Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73572413A>CCA347283465ALMS1c.10155A>C (p.Lys3385Asn)
c.3241A>C
c.7436A>C
c.4602A>C (p.Lys1534Asn)
c.7481A>C
c.10536A>C (p.Lys3512Asn)
c.690A>C (p.Lys230Asn)
c.1892A>C
c.1633A>C
c.4027A>C (n.4027A>C)
c.10410A>C (p.Lys3470Asn)
n.4339A>C
c.10539A>C (p.Lys3513Asn)
2g.73572413A>GCA427024649ALMS1c.10155A>G (p.Lys3385=)
c.3241A>G
c.7436A>G
c.4602A>G (p.Lys1534=)
c.7481A>G
c.10536A>G (p.Lys3512=)
c.690A>G (p.Lys230=)
c.1892A>G
c.1633A>G
c.4027A>G (n.4027A>G)
c.10410A>G (p.Lys3470=)
n.4339A>G
c.10539A>G (p.Lys3513=)
2g.73572413A>TCA347283466ALMS1c.10155A>T (p.Lys3385Asn)
c.3241A>T
c.7436A>T
c.4602A>T (p.Lys1534Asn)
c.7481A>T
c.10536A>T (p.Lys3512Asn)
c.690A>T (p.Lys230Asn)
c.1892A>T
c.1633A>T
c.4027A>T (n.4027A>T)
c.10410A>T (p.Lys3470Asn)
n.4339A>T
c.10539A>T (p.Lys3513Asn)
2g.73572414G>ACA347283469ALMS1c.10156G>A (p.Asp3386Asn)
c.3242G>A
c.7437G>A
c.4603G>A (p.Asp1535Asn)
c.7482G>A
c.10537G>A (p.Asp3513Asn)
c.691G>A (p.Asp231Asn)
c.1893G>A
c.1634G>A
c.4028G>A (n.4028G>A)
c.10411G>A (p.Asp3471Asn)
n.4340G>A
c.10540G>A (p.Asp3514Asn)
2g.73572414G>CCA347283471ALMS1c.10156G>C (p.Asp3386His)
c.3242G>C
c.7437G>C
c.4603G>C (p.Asp1535His)
c.7482G>C
c.10537G>C (p.Asp3513His)
c.691G>C (p.Asp231His)
c.1893G>C
c.1634G>C
c.4028G>C (n.4028G>C)
c.10411G>C (p.Asp3471His)
n.4340G>C
c.10540G>C (p.Asp3514His)
2g.73572414G=CA1261021107ALMS1c.10156G= (p.Asp3386=)
c.3242G=
c.7437G=
c.4603G= (p.Asp1535=)
c.7482G=
c.10537G= (p.Asp3513=)
c.691G= (p.Asp231=)
c.1893G=
c.1634G=
c.4028G= (n.4028G=)
c.10411G= (p.Asp3471=)
n.4340G=
c.10540G= (p.Asp3514=)
2g.73572414G>TCA347283474ALMS1c.10156G>T (p.Asp3386Tyr)
c.3242G>T
c.7437G>T
c.4603G>T (p.Asp1535Tyr)
c.7482G>T
c.10537G>T (p.Asp3513Tyr)
c.691G>T (p.Asp231Tyr)
c.1893G>T
c.1634G>T
c.4028G>T (n.4028G>T)
c.10411G>T (p.Asp3471Tyr)
n.4340G>T
c.10540G>T (p.Asp3514Tyr)
 ClinVar dbSNP
2g.73572415A=CA1261021116ALMS1c.10157A= (p.Asp3386=)
c.3243A=
c.7438A=
c.4604A= (p.Asp1535=)
c.7483A=
c.10538A= (p.Asp3513=)
c.692A= (p.Asp231=)
c.1894A=
c.1635A=
c.4029A= (n.4029A=)
c.10412A= (p.Asp3471=)
n.4341A=
c.10541A= (p.Asp3514=)
2g.73572415A>CCA347283476ALMS1c.10157A>C (p.Asp3386Ala)
c.3243A>C
c.7438A>C
c.4604A>C (p.Asp1535Ala)
c.7483A>C
c.10538A>C (p.Asp3513Ala)
c.692A>C (p.Asp231Ala)
c.1894A>C
c.1635A>C
c.4029A>C (n.4029A>C)
c.10412A>C (p.Asp3471Ala)
n.4341A>C
c.10541A>C (p.Asp3514Ala)
2g.73572415A>GCA347283479ALMS1c.10157A>G (p.Asp3386Gly)
c.3243A>G
c.7438A>G
c.4604A>G (p.Asp1535Gly)
c.7483A>G
c.10538A>G (p.Asp3513Gly)
c.692A>G (p.Asp231Gly)
c.1894A>G
c.1635A>G
c.4029A>G (n.4029A>G)
c.10412A>G (p.Asp3471Gly)
n.4341A>G
c.10541A>G (p.Asp3514Gly)
2g.73572415A>TCA1715018ALMS1c.10157A>T (p.Asp3386Val)
c.3243A>T
c.7438A>T
c.4604A>T (p.Asp1535Val)
c.7483A>T
c.10538A>T (p.Asp3513Val)
c.692A>T (p.Asp231Val)
c.1894A>T
c.1635A>T
c.4029A>T (n.4029A>T)
c.10412A>T (p.Asp3471Val)
n.4341A>T
c.10541A>T (p.Asp3514Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572416T>ACA347283485ALMS1c.10158T>A (p.Asp3386Glu)
c.3244T>A
c.7439T>A
c.4605T>A (p.Asp1535Glu)
c.7484T>A
c.10539T>A (p.Asp3513Glu)
c.693T>A (p.Asp231Glu)
c.1895T>A
c.1636T>A
c.4030T>A (n.4030T>A)
c.10413T>A (p.Asp3471Glu)
n.4342T>A
c.10542T>A (p.Asp3514Glu)
2g.73572416T>CCA427024661ALMS1c.10158T>C (p.Asp3386=)
c.3244T>C
c.7439T>C
c.4605T>C (p.Asp1535=)
c.7484T>C
c.10539T>C (p.Asp3513=)
c.693T>C (p.Asp231=)
c.1895T>C
c.1636T>C
c.4030T>C (n.4030T>C)
c.10413T>C (p.Asp3471=)
n.4342T>C
c.10542T>C (p.Asp3514=)
 ClinVar
2g.73572416T>GCA347283489ALMS1c.10158T>G (p.Asp3386Glu)
c.3244T>G
c.7439T>G
c.4605T>G (p.Asp1535Glu)
c.7484T>G
c.10539T>G (p.Asp3513Glu)
c.693T>G (p.Asp231Glu)
c.1895T>G
c.1636T>G
c.4030T>G (n.4030T>G)
c.10413T>G (p.Asp3471Glu)
n.4342T>G
c.10542T>G (p.Asp3514Glu)
2g.73572417T>ACA347283500ALMS1c.10159T>A (p.Phe3387Ile)
c.3245T>A
c.7440T>A
c.4606T>A (p.Phe1536Ile)
c.7485T>A
c.10540T>A (p.Phe3514Ile)
c.694T>A (p.Phe232Ile)
c.1896T>A
c.1637T>A
c.4031T>A (n.4031T>A)
c.10414T>A (p.Phe3472Ile)
n.4343T>A
c.10543T>A (p.Phe3515Ile)
2g.73572417T>CCA347283496ALMS1c.10159T>C (p.Phe3387Leu)
c.3245T>C
c.7440T>C
c.4606T>C (p.Phe1536Leu)
c.7485T>C
c.10540T>C (p.Phe3514Leu)
c.694T>C (p.Phe232Leu)
c.1896T>C
c.1637T>C
c.4031T>C (n.4031T>C)
c.10414T>C (p.Phe3472Leu)
n.4343T>C
c.10543T>C (p.Phe3515Leu)
2g.73572417T>GCA347283494ALMS1c.10159T>G (p.Phe3387Val)
c.3245T>G
c.7440T>G
c.4606T>G (p.Phe1536Val)
c.7485T>G
c.10540T>G (p.Phe3514Val)
c.694T>G (p.Phe232Val)
c.1896T>G
c.1637T>G
c.4031T>G (n.4031T>G)
c.10414T>G (p.Phe3472Val)
n.4343T>G
c.10543T>G (p.Phe3515Val)
2g.73572417_73572418insCATGGCAAATACA2522630544ALMS1c.10159_10160insCATGGCAAATA (p.Phe3387SerfsTer?)
c.3245_3246insCATGGCAAATA
c.7440_7441insCATGGCAAATA
c.4606_4607insCATGGCAAATA (p.Phe1536SerfsTer?)
c.7485_7486insCATGGCAAATA
c.10540_10541insCATGGCAAATA (p.Phe3514SerfsTer?)
c.694_695insCATGGCAAATA (p.Phe232SerfsTer?)
c.1896_1897insCATGGCAAATA
c.1637_1638insCATGGCAAATA
c.4031_4032insCATGGCAAATA (n.4031_4032insCATGGCAAATA)
c.10414_10415insCATGGCAAATA (p.Phe3472SerfsTer?)
n.4343_4344insCATGGCAAATA
c.10543_10544insCATGGCAAATA (p.Phe3515SerfsTer?)
2g.73572418T>ACA347283503ALMS1c.10160T>A (p.Phe3387Tyr)
c.3246T>A
c.7441T>A
c.4607T>A (p.Phe1536Tyr)
c.7486T>A
c.10541T>A (p.Phe3514Tyr)
c.695T>A (p.Phe232Tyr)
c.1897T>A
c.1638T>A
c.4032T>A (n.4032T>A)
c.10415T>A (p.Phe3472Tyr)
n.4344T>A
c.10544T>A (p.Phe3515Tyr)
2g.73572418T>CCA347283505ALMS1c.10160T>C (p.Phe3387Ser)
c.3246T>C
c.7441T>C
c.4607T>C (p.Phe1536Ser)
c.7486T>C
c.10541T>C (p.Phe3514Ser)
c.695T>C (p.Phe232Ser)
c.1897T>C
c.1638T>C
c.4032T>C (n.4032T>C)
c.10415T>C (p.Phe3472Ser)
n.4344T>C
c.10544T>C (p.Phe3515Ser)
2g.73572418T>GCA347283509ALMS1c.10160T>G (p.Phe3387Cys)
c.3246T>G
c.7441T>G
c.4607T>G (p.Phe1536Cys)
c.7486T>G
c.10541T>G (p.Phe3514Cys)
c.695T>G (p.Phe232Cys)
c.1897T>G
c.1638T>G
c.4032T>G (n.4032T>G)
c.10415T>G (p.Phe3472Cys)
n.4344T>G
c.10544T>G (p.Phe3515Cys)
2g.73572419C>ACA347283512ALMS1c.10161C>A (p.Phe3387Leu)
c.3247C>A
c.7442C>A
c.4608C>A (p.Phe1536Leu)
c.7487C>A
c.10542C>A (p.Phe3514Leu)
c.696C>A (p.Phe232Leu)
c.1898C>A
c.1639C>A
c.4033C>A (n.4033C>A)
c.10416C>A (p.Phe3472Leu)
n.4345C>A
c.10545C>A (p.Phe3515Leu)
2g.73572419C>GCA347283513ALMS1c.10161C>G (p.Phe3387Leu)
c.3247C>G
c.7442C>G
c.4608C>G (p.Phe1536Leu)
c.7487C>G
c.10542C>G (p.Phe3514Leu)
c.696C>G (p.Phe232Leu)
c.1898C>G
c.1639C>G
c.4033C>G (n.4033C>G)
c.10416C>G (p.Phe3472Leu)
n.4345C>G
c.10545C>G (p.Phe3515Leu)
 gnomAD v4
2g.73572419C>TCA427024671ALMS1c.10161C>T (p.Phe3387=)
c.3247C>T
c.7442C>T
c.4608C>T (p.Phe1536=)
c.7487C>T
c.10542C>T (p.Phe3514=)
c.696C>T (p.Phe232=)
c.1898C>T
c.1639C>T
c.4033C>T (n.4033C>T)
c.10416C>T (p.Phe3472=)
n.4345C>T
c.10545C>T (p.Phe3515=)
2g.73572420T>ACA347283514ALMS1c.10162T>A (p.Phe3388Ile)
c.3248T>A
c.7443T>A
c.4609T>A (p.Phe1537Ile)
c.7488T>A
c.10543T>A (p.Phe3515Ile)
c.697T>A (p.Phe233Ile)
c.1899T>A
c.1640T>A
c.4034T>A (n.4034T>A)
c.10417T>A (p.Phe3473Ile)
n.4346T>A
c.10546T>A (p.Phe3516Ile)
2g.73572420T>CCA347283515ALMS1c.10162T>C (p.Phe3388Leu)
c.3248T>C
c.7443T>C
c.4609T>C (p.Phe1537Leu)
c.7488T>C
c.10543T>C (p.Phe3515Leu)
c.697T>C (p.Phe233Leu)
c.1899T>C
c.1640T>C
c.4034T>C (n.4034T>C)
c.10417T>C (p.Phe3473Leu)
n.4346T>C
c.10546T>C (p.Phe3516Leu)
2g.73572420T>GCA347283517ALMS1c.10162T>G (p.Phe3388Val)
c.3248T>G
c.7443T>G
c.4609T>G (p.Phe1537Val)
c.7488T>G
c.10543T>G (p.Phe3515Val)
c.697T>G (p.Phe233Val)
c.1899T>G
c.1640T>G
c.4034T>G (n.4034T>G)
c.10417T>G (p.Phe3473Val)
n.4346T>G
c.10546T>G (p.Phe3516Val)
2g.73572421T>ACA347283520ALMS1c.10163T>A (p.Phe3388Tyr)
c.3249T>A
c.7444T>A
c.4610T>A (p.Phe1537Tyr)
c.7489T>A
c.10544T>A (p.Phe3515Tyr)
c.698T>A (p.Phe233Tyr)
c.1900T>A
c.1641T>A
c.4035T>A (n.4035T>A)
c.10418T>A (p.Phe3473Tyr)
n.4347T>A
c.10547T>A (p.Phe3516Tyr)
2g.73572421T>CCA347283523ALMS1c.10163T>C (p.Phe3388Ser)
c.3249T>C
c.7444T>C
c.4610T>C (p.Phe1537Ser)
c.7489T>C
c.10544T>C (p.Phe3515Ser)
c.698T>C (p.Phe233Ser)
c.1900T>C
c.1641T>C
c.4035T>C (n.4035T>C)
c.10418T>C (p.Phe3473Ser)
n.4347T>C
c.10547T>C (p.Phe3516Ser)
2g.73572421T>GCA347283526ALMS1c.10163T>G (p.Phe3388Cys)
c.3249T>G
c.7444T>G
c.4610T>G (p.Phe1537Cys)
c.7489T>G
c.10544T>G (p.Phe3515Cys)
c.698T>G (p.Phe233Cys)
c.1900T>G
c.1641T>G
c.4035T>G (n.4035T>G)
c.10418T>G (p.Phe3473Cys)
n.4347T>G
c.10547T>G (p.Phe3516Cys)
2g.73572421T=CA1261021119ALMS1c.10163T= (p.Phe3388=)
c.3249T=
c.7444T=
c.4610T= (p.Phe1537=)
c.7489T=
c.10544T= (p.Phe3515=)
c.698T= (p.Phe233=)
c.1900T=
c.1641T=
c.4035T= (n.4035T=)
c.10418T= (p.Phe3473=)
n.4347T=
c.10547T= (p.Phe3516=)
2g.73572421_73572422insCACA658822830ALMS1c.10163_10164insCA (p.Gln3389IlefsTer?)
c.3249_3250insCA
c.7444_7445insCA
c.4610_4611insCA (p.Gln1538IlefsTer?)
c.7489_7490insCA
c.10544_10545insCA (p.Gln3516IlefsTer?)
c.698_699insCA (p.Gln234IlefsTer?)
c.1900_1901insCA
c.1641_1642insCA
c.4035_4036insCA (n.4035_4036insCA)
c.10418_10419insCA (p.Gln3474IlefsTer?)
n.4347_4348insCA
c.10547_10548insCA (p.Gln3517IlefsTer?)
 ClinVar dbSNP
2g.73572422T>ACA1715019ALMS1c.10164T>A (p.Phe3388Leu)
c.3250T>A
c.7445T>A
c.4611T>A (p.Phe1537Leu)
c.7490T>A
c.10545T>A (p.Phe3515Leu)
c.699T>A (p.Phe233Leu)
c.1901T>A
c.1642T>A
c.4036T>A (n.4036T>A)
c.10419T>A (p.Phe3473Leu)
n.4348T>A
c.10548T>A (p.Phe3516Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572422T>CCA427024676ALMS1c.10164T>C (p.Phe3388=)
c.3250T>C
c.7445T>C
c.4611T>C (p.Phe1537=)
c.7490T>C
c.10545T>C (p.Phe3515=)
c.699T>C (p.Phe233=)
c.1901T>C
c.1642T>C
c.4036T>C (n.4036T>C)
c.10419T>C (p.Phe3473=)
n.4348T>C
c.10548T>C (p.Phe3516=)
2g.73572422T>GCA347283534ALMS1c.10164T>G (p.Phe3388Leu)
c.3250T>G
c.7445T>G
c.4611T>G (p.Phe1537Leu)
c.7490T>G
c.10545T>G (p.Phe3515Leu)
c.699T>G (p.Phe233Leu)
c.1901T>G
c.1642T>G
c.4036T>G (n.4036T>G)
c.10419T>G (p.Phe3473Leu)
n.4348T>G
c.10548T>G (p.Phe3516Leu)
 ClinVar gnomAD v4
2g.73572422T=CA1261021128ALMS1c.10164T= (p.Phe3388=)
c.3250T=
c.7445T=
c.4611T= (p.Phe1537=)
c.7490T=
c.10545T= (p.Phe3515=)
c.699T= (p.Phe233=)
c.1901T=
c.1642T=
c.4036T= (n.4036T=)
c.10419T= (p.Phe3473=)
n.4348T=
c.10548T= (p.Phe3516=)
2g.73572423C>ACA347283543ALMS1c.10165C>A (p.Gln3389Lys)
c.3251C>A
c.7446C>A
c.4612C>A (p.Gln1538Lys)
c.7491C>A
c.10546C>A (p.Gln3516Lys)
c.700C>A (p.Gln234Lys)
c.1902C>A
c.1643C>A
c.4037C>A (n.4037C>A)
c.10420C>A (p.Gln3474Lys)
n.4349C>A
c.10549C>A (p.Gln3517Lys)
2g.73572423C=CA1261021141ALMS1c.10165C= (p.Gln3389=)
c.3251C=
c.7446C=
c.4612C= (p.Gln1538=)
c.7491C=
c.10546C= (p.Gln3516=)
c.700C= (p.Gln234=)
c.1902C=
c.1643C=
c.4037C= (n.4037C=)
c.10420C= (p.Gln3474=)
n.4349C=
c.10549C= (p.Gln3517=)
2g.73572423C>GCA1715021ALMS1c.10165C>G (p.Gln3389Glu)
c.3251C>G
c.7446C>G
c.4612C>G (p.Gln1538Glu)
c.7491C>G
c.10546C>G (p.Gln3516Glu)
c.700C>G (p.Gln234Glu)
c.1902C>G
c.1643C>G
c.4037C>G (n.4037C>G)
c.10420C>G (p.Gln3474Glu)
n.4349C>G
c.10549C>G (p.Gln3517Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572423C>TCA1715020ALMS1c.10165C>T (p.Gln3389Ter)
c.3251C>T
c.7446C>T
c.4612C>T (p.Gln1538Ter)
c.7491C>T
c.10546C>T (p.Gln3516Ter)
c.700C>T (p.Gln234Ter)
c.1902C>T
c.1643C>T
c.4037C>T (n.4037C>T)
c.10420C>T (p.Gln3474Ter)
n.4349C>T
c.10549C>T (p.Gln3517Ter)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.73572424A=CA1261021152ALMS1c.10166A= (p.Gln3389=)
c.3252A=
c.7447A=
c.4613A= (p.Gln1538=)
c.7492A=
c.10547A= (p.Gln3516=)
c.701A= (p.Gln234=)
c.1903A=
c.1644A=
c.4038A= (n.4038A=)
c.10421A= (p.Gln3474=)
n.4350A=
c.10550A= (p.Gln3517=)
2g.73572424A>CCA347283556ALMS1c.10166A>C (p.Gln3389Pro)
c.3252A>C
c.7447A>C
c.4613A>C (p.Gln1538Pro)
c.7492A>C
c.10547A>C (p.Gln3516Pro)
c.701A>C (p.Gln234Pro)
c.1903A>C
c.1644A>C
c.4038A>C (n.4038A>C)
c.10421A>C (p.Gln3474Pro)
n.4350A>C
c.10550A>C (p.Gln3517Pro)
2g.73572424A>GCA347283549ALMS1c.10166A>G (p.Gln3389Arg)
c.3252A>G
c.7447A>G
c.4613A>G (p.Gln1538Arg)
c.7492A>G
c.10547A>G (p.Gln3516Arg)
c.701A>G (p.Gln234Arg)
c.1903A>G
c.1644A>G
c.4038A>G (n.4038A>G)
c.10421A>G (p.Gln3474Arg)
n.4350A>G
c.10550A>G (p.Gln3517Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.73572424A>TCA347283552ALMS1c.10166A>T (p.Gln3389Leu)
c.3252A>T
c.7447A>T
c.4613A>T (p.Gln1538Leu)
c.7492A>T
c.10547A>T (p.Gln3516Leu)
c.701A>T (p.Gln234Leu)
c.1903A>T
c.1644A>T
c.4038A>T (n.4038A>T)
c.10421A>T (p.Gln3474Leu)
n.4350A>T
c.10550A>T (p.Gln3517Leu)
2g.73572425G>ACA427024677ALMS1c.10167G>A (p.Gln3389=)
c.3253G>A
c.7448G>A
c.4614G>A (p.Gln1538=)
c.7493G>A
c.10548G>A (p.Gln3516=)
c.702G>A (p.Gln234=)
c.1904G>A
c.1645G>A
c.4039G>A (n.4039G>A)
c.10422G>A (p.Gln3474=)
n.4351G>A
c.10551G>A (p.Gln3517=)
2g.73572425G>CCA347283558ALMS1c.10167G>C (p.Gln3389His)
c.3253G>C
c.7448G>C
c.4614G>C (p.Gln1538His)
c.7493G>C
c.10548G>C (p.Gln3516His)
c.702G>C (p.Gln234His)
c.1904G>C
c.1645G>C
c.4039G>C (n.4039G>C)
c.10422G>C (p.Gln3474His)
n.4351G>C
c.10551G>C (p.Gln3517His)
2g.73572425G>TCA347283561ALMS1c.10167G>T (p.Gln3389His)
c.3253G>T
c.7448G>T
c.4614G>T (p.Gln1538His)
c.7493G>T
c.10548G>T (p.Gln3516His)
c.702G>T (p.Gln234His)
c.1904G>T
c.1645G>T
c.4039G>T (n.4039G>T)
c.10422G>T (p.Gln3474His)
n.4351G>T
c.10551G>T (p.Gln3517His)
2g.73572426C>ACA347283566ALMS1c.10168C>A (p.His3390Asn)
c.3254C>A
c.7449C>A
c.4615C>A (p.His1539Asn)
c.7494C>A
c.10549C>A (p.His3517Asn)
c.703C>A (p.His235Asn)
c.1905C>A
c.1646C>A
c.4040C>A (n.4040C>A)
c.10423C>A (p.His3475Asn)
n.4352C>A
c.10552C>A (p.His3518Asn)
2g.73572426C>GCA347283568ALMS1c.10168C>G (p.His3390Asp)
c.3254C>G
c.7449C>G
c.4615C>G (p.His1539Asp)
c.7494C>G
c.10549C>G (p.His3517Asp)
c.703C>G (p.His235Asp)
c.1905C>G
c.1646C>G
c.4040C>G (n.4040C>G)
c.10423C>G (p.His3475Asp)
n.4352C>G
c.10552C>G (p.His3518Asp)
2g.73572426C>TCA347283571ALMS1c.10168C>T (p.His3390Tyr)
c.3254C>T
c.7449C>T
c.4615C>T (p.His1539Tyr)
c.7494C>T
c.10549C>T (p.His3517Tyr)
c.703C>T (p.His235Tyr)
c.1905C>T
c.1646C>T
c.4040C>T (n.4040C>T)
c.10423C>T (p.His3475Tyr)
n.4352C>T
c.10552C>T (p.His3518Tyr)
2g.73572427A=CA1261021157ALMS1c.10169A= (p.His3390=)
c.3255A=
c.7450A=
c.4616A= (p.His1539=)
c.7495A=
c.10550A= (p.His3517=)
c.704A= (p.His235=)
c.1906A=
c.1647A=
c.4041A= (n.4041A=)
c.10424A= (p.His3475=)
n.4353A=
c.10553A= (p.His3518=)
2g.73572427A>CCA347283582ALMS1c.10169A>C (p.His3390Pro)
c.3255A>C
c.7450A>C
c.4616A>C (p.His1539Pro)
c.7495A>C
c.10550A>C (p.His3517Pro)
c.704A>C (p.His235Pro)
c.1906A>C
c.1647A>C
c.4041A>C (n.4041A>C)
c.10424A>C (p.His3475Pro)
n.4353A>C
c.10553A>C (p.His3518Pro)
2g.73572427A>GCA1715022ALMS1c.10169A>G (p.His3390Arg)
c.3255A>G
c.7450A>G
c.4616A>G (p.His1539Arg)
c.7495A>G
c.10550A>G (p.His3517Arg)
c.704A>G (p.His235Arg)
c.1906A>G
c.1647A>G
c.4041A>G (n.4041A>G)
c.10424A>G (p.His3475Arg)
n.4353A>G
c.10553A>G (p.His3518Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572427A>TCA347283577ALMS1c.10169A>T (p.His3390Leu)
c.3255A>T
c.7450A>T
c.4616A>T (p.His1539Leu)
c.7495A>T
c.10550A>T (p.His3517Leu)
c.704A>T (p.His235Leu)
c.1906A>T
c.1647A>T
c.4041A>T (n.4041A>T)
c.10424A>T (p.His3475Leu)
n.4353A>T
c.10553A>T (p.His3518Leu)
2g.73572428T>ACA347283586ALMS1c.10170T>A (p.His3390Gln)
c.3256T>A
c.7451T>A
c.4617T>A (p.His1539Gln)
c.7496T>A
c.10551T>A (p.His3517Gln)
c.705T>A (p.His235Gln)
c.1907T>A
c.1648T>A
c.4042T>A (n.4042T>A)
c.10425T>A (p.His3475Gln)
n.4354T>A
c.10554T>A (p.His3518Gln)
2g.73572428T>CCA427024679ALMS1c.10170T>C (p.His3390=)
c.3256T>C
c.7451T>C
c.4617T>C (p.His1539=)
c.7496T>C
c.10551T>C (p.His3517=)
c.705T>C (p.His235=)
c.1907T>C
c.1648T>C
c.4042T>C (n.4042T>C)
c.10425T>C (p.His3475=)
n.4354T>C
c.10554T>C (p.His3518=)
2g.73572428T>GCA1715023ALMS1c.10170T>G (p.His3390Gln)
c.3256T>G
c.7451T>G
c.4617T>G (p.His1539Gln)
c.7496T>G
c.10551T>G (p.His3517Gln)
c.705T>G (p.His235Gln)
c.1907T>G
c.1648T>G
c.4042T>G (n.4042T>G)
c.10425T>G (p.His3475Gln)
n.4354T>G
c.10554T>G (p.His3518Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572428T=CA1261021159ALMS1c.10170T= (p.His3390=)
c.3256T=
c.7451T=
c.4617T= (p.His1539=)
c.7496T=
c.10551T= (p.His3517=)
c.705T= (p.His235=)
c.1907T=
c.1648T=
c.4042T= (n.4042T=)
c.10425T= (p.His3475=)
n.4354T=
c.10554T= (p.His3518=)
2g.73572429C>ACA347283596ALMS1c.10171C>A (p.His3391Asn)
c.3257C>A
c.7452C>A
c.4618C>A (p.His1540Asn)
c.7497C>A
c.10552C>A (p.His3518Asn)
c.706C>A (p.His236Asn)
c.1908C>A
c.1649C>A
c.4043C>A (n.4043C>A)
c.10426C>A (p.His3476Asn)
n.4355C>A
c.10555C>A (p.His3519Asn)
2g.73572429C>GCA347283599ALMS1c.10171C>G (p.His3391Asp)
c.3257C>G
c.7452C>G
c.4618C>G (p.His1540Asp)
c.7497C>G
c.10552C>G (p.His3518Asp)
c.706C>G (p.His236Asp)
c.1908C>G
c.1649C>G
c.4043C>G (n.4043C>G)
c.10426C>G (p.His3476Asp)
n.4355C>G
c.10555C>G (p.His3519Asp)
2g.73572429C>TCA347283603ALMS1c.10171C>T (p.His3391Tyr)
c.3257C>T
c.7452C>T
c.4618C>T (p.His1540Tyr)
c.7497C>T
c.10552C>T (p.His3518Tyr)
c.706C>T (p.His236Tyr)
c.1908C>T
c.1649C>T
c.4043C>T (n.4043C>T)
c.10426C>T (p.His3476Tyr)
n.4355C>T
c.10555C>T (p.His3519Tyr)
 ClinVar dbSNP
2g.73572430A=CA1261021165ALMS1c.10172A= (p.His3391=)
c.3258A=
c.7453A=
c.4619A= (p.His1540=)
c.7498A=
c.10553A= (p.His3518=)
c.707A= (p.His236=)
c.1909A=
c.1650A=
c.4044A= (n.4044A=)
c.10427A= (p.His3476=)
n.4356A=
c.10556A= (p.His3519=)
2g.73572430A>CCA347283610ALMS1c.10172A>C (p.His3391Pro)
c.3258A>C
c.7453A>C
c.4619A>C (p.His1540Pro)
c.7498A>C
c.10553A>C (p.His3518Pro)
c.707A>C (p.His236Pro)
c.1909A>C
c.1650A>C
c.4044A>C (n.4044A>C)
c.10427A>C (p.His3476Pro)
n.4356A>C
c.10556A>C (p.His3519Pro)
2g.73572430A>GCA347283616ALMS1c.10172A>G (p.His3391Arg)
c.3258A>G
c.7453A>G
c.4619A>G (p.His1540Arg)
c.7498A>G
c.10553A>G (p.His3518Arg)
c.707A>G (p.His236Arg)
c.1909A>G
c.1650A>G
c.4044A>G (n.4044A>G)
c.10427A>G (p.His3476Arg)
n.4356A>G
c.10556A>G (p.His3519Arg)
2g.73572430A>TCA347283613ALMS1c.10172A>T (p.His3391Leu)
c.3258A>T
c.7453A>T
c.4619A>T (p.His1540Leu)
c.7498A>T
c.10553A>T (p.His3518Leu)
c.707A>T (p.His236Leu)
c.1909A>T
c.1650A>T
c.4044A>T (n.4044A>T)
c.10427A>T (p.His3476Leu)
n.4356A>T
c.10556A>T (p.His3519Leu)
2g.73572431T>ACA347283622ALMS1c.10173T>A (p.His3391Gln)
c.3259T>A
c.7454T>A
c.4620T>A (p.His1540Gln)
c.7499T>A
c.10554T>A (p.His3518Gln)
c.708T>A (p.His236Gln)
c.1910T>A
c.1651T>A
c.4045T>A (n.4045T>A)
c.10428T>A (p.His3476Gln)
n.4357T>A
c.10557T>A (p.His3519Gln)
2g.73572431T>CCA50386240ALMS1c.10173T>C (p.His3391=)
c.3259T>C
c.7454T>C
c.4620T>C (p.His1540=)
c.7499T>C
c.10554T>C (p.His3518=)
c.708T>C (p.His236=)
c.1910T>C
c.1651T>C
c.4045T>C (n.4045T>C)
c.10428T>C (p.His3476=)
n.4357T>C
c.10557T>C (p.His3519=)
 ClinVar dbSNP
2g.73572431T>GCA347283624ALMS1c.10173T>G (p.His3391Gln)
c.3259T>G
c.7454T>G
c.4620T>G (p.His1540Gln)
c.7499T>G
c.10554T>G (p.His3518Gln)
c.708T>G (p.His236Gln)
c.1910T>G
c.1651T>G
c.4045T>G (n.4045T>G)
c.10428T>G (p.His3476Gln)
n.4357T>G
c.10557T>G (p.His3519Gln)
2g.73572431T=CA1261021171ALMS1c.10173T= (p.His3391=)
c.3259T=
c.7454T=
c.4620T= (p.His1540=)
c.7499T=
c.10554T= (p.His3518=)
c.708T= (p.His236=)
c.1910T=
c.1651T=
c.4045T= (n.4045T=)
c.10428T= (p.His3476=)
n.4357T=
c.10557T= (p.His3519=)
2g.73572431dupCA1715024ALMS1c.10173dup (p.Pro3392SerfsTer5)
c.3259dup
c.7454dup
c.4620dup (p.Pro1541SerfsTer5)
c.7499dup
c.10554dup (p.Pro3519SerfsTer5)
c.708dup (p.Pro237SerfsTer5)
c.1910dup
c.1651dup
c.4045dup (n.4045dup)
c.10428dup (p.Pro3477SerfsTer5)
n.4357dup
c.10557dup (p.Pro3520SerfsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572432C>ACA347283628ALMS1c.10174C>A (p.Pro3392Thr)
c.3260C>A
c.7455C>A
c.4621C>A (p.Pro1541Thr)
c.7500C>A
c.10555C>A (p.Pro3519Thr)
c.709C>A (p.Pro237Thr)
c.1911C>A
c.1652C>A
c.4046C>A (n.4046C>A)
c.10429C>A (p.Pro3477Thr)
n.4358C>A
c.10558C>A (p.Pro3520Thr)
2g.73572432C>GCA347283632ALMS1c.10174C>G (p.Pro3392Ala)
c.3260C>G
c.7455C>G
c.4621C>G (p.Pro1541Ala)
c.7500C>G
c.10555C>G (p.Pro3519Ala)
c.709C>G (p.Pro237Ala)
c.1911C>G
c.1652C>G
c.4046C>G (n.4046C>G)
c.10429C>G (p.Pro3477Ala)
n.4358C>G
c.10558C>G (p.Pro3520Ala)
 gnomAD v4
2g.73572432C>TCA347283636ALMS1c.10174C>T (p.Pro3392Ser)
c.3260C>T
c.7455C>T
c.4621C>T (p.Pro1541Ser)
c.7500C>T
c.10555C>T (p.Pro3519Ser)
c.709C>T (p.Pro237Ser)
c.1911C>T
c.1652C>T
c.4046C>T (n.4046C>T)
c.10429C>T (p.Pro3477Ser)
n.4358C>T
c.10558C>T (p.Pro3520Ser)
2g.73572433C>ACA50386241ALMS1c.10175C>A (p.Pro3392Gln)
c.3261C>A
c.7456C>A
c.4622C>A (p.Pro1541Gln)
c.7501C>A
c.10556C>A (p.Pro3519Gln)
c.710C>A (p.Pro237Gln)
c.1912C>A
c.1653C>A
c.4047C>A (n.4047C>A)
c.10430C>A (p.Pro3477Gln)
n.4359C>A
c.10559C>A (p.Pro3520Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.73572433C=CA1261021176ALMS1c.10175C= (p.Pro3392=)
c.3261C=
c.7456C=
c.4622C= (p.Pro1541=)
c.7501C=
c.10556C= (p.Pro3519=)
c.710C= (p.Pro237=)
c.1912C=
c.1653C=
c.4047C= (n.4047C=)
c.10430C= (p.Pro3477=)
n.4359C=
c.10559C= (p.Pro3520=)
2g.73572433C>GCA347283644ALMS1c.10175C>G (p.Pro3392Arg)
c.3261C>G
c.7456C>G
c.4622C>G (p.Pro1541Arg)
c.7501C>G
c.10556C>G (p.Pro3519Arg)
c.710C>G (p.Pro237Arg)
c.1912C>G
c.1653C>G
c.4047C>G (n.4047C>G)
c.10430C>G (p.Pro3477Arg)
n.4359C>G
c.10559C>G (p.Pro3520Arg)
2g.73572433C>TCA347283647ALMS1c.10175C>T (p.Pro3392Leu)
c.3261C>T
c.7456C>T
c.4622C>T (p.Pro1541Leu)
c.7501C>T
c.10556C>T (p.Pro3519Leu)
c.710C>T (p.Pro237Leu)
c.1912C>T
c.1653C>T
c.4047C>T (n.4047C>T)
c.10430C>T (p.Pro3477Leu)
n.4359C>T
c.10559C>T (p.Pro3520Leu)
2g.73572435_73572438delCA2499216267ALMS1c.10177_10180del (p.Asp3393AsnfsTer25)
c.3263_3266del
c.7458_7461del
c.4624_4627del (p.Asp1542AsnfsTer25)
c.7503_7506del
c.10558_10561del (p.Asp3520AsnfsTer25)
c.712_715del (p.Asp238AsnfsTer25)
c.1914_1917del
c.1655_1658del
c.4049_4052del (n.4049_4052del)
c.10432_10435del (p.Asp3478AsnfsTer25)
n.4361_4364del
c.10561_10564del (p.Asp3521AsnfsTer25)
 ClinVar dbSNP
2g.73572434A>CCA427024686ALMS1c.10176A>C (p.Pro3392=)
c.3262A>C
c.7457A>C
c.4623A>C (p.Pro1541=)
c.7502A>C
c.10557A>C (p.Pro3519=)
c.711A>C (p.Pro237=)
c.1913A>C
c.1654A>C
c.4048A>C (n.4048A>C)
c.10431A>C (p.Pro3477=)
n.4360A>C
c.10560A>C (p.Pro3520=)
2g.73572434A>GCA427024687ALMS1c.10176A>G (p.Pro3392=)
c.3262A>G
c.7457A>G
c.4623A>G (p.Pro1541=)
c.7502A>G
c.10557A>G (p.Pro3519=)
c.711A>G (p.Pro237=)
c.1913A>G
c.1654A>G
c.4048A>G (n.4048A>G)
c.10431A>G (p.Pro3477=)
n.4360A>G
c.10560A>G (p.Pro3520=)
 ClinVar
2g.73572434A>TCA427024688ALMS1c.10176A>T (p.Pro3392=)
c.3262A>T
c.7457A>T
c.4623A>T (p.Pro1541=)
c.7502A>T
c.10557A>T (p.Pro3519=)
c.711A>T (p.Pro237=)
c.1913A>T
c.1654A>T
c.4048A>T (n.4048A>T)
c.10431A>T (p.Pro3477=)
n.4360A>T
c.10560A>T (p.Pro3520=)
2g.73572435G>ACA347283650ALMS1c.10177G>A (p.Asp3393Asn)
c.3263G>A
c.7458G>A
c.4624G>A (p.Asp1542Asn)
c.7503G>A
c.10558G>A (p.Asp3520Asn)
c.712G>A (p.Asp238Asn)
c.1914G>A
c.1655G>A
c.4049G>A (n.4049G>A)
c.10432G>A (p.Asp3478Asn)
n.4361G>A
c.10561G>A (p.Asp3521Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.73572435G>CCA347283653ALMS1c.10177G>C (p.Asp3393His)
c.3263G>C
c.7458G>C
c.4624G>C (p.Asp1542His)
c.7503G>C
c.10558G>C (p.Asp3520His)
c.712G>C (p.Asp238His)
c.1914G>C
c.1655G>C
c.4049G>C (n.4049G>C)
c.10432G>C (p.Asp3478His)
n.4361G>C
c.10561G>C (p.Asp3521His)
 ClinVar dbSNP
2g.73572435G=CA1261021178ALMS1c.10177G= (p.Asp3393=)
c.3263G=
c.7458G=
c.4624G= (p.Asp1542=)
c.7503G=
c.10558G= (p.Asp3520=)
c.712G= (p.Asp238=)
c.1914G=
c.1655G=
c.4049G= (n.4049G=)
c.10432G= (p.Asp3478=)
n.4361G=
c.10561G= (p.Asp3521=)
2g.73572435G>TCA347283658ALMS1c.10177G>T (p.Asp3393Tyr)
c.3263G>T
c.7458G>T
c.4624G>T (p.Asp1542Tyr)
c.7503G>T
c.10558G>T (p.Asp3520Tyr)
c.712G>T (p.Asp238Tyr)
c.1914G>T
c.1655G>T
c.4049G>T (n.4049G>T)
c.10432G>T (p.Asp3478Tyr)
n.4361G>T
c.10561G>T (p.Asp3521Tyr)
2g.73572436A>CCA347283669ALMS1c.10178A>C (p.Asp3393Ala)
c.3264A>C
c.7459A>C
c.4625A>C (p.Asp1542Ala)
c.7504A>C
c.10559A>C (p.Asp3520Ala)
c.713A>C (p.Asp238Ala)
c.1915A>C
c.1656A>C
c.4050A>C (n.4050A>C)
c.10433A>C (p.Asp3478Ala)
n.4362A>C
c.10562A>C (p.Asp3521Ala)
2g.73572436A>GCA347283663ALMS1c.10178A>G (p.Asp3393Gly)
c.3264A>G
c.7459A>G
c.4625A>G (p.Asp1542Gly)
c.7504A>G
c.10559A>G (p.Asp3520Gly)
c.713A>G (p.Asp238Gly)
c.1915A>G
c.1656A>G
c.4050A>G (n.4050A>G)
c.10433A>G (p.Asp3478Gly)
n.4362A>G
c.10562A>G (p.Asp3521Gly)
 dbSNP gnomAD v4
2g.73572436A>TCA347283666ALMS1c.10178A>T (p.Asp3393Val)
c.3264A>T
c.7459A>T
c.4625A>T (p.Asp1542Val)
c.7504A>T
c.10559A>T (p.Asp3520Val)
c.713A>T (p.Asp238Val)
c.1915A>T
c.1656A>T
c.4050A>T (n.4050A>T)
c.10433A>T (p.Asp3478Val)
n.4362A>T
c.10562A>T (p.Asp3521Val)
2g.73572437C>ACA347283672ALMS1c.10179C>A (p.Asp3393Glu)
c.3265C>A
c.7460C>A
c.4626C>A (p.Asp1542Glu)
c.7505C>A
c.10560C>A (p.Asp3520Glu)
c.714C>A (p.Asp238Glu)
c.1916C>A
c.1657C>A
c.4051C>A (n.4051C>A)
c.10434C>A (p.Asp3478Glu)
n.4363C>A
c.10563C>A (p.Asp3521Glu)
 dbSNP
2g.73572437C>GCA347283675ALMS1c.10179C>G (p.Asp3393Glu)
c.3265C>G
c.7460C>G
c.4626C>G (p.Asp1542Glu)
c.7505C>G
c.10560C>G (p.Asp3520Glu)
c.714C>G (p.Asp238Glu)
c.1916C>G
c.1657C>G
c.4051C>G (n.4051C>G)
c.10434C>G (p.Asp3478Glu)
n.4363C>G
c.10563C>G (p.Asp3521Glu)
2g.73572437C>TCA427024692ALMS1c.10179C>T (p.Asp3393=)
c.3265C>T
c.7460C>T
c.4626C>T (p.Asp1542=)
c.7505C>T
c.10560C>T (p.Asp3520=)
c.714C>T (p.Asp238=)
c.1916C>T
c.1657C>T
c.4051C>T (n.4051C>T)
c.10434C>T (p.Asp3478=)
n.4363C>T
c.10563C>T (p.Asp3521=)
2g.73572438A>CCA347283679ALMS1c.10180A>C (p.Lys3394Gln)
c.3266A>C
c.7461A>C
c.4627A>C (p.Lys1543Gln)
c.7506A>C
c.10561A>C (p.Lys3521Gln)
c.715A>C (p.Lys239Gln)
c.1917A>C
c.1658A>C
c.4052A>C (n.4052A>C)
c.10435A>C (p.Lys3479Gln)
n.4364A>C
c.10564A>C (p.Lys3522Gln)
2g.73572438A>GCA347283686ALMS1c.10180A>G (p.Lys3394Glu)
c.3266A>G
c.7461A>G
c.4627A>G (p.Lys1543Glu)
c.7506A>G
c.10561A>G (p.Lys3521Glu)
c.715A>G (p.Lys239Glu)
c.1917A>G
c.1658A>G
c.4052A>G (n.4052A>G)
c.10435A>G (p.Lys3479Glu)
n.4364A>G
c.10564A>G (p.Lys3522Glu)
2g.73572438A>TCA347283687ALMS1c.10180A>T (p.Lys3394Ter)
c.3266A>T
c.7461A>T
c.4627A>T (p.Lys1543Ter)
c.7506A>T
c.10561A>T (p.Lys3521Ter)
c.715A>T (p.Lys239Ter)
c.1917A>T
c.1658A>T
c.4052A>T (n.4052A>T)
c.10435A>T (p.Lys3479Ter)
n.4364A>T
c.10564A>T (p.Lys3522Ter)
2g.73572439A=CA1261021183ALMS1c.10181A= (p.Lys3394=)
c.3267A=
c.7462A=
c.4628A= (p.Lys1543=)
c.7507A=
c.10562A= (p.Lys3521=)
c.716A= (p.Lys239=)
c.1918A=
c.1659A=
c.4053A= (n.4053A=)
c.10436A= (p.Lys3479=)
n.4365A=
c.10565A= (p.Lys3522=)
2g.73572439A>CCA347283690ALMS1c.10181A>C (p.Lys3394Thr)
c.3267A>C
c.7462A>C
c.4628A>C (p.Lys1543Thr)
c.7507A>C
c.10562A>C (p.Lys3521Thr)
c.716A>C (p.Lys239Thr)
c.1918A>C
c.1659A>C
c.4053A>C (n.4053A>C)
c.10436A>C (p.Lys3479Thr)
n.4365A>C
c.10565A>C (p.Lys3522Thr)
2g.73572439A>GCA347283693ALMS1c.10181A>G (p.Lys3394Arg)
c.3267A>G
c.7462A>G
c.4628A>G (p.Lys1543Arg)
c.7507A>G
c.10562A>G (p.Lys3521Arg)
c.716A>G (p.Lys239Arg)
c.1918A>G
c.1659A>G
c.4053A>G (n.4053A>G)
c.10436A>G (p.Lys3479Arg)
n.4365A>G
c.10565A>G (p.Lys3522Arg)
 ClinVar dbSNP gnomAD v4
2g.73572439A>TCA347283696ALMS1c.10181A>T (p.Lys3394Ile)
c.3267A>T
c.7462A>T
c.4628A>T (p.Lys1543Ile)
c.7507A>T
c.10562A>T (p.Lys3521Ile)
c.716A>T (p.Lys239Ile)
c.1918A>T
c.1659A>T
c.4053A>T (n.4053A>T)
c.10436A>T (p.Lys3479Ile)
n.4365A>T
c.10565A>T (p.Lys3522Ile)
2g.73572440A>CCA347283702ALMS1c.10182A>C (p.Lys3394Asn)
c.3268A>C
c.7463A>C
c.4629A>C (p.Lys1543Asn)
c.7508A>C
c.10563A>C (p.Lys3521Asn)
c.717A>C (p.Lys239Asn)
c.1919A>C
c.1660A>C
c.4054A>C (n.4054A>C)
c.10437A>C (p.Lys3479Asn)
n.4366A>C
c.10566A>C (p.Lys3522Asn)
2g.73572440A>GCA427024697ALMS1c.10182A>G (p.Lys3394=)
c.3268A>G
c.7463A>G
c.4629A>G (p.Lys1543=)
c.7508A>G
c.10563A>G (p.Lys3521=)
c.717A>G (p.Lys239=)
c.1919A>G
c.1660A>G
c.4054A>G (n.4054A>G)
c.10437A>G (p.Lys3479=)
n.4366A>G
c.10566A>G (p.Lys3522=)
2g.73572440A>TCA347283705ALMS1c.10182A>T (p.Lys3394Asn)
c.3268A>T
c.7463A>T
c.4629A>T (p.Lys1543Asn)
c.7508A>T
c.10563A>T (p.Lys3521Asn)
c.717A>T (p.Lys239Asn)
c.1919A>T
c.1660A>T
c.4054A>T (n.4054A>T)
c.10437A>T (p.Lys3479Asn)
n.4366A>T
c.10566A>T (p.Lys3522Asn)
2g.73572448_73572449insCACATAGAGACA915944042ALMS1c.10190_10191insCACATAGAGA (p.Glu3397AspfsTer3)
c.3276_3277insCACATAGAGA
c.7471_7472insCACATAGAGA
c.4637_4638insCACATAGAGA (p.Glu1546AspfsTer3)
c.7516_7517insCACATAGAGA
c.10571_10572insCACATAGAGA (p.Glu3524AspfsTer3)
c.725_726insCACATAGAGA (p.Glu242AspfsTer3)
c.1927_1928insCACATAGAGA
c.1668_1669insCACATAGAGA
c.4062_4063insCACATAGAGA (n.4062_4063insCACATAGAGA)
c.10445_10446insCACATAGAGA (p.Glu3482AspfsTer3)
n.4374_4375insCACATAGAGA
c.10574_10575insCACATAGAGA (p.Glu3525AspfsTer3)
 ClinVar dbSNP
2g.73572441C>ACA347283709ALMS1c.10183C>A (p.His3395Asn)
c.3269C>A
c.7464C>A
c.4630C>A (p.His1544Asn)
c.7509C>A
c.10564C>A (p.His3522Asn)
c.718C>A (p.His240Asn)
c.1920C>A
c.1661C>A
c.4055C>A (n.4055C>A)
c.10438C>A (p.His3480Asn)
n.4367C>A
c.10567C>A (p.His3523Asn)
2g.73572441C>GCA347283720ALMS1c.10183C>G (p.His3395Asp)
c.3269C>G
c.7464C>G
c.4630C>G (p.His1544Asp)
c.7509C>G
c.10564C>G (p.His3522Asp)
c.718C>G (p.His240Asp)
c.1920C>G
c.1661C>G
c.4055C>G (n.4055C>G)
c.10438C>G (p.His3480Asp)
n.4367C>G
c.10567C>G (p.His3523Asp)
2g.73572441C>TCA347283723ALMS1c.10183C>T (p.His3395Tyr)
c.3269C>T
c.7464C>T
c.4630C>T (p.His1544Tyr)
c.7509C>T
c.10564C>T (p.His3522Tyr)
c.718C>T (p.His240Tyr)
c.1920C>T
c.1661C>T
c.4055C>T (n.4055C>T)
c.10438C>T (p.His3480Tyr)
n.4367C>T
c.10567C>T (p.His3523Tyr)
2g.73572441_73572443delinsCATCA1261021192ALMS1c.10183_10185delinsCAT (p.His3395=)
c.3269_3271delinsCAT
c.7464_7466delinsCAT
c.4630_4632delinsCAT (p.His1544=)
c.7509_7511delinsCAT
c.10564_10566delinsCAT (p.His3522=)
c.718_720delinsCAT (p.His240=)
c.1920_1922delinsCAT
c.1661_1663delinsCAT
c.4055_4057delinsCAT (n.4055_4057delinsCAT)
c.10438_10440delinsCAT (p.His3480=)
n.4367_4369delinsCAT
c.10567_10569delinsCAT (p.His3523=)
2g.73572442A>CCA347283727ALMS1c.10184A>C (p.His3395Pro)
c.3270A>C
c.7465A>C
c.4631A>C (p.His1544Pro)
c.7510A>C
c.10565A>C (p.His3522Pro)
c.719A>C (p.His240Pro)
c.1921A>C
c.1662A>C
c.4056A>C (n.4056A>C)
c.10439A>C (p.His3480Pro)
n.4368A>C
c.10568A>C (p.His3523Pro)
2g.73572442A>GCA347283726ALMS1c.10184A>G (p.His3395Arg)
c.3270A>G
c.7465A>G
c.4631A>G (p.His1544Arg)
c.7510A>G
c.10565A>G (p.His3522Arg)
c.719A>G (p.His240Arg)
c.1921A>G
c.1662A>G
c.4056A>G (n.4056A>G)
c.10439A>G (p.His3480Arg)
n.4368A>G
c.10568A>G (p.His3523Arg)
 ClinVar gnomAD v4
2g.73572442A>TCA347283725ALMS1c.10184A>T (p.His3395Leu)
c.3270A>T
c.7465A>T
c.4631A>T (p.His1544Leu)
c.7510A>T
c.10565A>T (p.His3522Leu)
c.719A>T (p.His240Leu)
c.1921A>T
c.1662A>T
c.4056A>T (n.4056A>T)
c.10439A>T (p.His3480Leu)
n.4368A>T
c.10568A>T (p.His3523Leu)
2g.73572443_73572444delCA534124643ALMS1c.10185_10186del (p.His3395GlnfsTer17)
c.3271_3272del
c.7466_7467del
c.4632_4633del (p.His1544GlnfsTer17)
c.7511_7512del
c.10566_10567del (p.His3522GlnfsTer17)
c.720_721del (p.His240GlnfsTer17)
c.1922_1923del
c.1663_1664del
c.4057_4058del (n.4057_4058del)
c.10440_10441del (p.His3480GlnfsTer17)
n.4369_4370del
c.10569_10570del (p.His3523GlnfsTer17)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572443T>ACA347283729ALMS1c.10185T>A (p.His3395Gln)
c.3271T>A
c.7466T>A
c.4632T>A (p.His1544Gln)
c.7511T>A
c.10566T>A (p.His3522Gln)
c.720T>A (p.His240Gln)
c.1922T>A
c.1663T>A
c.4057T>A (n.4057T>A)
c.10440T>A (p.His3480Gln)
n.4369T>A
c.10569T>A (p.His3523Gln)
2g.73572443T>CCA1715026ALMS1c.10185T>C (p.His3395=)
c.3271T>C
c.7466T>C
c.4632T>C (p.His1544=)
c.7511T>C
c.10566T>C (p.His3522=)
c.720T>C (p.His240=)
c.1922T>C
c.1663T>C
c.4057T>C (n.4057T>C)
c.10440T>C (p.His3480=)
n.4369T>C
c.10569T>C (p.His3523=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572443T>GCA1715025ALMS1c.10185T>G (p.His3395Gln)
c.3271T>G
c.7466T>G
c.4632T>G (p.His1544Gln)
c.7511T>G
c.10566T>G (p.His3522Gln)
c.720T>G (p.His240Gln)
c.1922T>G
c.1663T>G
c.4057T>G (n.4057T>G)
c.10440T>G (p.His3480Gln)
n.4369T>G
c.10569T>G (p.His3523Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572443T=CA1261021197ALMS1c.10185T= (p.His3395=)
c.3271T=
c.7466T=
c.4632T= (p.His1544=)
c.7511T=
c.10566T= (p.His3522=)
c.720T= (p.His240=)
c.1922T=
c.1663T=
c.4057T= (n.4057T=)
c.10440T= (p.His3480=)
n.4369T=
c.10569T= (p.His3523=)
2g.73572444A>CCA427024704ALMS1c.10186A>C (p.Arg3396=)
c.3272A>C
c.7467A>C
c.4633A>C (p.Arg1545=)
c.7512A>C
c.10567A>C (p.Arg3523=)
c.721A>C (p.Arg241=)
c.1923A>C
c.1664A>C
c.4058A>C (n.4058A>C)
c.10441A>C (p.Arg3481=)
n.4370A>C
c.10570A>C (p.Arg3524=)
2g.73572444A>GCA347283743ALMS1c.10186A>G (p.Arg3396Gly)
c.3272A>G
c.7467A>G
c.4633A>G (p.Arg1545Gly)
c.7512A>G
c.10567A>G (p.Arg3523Gly)
c.721A>G (p.Arg241Gly)
c.1923A>G
c.1664A>G
c.4058A>G (n.4058A>G)
c.10441A>G (p.Arg3481Gly)
n.4370A>G
c.10570A>G (p.Arg3524Gly)
 gnomAD v4
2g.73572444A>TCA347283749ALMS1c.10186A>T (p.Arg3396Ter)
c.3272A>T
c.7467A>T
c.4633A>T (p.Arg1545Ter)
c.7512A>T
c.10567A>T (p.Arg3523Ter)
c.721A>T (p.Arg241Ter)
c.1923A>T
c.1664A>T
c.4058A>T (n.4058A>T)
c.10441A>T (p.Arg3481Ter)
n.4370A>T
c.10570A>T (p.Arg3524Ter)
2g.73572447_73572448delCA2580611329ALMS1c.10189_10190del (p.Glu3397ThrfsTer15)
c.3275_3276del
c.7470_7471del
c.4636_4637del (p.Glu1546ThrfsTer15)
c.7515_7516del
c.10570_10571del (p.Glu3524ThrfsTer15)
c.724_725del (p.Glu242ThrfsTer15)
c.1926_1927del
c.1667_1668del
c.4061_4062del (n.4061_4062del)
c.10444_10445del (p.Glu3482ThrfsTer15)
n.4373_4374del
c.10573_10574del (p.Glu3525ThrfsTer15)
 ClinVar dbSNP
2g.73572445G>ACA347283752ALMS1c.10187G>A (p.Arg3396Lys)
c.3273G>A
c.7468G>A
c.4634G>A (p.Arg1545Lys)
c.7513G>A
c.10568G>A (p.Arg3523Lys)
c.722G>A (p.Arg241Lys)
c.1924G>A
c.1665G>A
c.4059G>A (n.4059G>A)
c.10442G>A (p.Arg3481Lys)
n.4371G>A
c.10571G>A (p.Arg3524Lys)
2g.73572445G>CCA347283754ALMS1c.10187G>C (p.Arg3396Thr)
c.3273G>C
c.7468G>C
c.4634G>C (p.Arg1545Thr)
c.7513G>C
c.10568G>C (p.Arg3523Thr)
c.722G>C (p.Arg241Thr)
c.1924G>C
c.1665G>C
c.4059G>C (n.4059G>C)
c.10442G>C (p.Arg3481Thr)
n.4371G>C
c.10571G>C (p.Arg3524Thr)
2g.73572445G>TCA347283757ALMS1c.10187G>T (p.Arg3396Ile)
c.3273G>T
c.7468G>T
c.4634G>T (p.Arg1545Ile)
c.7513G>T
c.10568G>T (p.Arg3523Ile)
c.722G>T (p.Arg241Ile)
c.1924G>T
c.1665G>T
c.4059G>T (n.4059G>T)
c.10442G>T (p.Arg3481Ile)
n.4371G>T
c.10571G>T (p.Arg3524Ile)
 gnomAD v4
2g.73572446A>CCA347283761ALMS1c.10188A>C (p.Arg3396Ser)
c.3274A>C
c.7469A>C
c.4635A>C (p.Arg1545Ser)
c.7514A>C
c.10569A>C (p.Arg3523Ser)
c.723A>C (p.Arg241Ser)
c.1925A>C
c.1666A>C
c.4060A>C (n.4060A>C)
c.10443A>C (p.Arg3481Ser)
n.4372A>C
c.10572A>C (p.Arg3524Ser)
2g.73572446A>GCA427024706ALMS1c.10188A>G (p.Arg3396=)
c.3274A>G
c.7469A>G
c.4635A>G (p.Arg1545=)
c.7514A>G
c.10569A>G (p.Arg3523=)
c.723A>G (p.Arg241=)
c.1925A>G
c.1666A>G
c.4060A>G (n.4060A>G)
c.10443A>G (p.Arg3481=)
n.4372A>G
c.10572A>G (p.Arg3524=)
 ClinVar
2g.73572446A>TCA347283764ALMS1c.10188A>T (p.Arg3396Ser)
c.3274A>T
c.7469A>T
c.4635A>T (p.Arg1545Ser)
c.7514A>T
c.10569A>T (p.Arg3523Ser)
c.723A>T (p.Arg241Ser)
c.1925A>T
c.1666A>T
c.4060A>T (n.4060A>T)
c.10443A>T (p.Arg3481Ser)
n.4372A>T
c.10572A>T (p.Arg3524Ser)
2g.73572447G>ACA1715027ALMS1c.10189G>A (p.Glu3397Lys)
c.3275G>A
c.7470G>A
c.4636G>A (p.Glu1546Lys)
c.7515G>A
c.10570G>A (p.Glu3524Lys)
c.724G>A (p.Glu242Lys)
c.1926G>A
c.1667G>A
c.4061G>A (n.4061G>A)
c.10444G>A (p.Glu3482Lys)
n.4373G>A
c.10573G>A (p.Glu3525Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572447G>CCA347283765ALMS1c.10189G>C (p.Glu3397Gln)
c.3275G>C
c.7470G>C
c.4636G>C (p.Glu1546Gln)
c.7515G>C
c.10570G>C (p.Glu3524Gln)
c.724G>C (p.Glu242Gln)
c.1926G>C
c.1667G>C
c.4061G>C (n.4061G>C)
c.10444G>C (p.Glu3482Gln)
n.4373G>C
c.10573G>C (p.Glu3525Gln)
2g.73572447G=CA1261021201ALMS1c.10189G= (p.Glu3397=)
c.3275G=
c.7470G=
c.4636G= (p.Glu1546=)
c.7515G=
c.10570G= (p.Glu3524=)
c.724G= (p.Glu242=)
c.1926G=
c.1667G=
c.4061G= (n.4061G=)
c.10444G= (p.Glu3482=)
n.4373G=
c.10573G= (p.Glu3525=)
2g.73572447G>TCA347283768ALMS1c.10189G>T (p.Glu3397Ter)
c.3275G>T
c.7470G>T
c.4636G>T (p.Glu1546Ter)
c.7515G>T
c.10570G>T (p.Glu3524Ter)
c.724G>T (p.Glu242Ter)
c.1926G>T
c.1667G>T
c.4061G>T (n.4061G>T)
c.10444G>T (p.Glu3482Ter)
n.4373G>T
c.10573G>T (p.Glu3525Ter)
2g.73572448A>CCA347283773ALMS1c.10190A>C (p.Glu3397Ala)
c.3276A>C
c.7471A>C
c.4637A>C (p.Glu1546Ala)
c.7516A>C
c.10571A>C (p.Glu3524Ala)
c.725A>C (p.Glu242Ala)
c.1927A>C
c.1668A>C
c.4062A>C (n.4062A>C)
c.10445A>C (p.Glu3482Ala)
n.4374A>C
c.10574A>C (p.Glu3525Ala)
2g.73572448A>GCA347283776ALMS1c.10190A>G (p.Glu3397Gly)
c.3276A>G
c.7471A>G
c.4637A>G (p.Glu1546Gly)
c.7516A>G
c.10571A>G (p.Glu3524Gly)
c.725A>G (p.Glu242Gly)
c.1927A>G
c.1668A>G
c.4062A>G (n.4062A>G)
c.10445A>G (p.Glu3482Gly)
n.4374A>G
c.10574A>G (p.Glu3525Gly)
2g.73572448A>TCA347283771ALMS1c.10190A>T (p.Glu3397Val)
c.3276A>T
c.7471A>T
c.4637A>T (p.Glu1546Val)
c.7516A>T
c.10571A>T (p.Glu3524Val)
c.725A>T (p.Glu242Val)
c.1927A>T
c.1668A>T
c.4062A>T (n.4062A>T)
c.10445A>T (p.Glu3482Val)
n.4374A>T
c.10574A>T (p.Glu3525Val)
2g.73572449A=CA1261021207ALMS1c.10191A= (p.Glu3397=)
c.3277A=
c.7472A=
c.4638A= (p.Glu1546=)
c.7517A=
c.10572A= (p.Glu3524=)
c.726A= (p.Glu242=)
c.1928A=
c.1669A=
c.4063A= (n.4063A=)
c.10446A= (p.Glu3482=)
n.4375A=
c.10575A= (p.Glu3525=)
2g.73572449A>CCA347283778ALMS1c.10191A>C (p.Glu3397Asp)
c.3277A>C
c.7472A>C
c.4638A>C (p.Glu1546Asp)
c.7517A>C
c.10572A>C (p.Glu3524Asp)
c.726A>C (p.Glu242Asp)
c.1928A>C
c.1669A>C
c.4063A>C (n.4063A>C)
c.10446A>C (p.Glu3482Asp)
n.4375A>C
c.10575A>C (p.Glu3525Asp)
2g.73572449A>GCA427024711ALMS1c.10191A>G (p.Glu3397=)
c.3277A>G
c.7472A>G
c.4638A>G (p.Glu1546=)
c.7517A>G
c.10572A>G (p.Glu3524=)
c.726A>G (p.Glu242=)
c.1928A>G
c.1669A>G
c.4063A>G (n.4063A>G)
c.10446A>G (p.Glu3482=)
n.4375A>G
c.10575A>G (p.Glu3525=)
 ClinVar dbSNP gnomAD v4
2g.73572449A>TCA347283781ALMS1c.10191A>T (p.Glu3397Asp)
c.3277A>T
c.7472A>T
c.4638A>T (p.Glu1546Asp)
c.7517A>T
c.10572A>T (p.Glu3524Asp)
c.726A>T (p.Glu242Asp)
c.1928A>T
c.1669A>T
c.4063A>T (n.4063A>T)
c.10446A>T (p.Glu3482Asp)
n.4375A>T
c.10575A>T (p.Glu3525Asp)
2g.73572450C>ACA347283785ALMS1c.10192C>A (p.His3398Asn)
c.3278C>A
c.7473C>A
c.4639C>A (p.His1547Asn)
c.7518C>A
c.10573C>A (p.His3525Asn)
c.727C>A (p.His243Asn)
c.1929C>A
c.1670C>A
c.4064C>A (n.4064C>A)
c.10447C>A (p.His3483Asn)
n.4376C>A
c.10576C>A (p.His3526Asn)
2g.73572450C=CA1261021208ALMS1c.10192C= (p.His3398=)
c.3278C=
c.7473C=
c.4639C= (p.His1547=)
c.7518C=
c.10573C= (p.His3525=)
c.727C= (p.His243=)
c.1929C=
c.1670C=
c.4064C= (n.4064C=)
c.10447C= (p.His3483=)
n.4376C=
c.10576C= (p.His3526=)
2g.73572450C>GCA347283788ALMS1c.10192C>G (p.His3398Asp)
c.3278C>G
c.7473C>G
c.4639C>G (p.His1547Asp)
c.7518C>G
c.10573C>G (p.His3525Asp)
c.727C>G (p.His243Asp)
c.1929C>G
c.1670C>G
c.4064C>G (n.4064C>G)
c.10447C>G (p.His3483Asp)
n.4376C>G
c.10576C>G (p.His3526Asp)
2g.73572450C>TCA1715028ALMS1c.10192C>T (p.His3398Tyr)
c.3278C>T
c.7473C>T
c.4639C>T (p.His1547Tyr)
c.7518C>T
c.10573C>T (p.His3525Tyr)
c.727C>T (p.His243Tyr)
c.1929C>T
c.1670C>T
c.4064C>T (n.4064C>T)
c.10447C>T (p.His3483Tyr)
n.4376C>T
c.10576C>T (p.His3526Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572451A>CCA347283807ALMS1c.10193A>C (p.His3398Pro)
c.3279A>C
c.7474A>C
c.4640A>C (p.His1547Pro)
c.7519A>C
c.10574A>C (p.His3525Pro)
c.728A>C (p.His243Pro)
c.1930A>C
c.1671A>C
c.4065A>C (n.4065A>C)
c.10448A>C (p.His3483Pro)
n.4377A>C
c.10577A>C (p.His3526Pro)
2g.73572451A>GCA347283809ALMS1c.10193A>G (p.His3398Arg)
c.3279A>G
c.7474A>G
c.4640A>G (p.His1547Arg)
c.7519A>G
c.10574A>G (p.His3525Arg)
c.728A>G (p.His243Arg)
c.1930A>G
c.1671A>G
c.4065A>G (n.4065A>G)
c.10448A>G (p.His3483Arg)
n.4377A>G
c.10577A>G (p.His3526Arg)
2g.73572451A>TCA347283814ALMS1c.10193A>T (p.His3398Leu)
c.3279A>T
c.7474A>T
c.4640A>T (p.His1547Leu)
c.7519A>T
c.10574A>T (p.His3525Leu)
c.728A>T (p.His243Leu)
c.1930A>T
c.1671A>T
c.4065A>T (n.4065A>T)
c.10448A>T (p.His3483Leu)
n.4377A>T
c.10577A>T (p.His3526Leu)
2g.73572456_73572482delCA2554183417ALMS1c.10198_10224del (p.Cys3400_Met3408del)
c.3284_3310del
c.7479_7505del
c.4645_4671del (p.Cys1549_Met1557del)
c.7524_7550del
c.10579_10605del (p.Cys3527_Met3535del)
c.733_759del (p.Cys245_Met253del)
c.1935_1961del
c.1676_1702del
c.4070_4096del (n.4070_4096del)
c.10453_10479del (p.Cys3485_Met3493del)
n.4382_4408del
c.10582_10608del (p.Cys3528_Met3536del)
2g.73572452C>ACA347283821ALMS1c.10194C>A (p.His3398Gln)
c.3280C>A
c.7475C>A
c.4641C>A (p.His1547Gln)
c.7520C>A
c.10575C>A (p.His3525Gln)
c.729C>A (p.His243Gln)
c.1931C>A
c.1672C>A
c.4066C>A (n.4066C>A)
c.10449C>A (p.His3483Gln)
n.4378C>A
c.10578C>A (p.His3526Gln)
 ClinVar dbSNP
2g.73572452C=CA1261021210ALMS1c.10194C= (p.His3398=)
c.3280C=
c.7475C=
c.4641C= (p.His1547=)
c.7520C=
c.10575C= (p.His3525=)
c.729C= (p.His243=)
c.1931C=
c.1672C=
c.4066C= (n.4066C=)
c.10449C= (p.His3483=)
n.4378C=
c.10578C= (p.His3526=)
2g.73572452C>GCA347283823ALMS1c.10194C>G (p.His3398Gln)
c.3280C>G
c.7475C>G
c.4641C>G (p.His1547Gln)
c.7520C>G
c.10575C>G (p.His3525Gln)
c.729C>G (p.His243Gln)
c.1931C>G
c.1672C>G
c.4066C>G (n.4066C>G)
c.10449C>G (p.His3483Gln)
n.4378C>G
c.10578C>G (p.His3526Gln)
2g.73572452C>TCA427024736ALMS1c.10194C>T (p.His3398=)
c.3280C>T
c.7475C>T
c.4641C>T (p.His1547=)
c.7520C>T
c.10575C>T (p.His3525=)
c.729C>T (p.His243=)
c.1931C>T
c.1672C>T
c.4066C>T (n.4066C>T)
c.10449C>T (p.His3483=)
n.4378C>T
c.10578C>T (p.His3526=)
2g.73572452_73572454delinsCATCA1261021209ALMS1c.10194_10196delinsCAT (p.His3398=)
c.3280_3282delinsCAT
c.7475_7477delinsCAT
c.4641_4643delinsCAT (p.His1547=)
c.7520_7522delinsCAT
c.10575_10577delinsCAT (p.His3525=)
c.729_731delinsCAT (p.His243=)
c.1931_1933delinsCAT
c.1672_1674delinsCAT
c.4066_4068delinsCAT (n.4066_4068delinsCAT)
c.10449_10451delinsCAT (p.His3483=)
n.4378_4380delinsCAT
c.10578_10580delinsCAT (p.His3526=)
2g.73572453A>CCA347283830ALMS1c.10195A>C (p.Met3399Leu)
c.3281A>C
c.7476A>C
c.4642A>C (p.Met1548Leu)
c.7521A>C
c.10576A>C (p.Met3526Leu)
c.730A>C (p.Met244Leu)
c.1932A>C
c.1673A>C
c.4067A>C (n.4067A>C)
c.10450A>C (p.Met3484Leu)
n.4379A>C
c.10579A>C (p.Met3527Leu)
 gnomAD v4
2g.73572453A>GCA347283833ALMS1c.10195A>G (p.Met3399Val)
c.3281A>G
c.7476A>G
c.4642A>G (p.Met1548Val)
c.7521A>G
c.10576A>G (p.Met3526Val)
c.730A>G (p.Met244Val)
c.1932A>G
c.1673A>G
c.4067A>G (n.4067A>G)
c.10450A>G (p.Met3484Val)
n.4379A>G
c.10579A>G (p.Met3527Val)
 gnomAD v4
2g.73572453A>TCA347283843ALMS1c.10195A>T (p.Met3399Leu)
c.3281A>T
c.7476A>T
c.4642A>T (p.Met1548Leu)
c.7521A>T
c.10576A>T (p.Met3526Leu)
c.730A>T (p.Met244Leu)
c.1932A>T
c.1673A>T
c.4067A>T (n.4067A>T)
c.10450A>T (p.Met3484Leu)
n.4379A>T
c.10579A>T (p.Met3527Leu)
 gnomAD v4
2g.73572453_73572454delCA1715029ALMS1c.10195_10196del (p.Met3399ValfsTer13)
c.3281_3282del
c.7476_7477del
c.4642_4643del (p.Met1548ValfsTer13)
c.7521_7522del
c.10576_10577del (p.Met3526ValfsTer13)
c.730_731del (p.Met244ValfsTer13)
c.1932_1933del
c.1673_1674del
c.4067_4068del (n.4067_4068del)
c.10450_10451del (p.Met3484ValfsTer13)
n.4379_4380del
c.10579_10580del (p.Met3527ValfsTer13)
 dbSNP ExAC gnomAD v2
2g.73572454T>ACA347283855ALMS1c.10196T>A (p.Met3399Lys)
c.3282T>A
c.7477T>A
c.4643T>A (p.Met1548Lys)
c.7522T>A
c.10577T>A (p.Met3526Lys)
c.731T>A (p.Met244Lys)
c.1933T>A
c.1674T>A
c.4068T>A (n.4068T>A)
c.10451T>A (p.Met3484Lys)
n.4380T>A
c.10580T>A (p.Met3527Lys)
2g.73572454T>CCA347283849ALMS1c.10196T>C (p.Met3399Thr)
c.3282T>C
c.7477T>C
c.4643T>C (p.Met1548Thr)
c.7522T>C
c.10577T>C (p.Met3526Thr)
c.731T>C (p.Met244Thr)
c.1933T>C
c.1674T>C
c.4068T>C (n.4068T>C)
c.10451T>C (p.Met3484Thr)
n.4380T>C
c.10580T>C (p.Met3527Thr)
2g.73572454T>GCA347283852ALMS1c.10196T>G (p.Met3399Arg)
c.3282T>G
c.7477T>G
c.4643T>G (p.Met1548Arg)
c.7522T>G
c.10577T>G (p.Met3526Arg)
c.731T>G (p.Met244Arg)
c.1933T>G
c.1674T>G
c.4068T>G (n.4068T>G)
c.10451T>G (p.Met3484Arg)
n.4380T>G
c.10580T>G (p.Met3527Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572454T=CA1261021215ALMS1c.10196T= (p.Met3399=)
c.3282T=
c.7477T=
c.4643T= (p.Met1548=)
c.7522T=
c.10577T= (p.Met3526=)
c.731T= (p.Met244=)
c.1933T=
c.1674T=
c.4068T= (n.4068T=)
c.10451T= (p.Met3484=)
n.4380T=
c.10580T= (p.Met3527=)
2g.73572455delCA2499216269ALMS1c.10197del (p.Met3399IlefsTer20)
c.3283del
c.7478del
c.4644del (p.Met1548IlefsTer20)
c.7523del
c.10578del (p.Met3526IlefsTer20)
c.732del (p.Met244IlefsTer20)
c.1934del
c.1675del
c.4069del (n.4069del)
c.10452del (p.Met3484IlefsTer20)
n.4381del
c.10581del (p.Met3527IlefsTer20)
 ClinVar dbSNP gnomAD v4
2g.73572455G>ACA1715030ALMS1c.10197G>A (p.Met3399Ile)
c.3283G>A
c.7478G>A
c.4644G>A (p.Met1548Ile)
c.7523G>A
c.10578G>A (p.Met3526Ile)
c.732G>A (p.Met244Ile)
c.1934G>A
c.1675G>A
c.4069G>A (n.4069G>A)
c.10452G>A (p.Met3484Ile)
n.4381G>A
c.10581G>A (p.Met3527Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572455G>CCA347283861ALMS1c.10197G>C (p.Met3399Ile)
c.3283G>C
c.7478G>C
c.4644G>C (p.Met1548Ile)
c.7523G>C
c.10578G>C (p.Met3526Ile)
c.732G>C (p.Met244Ile)
c.1934G>C
c.1675G>C
c.4069G>C (n.4069G>C)
c.10452G>C (p.Met3484Ile)
n.4381G>C
c.10581G>C (p.Met3527Ile)
 ClinVar
2g.73572455G=CA1261021217ALMS1c.10197G= (p.Met3399=)
c.3283G=
c.7478G=
c.4644G= (p.Met1548=)
c.7523G=
c.10578G= (p.Met3526=)
c.732G= (p.Met244=)
c.1934G=
c.1675G=
c.4069G= (n.4069G=)
c.10452G= (p.Met3484=)
n.4381G=
c.10581G= (p.Met3527=)
2g.73572455G>TCA347283865ALMS1c.10197G>T (p.Met3399Ile)
c.3283G>T
c.7478G>T
c.4644G>T (p.Met1548Ile)
c.7523G>T
c.10578G>T (p.Met3526Ile)
c.732G>T (p.Met244Ile)
c.1934G>T
c.1675G>T
c.4069G>T (n.4069G>T)
c.10452G>T (p.Met3484Ile)
n.4381G>T
c.10581G>T (p.Met3527Ile)
2g.73572456T>ACA347283868ALMS1c.10198T>A (p.Cys3400Ser)
c.3284T>A
c.7479T>A
c.4645T>A (p.Cys1549Ser)
c.7524T>A
c.10579T>A (p.Cys3527Ser)
c.733T>A (p.Cys245Ser)
c.1935T>A
c.1676T>A
c.4070T>A (n.4070T>A)
c.10453T>A (p.Cys3485Ser)
n.4382T>A
c.10582T>A (p.Cys3528Ser)
2g.73572456T>CCA347283872ALMS1c.10198T>C (p.Cys3400Arg)
c.3284T>C
c.7479T>C
c.4645T>C (p.Cys1549Arg)
c.7524T>C
c.10579T>C (p.Cys3527Arg)
c.733T>C (p.Cys245Arg)
c.1935T>C
c.1676T>C
c.4070T>C (n.4070T>C)
c.10453T>C (p.Cys3485Arg)
n.4382T>C
c.10582T>C (p.Cys3528Arg)
2g.73572456T>GCA347283882ALMS1c.10198T>G (p.Cys3400Gly)
c.3284T>G
c.7479T>G
c.4645T>G (p.Cys1549Gly)
c.7524T>G
c.10579T>G (p.Cys3527Gly)
c.733T>G (p.Cys245Gly)
c.1935T>G
c.1676T>G
c.4070T>G (n.4070T>G)
c.10453T>G (p.Cys3485Gly)
n.4382T>G
c.10582T>G (p.Cys3528Gly)
2g.73572457G>ACA347283887ALMS1c.10199G>A (p.Cys3400Tyr)
c.3285G>A
c.7480G>A
c.4646G>A (p.Cys1549Tyr)
c.7525G>A
c.10580G>A (p.Cys3527Tyr)
c.734G>A (p.Cys245Tyr)
c.1936G>A
c.1677G>A
c.4071G>A (n.4071G>A)
c.10454G>A (p.Cys3485Tyr)
n.4383G>A
c.10583G>A (p.Cys3528Tyr)
2g.73572457G>CCA347283893ALMS1c.10199G>C (p.Cys3400Ser)
c.3285G>C
c.7480G>C
c.4646G>C (p.Cys1549Ser)
c.7525G>C
c.10580G>C (p.Cys3527Ser)
c.734G>C (p.Cys245Ser)
c.1936G>C
c.1677G>C
c.4071G>C (n.4071G>C)
c.10454G>C (p.Cys3485Ser)
n.4383G>C
c.10583G>C (p.Cys3528Ser)
2g.73572457G>TCA347283896ALMS1c.10199G>T (p.Cys3400Phe)
c.3285G>T
c.7480G>T
c.4646G>T (p.Cys1549Phe)
c.7525G>T
c.10580G>T (p.Cys3527Phe)
c.734G>T (p.Cys245Phe)
c.1936G>T
c.1677G>T
c.4071G>T (n.4071G>T)
c.10454G>T (p.Cys3485Phe)
n.4383G>T
c.10583G>T (p.Cys3528Phe)
2g.73572458T>ACA347283899ALMS1c.10200T>A (p.Cys3400Ter)
c.3286T>A
c.7481T>A
c.4647T>A (p.Cys1549Ter)
c.7526T>A
c.10581T>A (p.Cys3527Ter)
c.735T>A (p.Cys245Ter)
c.1937T>A
c.1678T>A
c.4072T>A (n.4072T>A)
c.10455T>A (p.Cys3485Ter)
n.4384T>A
c.10584T>A (p.Cys3528Ter)
2g.73572458T>CCA427024756ALMS1c.10200T>C (p.Cys3400=)
c.3286T>C
c.7481T>C
c.4647T>C (p.Cys1549=)
c.7526T>C
c.10581T>C (p.Cys3527=)
c.735T>C (p.Cys245=)
c.1937T>C
c.1678T>C
c.4072T>C (n.4072T>C)
c.10455T>C (p.Cys3485=)
n.4384T>C
c.10584T>C (p.Cys3528=)
2g.73572458T>GCA347283901ALMS1c.10200T>G (p.Cys3400Trp)
c.3286T>G
c.7481T>G
c.4647T>G (p.Cys1549Trp)
c.7526T>G
c.10581T>G (p.Cys3527Trp)
c.735T>G (p.Cys245Trp)
c.1937T>G
c.1678T>G
c.4072T>G (n.4072T>G)
c.10455T>G (p.Cys3485Trp)
n.4384T>G
c.10584T>G (p.Cys3528Trp)
2g.73572459C>ACA347283916ALMS1c.10201C>A (p.Leu3401Ile)
c.3287C>A
c.7482C>A
c.4648C>A (p.Leu1550Ile)
c.7527C>A
c.10582C>A (p.Leu3528Ile)
c.736C>A (p.Leu246Ile)
c.1938C>A
c.1679C>A
c.4073C>A (n.4073C>A)
c.10456C>A (p.Leu3486Ile)
n.4385C>A
c.10585C>A (p.Leu3529Ile)
2g.73572459C>GCA347283913ALMS1c.10201C>G (p.Leu3401Val)
c.3287C>G
c.7482C>G
c.4648C>G (p.Leu1550Val)
c.7527C>G
c.10582C>G (p.Leu3528Val)
c.736C>G (p.Leu246Val)
c.1938C>G
c.1679C>G
c.4073C>G (n.4073C>G)
c.10456C>G (p.Leu3486Val)
n.4385C>G
c.10585C>G (p.Leu3529Val)
2g.73572459C>TCA347283910ALMS1c.10201C>T (p.Leu3401Phe)
c.3287C>T
c.7482C>T
c.4648C>T (p.Leu1550Phe)
c.7527C>T
c.10582C>T (p.Leu3528Phe)
c.736C>T (p.Leu246Phe)
c.1938C>T
c.1679C>T
c.4073C>T (n.4073C>T)
c.10456C>T (p.Leu3486Phe)
n.4385C>T
c.10585C>T (p.Leu3529Phe)
 gnomAD v4
2g.73572459dupCA2659617082ALMS1c.10201dup (p.Leu3401ProfsTer12)
c.3287dup
c.7482dup
c.4648dup (p.Leu1550ProfsTer12)
c.7527dup
c.10582dup (p.Leu3528ProfsTer12)
c.736dup (p.Leu246ProfsTer12)
c.1938dup
c.1679dup
c.4073dup (n.4073dup)
c.10456dup (p.Leu3486ProfsTer12)
n.4385dup
c.10585dup (p.Leu3529ProfsTer12)
 gnomAD v4
2g.73572460T>ACA347283919ALMS1c.10202T>A (p.Leu3401His)
c.3288T>A
c.7483T>A
c.4649T>A (p.Leu1550His)
c.7528T>A
c.10583T>A (p.Leu3528His)
c.737T>A (p.Leu246His)
c.1939T>A
c.1680T>A
c.4074T>A (n.4074T>A)
c.10457T>A (p.Leu3486His)
n.4386T>A
c.10586T>A (p.Leu3529His)
2g.73572460T>CCA347283923ALMS1c.10202T>C (p.Leu3401Pro)
c.3288T>C
c.7483T>C
c.4649T>C (p.Leu1550Pro)
c.7528T>C
c.10583T>C (p.Leu3528Pro)
c.737T>C (p.Leu246Pro)
c.1939T>C
c.1680T>C
c.4074T>C (n.4074T>C)
c.10457T>C (p.Leu3486Pro)
n.4386T>C
c.10586T>C (p.Leu3529Pro)
2g.73572460T>GCA347283926ALMS1c.10202T>G (p.Leu3401Arg)
c.3288T>G
c.7483T>G
c.4649T>G (p.Leu1550Arg)
c.7528T>G
c.10583T>G (p.Leu3528Arg)
c.737T>G (p.Leu246Arg)
c.1939T>G
c.1680T>G
c.4074T>G (n.4074T>G)
c.10457T>G (p.Leu3486Arg)
n.4386T>G
c.10586T>G (p.Leu3529Arg)
2g.73572461T>ACA427024763ALMS1c.10203T>A (p.Leu3401=)
c.3289T>A
c.7484T>A
c.4650T>A (p.Leu1550=)
c.7529T>A
c.10584T>A (p.Leu3528=)
c.738T>A (p.Leu246=)
c.1940T>A
c.1681T>A
c.4075T>A (n.4075T>A)
c.10458T>A (p.Leu3486=)
n.4387T>A
c.10587T>A (p.Leu3529=)
2g.73572461T>CCA427024765ALMS1c.10203T>C (p.Leu3401=)
c.3289T>C
c.7484T>C
c.4650T>C (p.Leu1550=)
c.7529T>C
c.10584T>C (p.Leu3528=)
c.738T>C (p.Leu246=)
c.1940T>C
c.1681T>C
c.4075T>C (n.4075T>C)
c.10458T>C (p.Leu3486=)
n.4387T>C
c.10587T>C (p.Leu3529=)
2g.73572461T>GCA427024766ALMS1c.10203T>G (p.Leu3401=)
c.3289T>G
c.7484T>G
c.4650T>G (p.Leu1550=)
c.7529T>G
c.10584T>G (p.Leu3528=)
c.738T>G (p.Leu246=)
c.1940T>G
c.1681T>G
c.4075T>G (n.4075T>G)
c.10458T>G (p.Leu3486=)
n.4387T>G
c.10587T>G (p.Leu3529=)
2g.73572462C>ACA347283931ALMS1c.10204C>A (p.Pro3402Thr)
c.3290C>A
c.7485C>A
c.4651C>A (p.Pro1551Thr)
c.7530C>A
c.10585C>A (p.Pro3529Thr)
c.739C>A (p.Pro247Thr)
c.1941C>A
c.1682C>A
c.4076C>A (n.4076C>A)
c.10459C>A (p.Pro3487Thr)
n.4388C>A
c.10588C>A (p.Pro3530Thr)
2g.73572462C>GCA347283933ALMS1c.10204C>G (p.Pro3402Ala)
c.3290C>G
c.7485C>G
c.4651C>G (p.Pro1551Ala)
c.7530C>G
c.10585C>G (p.Pro3529Ala)
c.739C>G (p.Pro247Ala)
c.1941C>G
c.1682C>G
c.4076C>G (n.4076C>G)
c.10459C>G (p.Pro3487Ala)
n.4388C>G
c.10588C>G (p.Pro3530Ala)
2g.73572462C>TCA347283936ALMS1c.10204C>T (p.Pro3402Ser)
c.3290C>T
c.7485C>T
c.4651C>T (p.Pro1551Ser)
c.7530C>T
c.10585C>T (p.Pro3529Ser)
c.739C>T (p.Pro247Ser)
c.1941C>T
c.1682C>T
c.4076C>T (n.4076C>T)
c.10459C>T (p.Pro3487Ser)
n.4388C>T
c.10588C>T (p.Pro3530Ser)
2g.73572463C>ACA347283939ALMS1c.10205C>A (p.Pro3402His)
c.3291C>A
c.7486C>A
c.4652C>A (p.Pro1551His)
c.7531C>A
c.10586C>A (p.Pro3529His)
c.740C>A (p.Pro247His)
c.1942C>A
c.1683C>A
c.4077C>A (n.4077C>A)
c.10460C>A (p.Pro3487His)
n.4389C>A
c.10589C>A (p.Pro3530His)
2g.73572463C=CA1261021219ALMS1c.10205C= (p.Pro3402=)
c.3291C=
c.7486C=
c.4652C= (p.Pro1551=)
c.7531C=
c.10586C= (p.Pro3529=)
c.740C= (p.Pro247=)
c.1942C=
c.1683C=
c.4077C= (n.4077C=)
c.10460C= (p.Pro3487=)
n.4389C=
c.10589C= (p.Pro3530=)
2g.73572463C>GCA1715031ALMS1c.10205C>G (p.Pro3402Arg)
c.3291C>G
c.7486C>G
c.4652C>G (p.Pro1551Arg)
c.7531C>G
c.10586C>G (p.Pro3529Arg)
c.740C>G (p.Pro247Arg)
c.1942C>G
c.1683C>G
c.4077C>G (n.4077C>G)
c.10460C>G (p.Pro3487Arg)
n.4389C>G
c.10589C>G (p.Pro3530Arg)
 dbSNP ExAC gnomAD v2
2g.73572463C>TCA347283944ALMS1c.10205C>T (p.Pro3402Leu)
c.3291C>T
c.7486C>T
c.4652C>T (p.Pro1551Leu)
c.7531C>T
c.10586C>T (p.Pro3529Leu)
c.740C>T (p.Pro247Leu)
c.1942C>T
c.1683C>T
c.4077C>T (n.4077C>T)
c.10460C>T (p.Pro3487Leu)
n.4389C>T
c.10589C>T (p.Pro3530Leu)
 dbSNP gnomAD v4
2g.73572464T>ACA427024772ALMS1c.10206T>A (p.Pro3402=)
c.3292T>A
c.7487T>A
c.4653T>A (p.Pro1551=)
c.7532T>A
c.10587T>A (p.Pro3529=)
c.741T>A (p.Pro247=)
c.1943T>A
c.1684T>A
c.4078T>A (n.4078T>A)
c.10461T>A (p.Pro3487=)
n.4390T>A
c.10590T>A (p.Pro3530=)
2g.73572464T>CCA427024776ALMS1c.10206T>C (p.Pro3402=)
c.3292T>C
c.7487T>C
c.4653T>C (p.Pro1551=)
c.7532T>C
c.10587T>C (p.Pro3529=)
c.741T>C (p.Pro247=)
c.1943T>C
c.1684T>C
c.4078T>C (n.4078T>C)
c.10461T>C (p.Pro3487=)
n.4390T>C
c.10590T>C (p.Pro3530=)
 dbSNP
2g.73572464T>GCA427024779ALMS1c.10206T>G (p.Pro3402=)
c.3292T>G
c.7487T>G
c.4653T>G (p.Pro1551=)
c.7532T>G
c.10587T>G (p.Pro3529=)
c.741T>G (p.Pro247=)
c.1943T>G
c.1684T>G
c.4078T>G (n.4078T>G)
c.10461T>G (p.Pro3487=)
n.4390T>G
c.10590T>G (p.Pro3530=)
2g.73572464T=CA1261021220ALMS1c.10206T= (p.Pro3402=)
c.3292T=
c.7487T=
c.4653T= (p.Pro1551=)
c.7532T=
c.10587T= (p.Pro3529=)
c.741T= (p.Pro247=)
c.1943T=
c.1684T=
c.4078T= (n.4078T=)
c.10461T= (p.Pro3487=)
n.4390T=
c.10590T= (p.Pro3530=)
2g.73572465C>ACA347283948ALMS1c.10207C>A (p.Leu3403Ile)
c.3293C>A
c.7488C>A
c.4654C>A (p.Leu1552Ile)
c.7533C>A
c.10588C>A (p.Leu3530Ile)
c.742C>A (p.Leu248Ile)
c.1944C>A
c.1685C>A
c.4079C>A (n.4079C>A)
c.10462C>A (p.Leu3488Ile)
n.4391C>A
c.10591C>A (p.Leu3531Ile)
2g.73572465C=CA1261021221ALMS1c.10207C= (p.Leu3403=)
c.3293C=
c.7488C=
c.4654C= (p.Leu1552=)
c.7533C=
c.10588C= (p.Leu3530=)
c.742C= (p.Leu248=)
c.1944C=
c.1685C=
c.4079C= (n.4079C=)
c.10462C= (p.Leu3488=)
n.4391C=
c.10591C= (p.Leu3531=)
2g.73572465C>GCA347283951ALMS1c.10207C>G (p.Leu3403Val)
c.3293C>G
c.7488C>G
c.4654C>G (p.Leu1552Val)
c.7533C>G
c.10588C>G (p.Leu3530Val)
c.742C>G (p.Leu248Val)
c.1944C>G
c.1685C>G
c.4079C>G (n.4079C>G)
c.10462C>G (p.Leu3488Val)
n.4391C>G
c.10591C>G (p.Leu3531Val)
 ClinVar
2g.73572465C>TCA1715032ALMS1c.10207C>T (p.Leu3403Phe)
c.3293C>T
c.7488C>T
c.4654C>T (p.Leu1552Phe)
c.7533C>T
c.10588C>T (p.Leu3530Phe)
c.742C>T (p.Leu248Phe)
c.1944C>T
c.1685C>T
c.4079C>T (n.4079C>T)
c.10462C>T (p.Leu3488Phe)
n.4391C>T
c.10591C>T (p.Leu3531Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572468_73572471delCA2739271094ALMS1c.10210_10213del (p.Pro3404IlefsTer14)
c.3296_3299del
c.7491_7494del
c.4657_4660del (p.Pro1553IlefsTer14)
c.7536_7539del
c.10591_10594del (p.Pro3531IlefsTer14)
c.745_748del (p.Pro249IlefsTer14)
c.1947_1950del
c.1688_1691del
c.4082_4085del (n.4082_4085del)
c.10465_10468del (p.Pro3489IlefsTer14)
n.4394_4397del
c.10594_10597del (p.Pro3532IlefsTer14)
 ClinVar
2g.73572466T>ACA347283963ALMS1c.10208T>A (p.Leu3403His)
c.3294T>A
c.7489T>A
c.4655T>A (p.Leu1552His)
c.7534T>A
c.10589T>A (p.Leu3530His)
c.743T>A (p.Leu248His)
c.1945T>A
c.1686T>A
c.4080T>A (n.4080T>A)
c.10463T>A (p.Leu3488His)
n.4392T>A
c.10592T>A (p.Leu3531His)
2g.73572466T>CCA347283960ALMS1c.10208T>C (p.Leu3403Pro)
c.3294T>C
c.7489T>C
c.4655T>C (p.Leu1552Pro)
c.7534T>C
c.10589T>C (p.Leu3530Pro)
c.743T>C (p.Leu248Pro)
c.1945T>C
c.1686T>C
c.4080T>C (n.4080T>C)
c.10463T>C (p.Leu3488Pro)
n.4392T>C
c.10592T>C (p.Leu3531Pro)
2g.73572466T>GCA347283956ALMS1c.10208T>G (p.Leu3403Arg)
c.3294T>G
c.7489T>G
c.4655T>G (p.Leu1552Arg)
c.7534T>G
c.10589T>G (p.Leu3530Arg)
c.743T>G (p.Leu248Arg)
c.1945T>G
c.1686T>G
c.4080T>G (n.4080T>G)
c.10463T>G (p.Leu3488Arg)
n.4392T>G
c.10592T>G (p.Leu3531Arg)
2g.73572467T>ACA427024787ALMS1c.10209T>A (p.Leu3403=)
c.3295T>A
c.7490T>A
c.4656T>A (p.Leu1552=)
c.7535T>A
c.10590T>A (p.Leu3530=)
c.744T>A (p.Leu248=)
c.1946T>A
c.1687T>A
c.4081T>A (n.4081T>A)
c.10464T>A (p.Leu3488=)
n.4393T>A
c.10593T>A (p.Leu3531=)
2g.73572467T>CCA1715033ALMS1c.10209T>C (p.Leu3403=)
c.3295T>C
c.7490T>C
c.4656T>C (p.Leu1552=)
c.7535T>C
c.10590T>C (p.Leu3530=)
c.744T>C (p.Leu248=)
c.1946T>C
c.1687T>C
c.4081T>C (n.4081T>C)
c.10464T>C (p.Leu3488=)
n.4393T>C
c.10593T>C (p.Leu3531=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572467T>GCA427024788ALMS1c.10209T>G (p.Leu3403=)
c.3295T>G
c.7490T>G
c.4656T>G (p.Leu1552=)
c.7535T>G
c.10590T>G (p.Leu3530=)
c.744T>G (p.Leu248=)
c.1946T>G
c.1687T>G
c.4081T>G (n.4081T>G)
c.10464T>G (p.Leu3488=)
n.4393T>G
c.10593T>G (p.Leu3531=)
 gnomAD v4
2g.73572467T=CA1261021224ALMS1c.10209T= (p.Leu3403=)
c.3295T=
c.7490T=
c.4656T= (p.Leu1552=)
c.7535T=
c.10590T= (p.Leu3530=)
c.744T= (p.Leu248=)
c.1946T=
c.1687T=
c.4081T= (n.4081T=)
c.10464T= (p.Leu3488=)
n.4393T=
c.10593T= (p.Leu3531=)
2g.73572468C>ACA347283972ALMS1c.10210C>A (p.Pro3404Thr)
c.3296C>A
c.7491C>A
c.4657C>A (p.Pro1553Thr)
c.7536C>A
c.10591C>A (p.Pro3531Thr)
c.745C>A (p.Pro249Thr)
c.1947C>A
c.1688C>A
c.4082C>A (n.4082C>A)
c.10465C>A (p.Pro3489Thr)
n.4394C>A
c.10594C>A (p.Pro3532Thr)
2g.73572468C=CA1261021228ALMS1c.10210C= (p.Pro3404=)
c.3296C=
c.7491C=
c.4657C= (p.Pro1553=)
c.7536C=
c.10591C= (p.Pro3531=)
c.745C= (p.Pro249=)
c.1947C=
c.1688C=
c.4082C= (n.4082C=)
c.10465C= (p.Pro3489=)
n.4394C=
c.10594C= (p.Pro3532=)
2g.73572468C>GCA347283975ALMS1c.10210C>G (p.Pro3404Ala)
c.3296C>G
c.7491C>G
c.4657C>G (p.Pro1553Ala)
c.7536C>G
c.10591C>G (p.Pro3531Ala)
c.745C>G (p.Pro249Ala)
c.1947C>G
c.1688C>G
c.4082C>G (n.4082C>G)
c.10465C>G (p.Pro3489Ala)
n.4394C>G
c.10594C>G (p.Pro3532Ala)
2g.73572468C>TCA347283978ALMS1c.10210C>T (p.Pro3404Ser)
c.3296C>T
c.7491C>T
c.4657C>T (p.Pro1553Ser)
c.7536C>T
c.10591C>T (p.Pro3531Ser)
c.745C>T (p.Pro249Ser)
c.1947C>T
c.1688C>T
c.4082C>T (n.4082C>T)
c.10465C>T (p.Pro3489Ser)
n.4394C>T
c.10594C>T (p.Pro3532Ser)
 dbSNP
2g.73572469C>ACA347283982ALMS1c.10211C>A (p.Pro3404His)
c.3297C>A
c.7492C>A
c.4658C>A (p.Pro1553His)
c.7537C>A
c.10592C>A (p.Pro3531His)
c.746C>A (p.Pro249His)
c.1948C>A
c.1689C>A
c.4083C>A (n.4083C>A)
c.10466C>A (p.Pro3489His)
n.4395C>A
c.10595C>A (p.Pro3532His)
2g.73572469C>GCA347283983ALMS1c.10211C>G (p.Pro3404Arg)
c.3297C>G
c.7492C>G
c.4658C>G (p.Pro1553Arg)
c.7537C>G
c.10592C>G (p.Pro3531Arg)
c.746C>G (p.Pro249Arg)
c.1948C>G
c.1689C>G
c.4083C>G (n.4083C>G)
c.10466C>G (p.Pro3489Arg)
n.4395C>G
c.10595C>G (p.Pro3532Arg)
 ClinVar dbSNP
2g.73572469C>TCA347283988ALMS1c.10211C>T (p.Pro3404Leu)
c.3297C>T
c.7492C>T
c.4658C>T (p.Pro1553Leu)
c.7537C>T
c.10592C>T (p.Pro3531Leu)
c.746C>T (p.Pro249Leu)
c.1948C>T
c.1689C>T
c.4083C>T (n.4083C>T)
c.10466C>T (p.Pro3489Leu)
n.4395C>T
c.10595C>T (p.Pro3532Leu)
2g.73572470T>ACA427024796ALMS1c.10212T>A (p.Pro3404=)
c.3298T>A
c.7493T>A
c.4659T>A (p.Pro1553=)
c.7538T>A
c.10593T>A (p.Pro3531=)
c.747T>A (p.Pro249=)
c.1949T>A
c.1690T>A
c.4084T>A (n.4084T>A)
c.10467T>A (p.Pro3489=)
n.4396T>A
c.10596T>A (p.Pro3532=)
2g.73572470T>CCA427024799ALMS1c.10212T>C (p.Pro3404=)
c.3298T>C
c.7493T>C
c.4659T>C (p.Pro1553=)
c.7538T>C
c.10593T>C (p.Pro3531=)
c.747T>C (p.Pro249=)
c.1949T>C
c.1690T>C
c.4084T>C (n.4084T>C)
c.10467T>C (p.Pro3489=)
n.4396T>C
c.10596T>C (p.Pro3532=)
2g.73572470T>GCA427024801ALMS1c.10212T>G (p.Pro3404=)
c.3298T>G
c.7493T>G
c.4659T>G (p.Pro1553=)
c.7538T>G
c.10593T>G (p.Pro3531=)
c.747T>G (p.Pro249=)
c.1949T>G
c.1690T>G
c.4084T>G (n.4084T>G)
c.10467T>G (p.Pro3489=)
n.4396T>G
c.10596T>G (p.Pro3532=)
2g.73572471T>ACA347283989ALMS1c.10213T>A (p.Tyr3405Asn)
c.3299T>A
c.7494T>A
c.4660T>A (p.Tyr1554Asn)
c.7539T>A
c.10594T>A (p.Tyr3532Asn)
c.748T>A (p.Tyr250Asn)
c.1950T>A
c.1691T>A
c.4085T>A (n.4085T>A)
c.10468T>A (p.Tyr3490Asn)
n.4397T>A
c.10597T>A (p.Tyr3533Asn)
 dbSNP
2g.73572471T>CCA347283990ALMS1c.10213T>C (p.Tyr3405His)
c.3299T>C
c.7494T>C
c.4660T>C (p.Tyr1554His)
c.7539T>C
c.10594T>C (p.Tyr3532His)
c.748T>C (p.Tyr250His)
c.1950T>C
c.1691T>C
c.4085T>C (n.4085T>C)
c.10468T>C (p.Tyr3490His)
n.4397T>C
c.10597T>C (p.Tyr3533His)
2g.73572471T>GCA347283992ALMS1c.10213T>G (p.Tyr3405Asp)
c.3299T>G
c.7494T>G
c.4660T>G (p.Tyr1554Asp)
c.7539T>G
c.10594T>G (p.Tyr3532Asp)
c.748T>G (p.Tyr250Asp)
c.1950T>G
c.1691T>G
c.4085T>G (n.4085T>G)
c.10468T>G (p.Tyr3490Asp)
n.4397T>G
c.10597T>G (p.Tyr3533Asp)
2g.73572471T=CA1261021229ALMS1c.10213T= (p.Tyr3405=)
c.3299T=
c.7494T=
c.4660T= (p.Tyr1554=)
c.7539T=
c.10594T= (p.Tyr3532=)
c.748T= (p.Tyr250=)
c.1950T=
c.1691T=
c.4085T= (n.4085T=)
c.10468T= (p.Tyr3490=)
n.4397T=
c.10597T= (p.Tyr3533=)
2g.73572472A>CCA347283995ALMS1c.10214A>C (p.Tyr3405Ser)
c.3300A>C
c.7495A>C
c.4661A>C (p.Tyr1554Ser)
c.7540A>C
c.10595A>C (p.Tyr3532Ser)
c.749A>C (p.Tyr250Ser)
c.1951A>C
c.1692A>C
c.4086A>C (n.4086A>C)
c.10469A>C (p.Tyr3490Ser)
n.4398A>C
c.10598A>C (p.Tyr3533Ser)
2g.73572472A>GCA347283998ALMS1c.10214A>G (p.Tyr3405Cys)
c.3300A>G
c.7495A>G
c.4661A>G (p.Tyr1554Cys)
c.7540A>G
c.10595A>G (p.Tyr3532Cys)
c.749A>G (p.Tyr250Cys)
c.1951A>G
c.1692A>G
c.4086A>G (n.4086A>G)
c.10469A>G (p.Tyr3490Cys)
n.4398A>G
c.10598A>G (p.Tyr3533Cys)
 gnomAD v4
2g.73572472A>TCA347284001ALMS1c.10214A>T (p.Tyr3405Phe)
c.3300A>T
c.7495A>T
c.4661A>T (p.Tyr1554Phe)
c.7540A>T
c.10595A>T (p.Tyr3532Phe)
c.749A>T (p.Tyr250Phe)
c.1951A>T
c.1692A>T
c.4086A>T (n.4086A>T)
c.10469A>T (p.Tyr3490Phe)
n.4398A>T
c.10598A>T (p.Tyr3533Phe)
2g.73572473T>ACA347284011ALMS1c.10215T>A (p.Tyr3405Ter)
c.3301T>A
c.7496T>A
c.4662T>A (p.Tyr1554Ter)
c.7541T>A
c.10596T>A (p.Tyr3532Ter)
c.750T>A (p.Tyr250Ter)
c.1952T>A
c.1693T>A
c.4087T>A (n.4087T>A)
c.10470T>A (p.Tyr3490Ter)
n.4399T>A
c.10599T>A (p.Tyr3533Ter)
 gnomAD v4
2g.73572473T>CCA427024807ALMS1c.10215T>C (p.Tyr3405=)
c.3301T>C
c.7496T>C
c.4662T>C (p.Tyr1554=)
c.7541T>C
c.10596T>C (p.Tyr3532=)
c.750T>C (p.Tyr250=)
c.1952T>C
c.1693T>C
c.4087T>C (n.4087T>C)
c.10470T>C (p.Tyr3490=)
n.4399T>C
c.10599T>C (p.Tyr3533=)
2g.73572473T>GCA347284007ALMS1c.10215T>G (p.Tyr3405Ter)
c.3301T>G
c.7496T>G
c.4662T>G (p.Tyr1554Ter)
c.7541T>G
c.10596T>G (p.Tyr3532Ter)
c.750T>G (p.Tyr250Ter)
c.1952T>G
c.1693T>G
c.4087T>G (n.4087T>G)
c.10470T>G (p.Tyr3490Ter)
n.4399T>G
c.10599T>G (p.Tyr3533Ter)
2g.73572474C>ACA347284015ALMS1c.10216C>A (p.Gln3406Lys)
c.3302C>A
c.7497C>A
c.4663C>A (p.Gln1555Lys)
c.7542C>A
c.10597C>A (p.Gln3533Lys)
c.751C>A (p.Gln251Lys)
c.1953C>A
c.1694C>A
c.4088C>A (n.4088C>A)
c.10471C>A (p.Gln3491Lys)
n.4400C>A
c.10600C>A (p.Gln3534Lys)
2g.73572474C>GCA347284018ALMS1c.10216C>G (p.Gln3406Glu)
c.3302C>G
c.7497C>G
c.4663C>G (p.Gln1555Glu)
c.7542C>G
c.10597C>G (p.Gln3533Glu)
c.751C>G (p.Gln251Glu)
c.1953C>G
c.1694C>G
c.4088C>G (n.4088C>G)
c.10471C>G (p.Gln3491Glu)
n.4400C>G
c.10600C>G (p.Gln3534Glu)
2g.73572474C>TCA347284017ALMS1c.10216C>T (p.Gln3406Ter)
c.3302C>T
c.7497C>T
c.4663C>T (p.Gln1555Ter)
c.7542C>T
c.10597C>T (p.Gln3533Ter)
c.751C>T (p.Gln251Ter)
c.1953C>T
c.1694C>T
c.4088C>T (n.4088C>T)
c.10471C>T (p.Gln3491Ter)
n.4400C>T
c.10600C>T (p.Gln3534Ter)
2g.73572475A=CA1261021230ALMS1c.10217A= (p.Gln3406=)
c.3303A=
c.7498A=
c.4664A= (p.Gln1555=)
c.7543A=
c.10598A= (p.Gln3533=)
c.752A= (p.Gln251=)
c.1954A=
c.1695A=
c.4089A= (n.4089A=)
c.10472A= (p.Gln3491=)
n.4401A=
c.10601A= (p.Gln3534=)
2g.73572475A>CCA347284025ALMS1c.10217A>C (p.Gln3406Pro)
c.3303A>C
c.7498A>C
c.4664A>C (p.Gln1555Pro)
c.7543A>C
c.10598A>C (p.Gln3533Pro)
c.752A>C (p.Gln251Pro)
c.1954A>C
c.1695A>C
c.4089A>C (n.4089A>C)
c.10472A>C (p.Gln3491Pro)
n.4401A>C
c.10601A>C (p.Gln3534Pro)
2g.73572475A>GCA347284032ALMS1c.10217A>G (p.Gln3406Arg)
c.3303A>G
c.7498A>G
c.4664A>G (p.Gln1555Arg)
c.7543A>G
c.10598A>G (p.Gln3533Arg)
c.752A>G (p.Gln251Arg)
c.1954A>G
c.1695A>G
c.4089A>G (n.4089A>G)
c.10472A>G (p.Gln3491Arg)
n.4401A>G
c.10601A>G (p.Gln3534Arg)
 dbSNP
2g.73572475A>TCA347284028ALMS1c.10217A>T (p.Gln3406Leu)
c.3303A>T
c.7498A>T
c.4664A>T (p.Gln1555Leu)
c.7543A>T
c.10598A>T (p.Gln3533Leu)
c.752A>T (p.Gln251Leu)
c.1954A>T
c.1695A>T
c.4089A>T (n.4089A>T)
c.10472A>T (p.Gln3491Leu)
n.4401A>T
c.10601A>T (p.Gln3534Leu)
2g.73572476A>CCA347284039ALMS1c.10218A>C (p.Gln3406His)
c.3304A>C
c.7499A>C
c.4665A>C (p.Gln1555His)
c.7544A>C
c.10599A>C (p.Gln3533His)
c.753A>C (p.Gln251His)
c.1955A>C
c.1696A>C
c.4090A>C (n.4090A>C)
c.10473A>C (p.Gln3491His)
n.4402A>C
c.10602A>C (p.Gln3534His)
2g.73572476A>GCA427024817ALMS1c.10218A>G (p.Gln3406=)
c.3304A>G
c.7499A>G
c.4665A>G (p.Gln1555=)
c.7544A>G
c.10599A>G (p.Gln3533=)
c.753A>G (p.Gln251=)
c.1955A>G
c.1696A>G
c.4090A>G (n.4090A>G)
c.10473A>G (p.Gln3491=)
n.4402A>G
c.10602A>G (p.Gln3534=)
2g.73572476A>TCA347284041ALMS1c.10218A>T (p.Gln3406His)
c.3304A>T
c.7499A>T
c.4665A>T (p.Gln1555His)
c.7544A>T
c.10599A>T (p.Gln3533His)
c.753A>T (p.Gln251His)
c.1955A>T
c.1696A>T
c.4090A>T (n.4090A>T)
c.10473A>T (p.Gln3491His)
n.4402A>T
c.10602A>T (p.Gln3534His)
2g.73572481_73572546delCA2659617091ALMS1c.10223_10288del (p.Met3408_Asn3429del)
c.3309_3374del
c.7504_7569del
c.4670_4735del (p.Met1557_Asn1578del)
c.7549_7614del
c.10604_10669del (p.Met3535_Asn3556del)
c.758_823del (p.Met253_Asn274del)
c.1960_2025del
c.1701_1766del
c.4095_4160del (n.4095_4160del)
c.10478_10543del (p.Met3493_Asn3514del)
n.4407_4472del
c.10607_10672del (p.Met3536_Asn3557del)
 gnomAD v4
2g.73572477A>CCA347284042ALMS1c.10219A>C (p.Asn3407His)
c.3305A>C
c.7500A>C
c.4666A>C (p.Asn1556His)
c.7545A>C
c.10600A>C (p.Asn3534His)
c.754A>C (p.Asn252His)
c.1956A>C
c.1697A>C
c.4091A>C (n.4091A>C)
c.10474A>C (p.Asn3492His)
n.4403A>C
c.10603A>C (p.Asn3535His)
2g.73572477A>GCA347284044ALMS1c.10219A>G (p.Asn3407Asp)
c.3305A>G
c.7500A>G
c.4666A>G (p.Asn1556Asp)
c.7545A>G
c.10600A>G (p.Asn3534Asp)
c.754A>G (p.Asn252Asp)
c.1956A>G
c.1697A>G
c.4091A>G (n.4091A>G)
c.10474A>G (p.Asn3492Asp)
n.4403A>G
c.10603A>G (p.Asn3535Asp)
2g.73572477A>TCA347284045ALMS1c.10219A>T (p.Asn3407Tyr)
c.3305A>T
c.7500A>T
c.4666A>T (p.Asn1556Tyr)
c.7545A>T
c.10600A>T (p.Asn3534Tyr)
c.754A>T (p.Asn252Tyr)
c.1956A>T
c.1697A>T
c.4091A>T (n.4091A>T)
c.10474A>T (p.Asn3492Tyr)
n.4403A>T
c.10603A>T (p.Asn3535Tyr)
2g.73572478A>CCA347284048ALMS1c.10220A>C (p.Asn3407Thr)
c.3306A>C
c.7501A>C
c.4667A>C (p.Asn1556Thr)
c.7546A>C
c.10601A>C (p.Asn3534Thr)
c.755A>C (p.Asn252Thr)
c.1957A>C
c.1698A>C
c.4092A>C (n.4092A>C)
c.10475A>C (p.Asn3492Thr)
n.4404A>C
c.10604A>C (p.Asn3535Thr)
2g.73572478A>GCA347284052ALMS1c.10220A>G (p.Asn3407Ser)
c.3306A>G
c.7501A>G
c.4667A>G (p.Asn1556Ser)
c.7546A>G
c.10601A>G (p.Asn3534Ser)
c.755A>G (p.Asn252Ser)
c.1957A>G
c.1698A>G
c.4092A>G (n.4092A>G)
c.10475A>G (p.Asn3492Ser)
n.4404A>G
c.10604A>G (p.Asn3535Ser)
2g.73572478A>TCA347284055ALMS1c.10220A>T (p.Asn3407Ile)
c.3306A>T
c.7501A>T
c.4667A>T (p.Asn1556Ile)
c.7546A>T
c.10601A>T (p.Asn3534Ile)
c.755A>T (p.Asn252Ile)
c.1957A>T
c.1698A>T
c.4092A>T (n.4092A>T)
c.10475A>T (p.Asn3492Ile)
n.4404A>T
c.10604A>T (p.Asn3535Ile)
2g.73572479C>ACA347284059ALMS1c.10221C>A (p.Asn3407Lys)
c.3307C>A
c.7502C>A
c.4668C>A (p.Asn1556Lys)
c.7547C>A
c.10602C>A (p.Asn3534Lys)
c.756C>A (p.Asn252Lys)
c.1958C>A
c.1699C>A
c.4093C>A (n.4093C>A)
c.10476C>A (p.Asn3492Lys)
n.4405C>A
c.10605C>A (p.Asn3535Lys)
2g.73572479C>GCA347284062ALMS1c.10221C>G (p.Asn3407Lys)
c.3307C>G
c.7502C>G
c.4668C>G (p.Asn1556Lys)
c.7547C>G
c.10602C>G (p.Asn3534Lys)
c.756C>G (p.Asn252Lys)
c.1958C>G
c.1699C>G
c.4093C>G (n.4093C>G)
c.10476C>G (p.Asn3492Lys)
n.4405C>G
c.10605C>G (p.Asn3535Lys)
 gnomAD v4
2g.73572479C>TCA427024822ALMS1c.10221C>T (p.Asn3407=)
c.3307C>T
c.7502C>T
c.4668C>T (p.Asn1556=)
c.7547C>T
c.10602C>T (p.Asn3534=)
c.756C>T (p.Asn252=)
c.1958C>T
c.1699C>T
c.4093C>T (n.4093C>T)
c.10476C>T (p.Asn3492=)
n.4405C>T
c.10605C>T (p.Asn3535=)
 ClinVar gnomAD v4
2g.73572480A=CA1261021231ALMS1c.10222A= (p.Met3408=)
c.3308A=
c.7503A=
c.4669A= (p.Met1557=)
c.7548A=
c.10603A= (p.Met3535=)
c.757A= (p.Met253=)
c.1959A=
c.1700A=
c.4094A= (n.4094A=)
c.10477A= (p.Met3493=)
n.4406A=
c.10606A= (p.Met3536=)
2g.73572480A>CCA347284074ALMS1c.10222A>C (p.Met3408Leu)
c.3308A>C
c.7503A>C
c.4669A>C (p.Met1557Leu)
c.7548A>C
c.10603A>C (p.Met3535Leu)
c.757A>C (p.Met253Leu)
c.1959A>C
c.1700A>C
c.4094A>C (n.4094A>C)
c.10477A>C (p.Met3493Leu)
n.4406A>C
c.10606A>C (p.Met3536Leu)
2g.73572480A>GCA347284071ALMS1c.10222A>G (p.Met3408Val)
c.3308A>G
c.7503A>G
c.4669A>G (p.Met1557Val)
c.7548A>G
c.10603A>G (p.Met3535Val)
c.757A>G (p.Met253Val)
c.1959A>G
c.1700A>G
c.4094A>G (n.4094A>G)
c.10477A>G (p.Met3493Val)
n.4406A>G
c.10606A>G (p.Met3536Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572480A>TCA1715034ALMS1c.10222A>T (p.Met3408Leu)
c.3308A>T
c.7503A>T
c.4669A>T (p.Met1557Leu)
c.7548A>T
c.10603A>T (p.Met3535Leu)
c.757A>T (p.Met253Leu)
c.1959A>T
c.1700A>T
c.4094A>T (n.4094A>T)
c.10477A>T (p.Met3493Leu)
n.4406A>T
c.10606A>T (p.Met3536Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572481T>ACA347284085ALMS1c.10223T>A (p.Met3408Lys)
c.3309T>A
c.7504T>A
c.4670T>A (p.Met1557Lys)
c.7549T>A
c.10604T>A (p.Met3535Lys)
c.758T>A (p.Met253Lys)
c.1960T>A
c.1701T>A
c.4095T>A (n.4095T>A)
c.10478T>A (p.Met3493Lys)
n.4407T>A
c.10607T>A (p.Met3536Lys)
2g.73572481T>CCA347284087ALMS1c.10223T>C (p.Met3408Thr)
c.3309T>C
c.7504T>C
c.4670T>C (p.Met1557Thr)
c.7549T>C
c.10604T>C (p.Met3535Thr)
c.758T>C (p.Met253Thr)
c.1960T>C
c.1701T>C
c.4095T>C (n.4095T>C)
c.10478T>C (p.Met3493Thr)
n.4407T>C
c.10607T>C (p.Met3536Thr)
 gnomAD v4
2g.73572481T>GCA347284089ALMS1c.10223T>G (p.Met3408Arg)
c.3309T>G
c.7504T>G
c.4670T>G (p.Met1557Arg)
c.7549T>G
c.10604T>G (p.Met3535Arg)
c.758T>G (p.Met253Arg)
c.1960T>G
c.1701T>G
c.4095T>G (n.4095T>G)
c.10478T>G (p.Met3493Arg)
n.4407T>G
c.10607T>G (p.Met3536Arg)
2g.73572482G>ACA347284093ALMS1c.10224G>A (p.Met3408Ile)
c.3310G>A
c.7505G>A
c.4671G>A (p.Met1557Ile)
c.7550G>A
c.10605G>A (p.Met3535Ile)
c.759G>A (p.Met253Ile)
c.1961G>A
c.1702G>A
c.4096G>A (n.4096G>A)
c.10479G>A (p.Met3493Ile)
n.4408G>A
c.10608G>A (p.Met3536Ile)
 ClinVar
2g.73572482G>CCA347284096ALMS1c.10224G>C (p.Met3408Ile)
c.3310G>C
c.7505G>C
c.4671G>C (p.Met1557Ile)
c.7550G>C
c.10605G>C (p.Met3535Ile)
c.759G>C (p.Met253Ile)
c.1961G>C
c.1702G>C
c.4096G>C (n.4096G>C)
c.10479G>C (p.Met3493Ile)
n.4408G>C
c.10608G>C (p.Met3536Ile)
2g.73572482G>TCA347284099ALMS1c.10224G>T (p.Met3408Ile)
c.3310G>T
c.7505G>T
c.4671G>T (p.Met1557Ile)
c.7550G>T
c.10605G>T (p.Met3535Ile)
c.759G>T (p.Met253Ile)
c.1961G>T
c.1702G>T
c.4096G>T (n.4096G>T)
c.10479G>T (p.Met3493Ile)
n.4408G>T
c.10608G>T (p.Met3536Ile)
2g.73572483delCA2659617096ALMS1c.10225del (p.Asp3409ThrfsTer10)
c.3311del
c.7506del
c.4672del (p.Asp1558ThrfsTer10)
c.7551del
c.10606del (p.Asp3536ThrfsTer10)
c.760del (p.Asp254ThrfsTer10)
c.1962del
c.1703del
c.4097del (n.4097del)
c.10480del (p.Asp3494ThrfsTer10)
n.4409del
c.10609del (p.Asp3537ThrfsTer10)
 gnomAD v4
2g.73572483G>ACA347284102ALMS1c.10225G>A (p.Asp3409Asn)
c.3311G>A
c.7506G>A
c.4672G>A (p.Asp1558Asn)
c.7551G>A
c.10606G>A (p.Asp3536Asn)
c.760G>A (p.Asp254Asn)
c.1962G>A
c.1703G>A
c.4097G>A (n.4097G>A)
c.10480G>A (p.Asp3494Asn)
n.4409G>A
c.10609G>A (p.Asp3537Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.73572483G>CCA347284103ALMS1c.10225G>C (p.Asp3409His)
c.3311G>C
c.7506G>C
c.4672G>C (p.Asp1558His)
c.7551G>C
c.10606G>C (p.Asp3536His)
c.760G>C (p.Asp254His)
c.1962G>C
c.1703G>C
c.4097G>C (n.4097G>C)
c.10480G>C (p.Asp3494His)
n.4409G>C
c.10609G>C (p.Asp3537His)
2g.73572483G=CA1261021232ALMS1c.10225G= (p.Asp3409=)
c.3311G=
c.7506G=
c.4672G= (p.Asp1558=)
c.7551G=
c.10606G= (p.Asp3536=)
c.760G= (p.Asp254=)
c.1962G=
c.1703G=
c.4097G= (n.4097G=)
c.10480G= (p.Asp3494=)
n.4409G=
c.10609G= (p.Asp3537=)
2g.73572483G>TCA347284107ALMS1c.10225G>T (p.Asp3409Tyr)
c.3311G>T
c.7506G>T
c.4672G>T (p.Asp1558Tyr)
c.7551G>T
c.10606G>T (p.Asp3536Tyr)
c.760G>T (p.Asp254Tyr)
c.1962G>T
c.1703G>T
c.4097G>T (n.4097G>T)
c.10480G>T (p.Asp3494Tyr)
n.4409G>T
c.10609G>T (p.Asp3537Tyr)
 gnomAD v4
2g.73572483_73572484delinsTCA2586964941ALMS1c.10225_10226delinsT (p.Asp3409SerfsTer10)
c.3311_3312delinsT
c.7506_7507delinsT
c.4672_4673delinsT (p.Asp1558SerfsTer10)
c.7551_7552delinsT
c.10606_10607delinsT (p.Asp3536SerfsTer10)
c.760_761delinsT (p.Asp254SerfsTer10)
c.1962_1963delinsT
c.1703_1704delinsT
c.4097_4098delinsT (n.4097_4098delinsT)
c.10480_10481delinsT (p.Asp3494SerfsTer10)
n.4409_4410delinsT
c.10609_10610delinsT (p.Asp3537SerfsTer10)
2g.73572483_73572488delinsTCAAACA2586964942ALMS1c.10225_10230delinsTCAAA (p.Asp3409SerfsTer10)
c.3311_3316delinsTCAAA
c.7506_7511delinsTCAAA
c.4672_4677delinsTCAAA (p.Asp1558SerfsTer10)
c.7551_7556delinsTCAAA
c.10606_10611delinsTCAAA (p.Asp3536SerfsTer10)
c.760_765delinsTCAAA (p.Asp254SerfsTer10)
c.1962_1967delinsTCAAA
c.1703_1708delinsTCAAA
c.4097_4102delinsTCAAA (n.4097_4102delinsTCAAA)
c.10480_10485delinsTCAAA (p.Asp3494SerfsTer10)
n.4409_4414delinsTCAAA
c.10609_10614delinsTCAAA (p.Asp3537SerfsTer10)
2g.73572484A>CCA347284108ALMS1c.10226A>C (p.Asp3409Ala)
c.3312A>C
c.7507A>C
c.4673A>C (p.Asp1558Ala)
c.7552A>C
c.10607A>C (p.Asp3536Ala)
c.761A>C (p.Asp254Ala)
c.1963A>C
c.1704A>C
c.4098A>C (n.4098A>C)
c.10481A>C (p.Asp3494Ala)
n.4410A>C
c.10610A>C (p.Asp3537Ala)
2g.73572484A>GCA347284109ALMS1c.10226A>G (p.Asp3409Gly)
c.3312A>G
c.7507A>G
c.4673A>G (p.Asp1558Gly)
c.7552A>G
c.10607A>G (p.Asp3536Gly)
c.761A>G (p.Asp254Gly)
c.1963A>G
c.1704A>G
c.4098A>G (n.4098A>G)
c.10481A>G (p.Asp3494Gly)
n.4410A>G
c.10610A>G (p.Asp3537Gly)
 ClinVar
2g.73572484A>TCA347284110ALMS1c.10226A>T (p.Asp3409Val)
c.3312A>T
c.7507A>T
c.4673A>T (p.Asp1558Val)
c.7552A>T
c.10607A>T (p.Asp3536Val)
c.761A>T (p.Asp254Val)
c.1963A>T
c.1704A>T
c.4098A>T (n.4098A>T)
c.10481A>T (p.Asp3494Val)
n.4410A>T
c.10610A>T (p.Asp3537Val)
 gnomAD v4
2g.73572485C>ACA347284113ALMS1c.10227C>A (p.Asp3409Glu)
c.3313C>A
c.7508C>A
c.4674C>A (p.Asp1558Glu)
c.7553C>A
c.10608C>A (p.Asp3536Glu)
c.762C>A (p.Asp254Glu)
c.1964C>A
c.1705C>A
c.4099C>A (n.4099C>A)
c.10482C>A (p.Asp3494Glu)
n.4411C>A
c.10611C>A (p.Asp3537Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.73572485C=CA1261021233ALMS1c.10227C= (p.Asp3409=)
c.3313C=
c.7508C=
c.4674C= (p.Asp1558=)
c.7553C=
c.10608C= (p.Asp3536=)
c.762C= (p.Asp254=)
c.1964C=
c.1705C=
c.4099C= (n.4099C=)
c.10482C= (p.Asp3494=)
n.4411C=
c.10611C= (p.Asp3537=)
2g.73572485C>GCA50386294ALMS1c.10227C>G (p.Asp3409Glu)
c.3313C>G
c.7508C>G
c.4674C>G (p.Asp1558Glu)
c.7553C>G
c.10608C>G (p.Asp3536Glu)
c.762C>G (p.Asp254Glu)
c.1964C>G
c.1705C>G
c.4099C>G (n.4099C>G)
c.10482C>G (p.Asp3494Glu)
n.4411C>G
c.10611C>G (p.Asp3537Glu)
 dbSNP gnomAD v4
2g.73572485C>TCA1715035ALMS1c.10227C>T (p.Asp3409=)
c.3313C>T
c.7508C>T
c.4674C>T (p.Asp1558=)
c.7553C>T
c.10608C>T (p.Asp3536=)
c.762C>T (p.Asp254=)
c.1964C>T
c.1705C>T
c.4099C>T (n.4099C>T)
c.10482C>T (p.Asp3494=)
n.4411C>T
c.10611C>T (p.Asp3537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572486A>CCA347284120ALMS1c.10228A>C (p.Lys3410Gln)
c.3314A>C
c.7509A>C
c.4675A>C (p.Lys1559Gln)
c.7554A>C
c.10609A>C (p.Lys3537Gln)
c.763A>C (p.Lys255Gln)
c.1965A>C
c.1706A>C
c.4100A>C (n.4100A>C)
c.10483A>C (p.Lys3495Gln)
n.4412A>C
c.10612A>C (p.Lys3538Gln)
2g.73572486A>GCA347284123ALMS1c.10228A>G (p.Lys3410Glu)
c.3314A>G
c.7509A>G
c.4675A>G (p.Lys1559Glu)
c.7554A>G
c.10609A>G (p.Lys3537Glu)
c.763A>G (p.Lys255Glu)
c.1965A>G
c.1706A>G
c.4100A>G (n.4100A>G)
c.10483A>G (p.Lys3495Glu)
n.4412A>G
c.10612A>G (p.Lys3538Glu)
2g.73572486A>TCA347284128ALMS1c.10228A>T (p.Lys3410Ter)
c.3314A>T
c.7509A>T
c.4675A>T (p.Lys1559Ter)
c.7554A>T
c.10609A>T (p.Lys3537Ter)
c.763A>T (p.Lys255Ter)
c.1965A>T
c.1706A>T
c.4100A>T (n.4100A>T)
c.10483A>T (p.Lys3495Ter)
n.4412A>T
c.10612A>T (p.Lys3538Ter)
2g.73572487A>CCA347284133ALMS1c.10229A>C (p.Lys3410Thr)
c.3315A>C
c.7510A>C
c.4676A>C (p.Lys1559Thr)
c.7555A>C
c.10610A>C (p.Lys3537Thr)
c.764A>C (p.Lys255Thr)
c.1966A>C
c.1707A>C
c.4101A>C (n.4101A>C)
c.10484A>C (p.Lys3495Thr)
n.4413A>C
c.10613A>C (p.Lys3538Thr)
2g.73572487A>GCA347284136ALMS1c.10229A>G (p.Lys3410Arg)
c.3315A>G
c.7510A>G
c.4676A>G (p.Lys1559Arg)
c.7555A>G
c.10610A>G (p.Lys3537Arg)
c.764A>G (p.Lys255Arg)
c.1966A>G
c.1707A>G
c.4101A>G (n.4101A>G)
c.10484A>G (p.Lys3495Arg)
n.4413A>G
c.10613A>G (p.Lys3538Arg)
2g.73572487A>TCA347284139ALMS1c.10229A>T (p.Lys3410Met)
c.3315A>T
c.7510A>T
c.4676A>T (p.Lys1559Met)
c.7555A>T
c.10610A>T (p.Lys3537Met)
c.764A>T (p.Lys255Met)
c.1966A>T
c.1707A>T
c.4101A>T (n.4101A>T)
c.10484A>T (p.Lys3495Met)
n.4413A>T
c.10613A>T (p.Lys3538Met)
2g.73572488G>ACA427023997ALMS1c.10230G>A (p.Lys3410=)
c.3316G>A
c.7511G>A
c.4677G>A (p.Lys1559=)
c.7556G>A
c.10611G>A (p.Lys3537=)
c.765G>A (p.Lys255=)
c.1967G>A
c.1708G>A
c.4102G>A (n.4102G>A)
c.10485G>A (p.Lys3495=)
n.4414G>A
c.10614G>A (p.Lys3538=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572488G>CCA347284148ALMS1c.10230G>C (p.Lys3410Asn)
c.3316G>C
c.7511G>C
c.4677G>C (p.Lys1559Asn)
c.7556G>C
c.10611G>C (p.Lys3537Asn)
c.765G>C (p.Lys255Asn)
c.1967G>C
c.1708G>C
c.4102G>C (n.4102G>C)
c.10485G>C (p.Lys3495Asn)
n.4414G>C
c.10614G>C (p.Lys3538Asn)
2g.73572488G=CA1261021234ALMS1c.10230G= (p.Lys3410=)
c.3316G=
c.7511G=
c.4677G= (p.Lys1559=)
c.7556G=
c.10611G= (p.Lys3537=)
c.765G= (p.Lys255=)
c.1967G=
c.1708G=
c.4102G= (n.4102G=)
c.10485G= (p.Lys3495=)
n.4414G=
c.10614G= (p.Lys3538=)
2g.73572488G>TCA347284145ALMS1c.10230G>T (p.Lys3410Asn)
c.3316G>T
c.7511G>T
c.4677G>T (p.Lys1559Asn)
c.7556G>T
c.10611G>T (p.Lys3537Asn)
c.765G>T (p.Lys255Asn)
c.1967G>T
c.1708G>T
c.4102G>T (n.4102G>T)
c.10485G>T (p.Lys3495Asn)
n.4414G>T
c.10614G>T (p.Lys3538Asn)
2g.73572489A=CA1261021235ALMS1c.10231A= (p.Thr3411=)
c.3317A=
c.7512A=
c.4678A= (p.Thr1560=)
c.7557A=
c.10612A= (p.Thr3538=)
c.766A= (p.Thr256=)
c.1968A=
c.1709A=
c.4103A= (n.4103A=)
c.10486A= (p.Thr3496=)
n.4415A=
c.10615A= (p.Thr3539=)
2g.73572489A>CCA347284153ALMS1c.10231A>C (p.Thr3411Pro)
c.3317A>C
c.7512A>C
c.4678A>C (p.Thr1560Pro)
c.7557A>C
c.10612A>C (p.Thr3538Pro)
c.766A>C (p.Thr256Pro)
c.1968A>C
c.1709A>C
c.4103A>C (n.4103A>C)
c.10486A>C (p.Thr3496Pro)
n.4415A>C
c.10615A>C (p.Thr3539Pro)
 gnomAD v4
2g.73572489A>GCA347284156ALMS1c.10231A>G (p.Thr3411Ala)
c.3317A>G
c.7512A>G
c.4678A>G (p.Thr1560Ala)
c.7557A>G
c.10612A>G (p.Thr3538Ala)
c.766A>G (p.Thr256Ala)
c.1968A>G
c.1709A>G
c.4103A>G (n.4103A>G)
c.10486A>G (p.Thr3496Ala)
n.4415A>G
c.10615A>G (p.Thr3539Ala)
 ClinVar dbSNP gnomAD v4
2g.73572489A>TCA347284159ALMS1c.10231A>T (p.Thr3411Ser)
c.3317A>T
c.7512A>T
c.4678A>T (p.Thr1560Ser)
c.7557A>T
c.10612A>T (p.Thr3538Ser)
c.766A>T (p.Thr256Ser)
c.1968A>T
c.1709A>T
c.4103A>T (n.4103A>T)
c.10486A>T (p.Thr3496Ser)
n.4415A>T
c.10615A>T (p.Thr3539Ser)
2g.73572490C>ACA347284164ALMS1c.10232C>A (p.Thr3411Asn)
c.3318C>A
c.7513C>A
c.4679C>A (p.Thr1560Asn)
c.7558C>A
c.10613C>A (p.Thr3538Asn)
c.767C>A (p.Thr256Asn)
c.1969C>A
c.1C>A
c.1710C>A
c.4104C>A (n.4104C>A)
c.10487C>A (p.Thr3496Asn)
n.4416C>A
c.10616C>A (p.Thr3539Asn)
2g.73572490C>GCA347284166ALMS1c.10232C>G (p.Thr3411Ser)
c.3318C>G
c.7513C>G
c.4679C>G (p.Thr1560Ser)
c.7558C>G
c.10613C>G (p.Thr3538Ser)
c.767C>G (p.Thr256Ser)
c.1969C>G
c.1C>G
c.1710C>G
c.4104C>G (n.4104C>G)
c.10487C>G (p.Thr3496Ser)
n.4416C>G
c.10616C>G (p.Thr3539Ser)
2g.73572490C>TCA347284175ALMS1c.10232C>T (p.Thr3411Ile)
c.3318C>T
c.7513C>T
c.4679C>T (p.Thr1560Ile)
c.7558C>T
c.10613C>T (p.Thr3538Ile)
c.767C>T (p.Thr256Ile)
c.1969C>T
c.1C>T
c.1710C>T
c.4104C>T (n.4104C>T)
c.10487C>T (p.Thr3496Ile)
n.4416C>T
c.10616C>T (p.Thr3539Ile)
 ClinVar
2g.73572491T>ACA427024003ALMS1c.10233T>A (p.Thr3411=)
c.3319T>A
c.7514T>A
c.4680T>A (p.Thr1560=)
c.7559T>A
c.10614T>A (p.Thr3538=)
c.768T>A (p.Thr256=)
c.1970T>A
c.2T>A
c.1711T>A
c.4105T>A (n.4105T>A)
c.10488T>A (p.Thr3496=)
n.4417T>A
c.10617T>A (p.Thr3539=)
2g.73572491T>CCA427024005ALMS1c.10233T>C (p.Thr3411=)
c.3319T>C
c.7514T>C
c.4680T>C (p.Thr1560=)
c.7559T>C
c.10614T>C (p.Thr3538=)
c.768T>C (p.Thr256=)
c.1970T>C
c.2T>C
c.1711T>C
c.4105T>C (n.4105T>C)
c.10488T>C (p.Thr3496=)
n.4417T>C
c.10617T>C (p.Thr3539=)
2g.73572491T>GCA427024008ALMS1c.10233T>G (p.Thr3411=)
c.3319T>G
c.7514T>G
c.4680T>G (p.Thr1560=)
c.7559T>G
c.10614T>G (p.Thr3538=)
c.768T>G (p.Thr256=)
c.1970T>G
c.2T>G
c.1711T>G
c.4105T>G (n.4105T>G)
c.10488T>G (p.Thr3496=)
n.4417T>G
c.10617T>G (p.Thr3539=)
2g.73572492A>CCA347284179ALMS1c.10234A>C (p.Lys3412Gln)
c.3320A>C
c.7515A>C
c.4681A>C (p.Lys1561Gln)
c.7560A>C
c.10615A>C (p.Lys3539Gln)
c.769A>C (p.Lys257Gln)
c.1971A>C
c.3A>C
c.1712A>C
c.4106A>C (n.4106A>C)
c.10489A>C (p.Lys3497Gln)
n.4418A>C
c.10618A>C (p.Lys3540Gln)
2g.73572492A>GCA347284186ALMS1c.10234A>G (p.Lys3412Glu)
c.3320A>G
c.7515A>G
c.4681A>G (p.Lys1561Glu)
c.7560A>G
c.10615A>G (p.Lys3539Glu)
c.769A>G (p.Lys257Glu)
c.1971A>G
c.3A>G
c.1712A>G
c.4106A>G (n.4106A>G)
c.10489A>G (p.Lys3497Glu)
n.4418A>G
c.10618A>G (p.Lys3540Glu)
2g.73572492A>TCA347284181ALMS1c.10234A>T (p.Lys3412Ter)
c.3320A>T
c.7515A>T
c.4681A>T (p.Lys1561Ter)
c.7560A>T
c.10615A>T (p.Lys3539Ter)
c.769A>T (p.Lys257Ter)
c.1971A>T
c.3A>T
c.1712A>T
c.4106A>T (n.4106A>T)
c.10489A>T (p.Lys3497Ter)
n.4418A>T
c.10618A>T (p.Lys3540Ter)
2g.73572493A=CA1261021236ALMS1c.10235A= (p.Lys3412=)
c.3321A=
c.7516A=
c.4682A= (p.Lys1561=)
c.7561A=
c.10616A= (p.Lys3539=)
c.770A= (p.Lys257=)
c.1972A=
c.4A=
c.1713A=
c.4107A= (n.4107A=)
c.10490A= (p.Lys3497=)
n.4419A=
c.10619A= (p.Lys3540=)
2g.73572493A>CCA347284189ALMS1c.10235A>C (p.Lys3412Thr)
c.3321A>C
c.7516A>C
c.4682A>C (p.Lys1561Thr)
c.7561A>C
c.10616A>C (p.Lys3539Thr)
c.770A>C (p.Lys257Thr)
c.1972A>C
c.4A>C
c.1713A>C
c.4107A>C (n.4107A>C)
c.10490A>C (p.Lys3497Thr)
n.4419A>C
c.10619A>C (p.Lys3540Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572493A>GCA347284194ALMS1c.10235A>G (p.Lys3412Arg)
c.3321A>G
c.7516A>G
c.4682A>G (p.Lys1561Arg)
c.7561A>G
c.10616A>G (p.Lys3539Arg)
c.770A>G (p.Lys257Arg)
c.1972A>G
c.4A>G
c.1713A>G
c.4107A>G (n.4107A>G)
c.10490A>G (p.Lys3497Arg)
n.4419A>G
c.10619A>G (p.Lys3540Arg)
 gnomAD v4
2g.73572493A>TCA347284198ALMS1c.10235A>T (p.Lys3412Met)
c.3321A>T
c.7516A>T
c.4682A>T (p.Lys1561Met)
c.7561A>T
c.10616A>T (p.Lys3539Met)
c.770A>T (p.Lys257Met)
c.1972A>T
c.4A>T
c.1713A>T
c.4107A>T (n.4107A>T)
c.10490A>T (p.Lys3497Met)
n.4419A>T
c.10619A>T (p.Lys3540Met)
2g.73572496_73572499delCA2499216271ALMS1c.10238_10241del (p.Thr3413IlefsTer5)
c.3324_3327del
c.7519_7522del
c.4685_4688del (p.Thr1562IlefsTer5)
c.7564_7567del
c.10619_10622del (p.Thr3540IlefsTer5)
c.773_776del (p.Thr258IlefsTer5)
c.1975_1978del
c.7_10del
c.1716_1719del
c.4110_4113del (n.4110_4113del)
c.10493_10496del (p.Thr3498IlefsTer5)
n.4422_4425del
c.10622_10625del (p.Thr3541IlefsTer5)
 ClinVar dbSNP gnomAD v4
2g.73572494G>ACA427024015ALMS1c.10236G>A (p.Lys3412=)
c.3322G>A
c.7517G>A
c.4683G>A (p.Lys1561=)
c.7562G>A
c.10617G>A (p.Lys3539=)
c.771G>A (p.Lys257=)
c.1973G>A
c.5G>A
c.1714G>A
c.4108G>A (n.4108G>A)
c.10491G>A (p.Lys3497=)
n.4420G>A
c.10620G>A (p.Lys3540=)
2g.73572494G>CCA347284201ALMS1c.10236G>C (p.Lys3412Asn)
c.3322G>C
c.7517G>C
c.4683G>C (p.Lys1561Asn)
c.7562G>C
c.10617G>C (p.Lys3539Asn)
c.771G>C (p.Lys257Asn)
c.1973G>C
c.5G>C
c.1714G>C
c.4108G>C (n.4108G>C)
c.10491G>C (p.Lys3497Asn)
n.4420G>C
c.10620G>C (p.Lys3540Asn)
2g.73572494G>TCA347284207ALMS1c.10236G>T (p.Lys3412Asn)
c.3322G>T
c.7517G>T
c.4683G>T (p.Lys1561Asn)
c.7562G>T
c.10617G>T (p.Lys3539Asn)
c.771G>T (p.Lys257Asn)
c.1973G>T
c.5G>T
c.1714G>T
c.4108G>T (n.4108G>T)
c.10491G>T (p.Lys3497Asn)
n.4420G>T
c.10620G>T (p.Lys3540Asn)
2g.73572495A>CCA347284211ALMS1c.10237A>C (p.Thr3413Pro)
c.3323A>C
c.7518A>C
c.4684A>C (p.Thr1562Pro)
c.7563A>C
c.10618A>C (p.Thr3540Pro)
c.772A>C (p.Thr258Pro)
c.1974A>C
c.6A>C
c.1715A>C
c.4109A>C (n.4109A>C)
c.10492A>C (p.Thr3498Pro)
n.4421A>C
c.10621A>C (p.Thr3541Pro)
2g.73572495A>GCA347284213ALMS1c.10237A>G (p.Thr3413Ala)
c.3323A>G
c.7518A>G
c.4684A>G (p.Thr1562Ala)
c.7563A>G
c.10618A>G (p.Thr3540Ala)
c.772A>G (p.Thr258Ala)
c.1974A>G
c.6A>G
c.1715A>G
c.4109A>G (n.4109A>G)
c.10492A>G (p.Thr3498Ala)
n.4421A>G
c.10621A>G (p.Thr3541Ala)
 gnomAD v4
2g.73572495A>TCA347284217ALMS1c.10237A>T (p.Thr3413Ser)
c.3323A>T
c.7518A>T
c.4684A>T (p.Thr1562Ser)
c.7563A>T
c.10618A>T (p.Thr3540Ser)
c.772A>T (p.Thr258Ser)
c.1974A>T
c.6A>T
c.1715A>T
c.4109A>T (n.4109A>T)
c.10492A>T (p.Thr3498Ser)
n.4421A>T
c.10621A>T (p.Thr3541Ser)
2g.73572495_73572496insACCCA2750467769ALMS1c.10237_10238insACC (p.Thr3413delinsAsnPro)
c.3323_3324insACC
c.7518_7519insACC
c.4684_4685insACC (p.Thr1562delinsAsnPro)
c.7563_7564insACC
c.10618_10619insACC (p.Thr3540delinsAsnPro)
c.772_773insACC (p.Thr258delinsAsnPro)
c.1974_1975insACC
c.6_7insACC
c.1715_1716insACC
c.4109_4110insACC (n.4109_4110insACC)
c.10492_10493insACC (p.Thr3498delinsAsnPro)
n.4421_4422insACC
c.10621_10622insACC (p.Thr3541delinsAsnPro)
2g.73572496C>ACA347284220ALMS1c.10238C>A (p.Thr3413Lys)
c.3324C>A
c.7519C>A
c.4685C>A (p.Thr1562Lys)
c.7564C>A
c.10619C>A (p.Thr3540Lys)
c.773C>A (p.Thr258Lys)
c.1975C>A
c.7C>A
c.1716C>A
c.4110C>A (n.4110C>A)
c.10493C>A (p.Thr3498Lys)
n.4422C>A
c.10622C>A (p.Thr3541Lys)
2g.73572496C>GCA347284221ALMS1c.10238C>G (p.Thr3413Arg)
c.3324C>G
c.7519C>G
c.4685C>G (p.Thr1562Arg)
c.7564C>G
c.10619C>G (p.Thr3540Arg)
c.773C>G (p.Thr258Arg)
c.1975C>G
c.7C>G
c.1716C>G
c.4110C>G (n.4110C>G)
c.10493C>G (p.Thr3498Arg)
n.4422C>G
c.10622C>G (p.Thr3541Arg)
2g.73572496C>TCA347284223ALMS1c.10238C>T (p.Thr3413Ile)
c.3324C>T
c.7519C>T
c.4685C>T (p.Thr1562Ile)
c.7564C>T
c.10619C>T (p.Thr3540Ile)
c.773C>T (p.Thr258Ile)
c.1975C>T
c.7C>T
c.1716C>T
c.4110C>T (n.4110C>T)
c.10493C>T (p.Thr3498Ile)
n.4422C>T
c.10622C>T (p.Thr3541Ile)
2g.73572497A>CCA427024029ALMS1c.10239A>C (p.Thr3413=)
c.3325A>C
c.7520A>C
c.4686A>C (p.Thr1562=)
c.7565A>C
c.10620A>C (p.Thr3540=)
c.774A>C (p.Thr258=)
c.1976A>C
c.8A>C
c.1717A>C
c.4111A>C (n.4111A>C)
c.10494A>C (p.Thr3498=)
n.4423A>C
c.10623A>C (p.Thr3541=)
2g.73572497A>GCA427024026ALMS1c.10239A>G (p.Thr3413=)
c.3325A>G
c.7520A>G
c.4686A>G (p.Thr1562=)
c.7565A>G
c.10620A>G (p.Thr3540=)
c.774A>G (p.Thr258=)
c.1976A>G
c.8A>G
c.1717A>G
c.4111A>G (n.4111A>G)
c.10494A>G (p.Thr3498=)
n.4423A>G
c.10623A>G (p.Thr3541=)
 ClinVar dbSNP
2g.73572497A>TCA427024027ALMS1c.10239A>T (p.Thr3413=)
c.3325A>T
c.7520A>T
c.4686A>T (p.Thr1562=)
c.7565A>T
c.10620A>T (p.Thr3540=)
c.774A>T (p.Thr258=)
c.1976A>T
c.8A>T
c.1717A>T
c.4111A>T (n.4111A>T)
c.10494A>T (p.Thr3498=)
n.4423A>T
c.10623A>T (p.Thr3541=)
2g.73572498G>ACA347284235ALMS1c.10240G>A (p.Asp3414Asn)
c.3326G>A
c.7521G>A
c.4687G>A (p.Asp1563Asn)
c.7566G>A
c.10621G>A (p.Asp3541Asn)
c.775G>A (p.Asp259Asn)
c.1977G>A
c.9G>A
c.1718G>A
c.4112G>A (n.4112G>A)
c.10495G>A (p.Asp3499Asn)
n.4424G>A
c.10624G>A (p.Asp3542Asn)
 ClinVar dbSNP
2g.73572498G>CCA347284232ALMS1c.10240G>C (p.Asp3414His)
c.3326G>C
c.7521G>C
c.4687G>C (p.Asp1563His)
c.7566G>C
c.10621G>C (p.Asp3541His)
c.775G>C (p.Asp259His)
c.1977G>C
c.9G>C
c.1718G>C
c.4112G>C (n.4112G>C)
c.10495G>C (p.Asp3499His)
n.4424G>C
c.10624G>C (p.Asp3542His)
2g.73572498G=CA1261021237ALMS1c.10240G= (p.Asp3414=)
c.3326G=
c.7521G=
c.4687G= (p.Asp1563=)
c.7566G=
c.10621G= (p.Asp3541=)
c.775G= (p.Asp259=)
c.1977G=
c.9G=
c.1718G=
c.4112G= (n.4112G=)
c.10495G= (p.Asp3499=)
n.4424G=
c.10624G= (p.Asp3542=)
2g.73572498G>TCA347284229ALMS1c.10240G>T (p.Asp3414Tyr)
c.3326G>T
c.7521G>T
c.4687G>T (p.Asp1563Tyr)
c.7566G>T
c.10621G>T (p.Asp3541Tyr)
c.775G>T (p.Asp259Tyr)
c.1977G>T
c.9G>T
c.1718G>T
c.4112G>T (n.4112G>T)
c.10495G>T (p.Asp3499Tyr)
n.4424G>T
c.10624G>T (p.Asp3542Tyr)
2g.73572499A=CA1261021238ALMS1c.10241A= (p.Asp3414=)
c.3327A=
c.7522A=
c.4688A= (p.Asp1563=)
c.7567A=
c.10622A= (p.Asp3541=)
c.776A= (p.Asp259=)
c.1978A=
c.10A=
c.1719A=
c.4113A= (n.4113A=)
c.10496A= (p.Asp3499=)
n.4425A=
c.10625A= (p.Asp3542=)
2g.73572499A>CCA347284239ALMS1c.10241A>C (p.Asp3414Ala)
c.3327A>C
c.7522A>C
c.4688A>C (p.Asp1563Ala)
c.7567A>C
c.10622A>C (p.Asp3541Ala)
c.776A>C (p.Asp259Ala)
c.1978A>C
c.10A>C
c.1719A>C
c.4113A>C (n.4113A>C)
c.10496A>C (p.Asp3499Ala)
n.4425A>C
c.10625A>C (p.Asp3542Ala)
2g.73572499A>GCA347284244ALMS1c.10241A>G (p.Asp3414Gly)
c.3327A>G
c.7522A>G
c.4688A>G (p.Asp1563Gly)
c.7567A>G
c.10622A>G (p.Asp3541Gly)
c.776A>G (p.Asp259Gly)
c.1978A>G
c.10A>G
c.1719A>G
c.4113A>G (n.4113A>G)
c.10496A>G (p.Asp3499Gly)
n.4425A>G
c.10625A>G (p.Asp3542Gly)
2g.73572499A>TCA347284243ALMS1c.10241A>T (p.Asp3414Val)
c.3327A>T
c.7522A>T
c.4688A>T (p.Asp1563Val)
c.7567A>T
c.10622A>T (p.Asp3541Val)
c.776A>T (p.Asp259Val)
c.1978A>T
c.10A>T
c.1719A>T
c.4113A>T (n.4113A>T)
c.10496A>T (p.Asp3499Val)
n.4425A>T
c.10625A>T (p.Asp3542Val)
2g.73572499_73572500insACGGGCA534123606ALMS1c.10241_10242insACGGG (p.Asp3414GlufsTer7)
c.3327_3328insACGGG
c.7522_7523insACGGG
c.4688_4689insACGGG (p.Asp1563GlufsTer7)
c.7567_7568insACGGG
c.10622_10623insACGGG (p.Asp3541GlufsTer7)
c.776_777insACGGG (p.Asp259GlufsTer7)
c.1978_1979insACGGG
c.10_11insACGGG
c.1719_1720insACGGG
c.4113_4114insACGGG (n.4113_4114insACGGG)
c.10496_10497insACGGG (p.Asp3499GlufsTer7)
n.4425_4426insACGGG
c.10625_10626insACGGG (p.Asp3542GlufsTer7)
 dbSNP gnomAD v2
2g.73572499_73572500insACGGGTAGTATCA2533181878ALMS1c.10241_10242insACGGGTAGTAT (p.Asp3414GlufsTer9)
c.3327_3328insACGGGTAGTAT
c.7522_7523insACGGGTAGTAT
c.4688_4689insACGGGTAGTAT (p.Asp1563GlufsTer9)
c.7567_7568insACGGGTAGTAT
c.10622_10623insACGGGTAGTAT (p.Asp3541GlufsTer9)
c.776_777insACGGGTAGTAT (p.Asp259GlufsTer9)
c.1978_1979insACGGGTAGTAT
c.10_11insACGGGTAGTAT
c.1719_1720insACGGGTAGTAT
c.4113_4114insACGGGTAGTAT (n.4113_4114insACGGGTAGTAT)
c.10496_10497insACGGGTAGTAT (p.Asp3499GlufsTer9)
n.4425_4426insACGGGTAGTAT
c.10625_10626insACGGGTAGTAT (p.Asp3542GlufsTer9)
2g.73572499_73572500insACGGGTAGTATTCA1261021239ALMS1c.10241_10242insACGGGTAGTATT (p.Asp3414delinsGluArgValValPhe)
c.3327_3328insACGGGTAGTATT
c.7522_7523insACGGGTAGTATT
c.4688_4689insACGGGTAGTATT (p.Asp1563delinsGluArgValValPhe)
c.7567_7568insACGGGTAGTATT
c.10622_10623insACGGGTAGTATT (p.Asp3541delinsGluArgValValPhe)
c.776_777insACGGGTAGTATT (p.Asp259delinsGluArgValValPhe)
c.1978_1979insACGGGTAGTATT
c.10_11insACGGGTAGTATT
c.1719_1720insACGGGTAGTATT
c.4113_4114insACGGGTAGTATT (n.4113_4114insACGGGTAGTATT)
c.10496_10497insACGGGTAGTATT (p.Asp3499delinsGluArgValValPhe)
n.4425_4426insACGGGTAGTATT
c.10625_10626insACGGGTAGTATT (p.Asp3542delinsGluArgValValPhe)
 dbSNP
2g.73572500T>ACA347284249ALMS1c.10242T>A (p.Asp3414Glu)
c.3328T>A
c.7523T>A
c.4689T>A (p.Asp1563Glu)
c.7568T>A
c.10623T>A (p.Asp3541Glu)
c.777T>A (p.Asp259Glu)
c.1979T>A
c.11T>A
c.1720T>A
c.4114T>A (n.4114T>A)
c.10497T>A (p.Asp3499Glu)
n.4426T>A
c.10626T>A (p.Asp3542Glu)
2g.73572500T>CCA427024033ALMS1c.10242T>C (p.Asp3414=)
c.3328T>C
c.7523T>C
c.4689T>C (p.Asp1563=)
c.7568T>C
c.10623T>C (p.Asp3541=)
c.777T>C (p.Asp259=)
c.1979T>C
c.11T>C
c.1720T>C
c.4114T>C (n.4114T>C)
c.10497T>C (p.Asp3499=)
n.4426T>C
c.10626T>C (p.Asp3542=)
2g.73572500T>GCA347284253ALMS1c.10242T>G (p.Asp3414Glu)
c.3328T>G
c.7523T>G
c.4689T>G (p.Asp1563Glu)
c.7568T>G
c.10623T>G (p.Asp3541Glu)
c.777T>G (p.Asp259Glu)
c.1979T>G
c.11T>G
c.1720T>G
c.4114T>G (n.4114T>G)
c.10497T>G (p.Asp3499Glu)
n.4426T>G
c.10626T>G (p.Asp3542Glu)
2g.73572501T>ACA347284258ALMS1c.10243T>A (p.Tyr3415Asn)
c.3329T>A
c.7524T>A
c.4690T>A (p.Tyr1564Asn)
c.7569T>A
c.10624T>A (p.Tyr3542Asn)
c.778T>A (p.Tyr260Asn)
c.1980T>A
c.12T>A
c.1721T>A
c.4115T>A (n.4115T>A)
c.10498T>A (p.Tyr3500Asn)
n.4427T>A
c.10627T>A (p.Tyr3543Asn)
2g.73572501T>CCA347284261ALMS1c.10243T>C (p.Tyr3415His)
c.3329T>C
c.7524T>C
c.4690T>C (p.Tyr1564His)
c.7569T>C
c.10624T>C (p.Tyr3542His)
c.778T>C (p.Tyr260His)
c.1980T>C
c.12T>C
c.1721T>C
c.4115T>C (n.4115T>C)
c.10498T>C (p.Tyr3500His)
n.4427T>C
c.10627T>C (p.Tyr3543His)
2g.73572501T>GCA347284264ALMS1c.10243T>G (p.Tyr3415Asp)
c.3329T>G
c.7524T>G
c.4690T>G (p.Tyr1564Asp)
c.7569T>G
c.10624T>G (p.Tyr3542Asp)
c.778T>G (p.Tyr260Asp)
c.1980T>G
c.12T>G
c.1721T>G
c.4115T>G (n.4115T>G)
c.10498T>G (p.Tyr3500Asp)
n.4427T>G
c.10627T>G (p.Tyr3543Asp)
 gnomAD v4
2g.73572502A=CA1261021240ALMS1c.10244A= (p.Tyr3415=)
c.3330A=
c.7525A=
c.4691A= (p.Tyr1564=)
c.7570A=
c.10625A= (p.Tyr3542=)
c.779A= (p.Tyr260=)
c.1981A=
c.13A=
c.1722A=
c.4116A= (n.4116A=)
c.10499A= (p.Tyr3500=)
n.4428A=
c.10628A= (p.Tyr3543=)
2g.73572502A>CCA347284268ALMS1c.10244A>C (p.Tyr3415Ser)
c.3330A>C
c.7525A>C
c.4691A>C (p.Tyr1564Ser)
c.7570A>C
c.10625A>C (p.Tyr3542Ser)
c.779A>C (p.Tyr260Ser)
c.1981A>C
c.13A>C
c.1722A>C
c.4116A>C (n.4116A>C)
c.10499A>C (p.Tyr3500Ser)
n.4428A>C
c.10628A>C (p.Tyr3543Ser)
2g.73572502A>GCA1715036ALMS1c.10244A>G (p.Tyr3415Cys)
c.3330A>G
c.7525A>G
c.4691A>G (p.Tyr1564Cys)
c.7570A>G
c.10625A>G (p.Tyr3542Cys)
c.779A>G (p.Tyr260Cys)
c.1981A>G
c.13A>G
c.1722A>G
c.4116A>G (n.4116A>G)
c.10499A>G (p.Tyr3500Cys)
n.4428A>G
c.10628A>G (p.Tyr3543Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572502A>TCA347284273ALMS1c.10244A>T (p.Tyr3415Phe)
c.3330A>T
c.7525A>T
c.4691A>T (p.Tyr1564Phe)
c.7570A>T
c.10625A>T (p.Tyr3542Phe)
c.779A>T (p.Tyr260Phe)
c.1981A>T
c.13A>T
c.1722A>T
c.4116A>T (n.4116A>T)
c.10499A>T (p.Tyr3500Phe)
n.4428A>T
c.10628A>T (p.Tyr3543Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572503T>ACA347284278ALMS1c.10245T>A (p.Tyr3415Ter)
c.3331T>A
c.7526T>A
c.4692T>A (p.Tyr1564Ter)
c.7571T>A
c.10626T>A (p.Tyr3542Ter)
c.780T>A (p.Tyr260Ter)
c.1982T>A
c.14T>A
c.1723T>A
c.4117T>A (n.4117T>A)
c.10500T>A (p.Tyr3500Ter)
n.4429T>A
c.10629T>A (p.Tyr3543Ter)
2g.73572503T>CCA427024040ALMS1c.10245T>C (p.Tyr3415=)
c.3331T>C
c.7526T>C
c.4692T>C (p.Tyr1564=)
c.7571T>C
c.10626T>C (p.Tyr3542=)
c.780T>C (p.Tyr260=)
c.1982T>C
c.14T>C
c.1723T>C
c.4117T>C (n.4117T>C)
c.10500T>C (p.Tyr3500=)
n.4429T>C
c.10629T>C (p.Tyr3543=)
2g.73572503T>GCA347284281ALMS1c.10245T>G (p.Tyr3415Ter)
c.3331T>G
c.7526T>G
c.4692T>G (p.Tyr1564Ter)
c.7571T>G
c.10626T>G (p.Tyr3542Ter)
c.780T>G (p.Tyr260Ter)
c.1982T>G
c.14T>G
c.1723T>G
c.4117T>G (n.4117T>G)
c.10500T>G (p.Tyr3500Ter)
n.4429T>G
c.10629T>G (p.Tyr3543Ter)
2g.73572504A>CCA347284285ALMS1c.10246A>C (p.Thr3416Pro)
c.3332A>C
c.7527A>C
c.4693A>C (p.Thr1565Pro)
c.7572A>C
c.10627A>C (p.Thr3543Pro)
c.781A>C (p.Thr261Pro)
c.1983A>C
c.15A>C
c.1724A>C
c.4118A>C (n.4118A>C)
c.10501A>C (p.Thr3501Pro)
n.4430A>C
c.10630A>C (p.Thr3544Pro)
2g.73572504A>GCA347284287ALMS1c.10246A>G (p.Thr3416Ala)
c.3332A>G
c.7527A>G
c.4693A>G (p.Thr1565Ala)
c.7572A>G
c.10627A>G (p.Thr3543Ala)
c.781A>G (p.Thr261Ala)
c.1983A>G
c.15A>G
c.1724A>G
c.4118A>G (n.4118A>G)
c.10501A>G (p.Thr3501Ala)
n.4430A>G
c.10630A>G (p.Thr3544Ala)
 gnomAD v4
2g.73572504A>TCA347284290ALMS1c.10246A>T (p.Thr3416Ser)
c.3332A>T
c.7527A>T
c.4693A>T (p.Thr1565Ser)
c.7572A>T
c.10627A>T (p.Thr3543Ser)
c.781A>T (p.Thr261Ser)
c.1983A>T
c.15A>T
c.1724A>T
c.4118A>T (n.4118A>T)
c.10501A>T (p.Thr3501Ser)
n.4430A>T
c.10630A>T (p.Thr3544Ser)
2g.73572505C>ACA347284293ALMS1c.10247C>A (p.Thr3416Asn)
c.3333C>A
c.7528C>A
c.4694C>A (p.Thr1565Asn)
c.7573C>A
c.10628C>A (p.Thr3543Asn)
c.782C>A (p.Thr261Asn)
c.1984C>A
c.16C>A
c.1725C>A
c.4119C>A (n.4119C>A)
c.10502C>A (p.Thr3501Asn)
n.4431C>A
c.10631C>A (p.Thr3544Asn)
2g.73572505C=CA1261021241ALMS1c.10247C= (p.Thr3416=)
c.3333C=
c.7528C=
c.4694C= (p.Thr1565=)
c.7573C=
c.10628C= (p.Thr3543=)
c.782C= (p.Thr261=)
c.1984C=
c.16C=
c.1725C=
c.4119C= (n.4119C=)
c.10502C= (p.Thr3501=)
n.4431C=
c.10631C= (p.Thr3544=)
2g.73572505C>GCA349169ALMS1c.10247C>G (p.Thr3416Ser)
c.3333C>G
c.7528C>G
c.4694C>G (p.Thr1565Ser)
c.7573C>G
c.10628C>G (p.Thr3543Ser)
c.782C>G (p.Thr261Ser)
c.1984C>G
c.16C>G
c.1725C>G
c.4119C>G (n.4119C>G)
c.10502C>G (p.Thr3501Ser)
n.4431C>G
c.10631C>G (p.Thr3544Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572505C>TCA347284297ALMS1c.10247C>T (p.Thr3416Ile)
c.3333C>T
c.7528C>T
c.4694C>T (p.Thr1565Ile)
c.7573C>T
c.10628C>T (p.Thr3543Ile)
c.782C>T (p.Thr261Ile)
c.1984C>T
c.16C>T
c.1725C>T
c.4119C>T (n.4119C>T)
c.10502C>T (p.Thr3501Ile)
n.4431C>T
c.10631C>T (p.Thr3544Ile)
2g.73572506C>ACA427024046ALMS1c.10248C>A (p.Thr3416=)
c.3334C>A
c.7529C>A
c.4695C>A (p.Thr1565=)
c.7574C>A
c.10629C>A (p.Thr3543=)
c.783C>A (p.Thr261=)
c.1985C>A
c.17C>A
c.1726C>A
c.4120C>A (n.4120C>A)
c.10503C>A (p.Thr3501=)
n.4432C>A
c.10632C>A (p.Thr3544=)
2g.73572506C=CA1261021242ALMS1c.10248C= (p.Thr3416=)
c.3334C=
c.7529C=
c.4695C= (p.Thr1565=)
c.7574C=
c.10629C= (p.Thr3543=)
c.783C= (p.Thr261=)
c.1985C=
c.17C=
c.1726C=
c.4120C= (n.4120C=)
c.10503C= (p.Thr3501=)
n.4432C=
c.10632C= (p.Thr3544=)
2g.73572506C>GCA427024047ALMS1c.10248C>G (p.Thr3416=)
c.3334C>G
c.7529C>G
c.4695C>G (p.Thr1565=)
c.7574C>G
c.10629C>G (p.Thr3543=)
c.783C>G (p.Thr261=)
c.1985C>G
c.17C>G
c.1726C>G
c.4120C>G (n.4120C>G)
c.10503C>G (p.Thr3501=)
n.4432C>G
c.10632C>G (p.Thr3544=)
 ClinVar dbSNP gnomAD v4
2g.73572506C>TCA427024048ALMS1c.10248C>T (p.Thr3416=)
c.3334C>T
c.7529C>T
c.4695C>T (p.Thr1565=)
c.7574C>T
c.10629C>T (p.Thr3543=)
c.783C>T (p.Thr261=)
c.1985C>T
c.17C>T
c.1726C>T
c.4120C>T (n.4120C>T)
c.10503C>T (p.Thr3501=)
n.4432C>T
c.10632C>T (p.Thr3544=)
 gnomAD v4
2g.73572507A=CA1261021243ALMS1c.10249A= (p.Arg3417=)
c.3335A=
c.7530A=
c.4696A= (p.Arg1566=)
c.7575A=
c.10630A= (p.Arg3544=)
c.784A= (p.Arg262=)
c.1986A=
c.18A=
c.1727A=
c.4121A= (n.4121A=)
c.10504A= (p.Arg3502=)
n.4433A=
c.10633A= (p.Arg3545=)
2g.73572507A>CCA427024051ALMS1c.10249A>C (p.Arg3417=)
c.3335A>C
c.7530A>C
c.4696A>C (p.Arg1566=)
c.7575A>C
c.10630A>C (p.Arg3544=)
c.784A>C (p.Arg262=)
c.1986A>C
c.18A>C
c.1727A>C
c.4121A>C (n.4121A>C)
c.10504A>C (p.Arg3502=)
n.4433A>C
c.10633A>C (p.Arg3545=)
2g.73572507A>GCA1715037ALMS1c.10249A>G (p.Arg3417Gly)
c.3335A>G
c.7530A>G
c.4696A>G (p.Arg1566Gly)
c.7575A>G
c.10630A>G (p.Arg3544Gly)
c.784A>G (p.Arg262Gly)
c.1986A>G
c.18A>G
c.1727A>G
c.4121A>G (n.4121A>G)
c.10504A>G (p.Arg3502Gly)
n.4433A>G
c.10633A>G (p.Arg3545Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572507A>TCA347284304ALMS1c.10249A>T (p.Arg3417Ter)
c.3335A>T
c.7530A>T
c.4696A>T (p.Arg1566Ter)
c.7575A>T
c.10630A>T (p.Arg3544Ter)
c.784A>T (p.Arg262Ter)
c.1986A>T
c.18A>T
c.1727A>T
c.4121A>T (n.4121A>T)
c.10504A>T (p.Arg3502Ter)
n.4433A>T
c.10633A>T (p.Arg3545Ter)
2g.73572508G>ACA347284309ALMS1c.10250G>A (p.Arg3417Lys)
c.3336G>A
c.7531G>A
c.4697G>A (p.Arg1566Lys)
c.7576G>A
c.10631G>A (p.Arg3544Lys)
c.785G>A (p.Arg262Lys)
c.1987G>A
c.19G>A
c.1728G>A
c.4122G>A (n.4122G>A)
c.10505G>A (p.Arg3502Lys)
n.4434G>A
c.10634G>A (p.Arg3545Lys)
2g.73572508G>CCA347284311ALMS1c.10250G>C (p.Arg3417Thr)
c.3336G>C
c.7531G>C
c.4697G>C (p.Arg1566Thr)
c.7576G>C
c.10631G>C (p.Arg3544Thr)
c.785G>C (p.Arg262Thr)
c.1987G>C
c.19G>C
c.1728G>C
c.4122G>C (n.4122G>C)
c.10505G>C (p.Arg3502Thr)
n.4434G>C
c.10634G>C (p.Arg3545Thr)
2g.73572508G>TCA347284322ALMS1c.10250G>T (p.Arg3417Ile)
c.3336G>T
c.7531G>T
c.4697G>T (p.Arg1566Ile)
c.7576G>T
c.10631G>T (p.Arg3544Ile)
c.785G>T (p.Arg262Ile)
c.1987G>T
c.19G>T
c.1728G>T
c.4122G>T (n.4122G>T)
c.10505G>T (p.Arg3502Ile)
n.4434G>T
c.10634G>T (p.Arg3545Ile)
2g.73572509A>CCA347284324ALMS1c.10251A>C (p.Arg3417Ser)
c.3337A>C
c.7532A>C
c.4698A>C (p.Arg1566Ser)
c.7577A>C
c.10632A>C (p.Arg3544Ser)
c.786A>C (p.Arg262Ser)
c.1988A>C
c.20A>C
c.1729A>C
c.4123A>C (n.4123A>C)
c.10506A>C (p.Arg3502Ser)
n.4435A>C
c.10635A>C (p.Arg3545Ser)
2g.73572509A>GCA427024056ALMS1c.10251A>G (p.Arg3417=)
c.3337A>G
c.7532A>G
c.4698A>G (p.Arg1566=)
c.7577A>G
c.10632A>G (p.Arg3544=)
c.786A>G (p.Arg262=)
c.1988A>G
c.20A>G
c.1729A>G
c.4123A>G (n.4123A>G)
c.10506A>G (p.Arg3502=)
n.4435A>G
c.10635A>G (p.Arg3545=)
 ClinVar
2g.73572509A>TCA347284326ALMS1c.10251A>T (p.Arg3417Ser)
c.3337A>T
c.7532A>T
c.4698A>T (p.Arg1566Ser)
c.7577A>T
c.10632A>T (p.Arg3544Ser)
c.786A>T (p.Arg262Ser)
c.1988A>T
c.20A>T
c.1729A>T
c.4123A>T (n.4123A>T)
c.10506A>T (p.Arg3502Ser)
n.4435A>T
c.10635A>T (p.Arg3545Ser)
2g.73572510A>CCA347284329ALMS1c.10252A>C (p.Ile3418Leu)
c.3338A>C
c.7533A>C
c.4699A>C (p.Ile1567Leu)
c.7578A>C
c.10633A>C (p.Ile3545Leu)
c.787A>C (p.Ile263Leu)
c.1989A>C
c.21A>C
c.1730A>C
c.4124A>C (n.4124A>C)
c.10507A>C (p.Ile3503Leu)
n.4436A>C
c.10636A>C (p.Ile3546Leu)
2g.73572510A>GCA347284332ALMS1c.10252A>G (p.Ile3418Val)
c.3338A>G
c.7533A>G
c.4699A>G (p.Ile1567Val)
c.7578A>G
c.10633A>G (p.Ile3545Val)
c.787A>G (p.Ile263Val)
c.1989A>G
c.21A>G
c.1730A>G
c.4124A>G (n.4124A>G)
c.10507A>G (p.Ile3503Val)
n.4436A>G
c.10636A>G (p.Ile3546Val)
2g.73572510A>TCA347284336ALMS1c.10252A>T (p.Ile3418Leu)
c.3338A>T
c.7533A>T
c.4699A>T (p.Ile1567Leu)
c.7578A>T
c.10633A>T (p.Ile3545Leu)
c.787A>T (p.Ile263Leu)
c.1989A>T
c.21A>T
c.1730A>T
c.4124A>T (n.4124A>T)
c.10507A>T (p.Ile3503Leu)
n.4436A>T
c.10636A>T (p.Ile3546Leu)
2g.73572511T>ACA347284358ALMS1c.10253T>A (p.Ile3418Lys)
c.3339T>A
c.7534T>A
c.4700T>A (p.Ile1567Lys)
c.7579T>A
c.10634T>A (p.Ile3545Lys)
c.788T>A (p.Ile263Lys)
c.1990T>A
c.22T>A
c.1731T>A
c.4125T>A (n.4125T>A)
c.10508T>A (p.Ile3503Lys)
n.4437T>A
c.10637T>A (p.Ile3546Lys)
2g.73572511T>CCA347284354ALMS1c.10253T>C (p.Ile3418Thr)
c.3339T>C
c.7534T>C
c.4700T>C (p.Ile1567Thr)
c.7579T>C
c.10634T>C (p.Ile3545Thr)
c.788T>C (p.Ile263Thr)
c.1990T>C
c.22T>C
c.1731T>C
c.4125T>C (n.4125T>C)
c.10508T>C (p.Ile3503Thr)
n.4437T>C
c.10637T>C (p.Ile3546Thr)
2g.73572511T>GCA347284340ALMS1c.10253T>G (p.Ile3418Arg)
c.3339T>G
c.7534T>G
c.4700T>G (p.Ile1567Arg)
c.7579T>G
c.10634T>G (p.Ile3545Arg)
c.788T>G (p.Ile263Arg)
c.1990T>G
c.22T>G
c.1731T>G
c.4125T>G (n.4125T>G)
c.10508T>G (p.Ile3503Arg)
n.4437T>G
c.10637T>G (p.Ile3546Arg)
2g.73572512A=CA1261021244ALMS1c.10254A= (p.Ile3418=)
c.3340A=
c.7535A=
c.4701A= (p.Ile1567=)
c.7580A=
c.10635A= (p.Ile3545=)
c.789A= (p.Ile263=)
c.1991A=
c.23A=
c.1732A=
c.4126A= (n.4126A=)
c.10509A= (p.Ile3503=)
n.4438A=
c.10638A= (p.Ile3546=)
2g.73572512A>CCA427024059ALMS1c.10254A>C (p.Ile3418=)
c.3340A>C
c.7535A>C
c.4701A>C (p.Ile1567=)
c.7580A>C
c.10635A>C (p.Ile3545=)
c.789A>C (p.Ile263=)
c.1991A>C
c.23A>C
c.1732A>C
c.4126A>C (n.4126A>C)
c.10509A>C (p.Ile3503=)
n.4438A>C
c.10638A>C (p.Ile3546=)
2g.73572512A>GCA1715038ALMS1c.10254A>G (p.Ile3418Met)
c.3340A>G
c.7535A>G
c.4701A>G (p.Ile1567Met)
c.7580A>G
c.10635A>G (p.Ile3545Met)
c.789A>G (p.Ile263Met)
c.1991A>G
c.23A>G
c.1732A>G
c.4126A>G (n.4126A>G)
c.10509A>G (p.Ile3503Met)
n.4438A>G
c.10638A>G (p.Ile3546Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572512A>TCA427024062ALMS1c.10254A>T (p.Ile3418=)
c.3340A>T
c.7535A>T
c.4701A>T (p.Ile1567=)
c.7580A>T
c.10635A>T (p.Ile3545=)
c.789A>T (p.Ile263=)
c.1991A>T
c.23A>T
c.1732A>T
c.4126A>T (n.4126A>T)
c.10509A>T (p.Ile3503=)
n.4438A>T
c.10638A>T (p.Ile3546=)
2g.73572513A=CA1261021245ALMS1c.10255A= (p.Lys3419=)
c.3341A=
c.7536A=
c.4702A= (p.Lys1568=)
c.7581A=
c.10636A= (p.Lys3546=)
c.790A= (p.Lys264=)
c.1992A=
c.24A=
c.1733A=
c.4127A= (n.4127A=)
c.10510A= (p.Lys3504=)
n.4439A=
c.10639A= (p.Lys3547=)
2g.73572513A>CCA347284365ALMS1c.10255A>C (p.Lys3419Gln)
c.3341A>C
c.7536A>C
c.4702A>C (p.Lys1568Gln)
c.7581A>C
c.10636A>C (p.Lys3546Gln)
c.790A>C (p.Lys264Gln)
c.1992A>C
c.24A>C
c.1733A>C
c.4127A>C (n.4127A>C)
c.10510A>C (p.Lys3504Gln)
n.4439A>C
c.10639A>C (p.Lys3547Gln)
2g.73572513A>GCA347284368ALMS1c.10255A>G (p.Lys3419Glu)
c.3341A>G
c.7536A>G
c.4702A>G (p.Lys1568Glu)
c.7581A>G
c.10636A>G (p.Lys3546Glu)
c.790A>G (p.Lys264Glu)
c.1992A>G
c.24A>G
c.1733A>G
c.4127A>G (n.4127A>G)
c.10510A>G (p.Lys3504Glu)
n.4439A>G
c.10639A>G (p.Lys3547Glu)
 dbSNP
2g.73572513A>TCA347284370ALMS1c.10255A>T (p.Lys3419Ter)
c.3341A>T
c.7536A>T
c.4702A>T (p.Lys1568Ter)
c.7581A>T
c.10636A>T (p.Lys3546Ter)
c.790A>T (p.Lys264Ter)
c.1992A>T
c.24A>T
c.1733A>T
c.4127A>T (n.4127A>T)
c.10510A>T (p.Lys3504Ter)
n.4439A>T
c.10639A>T (p.Lys3547Ter)

Number of alleles fetched