu)
n.1142C>T
c.281C>T (p.Pro94Leu)
c.584C>T (p.Pro195Leu)
c.296C>T (p.Pro99Leu)
c.731C>T (p.Pro244Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.71299226G>CCA371467459EYA1c.647C>G (p.Pro216Arg)
c.545C>G (p.Pro182Arg)
c.632C>G (p.Pro211Arg)
c.565C>G (p.Arg189Gly)
n.1110C>G
c.*414C>G (n.*414C>G)
c.734C>G (p.Pro245Arg)
c.719C>G (p.Pro240Arg)
c.716C>G (p.Pro239Arg)
c.629C>G (p.Pro210Arg)
c.548C>G (p.Pro183Arg)
c.644C>G (p.Pro215Arg)
n.1142C>G
c.281C>G (p.Pro94Arg)
c.584C>G (p.Pro195Arg)
c.296C>G (p.Pro99Arg)
c.731C>G (p.Pro244Arg)
 ClinVar dbSNP gnomAD v4
8g.71299226G=CA1792728383EYA1c.647C= (p.Pro216=)
c.545C= (p.Pro182=)
c.632C= (p.Pro211=)
c.565C= (p.Arg189=)
n.1110C=
c.*414C= (n.*414C=)
c.734C= (p.Pro245=)
c.719C= (p.Pro240=)
c.716C= (p.Pro239=)
c.629C= (p.Pro210=)
c.548C= (p.Pro183=)
c.644C= (p.Pro215=)
n.1142C=
c.281C= (p.Pro94=)
c.584C= (p.Pro195=)
c.296C= (p.Pro99=)
c.731C= (p.Pro244=)
8g.71299226G>TCA371467458EYA1c.647C>A (p.Pro216Gln)
c.545C>A (p.Pro182Gln)
c.632C>A (p.Pro211Gln)
c.565C>A (p.Arg189Ser)
n.1110C>A
c.*414C>A (n.*414C>A)
c.734C>A (p.Pro245Gln)
c.719C>A (p.Pro240Gln)
c.716C>A (p.Pro239Gln)
c.629C>A (p.Pro210Gln)
c.548C>A (p.Pro183Gln)
c.644C>A (p.Pro215Gln)
n.1142C>A
c.281C>A (p.Pro94Gln)
c.584C>A (p.Pro195Gln)
c.296C>A (p.Pro99Gln)
c.731C>A (p.Pro244Gln)
8g.71299227G>ACA371467460EYA1c.646C>T (p.Pro216Ser)
c.544C>T (p.Pro182Ser)
c.631C>T (p.Pro211Ser)
c.564C>T (p.Ile188=)
n.1109C>T
c.*413C>T (n.*413C>T)
c.733C>T (p.Pro245Ser)
c.718C>T (p.Pro240Ser)
c.715C>T (p.Pro239Ser)
c.628C>T (p.Pro210Ser)
c.547C>T (p.Pro183Ser)
c.643C>T (p.Pro215Ser)
n.1141C>T
c.280C>T (p.Pro94Ser)
c.583C>T (p.Pro195Ser)
c.295C>T (p.Pro99Ser)
c.730C>T (p.Pro244Ser)
 COSMIC COSMIC
8g.71299227G>CCA371467461EYA1c.646C>G (p.Pro216Ala)
c.544C>G (p.Pro182Ala)
c.631C>G (p.Pro211Ala)
c.564C>G (p.Ile188Met)
n.1109C>G
c.*413C>G (n.*413C>G)
c.733C>G (p.Pro245Ala)
c.718C>G (p.Pro240Ala)
c.715C>G (p.Pro239Ala)
c.628C>G (p.Pro210Ala)
c.547C>G (p.Pro183Ala)
c.643C>G (p.Pro215Ala)
n.1141C>G
c.280C>G (p.Pro94Ala)
c.583C>G (p.Pro195Ala)
c.295C>G (p.Pro99Ala)
c.730C>G (p.Pro244Ala)
 COSMIC COSMIC
8g.71299227G>TCA371467462EYA1c.646C>A (p.Pro216Thr)
c.544C>A (p.Pro182Thr)
c.631C>A (p.Pro211Thr)
c.564C>A (p.Ile188=)
n.1109C>A
c.*413C>A (n.*413C>A)
c.733C>A (p.Pro245Thr)
c.718C>A (p.Pro240Thr)
c.715C>A (p.Pro239Thr)
c.628C>A (p.Pro210Thr)
c.547C>A (p.Pro183Thr)
c.643C>A (p.Pro215Thr)
n.1141C>A
c.280C>A (p.Pro94Thr)
c.583C>A (p.Pro195Thr)
c.295C>A (p.Pro99Thr)
c.730C>A (p.Pro244Thr)
8g.71299228A>CCA371467463EYA1c.645T>G (p.Tyr215Ter)
c.543T>G (p.Tyr181Ter)
c.630T>G (p.Tyr210Ter)
c.563T>G (p.Ile188Ser)
n.1108T>G
c.*412T>G (n.*412T>G)
c.732T>G (p.Tyr244Ter)
c.717T>G (p.Tyr239Ter)
c.714T>G (p.Tyr238Ter)
c.627T>G (p.Tyr209Ter)
c.546T>G (p.Tyr182Ter)
c.642T>G (p.Tyr214Ter)
n.1140T>G
c.279T>G (p.Tyr93Ter)
c.582T>G (p.Tyr194Ter)
c.294T>G (p.Tyr98Ter)
c.729T>G (p.Tyr243Ter)
8g.71299228A>GCA461327945EYA1c.645T>C (p.Tyr215=)
c.543T>C (p.Tyr181=)
c.630T>C (p.Tyr210=)
c.563T>C (p.Ile188Thr)
n.1108T>C
c.*412T>C (n.*412T>C)
c.732T>C (p.Tyr244=)
c.717T>C (p.Tyr239=)
c.714T>C (p.Tyr238=)
c.627T>C (p.Tyr209=)
c.546T>C (p.Tyr182=)
c.642T>C (p.Tyr214=)
n.1140T>C
c.279T>C (p.Tyr93=)
c.582T>C (p.Tyr194=)
c.294T>C (p.Tyr98=)
c.729T>C (p.Tyr243=)
8g.71299228A>TCA371467464EYA1c.645T>A (p.Tyr215Ter)
c.543T>A (p.Tyr181Ter)
c.630T>A (p.Tyr210Ter)
c.563T>A (p.Ile188Asn)
n.1108T>A
c.*412T>A (n.*412T>A)
c.732T>A (p.Tyr244Ter)
c.717T>A (p.Tyr239Ter)
c.714T>A (p.Tyr238Ter)
c.627T>A (p.Tyr209Ter)
c.546T>A (p.Tyr182Ter)
c.642T>A (p.Tyr214Ter)
n.1140T>A
c.279T>A (p.Tyr93Ter)
c.582T>A (p.Tyr194Ter)
c.294T>A (p.Tyr98Ter)
c.729T>A (p.Tyr243Ter)
8g.71299229T>ACA371467465EYA1c.644A>T (p.Tyr215Phe)
c.542A>T (p.Tyr181Phe)
c.629A>T (p.Tyr210Phe)
c.562A>T (p.Ile188Phe)
n.1107A>T
c.*411A>T (n.*411A>T)
c.731A>T (p.Tyr244Phe)
c.716A>T (p.Tyr239Phe)
c.713A>T (p.Tyr238Phe)
c.626A>T (p.Tyr209Phe)
c.545A>T (p.Tyr182Phe)
c.641A>T (p.Tyr214Phe)
n.1139A>T
c.278A>T (p.Tyr93Phe)
c.581A>T (p.Tyr194Phe)
c.293A>T (p.Tyr98Phe)
c.728A>T (p.Tyr243Phe)
8g.71299229T>CCA371467466EYA1c.644A>G (p.Tyr215Cys)
c.542A>G (p.Tyr181Cys)
c.629A>G (p.Tyr210Cys)
c.562A>G (p.Ile188Val)
n.1107A>G
c.*411A>G (n.*411A>G)
c.731A>G (p.Tyr244Cys)
c.716A>G (p.Tyr239Cys)
c.713A>G (p.Tyr238Cys)
c.626A>G (p.Tyr209Cys)
c.545A>G (p.Tyr182Cys)
c.641A>G (p.Tyr214Cys)
n.1139A>G
c.278A>G (p.Tyr93Cys)
c.581A>G (p.Tyr194Cys)
c.293A>G (p.Tyr98Cys)
c.728A>G (p.Tyr243Cys)
8g.71299229T>GCA371467467EYA1c.644A>C (p.Tyr215Ser)
c.542A>C (p.Tyr181Ser)
c.629A>C (p.Tyr210Ser)
c.562A>C (p.Ile188Leu)
n.1107A>C
c.*411A>C (n.*411A>C)
c.731A>C (p.Tyr244Ser)
c.716A>C (p.Tyr239Ser)
c.713A>C (p.Tyr238Ser)
c.626A>C (p.Tyr209Ser)
c.545A>C (p.Tyr182Ser)
c.641A>C (p.Tyr214Ser)
n.1139A>C
c.278A>C (p.Tyr93Ser)
c.581A>C (p.Tyr194Ser)
c.293A>C (p.Tyr98Ser)
c.728A>C (p.Tyr243Ser)
8g.71299230A>CCA371467468EYA1c.643T>G (p.Tyr215Asp)
c.541T>G (p.Tyr181Asp)
c.628T>G (p.Tyr210Asp)
c.561T>G (p.Thr187=)
n.1106T>G
c.*410T>G (n.*410T>G)
c.730T>G (p.Tyr244Asp)
c.715T>G (p.Tyr239Asp)
c.712T>G (p.Tyr238Asp)
c.625T>G (p.Tyr209Asp)
c.544T>G (p.Tyr182Asp)
c.640T>G (p.Tyr214Asp)
n.1138T>G
c.277T>G (p.Tyr93Asp)
c.580T>G (p.Tyr194Asp)
c.292T>G (p.Tyr98Asp)
c.727T>G (p.Tyr243Asp)
8g.71299230A>GCA371467469EYA1c.643T>C (p.Tyr215His)
c.541T>C (p.Tyr181His)
c.628T>C (p.Tyr210His)
c.561T>C (p.Thr187=)
n.1106T>C
c.*410T>C (n.*410T>C)
c.730T>C (p.Tyr244His)
c.715T>C (p.Tyr239His)
c.712T>C (p.Tyr238His)
c.625T>C (p.Tyr209His)
c.544T>C (p.Tyr182His)
c.640T>C (p.Tyr214His)
n.1138T>C
c.277T>C (p.Tyr93His)
c.580T>C (p.Tyr194His)
c.292T>C (p.Tyr98His)
c.727T>C (p.Tyr243His)
8g.71299230A>TCA371467470EYA1c.643T>A (p.Tyr215Asn)
c.541T>A (p.Tyr181Asn)
c.628T>A (p.Tyr210Asn)
c.561T>A (p.Thr187=)
n.1106T>A
c.*410T>A (n.*410T>A)
c.730T>A (p.Tyr244Asn)
c.715T>A (p.Tyr239Asn)
c.712T>A (p.Tyr238Asn)
c.625T>A (p.Tyr209Asn)
c.544T>A (p.Tyr182Asn)
c.640T>A (p.Tyr214Asn)
n.1138T>A
c.277T>A (p.Tyr93Asn)
c.580T>A (p.Tyr194Asn)
c.292T>A (p.Tyr98Asn)
c.727T>A (p.Tyr243Asn)
8g.71299231G>ACA461327947EYA1c.642C>T (p.Asp214=)
c.540C>T (p.Asp180=)
c.627C>T (p.Asp209=)
c.560C>T (p.Thr187Ile)
n.1105C>T
c.*409C>T (n.*409C>T)
c.729C>T (p.Asp243=)
c.714C>T (p.Asp238=)
c.711C>T (p.Asp237=)
c.624C>T (p.Asp208=)
c.543C>T (p.Asp181=)
c.639C>T (p.Asp213=)
n.1137C>T
c.276C>T (p.Asp92=)
c.579C>T (p.Asp193=)
c.291C>T (p.Asp97=)
c.726C>T (p.Asp242=)
8g.71299231G>CCA371467472EYA1c.642C>G (p.Asp214Glu)
c.540C>G (p.Asp180Glu)
c.627C>G (p.Asp209Glu)
c.560C>G (p.Thr187Ser)
n.1105C>G
c.*409C>G (n.*409C>G)
c.729C>G (p.Asp243Glu)
c.714C>G (p.Asp238Glu)
c.711C>G (p.Asp237Glu)
c.624C>G (p.Asp208Glu)
c.543C>G (p.Asp181Glu)
c.639C>G (p.Asp213Glu)
n.1137C>G
c.276C>G (p.Asp92Glu)
c.579C>G (p.Asp193Glu)
c.291C>G (p.Asp97Glu)
c.726C>G (p.Asp242Glu)
8g.71299231G>TCA371467471EYA1c.642C>A (p.Asp214Glu)
c.540C>A (p.Asp180Glu)
c.627C>A (p.Asp209Glu)
c.560C>A (p.Thr187Asn)
n.1105C>A
c.*409C>A (n.*409C>A)
c.729C>A (p.Asp243Glu)
c.714C>A (p.Asp238Glu)
c.711C>A (p.Asp237Glu)
c.624C>A (p.Asp208Glu)
c.543C>A (p.Asp181Glu)
c.639C>A (p.Asp213Glu)
n.1137C>A
c.276C>A (p.Asp92Glu)
c.579C>A (p.Asp193Glu)
c.291C>A (p.Asp97Glu)
c.726C>A (p.Asp242Glu)
8g.71299232T>ACA371467473EYA1c.641A>T (p.Asp214Val)
c.539A>T (p.Asp180Val)
c.626A>T (p.Asp209Val)
c.559A>T (p.Thr187Ser)
n.1104A>T
c.*408A>T (n.*408A>T)
c.728A>T (p.Asp243Val)
c.713A>T (p.Asp238Val)
c.710A>T (p.Asp237Val)
c.623A>T (p.Asp208Val)
c.542A>T (p.Asp181Val)
c.638A>T (p.Asp213Val)
n.1136A>T
c.275A>T (p.Asp92Val)
c.578A>T (p.Asp193Val)
c.290A>T (p.Asp97Val)
c.725A>T (p.Asp242Val)
8g.71299232T>CCA371467474EYA1c.641A>G (p.Asp214Gly)
c.539A>G (p.Asp180Gly)
c.626A>G (p.Asp209Gly)
c.559A>G (p.Thr187Ala)
n.1104A>G
c.*408A>G (n.*408A>G)
c.728A>G (p.Asp243Gly)
c.713A>G (p.Asp238Gly)
c.710A>G (p.Asp237Gly)
c.623A>G (p.Asp208Gly)
c.542A>G (p.Asp181Gly)
c.638A>G (p.Asp213Gly)
n.1136A>G
c.275A>G (p.Asp92Gly)
c.578A>G (p.Asp193Gly)
c.290A>G (p.Asp97Gly)
c.725A>G (p.Asp242Gly)
8g.71299232T>GCA371467475EYA1c.641A>C (p.Asp214Ala)
c.539A>C (p.Asp180Ala)
c.626A>C (p.Asp209Ala)
c.559A>C (p.Thr187Pro)
n.1104A>C
c.*408A>C (n.*408A>C)
c.728A>C (p.Asp243Ala)
c.713A>C (p.Asp238Ala)
c.710A>C (p.Asp237Ala)
c.623A>C (p.Asp208Ala)
c.542A>C (p.Asp181Ala)
c.638A>C (p.Asp213Ala)
n.1136A>C
c.275A>C (p.Asp92Ala)
c.578A>C (p.Asp193Ala)
c.290A>C (p.Asp97Ala)
c.725A>C (p.Asp242Ala)
8g.71299233C>ACA371467476EYA1c.640G>T (p.Asp214Tyr)
c.538G>T (p.Asp180Tyr)
c.625G>T (p.Asp209Tyr)
c.558G>T (p.Arg186Ser)
n.1103G>T
c.*407G>T (n.*407G>T)
c.727G>T (p.Asp243Tyr)
c.712G>T (p.Asp238Tyr)
c.709G>T (p.Asp237Tyr)
c.622G>T (p.Asp208Tyr)
c.541G>T (p.Asp181Tyr)
c.637G>T (p.Asp213Tyr)
n.1135G>T
c.274G>T (p.Asp92Tyr)
c.577G>T (p.Asp193Tyr)
c.289G>T (p.Asp97Tyr)
c.724G>T (p.Asp242Tyr)
8g.71299233C=CA1792728384EYA1c.640G= (p.Asp214=)
c.538G= (p.Asp180=)
c.625G= (p.Asp209=)
c.558G= (p.Arg186=)
n.1103G=
c.*407G= (n.*407G=)
c.727G= (p.Asp243=)
c.712G= (p.Asp238=)
c.709G= (p.Asp237=)
c.622G= (p.Asp208=)
c.541G= (p.Asp181=)
c.637G= (p.Asp213=)
n.1135G=
c.274G= (p.Asp92=)
c.577G= (p.Asp193=)
c.289G= (p.Asp97=)
c.724G= (p.Asp242=)
8g.71299233C>GCA371467477EYA1c.640G>C (p.Asp214His)
c.538G>C (p.Asp180His)
c.625G>C (p.Asp209His)
c.558G>C (p.Arg186Ser)
n.1103G>C
c.*407G>C (n.*407G>C)
c.727G>C (p.Asp243His)
c.712G>C (p.Asp238His)
c.709G>C (p.Asp237His)
c.622G>C (p.Asp208His)
c.541G>C (p.Asp181His)
c.637G>C (p.Asp213His)
n.1135G>C
c.274G>C (p.Asp92His)
c.577G>C (p.Asp193His)
c.289G>C (p.Asp97His)
c.724G>C (p.Asp242His)
8g.71299233C>TCA371467478EYA1c.640G>A (p.Asp214Asn)
c.538G>A (p.Asp180Asn)
c.625G>A (p.Asp209Asn)
c.558G>A (p.Arg186=)
n.1103G>A
c.*407G>A (n.*407G>A)
c.727G>A (p.Asp243Asn)
c.712G>A (p.Asp238Asn)
c.709G>A (p.Asp237Asn)
c.622G>A (p.Asp208Asn)
c.541G>A (p.Asp181Asn)
c.637G>A (p.Asp213Asn)
n.1135G>A
c.274G>A (p.Asp92Asn)
c.577G>A (p.Asp193Asn)
c.289G>A (p.Asp97Asn)
c.724G>A (p.Asp242Asn)
 ClinVar dbSNP COSMIC COSMIC

Number of alleles fetched