Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.88089403T>ACA386000992CEP290c.3658A>T (p.Lys1220Ter)
c.942A>T
c.*1829A>T (n.*1829A>T)
n.2018A>T
c.483A>T (n.483A>T)
c.3637A>T (p.Lys1213Ter)
c.4519A>T (p.Lys1507Ter)
n.3885A>T
c.4426A>T (p.Lys1476Ter)
n.2586A>T
n.9384A>T
c.*1571A>T (n.*1571A>T)
c.3664A>T (p.Lys1222Ter)
c.838A>T (p.Lys280Ter)
c.3751A>T (p.Lys1251Ter)
c.2980A>T (p.Lys994Ter)
n.4863A>T
12g.88089403T>CCA386000993CEP290c.3658A>G (p.Lys1220Glu)
c.942A>G
c.*1829A>G (n.*1829A>G)
n.2018A>G
c.483A>G (n.483A>G)
c.3637A>G (p.Lys1213Glu)
c.4519A>G (p.Lys1507Glu)
n.3885A>G
c.4426A>G (p.Lys1476Glu)
n.2586A>G
n.9384A>G
c.*1571A>G (n.*1571A>G)
c.3664A>G (p.Lys1222Glu)
c.838A>G (p.Lys280Glu)
c.3751A>G (p.Lys1251Glu)
c.2980A>G (p.Lys994Glu)
n.4863A>G
12g.88089403T>GCA386000994CEP290c.3658A>C (p.Lys1220Gln)
c.942A>C
c.*1829A>C (n.*1829A>C)
n.2018A>C
c.483A>C (n.483A>C)
c.3637A>C (p.Lys1213Gln)
c.4519A>C (p.Lys1507Gln)
n.3885A>C
c.4426A>C (p.Lys1476Gln)
n.2586A>C
n.9384A>C
c.*1571A>C (n.*1571A>C)
c.3664A>C (p.Lys1222Gln)
c.838A>C (p.Lys280Gln)
c.3751A>C (p.Lys1251Gln)
c.2980A>C (p.Lys994Gln)
n.4863A>C
12g.88089404A>CCA481077048CEP290c.3657T>G (p.Gly1219=)
c.941T>G
c.*1828T>G (n.*1828T>G)
n.2017T>G
c.482T>G (n.482T>G)
c.3636T>G (p.Gly1212=)
c.4518T>G (p.Gly1506=)
n.3884T>G
c.4425T>G (p.Gly1475=)
n.2585T>G
n.9383T>G
c.*1570T>G (n.*1570T>G)
c.3663T>G (p.Gly1221=)
c.837T>G (p.Gly279=)
c.3750T>G (p.Gly1250=)
c.2979T>G (p.Gly993=)
n.4862T>G
12g.88089404A>GCA481077049CEP290c.3657T>C (p.Gly1219=)
c.941T>C
c.*1828T>C (n.*1828T>C)
n.2017T>C
c.482T>C (n.482T>C)
c.3636T>C (p.Gly1212=)
c.4518T>C (p.Gly1506=)
n.3884T>C
c.4425T>C (p.Gly1475=)
n.2585T>C
n.9383T>C
c.*1570T>C (n.*1570T>C)
c.3663T>C (p.Gly1221=)
c.837T>C (p.Gly279=)
c.3750T>C (p.Gly1250=)
c.2979T>C (p.Gly993=)
n.4862T>C
12g.88089404A>TCA481077050CEP290c.3657T>A (p.Gly1219=)
c.941T>A
c.*1828T>A (n.*1828T>A)
n.2017T>A
c.482T>A (n.482T>A)
c.3636T>A (p.Gly1212=)
c.4518T>A (p.Gly1506=)
n.3884T>A
c.4425T>A (p.Gly1475=)
n.2585T>A
n.9383T>A
c.*1570T>A (n.*1570T>A)
c.3663T>A (p.Gly1221=)
c.837T>A (p.Gly279=)
c.3750T>A (p.Gly1250=)
c.2979T>A (p.Gly993=)
n.4862T>A
12g.88089405C>ACA386000995CEP290c.3656G>T (p.Gly1219Val)
c.940G>T
c.*1827G>T (n.*1827G>T)
n.2016G>T
c.481G>T (n.481G>T)
c.3635G>T (p.Gly1212Val)
c.4517G>T (p.Gly1506Val)
n.3883G>T
c.4424G>T (p.Gly1475Val)
n.2584G>T
n.9382G>T
c.*1569G>T (n.*1569G>T)
c.3662G>T (p.Gly1221Val)
c.836G>T (p.Gly279Val)
c.3749G>T (p.Gly1250Val)
c.2978G>T (p.Gly993Val)
n.4861G>T
12g.88089405C=CA2052918978CEP290c.3656G= (p.Gly1219=)
c.940G=
c.*1827G= (n.*1827G=)
n.2016G=
c.481G= (n.481G=)
c.3635G= (p.Gly1212=)
c.4517G= (p.Gly1506=)
n.3883G=
c.4424G= (p.Gly1475=)
n.2584G=
n.9382G=
c.*1569G= (n.*1569G=)
c.3662G= (p.Gly1221=)
c.836G= (p.Gly279=)
c.3749G= (p.Gly1250=)
c.2978G= (p.Gly993=)
n.4861G=
12g.88089405C>GCA386000996CEP290c.3656G>C (p.Gly1219Ala)
c.940G>C
c.*1827G>C (n.*1827G>C)
n.2016G>C
c.481G>C (n.481G>C)
c.3635G>C (p.Gly1212Ala)
c.4517G>C (p.Gly1506Ala)
n.3883G>C
c.4424G>C (p.Gly1475Ala)
n.2584G>C
n.9382G>C
c.*1569G>C (n.*1569G>C)
c.3662G>C (p.Gly1221Ala)
c.836G>C (p.Gly279Ala)
c.3749G>C (p.Gly1250Ala)
c.2978G>C (p.Gly993Ala)
n.4861G>C
12g.88089405C>TCA386000997CEP290c.3656G>A (p.Gly1219Asp)
c.940G>A
c.*1827G>A (n.*1827G>A)
n.2016G>A
c.481G>A (n.481G>A)
c.3635G>A (p.Gly1212Asp)
c.4517G>A (p.Gly1506Asp)
n.3883G>A
c.4424G>A (p.Gly1475Asp)
n.2584G>A
n.9382G>A
c.*1569G>A (n.*1569G>A)
c.3662G>A (p.Gly1221Asp)
c.836G>A (p.Gly279Asp)
c.3749G>A (p.Gly1250Asp)
c.2978G>A (p.Gly993Asp)
n.4861G>A
 dbSNP gnomAD v3 gnomAD v4
12g.88089406C>ACA386000998CEP290c.3655G>T (p.Gly1219Cys)
c.939G>T
c.*1826G>T (n.*1826G>T)
n.2015G>T
c.480G>T (n.480G>T)
c.3634G>T (p.Gly1212Cys)
c.4516G>T (p.Gly1506Cys)
n.3882G>T
c.4423G>T (p.Gly1475Cys)
n.2583G>T
n.9381G>T
c.*1568G>T (n.*1568G>T)
c.3661G>T (p.Gly1221Cys)
c.835G>T (p.Gly279Cys)
c.3748G>T (p.Gly1250Cys)
c.2977G>T (p.Gly993Cys)
n.4860G>T
12g.88089406C>GCA386000999CEP290c.3655G>C (p.Gly1219Arg)
c.939G>C
c.*1826G>C (n.*1826G>C)
n.2015G>C
c.480G>C (n.480G>C)
c.3634G>C (p.Gly1212Arg)
c.4516G>C (p.Gly1506Arg)
n.3882G>C
c.4423G>C (p.Gly1475Arg)
n.2583G>C
n.9381G>C
c.*1568G>C (n.*1568G>C)
c.3661G>C (p.Gly1221Arg)
c.835G>C (p.Gly279Arg)
c.3748G>C (p.Gly1250Arg)
c.2977G>C (p.Gly993Arg)
n.4860G>C
12g.88089406C>TCA386001000CEP290c.3655G>A (p.Gly1219Ser)
c.939G>A
c.*1826G>A (n.*1826G>A)
n.2015G>A
c.480G>A (n.480G>A)
c.3634G>A (p.Gly1212Ser)
c.4516G>A (p.Gly1506Ser)
n.3882G>A
c.4423G>A (p.Gly1475Ser)
n.2583G>A
n.9381G>A
c.*1568G>A (n.*1568G>A)
c.3661G>A (p.Gly1221Ser)
c.835G>A (p.Gly279Ser)
c.3748G>A (p.Gly1250Ser)
c.2977G>A (p.Gly993Ser)
n.4860G>A
12g.88089407A=CA2052918986CEP290c.3654T= (p.Leu1218=)
c.938T=
c.*1825T= (n.*1825T=)
n.2014T=
c.479T= (n.479T=)
c.3633T= (p.Leu1211=)
c.4515T= (p.Leu1505=)
n.3881T=
c.4422T= (p.Leu1474=)
n.2582T=
n.9380T=
c.*1567T= (n.*1567T=)
c.3660T= (p.Leu1220=)
c.834T= (p.Leu278=)
c.3747T= (p.Leu1249=)
c.2976T= (p.Leu992=)
n.4859T=
12g.88089407A>CCA481077051CEP290c.3654T>G (p.Leu1218=)
c.938T>G
c.*1825T>G (n.*1825T>G)
n.2014T>G
c.479T>G (n.479T>G)
c.3633T>G (p.Leu1211=)
c.4515T>G (p.Leu1505=)
n.3881T>G
c.4422T>G (p.Leu1474=)
n.2582T>G
n.9380T>G
c.*1567T>G (n.*1567T>G)
c.3660T>G (p.Leu1220=)
c.834T>G (p.Leu278=)
c.3747T>G (p.Leu1249=)
c.2976T>G (p.Leu992=)
n.4859T>G
12g.88089407A>GCA202523CEP290c.3654T>C (p.Leu1218=)
c.938T>C
c.*1825T>C (n.*1825T>C)
n.2014T>C
c.479T>C (n.479T>C)
c.3633T>C (p.Leu1211=)
c.4515T>C (p.Leu1505=)
n.3881T>C
c.4422T>C (p.Leu1474=)
n.2582T>C
n.9380T>C
c.*1567T>C (n.*1567T>C)
c.3660T>C (p.Leu1220=)
c.834T>C (p.Leu278=)
c.3747T>C (p.Leu1249=)
c.2976T>C (p.Leu992=)
n.4859T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88089407A>TCA481077052CEP290c.3654T>A (p.Leu1218=)
c.938T>A
c.*1825T>A (n.*1825T>A)
n.2014T>A
c.479T>A (n.479T>A)
c.3633T>A (p.Leu1211=)
c.4515T>A (p.Leu1505=)
n.3881T>A
c.4422T>A (p.Leu1474=)
n.2582T>A
n.9380T>A
c.*1567T>A (n.*1567T>A)
c.3660T>A (p.Leu1220=)
c.834T>A (p.Leu278=)
c.3747T>A (p.Leu1249=)
c.2976T>A (p.Leu992=)
n.4859T>A
 gnomAD v4
12g.88089408A>CCA386001003CEP290c.3653T>G (p.Leu1218Arg)
c.937T>G
c.*1824T>G (n.*1824T>G)
n.2013T>G
c.478T>G (n.478T>G)
c.3632T>G (p.Leu1211Arg)
c.4514T>G (p.Leu1505Arg)
n.3880T>G
c.4421T>G (p.Leu1474Arg)
n.2581T>G
n.9379T>G
c.*1566T>G (n.*1566T>G)
c.3659T>G (p.Leu1220Arg)
c.833T>G (p.Leu278Arg)
c.3746T>G (p.Leu1249Arg)
c.2975T>G (p.Leu992Arg)
n.4858T>G
12g.88089408A>GCA386001002CEP290c.3653T>C (p.Leu1218Pro)
c.937T>C
c.*1824T>C (n.*1824T>C)
n.2013T>C
c.478T>C (n.478T>C)
c.3632T>C (p.Leu1211Pro)
c.4514T>C (p.Leu1505Pro)
n.3880T>C
c.4421T>C (p.Leu1474Pro)
n.2581T>C
n.9379T>C
c.*1566T>C (n.*1566T>C)
c.3659T>C (p.Leu1220Pro)
c.833T>C (p.Leu278Pro)
c.3746T>C (p.Leu1249Pro)
c.2975T>C (p.Leu992Pro)
n.4858T>C
12g.88089408A>TCA386001001CEP290c.3653T>A (p.Leu1218His)
c.937T>A
c.*1824T>A (n.*1824T>A)
n.2013T>A
c.478T>A (n.478T>A)
c.3632T>A (p.Leu1211His)
c.4514T>A (p.Leu1505His)
n.3880T>A
c.4421T>A (p.Leu1474His)
n.2581T>A
n.9379T>A
c.*1566T>A (n.*1566T>A)
c.3659T>A (p.Leu1220His)
c.833T>A (p.Leu278His)
c.3746T>A (p.Leu1249His)
c.2975T>A (p.Leu992His)
n.4858T>A
12g.88089409G>ACA386001004CEP290c.3652C>T (p.Leu1218Phe)
c.936C>T
c.*1823C>T (n.*1823C>T)
n.2012C>T
c.477C>T (n.477C>T)
c.3631C>T (p.Leu1211Phe)
c.4513C>T (p.Leu1505Phe)
n.3879C>T
c.4420C>T (p.Leu1474Phe)
n.2580C>T
n.9378C>T
c.*1565C>T (n.*1565C>T)
c.3658C>T (p.Leu1220Phe)
c.832C>T (p.Leu278Phe)
c.3745C>T (p.Leu1249Phe)
c.2974C>T (p.Leu992Phe)
n.4857C>T
 gnomAD v4
12g.88089409G>CCA386001005CEP290c.3652C>G (p.Leu1218Val)
c.936C>G
c.*1823C>G (n.*1823C>G)
n.2012C>G
c.477C>G (n.477C>G)
c.3631C>G (p.Leu1211Val)
c.4513C>G (p.Leu1505Val)
n.3879C>G
c.4420C>G (p.Leu1474Val)
n.2580C>G
n.9378C>G
c.*1565C>G (n.*1565C>G)
c.3658C>G (p.Leu1220Val)
c.832C>G (p.Leu278Val)
c.3745C>G (p.Leu1249Val)
c.2974C>G (p.Leu992Val)
n.4857C>G
12g.88089409G>TCA386001006CEP290c.3652C>A (p.Leu1218Ile)
c.936C>A
c.*1823C>A (n.*1823C>A)
n.2012C>A
c.477C>A (n.477C>A)
c.3631C>A (p.Leu1211Ile)
c.4513C>A (p.Leu1505Ile)
n.3879C>A
c.4420C>A (p.Leu1474Ile)
n.2580C>A
n.9378C>A
c.*1565C>A (n.*1565C>A)
c.3658C>A (p.Leu1220Ile)
c.832C>A (p.Leu278Ile)
c.3745C>A (p.Leu1249Ile)
c.2974C>A (p.Leu992Ile)
n.4857C>A
12g.88089409_88089418delCA2740092489CEP290c.3643_3652del (p.Ala1215LeufsTer21)
c.927_936del
c.*1814_*1823del (n.*1814_*1823del)
n.2003_2012del
c.468_477del (n.468_477del)
c.3622_3631del (p.Ala1208LeufsTer21)
c.4504_4513del (p.Ala1502LeufsTer21)
n.3870_3879del
c.4411_4420del (p.Ala1471LeufsTer21)
n.2571_2580del
n.9369_9378del
c.*1556_*1565del (n.*1556_*1565del)
c.3649_3658del (p.Ala1217LeufsTer21)
c.823_832del (p.Ala275LeufsTer21)
c.3736_3745del (p.Ala1246LeufsTer21)
c.2965_2974del (p.Ala989LeufsTer21)
n.4848_4857del
 ClinVar
12g.88089410A=CA2052918991CEP290c.3651T= (p.Ala1217=)
c.935T=
c.*1822T= (n.*1822T=)
n.2011T=
c.476T= (n.476T=)
c.3630T= (p.Ala1210=)
c.4512T= (p.Ala1504=)
n.3878T=
c.4419T= (p.Ala1473=)
n.2579T=
n.9377T=
c.*1564T= (n.*1564T=)
c.3657T= (p.Ala1219=)
c.831T= (p.Ala277=)
c.3744T= (p.Ala1248=)
c.2973T= (p.Ala991=)
n.4856T=
12g.88089410A>CCA481077053CEP290c.3651T>G (p.Ala1217=)
c.935T>G
c.*1822T>G (n.*1822T>G)
n.2011T>G
c.476T>G (n.476T>G)
c.3630T>G (p.Ala1210=)
c.4512T>G (p.Ala1504=)
n.3878T>G
c.4419T>G (p.Ala1473=)
n.2579T>G
n.9377T>G
c.*1564T>G (n.*1564T>G)
c.3657T>G (p.Ala1219=)
c.831T>G (p.Ala277=)
c.3744T>G (p.Ala1248=)
c.2973T>G (p.Ala991=)
n.4856T>G
12g.88089410A>GCA6712101CEP290c.3651T>C (p.Ala1217=)
c.935T>C
c.*1822T>C (n.*1822T>C)
n.2011T>C
c.476T>C (n.476T>C)
c.3630T>C (p.Ala1210=)
c.4512T>C (p.Ala1504=)
n.3878T>C
c.4419T>C (p.Ala1473=)
n.2579T>C
n.9377T>C
c.*1564T>C (n.*1564T>C)
c.3657T>C (p.Ala1219=)
c.831T>C (p.Ala277=)
c.3744T>C (p.Ala1248=)
c.2973T>C (p.Ala991=)
n.4856T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.88089410A>TCA481077054CEP290c.3651T>A (p.Ala1217=)
c.935T>A
c.*1822T>A (n.*1822T>A)
n.2011T>A
c.476T>A (n.476T>A)
c.3630T>A (p.Ala1210=)
c.4512T>A (p.Ala1504=)
n.3878T>A
c.4419T>A (p.Ala1473=)
n.2579T>A
n.9377T>A
c.*1564T>A (n.*1564T>A)
c.3657T>A (p.Ala1219=)
c.831T>A (p.Ala277=)
c.3744T>A (p.Ala1248=)
c.2973T>A (p.Ala991=)
n.4856T>A
12g.88089411G>ACA386001007CEP290c.3650C>T (p.Ala1217Val)
c.934C>T
c.*1821C>T (n.*1821C>T)
n.2010C>T
c.475C>T (n.475C>T)
c.3629C>T (p.Ala1210Val)
c.4511C>T (p.Ala1504Val)
n.3877C>T
c.4418C>T (p.Ala1473Val)
n.2578C>T
n.9376C>T
c.*1563C>T (n.*1563C>T)
c.3656C>T (p.Ala1219Val)
c.830C>T (p.Ala277Val)
c.3743C>T (p.Ala1248Val)
c.2972C>T (p.Ala991Val)
n.4855C>T
 ClinVar
12g.88089411G>CCA386001008CEP290c.3650C>G (p.Ala1217Gly)
c.934C>G
c.*1821C>G (n.*1821C>G)
n.2010C>G
c.475C>G (n.475C>G)
c.3629C>G (p.Ala1210Gly)
c.4511C>G (p.Ala1504Gly)
n.3877C>G
c.4418C>G (p.Ala1473Gly)
n.2578C>G
n.9376C>G
c.*1563C>G (n.*1563C>G)
c.3656C>G (p.Ala1219Gly)
c.830C>G (p.Ala277Gly)
c.3743C>G (p.Ala1248Gly)
c.2972C>G (p.Ala991Gly)
n.4855C>G
 gnomAD v4
12g.88089411G>TCA386001009CEP290c.3650C>A (p.Ala1217Asp)
c.934C>A
c.*1821C>A (n.*1821C>A)
n.2010C>A
c.475C>A (n.475C>A)
c.3629C>A (p.Ala1210Asp)
c.4511C>A (p.Ala1504Asp)
n.3877C>A
c.4418C>A (p.Ala1473Asp)
n.2578C>A
n.9376C>A
c.*1563C>A (n.*1563C>A)
c.3656C>A (p.Ala1219Asp)
c.830C>A (p.Ala277Asp)
c.3743C>A (p.Ala1248Asp)
c.2972C>A (p.Ala991Asp)
n.4855C>A
12g.88089412C>ACA386001010CEP290c.3649G>T (p.Ala1217Ser)
c.933G>T
c.*1820G>T (n.*1820G>T)
n.2009G>T
c.474G>T (n.474G>T)
c.3628G>T (p.Ala1210Ser)
c.4510G>T (p.Ala1504Ser)
n.3876G>T
c.4417G>T (p.Ala1473Ser)
n.2577G>T
n.9375G>T
c.*1562G>T (n.*1562G>T)
c.3655G>T (p.Ala1219Ser)
c.829G>T (p.Ala277Ser)
c.3742G>T (p.Ala1248Ser)
c.2971G>T (p.Ala991Ser)
n.4854G>T
12g.88089412C=CA2052918993CEP290c.3649G= (p.Ala1217=)
c.933G=
c.*1820G= (n.*1820G=)
n.2009G=
c.474G= (n.474G=)
c.3628G= (p.Ala1210=)
c.4510G= (p.Ala1504=)
n.3876G=
c.4417G= (p.Ala1473=)
n.2577G=
n.9375G=
c.*1562G= (n.*1562G=)
c.3655G= (p.Ala1219=)
c.829G= (p.Ala277=)
c.3742G= (p.Ala1248=)
c.2971G= (p.Ala991=)
n.4854G=
12g.88089412C>GCA6712102CEP290c.3649G>C (p.Ala1217Pro)
c.933G>C
c.*1820G>C (n.*1820G>C)
n.2009G>C
c.474G>C (n.474G>C)
c.3628G>C (p.Ala1210Pro)
c.4510G>C (p.Ala1504Pro)
n.3876G>C
c.4417G>C (p.Ala1473Pro)
n.2577G>C
n.9375G>C
c.*1562G>C (n.*1562G>C)
c.3655G>C (p.Ala1219Pro)
c.829G>C (p.Ala277Pro)
c.3742G>C (p.Ala1248Pro)
c.2971G>C (p.Ala991Pro)
n.4854G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.88089412C>TCA386001011CEP290c.3649G>A (p.Ala1217Thr)
c.933G>A
c.*1820G>A (n.*1820G>A)
n.2009G>A
c.474G>A (n.474G>A)
c.3628G>A (p.Ala1210Thr)
c.4510G>A (p.Ala1504Thr)
n.3876G>A
c.4417G>A (p.Ala1473Thr)
n.2577G>A
n.9375G>A
c.*1562G>A (n.*1562G>A)
c.3655G>A (p.Ala1219Thr)
c.829G>A (p.Ala277Thr)
c.3742G>A (p.Ala1248Thr)
c.2971G>A (p.Ala991Thr)
n.4854G>A
12g.88089413A>CCA481077057CEP290c.3648T>G (p.Thr1216=)
c.932T>G
c.*1819T>G (n.*1819T>G)
n.2008T>G
c.473T>G (n.473T>G)
c.3627T>G (p.Thr1209=)
c.4509T>G (p.Thr1503=)
n.3875T>G
c.4416T>G (p.Thr1472=)
n.2576T>G
n.9374T>G
c.*1561T>G (n.*1561T>G)
c.3654T>G (p.Thr1218=)
c.828T>G (p.Thr276=)
c.3741T>G (p.Thr1247=)
c.2970T>G (p.Thr990=)
n.4853T>G
12g.88089413A>GCA481077056CEP290c.3648T>C (p.Thr1216=)
c.932T>C
c.*1819T>C (n.*1819T>C)
n.2008T>C
c.473T>C (n.473T>C)
c.3627T>C (p.Thr1209=)
c.4509T>C (p.Thr1503=)
n.3875T>C
c.4416T>C (p.Thr1472=)
n.2576T>C
n.9374T>C
c.*1561T>C (n.*1561T>C)
c.3654T>C (p.Thr1218=)
c.828T>C (p.Thr276=)
c.3741T>C (p.Thr1247=)
c.2970T>C (p.Thr990=)
n.4853T>C
 gnomAD v4
12g.88089413A>TCA481077055CEP290c.3648T>A (p.Thr1216=)
c.932T>A
c.*1819T>A (n.*1819T>A)
n.2008T>A
c.473T>A (n.473T>A)
c.3627T>A (p.Thr1209=)
c.4509T>A (p.Thr1503=)
n.3875T>A
c.4416T>A (p.Thr1472=)
n.2576T>A
n.9374T>A
c.*1561T>A (n.*1561T>A)
c.3654T>A (p.Thr1218=)
c.828T>A (p.Thr276=)
c.3741T>A (p.Thr1247=)
c.2970T>A (p.Thr990=)
n.4853T>A
12g.88089414G>ACA386001012CEP290c.3647C>T (p.Thr1216Ile)
c.931C>T
c.*1818C>T (n.*1818C>T)
n.2007C>T
c.472C>T (n.472C>T)
c.3626C>T (p.Thr1209Ile)
c.4508C>T (p.Thr1503Ile)
n.3874C>T
c.4415C>T (p.Thr1472Ile)
n.2575C>T
n.9373C>T
c.*1560C>T (n.*1560C>T)
c.3653C>T (p.Thr1218Ile)
c.827C>T (p.Thr276Ile)
c.3740C>T (p.Thr1247Ile)
c.2969C>T (p.Thr990Ile)
n.4852C>T
 dbSNP gnomAD v4
12g.88089414G>CCA386001014CEP290c.3647C>G (p.Thr1216Ser)
c.931C>G
c.*1818C>G (n.*1818C>G)
n.2007C>G
c.472C>G (n.472C>G)
c.3626C>G (p.Thr1209Ser)
c.4508C>G (p.Thr1503Ser)
n.3874C>G
c.4415C>G (p.Thr1472Ser)
n.2575C>G
n.9373C>G
c.*1560C>G (n.*1560C>G)
c.3653C>G (p.Thr1218Ser)
c.827C>G (p.Thr276Ser)
c.3740C>G (p.Thr1247Ser)
c.2969C>G (p.Thr990Ser)
n.4852C>G
12g.88089414G=CA2052918999CEP290c.3647C= (p.Thr1216=)
c.931C=
c.*1818C= (n.*1818C=)
n.2007C=
c.472C= (n.472C=)
c.3626C= (p.Thr1209=)
c.4508C= (p.Thr1503=)
n.3874C=
c.4415C= (p.Thr1472=)
n.2575C=
n.9373C=
c.*1560C= (n.*1560C=)
c.3653C= (p.Thr1218=)
c.827C= (p.Thr276=)
c.3740C= (p.Thr1247=)
c.2969C= (p.Thr990=)
n.4852C=
12g.88089414G>TCA386001013CEP290c.3647C>A (p.Thr1216Asn)
c.931C>A
c.*1818C>A (n.*1818C>A)
n.2007C>A
c.472C>A (n.472C>A)
c.3626C>A (p.Thr1209Asn)
c.4508C>A (p.Thr1503Asn)
n.3874C>A
c.4415C>A (p.Thr1472Asn)
n.2575C>A
n.9373C>A
c.*1560C>A (n.*1560C>A)
c.3653C>A (p.Thr1218Asn)
c.827C>A (p.Thr276Asn)
c.3740C>A (p.Thr1247Asn)
c.2969C>A (p.Thr990Asn)
n.4852C>A
12g.88089415T>ACA386001015CEP290c.3646A>T (p.Thr1216Ser)
c.930A>T
c.*1817A>T (n.*1817A>T)
n.2006A>T
c.471A>T (n.471A>T)
c.3625A>T (p.Thr1209Ser)
c.4507A>T (p.Thr1503Ser)
n.3873A>T
c.4414A>T (p.Thr1472Ser)
n.2574A>T
n.9372A>T
c.*1559A>T (n.*1559A>T)
c.3652A>T (p.Thr1218Ser)
c.826A>T (p.Thr276Ser)
c.3739A>T (p.Thr1247Ser)
c.2968A>T (p.Thr990Ser)
n.4851A>T
12g.88089415T>CCA6712103CEP290c.3646A>G (p.Thr1216Ala)
c.930A>G
c.*1817A>G (n.*1817A>G)
n.2006A>G
c.471A>G (n.471A>G)
c.3625A>G (p.Thr1209Ala)
c.4507A>G (p.Thr1503Ala)
n.3873A>G
c.4414A>G (p.Thr1472Ala)
n.2574A>G
n.9372A>G
c.*1559A>G (n.*1559A>G)
c.3652A>G (p.Thr1218Ala)
c.826A>G (p.Thr276Ala)
c.3739A>G (p.Thr1247Ala)
c.2968A>G (p.Thr990Ala)
n.4851A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.88089415T>GCA386001016CEP290c.3646A>C (p.Thr1216Pro)
c.930A>C
c.*1817A>C (n.*1817A>C)
n.2006A>C
c.471A>C (n.471A>C)
c.3625A>C (p.Thr1209Pro)
c.4507A>C (p.Thr1503Pro)
n.3873A>C
c.4414A>C (p.Thr1472Pro)
n.2574A>C
n.9372A>C
c.*1559A>C (n.*1559A>C)
c.3652A>C (p.Thr1218Pro)
c.826A>C (p.Thr276Pro)
c.3739A>C (p.Thr1247Pro)
c.2968A>C (p.Thr990Pro)
n.4851A>C
12g.88089415T=CA2052919002CEP290c.3646A= (p.Thr1216=)
c.930A=
c.*1817A= (n.*1817A=)
n.2006A=
c.471A= (n.471A=)
c.3625A= (p.Thr1209=)
c.4507A= (p.Thr1503=)
n.3873A=
c.4414A= (p.Thr1472=)
n.2574A=
n.9372A=
c.*1559A= (n.*1559A=)
c.3652A= (p.Thr1218=)
c.826A= (p.Thr276=)
c.3739A= (p.Thr1247=)
c.2968A= (p.Thr990=)
n.4851A=
12g.88089416A>CCA481077058CEP290c.3645T>G (p.Ala1215=)
c.929T>G
c.*1816T>G (n.*1816T>G)
n.2005T>G
c.470T>G (n.470T>G)
c.3624T>G (p.Ala1208=)
c.4506T>G (p.Ala1502=)
n.3872T>G
c.4413T>G (p.Ala1471=)
n.2573T>G
n.9371T>G
c.*1558T>G (n.*1558T>G)
c.3651T>G (p.Ala1217=)
c.825T>G (p.Ala275=)
c.3738T>G (p.Ala1246=)
c.2967T>G (p.Ala989=)
n.4850T>G
12g.88089416A>GCA481077059CEP290c.3645T>C (p.Ala1215=)
c.929T>C
c.*1816T>C (n.*1816T>C)
n.2005T>C
c.470T>C (n.470T>C)
c.3624T>C (p.Ala1208=)
c.4506T>C (p.Ala1502=)
n.3872T>C
c.4413T>C (p.Ala1471=)
n.2573T>C
n.9371T>C
c.*1558T>C (n.*1558T>C)
c.3651T>C (p.Ala1217=)
c.825T>C (p.Ala275=)
c.3738T>C (p.Ala1246=)
c.2967T>C (p.Ala989=)
n.4850T>C
12g.88089416A>TCA481077060CEP290c.3645T>A (p.Ala1215=)
c.929T>A
c.*1816T>A (n.*1816T>A)
n.2005T>A
c.470T>A (n.470T>A)
c.3624T>A (p.Ala1208=)
c.4506T>A (p.Ala1502=)
n.3872T>A
c.4413T>A (p.Ala1471=)
n.2573T>A
n.9371T>A
c.*1558T>A (n.*1558T>A)
c.3651T>A (p.Ala1217=)
c.825T>A (p.Ala275=)
c.3738T>A (p.Ala1246=)
c.2967T>A (p.Ala989=)
n.4850T>A
12g.88089417G>ACA386001019CEP290c.3644C>T (p.Ala1215Val)
c.928C>T
c.*1815C>T (n.*1815C>T)
n.2004C>T
c.469C>T (n.469C>T)
c.3623C>T (p.Ala1208Val)
c.4505C>T (p.Ala1502Val)
n.3871C>T
c.4412C>T (p.Ala1471Val)
n.2572C>T
n.9370C>T
c.*1557C>T (n.*1557C>T)
c.3650C>T (p.Ala1217Val)
c.824C>T (p.Ala275Val)
c.3737C>T (p.Ala1246Val)
c.2966C>T (p.Ala989Val)
n.4849C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched