Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73572669_73572673delinsTTGAACA1261021559ALMS1c.10411_10415delinsTTGAA (p.Leu3471=)
c.3497_3501delinsTTGAA
c.7692_7696delinsTTGAA
c.4858_4862delinsTTGAA (p.Leu1620=)
c.7737_7741delinsTTGAA
c.10792_10796delinsTTGAA (p.Leu3598=)
c.946_950delinsTTGAA (p.Leu316=)
c.2148_2152delinsTTGAA
c.180_184delinsTTGAA
c.1889_1893delinsTTGAA
c.4283_4287delinsTTGAA (n.4283_4287delinsTTGAA)
c.10666_10670delinsTTGAA (p.Leu3556=)
n.4595_4599delinsTTGAA
c.10795_10799delinsTTGAA (p.Leu3599=)
2g.73572670_73572674delCA913090899ALMS1c.10412_10416del (p.Leu3471Ter)
c.3498_3502del
c.7693_7697del
c.4859_4863del (p.Leu1620Ter)
c.7738_7742del
c.10793_10797del (p.Leu3598Ter)
c.947_951del (p.Leu316Ter)
c.2149_2153del
c.181_185del
c.1890_1894del
c.4284_4288del (n.4284_4288del)
c.10667_10671del (p.Leu3556Ter)
n.4596_4600del
c.10796_10800del (p.Leu3599Ter)
2g.73572674_73572677delCA658822831ALMS1c.10416_10419del (p.Glu3473CysfsTer?)
c.3502_3505del
c.7697_7700del
c.4863_4866del (p.Glu1622CysfsTer?)
c.7742_7745del
c.10797_10800del (p.Glu3600CysfsTer?)
c.951_954del (p.Glu318CysfsTer?)
c.2153_2156del
c.185_188del
c.1894_1897del
c.4288_4291del (n.4288_4291del)
c.10671_10674del (p.Glu3558CysfsTer?)
n.4600_4603del
c.10800_10803del (p.Glu3601CysfsTer?)
 ClinVar dbSNP
2g.73572673A>CCA347285547ALMS1c.10415A>C (p.Asn3472Thr)
c.3501A>C
c.7696A>C
c.4862A>C (p.Asn1621Thr)
c.7741A>C
c.10796A>C (p.Asn3599Thr)
c.950A>C (p.Asn317Thr)
c.2152A>C
c.184A>C
c.1893A>C
c.4287A>C (n.4287A>C)
c.10670A>C (p.Asn3557Thr)
n.4599A>C
c.10799A>C (p.Asn3600Thr)
2g.73572673A>GCA347285552ALMS1c.10415A>G (p.Asn3472Ser)
c.3501A>G
c.7696A>G
c.4862A>G (p.Asn1621Ser)
c.7741A>G
c.10796A>G (p.Asn3599Ser)
c.950A>G (p.Asn317Ser)
c.2152A>G
c.184A>G
c.1893A>G
c.4287A>G (n.4287A>G)
c.10670A>G (p.Asn3557Ser)
n.4599A>G
c.10799A>G (p.Asn3600Ser)
2g.73572673A>TCA347285550ALMS1c.10415A>T (p.Asn3472Ile)
c.3501A>T
c.7696A>T
c.4862A>T (p.Asn1621Ile)
c.7741A>T
c.10796A>T (p.Asn3599Ile)
c.950A>T (p.Asn317Ile)
c.2152A>T
c.184A>T
c.1893A>T
c.4287A>T (n.4287A>T)
c.10670A>T (p.Asn3557Ile)
n.4599A>T
c.10799A>T (p.Asn3600Ile)
2g.73572674T>ACA347285555ALMS1c.10416T>A (p.Asn3472Lys)
c.3502T>A
c.7697T>A
c.4863T>A (p.Asn1621Lys)
c.7742T>A
c.10797T>A (p.Asn3599Lys)
c.951T>A (p.Asn317Lys)
c.2153T>A
c.185T>A
c.1894T>A
c.4288T>A (n.4288T>A)
c.10671T>A (p.Asn3557Lys)
n.4600T>A
c.10800T>A (p.Asn3600Lys)
2g.73572674T>CCA427024532ALMS1c.10416T>C (p.Asn3472=)
c.3502T>C
c.7697T>C
c.4863T>C (p.Asn1621=)
c.7742T>C
c.10797T>C (p.Asn3599=)
c.951T>C (p.Asn317=)
c.2153T>C
c.185T>C
c.1894T>C
c.4288T>C (n.4288T>C)
c.10671T>C (p.Asn3557=)
n.4600T>C
c.10800T>C (p.Asn3600=)
 ClinVar dbSNP
2g.73572674T>GCA347285557ALMS1c.10416T>G (p.Asn3472Lys)
c.3502T>G
c.7697T>G
c.4863T>G (p.Asn1621Lys)
c.7742T>G
c.10797T>G (p.Asn3599Lys)
c.951T>G (p.Asn317Lys)
c.2153T>G
c.185T>G
c.1894T>G
c.4288T>G (n.4288T>G)
c.10671T>G (p.Asn3557Lys)
n.4600T>G
c.10800T>G (p.Asn3600Lys)
2g.73572675G>ACA347285560ALMS1c.10417G>A (p.Glu3473Lys)
c.3503G>A
c.7698G>A
c.4864G>A (p.Glu1622Lys)
c.7743G>A
c.10798G>A (p.Glu3600Lys)
c.952G>A (p.Glu318Lys)
c.2154G>A
c.186G>A
c.1895G>A
c.4289G>A (n.4289G>A)
c.10672G>A (p.Glu3558Lys)
n.4601G>A
c.10801G>A (p.Glu3601Lys)
 gnomAD v4
2g.73572675G>CCA347285562ALMS1c.10417G>C (p.Glu3473Gln)
c.3503G>C
c.7698G>C
c.4864G>C (p.Glu1622Gln)
c.7743G>C
c.10798G>C (p.Glu3600Gln)
c.952G>C (p.Glu318Gln)
c.2154G>C
c.186G>C
c.1895G>C
c.4289G>C (n.4289G>C)
c.10672G>C (p.Glu3558Gln)
n.4601G>C
c.10801G>C (p.Glu3601Gln)
2g.73572675G>TCA347285564ALMS1c.10417G>T (p.Glu3473Ter)
c.3503G>T
c.7698G>T
c.4864G>T (p.Glu1622Ter)
c.7743G>T
c.10798G>T (p.Glu3600Ter)
c.952G>T (p.Glu318Ter)
c.2154G>T
c.186G>T
c.1895G>T
c.4289G>T (n.4289G>T)
c.10672G>T (p.Glu3558Ter)
n.4601G>T
c.10801G>T (p.Glu3601Ter)
 ClinVar
2g.73572676A>CCA347285567ALMS1c.10418A>C (p.Glu3473Ala)
c.3504A>C
c.7699A>C
c.4865A>C (p.Glu1622Ala)
c.7744A>C
c.10799A>C (p.Glu3600Ala)
c.953A>C (p.Glu318Ala)
c.2155A>C
c.187A>C
c.1896A>C
c.4290A>C (n.4290A>C)
c.10673A>C (p.Glu3558Ala)
n.4602A>C
c.10802A>C (p.Glu3601Ala)
2g.73572676A>GCA347285570ALMS1c.10418A>G (p.Glu3473Gly)
c.3504A>G
c.7699A>G
c.4865A>G (p.Glu1622Gly)
c.7744A>G
c.10799A>G (p.Glu3600Gly)
c.953A>G (p.Glu318Gly)
c.2155A>G
c.187A>G
c.1896A>G
c.4290A>G (n.4290A>G)
c.10673A>G (p.Glu3558Gly)
n.4602A>G
c.10802A>G (p.Glu3601Gly)
2g.73572676A>TCA347285572ALMS1c.10418A>T (p.Glu3473Val)
c.3504A>T
c.7699A>T
c.4865A>T (p.Glu1622Val)
c.7744A>T
c.10799A>T (p.Glu3600Val)
c.953A>T (p.Glu318Val)
c.2155A>T
c.187A>T
c.1896A>T
c.4290A>T (n.4290A>T)
c.10673A>T (p.Glu3558Val)
n.4602A>T
c.10802A>T (p.Glu3601Val)
 gnomAD v4
2g.73572677A>CCA347285575ALMS1c.10419A>C (p.Glu3473Asp)
c.3505A>C
c.7700A>C
c.4866A>C (p.Glu1622Asp)
c.7745A>C
c.10800A>C (p.Glu3600Asp)
c.954A>C (p.Glu318Asp)
c.2156A>C
c.188A>C
c.1897A>C
c.4291A>C (n.4291A>C)
c.10674A>C (p.Glu3558Asp)
n.4603A>C
c.10803A>C (p.Glu3601Asp)
2g.73572677A>GCA427024538ALMS1c.10419A>G (p.Glu3473=)
c.3505A>G
c.7700A>G
c.4866A>G (p.Glu1622=)
c.7745A>G
c.10800A>G (p.Glu3600=)
c.954A>G (p.Glu318=)
c.2156A>G
c.188A>G
c.1897A>G
c.4291A>G (n.4291A>G)
c.10674A>G (p.Glu3558=)
n.4603A>G
c.10803A>G (p.Glu3601=)
 gnomAD v4
2g.73572677A>TCA347285577ALMS1c.10419A>T (p.Glu3473Asp)
c.3505A>T
c.7700A>T
c.4866A>T (p.Glu1622Asp)
c.7745A>T
c.10800A>T (p.Glu3600Asp)
c.954A>T (p.Glu318Asp)
c.2156A>T
c.188A>T
c.1897A>T
c.4291A>T (n.4291A>T)
c.10674A>T (p.Glu3558Asp)
n.4603A>T
c.10803A>T (p.Glu3601Asp)
2g.73572678C>ACA347285580ALMS1c.10420C>A (p.Leu3474Met)
c.3506C>A
c.7701C>A
c.4867C>A (p.Leu1623Met)
c.7746C>A
c.10801C>A (p.Leu3601Met)
c.955C>A (p.Leu319Met)
c.2157C>A
c.189C>A
c.1898C>A
c.4292C>A (n.4292C>A)
c.10675C>A (p.Leu3559Met)
n.4604C>A
c.10804C>A (p.Leu3602Met)
2g.73572678C=CA1261021571ALMS1c.10420C= (p.Leu3474=)
c.3506C=
c.7701C=
c.4867C= (p.Leu1623=)
c.7746C=
c.10801C= (p.Leu3601=)
c.955C= (p.Leu319=)
c.2157C=
c.189C=
c.1898C=
c.4292C= (n.4292C=)
c.10675C= (p.Leu3559=)
n.4604C=
c.10804C= (p.Leu3602=)
2g.73572678C>GCA1715061ALMS1c.10420C>G (p.Leu3474Val)
c.3506C>G
c.7701C>G
c.4867C>G (p.Leu1623Val)
c.7746C>G
c.10801C>G (p.Leu3601Val)
c.955C>G (p.Leu319Val)
c.2157C>G
c.189C>G
c.1898C>G
c.4292C>G (n.4292C>G)
c.10675C>G (p.Leu3559Val)
n.4604C>G
c.10804C>G (p.Leu3602Val)
 dbSNP ExAC gnomAD v2
2g.73572678C>TCA427024543ALMS1c.10420C>T (p.Leu3474=)
c.3506C>T
c.7701C>T
c.4867C>T (p.Leu1623=)
c.7746C>T
c.10801C>T (p.Leu3601=)
c.955C>T (p.Leu319=)
c.2157C>T
c.189C>T
c.1898C>T
c.4292C>T (n.4292C>T)
c.10675C>T (p.Leu3559=)
n.4604C>T
c.10804C>T (p.Leu3602=)
2g.73572679delCA2659617194ALMS1c.10421del (p.Leu3474ArgfsTer?)
c.3507del
c.7702del
c.4868del (p.Leu1623ArgfsTer?)
c.7747del
c.10802del (p.Leu3601ArgfsTer?)
c.956del (p.Leu319ArgfsTer?)
c.2158del
c.190del
c.1899del
c.4293del (n.4293del)
c.10676del (p.Leu3559ArgfsTer?)
n.4605del
c.10805del (p.Leu3602ArgfsTer?)
 gnomAD v4
2g.73572679T>ACA347285590ALMS1c.10421T>A (p.Leu3474Gln)
c.3507T>A
c.7702T>A
c.4868T>A (p.Leu1623Gln)
c.7747T>A
c.10802T>A (p.Leu3601Gln)
c.956T>A (p.Leu319Gln)
c.2158T>A
c.190T>A
c.1899T>A
c.4293T>A (n.4293T>A)
c.10676T>A (p.Leu3559Gln)
n.4605T>A
c.10805T>A (p.Leu3602Gln)
2g.73572679T>CCA347285587ALMS1c.10421T>C (p.Leu3474Pro)
c.3507T>C
c.7702T>C
c.4868T>C (p.Leu1623Pro)
c.7747T>C
c.10802T>C (p.Leu3601Pro)
c.956T>C (p.Leu319Pro)
c.2158T>C
c.190T>C
c.1899T>C
c.4293T>C (n.4293T>C)
c.10676T>C (p.Leu3559Pro)
n.4605T>C
c.10805T>C (p.Leu3602Pro)
2g.73572679T>GCA347285585ALMS1c.10421T>G (p.Leu3474Arg)
c.3507T>G
c.7702T>G
c.4868T>G (p.Leu1623Arg)
c.7747T>G
c.10802T>G (p.Leu3601Arg)
c.956T>G (p.Leu319Arg)
c.2158T>G
c.190T>G
c.1899T>G
c.4293T>G (n.4293T>G)
c.10676T>G (p.Leu3559Arg)
n.4605T>G
c.10805T>G (p.Leu3602Arg)
2g.73572680G>ACA427024546ALMS1c.10422G>A (p.Leu3474=)
c.3508G>A
c.7703G>A
c.4869G>A (p.Leu1623=)
c.7748G>A
c.10803G>A (p.Leu3601=)
c.957G>A (p.Leu319=)
c.2159G>A
c.191G>A
c.1900G>A
c.4294G>A (n.4294G>A)
c.10677G>A (p.Leu3559=)
n.4606G>A
c.10806G>A (p.Leu3602=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572680G>CCA427024547ALMS1c.10422G>C (p.Leu3474=)
c.3508G>C
c.7703G>C
c.4869G>C (p.Leu1623=)
c.7748G>C
c.10803G>C (p.Leu3601=)
c.957G>C (p.Leu319=)
c.2159G>C
c.191G>C
c.1900G>C
c.4294G>C (n.4294G>C)
c.10677G>C (p.Leu3559=)
n.4606G>C
c.10806G>C (p.Leu3602=)
2g.73572680G=CA1261021573ALMS1c.10422G= (p.Leu3474=)
c.3508G=
c.7703G=
c.4869G= (p.Leu1623=)
c.7748G=
c.10803G= (p.Leu3601=)
c.957G= (p.Leu319=)
c.2159G=
c.191G=
c.1900G=
c.4294G= (n.4294G=)
c.10677G= (p.Leu3559=)
n.4606G=
c.10806G= (p.Leu3602=)
2g.73572680G>TCA427024548ALMS1c.10422G>T (p.Leu3474=)
c.3508G>T
c.7703G>T
c.4869G>T (p.Leu1623=)
c.7748G>T
c.10803G>T (p.Leu3601=)
c.957G>T (p.Leu319=)
c.2159G>T
c.191G>T
c.1900G>T
c.4294G>T (n.4294G>T)
c.10677G>T (p.Leu3559=)
n.4606G>T
c.10806G>T (p.Leu3602=)
2g.73572681delCA2659617195ALMS1c.10423del (p.Trp3475GlyfsTer?)
c.3509del
c.7704del
c.4870del (p.Trp1624GlyfsTer?)
c.7749del
c.10804del (p.Trp3602GlyfsTer?)
c.958del (p.Trp320GlyfsTer?)
c.2160del
c.192del
c.1901del
c.4295del (n.4295del)
c.10678del (p.Trp3560GlyfsTer?)
n.4607del
c.10807del (p.Trp3603GlyfsTer?)
 gnomAD v4
2g.73572681T>ACA347285593ALMS1c.10423T>A (p.Trp3475Arg)
c.3509T>A
c.7704T>A
c.4870T>A (p.Trp1624Arg)
c.7749T>A
c.10804T>A (p.Trp3602Arg)
c.958T>A (p.Trp320Arg)
c.2160T>A
c.192T>A
c.1901T>A
c.4295T>A (n.4295T>A)
c.10678T>A (p.Trp3560Arg)
n.4607T>A
c.10807T>A (p.Trp3603Arg)
2g.73572681T>CCA347285597ALMS1c.10423T>C (p.Trp3475Arg)
c.3509T>C
c.7704T>C
c.4870T>C (p.Trp1624Arg)
c.7749T>C
c.10804T>C (p.Trp3602Arg)
c.958T>C (p.Trp320Arg)
c.2160T>C
c.192T>C
c.1901T>C
c.4295T>C (n.4295T>C)
c.10678T>C (p.Trp3560Arg)
n.4607T>C
c.10807T>C (p.Trp3603Arg)
2g.73572681T>GCA347285595ALMS1c.10423T>G (p.Trp3475Gly)
c.3509T>G
c.7704T>G
c.4870T>G (p.Trp1624Gly)
c.7749T>G
c.10804T>G (p.Trp3602Gly)
c.958T>G (p.Trp320Gly)
c.2160T>G
c.192T>G
c.1901T>G
c.4295T>G (n.4295T>G)
c.10678T>G (p.Trp3560Gly)
n.4607T>G
c.10807T>G (p.Trp3603Gly)
2g.73572682G>ACA347285601ALMS1c.10424G>A (p.Trp3475Ter)
c.3510G>A
c.7705G>A
c.4871G>A (p.Trp1624Ter)
c.7750G>A
c.10805G>A (p.Trp3602Ter)
c.959G>A (p.Trp320Ter)
c.2161G>A
c.193G>A
c.1902G>A
c.4296G>A (n.4296G>A)
c.10679G>A (p.Trp3560Ter)
n.4608G>A
c.10808G>A (p.Trp3603Ter)
 gnomAD v4
2g.73572682G>CCA347285603ALMS1c.10424G>C (p.Trp3475Ser)
c.3510G>C
c.7705G>C
c.4871G>C (p.Trp1624Ser)
c.7750G>C
c.10805G>C (p.Trp3602Ser)
c.959G>C (p.Trp320Ser)
c.2161G>C
c.193G>C
c.1902G>C
c.4296G>C (n.4296G>C)
c.10679G>C (p.Trp3560Ser)
n.4608G>C
c.10808G>C (p.Trp3603Ser)
2g.73572682G>TCA347285602ALMS1c.10424G>T (p.Trp3475Leu)
c.3510G>T
c.7705G>T
c.4871G>T (p.Trp1624Leu)
c.7750G>T
c.10805G>T (p.Trp3602Leu)
c.959G>T (p.Trp320Leu)
c.2161G>T
c.193G>T
c.1902G>T
c.4296G>T (n.4296G>T)
c.10679G>T (p.Trp3560Leu)
n.4608G>T
c.10808G>T (p.Trp3603Leu)
2g.73572683G>ACA347285604ALMS1c.10425G>A (p.Trp3475Ter)
c.3511G>A
c.7706G>A
c.4872G>A (p.Trp1624Ter)
c.7751G>A
c.10806G>A (p.Trp3602Ter)
c.960G>A (p.Trp320Ter)
c.2162G>A
c.194G>A
c.1903G>A
c.4297G>A (n.4297G>A)
c.10680G>A (p.Trp3560Ter)
n.4609G>A
c.10809G>A (p.Trp3603Ter)
2g.73572683G>CCA347285605ALMS1c.10425G>C (p.Trp3475Cys)
c.3511G>C
c.7706G>C
c.4872G>C (p.Trp1624Cys)
c.7751G>C
c.10806G>C (p.Trp3602Cys)
c.960G>C (p.Trp320Cys)
c.2162G>C
c.194G>C
c.1903G>C
c.4297G>C (n.4297G>C)
c.10680G>C (p.Trp3560Cys)
n.4609G>C
c.10809G>C (p.Trp3603Cys)
 dbSNP
2g.73572683G=CA1261021583ALMS1c.10425G= (p.Trp3475=)
c.3511G=
c.7706G=
c.4872G= (p.Trp1624=)
c.7751G=
c.10806G= (p.Trp3602=)
c.960G= (p.Trp320=)
c.2162G=
c.194G=
c.1903G=
c.4297G= (n.4297G=)
c.10680G= (p.Trp3560=)
n.4609G=
c.10809G= (p.Trp3603=)
2g.73572683G>TCA347285606ALMS1c.10425G>T (p.Trp3475Cys)
c.3511G>T
c.7706G>T
c.4872G>T (p.Trp1624Cys)
c.7751G>T
c.10806G>T (p.Trp3602Cys)
c.960G>T (p.Trp320Cys)
c.2162G>T
c.194G>T
c.1903G>T
c.4297G>T (n.4297G>T)
c.10680G>T (p.Trp3560Cys)
n.4609G>T
c.10809G>T (p.Trp3603Cys)
2g.73572684A>CCA347285610ALMS1c.10426A>C (p.Asn3476His)
c.3512A>C
c.7707A>C
c.4873A>C (p.Asn1625His)
c.7752A>C
c.10807A>C (p.Asn3603His)
c.961A>C (p.Asn321His)
c.2163A>C
c.195A>C
c.1904A>C
c.4298A>C (n.4298A>C)
c.10681A>C (p.Asn3561His)
n.4610A>C
c.10810A>C (p.Asn3604His)
2g.73572684A>GCA347285611ALMS1c.10426A>G (p.Asn3476Asp)
c.3512A>G
c.7707A>G
c.4873A>G (p.Asn1625Asp)
c.7752A>G
c.10807A>G (p.Asn3603Asp)
c.961A>G (p.Asn321Asp)
c.2163A>G
c.195A>G
c.1904A>G
c.4298A>G (n.4298A>G)
c.10681A>G (p.Asn3561Asp)
n.4610A>G
c.10810A>G (p.Asn3604Asp)
2g.73572684A>TCA347285613ALMS1c.10426A>T (p.Asn3476Tyr)
c.3512A>T
c.7707A>T
c.4873A>T (p.Asn1625Tyr)
c.7752A>T
c.10807A>T (p.Asn3603Tyr)
c.961A>T (p.Asn321Tyr)
c.2163A>T
c.195A>T
c.1904A>T
c.4298A>T (n.4298A>T)
c.10681A>T (p.Asn3561Tyr)
n.4610A>T
c.10810A>T (p.Asn3604Tyr)
2g.73572685A=CA1261021588ALMS1c.10427A= (p.Asn3476=)
c.3513A=
c.7708A=
c.4874A= (p.Asn1625=)
c.7753A=
c.10808A= (p.Asn3603=)
c.962A= (p.Asn321=)
c.2164A=
c.196A=
c.1905A=
c.4299A= (n.4299A=)
c.10682A= (p.Asn3561=)
n.4611A=
c.10811A= (p.Asn3604=)
2g.73572685A>CCA347285615ALMS1c.10427A>C (p.Asn3476Thr)
c.3513A>C
c.7708A>C
c.4874A>C (p.Asn1625Thr)
c.7753A>C
c.10808A>C (p.Asn3603Thr)
c.962A>C (p.Asn321Thr)
c.2164A>C
c.196A>C
c.1905A>C
c.4299A>C (n.4299A>C)
c.10682A>C (p.Asn3561Thr)
n.4611A>C
c.10811A>C (p.Asn3604Thr)
2g.73572685A>GCA1715062ALMS1c.10427A>G (p.Asn3476Ser)
c.3513A>G
c.7708A>G
c.4874A>G (p.Asn1625Ser)
c.7753A>G
c.10808A>G (p.Asn3603Ser)
c.962A>G (p.Asn321Ser)
c.2164A>G
c.196A>G
c.1905A>G
c.4299A>G (n.4299A>G)
c.10682A>G (p.Asn3561Ser)
n.4611A>G
c.10811A>G (p.Asn3604Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572685A>TCA347285618ALMS1c.10427A>T (p.Asn3476Ile)
c.3513A>T
c.7708A>T
c.4874A>T (p.Asn1625Ile)
c.7753A>T
c.10808A>T (p.Asn3603Ile)
c.962A>T (p.Asn321Ile)
c.2164A>T
c.196A>T
c.1905A>T
c.4299A>T (n.4299A>T)
c.10682A>T (p.Asn3561Ile)
n.4611A>T
c.10811A>T (p.Asn3604Ile)
2g.73572686C>ACA347285621ALMS1c.10428C>A (p.Asn3476Lys)
c.3514C>A
c.7709C>A
c.4875C>A (p.Asn1625Lys)
c.7754C>A
c.10809C>A (p.Asn3603Lys)
c.963C>A (p.Asn321Lys)
c.2165C>A
c.197C>A
c.1906C>A
c.4300C>A (n.4300C>A)
c.10683C>A (p.Asn3561Lys)
n.4612C>A
c.10812C>A (p.Asn3604Lys)
2g.73572686C>GCA347285623ALMS1c.10428C>G (p.Asn3476Lys)
c.3514C>G
c.7709C>G
c.4875C>G (p.Asn1625Lys)
c.7754C>G
c.10809C>G (p.Asn3603Lys)
c.963C>G (p.Asn321Lys)
c.2165C>G
c.197C>G
c.1906C>G
c.4300C>G (n.4300C>G)
c.10683C>G (p.Asn3561Lys)
n.4612C>G
c.10812C>G (p.Asn3604Lys)
2g.73572686C>TCA427024565ALMS1c.10428C>T (p.Asn3476=)
c.3514C>T
c.7709C>T
c.4875C>T (p.Asn1625=)
c.7754C>T
c.10809C>T (p.Asn3603=)
c.963C>T (p.Asn321=)
c.2165C>T
c.197C>T
c.1906C>T
c.4300C>T (n.4300C>T)
c.10683C>T (p.Asn3561=)
n.4612C>T
c.10812C>T (p.Asn3604=)
 gnomAD v4
2g.73572687A>CCA347285631ALMS1c.10429A>C (p.Lys3477Gln)
c.3515A>C
c.7710A>C
c.4876A>C (p.Lys1626Gln)
c.7755A>C
c.10810A>C (p.Lys3604Gln)
c.964A>C (p.Lys322Gln)
c.2166A>C
c.198A>C
c.1907A>C
c.4301A>C (n.4301A>C)
c.10684A>C (p.Lys3562Gln)
n.4613A>C
c.10813A>C (p.Lys3605Gln)
2g.73572687A>GCA347285629ALMS1c.10429A>G (p.Lys3477Glu)
c.3515A>G
c.7710A>G
c.4876A>G (p.Lys1626Glu)
c.7755A>G
c.10810A>G (p.Lys3604Glu)
c.964A>G (p.Lys322Glu)
c.2166A>G
c.198A>G
c.1907A>G
c.4301A>G (n.4301A>G)
c.10684A>G (p.Lys3562Glu)
n.4613A>G
c.10813A>G (p.Lys3605Glu)
 gnomAD v4
2g.73572687A>TCA347285627ALMS1c.10429A>T (p.Lys3477Ter)
c.3515A>T
c.7710A>T
c.4876A>T (p.Lys1626Ter)
c.7755A>T
c.10810A>T (p.Lys3604Ter)
c.964A>T (p.Lys322Ter)
c.2166A>T
c.198A>T
c.1907A>T
c.4301A>T (n.4301A>T)
c.10684A>T (p.Lys3562Ter)
n.4613A>T
c.10813A>T (p.Lys3605Ter)
2g.73572688A>CCA347285635ALMS1c.10430A>C (p.Lys3477Thr)
c.3516A>C
c.7711A>C
c.4877A>C (p.Lys1626Thr)
c.7756A>C
c.10811A>C (p.Lys3604Thr)
c.965A>C (p.Lys322Thr)
c.2167A>C
c.199A>C
c.1908A>C
c.4302A>C (n.4302A>C)
c.10685A>C (p.Lys3562Thr)
n.4614A>C
c.10814A>C (p.Lys3605Thr)
2g.73572688A>GCA347285638ALMS1c.10430A>G (p.Lys3477Arg)
c.3516A>G
c.7711A>G
c.4877A>G (p.Lys1626Arg)
c.7756A>G
c.10811A>G (p.Lys3604Arg)
c.965A>G (p.Lys322Arg)
c.2167A>G
c.199A>G
c.1908A>G
c.4302A>G (n.4302A>G)
c.10685A>G (p.Lys3562Arg)
n.4614A>G
c.10814A>G (p.Lys3605Arg)
2g.73572688A>TCA347285640ALMS1c.10430A>T (p.Lys3477Met)
c.3516A>T
c.7711A>T
c.4877A>T (p.Lys1626Met)
c.7756A>T
c.10811A>T (p.Lys3604Met)
c.965A>T (p.Lys322Met)
c.2167A>T
c.199A>T
c.1908A>T
c.4302A>T (n.4302A>T)
c.10685A>T (p.Lys3562Met)
n.4614A>T
c.10814A>T (p.Lys3605Met)
2g.73572689G>ACA50386456ALMS1c.10431G>A (p.Lys3477=)
c.3517G>A
c.7712G>A
c.4878G>A (p.Lys1626=)
c.7757G>A
c.10812G>A (p.Lys3604=)
c.966G>A (p.Lys322=)
c.2168G>A
c.200G>A
c.1909G>A
c.4303G>A (n.4303G>A)
c.10686G>A (p.Lys3562=)
n.4615G>A
c.10815G>A (p.Lys3605=)
 ClinVar dbSNP
2g.73572689G>CCA347285644ALMS1c.10431G>C (p.Lys3477Asn)
c.3517G>C
c.7712G>C
c.4878G>C (p.Lys1626Asn)
c.7757G>C
c.10812G>C (p.Lys3604Asn)
c.966G>C (p.Lys322Asn)
c.2168G>C
c.200G>C
c.1909G>C
c.4303G>C (n.4303G>C)
c.10686G>C (p.Lys3562Asn)
n.4615G>C
c.10815G>C (p.Lys3605Asn)
2g.73572689G=CA1261021593ALMS1c.10431G= (p.Lys3477=)
c.3517G=
c.7712G=
c.4878G= (p.Lys1626=)
c.7757G=
c.10812G= (p.Lys3604=)
c.966G= (p.Lys322=)
c.2168G=
c.200G=
c.1909G=
c.4303G= (n.4303G=)
c.10686G= (p.Lys3562=)
n.4615G=
c.10815G= (p.Lys3605=)
2g.73572689G>TCA347285646ALMS1c.10431G>T (p.Lys3477Asn)
c.3517G>T
c.7712G>T
c.4878G>T (p.Lys1626Asn)
c.7757G>T
c.10812G>T (p.Lys3604Asn)
c.966G>T (p.Lys322Asn)
c.2168G>T
c.200G>T
c.1909G>T
c.4303G>T (n.4303G>T)
c.10686G>T (p.Lys3562Asn)
n.4615G>T
c.10815G>T (p.Lys3605Asn)
2g.73572689dupCA913090900ALMS1c.10431dup (p.Tyr3478ValfsTer12)
c.3517dup
c.7712dup
c.4878dup (p.Tyr1627ValfsTer12)
c.7757dup
c.10812dup (p.Tyr3605ValfsTer12)
c.966dup (p.Tyr323ValfsTer12)
c.2168dup
c.200dup
c.1909dup
c.4303dup (n.4303dup)
c.10686dup (p.Tyr3563ValfsTer12)
n.4615dup
c.10815dup (p.Tyr3606ValfsTer12)
2g.73572690_73572694delCA2659617197ALMS1c.10432_10436del (p.Tyr3478GlyfsTer10)
c.3518_3522del
c.7713_7717del
c.4879_4883del (p.Tyr1627GlyfsTer10)
c.7758_7762del
c.10813_10817del (p.Tyr3605GlyfsTer10)
c.967_971del (p.Tyr323GlyfsTer10)
c.2169_2173del
c.201_205del
c.1910_1914del
c.4304_4308del (n.4304_4308del)
c.10687_10691del (p.Tyr3563GlyfsTer10)
n.4616_4620del
c.10816_10820del (p.Tyr3606GlyfsTer10)
 gnomAD v4
2g.73572690T>ACA347285649ALMS1c.10432T>A (p.Tyr3478Asn)
c.3518T>A
c.7713T>A
c.4879T>A (p.Tyr1627Asn)
c.7758T>A
c.10813T>A (p.Tyr3605Asn)
c.967T>A (p.Tyr323Asn)
c.2169T>A
c.201T>A
c.1910T>A
c.4304T>A (n.4304T>A)
c.10687T>A (p.Tyr3563Asn)
n.4616T>A
c.10816T>A (p.Tyr3606Asn)
2g.73572690T>CCA347285651ALMS1c.10432T>C (p.Tyr3478His)
c.3518T>C
c.7713T>C
c.4879T>C (p.Tyr1627His)
c.7758T>C
c.10813T>C (p.Tyr3605His)
c.967T>C (p.Tyr323His)
c.2169T>C
c.201T>C
c.1910T>C
c.4304T>C (n.4304T>C)
c.10687T>C (p.Tyr3563His)
n.4616T>C
c.10816T>C (p.Tyr3606His)
 gnomAD v4
2g.73572690T>GCA347285653ALMS1c.10432T>G (p.Tyr3478Asp)
c.3518T>G
c.7713T>G
c.4879T>G (p.Tyr1627Asp)
c.7758T>G
c.10813T>G (p.Tyr3605Asp)
c.967T>G (p.Tyr323Asp)
c.2169T>G
c.201T>G
c.1910T>G
c.4304T>G (n.4304T>G)
c.10687T>G (p.Tyr3563Asp)
n.4616T>G
c.10816T>G (p.Tyr3606Asp)
2g.73572690dupCA658822832ALMS1c.10432dup (p.Tyr3478LeufsTer12)
c.3518dup
c.7713dup
c.4879dup (p.Tyr1627LeufsTer12)
c.7758dup
c.10813dup (p.Tyr3605LeufsTer12)
c.967dup (p.Tyr323LeufsTer12)
c.2169dup
c.201dup
c.1910dup
c.4304dup (n.4304dup)
c.10687dup (p.Tyr3563LeufsTer12)
n.4616dup
c.10816dup (p.Tyr3606LeufsTer12)
 ClinVar dbSNP
2g.73572691A>CCA347285656ALMS1c.10433A>C (p.Tyr3478Ser)
c.3519A>C
c.7714A>C
c.4880A>C (p.Tyr1627Ser)
c.7759A>C
c.10814A>C (p.Tyr3605Ser)
c.968A>C (p.Tyr323Ser)
c.2170A>C
c.202A>C
c.1911A>C
c.4305A>C (n.4305A>C)
c.10688A>C (p.Tyr3563Ser)
n.4617A>C
c.10817A>C (p.Tyr3606Ser)
2g.73572691A>GCA347285658ALMS1c.10433A>G (p.Tyr3478Cys)
c.3519A>G
c.7714A>G
c.4880A>G (p.Tyr1627Cys)
c.7759A>G
c.10814A>G (p.Tyr3605Cys)
c.968A>G (p.Tyr323Cys)
c.2170A>G
c.202A>G
c.1911A>G
c.4305A>G (n.4305A>G)
c.10688A>G (p.Tyr3563Cys)
n.4617A>G
c.10817A>G (p.Tyr3606Cys)
 gnomAD v4
2g.73572691A>TCA347285660ALMS1c.10433A>T (p.Tyr3478Phe)
c.3519A>T
c.7714A>T
c.4880A>T (p.Tyr1627Phe)
c.7759A>T
c.10814A>T (p.Tyr3605Phe)
c.968A>T (p.Tyr323Phe)
c.2170A>T
c.202A>T
c.1911A>T
c.4305A>T (n.4305A>T)
c.10688A>T (p.Tyr3563Phe)
n.4617A>T
c.10817A>T (p.Tyr3606Phe)
2g.73572692T>ACA347285662ALMS1c.10434T>A (p.Tyr3478Ter)
c.3520T>A
c.7715T>A
c.4881T>A (p.Tyr1627Ter)
c.7760T>A
c.10815T>A (p.Tyr3605Ter)
c.969T>A (p.Tyr323Ter)
c.2171T>A
c.203T>A
c.1912T>A
c.4306T>A (n.4306T>A)
c.10689T>A (p.Tyr3563Ter)
n.4618T>A
c.10818T>A (p.Tyr3606Ter)
2g.73572692T>CCA427024574ALMS1c.10434T>C (p.Tyr3478=)
c.3520T>C
c.7715T>C
c.4881T>C (p.Tyr1627=)
c.7760T>C
c.10815T>C (p.Tyr3605=)
c.969T>C (p.Tyr323=)
c.2171T>C
c.203T>C
c.1912T>C
c.4306T>C (n.4306T>C)
c.10689T>C (p.Tyr3563=)
n.4618T>C
c.10818T>C (p.Tyr3606=)
 ClinVar dbSNP
2g.73572692T>GCA347285665ALMS1c.10434T>G (p.Tyr3478Ter)
c.3520T>G
c.7715T>G
c.4881T>G (p.Tyr1627Ter)
c.7760T>G
c.10815T>G (p.Tyr3605Ter)
c.969T>G (p.Tyr323Ter)
c.2171T>G
c.203T>G
c.1912T>G
c.4306T>G (n.4306T>G)
c.10689T>G (p.Tyr3563Ter)
n.4618T>G
c.10818T>G (p.Tyr3606Ter)
2g.73572692T=CA1261021611ALMS1c.10434T= (p.Tyr3478=)
c.3520T=
c.7715T=
c.4881T= (p.Tyr1627=)
c.7760T=
c.10815T= (p.Tyr3605=)
c.969T= (p.Tyr323=)
c.2171T=
c.203T=
c.1912T=
c.4306T= (n.4306T=)
c.10689T= (p.Tyr3563=)
n.4618T=
c.10818T= (p.Tyr3606=)
2g.73572693C>ACA427024576ALMS1c.10435C>A (p.Arg3479=)
c.3521C>A
c.7716C>A
c.4882C>A (p.Arg1628=)
c.7761C>A
c.10816C>A (p.Arg3606=)
c.970C>A (p.Arg324=)
c.2172C>A
c.204C>A
c.1913C>A
c.4307C>A (n.4307C>A)
c.10690C>A (p.Arg3564=)
n.4619C>A
c.10819C>A (p.Arg3607=)
2g.73572693C=CA1261021619ALMS1c.10435C= (p.Arg3479=)
c.3521C=
c.7716C=
c.4882C= (p.Arg1628=)
c.7761C=
c.10816C= (p.Arg3606=)
c.970C= (p.Arg324=)
c.2172C=
c.204C=
c.1913C=
c.4307C= (n.4307C=)
c.10690C= (p.Arg3564=)
n.4619C=
c.10819C= (p.Arg3607=)
2g.73572693C>GCA347285667ALMS1c.10435C>G (p.Arg3479Gly)
c.3521C>G
c.7716C>G
c.4882C>G (p.Arg1628Gly)
c.7761C>G
c.10816C>G (p.Arg3606Gly)
c.970C>G (p.Arg324Gly)
c.2172C>G
c.204C>G
c.1913C>G
c.4307C>G (n.4307C>G)
c.10690C>G (p.Arg3564Gly)
n.4619C>G
c.10819C>G (p.Arg3607Gly)
 gnomAD v4
2g.73572693C>TCA347285669ALMS1c.10435C>T (p.Arg3479Trp)
c.3521C>T
c.7716C>T
c.4882C>T (p.Arg1628Trp)
c.7761C>T
c.10816C>T (p.Arg3606Trp)
c.970C>T (p.Arg324Trp)
c.2172C>T
c.204C>T
c.1913C>T
c.4307C>T (n.4307C>T)
c.10690C>T (p.Arg3564Trp)
n.4619C>T
c.10819C>T (p.Arg3607Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572694G>ACA1715063ALMS1c.10436G>A (p.Arg3479Gln)
c.3522G>A
c.7717G>A
c.4883G>A (p.Arg1628Gln)
c.7762G>A
c.10817G>A (p.Arg3606Gln)
c.971G>A (p.Arg324Gln)
c.2173G>A
c.205G>A
c.1914G>A
c.4308G>A (n.4308G>A)
c.10691G>A (p.Arg3564Gln)
n.4620G>A
c.10820G>A (p.Arg3607Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572694G>CCA347285676ALMS1c.10436G>C (p.Arg3479Pro)
c.3522G>C
c.7717G>C
c.4883G>C (p.Arg1628Pro)
c.7762G>C
c.10817G>C (p.Arg3606Pro)
c.971G>C (p.Arg324Pro)
c.2173G>C
c.205G>C
c.1914G>C
c.4308G>C (n.4308G>C)
c.10691G>C (p.Arg3564Pro)
n.4620G>C
c.10820G>C (p.Arg3607Pro)
2g.73572694G=CA1261021626ALMS1c.10436G= (p.Arg3479=)
c.3522G=
c.7717G=
c.4883G= (p.Arg1628=)
c.7762G=
c.10817G= (p.Arg3606=)
c.971G= (p.Arg324=)
c.2173G=
c.205G=
c.1914G=
c.4308G= (n.4308G=)
c.10691G= (p.Arg3564=)
n.4620G=
c.10820G= (p.Arg3607=)
2g.73572694G>TCA347285678ALMS1c.10436G>T (p.Arg3479Leu)
c.3522G>T
c.7717G>T
c.4883G>T (p.Arg1628Leu)
c.7762G>T
c.10817G>T (p.Arg3606Leu)
c.971G>T (p.Arg324Leu)
c.2173G>T
c.205G>T
c.1914G>T
c.4308G>T (n.4308G>T)
c.10691G>T (p.Arg3564Leu)
n.4620G>T
c.10820G>T (p.Arg3607Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.73572695G>ACA427024579ALMS1c.10437G>A (p.Arg3479=)
c.3523G>A
c.7718G>A
c.4884G>A (p.Arg1628=)
c.7763G>A
c.10818G>A (p.Arg3606=)
c.972G>A (p.Arg324=)
c.2174G>A
c.206G>A
c.1915G>A
c.4309G>A (n.4309G>A)
c.10692G>A (p.Arg3564=)
n.4621G>A
c.10821G>A (p.Arg3607=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572695G>CCA427024581ALMS1c.10437G>C (p.Arg3479=)
c.3523G>C
c.7718G>C
c.4884G>C (p.Arg1628=)
c.7763G>C
c.10818G>C (p.Arg3606=)
c.972G>C (p.Arg324=)
c.2174G>C
c.206G>C
c.1915G>C
c.4309G>C (n.4309G>C)
c.10692G>C (p.Arg3564=)
n.4621G>C
c.10821G>C (p.Arg3607=)
2g.73572695G=CA1261021631ALMS1c.10437G= (p.Arg3479=)
c.3523G=
c.7718G=
c.4884G= (p.Arg1628=)
c.7763G=
c.10818G= (p.Arg3606=)
c.972G= (p.Arg324=)
c.2174G=
c.206G=
c.1915G=
c.4309G= (n.4309G=)
c.10692G= (p.Arg3564=)
n.4621G=
c.10821G= (p.Arg3607=)
2g.73572695G>TCA427024580ALMS1c.10437G>T (p.Arg3479=)
c.3523G>T
c.7718G>T
c.4884G>T (p.Arg1628=)
c.7763G>T
c.10818G>T (p.Arg3606=)
c.972G>T (p.Arg324=)
c.2174G>T
c.206G>T
c.1915G>T
c.4309G>T (n.4309G>T)
c.10692G>T (p.Arg3564=)
n.4621G>T
c.10821G>T (p.Arg3607=)
2g.73572696G>ACA347285681ALMS1c.10438G>A (p.Glu3480Lys)
c.3524G>A
c.7719G>A
c.4885G>A (p.Glu1629Lys)
c.7764G>A
c.10819G>A (p.Glu3607Lys)
c.973G>A (p.Glu325Lys)
c.2175G>A
c.207G>A
c.1916G>A
c.4310G>A (n.4310G>A)
c.10693G>A (p.Glu3565Lys)
n.4622G>A
c.10822G>A (p.Glu3608Lys)
 ClinVar
2g.73572696G>CCA347285683ALMS1c.10438G>C (p.Glu3480Gln)
c.3524G>C
c.7719G>C
c.4885G>C (p.Glu1629Gln)
c.7764G>C
c.10819G>C (p.Glu3607Gln)
c.973G>C (p.Glu325Gln)
c.2175G>C
c.207G>C
c.1916G>C
c.4310G>C (n.4310G>C)
c.10693G>C (p.Glu3565Gln)
n.4622G>C
c.10822G>C (p.Glu3608Gln)
2g.73572696G>TCA347285685ALMS1c.10438G>T (p.Glu3480Ter)
c.3524G>T
c.7719G>T
c.4885G>T (p.Glu1629Ter)
c.7764G>T
c.10819G>T (p.Glu3607Ter)
c.973G>T (p.Glu325Ter)
c.2175G>T
c.207G>T
c.1916G>T
c.4310G>T (n.4310G>T)
c.10693G>T (p.Glu3565Ter)
n.4622G>T
c.10822G>T (p.Glu3608Ter)
2g.73572697A>CCA347285689ALMS1c.10439A>C (p.Glu3480Ala)
c.3525A>C
c.7720A>C
c.4886A>C (p.Glu1629Ala)
c.7765A>C
c.10820A>C (p.Glu3607Ala)
c.974A>C (p.Glu325Ala)
c.2176A>C
c.208A>C
c.1917A>C
c.4311A>C (n.4311A>C)
c.10694A>C (p.Glu3565Ala)
n.4623A>C
c.10823A>C (p.Glu3608Ala)
2g.73572697A>GCA347285691ALMS1c.10439A>G (p.Glu3480Gly)
c.3525A>G
c.7720A>G
c.4886A>G (p.Glu1629Gly)
c.7765A>G
c.10820A>G (p.Glu3607Gly)
c.974A>G (p.Glu325Gly)
c.2176A>G
c.208A>G
c.1917A>G
c.4311A>G (n.4311A>G)
c.10694A>G (p.Glu3565Gly)
n.4623A>G
c.10823A>G (p.Glu3608Gly)
2g.73572697A>TCA347285693ALMS1c.10439A>T (p.Glu3480Val)
c.3525A>T
c.7720A>T
c.4886A>T (p.Glu1629Val)
c.7765A>T
c.10820A>T (p.Glu3607Val)
c.974A>T (p.Glu325Val)
c.2176A>T
c.208A>T
c.1917A>T
c.4311A>T (n.4311A>T)
c.10694A>T (p.Glu3565Val)
n.4623A>T
c.10823A>T (p.Glu3608Val)
2g.73572698G>ACA427024586ALMS1c.10440G>A (p.Glu3480=)
c.3526G>A
c.7721G>A
c.4887G>A (p.Glu1629=)
c.7766G>A
c.10821G>A (p.Glu3607=)
c.975G>A (p.Glu325=)
c.2177G>A
c.209G>A
c.1918G>A
c.4312G>A (n.4312G>A)
c.10695G>A (p.Glu3565=)
n.4624G>A
c.10824G>A (p.Glu3608=)
2g.73572698G>CCA347285696ALMS1c.10440G>C (p.Glu3480Asp)
c.3526G>C
c.7721G>C
c.4887G>C (p.Glu1629Asp)
c.7766G>C
c.10821G>C (p.Glu3607Asp)
c.975G>C (p.Glu325Asp)
c.2177G>C
c.209G>C
c.1918G>C
c.4312G>C (n.4312G>C)
c.10695G>C (p.Glu3565Asp)
n.4624G>C
c.10824G>C (p.Glu3608Asp)
2g.73572698G=CA1261021634ALMS1c.10440G= (p.Glu3480=)
c.3526G=
c.7721G=
c.4887G= (p.Glu1629=)
c.7766G=
c.10821G= (p.Glu3607=)
c.975G= (p.Glu325=)
c.2177G=
c.209G=
c.1918G=
c.4312G= (n.4312G=)
c.10695G= (p.Glu3565=)
n.4624G=
c.10824G= (p.Glu3608=)
2g.73572698G>TCA347285698ALMS1c.10440G>T (p.Glu3480Asp)
c.3526G>T
c.7721G>T
c.4887G>T (p.Glu1629Asp)
c.7766G>T
c.10821G>T (p.Glu3607Asp)
c.975G>T (p.Glu325Asp)
c.2177G>T
c.209G>T
c.1918G>T
c.4312G>T (n.4312G>T)
c.10695G>T (p.Glu3565Asp)
n.4624G>T
c.10824G>T (p.Glu3608Asp)
2g.73572699C>ACA427024589ALMS1c.10441C>A (p.Arg3481=)
c.3527C>A
c.7722C>A
c.4888C>A (p.Arg1630=)
c.7767C>A
c.10822C>A (p.Arg3608=)
c.976C>A (p.Arg326=)
c.2178C>A
c.210C>A
c.1919C>A
c.4313C>A (n.4313C>A)
c.10696C>A (p.Arg3566=)
n.4625C>A
c.10825C>A (p.Arg3609=)
2g.73572699C=CA1261021642ALMS1c.10441C= (p.Arg3481=)
c.3527C=
c.7722C=
c.4888C= (p.Arg1630=)
c.7767C=
c.10822C= (p.Arg3608=)
c.976C= (p.Arg326=)
c.2178C=
c.210C=
c.1919C=
c.4313C= (n.4313C=)
c.10696C= (p.Arg3566=)
n.4625C=
c.10825C= (p.Arg3609=)
2g.73572699C>GCA347285702ALMS1c.10441C>G (p.Arg3481Gly)
c.3527C>G
c.7722C>G
c.4888C>G (p.Arg1630Gly)
c.7767C>G
c.10822C>G (p.Arg3608Gly)
c.976C>G (p.Arg326Gly)
c.2178C>G
c.210C>G
c.1919C>G
c.4313C>G (n.4313C>G)
c.10696C>G (p.Arg3566Gly)
n.4625C>G
c.10825C>G (p.Arg3609Gly)
 ClinVar
2g.73572699C>TCA347285703ALMS1c.10441C>T (p.Arg3481Ter)
c.3527C>T
c.7722C>T
c.4888C>T (p.Arg1630Ter)
c.7767C>T
c.10822C>T (p.Arg3608Ter)
c.976C>T (p.Arg326Ter)
c.2178C>T
c.210C>T
c.1919C>T
c.4313C>T (n.4313C>T)
c.10696C>T (p.Arg3566Ter)
n.4625C>T
c.10825C>T (p.Arg3609Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73572699_73572702dupCA1715064ALMS1c.10441_10444dup (p.Gln3482ProfsTer9)
c.3527_3530dup
c.7722_7725dup
c.4888_4891dup (p.Gln1631ProfsTer9)
c.7767_7770dup
c.10822_10825dup (p.Gln3609ProfsTer9)
c.976_979dup (p.Gln327ProfsTer9)
c.2178_2181dup
c.210_213dup
c.1919_1922dup
c.4313_4316dup (n.4313_4316dup)
c.10696_10699dup (p.Gln3567ProfsTer9)
n.4625_4628dup
c.10825_10828dup (p.Gln3610ProfsTer9)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572700G>ACA1715065ALMS1c.10442G>A (p.Arg3481Gln)
c.3528G>A
c.7723G>A
c.4889G>A (p.Arg1630Gln)
c.7768G>A
c.10823G>A (p.Arg3608Gln)
c.977G>A (p.Arg326Gln)
c.2179G>A
c.211G>A
c.1920G>A
c.4314G>A (n.4314G>A)
c.10697G>A (p.Arg3566Gln)
n.4626G>A
c.10826G>A (p.Arg3609Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572700G>CCA347285707ALMS1c.10442G>C (p.Arg3481Pro)
c.3528G>C
c.7723G>C
c.4889G>C (p.Arg1630Pro)
c.7768G>C
c.10823G>C (p.Arg3608Pro)
c.977G>C (p.Arg326Pro)
c.2179G>C
c.211G>C
c.1920G>C
c.4314G>C (n.4314G>C)
c.10697G>C (p.Arg3566Pro)
n.4626G>C
c.10826G>C (p.Arg3609Pro)
2g.73572700G=CA1261021649ALMS1c.10442G= (p.Arg3481=)
c.3528G=
c.7723G=
c.4889G= (p.Arg1630=)
c.7768G=
c.10823G= (p.Arg3608=)
c.977G= (p.Arg326=)
c.2179G=
c.211G=
c.1920G=
c.4314G= (n.4314G=)
c.10697G= (p.Arg3566=)
n.4626G=
c.10826G= (p.Arg3609=)
2g.73572700G>TCA347285709ALMS1c.10442G>T (p.Arg3481Leu)
c.3528G>T
c.7723G>T
c.4889G>T (p.Arg1630Leu)
c.7768G>T
c.10823G>T (p.Arg3608Leu)
c.977G>T (p.Arg326Leu)
c.2179G>T
c.211G>T
c.1920G>T
c.4314G>T (n.4314G>T)
c.10697G>T (p.Arg3566Leu)
n.4626G>T
c.10826G>T (p.Arg3609Leu)
2g.73572701A>CCA427024596ALMS1c.10443A>C (p.Arg3481=)
c.3529A>C
c.7724A>C
c.4890A>C (p.Arg1630=)
c.7769A>C
c.10824A>C (p.Arg3608=)
c.978A>C (p.Arg326=)
c.2180A>C
c.212A>C
c.1921A>C
c.4315A>C (n.4315A>C)
c.10698A>C (p.Arg3566=)
n.4627A>C
c.10827A>C (p.Arg3609=)
 ClinVar dbSNP
2g.73572701A>GCA427024597ALMS1c.10443A>G (p.Arg3481=)
c.3529A>G
c.7724A>G
c.4890A>G (p.Arg1630=)
c.7769A>G
c.10824A>G (p.Arg3608=)
c.978A>G (p.Arg326=)
c.2180A>G
c.212A>G
c.1921A>G
c.4315A>G (n.4315A>G)
c.10698A>G (p.Arg3566=)
n.4627A>G
c.10827A>G (p.Arg3609=)
 gnomAD v4
2g.73572701A>TCA427024599ALMS1c.10443A>T (p.Arg3481=)
c.3529A>T
c.7724A>T
c.4890A>T (p.Arg1630=)
c.7769A>T
c.10824A>T (p.Arg3608=)
c.978A>T (p.Arg326=)
c.2180A>T
c.212A>T
c.1921A>T
c.4315A>T (n.4315A>T)
c.10698A>T (p.Arg3566=)
n.4627A>T
c.10827A>T (p.Arg3609=)
 ClinVar
2g.73572702C>ACA50386464ALMS1c.10444C>A (p.Gln3482Lys)
c.3530C>A
c.7725C>A
c.4891C>A (p.Gln1631Lys)
c.7770C>A
c.10825C>A (p.Gln3609Lys)
c.979C>A (p.Gln327Lys)
c.2181C>A
c.213C>A
c.1922C>A
c.4316C>A (n.4316C>A)
c.10699C>A (p.Gln3567Lys)
n.4628C>A
c.10828C>A (p.Gln3610Lys)
 dbSNP
2g.73572702C=CA1261021655ALMS1c.10444C= (p.Gln3482=)
c.3530C=
c.7725C=
c.4891C= (p.Gln1631=)
c.7770C=
c.10825C= (p.Gln3609=)
c.979C= (p.Gln327=)
c.2181C=
c.213C=
c.1922C=
c.4316C= (n.4316C=)
c.10699C= (p.Gln3567=)
n.4628C=
c.10828C= (p.Gln3610=)
2g.73572702C>GCA347285713ALMS1c.10444C>G (p.Gln3482Glu)
c.3530C>G
c.7725C>G
c.4891C>G (p.Gln1631Glu)
c.7770C>G
c.10825C>G (p.Gln3609Glu)
c.979C>G (p.Gln327Glu)
c.2181C>G
c.213C>G
c.1922C>G
c.4316C>G (n.4316C>G)
c.10699C>G (p.Gln3567Glu)
n.4628C>G
c.10828C>G (p.Gln3610Glu)
2g.73572702C>TCA347285715ALMS1c.10444C>T (p.Gln3482Ter)
c.3530C>T
c.7725C>T
c.4891C>T (p.Gln1631Ter)
c.7770C>T
c.10825C>T (p.Gln3609Ter)
c.979C>T (p.Gln327Ter)
c.2181C>T
c.213C>T
c.1922C>T
c.4316C>T (n.4316C>T)
c.10699C>T (p.Gln3567Ter)
n.4628C>T
c.10828C>T (p.Gln3610Ter)
 ClinVar
2g.73572702_73572704delCA913090901ALMS1c.10444_10446del (p.Gln3482del)
c.3530_3532del
c.7725_7727del
c.4891_4893del (p.Gln1631del)
c.7770_7772del
c.10825_10827del (p.Gln3609del)
c.979_981del (p.Gln327del)
c.2181_2183del
c.213_215del
c.1922_1924del
c.4316_4318del (n.4316_4318del)
c.10699_10701del (p.Gln3567del)
n.4628_4630del
c.10828_10830del (p.Gln3610del)
2g.73572702_73572704delinsCAGCA1261021657ALMS1c.10444_10446delinsCAG (p.Gln3482=)
c.3530_3532delinsCAG
c.7725_7727delinsCAG
c.4891_4893delinsCAG (p.Gln1631=)
c.7770_7772delinsCAG
c.10825_10827delinsCAG (p.Gln3609=)
c.979_981delinsCAG (p.Gln327=)
c.2181_2183delinsCAG
c.213_215delinsCAG
c.1922_1924delinsCAG
c.4316_4318delinsCAG (n.4316_4318delinsCAG)
c.10699_10701delinsCAG (p.Gln3567=)
n.4628_4630delinsCAG
c.10828_10830delinsCAG (p.Gln3610=)
2g.73572703A=CA1261021671ALMS1c.10445A= (p.Gln3482=)
c.3531A=
c.7726A=
c.4892A= (p.Gln1631=)
c.7771A=
c.10826A= (p.Gln3609=)
c.980A= (p.Gln327=)
c.2182A=
c.214A=
c.1923A=
c.4317A= (n.4317A=)
c.10700A= (p.Gln3567=)
n.4629A=
c.10829A= (p.Gln3610=)
2g.73572703A>CCA347285719ALMS1c.10445A>C (p.Gln3482Pro)
c.3531A>C
c.7726A>C
c.4892A>C (p.Gln1631Pro)
c.7771A>C
c.10826A>C (p.Gln3609Pro)
c.980A>C (p.Gln327Pro)
c.2182A>C
c.214A>C
c.1923A>C
c.4317A>C (n.4317A>C)
c.10700A>C (p.Gln3567Pro)
n.4629A>C
c.10829A>C (p.Gln3610Pro)
2g.73572703A>GCA10615962ALMS1c.10445A>G (p.Gln3482Arg)
c.3531A>G
c.7726A>G
c.4892A>G (p.Gln1631Arg)
c.7771A>G
c.10826A>G (p.Gln3609Arg)
c.980A>G (p.Gln327Arg)
c.2182A>G
c.214A>G
c.1923A>G
c.4317A>G (n.4317A>G)
c.10700A>G (p.Gln3567Arg)
n.4629A>G
c.10829A>G (p.Gln3610Arg)
 ClinVar dbSNP
2g.73572703A>TCA347285722ALMS1c.10445A>T (p.Gln3482Leu)
c.3531A>T
c.7726A>T
c.4892A>T (p.Gln1631Leu)
c.7771A>T
c.10826A>T (p.Gln3609Leu)
c.980A>T (p.Gln327Leu)
c.2182A>T
c.214A>T
c.1923A>T
c.4317A>T (n.4317A>T)
c.10700A>T (p.Gln3567Leu)
n.4629A>T
c.10829A>T (p.Gln3610Leu)
2g.73572705_73572706delCA1715066ALMS1c.10447_10448del (p.Arg3483AlafsTer6)
c.3533_3534del
c.7728_7729del
c.4894_4895del (p.Arg1632AlafsTer6)
c.7773_7774del
c.10828_10829del (p.Arg3610AlafsTer6)
c.982_983del (p.Arg328AlafsTer6)
c.2184_2185del
c.216_217del
c.1925_1926del
c.4319_4320del (n.4319_4320del)
c.10702_10703del (p.Arg3568AlafsTer6)
n.4631_4632del
c.10831_10832del (p.Arg3611AlafsTer6)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572704G>ACA427024603ALMS1c.10446G>A (p.Gln3482=)
c.3532G>A
c.7727G>A
c.4893G>A (p.Gln1631=)
c.7772G>A
c.10827G>A (p.Gln3609=)
c.981G>A (p.Gln327=)
c.2183G>A
c.215G>A
c.1924G>A
c.4318G>A (n.4318G>A)
c.10701G>A (p.Gln3567=)
n.4630G>A
c.10830G>A (p.Gln3610=)
 ClinVar dbSNP
2g.73572704G>CCA347285726ALMS1c.10446G>C (p.Gln3482His)
c.3532G>C
c.7727G>C
c.4893G>C (p.Gln1631His)
c.7772G>C
c.10827G>C (p.Gln3609His)
c.981G>C (p.Gln327His)
c.2183G>C
c.215G>C
c.1924G>C
c.4318G>C (n.4318G>C)
c.10701G>C (p.Gln3567His)
n.4630G>C
c.10830G>C (p.Gln3610His)
 ClinVar dbSNP
2g.73572704G>TCA347285729ALMS1c.10446G>T (p.Gln3482His)
c.3532G>T
c.7727G>T
c.4893G>T (p.Gln1631His)
c.7772G>T
c.10827G>T (p.Gln3609His)
c.981G>T (p.Gln327His)
c.2183G>T
c.215G>T
c.1924G>T
c.4318G>T (n.4318G>T)
c.10701G>T (p.Gln3567His)
n.4630G>T
c.10830G>T (p.Gln3610His)
2g.73572704_73572705insCCA2586964951ALMS1c.10446_10447insC (p.Arg3483GlnfsTer7)
c.3532_3533insC
c.7727_7728insC
c.4893_4894insC (p.Arg1632GlnfsTer7)
c.7772_7773insC
c.10827_10828insC (p.Arg3610GlnfsTer7)
c.981_982insC (p.Arg328GlnfsTer7)
c.2183_2184insC
c.215_216insC
c.1924_1925insC
c.4318_4319insC (n.4318_4319insC)
c.10701_10702insC (p.Arg3568GlnfsTer7)
n.4630_4631insC
c.10830_10831insC (p.Arg3611GlnfsTer7)
2g.73572705A=CA1261021675ALMS1c.10447A= (p.Arg3483=)
c.3533A=
c.7728A=
c.4894A= (p.Arg1632=)
c.7773A=
c.10828A= (p.Arg3610=)
c.982A= (p.Arg328=)
c.2184A=
c.216A=
c.1925A=
c.4319A= (n.4319A=)
c.10702A= (p.Arg3568=)
n.4631A=
c.10831A= (p.Arg3611=)
2g.73572705A>CCA427024605ALMS1c.10447A>C (p.Arg3483=)
c.3533A>C
c.7728A>C
c.4894A>C (p.Arg1632=)
c.7773A>C
c.10828A>C (p.Arg3610=)
c.982A>C (p.Arg328=)
c.2184A>C
c.216A>C
c.1925A>C
c.4319A>C (n.4319A>C)
c.10702A>C (p.Arg3568=)
n.4631A>C
c.10831A>C (p.Arg3611=)
2g.73572705A>GCA1715067ALMS1c.10447A>G (p.Arg3483Gly)
c.3533A>G
c.7728A>G
c.4894A>G (p.Arg1632Gly)
c.7773A>G
c.10828A>G (p.Arg3610Gly)
c.982A>G (p.Arg328Gly)
c.2184A>G
c.216A>G
c.1925A>G
c.4319A>G (n.4319A>G)
c.10702A>G (p.Arg3568Gly)
n.4631A>G
c.10831A>G (p.Arg3611Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572705A>TCA347285732ALMS1c.10447A>T (p.Arg3483Trp)
c.3533A>T
c.7728A>T
c.4894A>T (p.Arg1632Trp)
c.7773A>T
c.10828A>T (p.Arg3610Trp)
c.982A>T (p.Arg328Trp)
c.2184A>T
c.216A>T
c.1925A>T
c.4319A>T (n.4319A>T)
c.10702A>T (p.Arg3568Trp)
n.4631A>T
c.10831A>T (p.Arg3611Trp)
2g.73572706G>ACA347285738ALMS1c.10448G>A (p.Arg3483Lys)
c.3534G>A
c.7729G>A
c.4895G>A (p.Arg1632Lys)
c.7774G>A
c.10829G>A (p.Arg3610Lys)
c.983G>A (p.Arg328Lys)
c.2185G>A
c.217G>A
c.1926G>A
c.4320G>A (n.4320G>A)
c.10703G>A (p.Arg3568Lys)
n.4632G>A
c.10832G>A (p.Arg3611Lys)
2g.73572706G>CCA347285741ALMS1c.10448G>C (p.Arg3483Thr)
c.3534G>C
c.7729G>C
c.4895G>C (p.Arg1632Thr)
c.7774G>C
c.10829G>C (p.Arg3610Thr)
c.983G>C (p.Arg328Thr)
c.2185G>C
c.217G>C
c.1926G>C
c.4320G>C (n.4320G>C)
c.10703G>C (p.Arg3568Thr)
n.4632G>C
c.10832G>C (p.Arg3611Thr)
2g.73572706G>TCA347285740ALMS1c.10448G>T (p.Arg3483Met)
c.3534G>T
c.7729G>T
c.4895G>T (p.Arg1632Met)
c.7774G>T
c.10829G>T (p.Arg3610Met)
c.983G>T (p.Arg328Met)
c.2185G>T
c.217G>T
c.1926G>T
c.4320G>T (n.4320G>T)
c.10703G>T (p.Arg3568Met)
n.4632G>T
c.10832G>T (p.Arg3611Met)
2g.73572707G>ACA1715068ALMS1c.10449G>A (p.Arg3483=)
c.3535G>A
c.7730G>A
c.4896G>A (p.Arg1632=)
c.7775G>A
c.10830G>A (p.Arg3610=)
c.984G>A (p.Arg328=)
c.2186G>A
c.218G>A
c.1927G>A
c.4321G>A (n.4321G>A)
c.10704G>A (p.Arg3568=)
n.4633G>A
c.10833G>A (p.Arg3611=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572707G>CCA347285745ALMS1c.10449G>C (p.Arg3483Ser)
c.3535G>C
c.7730G>C
c.4896G>C (p.Arg1632Ser)
c.7775G>C
c.10830G>C (p.Arg3610Ser)
c.984G>C (p.Arg328Ser)
c.2186G>C
c.218G>C
c.1927G>C
c.4321G>C (n.4321G>C)
c.10704G>C (p.Arg3568Ser)
n.4633G>C
c.10833G>C (p.Arg3611Ser)
2g.73572707G=CA1261021682ALMS1c.10449G= (p.Arg3483=)
c.3535G=
c.7730G=
c.4896G= (p.Arg1632=)
c.7775G=
c.10830G= (p.Arg3610=)
c.984G= (p.Arg328=)
c.2186G=
c.218G=
c.1927G=
c.4321G= (n.4321G=)
c.10704G= (p.Arg3568=)
n.4633G=
c.10833G= (p.Arg3611=)
2g.73572707G>TCA347285748ALMS1c.10449G>T (p.Arg3483Ser)
c.3535G>T
c.7730G>T
c.4896G>T (p.Arg1632Ser)
c.7775G>T
c.10830G>T (p.Arg3610Ser)
c.984G>T (p.Arg328Ser)
c.2186G>T
c.218G>T
c.1927G>T
c.4321G>T (n.4321G>T)
c.10704G>T (p.Arg3568Ser)
n.4633G>T
c.10833G>T (p.Arg3611Ser)
2g.73572708C>ACA347285751ALMS1c.10450C>A (p.Gln3484Lys)
c.3536C>A
c.7731C>A
c.4897C>A (p.Gln1633Lys)
c.7776C>A
c.10831C>A (p.Gln3611Lys)
c.985C>A (p.Gln329Lys)
c.2187C>A
c.219C>A
c.1928C>A
c.4322C>A (n.4322C>A)
c.10705C>A (p.Gln3569Lys)
n.4634C>A
c.10834C>A (p.Gln3612Lys)
2g.73572708C>GCA347285753ALMS1c.10450C>G (p.Gln3484Glu)
c.3536C>G
c.7731C>G
c.4897C>G (p.Gln1633Glu)
c.7776C>G
c.10831C>G (p.Gln3611Glu)
c.985C>G (p.Gln329Glu)
c.2187C>G
c.219C>G
c.1928C>G
c.4322C>G (n.4322C>G)
c.10705C>G (p.Gln3569Glu)
n.4634C>G
c.10834C>G (p.Gln3612Glu)
2g.73572708C>TCA347285755ALMS1c.10450C>T (p.Gln3484Ter)
c.3536C>T
c.7731C>T
c.4897C>T (p.Gln1633Ter)
c.7776C>T
c.10831C>T (p.Gln3611Ter)
c.985C>T (p.Gln329Ter)
c.2187C>T
c.219C>T
c.1928C>T
c.4322C>T (n.4322C>T)
c.10705C>T (p.Gln3569Ter)
n.4634C>T
c.10834C>T (p.Gln3612Ter)
 ClinVar dbSNP
2g.73572709A=CA1261021691ALMS1c.10451A= (p.Gln3484=)
c.3537A=
c.7732A=
c.4898A= (p.Gln1633=)
c.7777A=
c.10832A= (p.Gln3611=)
c.986A= (p.Gln329=)
c.2188A=
c.220A=
c.1929A=
c.4323A= (n.4323A=)
c.10706A= (p.Gln3569=)
n.4635A=
c.10835A= (p.Gln3612=)
2g.73572709A>CCA347285758ALMS1c.10451A>C (p.Gln3484Pro)
c.3537A>C
c.7732A>C
c.4898A>C (p.Gln1633Pro)
c.7777A>C
c.10832A>C (p.Gln3611Pro)
c.986A>C (p.Gln329Pro)
c.2188A>C
c.220A>C
c.1929A>C
c.4323A>C (n.4323A>C)
c.10706A>C (p.Gln3569Pro)
n.4635A>C
c.10835A>C (p.Gln3612Pro)
2g.73572709A>GCA1715069ALMS1c.10451A>G (p.Gln3484Arg)
c.3537A>G
c.7732A>G
c.4898A>G (p.Gln1633Arg)
c.7777A>G
c.10832A>G (p.Gln3611Arg)
c.986A>G (p.Gln329Arg)
c.2188A>G
c.220A>G
c.1929A>G
c.4323A>G (n.4323A>G)
c.10706A>G (p.Gln3569Arg)
n.4635A>G
c.10835A>G (p.Gln3612Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572709A>TCA347285761ALMS1c.10451A>T (p.Gln3484Leu)
c.3537A>T
c.7732A>T
c.4898A>T (p.Gln1633Leu)
c.7777A>T
c.10832A>T (p.Gln3611Leu)
c.986A>T (p.Gln329Leu)
c.2188A>T
c.220A>T
c.1929A>T
c.4323A>T (n.4323A>T)
c.10706A>T (p.Gln3569Leu)
n.4635A>T
c.10835A>T (p.Gln3612Leu)
2g.73572710delCA2739271096ALMS1c.10452del (p.Gln3484HisfsTer?)
c.3538del
c.7733del
c.4899del (p.Gln1633HisfsTer?)
c.7778del
c.10833del (p.Gln3611HisfsTer?)
c.987del (p.Gln329HisfsTer?)
c.2189del
c.221del
c.1930del
c.4324del (n.4324del)
c.10707del (p.Gln3569HisfsTer?)
n.4636del
c.10836del (p.Gln3612HisfsTer?)
 ClinVar
2g.73572710A=CA1261021696ALMS1c.10452A= (p.Gln3484=)
c.3538A=
c.7733A=
c.4899A= (p.Gln1633=)
c.7778A=
c.10833A= (p.Gln3611=)
c.987A= (p.Gln329=)
c.2189A=
c.221A=
c.1930A=
c.4324A= (n.4324A=)
c.10707A= (p.Gln3569=)
n.4636A=
c.10836A= (p.Gln3612=)
2g.73572710A>CCA347285764ALMS1c.10452A>C (p.Gln3484His)
c.3538A>C
c.7733A>C
c.4899A>C (p.Gln1633His)
c.7778A>C
c.10833A>C (p.Gln3611His)
c.987A>C (p.Gln329His)
c.2189A>C
c.221A>C
c.1930A>C
c.4324A>C (n.4324A>C)
c.10707A>C (p.Gln3569His)
n.4636A>C
c.10836A>C (p.Gln3612His)
2g.73572710A>GCA427024610ALMS1c.10452A>G (p.Gln3484=)
c.3538A>G
c.7733A>G
c.4899A>G (p.Gln1633=)
c.7778A>G
c.10833A>G (p.Gln3611=)
c.987A>G (p.Gln329=)
c.2189A>G
c.221A>G
c.1930A>G
c.4324A>G (n.4324A>G)
c.10707A>G (p.Gln3569=)
n.4636A>G
c.10836A>G (p.Gln3612=)
 ClinVar dbSNP gnomAD v4
2g.73572710A>TCA347285766ALMS1c.10452A>T (p.Gln3484His)
c.3538A>T
c.7733A>T
c.4899A>T (p.Gln1633His)
c.7778A>T
c.10833A>T (p.Gln3611His)
c.987A>T (p.Gln329His)
c.2189A>T
c.221A>T
c.1930A>T
c.4324A>T (n.4324A>T)
c.10707A>T (p.Gln3569His)
n.4636A>T
c.10836A>T (p.Gln3612His)
2g.73572711C>ACA347285769ALMS1c.10453C>A (p.Gln3485Lys)
c.3539C>A
c.7734C>A
c.4900C>A (p.Gln1634Lys)
c.7779C>A
c.10834C>A (p.Gln3612Lys)
c.988C>A (p.Gln330Lys)
c.2190C>A
c.222C>A
c.1931C>A
c.4325C>A (n.4325C>A)
c.10708C>A (p.Gln3570Lys)
n.4637C>A
c.10837C>A (p.Gln3613Lys)
2g.73572711C=CA1261021702ALMS1c.10453C= (p.Gln3485=)
c.3539C=
c.7734C=
c.4900C= (p.Gln1634=)
c.7779C=
c.10834C= (p.Gln3612=)
c.988C= (p.Gln330=)
c.2190C=
c.222C=
c.1931C=
c.4325C= (n.4325C=)
c.10708C= (p.Gln3570=)
n.4637C=
c.10837C= (p.Gln3613=)
2g.73572711C>GCA1715070ALMS1c.10453C>G (p.Gln3485Glu)
c.3539C>G
c.7734C>G
c.4900C>G (p.Gln1634Glu)
c.7779C>G
c.10834C>G (p.Gln3612Glu)
c.988C>G (p.Gln330Glu)
c.2190C>G
c.222C>G
c.1931C>G
c.4325C>G (n.4325C>G)
c.10708C>G (p.Gln3570Glu)
n.4637C>G
c.10837C>G (p.Gln3613Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572711C>TCA347285768ALMS1c.10453C>T (p.Gln3485Ter)
c.3539C>T
c.7734C>T
c.4900C>T (p.Gln1634Ter)
c.7779C>T
c.10834C>T (p.Gln3612Ter)
c.988C>T (p.Gln330Ter)
c.2190C>T
c.222C>T
c.1931C>T
c.4325C>T (n.4325C>T)
c.10708C>T (p.Gln3570Ter)
n.4637C>T
c.10837C>T (p.Gln3613Ter)
 ClinVar dbSNP gnomAD v4
2g.73572712A=CA1261021708ALMS1c.10454A= (p.Gln3485=)
c.3540A=
c.7735A=
c.4901A= (p.Gln1634=)
c.7780A=
c.10835A= (p.Gln3612=)
c.989A= (p.Gln330=)
c.2191A=
c.223A=
c.1932A=
c.4326A= (n.4326A=)
c.10709A= (p.Gln3570=)
n.4638A=
c.10838A= (p.Gln3613=)
2g.73572712A>CCA347285771ALMS1c.10454A>C (p.Gln3485Pro)
c.3540A>C
c.7735A>C
c.4901A>C (p.Gln1634Pro)
c.7780A>C
c.10835A>C (p.Gln3612Pro)
c.989A>C (p.Gln330Pro)
c.2191A>C
c.223A>C
c.1932A>C
c.4326A>C (n.4326A>C)
c.10709A>C (p.Gln3570Pro)
n.4638A>C
c.10838A>C (p.Gln3613Pro)
2g.73572712A>GCA347285773ALMS1c.10454A>G (p.Gln3485Arg)
c.3540A>G
c.7735A>G
c.4901A>G (p.Gln1634Arg)
c.7780A>G
c.10835A>G (p.Gln3612Arg)
c.989A>G (p.Gln330Arg)
c.2191A>G
c.223A>G
c.1932A>G
c.4326A>G (n.4326A>G)
c.10709A>G (p.Gln3570Arg)
n.4638A>G
c.10838A>G (p.Gln3613Arg)
2g.73572712A>TCA347285775ALMS1c.10454A>T (p.Gln3485Leu)
c.3540A>T
c.7735A>T
c.4901A>T (p.Gln1634Leu)
c.7780A>T
c.10835A>T (p.Gln3612Leu)
c.989A>T (p.Gln330Leu)
c.2191A>T
c.223A>T
c.1932A>T
c.4326A>T (n.4326A>T)
c.10709A>T (p.Gln3570Leu)
n.4638A>T
c.10838A>T (p.Gln3613Leu)
2g.73572712dupCA913090902ALMS1c.10454dup (p.Arg3486GlufsTer4)
c.3540dup
c.7735dup
c.4901dup (p.Arg1635GlufsTer4)
c.7780dup
c.10835dup (p.Arg3613GlufsTer4)
c.989dup (p.Arg331GlufsTer4)
c.2191dup
c.223dup
c.1932dup
c.4326dup (n.4326dup)
c.10709dup (p.Arg3571GlufsTer4)
n.4638dup
c.10838dup (p.Arg3614GlufsTer4)
2g.73572715_73572716delCA2697548295ALMS1c.10457_10458del (p.Arg3486ThrfsTer3)
c.3543_3544del
c.7738_7739del
c.4904_4905del (p.Arg1635ThrfsTer3)
c.7783_7784del
c.10838_10839del (p.Arg3613ThrfsTer3)
c.992_993del (p.Arg331ThrfsTer3)
c.2194_2195del
c.226_227del
c.1935_1936del
c.4329_4330del (n.4329_4330del)
c.10712_10713del (p.Arg3571ThrfsTer3)
n.4641_4642del
c.10841_10842del (p.Arg3614ThrfsTer3)
 ClinVar
2g.73572713G>ACA427024615ALMS1c.10455G>A (p.Gln3485=)
c.3541G>A
c.7736G>A
c.4902G>A (p.Gln1634=)
c.7781G>A
c.10836G>A (p.Gln3612=)
c.990G>A (p.Gln330=)
c.2192G>A
c.224G>A
c.1933G>A
c.4327G>A (n.4327G>A)
c.10710G>A (p.Gln3570=)
n.4639G>A
c.10839G>A (p.Gln3613=)
 gnomAD v4
2g.73572713G>CCA347285776ALMS1c.10455G>C (p.Gln3485His)
c.3541G>C
c.7736G>C
c.4902G>C (p.Gln1634His)
c.7781G>C
c.10836G>C (p.Gln3612His)
c.990G>C (p.Gln330His)
c.2192G>C
c.224G>C
c.1933G>C
c.4327G>C (n.4327G>C)
c.10710G>C (p.Gln3570His)
n.4639G>C
c.10839G>C (p.Gln3613His)
2g.73572713G>TCA347285779ALMS1c.10455G>T (p.Gln3485His)
c.3541G>T
c.7736G>T
c.4902G>T (p.Gln1634His)
c.7781G>T
c.10836G>T (p.Gln3612His)
c.990G>T (p.Gln330His)
c.2192G>T
c.224G>T
c.1933G>T
c.4327G>T (n.4327G>T)
c.10710G>T (p.Gln3570His)
n.4639G>T
c.10839G>T (p.Gln3613His)
2g.73572713dupCA658822833ALMS1c.10455dup (p.Arg3486GlufsTer4)
c.3541dup
c.7736dup
c.4902dup (p.Arg1635GlufsTer4)
c.7781dup
c.10836dup (p.Arg3613GlufsTer4)
c.990dup (p.Arg331GlufsTer4)
c.2192dup
c.224dup
c.1933dup
c.4327dup (n.4327dup)
c.10710dup (p.Arg3571GlufsTer4)
n.4639dup
c.10839dup (p.Arg3614GlufsTer4)
 ClinVar dbSNP
2g.73572714A>CCA427024616ALMS1c.10456A>C (p.Arg3486=)
c.3542A>C
c.7737A>C
c.4903A>C (p.Arg1635=)
c.7782A>C
c.10837A>C (p.Arg3613=)
c.991A>C (p.Arg331=)
c.2193A>C
c.225A>C
c.1934A>C
c.4328A>C (n.4328A>C)
c.10711A>C (p.Arg3571=)
n.4640A>C
c.10840A>C (p.Arg3614=)
2g.73572714A>GCA347285781ALMS1c.10456A>G (p.Arg3486Gly)
c.3542A>G
c.7737A>G
c.4903A>G (p.Arg1635Gly)
c.7782A>G
c.10837A>G (p.Arg3613Gly)
c.991A>G (p.Arg331Gly)
c.2193A>G
c.225A>G
c.1934A>G
c.4328A>G (n.4328A>G)
c.10711A>G (p.Arg3571Gly)
n.4640A>G
c.10840A>G (p.Arg3614Gly)
2g.73572714A>TCA347285783ALMS1c.10456A>T (p.Arg3486Ter)
c.3542A>T
c.7737A>T
c.4903A>T (p.Arg1635Ter)
c.7782A>T
c.10837A>T (p.Arg3613Ter)
c.991A>T (p.Arg331Ter)
c.2193A>T
c.225A>T
c.1934A>T
c.4328A>T (n.4328A>T)
c.10711A>T (p.Arg3571Ter)
n.4640A>T
c.10840A>T (p.Arg3614Ter)
2g.73572715G>ACA347285786ALMS1c.10457G>A (p.Arg3486Lys)
c.3543G>A
c.7738G>A
c.4904G>A (p.Arg1635Lys)
c.7783G>A
c.10838G>A (p.Arg3613Lys)
c.992G>A (p.Arg331Lys)
c.2194G>A
c.226G>A
c.1935G>A
c.4329G>A (n.4329G>A)
c.10712G>A (p.Arg3571Lys)
n.4641G>A
c.10841G>A (p.Arg3614Lys)
2g.73572715G>CCA347285787ALMS1c.10457G>C (p.Arg3486Thr)
c.3543G>C
c.7738G>C
c.4904G>C (p.Arg1635Thr)
c.7783G>C
c.10838G>C (p.Arg3613Thr)
c.992G>C (p.Arg331Thr)
c.2194G>C
c.226G>C
c.1935G>C
c.4329G>C (n.4329G>C)
c.10712G>C (p.Arg3571Thr)
n.4641G>C
c.10841G>C (p.Arg3614Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.73572715G=CA1261021724ALMS1c.10457G= (p.Arg3486=)
c.3543G=
c.7738G=
c.4904G= (p.Arg1635=)
c.7783G=
c.10838G= (p.Arg3613=)
c.992G= (p.Arg331=)
c.2194G=
c.226G=
c.1935G=
c.4329G= (n.4329G=)
c.10712G= (p.Arg3571=)
n.4641G=
c.10841G= (p.Arg3614=)
2g.73572715G>TCA347285788ALMS1c.10457G>T (p.Arg3486Ile)
c.3543G>T
c.7738G>T
c.4904G>T (p.Arg1635Ile)
c.7783G>T
c.10838G>T (p.Arg3613Ile)
c.992G>T (p.Arg331Ile)
c.2194G>T
c.226G>T
c.1935G>T
c.4329G>T (n.4329G>T)
c.10712G>T (p.Arg3571Ile)
n.4641G>T
c.10841G>T (p.Arg3614Ile)
2g.73572716delCA2659617211ALMS1c.10458del (p.Arg3486SerfsTer?)
c.3544del
c.7739del
c.4905del (p.Arg1635SerfsTer?)
c.7784del
c.10839del (p.Arg3613SerfsTer?)
c.993del (p.Arg331SerfsTer?)
c.2195del
c.227del
c.1936del
c.4330del (n.4330del)
c.10713del (p.Arg3571SerfsTer?)
n.4642del
c.10842del (p.Arg3614SerfsTer?)
 gnomAD v4
2g.73572716A>CCA347285791ALMS1c.10458A>C (p.Arg3486Ser)
c.3544A>C
c.7739A>C
c.4905A>C (p.Arg1635Ser)
c.7784A>C
c.10839A>C (p.Arg3613Ser)
c.993A>C (p.Arg331Ser)
c.2195A>C
c.227A>C
c.1936A>C
c.4330A>C (n.4330A>C)
c.10713A>C (p.Arg3571Ser)
n.4642A>C
c.10842A>C (p.Arg3614Ser)
2g.73572716A>GCA427024627ALMS1c.10458A>G (p.Arg3486=)
c.3544A>G
c.7739A>G
c.4905A>G (p.Arg1635=)
c.7784A>G
c.10839A>G (p.Arg3613=)
c.993A>G (p.Arg331=)
c.2195A>G
c.227A>G
c.1936A>G
c.4330A>G (n.4330A>G)
c.10713A>G (p.Arg3571=)
n.4642A>G
c.10842A>G (p.Arg3614=)
2g.73572716A>TCA347285794ALMS1c.10458A>T (p.Arg3486Ser)
c.3544A>T
c.7739A>T
c.4905A>T (p.Arg1635Ser)
c.7784A>T
c.10839A>T (p.Arg3613Ser)
c.993A>T (p.Arg331Ser)
c.2195A>T
c.227A>T
c.1936A>T
c.4330A>T (n.4330A>T)
c.10713A>T (p.Arg3571Ser)
n.4642A>T
c.10842A>T (p.Arg3614Ser)
2g.73572717_73572718delCA2586964952ALMS1c.10459_10460del (p.Gln3487AlafsTer2)
c.3545_3546del
c.7740_7741del
c.4906_4907del (p.Gln1636AlafsTer2)
c.7785_7786del
c.10840_10841del (p.Gln3614AlafsTer2)
c.994_995del (p.Gln332AlafsTer2)
c.2196_2197del
c.228_229del
c.1937_1938del
c.4331_4332del (n.4331_4332del)
c.10714_10715del (p.Gln3572AlafsTer2)
n.4643_4644del
c.10843_10844del (p.Gln3615AlafsTer2)
2g.73572717C>ACA347285801ALMS1c.10459C>A (p.Gln3487Lys)
c.3545C>A
c.7740C>A
c.4906C>A (p.Gln1636Lys)
c.7785C>A
c.10840C>A (p.Gln3614Lys)
c.994C>A (p.Gln332Lys)
c.2196C>A
c.228C>A
c.1937C>A
c.4331C>A (n.4331C>A)
c.10714C>A (p.Gln3572Lys)
n.4643C>A
c.10843C>A (p.Gln3615Lys)
2g.73572717C>GCA347285803ALMS1c.10459C>G (p.Gln3487Glu)
c.3545C>G
c.7740C>G
c.4906C>G (p.Gln1636Glu)
c.7785C>G
c.10840C>G (p.Gln3614Glu)
c.994C>G (p.Gln332Glu)
c.2196C>G
c.228C>G
c.1937C>G
c.4331C>G (n.4331C>G)
c.10714C>G (p.Gln3572Glu)
n.4643C>G
c.10843C>G (p.Gln3615Glu)
 gnomAD v4
2g.73572717C>TCA347285798ALMS1c.10459C>T (p.Gln3487Ter)
c.3545C>T
c.7740C>T
c.4906C>T (p.Gln1636Ter)
c.7785C>T
c.10840C>T (p.Gln3614Ter)
c.994C>T (p.Gln332Ter)
c.2196C>T
c.228C>T
c.1937C>T
c.4331C>T (n.4331C>T)
c.10714C>T (p.Gln3572Ter)
n.4643C>T
c.10843C>T (p.Gln3615Ter)
2g.73572718A>CCA347285805ALMS1c.10460A>C (p.Gln3487Pro)
c.3546A>C
c.7741A>C
c.4907A>C (p.Gln1636Pro)
c.7786A>C
c.10841A>C (p.Gln3614Pro)
c.995A>C (p.Gln332Pro)
c.2197A>C
c.229A>C
c.1938A>C
c.4332A>C (n.4332A>C)
c.10715A>C (p.Gln3572Pro)
n.4644A>C
c.10844A>C (p.Gln3615Pro)
2g.73572718A>GCA347285807ALMS1c.10460A>G (p.Gln3487Arg)
c.3546A>G
c.7741A>G
c.4907A>G (p.Gln1636Arg)
c.7786A>G
c.10841A>G (p.Gln3614Arg)
c.995A>G (p.Gln332Arg)
c.2197A>G
c.229A>G
c.1938A>G
c.4332A>G (n.4332A>G)
c.10715A>G (p.Gln3572Arg)
n.4644A>G
c.10844A>G (p.Gln3615Arg)
2g.73572718A>TCA347285809ALMS1c.10460A>T (p.Gln3487Leu)
c.3546A>T
c.7741A>T
c.4907A>T (p.Gln1636Leu)
c.7786A>T
c.10841A>T (p.Gln3614Leu)
c.995A>T (p.Gln332Leu)
c.2197A>T
c.229A>T
c.1938A>T
c.4332A>T (n.4332A>T)
c.10715A>T (p.Gln3572Leu)
n.4644A>T
c.10844A>T (p.Gln3615Leu)
2g.73572719G>ACA427024632ALMS1c.10461G>A (p.Gln3487=)
c.3547G>A
c.7742G>A
c.4908G>A (p.Gln1636=)
c.7787G>A
c.10842G>A (p.Gln3614=)
c.996G>A (p.Gln332=)
c.2198G>A
c.230G>A
c.1939G>A
c.4333G>A (n.4333G>A)
c.10716G>A (p.Gln3572=)
n.4645G>A
c.10845G>A (p.Gln3615=)
2g.73572719G>CCA347285811ALMS1c.10461G>C (p.Gln3487His)
c.3547G>C
c.7742G>C
c.4908G>C (p.Gln1636His)
c.7787G>C
c.10842G>C (p.Gln3614His)
c.996G>C (p.Gln332His)
c.2198G>C
c.230G>C
c.1939G>C
c.4333G>C (n.4333G>C)
c.10716G>C (p.Gln3572His)
n.4645G>C
c.10845G>C (p.Gln3615His)
2g.73572719G=CA1261021729ALMS1c.10461G= (p.Gln3487=)
c.3547G=
c.7742G=
c.4908G= (p.Gln1636=)
c.7787G=
c.10842G= (p.Gln3614=)
c.996G= (p.Gln332=)
c.2198G=
c.230G=
c.1939G=
c.4333G= (n.4333G=)
c.10716G= (p.Gln3572=)
n.4645G=
c.10845G= (p.Gln3615=)
2g.73572719G>TCA347285813ALMS1c.10461G>T (p.Gln3487His)
c.3547G>T
c.7742G>T
c.4908G>T (p.Gln1636His)
c.7787G>T
c.10842G>T (p.Gln3614His)
c.996G>T (p.Gln332His)
c.2198G>T
c.230G>T
c.1939G>T
c.4333G>T (n.4333G>T)
c.10716G>T (p.Gln3572His)
n.4645G>T
c.10845G>T (p.Gln3615His)
 ClinVar dbSNP
2g.73572719_73572720delCA913090903ALMS1c.10461_10462del (p.Gln3487HisfsTer2)
c.3547_3548del
c.7742_7743del
c.4908_4909del (p.Gln1636HisfsTer2)
c.7787_7788del
c.10842_10843del (p.Gln3614HisfsTer2)
c.996_997del (p.Gln332HisfsTer2)
c.2198_2199del
c.230_231del
c.1939_1940del
c.4333_4334del (n.4333_4334del)
c.10716_10717del (p.Gln3572HisfsTer2)
n.4645_4646del
c.10845_10846del (p.Gln3615HisfsTer2)
2g.73572719_73572720delinsGCCA1261021727ALMS1c.10461_10462delinsGC (p.Gln3487=)
c.3547_3548delinsGC
c.7742_7743delinsGC
c.4908_4909delinsGC (p.Gln1636=)
c.7787_7788delinsGC
c.10842_10843delinsGC (p.Gln3614=)
c.996_997delinsGC (p.Gln332=)
c.2198_2199delinsGC
c.230_231delinsGC
c.1939_1940delinsGC
c.4333_4334delinsGC (n.4333_4334delinsGC)
c.10716_10717delinsGC (p.Gln3572=)
n.4645_4646delinsGC
c.10845_10846delinsGC (p.Gln3615=)
2g.73572720C>ACA347285821ALMS1c.10462C>A (p.Pro3488Thr)
c.3548C>A
c.7743C>A
c.4909C>A (p.Pro1637Thr)
c.7788C>A
c.10843C>A (p.Pro3615Thr)
c.997C>A (p.Pro333Thr)
c.2199C>A
c.231C>A
c.1940C>A
c.4334C>A (n.4334C>A)
c.10717C>A (p.Pro3573Thr)
n.4646C>A
c.10846C>A (p.Pro3616Thr)
2g.73572720C>GCA347285819ALMS1c.10462C>G (p.Pro3488Ala)
c.3548C>G
c.7743C>G
c.4909C>G (p.Pro1637Ala)
c.7788C>G
c.10843C>G (p.Pro3615Ala)
c.997C>G (p.Pro333Ala)
c.2199C>G
c.231C>G
c.1940C>G
c.4334C>G (n.4334C>G)
c.10717C>G (p.Pro3573Ala)
n.4646C>G
c.10846C>G (p.Pro3616Ala)
2g.73572720C>TCA347285816ALMS1c.10462C>T (p.Pro3488Ser)
c.3548C>T
c.7743C>T
c.4909C>T (p.Pro1637Ser)
c.7788C>T
c.10843C>T (p.Pro3615Ser)
c.997C>T (p.Pro333Ser)
c.2199C>T
c.231C>T
c.1940C>T
c.4334C>T (n.4334C>T)
c.10717C>T (p.Pro3573Ser)
n.4646C>T
c.10846C>T (p.Pro3616Ser)
2g.73572721delCA658822834ALMS1c.10463del (p.Pro3488LeufsTer?)
c.3549del
c.7744del
c.4910del (p.Pro1637LeufsTer?)
c.7789del
c.10844del (p.Pro3615LeufsTer?)
c.998del (p.Pro333LeufsTer?)
c.2200del
c.232del
c.1941del
c.4335del (n.4335del)
c.10718del (p.Pro3573LeufsTer?)
n.4647del
c.10847del (p.Pro3616LeufsTer?)
 ClinVar dbSNP
2g.73572721C>ACA347285825ALMS1c.10463C>A (p.Pro3488His)
c.3549C>A
c.7744C>A
c.4910C>A (p.Pro1637His)
c.7789C>A
c.10844C>A (p.Pro3615His)
c.998C>A (p.Pro333His)
c.2200C>A
c.232C>A
c.1941C>A
c.4335C>A (n.4335C>A)
c.10718C>A (p.Pro3573His)
n.4647C>A
c.10847C>A (p.Pro3616His)
2g.73572721C>GCA347285828ALMS1c.10463C>G (p.Pro3488Arg)
c.3549C>G
c.7744C>G
c.4910C>G (p.Pro1637Arg)
c.7789C>G
c.10844C>G (p.Pro3615Arg)
c.998C>G (p.Pro333Arg)
c.2200C>G
c.232C>G
c.1941C>G
c.4335C>G (n.4335C>G)
c.10718C>G (p.Pro3573Arg)
n.4647C>G
c.10847C>G (p.Pro3616Arg)
2g.73572721C>TCA347285830ALMS1c.10463C>T (p.Pro3488Leu)
c.3549C>T
c.7744C>T
c.4910C>T (p.Pro1637Leu)
c.7789C>T
c.10844C>T (p.Pro3615Leu)
c.998C>T (p.Pro333Leu)
c.2200C>T
c.232C>T
c.1941C>T
c.4335C>T (n.4335C>T)
c.10718C>T (p.Pro3573Leu)
n.4647C>T
c.10847C>T (p.Pro3616Leu)
 gnomAD v4
2g.73572722T>ACA427024638ALMS1c.10464T>A (p.Pro3488=)
c.3550T>A
c.7745T>A
c.4911T>A (p.Pro1637=)
c.7790T>A
c.10845T>A (p.Pro3615=)
c.999T>A (p.Pro333=)
c.2201T>A
c.233T>A
c.1942T>A
c.4336T>A (n.4336T>A)
c.10719T>A (p.Pro3573=)
n.4648T>A
c.10848T>A (p.Pro3616=)
2g.73572722T>CCA427024639ALMS1c.10464T>C (p.Pro3488=)
c.3550T>C
c.7745T>C
c.4911T>C (p.Pro1637=)
c.7790T>C
c.10845T>C (p.Pro3615=)
c.999T>C (p.Pro333=)
c.2201T>C
c.233T>C
c.1942T>C
c.4336T>C (n.4336T>C)
c.10719T>C (p.Pro3573=)
n.4648T>C
c.10848T>C (p.Pro3616=)
 dbSNP
2g.73572722T>GCA427024641ALMS1c.10464T>G (p.Pro3488=)
c.3550T>G
c.7745T>G
c.4911T>G (p.Pro1637=)
c.7790T>G
c.10845T>G (p.Pro3615=)
c.999T>G (p.Pro333=)
c.2201T>G
c.233T>G
c.1942T>G
c.4336T>G (n.4336T>G)
c.10719T>G (p.Pro3573=)
n.4648T>G
c.10848T>G (p.Pro3616=)
2g.73572723G>ACA347285833ALMS1c.10465G>A (p.Glu3489Lys)
c.3551G>A
c.7746G>A
c.4912G>A (p.Glu1638Lys)
c.7791G>A
c.10846G>A (p.Glu3616Lys)
c.1000G>A (p.Glu334Lys)
c.2202G>A
c.234G>A
c.1943G>A
c.4337G>A (n.4337G>A)
c.10720G>A (p.Glu3574Lys)
n.4649G>A
c.10849G>A (p.Glu3617Lys)
2g.73572723G>CCA347285835ALMS1c.10465G>C (p.Glu3489Gln)
c.3551G>C
c.7746G>C
c.4912G>C (p.Glu1638Gln)
c.7791G>C
c.10846G>C (p.Glu3616Gln)
c.1000G>C (p.Glu334Gln)
c.2202G>C
c.234G>C
c.1943G>C
c.4337G>C (n.4337G>C)
c.10720G>C (p.Glu3574Gln)
n.4649G>C
c.10849G>C (p.Glu3617Gln)
2g.73572723G>TCA347285837ALMS1c.10465G>T (p.Glu3489Ter)
c.3551G>T
c.7746G>T
c.4912G>T (p.Glu1638Ter)
c.7791G>T
c.10846G>T (p.Glu3616Ter)
c.1000G>T (p.Glu334Ter)
c.2202G>T
c.234G>T
c.1943G>T
c.4337G>T (n.4337G>T)
c.10720G>T (p.Glu3574Ter)
n.4649G>T
c.10849G>T (p.Glu3617Ter)
2g.73572724A=CA1261021740ALMS1c.10466A= (p.Glu3489=)
c.3552A=
c.7747A=
c.4913A= (p.Glu1638=)
c.7792A=
c.10847A= (p.Glu3616=)
c.1001A= (p.Glu334=)
c.2203A=
c.235A=
c.1944A=
c.4338A= (n.4338A=)
c.10721A= (p.Glu3574=)
n.4650A=
c.10850A= (p.Glu3617=)
2g.73572724A>CCA347285839ALMS1c.10466A>C (p.Glu3489Ala)
c.3552A>C
c.7747A>C
c.4913A>C (p.Glu1638Ala)
c.7792A>C
c.10847A>C (p.Glu3616Ala)
c.1001A>C (p.Glu334Ala)
c.2203A>C
c.235A>C
c.1944A>C
c.4338A>C (n.4338A>C)
c.10721A>C (p.Glu3574Ala)
n.4650A>C
c.10850A>C (p.Glu3617Ala)
2g.73572724A>GCA347285841ALMS1c.10466A>G (p.Glu3489Gly)
c.3552A>G
c.7747A>G
c.4913A>G (p.Glu1638Gly)
c.7792A>G
c.10847A>G (p.Glu3616Gly)
c.1001A>G (p.Glu334Gly)
c.2203A>G
c.235A>G
c.1944A>G
c.4338A>G (n.4338A>G)
c.10721A>G (p.Glu3574Gly)
n.4650A>G
c.10850A>G (p.Glu3617Gly)
 dbSNP gnomAD v2
2g.73572724A>TCA347285840ALMS1c.10466A>T (p.Glu3489Val)
c.3552A>T
c.7747A>T
c.4913A>T (p.Glu1638Val)
c.7792A>T
c.10847A>T (p.Glu3616Val)
c.1001A>T (p.Glu334Val)
c.2203A>T
c.235A>T
c.1944A>T
c.4338A>T (n.4338A>T)
c.10721A>T (p.Glu3574Val)
n.4650A>T
c.10850A>T (p.Glu3617Val)
2g.73572725G>ACA427024642ALMS1c.10467G>A (p.Glu3489=)
c.3553G>A
c.7748G>A
c.4914G>A (p.Glu1638=)
c.7793G>A
c.10848G>A (p.Glu3616=)
c.1002G>A (p.Glu334=)
c.2204G>A
c.236G>A
c.1945G>A
c.4339G>A (n.4339G>A)
c.10722G>A (p.Glu3574=)
n.4651G>A
c.10851G>A (p.Glu3617=)
2g.73572725G>CCA347285845ALMS1c.10467G>C (p.Glu3489Asp)
c.3553G>C
c.7748G>C
c.4914G>C (p.Glu1638Asp)
c.7793G>C
c.10848G>C (p.Glu3616Asp)
c.1002G>C (p.Glu334Asp)
c.2204G>C
c.236G>C
c.1945G>C
c.4339G>C (n.4339G>C)
c.10722G>C (p.Glu3574Asp)
n.4651G>C
c.10851G>C (p.Glu3617Asp)
2g.73572725G>TCA347285847ALMS1c.10467G>T (p.Glu3489Asp)
c.3553G>T
c.7748G>T
c.4914G>T (p.Glu1638Asp)
c.7793G>T
c.10848G>T (p.Glu3616Asp)
c.1002G>T (p.Glu334Asp)
c.2204G>T
c.236G>T
c.1945G>T
c.4339G>T (n.4339G>T)
c.10722G>T (p.Glu3574Asp)
n.4651G>T
c.10851G>T (p.Glu3617Asp)
 gnomAD v4
2g.73572726T>ACA347285850ALMS1c.10468T>A (p.Leu3490Met)
c.3554T>A
c.7749T>A
c.4915T>A (p.Leu1639Met)
c.7794T>A
c.10849T>A (p.Leu3617Met)
c.1003T>A (p.Leu335Met)
c.2205T>A
c.237T>A
c.1946T>A
c.4340T>A (n.4340T>A)
c.10723T>A (p.Leu3575Met)
n.4652T>A
c.10852T>A (p.Leu3618Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572726T>CCA427024644ALMS1c.10468T>C (p.Leu3490=)
c.3554T>C
c.7749T>C
c.4915T>C (p.Leu1639=)
c.7794T>C
c.10849T>C (p.Leu3617=)
c.1003T>C (p.Leu335=)
c.2205T>C
c.237T>C
c.1946T>C
c.4340T>C (n.4340T>C)
c.10723T>C (p.Leu3575=)
n.4652T>C
c.10852T>C (p.Leu3618=)
 ClinVar dbSNP
2g.73572726T>GCA1715071ALMS1c.10468T>G (p.Leu3490Val)
c.3554T>G
c.7749T>G
c.4915T>G (p.Leu1639Val)
c.7794T>G
c.10849T>G (p.Leu3617Val)
c.1003T>G (p.Leu335Val)
c.2205T>G
c.237T>G
c.1946T>G
c.4340T>G (n.4340T>G)
c.10723T>G (p.Leu3575Val)
n.4652T>G
c.10852T>G (p.Leu3618Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572726T=CA1261021743ALMS1c.10468T= (p.Leu3490=)
c.3554T=
c.7749T=
c.4915T= (p.Leu1639=)
c.7794T=
c.10849T= (p.Leu3617=)
c.1003T= (p.Leu335=)
c.2205T=
c.237T=
c.1946T=
c.4340T= (n.4340T=)
c.10723T= (p.Leu3575=)
n.4652T=
c.10852T= (p.Leu3618=)
2g.73572727T>ACA347285855ALMS1c.10469T>A (p.Leu3490Ter)
c.3555T>A
c.7750T>A
c.4916T>A (p.Leu1639Ter)
c.7795T>A
c.10850T>A (p.Leu3617Ter)
c.1004T>A (p.Leu335Ter)
c.2206T>A
c.238T>A
c.1947T>A
c.4341T>A (n.4341T>A)
c.10724T>A (p.Leu3575Ter)
n.4653T>A
c.10853T>A (p.Leu3618Ter)
2g.73572727T>CCA347285857ALMS1c.10469T>C (p.Leu3490Ser)
c.3555T>C
c.7750T>C
c.4916T>C (p.Leu1639Ser)
c.7795T>C
c.10850T>C (p.Leu3617Ser)
c.1004T>C (p.Leu335Ser)
c.2206T>C
c.238T>C
c.1947T>C
c.4341T>C (n.4341T>C)
c.10724T>C (p.Leu3575Ser)
n.4653T>C
c.10853T>C (p.Leu3618Ser)
2g.73572727T>GCA347285859ALMS1c.10469T>G (p.Leu3490Trp)
c.3555T>G
c.7750T>G
c.4916T>G (p.Leu1639Trp)
c.7795T>G
c.10850T>G (p.Leu3617Trp)
c.1004T>G (p.Leu335Trp)
c.2206T>G
c.238T>G
c.1947T>G
c.4341T>G (n.4341T>G)
c.10724T>G (p.Leu3575Trp)
n.4653T>G
c.10853T>G (p.Leu3618Trp)
2g.73572728G>ACA427024646ALMS1c.10470G>A (p.Leu3490=)
c.3556G>A
c.7751G>A
c.4917G>A (p.Leu1639=)
c.7796G>A
c.10851G>A (p.Leu3617=)
c.1005G>A (p.Leu335=)
c.2207G>A
c.239G>A
c.1948G>A
c.4342G>A (n.4342G>A)
c.10725G>A (p.Leu3575=)
n.4654G>A
c.10854G>A (p.Leu3618=)
 gnomAD v4
2g.73572728G>CCA347285861ALMS1c.10470G>C (p.Leu3490Phe)
c.3556G>C
c.7751G>C
c.4917G>C (p.Leu1639Phe)
c.7796G>C
c.10851G>C (p.Leu3617Phe)
c.1005G>C (p.Leu335Phe)
c.2207G>C
c.239G>C
c.1948G>C
c.4342G>C (n.4342G>C)
c.10725G>C (p.Leu3575Phe)
n.4654G>C
c.10854G>C (p.Leu3618Phe)
2g.73572728G>TCA347285863ALMS1c.10470G>T (p.Leu3490Phe)
c.3556G>T
c.7751G>T
c.4917G>T (p.Leu1639Phe)
c.7796G>T
c.10851G>T (p.Leu3617Phe)
c.1005G>T (p.Leu335Phe)
c.2207G>T
c.239G>T
c.1948G>T
c.4342G>T (n.4342G>T)
c.10725G>T (p.Leu3575Phe)
n.4654G>T
c.10854G>T (p.Leu3618Phe)
2g.73572729G>ACA1715072ALMS1c.10471G>A (p.Gly3491Ser)
c.3557G>A
c.7752G>A
c.4918G>A (p.Gly1640Ser)
c.7797G>A
c.10852G>A (p.Gly3618Ser)
c.1006G>A (p.Gly336Ser)
c.2208G>A
c.240G>A
c.1949G>A
c.4343G>A (n.4343G>A)
c.10726G>A (p.Gly3576Ser)
n.4655G>A
c.10855G>A (p.Gly3619Ser)
 dbSNP ExAC gnomAD v2
2g.73572729G>CCA347285868ALMS1c.10471G>C (p.Gly3491Arg)
c.3557G>C
c.7752G>C
c.4918G>C (p.Gly1640Arg)
c.7797G>C
c.10852G>C (p.Gly3618Arg)
c.1006G>C (p.Gly336Arg)
c.2208G>C
c.240G>C
c.1949G>C
c.4343G>C (n.4343G>C)
c.10726G>C (p.Gly3576Arg)
n.4655G>C
c.10855G>C (p.Gly3619Arg)
2g.73572729G=CA1261021749ALMS1c.10471G= (p.Gly3491=)
c.3557G=
c.7752G=
c.4918G= (p.Gly1640=)
c.7797G=
c.10852G= (p.Gly3618=)
c.1006G= (p.Gly336=)
c.2208G=
c.240G=
c.1949G=
c.4343G= (n.4343G=)
c.10726G= (p.Gly3576=)
n.4655G=
c.10855G= (p.Gly3619=)
2g.73572729G>TCA347285872ALMS1c.10471G>T (p.Gly3491Cys)
c.3557G>T
c.7752G>T
c.4918G>T (p.Gly1640Cys)
c.7797G>T
c.10852G>T (p.Gly3618Cys)
c.1006G>T (p.Gly336Cys)
c.2208G>T
c.240G>T
c.1949G>T
c.4343G>T (n.4343G>T)
c.10726G>T (p.Gly3576Cys)
n.4655G>T
c.10855G>T (p.Gly3619Cys)
2g.73572730G>ACA1715073ALMS1c.10472G>A (p.Gly3491Asp)
c.3558G>A
c.7753G>A
c.4919G>A (p.Gly1640Asp)
c.7798G>A
c.10853G>A (p.Gly3618Asp)
c.1007G>A (p.Gly336Asp)
c.2209G>A
c.241G>A
c.1950G>A
c.4344G>A (n.4344G>A)
c.10727G>A (p.Gly3576Asp)
n.4656G>A
c.10856G>A (p.Gly3619Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572730G>CCA347285878ALMS1c.10472G>C (p.Gly3491Ala)
c.3558G>C
c.7753G>C
c.4919G>C (p.Gly1640Ala)
c.7798G>C
c.10853G>C (p.Gly3618Ala)
c.1007G>C (p.Gly336Ala)
c.2209G>C
c.241G>C
c.1950G>C
c.4344G>C (n.4344G>C)
c.10727G>C (p.Gly3576Ala)
n.4656G>C
c.10856G>C (p.Gly3619Ala)
2g.73572730G=CA1261021753ALMS1c.10472G= (p.Gly3491=)
c.3558G=
c.7753G=
c.4919G= (p.Gly1640=)
c.7798G=
c.10853G= (p.Gly3618=)
c.1007G= (p.Gly336=)
c.2209G=
c.241G=
c.1950G=
c.4344G= (n.4344G=)
c.10727G= (p.Gly3576=)
n.4656G=
c.10856G= (p.Gly3619=)
2g.73572730G>TCA347285876ALMS1c.10472G>T (p.Gly3491Val)
c.3558G>T
c.7753G>T
c.4919G>T (p.Gly1640Val)
c.7798G>T
c.10853G>T (p.Gly3618Val)
c.1007G>T (p.Gly336Val)
c.2209G>T
c.241G>T
c.1950G>T
c.4344G>T (n.4344G>T)
c.10727G>T (p.Gly3576Val)
n.4656G>T
c.10856G>T (p.Gly3619Val)
2g.73572731T>ACA427024652ALMS1c.10473T>A (p.Gly3491=)
c.3559T>A
c.7754T>A
c.4920T>A (p.Gly1640=)
c.7799T>A
c.10854T>A (p.Gly3618=)
c.1008T>A (p.Gly336=)
c.2210T>A
c.242T>A
c.1951T>A
c.4345T>A (n.4345T>A)
c.10728T>A (p.Gly3576=)
n.4657T>A
c.10857T>A (p.Gly3619=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572731T>CCA427024654ALMS1c.10473T>C (p.Gly3491=)
c.3559T>C
c.7754T>C
c.4920T>C (p.Gly1640=)
c.7799T>C
c.10854T>C (p.Gly3618=)
c.1008T>C (p.Gly336=)
c.2210T>C
c.242T>C
c.1951T>C
c.4345T>C (n.4345T>C)
c.10728T>C (p.Gly3576=)
n.4657T>C
c.10857T>C (p.Gly3619=)
2g.73572731T>GCA427024655ALMS1c.10473T>G (p.Gly3491=)
c.3559T>G
c.7754T>G
c.4920T>G (p.Gly1640=)
c.7799T>G
c.10854T>G (p.Gly3618=)
c.1008T>G (p.Gly336=)
c.2210T>G
c.242T>G
c.1951T>G
c.4345T>G (n.4345T>G)
c.10728T>G (p.Gly3576=)
n.4657T>G
c.10857T>G (p.Gly3619=)
2g.73572731T=CA1261021758ALMS1c.10473T= (p.Gly3491=)
c.3559T=
c.7754T=
c.4920T= (p.Gly1640=)
c.7799T=
c.10854T= (p.Gly3618=)
c.1008T= (p.Gly336=)
c.2210T=
c.242T=
c.1951T=
c.4345T= (n.4345T=)
c.10728T= (p.Gly3576=)
n.4657T=
c.10857T= (p.Gly3619=)
2g.73572732G>ACA347285882ALMS1c.10474G>A (p.Asp3492Asn)
c.3560G>A
c.7755G>A
c.4921G>A (p.Asp1641Asn)
c.7800G>A
c.10855G>A (p.Asp3619Asn)
c.1009G>A (p.Asp337Asn)
c.2211G>A
c.243G>A
c.1952G>A
c.4346G>A (n.4346G>A)
c.10729G>A (p.Asp3577Asn)
n.4658G>A
c.10858G>A (p.Asp3620Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73572732G>CCA347285887ALMS1c.10474G>C (p.Asp3492His)
c.3560G>C
c.7755G>C
c.4921G>C (p.Asp1641His)
c.7800G>C
c.10855G>C (p.Asp3619His)
c.1009G>C (p.Asp337His)
c.2211G>C
c.243G>C
c.1952G>C
c.4346G>C (n.4346G>C)
c.10729G>C (p.Asp3577His)
n.4658G>C
c.10858G>C (p.Asp3620His)
2g.73572732G=CA1261021762ALMS1c.10474G= (p.Asp3492=)
c.3560G=
c.7755G=
c.4921G= (p.Asp1641=)
c.7800G=
c.10855G= (p.Asp3619=)
c.1009G= (p.Asp337=)
c.2211G=
c.243G=
c.1952G=
c.4346G= (n.4346G=)
c.10729G= (p.Asp3577=)
n.4658G=
c.10858G= (p.Asp3620=)
2g.73572732G>TCA347285885ALMS1c.10474G>T (p.Asp3492Tyr)
c.3560G>T
c.7755G>T
c.4921G>T (p.Asp1641Tyr)
c.7800G>T
c.10855G>T (p.Asp3619Tyr)
c.1009G>T (p.Asp337Tyr)
c.2211G>T
c.243G>T
c.1952G>T
c.4346G>T (n.4346G>T)
c.10729G>T (p.Asp3577Tyr)
n.4658G>T
c.10858G>T (p.Asp3620Tyr)
2g.73572733A=CA1261021765ALMS1c.10475A= (p.Asp3492=)
c.3561A=
c.7756A=
c.4922A= (p.Asp1641=)
c.7801A=
c.10856A= (p.Asp3619=)
c.1010A= (p.Asp337=)
c.2212A=
c.244A=
c.1953A=
c.4347A= (n.4347A=)
c.10730A= (p.Asp3577=)
n.4659A=
c.10859A= (p.Asp3620=)
2g.73572733A>CCA347285891ALMS1c.10475A>C (p.Asp3492Ala)
c.3561A>C
c.7756A>C
c.4922A>C (p.Asp1641Ala)
c.7801A>C
c.10856A>C (p.Asp3619Ala)
c.1010A>C (p.Asp337Ala)
c.2212A>C
c.244A>C
c.1953A>C
c.4347A>C (n.4347A>C)
c.10730A>C (p.Asp3577Ala)
n.4659A>C
c.10859A>C (p.Asp3620Ala)
2g.73572733A>GCA1715074ALMS1c.10475A>G (p.Asp3492Gly)
c.3561A>G
c.7756A>G
c.4922A>G (p.Asp1641Gly)
c.7801A>G
c.10856A>G (p.Asp3619Gly)
c.1010A>G (p.Asp337Gly)
c.2212A>G
c.244A>G
c.1953A>G
c.4347A>G (n.4347A>G)
c.10730A>G (p.Asp3577Gly)
n.4659A>G
c.10859A>G (p.Asp3620Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572733A>TCA347285893ALMS1c.10475A>T (p.Asp3492Val)
c.3561A>T
c.7756A>T
c.4922A>T (p.Asp1641Val)
c.7801A>T
c.10856A>T (p.Asp3619Val)
c.1010A>T (p.Asp337Val)
c.2212A>T
c.244A>T
c.1953A>T
c.4347A>T (n.4347A>T)
c.10730A>T (p.Asp3577Val)
n.4659A>T
c.10859A>T (p.Asp3620Val)
2g.73572734C>ACA347285898ALMS1c.10476C>A (p.Asp3492Glu)
c.3562C>A
c.7757C>A
c.4923C>A (p.Asp1641Glu)
c.7802C>A
c.10857C>A (p.Asp3619Glu)
c.1011C>A (p.Asp337Glu)
c.2213C>A
c.245C>A
c.1954C>A
c.4348C>A (n.4348C>A)
c.10731C>A (p.Asp3577Glu)
n.4660C>A
c.10860C>A (p.Asp3620Glu)
2g.73572734C>GCA347285900ALMS1c.10476C>G (p.Asp3492Glu)
c.3562C>G
c.7757C>G
c.4923C>G (p.Asp1641Glu)
c.7802C>G
c.10857C>G (p.Asp3619Glu)
c.1011C>G (p.Asp337Glu)
c.2213C>G
c.245C>G
c.1954C>G
c.4348C>G (n.4348C>G)
c.10731C>G (p.Asp3577Glu)
n.4660C>G
c.10860C>G (p.Asp3620Glu)
2g.73572734C>TCA427024662ALMS1c.10476C>T (p.Asp3492=)
c.3562C>T
c.7757C>T
c.4923C>T (p.Asp1641=)
c.7802C>T
c.10857C>T (p.Asp3619=)
c.1011C>T (p.Asp337=)
c.2213C>T
c.245C>T
c.1954C>T
c.4348C>T (n.4348C>T)
c.10731C>T (p.Asp3577=)
n.4660C>T
c.10860C>T (p.Asp3620=)
2g.73572735A=CA1261021775ALMS1c.10477A= (p.Arg3493=)
c.3563A=
c.7758A=
c.4924A= (p.Arg1642=)
c.7803A=
c.10858A= (p.Arg3620=)
c.1012A= (p.Arg338=)
c.2214A=
c.246A=
c.1955A=
c.4349A= (n.4349A=)
c.10732A= (p.Arg3578=)
n.4661A=
c.10861A= (p.Arg3621=)
2g.73572735A>CCA1715075ALMS1c.10477A>C (p.Arg3493=)
c.3563A>C
c.7758A>C
c.4924A>C (p.Arg1642=)
c.7803A>C
c.10858A>C (p.Arg3620=)
c.1012A>C (p.Arg338=)
c.2214A>C
c.246A>C
c.1955A>C
c.4349A>C (n.4349A>C)
c.10732A>C (p.Arg3578=)
n.4661A>C
c.10861A>C (p.Arg3621=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572735A>GCA347285905ALMS1c.10477A>G (p.Arg3493Gly)
c.3563A>G
c.7758A>G
c.4924A>G (p.Arg1642Gly)
c.7803A>G
c.10858A>G (p.Arg3620Gly)
c.1012A>G (p.Arg338Gly)
c.2214A>G
c.246A>G
c.1955A>G
c.4349A>G (n.4349A>G)
c.10732A>G (p.Arg3578Gly)
n.4661A>G
c.10861A>G (p.Arg3621Gly)
2g.73572735A>TCA347285907ALMS1c.10477A>T (p.Arg3493Trp)
c.3563A>T
c.7758A>T
c.4924A>T (p.Arg1642Trp)
c.7803A>T
c.10858A>T (p.Arg3620Trp)
c.1012A>T (p.Arg338Trp)
c.2214A>T
c.246A>T
c.1955A>T
c.4349A>T (n.4349A>T)
c.10732A>T (p.Arg3578Trp)
n.4661A>T
c.10861A>T (p.Arg3621Trp)
2g.73572736G>ACA347285910ALMS1c.10478G>A (p.Arg3493Lys)
c.3564G>A
c.7759G>A
c.4925G>A (p.Arg1642Lys)
c.7804G>A
c.10859G>A (p.Arg3620Lys)
c.1013G>A (p.Arg338Lys)
c.2215G>A
c.247G>A
c.1956G>A
c.4350G>A (n.4350G>A)
c.10733G>A (p.Arg3578Lys)
n.4662G>A
c.10862G>A (p.Arg3621Lys)
2g.73572736G>CCA347285912ALMS1c.10478G>C (p.Arg3493Thr)
c.3564G>C
c.7759G>C
c.4925G>C (p.Arg1642Thr)
c.7804G>C
c.10859G>C (p.Arg3620Thr)
c.1013G>C (p.Arg338Thr)
c.2215G>C
c.247G>C
c.1956G>C
c.4350G>C (n.4350G>C)
c.10733G>C (p.Arg3578Thr)
n.4662G>C
c.10862G>C (p.Arg3621Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.73572736G=CA1261021782ALMS1c.10478G= (p.Arg3493=)
c.3564G=
c.7759G=
c.4925G= (p.Arg1642=)
c.7804G=
c.10859G= (p.Arg3620=)
c.1013G= (p.Arg338=)
c.2215G=
c.247G=
c.1956G=
c.4350G= (n.4350G=)
c.10733G= (p.Arg3578=)
n.4662G=
c.10862G= (p.Arg3621=)
2g.73572736G>TCA347285915ALMS1c.10478G>T (p.Arg3493Met)
c.3564G>T
c.7759G>T
c.4925G>T (p.Arg1642Met)
c.7804G>T
c.10859G>T (p.Arg3620Met)
c.1013G>T (p.Arg338Met)
c.2215G>T
c.247G>T
c.1956G>T
c.4350G>T (n.4350G>T)
c.10733G>T (p.Arg3578Met)
n.4662G>T
c.10862G>T (p.Arg3621Met)
 gnomAD v4
2g.73572737delCA2580068172ALMS1c.10479del (p.Glu3495AsnfsTer?)
c.3565del
c.7760del
c.4926del (p.Glu1644AsnfsTer?)
c.7805del
c.10860del (p.Glu3622AsnfsTer?)
c.1014del (p.Glu340AsnfsTer?)
c.2216del
c.248del
c.1957del
c.4351del (n.4351del)
c.10734del (p.Glu3580AsnfsTer?)
n.4663del
c.10863del (p.Glu3623AsnfsTer?)
 ClinVar
2g.73572737G>ACA1715076ALMS1c.10479G>A (p.Arg3493=)
c.3565G>A
c.7760G>A
c.4926G>A (p.Arg1642=)
c.7805G>A
c.10860G>A (p.Arg3620=)
c.1014G>A (p.Arg338=)
c.2216G>A
c.248G>A
c.1957G>A
c.4351G>A (n.4351G>A)
c.10734G>A (p.Arg3578=)
n.4663G>A
c.10863G>A (p.Arg3621=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572737G>CCA1715077ALMS1c.10479G>C (p.Arg3493Ser)
c.3565G>C
c.7760G>C
c.4926G>C (p.Arg1642Ser)
c.7805G>C
c.10860G>C (p.Arg3620Ser)
c.1014G>C (p.Arg338Ser)
c.2216G>C
c.248G>C
c.1957G>C
c.4351G>C (n.4351G>C)
c.10734G>C (p.Arg3578Ser)
n.4663G>C
c.10863G>C (p.Arg3621Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572737G=CA1261021797ALMS1c.10479G= (p.Arg3493=)
c.3565G=
c.7760G=
c.4926G= (p.Arg1642=)
c.7805G=
c.10860G= (p.Arg3620=)
c.1014G= (p.Arg338=)
c.2216G=
c.248G=
c.1957G=
c.4351G= (n.4351G=)
c.10734G= (p.Arg3578=)
n.4663G=
c.10863G= (p.Arg3621=)
2g.73572737G>TCA347285920ALMS1c.10479G>T (p.Arg3493Ser)
c.3565G>T
c.7760G>T
c.4926G>T (p.Arg1642Ser)
c.7805G>T
c.10860G>T (p.Arg3620Ser)
c.1014G>T (p.Arg338Ser)
c.2216G>T
c.248G>T
c.1957G>T
c.4351G>T (n.4351G>T)
c.10734G>T (p.Arg3578Ser)
n.4663G>T
c.10863G>T (p.Arg3621Ser)
 gnomAD v4
2g.73572738A>CCA347285923ALMS1c.10480A>C (p.Lys3494Gln)
c.3566A>C
c.7761A>C
c.4927A>C (p.Lys1643Gln)
c.7806A>C
c.10861A>C (p.Lys3621Gln)
c.1015A>C (p.Lys339Gln)
c.2217A>C
c.249A>C
c.1958A>C
c.4352A>C (n.4352A>C)
c.10735A>C (p.Lys3579Gln)
n.4664A>C
c.10864A>C (p.Lys3622Gln)
2g.73572738A>GCA347285926ALMS1c.10480A>G (p.Lys3494Glu)
c.3566A>G
c.7761A>G
c.4927A>G (p.Lys1643Glu)
c.7806A>G
c.10861A>G (p.Lys3621Glu)
c.1015A>G (p.Lys339Glu)
c.2217A>G
c.249A>G
c.1958A>G
c.4352A>G (n.4352A>G)
c.10735A>G (p.Lys3579Glu)
n.4664A>G
c.10864A>G (p.Lys3622Glu)
2g.73572738A>TCA347285929ALMS1c.10480A>T (p.Lys3494Ter)
c.3566A>T
c.7761A>T
c.4927A>T (p.Lys1643Ter)
c.7806A>T
c.10861A>T (p.Lys3621Ter)
c.1015A>T (p.Lys339Ter)
c.2217A>T
c.249A>T
c.1958A>T
c.4352A>T (n.4352A>T)
c.10735A>T (p.Lys3579Ter)
n.4664A>T
c.10864A>T (p.Lys3622Ter)
2g.73572740dupCA1032214524ALMS1c.10482dup (p.Glu3495ArgfsTer9)
c.3568dup
c.7763dup
c.4929dup (p.Glu1644ArgfsTer9)
c.7808dup
c.10863dup (p.Glu3622ArgfsTer9)
c.1017dup (p.Glu340ArgfsTer9)
c.2219dup
c.251dup
c.1960dup
c.4354dup (n.4354dup)
c.10737dup (p.Glu3580ArgfsTer9)
n.4666dup
c.10866dup (p.Glu3623ArgfsTer9)
 dbSNP gnomAD v3 gnomAD v4
2g.73572739A=CA1261021812ALMS1c.10481A= (p.Lys3494=)
c.3567A=
c.7762A=
c.4928A= (p.Lys1643=)
c.7807A=
c.10862A= (p.Lys3621=)
c.1016A= (p.Lys339=)
c.2218A=
c.250A=
c.1959A=
c.4353A= (n.4353A=)
c.10736A= (p.Lys3579=)
n.4665A=
c.10865A= (p.Lys3622=)
2g.73572739A>CCA347285935ALMS1c.10481A>C (p.Lys3494Thr)
c.3567A>C
c.7762A>C
c.4928A>C (p.Lys1643Thr)
c.7807A>C
c.10862A>C (p.Lys3621Thr)
c.1016A>C (p.Lys339Thr)
c.2218A>C
c.250A>C
c.1959A>C
c.4353A>C (n.4353A>C)
c.10736A>C (p.Lys3579Thr)
n.4665A>C
c.10865A>C (p.Lys3622Thr)
2g.73572739A>GCA347285931ALMS1c.10481A>G (p.Lys3494Arg)
c.3567A>G
c.7762A>G
c.4928A>G (p.Lys1643Arg)
c.7807A>G
c.10862A>G (p.Lys3621Arg)
c.1016A>G (p.Lys339Arg)
c.2218A>G
c.250A>G
c.1959A>G
c.4353A>G (n.4353A>G)
c.10736A>G (p.Lys3579Arg)
n.4665A>G
c.10865A>G (p.Lys3622Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572739A>TCA347285933ALMS1c.10481A>T (p.Lys3494Ile)
c.3567A>T
c.7762A>T
c.4928A>T (p.Lys1643Ile)
c.7807A>T
c.10862A>T (p.Lys3621Ile)
c.1016A>T (p.Lys339Ile)
c.2218A>T
c.250A>T
c.1959A>T
c.4353A>T (n.4353A>T)
c.10736A>T (p.Lys3579Ile)
n.4665A>T
c.10865A>T (p.Lys3622Ile)
2g.73572740A=CA1261021818ALMS1c.10482A= (p.Lys3494=)
c.3568A=
c.7763A=
c.4929A= (p.Lys1643=)
c.7808A=
c.10863A= (p.Lys3621=)
c.1017A= (p.Lys339=)
c.2219A=
c.251A=
c.1960A=
c.4354A= (n.4354A=)
c.10737A= (p.Lys3579=)
n.4666A=
c.10866A= (p.Lys3622=)
2g.73572740A>CCA347285938ALMS1c.10482A>C (p.Lys3494Asn)
c.3568A>C
c.7763A>C
c.4929A>C (p.Lys1643Asn)
c.7808A>C
c.10863A>C (p.Lys3621Asn)
c.1017A>C (p.Lys339Asn)
c.2219A>C
c.251A>C
c.1960A>C
c.4354A>C (n.4354A>C)
c.10737A>C (p.Lys3579Asn)
n.4666A>C
c.10866A>C (p.Lys3622Asn)
2g.73572740A>GCA427023970ALMS1c.10482A>G (p.Lys3494=)
c.3568A>G
c.7763A>G
c.4929A>G (p.Lys1643=)
c.7808A>G
c.10863A>G (p.Lys3621=)
c.1017A>G (p.Lys339=)
c.2219A>G
c.251A>G
c.1960A>G
c.4354A>G (n.4354A>G)
c.10737A>G (p.Lys3579=)
n.4666A>G
c.10866A>G (p.Lys3622=)
 ClinVar dbSNP
2g.73572740A>TCA347285941ALMS1c.10482A>T (p.Lys3494Asn)
c.3568A>T
c.7763A>T
c.4929A>T (p.Lys1643Asn)
c.7808A>T
c.10863A>T (p.Lys3621Asn)
c.1017A>T (p.Lys339Asn)
c.2219A>T
c.251A>T
c.1960A>T
c.4354A>T (n.4354A>T)
c.10737A>T (p.Lys3579Asn)
n.4666A>T
c.10866A>T (p.Lys3622Asn)
2g.73572741G>ACA347285945ALMS1c.10483G>A (p.Glu3495Lys)
c.3569G>A
c.7764G>A
c.4930G>A (p.Glu1644Lys)
c.7809G>A
c.10864G>A (p.Glu3622Lys)
c.1018G>A (p.Glu340Lys)
c.2220G>A
c.252G>A
c.1961G>A
c.4355G>A (n.4355G>A)
c.10738G>A (p.Glu3580Lys)
n.4667G>A
c.10867G>A (p.Glu3623Lys)
2g.73572741G>CCA347285946ALMS1c.10483G>C (p.Glu3495Gln)
c.3569G>C
c.7764G>C
c.4930G>C (p.Glu1644Gln)
c.7809G>C
c.10864G>C (p.Glu3622Gln)
c.1018G>C (p.Glu340Gln)
c.2220G>C
c.252G>C
c.1961G>C
c.4355G>C (n.4355G>C)
c.10738G>C (p.Glu3580Gln)
n.4667G>C
c.10867G>C (p.Glu3623Gln)
2g.73572741G>TCA347285947ALMS1c.10483G>T (p.Glu3495Ter)
c.3569G>T
c.7764G>T
c.4930G>T (p.Glu1644Ter)
c.7809G>T
c.10864G>T (p.Glu3622Ter)
c.1018G>T (p.Glu340Ter)
c.2220G>T
c.252G>T
c.1961G>T
c.4355G>T (n.4355G>T)
c.10738G>T (p.Glu3580Ter)
n.4667G>T
c.10867G>T (p.Glu3623Ter)
2g.73572742A=CA1261021823ALMS1c.10484A= (p.Glu3495=)
c.3570A=
c.7765A=
c.4931A= (p.Glu1644=)
c.7810A=
c.10865A= (p.Glu3622=)
c.1019A= (p.Glu340=)
c.2221A=
c.253A=
c.1962A=
c.4356A= (n.4356A=)
c.10739A= (p.Glu3580=)
n.4668A=
c.10868A= (p.Glu3623=)
2g.73572742A>CCA347285948ALMS1c.10484A>C (p.Glu3495Ala)
c.3570A>C
c.7765A>C
c.4931A>C (p.Glu1644Ala)
c.7810A>C
c.10865A>C (p.Glu3622Ala)
c.1019A>C (p.Glu340Ala)
c.2221A>C
c.253A>C
c.1962A>C
c.4356A>C (n.4356A>C)
c.10739A>C (p.Glu3580Ala)
n.4668A>C
c.10868A>C (p.Glu3623Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.73572742A>GCA347285949ALMS1c.10484A>G (p.Glu3495Gly)
c.3570A>G
c.7765A>G
c.4931A>G (p.Glu1644Gly)
c.7810A>G
c.10865A>G (p.Glu3622Gly)
c.1019A>G (p.Glu340Gly)
c.2221A>G
c.253A>G
c.1962A>G
c.4356A>G (n.4356A>G)
c.10739A>G (p.Glu3580Gly)
n.4668A>G
c.10868A>G (p.Glu3623Gly)
2g.73572742A>TCA347285950ALMS1c.10484A>T (p.Glu3495Val)
c.3570A>T
c.7765A>T
c.4931A>T (p.Glu1644Val)
c.7810A>T
c.10865A>T (p.Glu3622Val)
c.1019A>T (p.Glu340Val)
c.2221A>T
c.253A>T
c.1962A>T
c.4356A>T (n.4356A>T)
c.10739A>T (p.Glu3580Val)
n.4668A>T
c.10868A>T (p.Glu3623Val)
2g.73572743A=CA1261021830ALMS1c.10485A= (p.Glu3495=)
c.3571A=
c.7766A=
c.4932A= (p.Glu1644=)
c.7811A=
c.10866A= (p.Glu3622=)
c.1020A= (p.Glu340=)
c.2222A=
c.254A=
c.1963A=
c.4357A= (n.4357A=)
c.10740A= (p.Glu3580=)
n.4669A=
c.10869A= (p.Glu3623=)
2g.73572743A>CCA347285951ALMS1c.10485A>C (p.Glu3495Asp)
c.3571A>C
c.7766A>C
c.4932A>C (p.Glu1644Asp)
c.7811A>C
c.10866A>C (p.Glu3622Asp)
c.1020A>C (p.Glu340Asp)
c.2222A>C
c.254A>C
c.1963A>C
c.4357A>C (n.4357A>C)
c.10740A>C (p.Glu3580Asp)
n.4669A>C
c.10869A>C (p.Glu3623Asp)
2g.73572743A>GCA1715078ALMS1c.10485A>G (p.Glu3495=)
c.3571A>G
c.7766A>G
c.4932A>G (p.Glu1644=)
c.7811A>G
c.10866A>G (p.Glu3622=)
c.1020A>G (p.Glu340=)
c.2222A>G
c.254A>G
c.1963A>G
c.4357A>G (n.4357A>G)
c.10740A>G (p.Glu3580=)
n.4669A>G
c.10869A>G (p.Glu3623=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572743A>TCA347285952ALMS1c.10485A>T (p.Glu3495Asp)
c.3571A>T
c.7766A>T
c.4932A>T (p.Glu1644Asp)
c.7811A>T
c.10866A>T (p.Glu3622Asp)
c.1020A>T (p.Glu340Asp)
c.2222A>T
c.254A>T
c.1963A>T
c.4357A>T (n.4357A>T)
c.10740A>T (p.Glu3580Asp)
n.4669A>T
c.10869A>T (p.Glu3623Asp)
2g.73572744C>ACA347285954ALMS1c.10486C>A (p.Leu3496Met)
c.3572C>A
c.7767C>A
c.4933C>A (p.Leu1645Met)
c.7812C>A
c.10867C>A (p.Leu3623Met)
c.1021C>A (p.Leu341Met)
c.2223C>A
c.255C>A
c.1964C>A
c.4358C>A (n.4358C>A)
c.10741C>A (p.Leu3581Met)
n.4670C>A
c.10870C>A (p.Leu3624Met)
2g.73572744C=CA1261021839ALMS1c.10486C= (p.Leu3496=)
c.3572C=
c.7767C=
c.4933C= (p.Leu1645=)
c.7812C=
c.10867C= (p.Leu3623=)
c.1021C= (p.Leu341=)
c.2223C=
c.255C=
c.1964C=
c.4358C= (n.4358C=)
c.10741C= (p.Leu3581=)
n.4670C=
c.10870C= (p.Leu3624=)
2g.73572744C>GCA347285953ALMS1c.10486C>G (p.Leu3496Val)
c.3572C>G
c.7767C>G
c.4933C>G (p.Leu1645Val)
c.7812C>G
c.10867C>G (p.Leu3623Val)
c.1021C>G (p.Leu341Val)
c.2223C>G
c.255C>G
c.1964C>G
c.4358C>G (n.4358C>G)
c.10741C>G (p.Leu3581Val)
n.4670C>G
c.10870C>G (p.Leu3624Val)
 dbSNP gnomAD v2 gnomAD v4
2g.73572744C>TCA1715079ALMS1c.10486C>T (p.Leu3496=)
c.3572C>T
c.7767C>T
c.4933C>T (p.Leu1645=)
c.7812C>T
c.10867C>T (p.Leu3623=)
c.1021C>T (p.Leu341=)
c.2223C>T
c.255C>T
c.1964C>T
c.4358C>T (n.4358C>T)
c.10741C>T (p.Leu3581=)
n.4670C>T
c.10870C>T (p.Leu3624=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572745T>ACA347285957ALMS1c.10487T>A (p.Leu3496Gln)
c.3573T>A
c.7768T>A
c.4934T>A (p.Leu1645Gln)
c.7813T>A
c.10868T>A (p.Leu3623Gln)
c.1022T>A (p.Leu341Gln)
c.2224T>A
c.256T>A
c.1965T>A
c.4359T>A (n.4359T>A)
c.10742T>A (p.Leu3581Gln)
n.4671T>A
c.10871T>A (p.Leu3624Gln)
2g.73572745T>CCA347285959ALMS1c.10487T>C (p.Leu3496Pro)
c.3573T>C
c.7768T>C
c.4934T>C (p.Leu1645Pro)
c.7813T>C
c.10868T>C (p.Leu3623Pro)
c.1022T>C (p.Leu341Pro)
c.2224T>C
c.256T>C
c.1965T>C
c.4359T>C (n.4359T>C)
c.10742T>C (p.Leu3581Pro)
n.4671T>C
c.10871T>C (p.Leu3624Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572745T>GCA347285960ALMS1c.10487T>G (p.Leu3496Arg)
c.3573T>G
c.7768T>G
c.4934T>G (p.Leu1645Arg)
c.7813T>G
c.10868T>G (p.Leu3623Arg)
c.1022T>G (p.Leu341Arg)
c.2224T>G
c.256T>G
c.1965T>G
c.4359T>G (n.4359T>G)
c.10742T>G (p.Leu3581Arg)
n.4671T>G
c.10871T>G (p.Leu3624Arg)
2g.73572745T=CA1261021842ALMS1c.10487T= (p.Leu3496=)
c.3573T=
c.7768T=
c.4934T= (p.Leu1645=)
c.7813T=
c.10868T= (p.Leu3623=)
c.1022T= (p.Leu341=)
c.2224T=
c.256T=
c.1965T=
c.4359T= (n.4359T=)
c.10742T= (p.Leu3581=)
n.4671T=
c.10871T= (p.Leu3624=)
2g.73572746G>ACA1715080ALMS1c.10488G>A (p.Leu3496=)
c.3574G>A
c.7769G>A
c.4935G>A (p.Leu1645=)
c.7814G>A
c.10869G>A (p.Leu3623=)
c.1023G>A (p.Leu341=)
c.2225G>A
c.257G>A
c.1966G>A
c.4360G>A (n.4360G>A)
c.10743G>A (p.Leu3581=)
n.4672G>A
c.10872G>A (p.Leu3624=)
 dbSNP ExAC gnomAD v2
2g.73572746G>CCA427023982ALMS1c.10488G>C (p.Leu3496=)
c.3574G>C
c.7769G>C
c.4935G>C (p.Leu1645=)
c.7814G>C
c.10869G>C (p.Leu3623=)
c.1023G>C (p.Leu341=)
c.2225G>C
c.257G>C
c.1966G>C
c.4360G>C (n.4360G>C)
c.10743G>C (p.Leu3581=)
n.4672G>C
c.10872G>C (p.Leu3624=)
 ClinVar dbSNP
2g.73572746G=CA1261021849ALMS1c.10488G= (p.Leu3496=)
c.3574G=
c.7769G=
c.4935G= (p.Leu1645=)
c.7814G=
c.10869G= (p.Leu3623=)
c.1023G= (p.Leu341=)
c.2225G=
c.257G=
c.1966G=
c.4360G= (n.4360G=)
c.10743G= (p.Leu3581=)
n.4672G=
c.10872G= (p.Leu3624=)
2g.73572746G>TCA427023980ALMS1c.10488G>T (p.Leu3496=)
c.3574G>T
c.7769G>T
c.4935G>T (p.Leu1645=)
c.7814G>T
c.10869G>T (p.Leu3623=)
c.1023G>T (p.Leu341=)
c.2225G>T
c.257G>T
c.1966G>T
c.4360G>T (n.4360G>T)
c.10743G>T (p.Leu3581=)
n.4672G>T
c.10872G>T (p.Leu3624=)
2g.73572747T>ACA347285963ALMS1c.10489T>A (p.Ser3497Thr)
c.3575T>A
c.7770T>A
c.4936T>A (p.Ser1646Thr)
c.7815T>A
c.10870T>A (p.Ser3624Thr)
c.1024T>A (p.Ser342Thr)
c.2226T>A
c.258T>A
c.1967T>A
c.4361T>A (n.4361T>A)
c.10744T>A (p.Ser3582Thr)
n.4673T>A
c.10873T>A (p.Ser3625Thr)
2g.73572747T>CCA347285964ALMS1c.10489T>C (p.Ser3497Pro)
c.3575T>C
c.7770T>C
c.4936T>C (p.Ser1646Pro)
c.7815T>C
c.10870T>C (p.Ser3624Pro)
c.1024T>C (p.Ser342Pro)
c.2226T>C
c.258T>C
c.1967T>C
c.4361T>C (n.4361T>C)
c.10744T>C (p.Ser3582Pro)
n.4673T>C
c.10873T>C (p.Ser3625Pro)
 ClinVar dbSNP
2g.73572747T>GCA347285966ALMS1c.10489T>G (p.Ser3497Ala)
c.3575T>G
c.7770T>G
c.4936T>G (p.Ser1646Ala)
c.7815T>G
c.10870T>G (p.Ser3624Ala)
c.1024T>G (p.Ser342Ala)
c.2226T>G
c.258T>G
c.1967T>G
c.4361T>G (n.4361T>G)
c.10744T>G (p.Ser3582Ala)
n.4673T>G
c.10873T>G (p.Ser3625Ala)
2g.73572747T=CA1261021858ALMS1c.10489T= (p.Ser3497=)
c.3575T=
c.7770T=
c.4936T= (p.Ser1646=)
c.7815T=
c.10870T= (p.Ser3624=)
c.1024T= (p.Ser342=)
c.2226T=
c.258T=
c.1967T=
c.4361T= (n.4361T=)
c.10744T= (p.Ser3582=)
n.4673T=
c.10873T= (p.Ser3625=)
2g.73572748C>ACA347285968ALMS1c.10490C>A (p.Ser3497Tyr)
c.3576C>A
c.7771C>A
c.4937C>A (p.Ser1646Tyr)
c.7816C>A
c.10871C>A (p.Ser3624Tyr)
c.1025C>A (p.Ser342Tyr)
c.2227C>A
c.259C>A
c.1968C>A
c.4362C>A (n.4362C>A)
c.10745C>A (p.Ser3582Tyr)
n.4674C>A
c.10874C>A (p.Ser3625Tyr)
2g.73572748C>GCA347285969ALMS1c.10490C>G (p.Ser3497Cys)
c.3576C>G
c.7771C>G
c.4937C>G (p.Ser1646Cys)
c.7816C>G
c.10871C>G (p.Ser3624Cys)
c.1025C>G (p.Ser342Cys)
c.2227C>G
c.259C>G
c.1968C>G
c.4362C>G (n.4362C>G)
c.10745C>G (p.Ser3582Cys)
n.4674C>G
c.10874C>G (p.Ser3625Cys)
2g.73572748C>TCA347285970ALMS1c.10490C>T (p.Ser3497Phe)
c.3576C>T
c.7771C>T
c.4937C>T (p.Ser1646Phe)
c.7816C>T
c.10871C>T (p.Ser3624Phe)
c.1025C>T (p.Ser342Phe)
c.2227C>T
c.259C>T
c.1968C>T
c.4362C>T (n.4362C>T)
c.10745C>T (p.Ser3582Phe)
n.4674C>T
c.10874C>T (p.Ser3625Phe)
2g.73572749C>ACA427023984ALMS1c.10491C>A (p.Ser3497=)
c.3577C>A
c.7772C>A
c.4938C>A (p.Ser1646=)
c.7817C>A
c.10872C>A (p.Ser3624=)
c.1026C>A (p.Ser342=)
c.2228C>A
c.260C>A
c.1969C>A
c.4363C>A (n.4363C>A)
c.10746C>A (p.Ser3582=)
n.4675C>A
c.10875C>A (p.Ser3625=)
 gnomAD v4
2g.73572749C=CA1261021863ALMS1c.10491C= (p.Ser3497=)
c.3577C=
c.7772C=
c.4938C= (p.Ser1646=)
c.7817C=
c.10872C= (p.Ser3624=)
c.1026C= (p.Ser342=)
c.2228C=
c.260C=
c.1969C=
c.4363C= (n.4363C=)
c.10746C= (p.Ser3582=)
n.4675C=
c.10875C= (p.Ser3625=)
2g.73572749C>GCA427023986ALMS1c.10491C>G (p.Ser3497=)
c.3577C>G
c.7772C>G
c.4938C>G (p.Ser1646=)
c.7817C>G
c.10872C>G (p.Ser3624=)
c.1026C>G (p.Ser342=)
c.2228C>G
c.260C>G
c.1969C>G
c.4363C>G (n.4363C>G)
c.10746C>G (p.Ser3582=)
n.4675C>G
c.10875C>G (p.Ser3625=)
2g.73572749C>TCA50386517ALMS1c.10491C>T (p.Ser3497=)
c.3577C>T
c.7772C>T
c.4938C>T (p.Ser1646=)
c.7817C>T
c.10872C>T (p.Ser3624=)
c.1026C>T (p.Ser342=)
c.2228C>T
c.260C>T
c.1969C>T
c.4363C>T (n.4363C>T)
c.10746C>T (p.Ser3582=)
n.4675C>T
c.10875C>T (p.Ser3625=)
 ClinVar dbSNP
2g.73572750T>ACA347285971ALMS1c.10492T>A (p.Leu3498Met)
c.3578T>A
c.7773T>A
c.4939T>A (p.Leu1647Met)
c.7818T>A
c.10873T>A (p.Leu3625Met)
c.1027T>A (p.Leu343Met)
c.2229T>A
c.261T>A
c.1970T>A
c.4364T>A (n.4364T>A)
c.10747T>A (p.Leu3583Met)
n.4676T>A
c.10876T>A (p.Leu3626Met)
 ClinVar
2g.73572750T>CCA1715081ALMS1c.10492T>C (p.Leu3498=)
c.3578T>C
c.7773T>C
c.4939T>C (p.Leu1647=)
c.7818T>C
c.10873T>C (p.Leu3625=)
c.1027T>C (p.Leu343=)
c.2229T>C
c.261T>C
c.1970T>C
c.4364T>C (n.4364T>C)
c.10747T>C (p.Leu3583=)
n.4676T>C
c.10876T>C (p.Leu3626=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572750T>GCA347285974ALMS1c.10492T>G (p.Leu3498Val)
c.3578T>G
c.7773T>G
c.4939T>G (p.Leu1647Val)
c.7818T>G
c.10873T>G (p.Leu3625Val)
c.1027T>G (p.Leu343Val)
c.2229T>G
c.261T>G
c.1970T>G
c.4364T>G (n.4364T>G)
c.10747T>G (p.Leu3583Val)
n.4676T>G
c.10876T>G (p.Leu3626Val)
2g.73572750T=CA1261021866ALMS1c.10492T= (p.Leu3498=)
c.3578T=
c.7773T=
c.4939T= (p.Leu1647=)
c.7818T=
c.10873T= (p.Leu3625=)
c.1027T= (p.Leu343=)
c.2229T=
c.261T=
c.1970T=
c.4364T= (n.4364T=)
c.10747T= (p.Leu3583=)
n.4676T=
c.10876T= (p.Leu3626=)
2g.73572751T>ACA347285976ALMS1c.10493T>A (p.Leu3498Ter)
c.3579T>A
c.7774T>A
c.4940T>A (p.Leu1647Ter)
c.7819T>A
c.10874T>A (p.Leu3625Ter)
c.1028T>A (p.Leu343Ter)
c.2230T>A
c.262T>A
c.1971T>A
c.4365T>A (n.4365T>A)
c.10748T>A (p.Leu3583Ter)
n.4677T>A
c.10877T>A (p.Leu3626Ter)
 ClinVar
2g.73572751T>CCA347285980ALMS1c.10493T>C (p.Leu3498Ser)
c.3579T>C
c.7774T>C
c.4940T>C (p.Leu1647Ser)
c.7819T>C
c.10874T>C (p.Leu3625Ser)
c.1028T>C (p.Leu343Ser)
c.2230T>C
c.262T>C
c.1971T>C
c.4365T>C (n.4365T>C)
c.10748T>C (p.Leu3583Ser)
n.4677T>C
c.10877T>C (p.Leu3626Ser)
2g.73572751T>GCA347285978ALMS1c.10493T>G (p.Leu3498Trp)
c.3579T>G
c.7774T>G
c.4940T>G (p.Leu1647Trp)
c.7819T>G
c.10874T>G (p.Leu3625Trp)
c.1028T>G (p.Leu343Trp)
c.2230T>G
c.262T>G
c.1971T>G
c.4365T>G (n.4365T>G)
c.10748T>G (p.Leu3583Trp)
n.4677T>G
c.10877T>G (p.Leu3626Trp)
2g.73572752G>ACA427023992ALMS1c.10494G>A (p.Leu3498=)
c.3580G>A
c.7775G>A
c.4941G>A (p.Leu1647=)
c.7820G>A
c.10875G>A (p.Leu3625=)
c.1029G>A (p.Leu343=)
c.2231G>A
c.263G>A
c.1972G>A
c.4366G>A (n.4366G>A)
c.10749G>A (p.Leu3583=)
n.4678G>A
c.10878G>A (p.Leu3626=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572752G>CCA347285982ALMS1c.10494G>C (p.Leu3498Phe)
c.3580G>C
c.7775G>C
c.4941G>C (p.Leu1647Phe)
c.7820G>C
c.10875G>C (p.Leu3625Phe)
c.1029G>C (p.Leu343Phe)
c.2231G>C
c.263G>C
c.1972G>C
c.4366G>C (n.4366G>C)
c.10749G>C (p.Leu3583Phe)
n.4678G>C
c.10878G>C (p.Leu3626Phe)
 gnomAD v4
2g.73572752G=CA1261021871ALMS1c.10494G= (p.Leu3498=)
c.3580G=
c.7775G=
c.4941G= (p.Leu1647=)
c.7820G=
c.10875G= (p.Leu3625=)
c.1029G= (p.Leu343=)
c.2231G=
c.263G=
c.1972G=
c.4366G= (n.4366G=)
c.10749G= (p.Leu3583=)
n.4678G=
c.10878G= (p.Leu3626=)
2g.73572752G>TCA347285983ALMS1c.10494G>T (p.Leu3498Phe)
c.3580G>T
c.7775G>T
c.4941G>T (p.Leu1647Phe)
c.7820G>T
c.10875G>T (p.Leu3625Phe)
c.1029G>T (p.Leu343Phe)
c.2231G>T
c.263G>T
c.1972G>T
c.4366G>T (n.4366G>T)
c.10749G>T (p.Leu3583Phe)
n.4678G>T
c.10878G>T (p.Leu3626Phe)
2g.73572753delCA2739271097ALMS1c.10495del (p.Val3499TrpfsTer?)
c.3581del
c.7776del
c.4942del (p.Val1648TrpfsTer?)
c.7821del
c.10876del (p.Val3626TrpfsTer?)
c.1030del (p.Val344TrpfsTer?)
c.2232del
c.264del
c.1973del
c.4367del (n.4367del)
c.10750del (p.Val3584TrpfsTer?)
n.4679del
c.10879del (p.Val3627TrpfsTer?)
 ClinVar
2g.73572753G>ACA347285985ALMS1c.10495G>A (p.Val3499Met)
c.3581G>A
c.7776G>A
c.4942G>A (p.Val1648Met)
c.7821G>A
c.10876G>A (p.Val3626Met)
c.1030G>A (p.Val344Met)
c.2232G>A
c.264G>A
c.1973G>A
c.4367G>A (n.4367G>A)
c.10750G>A (p.Val3584Met)
n.4679G>A
c.10879G>A (p.Val3627Met)
 dbSNP
2g.73572753G>CCA347285987ALMS1c.10495G>C (p.Val3499Leu)
c.3581G>C
c.7776G>C
c.4942G>C (p.Val1648Leu)
c.7821G>C
c.10876G>C (p.Val3626Leu)
c.1030G>C (p.Val344Leu)
c.2232G>C
c.264G>C
c.1973G>C
c.4367G>C (n.4367G>C)
c.10750G>C (p.Val3584Leu)
n.4679G>C
c.10879G>C (p.Val3627Leu)
2g.73572753G=CA1261021876ALMS1c.10495G= (p.Val3499=)
c.3581G=
c.7776G=
c.4942G= (p.Val1648=)
c.7821G=
c.10876G= (p.Val3626=)
c.1030G= (p.Val344=)
c.2232G=
c.264G=
c.1973G=
c.4367G= (n.4367G=)
c.10750G= (p.Val3584=)
n.4679G=
c.10879G= (p.Val3627=)
2g.73572753G>TCA347285989ALMS1c.10495G>T (p.Val3499Leu)
c.3581G>T
c.7776G>T
c.4942G>T (p.Val1648Leu)
c.7821G>T
c.10876G>T (p.Val3626Leu)
c.1030G>T (p.Val344Leu)
c.2232G>T
c.264G>T
c.1973G>T
c.4367G>T (n.4367G>T)
c.10750G>T (p.Val3584Leu)
n.4679G>T
c.10879G>T (p.Val3627Leu)
2g.73572754T>ACA347285990ALMS1c.10496T>A (p.Val3499Glu)
c.3582T>A
c.7777T>A
c.4943T>A (p.Val1648Glu)
c.7822T>A
c.10877T>A (p.Val3626Glu)
c.1031T>A (p.Val344Glu)
c.2233T>A
c.265T>A
c.1974T>A
c.4368T>A (n.4368T>A)
c.10751T>A (p.Val3584Glu)
n.4680T>A
c.10880T>A (p.Val3627Glu)
2g.73572754T>CCA347285991ALMS1c.10496T>C (p.Val3499Ala)
c.3582T>C
c.7777T>C
c.4943T>C (p.Val1648Ala)
c.7822T>C
c.10877T>C (p.Val3626Ala)
c.1031T>C (p.Val344Ala)
c.2233T>C
c.265T>C
c.1974T>C
c.4368T>C (n.4368T>C)
c.10751T>C (p.Val3584Ala)
n.4680T>C
c.10880T>C (p.Val3627Ala)
2g.73572754T>GCA347285993ALMS1c.10496T>G (p.Val3499Gly)
c.3582T>G
c.7777T>G
c.4943T>G (p.Val1648Gly)
c.7822T>G
c.10877T>G (p.Val3626Gly)
c.1031T>G (p.Val344Gly)
c.2233T>G
c.265T>G
c.1974T>G
c.4368T>G (n.4368T>G)
c.10751T>G (p.Val3584Gly)
n.4680T>G
c.10880T>G (p.Val3627Gly)
2g.73572755G>ACA427023994ALMS1c.10497G>A (p.Val3499=)
c.3583G>A
c.7778G>A
c.4944G>A (p.Val1648=)
c.7823G>A
c.10878G>A (p.Val3626=)
c.1032G>A (p.Val344=)
c.2234G>A
c.266G>A
c.1975G>A
c.4369G>A (n.4369G>A)
c.10752G>A (p.Val3584=)
n.4681G>A
c.10881G>A (p.Val3627=)
2g.73572755G>CCA427023995ALMS1c.10497G>C (p.Val3499=)
c.3583G>C
c.7778G>C
c.4944G>C (p.Val1648=)
c.7823G>C
c.10878G>C (p.Val3626=)
c.1032G>C (p.Val344=)
c.2234G>C
c.266G>C
c.1975G>C
c.4369G>C (n.4369G>C)
c.10752G>C (p.Val3584=)
n.4681G>C
c.10881G>C (p.Val3627=)
2g.73572755G>TCA427023996ALMS1c.10497G>T (p.Val3499=)
c.3583G>T
c.7778G>T
c.4944G>T (p.Val1648=)
c.7823G>T
c.10878G>T (p.Val3626=)
c.1032G>T (p.Val344=)
c.2234G>T
c.266G>T
c.1975G>T
c.4369G>T (n.4369G>T)
c.10752G>T (p.Val3584=)
n.4681G>T
c.10881G>T (p.Val3627=)
2g.73572756G>ACA347285996ALMS1c.10498G>A (p.Asp3500Asn)
c.3584G>A
c.7779G>A
c.4945G>A (p.Asp1649Asn)
c.7824G>A
c.10879G>A (p.Asp3627Asn)
c.1033G>A (p.Asp345Asn)
c.2235G>A
c.267G>A
c.1976G>A
c.4370G>A (n.4370G>A)
c.10753G>A (p.Asp3585Asn)
n.4682G>A
c.10882G>A (p.Asp3628Asn)
 gnomAD v4
2g.73572756G>CCA347285997ALMS1c.10498G>C (p.Asp3500His)
c.3584G>C
c.7779G>C
c.4945G>C (p.Asp1649His)
c.7824G>C
c.10879G>C (p.Asp3627His)
c.1033G>C (p.Asp345His)
c.2235G>C
c.267G>C
c.1976G>C
c.4370G>C (n.4370G>C)
c.10753G>C (p.Asp3585His)
n.4682G>C
c.10882G>C (p.Asp3628His)
2g.73572756G>TCA347285999ALMS1c.10498G>T (p.Asp3500Tyr)
c.3584G>T
c.7779G>T
c.4945G>T (p.Asp1649Tyr)
c.7824G>T
c.10879G>T (p.Asp3627Tyr)
c.1033G>T (p.Asp345Tyr)
c.2235G>T
c.267G>T
c.1976G>T
c.4370G>T (n.4370G>T)
c.10753G>T (p.Asp3585Tyr)
n.4682G>T
c.10882G>T (p.Asp3628Tyr)
2g.73572757A>CCA347286005ALMS1c.10499A>C (p.Asp3500Ala)
c.3585A>C
c.7780A>C
c.4946A>C (p.Asp1649Ala)
c.7825A>C
c.10880A>C (p.Asp3627Ala)
c.1034A>C (p.Asp345Ala)
c.2236A>C
c.268A>C
c.1977A>C
c.4371A>C (n.4371A>C)
c.10754A>C (p.Asp3585Ala)
n.4683A>C
c.10883A>C (p.Asp3628Ala)
2g.73572757A>GCA347286003ALMS1c.10499A>G (p.Asp3500Gly)
c.3585A>G
c.7780A>G
c.4946A>G (p.Asp1649Gly)
c.7825A>G
c.10880A>G (p.Asp3627Gly)
c.1034A>G (p.Asp345Gly)
c.2236A>G
c.268A>G
c.1977A>G
c.4371A>G (n.4371A>G)
c.10754A>G (p.Asp3585Gly)
n.4683A>G
c.10883A>G (p.Asp3628Gly)
 gnomAD v4
2g.73572757A>TCA347286001ALMS1c.10499A>T (p.Asp3500Val)
c.3585A>T
c.7780A>T
c.4946A>T (p.Asp1649Val)
c.7825A>T
c.10880A>T (p.Asp3627Val)
c.1034A>T (p.Asp345Val)
c.2236A>T
c.268A>T
c.1977A>T
c.4371A>T (n.4371A>T)
c.10754A>T (p.Asp3585Val)
n.4683A>T
c.10883A>T (p.Asp3628Val)
2g.73572758C>ACA347286008ALMS1c.10500C>A (p.Asp3500Glu)
c.3586C>A
c.7781C>A
c.4947C>A (p.Asp1649Glu)
c.7826C>A
c.10881C>A (p.Asp3627Glu)
c.1035C>A (p.Asp345Glu)
c.2237C>A
c.269C>A
c.1978C>A
c.4372C>A (n.4372C>A)
c.10755C>A (p.Asp3585Glu)
n.4684C>A
c.10884C>A (p.Asp3628Glu)
2g.73572758C>GCA347286007ALMS1c.10500C>G (p.Asp3500Glu)
c.3586C>G
c.7781C>G
c.4947C>G (p.Asp1649Glu)
c.7826C>G
c.10881C>G (p.Asp3627Glu)
c.1035C>G (p.Asp345Glu)
c.2237C>G
c.269C>G
c.1978C>G
c.4372C>G (n.4372C>G)
c.10755C>G (p.Asp3585Glu)
n.4684C>G
c.10884C>G (p.Asp3628Glu)
2g.73572758C>TCA427024002ALMS1c.10500C>T (p.Asp3500=)
c.3586C>T
c.7781C>T
c.4947C>T (p.Asp1649=)
c.7826C>T
c.10881C>T (p.Asp3627=)
c.1035C>T (p.Asp345=)
c.2237C>T
c.269C>T
c.1978C>T
c.4372C>T (n.4372C>T)
c.10755C>T (p.Asp3585=)
n.4684C>T
c.10884C>T (p.Asp3628=)
2g.73572759C>ACA427024004ALMS1c.10501C>A (p.Arg3501=)
c.3587C>A
c.7782C>A
c.4948C>A (p.Arg1650=)
c.7827C>A
c.10882C>A (p.Arg3628=)
c.1036C>A (p.Arg346=)
c.2238C>A
c.270C>A
c.1979C>A
c.4373C>A (n.4373C>A)
c.10756C>A (p.Arg3586=)
n.4685C>A
c.10885C>A (p.Arg3629=)
2g.73572759C=CA1261021881ALMS1c.10501C= (p.Arg3501=)
c.3587C=
c.7782C=
c.4948C= (p.Arg1650=)
c.7827C=
c.10882C= (p.Arg3628=)
c.1036C= (p.Arg346=)
c.2238C=
c.270C=
c.1979C=
c.4373C= (n.4373C=)
c.10756C= (p.Arg3586=)
n.4685C=
c.10885C= (p.Arg3629=)
2g.73572759C>GCA347286011ALMS1c.10501C>G (p.Arg3501Gly)
c.3587C>G
c.7782C>G
c.4948C>G (p.Arg1650Gly)
c.7827C>G
c.10882C>G (p.Arg3628Gly)
c.1036C>G (p.Arg346Gly)
c.2238C>G
c.270C>G
c.1979C>G
c.4373C>G (n.4373C>G)
c.10756C>G (p.Arg3586Gly)
n.4685C>G
c.10885C>G (p.Arg3629Gly)
2g.73572759C>TCA347286010ALMS1c.10501C>T (p.Arg3501Ter)
c.3587C>T
c.7782C>T
c.4948C>T (p.Arg1650Ter)
c.7827C>T
c.10882C>T (p.Arg3628Ter)
c.1036C>T (p.Arg346Ter)
c.2238C>T
c.270C>T
c.1979C>T
c.4373C>T (n.4373C>T)
c.10756C>T (p.Arg3586Ter)
n.4685C>T
c.10885C>T (p.Arg3629Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73572760G>ACA1715082ALMS1c.10502G>A (p.Arg3501Gln)
c.3588G>A
c.7783G>A
c.4949G>A (p.Arg1650Gln)
c.7828G>A
c.10883G>A (p.Arg3628Gln)
c.1037G>A (p.Arg346Gln)
c.2239G>A
c.271G>A
c.1980G>A
c.4374G>A (n.4374G>A)
c.10757G>A (p.Arg3586Gln)
n.4686G>A
c.10886G>A (p.Arg3629Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572760G>CCA347286014ALMS1c.10502G>C (p.Arg3501Pro)
c.3588G>C
c.7783G>C
c.4949G>C (p.Arg1650Pro)
c.7828G>C
c.10883G>C (p.Arg3628Pro)
c.1037G>C (p.Arg346Pro)
c.2239G>C
c.271G>C
c.1980G>C
c.4374G>C (n.4374G>C)
c.10757G>C (p.Arg3586Pro)
n.4686G>C
c.10886G>C (p.Arg3629Pro)
 ClinVar dbSNP gnomAD v2
2g.73572760G=CA1261021888ALMS1c.10502G= (p.Arg3501=)
c.3588G=
c.7783G=
c.4949G= (p.Arg1650=)
c.7828G=
c.10883G= (p.Arg3628=)
c.1037G= (p.Arg346=)
c.2239G=
c.271G=
c.1980G=
c.4374G= (n.4374G=)
c.10757G= (p.Arg3586=)
n.4686G=
c.10886G= (p.Arg3629=)
2g.73572760G>TCA347286016ALMS1c.10502G>T (p.Arg3501Leu)
c.3588G>T
c.7783G>T
c.4949G>T (p.Arg1650Leu)
c.7828G>T
c.10883G>T (p.Arg3628Leu)
c.1037G>T (p.Arg346Leu)
c.2239G>T
c.271G>T
c.1980G>T
c.4374G>T (n.4374G>T)
c.10757G>T (p.Arg3586Leu)
n.4686G>T
c.10886G>T (p.Arg3629Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.73572761A>CCA427024013ALMS1c.10503A>C (p.Arg3501=)
c.3589A>C
c.7784A>C
c.4950A>C (p.Arg1650=)
c.7829A>C
c.10884A>C (p.Arg3628=)
c.1038A>C (p.Arg346=)
c.2240A>C
c.272A>C
c.1981A>C
c.4375A>C (n.4375A>C)
c.10758A>C (p.Arg3586=)
n.4687A>C
c.10887A>C (p.Arg3629=)
2g.73572761A>GCA427024014ALMS1c.10503A>G (p.Arg3501=)
c.3589A>G
c.7784A>G
c.4950A>G (p.Arg1650=)
c.7829A>G
c.10884A>G (p.Arg3628=)
c.1038A>G (p.Arg346=)
c.2240A>G
c.272A>G
c.1981A>G
c.4375A>G (n.4375A>G)
c.10758A>G (p.Arg3586=)
n.4687A>G
c.10887A>G (p.Arg3629=)
2g.73572761A>TCA427024016ALMS1c.10503A>T (p.Arg3501=)
c.3589A>T
c.7784A>T
c.4950A>T (p.Arg1650=)
c.7829A>T
c.10884A>T (p.Arg3628=)
c.1038A>T (p.Arg346=)
c.2240A>T
c.272A>T
c.1981A>T
c.4375A>T (n.4375A>T)
c.10758A>T (p.Arg3586=)
n.4687A>T
c.10887A>T (p.Arg3629=)
2g.73572762C>ACA347286017ALMS1c.10504C>A (p.Leu3502Ile)
c.3590C>A
c.7785C>A
c.4951C>A (p.Leu1651Ile)
c.7830C>A
c.10885C>A (p.Leu3629Ile)
c.1039C>A (p.Leu347Ile)
c.2241C>A
c.273C>A
c.1982C>A
c.4376C>A (n.4376C>A)
c.10759C>A (p.Leu3587Ile)
n.4688C>A
c.10888C>A (p.Leu3630Ile)
2g.73572762C>GCA347286018ALMS1c.10504C>G (p.Leu3502Val)
c.3590C>G
c.7785C>G
c.4951C>G (p.Leu1651Val)
c.7830C>G
c.10885C>G (p.Leu3629Val)
c.1039C>G (p.Leu347Val)
c.2241C>G
c.273C>G
c.1982C>G
c.4376C>G (n.4376C>G)
c.10759C>G (p.Leu3587Val)
n.4688C>G
c.10888C>G (p.Leu3630Val)
2g.73572762C>TCA347286020ALMS1c.10504C>T (p.Leu3502Phe)
c.3590C>T
c.7785C>T
c.4951C>T (p.Leu1651Phe)
c.7830C>T
c.10885C>T (p.Leu3629Phe)
c.1039C>T (p.Leu347Phe)
c.2241C>T
c.273C>T
c.1982C>T
c.4376C>T (n.4376C>T)
c.10759C>T (p.Leu3587Phe)
n.4688C>T
c.10888C>T (p.Leu3630Phe)
 ClinVar gnomAD v4
2g.73572763T>ACA347286023ALMS1c.10505T>A (p.Leu3502His)
c.3591T>A
c.7786T>A
c.4952T>A (p.Leu1651His)
c.7831T>A
c.10886T>A (p.Leu3629His)
c.1040T>A (p.Leu347His)
c.2242T>A
c.274T>A
c.1983T>A
c.4377T>A (n.4377T>A)
c.10760T>A (p.Leu3587His)
n.4689T>A
c.10889T>A (p.Leu3630His)
2g.73572763T>CCA1715083ALMS1c.10505T>C (p.Leu3502Pro)
c.3591T>C
c.7786T>C
c.4952T>C (p.Leu1651Pro)
c.7831T>C
c.10886T>C (p.Leu3629Pro)
c.1040T>C (p.Leu347Pro)
c.2242T>C
c.274T>C
c.1983T>C
c.4377T>C (n.4377T>C)
c.10760T>C (p.Leu3587Pro)
n.4689T>C
c.10889T>C (p.Leu3630Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572763T>GCA347286025ALMS1c.10505T>G (p.Leu3502Arg)
c.3591T>G
c.7786T>G
c.4952T>G (p.Leu1651Arg)
c.7831T>G
c.10886T>G (p.Leu3629Arg)
c.1040T>G (p.Leu347Arg)
c.2242T>G
c.274T>G
c.1983T>G
c.4377T>G (n.4377T>G)
c.10760T>G (p.Leu3587Arg)
n.4689T>G
c.10889T>G (p.Leu3630Arg)
2g.73572763T=CA1261021893ALMS1c.10505T= (p.Leu3502=)
c.3591T=
c.7786T=
c.4952T= (p.Leu1651=)
c.7831T=
c.10886T= (p.Leu3629=)
c.1040T= (p.Leu347=)
c.2242T=
c.274T=
c.1983T=
c.4377T= (n.4377T=)
c.10760T= (p.Leu3587=)
n.4689T=
c.10889T= (p.Leu3630=)
2g.73572764T>ACA427024023ALMS1c.10506T>A (p.Leu3502=)
c.3592T>A
c.7787T>A
c.4953T>A (p.Leu1651=)
c.7832T>A
c.10887T>A (p.Leu3629=)
c.1041T>A (p.Leu347=)
c.2243T>A
c.275T>A
c.1984T>A
c.4378T>A (n.4378T>A)
c.10761T>A (p.Leu3587=)
n.4690T>A
c.10890T>A (p.Leu3630=)
2g.73572764T>CCA427024024ALMS1c.10506T>C (p.Leu3502=)
c.3592T>C
c.7787T>C
c.4953T>C (p.Leu1651=)
c.7832T>C
c.10887T>C (p.Leu3629=)
c.1041T>C (p.Leu347=)
c.2243T>C
c.275T>C
c.1984T>C
c.4378T>C (n.4378T>C)
c.10761T>C (p.Leu3587=)
n.4690T>C
c.10890T>C (p.Leu3630=)
2g.73572764T>GCA427024025ALMS1c.10506T>G (p.Leu3502=)
c.3592T>G
c.7787T>G
c.4953T>G (p.Leu1651=)
c.7832T>G
c.10887T>G (p.Leu3629=)
c.1041T>G (p.Leu347=)
c.2243T>G
c.275T>G
c.1984T>G
c.4378T>G (n.4378T>G)
c.10761T>G (p.Leu3587=)
n.4690T>G
c.10890T>G (p.Leu3630=)
2g.73572765G>ACA347286027ALMS1c.10507G>A (p.Asp3503Asn)
c.3593G>A
c.7788G>A
c.4954G>A (p.Asp1652Asn)
c.7833G>A
c.10888G>A (p.Asp3630Asn)
c.1042G>A (p.Asp348Asn)
c.2244G>A
c.276G>A
c.1985G>A
c.4379G>A (n.4379G>A)
c.10762G>A (p.Asp3588Asn)
n.4691G>A
c.10891G>A (p.Asp3631Asn)
2g.73572765G>CCA347286029ALMS1c.10507G>C (p.Asp3503His)
c.3593G>C
c.7788G>C
c.4954G>C (p.Asp1652His)
c.7833G>C
c.10888G>C (p.Asp3630His)
c.1042G>C (p.Asp348His)
c.2244G>C
c.276G>C
c.1985G>C
c.4379G>C (n.4379G>C)
c.10762G>C (p.Asp3588His)
n.4691G>C
c.10891G>C (p.Asp3631His)
2g.73572765G>TCA347286030ALMS1c.10507G>T (p.Asp3503Tyr)
c.3593G>T
c.7788G>T
c.4954G>T (p.Asp1652Tyr)
c.7833G>T
c.10888G>T (p.Asp3630Tyr)
c.1042G>T (p.Asp348Tyr)
c.2244G>T
c.276G>T
c.1985G>T
c.4379G>T (n.4379G>T)
c.10762G>T (p.Asp3588Tyr)
n.4691G>T
c.10891G>T (p.Asp3631Tyr)
2g.73572766A>CCA347286034ALMS1c.10508A>C (p.Asp3503Ala)
c.3594A>C
c.7789A>C
c.4955A>C (p.Asp1652Ala)
c.7834A>C
c.10889A>C (p.Asp3630Ala)
c.1043A>C (p.Asp348Ala)
c.2245A>C
c.277A>C
c.1986A>C
c.4380A>C (n.4380A>C)
c.10763A>C (p.Asp3588Ala)
n.4692A>C
c.10892A>C (p.Asp3631Ala)
2g.73572766A>GCA347286036ALMS1c.10508A>G (p.Asp3503Gly)
c.3594A>G
c.7789A>G
c.4955A>G (p.Asp1652Gly)
c.7834A>G
c.10889A>G (p.Asp3630Gly)
c.1043A>G (p.Asp348Gly)
c.2245A>G
c.277A>G
c.1986A>G
c.4380A>G (n.4380A>G)
c.10763A>G (p.Asp3588Gly)
n.4692A>G
c.10892A>G (p.Asp3631Gly)
2g.73572766A>TCA347286035ALMS1c.10508A>T (p.Asp3503Val)
c.3594A>T
c.7789A>T
c.4955A>T (p.Asp1652Val)
c.7834A>T
c.10889A>T (p.Asp3630Val)
c.1043A>T (p.Asp348Val)
c.2245A>T
c.277A>T
c.1986A>T
c.4380A>T (n.4380A>T)
c.10763A>T (p.Asp3588Val)
n.4692A>T
c.10892A>T (p.Asp3631Val)
2g.73572767T>ACA347286038ALMS1c.10509T>A (p.Asp3503Glu)
c.3595T>A
c.7790T>A
c.4956T>A (p.Asp1652Glu)
c.7835T>A
c.10890T>A (p.Asp3630Glu)
c.1044T>A (p.Asp348Glu)
c.2246T>A
c.278T>A
c.1987T>A
c.4381T>A (n.4381T>A)
c.10764T>A (p.Asp3588Glu)
n.4693T>A
c.10893T>A (p.Asp3631Glu)
2g.73572767T>CCA427024028ALMS1c.10509T>C (p.Asp3503=)
c.3595T>C
c.7790T>C
c.4956T>C (p.Asp1652=)
c.7835T>C
c.10890T>C (p.Asp3630=)
c.1044T>C (p.Asp348=)
c.2246T>C
c.278T>C
c.1987T>C
c.4381T>C (n.4381T>C)
c.10764T>C (p.Asp3588=)
n.4693T>C
c.10893T>C (p.Asp3631=)
2g.73572767T>GCA347286040ALMS1c.10509T>G (p.Asp3503Glu)
c.3595T>G
c.7790T>G
c.4956T>G (p.Asp1652Glu)
c.7835T>G
c.10890T>G (p.Asp3630Glu)
c.1044T>G (p.Asp348Glu)
c.2246T>G
c.278T>G
c.1987T>G
c.4381T>G (n.4381T>G)
c.10764T>G (p.Asp3588Glu)
n.4693T>G
c.10893T>G (p.Asp3631Glu)
 gnomAD v4
2g.73572768C>ACA347286041ALMS1c.10510C>A (p.Arg3504Ser)
c.3596C>A
c.7791C>A
c.4957C>A (p.Arg1653Ser)
c.7836C>A
c.10891C>A (p.Arg3631Ser)
c.1045C>A (p.Arg349Ser)
c.2247C>A
c.279C>A
c.1988C>A
c.4382C>A (n.4382C>A)
c.10765C>A (p.Arg3589Ser)
n.4694C>A
c.10894C>A (p.Arg3632Ser)
 gnomAD v4
2g.73572768C=CA1261021896ALMS1c.10510C= (p.Arg3504=)
c.3596C=
c.7791C=
c.4957C= (p.Arg1653=)
c.7836C=
c.10891C= (p.Arg3631=)
c.1045C= (p.Arg349=)
c.2247C=
c.279C=
c.1988C=
c.4382C= (n.4382C=)
c.10765C= (p.Arg3589=)
n.4694C=
c.10894C= (p.Arg3632=)
2g.73572768C>GCA347286043ALMS1c.10510C>G (p.Arg3504Gly)
c.3596C>G
c.7791C>G
c.4957C>G (p.Arg1653Gly)
c.7836C>G
c.10891C>G (p.Arg3631Gly)
c.1045C>G (p.Arg349Gly)
c.2247C>G
c.279C>G
c.1988C>G
c.4382C>G (n.4382C>G)
c.10765C>G (p.Arg3589Gly)
n.4694C>G
c.10894C>G (p.Arg3632Gly)
2g.73572768C>TCA1715084ALMS1c.10510C>T (p.Arg3504Cys)
c.3596C>T
c.7791C>T
c.4957C>T (p.Arg1653Cys)
c.7836C>T
c.10891C>T (p.Arg3631Cys)
c.1045C>T (p.Arg349Cys)
c.2247C>T
c.279C>T
c.1988C>T
c.4382C>T (n.4382C>T)
c.10765C>T (p.Arg3589Cys)
n.4694C>T
c.10894C>T (p.Arg3632Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572769G>ACA1715085ALMS1c.10511G>A (p.Arg3504His)
c.3597G>A
c.7792G>A
c.4958G>A (p.Arg1653His)
c.7837G>A
c.10892G>A (p.Arg3631His)
c.1046G>A (p.Arg349His)
c.2248G>A
c.280G>A
c.1989G>A
c.4383G>A (n.4383G>A)
c.10766G>A (p.Arg3589His)
n.4695G>A
c.10895G>A (p.Arg3632His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73572769G>CCA347286047ALMS1c.10511G>C (p.Arg3504Pro)
c.3597G>C
c.7792G>C
c.4958G>C (p.Arg1653Pro)
c.7837G>C
c.10892G>C (p.Arg3631Pro)
c.1046G>C (p.Arg349Pro)
c.2248G>C
c.280G>C
c.1989G>C
c.4383G>C (n.4383G>C)
c.10766G>C (p.Arg3589Pro)
n.4695G>C
c.10895G>C (p.Arg3632Pro)
2g.73572769G=CA1261021901ALMS1c.10511G= (p.Arg3504=)
c.3597G=
c.7792G=
c.4958G= (p.Arg1653=)
c.7837G=
c.10892G= (p.Arg3631=)
c.1046G= (p.Arg349=)
c.2248G=
c.280G=
c.1989G=
c.4383G= (n.4383G=)
c.10766G= (p.Arg3589=)
n.4695G=
c.10895G= (p.Arg3632=)
2g.73572769G>TCA1715086ALMS1c.10511G>T (p.Arg3504Leu)
c.3597G>T
c.7792G>T
c.4958G>T (p.Arg1653Leu)
c.7837G>T
c.10892G>T (p.Arg3631Leu)
c.1046G>T (p.Arg349Leu)
c.2248G>T
c.280G>T
c.1989G>T
c.4383G>T (n.4383G>T)
c.10766G>T (p.Arg3589Leu)
n.4695G>T
c.10895G>T (p.Arg3632Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73572770T>ACA427024034ALMS1c.10512T>A (p.Arg3504=)
c.3598T>A
c.7793T>A
c.4959T>A (p.Arg1653=)
c.7838T>A
c.10893T>A (p.Arg3631=)
c.1047T>A (p.Arg349=)
c.2249T>A
c.281T>A
c.1990T>A
c.4384T>A (n.4384T>A)
c.10767T>A (p.Arg3589=)
n.4696T>A
c.10896T>A (p.Arg3632=)
2g.73572770T>CCA427024035ALMS1c.10512T>C (p.Arg3504=)
c.3598T>C
c.7793T>C
c.4959T>C (p.Arg1653=)
c.7838T>C
c.10893T>C (p.Arg3631=)
c.1047T>C (p.Arg349=)
c.2249T>C
c.281T>C
c.1990T>C
c.4384T>C (n.4384T>C)
c.10767T>C (p.Arg3589=)
n.4696T>C
c.10896T>C (p.Arg3632=)
2g.73572770T>GCA427024036ALMS1c.10512T>G (p.Arg3504=)
c.3598T>G
c.7793T>G
c.4959T>G (p.Arg1653=)
c.7838T>G
c.10893T>G (p.Arg3631=)
c.1047T>G (p.Arg349=)
c.2249T>G
c.281T>G
c.1990T>G
c.4384T>G (n.4384T>G)
c.10767T>G (p.Arg3589=)
n.4696T>G
c.10896T>G (p.Arg3632=)
2g.73572772dupCA2586964955ALMS1c.10514dup (p.Leu3505PhefsTer3)
c.3600dup
c.7795dup
c.4961dup (p.Leu1654PhefsTer3)
c.7840dup
c.10895dup (p.Leu3632PhefsTer3)
c.1049dup (p.Leu350PhefsTer3)
c.2251dup
c.283dup
c.1992dup
c.4386dup (n.4386dup)
c.10769dup (p.Leu3590PhefsTer3)
n.4698dup
c.10898dup (p.Leu3633PhefsTer3)
2g.73572771T>ACA347286050ALMS1c.10513T>A (p.Leu3505Met)
c.3599T>A
c.7794T>A
c.4960T>A (p.Leu1654Met)
c.7839T>A
c.10894T>A (p.Leu3632Met)
c.1048T>A (p.Leu350Met)
c.2250T>A
c.282T>A
c.1991T>A
c.4385T>A (n.4385T>A)
c.10768T>A (p.Leu3590Met)
n.4697T>A
c.10897T>A (p.Leu3633Met)
2g.73572771T>CCA427024037ALMS1c.10513T>C (p.Leu3505=)
c.3599T>C
c.7794T>C
c.4960T>C (p.Leu1654=)
c.7839T>C
c.10894T>C (p.Leu3632=)
c.1048T>C (p.Leu350=)
c.2250T>C
c.282T>C
c.1991T>C
c.4385T>C (n.4385T>C)
c.10768T>C (p.Leu3590=)
n.4697T>C
c.10897T>C (p.Leu3633=)
2g.73572771T>GCA347286052ALMS1c.10513T>G (p.Leu3505Val)
c.3599T>G
c.7794T>G
c.4960T>G (p.Leu1654Val)
c.7839T>G
c.10894T>G (p.Leu3632Val)
c.1048T>G (p.Leu350Val)
c.2250T>G
c.282T>G
c.1991T>G
c.4385T>G (n.4385T>G)
c.10768T>G (p.Leu3590Val)
n.4697T>G
c.10897T>G (p.Leu3633Val)
2g.73572772T>ACA347286055ALMS1c.10514T>A (p.Leu3505Ter)
c.3600T>A
c.7795T>A
c.4961T>A (p.Leu1654Ter)
c.7840T>A
c.10895T>A (p.Leu3632Ter)
c.1049T>A (p.Leu350Ter)
c.2251T>A
c.283T>A
c.1992T>A
c.4386T>A (n.4386T>A)
c.10769T>A (p.Leu3590Ter)
n.4698T>A
c.10898T>A (p.Leu3633Ter)
2g.73572772T>CCA347286057ALMS1c.10514T>C (p.Leu3505Ser)
c.3600T>C
c.7795T>C
c.4961T>C (p.Leu1654Ser)
c.7840T>C
c.10895T>C (p.Leu3632Ser)
c.1049T>C (p.Leu350Ser)
c.2251T>C
c.283T>C
c.1992T>C
c.4386T>C (n.4386T>C)
c.10769T>C (p.Leu3590Ser)
n.4698T>C
c.10898T>C (p.Leu3633Ser)
2g.73572772T>GCA347286054ALMS1c.10514T>G (p.Leu3505Trp)
c.3600T>G
c.7795T>G
c.4961T>G (p.Leu1654Trp)
c.7840T>G
c.10895T>G (p.Leu3632Trp)
c.1049T>G (p.Leu350Trp)
c.2251T>G
c.283T>G
c.1992T>G
c.4386T>G (n.4386T>G)
c.10769T>G (p.Leu3590Trp)
n.4698T>G
c.10898T>G (p.Leu3633Trp)
 dbSNP gnomAD v3 gnomAD v4
2g.73572772T=CA1261021905ALMS1c.10514T= (p.Leu3505=)
c.3600T=
c.7795T=
c.4961T= (p.Leu1654=)
c.7840T=
c.10895T= (p.Leu3632=)
c.1049T= (p.Leu350=)
c.2251T=
c.283T=
c.1992T=
c.4386T= (n.4386T=)
c.10769T= (p.Leu3590=)
n.4698T=
c.10898T= (p.Leu3633=)
2g.73572773G>ACA427024042ALMS1c.10515G>A (p.Leu3505=)
c.3601G>A
c.7796G>A
c.4962G>A (p.Leu1654=)
c.7841G>A
c.10896G>A (p.Leu3632=)
c.1050G>A (p.Leu350=)
c.2252G>A
c.284G>A
c.1993G>A
c.4387G>A (n.4387G>A)
c.10770G>A (p.Leu3590=)
n.4699G>A
c.10899G>A (p.Leu3633=)
2g.73572773G>CCA347286058ALMS1c.10515G>C (p.Leu3505Phe)
c.3601G>C
c.7796G>C
c.4962G>C (p.Leu1654Phe)
c.7841G>C
c.10896G>C (p.Leu3632Phe)
c.1050G>C (p.Leu350Phe)
c.2252G>C
c.284G>C
c.1993G>C
c.4387G>C (n.4387G>C)
c.10770G>C (p.Leu3590Phe)
n.4699G>C
c.10899G>C (p.Leu3633Phe)
2g.73572773G>TCA347286059ALMS1c.10515G>T (p.Leu3505Phe)
c.3601G>T
c.7796G>T
c.4962G>T (p.Leu1654Phe)
c.7841G>T
c.10896G>T (p.Leu3632Phe)
c.1050G>T (p.Leu350Phe)
c.2252G>T
c.284G>T
c.1993G>T
c.4387G>T (n.4387G>T)
c.10770G>T (p.Leu3590Phe)
n.4699G>T
c.10899G>T (p.Leu3633Phe)

Number of alleles fetched