Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73572356_73572357delinsTCCA1261020953ALMS1c.10098_10099delinsTC (p.Asp3366=)
c.3184_3185delinsTC
c.7379_7380delinsTC
c.4545_4546delinsTC (p.Asp1515=)
c.7424_7425delinsTC
c.10479_10480delinsTC (p.Asp3493=)
c.633_634delinsTC (p.Asp211=)
c.1835_1836delinsTC
c.1576_1577delinsTC
c.3970_3971delinsTC (n.3970_3971delinsTC)
c.10353_10354delinsTC (p.Asp3451=)
n.4282_4283delinsTC
c.10482_10483delinsTC (p.Asp3494=)
2g.73572357delCA534124624ALMS1c.10099del (p.Gln3367LysfsTer14)
c.3185del
c.7380del
c.4546del (p.Gln1516LysfsTer14)
c.7425del
c.10480del (p.Gln3494LysfsTer14)
c.634del (p.Gln212LysfsTer14)
c.1836del
c.1577del
c.3971del (n.3971del)
c.10354del (p.Gln3452LysfsTer14)
n.4283del
c.10483del (p.Gln3495LysfsTer14)
 dbSNP gnomAD v2 gnomAD v4
2g.73572357C>ACA347283117ALMS1c.10099C>A (p.Gln3367Lys)
c.3185C>A
c.7380C>A
c.4546C>A (p.Gln1516Lys)
c.7425C>A
c.10480C>A (p.Gln3494Lys)
c.634C>A (p.Gln212Lys)
c.1836C>A
c.1577C>A
c.3971C>A (n.3971C>A)
c.10354C>A (p.Gln3452Lys)
n.4283C>A
c.10483C>A (p.Gln3495Lys)
2g.73572357C=CA1261020963ALMS1c.10099C= (p.Gln3367=)
c.3185C=
c.7380C=
c.4546C= (p.Gln1516=)
c.7425C=
c.10480C= (p.Gln3494=)
c.634C= (p.Gln212=)
c.1836C=
c.1577C=
c.3971C= (n.3971C=)
c.10354C= (p.Gln3452=)
n.4283C=
c.10483C= (p.Gln3495=)
2g.73572357C>GCA1715010ALMS1c.10099C>G (p.Gln3367Glu)
c.3185C>G
c.7380C>G
c.4546C>G (p.Gln1516Glu)
c.7425C>G
c.10480C>G (p.Gln3494Glu)
c.634C>G (p.Gln212Glu)
c.1836C>G
c.1577C>G
c.3971C>G (n.3971C>G)
c.10354C>G (p.Gln3452Glu)
n.4283C>G
c.10483C>G (p.Gln3495Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572357C>TCA277038ALMS1c.10099C>T (p.Gln3367Ter)
c.3185C>T
c.7380C>T
c.4546C>T (p.Gln1516Ter)
c.7425C>T
c.10480C>T (p.Gln3494Ter)
c.634C>T (p.Gln212Ter)
c.1836C>T
c.1577C>T
c.3971C>T (n.3971C>T)
c.10354C>T (p.Gln3452Ter)
n.4283C>T
c.10483C>T (p.Gln3495Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572358A=CA1261020972ALMS1c.10100A= (p.Gln3367=)
c.3186A=
c.7381A=
c.4547A= (p.Gln1516=)
c.7426A=
c.10481A= (p.Gln3494=)
c.635A= (p.Gln212=)
c.1837A=
c.1578A=
c.3972A= (n.3972A=)
c.10355A= (p.Gln3452=)
n.4284A=
c.10484A= (p.Gln3495=)
2g.73572358A>CCA347283123ALMS1c.10100A>C (p.Gln3367Pro)
c.3186A>C
c.7381A>C
c.4547A>C (p.Gln1516Pro)
c.7426A>C
c.10481A>C (p.Gln3494Pro)
c.635A>C (p.Gln212Pro)
c.1837A>C
c.1578A>C
c.3972A>C (n.3972A>C)
c.10355A>C (p.Gln3452Pro)
n.4284A>C
c.10484A>C (p.Gln3495Pro)
 gnomAD v4
2g.73572358A>GCA347283125ALMS1c.10100A>G (p.Gln3367Arg)
c.3186A>G
c.7381A>G
c.4547A>G (p.Gln1516Arg)
c.7426A>G
c.10481A>G (p.Gln3494Arg)
c.635A>G (p.Gln212Arg)
c.1837A>G
c.1578A>G
c.3972A>G (n.3972A>G)
c.10355A>G (p.Gln3452Arg)
n.4284A>G
c.10484A>G (p.Gln3495Arg)
 ClinVar dbSNP gnomAD v4
2g.73572358A>TCA347283126ALMS1c.10100A>T (p.Gln3367Leu)
c.3186A>T
c.7381A>T
c.4547A>T (p.Gln1516Leu)
c.7426A>T
c.10481A>T (p.Gln3494Leu)
c.635A>T (p.Gln212Leu)
c.1837A>T
c.1578A>T
c.3972A>T (n.3972A>T)
c.10355A>T (p.Gln3452Leu)
n.4284A>T
c.10484A>T (p.Gln3495Leu)
2g.73572359A>CCA347283131ALMS1c.10101A>C (p.Gln3367His)
c.3187A>C
c.7382A>C
c.4548A>C (p.Gln1516His)
c.7427A>C
c.10482A>C (p.Gln3494His)
c.636A>C (p.Gln212His)
c.1838A>C
c.1579A>C
c.3973A>C (n.3973A>C)
c.10356A>C (p.Gln3452His)
n.4285A>C
c.10485A>C (p.Gln3495His)
2g.73572359A>GCA427024457ALMS1c.10101A>G (p.Gln3367=)
c.3187A>G
c.7382A>G
c.4548A>G (p.Gln1516=)
c.7427A>G
c.10482A>G (p.Gln3494=)
c.636A>G (p.Gln212=)
c.1838A>G
c.1579A>G
c.3973A>G (n.3973A>G)
c.10356A>G (p.Gln3452=)
n.4285A>G
c.10485A>G (p.Gln3495=)
 ClinVar dbSNP
2g.73572359A>TCA347283129ALMS1c.10101A>T (p.Gln3367His)
c.3187A>T
c.7382A>T
c.4548A>T (p.Gln1516His)
c.7427A>T
c.10482A>T (p.Gln3494His)
c.636A>T (p.Gln212His)
c.1838A>T
c.1579A>T
c.3973A>T (n.3973A>T)
c.10356A>T (p.Gln3452His)
n.4285A>T
c.10485A>T (p.Gln3495His)
2g.73572360G>ACA347283134ALMS1c.10102G>A (p.Asp3368Asn)
c.3188G>A
c.7383G>A
c.4549G>A (p.Asp1517Asn)
c.7428G>A
c.10483G>A (p.Asp3495Asn)
c.637G>A (p.Asp213Asn)
c.1839G>A
c.1580G>A
c.3974G>A (n.3974G>A)
c.10357G>A (p.Asp3453Asn)
n.4286G>A
c.10486G>A (p.Asp3496Asn)
 ClinVar dbSNP gnomAD v4
2g.73572360G>CCA50386177ALMS1c.10102G>C (p.Asp3368His)
c.3188G>C
c.7383G>C
c.4549G>C (p.Asp1517His)
c.7428G>C
c.10483G>C (p.Asp3495His)
c.637G>C (p.Asp213His)
c.1839G>C
c.1580G>C
c.3974G>C (n.3974G>C)
c.10357G>C (p.Asp3453His)
n.4286G>C
c.10486G>C (p.Asp3496His)
 dbSNP gnomAD v3 gnomAD v4
2g.73572360G=CA1261020974ALMS1c.10102G= (p.Asp3368=)
c.3188G=
c.7383G=
c.4549G= (p.Asp1517=)
c.7428G=
c.10483G= (p.Asp3495=)
c.637G= (p.Asp213=)
c.1839G=
c.1580G=
c.3974G= (n.3974G=)
c.10357G= (p.Asp3453=)
n.4286G=
c.10486G= (p.Asp3496=)
2g.73572360G>TCA347283136ALMS1c.10102G>T (p.Asp3368Tyr)
c.3188G>T
c.7383G>T
c.4549G>T (p.Asp1517Tyr)
c.7428G>T
c.10483G>T (p.Asp3495Tyr)
c.637G>T (p.Asp213Tyr)
c.1839G>T
c.1580G>T
c.3974G>T (n.3974G>T)
c.10357G>T (p.Asp3453Tyr)
n.4286G>T
c.10486G>T (p.Asp3496Tyr)
2g.73572361A=CA1261020977ALMS1c.10103A= (p.Asp3368=)
c.3189A=
c.7384A=
c.4550A= (p.Asp1517=)
c.7429A=
c.10484A= (p.Asp3495=)
c.638A= (p.Asp213=)
c.1840A=
c.1581A=
c.3975A= (n.3975A=)
c.10358A= (p.Asp3453=)
n.4287A=
c.10487A= (p.Asp3496=)
2g.73572361A>CCA347283139ALMS1c.10103A>C (p.Asp3368Ala)
c.3189A>C
c.7384A>C
c.4550A>C (p.Asp1517Ala)
c.7429A>C
c.10484A>C (p.Asp3495Ala)
c.638A>C (p.Asp213Ala)
c.1840A>C
c.1581A>C
c.3975A>C (n.3975A>C)
c.10358A>C (p.Asp3453Ala)
n.4287A>C
c.10487A>C (p.Asp3496Ala)
2g.73572361A>GCA1715012ALMS1c.10103A>G (p.Asp3368Gly)
c.3189A>G
c.7384A>G
c.4550A>G (p.Asp1517Gly)
c.7429A>G
c.10484A>G (p.Asp3495Gly)
c.638A>G (p.Asp213Gly)
c.1840A>G
c.1581A>G
c.3975A>G (n.3975A>G)
c.10358A>G (p.Asp3453Gly)
n.4287A>G
c.10487A>G (p.Asp3496Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572361A>TCA1715011ALMS1c.10103A>T (p.Asp3368Val)
c.3189A>T
c.7384A>T
c.4550A>T (p.Asp1517Val)
c.7429A>T
c.10484A>T (p.Asp3495Val)
c.638A>T (p.Asp213Val)
c.1840A>T
c.1581A>T
c.3975A>T (n.3975A>T)
c.10358A>T (p.Asp3453Val)
n.4287A>T
c.10487A>T (p.Asp3496Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572362T>ACA347283146ALMS1c.10104T>A (p.Asp3368Glu)
c.3190T>A
c.7385T>A
c.4551T>A (p.Asp1517Glu)
c.7430T>A
c.10485T>A (p.Asp3495Glu)
c.639T>A (p.Asp213Glu)
c.1841T>A
c.1582T>A
c.3976T>A (n.3976T>A)
c.10359T>A (p.Asp3453Glu)
n.4288T>A
c.10488T>A (p.Asp3496Glu)
 gnomAD v4
2g.73572362T>CCA1715013ALMS1c.10104T>C (p.Asp3368=)
c.3190T>C
c.7385T>C
c.4551T>C (p.Asp1517=)
c.7430T>C
c.10485T>C (p.Asp3495=)
c.639T>C (p.Asp213=)
c.1841T>C
c.1582T>C
c.3976T>C (n.3976T>C)
c.10359T>C (p.Asp3453=)
n.4288T>C
c.10488T>C (p.Asp3496=)
 ClinVar dbSNP ExAC gnomAD v2
2g.73572362T>GCA347283148ALMS1c.10104T>G (p.Asp3368Glu)
c.3190T>G
c.7385T>G
c.4551T>G (p.Asp1517Glu)
c.7430T>G
c.10485T>G (p.Asp3495Glu)
c.639T>G (p.Asp213Glu)
c.1841T>G
c.1582T>G
c.3976T>G (n.3976T>G)
c.10359T>G (p.Asp3453Glu)
n.4288T>G
c.10488T>G (p.Asp3496Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.73572362T=CA1261020981ALMS1c.10104T= (p.Asp3368=)
c.3190T=
c.7385T=
c.4551T= (p.Asp1517=)
c.7430T=
c.10485T= (p.Asp3495=)
c.639T= (p.Asp213=)
c.1841T=
c.1582T=
c.3976T= (n.3976T=)
c.10359T= (p.Asp3453=)
n.4288T=
c.10488T= (p.Asp3496=)
2g.73572363A=CA1261020983ALMS1c.10105A= (p.Ile3369=)
c.3191A=
c.7386A=
c.4552A= (p.Ile1518=)
c.7431A=
c.10486A= (p.Ile3496=)
c.640A= (p.Ile214=)
c.1842A=
c.1583A=
c.3977A= (n.3977A=)
c.10360A= (p.Ile3454=)
n.4289A=
c.10489A= (p.Ile3497=)
2g.73572363A>CCA347283154ALMS1c.10105A>C (p.Ile3369Leu)
c.3191A>C
c.7386A>C
c.4552A>C (p.Ile1518Leu)
c.7431A>C
c.10486A>C (p.Ile3496Leu)
c.640A>C (p.Ile214Leu)
c.1842A>C
c.1583A>C
c.3977A>C (n.3977A>C)
c.10360A>C (p.Ile3454Leu)
n.4289A>C
c.10489A>C (p.Ile3497Leu)
2g.73572363A>GCA347283156ALMS1c.10105A>G (p.Ile3369Val)
c.3191A>G
c.7386A>G
c.4552A>G (p.Ile1518Val)
c.7431A>G
c.10486A>G (p.Ile3496Val)
c.640A>G (p.Ile214Val)
c.1842A>G
c.1583A>G
c.3977A>G (n.3977A>G)
c.10360A>G (p.Ile3454Val)
n.4289A>G
c.10489A>G (p.Ile3497Val)
 dbSNP gnomAD v2 gnomAD v4
2g.73572363A>TCA347283158ALMS1c.10105A>T (p.Ile3369Phe)
c.3191A>T
c.7386A>T
c.4552A>T (p.Ile1518Phe)
c.7431A>T
c.10486A>T (p.Ile3496Phe)
c.640A>T (p.Ile214Phe)
c.1842A>T
c.1583A>T
c.3977A>T (n.3977A>T)
c.10360A>T (p.Ile3454Phe)
n.4289A>T
c.10489A>T (p.Ile3497Phe)
2g.73572364T>ACA347283161ALMS1c.10106T>A (p.Ile3369Asn)
c.3192T>A
c.7387T>A
c.4553T>A (p.Ile1518Asn)
c.7432T>A
c.10487T>A (p.Ile3496Asn)
c.641T>A (p.Ile214Asn)
c.1843T>A
c.1584T>A
c.3978T>A (n.3978T>A)
c.10361T>A (p.Ile3454Asn)
n.4290T>A
c.10490T>A (p.Ile3497Asn)
2g.73572364T>CCA347283163ALMS1c.10106T>C (p.Ile3369Thr)
c.3192T>C
c.7387T>C
c.4553T>C (p.Ile1518Thr)
c.7432T>C
c.10487T>C (p.Ile3496Thr)
c.641T>C (p.Ile214Thr)
c.1843T>C
c.1584T>C
c.3978T>C (n.3978T>C)
c.10361T>C (p.Ile3454Thr)
n.4290T>C
c.10490T>C (p.Ile3497Thr)
2g.73572364T>GCA347283166ALMS1c.10106T>G (p.Ile3369Ser)
c.3192T>G
c.7387T>G
c.4553T>G (p.Ile1518Ser)
c.7432T>G
c.10487T>G (p.Ile3496Ser)
c.641T>G (p.Ile214Ser)
c.1843T>G
c.1584T>G
c.3978T>G (n.3978T>G)
c.10361T>G (p.Ile3454Ser)
n.4290T>G
c.10490T>G (p.Ile3497Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.73572364T=CA1261020985ALMS1c.10106T= (p.Ile3369=)
c.3192T=
c.7387T=
c.4553T= (p.Ile1518=)
c.7432T=
c.10487T= (p.Ile3496=)
c.641T= (p.Ile214=)
c.1843T=
c.1584T=
c.3978T= (n.3978T=)
c.10361T= (p.Ile3454=)
n.4290T=
c.10490T= (p.Ile3497=)
2g.73572365T>ACA427024487ALMS1c.10107T>A (p.Ile3369=)
c.3193T>A
c.7388T>A
c.4554T>A (p.Ile1518=)
c.7433T>A
c.10488T>A (p.Ile3496=)
c.642T>A (p.Ile214=)
c.1844T>A
c.1585T>A
c.3979T>A (n.3979T>A)
c.10362T>A (p.Ile3454=)
n.4291T>A
c.10491T>A (p.Ile3497=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572365T>CCA427024488ALMS1c.10107T>C (p.Ile3369=)
c.3193T>C
c.7388T>C
c.4554T>C (p.Ile1518=)
c.7433T>C
c.10488T>C (p.Ile3496=)
c.642T>C (p.Ile214=)
c.1844T>C
c.1585T>C
c.3979T>C (n.3979T>C)
c.10362T>C (p.Ile3454=)
n.4291T>C
c.10491T>C (p.Ile3497=)
2g.73572365T>GCA347283169ALMS1c.10107T>G (p.Ile3369Met)
c.3193T>G
c.7388T>G
c.4554T>G (p.Ile1518Met)
c.7433T>G
c.10488T>G (p.Ile3496Met)
c.642T>G (p.Ile214Met)
c.1844T>G
c.1585T>G
c.3979T>G (n.3979T>G)
c.10362T>G (p.Ile3454Met)
n.4291T>G
c.10491T>G (p.Ile3497Met)
2g.73572365T=CA1261020988ALMS1c.10107T= (p.Ile3369=)
c.3193T=
c.7388T=
c.4554T= (p.Ile1518=)
c.7433T=
c.10488T= (p.Ile3496=)
c.642T= (p.Ile214=)
c.1844T=
c.1585T=
c.3979T= (n.3979T=)
c.10362T= (p.Ile3454=)
n.4291T=
c.10491T= (p.Ile3497=)
2g.73572366T>ACA347283172ALMS1c.10108T>A (p.Cys3370Ser)
c.3194T>A
c.7389T>A
c.4555T>A (p.Cys1519Ser)
c.7434T>A
c.10489T>A (p.Cys3497Ser)
c.643T>A (p.Cys215Ser)
c.1845T>A
c.1586T>A
c.3980T>A (n.3980T>A)
c.10363T>A (p.Cys3455Ser)
n.4292T>A
c.10492T>A (p.Cys3498Ser)
2g.73572366T>CCA347283175ALMS1c.10108T>C (p.Cys3370Arg)
c.3194T>C
c.7389T>C
c.4555T>C (p.Cys1519Arg)
c.7434T>C
c.10489T>C (p.Cys3497Arg)
c.643T>C (p.Cys215Arg)
c.1845T>C
c.1586T>C
c.3980T>C (n.3980T>C)
c.10363T>C (p.Cys3455Arg)
n.4292T>C
c.10492T>C (p.Cys3498Arg)
2g.73572366T>GCA347283177ALMS1c.10108T>G (p.Cys3370Gly)
c.3194T>G
c.7389T>G
c.4555T>G (p.Cys1519Gly)
c.7434T>G
c.10489T>G (p.Cys3497Gly)
c.643T>G (p.Cys215Gly)
c.1845T>G
c.1586T>G
c.3980T>G (n.3980T>G)
c.10363T>G (p.Cys3455Gly)
n.4292T>G
c.10492T>G (p.Cys3498Gly)
2g.73572367G>ACA347283180ALMS1c.10109G>A (p.Cys3370Tyr)
c.3195G>A
c.7390G>A
c.4556G>A (p.Cys1519Tyr)
c.7435G>A
c.10490G>A (p.Cys3497Tyr)
c.644G>A (p.Cys215Tyr)
c.1846G>A
c.1587G>A
c.3981G>A (n.3981G>A)
c.10364G>A (p.Cys3455Tyr)
n.4293G>A
c.10493G>A (p.Cys3498Tyr)
 ClinVar gnomAD v4
2g.73572367G>CCA347283183ALMS1c.10109G>C (p.Cys3370Ser)
c.3195G>C
c.7390G>C
c.4556G>C (p.Cys1519Ser)
c.7435G>C
c.10490G>C (p.Cys3497Ser)
c.644G>C (p.Cys215Ser)
c.1846G>C
c.1587G>C
c.3981G>C (n.3981G>C)
c.10364G>C (p.Cys3455Ser)
n.4293G>C
c.10493G>C (p.Cys3498Ser)
 ClinVar gnomAD v4
2g.73572367G>TCA347283185ALMS1c.10109G>T (p.Cys3370Phe)
c.3195G>T
c.7390G>T
c.4556G>T (p.Cys1519Phe)
c.7435G>T
c.10490G>T (p.Cys3497Phe)
c.644G>T (p.Cys215Phe)
c.1846G>T
c.1587G>T
c.3981G>T (n.3981G>T)
c.10364G>T (p.Cys3455Phe)
n.4293G>T
c.10493G>T (p.Cys3498Phe)
2g.73572368C>ACA347283191ALMS1c.10110C>A (p.Cys3370Ter)
c.3196C>A
c.7391C>A
c.4557C>A (p.Cys1519Ter)
c.7436C>A
c.10491C>A (p.Cys3497Ter)
c.645C>A (p.Cys215Ter)
c.1847C>A
c.1588C>A
c.3982C>A (n.3982C>A)
c.10365C>A (p.Cys3455Ter)
n.4294C>A
c.10494C>A (p.Cys3498Ter)
2g.73572368C>GCA347283188ALMS1c.10110C>G (p.Cys3370Trp)
c.3196C>G
c.7391C>G
c.4557C>G (p.Cys1519Trp)
c.7436C>G
c.10491C>G (p.Cys3497Trp)
c.645C>G (p.Cys215Trp)
c.1847C>G
c.1588C>G
c.3982C>G (n.3982C>G)
c.10365C>G (p.Cys3455Trp)
n.4294C>G
c.10494C>G (p.Cys3498Trp)
2g.73572368C>TCA427024492ALMS1c.10110C>T (p.Cys3370=)
c.3196C>T
c.7391C>T
c.4557C>T (p.Cys1519=)
c.7436C>T
c.10491C>T (p.Cys3497=)
c.645C>T (p.Cys215=)
c.1847C>T
c.1588C>T
c.3982C>T (n.3982C>T)
c.10365C>T (p.Cys3455=)
n.4294C>T
c.10494C>T (p.Cys3498=)
2g.73572369C>ACA347283195ALMS1c.10111C>A (p.His3371Asn)
c.3197C>A
c.7392C>A
c.4558C>A (p.His1520Asn)
c.7437C>A
c.10492C>A (p.His3498Asn)
c.646C>A (p.His216Asn)
c.1848C>A
c.1589C>A
c.3983C>A (n.3983C>A)
c.10366C>A (p.His3456Asn)
n.4295C>A
c.10495C>A (p.His3499Asn)
2g.73572369C=CA1261020991ALMS1c.10111C= (p.His3371=)
c.3197C=
c.7392C=
c.4558C= (p.His1520=)
c.7437C=
c.10492C= (p.His3498=)
c.646C= (p.His216=)
c.1848C=
c.1589C=
c.3983C= (n.3983C=)
c.10366C= (p.His3456=)
n.4295C=
c.10495C= (p.His3499=)
2g.73572369C>GCA347283197ALMS1c.10111C>G (p.His3371Asp)
c.3197C>G
c.7392C>G
c.4558C>G (p.His1520Asp)
c.7437C>G
c.10492C>G (p.His3498Asp)
c.646C>G (p.His216Asp)
c.1848C>G
c.1589C>G
c.3983C>G (n.3983C>G)
c.10366C>G (p.His3456Asp)
n.4295C>G
c.10495C>G (p.His3499Asp)
2g.73572369C>TCA347283199ALMS1c.10111C>T (p.His3371Tyr)
c.3197C>T
c.7392C>T
c.4558C>T (p.His1520Tyr)
c.7437C>T
c.10492C>T (p.His3498Tyr)
c.646C>T (p.His216Tyr)
c.1848C>T
c.1589C>T
c.3983C>T (n.3983C>T)
c.10366C>T (p.His3456Tyr)
n.4295C>T
c.10495C>T (p.His3499Tyr)
 dbSNP
2g.73572370A=CA1261020996ALMS1c.10112A= (p.His3371=)
c.3198A=
c.7393A=
c.4559A= (p.His1520=)
c.7438A=
c.10493A= (p.His3498=)
c.647A= (p.His216=)
c.1849A=
c.1590A=
c.3984A= (n.3984A=)
c.10367A= (p.His3456=)
n.4296A=
c.10496A= (p.His3499=)
2g.73572370A>CCA347283202ALMS1c.10112A>C (p.His3371Pro)
c.3198A>C
c.7393A>C
c.4559A>C (p.His1520Pro)
c.7438A>C
c.10493A>C (p.His3498Pro)
c.647A>C (p.His216Pro)
c.1849A>C
c.1590A>C
c.3984A>C (n.3984A>C)
c.10367A>C (p.His3456Pro)
n.4296A>C
c.10496A>C (p.His3499Pro)
2g.73572370A>GCA1715014ALMS1c.10112A>G (p.His3371Arg)
c.3198A>G
c.7393A>G
c.4559A>G (p.His1520Arg)
c.7438A>G
c.10493A>G (p.His3498Arg)
c.647A>G (p.His216Arg)
c.1849A>G
c.1590A>G
c.3984A>G (n.3984A>G)
c.10367A>G (p.His3456Arg)
n.4296A>G
c.10496A>G (p.His3499Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572370A>TCA347283206ALMS1c.10112A>T (p.His3371Leu)
c.3198A>T
c.7393A>T
c.4559A>T (p.His1520Leu)
c.7438A>T
c.10493A>T (p.His3498Leu)
c.647A>T (p.His216Leu)
c.1849A>T
c.1590A>T
c.3984A>T (n.3984A>T)
c.10367A>T (p.His3456Leu)
n.4296A>T
c.10496A>T (p.His3499Leu)
2g.73572371T>ACA347283210ALMS1c.10113T>A (p.His3371Gln)
c.3199T>A
c.7394T>A
c.4560T>A (p.His1520Gln)
c.7439T>A
c.10494T>A (p.His3498Gln)
c.648T>A (p.His216Gln)
c.1850T>A
c.1591T>A
c.3985T>A (n.3985T>A)
c.10368T>A (p.His3456Gln)
n.4297T>A
c.10497T>A (p.His3499Gln)
2g.73572371T>CCA1715015ALMS1c.10113T>C (p.His3371=)
c.3199T>C
c.7394T>C
c.4560T>C (p.His1520=)
c.7439T>C
c.10494T>C (p.His3498=)
c.648T>C (p.His216=)
c.1850T>C
c.1591T>C
c.3985T>C (n.3985T>C)
c.10368T>C (p.His3456=)
n.4297T>C
c.10497T>C (p.His3499=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572371T>GCA347283214ALMS1c.10113T>G (p.His3371Gln)
c.3199T>G
c.7394T>G
c.4560T>G (p.His1520Gln)
c.7439T>G
c.10494T>G (p.His3498Gln)
c.648T>G (p.His216Gln)
c.1850T>G
c.1591T>G
c.3985T>G (n.3985T>G)
c.10368T>G (p.His3456Gln)
n.4297T>G
c.10497T>G (p.His3499Gln)
2g.73572371T=CA1261020999ALMS1c.10113T= (p.His3371=)
c.3199T=
c.7394T=
c.4560T= (p.His1520=)
c.7439T=
c.10494T= (p.His3498=)
c.648T= (p.His216=)
c.1850T=
c.1591T=
c.3985T= (n.3985T=)
c.10368T= (p.His3456=)
n.4297T=
c.10497T= (p.His3499=)
2g.73572372G>ACA347283218ALMS1c.10114G>A (p.Glu3372Lys)
c.3200G>A
c.7395G>A
c.4561G>A (p.Glu1521Lys)
c.7440G>A
c.10495G>A (p.Glu3499Lys)
c.649G>A (p.Glu217Lys)
c.1851G>A
c.1592G>A
c.3986G>A (n.3986G>A)
c.10369G>A (p.Glu3457Lys)
n.4298G>A
c.10498G>A (p.Glu3500Lys)
2g.73572372G>CCA347283220ALMS1c.10114G>C (p.Glu3372Gln)
c.3200G>C
c.7395G>C
c.4561G>C (p.Glu1521Gln)
c.7440G>C
c.10495G>C (p.Glu3499Gln)
c.649G>C (p.Glu217Gln)
c.1851G>C
c.1592G>C
c.3986G>C (n.3986G>C)
c.10369G>C (p.Glu3457Gln)
n.4298G>C
c.10498G>C (p.Glu3500Gln)
2g.73572372G>TCA347283222ALMS1c.10114G>T (p.Glu3372Ter)
c.3200G>T
c.7395G>T
c.4561G>T (p.Glu1521Ter)
c.7440G>T
c.10495G>T (p.Glu3499Ter)
c.649G>T (p.Glu217Ter)
c.1851G>T
c.1592G>T
c.3986G>T (n.3986G>T)
c.10369G>T (p.Glu3457Ter)
n.4298G>T
c.10498G>T (p.Glu3500Ter)
2g.73572373A=CA1261021003ALMS1c.10115A= (p.Glu3372=)
c.3201A=
c.7396A=
c.4562A= (p.Glu1521=)
c.7441A=
c.10496A= (p.Glu3499=)
c.650A= (p.Glu217=)
c.1852A=
c.1593A=
c.3987A= (n.3987A=)
c.10370A= (p.Glu3457=)
n.4299A=
c.10499A= (p.Glu3500=)
2g.73572373A>CCA347283226ALMS1c.10115A>C (p.Glu3372Ala)
c.3201A>C
c.7396A>C
c.4562A>C (p.Glu1521Ala)
c.7441A>C
c.10496A>C (p.Glu3499Ala)
c.650A>C (p.Glu217Ala)
c.1852A>C
c.1593A>C
c.3987A>C (n.3987A>C)
c.10370A>C (p.Glu3457Ala)
n.4299A>C
c.10499A>C (p.Glu3500Ala)
2g.73572373A>GCA347283229ALMS1c.10115A>G (p.Glu3372Gly)
c.3201A>G
c.7396A>G
c.4562A>G (p.Glu1521Gly)
c.7441A>G
c.10496A>G (p.Glu3499Gly)
c.650A>G (p.Glu217Gly)
c.1852A>G
c.1593A>G
c.3987A>G (n.3987A>G)
c.10370A>G (p.Glu3457Gly)
n.4299A>G
c.10499A>G (p.Glu3500Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.73572373A>TCA50386204ALMS1c.10115A>T (p.Glu3372Val)
c.3201A>T
c.7396A>T
c.4562A>T (p.Glu1521Val)
c.7441A>T
c.10496A>T (p.Glu3499Val)
c.650A>T (p.Glu217Val)
c.1852A>T
c.1593A>T
c.3987A>T (n.3987A>T)
c.10370A>T (p.Glu3457Val)
n.4299A>T
c.10499A>T (p.Glu3500Val)
 dbSNP
2g.73572374A=CA1261021009ALMS1c.10116A= (p.Glu3372=)
c.3202A=
c.7397A=
c.4563A= (p.Glu1521=)
c.7442A=
c.10497A= (p.Glu3499=)
c.651A= (p.Glu217=)
c.1853A=
c.1594A=
c.3988A= (n.3988A=)
c.10371A= (p.Glu3457=)
n.4300A=
c.10500A= (p.Glu3500=)
2g.73572374A>CCA347283233ALMS1c.10116A>C (p.Glu3372Asp)
c.3202A>C
c.7397A>C
c.4563A>C (p.Glu1521Asp)
c.7442A>C
c.10497A>C (p.Glu3499Asp)
c.651A>C (p.Glu217Asp)
c.1853A>C
c.1594A>C
c.3988A>C (n.3988A>C)
c.10371A>C (p.Glu3457Asp)
n.4300A>C
c.10500A>C (p.Glu3500Asp)
2g.73572374A>GCA427024521ALMS1c.10116A>G (p.Glu3372=)
c.3202A>G
c.7397A>G
c.4563A>G (p.Glu1521=)
c.7442A>G
c.10497A>G (p.Glu3499=)
c.651A>G (p.Glu217=)
c.1853A>G
c.1594A>G
c.3988A>G (n.3988A>G)
c.10371A>G (p.Glu3457=)
n.4300A>G
c.10500A>G (p.Glu3500=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572374A>TCA347283235ALMS1c.10116A>T (p.Glu3372Asp)
c.3202A>T
c.7397A>T
c.4563A>T (p.Glu1521Asp)
c.7442A>T
c.10497A>T (p.Glu3499Asp)
c.651A>T (p.Glu217Asp)
c.1853A>T
c.1594A>T
c.3988A>T (n.3988A>T)
c.10371A>T (p.Glu3457Asp)
n.4300A>T
c.10500A>T (p.Glu3500Asp)
2g.73572375T>ACA347283239ALMS1c.10117T>A (p.Ser3373Thr)
c.3203T>A
c.7398T>A
c.4564T>A (p.Ser1522Thr)
c.7443T>A
c.10498T>A (p.Ser3500Thr)
c.652T>A (p.Ser218Thr)
c.1854T>A
c.1595T>A
c.3989T>A (n.3989T>A)
c.10372T>A (p.Ser3458Thr)
n.4301T>A
c.10501T>A (p.Ser3501Thr)
2g.73572375T>CCA347283243ALMS1c.10117T>C (p.Ser3373Pro)
c.3203T>C
c.7398T>C
c.4564T>C (p.Ser1522Pro)
c.7443T>C
c.10498T>C (p.Ser3500Pro)
c.652T>C (p.Ser218Pro)
c.1854T>C
c.1595T>C
c.3989T>C (n.3989T>C)
c.10372T>C (p.Ser3458Pro)
n.4301T>C
c.10501T>C (p.Ser3501Pro)
2g.73572375T>GCA347283241ALMS1c.10117T>G (p.Ser3373Ala)
c.3203T>G
c.7398T>G
c.4564T>G (p.Ser1522Ala)
c.7443T>G
c.10498T>G (p.Ser3500Ala)
c.652T>G (p.Ser218Ala)
c.1854T>G
c.1595T>G
c.3989T>G (n.3989T>G)
c.10372T>G (p.Ser3458Ala)
n.4301T>G
c.10501T>G (p.Ser3501Ala)
2g.73572376C>ACA347283245ALMS1c.10118C>A (p.Ser3373Tyr)
c.3204C>A
c.7399C>A
c.4565C>A (p.Ser1522Tyr)
c.7444C>A
c.10499C>A (p.Ser3500Tyr)
c.653C>A (p.Ser218Tyr)
c.1855C>A
c.1596C>A
c.3990C>A (n.3990C>A)
c.10373C>A (p.Ser3458Tyr)
n.4302C>A
c.10502C>A (p.Ser3501Tyr)
2g.73572376C=CA1261021012ALMS1c.10118C= (p.Ser3373=)
c.3204C=
c.7399C=
c.4565C= (p.Ser1522=)
c.7444C=
c.10499C= (p.Ser3500=)
c.653C= (p.Ser218=)
c.1855C=
c.1596C=
c.3990C= (n.3990C=)
c.10373C= (p.Ser3458=)
n.4302C=
c.10502C= (p.Ser3501=)
2g.73572376C>GCA50386208ALMS1c.10118C>G (p.Ser3373Cys)
c.3204C>G
c.7399C>G
c.4565C>G (p.Ser1522Cys)
c.7444C>G
c.10499C>G (p.Ser3500Cys)
c.653C>G (p.Ser218Cys)
c.1855C>G
c.1596C>G
c.3990C>G (n.3990C>G)
c.10373C>G (p.Ser3458Cys)
n.4302C>G
c.10502C>G (p.Ser3501Cys)
 dbSNP gnomAD v4
2g.73572376C>TCA347283248ALMS1c.10118C>T (p.Ser3373Phe)
c.3204C>T
c.7399C>T
c.4565C>T (p.Ser1522Phe)
c.7444C>T
c.10499C>T (p.Ser3500Phe)
c.653C>T (p.Ser218Phe)
c.1855C>T
c.1596C>T
c.3990C>T (n.3990C>T)
c.10373C>T (p.Ser3458Phe)
n.4302C>T
c.10502C>T (p.Ser3501Phe)
2g.73572377T>ACA427024527ALMS1c.10119T>A (p.Ser3373=)
c.3205T>A
c.7400T>A
c.4566T>A (p.Ser1522=)
c.7445T>A
c.10500T>A (p.Ser3500=)
c.654T>A (p.Ser218=)
c.1856T>A
c.1597T>A
c.3991T>A (n.3991T>A)
c.10374T>A (p.Ser3458=)
n.4303T>A
c.10503T>A (p.Ser3501=)
2g.73572377T>CCA427024530ALMS1c.10119T>C (p.Ser3373=)
c.3205T>C
c.7400T>C
c.4566T>C (p.Ser1522=)
c.7445T>C
c.10500T>C (p.Ser3500=)
c.654T>C (p.Ser218=)
c.1856T>C
c.1597T>C
c.3991T>C (n.3991T>C)
c.10374T>C (p.Ser3458=)
n.4303T>C
c.10503T>C (p.Ser3501=)
2g.73572377T>GCA427024528ALMS1c.10119T>G (p.Ser3373=)
c.3205T>G
c.7400T>G
c.4566T>G (p.Ser1522=)
c.7445T>G
c.10500T>G (p.Ser3500=)
c.654T>G (p.Ser218=)
c.1856T>G
c.1597T>G
c.3991T>G (n.3991T>G)
c.10374T>G (p.Ser3458=)
n.4303T>G
c.10503T>G (p.Ser3501=)
2g.73572378T>ACA1715016ALMS1c.10120T>A (p.Leu3374Met)
c.3206T>A
c.7401T>A
c.4567T>A (p.Leu1523Met)
c.7446T>A
c.10501T>A (p.Leu3501Met)
c.655T>A (p.Leu219Met)
c.1857T>A
c.1598T>A
c.3992T>A (n.3992T>A)
c.10375T>A (p.Leu3459Met)
n.4304T>A
c.10504T>A (p.Leu3502Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572378T>CCA427024534ALMS1c.10120T>C (p.Leu3374=)
c.3206T>C
c.7401T>C
c.4567T>C (p.Leu1523=)
c.7446T>C
c.10501T>C (p.Leu3501=)
c.655T>C (p.Leu219=)
c.1857T>C
c.1598T>C
c.3992T>C (n.3992T>C)
c.10375T>C (p.Leu3459=)
n.4304T>C
c.10504T>C (p.Leu3502=)
 dbSNP
2g.73572378T>GCA347283251ALMS1c.10120T>G (p.Leu3374Val)
c.3206T>G
c.7401T>G
c.4567T>G (p.Leu1523Val)
c.7446T>G
c.10501T>G (p.Leu3501Val)
c.655T>G (p.Leu219Val)
c.1857T>G
c.1598T>G
c.3992T>G (n.3992T>G)
c.10375T>G (p.Leu3459Val)
n.4304T>G
c.10504T>G (p.Leu3502Val)
2g.73572378T=CA1261021017ALMS1c.10120T= (p.Leu3374=)
c.3206T=
c.7401T=
c.4567T= (p.Leu1523=)
c.7446T=
c.10501T= (p.Leu3501=)
c.655T= (p.Leu219=)
c.1857T=
c.1598T=
c.3992T= (n.3992T=)
c.10375T= (p.Leu3459=)
n.4304T=
c.10504T= (p.Leu3502=)
2g.73572379T>ACA347283255ALMS1c.10121T>A (p.Leu3374Ter)
c.3207T>A
c.7402T>A
c.4568T>A (p.Leu1523Ter)
c.7447T>A
c.10502T>A (p.Leu3501Ter)
c.656T>A (p.Leu219Ter)
c.1858T>A
c.1599T>A
c.3993T>A (n.3993T>A)
c.10376T>A (p.Leu3459Ter)
n.4305T>A
c.10505T>A (p.Leu3502Ter)
2g.73572379T>CCA347283257ALMS1c.10121T>C (p.Leu3374Ser)
c.3207T>C
c.7402T>C
c.4568T>C (p.Leu1523Ser)
c.7447T>C
c.10502T>C (p.Leu3501Ser)
c.656T>C (p.Leu219Ser)
c.1858T>C
c.1599T>C
c.3993T>C (n.3993T>C)
c.10376T>C (p.Leu3459Ser)
n.4305T>C
c.10505T>C (p.Leu3502Ser)
2g.73572379T>GCA347283259ALMS1c.10121T>G (p.Leu3374Trp)
c.3207T>G
c.7402T>G
c.4568T>G (p.Leu1523Trp)
c.7447T>G
c.10502T>G (p.Leu3501Trp)
c.656T>G (p.Leu219Trp)
c.1858T>G
c.1599T>G
c.3993T>G (n.3993T>G)
c.10376T>G (p.Leu3459Trp)
n.4305T>G
c.10505T>G (p.Leu3502Trp)
2g.73572380G>ACA427024549ALMS1c.10122G>A (p.Leu3374=)
c.3208G>A
c.7403G>A
c.4569G>A (p.Leu1523=)
c.7448G>A
c.10503G>A (p.Leu3501=)
c.657G>A (p.Leu219=)
c.1859G>A
c.1600G>A
c.3994G>A (n.3994G>A)
c.10377G>A (p.Leu3459=)
n.4306G>A
c.10506G>A (p.Leu3502=)
 gnomAD v4
2g.73572380G>CCA347283262ALMS1c.10122G>C (p.Leu3374Phe)
c.3208G>C
c.7403G>C
c.4569G>C (p.Leu1523Phe)
c.7448G>C
c.10503G>C (p.Leu3501Phe)
c.657G>C (p.Leu219Phe)
c.1859G>C
c.1600G>C
c.3994G>C (n.3994G>C)
c.10377G>C (p.Leu3459Phe)
n.4306G>C
c.10506G>C (p.Leu3502Phe)
 gnomAD v4
2g.73572380G>TCA347283264ALMS1c.10122G>T (p.Leu3374Phe)
c.3208G>T
c.7403G>T
c.4569G>T (p.Leu1523Phe)
c.7448G>T
c.10503G>T (p.Leu3501Phe)
c.657G>T (p.Leu219Phe)
c.1859G>T
c.1600G>T
c.3994G>T (n.3994G>T)
c.10377G>T (p.Leu3459Phe)
n.4306G>T
c.10506G>T (p.Leu3502Phe)
2g.73572381G>ACA347283270ALMS1c.10123G>A (p.Gly3375Arg)
c.3209G>A
c.7404G>A
c.4570G>A (p.Gly1524Arg)
c.7449G>A
c.10504G>A (p.Gly3502Arg)
c.658G>A (p.Gly220Arg)
c.1860G>A
c.1601G>A
c.3995G>A (n.3995G>A)
c.10378G>A (p.Gly3460Arg)
n.4307G>A
c.10507G>A (p.Gly3503Arg)
2g.73572381G>CCA347283268ALMS1c.10123G>C (p.Gly3375Arg)
c.3209G>C
c.7404G>C
c.4570G>C (p.Gly1524Arg)
c.7449G>C
c.10504G>C (p.Gly3502Arg)
c.658G>C (p.Gly220Arg)
c.1860G>C
c.1601G>C
c.3995G>C (n.3995G>C)
c.10378G>C (p.Gly3460Arg)
n.4307G>C
c.10507G>C (p.Gly3503Arg)
2g.73572381G>TCA347283267ALMS1c.10123G>T (p.Gly3375Ter)
c.3209G>T
c.7404G>T
c.4570G>T (p.Gly1524Ter)
c.7449G>T
c.10504G>T (p.Gly3502Ter)
c.658G>T (p.Gly220Ter)
c.1860G>T
c.1601G>T
c.3995G>T (n.3995G>T)
c.10378G>T (p.Gly3460Ter)
n.4307G>T
c.10507G>T (p.Gly3503Ter)
2g.73572382G>ACA347283274ALMS1c.10124G>A (p.Gly3375Glu)
c.3210G>A
c.7405G>A
c.4571G>A (p.Gly1524Glu)
c.7450G>A
c.10505G>A (p.Gly3502Glu)
c.659G>A (p.Gly220Glu)
c.1861G>A
c.1602G>A
c.3996G>A (n.3996G>A)
c.10379G>A (p.Gly3460Glu)
n.4308G>A
c.10508G>A (p.Gly3503Glu)
 gnomAD v4
2g.73572382G>CCA347283275ALMS1c.10124G>C (p.Gly3375Ala)
c.3210G>C
c.7405G>C
c.4571G>C (p.Gly1524Ala)
c.7450G>C
c.10505G>C (p.Gly3502Ala)
c.659G>C (p.Gly220Ala)
c.1861G>C
c.1602G>C
c.3996G>C (n.3996G>C)
c.10379G>C (p.Gly3460Ala)
n.4308G>C
c.10508G>C (p.Gly3503Ala)
2g.73572382G>TCA347283278ALMS1c.10124G>T (p.Gly3375Val)
c.3210G>T
c.7405G>T
c.4571G>T (p.Gly1524Val)
c.7450G>T
c.10505G>T (p.Gly3502Val)
c.659G>T (p.Gly220Val)
c.1861G>T
c.1602G>T
c.3996G>T (n.3996G>T)
c.10379G>T (p.Gly3460Val)
n.4308G>T
c.10508G>T (p.Gly3503Val)
2g.73572384_73572387delCA2580068165ALMS1c.10126_10129del (p.Lys3376ValfsTer4)
c.3212_3215del
c.7407_7410del
c.4573_4576del (p.Lys1525ValfsTer4)
c.7452_7455del
c.10507_10510del (p.Lys3503ValfsTer4)
c.661_664del (p.Lys221ValfsTer4)
c.1863_1866del
c.1604_1607del
c.3998_4001del (n.3998_4001del)
c.10381_10384del (p.Lys3461ValfsTer4)
n.4310_4313del
c.10510_10513del (p.Lys3504ValfsTer4)
 ClinVar gnomAD v4
2g.73572383A=CA1261021021ALMS1c.10125A= (p.Gly3375=)
c.3211A=
c.7406A=
c.4572A= (p.Gly1524=)
c.7451A=
c.10506A= (p.Gly3502=)
c.660A= (p.Gly220=)
c.1862A=
c.1603A=
c.3997A= (n.3997A=)
c.10380A= (p.Gly3460=)
n.4309A=
c.10509A= (p.Gly3503=)
2g.73572383A>CCA427024558ALMS1c.10125A>C (p.Gly3375=)
c.3211A>C
c.7406A>C
c.4572A>C (p.Gly1524=)
c.7451A>C
c.10506A>C (p.Gly3502=)
c.660A>C (p.Gly220=)
c.1862A>C
c.1603A>C
c.3997A>C (n.3997A>C)
c.10380A>C (p.Gly3460=)
n.4309A>C
c.10509A>C (p.Gly3503=)
2g.73572383A>GCA427024560ALMS1c.10125A>G (p.Gly3375=)
c.3211A>G
c.7406A>G
c.4572A>G (p.Gly1524=)
c.7451A>G
c.10506A>G (p.Gly3502=)
c.660A>G (p.Gly220=)
c.1862A>G
c.1603A>G
c.3997A>G (n.3997A>G)
c.10380A>G (p.Gly3460=)
n.4309A>G
c.10509A>G (p.Gly3503=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572383A>TCA427024561ALMS1c.10125A>T (p.Gly3375=)
c.3211A>T
c.7406A>T
c.4572A>T (p.Gly1524=)
c.7451A>T
c.10506A>T (p.Gly3502=)
c.660A>T (p.Gly220=)
c.1862A>T
c.1603A>T
c.3997A>T (n.3997A>T)
c.10380A>T (p.Gly3460=)
n.4309A>T
c.10509A>T (p.Gly3503=)
2g.73572384A>CCA347283281ALMS1c.10126A>C (p.Lys3376Gln)
c.3212A>C
c.7407A>C
c.4573A>C (p.Lys1525Gln)
c.7452A>C
c.10507A>C (p.Lys3503Gln)
c.661A>C (p.Lys221Gln)
c.1863A>C
c.1604A>C
c.3998A>C (n.3998A>C)
c.10381A>C (p.Lys3461Gln)
n.4310A>C
c.10510A>C (p.Lys3504Gln)
2g.73572384A>GCA347283283ALMS1c.10126A>G (p.Lys3376Glu)
c.3212A>G
c.7407A>G
c.4573A>G (p.Lys1525Glu)
c.7452A>G
c.10507A>G (p.Lys3503Glu)
c.661A>G (p.Lys221Glu)
c.1863A>G
c.1604A>G
c.3998A>G (n.3998A>G)
c.10381A>G (p.Lys3461Glu)
n.4310A>G
c.10510A>G (p.Lys3504Glu)
 gnomAD v4
2g.73572384A>TCA347283285ALMS1c.10126A>T (p.Lys3376Ter)
c.3212A>T
c.7407A>T
c.4573A>T (p.Lys1525Ter)
c.7452A>T
c.10507A>T (p.Lys3503Ter)
c.661A>T (p.Lys221Ter)
c.1863A>T
c.1604A>T
c.3998A>T (n.3998A>T)
c.10381A>T (p.Lys3461Ter)
n.4310A>T
c.10510A>T (p.Lys3504Ter)
2g.73572385A=CA1261021024ALMS1c.10127A= (p.Lys3376=)
c.3213A=
c.7408A=
c.4574A= (p.Lys1525=)
c.7453A=
c.10508A= (p.Lys3503=)
c.662A= (p.Lys221=)
c.1864A=
c.1605A=
c.3999A= (n.3999A=)
c.10382A= (p.Lys3461=)
n.4311A=
c.10511A= (p.Lys3504=)
2g.73572385A>CCA347283288ALMS1c.10127A>C (p.Lys3376Thr)
c.3213A>C
c.7408A>C
c.4574A>C (p.Lys1525Thr)
c.7453A>C
c.10508A>C (p.Lys3503Thr)
c.662A>C (p.Lys221Thr)
c.1864A>C
c.1605A>C
c.3999A>C (n.3999A>C)
c.10382A>C (p.Lys3461Thr)
n.4311A>C
c.10511A>C (p.Lys3504Thr)
2g.73572385A>GCA50386217ALMS1c.10127A>G (p.Lys3376Arg)
c.3213A>G
c.7408A>G
c.4574A>G (p.Lys1525Arg)
c.7453A>G
c.10508A>G (p.Lys3503Arg)
c.662A>G (p.Lys221Arg)
c.1864A>G
c.1605A>G
c.3999A>G (n.3999A>G)
c.10382A>G (p.Lys3461Arg)
n.4311A>G
c.10511A>G (p.Lys3504Arg)
 dbSNP
2g.73572385A>TCA347283293ALMS1c.10127A>T (p.Lys3376Met)
c.3213A>T
c.7408A>T
c.4574A>T (p.Lys1525Met)
c.7453A>T
c.10508A>T (p.Lys3503Met)
c.662A>T (p.Lys221Met)
c.1864A>T
c.1605A>T
c.3999A>T (n.3999A>T)
c.10382A>T (p.Lys3461Met)
n.4311A>T
c.10511A>T (p.Lys3504Met)
2g.73572386G>ACA427024572ALMS1c.10128G>A (p.Lys3376=)
c.3214G>A
c.7409G>A
c.4575G>A (p.Lys1525=)
c.7454G>A
c.10509G>A (p.Lys3503=)
c.663G>A (p.Lys221=)
c.1865G>A
c.1606G>A
c.4000G>A (n.4000G>A)
c.10383G>A (p.Lys3461=)
n.4312G>A
c.10512G>A (p.Lys3504=)
2g.73572386G>CCA347283296ALMS1c.10128G>C (p.Lys3376Asn)
c.3214G>C
c.7409G>C
c.4575G>C (p.Lys1525Asn)
c.7454G>C
c.10509G>C (p.Lys3503Asn)
c.663G>C (p.Lys221Asn)
c.1865G>C
c.1606G>C
c.4000G>C (n.4000G>C)
c.10383G>C (p.Lys3461Asn)
n.4312G>C
c.10512G>C (p.Lys3504Asn)
2g.73572386G>TCA347283298ALMS1c.10128G>T (p.Lys3376Asn)
c.3214G>T
c.7409G>T
c.4575G>T (p.Lys1525Asn)
c.7454G>T
c.10509G>T (p.Lys3503Asn)
c.663G>T (p.Lys221Asn)
c.1865G>T
c.1606G>T
c.4000G>T (n.4000G>T)
c.10383G>T (p.Lys3461Asn)
n.4312G>T
c.10512G>T (p.Lys3504Asn)
2g.73572387A=CA1261021028ALMS1c.10129A= (p.Ser3377=)
c.3215A=
c.7410A=
c.4576A= (p.Ser1526=)
c.7455A=
c.10510A= (p.Ser3504=)
c.664A= (p.Ser222=)
c.1866A=
c.1607A=
c.4001A= (n.4001A=)
c.10384A= (p.Ser3462=)
n.4313A=
c.10513A= (p.Ser3505=)
2g.73572387A>CCA347283302ALMS1c.10129A>C (p.Ser3377Arg)
c.3215A>C
c.7410A>C
c.4576A>C (p.Ser1526Arg)
c.7455A>C
c.10510A>C (p.Ser3504Arg)
c.664A>C (p.Ser222Arg)
c.1866A>C
c.1607A>C
c.4001A>C (n.4001A>C)
c.10384A>C (p.Ser3462Arg)
n.4313A>C
c.10513A>C (p.Ser3505Arg)
2g.73572387A>GCA347283304ALMS1c.10129A>G (p.Ser3377Gly)
c.3215A>G
c.7410A>G
c.4576A>G (p.Ser1526Gly)
c.7455A>G
c.10510A>G (p.Ser3504Gly)
c.664A>G (p.Ser222Gly)
c.1866A>G
c.1607A>G
c.4001A>G (n.4001A>G)
c.10384A>G (p.Ser3462Gly)
n.4313A>G
c.10513A>G (p.Ser3505Gly)
 ClinVar dbSNP
2g.73572387A>TCA50386218ALMS1c.10129A>T (p.Ser3377Cys)
c.3215A>T
c.7410A>T
c.4576A>T (p.Ser1526Cys)
c.7455A>T
c.10510A>T (p.Ser3504Cys)
c.664A>T (p.Ser222Cys)
c.1866A>T
c.1607A>T
c.4001A>T (n.4001A>T)
c.10384A>T (p.Ser3462Cys)
n.4313A>T
c.10513A>T (p.Ser3505Cys)
 dbSNP
2g.73572388G>ACA347283306ALMS1c.10130G>A (p.Ser3377Asn)
c.3216G>A
c.7411G>A
c.4577G>A (p.Ser1526Asn)
c.7456G>A
c.10511G>A (p.Ser3504Asn)
c.665G>A (p.Ser222Asn)
c.1867G>A
c.1608G>A
c.4002G>A (n.4002G>A)
c.10385G>A (p.Ser3462Asn)
n.4314G>A
c.10514G>A (p.Ser3505Asn)
 ClinVar dbSNP gnomAD v4
2g.73572388G>CCA347283309ALMS1c.10130G>C (p.Ser3377Thr)
c.3216G>C
c.7411G>C
c.4577G>C (p.Ser1526Thr)
c.7456G>C
c.10511G>C (p.Ser3504Thr)
c.665G>C (p.Ser222Thr)
c.1867G>C
c.1608G>C
c.4002G>C (n.4002G>C)
c.10385G>C (p.Ser3462Thr)
n.4314G>C
c.10514G>C (p.Ser3505Thr)
2g.73572388G=CA1261021030ALMS1c.10130G= (p.Ser3377=)
c.3216G=
c.7411G=
c.4577G= (p.Ser1526=)
c.7456G=
c.10511G= (p.Ser3504=)
c.665G= (p.Ser222=)
c.1867G=
c.1608G=
c.4002G= (n.4002G=)
c.10385G= (p.Ser3462=)
n.4314G=
c.10514G= (p.Ser3505=)
2g.73572388G>TCA347283311ALMS1c.10130G>T (p.Ser3377Ile)
c.3216G>T
c.7411G>T
c.4577G>T (p.Ser1526Ile)
c.7456G>T
c.10511G>T (p.Ser3504Ile)
c.665G>T (p.Ser222Ile)
c.1867G>T
c.1608G>T
c.4002G>T (n.4002G>T)
c.10385G>T (p.Ser3462Ile)
n.4314G>T
c.10514G>T (p.Ser3505Ile)
2g.73572389T>ACA347283315ALMS1c.10131T>A (p.Ser3377Arg)
c.3217T>A
c.7412T>A
c.4578T>A (p.Ser1526Arg)
c.7457T>A
c.10512T>A (p.Ser3504Arg)
c.666T>A (p.Ser222Arg)
c.1868T>A
c.1609T>A
c.4003T>A (n.4003T>A)
c.10386T>A (p.Ser3462Arg)
n.4315T>A
c.10515T>A (p.Ser3505Arg)
2g.73572389T>CCA427024582ALMS1c.10131T>C (p.Ser3377=)
c.3217T>C
c.7412T>C
c.4578T>C (p.Ser1526=)
c.7457T>C
c.10512T>C (p.Ser3504=)
c.666T>C (p.Ser222=)
c.1868T>C
c.1609T>C
c.4003T>C (n.4003T>C)
c.10386T>C (p.Ser3462=)
n.4315T>C
c.10515T>C (p.Ser3505=)
2g.73572389T>GCA50386219ALMS1c.10131T>G (p.Ser3377Arg)
c.3217T>G
c.7412T>G
c.4578T>G (p.Ser1526Arg)
c.7457T>G
c.10512T>G (p.Ser3504Arg)
c.666T>G (p.Ser222Arg)
c.1868T>G
c.1609T>G
c.4003T>G (n.4003T>G)
c.10386T>G (p.Ser3462Arg)
n.4315T>G
c.10515T>G (p.Ser3505Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.73572389T=CA1261021032ALMS1c.10131T= (p.Ser3377=)
c.3217T=
c.7412T=
c.4578T= (p.Ser1526=)
c.7457T=
c.10512T= (p.Ser3504=)
c.666T= (p.Ser222=)
c.1868T=
c.1609T=
c.4003T= (n.4003T=)
c.10386T= (p.Ser3462=)
n.4315T=
c.10515T= (p.Ser3505=)
2g.73572390G>ACA347283321ALMS1c.10132G>A (p.Val3378Ile)
c.3218G>A
c.7413G>A
c.4579G>A (p.Val1527Ile)
c.7458G>A
c.10513G>A (p.Val3505Ile)
c.667G>A (p.Val223Ile)
c.1869G>A
c.1610G>A
c.4004G>A (n.4004G>A)
c.10387G>A (p.Val3463Ile)
n.4316G>A
c.10516G>A (p.Val3506Ile)
2g.73572390G>CCA347283324ALMS1c.10132G>C (p.Val3378Leu)
c.3218G>C
c.7413G>C
c.4579G>C (p.Val1527Leu)
c.7458G>C
c.10513G>C (p.Val3505Leu)
c.667G>C (p.Val223Leu)
c.1869G>C
c.1610G>C
c.4004G>C (n.4004G>C)
c.10387G>C (p.Val3463Leu)
n.4316G>C
c.10516G>C (p.Val3506Leu)
2g.73572390G>TCA347283326ALMS1c.10132G>T (p.Val3378Phe)
c.3218G>T
c.7413G>T
c.4579G>T (p.Val1527Phe)
c.7458G>T
c.10513G>T (p.Val3505Phe)
c.667G>T (p.Val223Phe)
c.1869G>T
c.1610G>T
c.4004G>T (n.4004G>T)
c.10387G>T (p.Val3463Phe)
n.4316G>T
c.10516G>T (p.Val3506Phe)
2g.73572391T>ACA347283329ALMS1c.10133T>A (p.Val3378Asp)
c.3219T>A
c.7414T>A
c.4580T>A (p.Val1527Asp)
c.7459T>A
c.10514T>A (p.Val3505Asp)
c.668T>A (p.Val223Asp)
c.1870T>A
c.1611T>A
c.4005T>A (n.4005T>A)
c.10388T>A (p.Val3463Asp)
n.4317T>A
c.10517T>A (p.Val3506Asp)
2g.73572391T>CCA347283331ALMS1c.10133T>C (p.Val3378Ala)
c.3219T>C
c.7414T>C
c.4580T>C (p.Val1527Ala)
c.7459T>C
c.10514T>C (p.Val3505Ala)
c.668T>C (p.Val223Ala)
c.1870T>C
c.1611T>C
c.4005T>C (n.4005T>C)
c.10388T>C (p.Val3463Ala)
n.4317T>C
c.10517T>C (p.Val3506Ala)
2g.73572391T>GCA347283333ALMS1c.10133T>G (p.Val3378Gly)
c.3219T>G
c.7414T>G
c.4580T>G (p.Val1527Gly)
c.7459T>G
c.10514T>G (p.Val3505Gly)
c.668T>G (p.Val223Gly)
c.1870T>G
c.1611T>G
c.4005T>G (n.4005T>G)
c.10388T>G (p.Val3463Gly)
n.4317T>G
c.10517T>G (p.Val3506Gly)
2g.73572392T>ACA427024594ALMS1c.10134T>A (p.Val3378=)
c.3220T>A
c.7415T>A
c.4581T>A (p.Val1527=)
c.7460T>A
c.10515T>A (p.Val3505=)
c.669T>A (p.Val223=)
c.1871T>A
c.1612T>A
c.4006T>A (n.4006T>A)
c.10389T>A (p.Val3463=)
n.4318T>A
c.10518T>A (p.Val3506=)
2g.73572392T>CCA427024598ALMS1c.10134T>C (p.Val3378=)
c.3220T>C
c.7415T>C
c.4581T>C (p.Val1527=)
c.7460T>C
c.10515T>C (p.Val3505=)
c.669T>C (p.Val223=)
c.1871T>C
c.1612T>C
c.4006T>C (n.4006T>C)
c.10389T>C (p.Val3463=)
n.4318T>C
c.10518T>C (p.Val3506=)
2g.73572392T>GCA427024600ALMS1c.10134T>G (p.Val3378=)
c.3220T>G
c.7415T>G
c.4581T>G (p.Val1527=)
c.7460T>G
c.10515T>G (p.Val3505=)
c.669T>G (p.Val223=)
c.1871T>G
c.1612T>G
c.4006T>G (n.4006T>G)
c.10389T>G (p.Val3463=)
n.4318T>G
c.10518T>G (p.Val3506=)
2g.73572393T>ACA347283339ALMS1c.10135T>A (p.Phe3379Ile)
c.3221T>A
c.7416T>A
c.4582T>A (p.Phe1528Ile)
c.7461T>A
c.10516T>A (p.Phe3506Ile)
c.670T>A (p.Phe224Ile)
c.1872T>A
c.1613T>A
c.4007T>A (n.4007T>A)
c.10390T>A (p.Phe3464Ile)
n.4319T>A
c.10519T>A (p.Phe3507Ile)
2g.73572393T>CCA347283342ALMS1c.10135T>C (p.Phe3379Leu)
c.3221T>C
c.7416T>C
c.4582T>C (p.Phe1528Leu)
c.7461T>C
c.10516T>C (p.Phe3506Leu)
c.670T>C (p.Phe224Leu)
c.1872T>C
c.1613T>C
c.4007T>C (n.4007T>C)
c.10390T>C (p.Phe3464Leu)
n.4319T>C
c.10519T>C (p.Phe3507Leu)
2g.73572393T>GCA347283337ALMS1c.10135T>G (p.Phe3379Val)
c.3221T>G
c.7416T>G
c.4582T>G (p.Phe1528Val)
c.7461T>G
c.10516T>G (p.Phe3506Val)
c.670T>G (p.Phe224Val)
c.1872T>G
c.1613T>G
c.4007T>G (n.4007T>G)
c.10390T>G (p.Phe3464Val)
n.4319T>G
c.10519T>G (p.Phe3507Val)
2g.73572394T>ACA347283346ALMS1c.10136T>A (p.Phe3379Tyr)
c.3222T>A
c.7417T>A
c.4583T>A (p.Phe1528Tyr)
c.7462T>A
c.10517T>A (p.Phe3506Tyr)
c.671T>A (p.Phe224Tyr)
c.1873T>A
c.1614T>A
c.4008T>A (n.4008T>A)
c.10391T>A (p.Phe3464Tyr)
n.4320T>A
c.10520T>A (p.Phe3507Tyr)
2g.73572394T>CCA347283347ALMS1c.10136T>C (p.Phe3379Ser)
c.3222T>C
c.7417T>C
c.4583T>C (p.Phe1528Ser)
c.7462T>C
c.10517T>C (p.Phe3506Ser)
c.671T>C (p.Phe224Ser)
c.1873T>C
c.1614T>C
c.4008T>C (n.4008T>C)
c.10391T>C (p.Phe3464Ser)
n.4320T>C
c.10520T>C (p.Phe3507Ser)
2g.73572394T>GCA347283348ALMS1c.10136T>G (p.Phe3379Cys)
c.3222T>G
c.7417T>G
c.4583T>G (p.Phe1528Cys)
c.7462T>G
c.10517T>G (p.Phe3506Cys)
c.671T>G (p.Phe224Cys)
c.1873T>G
c.1614T>G
c.4008T>G (n.4008T>G)
c.10391T>G (p.Phe3464Cys)
n.4320T>G
c.10520T>G (p.Phe3507Cys)
2g.73572395C>ACA347283350ALMS1c.10137C>A (p.Phe3379Leu)
c.3223C>A
c.7418C>A
c.4584C>A (p.Phe1528Leu)
c.7463C>A
c.10518C>A (p.Phe3506Leu)
c.672C>A (p.Phe224Leu)
c.1874C>A
c.1615C>A
c.4009C>A (n.4009C>A)
c.10392C>A (p.Phe3464Leu)
n.4321C>A
c.10521C>A (p.Phe3507Leu)
2g.73572395C>GCA347283353ALMS1c.10137C>G (p.Phe3379Leu)
c.3223C>G
c.7418C>G
c.4584C>G (p.Phe1528Leu)
c.7463C>G
c.10518C>G (p.Phe3506Leu)
c.672C>G (p.Phe224Leu)
c.1874C>G
c.1615C>G
c.4009C>G (n.4009C>G)
c.10392C>G (p.Phe3464Leu)
n.4321C>G
c.10521C>G (p.Phe3507Leu)
2g.73572395C>TCA427024607ALMS1c.10137C>T (p.Phe3379=)
c.3223C>T
c.7418C>T
c.4584C>T (p.Phe1528=)
c.7463C>T
c.10518C>T (p.Phe3506=)
c.672C>T (p.Phe224=)
c.1874C>T
c.1615C>T
c.4009C>T (n.4009C>T)
c.10392C>T (p.Phe3464=)
n.4321C>T
c.10521C>T (p.Phe3507=)
2g.73572396A=CA1261021035ALMS1c.10138A= (p.Met3380=)
c.3224A=
c.7419A=
c.4585A= (p.Met1529=)
c.7464A=
c.10519A= (p.Met3507=)
c.673A= (p.Met225=)
c.1875A=
c.1616A=
c.4010A= (n.4010A=)
c.10393A= (p.Met3465=)
n.4322A=
c.10522A= (p.Met3508=)
2g.73572396A>CCA347283360ALMS1c.10138A>C (p.Met3380Leu)
c.3224A>C
c.7419A>C
c.4585A>C (p.Met1529Leu)
c.7464A>C
c.10519A>C (p.Met3507Leu)
c.673A>C (p.Met225Leu)
c.1875A>C
c.1616A>C
c.4010A>C (n.4010A>C)
c.10393A>C (p.Met3465Leu)
n.4322A>C
c.10522A>C (p.Met3508Leu)
 gnomAD v4
2g.73572396A>GCA347283356ALMS1c.10138A>G (p.Met3380Val)
c.3224A>G
c.7419A>G
c.4585A>G (p.Met1529Val)
c.7464A>G
c.10519A>G (p.Met3507Val)
c.673A>G (p.Met225Val)
c.1875A>G
c.1616A>G
c.4010A>G (n.4010A>G)
c.10393A>G (p.Met3465Val)
n.4322A>G
c.10522A>G (p.Met3508Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572396A>TCA347283358ALMS1c.10138A>T (p.Met3380Leu)
c.3224A>T
c.7419A>T
c.4585A>T (p.Met1529Leu)
c.7464A>T
c.10519A>T (p.Met3507Leu)
c.673A>T (p.Met225Leu)
c.1875A>T
c.1616A>T
c.4010A>T (n.4010A>T)
c.10393A>T (p.Met3465Leu)
n.4322A>T
c.10522A>T (p.Met3508Leu)
 gnomAD v4
2g.73572397T>ACA347283364ALMS1c.10139T>A (p.Met3380Lys)
c.3225T>A
c.7420T>A
c.4586T>A (p.Met1529Lys)
c.7465T>A
c.10520T>A (p.Met3507Lys)
c.674T>A (p.Met225Lys)
c.1876T>A
c.1617T>A
c.4011T>A (n.4011T>A)
c.10394T>A (p.Met3465Lys)
n.4323T>A
c.10523T>A (p.Met3508Lys)
2g.73572397T>CCA347283365ALMS1c.10139T>C (p.Met3380Thr)
c.3225T>C
c.7420T>C
c.4586T>C (p.Met1529Thr)
c.7465T>C
c.10520T>C (p.Met3507Thr)
c.674T>C (p.Met225Thr)
c.1876T>C
c.1617T>C
c.4011T>C (n.4011T>C)
c.10394T>C (p.Met3465Thr)
n.4323T>C
c.10523T>C (p.Met3508Thr)
2g.73572397T>GCA347283367ALMS1c.10139T>G (p.Met3380Arg)
c.3225T>G
c.7420T>G
c.4586T>G (p.Met1529Arg)
c.7465T>G
c.10520T>G (p.Met3507Arg)
c.674T>G (p.Met225Arg)
c.1876T>G
c.1617T>G
c.4011T>G (n.4011T>G)
c.10394T>G (p.Met3465Arg)
n.4323T>G
c.10523T>G (p.Met3508Arg)
2g.73572398G>ACA347283371ALMS1c.10140G>A (p.Met3380Ile)
c.3226G>A
c.7421G>A
c.4587G>A (p.Met1529Ile)
c.7466G>A
c.10521G>A (p.Met3507Ile)
c.675G>A (p.Met225Ile)
c.1877G>A
c.1618G>A
c.4012G>A (n.4012G>A)
c.10395G>A (p.Met3465Ile)
n.4324G>A
c.10524G>A (p.Met3508Ile)
2g.73572398G>CCA347283373ALMS1c.10140G>C (p.Met3380Ile)
c.3226G>C
c.7421G>C
c.4587G>C (p.Met1529Ile)
c.7466G>C
c.10521G>C (p.Met3507Ile)
c.675G>C (p.Met225Ile)
c.1877G>C
c.1618G>C
c.4012G>C (n.4012G>C)
c.10395G>C (p.Met3465Ile)
n.4324G>C
c.10524G>C (p.Met3508Ile)
2g.73572398G>TCA347283375ALMS1c.10140G>T (p.Met3380Ile)
c.3226G>T
c.7421G>T
c.4587G>T (p.Met1529Ile)
c.7466G>T
c.10521G>T (p.Met3507Ile)
c.675G>T (p.Met225Ile)
c.1877G>T
c.1618G>T
c.4012G>T (n.4012G>T)
c.10395G>T (p.Met3465Ile)
n.4324G>T
c.10524G>T (p.Met3508Ile)
2g.73572399A=CA1261021039ALMS1c.10141A= (p.Arg3381=)
c.3227A=
c.7422A=
c.4588A= (p.Arg1530=)
c.7467A=
c.10522A= (p.Arg3508=)
c.676A= (p.Arg226=)
c.1878A=
c.1619A=
c.4013A= (n.4013A=)
c.10396A= (p.Arg3466=)
n.4325A=
c.10525A= (p.Arg3509=)
2g.73572399A>CCA427024612ALMS1c.10141A>C (p.Arg3381=)
c.3227A>C
c.7422A>C
c.4588A>C (p.Arg1530=)
c.7467A>C
c.10522A>C (p.Arg3508=)
c.676A>C (p.Arg226=)
c.1878A>C
c.1619A>C
c.4013A>C (n.4013A>C)
c.10396A>C (p.Arg3466=)
n.4325A>C
c.10525A>C (p.Arg3509=)
2g.73572399A>GCA347283381ALMS1c.10141A>G (p.Arg3381Gly)
c.3227A>G
c.7422A>G
c.4588A>G (p.Arg1530Gly)
c.7467A>G
c.10522A>G (p.Arg3508Gly)
c.676A>G (p.Arg226Gly)
c.1878A>G
c.1619A>G
c.4013A>G (n.4013A>G)
c.10396A>G (p.Arg3466Gly)
n.4325A>G
c.10525A>G (p.Arg3509Gly)
 dbSNP gnomAD v2
2g.73572399A>TCA347283379ALMS1c.10141A>T (p.Arg3381Ter)
c.3227A>T
c.7422A>T
c.4588A>T (p.Arg1530Ter)
c.7467A>T
c.10522A>T (p.Arg3508Ter)
c.676A>T (p.Arg226Ter)
c.1878A>T
c.1619A>T
c.4013A>T (n.4013A>T)
c.10396A>T (p.Arg3466Ter)
n.4325A>T
c.10525A>T (p.Arg3509Ter)
2g.73572400G>ACA347283384ALMS1c.10142G>A (p.Arg3381Lys)
c.3228G>A
c.7423G>A
c.4589G>A (p.Arg1530Lys)
c.7468G>A
c.10523G>A (p.Arg3508Lys)
c.677G>A (p.Arg226Lys)
c.1879G>A
c.1620G>A
c.4014G>A (n.4014G>A)
c.10397G>A (p.Arg3466Lys)
n.4326G>A
c.10526G>A (p.Arg3509Lys)
2g.73572400G>CCA347283388ALMS1c.10142G>C (p.Arg3381Thr)
c.3228G>C
c.7423G>C
c.4589G>C (p.Arg1530Thr)
c.7468G>C
c.10523G>C (p.Arg3508Thr)
c.677G>C (p.Arg226Thr)
c.1879G>C
c.1620G>C
c.4014G>C (n.4014G>C)
c.10397G>C (p.Arg3466Thr)
n.4326G>C
c.10526G>C (p.Arg3509Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.73572400G=CA1261021043ALMS1c.10142G= (p.Arg3381=)
c.3228G=
c.7423G=
c.4589G= (p.Arg1530=)
c.7468G=
c.10523G= (p.Arg3508=)
c.677G= (p.Arg226=)
c.1879G=
c.1620G=
c.4014G= (n.4014G=)
c.10397G= (p.Arg3466=)
n.4326G=
c.10526G= (p.Arg3509=)
2g.73572400G>TCA347283385ALMS1c.10142G>T (p.Arg3381Ile)
c.3228G>T
c.7423G>T
c.4589G>T (p.Arg1530Ile)
c.7468G>T
c.10523G>T (p.Arg3508Ile)
c.677G>T (p.Arg226Ile)
c.1879G>T
c.1620G>T
c.4014G>T (n.4014G>T)
c.10397G>T (p.Arg3466Ile)
n.4326G>T
c.10526G>T (p.Arg3509Ile)
2g.73572401A>CCA347283392ALMS1c.10143A>C (p.Arg3381Ser)
c.3229A>C
c.7424A>C
c.4590A>C (p.Arg1530Ser)
c.7469A>C
c.10524A>C (p.Arg3508Ser)
c.678A>C (p.Arg226Ser)
c.1880A>C
c.1621A>C
c.4015A>C (n.4015A>C)
c.10398A>C (p.Arg3466Ser)
n.4327A>C
c.10527A>C (p.Arg3509Ser)
2g.73572401A>GCA427024617ALMS1c.10143A>G (p.Arg3381=)
c.3229A>G
c.7424A>G
c.4590A>G (p.Arg1530=)
c.7469A>G
c.10524A>G (p.Arg3508=)
c.678A>G (p.Arg226=)
c.1880A>G
c.1621A>G
c.4015A>G (n.4015A>G)
c.10398A>G (p.Arg3466=)
n.4327A>G
c.10527A>G (p.Arg3509=)
2g.73572401A>TCA347283394ALMS1c.10143A>T (p.Arg3381Ser)
c.3229A>T
c.7424A>T
c.4590A>T (p.Arg1530Ser)
c.7469A>T
c.10524A>T (p.Arg3508Ser)
c.678A>T (p.Arg226Ser)
c.1880A>T
c.1621A>T
c.4015A>T (n.4015A>T)
c.10398A>T (p.Arg3466Ser)
n.4327A>T
c.10527A>T (p.Arg3509Ser)
2g.73572402C>ACA347283398ALMS1c.10144C>A (p.His3382Asn)
c.3230C>A
c.7425C>A
c.4591C>A (p.His1531Asn)
c.7470C>A
c.10525C>A (p.His3509Asn)
c.679C>A (p.His227Asn)
c.1881C>A
c.1622C>A
c.4016C>A (n.4016C>A)
c.10399C>A (p.His3467Asn)
n.4328C>A
c.10528C>A (p.His3510Asn)
2g.73572402C>GCA347283401ALMS1c.10144C>G (p.His3382Asp)
c.3230C>G
c.7425C>G
c.4591C>G (p.His1531Asp)
c.7470C>G
c.10525C>G (p.His3509Asp)
c.679C>G (p.His227Asp)
c.1881C>G
c.1622C>G
c.4016C>G (n.4016C>G)
c.10399C>G (p.His3467Asp)
n.4328C>G
c.10528C>G (p.His3510Asp)
2g.73572402C>TCA347283403ALMS1c.10144C>T (p.His3382Tyr)
c.3230C>T
c.7425C>T
c.4591C>T (p.His1531Tyr)
c.7470C>T
c.10525C>T (p.His3509Tyr)
c.679C>T (p.His227Tyr)
c.1881C>T
c.1622C>T
c.4016C>T (n.4016C>T)
c.10399C>T (p.His3467Tyr)
n.4328C>T
c.10528C>T (p.His3510Tyr)
2g.73572403A=CA1261021048ALMS1c.10145A= (p.His3382=)
c.3231A=
c.7426A=
c.4592A= (p.His1531=)
c.7471A=
c.10526A= (p.His3509=)
c.680A= (p.His227=)
c.1882A=
c.1623A=
c.4017A= (n.4017A=)
c.10400A= (p.His3467=)
n.4329A=
c.10529A= (p.His3510=)
2g.73572403A>CCA347283407ALMS1c.10145A>C (p.His3382Pro)
c.3231A>C
c.7426A>C
c.4592A>C (p.His1531Pro)
c.7471A>C
c.10526A>C (p.His3509Pro)
c.680A>C (p.His227Pro)
c.1882A>C
c.1623A>C
c.4017A>C (n.4017A>C)
c.10400A>C (p.His3467Pro)
n.4329A>C
c.10529A>C (p.His3510Pro)
2g.73572403A>GCA347283409ALMS1c.10145A>G (p.His3382Arg)
c.3231A>G
c.7426A>G
c.4592A>G (p.His1531Arg)
c.7471A>G
c.10526A>G (p.His3509Arg)
c.680A>G (p.His227Arg)
c.1882A>G
c.1623A>G
c.4017A>G (n.4017A>G)
c.10400A>G (p.His3467Arg)
n.4329A>G
c.10529A>G (p.His3510Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572403A>TCA347283412ALMS1c.10145A>T (p.His3382Leu)
c.3231A>T
c.7426A>T
c.4592A>T (p.His1531Leu)
c.7471A>T
c.10526A>T (p.His3509Leu)
c.680A>T (p.His227Leu)
c.1882A>T
c.1623A>T
c.4017A>T (n.4017A>T)
c.10400A>T (p.His3467Leu)
n.4329A>T
c.10529A>T (p.His3510Leu)
2g.73572404T>ACA347283415ALMS1c.10146T>A (p.His3382Gln)
c.3232T>A
c.7427T>A
c.4593T>A (p.His1531Gln)
c.7472T>A
c.10527T>A (p.His3509Gln)
c.681T>A (p.His227Gln)
c.1883T>A
c.1624T>A
c.4018T>A (n.4018T>A)
c.10401T>A (p.His3467Gln)
n.4330T>A
c.10530T>A (p.His3510Gln)
2g.73572404T>CCA427024628ALMS1c.10146T>C (p.His3382=)
c.3232T>C
c.7427T>C
c.4593T>C (p.His1531=)
c.7472T>C
c.10527T>C (p.His3509=)
c.681T>C (p.His227=)
c.1883T>C
c.1624T>C
c.4018T>C (n.4018T>C)
c.10401T>C (p.His3467=)
n.4330T>C
c.10530T>C (p.His3510=)
 gnomAD v4
2g.73572404T>GCA347283417ALMS1c.10146T>G (p.His3382Gln)
c.3232T>G
c.7427T>G
c.4593T>G (p.His1531Gln)
c.7472T>G
c.10527T>G (p.His3509Gln)
c.681T>G (p.His227Gln)
c.1883T>G
c.1624T>G
c.4018T>G (n.4018T>G)
c.10401T>G (p.His3467Gln)
n.4330T>G
c.10530T>G (p.His3510Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572404T=CA1261021058ALMS1c.10146T= (p.His3382=)
c.3232T=
c.7427T=
c.4593T= (p.His1531=)
c.7472T=
c.10527T= (p.His3509=)
c.681T= (p.His227=)
c.1883T=
c.1624T=
c.4018T= (n.4018T=)
c.10401T= (p.His3467=)
n.4330T=
c.10530T= (p.His3510=)
2g.73572405dupCA892825667ALMS1c.10147dup (p.Ser3383PhefsTer14)
c.3233dup
c.7428dup
c.4594dup (p.Ser1532PhefsTer14)
c.7473dup
c.10528dup (p.Ser3510PhefsTer14)
c.682dup (p.Ser228PhefsTer14)
c.1884dup
c.1625dup
c.4019dup (n.4019dup)
c.10402dup (p.Ser3468PhefsTer14)
n.4331dup
c.10531dup (p.Ser3511PhefsTer14)
 dbSNP
2g.73572405T>ACA347283424ALMS1c.10147T>A (p.Ser3383Thr)
c.3233T>A
c.7428T>A
c.4594T>A (p.Ser1532Thr)
c.7473T>A
c.10528T>A (p.Ser3510Thr)
c.682T>A (p.Ser228Thr)
c.1884T>A
c.1625T>A
c.4019T>A (n.4019T>A)
c.10402T>A (p.Ser3468Thr)
n.4331T>A
c.10531T>A (p.Ser3511Thr)
2g.73572405T>CCA347283422ALMS1c.10147T>C (p.Ser3383Pro)
c.3233T>C
c.7428T>C
c.4594T>C (p.Ser1532Pro)
c.7473T>C
c.10528T>C (p.Ser3510Pro)
c.682T>C (p.Ser228Pro)
c.1884T>C
c.1625T>C
c.4019T>C (n.4019T>C)
c.10402T>C (p.Ser3468Pro)
n.4331T>C
c.10531T>C (p.Ser3511Pro)
2g.73572405T>GCA347283420ALMS1c.10147T>G (p.Ser3383Ala)
c.3233T>G
c.7428T>G
c.4594T>G (p.Ser1532Ala)
c.7473T>G
c.10528T>G (p.Ser3510Ala)
c.682T>G (p.Ser228Ala)
c.1884T>G
c.1625T>G
c.4019T>G (n.4019T>G)
c.10402T>G (p.Ser3468Ala)
n.4331T>G
c.10531T>G (p.Ser3511Ala)
2g.73572406C>ACA347283426ALMS1c.10148C>A (p.Ser3383Tyr)
c.3234C>A
c.7429C>A
c.4595C>A (p.Ser1532Tyr)
c.7474C>A
c.10529C>A (p.Ser3510Tyr)
c.683C>A (p.Ser228Tyr)
c.1885C>A
c.1626C>A
c.4020C>A (n.4020C>A)
c.10403C>A (p.Ser3468Tyr)
n.4332C>A
c.10532C>A (p.Ser3511Tyr)
2g.73572406C=CA1261021065ALMS1c.10148C= (p.Ser3383=)
c.3234C=
c.7429C=
c.4595C= (p.Ser1532=)
c.7474C=
c.10529C= (p.Ser3510=)
c.683C= (p.Ser228=)
c.1885C=
c.1626C=
c.4020C= (n.4020C=)
c.10403C= (p.Ser3468=)
n.4332C=
c.10532C= (p.Ser3511=)
2g.73572406C>GCA347283428ALMS1c.10148C>G (p.Ser3383Cys)
c.3234C>G
c.7429C>G
c.4595C>G (p.Ser1532Cys)
c.7474C>G
c.10529C>G (p.Ser3510Cys)
c.683C>G (p.Ser228Cys)
c.1885C>G
c.1626C>G
c.4020C>G (n.4020C>G)
c.10403C>G (p.Ser3468Cys)
n.4332C>G
c.10532C>G (p.Ser3511Cys)
2g.73572406C>TCA347283430ALMS1c.10148C>T (p.Ser3383Phe)
c.3234C>T
c.7429C>T
c.4595C>T (p.Ser1532Phe)
c.7474C>T
c.10529C>T (p.Ser3510Phe)
c.683C>T (p.Ser228Phe)
c.1885C>T
c.1626C>T
c.4020C>T (n.4020C>T)
c.10403C>T (p.Ser3468Phe)
n.4332C>T
c.10532C>T (p.Ser3511Phe)
2g.73572407T>ACA427024640ALMS1c.10149T>A (p.Ser3383=)
c.3235T>A
c.7430T>A
c.4596T>A (p.Ser1532=)
c.7475T>A
c.10530T>A (p.Ser3510=)
c.684T>A (p.Ser228=)
c.1886T>A
c.1627T>A
c.4021T>A (n.4021T>A)
c.10404T>A (p.Ser3468=)
n.4333T>A
c.10533T>A (p.Ser3511=)
2g.73572407T>CCA427024636ALMS1c.10149T>C (p.Ser3383=)
c.3235T>C
c.7430T>C
c.4596T>C (p.Ser1532=)
c.7475T>C
c.10530T>C (p.Ser3510=)
c.684T>C (p.Ser228=)
c.1886T>C
c.1627T>C
c.4021T>C (n.4021T>C)
c.10404T>C (p.Ser3468=)
n.4333T>C
c.10533T>C (p.Ser3511=)
2g.73572407T>GCA427024635ALMS1c.10149T>G (p.Ser3383=)
c.3235T>G
c.7430T>G
c.4596T>G (p.Ser1532=)
c.7475T>G
c.10530T>G (p.Ser3510=)
c.684T>G (p.Ser228=)
c.1886T>G
c.1627T>G
c.4021T>G (n.4021T>G)
c.10404T>G (p.Ser3468=)
n.4333T>G
c.10533T>G (p.Ser3511=)
2g.73572407T=CA1261021073ALMS1c.10149T= (p.Ser3383=)
c.3235T=
c.7430T=
c.4596T= (p.Ser1532=)
c.7475T=
c.10530T= (p.Ser3510=)
c.684T= (p.Ser228=)
c.1886T=
c.1627T=
c.4021T= (n.4021T=)
c.10404T= (p.Ser3468=)
n.4333T=
c.10533T= (p.Ser3511=)
2g.73572407_73572408insGGAATGTCTTTCCAAGATTCA2573135801ALMS1c.10149_10150insGGAATGTCTTTCCAAGATT (p.Trp3384GlyfsTer19)
c.3235_3236insGGAATGTCTTTCCAAGATT
c.7430_7431insGGAATGTCTTTCCAAGATT
c.4596_4597insGGAATGTCTTTCCAAGATT (p.Trp1533GlyfsTer19)
c.7475_7476insGGAATGTCTTTCCAAGATT
c.10530_10531insGGAATGTCTTTCCAAGATT (p.Trp3511GlyfsTer19)
c.684_685insGGAATGTCTTTCCAAGATT (p.Trp229GlyfsTer19)
c.1886_1887insGGAATGTCTTTCCAAGATT
c.1627_1628insGGAATGTCTTTCCAAGATT
c.4021_4022insGGAATGTCTTTCCAAGATT (n.4021_4022insGGAATGTCTTTCCAAGATT)
c.10404_10405insGGAATGTCTTTCCAAGATT (p.Trp3469GlyfsTer19)
n.4333_4334insGGAATGTCTTTCCAAGATT
c.10533_10534insGGAATGTCTTTCCAAGATT (p.Trp3512GlyfsTer19)
 ClinVar dbSNP
2g.73572407_73572408insGTCTTTCCAAGATTGGAATCA2695200831ALMS1c.10149_10150insGTCTTTCCAAGATTGGAAT (p.Trp3384ValfsTer19)
c.3235_3236insGTCTTTCCAAGATTGGAAT
c.7430_7431insGTCTTTCCAAGATTGGAAT
c.4596_4597insGTCTTTCCAAGATTGGAAT (p.Trp1533ValfsTer19)
c.7475_7476insGTCTTTCCAAGATTGGAAT
c.10530_10531insGTCTTTCCAAGATTGGAAT (p.Trp3511ValfsTer19)
c.684_685insGTCTTTCCAAGATTGGAAT (p.Trp229ValfsTer19)
c.1886_1887insGTCTTTCCAAGATTGGAAT
c.1627_1628insGTCTTTCCAAGATTGGAAT
c.4021_4022insGTCTTTCCAAGATTGGAAT (n.4021_4022insGTCTTTCCAAGATTGGAAT)
c.10404_10405insGTCTTTCCAAGATTGGAAT (p.Trp3469ValfsTer19)
n.4333_4334insGTCTTTCCAAGATTGGAAT
c.10533_10534insGTCTTTCCAAGATTGGAAT (p.Trp3512ValfsTer19)
 ClinVar
2g.73572412_73572413insTGTCTTTCCAAGATTGGAACA534124637ALMS1c.10154_10155insTGTCTTTCCAAGATTGGAA (p.Lys3385AsnfsTer18)
c.3240_3241insTGTCTTTCCAAGATTGGAA
c.7435_7436insTGTCTTTCCAAGATTGGAA
c.4601_4602insTGTCTTTCCAAGATTGGAA (p.Lys1534AsnfsTer18)
c.7480_7481insTGTCTTTCCAAGATTGGAA
c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512AsnfsTer18)
c.689_690insTGTCTTTCCAAGATTGGAA (p.Lys230AsnfsTer18)
c.1891_1892insTGTCTTTCCAAGATTGGAA
c.1632_1633insTGTCTTTCCAAGATTGGAA
c.4026_4027insTGTCTTTCCAAGATTGGAA (n.4026_4027insTGTCTTTCCAAGATTGGAA)
c.10409_10410insTGTCTTTCCAAGATTGGAA (p.Lys3470AsnfsTer18)
n.4338_4339insTGTCTTTCCAAGATTGGAA
c.10538_10539insTGTCTTTCCAAGATTGGAA (p.Lys3513AsnfsTer18)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572407_73572408insCCA1261021091ALMS1c.10149_10150insC (p.Trp3384LeufsTer13)
c.3235_3236insC
c.7430_7431insC
c.4596_4597insC (p.Trp1533LeufsTer13)
c.7475_7476insC
c.10530_10531insC (p.Trp3511LeufsTer13)
c.684_685insC (p.Trp229LeufsTer13)
c.1886_1887insC
c.1627_1628insC
c.4021_4022insC (n.4021_4022insC)
c.10404_10405insC (p.Trp3469LeufsTer13)
n.4333_4334insC
c.10533_10534insC (p.Trp3512LeufsTer13)
 dbSNP
2g.73572408T>ACA347283434ALMS1c.10150T>A (p.Trp3384Arg)
c.3236T>A
c.7431T>A
c.4597T>A (p.Trp1533Arg)
c.7476T>A
c.10531T>A (p.Trp3511Arg)
c.685T>A (p.Trp229Arg)
c.1887T>A
c.1628T>A
c.4022T>A (n.4022T>A)
c.10405T>A (p.Trp3469Arg)
n.4334T>A
c.10534T>A (p.Trp3512Arg)
2g.73572408T>CCA347283436ALMS1c.10150T>C (p.Trp3384Arg)
c.3236T>C
c.7431T>C
c.4597T>C (p.Trp1533Arg)
c.7476T>C
c.10531T>C (p.Trp3511Arg)
c.685T>C (p.Trp229Arg)
c.1887T>C
c.1628T>C
c.4022T>C (n.4022T>C)
c.10405T>C (p.Trp3469Arg)
n.4334T>C
c.10534T>C (p.Trp3512Arg)
2g.73572408T>GCA347283438ALMS1c.10150T>G (p.Trp3384Gly)
c.3236T>G
c.7431T>G
c.4597T>G (p.Trp1533Gly)
c.7476T>G
c.10531T>G (p.Trp3511Gly)
c.685T>G (p.Trp229Gly)
c.1887T>G
c.1628T>G
c.4022T>G (n.4022T>G)
c.10405T>G (p.Trp3469Gly)
n.4334T>G
c.10534T>G (p.Trp3512Gly)
2g.73572409G>ACA347283439ALMS1c.10151G>A (p.Trp3384Ter)
c.3237G>A
c.7432G>A
c.4598G>A (p.Trp1533Ter)
c.7477G>A
c.10532G>A (p.Trp3511Ter)
c.686G>A (p.Trp229Ter)
c.1888G>A
c.1629G>A
c.4023G>A (n.4023G>A)
c.10406G>A (p.Trp3469Ter)
n.4335G>A
c.10535G>A (p.Trp3512Ter)
 dbSNP gnomAD v4
2g.73572409G>CCA347283441ALMS1c.10151G>C (p.Trp3384Ser)
c.3237G>C
c.7432G>C
c.4598G>C (p.Trp1533Ser)
c.7477G>C
c.10532G>C (p.Trp3511Ser)
c.686G>C (p.Trp229Ser)
c.1888G>C
c.1629G>C
c.4023G>C (n.4023G>C)
c.10406G>C (p.Trp3469Ser)
n.4335G>C
c.10535G>C (p.Trp3512Ser)
2g.73572409G>TCA347283442ALMS1c.10151G>T (p.Trp3384Leu)
c.3237G>T
c.7432G>T
c.4598G>T (p.Trp1533Leu)
c.7477G>T
c.10532G>T (p.Trp3511Leu)
c.686G>T (p.Trp229Leu)
c.1888G>T
c.1629G>T
c.4023G>T (n.4023G>T)
c.10406G>T (p.Trp3469Leu)
n.4335G>T
c.10535G>T (p.Trp3512Leu)
2g.73572410G>ACA347283444ALMS1c.10152G>A (p.Trp3384Ter)
c.3238G>A
c.7433G>A
c.4599G>A (p.Trp1533Ter)
c.7478G>A
c.10533G>A (p.Trp3511Ter)
c.687G>A (p.Trp229Ter)
c.1889G>A
c.1630G>A
c.4024G>A (n.4024G>A)
c.10407G>A (p.Trp3469Ter)
n.4336G>A
c.10536G>A (p.Trp3512Ter)
2g.73572410G>CCA347283446ALMS1c.10152G>C (p.Trp3384Cys)
c.3238G>C
c.7433G>C
c.4599G>C (p.Trp1533Cys)
c.7478G>C
c.10533G>C (p.Trp3511Cys)
c.687G>C (p.Trp229Cys)
c.1889G>C
c.1630G>C
c.4024G>C (n.4024G>C)
c.10407G>C (p.Trp3469Cys)
n.4336G>C
c.10536G>C (p.Trp3512Cys)
2g.73572410G=CA1261021098ALMS1c.10152G= (p.Trp3384=)
c.3238G=
c.7433G=
c.4599G= (p.Trp1533=)
c.7478G=
c.10533G= (p.Trp3511=)
c.687G= (p.Trp229=)
c.1889G=
c.1630G=
c.4024G= (n.4024G=)
c.10407G= (p.Trp3469=)
n.4336G=
c.10536G= (p.Trp3512=)
2g.73572410G>TCA1715017ALMS1c.10152G>T (p.Trp3384Cys)
c.3238G>T
c.7433G>T
c.4599G>T (p.Trp1533Cys)
c.7478G>T
c.10533G>T (p.Trp3511Cys)
c.687G>T (p.Trp229Cys)
c.1889G>T
c.1630G>T
c.4024G>T (n.4024G>T)
c.10407G>T (p.Trp3469Cys)
n.4336G>T
c.10536G>T (p.Trp3512Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572411A>CCA347283453ALMS1c.10153A>C (p.Lys3385Gln)
c.3239A>C
c.7434A>C
c.4600A>C (p.Lys1534Gln)
c.7479A>C
c.10534A>C (p.Lys3512Gln)
c.688A>C (p.Lys230Gln)
c.1890A>C
c.1631A>C
c.4025A>C (n.4025A>C)
c.10408A>C (p.Lys3470Gln)
n.4337A>C
c.10537A>C (p.Lys3513Gln)
2g.73572411A>GCA347283455ALMS1c.10153A>G (p.Lys3385Glu)
c.3239A>G
c.7434A>G
c.4600A>G (p.Lys1534Glu)
c.7479A>G
c.10534A>G (p.Lys3512Glu)
c.688A>G (p.Lys230Glu)
c.1890A>G
c.1631A>G
c.4025A>G (n.4025A>G)
c.10408A>G (p.Lys3470Glu)
n.4337A>G
c.10537A>G (p.Lys3513Glu)
 ClinVar gnomAD v4
2g.73572411A>TCA347283451ALMS1c.10153A>T (p.Lys3385Ter)
c.3239A>T
c.7434A>T
c.4600A>T (p.Lys1534Ter)
c.7479A>T
c.10534A>T (p.Lys3512Ter)
c.688A>T (p.Lys230Ter)
c.1890A>T
c.1631A>T
c.4025A>T (n.4025A>T)
c.10408A>T (p.Lys3470Ter)
n.4337A>T
c.10537A>T (p.Lys3513Ter)
2g.73572412A>CCA347283458ALMS1c.10154A>C (p.Lys3385Thr)
c.3240A>C
c.7435A>C
c.4601A>C (p.Lys1534Thr)
c.7480A>C
c.10535A>C (p.Lys3512Thr)
c.689A>C (p.Lys230Thr)
c.1891A>C
c.1632A>C
c.4026A>C (n.4026A>C)
c.10409A>C (p.Lys3470Thr)
n.4338A>C
c.10538A>C (p.Lys3513Thr)
2g.73572412A>GCA347283460ALMS1c.10154A>G (p.Lys3385Arg)
c.3240A>G
c.7435A>G
c.4601A>G (p.Lys1534Arg)
c.7480A>G
c.10535A>G (p.Lys3512Arg)
c.689A>G (p.Lys230Arg)
c.1891A>G
c.1632A>G
c.4026A>G (n.4026A>G)
c.10409A>G (p.Lys3470Arg)
n.4338A>G
c.10538A>G (p.Lys3513Arg)
2g.73572412A>TCA347283462ALMS1c.10154A>T (p.Lys3385Ile)
c.3240A>T
c.7435A>T
c.4601A>T (p.Lys1534Ile)
c.7480A>T
c.10535A>T (p.Lys3512Ile)
c.689A>T (p.Lys230Ile)
c.1891A>T
c.1632A>T
c.4026A>T (n.4026A>T)
c.10409A>T (p.Lys3470Ile)
n.4338A>T
c.10538A>T (p.Lys3513Ile)
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)

Number of alleles fetched