Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.71299039_71299058delCA2687600679EYA1c.815_826+8del
c.713_724+8del
c.800_811+8del
c.*94_*105+8del
c.51_62+8del
n.1278_1289+8del
c.*582_*593+8del
c.902_913+8del
c.887_898+8del
c.884_895+8del
c.797_808+8del
c.716_727+8del
c.812_823+8del
c.-269_-258+8del
n.1310_1321+8del
c.449_460+8del
c.752_763+8del
c.464_475+8del
c.899_910+8del
 gnomAD v4
8g.71299043T>ACA2579186822EYA1c.826+4A>T (n.826+4A>T)
c.724+4A>T (n.724+4A>T)
c.811+4A>T (n.811+4A>T)
c.*105+4A>T (n.*105+4A>T)
c.62+4A>T
n.1289+4A>T
c.*593+4A>T (n.*593+4A>T)
c.913+4A>T (n.913+4A>T)
c.898+4A>T (n.898+4A>T)
c.895+4A>T (n.895+4A>T)
c.808+4A>T (n.808+4A>T)
c.727+4A>T (n.727+4A>T)
c.823+4A>T (n.823+4A>T)
c.-258+4A>T (n.-258+4A>T)
n.1321+4A>T
c.460+4A>T (n.460+4A>T)
c.763+4A>T (n.763+4A>T)
c.475+4A>T (n.475+4A>T)
c.910+4A>T (n.910+4A>T)
8g.71299043T>GCA854921292EYA1c.826+4A>C (n.826+4A>C)
c.724+4A>C (n.724+4A>C)
c.811+4A>C (n.811+4A>C)
c.*105+4A>C (n.*105+4A>C)
c.62+4A>C
n.1289+4A>C
c.*593+4A>C (n.*593+4A>C)
c.913+4A>C (n.913+4A>C)
c.898+4A>C (n.898+4A>C)
c.895+4A>C (n.895+4A>C)
c.808+4A>C (n.808+4A>C)
c.727+4A>C (n.727+4A>C)
c.823+4A>C (n.823+4A>C)
c.-258+4A>C (n.-258+4A>C)
n.1321+4A>C
c.460+4A>C (n.460+4A>C)
c.763+4A>C (n.763+4A>C)
c.475+4A>C (n.475+4A>C)
c.910+4A>C (n.910+4A>C)
 dbSNP gnomAD v3 gnomAD v4
8g.71299043T=CA1792728300EYA1c.826+4A= (n.826+4A=)
c.724+4A= (n.724+4A=)
c.811+4A= (n.811+4A=)
c.*105+4A= (n.*105+4A=)
c.62+4A=
n.1289+4A=
c.*593+4A= (n.*593+4A=)
c.913+4A= (n.913+4A=)
c.898+4A= (n.898+4A=)
c.895+4A= (n.895+4A=)
c.808+4A= (n.808+4A=)
c.727+4A= (n.727+4A=)
c.823+4A= (n.823+4A=)
c.-258+4A= (n.-258+4A=)
n.1321+4A=
c.460+4A= (n.460+4A=)
c.763+4A= (n.763+4A=)
c.475+4A= (n.475+4A=)
c.910+4A= (n.910+4A=)
8g.71299044T>CCA179208432EYA1c.826+3A>G (n.826+3A>G)
c.724+3A>G (n.724+3A>G)
c.811+3A>G (n.811+3A>G)
c.*105+3A>G (n.*105+3A>G)
c.62+3A>G
n.1289+3A>G
c.*593+3A>G (n.*593+3A>G)
c.913+3A>G (n.913+3A>G)
c.898+3A>G (n.898+3A>G)
c.895+3A>G (n.895+3A>G)
c.808+3A>G (n.808+3A>G)
c.727+3A>G (n.727+3A>G)
c.823+3A>G (n.823+3A>G)
c.-258+3A>G (n.-258+3A>G)
n.1321+3A>G
c.460+3A>G (n.460+3A>G)
c.763+3A>G (n.763+3A>G)
c.475+3A>G (n.475+3A>G)
c.910+3A>G (n.910+3A>G)
 dbSNP
8g.71299044T=CA1792728301EYA1c.826+3A= (n.826+3A=)
c.724+3A= (n.724+3A=)
c.811+3A= (n.811+3A=)
c.*105+3A= (n.*105+3A=)
c.62+3A=
n.1289+3A=
c.*593+3A= (n.*593+3A=)
c.913+3A= (n.913+3A=)
c.898+3A= (n.898+3A=)
c.895+3A= (n.895+3A=)
c.808+3A= (n.808+3A=)
c.727+3A= (n.727+3A=)
c.823+3A= (n.823+3A=)
c.-258+3A= (n.-258+3A=)
n.1321+3A=
c.460+3A= (n.460+3A=)
c.763+3A= (n.763+3A=)
c.475+3A= (n.475+3A=)
c.910+3A= (n.910+3A=)
8g.71299045A=CA1792728302EYA1c.826+2T= (n.826+2T=)
c.724+2T= (n.724+2T=)
c.811+2T= (n.811+2T=)
c.*105+2T= (n.*105+2T=)
c.62+2T=
n.1289+2T=
c.*593+2T= (n.*593+2T=)
c.913+2T= (n.913+2T=)
c.898+2T= (n.898+2T=)
c.895+2T= (n.895+2T=)
c.808+2T= (n.808+2T=)
c.727+2T= (n.727+2T=)
c.823+2T= (n.823+2T=)
c.-258+2T= (n.-258+2T=)
n.1321+2T=
c.460+2T= (n.460+2T=)
c.763+2T= (n.763+2T=)
c.475+2T= (n.475+2T=)
c.910+2T= (n.910+2T=)
8g.71299045A>CCA371467067EYA1c.826+2T>G (n.826+2T>G)
c.724+2T>G (n.724+2T>G)
c.811+2T>G (n.811+2T>G)
c.*105+2T>G (n.*105+2T>G)
c.62+2T>G
n.1289+2T>G
c.*593+2T>G (n.*593+2T>G)
c.913+2T>G (n.913+2T>G)
c.898+2T>G (n.898+2T>G)
c.895+2T>G (n.895+2T>G)
c.808+2T>G (n.808+2T>G)
c.727+2T>G (n.727+2T>G)
c.823+2T>G (n.823+2T>G)
c.-258+2T>G (n.-258+2T>G)
n.1321+2T>G
c.460+2T>G (n.460+2T>G)
c.763+2T>G (n.763+2T>G)
c.475+2T>G (n.475+2T>G)
c.910+2T>G (n.910+2T>G)
8g.71299045A>GCA179208439EYA1c.826+2T>C (n.826+2T>C)
c.724+2T>C (n.724+2T>C)
c.811+2T>C (n.811+2T>C)
c.*105+2T>C (n.*105+2T>C)
c.62+2T>C
n.1289+2T>C
c.*593+2T>C (n.*593+2T>C)
c.913+2T>C (n.913+2T>C)
c.898+2T>C (n.898+2T>C)
c.895+2T>C (n.895+2T>C)
c.808+2T>C (n.808+2T>C)
c.727+2T>C (n.727+2T>C)
c.823+2T>C (n.823+2T>C)
c.-258+2T>C (n.-258+2T>C)
n.1321+2T>C
c.460+2T>C (n.460+2T>C)
c.763+2T>C (n.763+2T>C)
c.475+2T>C (n.475+2T>C)
c.910+2T>C (n.910+2T>C)
 dbSNP gnomAD v3 gnomAD v4
8g.71299045A>TCA371467068EYA1c.826+2T>A (n.826+2T>A)
c.724+2T>A (n.724+2T>A)
c.811+2T>A (n.811+2T>A)
c.*105+2T>A (n.*105+2T>A)
c.62+2T>A
n.1289+2T>A
c.*593+2T>A (n.*593+2T>A)
c.913+2T>A (n.913+2T>A)
c.898+2T>A (n.898+2T>A)
c.895+2T>A (n.895+2T>A)
c.808+2T>A (n.808+2T>A)
c.727+2T>A (n.727+2T>A)
c.823+2T>A (n.823+2T>A)
c.-258+2T>A (n.-258+2T>A)
n.1321+2T>A
c.460+2T>A (n.460+2T>A)
c.763+2T>A (n.763+2T>A)
c.475+2T>A (n.475+2T>A)
c.910+2T>A (n.910+2T>A)
8g.71299046C>ACA371467069EYA1c.826+1G>T (n.826+1G>T)
c.724+1G>T (n.724+1G>T)
c.811+1G>T (n.811+1G>T)
c.*105+1G>T (n.*105+1G>T)
c.62+1G>T
n.1289+1G>T
c.*593+1G>T (n.*593+1G>T)
c.913+1G>T (n.913+1G>T)
c.898+1G>T (n.898+1G>T)
c.895+1G>T (n.895+1G>T)
c.808+1G>T (n.808+1G>T)
c.727+1G>T (n.727+1G>T)
c.823+1G>T (n.823+1G>T)
c.-258+1G>T (n.-258+1G>T)
n.1321+1G>T
c.460+1G>T (n.460+1G>T)
c.763+1G>T (n.763+1G>T)
c.475+1G>T (n.475+1G>T)
c.910+1G>T (n.910+1G>T)
 gnomAD v4
8g.71299046C>GCA371467070EYA1c.826+1G>C (n.826+1G>C)
c.724+1G>C (n.724+1G>C)
c.811+1G>C (n.811+1G>C)
c.*105+1G>C (n.*105+1G>C)
c.62+1G>C
n.1289+1G>C
c.*593+1G>C (n.*593+1G>C)
c.913+1G>C (n.913+1G>C)
c.898+1G>C (n.898+1G>C)
c.895+1G>C (n.895+1G>C)
c.808+1G>C (n.808+1G>C)
c.727+1G>C (n.727+1G>C)
c.823+1G>C (n.823+1G>C)
c.-258+1G>C (n.-258+1G>C)
n.1321+1G>C
c.460+1G>C (n.460+1G>C)
c.763+1G>C (n.763+1G>C)
c.475+1G>C (n.475+1G>C)
c.910+1G>C (n.910+1G>C)
8g.71299046C>TCA371467071EYA1c.826+1G>A (n.826+1G>A)
c.724+1G>A (n.724+1G>A)
c.811+1G>A (n.811+1G>A)
c.*105+1G>A (n.*105+1G>A)
c.62+1G>A
n.1289+1G>A
c.*593+1G>A (n.*593+1G>A)
c.913+1G>A (n.913+1G>A)
c.898+1G>A (n.898+1G>A)
c.895+1G>A (n.895+1G>A)
c.808+1G>A (n.808+1G>A)
c.727+1G>A (n.727+1G>A)
c.823+1G>A (n.823+1G>A)
c.-258+1G>A (n.-258+1G>A)
n.1321+1G>A
c.460+1G>A (n.460+1G>A)
c.763+1G>A (n.763+1G>A)
c.475+1G>A (n.475+1G>A)
c.910+1G>A (n.910+1G>A)
 ClinVar
8g.71299047C>ACA371467072EYA1c.826G>T (p.Glu276Ter)
c.724G>T (p.Glu242Ter)
c.811G>T (p.Glu271Ter)
c.*105G>T (n.*105G>T)
c.62G>T
n.1289G>T
c.*593G>T (n.*593G>T)
c.913G>T (p.Glu305Ter)
c.898G>T (p.Glu300Ter)
c.895G>T (p.Glu299Ter)
c.808G>T (p.Glu270Ter)
c.727G>T (p.Glu243Ter)
c.823G>T (p.Glu275Ter)
c.-258G>T (n.-258G>T)
n.1321G>T
c.460G>T (p.Glu154Ter)
c.763G>T (p.Glu255Ter)
c.475G>T (p.Glu159Ter)
c.910G>T (p.Glu304Ter)
8g.71299047C>GCA371467073EYA1c.826G>C (p.Glu276Gln)
c.724G>C (p.Glu242Gln)
c.811G>C (p.Glu271Gln)
c.*105G>C (n.*105G>C)
c.62G>C
n.1289G>C
c.*593G>C (n.*593G>C)
c.913G>C (p.Glu305Gln)
c.898G>C (p.Glu300Gln)
c.895G>C (p.Glu299Gln)
c.808G>C (p.Glu270Gln)
c.727G>C (p.Glu243Gln)
c.823G>C (p.Glu275Gln)
c.-258G>C (n.-258G>C)
n.1321G>C
c.460G>C (p.Glu154Gln)
c.763G>C (p.Glu255Gln)
c.475G>C (p.Glu159Gln)
c.910G>C (p.Glu304Gln)
8g.71299047C>TCA371467074EYA1c.826G>A (p.Glu276Lys)
c.724G>A (p.Glu242Lys)
c.811G>A (p.Glu271Lys)
c.*105G>A (n.*105G>A)
c.62G>A
n.1289G>A
c.*593G>A (n.*593G>A)
c.913G>A (p.Glu305Lys)
c.898G>A (p.Glu300Lys)
c.895G>A (p.Glu299Lys)
c.808G>A (p.Glu270Lys)
c.727G>A (p.Glu243Lys)
c.823G>A (p.Glu275Lys)
c.-258G>A (n.-258G>A)
n.1321G>A
c.460G>A (p.Glu154Lys)
c.763G>A (p.Glu255Lys)
c.475G>A (p.Glu159Lys)
c.910G>A (p.Glu304Lys)
8g.71299048T>ACA461327807EYA1c.825A>T (p.Ala275=)
c.723A>T (p.Ala241=)
c.810A>T (p.Ala270=)
c.*104A>T (n.*104A>T)
c.61A>T
n.1288A>T
c.*592A>T (n.*592A>T)
c.912A>T (p.Ala304=)
c.897A>T (p.Ala299=)
c.894A>T (p.Ala298=)
c.807A>T (p.Ala269=)
c.726A>T (p.Ala242=)
c.822A>T (p.Ala274=)
c.-259A>T (n.-259A>T)
n.1320A>T
c.459A>T (p.Ala153=)
c.762A>T (p.Ala254=)
c.474A>T (p.Ala158=)
c.909A>T (p.Ala303=)
8g.71299048T>CCA461327809EYA1c.825A>G (p.Ala275=)
c.723A>G (p.Ala241=)
c.810A>G (p.Ala270=)
c.*104A>G (n.*104A>G)
c.61A>G
n.1288A>G
c.*592A>G (n.*592A>G)
c.912A>G (p.Ala304=)
c.897A>G (p.Ala299=)
c.894A>G (p.Ala298=)
c.807A>G (p.Ala269=)
c.726A>G (p.Ala242=)
c.822A>G (p.Ala274=)
c.-259A>G (n.-259A>G)
n.1320A>G
c.459A>G (p.Ala153=)
c.762A>G (p.Ala254=)
c.474A>G (p.Ala158=)
c.909A>G (p.Ala303=)
8g.71299048T>GCA461327808EYA1c.825A>C (p.Ala275=)
c.723A>C (p.Ala241=)
c.810A>C (p.Ala270=)
c.*104A>C (n.*104A>C)
c.61A>C
n.1288A>C
c.*592A>C (n.*592A>C)
c.912A>C (p.Ala304=)
c.897A>C (p.Ala299=)
c.894A>C (p.Ala298=)
c.807A>C (p.Ala269=)
c.726A>C (p.Ala242=)
c.822A>C (p.Ala274=)
c.-259A>C (n.-259A>C)
n.1320A>C
c.459A>C (p.Ala153=)
c.762A>C (p.Ala254=)
c.474A>C (p.Ala158=)
c.909A>C (p.Ala303=)
8g.71299049G>ACA371467075EYA1c.824C>T (p.Ala275Val)
c.722C>T (p.Ala241Val)
c.809C>T (p.Ala270Val)
c.*103C>T (n.*103C>T)
c.60C>T
n.1287C>T
c.*591C>T (n.*591C>T)
c.911C>T (p.Ala304Val)
c.896C>T (p.Ala299Val)
c.893C>T (p.Ala298Val)
c.806C>T (p.Ala269Val)
c.725C>T (p.Ala242Val)
c.821C>T (p.Ala274Val)
c.-260C>T (n.-260C>T)
n.1319C>T
c.458C>T (p.Ala153Val)
c.761C>T (p.Ala254Val)
c.473C>T (p.Ala158Val)
c.908C>T (p.Ala303Val)
8g.71299049G>CCA371467076EYA1c.824C>G (p.Ala275Gly)
c.722C>G (p.Ala241Gly)
c.809C>G (p.Ala270Gly)
c.*103C>G (n.*103C>G)
c.60C>G
n.1287C>G
c.*591C>G (n.*591C>G)
c.911C>G (p.Ala304Gly)
c.896C>G (p.Ala299Gly)
c.893C>G (p.Ala298Gly)
c.806C>G (p.Ala269Gly)
c.725C>G (p.Ala242Gly)
c.821C>G (p.Ala274Gly)
c.-260C>G (n.-260C>G)
n.1319C>G
c.458C>G (p.Ala153Gly)
c.761C>G (p.Ala254Gly)
c.473C>G (p.Ala158Gly)
c.908C>G (p.Ala303Gly)
8g.71299049G>TCA371467077EYA1c.824C>A (p.Ala275Glu)
c.722C>A (p.Ala241Glu)
c.809C>A (p.Ala270Glu)
c.*103C>A (n.*103C>A)
c.60C>A
n.1287C>A
c.*591C>A (n.*591C>A)
c.911C>A (p.Ala304Glu)
c.896C>A (p.Ala299Glu)
c.893C>A (p.Ala298Glu)
c.806C>A (p.Ala269Glu)
c.725C>A (p.Ala242Glu)
c.821C>A (p.Ala274Glu)
c.-260C>A (n.-260C>A)
n.1319C>A
c.458C>A (p.Ala153Glu)
c.761C>A (p.Ala254Glu)
c.473C>A (p.Ala158Glu)
c.908C>A (p.Ala303Glu)
8g.71299050C>ACA371467078EYA1c.823G>T (p.Ala275Ser)
c.721G>T (p.Ala241Ser)
c.808G>T (p.Ala270Ser)
c.*102G>T (n.*102G>T)
c.59G>T
n.1286G>T
c.*590G>T (n.*590G>T)
c.910G>T (p.Ala304Ser)
c.895G>T (p.Ala299Ser)
c.892G>T (p.Ala298Ser)
c.805G>T (p.Ala269Ser)
c.724G>T (p.Ala242Ser)
c.820G>T (p.Ala274Ser)
c.-261G>T (n.-261G>T)
n.1318G>T
c.457G>T (p.Ala153Ser)
c.760G>T (p.Ala254Ser)
c.472G>T (p.Ala158Ser)
c.907G>T (p.Ala303Ser)
8g.71299050C>GCA371467079EYA1c.823G>C (p.Ala275Pro)
c.721G>C (p.Ala241Pro)
c.808G>C (p.Ala270Pro)
c.*102G>C (n.*102G>C)
c.59G>C
n.1286G>C
c.*590G>C (n.*590G>C)
c.910G>C (p.Ala304Pro)
c.895G>C (p.Ala299Pro)
c.892G>C (p.Ala298Pro)
c.805G>C (p.Ala269Pro)
c.724G>C (p.Ala242Pro)
c.820G>C (p.Ala274Pro)
c.-261G>C (n.-261G>C)
n.1318G>C
c.457G>C (p.Ala153Pro)
c.760G>C (p.Ala254Pro)
c.472G>C (p.Ala158Pro)
c.907G>C (p.Ala303Pro)
8g.71299050C>TCA371467080EYA1c.823G>A (p.Ala275Thr)
c.721G>A (p.Ala241Thr)
c.808G>A (p.Ala270Thr)
c.*102G>A (n.*102G>A)
c.59G>A
n.1286G>A
c.*590G>A (n.*590G>A)
c.910G>A (p.Ala304Thr)
c.895G>A (p.Ala299Thr)
c.892G>A (p.Ala298Thr)
c.805G>A (p.Ala269Thr)
c.724G>A (p.Ala242Thr)
c.820G>A (p.Ala274Thr)
c.-261G>A (n.-261G>A)
n.1318G>A
c.457G>A (p.Ala153Thr)
c.760G>A (p.Ala254Thr)
c.472G>A (p.Ala158Thr)
c.907G>A (p.Ala303Thr)
 gnomAD v4
8g.71299054_71299062dupCA2687600680EYA1c.815_823dup (p.Thr274_Ala275insAspProThr)
c.713_721dup (p.Thr240_Ala241insAspProThr)
c.800_808dup (p.Thr269_Ala270insAspProThr)
c.*94_*102dup (n.*94_*102dup)
c.51_59dup
n.1278_1286dup
c.*582_*590dup (n.*582_*590dup)
c.902_910dup (p.Thr303_Ala304insAspProThr)
c.887_895dup (p.Thr298_Ala299insAspProThr)
c.884_892dup (p.Thr297_Ala298insAspProThr)
c.797_805dup (p.Thr268_Ala269insAspProThr)
c.716_724dup (p.Thr241_Ala242insAspProThr)
c.812_820dup (p.Thr273_Ala274insAspProThr)
c.-269_-261dup (n.-269_-261dup)
n.1310_1318dup
c.449_457dup (p.Thr152_Ala153insAspProThr)
c.752_760dup (p.Thr253_Ala254insAspProThr)
c.464_472dup (p.Thr157_Ala158insAspProThr)
c.899_907dup (p.Thr302_Ala303insAspProThr)
 gnomAD v4
8g.71299051T>ACA461327812EYA1c.822A>T (p.Thr274=)
c.720A>T (p.Thr240=)
c.807A>T (p.Thr269=)
c.*101A>T (n.*101A>T)
c.58A>T
n.1285A>T
c.*589A>T (n.*589A>T)
c.909A>T (p.Thr303=)
c.894A>T (p.Thr298=)
c.891A>T (p.Thr297=)
c.804A>T (p.Thr268=)
c.723A>T (p.Thr241=)
c.819A>T (p.Thr273=)
c.-262A>T (n.-262A>T)
n.1317A>T
c.456A>T (p.Thr152=)
c.759A>T (p.Thr253=)
c.471A>T (p.Thr157=)
c.906A>T (p.Thr302=)
8g.71299051T>CCA461327811EYA1c.822A>G (p.Thr274=)
c.720A>G (p.Thr240=)
c.807A>G (p.Thr269=)
c.*101A>G (n.*101A>G)
c.58A>G
n.1285A>G
c.*589A>G (n.*589A>G)
c.909A>G (p.Thr303=)
c.894A>G (p.Thr298=)
c.891A>G (p.Thr297=)
c.804A>G (p.Thr268=)
c.723A>G (p.Thr241=)
c.819A>G (p.Thr273=)
c.-262A>G (n.-262A>G)
n.1317A>G
c.456A>G (p.Thr152=)
c.759A>G (p.Thr253=)
c.471A>G (p.Thr157=)
c.906A>G (p.Thr302=)
8g.71299051T>GCA461327810EYA1c.822A>C (p.Thr274=)
c.720A>C (p.Thr240=)
c.807A>C (p.Thr269=)
c.*101A>C (n.*101A>C)
c.58A>C
n.1285A>C
c.*589A>C (n.*589A>C)
c.909A>C (p.Thr303=)
c.894A>C (p.Thr298=)
c.891A>C (p.Thr297=)
c.804A>C (p.Thr268=)
c.723A>C (p.Thr241=)
c.819A>C (p.Thr273=)
c.-262A>C (n.-262A>C)
n.1317A>C
c.456A>C (p.Thr152=)
c.759A>C (p.Thr253=)
c.471A>C (p.Thr157=)
c.906A>C (p.Thr302=)
8g.71299052delCA2695209784EYA1c.821del (p.Thr274LysfsTer?)
c.719del (p.Thr240LysfsTer?)
c.806del (p.Thr269LysfsTer?)
c.*100del (n.*100del)
c.57del
n.1284del
c.*588del (n.*588del)
c.908del (p.Thr303LysfsTer?)
c.893del (p.Thr298LysfsTer?)
c.890del (p.Thr297LysfsTer?)
c.803del (p.Thr268LysfsTer?)
c.722del (p.Thr241LysfsTer?)
c.818del (p.Thr273LysfsTer?)
c.-263del (n.-263del)
n.1316del
c.455del (p.Thr152LysfsTer?)
c.758del (p.Thr253LysfsTer?)
c.470del (p.Thr157LysfsTer?)
c.905del (p.Thr302LysfsTer?)
8g.71299052G>ACA371467082EYA1c.821C>T (p.Thr274Ile)
c.719C>T (p.Thr240Ile)
c.806C>T (p.Thr269Ile)
c.*100C>T (n.*100C>T)
c.57C>T
n.1284C>T
c.*588C>T (n.*588C>T)
c.908C>T (p.Thr303Ile)
c.893C>T (p.Thr298Ile)
c.890C>T (p.Thr297Ile)
c.803C>T (p.Thr268Ile)
c.722C>T (p.Thr241Ile)
c.818C>T (p.Thr273Ile)
c.-263C>T (n.-263C>T)
n.1316C>T
c.455C>T (p.Thr152Ile)
c.758C>T (p.Thr253Ile)
c.470C>T (p.Thr157Ile)
c.905C>T (p.Thr302Ile)
8g.71299052G>CCA371467081EYA1c.821C>G (p.Thr274Arg)
c.719C>G (p.Thr240Arg)
c.806C>G (p.Thr269Arg)
c.*100C>G (n.*100C>G)
c.57C>G
n.1284C>G
c.*588C>G (n.*588C>G)
c.908C>G (p.Thr303Arg)
c.893C>G (p.Thr298Arg)
c.890C>G (p.Thr297Arg)
c.803C>G (p.Thr268Arg)
c.722C>G (p.Thr241Arg)
c.818C>G (p.Thr273Arg)
c.-263C>G (n.-263C>G)
n.1316C>G
c.455C>G (p.Thr152Arg)
c.758C>G (p.Thr253Arg)
c.470C>G (p.Thr157Arg)
c.905C>G (p.Thr302Arg)
8g.71299052G=CA1792728303EYA1c.821C= (p.Thr274=)
c.719C= (p.Thr240=)
c.806C= (p.Thr269=)
c.*100C= (n.*100C=)
c.57C=
n.1284C=
c.*588C= (n.*588C=)
c.908C= (p.Thr303=)
c.893C= (p.Thr298=)
c.890C= (p.Thr297=)
c.803C= (p.Thr268=)
c.722C= (p.Thr241=)
c.818C= (p.Thr273=)
c.-263C= (n.-263C=)
n.1316C=
c.455C= (p.Thr152=)
c.758C= (p.Thr253=)
c.470C= (p.Thr157=)
c.905C= (p.Thr302=)
8g.71299052G>TCA179208461EYA1c.821C>A (p.Thr274Lys)
c.719C>A (p.Thr240Lys)
c.806C>A (p.Thr269Lys)
c.*100C>A (n.*100C>A)
c.57C>A
n.1284C>A
c.*588C>A (n.*588C>A)
c.908C>A (p.Thr303Lys)
c.893C>A (p.Thr298Lys)
c.890C>A (p.Thr297Lys)
c.803C>A (p.Thr268Lys)
c.722C>A (p.Thr241Lys)
c.818C>A (p.Thr273Lys)
c.-263C>A (n.-263C>A)
n.1316C>A
c.455C>A (p.Thr152Lys)
c.758C>A (p.Thr253Lys)
c.470C>A (p.Thr157Lys)
c.905C>A (p.Thr302Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.71299053T>ACA371467083EYA1c.820A>T (p.Thr274Ser)
c.718A>T (p.Thr240Ser)
c.805A>T (p.Thr269Ser)
c.*99A>T (n.*99A>T)
c.56A>T
n.1283A>T
c.*587A>T (n.*587A>T)
c.907A>T (p.Thr303Ser)
c.892A>T (p.Thr298Ser)
c.889A>T (p.Thr297Ser)
c.802A>T (p.Thr268Ser)
c.721A>T (p.Thr241Ser)
c.817A>T (p.Thr273Ser)
c.-264A>T (n.-264A>T)
n.1315A>T
c.454A>T (p.Thr152Ser)
c.757A>T (p.Thr253Ser)
c.469A>T (p.Thr157Ser)
c.904A>T (p.Thr302Ser)
8g.71299053T>CCA371467084EYA1c.820A>G (p.Thr274Ala)
c.718A>G (p.Thr240Ala)
c.805A>G (p.Thr269Ala)
c.*99A>G (n.*99A>G)
c.56A>G
n.1283A>G
c.*587A>G (n.*587A>G)
c.907A>G (p.Thr303Ala)
c.892A>G (p.Thr298Ala)
c.889A>G (p.Thr297Ala)
c.802A>G (p.Thr268Ala)
c.721A>G (p.Thr241Ala)
c.817A>G (p.Thr273Ala)
c.-264A>G (n.-264A>G)
n.1315A>G
c.454A>G (p.Thr152Ala)
c.757A>G (p.Thr253Ala)
c.469A>G (p.Thr157Ala)
c.904A>G (p.Thr302Ala)
8g.71299053T>GCA371467085EYA1c.820A>C (p.Thr274Pro)
c.718A>C (p.Thr240Pro)
c.805A>C (p.Thr269Pro)
c.*99A>C (n.*99A>C)
c.56A>C
n.1283A>C
c.*587A>C (n.*587A>C)
c.907A>C (p.Thr303Pro)
c.892A>C (p.Thr298Pro)
c.889A>C (p.Thr297Pro)
c.802A>C (p.Thr268Pro)
c.721A>C (p.Thr241Pro)
c.817A>C (p.Thr273Pro)
c.-264A>C (n.-264A>C)
n.1315A>C
c.454A>C (p.Thr152Pro)
c.757A>C (p.Thr253Pro)
c.469A>C (p.Thr157Pro)
c.904A>C (p.Thr302Pro)
8g.71299054G>ACA461327813EYA1c.819C>T (p.Pro273=)
c.717C>T (p.Pro239=)
c.804C>T (p.Pro268=)
c.*98C>T (n.*98C>T)
c.55C>T
n.1282C>T
c.*586C>T (n.*586C>T)
c.906C>T (p.Pro302=)
c.891C>T (p.Pro297=)
c.888C>T (p.Pro296=)
c.801C>T (p.Pro267=)
c.720C>T (p.Pro240=)
c.816C>T (p.Pro272=)
c.-265C>T (n.-265C>T)
n.1314C>T
c.453C>T (p.Pro151=)
c.756C>T (p.Pro252=)
c.468C>T (p.Pro156=)
c.903C>T (p.Pro301=)
8g.71299054G>CCA461327815EYA1c.819C>G (p.Pro273=)
c.717C>G (p.Pro239=)
c.804C>G (p.Pro268=)
c.*98C>G (n.*98C>G)
c.55C>G
n.1282C>G
c.*586C>G (n.*586C>G)
c.906C>G (p.Pro302=)
c.891C>G (p.Pro297=)
c.888C>G (p.Pro296=)
c.801C>G (p.Pro267=)
c.720C>G (p.Pro240=)
c.816C>G (p.Pro272=)
c.-265C>G (n.-265C>G)
n.1314C>G
c.453C>G (p.Pro151=)
c.756C>G (p.Pro252=)
c.468C>G (p.Pro156=)
c.903C>G (p.Pro301=)
8g.71299054G>TCA461327814EYA1c.819C>A (p.Pro273=)
c.717C>A (p.Pro239=)
c.804C>A (p.Pro268=)
c.*98C>A (n.*98C>A)
c.55C>A
n.1282C>A
c.*586C>A (n.*586C>A)
c.906C>A (p.Pro302=)
c.891C>A (p.Pro297=)
c.888C>A (p.Pro296=)
c.801C>A (p.Pro267=)
c.720C>A (p.Pro240=)
c.816C>A (p.Pro272=)
c.-265C>A (n.-265C>A)
n.1314C>A
c.453C>A (p.Pro151=)
c.756C>A (p.Pro252=)
c.468C>A (p.Pro156=)
c.903C>A (p.Pro301=)
 gnomAD v4
8g.71299055G>ACA371467086EYA1c.818C>T (p.Pro273Leu)
c.716C>T (p.Pro239Leu)
c.803C>T (p.Pro268Leu)
c.*97C>T (n.*97C>T)
c.54C>T
n.1281C>T
c.*585C>T (n.*585C>T)
c.905C>T (p.Pro302Leu)
c.890C>T (p.Pro297Leu)
c.887C>T (p.Pro296Leu)
c.800C>T (p.Pro267Leu)
c.719C>T (p.Pro240Leu)
c.815C>T (p.Pro272Leu)
c.-266C>T (n.-266C>T)
n.1313C>T
c.452C>T (p.Pro151Leu)
c.755C>T (p.Pro252Leu)
c.467C>T (p.Pro156Leu)
c.902C>T (p.Pro301Leu)
8g.71299055G>CCA371467087EYA1c.818C>G (p.Pro273Arg)
c.716C>G (p.Pro239Arg)
c.803C>G (p.Pro268Arg)
c.*97C>G (n.*97C>G)
c.54C>G
n.1281C>G
c.*585C>G (n.*585C>G)
c.905C>G (p.Pro302Arg)
c.890C>G (p.Pro297Arg)
c.887C>G (p.Pro296Arg)
c.800C>G (p.Pro267Arg)
c.719C>G (p.Pro240Arg)
c.815C>G (p.Pro272Arg)
c.-266C>G (n.-266C>G)
n.1313C>G
c.452C>G (p.Pro151Arg)
c.755C>G (p.Pro252Arg)
c.467C>G (p.Pro156Arg)
c.902C>G (p.Pro301Arg)
8g.71299055G>TCA371467088EYA1c.818C>A (p.Pro273His)
c.716C>A (p.Pro239His)
c.803C>A (p.Pro268His)
c.*97C>A (n.*97C>A)
c.54C>A
n.1281C>A
c.*585C>A (n.*585C>A)
c.905C>A (p.Pro302His)
c.890C>A (p.Pro297His)
c.887C>A (p.Pro296His)
c.800C>A (p.Pro267His)
c.719C>A (p.Pro240His)
c.815C>A (p.Pro272His)
c.-266C>A (n.-266C>A)
n.1313C>A
c.452C>A (p.Pro151His)
c.755C>A (p.Pro252His)
c.467C>A (p.Pro156His)
c.902C>A (p.Pro301His)
8g.71299056G>ACA4779660EYA1c.817C>T (p.Pro273Ser)
c.715C>T (p.Pro239Ser)
c.802C>T (p.Pro268Ser)
c.*96C>T (n.*96C>T)
c.53C>T
n.1280C>T
c.*584C>T (n.*584C>T)
c.904C>T (p.Pro302Ser)
c.889C>T (p.Pro297Ser)
c.886C>T (p.Pro296Ser)
c.799C>T (p.Pro267Ser)
c.718C>T (p.Pro240Ser)
c.814C>T (p.Pro272Ser)
c.-267C>T (n.-267C>T)
n.1312C>T
c.451C>T (p.Pro151Ser)
c.754C>T (p.Pro252Ser)
c.466C>T (p.Pro156Ser)
c.901C>T (p.Pro301Ser)
 dbSNP ExAC
8g.71299056G>CCA371467089EYA1c.817C>G (p.Pro273Ala)
c.715C>G (p.Pro239Ala)
c.802C>G (p.Pro268Ala)
c.*96C>G (n.*96C>G)
c.53C>G
n.1280C>G
c.*584C>G (n.*584C>G)
c.904C>G (p.Pro302Ala)
c.889C>G (p.Pro297Ala)
c.886C>G (p.Pro296Ala)
c.799C>G (p.Pro267Ala)
c.718C>G (p.Pro240Ala)
c.814C>G (p.Pro272Ala)
c.-267C>G (n.-267C>G)
n.1312C>G
c.451C>G (p.Pro151Ala)
c.754C>G (p.Pro252Ala)
c.466C>G (p.Pro156Ala)
c.901C>G (p.Pro301Ala)
8g.71299056G=CA1792728304EYA1c.817C= (p.Pro273=)
c.715C= (p.Pro239=)
c.802C= (p.Pro268=)
c.*96C= (n.*96C=)
c.53C=
n.1280C=
c.*584C= (n.*584C=)
c.904C= (p.Pro302=)
c.889C= (p.Pro297=)
c.886C= (p.Pro296=)
c.799C= (p.Pro267=)
c.718C= (p.Pro240=)
c.814C= (p.Pro272=)
c.-267C= (n.-267C=)
n.1312C=
c.451C= (p.Pro151=)
c.754C= (p.Pro252=)
c.466C= (p.Pro156=)
c.901C= (p.Pro301=)
8g.71299056G>TCA371467090EYA1c.817C>A (p.Pro273Thr)
c.715C>A (p.Pro239Thr)
c.802C>A (p.Pro268Thr)
c.*96C>A (n.*96C>A)
c.53C>A
n.1280C>A
c.*584C>A (n.*584C>A)
c.904C>A (p.Pro302Thr)
c.889C>A (p.Pro297Thr)
c.886C>A (p.Pro296Thr)
c.799C>A (p.Pro267Thr)
c.718C>A (p.Pro240Thr)
c.814C>A (p.Pro272Thr)
c.-267C>A (n.-267C>A)
n.1312C>A
c.451C>A (p.Pro151Thr)
c.754C>A (p.Pro252Thr)
c.466C>A (p.Pro156Thr)
c.901C>A (p.Pro301Thr)
8g.71299057A=CA1792728305EYA1c.816T= (p.Asp272=)
c.714T= (p.Asp238=)
c.801T= (p.Asp267=)
c.*95T= (n.*95T=)
c.52T=
n.1279T=
c.*583T= (n.*583T=)
c.903T= (p.Asp301=)
c.888T= (p.Asp296=)
c.885T= (p.Asp295=)
c.798T= (p.Asp266=)
c.717T= (p.Asp239=)
c.813T= (p.Asp271=)
c.-268T= (n.-268T=)
n.1311T=
c.450T= (p.Asp150=)
c.753T= (p.Asp251=)
c.465T= (p.Asp155=)
c.900T= (p.Asp300=)
8g.71299057A>CCA371467091EYA1c.816T>G (p.Asp272Glu)
c.714T>G (p.Asp238Glu)
c.801T>G (p.Asp267Glu)
c.*95T>G (n.*95T>G)
c.52T>G
n.1279T>G
c.*583T>G (n.*583T>G)
c.903T>G (p.Asp301Glu)
c.888T>G (p.Asp296Glu)
c.885T>G (p.Asp295Glu)
c.798T>G (p.Asp266Glu)
c.717T>G (p.Asp239Glu)
c.813T>G (p.Asp271Glu)
c.-268T>G (n.-268T>G)
n.1311T>G
c.450T>G (p.Asp150Glu)
c.753T>G (p.Asp251Glu)
c.465T>G (p.Asp155Glu)
c.900T>G (p.Asp300Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.71299057A>GCA461327816EYA1c.816T>C (p.Asp272=)
c.714T>C (p.Asp238=)
c.801T>C (p.Asp267=)
c.*95T>C (n.*95T>C)
c.52T>C
n.1279T>C
c.*583T>C (n.*583T>C)
c.903T>C (p.Asp301=)
c.888T>C (p.Asp296=)
c.885T>C (p.Asp295=)
c.798T>C (p.Asp266=)
c.717T>C (p.Asp239=)
c.813T>C (p.Asp271=)
c.-268T>C (n.-268T>C)
n.1311T>C
c.450T>C (p.Asp150=)
c.753T>C (p.Asp251=)
c.465T>C (p.Asp155=)
c.900T>C (p.Asp300=)
8g.71299057A>TCA371467092EYA1c.816T>A (p.Asp272Glu)
c.714T>A (p.Asp238Glu)
c.801T>A (p.Asp267Glu)
c.*95T>A (n.*95T>A)
c.52T>A
n.1279T>A
c.*583T>A (n.*583T>A)
c.903T>A (p.Asp301Glu)
c.888T>A (p.Asp296Glu)
c.885T>A (p.Asp295Glu)
c.798T>A (p.Asp266Glu)
c.717T>A (p.Asp239Glu)
c.813T>A (p.Asp271Glu)
c.-268T>A (n.-268T>A)
n.1311T>A
c.450T>A (p.Asp150Glu)
c.753T>A (p.Asp251Glu)
c.465T>A (p.Asp155Glu)
c.900T>A (p.Asp300Glu)
8g.71299058T>ACA371467094EYA1c.815A>T (p.Asp272Val)
c.713A>T (p.Asp238Val)
c.800A>T (p.Asp267Val)
c.*94A>T (n.*94A>T)
c.51A>T
n.1278A>T
c.*582A>T (n.*582A>T)
c.902A>T (p.Asp301Val)
c.887A>T (p.Asp296Val)
c.884A>T (p.Asp295Val)
c.797A>T (p.Asp266Val)
c.716A>T (p.Asp239Val)
c.812A>T (p.Asp271Val)
c.-269A>T (n.-269A>T)
n.1310A>T
c.449A>T (p.Asp150Val)
c.752A>T (p.Asp251Val)
c.464A>T (p.Asp155Val)
c.899A>T (p.Asp300Val)
8g.71299058T>CCA4779661EYA1c.815A>G (p.Asp272Gly)
c.713A>G (p.Asp238Gly)
c.800A>G (p.Asp267Gly)
c.*94A>G (n.*94A>G)
c.51A>G
n.1278A>G
c.*582A>G (n.*582A>G)
c.902A>G (p.Asp301Gly)
c.887A>G (p.Asp296Gly)
c.884A>G (p.Asp295Gly)
c.797A>G (p.Asp266Gly)
c.716A>G (p.Asp239Gly)
c.812A>G (p.Asp271Gly)
c.-269A>G (n.-269A>G)
n.1310A>G
c.449A>G (p.Asp150Gly)
c.752A>G (p.Asp251Gly)
c.464A>G (p.Asp155Gly)
c.899A>G (p.Asp300Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71299058T>GCA371467093EYA1c.815A>C (p.Asp272Ala)
c.713A>C (p.Asp238Ala)
c.800A>C (p.Asp267Ala)
c.*94A>C (n.*94A>C)
c.51A>C
n.1278A>C
c.*582A>C (n.*582A>C)
c.902A>C (p.Asp301Ala)
c.887A>C (p.Asp296Ala)
c.884A>C (p.Asp295Ala)
c.797A>C (p.Asp266Ala)
c.716A>C (p.Asp239Ala)
c.812A>C (p.Asp271Ala)
c.-269A>C (n.-269A>C)
n.1310A>C
c.449A>C (p.Asp150Ala)
c.752A>C (p.Asp251Ala)
c.464A>C (p.Asp155Ala)
c.899A>C (p.Asp300Ala)
8g.71299058T=CA1792728306EYA1c.815A= (p.Asp272=)
c.713A= (p.Asp238=)
c.800A= (p.Asp267=)
c.*94A= (n.*94A=)
c.51A=
n.1278A=
c.*582A= (n.*582A=)
c.902A= (p.Asp301=)
c.887A= (p.Asp296=)
c.884A= (p.Asp295=)
c.797A= (p.Asp266=)
c.716A= (p.Asp239=)
c.812A= (p.Asp271=)
c.-269A= (n.-269A=)
n.1310A=
c.449A= (p.Asp150=)
c.752A= (p.Asp251=)
c.464A= (p.Asp155=)
c.899A= (p.Asp300=)
8g.71299059C>ACA371467097EYA1c.814G>T (p.Asp272Tyr)
c.712G>T (p.Asp238Tyr)
c.799G>T (p.Asp267Tyr)
c.*93G>T (n.*93G>T)
c.50G>T
n.1277G>T
c.*581G>T (n.*581G>T)
c.901G>T (p.Asp301Tyr)
c.886G>T (p.Asp296Tyr)
c.883G>T (p.Asp295Tyr)
c.796G>T (p.Asp266Tyr)
c.715G>T (p.Asp239Tyr)
c.811G>T (p.Asp271Tyr)
c.-270G>T (n.-270G>T)
n.1309G>T
c.448G>T (p.Asp150Tyr)
c.751G>T (p.Asp251Tyr)
c.463G>T (p.Asp155Tyr)
c.898G>T (p.Asp300Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.71299059C=CA1792728307EYA1c.814G= (p.Asp272=)
c.712G= (p.Asp238=)
c.799G= (p.Asp267=)
c.*93G= (n.*93G=)
c.50G=
n.1277G=
c.*581G= (n.*581G=)
c.901G= (p.Asp301=)
c.886G= (p.Asp296=)
c.883G= (p.Asp295=)
c.796G= (p.Asp266=)
c.715G= (p.Asp239=)
c.811G= (p.Asp271=)
c.-270G= (n.-270G=)
n.1309G=
c.448G= (p.Asp150=)
c.751G= (p.Asp251=)
c.463G= (p.Asp155=)
c.898G= (p.Asp300=)
8g.71299059C>GCA371467095EYA1c.814G>C (p.Asp272His)
c.712G>C (p.Asp238His)
c.799G>C (p.Asp267His)
c.*93G>C (n.*93G>C)
c.50G>C
n.1277G>C
c.*581G>C (n.*581G>C)
c.901G>C (p.Asp301His)
c.886G>C (p.Asp296His)
c.883G>C (p.Asp295His)
c.796G>C (p.Asp266His)
c.715G>C (p.Asp239His)
c.811G>C (p.Asp271His)
c.-270G>C (n.-270G>C)
n.1309G>C
c.448G>C (p.Asp150His)
c.751G>C (p.Asp251His)
c.463G>C (p.Asp155His)
c.898G>C (p.Asp300His)
8g.71299059C>TCA371467096EYA1c.814G>A (p.Asp272Asn)
c.712G>A (p.Asp238Asn)
c.799G>A (p.Asp267Asn)
c.*93G>A (n.*93G>A)
c.50G>A
n.1277G>A
c.*581G>A (n.*581G>A)
c.901G>A (p.Asp301Asn)
c.886G>A (p.Asp296Asn)
c.883G>A (p.Asp295Asn)
c.796G>A (p.Asp266Asn)
c.715G>A (p.Asp239Asn)
c.811G>A (p.Asp271Asn)
c.-270G>A (n.-270G>A)
n.1309G>A
c.448G>A (p.Asp150Asn)
c.751G>A (p.Asp251Asn)
c.463G>A (p.Asp155Asn)
c.898G>A (p.Asp300Asn)
8g.71299060T>ACA461327817EYA1c.813A>T (p.Thr271=)
c.711A>T (p.Thr237=)
c.798A>T (p.Thr266=)
c.*92A>T (n.*92A>T)
c.49A>T
n.1276A>T
c.*580A>T (n.*580A>T)
c.900A>T (p.Thr300=)
c.885A>T (p.Thr295=)
c.882A>T (p.Thr294=)
c.795A>T (p.Thr265=)
c.714A>T (p.Thr238=)
c.810A>T (p.Thr270=)
c.-271A>T (n.-271A>T)
n.1308A>T
c.447A>T (p.Thr149=)
c.750A>T (p.Thr250=)
c.462A>T (p.Thr154=)
c.897A>T (p.Thr299=)
8g.71299060T>CCA142609EYA1c.813A>G (p.Thr271=)
c.711A>G (p.Thr237=)
c.798A>G (p.Thr266=)
c.*92A>G (n.*92A>G)
c.49A>G
n.1276A>G
c.*580A>G (n.*580A>G)
c.900A>G (p.Thr300=)
c.885A>G (p.Thr295=)
c.882A>G (p.Thr294=)
c.795A>G (p.Thr265=)
c.714A>G (p.Thr238=)
c.810A>G (p.Thr270=)
c.-271A>G (n.-271A>G)
n.1308A>G
c.447A>G (p.Thr149=)
c.750A>G (p.Thr250=)
c.462A>G (p.Thr154=)
c.897A>G (p.Thr299=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299060T>GCA461327818EYA1c.813A>C (p.Thr271=)
c.711A>C (p.Thr237=)
c.798A>C (p.Thr266=)
c.*92A>C (n.*92A>C)
c.49A>C
n.1276A>C
c.*580A>C (n.*580A>C)
c.900A>C (p.Thr300=)
c.885A>C (p.Thr295=)
c.882A>C (p.Thr294=)
c.795A>C (p.Thr265=)
c.714A>C (p.Thr238=)
c.810A>C (p.Thr270=)
c.-271A>C (n.-271A>C)
n.1308A>C
c.447A>C (p.Thr149=)
c.750A>C (p.Thr250=)
c.462A>C (p.Thr154=)
c.897A>C (p.Thr299=)
8g.71299060T=CA1792728308EYA1c.813A= (p.Thr271=)
c.711A= (p.Thr237=)
c.798A= (p.Thr266=)
c.*92A= (n.*92A=)
c.49A=
n.1276A=
c.*580A= (n.*580A=)
c.900A= (p.Thr300=)
c.885A= (p.Thr295=)
c.882A= (p.Thr294=)
c.795A= (p.Thr265=)
c.714A= (p.Thr238=)
c.810A= (p.Thr270=)
c.-271A= (n.-271A=)
n.1308A=
c.447A= (p.Thr149=)
c.750A= (p.Thr250=)
c.462A= (p.Thr154=)
c.897A= (p.Thr299=)
8g.71299061G>ACA4779662EYA1c.812C>T (p.Thr271Ile)
c.710C>T (p.Thr237Ile)
c.797C>T (p.Thr266Ile)
c.*91C>T (n.*91C>T)
c.48C>T
n.1275C>T
c.*579C>T (n.*579C>T)
c.899C>T (p.Thr300Ile)
c.884C>T (p.Thr295Ile)
c.881C>T (p.Thr294Ile)
c.794C>T (p.Thr265Ile)
c.713C>T (p.Thr238Ile)
c.809C>T (p.Thr270Ile)
c.-272C>T (n.-272C>T)
n.1307C>T
c.446C>T (p.Thr149Ile)
c.749C>T (p.Thr250Ile)
c.461C>T (p.Thr154Ile)
c.896C>T (p.Thr299Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.71299061G>CCA371467098EYA1c.812C>G (p.Thr271Arg)
c.710C>G (p.Thr237Arg)
c.797C>G (p.Thr266Arg)
c.*91C>G (n.*91C>G)
c.48C>G
n.1275C>G
c.*579C>G (n.*579C>G)
c.899C>G (p.Thr300Arg)
c.884C>G (p.Thr295Arg)
c.881C>G (p.Thr294Arg)
c.794C>G (p.Thr265Arg)
c.713C>G (p.Thr238Arg)
c.809C>G (p.Thr270Arg)
c.-272C>G (n.-272C>G)
n.1307C>G
c.446C>G (p.Thr149Arg)
c.749C>G (p.Thr250Arg)
c.461C>G (p.Thr154Arg)
c.896C>G (p.Thr299Arg)
 COSMIC COSMIC
8g.71299061G=CA1792728309EYA1c.812C= (p.Thr271=)
c.710C= (p.Thr237=)
c.797C= (p.Thr266=)
c.*91C= (n.*91C=)
c.48C=
n.1275C=
c.*579C= (n.*579C=)
c.899C= (p.Thr300=)
c.884C= (p.Thr295=)
c.881C= (p.Thr294=)
c.794C= (p.Thr265=)
c.713C= (p.Thr238=)
c.809C= (p.Thr270=)
c.-272C= (n.-272C=)
n.1307C=
c.446C= (p.Thr149=)
c.749C= (p.Thr250=)
c.461C= (p.Thr154=)
c.896C= (p.Thr299=)
8g.71299061G>TCA371467099EYA1c.812C>A (p.Thr271Lys)
c.710C>A (p.Thr237Lys)
c.797C>A (p.Thr266Lys)
c.*91C>A (n.*91C>A)
c.48C>A
n.1275C>A
c.*579C>A (n.*579C>A)
c.899C>A (p.Thr300Lys)
c.884C>A (p.Thr295Lys)
c.881C>A (p.Thr294Lys)
c.794C>A (p.Thr265Lys)
c.713C>A (p.Thr238Lys)
c.809C>A (p.Thr270Lys)
c.-272C>A (n.-272C>A)
n.1307C>A
c.446C>A (p.Thr149Lys)
c.749C>A (p.Thr250Lys)
c.461C>A (p.Thr154Lys)
c.896C>A (p.Thr299Lys)
8g.71299062T>ACA371467100EYA1c.811A>T (p.Thr271Ser)
c.709A>T (p.Thr237Ser)
c.796A>T (p.Thr266Ser)
c.*90A>T (n.*90A>T)
c.47A>T
n.1274A>T
c.*578A>T (n.*578A>T)
c.898A>T (p.Thr300Ser)
c.883A>T (p.Thr295Ser)
c.880A>T (p.Thr294Ser)
c.793A>T (p.Thr265Ser)
c.712A>T (p.Thr238Ser)
c.808A>T (p.Thr270Ser)
c.-273A>T (n.-273A>T)
n.1306A>T
c.445A>T (p.Thr149Ser)
c.748A>T (p.Thr250Ser)
c.460A>T (p.Thr154Ser)
c.895A>T (p.Thr299Ser)
 ClinVar
8g.71299062T>CCA371467101EYA1c.811A>G (p.Thr271Ala)
c.709A>G (p.Thr237Ala)
c.796A>G (p.Thr266Ala)
c.*90A>G (n.*90A>G)
c.47A>G
n.1274A>G
c.*578A>G (n.*578A>G)
c.898A>G (p.Thr300Ala)
c.883A>G (p.Thr295Ala)
c.880A>G (p.Thr294Ala)
c.793A>G (p.Thr265Ala)
c.712A>G (p.Thr238Ala)
c.808A>G (p.Thr270Ala)
c.-273A>G (n.-273A>G)
n.1306A>G
c.445A>G (p.Thr149Ala)
c.748A>G (p.Thr250Ala)
c.460A>G (p.Thr154Ala)
c.895A>G (p.Thr299Ala)
 gnomAD v4
8g.71299062T>GCA371467102EYA1c.811A>C (p.Thr271Pro)
c.709A>C (p.Thr237Pro)
c.796A>C (p.Thr266Pro)
c.*90A>C (n.*90A>C)
c.47A>C
n.1274A>C
c.*578A>C (n.*578A>C)
c.898A>C (p.Thr300Pro)
c.883A>C (p.Thr295Pro)
c.880A>C (p.Thr294Pro)
c.793A>C (p.Thr265Pro)
c.712A>C (p.Thr238Pro)
c.808A>C (p.Thr270Pro)
c.-273A>C (n.-273A>C)
n.1306A>C
c.445A>C (p.Thr149Pro)
c.748A>C (p.Thr250Pro)
c.460A>C (p.Thr154Pro)
c.895A>C (p.Thr299Pro)
8g.71299063A>CCA461327819EYA1c.810T>G (p.Val270=)
c.708T>G (p.Val236=)
c.795T>G (p.Val265=)
c.*89T>G (n.*89T>G)
c.46T>G
n.1273T>G
c.*577T>G (n.*577T>G)
c.897T>G (p.Val299=)
c.882T>G (p.Val294=)
c.879T>G (p.Val293=)
c.792T>G (p.Val264=)
c.711T>G (p.Val237=)
c.807T>G (p.Val269=)
c.-274T>G (n.-274T>G)
n.1305T>G
c.444T>G (p.Val148=)
c.747T>G (p.Val249=)
c.459T>G (p.Val153=)
c.894T>G (p.Val298=)
8g.71299063A>GCA461327820EYA1c.810T>C (p.Val270=)
c.708T>C (p.Val236=)
c.795T>C (p.Val265=)
c.*89T>C (n.*89T>C)
c.46T>C
n.1273T>C
c.*577T>C (n.*577T>C)
c.897T>C (p.Val299=)
c.882T>C (p.Val294=)
c.879T>C (p.Val293=)
c.792T>C (p.Val264=)
c.711T>C (p.Val237=)
c.807T>C (p.Val269=)
c.-274T>C (n.-274T>C)
n.1305T>C
c.444T>C (p.Val148=)
c.747T>C (p.Val249=)
c.459T>C (p.Val153=)
c.894T>C (p.Val298=)
8g.71299063A>TCA461327821EYA1c.810T>A (p.Val270=)
c.708T>A (p.Val236=)
c.795T>A (p.Val265=)
c.*89T>A (n.*89T>A)
c.46T>A
n.1273T>A
c.*577T>A (n.*577T>A)
c.897T>A (p.Val299=)
c.882T>A (p.Val294=)
c.879T>A (p.Val293=)
c.792T>A (p.Val264=)
c.711T>A (p.Val237=)
c.807T>A (p.Val269=)
c.-274T>A (n.-274T>A)
n.1305T>A
c.444T>A (p.Val148=)
c.747T>A (p.Val249=)
c.459T>A (p.Val153=)
c.894T>A (p.Val298=)
8g.71299064A=CA1792728310EYA1c.809T= (p.Val270=)
c.707T= (p.Val236=)
c.794T= (p.Val265=)
c.*88T= (n.*88T=)
c.45T=
n.1272T=
c.*576T= (n.*576T=)
c.896T= (p.Val299=)
c.881T= (p.Val294=)
c.878T= (p.Val293=)
c.791T= (p.Val264=)
c.710T= (p.Val237=)
c.806T= (p.Val269=)
c.-275T= (n.-275T=)
n.1304T=
c.443T= (p.Val148=)
c.746T= (p.Val249=)
c.458T= (p.Val153=)
c.893T= (p.Val298=)
8g.71299064A>CCA371467103EYA1c.809T>G (p.Val270Gly)
c.707T>G (p.Val236Gly)
c.794T>G (p.Val265Gly)
c.*88T>G (n.*88T>G)
c.45T>G
n.1272T>G
c.*576T>G (n.*576T>G)
c.896T>G (p.Val299Gly)
c.881T>G (p.Val294Gly)
c.878T>G (p.Val293Gly)
c.791T>G (p.Val264Gly)
c.710T>G (p.Val237Gly)
c.806T>G (p.Val269Gly)
c.-275T>G (n.-275T>G)
n.1304T>G
c.443T>G (p.Val148Gly)
c.746T>G (p.Val249Gly)
c.458T>G (p.Val153Gly)
c.893T>G (p.Val298Gly)
 dbSNP gnomAD v4
8g.71299064A>GCA371467104EYA1c.809T>C (p.Val270Ala)
c.707T>C (p.Val236Ala)
c.794T>C (p.Val265Ala)
c.*88T>C (n.*88T>C)
c.45T>C
n.1272T>C
c.*576T>C (n.*576T>C)
c.896T>C (p.Val299Ala)
c.881T>C (p.Val294Ala)
c.878T>C (p.Val293Ala)
c.791T>C (p.Val264Ala)
c.710T>C (p.Val237Ala)
c.806T>C (p.Val269Ala)
c.-275T>C (n.-275T>C)
n.1304T>C
c.443T>C (p.Val148Ala)
c.746T>C (p.Val249Ala)
c.458T>C (p.Val153Ala)
c.893T>C (p.Val298Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71299064A>TCA371467105EYA1c.809T>A (p.Val270Asp)
c.707T>A (p.Val236Asp)
c.794T>A (p.Val265Asp)
c.*88T>A (n.*88T>A)
c.45T>A
n.1272T>A
c.*576T>A (n.*576T>A)
c.896T>A (p.Val299Asp)
c.881T>A (p.Val294Asp)
c.878T>A (p.Val293Asp)
c.791T>A (p.Val264Asp)
c.710T>A (p.Val237Asp)
c.806T>A (p.Val269Asp)
c.-275T>A (n.-275T>A)
n.1304T>A
c.443T>A (p.Val148Asp)
c.746T>A (p.Val249Asp)
c.458T>A (p.Val153Asp)
c.893T>A (p.Val298Asp)
8g.71299065C>ACA371467107EYA1c.808G>T (p.Val270Phe)
c.706G>T (p.Val236Phe)
c.793G>T (p.Val265Phe)
c.*87G>T (n.*87G>T)
c.44G>T
n.1271G>T
c.*575G>T (n.*575G>T)
c.895G>T (p.Val299Phe)
c.880G>T (p.Val294Phe)
c.877G>T (p.Val293Phe)
c.790G>T (p.Val264Phe)
c.709G>T (p.Val237Phe)
c.805G>T (p.Val269Phe)
c.-276G>T (n.-276G>T)
n.1303G>T
c.442G>T (p.Val148Phe)
c.745G>T (p.Val249Phe)
c.457G>T (p.Val153Phe)
c.892G>T (p.Val298Phe)
 gnomAD v4
8g.71299065C>GCA371467108EYA1c.808G>C (p.Val270Leu)
c.706G>C (p.Val236Leu)
c.793G>C (p.Val265Leu)
c.*87G>C (n.*87G>C)
c.44G>C
n.1271G>C
c.*575G>C (n.*575G>C)
c.895G>C (p.Val299Leu)
c.880G>C (p.Val294Leu)
c.877G>C (p.Val293Leu)
c.790G>C (p.Val264Leu)
c.709G>C (p.Val237Leu)
c.805G>C (p.Val269Leu)
c.-276G>C (n.-276G>C)
n.1303G>C
c.442G>C (p.Val148Leu)
c.745G>C (p.Val249Leu)
c.457G>C (p.Val153Leu)
c.892G>C (p.Val298Leu)
8g.71299065C>TCA371467106EYA1c.808G>A (p.Val270Ile)
c.706G>A (p.Val236Ile)
c.793G>A (p.Val265Ile)
c.*87G>A (n.*87G>A)
c.44G>A
n.1271G>A
c.*575G>A (n.*575G>A)
c.895G>A (p.Val299Ile)
c.880G>A (p.Val294Ile)
c.877G>A (p.Val293Ile)
c.790G>A (p.Val264Ile)
c.709G>A (p.Val237Ile)
c.805G>A (p.Val269Ile)
c.-276G>A (n.-276G>A)
n.1303G>A
c.442G>A (p.Val148Ile)
c.745G>A (p.Val249Ile)
c.457G>A (p.Val153Ile)
c.892G>A (p.Val298Ile)
 gnomAD v4
8g.71299066T>ACA461327822EYA1c.807A>T (p.Ala269=)
c.705A>T (p.Ala235=)
c.792A>T (p.Ala264=)
c.*86A>T (n.*86A>T)
c.43A>T
n.1270A>T
c.*574A>T (n.*574A>T)
c.894A>T (p.Ala298=)
c.879A>T (p.Ala293=)
c.876A>T (p.Ala292=)
c.789A>T (p.Ala263=)
c.708A>T (p.Ala236=)
c.804A>T (p.Ala268=)
c.-277A>T (n.-277A>T)
n.1302A>T
c.441A>T (p.Ala147=)
c.744A>T (p.Ala248=)
c.456A>T (p.Ala152=)
c.891A>T (p.Ala297=)
8g.71299066T>CCA461327823EYA1c.807A>G (p.Ala269=)
c.705A>G (p.Ala235=)
c.792A>G (p.Ala264=)
c.*86A>G (n.*86A>G)
c.43A>G
n.1270A>G
c.*574A>G (n.*574A>G)
c.894A>G (p.Ala298=)
c.879A>G (p.Ala293=)
c.876A>G (p.Ala292=)
c.789A>G (p.Ala263=)
c.708A>G (p.Ala236=)
c.804A>G (p.Ala268=)
c.-277A>G (n.-277A>G)
n.1302A>G
c.441A>G (p.Ala147=)
c.744A>G (p.Ala248=)
c.456A>G (p.Ala152=)
c.891A>G (p.Ala297=)
8g.71299066T>GCA461327824EYA1c.807A>C (p.Ala269=)
c.705A>C (p.Ala235=)
c.792A>C (p.Ala264=)
c.*86A>C (n.*86A>C)
c.43A>C
n.1270A>C
c.*574A>C (n.*574A>C)
c.894A>C (p.Ala298=)
c.879A>C (p.Ala293=)
c.876A>C (p.Ala292=)
c.789A>C (p.Ala263=)
c.708A>C (p.Ala236=)
c.804A>C (p.Ala268=)
c.-277A>C (n.-277A>C)
n.1302A>C
c.441A>C (p.Ala147=)
c.744A>C (p.Ala248=)
c.456A>C (p.Ala152=)
c.891A>C (p.Ala297=)
 COSMIC COSMIC
8g.71299066_71299067delinsTGCA1792728311EYA1c.806_807delinsCA (p.Ala269=)
c.704_705delinsCA (p.Ala235=)
c.791_792delinsCA (p.Ala264=)
c.*85_*86delinsCA (n.*85_*86delinsCA)
c.42_43delinsCA
n.1269_1270delinsCA
c.*573_*574delinsCA (n.*573_*574delinsCA)
c.893_894delinsCA (p.Ala298=)
c.878_879delinsCA (p.Ala293=)
c.875_876delinsCA (p.Ala292=)
c.788_789delinsCA (p.Ala263=)
c.707_708delinsCA (p.Ala236=)
c.803_804delinsCA (p.Ala268=)
c.-278_-277delinsCA (n.-278_-277delinsCA)
n.1301_1302delinsCA
c.440_441delinsCA (p.Ala147=)
c.743_744delinsCA (p.Ala248=)
c.455_456delinsCA (p.Ala152=)
c.890_891delinsCA (p.Ala297=)
8g.71299067delCA916082999EYA1c.806del (p.Ala269GlufsTer?)
c.704del (p.Ala235GlufsTer?)
c.791del (p.Ala264GlufsTer?)
c.*85del (n.*85del)
c.42del
n.1269del
c.*573del (n.*573del)
c.893del (p.Ala298GlufsTer?)
c.878del (p.Ala293GlufsTer?)
c.875del (p.Ala292GlufsTer?)
c.788del (p.Ala263GlufsTer?)
c.707del (p.Ala236GlufsTer?)
c.803del (p.Ala268GlufsTer?)
c.-278del (n.-278del)
n.1301del
c.440del (p.Ala147GlufsTer?)
c.743del (p.Ala248GlufsTer?)
c.455del (p.Ala152GlufsTer?)
c.890del (p.Ala297GlufsTer?)
 ClinVar dbSNP
8g.71299067G>ACA371467109EYA1c.806C>T (p.Ala269Val)
c.704C>T (p.Ala235Val)
c.791C>T (p.Ala264Val)
c.*85C>T (n.*85C>T)
c.42C>T
n.1269C>T
c.*573C>T (n.*573C>T)
c.893C>T (p.Ala298Val)
c.878C>T (p.Ala293Val)
c.875C>T (p.Ala292Val)
c.788C>T (p.Ala263Val)
c.707C>T (p.Ala236Val)
c.803C>T (p.Ala268Val)
c.-278C>T (n.-278C>T)
n.1301C>T
c.440C>T (p.Ala147Val)
c.743C>T (p.Ala248Val)
c.455C>T (p.Ala152Val)
c.890C>T (p.Ala297Val)
8g.71299067G>CCA371467110EYA1c.806C>G (p.Ala269Gly)
c.704C>G (p.Ala235Gly)
c.791C>G (p.Ala264Gly)
c.*85C>G (n.*85C>G)
c.42C>G
n.1269C>G
c.*573C>G (n.*573C>G)
c.893C>G (p.Ala298Gly)
c.878C>G (p.Ala293Gly)
c.875C>G (p.Ala292Gly)
c.788C>G (p.Ala263Gly)
c.707C>G (p.Ala236Gly)
c.803C>G (p.Ala268Gly)
c.-278C>G (n.-278C>G)
n.1301C>G
c.440C>G (p.Ala147Gly)
c.743C>G (p.Ala248Gly)
c.455C>G (p.Ala152Gly)
c.890C>G (p.Ala297Gly)
8g.71299067G=CA1792728312EYA1c.806C= (p.Ala269=)
c.704C= (p.Ala235=)
c.791C= (p.Ala264=)
c.*85C= (n.*85C=)
c.42C=
n.1269C=
c.*573C= (n.*573C=)
c.893C= (p.Ala298=)
c.878C= (p.Ala293=)
c.875C= (p.Ala292=)
c.788C= (p.Ala263=)
c.707C= (p.Ala236=)
c.803C= (p.Ala268=)
c.-278C= (n.-278C=)
n.1301C=
c.440C= (p.Ala147=)
c.743C= (p.Ala248=)
c.455C= (p.Ala152=)
c.890C= (p.Ala297=)
8g.71299067G>TCA4779663EYA1c.806C>A (p.Ala269Glu)
c.704C>A (p.Ala235Glu)
c.791C>A (p.Ala264Glu)
c.*85C>A (n.*85C>A)
c.42C>A
n.1269C>A
c.*573C>A (n.*573C>A)
c.893C>A (p.Ala298Glu)
c.878C>A (p.Ala293Glu)
c.875C>A (p.Ala292Glu)
c.788C>A (p.Ala263Glu)
c.707C>A (p.Ala236Glu)
c.803C>A (p.Ala268Glu)
c.-278C>A (n.-278C>A)
n.1301C>A
c.440C>A (p.Ala147Glu)
c.743C>A (p.Ala248Glu)
c.455C>A (p.Ala152Glu)
c.890C>A (p.Ala297Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299068C>ACA371467111EYA1c.805G>T (p.Ala269Ser)
c.703G>T (p.Ala235Ser)
c.790G>T (p.Ala264Ser)
c.*84G>T (n.*84G>T)
c.41G>T
n.1268G>T
c.*572G>T (n.*572G>T)
c.892G>T (p.Ala298Ser)
c.877G>T (p.Ala293Ser)
c.874G>T (p.Ala292Ser)
c.787G>T (p.Ala263Ser)
c.706G>T (p.Ala236Ser)
c.802G>T (p.Ala268Ser)
c.-279G>T (n.-279G>T)
n.1300G>T
c.439G>T (p.Ala147Ser)
c.742G>T (p.Ala248Ser)
c.454G>T (p.Ala152Ser)
c.889G>T (p.Ala297Ser)
8g.71299068C>GCA371467112EYA1c.805G>C (p.Ala269Pro)
c.703G>C (p.Ala235Pro)
c.790G>C (p.Ala264Pro)
c.*84G>C (n.*84G>C)
c.41G>C
n.1268G>C
c.*572G>C (n.*572G>C)
c.892G>C (p.Ala298Pro)
c.877G>C (p.Ala293Pro)
c.874G>C (p.Ala292Pro)
c.787G>C (p.Ala263Pro)
c.706G>C (p.Ala236Pro)
c.802G>C (p.Ala268Pro)
c.-279G>C (n.-279G>C)
n.1300G>C
c.439G>C (p.Ala147Pro)
c.742G>C (p.Ala248Pro)
c.454G>C (p.Ala152Pro)
c.889G>C (p.Ala297Pro)
8g.71299068C>TCA371467113EYA1c.805G>A (p.Ala269Thr)
c.703G>A (p.Ala235Thr)
c.790G>A (p.Ala264Thr)
c.*84G>A (n.*84G>A)
c.41G>A
n.1268G>A
c.*572G>A (n.*572G>A)
c.892G>A (p.Ala298Thr)
c.877G>A (p.Ala293Thr)
c.874G>A (p.Ala292Thr)
c.787G>A (p.Ala263Thr)
c.706G>A (p.Ala236Thr)
c.802G>A (p.Ala268Thr)
c.-279G>A (n.-279G>A)
n.1300G>A
c.439G>A (p.Ala147Thr)
c.742G>A (p.Ala248Thr)
c.454G>A (p.Ala152Thr)
c.889G>A (p.Ala297Thr)
8g.71299069T>ACA371467114EYA1c.804A>T (p.Gln268His)
c.702A>T (p.Gln234His)
c.789A>T (p.Gln263His)
c.*83A>T (n.*83A>T)
c.40A>T
n.1267A>T
c.*571A>T (n.*571A>T)
c.891A>T (p.Gln297His)
c.876A>T (p.Gln292His)
c.873A>T (p.Gln291His)
c.786A>T (p.Gln262His)
c.705A>T (p.Gln235His)
c.801A>T (p.Gln267His)
c.-280A>T (n.-280A>T)
n.1299A>T
c.438A>T (p.Gln146His)
c.741A>T (p.Gln247His)
c.453A>T (p.Gln151His)
c.888A>T (p.Gln296His)
8g.71299069T>CCA461327825EYA1c.804A>G (p.Gln268=)
c.702A>G (p.Gln234=)
c.789A>G (p.Gln263=)
c.*83A>G (n.*83A>G)
c.40A>G
n.1267A>G
c.*571A>G (n.*571A>G)
c.891A>G (p.Gln297=)
c.876A>G (p.Gln292=)
c.873A>G (p.Gln291=)
c.786A>G (p.Gln262=)
c.705A>G (p.Gln235=)
c.801A>G (p.Gln267=)
c.-280A>G (n.-280A>G)
n.1299A>G
c.438A>G (p.Gln146=)
c.741A>G (p.Gln247=)
c.453A>G (p.Gln151=)
c.888A>G (p.Gln296=)
 dbSNP gnomAD v2
8g.71299069T>GCA371467115EYA1c.804A>C (p.Gln268His)
c.702A>C (p.Gln234His)
c.789A>C (p.Gln263His)
c.*83A>C (n.*83A>C)
c.40A>C
n.1267A>C
c.*571A>C (n.*571A>C)
c.891A>C (p.Gln297His)
c.876A>C (p.Gln292His)
c.873A>C (p.Gln291His)
c.786A>C (p.Gln262His)
c.705A>C (p.Gln235His)
c.801A>C (p.Gln267His)
c.-280A>C (n.-280A>C)
n.1299A>C
c.438A>C (p.Gln146His)
c.741A>C (p.Gln247His)
c.453A>C (p.Gln151His)
c.888A>C (p.Gln296His)
8g.71299069T=CA1792728313EYA1c.804A= (p.Gln268=)
c.702A= (p.Gln234=)
c.789A= (p.Gln263=)
c.*83A= (n.*83A=)
c.40A=
n.1267A=
c.*571A= (n.*571A=)
c.891A= (p.Gln297=)
c.876A= (p.Gln292=)
c.873A= (p.Gln291=)
c.786A= (p.Gln262=)
c.705A= (p.Gln235=)
c.801A= (p.Gln267=)
c.-280A= (n.-280A=)
n.1299A=
c.438A= (p.Gln146=)
c.741A= (p.Gln247=)
c.453A= (p.Gln151=)
c.888A= (p.Gln296=)
8g.71299070T>ACA371467116EYA1c.803A>T (p.Gln268Leu)
c.701A>T (p.Gln234Leu)
c.788A>T (p.Gln263Leu)
c.*82A>T (n.*82A>T)
c.39A>T
n.1266A>T
c.*570A>T (n.*570A>T)
c.890A>T (p.Gln297Leu)
c.875A>T (p.Gln292Leu)
c.872A>T (p.Gln291Leu)
c.785A>T (p.Gln262Leu)
c.704A>T (p.Gln235Leu)
c.800A>T (p.Gln267Leu)
c.-281A>T (n.-281A>T)
n.1298A>T
c.437A>T (p.Gln146Leu)
c.740A>T (p.Gln247Leu)
c.452A>T (p.Gln151Leu)
c.887A>T (p.Gln296Leu)
8g.71299070T>CCA371467117EYA1c.803A>G (p.Gln268Arg)
c.701A>G (p.Gln234Arg)
c.788A>G (p.Gln263Arg)
c.*82A>G (n.*82A>G)
c.39A>G
n.1266A>G
c.*570A>G (n.*570A>G)
c.890A>G (p.Gln297Arg)
c.875A>G (p.Gln292Arg)
c.872A>G (p.Gln291Arg)
c.785A>G (p.Gln262Arg)
c.704A>G (p.Gln235Arg)
c.800A>G (p.Gln267Arg)
c.-281A>G (n.-281A>G)
n.1298A>G
c.437A>G (p.Gln146Arg)
c.740A>G (p.Gln247Arg)
c.452A>G (p.Gln151Arg)
c.887A>G (p.Gln296Arg)
8g.71299070T>GCA371467118EYA1c.803A>C (p.Gln268Pro)
c.701A>C (p.Gln234Pro)
c.788A>C (p.Gln263Pro)
c.*82A>C (n.*82A>C)
c.39A>C
n.1266A>C
c.*570A>C (n.*570A>C)
c.890A>C (p.Gln297Pro)
c.875A>C (p.Gln292Pro)
c.872A>C (p.Gln291Pro)
c.785A>C (p.Gln262Pro)
c.704A>C (p.Gln235Pro)
c.800A>C (p.Gln267Pro)
c.-281A>C (n.-281A>C)
n.1298A>C
c.437A>C (p.Gln146Pro)
c.740A>C (p.Gln247Pro)
c.452A>C (p.Gln151Pro)
c.887A>C (p.Gln296Pro)
8g.71299071G>ACA371467119EYA1c.802C>T (p.Gln268Ter)
c.700C>T (p.Gln234Ter)
c.787C>T (p.Gln263Ter)
c.*81C>T (n.*81C>T)
c.38C>T
n.1265C>T
c.*569C>T (n.*569C>T)
c.889C>T (p.Gln297Ter)
c.874C>T (p.Gln292Ter)
c.871C>T (p.Gln291Ter)
c.784C>T (p.Gln262Ter)
c.703C>T (p.Gln235Ter)
c.799C>T (p.Gln267Ter)
c.-282C>T (n.-282C>T)
n.1297C>T
c.436C>T (p.Gln146Ter)
c.739C>T (p.Gln247Ter)
c.451C>T (p.Gln151Ter)
c.886C>T (p.Gln296Ter)
8g.71299071G>CCA371467120EYA1c.802C>G (p.Gln268Glu)
c.700C>G (p.Gln234Glu)
c.787C>G (p.Gln263Glu)
c.*81C>G (n.*81C>G)
c.38C>G
n.1265C>G
c.*569C>G (n.*569C>G)
c.889C>G (p.Gln297Glu)
c.874C>G (p.Gln292Glu)
c.871C>G (p.Gln291Glu)
c.784C>G (p.Gln262Glu)
c.703C>G (p.Gln235Glu)
c.799C>G (p.Gln267Glu)
c.-282C>G (n.-282C>G)
n.1297C>G
c.436C>G (p.Gln146Glu)
c.739C>G (p.Gln247Glu)
c.451C>G (p.Gln151Glu)
c.886C>G (p.Gln296Glu)
8g.71299071G>TCA371467121EYA1c.802C>A (p.Gln268Lys)
c.700C>A (p.Gln234Lys)
c.787C>A (p.Gln263Lys)
c.*81C>A (n.*81C>A)
c.38C>A
n.1265C>A
c.*569C>A (n.*569C>A)
c.889C>A (p.Gln297Lys)
c.874C>A (p.Gln292Lys)
c.871C>A (p.Gln291Lys)
c.784C>A (p.Gln262Lys)
c.703C>A (p.Gln235Lys)
c.799C>A (p.Gln267Lys)
c.-282C>A (n.-282C>A)
n.1297C>A
c.436C>A (p.Gln146Lys)
c.739C>A (p.Gln247Lys)
c.451C>A (p.Gln151Lys)
c.886C>A (p.Gln296Lys)
8g.71299072G>ACA461327826EYA1c.801C>T (p.Ser267=)
c.699C>T (p.Ser233=)
c.786C>T (p.Ser262=)
c.*80C>T (n.*80C>T)
c.37C>T
n.1264C>T
c.*568C>T (n.*568C>T)
c.888C>T (p.Ser296=)
c.873C>T (p.Ser291=)
c.870C>T (p.Ser290=)
c.783C>T (p.Ser261=)
c.702C>T (p.Ser234=)
c.798C>T (p.Ser266=)
c.-283C>T (n.-283C>T)
n.1296C>T
c.435C>T (p.Ser145=)
c.738C>T (p.Ser246=)
c.450C>T (p.Ser150=)
c.885C>T (p.Ser295=)
 gnomAD v4
8g.71299072G>CCA371467122EYA1c.801C>G (p.Ser267Arg)
c.699C>G (p.Ser233Arg)
c.786C>G (p.Ser262Arg)
c.*80C>G (n.*80C>G)
c.37C>G
n.1264C>G
c.*568C>G (n.*568C>G)
c.888C>G (p.Ser296Arg)
c.873C>G (p.Ser291Arg)
c.870C>G (p.Ser290Arg)
c.783C>G (p.Ser261Arg)
c.702C>G (p.Ser234Arg)
c.798C>G (p.Ser266Arg)
c.-283C>G (n.-283C>G)
n.1296C>G
c.435C>G (p.Ser145Arg)
c.738C>G (p.Ser246Arg)
c.450C>G (p.Ser150Arg)
c.885C>G (p.Ser295Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71299072G=CA1792728314EYA1c.801C= (p.Ser267=)
c.699C= (p.Ser233=)
c.786C= (p.Ser262=)
c.*80C= (n.*80C=)
c.37C=
n.1264C=
c.*568C= (n.*568C=)
c.888C= (p.Ser296=)
c.873C= (p.Ser291=)
c.870C= (p.Ser290=)
c.783C= (p.Ser261=)
c.702C= (p.Ser234=)
c.798C= (p.Ser266=)
c.-283C= (n.-283C=)
n.1296C=
c.435C= (p.Ser145=)
c.738C= (p.Ser246=)
c.450C= (p.Ser150=)
c.885C= (p.Ser295=)
8g.71299072G>TCA371467123EYA1c.801C>A (p.Ser267Arg)
c.699C>A (p.Ser233Arg)
c.786C>A (p.Ser262Arg)
c.*80C>A (n.*80C>A)
c.37C>A
n.1264C>A
c.*568C>A (n.*568C>A)
c.888C>A (p.Ser296Arg)
c.873C>A (p.Ser291Arg)
c.870C>A (p.Ser290Arg)
c.783C>A (p.Ser261Arg)
c.702C>A (p.Ser234Arg)
c.798C>A (p.Ser266Arg)
c.-283C>A (n.-283C>A)
n.1296C>A
c.435C>A (p.Ser145Arg)
c.738C>A (p.Ser246Arg)
c.450C>A (p.Ser150Arg)
c.885C>A (p.Ser295Arg)
8g.71299073C>ACA371467124EYA1c.800G>T (p.Ser267Ile)
c.698G>T (p.Ser233Ile)
c.785G>T (p.Ser262Ile)
c.*79G>T (n.*79G>T)
c.36G>T
n.1263G>T
c.*567G>T (n.*567G>T)
c.887G>T (p.Ser296Ile)
c.872G>T (p.Ser291Ile)
c.869G>T (p.Ser290Ile)
c.782G>T (p.Ser261Ile)
c.701G>T (p.Ser234Ile)
c.797G>T (p.Ser266Ile)
c.-284G>T (n.-284G>T)
n.1295G>T
c.434G>T (p.Ser145Ile)
c.737G>T (p.Ser246Ile)
c.449G>T (p.Ser150Ile)
c.884G>T (p.Ser295Ile)
8g.71299073C>GCA371467125EYA1c.800G>C (p.Ser267Thr)
c.698G>C (p.Ser233Thr)
c.785G>C (p.Ser262Thr)
c.*79G>C (n.*79G>C)
c.36G>C
n.1263G>C
c.*567G>C (n.*567G>C)
c.887G>C (p.Ser296Thr)
c.872G>C (p.Ser291Thr)
c.869G>C (p.Ser290Thr)
c.782G>C (p.Ser261Thr)
c.701G>C (p.Ser234Thr)
c.797G>C (p.Ser266Thr)
c.-284G>C (n.-284G>C)
n.1295G>C
c.434G>C (p.Ser145Thr)
c.737G>C (p.Ser246Thr)
c.449G>C (p.Ser150Thr)
c.884G>C (p.Ser295Thr)
8g.71299073C>TCA371467126EYA1c.800G>A (p.Ser267Asn)
c.698G>A (p.Ser233Asn)
c.785G>A (p.Ser262Asn)
c.*79G>A (n.*79G>A)
c.36G>A
n.1263G>A
c.*567G>A (n.*567G>A)
c.887G>A (p.Ser296Asn)
c.872G>A (p.Ser291Asn)
c.869G>A (p.Ser290Asn)
c.782G>A (p.Ser261Asn)
c.701G>A (p.Ser234Asn)
c.797G>A (p.Ser266Asn)
c.-284G>A (n.-284G>A)
n.1295G>A
c.434G>A (p.Ser145Asn)
c.737G>A (p.Ser246Asn)
c.449G>A (p.Ser150Asn)
c.884G>A (p.Ser295Asn)
 gnomAD v4 COSMIC COSMIC
8g.71299074T>ACA371467127EYA1c.799A>T (p.Ser267Cys)
c.697A>T (p.Ser233Cys)
c.784A>T (p.Ser262Cys)
c.*78A>T (n.*78A>T)
c.35A>T
n.1262A>T
c.*566A>T (n.*566A>T)
c.886A>T (p.Ser296Cys)
c.871A>T (p.Ser291Cys)
c.868A>T (p.Ser290Cys)
c.781A>T (p.Ser261Cys)
c.700A>T (p.Ser234Cys)
c.796A>T (p.Ser266Cys)
c.-285A>T (n.-285A>T)
n.1294A>T
c.433A>T (p.Ser145Cys)
c.736A>T (p.Ser246Cys)
c.448A>T (p.Ser150Cys)
c.883A>T (p.Ser295Cys)
8g.71299074T>CCA4779664EYA1c.799A>G (p.Ser267Gly)
c.697A>G (p.Ser233Gly)
c.784A>G (p.Ser262Gly)
c.*78A>G (n.*78A>G)
c.35A>G
n.1262A>G
c.*566A>G (n.*566A>G)
c.886A>G (p.Ser296Gly)
c.871A>G (p.Ser291Gly)
c.868A>G (p.Ser290Gly)
c.781A>G (p.Ser261Gly)
c.700A>G (p.Ser234Gly)
c.796A>G (p.Ser266Gly)
c.-285A>G (n.-285A>G)
n.1294A>G
c.433A>G (p.Ser145Gly)
c.736A>G (p.Ser246Gly)
c.448A>G (p.Ser150Gly)
c.883A>G (p.Ser295Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.71299074T>GCA371467128EYA1c.799A>C (p.Ser267Arg)
c.697A>C (p.Ser233Arg)
c.784A>C (p.Ser262Arg)
c.*78A>C (n.*78A>C)
c.35A>C
n.1262A>C
c.*566A>C (n.*566A>C)
c.886A>C (p.Ser296Arg)
c.871A>C (p.Ser291Arg)
c.868A>C (p.Ser290Arg)
c.781A>C (p.Ser261Arg)
c.700A>C (p.Ser234Arg)
c.796A>C (p.Ser266Arg)
c.-285A>C (n.-285A>C)
n.1294A>C
c.433A>C (p.Ser145Arg)
c.736A>C (p.Ser246Arg)
c.448A>C (p.Ser150Arg)
c.883A>C (p.Ser295Arg)
8g.71299074T=CA1792728315EYA1c.799A= (p.Ser267=)
c.697A= (p.Ser233=)
c.784A= (p.Ser262=)
c.*78A= (n.*78A=)
c.35A=
n.1262A=
c.*566A= (n.*566A=)
c.886A= (p.Ser296=)
c.871A= (p.Ser291=)
c.868A= (p.Ser290=)
c.781A= (p.Ser261=)
c.700A= (p.Ser234=)
c.796A= (p.Ser266=)
c.-285A= (n.-285A=)
n.1294A=
c.433A= (p.Ser145=)
c.736A= (p.Ser246=)
c.448A= (p.Ser150=)
c.883A= (p.Ser295=)
8g.71299075G>ACA461327827EYA1c.798C>T (p.Thr266=)
c.696C>T (p.Thr232=)
c.783C>T (p.Thr261=)
c.*77C>T (n.*77C>T)
c.34C>T
n.1261C>T
c.*565C>T (n.*565C>T)
c.885C>T (p.Thr295=)
c.870C>T (p.Thr290=)
c.867C>T (p.Thr289=)
c.780C>T (p.Thr260=)
c.699C>T (p.Thr233=)
c.795C>T (p.Thr265=)
c.-286C>T (n.-286C>T)
n.1293C>T
c.432C>T (p.Thr144=)
c.735C>T (p.Thr245=)
c.447C>T (p.Thr149=)
c.882C>T (p.Thr294=)
 dbSNP
8g.71299075G>CCA461327828EYA1c.798C>G (p.Thr266=)
c.696C>G (p.Thr232=)
c.783C>G (p.Thr261=)
c.*77C>G (n.*77C>G)
c.34C>G
n.1261C>G
c.*565C>G (n.*565C>G)
c.885C>G (p.Thr295=)
c.870C>G (p.Thr290=)
c.867C>G (p.Thr289=)
c.780C>G (p.Thr260=)
c.699C>G (p.Thr233=)
c.795C>G (p.Thr265=)
c.-286C>G (n.-286C>G)
n.1293C>G
c.432C>G (p.Thr144=)
c.735C>G (p.Thr245=)
c.447C>G (p.Thr149=)
c.882C>G (p.Thr294=)
8g.71299075G=CA1792728316EYA1c.798C= (p.Thr266=)
c.696C= (p.Thr232=)
c.783C= (p.Thr261=)
c.*77C= (n.*77C=)
c.34C=
n.1261C=
c.*565C= (n.*565C=)
c.885C= (p.Thr295=)
c.870C= (p.Thr290=)
c.867C= (p.Thr289=)
c.780C= (p.Thr260=)
c.699C= (p.Thr233=)
c.795C= (p.Thr265=)
c.-286C= (n.-286C=)
n.1293C=
c.432C= (p.Thr144=)
c.735C= (p.Thr245=)
c.447C= (p.Thr149=)
c.882C= (p.Thr294=)
8g.71299075G>TCA461327829EYA1c.798C>A (p.Thr266=)
c.696C>A (p.Thr232=)
c.783C>A (p.Thr261=)
c.*77C>A (n.*77C>A)
c.34C>A
n.1261C>A
c.*565C>A (n.*565C>A)
c.885C>A (p.Thr295=)
c.870C>A (p.Thr290=)
c.867C>A (p.Thr289=)
c.780C>A (p.Thr260=)
c.699C>A (p.Thr233=)
c.795C>A (p.Thr265=)
c.-286C>A (n.-286C>A)
n.1293C>A
c.432C>A (p.Thr144=)
c.735C>A (p.Thr245=)
c.447C>A (p.Thr149=)
c.882C>A (p.Thr294=)
8g.71299076G>ACA371467129EYA1c.797C>T (p.Thr266Ile)
c.695C>T (p.Thr232Ile)
c.782C>T (p.Thr261Ile)
c.*76C>T (n.*76C>T)
c.33C>T
n.1260C>T
c.*564C>T (n.*564C>T)
c.884C>T (p.Thr295Ile)
c.869C>T (p.Thr290Ile)
c.866C>T (p.Thr289Ile)
c.779C>T (p.Thr260Ile)
c.698C>T (p.Thr233Ile)
c.794C>T (p.Thr265Ile)
c.-287C>T (n.-287C>T)
n.1292C>T
c.431C>T (p.Thr144Ile)
c.734C>T (p.Thr245Ile)
c.446C>T (p.Thr149Ile)
c.881C>T (p.Thr294Ile)
8g.71299076G>CCA371467130EYA1c.797C>G (p.Thr266Ser)
c.695C>G (p.Thr232Ser)
c.782C>G (p.Thr261Ser)
c.*76C>G (n.*76C>G)
c.33C>G
n.1260C>G
c.*564C>G (n.*564C>G)
c.884C>G (p.Thr295Ser)
c.869C>G (p.Thr290Ser)
c.866C>G (p.Thr289Ser)
c.779C>G (p.Thr260Ser)
c.698C>G (p.Thr233Ser)
c.794C>G (p.Thr265Ser)
c.-287C>G (n.-287C>G)
n.1292C>G
c.431C>G (p.Thr144Ser)
c.734C>G (p.Thr245Ser)
c.446C>G (p.Thr149Ser)
c.881C>G (p.Thr294Ser)
 dbSNP
8g.71299076G=CA1792728317EYA1c.797C= (p.Thr266=)
c.695C= (p.Thr232=)
c.782C= (p.Thr261=)
c.*76C= (n.*76C=)
c.33C=
n.1260C=
c.*564C= (n.*564C=)
c.884C= (p.Thr295=)
c.869C= (p.Thr290=)
c.866C= (p.Thr289=)
c.779C= (p.Thr260=)
c.698C= (p.Thr233=)
c.794C= (p.Thr265=)
c.-287C= (n.-287C=)
n.1292C=
c.431C= (p.Thr144=)
c.734C= (p.Thr245=)
c.446C= (p.Thr149=)
c.881C= (p.Thr294=)
8g.71299076G>TCA371467131EYA1c.797C>A (p.Thr266Asn)
c.695C>A (p.Thr232Asn)
c.782C>A (p.Thr261Asn)
c.*76C>A (n.*76C>A)
c.33C>A
n.1260C>A
c.*564C>A (n.*564C>A)
c.884C>A (p.Thr295Asn)
c.869C>A (p.Thr290Asn)
c.866C>A (p.Thr289Asn)
c.779C>A (p.Thr260Asn)
c.698C>A (p.Thr233Asn)
c.794C>A (p.Thr265Asn)
c.-287C>A (n.-287C>A)
n.1292C>A
c.431C>A (p.Thr144Asn)
c.734C>A (p.Thr245Asn)
c.446C>A (p.Thr149Asn)
c.881C>A (p.Thr294Asn)
8g.71299077T>ACA371467132EYA1c.796A>T (p.Thr266Ser)
c.694A>T (p.Thr232Ser)
c.781A>T (p.Thr261Ser)
c.*75A>T (n.*75A>T)
c.32A>T
n.1259A>T
c.*563A>T (n.*563A>T)
c.883A>T (p.Thr295Ser)
c.868A>T (p.Thr290Ser)
c.865A>T (p.Thr289Ser)
c.778A>T (p.Thr260Ser)
c.697A>T (p.Thr233Ser)
c.793A>T (p.Thr265Ser)
c.-288A>T (n.-288A>T)
n.1291A>T
c.430A>T (p.Thr144Ser)
c.733A>T (p.Thr245Ser)
c.445A>T (p.Thr149Ser)
c.880A>T (p.Thr294Ser)
8g.71299077T>CCA371467133EYA1c.796A>G (p.Thr266Ala)
c.694A>G (p.Thr232Ala)
c.781A>G (p.Thr261Ala)
c.*75A>G (n.*75A>G)
c.32A>G
n.1259A>G
c.*563A>G (n.*563A>G)
c.883A>G (p.Thr295Ala)
c.868A>G (p.Thr290Ala)
c.865A>G (p.Thr289Ala)
c.778A>G (p.Thr260Ala)
c.697A>G (p.Thr233Ala)
c.793A>G (p.Thr265Ala)
c.-288A>G (n.-288A>G)
n.1291A>G
c.430A>G (p.Thr144Ala)
c.733A>G (p.Thr245Ala)
c.445A>G (p.Thr149Ala)
c.880A>G (p.Thr294Ala)
 gnomAD v4
8g.71299077T>GCA371467134EYA1c.796A>C (p.Thr266Pro)
c.694A>C (p.Thr232Pro)
c.781A>C (p.Thr261Pro)
c.*75A>C (n.*75A>C)
c.32A>C
n.1259A>C
c.*563A>C (n.*563A>C)
c.883A>C (p.Thr295Pro)
c.868A>C (p.Thr290Pro)
c.865A>C (p.Thr289Pro)
c.778A>C (p.Thr260Pro)
c.697A>C (p.Thr233Pro)
c.793A>C (p.Thr265Pro)
c.-288A>C (n.-288A>C)
n.1291A>C
c.430A>C (p.Thr144Pro)
c.733A>C (p.Thr245Pro)
c.445A>C (p.Thr149Pro)
c.880A>C (p.Thr294Pro)
8g.71299078G>ACA461327830EYA1c.795C>T (p.Ile265=)
c.693C>T (p.Ile231=)
c.780C>T (p.Ile260=)
c.*74C>T (n.*74C>T)
c.31C>T
n.1258C>T
c.*562C>T (n.*562C>T)
c.882C>T (p.Ile294=)
c.867C>T (p.Ile289=)
c.864C>T (p.Ile288=)
c.777C>T (p.Ile259=)
c.696C>T (p.Ile232=)
c.792C>T (p.Ile264=)
c.-289C>T (n.-289C>T)
n.1290C>T
c.429C>T (p.Ile143=)
c.732C>T (p.Ile244=)
c.444C>T (p.Ile148=)
c.879C>T (p.Ile293=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71299078G>CCA371467135EYA1c.795C>G (p.Ile265Met)
c.693C>G (p.Ile231Met)
c.780C>G (p.Ile260Met)
c.*74C>G (n.*74C>G)
c.31C>G
n.1258C>G
c.*562C>G (n.*562C>G)
c.882C>G (p.Ile294Met)
c.867C>G (p.Ile289Met)
c.864C>G (p.Ile288Met)
c.777C>G (p.Ile259Met)
c.696C>G (p.Ile232Met)
c.792C>G (p.Ile264Met)
c.-289C>G (n.-289C>G)
n.1290C>G
c.429C>G (p.Ile143Met)
c.732C>G (p.Ile244Met)
c.444C>G (p.Ile148Met)
c.879C>G (p.Ile293Met)
8g.71299078G=CA1792728318EYA1c.795C= (p.Ile265=)
c.693C= (p.Ile231=)
c.780C= (p.Ile260=)
c.*74C= (n.*74C=)
c.31C=
n.1258C=
c.*562C= (n.*562C=)
c.882C= (p.Ile294=)
c.867C= (p.Ile289=)
c.864C= (p.Ile288=)
c.777C= (p.Ile259=)
c.696C= (p.Ile232=)
c.792C= (p.Ile264=)
c.-289C= (n.-289C=)
n.1290C=
c.429C= (p.Ile143=)
c.732C= (p.Ile244=)
c.444C= (p.Ile148=)
c.879C= (p.Ile293=)
8g.71299078G>TCA461327831EYA1c.795C>A (p.Ile265=)
c.693C>A (p.Ile231=)
c.780C>A (p.Ile260=)
c.*74C>A (n.*74C>A)
c.31C>A
n.1258C>A
c.*562C>A (n.*562C>A)
c.882C>A (p.Ile294=)
c.867C>A (p.Ile289=)
c.864C>A (p.Ile288=)
c.777C>A (p.Ile259=)
c.696C>A (p.Ile232=)
c.792C>A (p.Ile264=)
c.-289C>A (n.-289C>A)
n.1290C>A
c.429C>A (p.Ile143=)
c.732C>A (p.Ile244=)
c.444C>A (p.Ile148=)
c.879C>A (p.Ile293=)
8g.71299079A>CCA371467138EYA1c.794T>G (p.Ile265Ser)
c.692T>G (p.Ile231Ser)
c.779T>G (p.Ile260Ser)
c.*73T>G (n.*73T>G)
c.30T>G
n.1257T>G
c.*561T>G (n.*561T>G)
c.881T>G (p.Ile294Ser)
c.866T>G (p.Ile289Ser)
c.863T>G (p.Ile288Ser)
c.776T>G (p.Ile259Ser)
c.695T>G (p.Ile232Ser)
c.791T>G (p.Ile264Ser)
c.-290T>G (n.-290T>G)
n.1289T>G
c.428T>G (p.Ile143Ser)
c.731T>G (p.Ile244Ser)
c.443T>G (p.Ile148Ser)
c.878T>G (p.Ile293Ser)
8g.71299079A>GCA371467136EYA1c.794T>C (p.Ile265Thr)
c.692T>C (p.Ile231Thr)
c.779T>C (p.Ile260Thr)
c.*73T>C (n.*73T>C)
c.30T>C
n.1257T>C
c.*561T>C (n.*561T>C)
c.881T>C (p.Ile294Thr)
c.866T>C (p.Ile289Thr)
c.863T>C (p.Ile288Thr)
c.776T>C (p.Ile259Thr)
c.695T>C (p.Ile232Thr)
c.791T>C (p.Ile264Thr)
c.-290T>C (n.-290T>C)
n.1289T>C
c.428T>C (p.Ile143Thr)
c.731T>C (p.Ile244Thr)
c.443T>C (p.Ile148Thr)
c.878T>C (p.Ile293Thr)
 COSMIC COSMIC
8g.71299079A>TCA371467137EYA1c.794T>A (p.Ile265Asn)
c.692T>A (p.Ile231Asn)
c.779T>A (p.Ile260Asn)
c.*73T>A (n.*73T>A)
c.30T>A
n.1257T>A
c.*561T>A (n.*561T>A)
c.881T>A (p.Ile294Asn)
c.866T>A (p.Ile289Asn)
c.863T>A (p.Ile288Asn)
c.776T>A (p.Ile259Asn)
c.695T>A (p.Ile232Asn)
c.791T>A (p.Ile264Asn)
c.-290T>A (n.-290T>A)
n.1289T>A
c.428T>A (p.Ile143Asn)
c.731T>A (p.Ile244Asn)
c.443T>A (p.Ile148Asn)
c.878T>A (p.Ile293Asn)
8g.71299080T>ACA371467139EYA1c.793A>T (p.Ile265Phe)
c.691A>T (p.Ile231Phe)
c.778A>T (p.Ile260Phe)
c.*72A>T (n.*72A>T)
c.29A>T
n.1256A>T
c.*560A>T (n.*560A>T)
c.880A>T (p.Ile294Phe)
c.865A>T (p.Ile289Phe)
c.862A>T (p.Ile288Phe)
c.775A>T (p.Ile259Phe)
c.694A>T (p.Ile232Phe)
c.790A>T (p.Ile264Phe)
c.-291A>T (n.-291A>T)
n.1288A>T
c.427A>T (p.Ile143Phe)
c.730A>T (p.Ile244Phe)
c.442A>T (p.Ile148Phe)
c.877A>T (p.Ile293Phe)
8g.71299080T>CCA371467140EYA1c.793A>G (p.Ile265Val)
c.691A>G (p.Ile231Val)
c.778A>G (p.Ile260Val)
c.*72A>G (n.*72A>G)
c.29A>G
n.1256A>G
c.*560A>G (n.*560A>G)
c.880A>G (p.Ile294Val)
c.865A>G (p.Ile289Val)
c.862A>G (p.Ile288Val)
c.775A>G (p.Ile259Val)
c.694A>G (p.Ile232Val)
c.790A>G (p.Ile264Val)
c.-291A>G (n.-291A>G)
n.1288A>G
c.427A>G (p.Ile143Val)
c.730A>G (p.Ile244Val)
c.442A>G (p.Ile148Val)
c.877A>G (p.Ile293Val)
8g.71299080T>GCA371467141EYA1c.793A>C (p.Ile265Leu)
c.691A>C (p.Ile231Leu)
c.778A>C (p.Ile260Leu)
c.*72A>C (n.*72A>C)
c.29A>C
n.1256A>C
c.*560A>C (n.*560A>C)
c.880A>C (p.Ile294Leu)
c.865A>C (p.Ile289Leu)
c.862A>C (p.Ile288Leu)
c.775A>C (p.Ile259Leu)
c.694A>C (p.Ile232Leu)
c.790A>C (p.Ile264Leu)
c.-291A>C (n.-291A>C)
n.1288A>C
c.427A>C (p.Ile143Leu)
c.730A>C (p.Ile244Leu)
c.442A>C (p.Ile148Leu)
c.877A>C (p.Ile293Leu)
 dbSNP
8g.71299080T=CA1792728319EYA1c.793A= (p.Ile265=)
c.691A= (p.Ile231=)
c.778A= (p.Ile260=)
c.*72A= (n.*72A=)
c.29A=
n.1256A=
c.*560A= (n.*560A=)
c.880A= (p.Ile294=)
c.865A= (p.Ile289=)
c.862A= (p.Ile288=)
c.775A= (p.Ile259=)
c.694A= (p.Ile232=)
c.790A= (p.Ile264=)
c.-291A= (n.-291A=)
n.1288A=
c.427A= (p.Ile143=)
c.730A= (p.Ile244=)
c.442A= (p.Ile148=)
c.877A= (p.Ile293=)
8g.71299081G>ACA461327832EYA1c.792C>T (p.Gly264=)
c.690C>T (p.Gly230=)
c.777C>T (p.Gly259=)
c.*71C>T (n.*71C>T)
c.28C>T
n.1255C>T
c.*559C>T (n.*559C>T)
c.879C>T (p.Gly293=)
c.864C>T (p.Gly288=)
c.861C>T (p.Gly287=)
c.774C>T (p.Gly258=)
c.693C>T (p.Gly231=)
c.789C>T (p.Gly263=)
c.-292C>T (n.-292C>T)
n.1287C>T
c.426C>T (p.Gly142=)
c.729C>T (p.Gly243=)
c.441C>T (p.Gly147=)
c.876C>T (p.Gly292=)
8g.71299081G>CCA461327833EYA1c.792C>G (p.Gly264=)
c.690C>G (p.Gly230=)
c.777C>G (p.Gly259=)
c.*71C>G (n.*71C>G)
c.28C>G
n.1255C>G
c.*559C>G (n.*559C>G)
c.879C>G (p.Gly293=)
c.864C>G (p.Gly288=)
c.861C>G (p.Gly287=)
c.774C>G (p.Gly258=)
c.693C>G (p.Gly231=)
c.789C>G (p.Gly263=)
c.-292C>G (n.-292C>G)
n.1287C>G
c.426C>G (p.Gly142=)
c.729C>G (p.Gly243=)
c.441C>G (p.Gly147=)
c.876C>G (p.Gly292=)
8g.71299081G>TCA461327834EYA1c.792C>A (p.Gly264=)
c.690C>A (p.Gly230=)
c.777C>A (p.Gly259=)
c.*71C>A (n.*71C>A)
c.28C>A
n.1255C>A
c.*559C>A (n.*559C>A)
c.879C>A (p.Gly293=)
c.864C>A (p.Gly288=)
c.861C>A (p.Gly287=)
c.774C>A (p.Gly258=)
c.693C>A (p.Gly231=)
c.789C>A (p.Gly263=)
c.-292C>A (n.-292C>A)
n.1287C>A
c.426C>A (p.Gly142=)
c.729C>A (p.Gly243=)
c.441C>A (p.Gly147=)
c.876C>A (p.Gly292=)
8g.71299082C>ACA4779665EYA1c.791G>T (p.Gly264Val)
c.689G>T (p.Gly230Val)
c.776G>T (p.Gly259Val)
c.*70G>T (n.*70G>T)
c.27G>T
n.1254G>T
c.*558G>T (n.*558G>T)
c.878G>T (p.Gly293Val)
c.863G>T (p.Gly288Val)
c.860G>T (p.Gly287Val)
c.773G>T (p.Gly258Val)
c.692G>T (p.Gly231Val)
c.788G>T (p.Gly263Val)
c.-293G>T (n.-293G>T)
n.1286G>T
c.425G>T (p.Gly142Val)
c.728G>T (p.Gly243Val)
c.440G>T (p.Gly147Val)
c.875G>T (p.Gly292Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299082C=CA1792728320EYA1c.791G= (p.Gly264=)
c.689G= (p.Gly230=)
c.776G= (p.Gly259=)
c.*70G= (n.*70G=)
c.27G=
n.1254G=
c.*558G= (n.*558G=)
c.878G= (p.Gly293=)
c.863G= (p.Gly288=)
c.860G= (p.Gly287=)
c.773G= (p.Gly258=)
c.692G= (p.Gly231=)
c.788G= (p.Gly263=)
c.-293G= (n.-293G=)
n.1286G=
c.425G= (p.Gly142=)
c.728G= (p.Gly243=)
c.440G= (p.Gly147=)
c.875G= (p.Gly292=)
8g.71299082C>GCA371467142EYA1c.791G>C (p.Gly264Ala)
c.689G>C (p.Gly230Ala)
c.776G>C (p.Gly259Ala)
c.*70G>C (n.*70G>C)
c.27G>C
n.1254G>C
c.*558G>C (n.*558G>C)
c.878G>C (p.Gly293Ala)
c.863G>C (p.Gly288Ala)
c.860G>C (p.Gly287Ala)
c.773G>C (p.Gly258Ala)
c.692G>C (p.Gly231Ala)
c.788G>C (p.Gly263Ala)
c.-293G>C (n.-293G>C)
n.1286G>C
c.425G>C (p.Gly142Ala)
c.728G>C (p.Gly243Ala)
c.440G>C (p.Gly147Ala)
c.875G>C (p.Gly292Ala)
8g.71299082C>TCA371467143EYA1c.791G>A (p.Gly264Asp)
c.689G>A (p.Gly230Asp)
c.776G>A (p.Gly259Asp)
c.*70G>A (n.*70G>A)
c.27G>A
n.1254G>A
c.*558G>A (n.*558G>A)
c.878G>A (p.Gly293Asp)
c.863G>A (p.Gly288Asp)
c.860G>A (p.Gly287Asp)
c.773G>A (p.Gly258Asp)
c.692G>A (p.Gly231Asp)
c.788G>A (p.Gly263Asp)
c.-293G>A (n.-293G>A)
n.1286G>A
c.425G>A (p.Gly142Asp)
c.728G>A (p.Gly243Asp)
c.440G>A (p.Gly147Asp)
c.875G>A (p.Gly292Asp)
 gnomAD v3 gnomAD v4
8g.71299083C>ACA371467144EYA1c.790G>T (p.Gly264Cys)
c.688G>T (p.Gly230Cys)
c.775G>T (p.Gly259Cys)
c.*69G>T (n.*69G>T)
c.26G>T
n.1253G>T
c.*557G>T (n.*557G>T)
c.877G>T (p.Gly293Cys)
c.862G>T (p.Gly288Cys)
c.859G>T (p.Gly287Cys)
c.772G>T (p.Gly258Cys)
c.691G>T (p.Gly231Cys)
c.787G>T (p.Gly263Cys)
c.-294G>T (n.-294G>T)
n.1285G>T
c.424G>T (p.Gly142Cys)
c.727G>T (p.Gly243Cys)
c.439G>T (p.Gly147Cys)
c.874G>T (p.Gly292Cys)
8g.71299083C>GCA371467145EYA1c.790G>C (p.Gly264Arg)
c.688G>C (p.Gly230Arg)
c.775G>C (p.Gly259Arg)
c.*69G>C (n.*69G>C)
c.26G>C
n.1253G>C
c.*557G>C (n.*557G>C)
c.877G>C (p.Gly293Arg)
c.862G>C (p.Gly288Arg)
c.859G>C (p.Gly287Arg)
c.772G>C (p.Gly258Arg)
c.691G>C (p.Gly231Arg)
c.787G>C (p.Gly263Arg)
c.-294G>C (n.-294G>C)
n.1285G>C
c.424G>C (p.Gly142Arg)
c.727G>C (p.Gly243Arg)
c.439G>C (p.Gly147Arg)
c.874G>C (p.Gly292Arg)
8g.71299083C>TCA371467146EYA1c.790G>A (p.Gly264Ser)
c.688G>A (p.Gly230Ser)
c.775G>A (p.Gly259Ser)
c.*69G>A (n.*69G>A)
c.26G>A
n.1253G>A
c.*557G>A (n.*557G>A)
c.877G>A (p.Gly293Ser)
c.862G>A (p.Gly288Ser)
c.859G>A (p.Gly287Ser)
c.772G>A (p.Gly258Ser)
c.691G>A (p.Gly231Ser)
c.787G>A (p.Gly263Ser)
c.-294G>A (n.-294G>A)
n.1285G>A
c.424G>A (p.Gly142Ser)
c.727G>A (p.Gly243Ser)
c.439G>A (p.Gly147Ser)
c.874G>A (p.Gly292Ser)
8g.71299084A>CCA461327835EYA1c.789T>G (p.Ser263=)
c.687T>G (p.Ser229=)
c.774T>G (p.Ser258=)
c.*68T>G (n.*68T>G)
c.25T>G
n.1252T>G
c.*556T>G (n.*556T>G)
c.876T>G (p.Ser292=)
c.861T>G (p.Ser287=)
c.858T>G (p.Ser286=)
c.771T>G (p.Ser257=)
c.690T>G (p.Ser230=)
c.786T>G (p.Ser262=)
c.-295T>G (n.-295T>G)
n.1284T>G
c.423T>G (p.Ser141=)
c.726T>G (p.Ser242=)
c.438T>G (p.Ser146=)
c.873T>G (p.Ser291=)
8g.71299084A>GCA461327836EYA1c.789T>C (p.Ser263=)
c.687T>C (p.Ser229=)
c.774T>C (p.Ser258=)
c.*68T>C (n.*68T>C)
c.25T>C
n.1252T>C
c.*556T>C (n.*556T>C)
c.876T>C (p.Ser292=)
c.861T>C (p.Ser287=)
c.858T>C (p.Ser286=)
c.771T>C (p.Ser257=)
c.690T>C (p.Ser230=)
c.786T>C (p.Ser262=)
c.-295T>C (n.-295T>C)
n.1284T>C
c.423T>C (p.Ser141=)
c.726T>C (p.Ser242=)
c.438T>C (p.Ser146=)
c.873T>C (p.Ser291=)
8g.71299084A>TCA461327837EYA1c.789T>A (p.Ser263=)
c.687T>A (p.Ser229=)
c.774T>A (p.Ser258=)
c.*68T>A (n.*68T>A)
c.25T>A
n.1252T>A
c.*556T>A (n.*556T>A)
c.876T>A (p.Ser292=)
c.861T>A (p.Ser287=)
c.858T>A (p.Ser286=)
c.771T>A (p.Ser257=)
c.690T>A (p.Ser230=)
c.786T>A (p.Ser262=)
c.-295T>A (n.-295T>A)
n.1284T>A
c.423T>A (p.Ser141=)
c.726T>A (p.Ser242=)
c.438T>A (p.Ser146=)
c.873T>A (p.Ser291=)
8g.71299085G>ACA371467147EYA1c.788C>T (p.Ser263Phe)
c.686C>T (p.Ser229Phe)
c.773C>T (p.Ser258Phe)
c.*67C>T (n.*67C>T)
c.24C>T
n.1251C>T
c.*555C>T (n.*555C>T)
c.875C>T (p.Ser292Phe)
c.860C>T (p.Ser287Phe)
c.857C>T (p.Ser286Phe)
c.770C>T (p.Ser257Phe)
c.689C>T (p.Ser230Phe)
c.785C>T (p.Ser262Phe)
c.-296C>T (n.-296C>T)
n.1283C>T
c.422C>T (p.Ser141Phe)
c.725C>T (p.Ser242Phe)
c.437C>T (p.Ser146Phe)
c.872C>T (p.Ser291Phe)
8g.71299085G>CCA371467148EYA1c.788C>G (p.Ser263Cys)
c.686C>G (p.Ser229Cys)
c.773C>G (p.Ser258Cys)
c.*67C>G (n.*67C>G)
c.24C>G
n.1251C>G
c.*555C>G (n.*555C>G)
c.875C>G (p.Ser292Cys)
c.860C>G (p.Ser287Cys)
c.857C>G (p.Ser286Cys)
c.770C>G (p.Ser257Cys)
c.689C>G (p.Ser230Cys)
c.785C>G (p.Ser262Cys)
c.-296C>G (n.-296C>G)
n.1283C>G
c.422C>G (p.Ser141Cys)
c.725C>G (p.Ser242Cys)
c.437C>G (p.Ser146Cys)
c.872C>G (p.Ser291Cys)
8g.71299085G>TCA371467149EYA1c.788C>A (p.Ser263Tyr)
c.686C>A (p.Ser229Tyr)
c.773C>A (p.Ser258Tyr)
c.*67C>A (n.*67C>A)
c.24C>A
n.1251C>A
c.*555C>A (n.*555C>A)
c.875C>A (p.Ser292Tyr)
c.860C>A (p.Ser287Tyr)
c.857C>A (p.Ser286Tyr)
c.770C>A (p.Ser257Tyr)
c.689C>A (p.Ser230Tyr)
c.785C>A (p.Ser262Tyr)
c.-296C>A (n.-296C>A)
n.1283C>A
c.422C>A (p.Ser141Tyr)
c.725C>A (p.Ser242Tyr)
c.437C>A (p.Ser146Tyr)
c.872C>A (p.Ser291Tyr)
8g.71299086A=CA1792728321EYA1c.787T= (p.Ser263=)
c.685T= (p.Ser229=)
c.772T= (p.Ser258=)
c.*66T= (n.*66T=)
c.23T=
n.1250T=
c.*554T= (n.*554T=)
c.874T= (p.Ser292=)
c.859T= (p.Ser287=)
c.856T= (p.Ser286=)
c.769T= (p.Ser257=)
c.688T= (p.Ser230=)
c.784T= (p.Ser262=)
c.-297T= (n.-297T=)
n.1282T=
c.421T= (p.Ser141=)
c.724T= (p.Ser242=)
c.436T= (p.Ser146=)
c.871T= (p.Ser291=)
8g.71299086A>CCA371467152EYA1c.787T>G (p.Ser263Ala)
c.685T>G (p.Ser229Ala)
c.772T>G (p.Ser258Ala)
c.*66T>G (n.*66T>G)
c.23T>G
n.1250T>G
c.*554T>G (n.*554T>G)
c.874T>G (p.Ser292Ala)
c.859T>G (p.Ser287Ala)
c.856T>G (p.Ser286Ala)
c.769T>G (p.Ser257Ala)
c.688T>G (p.Ser230Ala)
c.784T>G (p.Ser262Ala)
c.-297T>G (n.-297T>G)
n.1282T>G
c.421T>G (p.Ser141Ala)
c.724T>G (p.Ser242Ala)
c.436T>G (p.Ser146Ala)
c.871T>G (p.Ser291Ala)
8g.71299086A>GCA371467151EYA1c.787T>C (p.Ser263Pro)
c.685T>C (p.Ser229Pro)
c.772T>C (p.Ser258Pro)
c.*66T>C (n.*66T>C)
c.23T>C
n.1250T>C
c.*554T>C (n.*554T>C)
c.874T>C (p.Ser292Pro)
c.859T>C (p.Ser287Pro)
c.856T>C (p.Ser286Pro)
c.769T>C (p.Ser257Pro)
c.688T>C (p.Ser230Pro)
c.784T>C (p.Ser262Pro)
c.-297T>C (n.-297T>C)
n.1282T>C
c.421T>C (p.Ser141Pro)
c.724T>C (p.Ser242Pro)
c.436T>C (p.Ser146Pro)
c.871T>C (p.Ser291Pro)
 dbSNP
8g.71299086A>TCA371467150EYA1c.787T>A (p.Ser263Thr)
c.685T>A (p.Ser229Thr)
c.772T>A (p.Ser258Thr)
c.*66T>A (n.*66T>A)
c.23T>A
n.1250T>A
c.*554T>A (n.*554T>A)
c.874T>A (p.Ser292Thr)
c.859T>A (p.Ser287Thr)
c.856T>A (p.Ser286Thr)
c.769T>A (p.Ser257Thr)
c.688T>A (p.Ser230Thr)
c.784T>A (p.Ser262Thr)
c.-297T>A (n.-297T>A)
n.1282T>A
c.421T>A (p.Ser141Thr)
c.724T>A (p.Ser242Thr)
c.436T>A (p.Ser146Thr)
c.871T>A (p.Ser291Thr)
8g.71299087T>ACA461327838EYA1c.786A>T (p.Pro262=)
c.684A>T (p.Pro228=)
c.771A>T (p.Pro257=)
c.*65A>T (n.*65A>T)
c.22A>T
n.1249A>T
c.*553A>T (n.*553A>T)
c.873A>T (p.Pro291=)
c.858A>T (p.Pro286=)
c.855A>T (p.Pro285=)
c.768A>T (p.Pro256=)
c.687A>T (p.Pro229=)
c.783A>T (p.Pro261=)
c.-298A>T (n.-298A>T)
n.1281A>T
c.420A>T (p.Pro140=)
c.723A>T (p.Pro241=)
c.435A>T (p.Pro145=)
c.870A>T (p.Pro290=)
 dbSNP gnomAD v4
8g.71299087T>CCA461327839EYA1c.786A>G (p.Pro262=)
c.684A>G (p.Pro228=)
c.771A>G (p.Pro257=)
c.*65A>G (n.*65A>G)
c.22A>G
n.1249A>G
c.*553A>G (n.*553A>G)
c.873A>G (p.Pro291=)
c.858A>G (p.Pro286=)
c.855A>G (p.Pro285=)
c.768A>G (p.Pro256=)
c.687A>G (p.Pro229=)
c.783A>G (p.Pro261=)
c.-298A>G (n.-298A>G)
n.1281A>G
c.420A>G (p.Pro140=)
c.723A>G (p.Pro241=)
c.435A>G (p.Pro145=)
c.870A>G (p.Pro290=)
 gnomAD v4
8g.71299087T>GCA461327840EYA1c.786A>C (p.Pro262=)
c.684A>C (p.Pro228=)
c.771A>C (p.Pro257=)
c.*65A>C (n.*65A>C)
c.22A>C
n.1249A>C
c.*553A>C (n.*553A>C)
c.873A>C (p.Pro291=)
c.858A>C (p.Pro286=)
c.855A>C (p.Pro285=)
c.768A>C (p.Pro256=)
c.687A>C (p.Pro229=)
c.783A>C (p.Pro261=)
c.-298A>C (n.-298A>C)
n.1281A>C
c.420A>C (p.Pro140=)
c.723A>C (p.Pro241=)
c.435A>C (p.Pro145=)
c.870A>C (p.Pro290=)
8g.71299087T=CA1792728322EYA1c.786A= (p.Pro262=)
c.684A= (p.Pro228=)
c.771A= (p.Pro257=)
c.*65A= (n.*65A=)
c.22A=
n.1249A=
c.*553A= (n.*553A=)
c.873A= (p.Pro291=)
c.858A= (p.Pro286=)
c.855A= (p.Pro285=)
c.768A= (p.Pro256=)
c.687A= (p.Pro229=)
c.783A= (p.Pro261=)
c.-298A= (n.-298A=)
n.1281A=
c.420A= (p.Pro140=)
c.723A= (p.Pro241=)
c.435A= (p.Pro145=)
c.870A= (p.Pro290=)
8g.71299088G>ACA371467153EYA1c.785C>T (p.Pro262Leu)
c.683C>T (p.Pro228Leu)
c.770C>T (p.Pro257Leu)
c.*64C>T (n.*64C>T)
c.21C>T
n.1248C>T
c.*552C>T (n.*552C>T)
c.872C>T (p.Pro291Leu)
c.857C>T (p.Pro286Leu)
c.854C>T (p.Pro285Leu)
c.767C>T (p.Pro256Leu)
c.686C>T (p.Pro229Leu)
c.782C>T (p.Pro261Leu)
c.-299C>T (n.-299C>T)
n.1280C>T
c.419C>T (p.Pro140Leu)
c.722C>T (p.Pro241Leu)
c.434C>T (p.Pro145Leu)
c.869C>T (p.Pro290Leu)
8g.71299088G>CCA371467155EYA1c.785C>G (p.Pro262Arg)
c.683C>G (p.Pro228Arg)
c.770C>G (p.Pro257Arg)
c.*64C>G (n.*64C>G)
c.21C>G
n.1248C>G
c.*552C>G (n.*552C>G)
c.872C>G (p.Pro291Arg)
c.857C>G (p.Pro286Arg)
c.854C>G (p.Pro285Arg)
c.767C>G (p.Pro256Arg)
c.686C>G (p.Pro229Arg)
c.782C>G (p.Pro261Arg)
c.-299C>G (n.-299C>G)
n.1280C>G
c.419C>G (p.Pro140Arg)
c.722C>G (p.Pro241Arg)
c.434C>G (p.Pro145Arg)
c.869C>G (p.Pro290Arg)
8g.71299088G>TCA371467154EYA1c.785C>A (p.Pro262Gln)
c.683C>A (p.Pro228Gln)
c.770C>A (p.Pro257Gln)
c.*64C>A (n.*64C>A)
c.21C>A
n.1248C>A
c.*552C>A (n.*552C>A)
c.872C>A (p.Pro291Gln)
c.857C>A (p.Pro286Gln)
c.854C>A (p.Pro285Gln)
c.767C>A (p.Pro256Gln)
c.686C>A (p.Pro229Gln)
c.782C>A (p.Pro261Gln)
c.-299C>A (n.-299C>A)
n.1280C>A
c.419C>A (p.Pro140Gln)
c.722C>A (p.Pro241Gln)
c.434C>A (p.Pro145Gln)
c.869C>A (p.Pro290Gln)
8g.71299089G>ACA371467156EYA1c.784C>T (p.Pro262Ser)
c.682C>T (p.Pro228Ser)
c.769C>T (p.Pro257Ser)
c.*63C>T (n.*63C>T)
c.20C>T
n.1247C>T
c.*551C>T (n.*551C>T)
c.871C>T (p.Pro291Ser)
c.856C>T (p.Pro286Ser)
c.853C>T (p.Pro285Ser)
c.766C>T (p.Pro256Ser)
c.685C>T (p.Pro229Ser)
c.781C>T (p.Pro261Ser)
c.-300C>T (n.-300C>T)
n.1279C>T
c.418C>T (p.Pro140Ser)
c.721C>T (p.Pro241Ser)
c.433C>T (p.Pro145Ser)
c.868C>T (p.Pro290Ser)
 COSMIC COSMIC
8g.71299089G>CCA371467158EYA1c.784C>G (p.Pro262Ala)
c.682C>G (p.Pro228Ala)
c.769C>G (p.Pro257Ala)
c.*63C>G (n.*63C>G)
c.20C>G
n.1247C>G
c.*551C>G (n.*551C>G)
c.871C>G (p.Pro291Ala)
c.856C>G (p.Pro286Ala)
c.853C>G (p.Pro285Ala)
c.766C>G (p.Pro256Ala)
c.685C>G (p.Pro229Ala)
c.781C>G (p.Pro261Ala)
c.-300C>G (n.-300C>G)
n.1279C>G
c.418C>G (p.Pro140Ala)
c.721C>G (p.Pro241Ala)
c.433C>G (p.Pro145Ala)
c.868C>G (p.Pro290Ala)
8g.71299089G>TCA371467157EYA1c.784C>A (p.Pro262Thr)
c.682C>A (p.Pro228Thr)
c.769C>A (p.Pro257Thr)
c.*63C>A (n.*63C>A)
c.20C>A
n.1247C>A
c.*551C>A (n.*551C>A)
c.871C>A (p.Pro291Thr)
c.856C>A (p.Pro286Thr)
c.853C>A (p.Pro285Thr)
c.766C>A (p.Pro256Thr)
c.685C>A (p.Pro229Thr)
c.781C>A (p.Pro261Thr)
c.-300C>A (n.-300C>A)
n.1279C>A
c.418C>A (p.Pro140Thr)
c.721C>A (p.Pro241Thr)
c.433C>A (p.Pro145Thr)
c.868C>A (p.Pro290Thr)
8g.71299090C>ACA4779667EYA1c.783G>T (p.Pro261=)
c.681G>T (p.Pro227=)
c.768G>T (p.Pro256=)
c.*62G>T (n.*62G>T)
c.19G>T
n.1246G>T
c.*550G>T (n.*550G>T)
c.870G>T (p.Pro290=)
c.855G>T (p.Pro285=)
c.852G>T (p.Pro284=)
c.765G>T (p.Pro255=)
c.684G>T (p.Pro228=)
c.780G>T (p.Pro260=)
c.-301G>T (n.-301G>T)
n.1278G>T
c.417G>T (p.Pro139=)
c.720G>T (p.Pro240=)
c.432G>T (p.Pro144=)
c.867G>T (p.Pro289=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.71299090C=CA1792728323EYA1c.783G= (p.Pro261=)
c.681G= (p.Pro227=)
c.768G= (p.Pro256=)
c.*62G= (n.*62G=)
c.19G=
n.1246G=
c.*550G= (n.*550G=)
c.870G= (p.Pro290=)
c.855G= (p.Pro285=)
c.852G= (p.Pro284=)
c.765G= (p.Pro255=)
c.684G= (p.Pro228=)
c.780G= (p.Pro260=)
c.-301G= (n.-301G=)
n.1278G=
c.417G= (p.Pro139=)
c.720G= (p.Pro240=)
c.432G= (p.Pro144=)
c.867G= (p.Pro289=)
8g.71299090C>GCA461327841EYA1c.783G>C (p.Pro261=)
c.681G>C (p.Pro227=)
c.768G>C (p.Pro256=)
c.*62G>C (n.*62G>C)
c.19G>C
n.1246G>C
c.*550G>C (n.*550G>C)
c.870G>C (p.Pro290=)
c.855G>C (p.Pro285=)
c.852G>C (p.Pro284=)
c.765G>C (p.Pro255=)
c.684G>C (p.Pro228=)
c.780G>C (p.Pro260=)
c.-301G>C (n.-301G>C)
n.1278G>C
c.417G>C (p.Pro139=)
c.720G>C (p.Pro240=)
c.432G>C (p.Pro144=)
c.867G>C (p.Pro289=)
8g.71299090C>TCA4779666EYA1c.783G>A (p.Pro261=)
c.681G>A (p.Pro227=)
c.768G>A (p.Pro256=)
c.*62G>A (n.*62G>A)
c.19G>A
n.1246G>A
c.*550G>A (n.*550G>A)
c.870G>A (p.Pro290=)
c.855G>A (p.Pro285=)
c.852G>A (p.Pro284=)
c.765G>A (p.Pro255=)
c.684G>A (p.Pro228=)
c.780G>A (p.Pro260=)
c.-301G>A (n.-301G>A)
n.1278G>A
c.417G>A (p.Pro139=)
c.720G>A (p.Pro240=)
c.432G>A (p.Pro144=)
c.867G>A (p.Pro289=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.71299091G>ACA4779668EYA1c.782C>T (p.Pro261Leu)
c.680C>T (p.Pro227Leu)
c.767C>T (p.Pro256Leu)
c.*61C>T (n.*61C>T)
c.18C>T
n.1245C>T
c.*549C>T (n.*549C>T)
c.869C>T (p.Pro290Leu)
c.854C>T (p.Pro285Leu)
c.851C>T (p.Pro284Leu)
c.764C>T (p.Pro255Leu)
c.683C>T (p.Pro228Leu)
c.779C>T (p.Pro260Leu)
c.-302C>T (n.-302C>T)
n.1277C>T
c.416C>T (p.Pro139Leu)
c.719C>T (p.Pro240Leu)
c.431C>T (p.Pro144Leu)
c.866C>T (p.Pro289Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299091G>CCA371467159EYA1c.782C>G (p.Pro261Arg)
c.680C>G (p.Pro227Arg)
c.767C>G (p.Pro256Arg)
c.*61C>G (n.*61C>G)
c.18C>G
n.1245C>G
c.*549C>G (n.*549C>G)
c.869C>G (p.Pro290Arg)
c.854C>G (p.Pro285Arg)
c.851C>G (p.Pro284Arg)
c.764C>G (p.Pro255Arg)
c.683C>G (p.Pro228Arg)
c.779C>G (p.Pro260Arg)
c.-302C>G (n.-302C>G)
n.1277C>G
c.416C>G (p.Pro139Arg)
c.719C>G (p.Pro240Arg)
c.431C>G (p.Pro144Arg)
c.866C>G (p.Pro289Arg)
8g.71299091G=CA1792728324EYA1c.782C= (p.Pro261=)
c.680C= (p.Pro227=)
c.767C= (p.Pro256=)
c.*61C= (n.*61C=)
c.18C=
n.1245C=
c.*549C= (n.*549C=)
c.869C= (p.Pro290=)
c.854C= (p.Pro285=)
c.851C= (p.Pro284=)
c.764C= (p.Pro255=)
c.683C= (p.Pro228=)
c.779C= (p.Pro260=)
c.-302C= (n.-302C=)
n.1277C=
c.416C= (p.Pro139=)
c.719C= (p.Pro240=)
c.431C= (p.Pro144=)
c.866C= (p.Pro289=)
8g.71299091G>TCA4779669EYA1c.782C>A (p.Pro261Gln)
c.680C>A (p.Pro227Gln)
c.767C>A (p.Pro256Gln)
c.*61C>A (n.*61C>A)
c.18C>A
n.1245C>A
c.*549C>A (n.*549C>A)
c.869C>A (p.Pro290Gln)
c.854C>A (p.Pro285Gln)
c.851C>A (p.Pro284Gln)
c.764C>A (p.Pro255Gln)
c.683C>A (p.Pro228Gln)
c.779C>A (p.Pro260Gln)
c.-302C>A (n.-302C>A)
n.1277C>A
c.416C>A (p.Pro139Gln)
c.719C>A (p.Pro240Gln)
c.431C>A (p.Pro144Gln)
c.866C>A (p.Pro289Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299092delCA2573143313EYA1c.782del (p.Pro261ArgfsTer?)
c.680del (p.Pro227ArgfsTer?)
c.767del (p.Pro256ArgfsTer?)
c.*61del (n.*61del)
c.18del
n.1245del
c.*549del (n.*549del)
c.869del (p.Pro290ArgfsTer?)
c.854del (p.Pro285ArgfsTer?)
c.851del (p.Pro284ArgfsTer?)
c.764del (p.Pro255ArgfsTer?)
c.683del (p.Pro228ArgfsTer?)
c.779del (p.Pro260ArgfsTer?)
c.-302del (n.-302del)
n.1277del
c.416del (p.Pro139ArgfsTer?)
c.719del (p.Pro240ArgfsTer?)
c.431del (p.Pro144ArgfsTer?)
c.866del (p.Pro289ArgfsTer?)
 ClinVar dbSNP
8g.71299092G>ACA371467160EYA1c.781C>T (p.Pro261Ser)
c.679C>T (p.Pro227Ser)
c.766C>T (p.Pro256Ser)
c.*60C>T (n.*60C>T)
c.17C>T
n.1244C>T
c.*548C>T (n.*548C>T)
c.868C>T (p.Pro290Ser)
c.853C>T (p.Pro285Ser)
c.850C>T (p.Pro284Ser)
c.763C>T (p.Pro255Ser)
c.682C>T (p.Pro228Ser)
c.778C>T (p.Pro260Ser)
c.-303C>T (n.-303C>T)
n.1276C>T
c.415C>T (p.Pro139Ser)
c.718C>T (p.Pro240Ser)
c.430C>T (p.Pro144Ser)
c.865C>T (p.Pro289Ser)
8g.71299092G>CCA371467161EYA1c.781C>G (p.Pro261Ala)
c.679C>G (p.Pro227Ala)
c.766C>G (p.Pro256Ala)
c.*60C>G (n.*60C>G)
c.17C>G
n.1244C>G
c.*548C>G (n.*548C>G)
c.868C>G (p.Pro290Ala)
c.853C>G (p.Pro285Ala)
c.850C>G (p.Pro284Ala)
c.763C>G (p.Pro255Ala)
c.682C>G (p.Pro228Ala)
c.778C>G (p.Pro260Ala)
c.-303C>G (n.-303C>G)
n.1276C>G
c.415C>G (p.Pro139Ala)
c.718C>G (p.Pro240Ala)
c.430C>G (p.Pro144Ala)
c.865C>G (p.Pro289Ala)
 COSMIC COSMIC
8g.71299092G=CA1792728325EYA1c.781C= (p.Pro261=)
c.679C= (p.Pro227=)
c.766C= (p.Pro256=)
c.*60C= (n.*60C=)
c.17C=
n.1244C=
c.*548C= (n.*548C=)
c.868C= (p.Pro290=)
c.853C= (p.Pro285=)
c.850C= (p.Pro284=)
c.763C= (p.Pro255=)
c.682C= (p.Pro228=)
c.778C= (p.Pro260=)
c.-303C= (n.-303C=)
n.1276C=
c.415C= (p.Pro139=)
c.718C= (p.Pro240=)
c.430C= (p.Pro144=)
c.865C= (p.Pro289=)
8g.71299092G>TCA4779670EYA1c.781C>A (p.Pro261Thr)
c.679C>A (p.Pro227Thr)
c.766C>A (p.Pro256Thr)
c.*60C>A (n.*60C>A)
c.17C>A
n.1244C>A
c.*548C>A (n.*548C>A)
c.868C>A (p.Pro290Thr)
c.853C>A (p.Pro285Thr)
c.850C>A (p.Pro284Thr)
c.763C>A (p.Pro255Thr)
c.682C>A (p.Pro228Thr)
c.778C>A (p.Pro260Thr)
c.-303C>A (n.-303C>A)
n.1276C>A
c.415C>A (p.Pro139Thr)
c.718C>A (p.Pro240Thr)
c.430C>A (p.Pro144Thr)
c.865C>A (p.Pro289Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.71299093T>ACA371467162EYA1c.780A>T (p.Glu260Asp)
c.678A>T (p.Glu226Asp)
c.765A>T (p.Glu255Asp)
c.*59A>T (n.*59A>T)
c.16A>T
n.1243A>T
c.*547A>T (n.*547A>T)
c.867A>T (p.Glu289Asp)
c.852A>T (p.Glu284Asp)
c.849A>T (p.Glu283Asp)
c.762A>T (p.Glu254Asp)
c.681A>T (p.Glu227Asp)
c.777A>T (p.Glu259Asp)
c.-304A>T (n.-304A>T)
n.1275A>T
c.414A>T (p.Glu138Asp)
c.717A>T (p.Glu239Asp)
c.429A>T (p.Glu143Asp)
c.864A>T (p.Glu288Asp)
8g.71299093T>CCA461327842EYA1c.780A>G (p.Glu260=)
c.678A>G (p.Glu226=)
c.765A>G (p.Glu255=)
c.*59A>G (n.*59A>G)
c.16A>G
n.1243A>G
c.*547A>G (n.*547A>G)
c.867A>G (p.Glu289=)
c.852A>G (p.Glu284=)
c.849A>G (p.Glu283=)
c.762A>G (p.Glu254=)
c.681A>G (p.Glu227=)
c.777A>G (p.Glu259=)
c.-304A>G (n.-304A>G)
n.1275A>G
c.414A>G (p.Glu138=)
c.717A>G (p.Glu239=)
c.429A>G (p.Glu143=)
c.864A>G (p.Glu288=)
8g.71299093T>GCA371467163EYA1c.780A>C (p.Glu260Asp)
c.678A>C (p.Glu226Asp)
c.765A>C (p.Glu255Asp)
c.*59A>C (n.*59A>C)
c.16A>C
n.1243A>C
c.*547A>C (n.*547A>C)
c.867A>C (p.Glu289Asp)
c.852A>C (p.Glu284Asp)
c.849A>C (p.Glu283Asp)
c.762A>C (p.Glu254Asp)
c.681A>C (p.Glu227Asp)
c.777A>C (p.Glu259Asp)
c.-304A>C (n.-304A>C)
n.1275A>C
c.414A>C (p.Glu138Asp)
c.717A>C (p.Glu239Asp)
c.429A>C (p.Glu143Asp)
c.864A>C (p.Glu288Asp)
8g.71299094T>ACA4779671EYA1c.779A>T (p.Glu260Val)
c.677A>T (p.Glu226Val)
c.764A>T (p.Glu255Val)
c.*58A>T (n.*58A>T)
c.15A>T
n.1242A>T
c.*546A>T (n.*546A>T)
c.866A>T (p.Glu289Val)
c.851A>T (p.Glu284Val)
c.848A>T (p.Glu283Val)
c.761A>T (p.Glu254Val)
c.680A>T (p.Glu227Val)
c.776A>T (p.Glu259Val)
c.-305A>T (n.-305A>T)
n.1274A>T
c.413A>T (p.Glu138Val)
c.716A>T (p.Glu239Val)
c.428A>T (p.Glu143Val)
c.863A>T (p.Glu288Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299094T>CCA371467164EYA1c.779A>G (p.Glu260Gly)
c.677A>G (p.Glu226Gly)
c.764A>G (p.Glu255Gly)
c.*58A>G (n.*58A>G)
c.15A>G
n.1242A>G
c.*546A>G (n.*546A>G)
c.866A>G (p.Glu289Gly)
c.851A>G (p.Glu284Gly)
c.848A>G (p.Glu283Gly)
c.761A>G (p.Glu254Gly)
c.680A>G (p.Glu227Gly)
c.776A>G (p.Glu259Gly)
c.-305A>G (n.-305A>G)
n.1274A>G
c.413A>G (p.Glu138Gly)
c.716A>G (p.Glu239Gly)
c.428A>G (p.Glu143Gly)
c.863A>G (p.Glu288Gly)
8g.71299094T>GCA371467165EYA1c.779A>C (p.Glu260Ala)
c.677A>C (p.Glu226Ala)
c.764A>C (p.Glu255Ala)
c.*58A>C (n.*58A>C)
c.15A>C
n.1242A>C
c.*546A>C (n.*546A>C)
c.866A>C (p.Glu289Ala)
c.851A>C (p.Glu284Ala)
c.848A>C (p.Glu283Ala)
c.761A>C (p.Glu254Ala)
c.680A>C (p.Glu227Ala)
c.776A>C (p.Glu259Ala)
c.-305A>C (n.-305A>C)
n.1274A>C
c.413A>C (p.Glu138Ala)
c.716A>C (p.Glu239Ala)
c.428A>C (p.Glu143Ala)
c.863A>C (p.Glu288Ala)
8g.71299094T=CA1792728326EYA1c.779A= (p.Glu260=)
c.677A= (p.Glu226=)
c.764A= (p.Glu255=)
c.*58A= (n.*58A=)
c.15A=
n.1242A=
c.*546A= (n.*546A=)
c.866A= (p.Glu289=)
c.851A= (p.Glu284=)
c.848A= (p.Glu283=)
c.761A= (p.Glu254=)
c.680A= (p.Glu227=)
c.776A= (p.Glu259=)
c.-305A= (n.-305A=)
n.1274A=
c.413A= (p.Glu138=)
c.716A= (p.Glu239=)
c.428A= (p.Glu143=)
c.863A= (p.Glu288=)
8g.71299095C>ACA371467168EYA1c.778G>T (p.Glu260Ter)
c.676G>T (p.Glu226Ter)
c.763G>T (p.Glu255Ter)
c.*57G>T (n.*57G>T)
c.14G>T
n.1241G>T
c.*545G>T (n.*545G>T)
c.865G>T (p.Glu289Ter)
c.850G>T (p.Glu284Ter)
c.847G>T (p.Glu283Ter)
c.760G>T (p.Glu254Ter)
c.679G>T (p.Glu227Ter)
c.775G>T (p.Glu259Ter)
c.-306G>T (n.-306G>T)
n.1273G>T
c.412G>T (p.Glu138Ter)
c.715G>T (p.Glu239Ter)
c.427G>T (p.Glu143Ter)
c.862G>T (p.Glu288Ter)
8g.71299095C>GCA371467166EYA1c.778G>C (p.Glu260Gln)
c.676G>C (p.Glu226Gln)
c.763G>C (p.Glu255Gln)
c.*57G>C (n.*57G>C)
c.14G>C
n.1241G>C
c.*545G>C (n.*545G>C)
c.865G>C (p.Glu289Gln)
c.850G>C (p.Glu284Gln)
c.847G>C (p.Glu283Gln)
c.760G>C (p.Glu254Gln)
c.679G>C (p.Glu227Gln)
c.775G>C (p.Glu259Gln)
c.-306G>C (n.-306G>C)
n.1273G>C
c.412G>C (p.Glu138Gln)
c.715G>C (p.Glu239Gln)
c.427G>C (p.Glu143Gln)
c.862G>C (p.Glu288Gln)
8g.71299095C>TCA371467167EYA1c.778G>A (p.Glu260Lys)
c.676G>A (p.Glu226Lys)
c.763G>A (p.Glu255Lys)
c.*57G>A (n.*57G>A)
c.14G>A
n.1241G>A
c.*545G>A (n.*545G>A)
c.865G>A (p.Glu289Lys)
c.850G>A (p.Glu284Lys)
c.847G>A (p.Glu283Lys)
c.760G>A (p.Glu254Lys)
c.679G>A (p.Glu227Lys)
c.775G>A (p.Glu259Lys)
c.-306G>A (n.-306G>A)
n.1273G>A
c.412G>A (p.Glu138Lys)
c.715G>A (p.Glu239Lys)
c.427G>A (p.Glu143Lys)
c.862G>A (p.Glu288Lys)
8g.71299096T>ACA371467169EYA1c.777A>T (p.Gln259His)
c.675A>T (p.Gln225His)
c.762A>T (p.Gln254His)
c.*56A>T (n.*56A>T)
c.13A>T
n.1240A>T
c.*544A>T (n.*544A>T)
c.864A>T (p.Gln288His)
c.849A>T (p.Gln283His)
c.846A>T (p.Gln282His)
c.759A>T (p.Gln253His)
c.678A>T (p.Gln226His)
c.774A>T (p.Gln258His)
c.-307A>T (n.-307A>T)
n.1272A>T
c.411A>T (p.Gln137His)
c.714A>T (p.Gln238His)
c.426A>T (p.Gln142His)
c.861A>T (p.Gln287His)
8g.71299096T>CCA461327843EYA1c.777A>G (p.Gln259=)
c.675A>G (p.Gln225=)
c.762A>G (p.Gln254=)
c.*56A>G (n.*56A>G)
c.13A>G
n.1240A>G
c.*544A>G (n.*544A>G)
c.864A>G (p.Gln288=)
c.849A>G (p.Gln283=)
c.846A>G (p.Gln282=)
c.759A>G (p.Gln253=)
c.678A>G (p.Gln226=)
c.774A>G (p.Gln258=)
c.-307A>G (n.-307A>G)
n.1272A>G
c.411A>G (p.Gln137=)
c.714A>G (p.Gln238=)
c.426A>G (p.Gln142=)
c.861A>G (p.Gln287=)
 gnomAD v4
8g.71299096T>GCA371467170EYA1c.777A>C (p.Gln259His)
c.675A>C (p.Gln225His)
c.762A>C (p.Gln254His)
c.*56A>C (n.*56A>C)
c.13A>C
n.1240A>C
c.*544A>C (n.*544A>C)
c.864A>C (p.Gln288His)
c.849A>C (p.Gln283His)
c.846A>C (p.Gln282His)
c.759A>C (p.Gln253His)
c.678A>C (p.Gln226His)
c.774A>C (p.Gln258His)
c.-307A>C (n.-307A>C)
n.1272A>C
c.411A>C (p.Gln137His)
c.714A>C (p.Gln238His)
c.426A>C (p.Gln142His)
c.861A>C (p.Gln287His)
8g.71299097dupCA2695209785EYA1c.777dup (p.Glu260ArgfsTer29)
c.675dup (p.Glu226ArgfsTer29)
c.762dup (p.Glu255ArgfsTer29)
c.*56dup (n.*56dup)
c.13dup
n.1240dup
c.*544dup (n.*544dup)
c.864dup (p.Glu289ArgfsTer29)
c.849dup (p.Glu284ArgfsTer29)
c.846dup (p.Glu283ArgfsTer29)
c.759dup (p.Glu254ArgfsTer29)
c.678dup (p.Glu227ArgfsTer29)
c.774dup (p.Glu259ArgfsTer29)
c.-307dup (n.-307dup)
n.1272dup
c.411dup (p.Glu138ArgfsTer29)
c.714dup (p.Glu239ArgfsTer29)
c.426dup (p.Glu143ArgfsTer29)
c.861dup (p.Glu288ArgfsTer29)
8g.71299097T>ACA371467171EYA1c.776A>T (p.Gln259Leu)
c.674A>T (p.Gln225Leu)
c.761A>T (p.Gln254Leu)
c.*55A>T (n.*55A>T)
c.12A>T
n.1239A>T
c.*543A>T (n.*543A>T)
c.863A>T (p.Gln288Leu)
c.848A>T (p.Gln283Leu)
c.845A>T (p.Gln282Leu)
c.758A>T (p.Gln253Leu)
c.677A>T (p.Gln226Leu)
c.773A>T (p.Gln258Leu)
c.-308A>T (n.-308A>T)
n.1271A>T
c.410A>T (p.Gln137Leu)
c.713A>T (p.Gln238Leu)
c.425A>T (p.Gln142Leu)
c.860A>T (p.Gln287Leu)
8g.71299097T>CCA371467172EYA1c.776A>G (p.Gln259Arg)
c.674A>G (p.Gln225Arg)
c.761A>G (p.Gln254Arg)
c.*55A>G (n.*55A>G)
c.12A>G
n.1239A>G
c.*543A>G (n.*543A>G)
c.863A>G (p.Gln288Arg)
c.848A>G (p.Gln283Arg)
c.845A>G (p.Gln282Arg)
c.758A>G (p.Gln253Arg)
c.677A>G (p.Gln226Arg)
c.773A>G (p.Gln258Arg)
c.-308A>G (n.-308A>G)
n.1271A>G
c.410A>G (p.Gln137Arg)
c.713A>G (p.Gln238Arg)
c.425A>G (p.Gln142Arg)
c.860A>G (p.Gln287Arg)
 gnomAD v4
8g.71299097T>GCA371467173EYA1c.776A>C (p.Gln259Pro)
c.674A>C (p.Gln225Pro)
c.761A>C (p.Gln254Pro)
c.*55A>C (n.*55A>C)
c.12A>C
n.1239A>C
c.*543A>C (n.*543A>C)
c.863A>C (p.Gln288Pro)
c.848A>C (p.Gln283Pro)
c.845A>C (p.Gln282Pro)
c.758A>C (p.Gln253Pro)
c.677A>C (p.Gln226Pro)
c.773A>C (p.Gln258Pro)
c.-308A>C (n.-308A>C)
n.1271A>C
c.410A>C (p.Gln137Pro)
c.713A>C (p.Gln238Pro)
c.425A>C (p.Gln142Pro)
c.860A>C (p.Gln287Pro)
8g.71299098G>ACA371467174EYA1c.775C>T (p.Gln259Ter)
c.673C>T (p.Gln225Ter)
c.760C>T (p.Gln254Ter)
c.*54C>T (n.*54C>T)
c.11C>T
n.1238C>T
c.*542C>T (n.*542C>T)
c.862C>T (p.Gln288Ter)
c.847C>T (p.Gln283Ter)
c.844C>T (p.Gln282Ter)
c.757C>T (p.Gln253Ter)
c.676C>T (p.Gln226Ter)
c.772C>T (p.Gln258Ter)
c.-309C>T (n.-309C>T)
n.1270C>T
c.409C>T (p.Gln137Ter)
c.712C>T (p.Gln238Ter)
c.424C>T (p.Gln142Ter)
c.859C>T (p.Gln287Ter)
 ClinVar dbSNP
8g.71299098G>CCA371467175EYA1c.775C>G (p.Gln259Glu)
c.673C>G (p.Gln225Glu)
c.760C>G (p.Gln254Glu)
c.*54C>G (n.*54C>G)
c.11C>G
n.1238C>G
c.*542C>G (n.*542C>G)
c.862C>G (p.Gln288Glu)
c.847C>G (p.Gln283Glu)
c.844C>G (p.Gln282Glu)
c.757C>G (p.Gln253Glu)
c.676C>G (p.Gln226Glu)
c.772C>G (p.Gln258Glu)
c.-309C>G (n.-309C>G)
n.1270C>G
c.409C>G (p.Gln137Glu)
c.712C>G (p.Gln238Glu)
c.424C>G (p.Gln142Glu)
c.859C>G (p.Gln287Glu)
 COSMIC COSMIC
8g.71299098G>TCA371467176EYA1c.775C>A (p.Gln259Lys)
c.673C>A (p.Gln225Lys)
c.760C>A (p.Gln254Lys)
c.*54C>A (n.*54C>A)
c.11C>A
n.1238C>A
c.*542C>A (n.*542C>A)
c.862C>A (p.Gln288Lys)
c.847C>A (p.Gln283Lys)
c.844C>A (p.Gln282Lys)
c.757C>A (p.Gln253Lys)
c.676C>A (p.Gln226Lys)
c.772C>A (p.Gln258Lys)
c.-309C>A (n.-309C>A)
n.1270C>A
c.409C>A (p.Gln137Lys)
c.712C>A (p.Gln238Lys)
c.424C>A (p.Gln142Lys)
c.859C>A (p.Gln287Lys)
8g.71299099A>CCA461327844EYA1c.774T>G (p.Leu258=)
c.672T>G (p.Leu224=)
c.759T>G (p.Leu253=)
c.*53T>G (n.*53T>G)
c.10T>G
n.1237T>G
c.*541T>G (n.*541T>G)
c.861T>G (p.Leu287=)
c.846T>G (p.Leu282=)
c.843T>G (p.Leu281=)
c.756T>G (p.Leu252=)
c.675T>G (p.Leu225=)
c.771T>G (p.Leu257=)
c.-310T>G (n.-310T>G)
n.1269T>G
c.408T>G (p.Leu136=)
c.711T>G (p.Leu237=)
c.423T>G (p.Leu141=)
c.858T>G (p.Leu286=)
8g.71299099A>GCA461327845EYA1c.774T>C (p.Leu258=)
c.672T>C (p.Leu224=)
c.759T>C (p.Leu253=)
c.*53T>C (n.*53T>C)
c.10T>C
n.1237T>C
c.*541T>C (n.*541T>C)
c.861T>C (p.Leu287=)
c.846T>C (p.Leu282=)
c.843T>C (p.Leu281=)
c.756T>C (p.Leu252=)
c.675T>C (p.Leu225=)
c.771T>C (p.Leu257=)
c.-310T>C (n.-310T>C)
n.1269T>C
c.408T>C (p.Leu136=)
c.711T>C (p.Leu237=)
c.423T>C (p.Leu141=)
c.858T>C (p.Leu286=)
8g.71299099A>TCA461327846EYA1c.774T>A (p.Leu258=)
c.672T>A (p.Leu224=)
c.759T>A (p.Leu253=)
c.*53T>A (n.*53T>A)
c.10T>A
n.1237T>A
c.*541T>A (n.*541T>A)
c.861T>A (p.Leu287=)
c.846T>A (p.Leu282=)
c.843T>A (p.Leu281=)
c.756T>A (p.Leu252=)
c.675T>A (p.Leu225=)
c.771T>A (p.Leu257=)
c.-310T>A (n.-310T>A)
n.1269T>A
c.408T>A (p.Leu136=)
c.711T>A (p.Leu237=)
c.423T>A (p.Leu141=)
c.858T>A (p.Leu286=)
8g.71299100A>CCA371467177EYA1c.773T>G (p.Leu258Arg)
c.671T>G (p.Leu224Arg)
c.758T>G (p.Leu253Arg)
c.*52T>G (n.*52T>G)
c.9T>G
n.1236T>G
c.*540T>G (n.*540T>G)
c.860T>G (p.Leu287Arg)
c.845T>G (p.Leu282Arg)
c.842T>G (p.Leu281Arg)
c.755T>G (p.Leu252Arg)
c.674T>G (p.Leu225Arg)
c.770T>G (p.Leu257Arg)
c.-311T>G (n.-311T>G)
n.1268T>G
c.407T>G (p.Leu136Arg)
c.710T>G (p.Leu237Arg)
c.422T>G (p.Leu141Arg)
c.857T>G (p.Leu286Arg)
8g.71299100A>GCA371467178EYA1c.773T>C (p.Leu258Pro)
c.671T>C (p.Leu224Pro)
c.758T>C (p.Leu253Pro)
c.*52T>C (n.*52T>C)
c.9T>C
n.1236T>C
c.*540T>C (n.*540T>C)
c.860T>C (p.Leu287Pro)
c.845T>C (p.Leu282Pro)
c.842T>C (p.Leu281Pro)
c.755T>C (p.Leu252Pro)
c.674T>C (p.Leu225Pro)
c.770T>C (p.Leu257Pro)
c.-311T>C (n.-311T>C)
n.1268T>C
c.407T>C (p.Leu136Pro)
c.710T>C (p.Leu237Pro)
c.422T>C (p.Leu141Pro)
c.857T>C (p.Leu286Pro)
8g.71299100A>TCA371467179EYA1c.773T>A (p.Leu258His)
c.671T>A (p.Leu224His)
c.758T>A (p.Leu253His)
c.*52T>A (n.*52T>A)
c.9T>A
n.1236T>A
c.*540T>A (n.*540T>A)
c.860T>A (p.Leu287His)
c.845T>A (p.Leu282His)
c.842T>A (p.Leu281His)
c.755T>A (p.Leu252His)
c.674T>A (p.Leu225His)
c.770T>A (p.Leu257His)
c.-311T>A (n.-311T>A)
n.1268T>A
c.407T>A (p.Leu136His)
c.710T>A (p.Leu237His)
c.422T>A (p.Leu141His)
c.857T>A (p.Leu286His)
8g.71299101G>ACA371467181EYA1c.772C>T (p.Leu258Phe)
c.670C>T (p.Leu224Phe)
c.757C>T (p.Leu253Phe)
c.*51C>T (n.*51C>T)
c.8C>T
n.1235C>T
c.*539C>T (n.*539C>T)
c.859C>T (p.Leu287Phe)
c.844C>T (p.Leu282Phe)
c.841C>T (p.Leu281Phe)
c.754C>T (p.Leu252Phe)
c.673C>T (p.Leu225Phe)
c.769C>T (p.Leu257Phe)
c.-312C>T (n.-312C>T)
n.1267C>T
c.406C>T (p.Leu136Phe)
c.709C>T (p.Leu237Phe)
c.421C>T (p.Leu141Phe)
c.856C>T (p.Leu286Phe)
8g.71299101G>CCA371467182EYA1c.772C>G (p.Leu258Val)
c.670C>G (p.Leu224Val)
c.757C>G (p.Leu253Val)
c.*51C>G (n.*51C>G)
c.8C>G
n.1235C>G
c.*539C>G (n.*539C>G)
c.859C>G (p.Leu287Val)
c.844C>G (p.Leu282Val)
c.841C>G (p.Leu281Val)
c.754C>G (p.Leu252Val)
c.673C>G (p.Leu225Val)
c.769C>G (p.Leu257Val)
c.-312C>G (n.-312C>G)
n.1267C>G
c.406C>G (p.Leu136Val)
c.709C>G (p.Leu237Val)
c.421C>G (p.Leu141Val)
c.856C>G (p.Leu286Val)
8g.71299101G>TCA371467180EYA1c.772C>A (p.Leu258Ile)
c.670C>A (p.Leu224Ile)
c.757C>A (p.Leu253Ile)
c.*51C>A (n.*51C>A)
c.8C>A
n.1235C>A
c.*539C>A (n.*539C>A)
c.859C>A (p.Leu287Ile)
c.844C>A (p.Leu282Ile)
c.841C>A (p.Leu281Ile)
c.754C>A (p.Leu252Ile)
c.673C>A (p.Leu225Ile)
c.769C>A (p.Leu257Ile)
c.-312C>A (n.-312C>A)
n.1267C>A
c.406C>A (p.Leu136Ile)
c.709C>A (p.Leu237Ile)
c.421C>A (p.Leu141Ile)
c.856C>A (p.Leu286Ile)
8g.71299102C>ACA371467183EYA1c.771G>T (p.Gln257His)
c.669G>T (p.Gln223His)
c.756G>T (p.Gln252His)
c.*50G>T (n.*50G>T)
c.7G>T
n.1234G>T
c.*538G>T (n.*538G>T)
c.858G>T (p.Gln286His)
c.843G>T (p.Gln281His)
c.840G>T (p.Gln280His)
c.753G>T (p.Gln251His)
c.672G>T (p.Gln224His)
c.768G>T (p.Gln256His)
c.-313G>T (n.-313G>T)
n.1266G>T
c.405G>T (p.Gln135His)
c.708G>T (p.Gln236His)
c.420G>T (p.Gln140His)
c.855G>T (p.Gln285His)
8g.71299102C=CA1792728327EYA1c.771G= (p.Gln257=)
c.669G= (p.Gln223=)
c.756G= (p.Gln252=)
c.*50G= (n.*50G=)
c.7G=
n.1234G=
c.*538G= (n.*538G=)
c.858G= (p.Gln286=)
c.843G= (p.Gln281=)
c.840G= (p.Gln280=)
c.753G= (p.Gln251=)
c.672G= (p.Gln224=)
c.768G= (p.Gln256=)
c.-313G= (n.-313G=)
n.1266G=
c.405G= (p.Gln135=)
c.708G= (p.Gln236=)
c.420G= (p.Gln140=)
c.855G= (p.Gln285=)
8g.71299102C>GCA4779672EYA1c.771G>C (p.Gln257His)
c.669G>C (p.Gln223His)
c.756G>C (p.Gln252His)
c.*50G>C (n.*50G>C)
c.7G>C
n.1234G>C
c.*538G>C (n.*538G>C)
c.858G>C (p.Gln286His)
c.843G>C (p.Gln281His)
c.840G>C (p.Gln280His)
c.753G>C (p.Gln251His)
c.672G>C (p.Gln224His)
c.768G>C (p.Gln256His)
c.-313G>C (n.-313G>C)
n.1266G>C
c.405G>C (p.Gln135His)
c.708G>C (p.Gln236His)
c.420G>C (p.Gln140His)
c.855G>C (p.Gln285His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299102C>TCA461327847EYA1c.771G>A (p.Gln257=)
c.669G>A (p.Gln223=)
c.756G>A (p.Gln252=)
c.*50G>A (n.*50G>A)
c.7G>A
n.1234G>A
c.*538G>A (n.*538G>A)
c.858G>A (p.Gln286=)
c.843G>A (p.Gln281=)
c.840G>A (p.Gln280=)
c.753G>A (p.Gln251=)
c.672G>A (p.Gln224=)
c.768G>A (p.Gln256=)
c.-313G>A (n.-313G>A)
n.1266G>A
c.405G>A (p.Gln135=)
c.708G>A (p.Gln236=)
c.420G>A (p.Gln140=)
c.855G>A (p.Gln285=)
8g.71299103T>ACA371467184EYA1c.770A>T (p.Gln257Leu)
c.668A>T (p.Gln223Leu)
c.755A>T (p.Gln252Leu)
c.*49A>T (n.*49A>T)
c.6A>T
n.1233A>T
c.*537A>T (n.*537A>T)
c.857A>T (p.Gln286Leu)
c.842A>T (p.Gln281Leu)
c.839A>T (p.Gln280Leu)
c.752A>T (p.Gln251Leu)
c.671A>T (p.Gln224Leu)
c.767A>T (p.Gln256Leu)
c.-314A>T (n.-314A>T)
n.1265A>T
c.404A>T (p.Gln135Leu)
c.707A>T (p.Gln236Leu)
c.419A>T (p.Gln140Leu)
c.854A>T (p.Gln285Leu)
8g.71299103T>CCA371467185EYA1c.770A>G (p.Gln257Arg)
c.668A>G (p.Gln223Arg)
c.755A>G (p.Gln252Arg)
c.*49A>G (n.*49A>G)
c.6A>G
n.1233A>G
c.*537A>G (n.*537A>G)
c.857A>G (p.Gln286Arg)
c.842A>G (p.Gln281Arg)
c.839A>G (p.Gln280Arg)
c.752A>G (p.Gln251Arg)
c.671A>G (p.Gln224Arg)
c.767A>G (p.Gln256Arg)
c.-314A>G (n.-314A>G)
n.1265A>G
c.404A>G (p.Gln135Arg)
c.707A>G (p.Gln236Arg)
c.419A>G (p.Gln140Arg)
c.854A>G (p.Gln285Arg)
8g.71299103T>GCA371467186EYA1c.770A>C (p.Gln257Pro)
c.668A>C (p.Gln223Pro)
c.755A>C (p.Gln252Pro)
c.*49A>C (n.*49A>C)
c.6A>C
n.1233A>C
c.*537A>C (n.*537A>C)
c.857A>C (p.Gln286Pro)
c.842A>C (p.Gln281Pro)
c.839A>C (p.Gln280Pro)
c.752A>C (p.Gln251Pro)
c.671A>C (p.Gln224Pro)
c.767A>C (p.Gln256Pro)
c.-314A>C (n.-314A>C)
n.1265A>C
c.404A>C (p.Gln135Pro)
c.707A>C (p.Gln236Pro)
c.419A>C (p.Gln140Pro)
c.854A>C (p.Gln285Pro)
8g.71299104G>ACA371467189EYA1c.769C>T (p.Gln257Ter)
c.667C>T (p.Gln223Ter)
c.754C>T (p.Gln252Ter)
c.*48C>T (n.*48C>T)
c.5C>T
n.1232C>T
c.*536C>T (n.*536C>T)
c.856C>T (p.Gln286Ter)
c.841C>T (p.Gln281Ter)
c.838C>T (p.Gln280Ter)
c.751C>T (p.Gln251Ter)
c.670C>T (p.Gln224Ter)
c.766C>T (p.Gln256Ter)
c.-315C>T (n.-315C>T)
n.1264C>T
c.403C>T (p.Gln135Ter)
c.706C>T (p.Gln236Ter)
c.418C>T (p.Gln140Ter)
c.853C>T (p.Gln285Ter)
8g.71299104G>CCA371467188EYA1c.769C>G (p.Gln257Glu)
c.667C>G (p.Gln223Glu)
c.754C>G (p.Gln252Glu)
c.*48C>G (n.*48C>G)
c.5C>G
n.1232C>G
c.*536C>G (n.*536C>G)
c.856C>G (p.Gln286Glu)
c.841C>G (p.Gln281Glu)
c.838C>G (p.Gln280Glu)
c.751C>G (p.Gln251Glu)
c.670C>G (p.Gln224Glu)
c.766C>G (p.Gln256Glu)
c.-315C>G (n.-315C>G)
n.1264C>G
c.403C>G (p.Gln135Glu)
c.706C>G (p.Gln236Glu)
c.418C>G (p.Gln140Glu)
c.853C>G (p.Gln285Glu)
 dbSNP
8g.71299104G>TCA371467187EYA1c.769C>A (p.Gln257Lys)
c.667C>A (p.Gln223Lys)
c.754C>A (p.Gln252Lys)
c.*48C>A (n.*48C>A)
c.5C>A
n.1232C>A
c.*536C>A (n.*536C>A)
c.856C>A (p.Gln286Lys)
c.841C>A (p.Gln281Lys)
c.838C>A (p.Gln280Lys)
c.751C>A (p.Gln251Lys)
c.670C>A (p.Gln224Lys)
c.766C>A (p.Gln256Lys)
c.-315C>A (n.-315C>A)
n.1264C>A
c.403C>A (p.Gln135Lys)
c.706C>A (p.Gln236Lys)
c.418C>A (p.Gln140Lys)
c.853C>A (p.Gln285Lys)
8g.71299105delCA2695209786EYA1c.769del (p.Gln257SerfsTer?)
c.667del (p.Gln223SerfsTer?)
c.754del (p.Gln252SerfsTer?)
c.*48del (n.*48del)
c.5del
n.1232del
c.*536del (n.*536del)
c.856del (p.Gln286SerfsTer?)
c.841del (p.Gln281SerfsTer?)
c.838del (p.Gln280SerfsTer?)
c.751del (p.Gln251SerfsTer?)
c.670del (p.Gln224SerfsTer?)
c.766del (p.Gln256SerfsTer?)
c.-315del (n.-315del)
n.1264del
c.403del (p.Gln135SerfsTer?)
c.706del (p.Gln236SerfsTer?)
c.418del (p.Gln140SerfsTer?)
c.853del (p.Gln285SerfsTer?)
8g.71299105G>ACA4779673EYA1c.768C>T (p.Tyr256=)
c.666C>T (p.Tyr222=)
c.753C>T (p.Tyr251=)
c.*47C>T (n.*47C>T)
c.4C>T
n.1231C>T
c.*535C>T (n.*535C>T)
c.855C>T (p.Tyr285=)
c.840C>T (p.Tyr280=)
c.837C>T (p.Tyr279=)
c.750C>T (p.Tyr250=)
c.669C>T (p.Tyr223=)
c.765C>T (p.Tyr255=)
c.-316C>T (n.-316C>T)
n.1263C>T
c.402C>T (p.Tyr134=)
c.705C>T (p.Tyr235=)
c.417C>T (p.Tyr139=)
c.852C>T (p.Tyr284=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299105G>CCA371467190EYA1c.768C>G (p.Tyr256Ter)
c.666C>G (p.Tyr222Ter)
c.753C>G (p.Tyr251Ter)
c.*47C>G (n.*47C>G)
c.4C>G
n.1231C>G
c.*535C>G (n.*535C>G)
c.855C>G (p.Tyr285Ter)
c.840C>G (p.Tyr280Ter)
c.837C>G (p.Tyr279Ter)
c.750C>G (p.Tyr250Ter)
c.669C>G (p.Tyr223Ter)
c.765C>G (p.Tyr255Ter)
c.-316C>G (n.-316C>G)
n.1263C>G
c.402C>G (p.Tyr134Ter)
c.705C>G (p.Tyr235Ter)
c.417C>G (p.Tyr139Ter)
c.852C>G (p.Tyr284Ter)
8g.71299105G=CA1792728328EYA1c.768C= (p.Tyr256=)
c.666C= (p.Tyr222=)
c.753C= (p.Tyr251=)
c.*47C= (n.*47C=)
c.4C=
n.1231C=
c.*535C= (n.*535C=)
c.855C= (p.Tyr285=)
c.840C= (p.Tyr280=)
c.837C= (p.Tyr279=)
c.750C= (p.Tyr250=)
c.669C= (p.Tyr223=)
c.765C= (p.Tyr255=)
c.-316C= (n.-316C=)
n.1263C=
c.402C= (p.Tyr134=)
c.705C= (p.Tyr235=)
c.417C= (p.Tyr139=)
c.852C= (p.Tyr284=)
8g.71299105G>TCA371467191EYA1c.768C>A (p.Tyr256Ter)
c.666C>A (p.Tyr222Ter)
c.753C>A (p.Tyr251Ter)
c.*47C>A (n.*47C>A)
c.4C>A
n.1231C>A
c.*535C>A (n.*535C>A)
c.855C>A (p.Tyr285Ter)
c.840C>A (p.Tyr280Ter)
c.837C>A (p.Tyr279Ter)
c.750C>A (p.Tyr250Ter)
c.669C>A (p.Tyr223Ter)
c.765C>A (p.Tyr255Ter)
c.-316C>A (n.-316C>A)
n.1263C>A
c.402C>A (p.Tyr134Ter)
c.705C>A (p.Tyr235Ter)
c.417C>A (p.Tyr139Ter)
c.852C>A (p.Tyr284Ter)
8g.71299106T>ACA371467192EYA1c.767A>T (p.Tyr256Phe)
c.665A>T (p.Tyr222Phe)
c.752A>T (p.Tyr251Phe)
c.*46A>T (n.*46A>T)
c.3A>T
n.1230A>T
c.*534A>T (n.*534A>T)
c.854A>T (p.Tyr285Phe)
c.839A>T (p.Tyr280Phe)
c.836A>T (p.Tyr279Phe)
c.749A>T (p.Tyr250Phe)
c.668A>T (p.Tyr223Phe)
c.764A>T (p.Tyr255Phe)
c.-317A>T (n.-317A>T)
n.1262A>T
c.401A>T (p.Tyr134Phe)
c.704A>T (p.Tyr235Phe)
c.416A>T (p.Tyr139Phe)
c.851A>T (p.Tyr284Phe)
8g.71299106T>CCA371467193EYA1c.767A>G (p.Tyr256Cys)
c.665A>G (p.Tyr222Cys)
c.752A>G (p.Tyr251Cys)
c.*46A>G (n.*46A>G)
c.3A>G
n.1230A>G
c.*534A>G (n.*534A>G)
c.854A>G (p.Tyr285Cys)
c.839A>G (p.Tyr280Cys)
c.836A>G (p.Tyr279Cys)
c.749A>G (p.Tyr250Cys)
c.668A>G (p.Tyr223Cys)
c.764A>G (p.Tyr255Cys)
c.-317A>G (n.-317A>G)
n.1262A>G
c.401A>G (p.Tyr134Cys)
c.704A>G (p.Tyr235Cys)
c.416A>G (p.Tyr139Cys)
c.851A>G (p.Tyr284Cys)
 gnomAD v4
8g.71299106T>GCA371467194EYA1c.767A>C (p.Tyr256Ser)
c.665A>C (p.Tyr222Ser)
c.752A>C (p.Tyr251Ser)
c.*46A>C (n.*46A>C)
c.3A>C
n.1230A>C
c.*534A>C (n.*534A>C)
c.854A>C (p.Tyr285Ser)
c.839A>C (p.Tyr280Ser)
c.836A>C (p.Tyr279Ser)
c.749A>C (p.Tyr250Ser)
c.668A>C (p.Tyr223Ser)
c.764A>C (p.Tyr255Ser)
c.-317A>C (n.-317A>C)
n.1262A>C
c.401A>C (p.Tyr134Ser)
c.704A>C (p.Tyr235Ser)
c.416A>C (p.Tyr139Ser)
c.851A>C (p.Tyr284Ser)
8g.71299107A>CCA371467195EYA1c.766T>G (p.Tyr256Asp)
c.664T>G (p.Tyr222Asp)
c.751T>G (p.Tyr251Asp)
c.*45T>G (n.*45T>G)
c.2T>G
n.1229T>G
c.*533T>G (n.*533T>G)
c.853T>G (p.Tyr285Asp)
c.838T>G (p.Tyr280Asp)
c.835T>G (p.Tyr279Asp)
c.748T>G (p.Tyr250Asp)
c.667T>G (p.Tyr223Asp)
c.763T>G (p.Tyr255Asp)
c.-318T>G (n.-318T>G)
n.1261T>G
c.400T>G (p.Tyr134Asp)
c.703T>G (p.Tyr235Asp)
c.415T>G (p.Tyr139Asp)
c.850T>G (p.Tyr284Asp)
8g.71299107A>GCA371467197EYA1c.766T>C (p.Tyr256His)
c.664T>C (p.Tyr222His)
c.751T>C (p.Tyr251His)
c.*45T>C (n.*45T>C)
c.2T>C
n.1229T>C
c.*533T>C (n.*533T>C)
c.853T>C (p.Tyr285His)
c.838T>C (p.Tyr280His)
c.835T>C (p.Tyr279His)
c.748T>C (p.Tyr250His)
c.667T>C (p.Tyr223His)
c.763T>C (p.Tyr255His)
c.-318T>C (n.-318T>C)
n.1261T>C
c.400T>C (p.Tyr134His)
c.703T>C (p.Tyr235His)
c.415T>C (p.Tyr139His)
c.850T>C (p.Tyr284His)
8g.71299107A>TCA371467196EYA1c.766T>A (p.Tyr256Asn)
c.664T>A (p.Tyr222Asn)
c.751T>A (p.Tyr251Asn)
c.*45T>A (n.*45T>A)
c.2T>A
n.1229T>A
c.*533T>A (n.*533T>A)
c.853T>A (p.Tyr285Asn)
c.838T>A (p.Tyr280Asn)
c.835T>A (p.Tyr279Asn)
c.748T>A (p.Tyr250Asn)
c.667T>A (p.Tyr223Asn)
c.763T>A (p.Tyr255Asn)
c.-318T>A (n.-318T>A)
n.1261T>A
c.400T>A (p.Tyr134Asn)
c.703T>A (p.Tyr235Asn)
c.415T>A (p.Tyr139Asn)
c.850T>A (p.Tyr284Asn)
8g.71299108A>CCA461327848EYA1c.765T>G (p.Thr255=)
c.663T>G (p.Thr221=)
c.750T>G (p.Thr250=)
c.*44T>G (n.*44T>G)
c.1T>G
n.1228T>G
c.*532T>G (n.*532T>G)
c.852T>G (p.Thr284=)
c.837T>G (p.Thr279=)
c.834T>G (p.Thr278=)
c.747T>G (p.Thr249=)
c.666T>G (p.Thr222=)
c.762T>G (p.Thr254=)
c.-319T>G (n.-319T>G)
n.1260T>G
c.399T>G (p.Thr133=)
c.702T>G (p.Thr234=)
c.414T>G (p.Thr138=)
c.849T>G (p.Thr283=)
8g.71299108A>GCA461327849EYA1c.765T>C (p.Thr255=)
c.663T>C (p.Thr221=)
c.750T>C (p.Thr250=)
c.*44T>C (n.*44T>C)
c.1T>C
n.1228T>C
c.*532T>C (n.*532T>C)
c.852T>C (p.Thr284=)
c.837T>C (p.Thr279=)
c.834T>C (p.Thr278=)
c.747T>C (p.Thr249=)
c.666T>C (p.Thr222=)
c.762T>C (p.Thr254=)
c.-319T>C (n.-319T>C)
n.1260T>C
c.399T>C (p.Thr133=)
c.702T>C (p.Thr234=)
c.414T>C (p.Thr138=)
c.849T>C (p.Thr283=)
8g.71299108A>TCA461327850EYA1c.765T>A (p.Thr255=)
c.663T>A (p.Thr221=)
c.750T>A (p.Thr250=)
c.*44T>A (n.*44T>A)
c.1T>A
n.1228T>A
c.*532T>A (n.*532T>A)
c.852T>A (p.Thr284=)
c.837T>A (p.Thr279=)
c.834T>A (p.Thr278=)
c.747T>A (p.Thr249=)
c.666T>A (p.Thr222=)
c.762T>A (p.Thr254=)
c.-319T>A (n.-319T>A)
n.1260T>A
c.399T>A (p.Thr133=)
c.702T>A (p.Thr234=)
c.414T>A (p.Thr138=)
c.849T>A (p.Thr283=)
8g.71299109G>ACA371467198EYA1c.764C>T (p.Thr255Ile)
c.662C>T (p.Thr221Ile)
c.749C>T (p.Thr250Ile)
c.*43C>T (n.*43C>T)
n.1227C>T
c.*531C>T (n.*531C>T)
c.851C>T (p.Thr284Ile)
c.836C>T (p.Thr279Ile)
c.833C>T (p.Thr278Ile)
c.746C>T (p.Thr249Ile)
c.665C>T (p.Thr222Ile)
c.761C>T (p.Thr254Ile)
n.1259C>T
c.398C>T (p.Thr133Ile)
c.701C>T (p.Thr234Ile)
c.413C>T (p.Thr138Ile)
c.848C>T (p.Thr283Ile)
8g.71299109G>CCA371467199EYA1c.764C>G (p.Thr255Ser)
c.662C>G (p.Thr221Ser)
c.749C>G (p.Thr250Ser)
c.*43C>G (n.*43C>G)
n.1227C>G
c.*531C>G (n.*531C>G)
c.851C>G (p.Thr284Ser)
c.836C>G (p.Thr279Ser)
c.833C>G (p.Thr278Ser)
c.746C>G (p.Thr249Ser)
c.665C>G (p.Thr222Ser)
c.761C>G (p.Thr254Ser)
n.1259C>G
c.398C>G (p.Thr133Ser)
c.701C>G (p.Thr234Ser)
c.413C>G (p.Thr138Ser)
c.848C>G (p.Thr283Ser)
8g.71299109G>TCA371467200EYA1c.764C>A (p.Thr255Asn)
c.662C>A (p.Thr221Asn)
c.749C>A (p.Thr250Asn)
c.*43C>A (n.*43C>A)
n.1227C>A
c.*531C>A (n.*531C>A)
c.851C>A (p.Thr284Asn)
c.836C>A (p.Thr279Asn)
c.833C>A (p.Thr278Asn)
c.746C>A (p.Thr249Asn)
c.665C>A (p.Thr222Asn)
c.761C>A (p.Thr254Asn)
n.1259C>A
c.398C>A (p.Thr133Asn)
c.701C>A (p.Thr234Asn)
c.413C>A (p.Thr138Asn)
c.848C>A (p.Thr283Asn)
 gnomAD v4
8g.71299110T>ACA371467201EYA1c.763A>T (p.Thr255Ser)
c.661A>T (p.Thr221Ser)
c.748A>T (p.Thr250Ser)
c.*42A>T (n.*42A>T)
n.1226A>T
c.*530A>T (n.*530A>T)
c.850A>T (p.Thr284Ser)
c.835A>T (p.Thr279Ser)
c.832A>T (p.Thr278Ser)
c.745A>T (p.Thr249Ser)
c.664A>T (p.Thr222Ser)
c.760A>T (p.Thr254Ser)
n.1258A>T
c.397A>T (p.Thr133Ser)
c.700A>T (p.Thr234Ser)
c.412A>T (p.Thr138Ser)
c.847A>T (p.Thr283Ser)
8g.71299110T>CCA371467202EYA1c.763A>G (p.Thr255Ala)
c.661A>G (p.Thr221Ala)
c.748A>G (p.Thr250Ala)
c.*42A>G (n.*42A>G)
n.1226A>G
c.*530A>G (n.*530A>G)
c.850A>G (p.Thr284Ala)
c.835A>G (p.Thr279Ala)
c.832A>G (p.Thr278Ala)
c.745A>G (p.Thr249Ala)
c.664A>G (p.Thr222Ala)
c.760A>G (p.Thr254Ala)
n.1258A>G
c.397A>G (p.Thr133Ala)
c.700A>G (p.Thr234Ala)
c.412A>G (p.Thr138Ala)
c.847A>G (p.Thr283Ala)
 gnomAD v4
8g.71299110T>GCA371467203EYA1c.763A>C (p.Thr255Pro)
c.661A>C (p.Thr221Pro)
c.748A>C (p.Thr250Pro)
c.*42A>C (n.*42A>C)
n.1226A>C
c.*530A>C (n.*530A>C)
c.850A>C (p.Thr284Pro)
c.835A>C (p.Thr279Pro)
c.832A>C (p.Thr278Pro)
c.745A>C (p.Thr249Pro)
c.664A>C (p.Thr222Pro)
c.760A>C (p.Thr254Pro)
n.1258A>C
c.397A>C (p.Thr133Pro)
c.700A>C (p.Thr234Pro)
c.412A>C (p.Thr138Pro)
c.847A>C (p.Thr283Pro)
8g.71299111G>ACA461327852EYA1c.762C>T (p.Ala254=)
c.660C>T (p.Ala220=)
c.747C>T (p.Ala249=)
c.*41C>T (n.*41C>T)
n.1225C>T
c.*529C>T (n.*529C>T)
c.849C>T (p.Ala283=)
c.834C>T (p.Ala278=)
c.831C>T (p.Ala277=)
c.744C>T (p.Ala248=)
c.663C>T (p.Ala221=)
c.759C>T (p.Ala253=)
n.1257C>T
c.396C>T (p.Ala132=)
c.699C>T (p.Ala233=)
c.411C>T (p.Ala137=)
c.846C>T (p.Ala282=)
8g.71299111G>CCA461327853EYA1c.762C>G (p.Ala254=)
c.660C>G (p.Ala220=)
c.747C>G (p.Ala249=)
c.*41C>G (n.*41C>G)
n.1225C>G
c.*529C>G (n.*529C>G)
c.849C>G (p.Ala283=)
c.834C>G (p.Ala278=)
c.831C>G (p.Ala277=)
c.744C>G (p.Ala248=)
c.663C>G (p.Ala221=)
c.759C>G (p.Ala253=)
n.1257C>G
c.396C>G (p.Ala132=)
c.699C>G (p.Ala233=)
c.411C>G (p.Ala137=)
c.846C>G (p.Ala282=)
8g.71299111G>TCA461327851EYA1c.762C>A (p.Ala254=)
c.660C>A (p.Ala220=)
c.747C>A (p.Ala249=)
c.*41C>A (n.*41C>A)
n.1225C>A
c.*529C>A (n.*529C>A)
c.849C>A (p.Ala283=)
c.834C>A (p.Ala278=)
c.831C>A (p.Ala277=)
c.744C>A (p.Ala248=)
c.663C>A (p.Ala221=)
c.759C>A (p.Ala253=)
n.1257C>A
c.396C>A (p.Ala132=)
c.699C>A (p.Ala233=)
c.411C>A (p.Ala137=)
c.846C>A (p.Ala282=)
8g.71299112G>ACA371467204EYA1c.761C>T (p.Ala254Val)
c.659C>T (p.Ala220Val)
c.746C>T (p.Ala249Val)
c.*40C>T (n.*40C>T)
n.1224C>T
c.*528C>T (n.*528C>T)
c.848C>T (p.Ala283Val)
c.833C>T (p.Ala278Val)
c.830C>T (p.Ala277Val)
c.743C>T (p.Ala248Val)
c.662C>T (p.Ala221Val)
c.758C>T (p.Ala253Val)
n.1256C>T
c.395C>T (p.Ala132Val)
c.698C>T (p.Ala233Val)
c.410C>T (p.Ala137Val)
c.845C>T (p.Ala282Val)
8g.71299112G>CCA371467205EYA1c.761C>G (p.Ala254Gly)
c.659C>G (p.Ala220Gly)
c.746C>G (p.Ala249Gly)
c.*40C>G (n.*40C>G)
n.1224C>G
c.*528C>G (n.*528C>G)
c.848C>G (p.Ala283Gly)
c.833C>G (p.Ala278Gly)
c.830C>G (p.Ala277Gly)
c.743C>G (p.Ala248Gly)
c.662C>G (p.Ala221Gly)
c.758C>G (p.Ala253Gly)
n.1256C>G
c.395C>G (p.Ala132Gly)
c.698C>G (p.Ala233Gly)
c.410C>G (p.Ala137Gly)
c.845C>G (p.Ala282Gly)
8g.71299112G=CA1792728329EYA1c.761C= (p.Ala254=)
c.659C= (p.Ala220=)
c.746C= (p.Ala249=)
c.*40C= (n.*40C=)
n.1224C=
c.*528C= (n.*528C=)
c.848C= (p.Ala283=)
c.833C= (p.Ala278=)
c.830C= (p.Ala277=)
c.743C= (p.Ala248=)
c.662C= (p.Ala221=)
c.758C= (p.Ala253=)
n.1256C=
c.395C= (p.Ala132=)
c.698C= (p.Ala233=)
c.410C= (p.Ala137=)
c.845C= (p.Ala282=)
8g.71299112G>TCA371467206EYA1c.761C>A (p.Ala254Asp)
c.659C>A (p.Ala220Asp)
c.746C>A (p.Ala249Asp)
c.*40C>A (n.*40C>A)
n.1224C>A
c.*528C>A (n.*528C>A)
c.848C>A (p.Ala283Asp)
c.833C>A (p.Ala278Asp)
c.830C>A (p.Ala277Asp)
c.743C>A (p.Ala248Asp)
c.662C>A (p.Ala221Asp)
c.758C>A (p.Ala253Asp)
n.1256C>A
c.395C>A (p.Ala132Asp)
c.698C>A (p.Ala233Asp)
c.410C>A (p.Ala137Asp)
c.845C>A (p.Ala282Asp)
 dbSNP gnomAD v4 COSMIC COSMIC
8g.71299113C>ACA371467207EYA1c.760G>T (p.Ala254Ser)
c.658G>T (p.Ala220Ser)
c.745G>T (p.Ala249Ser)
c.*39G>T (n.*39G>T)
n.1223G>T
c.*527G>T (n.*527G>T)
c.847G>T (p.Ala283Ser)
c.832G>T (p.Ala278Ser)
c.829G>T (p.Ala277Ser)
c.742G>T (p.Ala248Ser)
c.661G>T (p.Ala221Ser)
c.757G>T (p.Ala253Ser)
n.1255G>T
c.394G>T (p.Ala132Ser)
c.697G>T (p.Ala233Ser)
c.409G>T (p.Ala137Ser)
c.844G>T (p.Ala282Ser)
8g.71299113C>GCA371467208EYA1c.760G>C (p.Ala254Pro)
c.658G>C (p.Ala220Pro)
c.745G>C (p.Ala249Pro)
c.*39G>C (n.*39G>C)
n.1223G>C
c.*527G>C (n.*527G>C)
c.847G>C (p.Ala283Pro)
c.832G>C (p.Ala278Pro)
c.829G>C (p.Ala277Pro)
c.742G>C (p.Ala248Pro)
c.661G>C (p.Ala221Pro)
c.757G>C (p.Ala253Pro)
n.1255G>C
c.394G>C (p.Ala132Pro)
c.697G>C (p.Ala233Pro)
c.409G>C (p.Ala137Pro)
c.844G>C (p.Ala282Pro)
8g.71299113C>TCA371467209EYA1c.760G>A (p.Ala254Thr)
c.658G>A (p.Ala220Thr)
c.745G>A (p.Ala249Thr)
c.*39G>A (n.*39G>A)
n.1223G>A
c.*527G>A (n.*527G>A)
c.847G>A (p.Ala283Thr)
c.832G>A (p.Ala278Thr)
c.829G>A (p.Ala277Thr)
c.742G>A (p.Ala248Thr)
c.661G>A (p.Ala221Thr)
c.757G>A (p.Ala253Thr)
n.1255G>A
c.394G>A (p.Ala132Thr)
c.697G>A (p.Ala233Thr)
c.409G>A (p.Ala137Thr)
c.844G>A (p.Ala282Thr)
8g.71299114A=CA1792728330EYA1c.759T= (p.Asn253=)
c.657T= (p.Asn219=)
c.744T= (p.Asn248=)
c.*38T= (n.*38T=)
n.1222T=
c.*526T= (n.*526T=)
c.846T= (p.Asn282=)
c.831T= (p.Asn277=)
c.828T= (p.Asn276=)
c.741T= (p.Asn247=)
c.660T= (p.Asn220=)
c.756T= (p.Asn252=)
n.1254T=
c.393T= (p.Asn131=)
c.696T= (p.Asn232=)
c.408T= (p.Asn136=)
c.843T= (p.Asn281=)
8g.71299114A>CCA371467211EYA1c.759T>G (p.Asn253Lys)
c.657T>G (p.Asn219Lys)
c.744T>G (p.Asn248Lys)
c.*38T>G (n.*38T>G)
n.1222T>G
c.*526T>G (n.*526T>G)
c.846T>G (p.Asn282Lys)
c.831T>G (p.Asn277Lys)
c.828T>G (p.Asn276Lys)
c.741T>G (p.Asn247Lys)
c.660T>G (p.Asn220Lys)
c.756T>G (p.Asn252Lys)
n.1254T>G
c.393T>G (p.Asn131Lys)
c.696T>G (p.Asn232Lys)
c.408T>G (p.Asn136Lys)
c.843T>G (p.Asn281Lys)
8g.71299114A>GCA461327854EYA1c.759T>C (p.Asn253=)
c.657T>C (p.Asn219=)
c.744T>C (p.Asn248=)
c.*38T>C (n.*38T>C)
n.1222T>C
c.*526T>C (n.*526T>C)
c.846T>C (p.Asn282=)
c.831T>C (p.Asn277=)
c.828T>C (p.Asn276=)
c.741T>C (p.Asn247=)
c.660T>C (p.Asn220=)
c.756T>C (p.Asn252=)
n.1254T>C
c.393T>C (p.Asn131=)
c.696T>C (p.Asn232=)
c.408T>C (p.Asn136=)
c.843T>C (p.Asn281=)
 gnomAD v2 gnomAD v4
8g.71299114A>TCA371467210EYA1c.759T>A (p.Asn253Lys)
c.657T>A (p.Asn219Lys)
c.744T>A (p.Asn248Lys)
c.*38T>A (n.*38T>A)
n.1222T>A
c.*526T>A (n.*526T>A)
c.846T>A (p.Asn282Lys)
c.831T>A (p.Asn277Lys)
c.828T>A (p.Asn276Lys)
c.741T>A (p.Asn247Lys)
c.660T>A (p.Asn220Lys)
c.756T>A (p.Asn252Lys)
n.1254T>A
c.393T>A (p.Asn131Lys)
c.696T>A (p.Asn232Lys)
c.408T>A (p.Asn136Lys)
c.843T>A (p.Asn281Lys)
8g.71299115T>ACA371467212EYA1c.758A>T (p.Asn253Ile)
c.656A>T (p.Asn219Ile)
c.743A>T (p.Asn248Ile)
c.*37A>T (n.*37A>T)
n.1221A>T
c.*525A>T (n.*525A>T)
c.845A>T (p.Asn282Ile)
c.830A>T (p.Asn277Ile)
c.827A>T (p.Asn276Ile)
c.740A>T (p.Asn247Ile)
c.659A>T (p.Asn220Ile)
c.755A>T (p.Asn252Ile)
n.1253A>T
c.392A>T (p.Asn131Ile)
c.695A>T (p.Asn232Ile)
c.407A>T (p.Asn136Ile)
c.842A>T (p.Asn281Ile)
 dbSNP gnomAD v3 gnomAD v4
8g.71299115T>CCA179208549EYA1c.758A>G (p.Asn253Ser)
c.656A>G (p.Asn219Ser)
c.743A>G (p.Asn248Ser)
c.*37A>G (n.*37A>G)
n.1221A>G
c.*525A>G (n.*525A>G)
c.845A>G (p.Asn282Ser)
c.830A>G (p.Asn277Ser)
c.827A>G (p.Asn276Ser)
c.740A>G (p.Asn247Ser)
c.659A>G (p.Asn220Ser)
c.755A>G (p.Asn252Ser)
n.1253A>G
c.392A>G (p.Asn131Ser)
c.695A>G (p.Asn232Ser)
c.407A>G (p.Asn136Ser)
c.842A>G (p.Asn281Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71299115T>GCA371467213EYA1c.758A>C (p.Asn253Thr)
c.656A>C (p.Asn219Thr)
c.743A>C (p.Asn248Thr)
c.*37A>C (n.*37A>C)
n.1221A>C
c.*525A>C (n.*525A>C)
c.845A>C (p.Asn282Thr)
c.830A>C (p.Asn277Thr)
c.827A>C (p.Asn276Thr)
c.740A>C (p.Asn247Thr)
c.659A>C (p.Asn220Thr)
c.755A>C (p.Asn252Thr)
n.1253A>C
c.392A>C (p.Asn131Thr)
c.695A>C (p.Asn232Thr)
c.407A>C (p.Asn136Thr)
c.842A>C (p.Asn281Thr)
8g.71299115T=CA1792728331EYA1c.758A= (p.Asn253=)
c.656A= (p.Asn219=)
c.743A= (p.Asn248=)
c.*37A= (n.*37A=)
n.1221A=
c.*525A= (n.*525A=)
c.845A= (p.Asn282=)
c.830A= (p.Asn277=)
c.827A= (p.Asn276=)
c.740A= (p.Asn247=)
c.659A= (p.Asn220=)
c.755A= (p.Asn252=)
n.1253A=
c.392A= (p.Asn131=)
c.695A= (p.Asn232=)
c.407A= (p.Asn136=)
c.842A= (p.Asn281=)
8g.71299116dupCA1115143984EYA1c.758dup (p.Asn253LysfsTer?)
c.656dup (p.Asn219LysfsTer?)
c.743dup (p.Asn248LysfsTer?)
c.*37dup (n.*37dup)
n.1221dup
c.*525dup (n.*525dup)
c.845dup (p.Asn282LysfsTer?)
c.830dup (p.Asn277LysfsTer?)
c.827dup (p.Asn276LysfsTer?)
c.740dup (p.Asn247LysfsTer?)
c.659dup (p.Asn220LysfsTer?)
c.755dup (p.Asn252LysfsTer?)
n.1253dup
c.392dup (p.Asn131LysfsTer?)
c.695dup (p.Asn232LysfsTer?)
c.407dup (p.Asn136LysfsTer?)
c.842dup (p.Asn281LysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
8g.71299116T>ACA371467214EYA1c.757A>T (p.Asn253Tyr)
c.655A>T (p.Asn219Tyr)
c.742A>T (p.Asn248Tyr)
c.*36A>T (n.*36A>T)
n.1220A>T
c.*524A>T (n.*524A>T)
c.844A>T (p.Asn282Tyr)
c.829A>T (p.Asn277Tyr)
c.826A>T (p.Asn276Tyr)
c.739A>T (p.Asn247Tyr)
c.658A>T (p.Asn220Tyr)
c.754A>T (p.Asn252Tyr)
n.1252A>T
c.391A>T (p.Asn131Tyr)
c.694A>T (p.Asn232Tyr)
c.406A>T (p.Asn136Tyr)
c.841A>T (p.Asn281Tyr)
8g.71299116T>CCA371467215EYA1c.757A>G (p.Asn253Asp)
c.655A>G (p.Asn219Asp)
c.742A>G (p.Asn248Asp)
c.*36A>G (n.*36A>G)
n.1220A>G
c.*524A>G (n.*524A>G)
c.844A>G (p.Asn282Asp)
c.829A>G (p.Asn277Asp)
c.826A>G (p.Asn276Asp)
c.739A>G (p.Asn247Asp)
c.658A>G (p.Asn220Asp)
c.754A>G (p.Asn252Asp)
n.1252A>G
c.391A>G (p.Asn131Asp)
c.694A>G (p.Asn232Asp)
c.406A>G (p.Asn136Asp)
c.841A>G (p.Asn281Asp)
8g.71299116T>GCA371467216EYA1c.757A>C (p.Asn253His)
c.655A>C (p.Asn219His)
c.742A>C (p.Asn248His)
c.*36A>C (n.*36A>C)
n.1220A>C
c.*524A>C (n.*524A>C)
c.844A>C (p.Asn282His)
c.829A>C (p.Asn277His)
c.826A>C (p.Asn276His)
c.739A>C (p.Asn247His)
c.658A>C (p.Asn220His)
c.754A>C (p.Asn252His)
n.1252A>C
c.391A>C (p.Asn131His)
c.694A>C (p.Asn232His)
c.406A>C (p.Asn136His)
c.841A>C (p.Asn281His)
8g.71299117G>ACA461327855EYA1c.756C>T (p.Thr252=)
c.654C>T (p.Thr218=)
c.741C>T (p.Thr247=)
c.*35C>T (n.*35C>T)
n.1219C>T
c.*523C>T (n.*523C>T)
c.843C>T (p.Thr281=)
c.828C>T (p.Thr276=)
c.825C>T (p.Thr275=)
c.738C>T (p.Thr246=)
c.657C>T (p.Thr219=)
c.753C>T (p.Thr251=)
n.1251C>T
c.390C>T (p.Thr130=)
c.693C>T (p.Thr231=)
c.405C>T (p.Thr135=)
c.840C>T (p.Thr280=)
8g.71299117G>CCA461327856EYA1c.756C>G (p.Thr252=)
c.654C>G (p.Thr218=)
c.741C>G (p.Thr247=)
c.*35C>G (n.*35C>G)
n.1219C>G
c.*523C>G (n.*523C>G)
c.843C>G (p.Thr281=)
c.828C>G (p.Thr276=)
c.825C>G (p.Thr275=)
c.738C>G (p.Thr246=)
c.657C>G (p.Thr219=)
c.753C>G (p.Thr251=)
n.1251C>G
c.390C>G (p.Thr130=)
c.693C>G (p.Thr231=)
c.405C>G (p.Thr135=)
c.840C>G (p.Thr280=)
 dbSNP
8g.71299117G=CA1792728332EYA1c.756C= (p.Thr252=)
c.654C= (p.Thr218=)
c.741C= (p.Thr247=)
c.*35C= (n.*35C=)
n.1219C=
c.*523C= (n.*523C=)
c.843C= (p.Thr281=)
c.828C= (p.Thr276=)
c.825C= (p.Thr275=)
c.738C= (p.Thr246=)
c.657C= (p.Thr219=)
c.753C= (p.Thr251=)
n.1251C=
c.390C= (p.Thr130=)
c.693C= (p.Thr231=)
c.405C= (p.Thr135=)
c.840C= (p.Thr280=)
8g.71299117G>TCA461327857EYA1c.756C>A (p.Thr252=)
c.654C>A (p.Thr218=)
c.741C>A (p.Thr247=)
c.*35C>A (n.*35C>A)
n.1219C>A
c.*523C>A (n.*523C>A)
c.843C>A (p.Thr281=)
c.828C>A (p.Thr276=)
c.825C>A (p.Thr275=)
c.738C>A (p.Thr246=)
c.657C>A (p.Thr219=)
c.753C>A (p.Thr251=)
n.1251C>A
c.390C>A (p.Thr130=)
c.693C>A (p.Thr231=)
c.405C>A (p.Thr135=)
c.840C>A (p.Thr280=)
8g.71299118G>ACA4779674EYA1c.755C>T (p.Thr252Ile)
c.653C>T (p.Thr218Ile)
c.740C>T (p.Thr247Ile)
c.*34C>T (n.*34C>T)
n.1218C>T
c.*522C>T (n.*522C>T)
c.842C>T (p.Thr281Ile)
c.827C>T (p.Thr276Ile)
c.824C>T (p.Thr275Ile)
c.737C>T (p.Thr246Ile)
c.656C>T (p.Thr219Ile)
c.752C>T (p.Thr251Ile)
n.1250C>T
c.389C>T (p.Thr130Ile)
c.692C>T (p.Thr231Ile)
c.404C>T (p.Thr135Ile)
c.839C>T (p.Thr280Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299118G>CCA371467218EYA1c.755C>G (p.Thr252Ser)
c.653C>G (p.Thr218Ser)
c.740C>G (p.Thr247Ser)
c.*34C>G (n.*34C>G)
n.1218C>G
c.*522C>G (n.*522C>G)
c.842C>G (p.Thr281Ser)
c.827C>G (p.Thr276Ser)
c.824C>G (p.Thr275Ser)
c.737C>G (p.Thr246Ser)
c.656C>G (p.Thr219Ser)
c.752C>G (p.Thr251Ser)
n.1250C>G
c.389C>G (p.Thr130Ser)
c.692C>G (p.Thr231Ser)
c.404C>G (p.Thr135Ser)
c.839C>G (p.Thr280Ser)
8g.71299118G=CA1792728333EYA1c.755C= (p.Thr252=)
c.653C= (p.Thr218=)
c.740C= (p.Thr247=)
c.*34C= (n.*34C=)
n.1218C=
c.*522C= (n.*522C=)
c.842C= (p.Thr281=)
c.827C= (p.Thr276=)
c.824C= (p.Thr275=)
c.737C= (p.Thr246=)
c.656C= (p.Thr219=)
c.752C= (p.Thr251=)
n.1250C=
c.389C= (p.Thr130=)
c.692C= (p.Thr231=)
c.404C= (p.Thr135=)
c.839C= (p.Thr280=)
8g.71299118G>TCA371467217EYA1c.755C>A (p.Thr252Asn)
c.653C>A (p.Thr218Asn)
c.740C>A (p.Thr247Asn)
c.*34C>A (n.*34C>A)
n.1218C>A
c.*522C>A (n.*522C>A)
c.842C>A (p.Thr281Asn)
c.827C>A (p.Thr276Asn)
c.824C>A (p.Thr275Asn)
c.737C>A (p.Thr246Asn)
c.656C>A (p.Thr219Asn)
c.752C>A (p.Thr251Asn)
n.1250C>A
c.389C>A (p.Thr130Asn)
c.692C>A (p.Thr231Asn)
c.404C>A (p.Thr135Asn)
c.839C>A (p.Thr280Asn)
8g.71299119T>ACA371467219EYA1c.754A>T (p.Thr252Ser)
c.652A>T (p.Thr218Ser)
c.739A>T (p.Thr247Ser)
c.*33A>T (n.*33A>T)
n.1217A>T
c.*521A>T (n.*521A>T)
c.841A>T (p.Thr281Ser)
c.826A>T (p.Thr276Ser)
c.823A>T (p.Thr275Ser)
c.736A>T (p.Thr246Ser)
c.655A>T (p.Thr219Ser)
c.751A>T (p.Thr251Ser)
n.1249A>T
c.388A>T (p.Thr130Ser)
c.691A>T (p.Thr231Ser)
c.403A>T (p.Thr135Ser)
c.838A>T (p.Thr280Ser)
8g.71299119T>CCA371467220EYA1c.754A>G (p.Thr252Ala)
c.652A>G (p.Thr218Ala)
c.739A>G (p.Thr247Ala)
c.*33A>G (n.*33A>G)
n.1217A>G
c.*521A>G (n.*521A>G)
c.841A>G (p.Thr281Ala)
c.826A>G (p.Thr276Ala)
c.823A>G (p.Thr275Ala)
c.736A>G (p.Thr246Ala)
c.655A>G (p.Thr219Ala)
c.751A>G (p.Thr251Ala)
n.1249A>G
c.388A>G (p.Thr130Ala)
c.691A>G (p.Thr231Ala)
c.403A>G (p.Thr135Ala)
c.838A>G (p.Thr280Ala)
8g.71299119T>GCA371467221EYA1c.754A>C (p.Thr252Pro)
c.652A>C (p.Thr218Pro)
c.739A>C (p.Thr247Pro)
c.*33A>C (n.*33A>C)
n.1217A>C
c.*521A>C (n.*521A>C)
c.841A>C (p.Thr281Pro)
c.826A>C (p.Thr276Pro)
c.823A>C (p.Thr275Pro)
c.736A>C (p.Thr246Pro)
c.655A>C (p.Thr219Pro)
c.751A>C (p.Thr251Pro)
n.1249A>C
c.388A>C (p.Thr130Pro)
c.691A>C (p.Thr231Pro)
c.403A>C (p.Thr135Pro)
c.838A>C (p.Thr280Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.71299119T=CA1792728334EYA1c.754A= (p.Thr252=)
c.652A= (p.Thr218=)
c.739A= (p.Thr247=)
c.*33A= (n.*33A=)
n.1217A=
c.*521A= (n.*521A=)
c.841A= (p.Thr281=)
c.826A= (p.Thr276=)
c.823A= (p.Thr275=)
c.736A= (p.Thr246=)
c.655A= (p.Thr219=)
c.751A= (p.Thr251=)
n.1249A=
c.388A= (p.Thr130=)
c.691A= (p.Thr231=)
c.403A= (p.Thr135=)
c.838A= (p.Thr280=)
8g.71299120G>ACA461327858EYA1c.753C>T (p.Ser251=)
c.651C>T (p.Ser217=)
c.738C>T (p.Ser246=)
c.*32C>T (n.*32C>T)
n.1216C>T
c.*520C>T (n.*520C>T)
c.840C>T (p.Ser280=)
c.825C>T (p.Ser275=)
c.822C>T (p.Ser274=)
c.735C>T (p.Ser245=)
c.654C>T (p.Ser218=)
c.750C>T (p.Ser250=)
n.1248C>T
c.387C>T (p.Ser129=)
c.690C>T (p.Ser230=)
c.402C>T (p.Ser134=)
c.837C>T (p.Ser279=)
 COSMIC COSMIC
8g.71299120G>CCA461327859EYA1c.753C>G (p.Ser251=)
c.651C>G (p.Ser217=)
c.738C>G (p.Ser246=)
c.*32C>G (n.*32C>G)
n.1216C>G
c.*520C>G (n.*520C>G)
c.840C>G (p.Ser280=)
c.825C>G (p.Ser275=)
c.822C>G (p.Ser274=)
c.735C>G (p.Ser245=)
c.654C>G (p.Ser218=)
c.750C>G (p.Ser250=)
n.1248C>G
c.387C>G (p.Ser129=)
c.690C>G (p.Ser230=)
c.402C>G (p.Ser134=)
c.837C>G (p.Ser279=)
8g.71299120G>TCA461327860EYA1c.753C>A (p.Ser251=)
c.651C>A (p.Ser217=)
c.738C>A (p.Ser246=)
c.*32C>A (n.*32C>A)
n.1216C>A
c.*520C>A (n.*520C>A)
c.840C>A (p.Ser280=)
c.825C>A (p.Ser275=)
c.822C>A (p.Ser274=)
c.735C>A (p.Ser245=)
c.654C>A (p.Ser218=)
c.750C>A (p.Ser250=)
n.1248C>A
c.387C>A (p.Ser129=)
c.690C>A (p.Ser230=)
c.402C>A (p.Ser134=)
c.837C>A (p.Ser279=)
8g.71299121G>ACA371467222EYA1c.752C>T (p.Ser251Phe)
c.650C>T (p.Ser217Phe)
c.737C>T (p.Ser246Phe)
c.*31C>T (n.*31C>T)
n.1215C>T
c.*519C>T (n.*519C>T)
c.839C>T (p.Ser280Phe)
c.824C>T (p.Ser275Phe)
c.821C>T (p.Ser274Phe)
c.734C>T (p.Ser245Phe)
c.653C>T (p.Ser218Phe)
c.749C>T (p.Ser250Phe)
n.1247C>T
c.386C>T (p.Ser129Phe)
c.689C>T (p.Ser230Phe)
c.401C>T (p.Ser134Phe)
c.836C>T (p.Ser279Phe)
 dbSNP gnomAD v4 COSMIC COSMIC
8g.71299121G>CCA371467223EYA1c.752C>G (p.Ser251Cys)
c.650C>G (p.Ser217Cys)
c.737C>G (p.Ser246Cys)
c.*31C>G (n.*31C>G)
n.1215C>G
c.*519C>G (n.*519C>G)
c.839C>G (p.Ser280Cys)
c.824C>G (p.Ser275Cys)
c.821C>G (p.Ser274Cys)
c.734C>G (p.Ser245Cys)
c.653C>G (p.Ser218Cys)
c.749C>G (p.Ser250Cys)
n.1247C>G
c.386C>G (p.Ser129Cys)
c.689C>G (p.Ser230Cys)
c.401C>G (p.Ser134Cys)
c.836C>G (p.Ser279Cys)
8g.71299121G=CA1792728335EYA1c.752C= (p.Ser251=)
c.650C= (p.Ser217=)
c.737C= (p.Ser246=)
c.*31C= (n.*31C=)
n.1215C=
c.*519C= (n.*519C=)
c.839C= (p.Ser280=)
c.824C= (p.Ser275=)
c.821C= (p.Ser274=)
c.734C= (p.Ser245=)
c.653C= (p.Ser218=)
c.749C= (p.Ser250=)
n.1247C=
c.386C= (p.Ser129=)
c.689C= (p.Ser230=)
c.401C= (p.Ser134=)
c.836C= (p.Ser279=)
8g.71299121G>TCA371467224EYA1c.752C>A (p.Ser251Tyr)
c.650C>A (p.Ser217Tyr)
c.737C>A (p.Ser246Tyr)
c.*31C>A (n.*31C>A)
n.1215C>A
c.*519C>A (n.*519C>A)
c.839C>A (p.Ser280Tyr)
c.824C>A (p.Ser275Tyr)
c.821C>A (p.Ser274Tyr)
c.734C>A (p.Ser245Tyr)
c.653C>A (p.Ser218Tyr)
c.749C>A (p.Ser250Tyr)
n.1247C>A
c.386C>A (p.Ser129Tyr)
c.689C>A (p.Ser230Tyr)
c.401C>A (p.Ser134Tyr)
c.836C>A (p.Ser279Tyr)
8g.71299122A>CCA371467227EYA1c.751T>G (p.Ser251Ala)
c.649T>G (p.Ser217Ala)
c.736T>G (p.Ser246Ala)
c.*30T>G (n.*30T>G)
n.1214T>G
c.*518T>G (n.*518T>G)
c.838T>G (p.Ser280Ala)
c.823T>G (p.Ser275Ala)
c.820T>G (p.Ser274Ala)
c.733T>G (p.Ser245Ala)
c.652T>G (p.Ser218Ala)
c.748T>G (p.Ser250Ala)
n.1246T>G
c.385T>G (p.Ser129Ala)
c.688T>G (p.Ser230Ala)
c.400T>G (p.Ser134Ala)
c.835T>G (p.Ser279Ala)
8g.71299122A>GCA371467225EYA1c.751T>C (p.Ser251Pro)
c.649T>C (p.Ser217Pro)
c.736T>C (p.Ser246Pro)
c.*30T>C (n.*30T>C)
n.1214T>C
c.*518T>C (n.*518T>C)
c.838T>C (p.Ser280Pro)
c.823T>C (p.Ser275Pro)
c.820T>C (p.Ser274Pro)
c.733T>C (p.Ser245Pro)
c.652T>C (p.Ser218Pro)
c.748T>C (p.Ser250Pro)
n.1246T>C
c.385T>C (p.Ser129Pro)
c.688T>C (p.Ser230Pro)
c.400T>C (p.Ser134Pro)
c.835T>C (p.Ser279Pro)
8g.71299122A>TCA371467226EYA1c.751T>A (p.Ser251Thr)
c.649T>A (p.Ser217Thr)
c.736T>A (p.Ser246Thr)
c.*30T>A (n.*30T>A)
n.1214T>A
c.*518T>A (n.*518T>A)
c.838T>A (p.Ser280Thr)
c.823T>A (p.Ser275Thr)
c.820T>A (p.Ser274Thr)
c.733T>A (p.Ser245Thr)
c.652T>A (p.Ser218Thr)
c.748T>A (p.Ser250Thr)
n.1246T>A
c.385T>A (p.Ser129Thr)
c.688T>A (p.Ser230Thr)
c.400T>A (p.Ser134Thr)
c.835T>A (p.Ser279Thr)
8g.71299123T>ACA461327862EYA1c.750A>T (p.Pro250=)
c.648A>T (p.Pro216=)
c.735A>T (p.Pro245=)
c.*29A>T (n.*29A>T)
n.1213A>T
c.*517A>T (n.*517A>T)
c.837A>T (p.Pro279=)
c.822A>T (p.Pro274=)
c.819A>T (p.Pro273=)
c.732A>T (p.Pro244=)
c.651A>T (p.Pro217=)
c.747A>T (p.Pro249=)
n.1245A>T
c.384A>T (p.Pro128=)
c.687A>T (p.Pro229=)
c.399A>T (p.Pro133=)
c.834A>T (p.Pro278=)
8g.71299123T>CCA461327863EYA1c.750A>G (p.Pro250=)
c.648A>G (p.Pro216=)
c.735A>G (p.Pro245=)
c.*29A>G (n.*29A>G)
n.1213A>G
c.*517A>G (n.*517A>G)
c.837A>G (p.Pro279=)
c.822A>G (p.Pro274=)
c.819A>G (p.Pro273=)
c.732A>G (p.Pro244=)
c.651A>G (p.Pro217=)
c.747A>G (p.Pro249=)
n.1245A>G
c.384A>G (p.Pro128=)
c.687A>G (p.Pro229=)
c.399A>G (p.Pro133=)
c.834A>G (p.Pro278=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71299123T>GCA461327861EYA1c.750A>C (p.Pro250=)
c.648A>C (p.Pro216=)
c.735A>C (p.Pro245=)
c.*29A>C (n.*29A>C)
n.1213A>C
c.*517A>C (n.*517A>C)
c.837A>C (p.Pro279=)
c.822A>C (p.Pro274=)
c.819A>C (p.Pro273=)
c.732A>C (p.Pro244=)
c.651A>C (p.Pro217=)
c.747A>C (p.Pro249=)
n.1245A>C
c.384A>C (p.Pro128=)
c.687A>C (p.Pro229=)
c.399A>C (p.Pro133=)
c.834A>C (p.Pro278=)
8g.71299123T=CA1792728336EYA1c.750A= (p.Pro250=)
c.648A= (p.Pro216=)
c.735A= (p.Pro245=)
c.*29A= (n.*29A=)
n.1213A=
c.*517A= (n.*517A=)
c.837A= (p.Pro279=)
c.822A= (p.Pro274=)
c.819A= (p.Pro273=)
c.732A= (p.Pro244=)
c.651A= (p.Pro217=)
c.747A= (p.Pro249=)
n.1245A=
c.384A= (p.Pro128=)
c.687A= (p.Pro229=)
c.399A= (p.Pro133=)
c.834A= (p.Pro278=)
8g.71299123_71299124insACACCA915945735EYA1c.749_750insGTGT (p.Ser251CysfsTer?)
c.647_648insGTGT (p.Ser217CysfsTer?)
c.734_735insGTGT (p.Ser246CysfsTer?)
c.*28_*29insGTGT (n.*28_*29insGTGT)
n.1212_1213insGTGT
c.*516_*517insGTGT (n.*516_*517insGTGT)
c.836_837insGTGT (p.Ser280CysfsTer?)
c.821_822insGTGT (p.Ser275CysfsTer?)
c.818_819insGTGT (p.Ser274CysfsTer?)
c.731_732insGTGT (p.Ser245CysfsTer?)
c.650_651insGTGT (p.Ser218CysfsTer?)
c.746_747insGTGT (p.Ser250CysfsTer?)
n.1244_1245insGTGT
c.383_384insGTGT (p.Ser129CysfsTer?)
c.686_687insGTGT (p.Ser230CysfsTer?)
c.398_399insGTGT (p.Ser134CysfsTer?)
c.833_834insGTGT (p.Ser279CysfsTer?)
 ClinVar dbSNP
8g.71299124G>ACA371467228EYA1c.749C>T (p.Pro250Leu)
c.647C>T (p.Pro216Leu)
c.734C>T (p.Pro245Leu)
c.*28C>T (n.*28C>T)
n.1212C>T
c.*516C>T (n.*516C>T)
c.836C>T (p.Pro279Leu)
c.821C>T (p.Pro274Leu)
c.818C>T (p.Pro273Leu)
c.731C>T (p.Pro244Leu)
c.650C>T (p.Pro217Leu)
c.746C>T (p.Pro249Leu)
n.1244C>T
c.383C>T (p.Pro128Leu)
c.686C>T (p.Pro229Leu)
c.398C>T (p.Pro133Leu)
c.833C>T (p.Pro278Leu)
8g.71299124G>CCA371467229EYA1c.749C>G (p.Pro250Arg)
c.647C>G (p.Pro216Arg)
c.734C>G (p.Pro245Arg)
c.*28C>G (n.*28C>G)
n.1212C>G
c.*516C>G (n.*516C>G)
c.836C>G (p.Pro279Arg)
c.821C>G (p.Pro274Arg)
c.818C>G (p.Pro273Arg)
c.731C>G (p.Pro244Arg)
c.650C>G (p.Pro217Arg)
c.746C>G (p.Pro249Arg)
n.1244C>G
c.383C>G (p.Pro128Arg)
c.686C>G (p.Pro229Arg)
c.398C>G (p.Pro133Arg)
c.833C>G (p.Pro278Arg)
8g.71299124G>TCA371467230EYA1c.749C>A (p.Pro250Gln)
c.647C>A (p.Pro216Gln)
c.734C>A (p.Pro245Gln)
c.*28C>A (n.*28C>A)
n.1212C>A
c.*516C>A (n.*516C>A)
c.836C>A (p.Pro279Gln)
c.821C>A (p.Pro274Gln)
c.818C>A (p.Pro273Gln)
c.731C>A (p.Pro244Gln)
c.650C>A (p.Pro217Gln)
c.746C>A (p.Pro249Gln)
n.1244C>A
c.383C>A (p.Pro128Gln)
c.686C>A (p.Pro229Gln)
c.398C>A (p.Pro133Gln)
c.833C>A (p.Pro278Gln)
8g.71299125G>ACA371467231EYA1c.748C>T (p.Pro250Ser)
c.646C>T (p.Pro216Ser)
c.733C>T (p.Pro245Ser)
c.*27C>T (n.*27C>T)
n.1211C>T
c.*515C>T (n.*515C>T)
c.835C>T (p.Pro279Ser)
c.820C>T (p.Pro274Ser)
c.817C>T (p.Pro273Ser)
c.730C>T (p.Pro244Ser)
c.649C>T (p.Pro217Ser)
c.745C>T (p.Pro249Ser)
n.1243C>T
c.382C>T (p.Pro128Ser)
c.685C>T (p.Pro229Ser)
c.397C>T (p.Pro133Ser)
c.832C>T (p.Pro278Ser)
 dbSNP
8g.71299125G>CCA371467232EYA1c.748C>G (p.Pro250Ala)
c.646C>G (p.Pro216Ala)
c.733C>G (p.Pro245Ala)
c.*27C>G (n.*27C>G)
n.1211C>G
c.*515C>G (n.*515C>G)
c.835C>G (p.Pro279Ala)
c.820C>G (p.Pro274Ala)
c.817C>G (p.Pro273Ala)
c.730C>G (p.Pro244Ala)
c.649C>G (p.Pro217Ala)
c.745C>G (p.Pro249Ala)
n.1243C>G
c.382C>G (p.Pro128Ala)
c.685C>G (p.Pro229Ala)
c.397C>G (p.Pro133Ala)
c.832C>G (p.Pro278Ala)
8g.71299125G=CA1792728337EYA1c.748C= (p.Pro250=)
c.646C= (p.Pro216=)
c.733C= (p.Pro245=)
c.*27C= (n.*27C=)
n.1211C=
c.*515C= (n.*515C=)
c.835C= (p.Pro279=)
c.820C= (p.Pro274=)
c.817C= (p.Pro273=)
c.730C= (p.Pro244=)
c.649C= (p.Pro217=)
c.745C= (p.Pro249=)
n.1243C=
c.382C= (p.Pro128=)
c.685C= (p.Pro229=)
c.397C= (p.Pro133=)
c.832C= (p.Pro278=)
8g.71299125G>TCA371467233EYA1c.748C>A (p.Pro250Thr)
c.646C>A (p.Pro216Thr)
c.733C>A (p.Pro245Thr)
c.*27C>A (n.*27C>A)
n.1211C>A
c.*515C>A (n.*515C>A)
c.835C>A (p.Pro279Thr)
c.820C>A (p.Pro274Thr)
c.817C>A (p.Pro273Thr)
c.730C>A (p.Pro244Thr)
c.649C>A (p.Pro217Thr)
c.745C>A (p.Pro249Thr)
n.1243C>A
c.382C>A (p.Pro128Thr)
c.685C>A (p.Pro229Thr)
c.397C>A (p.Pro133Thr)
c.832C>A (p.Pro278Thr)
8g.71299126T>ACA461327864EYA1c.747A>T (p.Thr249=)
c.645A>T (p.Thr215=)
c.732A>T (p.Thr244=)
c.*26A>T (n.*26A>T)
n.1210A>T
c.*514A>T (n.*514A>T)
c.834A>T (p.Thr278=)
c.819A>T (p.Thr273=)
c.816A>T (p.Thr272=)
c.729A>T (p.Thr243=)
c.648A>T (p.Thr216=)
c.744A>T (p.Thr248=)
n.1242A>T
c.381A>T (p.Thr127=)
c.684A>T (p.Thr228=)
c.396A>T (p.Thr132=)
c.831A>T (p.Thr277=)
8g.71299126T>CCA461327865EYA1c.747A>G (p.Thr249=)
c.645A>G (p.Thr215=)
c.732A>G (p.Thr244=)
c.*26A>G (n.*26A>G)
n.1210A>G
c.*514A>G (n.*514A>G)
c.834A>G (p.Thr278=)
c.819A>G (p.Thr273=)
c.816A>G (p.Thr272=)
c.729A>G (p.Thr243=)
c.648A>G (p.Thr216=)
c.744A>G (p.Thr248=)
n.1242A>G
c.381A>G (p.Thr127=)
c.684A>G (p.Thr228=)
c.396A>G (p.Thr132=)
c.831A>G (p.Thr277=)
8g.71299126T>GCA461327866EYA1c.747A>C (p.Thr249=)
c.645A>C (p.Thr215=)
c.732A>C (p.Thr244=)
c.*26A>C (n.*26A>C)
n.1210A>C
c.*514A>C (n.*514A>C)
c.834A>C (p.Thr278=)
c.819A>C (p.Thr273=)
c.816A>C (p.Thr272=)
c.729A>C (p.Thr243=)
c.648A>C (p.Thr216=)
c.744A>C (p.Thr248=)
n.1242A>C
c.381A>C (p.Thr127=)
c.684A>C (p.Thr228=)
c.396A>C (p.Thr132=)
c.831A>C (p.Thr277=)
 dbSNP
8g.71299126T=CA1792728338EYA1c.747A= (p.Thr249=)
c.645A= (p.Thr215=)
c.732A= (p.Thr244=)
c.*26A= (n.*26A=)
n.1210A=
c.*514A= (n.*514A=)
c.834A= (p.Thr278=)
c.819A= (p.Thr273=)
c.816A= (p.Thr272=)
c.729A= (p.Thr243=)
c.648A= (p.Thr216=)
c.744A= (p.Thr248=)
n.1242A=
c.381A= (p.Thr127=)
c.684A= (p.Thr228=)
c.396A= (p.Thr132=)
c.831A= (p.Thr277=)
8g.71299127G>ACA371467234EYA1c.746C>T (p.Thr249Ile)
c.644C>T (p.Thr215Ile)
c.731C>T (p.Thr244Ile)
c.*25C>T (n.*25C>T)
n.1209C>T
c.*513C>T (n.*513C>T)
c.833C>T (p.Thr278Ile)
c.818C>T (p.Thr273Ile)
c.815C>T (p.Thr272Ile)
c.728C>T (p.Thr243Ile)
c.647C>T (p.Thr216Ile)
c.743C>T (p.Thr248Ile)
n.1241C>T
c.380C>T (p.Thr127Ile)
c.683C>T (p.Thr228Ile)
c.395C>T (p.Thr132Ile)
c.830C>T (p.Thr277Ile)
8g.71299127G>CCA371467235EYA1c.746C>G (p.Thr249Arg)
c.644C>G (p.Thr215Arg)
c.731C>G (p.Thr244Arg)
c.*25C>G (n.*25C>G)
n.1209C>G
c.*513C>G (n.*513C>G)
c.833C>G (p.Thr278Arg)
c.818C>G (p.Thr273Arg)
c.815C>G (p.Thr272Arg)
c.728C>G (p.Thr243Arg)
c.647C>G (p.Thr216Arg)
c.743C>G (p.Thr248Arg)
n.1241C>G
c.380C>G (p.Thr127Arg)
c.683C>G (p.Thr228Arg)
c.395C>G (p.Thr132Arg)
c.830C>G (p.Thr277Arg)
8g.71299127G>TCA371467236EYA1c.746C>A (p.Thr249Lys)
c.644C>A (p.Thr215Lys)
c.731C>A (p.Thr244Lys)
c.*25C>A (n.*25C>A)
n.1209C>A
c.*513C>A (n.*513C>A)
c.833C>A (p.Thr278Lys)
c.818C>A (p.Thr273Lys)
c.815C>A (p.Thr272Lys)
c.728C>A (p.Thr243Lys)
c.647C>A (p.Thr216Lys)
c.743C>A (p.Thr248Lys)
n.1241C>A
c.380C>A (p.Thr127Lys)
c.683C>A (p.Thr228Lys)
c.395C>A (p.Thr132Lys)
c.830C>A (p.Thr277Lys)
 COSMIC COSMIC
8g.71299128T>ACA371467237EYA1c.745A>T (p.Thr249Ser)
c.643A>T (p.Thr215Ser)
c.730A>T (p.Thr244Ser)
c.*24A>T (n.*24A>T)
n.1208A>T
c.*512A>T (n.*512A>T)
c.832A>T (p.Thr278Ser)
c.817A>T (p.Thr273Ser)
c.814A>T (p.Thr272Ser)
c.727A>T (p.Thr243Ser)
c.646A>T (p.Thr216Ser)
c.742A>T (p.Thr248Ser)
n.1240A>T
c.379A>T (p.Thr127Ser)
c.682A>T (p.Thr228Ser)
c.394A>T (p.Thr132Ser)
c.829A>T (p.Thr277Ser)
8g.71299128T>CCA371467238EYA1c.745A>G (p.Thr249Ala)
c.643A>G (p.Thr215Ala)
c.730A>G (p.Thr244Ala)
c.*24A>G (n.*24A>G)
n.1208A>G
c.*512A>G (n.*512A>G)
c.832A>G (p.Thr278Ala)
c.817A>G (p.Thr273Ala)
c.814A>G (p.Thr272Ala)
c.727A>G (p.Thr243Ala)
c.646A>G (p.Thr216Ala)
c.742A>G (p.Thr248Ala)
n.1240A>G
c.379A>G (p.Thr127Ala)
c.682A>G (p.Thr228Ala)
c.394A>G (p.Thr132Ala)
c.829A>G (p.Thr277Ala)
8g.71299128T>GCA371467239EYA1c.745A>C (p.Thr249Pro)
c.643A>C (p.Thr215Pro)
c.730A>C (p.Thr244Pro)
c.*24A>C (n.*24A>C)
n.1208A>C
c.*512A>C (n.*512A>C)
c.832A>C (p.Thr278Pro)
c.817A>C (p.Thr273Pro)
c.814A>C (p.Thr272Pro)
c.727A>C (p.Thr243Pro)
c.646A>C (p.Thr216Pro)
c.742A>C (p.Thr248Pro)
n.1240A>C
c.379A>C (p.Thr127Pro)
c.682A>C (p.Thr228Pro)
c.394A>C (p.Thr132Pro)
c.829A>C (p.Thr277Pro)
8g.71299129C>ACA461327867EYA1c.744G>T (p.Thr248=)
c.642G>T (p.Thr214=)
c.729G>T (p.Thr243=)
c.*23G>T (n.*23G>T)
n.1207G>T
c.*511G>T (n.*511G>T)
c.831G>T (p.Thr277=)
c.816G>T (p.Thr272=)
c.813G>T (p.Thr271=)
c.726G>T (p.Thr242=)
c.645G>T (p.Thr215=)
c.741G>T (p.Thr247=)
n.1239G>T
c.378G>T (p.Thr126=)
c.681G>T (p.Thr227=)
c.393G>T (p.Thr131=)
c.828G>T (p.Thr276=)
8g.71299129C=CA1792728339EYA1c.744G= (p.Thr248=)
c.642G= (p.Thr214=)
c.729G= (p.Thr243=)
c.*23G= (n.*23G=)
n.1207G=
c.*511G= (n.*511G=)
c.831G= (p.Thr277=)
c.816G= (p.Thr272=)
c.813G= (p.Thr271=)
c.726G= (p.Thr242=)
c.645G= (p.Thr215=)
c.741G= (p.Thr247=)
n.1239G=
c.378G= (p.Thr126=)
c.681G= (p.Thr227=)
c.393G= (p.Thr131=)
c.828G= (p.Thr276=)
8g.71299129C>GCA461327868EYA1c.744G>C (p.Thr248=)
c.642G>C (p.Thr214=)
c.729G>C (p.Thr243=)
c.*23G>C (n.*23G>C)
n.1207G>C
c.*511G>C (n.*511G>C)
c.831G>C (p.Thr277=)
c.816G>C (p.Thr272=)
c.813G>C (p.Thr271=)
c.726G>C (p.Thr242=)
c.645G>C (p.Thr215=)
c.741G>C (p.Thr247=)
n.1239G>C
c.378G>C (p.Thr126=)
c.681G>C (p.Thr227=)
c.393G>C (p.Thr131=)
c.828G>C (p.Thr276=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71299129C>TCA182648EYA1c.744G>A (p.Thr248=)
c.642G>A (p.Thr214=)
c.729G>A (p.Thr243=)
c.*23G>A (n.*23G>A)
n.1207G>A
c.*511G>A (n.*511G>A)
c.831G>A (p.Thr277=)
c.816G>A (p.Thr272=)
c.813G>A (p.Thr271=)
c.726G>A (p.Thr242=)
c.645G>A (p.Thr215=)
c.741G>A (p.Thr247=)
n.1239G>A
c.378G>A (p.Thr126=)
c.681G>A (p.Thr227=)
c.393G>A (p.Thr131=)
c.828G>A (p.Thr276=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71299130G>ACA4779675EYA1c.743C>T (p.Thr248Met)
c.641C>T (p.Thr214Met)
c.728C>T (p.Thr243Met)
c.*22C>T (n.*22C>T)
n.1206C>T
c.*510C>T (n.*510C>T)
c.830C>T (p.Thr277Met)
c.815C>T (p.Thr272Met)
c.812C>T (p.Thr271Met)
c.725C>T (p.Thr242Met)
c.644C>T (p.Thr215Met)
c.740C>T (p.Thr247Met)
n.1238C>T
c.377C>T (p.Thr126Met)
c.680C>T (p.Thr227Met)
c.392C>T (p.Thr131Met)
c.827C>T (p.Thr276Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.71299130G>CCA371467241EYA1c.743C>G (p.Thr248Arg)
c.641C>G (p.Thr214Arg)
c.728C>G (p.Thr243Arg)
c.*22C>G (n.*22C>G)
n.1206C>G
c.*510C>G (n.*510C>G)
c.830C>G (p.Thr277Arg)
c.815C>G (p.Thr272Arg)
c.812C>G (p.Thr271Arg)
c.725C>G (p.Thr242Arg)
c.644C>G (p.Thr215Arg)
c.740C>G (p.Thr247Arg)
n.1238C>G
c.377C>G (p.Thr126Arg)
c.680C>G (p.Thr227Arg)
c.392C>G (p.Thr131Arg)
c.827C>G (p.Thr276Arg)
8g.71299130G=CA1792728340EYA1c.743C= (p.Thr248=)
c.641C= (p.Thr214=)
c.728C= (p.Thr243=)
c.*22C= (n.*22C=)
n.1206C=
c.*510C= (n.*510C=)
c.830C= (p.Thr277=)
c.815C= (p.Thr272=)
c.812C= (p.Thr271=)
c.725C= (p.Thr242=)
c.644C= (p.Thr215=)
c.740C= (p.Thr247=)
n.1238C=
c.377C= (p.Thr126=)
c.680C= (p.Thr227=)
c.392C= (p.Thr131=)
c.827C= (p.Thr276=)
8g.71299130G>TCA371467240EYA1c.743C>A (p.Thr248Lys)
c.641C>A (p.Thr214Lys)
c.728C>A (p.Thr243Lys)
c.*22C>A (n.*22C>A)
n.1206C>A
c.*510C>A (n.*510C>A)
c.830C>A (p.Thr277Lys)
c.815C>A (p.Thr272Lys)
c.812C>A (p.Thr271Lys)
c.725C>A (p.Thr242Lys)
c.644C>A (p.Thr215Lys)
c.740C>A (p.Thr247Lys)
n.1238C>A
c.377C>A (p.Thr126Lys)
c.680C>A (p.Thr227Lys)
c.392C>A (p.Thr131Lys)
c.827C>A (p.Thr276Lys)
8g.71299131T>ACA371467242EYA1c.742A>T (p.Thr248Ser)
c.640A>T (p.Thr214Ser)
c.727A>T (p.Thr243Ser)
c.*21A>T (n.*21A>T)
n.1205A>T
c.*509A>T (n.*509A>T)
c.829A>T (p.Thr277Ser)
c.814A>T (p.Thr272Ser)
c.811A>T (p.Thr271Ser)
c.724A>T (p.Thr242Ser)
c.643A>T (p.Thr215Ser)
c.739A>T (p.Thr247Ser)
n.1237A>T
c.376A>T (p.Thr126Ser)
c.679A>T (p.Thr227Ser)
c.391A>T (p.Thr131Ser)
c.826A>T (p.Thr276Ser)
8g.71299131T>CCA371467243EYA1c.742A>G (p.Thr248Ala)
c.640A>G (p.Thr214Ala)
c.727A>G (p.Thr243Ala)
c.*21A>G (n.*21A>G)
n.1205A>G
c.*509A>G (n.*509A>G)
c.829A>G (p.Thr277Ala)
c.814A>G (p.Thr272Ala)
c.811A>G (p.Thr271Ala)
c.724A>G (p.Thr242Ala)
c.643A>G (p.Thr215Ala)
c.739A>G (p.Thr247Ala)
n.1237A>G
c.376A>G (p.Thr126Ala)
c.679A>G (p.Thr227Ala)
c.391A>G (p.Thr131Ala)
c.826A>G (p.Thr276Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.71299131T>GCA371467244EYA1c.742A>C (p.Thr248Pro)
c.640A>C (p.Thr214Pro)
c.727A>C (p.Thr243Pro)
c.*21A>C (n.*21A>C)
n.1205A>C
c.*509A>C (n.*509A>C)
c.829A>C (p.Thr277Pro)
c.814A>C (p.Thr272Pro)
c.811A>C (p.Thr271Pro)
c.724A>C (p.Thr242Pro)
c.643A>C (p.Thr215Pro)
c.739A>C (p.Thr247Pro)
n.1237A>C
c.376A>C (p.Thr126Pro)
c.679A>C (p.Thr227Pro)
c.391A>C (p.Thr131Pro)
c.826A>C (p.Thr276Pro)
8g.71299131T=CA1792728341EYA1c.742A= (p.Thr248=)
c.640A= (p.Thr214=)
c.727A= (p.Thr243=)
c.*21A= (n.*21A=)
n.1205A=
c.*509A= (n.*509A=)
c.829A= (p.Thr277=)
c.814A= (p.Thr272=)
c.811A= (p.Thr271=)
c.724A= (p.Thr242=)
c.643A= (p.Thr215=)
c.739A= (p.Thr247=)
n.1237A=
c.376A= (p.Thr126=)
c.679A= (p.Thr227=)
c.391A= (p.Thr131=)
c.826A= (p.Thr276=)
8g.71299132T>ACA461327869EYA1c.741A>T (p.Pro247=)
c.639A>T (p.Pro213=)
c.726A>T (p.Pro242=)
c.*20A>T (n.*20A>T)
n.1204A>T
c.*508A>T (n.*508A>T)
c.828A>T (p.Pro276=)
c.813A>T (p.Pro271=)
c.810A>T (p.Pro270=)
c.723A>T (p.Pro241=)
c.642A>T (p.Pro214=)
c.738A>T (p.Pro246=)
n.1236A>T
c.375A>T (p.Pro125=)
c.678A>T (p.Pro226=)
c.390A>T (p.Pro130=)
c.825A>T (p.Pro275=)
8g.71299132T>CCA461327870EYA1c.741A>G (p.Pro247=)
c.639A>G (p.Pro213=)
c.726A>G (p.Pro242=)
c.*20A>G (n.*20A>G)
n.1204A>G
c.*508A>G (n.*508A>G)
c.828A>G (p.Pro276=)
c.813A>G (p.Pro271=)
c.810A>G (p.Pro270=)
c.723A>G (p.Pro241=)
c.642A>G (p.Pro214=)
c.738A>G (p.Pro246=)
n.1236A>G
c.375A>G (p.Pro125=)
c.678A>G (p.Pro226=)
c.390A>G (p.Pro130=)
c.825A>G (p.Pro275=)
8g.71299132T>GCA461327871EYA1c.741A>C (p.Pro247=)
c.639A>C (p.Pro213=)
c.726A>C (p.Pro242=)
c.*20A>C (n.*20A>C)
n.1204A>C
c.*508A>C (n.*508A>C)
c.828A>C (p.Pro276=)
c.813A>C (p.Pro271=)
c.810A>C (p.Pro270=)
c.723A>C (p.Pro241=)
c.642A>C (p.Pro214=)
c.738A>C (p.Pro246=)
n.1236A>C
c.375A>C (p.Pro125=)
c.678A>C (p.Pro226=)
c.390A>C (p.Pro130=)
c.825A>C (p.Pro275=)
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=)

Number of alleles fetched