Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73601262T>ACA426783528ALMS1c.11559T>A (p.Thr3853=)
c.11167-923T>A (n.11167-923T>A)
c.4645T>A
c.8840T>A
c.6006T>A (p.Thr2002=)
c.9024T>A
c.11940T>A (p.Thr3980=)
c.2094T>A (p.Thr698=)
c.3296T>A
c.1260+381T>A
c.3111T>A
n.115T>A
c.11814T>A (p.Thr3938=)
n.5743T>A
c.11943T>A (p.Thr3981=)
 ClinVar dbSNP gnomAD v4
2g.73601262T>CCA426783527ALMS1c.11559T>C (p.Thr3853=)
c.11167-923T>C (n.11167-923T>C)
c.4645T>C
c.8840T>C
c.6006T>C (p.Thr2002=)
c.9024T>C
c.11940T>C (p.Thr3980=)
c.2094T>C (p.Thr698=)
c.3296T>C
c.1260+381T>C
c.3111T>C
n.115T>C
c.11814T>C (p.Thr3938=)
n.5743T>C
c.11943T>C (p.Thr3981=)
 ClinVar dbSNP gnomAD v4
2g.73601262T>GCA426783526ALMS1c.11559T>G (p.Thr3853=)
c.11167-923T>G (n.11167-923T>G)
c.4645T>G
c.8840T>G
c.6006T>G (p.Thr2002=)
c.9024T>G
c.11940T>G (p.Thr3980=)
c.2094T>G (p.Thr698=)
c.3296T>G
c.1260+381T>G
c.3111T>G
n.115T>G
c.11814T>G (p.Thr3938=)
n.5743T>G
c.11943T>G (p.Thr3981=)
 ClinVar dbSNP
2g.73601262T=CA1261033753ALMS1c.11559T= (p.Thr3853=)
c.11167-923T= (n.11167-923T=)
c.4645T=
c.8840T=
c.6006T= (p.Thr2002=)
c.9024T=
c.11940T= (p.Thr3980=)
c.2094T= (p.Thr698=)
c.3296T=
c.1260+381T=
c.3111T=
n.115T=
c.11814T= (p.Thr3938=)
n.5743T=
c.11943T= (p.Thr3981=)
2g.73601263T>ACA347265821ALMS1c.11560T>A (p.Cys3854Ser)
c.11167-922T>A (n.11167-922T>A)
c.4646T>A
c.8841T>A
c.6007T>A (p.Cys2003Ser)
c.9025T>A
c.11941T>A (p.Cys3981Ser)
c.2095T>A (p.Cys699Ser)
c.3297T>A
c.1260+382T>A
c.3112T>A
n.116T>A
c.11815T>A (p.Cys3939Ser)
n.5744T>A
c.11944T>A (p.Cys3982Ser)
2g.73601263T>CCA347265817ALMS1c.11560T>C (p.Cys3854Arg)
c.11167-922T>C (n.11167-922T>C)
c.4646T>C
c.8841T>C
c.6007T>C (p.Cys2003Arg)
c.9025T>C
c.11941T>C (p.Cys3981Arg)
c.2095T>C (p.Cys699Arg)
c.3297T>C
c.1260+382T>C
c.3112T>C
n.116T>C
c.11815T>C (p.Cys3939Arg)
n.5744T>C
c.11944T>C (p.Cys3982Arg)
2g.73601263T>GCA347265814ALMS1c.11560T>G (p.Cys3854Gly)
c.11167-922T>G (n.11167-922T>G)
c.4646T>G
c.8841T>G
c.6007T>G (p.Cys2003Gly)
c.9025T>G
c.11941T>G (p.Cys3981Gly)
c.2095T>G (p.Cys699Gly)
c.3297T>G
c.1260+382T>G
c.3112T>G
n.116T>G
c.11815T>G (p.Cys3939Gly)
n.5744T>G
c.11944T>G (p.Cys3982Gly)
2g.73601264G>ACA347265826ALMS1c.11561G>A (p.Cys3854Tyr)
c.11167-921G>A (n.11167-921G>A)
c.4647G>A
c.8842G>A
c.6008G>A (p.Cys2003Tyr)
c.9026G>A
c.11942G>A (p.Cys3981Tyr)
c.2096G>A (p.Cys699Tyr)
c.3298G>A
c.1260+383G>A
c.3113G>A
n.117G>A
c.11816G>A (p.Cys3939Tyr)
n.5745G>A
c.11945G>A (p.Cys3982Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.73601264G>CCA347265823ALMS1c.11561G>C (p.Cys3854Ser)
c.11167-921G>C (n.11167-921G>C)
c.4647G>C
c.8842G>C
c.6008G>C (p.Cys2003Ser)
c.9026G>C
c.11942G>C (p.Cys3981Ser)
c.2096G>C (p.Cys699Ser)
c.3298G>C
c.1260+383G>C
c.3113G>C
n.117G>C
c.11816G>C (p.Cys3939Ser)
n.5745G>C
c.11945G>C (p.Cys3982Ser)
2g.73601264G=CA1261033755ALMS1c.11561G= (p.Cys3854=)
c.11167-921G= (n.11167-921G=)
c.4647G=
c.8842G=
c.6008G= (p.Cys2003=)
c.9026G=
c.11942G= (p.Cys3981=)
c.2096G= (p.Cys699=)
c.3298G=
c.1260+383G=
c.3113G=
n.117G=
c.11816G= (p.Cys3939=)
n.5745G=
c.11945G= (p.Cys3982=)
2g.73601264G>TCA347265829ALMS1c.11561G>T (p.Cys3854Phe)
c.11167-921G>T (n.11167-921G>T)
c.4647G>T
c.8842G>T
c.6008G>T (p.Cys2003Phe)
c.9026G>T
c.11942G>T (p.Cys3981Phe)
c.2096G>T (p.Cys699Phe)
c.3298G>T
c.1260+383G>T
c.3113G>T
n.117G>T
c.11816G>T (p.Cys3939Phe)
n.5745G>T
c.11945G>T (p.Cys3982Phe)
2g.73601265T>ACA347265832ALMS1c.11562T>A (p.Cys3854Ter)
c.11167-920T>A (n.11167-920T>A)
c.4648T>A
c.8843T>A
c.6009T>A (p.Cys2003Ter)
c.9027T>A
c.11943T>A (p.Cys3981Ter)
c.2097T>A (p.Cys699Ter)
c.3299T>A
c.1260+384T>A
c.3114T>A
n.118T>A
c.11817T>A (p.Cys3939Ter)
n.5746T>A
c.11946T>A (p.Cys3982Ter)
 ClinVar
2g.73601265T>CCA426783529ALMS1c.11562T>C (p.Cys3854=)
c.11167-920T>C (n.11167-920T>C)
c.4648T>C
c.8843T>C
c.6009T>C (p.Cys2003=)
c.9027T>C
c.11943T>C (p.Cys3981=)
c.2097T>C (p.Cys699=)
c.3299T>C
c.1260+384T>C
c.3114T>C
n.118T>C
c.11817T>C (p.Cys3939=)
n.5746T>C
c.11946T>C (p.Cys3982=)
2g.73601265T>GCA347265836ALMS1c.11562T>G (p.Cys3854Trp)
c.11167-920T>G (n.11167-920T>G)
c.4648T>G
c.8843T>G
c.6009T>G (p.Cys2003Trp)
c.9027T>G
c.11943T>G (p.Cys3981Trp)
c.2097T>G (p.Cys699Trp)
c.3299T>G
c.1260+384T>G
c.3114T>G
n.118T>G
c.11817T>G (p.Cys3939Trp)
n.5746T>G
c.11946T>G (p.Cys3982Trp)
2g.73601266G>ACA347265840ALMS1c.11563G>A (p.Gly3855Ser)
c.11167-919G>A (n.11167-919G>A)
c.4649G>A
c.8844G>A
c.6010G>A (p.Gly2004Ser)
c.9028G>A
c.11944G>A (p.Gly3982Ser)
c.2098G>A (p.Gly700Ser)
c.3300G>A
c.1260+385G>A
c.3115G>A
n.119G>A
c.11818G>A (p.Gly3940Ser)
n.5747G>A
c.11947G>A (p.Gly3983Ser)
2g.73601266G>CCA347265843ALMS1c.11563G>C (p.Gly3855Arg)
c.11167-919G>C (n.11167-919G>C)
c.4649G>C
c.8844G>C
c.6010G>C (p.Gly2004Arg)
c.9028G>C
c.11944G>C (p.Gly3982Arg)
c.2098G>C (p.Gly700Arg)
c.3300G>C
c.1260+385G>C
c.3115G>C
n.119G>C
c.11818G>C (p.Gly3940Arg)
n.5747G>C
c.11947G>C (p.Gly3983Arg)
 gnomAD v4
2g.73601266G>TCA347265845ALMS1c.11563G>T (p.Gly3855Cys)
c.11167-919G>T (n.11167-919G>T)
c.4649G>T
c.8844G>T
c.6010G>T (p.Gly2004Cys)
c.9028G>T
c.11944G>T (p.Gly3982Cys)
c.2098G>T (p.Gly700Cys)
c.3300G>T
c.1260+385G>T
c.3115G>T
n.119G>T
c.11818G>T (p.Gly3940Cys)
n.5747G>T
c.11947G>T (p.Gly3983Cys)
2g.73601267G>ACA347265847ALMS1c.11564G>A (p.Gly3855Asp)
c.11167-918G>A (n.11167-918G>A)
c.4650G>A
c.8845G>A
c.6011G>A (p.Gly2004Asp)
c.9029G>A
c.11945G>A (p.Gly3982Asp)
c.2099G>A (p.Gly700Asp)
c.3301G>A
c.1260+386G>A
c.3116G>A
n.120G>A
c.11819G>A (p.Gly3940Asp)
n.5748G>A
c.11948G>A (p.Gly3983Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.73601267G>CCA347265850ALMS1c.11564G>C (p.Gly3855Ala)
c.11167-918G>C (n.11167-918G>C)
c.4650G>C
c.8845G>C
c.6011G>C (p.Gly2004Ala)
c.9029G>C
c.11945G>C (p.Gly3982Ala)
c.2099G>C (p.Gly700Ala)
c.3301G>C
c.1260+386G>C
c.3116G>C
n.120G>C
c.11819G>C (p.Gly3940Ala)
n.5748G>C
c.11948G>C (p.Gly3983Ala)
2g.73601267G=CA1261033760ALMS1c.11564G= (p.Gly3855=)
c.11167-918G= (n.11167-918G=)
c.4650G=
c.8845G=
c.6011G= (p.Gly2004=)
c.9029G=
c.11945G= (p.Gly3982=)
c.2099G= (p.Gly700=)
c.3301G=
c.1260+386G=
c.3116G=
n.120G=
c.11819G= (p.Gly3940=)
n.5748G=
c.11948G= (p.Gly3983=)
2g.73601267G>TCA347265853ALMS1c.11564G>T (p.Gly3855Val)
c.11167-918G>T (n.11167-918G>T)
c.4650G>T
c.8845G>T
c.6011G>T (p.Gly2004Val)
c.9029G>T
c.11945G>T (p.Gly3982Val)
c.2099G>T (p.Gly700Val)
c.3301G>T
c.1260+386G>T
c.3116G>T
n.120G>T
c.11819G>T (p.Gly3940Val)
n.5748G>T
c.11948G>T (p.Gly3983Val)
2g.73601268C>ACA426783530ALMS1c.11565C>A (p.Gly3855=)
c.11167-917C>A (n.11167-917C>A)
c.4651C>A
c.8846C>A
c.6012C>A (p.Gly2004=)
c.9030C>A
c.11946C>A (p.Gly3982=)
c.2100C>A (p.Gly700=)
c.3302C>A
c.1260+387C>A
c.3117C>A
n.121C>A
c.11820C>A (p.Gly3940=)
n.5749C>A
c.11949C>A (p.Gly3983=)
2g.73601268C>GCA426783531ALMS1c.11565C>G (p.Gly3855=)
c.11167-917C>G (n.11167-917C>G)
c.4651C>G
c.8846C>G
c.6012C>G (p.Gly2004=)
c.9030C>G
c.11946C>G (p.Gly3982=)
c.2100C>G (p.Gly700=)
c.3302C>G
c.1260+387C>G
c.3117C>G
n.121C>G
c.11820C>G (p.Gly3940=)
n.5749C>G
c.11949C>G (p.Gly3983=)
2g.73601268C>TCA426783532ALMS1c.11565C>T (p.Gly3855=)
c.11167-917C>T (n.11167-917C>T)
c.4651C>T
c.8846C>T
c.6012C>T (p.Gly2004=)
c.9030C>T
c.11946C>T (p.Gly3982=)
c.2100C>T (p.Gly700=)
c.3302C>T
c.1260+387C>T
c.3117C>T
n.121C>T
c.11820C>T (p.Gly3940=)
n.5749C>T
c.11949C>T (p.Gly3983=)
2g.73601269C>ACA347265857ALMS1c.11566C>A (p.Pro3856Thr)
c.11167-916C>A (n.11167-916C>A)
c.4652C>A
c.8847C>A
c.6013C>A (p.Pro2005Thr)
c.9031C>A
c.11947C>A (p.Pro3983Thr)
c.2101C>A (p.Pro701Thr)
c.3303C>A
c.1260+388C>A
c.3118C>A
n.122C>A
c.11821C>A (p.Pro3941Thr)
n.5750C>A
c.11950C>A (p.Pro3984Thr)
2g.73601269C>GCA347265860ALMS1c.11566C>G (p.Pro3856Ala)
c.11167-916C>G (n.11167-916C>G)
c.4652C>G
c.8847C>G
c.6013C>G (p.Pro2005Ala)
c.9031C>G
c.11947C>G (p.Pro3983Ala)
c.2101C>G (p.Pro701Ala)
c.3303C>G
c.1260+388C>G
c.3118C>G
n.122C>G
c.11821C>G (p.Pro3941Ala)
n.5750C>G
c.11950C>G (p.Pro3984Ala)
2g.73601269C>TCA347265862ALMS1c.11566C>T (p.Pro3856Ser)
c.11167-916C>T (n.11167-916C>T)
c.4652C>T
c.8847C>T
c.6013C>T (p.Pro2005Ser)
c.9031C>T
c.11947C>T (p.Pro3983Ser)
c.2101C>T (p.Pro701Ser)
c.3303C>T
c.1260+388C>T
c.3118C>T
n.122C>T
c.11821C>T (p.Pro3941Ser)
n.5750C>T
c.11950C>T (p.Pro3984Ser)
 gnomAD v4
2g.73601270C>ACA347265866ALMS1c.11567C>A (p.Pro3856His)
c.11167-915C>A (n.11167-915C>A)
c.4653C>A
c.8848C>A
c.6014C>A (p.Pro2005His)
c.9032C>A
c.11948C>A (p.Pro3983His)
c.2102C>A (p.Pro701His)
c.3304C>A
c.1260+389C>A
c.3119C>A
n.123C>A
c.11822C>A (p.Pro3941His)
n.5751C>A
c.11951C>A (p.Pro3984His)
2g.73601270C=CA1261033764ALMS1c.11567C= (p.Pro3856=)
c.11167-915C= (n.11167-915C=)
c.4653C=
c.8848C=
c.6014C= (p.Pro2005=)
c.9032C=
c.11948C= (p.Pro3983=)
c.2102C= (p.Pro701=)
c.3304C=
c.1260+389C=
c.3119C=
n.123C=
c.11822C= (p.Pro3941=)
n.5751C=
c.11951C= (p.Pro3984=)
2g.73601270C>GCA50337290ALMS1c.11567C>G (p.Pro3856Arg)
c.11167-915C>G (n.11167-915C>G)
c.4653C>G
c.8848C>G
c.6014C>G (p.Pro2005Arg)
c.9032C>G
c.11948C>G (p.Pro3983Arg)
c.2102C>G (p.Pro701Arg)
c.3304C>G
c.1260+389C>G
c.3119C>G
n.123C>G
c.11822C>G (p.Pro3941Arg)
n.5751C>G
c.11951C>G (p.Pro3984Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73601270C>TCA347265870ALMS1c.11567C>T (p.Pro3856Leu)
c.11167-915C>T (n.11167-915C>T)
c.4653C>T
c.8848C>T
c.6014C>T (p.Pro2005Leu)
c.9032C>T
c.11948C>T (p.Pro3983Leu)
c.2102C>T (p.Pro701Leu)
c.3304C>T
c.1260+389C>T
c.3119C>T
n.123C>T
c.11822C>T (p.Pro3941Leu)
n.5751C>T
c.11951C>T (p.Pro3984Leu)
 ClinVar dbSNP gnomAD v4
2g.73601271T>ACA426783533ALMS1c.11568T>A (p.Pro3856=)
c.11167-914T>A (n.11167-914T>A)
c.4654T>A
c.8849T>A
c.6015T>A (p.Pro2005=)
c.9033T>A
c.11949T>A (p.Pro3983=)
c.2103T>A (p.Pro701=)
c.3305T>A
c.1260+390T>A
c.3120T>A
n.124T>A
c.11823T>A (p.Pro3941=)
n.5752T>A
c.11952T>A (p.Pro3984=)
2g.73601271T>CCA426783534ALMS1c.11568T>C (p.Pro3856=)
c.11167-914T>C (n.11167-914T>C)
c.4654T>C
c.8849T>C
c.6015T>C (p.Pro2005=)
c.9033T>C
c.11949T>C (p.Pro3983=)
c.2103T>C (p.Pro701=)
c.3305T>C
c.1260+390T>C
c.3120T>C
n.124T>C
c.11823T>C (p.Pro3941=)
n.5752T>C
c.11952T>C (p.Pro3984=)
 dbSNP
2g.73601271T>GCA426783535ALMS1c.11568T>G (p.Pro3856=)
c.11167-914T>G (n.11167-914T>G)
c.4654T>G
c.8849T>G
c.6015T>G (p.Pro2005=)
c.9033T>G
c.11949T>G (p.Pro3983=)
c.2103T>G (p.Pro701=)
c.3305T>G
c.1260+390T>G
c.3120T>G
n.124T>G
c.11823T>G (p.Pro3941=)
n.5752T>G
c.11952T>G (p.Pro3984=)
2g.73601271T=CA1261033766ALMS1c.11568T= (p.Pro3856=)
c.11167-914T= (n.11167-914T=)
c.4654T=
c.8849T=
c.6015T= (p.Pro2005=)
c.9033T=
c.11949T= (p.Pro3983=)
c.2103T= (p.Pro701=)
c.3305T=
c.1260+390T=
c.3120T=
n.124T=
c.11823T= (p.Pro3941=)
n.5752T=
c.11952T= (p.Pro3984=)
2g.73601272G>ACA347265879ALMS1c.11569G>A (p.Gly3857Ser)
c.11167-913G>A (n.11167-913G>A)
c.4655G>A
c.8850G>A
c.6016G>A (p.Gly2006Ser)
c.9034G>A
c.11950G>A (p.Gly3984Ser)
c.2104G>A (p.Gly702Ser)
c.3306G>A
c.1260+391G>A
c.3121G>A
n.125G>A
c.11824G>A (p.Gly3942Ser)
n.5753G>A
c.11953G>A (p.Gly3985Ser)
2g.73601272G>CCA347265874ALMS1c.11569G>C (p.Gly3857Arg)
c.11167-913G>C (n.11167-913G>C)
c.4655G>C
c.8850G>C
c.6016G>C (p.Gly2006Arg)
c.9034G>C
c.11950G>C (p.Gly3984Arg)
c.2104G>C (p.Gly702Arg)
c.3306G>C
c.1260+391G>C
c.3121G>C
n.125G>C
c.11824G>C (p.Gly3942Arg)
n.5753G>C
c.11953G>C (p.Gly3985Arg)
2g.73601272G>TCA347265876ALMS1c.11569G>T (p.Gly3857Cys)
c.11167-913G>T (n.11167-913G>T)
c.4655G>T
c.8850G>T
c.6016G>T (p.Gly2006Cys)
c.9034G>T
c.11950G>T (p.Gly3984Cys)
c.2104G>T (p.Gly702Cys)
c.3306G>T
c.1260+391G>T
c.3121G>T
n.125G>T
c.11824G>T (p.Gly3942Cys)
n.5753G>T
c.11953G>T (p.Gly3985Cys)
2g.73601273G>ACA347265883ALMS1c.11570G>A (p.Gly3857Asp)
c.11167-912G>A (n.11167-912G>A)
c.4656G>A
c.8851G>A
c.6017G>A (p.Gly2006Asp)
c.9035G>A
c.11951G>A (p.Gly3984Asp)
c.2105G>A (p.Gly702Asp)
c.3307G>A
c.1260+392G>A
c.3122G>A
n.126G>A
c.11825G>A (p.Gly3942Asp)
n.5754G>A
c.11954G>A (p.Gly3985Asp)
 gnomAD v3 gnomAD v4
2g.73601273G>CCA347265886ALMS1c.11570G>C (p.Gly3857Ala)
c.11167-912G>C (n.11167-912G>C)
c.4656G>C
c.8851G>C
c.6017G>C (p.Gly2006Ala)
c.9035G>C
c.11951G>C (p.Gly3984Ala)
c.2105G>C (p.Gly702Ala)
c.3307G>C
c.1260+392G>C
c.3122G>C
n.126G>C
c.11825G>C (p.Gly3942Ala)
n.5754G>C
c.11954G>C (p.Gly3985Ala)
2g.73601273G=CA1261033768ALMS1c.11570G= (p.Gly3857=)
c.11167-912G= (n.11167-912G=)
c.4656G=
c.8851G=
c.6017G= (p.Gly2006=)
c.9035G=
c.11951G= (p.Gly3984=)
c.2105G= (p.Gly702=)
c.3307G=
c.1260+392G=
c.3122G=
n.126G=
c.11825G= (p.Gly3942=)
n.5754G=
c.11954G= (p.Gly3985=)
2g.73601273G>TCA1715389ALMS1c.11570G>T (p.Gly3857Val)
c.11167-912G>T (n.11167-912G>T)
c.4656G>T
c.8851G>T
c.6017G>T (p.Gly2006Val)
c.9035G>T
c.11951G>T (p.Gly3984Val)
c.2105G>T (p.Gly702Val)
c.3307G>T
c.1260+392G>T
c.3122G>T
n.126G>T
c.11825G>T (p.Gly3942Val)
n.5754G>T
c.11954G>T (p.Gly3985Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601274C>ACA426783536ALMS1c.11571C>A (p.Gly3857=)
c.11167-911C>A (n.11167-911C>A)
c.4657C>A
c.8852C>A
c.6018C>A (p.Gly2006=)
c.9036C>A
c.11952C>A (p.Gly3984=)
c.2106C>A (p.Gly702=)
c.3308C>A
c.1260+393C>A
c.3123C>A
n.127C>A
c.11826C>A (p.Gly3942=)
n.5755C>A
c.11955C>A (p.Gly3985=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73601274C=CA1261033772ALMS1c.11571C= (p.Gly3857=)
c.11167-911C= (n.11167-911C=)
c.4657C=
c.8852C=
c.6018C= (p.Gly2006=)
c.9036C=
c.11952C= (p.Gly3984=)
c.2106C= (p.Gly702=)
c.3308C=
c.1260+393C=
c.3123C=
n.127C=
c.11826C= (p.Gly3942=)
n.5755C=
c.11955C= (p.Gly3985=)
2g.73601274C>GCA50337292ALMS1c.11571C>G (p.Gly3857=)
c.11167-911C>G (n.11167-911C>G)
c.4657C>G
c.8852C>G
c.6018C>G (p.Gly2006=)
c.9036C>G
c.11952C>G (p.Gly3984=)
c.2106C>G (p.Gly702=)
c.3308C>G
c.1260+393C>G
c.3123C>G
n.127C>G
c.11826C>G (p.Gly3942=)
n.5755C>G
c.11955C>G (p.Gly3985=)
 dbSNP gnomAD v4
2g.73601274C>TCA426783537ALMS1c.11571C>T (p.Gly3857=)
c.11167-911C>T (n.11167-911C>T)
c.4657C>T
c.8852C>T
c.6018C>T (p.Gly2006=)
c.9036C>T
c.11952C>T (p.Gly3984=)
c.2106C>T (p.Gly702=)
c.3308C>T
c.1260+393C>T
c.3123C>T
n.127C>T
c.11826C>T (p.Gly3942=)
n.5755C>T
c.11955C>T (p.Gly3985=)
2g.73601275A=CA1261033779ALMS1c.11572A= (p.Ile3858=)
c.11167-910A= (n.11167-910A=)
c.4658A=
c.8853A=
c.6019A= (p.Ile2007=)
c.9037A=
c.11953A= (p.Ile3985=)
c.2107A= (p.Ile703=)
c.3309A=
c.1260+394A=
c.3124A=
n.128A=
c.11827A= (p.Ile3943=)
n.5756A=
c.11956A= (p.Ile3986=)
2g.73601275A>CCA347265888ALMS1c.11572A>C (p.Ile3858Leu)
c.11167-910A>C (n.11167-910A>C)
c.4658A>C
c.8853A>C
c.6019A>C (p.Ile2007Leu)
c.9037A>C
c.11953A>C (p.Ile3985Leu)
c.2107A>C (p.Ile703Leu)
c.3309A>C
c.1260+394A>C
c.3124A>C
n.128A>C
c.11827A>C (p.Ile3943Leu)
n.5756A>C
c.11956A>C (p.Ile3986Leu)
2g.73601275A>GCA1715390ALMS1c.11572A>G (p.Ile3858Val)
c.11167-910A>G (n.11167-910A>G)
c.4658A>G
c.8853A>G
c.6019A>G (p.Ile2007Val)
c.9037A>G
c.11953A>G (p.Ile3985Val)
c.2107A>G (p.Ile703Val)
c.3309A>G
c.1260+394A>G
c.3124A>G
n.128A>G
c.11827A>G (p.Ile3943Val)
n.5756A>G
c.11956A>G (p.Ile3986Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601275A>TCA347265893ALMS1c.11572A>T (p.Ile3858Phe)
c.11167-910A>T (n.11167-910A>T)
c.4658A>T
c.8853A>T
c.6019A>T (p.Ile2007Phe)
c.9037A>T
c.11953A>T (p.Ile3985Phe)
c.2107A>T (p.Ile703Phe)
c.3309A>T
c.1260+394A>T
c.3124A>T
n.128A>T
c.11827A>T (p.Ile3943Phe)
n.5756A>T
c.11956A>T (p.Ile3986Phe)
2g.73601276T>ACA347265897ALMS1c.11573T>A (p.Ile3858Asn)
c.11167-909T>A (n.11167-909T>A)
c.4659T>A
c.8854T>A
c.6020T>A (p.Ile2007Asn)
c.9038T>A
c.11954T>A (p.Ile3985Asn)
c.2108T>A (p.Ile703Asn)
c.3310T>A
c.1260+395T>A
c.3125T>A
n.129T>A
c.11828T>A (p.Ile3943Asn)
n.5757T>A
c.11957T>A (p.Ile3986Asn)
2g.73601276T>CCA347265901ALMS1c.11573T>C (p.Ile3858Thr)
c.11167-909T>C (n.11167-909T>C)
c.4659T>C
c.8854T>C
c.6020T>C (p.Ile2007Thr)
c.9038T>C
c.11954T>C (p.Ile3985Thr)
c.2108T>C (p.Ile703Thr)
c.3310T>C
c.1260+395T>C
c.3125T>C
n.129T>C
c.11828T>C (p.Ile3943Thr)
n.5757T>C
c.11957T>C (p.Ile3986Thr)
2g.73601276T>GCA347265902ALMS1c.11573T>G (p.Ile3858Ser)
c.11167-909T>G (n.11167-909T>G)
c.4659T>G
c.8854T>G
c.6020T>G (p.Ile2007Ser)
c.9038T>G
c.11954T>G (p.Ile3985Ser)
c.2108T>G (p.Ile703Ser)
c.3310T>G
c.1260+395T>G
c.3125T>G
n.129T>G
c.11828T>G (p.Ile3943Ser)
n.5757T>G
c.11957T>G (p.Ile3986Ser)
2g.73601277C>ACA426783538ALMS1c.11574C>A (p.Ile3858=)
c.11167-908C>A (n.11167-908C>A)
c.4660C>A
c.8855C>A
c.6021C>A (p.Ile2007=)
c.9039C>A
c.11955C>A (p.Ile3985=)
c.2109C>A (p.Ile703=)
c.3311C>A
c.1260+396C>A
c.3126C>A
n.130C>A
c.11829C>A (p.Ile3943=)
n.5758C>A
c.11958C>A (p.Ile3986=)
2g.73601277C>GCA347265903ALMS1c.11574C>G (p.Ile3858Met)
c.11167-908C>G (n.11167-908C>G)
c.4660C>G
c.8855C>G
c.6021C>G (p.Ile2007Met)
c.9039C>G
c.11955C>G (p.Ile3985Met)
c.2109C>G (p.Ile703Met)
c.3311C>G
c.1260+396C>G
c.3126C>G
n.130C>G
c.11829C>G (p.Ile3943Met)
n.5758C>G
c.11958C>G (p.Ile3986Met)
2g.73601277C>TCA426783539ALMS1c.11574C>T (p.Ile3858=)
c.11167-908C>T (n.11167-908C>T)
c.4660C>T
c.8855C>T
c.6021C>T (p.Ile2007=)
c.9039C>T
c.11955C>T (p.Ile3985=)
c.2109C>T (p.Ile703=)
c.3311C>T
c.1260+396C>T
c.3126C>T
n.130C>T
c.11829C>T (p.Ile3943=)
n.5758C>T
c.11958C>T (p.Ile3986=)
 ClinVar dbSNP gnomAD v4
2g.73601278T>ACA1715391ALMS1c.11575T>A (p.Ser3859Thr)
c.11167-907T>A (n.11167-907T>A)
c.4661T>A
c.8856T>A
c.6022T>A (p.Ser2008Thr)
c.9040T>A
c.11956T>A (p.Ser3986Thr)
c.2110T>A (p.Ser704Thr)
c.3312T>A
c.1260+397T>A
c.3127T>A
n.131T>A
c.11830T>A (p.Ser3944Thr)
n.5759T>A
c.11959T>A (p.Ser3987Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601278T>CCA50337312ALMS1c.11575T>C (p.Ser3859Pro)
c.11167-907T>C (n.11167-907T>C)
c.4661T>C
c.8856T>C
c.6022T>C (p.Ser2008Pro)
c.9040T>C
c.11956T>C (p.Ser3986Pro)
c.2110T>C (p.Ser704Pro)
c.3312T>C
c.1260+397T>C
c.3127T>C
n.131T>C
c.11830T>C (p.Ser3944Pro)
n.5759T>C
c.11959T>C (p.Ser3987Pro)
 dbSNP
2g.73601278T>GCA347265905ALMS1c.11575T>G (p.Ser3859Ala)
c.11167-907T>G (n.11167-907T>G)
c.4661T>G
c.8856T>G
c.6022T>G (p.Ser2008Ala)
c.9040T>G
c.11956T>G (p.Ser3986Ala)
c.2110T>G (p.Ser704Ala)
c.3312T>G
c.1260+397T>G
c.3127T>G
n.131T>G
c.11830T>G (p.Ser3944Ala)
n.5759T>G
c.11959T>G (p.Ser3987Ala)
 gnomAD v4
2g.73601278T=CA1261033782ALMS1c.11575T= (p.Ser3859=)
c.11167-907T= (n.11167-907T=)
c.4661T=
c.8856T=
c.6022T= (p.Ser2008=)
c.9040T=
c.11956T= (p.Ser3986=)
c.2110T= (p.Ser704=)
c.3312T=
c.1260+397T=
c.3127T=
n.131T=
c.11830T= (p.Ser3944=)
n.5759T=
c.11959T= (p.Ser3987=)
2g.73601279C>ACA347265907ALMS1c.11576C>A (p.Ser3859Tyr)
c.11167-906C>A (n.11167-906C>A)
c.4662C>A
c.8857C>A
c.6023C>A (p.Ser2008Tyr)
c.9041C>A
c.11957C>A (p.Ser3986Tyr)
c.2111C>A (p.Ser704Tyr)
c.3313C>A
c.1260+398C>A
c.3128C>A
n.132C>A
c.11831C>A (p.Ser3944Tyr)
n.5760C>A
c.11960C>A (p.Ser3987Tyr)
2g.73601279C>GCA347265910ALMS1c.11576C>G (p.Ser3859Cys)
c.11167-906C>G (n.11167-906C>G)
c.4662C>G
c.8857C>G
c.6023C>G (p.Ser2008Cys)
c.9041C>G
c.11957C>G (p.Ser3986Cys)
c.2111C>G (p.Ser704Cys)
c.3313C>G
c.1260+398C>G
c.3128C>G
n.132C>G
c.11831C>G (p.Ser3944Cys)
n.5760C>G
c.11960C>G (p.Ser3987Cys)
2g.73601279C>TCA347265913ALMS1c.11576C>T (p.Ser3859Phe)
c.11167-906C>T (n.11167-906C>T)
c.4662C>T
c.8857C>T
c.6023C>T (p.Ser2008Phe)
c.9041C>T
c.11957C>T (p.Ser3986Phe)
c.2111C>T (p.Ser704Phe)
c.3313C>T
c.1260+398C>T
c.3128C>T
n.132C>T
c.11831C>T (p.Ser3944Phe)
n.5760C>T
c.11960C>T (p.Ser3987Phe)
2g.73601280C>ACA426783541ALMS1c.11577C>A (p.Ser3859=)
c.11167-905C>A (n.11167-905C>A)
c.4663C>A
c.8858C>A
c.6024C>A (p.Ser2008=)
c.9042C>A
c.11958C>A (p.Ser3986=)
c.2112C>A (p.Ser704=)
c.3314C>A
c.1260+399C>A
c.3129C>A
n.133C>A
c.11832C>A (p.Ser3944=)
n.5761C>A
c.11961C>A (p.Ser3987=)
2g.73601280C=CA1261033787ALMS1c.11577C= (p.Ser3859=)
c.11167-905C= (n.11167-905C=)
c.4663C=
c.8858C=
c.6024C= (p.Ser2008=)
c.9042C=
c.11958C= (p.Ser3986=)
c.2112C= (p.Ser704=)
c.3314C=
c.1260+399C=
c.3129C=
n.133C=
c.11832C= (p.Ser3944=)
n.5761C=
c.11961C= (p.Ser3987=)
2g.73601280C>GCA426783542ALMS1c.11577C>G (p.Ser3859=)
c.11167-905C>G (n.11167-905C>G)
c.4663C>G
c.8858C>G
c.6024C>G (p.Ser2008=)
c.9042C>G
c.11958C>G (p.Ser3986=)
c.2112C>G (p.Ser704=)
c.3314C>G
c.1260+399C>G
c.3129C>G
n.133C>G
c.11832C>G (p.Ser3944=)
n.5761C>G
c.11961C>G (p.Ser3987=)
2g.73601280C>TCA426783540ALMS1c.11577C>T (p.Ser3859=)
c.11167-905C>T (n.11167-905C>T)
c.4663C>T
c.8858C>T
c.6024C>T (p.Ser2008=)
c.9042C>T
c.11958C>T (p.Ser3986=)
c.2112C>T (p.Ser704=)
c.3314C>T
c.1260+399C>T
c.3129C>T
n.133C>T
c.11832C>T (p.Ser3944=)
n.5761C>T
c.11961C>T (p.Ser3987=)
 ClinVar dbSNP gnomAD v4
2g.73601281T>ACA347265915ALMS1c.11578T>A (p.Trp3860Arg)
c.11167-904T>A (n.11167-904T>A)
c.4664T>A
c.8859T>A
c.6025T>A (p.Trp2009Arg)
c.9043T>A
c.11959T>A (p.Trp3987Arg)
c.2113T>A (p.Trp705Arg)
c.3315T>A
c.1260+400T>A
c.3130T>A
n.134T>A
c.11833T>A (p.Trp3945Arg)
n.5762T>A
c.11962T>A (p.Trp3988Arg)
2g.73601281T>CCA1715392ALMS1c.11578T>C (p.Trp3860Arg)
c.11167-904T>C (n.11167-904T>C)
c.4664T>C
c.8859T>C
c.6025T>C (p.Trp2009Arg)
c.9043T>C
c.11959T>C (p.Trp3987Arg)
c.2113T>C (p.Trp705Arg)
c.3315T>C
c.1260+400T>C
c.3130T>C
n.134T>C
c.11833T>C (p.Trp3945Arg)
n.5762T>C
c.11962T>C (p.Trp3988Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601281T>GCA347265916ALMS1c.11578T>G (p.Trp3860Gly)
c.11167-904T>G (n.11167-904T>G)
c.4664T>G
c.8859T>G
c.6025T>G (p.Trp2009Gly)
c.9043T>G
c.11959T>G (p.Trp3987Gly)
c.2113T>G (p.Trp705Gly)
c.3315T>G
c.1260+400T>G
c.3130T>G
n.134T>G
c.11833T>G (p.Trp3945Gly)
n.5762T>G
c.11962T>G (p.Trp3988Gly)
2g.73601281T=CA1261033789ALMS1c.11578T= (p.Trp3860=)
c.11167-904T= (n.11167-904T=)
c.4664T=
c.8859T=
c.6025T= (p.Trp2009=)
c.9043T=
c.11959T= (p.Trp3987=)
c.2113T= (p.Trp705=)
c.3315T=
c.1260+400T=
c.3130T=
n.134T=
c.11833T= (p.Trp3945=)
n.5762T=
c.11962T= (p.Trp3988=)
2g.73601282G>ACA347265917ALMS1c.11579G>A (p.Trp3860Ter)
c.11167-903G>A (n.11167-903G>A)
c.4665G>A
c.8860G>A
c.6026G>A (p.Trp2009Ter)
c.9044G>A
c.11960G>A (p.Trp3987Ter)
c.2114G>A (p.Trp705Ter)
c.3316G>A
c.1260+401G>A
c.3131G>A
n.135G>A
c.11834G>A (p.Trp3945Ter)
n.5763G>A
c.11963G>A (p.Trp3988Ter)
 ClinVar
2g.73601282G>CCA347265919ALMS1c.11579G>C (p.Trp3860Ser)
c.11167-903G>C (n.11167-903G>C)
c.4665G>C
c.8860G>C
c.6026G>C (p.Trp2009Ser)
c.9044G>C
c.11960G>C (p.Trp3987Ser)
c.2114G>C (p.Trp705Ser)
c.3316G>C
c.1260+401G>C
c.3131G>C
n.135G>C
c.11834G>C (p.Trp3945Ser)
n.5763G>C
c.11963G>C (p.Trp3988Ser)
 gnomAD v4
2g.73601282G=CA1261033797ALMS1c.11579G= (p.Trp3860=)
c.11167-903G= (n.11167-903G=)
c.4665G=
c.8860G=
c.6026G= (p.Trp2009=)
c.9044G=
c.11960G= (p.Trp3987=)
c.2114G= (p.Trp705=)
c.3316G=
c.1260+401G=
c.3131G=
n.135G=
c.11834G= (p.Trp3945=)
n.5763G=
c.11963G= (p.Trp3988=)
2g.73601282G>TCA347265943ALMS1c.11579G>T (p.Trp3860Leu)
c.11167-903G>T (n.11167-903G>T)
c.4665G>T
c.8860G>T
c.6026G>T (p.Trp2009Leu)
c.9044G>T
c.11960G>T (p.Trp3987Leu)
c.2114G>T (p.Trp705Leu)
c.3316G>T
c.1260+401G>T
c.3131G>T
n.135G>T
c.11834G>T (p.Trp3945Leu)
n.5763G>T
c.11963G>T (p.Trp3988Leu)
 dbSNP
2g.73601283G>ACA347265950ALMS1c.11580G>A (p.Trp3860Ter)
c.11167-902G>A (n.11167-902G>A)
c.4666G>A
c.8861G>A
c.6027G>A (p.Trp2009Ter)
c.9045G>A
c.11961G>A (p.Trp3987Ter)
c.2115G>A (p.Trp705Ter)
c.3317G>A
c.1260+402G>A
c.3132G>A
n.136G>A
c.11835G>A (p.Trp3945Ter)
n.5764G>A
c.11964G>A (p.Trp3988Ter)
2g.73601283G>CCA347265951ALMS1c.11580G>C (p.Trp3860Cys)
c.11167-902G>C (n.11167-902G>C)
c.4666G>C
c.8861G>C
c.6027G>C (p.Trp2009Cys)
c.9045G>C
c.11961G>C (p.Trp3987Cys)
c.2115G>C (p.Trp705Cys)
c.3317G>C
c.1260+402G>C
c.3132G>C
n.136G>C
c.11835G>C (p.Trp3945Cys)
n.5764G>C
c.11964G>C (p.Trp3988Cys)
 gnomAD v4
2g.73601283G>TCA347265952ALMS1c.11580G>T (p.Trp3860Cys)
c.11167-902G>T (n.11167-902G>T)
c.4666G>T
c.8861G>T
c.6027G>T (p.Trp2009Cys)
c.9045G>T
c.11961G>T (p.Trp3987Cys)
c.2115G>T (p.Trp705Cys)
c.3317G>T
c.1260+402G>T
c.3132G>T
n.136G>T
c.11835G>T (p.Trp3945Cys)
n.5764G>T
c.11964G>T (p.Trp3988Cys)
2g.73601284T>ACA347265956ALMS1c.11581T>A (p.Phe3861Ile)
c.11167-901T>A (n.11167-901T>A)
c.4667T>A
c.8862T>A
c.6028T>A (p.Phe2010Ile)
c.9046T>A
c.11962T>A (p.Phe3988Ile)
c.2116T>A (p.Phe706Ile)
c.3318T>A
c.1260+403T>A
c.3133T>A
n.137T>A
c.11836T>A (p.Phe3946Ile)
n.5765T>A
c.11965T>A (p.Phe3989Ile)
2g.73601284T>CCA347265960ALMS1c.11581T>C (p.Phe3861Leu)
c.11167-901T>C (n.11167-901T>C)
c.4667T>C
c.8862T>C
c.6028T>C (p.Phe2010Leu)
c.9046T>C
c.11962T>C (p.Phe3988Leu)
c.2116T>C (p.Phe706Leu)
c.3318T>C
c.1260+403T>C
c.3133T>C
n.137T>C
c.11836T>C (p.Phe3946Leu)
n.5765T>C
c.11965T>C (p.Phe3989Leu)
2g.73601284T>GCA347265953ALMS1c.11581T>G (p.Phe3861Val)
c.11167-901T>G (n.11167-901T>G)
c.4667T>G
c.8862T>G
c.6028T>G (p.Phe2010Val)
c.9046T>G
c.11962T>G (p.Phe3988Val)
c.2116T>G (p.Phe706Val)
c.3318T>G
c.1260+403T>G
c.3133T>G
n.137T>G
c.11836T>G (p.Phe3946Val)
n.5765T>G
c.11965T>G (p.Phe3989Val)
2g.73601285T>ACA347265964ALMS1c.11582T>A (p.Phe3861Tyr)
c.11167-900T>A (n.11167-900T>A)
c.4668T>A
c.8863T>A
c.6029T>A (p.Phe2010Tyr)
c.9047T>A
c.11963T>A (p.Phe3988Tyr)
c.2117T>A (p.Phe706Tyr)
c.3319T>A
c.1260+404T>A
c.3134T>A
n.138T>A
c.11837T>A (p.Phe3946Tyr)
n.5766T>A
c.11966T>A (p.Phe3989Tyr)
2g.73601285T>CCA1715393ALMS1c.11582T>C (p.Phe3861Ser)
c.11167-900T>C (n.11167-900T>C)
c.4668T>C
c.8863T>C
c.6029T>C (p.Phe2010Ser)
c.9047T>C
c.11963T>C (p.Phe3988Ser)
c.2117T>C (p.Phe706Ser)
c.3319T>C
c.1260+404T>C
c.3134T>C
n.138T>C
c.11837T>C (p.Phe3946Ser)
n.5766T>C
c.11966T>C (p.Phe3989Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601285T>GCA347265970ALMS1c.11582T>G (p.Phe3861Cys)
c.11167-900T>G (n.11167-900T>G)
c.4668T>G
c.8863T>G
c.6029T>G (p.Phe2010Cys)
c.9047T>G
c.11963T>G (p.Phe3988Cys)
c.2117T>G (p.Phe706Cys)
c.3319T>G
c.1260+404T>G
c.3134T>G
n.138T>G
c.11837T>G (p.Phe3946Cys)
n.5766T>G
c.11966T>G (p.Phe3989Cys)
2g.73601285T=CA1261033803ALMS1c.11582T= (p.Phe3861=)
c.11167-900T= (n.11167-900T=)
c.4668T=
c.8863T=
c.6029T= (p.Phe2010=)
c.9047T=
c.11963T= (p.Phe3988=)
c.2117T= (p.Phe706=)
c.3319T=
c.1260+404T=
c.3134T=
n.138T=
c.11837T= (p.Phe3946=)
n.5766T=
c.11966T= (p.Phe3989=)
2g.73601286T>ACA347265976ALMS1c.11583T>A (p.Phe3861Leu)
c.11167-899T>A (n.11167-899T>A)
c.4669T>A
c.8864T>A
c.6030T>A (p.Phe2010Leu)
c.9048T>A
c.11964T>A (p.Phe3988Leu)
c.2118T>A (p.Phe706Leu)
c.3320T>A
c.1260+405T>A
c.3135T>A
n.139T>A
c.11838T>A (p.Phe3946Leu)
n.5767T>A
c.11967T>A (p.Phe3989Leu)
2g.73601286T>CCA426783543ALMS1c.11583T>C (p.Phe3861=)
c.11167-899T>C (n.11167-899T>C)
c.4669T>C
c.8864T>C
c.6030T>C (p.Phe2010=)
c.9048T>C
c.11964T>C (p.Phe3988=)
c.2118T>C (p.Phe706=)
c.3320T>C
c.1260+405T>C
c.3135T>C
n.139T>C
c.11838T>C (p.Phe3946=)
n.5767T>C
c.11967T>C (p.Phe3989=)
2g.73601286T>GCA347265980ALMS1c.11583T>G (p.Phe3861Leu)
c.11167-899T>G (n.11167-899T>G)
c.4669T>G
c.8864T>G
c.6030T>G (p.Phe2010Leu)
c.9048T>G
c.11964T>G (p.Phe3988Leu)
c.2118T>G (p.Phe706Leu)
c.3320T>G
c.1260+405T>G
c.3135T>G
n.139T>G
c.11838T>G (p.Phe3946Leu)
n.5767T>G
c.11967T>G (p.Phe3989Leu)
 ClinVar dbSNP
2g.73601287G>ACA347265990ALMS1c.11584G>A (p.Glu3862Lys)
c.11167-898G>A (n.11167-898G>A)
c.4670G>A
c.8865G>A
c.6031G>A (p.Glu2011Lys)
c.9049G>A
c.11965G>A (p.Glu3989Lys)
c.2119G>A (p.Glu707Lys)
c.3321G>A
c.1260+406G>A
c.3136G>A
n.140G>A
c.11839G>A (p.Glu3947Lys)
n.5768G>A
c.11968G>A (p.Glu3990Lys)
2g.73601287G>CCA347265984ALMS1c.11584G>C (p.Glu3862Gln)
c.11167-898G>C (n.11167-898G>C)
c.4670G>C
c.8865G>C
c.6031G>C (p.Glu2011Gln)
c.9049G>C
c.11965G>C (p.Glu3989Gln)
c.2119G>C (p.Glu707Gln)
c.3321G>C
c.1260+406G>C
c.3136G>C
n.140G>C
c.11839G>C (p.Glu3947Gln)
n.5768G>C
c.11968G>C (p.Glu3990Gln)
2g.73601287G>TCA347265988ALMS1c.11584G>T (p.Glu3862Ter)
c.11167-898G>T (n.11167-898G>T)
c.4670G>T
c.8865G>T
c.6031G>T (p.Glu2011Ter)
c.9049G>T
c.11965G>T (p.Glu3989Ter)
c.2119G>T (p.Glu707Ter)
c.3321G>T
c.1260+406G>T
c.3136G>T
n.140G>T
c.11839G>T (p.Glu3947Ter)
n.5768G>T
c.11968G>T (p.Glu3990Ter)
 gnomAD v4
2g.73601288A>CCA347265993ALMS1c.11585A>C (p.Glu3862Ala)
c.11167-897A>C (n.11167-897A>C)
c.4671A>C
c.8866A>C
c.6032A>C (p.Glu2011Ala)
c.9050A>C
c.11966A>C (p.Glu3989Ala)
c.2120A>C (p.Glu707Ala)
c.3322A>C
c.1260+407A>C
c.3137A>C
n.141A>C
c.11840A>C (p.Glu3947Ala)
n.5769A>C
c.11969A>C (p.Glu3990Ala)
2g.73601288A>GCA347265997ALMS1c.11585A>G (p.Glu3862Gly)
c.11167-897A>G (n.11167-897A>G)
c.4671A>G
c.8866A>G
c.6032A>G (p.Glu2011Gly)
c.9050A>G
c.11966A>G (p.Glu3989Gly)
c.2120A>G (p.Glu707Gly)
c.3322A>G
c.1260+407A>G
c.3137A>G
n.141A>G
c.11840A>G (p.Glu3947Gly)
n.5769A>G
c.11969A>G (p.Glu3990Gly)
2g.73601288A>TCA347266000ALMS1c.11585A>T (p.Glu3862Val)
c.11167-897A>T (n.11167-897A>T)
c.4671A>T
c.8866A>T
c.6032A>T (p.Glu2011Val)
c.9050A>T
c.11966A>T (p.Glu3989Val)
c.2120A>T (p.Glu707Val)
c.3322A>T
c.1260+407A>T
c.3137A>T
n.141A>T
c.11840A>T (p.Glu3947Val)
n.5769A>T
c.11969A>T (p.Glu3990Val)
2g.73601289A>CCA347266011ALMS1c.11586A>C (p.Glu3862Asp)
c.11167-896A>C (n.11167-896A>C)
c.4672A>C
c.8867A>C
c.6033A>C (p.Glu2011Asp)
c.9051A>C
c.11967A>C (p.Glu3989Asp)
c.2121A>C (p.Glu707Asp)
c.3323A>C
c.1260+408A>C
c.3138A>C
n.142A>C
c.11841A>C (p.Glu3947Asp)
n.5770A>C
c.11970A>C (p.Glu3990Asp)
2g.73601289A>GCA426783544ALMS1c.11586A>G (p.Glu3862=)
c.11167-896A>G (n.11167-896A>G)
c.4672A>G
c.8867A>G
c.6033A>G (p.Glu2011=)
c.9051A>G
c.11967A>G (p.Glu3989=)
c.2121A>G (p.Glu707=)
c.3323A>G
c.1260+408A>G
c.3138A>G
n.142A>G
c.11841A>G (p.Glu3947=)
n.5770A>G
c.11970A>G (p.Glu3990=)
2g.73601289A>TCA347266014ALMS1c.11586A>T (p.Glu3862Asp)
c.11167-896A>T (n.11167-896A>T)
c.4672A>T
c.8867A>T
c.6033A>T (p.Glu2011Asp)
c.9051A>T
c.11967A>T (p.Glu3989Asp)
c.2121A>T (p.Glu707Asp)
c.3323A>T
c.1260+408A>T
c.3138A>T
n.142A>T
c.11841A>T (p.Glu3947Asp)
n.5770A>T
c.11970A>T (p.Glu3990Asp)
2g.73601290C>ACA347266022ALMS1c.11587C>A (p.Pro3863Thr)
c.11167-895C>A (n.11167-895C>A)
c.4673C>A
c.8868C>A
c.6034C>A (p.Pro2012Thr)
c.9052C>A
c.11968C>A (p.Pro3990Thr)
c.2122C>A (p.Pro708Thr)
c.3324C>A
c.1260+409C>A
c.3139C>A
n.143C>A
c.11842C>A (p.Pro3948Thr)
n.5771C>A
c.11971C>A (p.Pro3991Thr)
2g.73601290C=CA1261033806ALMS1c.11587C= (p.Pro3863=)
c.11167-895C= (n.11167-895C=)
c.4673C=
c.8868C=
c.6034C= (p.Pro2012=)
c.9052C=
c.11968C= (p.Pro3990=)
c.2122C= (p.Pro708=)
c.3324C=
c.1260+409C=
c.3139C=
n.143C=
c.11842C= (p.Pro3948=)
n.5771C=
c.11971C= (p.Pro3991=)
2g.73601290C>GCA1715394ALMS1c.11587C>G (p.Pro3863Ala)
c.11167-895C>G (n.11167-895C>G)
c.4673C>G
c.8868C>G
c.6034C>G (p.Pro2012Ala)
c.9052C>G
c.11968C>G (p.Pro3990Ala)
c.2122C>G (p.Pro708Ala)
c.3324C>G
c.1260+409C>G
c.3139C>G
n.143C>G
c.11842C>G (p.Pro3948Ala)
n.5771C>G
c.11971C>G (p.Pro3991Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601290C>TCA347266017ALMS1c.11587C>T (p.Pro3863Ser)
c.11167-895C>T (n.11167-895C>T)
c.4673C>T
c.8868C>T
c.6034C>T (p.Pro2012Ser)
c.9052C>T
c.11968C>T (p.Pro3990Ser)
c.2122C>T (p.Pro708Ser)
c.3324C>T
c.1260+409C>T
c.3139C>T
n.143C>T
c.11842C>T (p.Pro3948Ser)
n.5771C>T
c.11971C>T (p.Pro3991Ser)
 dbSNP gnomAD v4
2g.73601291C>ACA347266025ALMS1c.11588C>A (p.Pro3863Gln)
c.11167-894C>A (n.11167-894C>A)
c.4674C>A
c.8869C>A
c.6035C>A (p.Pro2012Gln)
c.9053C>A
c.11969C>A (p.Pro3990Gln)
c.2123C>A (p.Pro708Gln)
c.3325C>A
c.1260+410C>A
c.3140C>A
n.144C>A
c.11843C>A (p.Pro3948Gln)
n.5772C>A
c.11972C>A (p.Pro3991Gln)
2g.73601291C>GCA347266031ALMS1c.11588C>G (p.Pro3863Arg)
c.11167-894C>G (n.11167-894C>G)
c.4674C>G
c.8869C>G
c.6035C>G (p.Pro2012Arg)
c.9053C>G
c.11969C>G (p.Pro3990Arg)
c.2123C>G (p.Pro708Arg)
c.3325C>G
c.1260+410C>G
c.3140C>G
n.144C>G
c.11843C>G (p.Pro3948Arg)
n.5772C>G
c.11972C>G (p.Pro3991Arg)
2g.73601291C>TCA347266029ALMS1c.11588C>T (p.Pro3863Leu)
c.11167-894C>T (n.11167-894C>T)
c.4674C>T
c.8869C>T
c.6035C>T (p.Pro2012Leu)
c.9053C>T
c.11969C>T (p.Pro3990Leu)
c.2123C>T (p.Pro708Leu)
c.3325C>T
c.1260+410C>T
c.3140C>T
n.144C>T
c.11843C>T (p.Pro3948Leu)
n.5772C>T
c.11972C>T (p.Pro3991Leu)
2g.73601292A=CA1261033809ALMS1c.11589A= (p.Pro3863=)
c.11167-893A= (n.11167-893A=)
c.4675A=
c.8870A=
c.6036A= (p.Pro2012=)
c.9054A=
c.11970A= (p.Pro3990=)
c.2124A= (p.Pro708=)
c.3326A=
c.1260+411A=
c.3141A=
n.145A=
c.11844A= (p.Pro3948=)
n.5773A=
c.11973A= (p.Pro3991=)
2g.73601292A>CCA426783545ALMS1c.11589A>C (p.Pro3863=)
c.11167-893A>C (n.11167-893A>C)
c.4675A>C
c.8870A>C
c.6036A>C (p.Pro2012=)
c.9054A>C
c.11970A>C (p.Pro3990=)
c.2124A>C (p.Pro708=)
c.3326A>C
c.1260+411A>C
c.3141A>C
n.145A>C
c.11844A>C (p.Pro3948=)
n.5773A>C
c.11973A>C (p.Pro3991=)
2g.73601292A>GCA1715395ALMS1c.11589A>G (p.Pro3863=)
c.11167-893A>G (n.11167-893A>G)
c.4675A>G
c.8870A>G
c.6036A>G (p.Pro2012=)
c.9054A>G
c.11970A>G (p.Pro3990=)
c.2124A>G (p.Pro708=)
c.3326A>G
c.1260+411A>G
c.3141A>G
n.145A>G
c.11844A>G (p.Pro3948=)
n.5773A>G
c.11973A>G (p.Pro3991=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601292A>TCA426783546ALMS1c.11589A>T (p.Pro3863=)
c.11167-893A>T (n.11167-893A>T)
c.4675A>T
c.8870A>T
c.6036A>T (p.Pro2012=)
c.9054A>T
c.11970A>T (p.Pro3990=)
c.2124A>T (p.Pro708=)
c.3326A>T
c.1260+411A>T
c.3141A>T
n.145A>T
c.11844A>T (p.Pro3948=)
n.5773A>T
c.11973A>T (p.Pro3991=)
2g.73601293A=CA1261033813ALMS1c.11590A= (p.Ile3864=)
c.11167-892A= (n.11167-892A=)
c.4676A=
c.8871A=
c.6037A= (p.Ile2013=)
c.9055A=
c.11971A= (p.Ile3991=)
c.2125A= (p.Ile709=)
c.3327A=
c.1260+412A=
c.3142A=
n.146A=
c.11845A= (p.Ile3949=)
n.5774A=
c.11974A= (p.Ile3992=)
2g.73601293A>CCA347266039ALMS1c.11590A>C (p.Ile3864Leu)
c.11167-892A>C (n.11167-892A>C)
c.4676A>C
c.8871A>C
c.6037A>C (p.Ile2013Leu)
c.9055A>C
c.11971A>C (p.Ile3991Leu)
c.2125A>C (p.Ile709Leu)
c.3327A>C
c.1260+412A>C
c.3142A>C
n.146A>C
c.11845A>C (p.Ile3949Leu)
n.5774A>C
c.11974A>C (p.Ile3992Leu)
 ClinVar
2g.73601293A>GCA1715396ALMS1c.11590A>G (p.Ile3864Val)
c.11167-892A>G (n.11167-892A>G)
c.4676A>G
c.8871A>G
c.6037A>G (p.Ile2013Val)
c.9055A>G
c.11971A>G (p.Ile3991Val)
c.2125A>G (p.Ile709Val)
c.3327A>G
c.1260+412A>G
c.3142A>G
n.146A>G
c.11845A>G (p.Ile3949Val)
n.5774A>G
c.11974A>G (p.Ile3992Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601293A>TCA347266045ALMS1c.11590A>T (p.Ile3864Leu)
c.11167-892A>T (n.11167-892A>T)
c.4676A>T
c.8871A>T
c.6037A>T (p.Ile2013Leu)
c.9055A>T
c.11971A>T (p.Ile3991Leu)
c.2125A>T (p.Ile709Leu)
c.3327A>T
c.1260+412A>T
c.3142A>T
n.146A>T
c.11845A>T (p.Ile3949Leu)
n.5774A>T
c.11974A>T (p.Ile3992Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73601294T>ACA347266049ALMS1c.11591T>A (p.Ile3864Lys)
c.11167-891T>A (n.11167-891T>A)
c.4677T>A
c.8872T>A
c.6038T>A (p.Ile2013Lys)
c.9056T>A
c.11972T>A (p.Ile3991Lys)
c.2126T>A (p.Ile709Lys)
c.3328T>A
c.1260+413T>A
c.3143T>A
n.147T>A
c.11846T>A (p.Ile3949Lys)
n.5775T>A
c.11975T>A (p.Ile3992Lys)
2g.73601294T>CCA347266051ALMS1c.11591T>C (p.Ile3864Thr)
c.11167-891T>C (n.11167-891T>C)
c.4677T>C
c.8872T>C
c.6038T>C (p.Ile2013Thr)
c.9056T>C
c.11972T>C (p.Ile3991Thr)
c.2126T>C (p.Ile709Thr)
c.3328T>C
c.1260+413T>C
c.3143T>C
n.147T>C
c.11846T>C (p.Ile3949Thr)
n.5775T>C
c.11975T>C (p.Ile3992Thr)
2g.73601294T>GCA347266052ALMS1c.11591T>G (p.Ile3864Arg)
c.11167-891T>G (n.11167-891T>G)
c.4677T>G
c.8872T>G
c.6038T>G (p.Ile2013Arg)
c.9056T>G
c.11972T>G (p.Ile3991Arg)
c.2126T>G (p.Ile709Arg)
c.3328T>G
c.1260+413T>G
c.3143T>G
n.147T>G
c.11846T>G (p.Ile3949Arg)
n.5775T>G
c.11975T>G (p.Ile3992Arg)
2g.73601295A>CCA426783547ALMS1c.11592A>C (p.Ile3864=)
c.11167-890A>C (n.11167-890A>C)
c.4678A>C
c.8873A>C
c.6039A>C (p.Ile2013=)
c.9057A>C
c.11973A>C (p.Ile3991=)
c.2127A>C (p.Ile709=)
c.3329A>C
c.1260+414A>C
c.3144A>C
n.148A>C
c.11847A>C (p.Ile3949=)
n.5776A>C
c.11976A>C (p.Ile3992=)
2g.73601295A>GCA347266063ALMS1c.11592A>G (p.Ile3864Met)
c.11167-890A>G (n.11167-890A>G)
c.4678A>G
c.8873A>G
c.6039A>G (p.Ile2013Met)
c.9057A>G
c.11973A>G (p.Ile3991Met)
c.2127A>G (p.Ile709Met)
c.3329A>G
c.1260+414A>G
c.3144A>G
n.148A>G
c.11847A>G (p.Ile3949Met)
n.5776A>G
c.11976A>G (p.Ile3992Met)
2g.73601295A>TCA426783548ALMS1c.11592A>T (p.Ile3864=)
c.11167-890A>T (n.11167-890A>T)
c.4678A>T
c.8873A>T
c.6039A>T (p.Ile2013=)
c.9057A>T
c.11973A>T (p.Ile3991=)
c.2127A>T (p.Ile709=)
c.3329A>T
c.1260+414A>T
c.3144A>T
n.148A>T
c.11847A>T (p.Ile3949=)
n.5776A>T
c.11976A>T (p.Ile3992=)
2g.73601296A>CCA347266067ALMS1c.11593A>C (p.Thr3865Pro)
c.11167-889A>C (n.11167-889A>C)
c.4679A>C
c.8874A>C
c.6040A>C (p.Thr2014Pro)
c.9058A>C
c.11974A>C (p.Thr3992Pro)
c.2128A>C (p.Thr710Pro)
c.3330A>C
c.1260+415A>C
c.3145A>C
n.149A>C
c.11848A>C (p.Thr3950Pro)
n.5777A>C
c.11977A>C (p.Thr3993Pro)
2g.73601296A>GCA347266073ALMS1c.11593A>G (p.Thr3865Ala)
c.11167-889A>G (n.11167-889A>G)
c.4679A>G
c.8874A>G
c.6040A>G (p.Thr2014Ala)
c.9058A>G
c.11974A>G (p.Thr3992Ala)
c.2128A>G (p.Thr710Ala)
c.3330A>G
c.1260+415A>G
c.3145A>G
n.149A>G
c.11848A>G (p.Thr3950Ala)
n.5777A>G
c.11977A>G (p.Thr3993Ala)
2g.73601296A>TCA347266076ALMS1c.11593A>T (p.Thr3865Ser)
c.11167-889A>T (n.11167-889A>T)
c.4679A>T
c.8874A>T
c.6040A>T (p.Thr2014Ser)
c.9058A>T
c.11974A>T (p.Thr3992Ser)
c.2128A>T (p.Thr710Ser)
c.3330A>T
c.1260+415A>T
c.3145A>T
n.149A>T
c.11848A>T (p.Thr3950Ser)
n.5777A>T
c.11977A>T (p.Thr3993Ser)
2g.73601297C>ACA347266087ALMS1c.11594C>A (p.Thr3865Asn)
c.11167-888C>A (n.11167-888C>A)
c.4680C>A
c.8875C>A
c.6041C>A (p.Thr2014Asn)
c.9059C>A
c.11975C>A (p.Thr3992Asn)
c.2129C>A (p.Thr710Asn)
c.3331C>A
c.1260+416C>A
c.3146C>A
n.150C>A
c.11849C>A (p.Thr3950Asn)
n.5778C>A
c.11978C>A (p.Thr3993Asn)
 dbSNP
2g.73601297C=CA1261033821ALMS1c.11594C= (p.Thr3865=)
c.11167-888C= (n.11167-888C=)
c.4680C=
c.8875C=
c.6041C= (p.Thr2014=)
c.9059C=
c.11975C= (p.Thr3992=)
c.2129C= (p.Thr710=)
c.3331C=
c.1260+416C=
c.3146C=
n.150C=
c.11849C= (p.Thr3950=)
n.5778C=
c.11978C= (p.Thr3993=)
2g.73601297C>GCA347266081ALMS1c.11594C>G (p.Thr3865Ser)
c.11167-888C>G (n.11167-888C>G)
c.4680C>G
c.8875C>G
c.6041C>G (p.Thr2014Ser)
c.9059C>G
c.11975C>G (p.Thr3992Ser)
c.2129C>G (p.Thr710Ser)
c.3331C>G
c.1260+416C>G
c.3146C>G
n.150C>G
c.11849C>G (p.Thr3950Ser)
n.5778C>G
c.11978C>G (p.Thr3993Ser)
2g.73601297C>TCA347266079ALMS1c.11594C>T (p.Thr3865Ile)
c.11167-888C>T (n.11167-888C>T)
c.4680C>T
c.8875C>T
c.6041C>T (p.Thr2014Ile)
c.9059C>T
c.11975C>T (p.Thr3992Ile)
c.2129C>T (p.Thr710Ile)
c.3331C>T
c.1260+416C>T
c.3146C>T
n.150C>T
c.11849C>T (p.Thr3950Ile)
n.5778C>T
c.11978C>T (p.Thr3993Ile)
 dbSNP
2g.73601298C>ACA426783549ALMS1c.11595C>A (p.Thr3865=)
c.11167-887C>A (n.11167-887C>A)
c.4681C>A
c.8876C>A
c.6042C>A (p.Thr2014=)
c.9060C>A
c.11976C>A (p.Thr3992=)
c.2130C>A (p.Thr710=)
c.3332C>A
c.1260+417C>A
c.3147C>A
n.151C>A
c.11850C>A (p.Thr3950=)
n.5779C>A
c.11979C>A (p.Thr3993=)
2g.73601298C>GCA426783550ALMS1c.11595C>G (p.Thr3865=)
c.11167-887C>G (n.11167-887C>G)
c.4681C>G
c.8876C>G
c.6042C>G (p.Thr2014=)
c.9060C>G
c.11976C>G (p.Thr3992=)
c.2130C>G (p.Thr710=)
c.3332C>G
c.1260+417C>G
c.3147C>G
n.151C>G
c.11850C>G (p.Thr3950=)
n.5779C>G
c.11979C>G (p.Thr3993=)
 ClinVar
2g.73601298C>TCA426783551ALMS1c.11595C>T (p.Thr3865=)
c.11167-887C>T (n.11167-887C>T)
c.4681C>T
c.8876C>T
c.6042C>T (p.Thr2014=)
c.9060C>T
c.11976C>T (p.Thr3992=)
c.2130C>T (p.Thr710=)
c.3332C>T
c.1260+417C>T
c.3147C>T
n.151C>T
c.11850C>T (p.Thr3950=)
n.5779C>T
c.11979C>T (p.Thr3993=)
2g.73601299A>CCA347266093ALMS1c.11596A>C (p.Lys3866Gln)
c.11167-886A>C (n.11167-886A>C)
c.4682A>C
c.8877A>C
c.6043A>C (p.Lys2015Gln)
c.9061A>C
c.11977A>C (p.Lys3993Gln)
c.2131A>C (p.Lys711Gln)
c.3333A>C
c.1260+418A>C
c.3148A>C
n.152A>C
c.11851A>C (p.Lys3951Gln)
n.5780A>C
c.11980A>C (p.Lys3994Gln)
2g.73601299A>GCA347266097ALMS1c.11596A>G (p.Lys3866Glu)
c.11167-886A>G (n.11167-886A>G)
c.4682A>G
c.8877A>G
c.6043A>G (p.Lys2015Glu)
c.9061A>G
c.11977A>G (p.Lys3993Glu)
c.2131A>G (p.Lys711Glu)
c.3333A>G
c.1260+418A>G
c.3148A>G
n.152A>G
c.11851A>G (p.Lys3951Glu)
n.5780A>G
c.11980A>G (p.Lys3994Glu)
2g.73601299A>TCA347266099ALMS1c.11596A>T (p.Lys3866Ter)
c.11167-886A>T (n.11167-886A>T)
c.4682A>T
c.8877A>T
c.6043A>T (p.Lys2015Ter)
c.9061A>T
c.11977A>T (p.Lys3993Ter)
c.2131A>T (p.Lys711Ter)
c.3333A>T
c.1260+418A>T
c.3148A>T
n.152A>T
c.11851A>T (p.Lys3951Ter)
n.5780A>T
c.11980A>T (p.Lys3994Ter)
2g.73601300A>CCA347266112ALMS1c.11597A>C (p.Lys3866Thr)
c.11167-885A>C (n.11167-885A>C)
c.4683A>C
c.8878A>C
c.6044A>C (p.Lys2015Thr)
c.9062A>C
c.11978A>C (p.Lys3993Thr)
c.2132A>C (p.Lys711Thr)
c.3334A>C
c.1260+419A>C
c.3149A>C
n.153A>C
c.11852A>C (p.Lys3951Thr)
n.5781A>C
c.11981A>C (p.Lys3994Thr)
2g.73601300A>GCA347266118ALMS1c.11597A>G (p.Lys3866Arg)
c.11167-885A>G (n.11167-885A>G)
c.4683A>G
c.8878A>G
c.6044A>G (p.Lys2015Arg)
c.9062A>G
c.11978A>G (p.Lys3993Arg)
c.2132A>G (p.Lys711Arg)
c.3334A>G
c.1260+419A>G
c.3149A>G
n.153A>G
c.11852A>G (p.Lys3951Arg)
n.5781A>G
c.11981A>G (p.Lys3994Arg)
2g.73601300A>TCA347266126ALMS1c.11597A>T (p.Lys3866Met)
c.11167-885A>T (n.11167-885A>T)
c.4683A>T
c.8878A>T
c.6044A>T (p.Lys2015Met)
c.9062A>T
c.11978A>T (p.Lys3993Met)
c.2132A>T (p.Lys711Met)
c.3334A>T
c.1260+419A>T
c.3149A>T
n.153A>T
c.11852A>T (p.Lys3951Met)
n.5781A>T
c.11981A>T (p.Lys3994Met)
2g.73601301G>ACA426783552ALMS1c.11598G>A (p.Lys3866=)
c.11167-884G>A (n.11167-884G>A)
c.4684G>A
c.8879G>A
c.6045G>A (p.Lys2015=)
c.9063G>A
c.11979G>A (p.Lys3993=)
c.2133G>A (p.Lys711=)
c.3335G>A
c.1260+420G>A
c.3150G>A
n.154G>A
c.11853G>A (p.Lys3951=)
n.5782G>A
c.11982G>A (p.Lys3994=)
 dbSNP gnomAD v3 gnomAD v4
2g.73601301G>CCA347266130ALMS1c.11598G>C (p.Lys3866Asn)
c.11167-884G>C (n.11167-884G>C)
c.4684G>C
c.8879G>C
c.6045G>C (p.Lys2015Asn)
c.9063G>C
c.11979G>C (p.Lys3993Asn)
c.2133G>C (p.Lys711Asn)
c.3335G>C
c.1260+420G>C
c.3150G>C
n.154G>C
c.11853G>C (p.Lys3951Asn)
n.5782G>C
c.11982G>C (p.Lys3994Asn)
2g.73601301G=CA1261033823ALMS1c.11598G= (p.Lys3866=)
c.11167-884G= (n.11167-884G=)
c.4684G=
c.8879G=
c.6045G= (p.Lys2015=)
c.9063G=
c.11979G= (p.Lys3993=)
c.2133G= (p.Lys711=)
c.3335G=
c.1260+420G=
c.3150G=
n.154G=
c.11853G= (p.Lys3951=)
n.5782G=
c.11982G= (p.Lys3994=)
2g.73601301G>TCA347266131ALMS1c.11598G>T (p.Lys3866Asn)
c.11167-884G>T (n.11167-884G>T)
c.4684G>T
c.8879G>T
c.6045G>T (p.Lys2015Asn)
c.9063G>T
c.11979G>T (p.Lys3993Asn)
c.2133G>T (p.Lys711Asn)
c.3335G>T
c.1260+420G>T
c.3150G>T
n.154G>T
c.11853G>T (p.Lys3951Asn)
n.5782G>T
c.11982G>T (p.Lys3994Asn)
2g.73601301_73601302insTCA50337333ALMS1c.11598_11599insT (p.Thr3867TyrfsTer?)
c.11167-884_11167-883insT (n.11167-884_11167-883insT)
c.4684_4685insT
c.8879_8880insT
c.6045_6046insT (p.Thr2016TyrfsTer?)
c.9063_9064insT
c.11979_11980insT (p.Thr3994TyrfsTer?)
c.2133_2134insT (p.Thr712TyrfsTer?)
c.3335_3336insT
c.1260+420_1260+421insT
c.3150_3151insT
n.154_155insT
c.11853_11854insT (p.Thr3952TyrfsTer?)
n.5782_5783insT
c.11982_11983insT (p.Thr3995TyrfsTer?)
 dbSNP
2g.73601302A=CA1261033827ALMS1c.11599A= (p.Thr3867=)
c.11167-883A= (n.11167-883A=)
c.4685A=
c.8880A=
c.6046A= (p.Thr2016=)
c.9064A=
c.11980A= (p.Thr3994=)
c.2134A= (p.Thr712=)
c.3336A=
c.1260+421A=
c.3151A=
n.155A=
c.11854A= (p.Thr3952=)
n.5783A=
c.11983A= (p.Thr3995=)
2g.73601302A>CCA347266140ALMS1c.11599A>C (p.Thr3867Pro)
c.11167-883A>C (n.11167-883A>C)
c.4685A>C
c.8880A>C
c.6046A>C (p.Thr2016Pro)
c.9064A>C
c.11980A>C (p.Thr3994Pro)
c.2134A>C (p.Thr712Pro)
c.3336A>C
c.1260+421A>C
c.3151A>C
n.155A>C
c.11854A>C (p.Thr3952Pro)
n.5783A>C
c.11983A>C (p.Thr3995Pro)
 dbSNP
2g.73601302A>GCA347266143ALMS1c.11599A>G (p.Thr3867Ala)
c.11167-883A>G (n.11167-883A>G)
c.4685A>G
c.8880A>G
c.6046A>G (p.Thr2016Ala)
c.9064A>G
c.11980A>G (p.Thr3994Ala)
c.2134A>G (p.Thr712Ala)
c.3336A>G
c.1260+421A>G
c.3151A>G
n.155A>G
c.11854A>G (p.Thr3952Ala)
n.5783A>G
c.11983A>G (p.Thr3995Ala)
 ClinVar gnomAD v4
2g.73601302A>TCA347266147ALMS1c.11599A>T (p.Thr3867Ser)
c.11167-883A>T (n.11167-883A>T)
c.4685A>T
c.8880A>T
c.6046A>T (p.Thr2016Ser)
c.9064A>T
c.11980A>T (p.Thr3994Ser)
c.2134A>T (p.Thr712Ser)
c.3336A>T
c.1260+421A>T
c.3151A>T
n.155A>T
c.11854A>T (p.Thr3952Ser)
n.5783A>T
c.11983A>T (p.Thr3995Ser)
2g.73601303C>ACA347266152ALMS1c.11600C>A (p.Thr3867Asn)
c.11167-882C>A (n.11167-882C>A)
c.4686C>A
c.8881C>A
c.6047C>A (p.Thr2016Asn)
c.9065C>A
c.11981C>A (p.Thr3994Asn)
c.2135C>A (p.Thr712Asn)
c.3337C>A
c.1260+422C>A
c.3152C>A
n.156C>A
c.11855C>A (p.Thr3952Asn)
n.5784C>A
c.11984C>A (p.Thr3995Asn)
2g.73601303C=CA1261033830ALMS1c.11600C= (p.Thr3867=)
c.11167-882C= (n.11167-882C=)
c.4686C=
c.8881C=
c.6047C= (p.Thr2016=)
c.9065C=
c.11981C= (p.Thr3994=)
c.2135C= (p.Thr712=)
c.3337C=
c.1260+422C=
c.3152C=
n.156C=
c.11855C= (p.Thr3952=)
n.5784C=
c.11984C= (p.Thr3995=)
2g.73601303C>GCA50337337ALMS1c.11600C>G (p.Thr3867Ser)
c.11167-882C>G (n.11167-882C>G)
c.4686C>G
c.8881C>G
c.6047C>G (p.Thr2016Ser)
c.9065C>G
c.11981C>G (p.Thr3994Ser)
c.2135C>G (p.Thr712Ser)
c.3337C>G
c.1260+422C>G
c.3152C>G
n.156C>G
c.11855C>G (p.Thr3952Ser)
n.5784C>G
c.11984C>G (p.Thr3995Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.73601303C>TCA347266149ALMS1c.11600C>T (p.Thr3867Ile)
c.11167-882C>T (n.11167-882C>T)
c.4686C>T
c.8881C>T
c.6047C>T (p.Thr2016Ile)
c.9065C>T
c.11981C>T (p.Thr3994Ile)
c.2135C>T (p.Thr712Ile)
c.3337C>T
c.1260+422C>T
c.3152C>T
n.156C>T
c.11855C>T (p.Thr3952Ile)
n.5784C>T
c.11984C>T (p.Thr3995Ile)
 gnomAD v4
2g.73601304C>ACA426783553ALMS1c.11601C>A (p.Thr3867=)
c.11167-881C>A (n.11167-881C>A)
c.4687C>A
c.8882C>A
c.6048C>A (p.Thr2016=)
c.9066C>A
c.11982C>A (p.Thr3994=)
c.2136C>A (p.Thr712=)
c.3338C>A
c.1260+423C>A
c.3153C>A
n.157C>A
c.11856C>A (p.Thr3952=)
n.5785C>A
c.11985C>A (p.Thr3995=)
2g.73601304C>GCA426783554ALMS1c.11601C>G (p.Thr3867=)
c.11167-881C>G (n.11167-881C>G)
c.4687C>G
c.8882C>G
c.6048C>G (p.Thr2016=)
c.9066C>G
c.11982C>G (p.Thr3994=)
c.2136C>G (p.Thr712=)
c.3338C>G
c.1260+423C>G
c.3153C>G
n.157C>G
c.11856C>G (p.Thr3952=)
n.5785C>G
c.11985C>G (p.Thr3995=)
 dbSNP gnomAD v4
2g.73601304C>TCA426783555ALMS1c.11601C>T (p.Thr3867=)
c.11167-881C>T (n.11167-881C>T)
c.4687C>T
c.8882C>T
c.6048C>T (p.Thr2016=)
c.9066C>T
c.11982C>T (p.Thr3994=)
c.2136C>T (p.Thr712=)
c.3338C>T
c.1260+423C>T
c.3153C>T
n.157C>T
c.11856C>T (p.Thr3952=)
n.5785C>T
c.11985C>T (p.Thr3995=)
2g.73601305A>CCA426783556ALMS1c.11602A>C (p.Arg3868=)
c.11167-880A>C (n.11167-880A>C)
c.4688A>C
c.8883A>C
c.6049A>C (p.Arg2017=)
c.9067A>C
c.11983A>C (p.Arg3995=)
c.2137A>C (p.Arg713=)
c.3339A>C
c.1260+424A>C
c.3154A>C
n.158A>C
c.11857A>C (p.Arg3953=)
n.5786A>C
c.11986A>C (p.Arg3996=)
2g.73601305A>GCA347266156ALMS1c.11602A>G (p.Arg3868Gly)
c.11167-880A>G (n.11167-880A>G)
c.4688A>G
c.8883A>G
c.6049A>G (p.Arg2017Gly)
c.9067A>G
c.11983A>G (p.Arg3995Gly)
c.2137A>G (p.Arg713Gly)
c.3339A>G
c.1260+424A>G
c.3154A>G
n.158A>G
c.11857A>G (p.Arg3953Gly)
n.5786A>G
c.11986A>G (p.Arg3996Gly)
2g.73601305A>TCA347266159ALMS1c.11602A>T (p.Arg3868Ter)
c.11167-880A>T (n.11167-880A>T)
c.4688A>T
c.8883A>T
c.6049A>T (p.Arg2017Ter)
c.9067A>T
c.11983A>T (p.Arg3995Ter)
c.2137A>T (p.Arg713Ter)
c.3339A>T
c.1260+424A>T
c.3154A>T
n.158A>T
c.11857A>T (p.Arg3953Ter)
n.5786A>T
c.11986A>T (p.Arg3996Ter)
2g.73601306G>ACA347266161ALMS1c.11603G>A (p.Arg3868Lys)
c.11167-879G>A (n.11167-879G>A)
c.4689G>A
c.8884G>A
c.6050G>A (p.Arg2017Lys)
c.9068G>A
c.11984G>A (p.Arg3995Lys)
c.2138G>A (p.Arg713Lys)
c.3340G>A
c.1260+425G>A
c.3155G>A
n.159G>A
c.11858G>A (p.Arg3953Lys)
n.5787G>A
c.11987G>A (p.Arg3996Lys)
2g.73601306G>CCA347266164ALMS1c.11603G>C (p.Arg3868Thr)
c.11167-879G>C (n.11167-879G>C)
c.4689G>C
c.8884G>C
c.6050G>C (p.Arg2017Thr)
c.9068G>C
c.11984G>C (p.Arg3995Thr)
c.2138G>C (p.Arg713Thr)
c.3340G>C
c.1260+425G>C
c.3155G>C
n.159G>C
c.11858G>C (p.Arg3953Thr)
n.5787G>C
c.11987G>C (p.Arg3996Thr)
2g.73601306G>TCA347266174ALMS1c.11603G>T (p.Arg3868Ile)
c.11167-879G>T (n.11167-879G>T)
c.4689G>T
c.8884G>T
c.6050G>T (p.Arg2017Ile)
c.9068G>T
c.11984G>T (p.Arg3995Ile)
c.2138G>T (p.Arg713Ile)
c.3340G>T
c.1260+425G>T
c.3155G>T
n.159G>T
c.11858G>T (p.Arg3953Ile)
n.5787G>T
c.11987G>T (p.Arg3996Ile)
2g.73601307A>CCA347266180ALMS1c.11604A>C (p.Arg3868Ser)
c.11167-878A>C (n.11167-878A>C)
c.4690A>C
c.8885A>C
c.6051A>C (p.Arg2017Ser)
c.9069A>C
c.11985A>C (p.Arg3995Ser)
c.2139A>C (p.Arg713Ser)
c.3341A>C
c.1260+426A>C
c.3156A>C
n.160A>C
c.11859A>C (p.Arg3953Ser)
n.5788A>C
c.11988A>C (p.Arg3996Ser)
2g.73601307A>GCA426783557ALMS1c.11604A>G (p.Arg3868=)
c.11167-878A>G (n.11167-878A>G)
c.4690A>G
c.8885A>G
c.6051A>G (p.Arg2017=)
c.9069A>G
c.11985A>G (p.Arg3995=)
c.2139A>G (p.Arg713=)
c.3341A>G
c.1260+426A>G
c.3156A>G
n.160A>G
c.11859A>G (p.Arg3953=)
n.5788A>G
c.11988A>G (p.Arg3996=)
2g.73601307A>TCA347266183ALMS1c.11604A>T (p.Arg3868Ser)
c.11167-878A>T (n.11167-878A>T)
c.4690A>T
c.8885A>T
c.6051A>T (p.Arg2017Ser)
c.9069A>T
c.11985A>T (p.Arg3995Ser)
c.2139A>T (p.Arg713Ser)
c.3341A>T
c.1260+426A>T
c.3156A>T
n.160A>T
c.11859A>T (p.Arg3953Ser)
n.5788A>T
c.11988A>T (p.Arg3996Ser)
2g.73601308C>ACA347266188ALMS1c.11605C>A (p.Pro3869Thr)
c.11167-877C>A (n.11167-877C>A)
c.4691C>A
c.8886C>A
c.6052C>A (p.Pro2018Thr)
c.9070C>A
c.11986C>A (p.Pro3996Thr)
c.2140C>A (p.Pro714Thr)
c.3342C>A
c.1260+427C>A
c.3157C>A
n.161C>A
c.11860C>A (p.Pro3954Thr)
n.5789C>A
c.11989C>A (p.Pro3997Thr)
2g.73601308C=CA1261033833ALMS1c.11605C= (p.Pro3869=)
c.11167-877C= (n.11167-877C=)
c.4691C=
c.8886C=
c.6052C= (p.Pro2018=)
c.9070C=
c.11986C= (p.Pro3996=)
c.2140C= (p.Pro714=)
c.3342C=
c.1260+427C=
c.3157C=
n.161C=
c.11860C= (p.Pro3954=)
n.5789C=
c.11989C= (p.Pro3997=)
2g.73601308C>GCA347266191ALMS1c.11605C>G (p.Pro3869Ala)
c.11167-877C>G (n.11167-877C>G)
c.4691C>G
c.8886C>G
c.6052C>G (p.Pro2018Ala)
c.9070C>G
c.11986C>G (p.Pro3996Ala)
c.2140C>G (p.Pro714Ala)
c.3342C>G
c.1260+427C>G
c.3157C>G
n.161C>G
c.11860C>G (p.Pro3954Ala)
n.5789C>G
c.11989C>G (p.Pro3997Ala)
2g.73601308C>TCA347266193ALMS1c.11605C>T (p.Pro3869Ser)
c.11167-877C>T (n.11167-877C>T)
c.4691C>T
c.8886C>T
c.6052C>T (p.Pro2018Ser)
c.9070C>T
c.11986C>T (p.Pro3996Ser)
c.2140C>T (p.Pro714Ser)
c.3342C>T
c.1260+427C>T
c.3157C>T
n.161C>T
c.11860C>T (p.Pro3954Ser)
n.5789C>T
c.11989C>T (p.Pro3997Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73601309C>ACA347266197ALMS1c.11606C>A (p.Pro3869His)
c.11167-876C>A (n.11167-876C>A)
c.4692C>A
c.8887C>A
c.6053C>A (p.Pro2018His)
c.9071C>A
c.11987C>A (p.Pro3996His)
c.2141C>A (p.Pro714His)
c.3343C>A
c.1260+428C>A
c.3158C>A
n.162C>A
c.11861C>A (p.Pro3954His)
n.5790C>A
c.11990C>A (p.Pro3997His)
 dbSNP gnomAD v3 gnomAD v4
2g.73601309C=CA1261033839ALMS1c.11606C= (p.Pro3869=)
c.11167-876C= (n.11167-876C=)
c.4692C=
c.8887C=
c.6053C= (p.Pro2018=)
c.9071C=
c.11987C= (p.Pro3996=)
c.2141C= (p.Pro714=)
c.3343C=
c.1260+428C=
c.3158C=
n.162C=
c.11861C= (p.Pro3954=)
n.5790C=
c.11990C= (p.Pro3997=)
2g.73601309C>GCA347266200ALMS1c.11606C>G (p.Pro3869Arg)
c.11167-876C>G (n.11167-876C>G)
c.4692C>G
c.8887C>G
c.6053C>G (p.Pro2018Arg)
c.9071C>G
c.11987C>G (p.Pro3996Arg)
c.2141C>G (p.Pro714Arg)
c.3343C>G
c.1260+428C>G
c.3158C>G
n.162C>G
c.11861C>G (p.Pro3954Arg)
n.5790C>G
c.11990C>G (p.Pro3997Arg)
2g.73601309C>TCA347266203ALMS1c.11606C>T (p.Pro3869Leu)
c.11167-876C>T (n.11167-876C>T)
c.4692C>T
c.8887C>T
c.6053C>T (p.Pro2018Leu)
c.9071C>T
c.11987C>T (p.Pro3996Leu)
c.2141C>T (p.Pro714Leu)
c.3343C>T
c.1260+428C>T
c.3158C>T
n.162C>T
c.11861C>T (p.Pro3954Leu)
n.5790C>T
c.11990C>T (p.Pro3997Leu)
2g.73601310C>ACA426783558ALMS1c.11607C>A (p.Pro3869=)
c.11167-875C>A (n.11167-875C>A)
c.4693C>A
c.8888C>A
c.6054C>A (p.Pro2018=)
c.9072C>A
c.11988C>A (p.Pro3996=)
c.2142C>A (p.Pro714=)
c.3344C>A
c.1260+429C>A
c.3159C>A
n.163C>A
c.11862C>A (p.Pro3954=)
n.5791C>A
c.11991C>A (p.Pro3997=)
2g.73601310C>GCA426783559ALMS1c.11607C>G (p.Pro3869=)
c.11167-875C>G (n.11167-875C>G)
c.4693C>G
c.8888C>G
c.6054C>G (p.Pro2018=)
c.9072C>G
c.11988C>G (p.Pro3996=)
c.2142C>G (p.Pro714=)
c.3344C>G
c.1260+429C>G
c.3159C>G
n.163C>G
c.11862C>G (p.Pro3954=)
n.5791C>G
c.11991C>G (p.Pro3997=)
 gnomAD v4
2g.73601310C>TCA426783560ALMS1c.11607C>T (p.Pro3869=)
c.11167-875C>T (n.11167-875C>T)
c.4693C>T
c.8888C>T
c.6054C>T (p.Pro2018=)
c.9072C>T
c.11988C>T (p.Pro3996=)
c.2142C>T (p.Pro714=)
c.3344C>T
c.1260+429C>T
c.3159C>T
n.163C>T
c.11862C>T (p.Pro3954=)
n.5791C>T
c.11991C>T (p.Pro3997=)
2g.73601310_73601311insAGCCA1261033842ALMS1c.11607_11608insAGC (p.Pro3869_Trp3870insSer)
c.11167-875_11167-874insAGC (n.11167-875_11167-874insAGC)
c.4693_4694insAGC
c.8888_8889insAGC
c.6054_6055insAGC (p.Pro2018_Trp2019insSer)
c.9072_9073insAGC
c.11988_11989insAGC (p.Pro3996_Trp3997insSer)
c.2142_2143insAGC (p.Pro714_Trp715insSer)
c.3344_3345insAGC
c.1260+429_1260+430insAGC
c.3159_3160insAGC
n.163_164insAGC
c.11862_11863insAGC (p.Pro3954_Trp3955insSer)
n.5791_5792insAGC
c.11991_11992insAGC (p.Pro3997_Trp3998insSer)
 dbSNP
2g.73601311T>ACA347266212ALMS1c.11608T>A (p.Trp3870Arg)
c.11167-874T>A (n.11167-874T>A)
c.4694T>A
c.8889T>A
c.6055T>A (p.Trp2019Arg)
c.9073T>A
c.11989T>A (p.Trp3997Arg)
c.2143T>A (p.Trp715Arg)
c.3345T>A
c.1260+430T>A
c.3160T>A
n.164T>A
c.11863T>A (p.Trp3955Arg)
n.5792T>A
c.11992T>A (p.Trp3998Arg)
2g.73601311T>CCA347266207ALMS1c.11608T>C (p.Trp3870Arg)
c.11167-874T>C (n.11167-874T>C)
c.4694T>C
c.8889T>C
c.6055T>C (p.Trp2019Arg)
c.9073T>C
c.11989T>C (p.Trp3997Arg)
c.2143T>C (p.Trp715Arg)
c.3345T>C
c.1260+430T>C
c.3160T>C
n.164T>C
c.11863T>C (p.Trp3955Arg)
n.5792T>C
c.11992T>C (p.Trp3998Arg)
 dbSNP
2g.73601311T>GCA347266209ALMS1c.11608T>G (p.Trp3870Gly)
c.11167-874T>G (n.11167-874T>G)
c.4694T>G
c.8889T>G
c.6055T>G (p.Trp2019Gly)
c.9073T>G
c.11989T>G (p.Trp3997Gly)
c.2143T>G (p.Trp715Gly)
c.3345T>G
c.1260+430T>G
c.3160T>G
n.164T>G
c.11863T>G (p.Trp3955Gly)
n.5792T>G
c.11992T>G (p.Trp3998Gly)
2g.73601311T=CA1261033845ALMS1c.11608T= (p.Trp3870=)
c.11167-874T= (n.11167-874T=)
c.4694T=
c.8889T=
c.6055T= (p.Trp2019=)
c.9073T=
c.11989T= (p.Trp3997=)
c.2143T= (p.Trp715=)
c.3345T=
c.1260+430T=
c.3160T=
n.164T=
c.11863T= (p.Trp3955=)
n.5792T=
c.11992T= (p.Trp3998=)
2g.73601311_73601312insCTTATCCACA1261033847ALMS1c.11608_11609insCTTATCCA (p.Trp3870SerfsTer?)
c.11167-874_11167-873insCTTATCCA (n.11167-874_11167-873insCTTATCCA)
c.4694_4695insCTTATCCA
c.8889_8890insCTTATCCA
c.6055_6056insCTTATCCA (p.Trp2019SerfsTer?)
c.9073_9074insCTTATCCA
c.11989_11990insCTTATCCA (p.Trp3997SerfsTer?)
c.2143_2144insCTTATCCA (p.Trp715SerfsTer?)
c.3345_3346insCTTATCCA
c.1260+430_1260+431insCTTATCCA
c.3160_3161insCTTATCCA
n.164_165insCTTATCCA
c.11863_11864insCTTATCCA (p.Trp3955SerfsTer?)
n.5792_5793insCTTATCCA
c.11992_11993insCTTATCCA (p.Trp3998SerfsTer?)
 dbSNP
2g.73601312G>ACA347266218ALMS1c.11609G>A (p.Trp3870Ter)
c.11167-873G>A (n.11167-873G>A)
c.4695G>A
c.8890G>A
c.6056G>A (p.Trp2019Ter)
c.9074G>A
c.11990G>A (p.Trp3997Ter)
c.2144G>A (p.Trp715Ter)
c.3346G>A
c.1260+431G>A
c.3161G>A
n.165G>A
c.11864G>A (p.Trp3955Ter)
n.5793G>A
c.11993G>A (p.Trp3998Ter)
2g.73601312G>CCA347266222ALMS1c.11609G>C (p.Trp3870Ser)
c.11167-873G>C (n.11167-873G>C)
c.4695G>C
c.8890G>C
c.6056G>C (p.Trp2019Ser)
c.9074G>C
c.11990G>C (p.Trp3997Ser)
c.2144G>C (p.Trp715Ser)
c.3346G>C
c.1260+431G>C
c.3161G>C
n.165G>C
c.11864G>C (p.Trp3955Ser)
n.5793G>C
c.11993G>C (p.Trp3998Ser)
2g.73601312G>TCA347266226ALMS1c.11609G>T (p.Trp3870Leu)
c.11167-873G>T (n.11167-873G>T)
c.4695G>T
c.8890G>T
c.6056G>T (p.Trp2019Leu)
c.9074G>T
c.11990G>T (p.Trp3997Leu)
c.2144G>T (p.Trp715Leu)
c.3346G>T
c.1260+431G>T
c.3161G>T
n.165G>T
c.11864G>T (p.Trp3955Leu)
n.5793G>T
c.11993G>T (p.Trp3998Leu)
2g.73601313G>ACA347266231ALMS1c.11610G>A (p.Trp3870Ter)
c.11167-872G>A (n.11167-872G>A)
c.4696G>A
c.8891G>A
c.6057G>A (p.Trp2019Ter)
c.9075G>A
c.11991G>A (p.Trp3997Ter)
c.2145G>A (p.Trp715Ter)
c.3347G>A
c.1260+432G>A
c.3162G>A
n.166G>A
c.11865G>A (p.Trp3955Ter)
n.5794G>A
c.11994G>A (p.Trp3998Ter)
 ClinVar dbSNP
2g.73601313G>CCA347266234ALMS1c.11610G>C (p.Trp3870Cys)
c.11167-872G>C (n.11167-872G>C)
c.4696G>C
c.8891G>C
c.6057G>C (p.Trp2019Cys)
c.9075G>C
c.11991G>C (p.Trp3997Cys)
c.2145G>C (p.Trp715Cys)
c.3347G>C
c.1260+432G>C
c.3162G>C
n.166G>C
c.11865G>C (p.Trp3955Cys)
n.5794G>C
c.11994G>C (p.Trp3998Cys)
2g.73601313G=CA1261033851ALMS1c.11610G= (p.Trp3870=)
c.11167-872G= (n.11167-872G=)
c.4696G=
c.8891G=
c.6057G= (p.Trp2019=)
c.9075G=
c.11991G= (p.Trp3997=)
c.2145G= (p.Trp715=)
c.3347G=
c.1260+432G=
c.3162G=
n.166G=
c.11865G= (p.Trp3955=)
n.5794G=
c.11994G= (p.Trp3998=)
2g.73601313G>TCA347266236ALMS1c.11610G>T (p.Trp3870Cys)
c.11167-872G>T (n.11167-872G>T)
c.4696G>T
c.8891G>T
c.6057G>T (p.Trp2019Cys)
c.9075G>T
c.11991G>T (p.Trp3997Cys)
c.2145G>T (p.Trp715Cys)
c.3347G>T
c.1260+432G>T
c.3162G>T
n.166G>T
c.11865G>T (p.Trp3955Cys)
n.5794G>T
c.11994G>T (p.Trp3998Cys)
2g.73601314A>CCA426783561ALMS1c.11611A>C (p.Arg3871=)
c.11167-871A>C (n.11167-871A>C)
c.4697A>C
c.8892A>C
c.6058A>C (p.Arg2020=)
c.9076A>C
c.11992A>C (p.Arg3998=)
c.2146A>C (p.Arg716=)
c.3348A>C
c.1260+433A>C
c.3163A>C
n.167A>C
c.11866A>C (p.Arg3956=)
n.5795A>C
c.11995A>C (p.Arg3999=)
2g.73601314A>GCA347266241ALMS1c.11611A>G (p.Arg3871Gly)
c.11167-871A>G (n.11167-871A>G)
c.4697A>G
c.8892A>G
c.6058A>G (p.Arg2020Gly)
c.9076A>G
c.11992A>G (p.Arg3998Gly)
c.2146A>G (p.Arg716Gly)
c.3348A>G
c.1260+433A>G
c.3163A>G
n.167A>G
c.11866A>G (p.Arg3956Gly)
n.5795A>G
c.11995A>G (p.Arg3999Gly)
2g.73601314A>TCA347266243ALMS1c.11611A>T (p.Arg3871Trp)
c.11167-871A>T (n.11167-871A>T)
c.4697A>T
c.8892A>T
c.6058A>T (p.Arg2020Trp)
c.9076A>T
c.11992A>T (p.Arg3998Trp)
c.2146A>T (p.Arg716Trp)
c.3348A>T
c.1260+433A>T
c.3163A>T
n.167A>T
c.11866A>T (p.Arg3956Trp)
n.5795A>T
c.11995A>T (p.Arg3999Trp)
2g.73601314_73601315insTATGCATATAATACACA1261033858ALMS1c.11611_11612insTATGCATATAATACA (p.Arg3871IlefsTer4)
c.11167-871_11167-870insTATGCATATAATACA (n.11167-871_11167-870insTATGCATATAATACA)
c.4697_4698insTATGCATATAATACA
c.8892_8893insTATGCATATAATACA
c.6058_6059insTATGCATATAATACA (p.Arg2020IlefsTer4)
c.9076_9077insTATGCATATAATACA
c.11992_11993insTATGCATATAATACA (p.Arg3998IlefsTer4)
c.2146_2147insTATGCATATAATACA (p.Arg716IlefsTer4)
c.3348_3349insTATGCATATAATACA
c.1260+433_1260+434insTATGCATATAATACA
c.3163_3164insTATGCATATAATACA
n.167_168insTATGCATATAATACA
c.11866_11867insTATGCATATAATACA (p.Arg3956IlefsTer4)
n.5795_5796insTATGCATATAATACA
c.11995_11996insTATGCATATAATACA (p.Arg3999IlefsTer4)
 dbSNP
2g.73601315G>ACA347266247ALMS1c.11612G>A (p.Arg3871Lys)
c.11167-870G>A (n.11167-870G>A)
c.4698G>A
c.8893G>A
c.6059G>A (p.Arg2020Lys)
c.9077G>A
c.11993G>A (p.Arg3998Lys)
c.2147G>A (p.Arg716Lys)
c.3349G>A
c.1260+434G>A
c.3164G>A
n.168G>A
c.11867G>A (p.Arg3956Lys)
n.5796G>A
c.11996G>A (p.Arg3999Lys)
2g.73601315G>CCA347266250ALMS1c.11612G>C (p.Arg3871Thr)
c.11167-870G>C (n.11167-870G>C)
c.4698G>C
c.8893G>C
c.6059G>C (p.Arg2020Thr)
c.9077G>C
c.11993G>C (p.Arg3998Thr)
c.2147G>C (p.Arg716Thr)
c.3349G>C
c.1260+434G>C
c.3164G>C
n.168G>C
c.11867G>C (p.Arg3956Thr)
n.5796G>C
c.11996G>C (p.Arg3999Thr)
2g.73601315G>TCA347266254ALMS1c.11612G>T (p.Arg3871Met)
c.11167-870G>T (n.11167-870G>T)
c.4698G>T
c.8893G>T
c.6059G>T (p.Arg2020Met)
c.9077G>T
c.11993G>T (p.Arg3998Met)
c.2147G>T (p.Arg716Met)
c.3349G>T
c.1260+434G>T
c.3164G>T
n.168G>T
c.11867G>T (p.Arg3956Met)
n.5796G>T
c.11996G>T (p.Arg3999Met)
 gnomAD v4
2g.73601317delCA2659621092ALMS1c.11614del (p.Glu3872SerfsTer?)
c.11167-868del (n.11167-868del)
c.4700del
c.8895del
c.6061del (p.Glu2021SerfsTer?)
c.9079del
c.11995del (p.Glu3999SerfsTer?)
c.2149del (p.Glu717SerfsTer?)
c.3351del
c.1260+436del
c.3166del
n.170del
c.11869del (p.Glu3957SerfsTer?)
n.5798del
c.11998del (p.Glu4000SerfsTer?)
 gnomAD v4
2g.73601316G>ACA426783562ALMS1c.11613G>A (p.Arg3871=)
c.11167-869G>A (n.11167-869G>A)
c.4699G>A
c.8894G>A
c.6060G>A (p.Arg2020=)
c.9078G>A
c.11994G>A (p.Arg3998=)
c.2148G>A (p.Arg716=)
c.3350G>A
c.1260+435G>A
c.3165G>A
n.169G>A
c.11868G>A (p.Arg3956=)
n.5797G>A
c.11997G>A (p.Arg3999=)
 ClinVar dbSNP
2g.73601316G>CCA1715397ALMS1c.11613G>C (p.Arg3871Ser)
c.11167-869G>C (n.11167-869G>C)
c.4699G>C
c.8894G>C
c.6060G>C (p.Arg2020Ser)
c.9078G>C
c.11994G>C (p.Arg3998Ser)
c.2148G>C (p.Arg716Ser)
c.3350G>C
c.1260+435G>C
c.3165G>C
n.169G>C
c.11868G>C (p.Arg3956Ser)
n.5797G>C
c.11997G>C (p.Arg3999Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601316G=CA1261033861ALMS1c.11613G= (p.Arg3871=)
c.11167-869G= (n.11167-869G=)
c.4699G=
c.8894G=
c.6060G= (p.Arg2020=)
c.9078G=
c.11994G= (p.Arg3998=)
c.2148G= (p.Arg716=)
c.3350G=
c.1260+435G=
c.3165G=
n.169G=
c.11868G= (p.Arg3956=)
n.5797G=
c.11997G= (p.Arg3999=)
2g.73601316G>TCA347266260ALMS1c.11613G>T (p.Arg3871Ser)
c.11167-869G>T (n.11167-869G>T)
c.4699G>T
c.8894G>T
c.6060G>T (p.Arg2020Ser)
c.9078G>T
c.11994G>T (p.Arg3998Ser)
c.2148G>T (p.Arg716Ser)
c.3350G>T
c.1260+435G>T
c.3165G>T
n.169G>T
c.11868G>T (p.Arg3956Ser)
n.5797G>T
c.11997G>T (p.Arg3999Ser)
2g.73601317G>ACA347266269ALMS1c.11614G>A (p.Glu3872Lys)
c.11167-868G>A (n.11167-868G>A)
c.4700G>A
c.8895G>A
c.6061G>A (p.Glu2021Lys)
c.9079G>A
c.11995G>A (p.Glu3999Lys)
c.2149G>A (p.Glu717Lys)
c.3351G>A
c.1260+436G>A
c.3166G>A
n.170G>A
c.11869G>A (p.Glu3957Lys)
n.5798G>A
c.11998G>A (p.Glu4000Lys)
2g.73601317G>CCA347266272ALMS1c.11614G>C (p.Glu3872Gln)
c.11167-868G>C (n.11167-868G>C)
c.4700G>C
c.8895G>C
c.6061G>C (p.Glu2021Gln)
c.9079G>C
c.11995G>C (p.Glu3999Gln)
c.2149G>C (p.Glu717Gln)
c.3351G>C
c.1260+436G>C
c.3166G>C
n.170G>C
c.11869G>C (p.Glu3957Gln)
n.5798G>C
c.11998G>C (p.Glu4000Gln)
2g.73601317G>TCA347266266ALMS1c.11614G>T (p.Glu3872Ter)
c.11167-868G>T (n.11167-868G>T)
c.4700G>T
c.8895G>T
c.6061G>T (p.Glu2021Ter)
c.9079G>T
c.11995G>T (p.Glu3999Ter)
c.2149G>T (p.Glu717Ter)
c.3351G>T
c.1260+436G>T
c.3166G>T
n.170G>T
c.11869G>T (p.Glu3957Ter)
n.5798G>T
c.11998G>T (p.Glu4000Ter)
2g.73601318A>CCA347266277ALMS1c.11615A>C (p.Glu3872Ala)
c.11167-867A>C (n.11167-867A>C)
c.4701A>C
c.8896A>C
c.6062A>C (p.Glu2021Ala)
c.9080A>C
c.11996A>C (p.Glu3999Ala)
c.2150A>C (p.Glu717Ala)
c.3352A>C
c.1260+437A>C
c.3167A>C
n.171A>C
c.11870A>C (p.Glu3957Ala)
n.5799A>C
c.11999A>C (p.Glu4000Ala)
2g.73601318A>GCA347266281ALMS1c.11615A>G (p.Glu3872Gly)
c.11167-867A>G (n.11167-867A>G)
c.4701A>G
c.8896A>G
c.6062A>G (p.Glu2021Gly)
c.9080A>G
c.11996A>G (p.Glu3999Gly)
c.2150A>G (p.Glu717Gly)
c.3352A>G
c.1260+437A>G
c.3167A>G
n.171A>G
c.11870A>G (p.Glu3957Gly)
n.5799A>G
c.11999A>G (p.Glu4000Gly)
2g.73601318A>TCA347266278ALMS1c.11615A>T (p.Glu3872Val)
c.11167-867A>T (n.11167-867A>T)
c.4701A>T
c.8896A>T
c.6062A>T (p.Glu2021Val)
c.9080A>T
c.11996A>T (p.Glu3999Val)
c.2150A>T (p.Glu717Val)
c.3352A>T
c.1260+437A>T
c.3167A>T
n.171A>T
c.11870A>T (p.Glu3957Val)
n.5799A>T
c.11999A>T (p.Glu4000Val)
2g.73601319G>ACA1715398ALMS1c.11616G>A (p.Glu3872=)
c.11167-866G>A (n.11167-866G>A)
c.4702G>A
c.8897G>A
c.6063G>A (p.Glu2021=)
c.9081G>A
c.11997G>A (p.Glu3999=)
c.2151G>A (p.Glu717=)
c.3353G>A
c.1260+438G>A
c.3168G>A
n.172G>A
c.11871G>A (p.Glu3957=)
n.5800G>A
c.12000G>A (p.Glu4000=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601319G>CCA347266293ALMS1c.11616G>C (p.Glu3872Asp)
c.11167-866G>C (n.11167-866G>C)
c.4702G>C
c.8897G>C
c.6063G>C (p.Glu2021Asp)
c.9081G>C
c.11997G>C (p.Glu3999Asp)
c.2151G>C (p.Glu717Asp)
c.3353G>C
c.1260+438G>C
c.3168G>C
n.172G>C
c.11871G>C (p.Glu3957Asp)
n.5800G>C
c.12000G>C (p.Glu4000Asp)
2g.73601319G=CA1261033866ALMS1c.11616G= (p.Glu3872=)
c.11167-866G= (n.11167-866G=)
c.4702G=
c.8897G=
c.6063G= (p.Glu2021=)
c.9081G=
c.11997G= (p.Glu3999=)
c.2151G= (p.Glu717=)
c.3353G=
c.1260+438G=
c.3168G=
n.172G=
c.11871G= (p.Glu3957=)
n.5800G=
c.12000G= (p.Glu4000=)
2g.73601319G>TCA347266290ALMS1c.11616G>T (p.Glu3872Asp)
c.11167-866G>T (n.11167-866G>T)
c.4702G>T
c.8897G>T
c.6063G>T (p.Glu2021Asp)
c.9081G>T
c.11997G>T (p.Glu3999Asp)
c.2151G>T (p.Glu717Asp)
c.3353G>T
c.1260+438G>T
c.3168G>T
n.172G>T
c.11871G>T (p.Glu3957Asp)
n.5800G>T
c.12000G>T (p.Glu4000Asp)
2g.73601320C>ACA347266297ALMS1c.11617C>A (p.Pro3873Thr)
c.11167-865C>A (n.11167-865C>A)
c.4703C>A
c.8898C>A
c.6064C>A (p.Pro2022Thr)
c.9082C>A
c.11998C>A (p.Pro4000Thr)
c.2152C>A (p.Pro718Thr)
c.3354C>A
c.1260+439C>A
c.3169C>A
n.173C>A
c.11872C>A (p.Pro3958Thr)
n.5801C>A
c.12001C>A (p.Pro4001Thr)
2g.73601320C=CA1261033873ALMS1c.11617C= (p.Pro3873=)
c.11167-865C= (n.11167-865C=)
c.4703C=
c.8898C=
c.6064C= (p.Pro2022=)
c.9082C=
c.11998C= (p.Pro4000=)
c.2152C= (p.Pro718=)
c.3354C=
c.1260+439C=
c.3169C=
n.173C=
c.11872C= (p.Pro3958=)
n.5801C=
c.12001C= (p.Pro4001=)
2g.73601320C>GCA347266305ALMS1c.11617C>G (p.Pro3873Ala)
c.11167-865C>G (n.11167-865C>G)
c.4703C>G
c.8898C>G
c.6064C>G (p.Pro2022Ala)
c.9082C>G
c.11998C>G (p.Pro4000Ala)
c.2152C>G (p.Pro718Ala)
c.3354C>G
c.1260+439C>G
c.3169C>G
n.173C>G
c.11872C>G (p.Pro3958Ala)
n.5801C>G
c.12001C>G (p.Pro4001Ala)
2g.73601320C>TCA1715399ALMS1c.11617C>T (p.Pro3873Ser)
c.11167-865C>T (n.11167-865C>T)
c.4703C>T
c.8898C>T
c.6064C>T (p.Pro2022Ser)
c.9082C>T
c.11998C>T (p.Pro4000Ser)
c.2152C>T (p.Pro718Ser)
c.3354C>T
c.1260+439C>T
c.3169C>T
n.173C>T
c.11872C>T (p.Pro3958Ser)
n.5801C>T
c.12001C>T (p.Pro4001Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601321C>ACA347266309ALMS1c.11618C>A (p.Pro3873Gln)
c.11167-864C>A (n.11167-864C>A)
c.4704C>A
c.8899C>A
c.6065C>A (p.Pro2022Gln)
c.9083C>A
c.11999C>A (p.Pro4000Gln)
c.2153C>A (p.Pro718Gln)
c.3355C>A
c.1260+440C>A
c.3170C>A
n.174C>A
c.11873C>A (p.Pro3958Gln)
n.5802C>A
c.12002C>A (p.Pro4001Gln)
2g.73601321C>GCA347266312ALMS1c.11618C>G (p.Pro3873Arg)
c.11167-864C>G (n.11167-864C>G)
c.4704C>G
c.8899C>G
c.6065C>G (p.Pro2022Arg)
c.9083C>G
c.11999C>G (p.Pro4000Arg)
c.2153C>G (p.Pro718Arg)
c.3355C>G
c.1260+440C>G
c.3170C>G
n.174C>G
c.11873C>G (p.Pro3958Arg)
n.5802C>G
c.12002C>G (p.Pro4001Arg)
2g.73601321C>TCA347266315ALMS1c.11618C>T (p.Pro3873Leu)
c.11167-864C>T (n.11167-864C>T)
c.4704C>T
c.8899C>T
c.6065C>T (p.Pro2022Leu)
c.9083C>T
c.11999C>T (p.Pro4000Leu)
c.2153C>T (p.Pro718Leu)
c.3355C>T
c.1260+440C>T
c.3170C>T
n.174C>T
c.11873C>T (p.Pro3958Leu)
n.5802C>T
c.12002C>T (p.Pro4001Leu)
2g.73601322A>CCA426783563ALMS1c.11619A>C (p.Pro3873=)
c.11167-863A>C (n.11167-863A>C)
c.4705A>C
c.8900A>C
c.6066A>C (p.Pro2022=)
c.9084A>C
c.12000A>C (p.Pro4000=)
c.2154A>C (p.Pro718=)
c.3356A>C
c.1260+441A>C
c.3171A>C
n.175A>C
c.11874A>C (p.Pro3958=)
n.5803A>C
c.12003A>C (p.Pro4001=)
2g.73601322A>GCA426783564ALMS1c.11619A>G (p.Pro3873=)
c.11167-863A>G (n.11167-863A>G)
c.4705A>G
c.8900A>G
c.6066A>G (p.Pro2022=)
c.9084A>G
c.12000A>G (p.Pro4000=)
c.2154A>G (p.Pro718=)
c.3356A>G
c.1260+441A>G
c.3171A>G
n.175A>G
c.11874A>G (p.Pro3958=)
n.5803A>G
c.12003A>G (p.Pro4001=)
 ClinVar dbSNP gnomAD v4
2g.73601322A>TCA426783565ALMS1c.11619A>T (p.Pro3873=)
c.11167-863A>T (n.11167-863A>T)
c.4705A>T
c.8900A>T
c.6066A>T (p.Pro2022=)
c.9084A>T
c.12000A>T (p.Pro4000=)
c.2154A>T (p.Pro718=)
c.3356A>T
c.1260+441A>T
c.3171A>T
n.175A>T
c.11874A>T (p.Pro3958=)
n.5803A>T
c.12003A>T (p.Pro4001=)
2g.73601323C>ACA347266316ALMS1c.11620C>A (p.Leu3874Met)
c.11167-862C>A (n.11167-862C>A)
c.4706C>A
c.8901C>A
c.6067C>A (p.Leu2023Met)
c.9085C>A
c.12001C>A (p.Leu4001Met)
c.2155C>A (p.Leu719Met)
c.3357C>A
c.1260+442C>A
c.3172C>A
n.176C>A
c.11875C>A (p.Leu3959Met)
n.5804C>A
c.12004C>A (p.Leu4002Met)
2g.73601323C>GCA347266322ALMS1c.11620C>G (p.Leu3874Val)
c.11167-862C>G (n.11167-862C>G)
c.4706C>G
c.8901C>G
c.6067C>G (p.Leu2023Val)
c.9085C>G
c.12001C>G (p.Leu4001Val)
c.2155C>G (p.Leu719Val)
c.3357C>G
c.1260+442C>G
c.3172C>G
n.176C>G
c.11875C>G (p.Leu3959Val)
n.5804C>G
c.12004C>G (p.Leu4002Val)
2g.73601323C>TCA426783566ALMS1c.11620C>T (p.Leu3874=)
c.11167-862C>T (n.11167-862C>T)
c.4706C>T
c.8901C>T
c.6067C>T (p.Leu2023=)
c.9085C>T
c.12001C>T (p.Leu4001=)
c.2155C>T (p.Leu719=)
c.3357C>T
c.1260+442C>T
c.3172C>T
n.176C>T
c.11875C>T (p.Leu3959=)
n.5804C>T
c.12004C>T (p.Leu4002=)
2g.73601324T>ACA347266326ALMS1c.11621T>A (p.Leu3874Gln)
c.11167-861T>A (n.11167-861T>A)
c.4707T>A
c.8902T>A
c.6068T>A (p.Leu2023Gln)
c.9086T>A
c.12002T>A (p.Leu4001Gln)
c.2156T>A (p.Leu719Gln)
c.3358T>A
c.1260+443T>A
c.3173T>A
n.177T>A
c.11876T>A (p.Leu3959Gln)
n.5805T>A
c.12005T>A (p.Leu4002Gln)
2g.73601324T>CCA347266329ALMS1c.11621T>C (p.Leu3874Pro)
c.11167-861T>C (n.11167-861T>C)
c.4707T>C
c.8902T>C
c.6068T>C (p.Leu2023Pro)
c.9086T>C
c.12002T>C (p.Leu4001Pro)
c.2156T>C (p.Leu719Pro)
c.3358T>C
c.1260+443T>C
c.3173T>C
n.177T>C
c.11876T>C (p.Leu3959Pro)
n.5805T>C
c.12005T>C (p.Leu4002Pro)
 gnomAD v4
2g.73601324T>GCA347266332ALMS1c.11621T>G (p.Leu3874Arg)
c.11167-861T>G (n.11167-861T>G)
c.4707T>G
c.8902T>G
c.6068T>G (p.Leu2023Arg)
c.9086T>G
c.12002T>G (p.Leu4001Arg)
c.2156T>G (p.Leu719Arg)
c.3358T>G
c.1260+443T>G
c.3173T>G
n.177T>G
c.11876T>G (p.Leu3959Arg)
n.5805T>G
c.12005T>G (p.Leu4002Arg)
2g.73601325G>ACA426783567ALMS1c.11622G>A (p.Leu3874=)
c.11167-860G>A (n.11167-860G>A)
c.4708G>A
c.8903G>A
c.6069G>A (p.Leu2023=)
c.9087G>A
c.12003G>A (p.Leu4001=)
c.2157G>A (p.Leu719=)
c.3359G>A
c.1260+444G>A
c.3174G>A
n.178G>A
c.11877G>A (p.Leu3959=)
n.5806G>A
c.12006G>A (p.Leu4002=)
 gnomAD v4
2g.73601325G>CCA426783568ALMS1c.11622G>C (p.Leu3874=)
c.11167-860G>C (n.11167-860G>C)
c.4708G>C
c.8903G>C
c.6069G>C (p.Leu2023=)
c.9087G>C
c.12003G>C (p.Leu4001=)
c.2157G>C (p.Leu719=)
c.3359G>C
c.1260+444G>C
c.3174G>C
n.178G>C
c.11877G>C (p.Leu3959=)
n.5806G>C
c.12006G>C (p.Leu4002=)
2g.73601325G>TCA426783569ALMS1c.11622G>T (p.Leu3874=)
c.11167-860G>T (n.11167-860G>T)
c.4708G>T
c.8903G>T
c.6069G>T (p.Leu2023=)
c.9087G>T
c.12003G>T (p.Leu4001=)
c.2157G>T (p.Leu719=)
c.3359G>T
c.1260+444G>T
c.3174G>T
n.178G>T
c.11877G>T (p.Leu3959=)
n.5806G>T
c.12006G>T (p.Leu4002=)
2g.73601326C>ACA426783570ALMS1c.11623C>A (p.Arg3875=)
c.11167-859C>A (n.11167-859C>A)
c.4709C>A
c.8904C>A
c.6070C>A (p.Arg2024=)
c.9088C>A
c.12004C>A (p.Arg4002=)
c.2158C>A (p.Arg720=)
c.3360C>A
c.1260+445C>A
c.3175C>A
n.179C>A
c.11878C>A (p.Arg3960=)
n.5807C>A
c.12007C>A (p.Arg4003=)
2g.73601326C=CA1261033885ALMS1c.11623C= (p.Arg3875=)
c.11167-859C= (n.11167-859C=)
c.4709C=
c.8904C=
c.6070C= (p.Arg2024=)
c.9088C=
c.12004C= (p.Arg4002=)
c.2158C= (p.Arg720=)
c.3360C=
c.1260+445C=
c.3175C=
n.179C=
c.11878C= (p.Arg3960=)
n.5807C=
c.12007C= (p.Arg4003=)
2g.73601326C>GCA347266338ALMS1c.11623C>G (p.Arg3875Gly)
c.11167-859C>G (n.11167-859C>G)
c.4709C>G
c.8904C>G
c.6070C>G (p.Arg2024Gly)
c.9088C>G
c.12004C>G (p.Arg4002Gly)
c.2158C>G (p.Arg720Gly)
c.3360C>G
c.1260+445C>G
c.3175C>G
n.179C>G
c.11878C>G (p.Arg3960Gly)
n.5807C>G
c.12007C>G (p.Arg4003Gly)
2g.73601326C>TCA1715400ALMS1c.11623C>T (p.Arg3875Trp)
c.11167-859C>T (n.11167-859C>T)
c.4709C>T
c.8904C>T
c.6070C>T (p.Arg2024Trp)
c.9088C>T
c.12004C>T (p.Arg4002Trp)
c.2158C>T (p.Arg720Trp)
c.3360C>T
c.1260+445C>T
c.3175C>T
n.179C>T
c.11878C>T (p.Arg3960Trp)
n.5807C>T
c.12007C>T (p.Arg4003Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601327G>ACA1715401ALMS1c.11624G>A (p.Arg3875Gln)
c.11167-858G>A (n.11167-858G>A)
c.4710G>A
c.8905G>A
c.6071G>A (p.Arg2024Gln)
c.9089G>A
c.12005G>A (p.Arg4002Gln)
c.2159G>A (p.Arg720Gln)
c.3361G>A
c.1260+446G>A
c.3176G>A
n.180G>A
c.11879G>A (p.Arg3960Gln)
n.5808G>A
c.12008G>A (p.Arg4003Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601327G>CCA347266348ALMS1c.11624G>C (p.Arg3875Pro)
c.11167-858G>C (n.11167-858G>C)
c.4710G>C
c.8905G>C
c.6071G>C (p.Arg2024Pro)
c.9089G>C
c.12005G>C (p.Arg4002Pro)
c.2159G>C (p.Arg720Pro)
c.3361G>C
c.1260+446G>C
c.3176G>C
n.180G>C
c.11879G>C (p.Arg3960Pro)
n.5808G>C
c.12008G>C (p.Arg4003Pro)
 gnomAD v4
2g.73601327G=CA1261033890ALMS1c.11624G= (p.Arg3875=)
c.11167-858G= (n.11167-858G=)
c.4710G=
c.8905G=
c.6071G= (p.Arg2024=)
c.9089G=
c.12005G= (p.Arg4002=)
c.2159G= (p.Arg720=)
c.3361G=
c.1260+446G=
c.3176G=
n.180G=
c.11879G= (p.Arg3960=)
n.5808G=
c.12008G= (p.Arg4003=)
2g.73601327G>TCA347266344ALMS1c.11624G>T (p.Arg3875Leu)
c.11167-858G>T (n.11167-858G>T)
c.4710G>T
c.8905G>T
c.6071G>T (p.Arg2024Leu)
c.9089G>T
c.12005G>T (p.Arg4002Leu)
c.2159G>T (p.Arg720Leu)
c.3361G>T
c.1260+446G>T
c.3176G>T
n.180G>T
c.11879G>T (p.Arg3960Leu)
n.5808G>T
c.12008G>T (p.Arg4003Leu)
2g.73601328G>ACA426783571ALMS1c.11625G>A (p.Arg3875=)
c.11167-857G>A (n.11167-857G>A)
c.4711G>A
c.8906G>A
c.6072G>A (p.Arg2024=)
c.9090G>A
c.12006G>A (p.Arg4002=)
c.2160G>A (p.Arg720=)
c.3362G>A
c.1260+447G>A
c.3177G>A
n.181G>A
c.11880G>A (p.Arg3960=)
n.5809G>A
c.12009G>A (p.Arg4003=)
 ClinVar dbSNP
2g.73601328G>CCA426783572ALMS1c.11625G>C (p.Arg3875=)
c.11167-857G>C (n.11167-857G>C)
c.4711G>C
c.8906G>C
c.6072G>C (p.Arg2024=)
c.9090G>C
c.12006G>C (p.Arg4002=)
c.2160G>C (p.Arg720=)
c.3362G>C
c.1260+447G>C
c.3177G>C
n.181G>C
c.11880G>C (p.Arg3960=)
n.5809G>C
c.12009G>C (p.Arg4003=)
2g.73601328G=CA1261033897ALMS1c.11625G= (p.Arg3875=)
c.11167-857G= (n.11167-857G=)
c.4711G=
c.8906G=
c.6072G= (p.Arg2024=)
c.9090G=
c.12006G= (p.Arg4002=)
c.2160G= (p.Arg720=)
c.3362G=
c.1260+447G=
c.3177G=
n.181G=
c.11880G= (p.Arg3960=)
n.5809G=
c.12009G= (p.Arg4003=)
2g.73601328G>TCA426783573ALMS1c.11625G>T (p.Arg3875=)
c.11167-857G>T (n.11167-857G>T)
c.4711G>T
c.8906G>T
c.6072G>T (p.Arg2024=)
c.9090G>T
c.12006G>T (p.Arg4002=)
c.2160G>T (p.Arg720=)
c.3362G>T
c.1260+447G>T
c.3177G>T
n.181G>T
c.11880G>T (p.Arg3960=)
n.5809G>T
c.12009G>T (p.Arg4003=)
2g.73601329G>ACA1715402ALMS1c.11626G>A (p.Glu3876Lys)
c.11167-856G>A (n.11167-856G>A)
c.4712G>A
c.8907G>A
c.6073G>A (p.Glu2025Lys)
c.9091G>A
c.12007G>A (p.Glu4003Lys)
c.2161G>A (p.Glu721Lys)
c.3363G>A
c.1260+448G>A
c.3178G>A
n.182G>A
c.11881G>A (p.Glu3961Lys)
n.5810G>A
c.12010G>A (p.Glu4004Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601329G>CCA347266360ALMS1c.11626G>C (p.Glu3876Gln)
c.11167-856G>C (n.11167-856G>C)
c.4712G>C
c.8907G>C
c.6073G>C (p.Glu2025Gln)
c.9091G>C
c.12007G>C (p.Glu4003Gln)
c.2161G>C (p.Glu721Gln)
c.3363G>C
c.1260+448G>C
c.3178G>C
n.182G>C
c.11881G>C (p.Glu3961Gln)
n.5810G>C
c.12010G>C (p.Glu4004Gln)
2g.73601329G=CA1261033900ALMS1c.11626G= (p.Glu3876=)
c.11167-856G= (n.11167-856G=)
c.4712G=
c.8907G=
c.6073G= (p.Glu2025=)
c.9091G=
c.12007G= (p.Glu4003=)
c.2161G= (p.Glu721=)
c.3363G=
c.1260+448G=
c.3178G=
n.182G=
c.11881G= (p.Glu3961=)
n.5810G=
c.12010G= (p.Glu4004=)
2g.73601329G>TCA347266362ALMS1c.11626G>T (p.Glu3876Ter)
c.11167-856G>T (n.11167-856G>T)
c.4712G>T
c.8907G>T
c.6073G>T (p.Glu2025Ter)
c.9091G>T
c.12007G>T (p.Glu4003Ter)
c.2161G>T (p.Glu721Ter)
c.3363G>T
c.1260+448G>T
c.3178G>T
n.182G>T
c.11881G>T (p.Glu3961Ter)
n.5810G>T
c.12010G>T (p.Glu4004Ter)
2g.73601330A>CCA347266365ALMS1c.11627A>C (p.Glu3876Ala)
c.11167-855A>C (n.11167-855A>C)
c.4713A>C
c.8908A>C
c.6074A>C (p.Glu2025Ala)
c.9092A>C
c.12008A>C (p.Glu4003Ala)
c.2162A>C (p.Glu721Ala)
c.3364A>C
c.1260+449A>C
c.3179A>C
n.183A>C
c.11882A>C (p.Glu3961Ala)
n.5811A>C
c.12011A>C (p.Glu4004Ala)
2g.73601330A>GCA347266367ALMS1c.11627A>G (p.Glu3876Gly)
c.11167-855A>G (n.11167-855A>G)
c.4713A>G
c.8908A>G
c.6074A>G (p.Glu2025Gly)
c.9092A>G
c.12008A>G (p.Glu4003Gly)
c.2162A>G (p.Glu721Gly)
c.3364A>G
c.1260+449A>G
c.3179A>G
n.183A>G
c.11882A>G (p.Glu3961Gly)
n.5811A>G
c.12011A>G (p.Glu4004Gly)
2g.73601330A>TCA347266371ALMS1c.11627A>T (p.Glu3876Val)
c.11167-855A>T (n.11167-855A>T)
c.4713A>T
c.8908A>T
c.6074A>T (p.Glu2025Val)
c.9092A>T
c.12008A>T (p.Glu4003Val)
c.2162A>T (p.Glu721Val)
c.3364A>T
c.1260+449A>T
c.3179A>T
n.183A>T
c.11882A>T (p.Glu3961Val)
n.5811A>T
c.12011A>T (p.Glu4004Val)
2g.73601332_73601334delCA2659621093ALMS1c.11629_11631del (p.Gln3877del)
c.11167-853_11167-851del (n.11167-853_11167-851del)
c.4715_4717del
c.8910_8912del
c.6076_6078del (p.Gln2026del)
c.9094_9096del
c.12010_12012del (p.Gln4004del)
c.2164_2166del (p.Gln722del)
c.3366_3368del
c.1260+451_1260+453del
c.3181_3183del
n.185_187del
c.11884_11886del (p.Gln3962del)
n.5813_5815del
c.12013_12015del (p.Gln4005del)
 gnomAD v4
2g.73601331G>ACA426783574ALMS1c.11628G>A (p.Glu3876=)
c.11167-854G>A (n.11167-854G>A)
c.4714G>A
c.8909G>A
c.6075G>A (p.Glu2025=)
c.9093G>A
c.12009G>A (p.Glu4003=)
c.2163G>A (p.Glu721=)
c.3365G>A
c.1260+450G>A
c.3180G>A
n.184G>A
c.11883G>A (p.Glu3961=)
n.5812G>A
c.12012G>A (p.Glu4004=)
2g.73601331G>CCA347266373ALMS1c.11628G>C (p.Glu3876Asp)
c.11167-854G>C (n.11167-854G>C)
c.4714G>C
c.8909G>C
c.6075G>C (p.Glu2025Asp)
c.9093G>C
c.12009G>C (p.Glu4003Asp)
c.2163G>C (p.Glu721Asp)
c.3365G>C
c.1260+450G>C
c.3180G>C
n.184G>C
c.11883G>C (p.Glu3961Asp)
n.5812G>C
c.12012G>C (p.Glu4004Asp)
2g.73601331G>TCA347266377ALMS1c.11628G>T (p.Glu3876Asp)
c.11167-854G>T (n.11167-854G>T)
c.4714G>T
c.8909G>T
c.6075G>T (p.Glu2025Asp)
c.9093G>T
c.12009G>T (p.Glu4003Asp)
c.2163G>T (p.Glu721Asp)
c.3365G>T
c.1260+450G>T
c.3180G>T
n.184G>T
c.11883G>T (p.Glu3961Asp)
n.5812G>T
c.12012G>T (p.Glu4004Asp)
2g.73601332C>ACA347266382ALMS1c.11629C>A (p.Gln3877Lys)
c.11167-853C>A (n.11167-853C>A)
c.4715C>A
c.8910C>A
c.6076C>A (p.Gln2026Lys)
c.9094C>A
c.12010C>A (p.Gln4004Lys)
c.2164C>A (p.Gln722Lys)
c.3366C>A
c.1260+451C>A
c.3181C>A
n.185C>A
c.11884C>A (p.Gln3962Lys)
n.5813C>A
c.12013C>A (p.Gln4005Lys)
 gnomAD v4
2g.73601332C>GCA347266384ALMS1c.11629C>G (p.Gln3877Glu)
c.11167-853C>G (n.11167-853C>G)
c.4715C>G
c.8910C>G
c.6076C>G (p.Gln2026Glu)
c.9094C>G
c.12010C>G (p.Gln4004Glu)
c.2164C>G (p.Gln722Glu)
c.3366C>G
c.1260+451C>G
c.3181C>G
n.185C>G
c.11884C>G (p.Gln3962Glu)
n.5813C>G
c.12013C>G (p.Gln4005Glu)
 ClinVar dbSNP
2g.73601332C>TCA347266387ALMS1c.11629C>T (p.Gln3877Ter)
c.11167-853C>T (n.11167-853C>T)
c.4715C>T
c.8910C>T
c.6076C>T (p.Gln2026Ter)
c.9094C>T
c.12010C>T (p.Gln4004Ter)
c.2164C>T (p.Gln722Ter)
c.3366C>T
c.1260+451C>T
c.3181C>T
n.185C>T
c.11884C>T (p.Gln3962Ter)
n.5813C>T
c.12013C>T (p.Gln4005Ter)
2g.73601333A>CCA347266395ALMS1c.11630A>C (p.Gln3877Pro)
c.11167-852A>C (n.11167-852A>C)
c.4716A>C
c.8911A>C
c.6077A>C (p.Gln2026Pro)
c.9095A>C
c.12011A>C (p.Gln4004Pro)
c.2165A>C (p.Gln722Pro)
c.3367A>C
c.1260+452A>C
c.3182A>C
n.186A>C
c.11885A>C (p.Gln3962Pro)
n.5814A>C
c.12014A>C (p.Gln4005Pro)
2g.73601333A>GCA347266392ALMS1c.11630A>G (p.Gln3877Arg)
c.11167-852A>G (n.11167-852A>G)
c.4716A>G
c.8911A>G
c.6077A>G (p.Gln2026Arg)
c.9095A>G
c.12011A>G (p.Gln4004Arg)
c.2165A>G (p.Gln722Arg)
c.3367A>G
c.1260+452A>G
c.3182A>G
n.186A>G
c.11885A>G (p.Gln3962Arg)
n.5814A>G
c.12014A>G (p.Gln4005Arg)
 gnomAD v4
2g.73601333A>TCA347266390ALMS1c.11630A>T (p.Gln3877Leu)
c.11167-852A>T (n.11167-852A>T)
c.4716A>T
c.8911A>T
c.6077A>T (p.Gln2026Leu)
c.9095A>T
c.12011A>T (p.Gln4004Leu)
c.2165A>T (p.Gln722Leu)
c.3367A>T
c.1260+452A>T
c.3182A>T
n.186A>T
c.11885A>T (p.Gln3962Leu)
n.5814A>T
c.12014A>T (p.Gln4005Leu)
2g.73601334G>ACA426783575ALMS1c.11631G>A (p.Gln3877=)
c.11167-851G>A (n.11167-851G>A)
c.4717G>A
c.8912G>A
c.6078G>A (p.Gln2026=)
c.9096G>A
c.12012G>A (p.Gln4004=)
c.2166G>A (p.Gln722=)
c.3368G>A
c.1260+453G>A
c.3183G>A
n.187G>A
c.11886G>A (p.Gln3962=)
n.5815G>A
c.12015G>A (p.Gln4005=)
2g.73601334G>CCA347266405ALMS1c.11631G>C (p.Gln3877His)
c.11167-851G>C (n.11167-851G>C)
c.4717G>C
c.8912G>C
c.6078G>C (p.Gln2026His)
c.9096G>C
c.12012G>C (p.Gln4004His)
c.2166G>C (p.Gln722His)
c.3368G>C
c.1260+453G>C
c.3183G>C
n.187G>C
c.11886G>C (p.Gln3962His)
n.5815G>C
c.12015G>C (p.Gln4005His)
2g.73601334G>TCA347266408ALMS1c.11631G>T (p.Gln3877His)
c.11167-851G>T (n.11167-851G>T)
c.4717G>T
c.8912G>T
c.6078G>T (p.Gln2026His)
c.9096G>T
c.12012G>T (p.Gln4004His)
c.2166G>T (p.Gln722His)
c.3368G>T
c.1260+453G>T
c.3183G>T
n.187G>T
c.11886G>T (p.Gln3962His)
n.5815G>T
c.12015G>T (p.Gln4005His)
 gnomAD v4
2g.73601335A>CCA347266411ALMS1c.11632A>C (p.Asn3878His)
c.11167-850A>C (n.11167-850A>C)
c.4718A>C
c.8913A>C
c.6079A>C (p.Asn2027His)
c.9097A>C
c.12013A>C (p.Asn4005His)
c.2167A>C (p.Asn723His)
c.3369A>C
c.1260+454A>C
c.3184A>C
n.188A>C
c.11887A>C (p.Asn3963His)
n.5816A>C
c.12016A>C (p.Asn4006His)
2g.73601335A>GCA347266413ALMS1c.11632A>G (p.Asn3878Asp)
c.11167-850A>G (n.11167-850A>G)
c.4718A>G
c.8913A>G
c.6079A>G (p.Asn2027Asp)
c.9097A>G
c.12013A>G (p.Asn4005Asp)
c.2167A>G (p.Asn723Asp)
c.3369A>G
c.1260+454A>G
c.3184A>G
n.188A>G
c.11887A>G (p.Asn3963Asp)
n.5816A>G
c.12016A>G (p.Asn4006Asp)
2g.73601335A>TCA347266415ALMS1c.11632A>T (p.Asn3878Tyr)
c.11167-850A>T (n.11167-850A>T)
c.4718A>T
c.8913A>T
c.6079A>T (p.Asn2027Tyr)
c.9097A>T
c.12013A>T (p.Asn4005Tyr)
c.2167A>T (p.Asn723Tyr)
c.3369A>T
c.1260+454A>T
c.3184A>T
n.188A>T
c.11887A>T (p.Asn3963Tyr)
n.5816A>T
c.12016A>T (p.Asn4006Tyr)
2g.73601336A>CCA347266418ALMS1c.11633A>C (p.Asn3878Thr)
c.11167-849A>C (n.11167-849A>C)
c.4719A>C
c.8914A>C
c.6080A>C (p.Asn2027Thr)
c.9098A>C
c.12014A>C (p.Asn4005Thr)
c.2168A>C (p.Asn723Thr)
c.3370A>C
c.1260+455A>C
c.3185A>C
n.189A>C
c.11888A>C (p.Asn3963Thr)
n.5817A>C
c.12017A>C (p.Asn4006Thr)
2g.73601336A>GCA347266421ALMS1c.11633A>G (p.Asn3878Ser)
c.11167-849A>G (n.11167-849A>G)
c.4719A>G
c.8914A>G
c.6080A>G (p.Asn2027Ser)
c.9098A>G
c.12014A>G (p.Asn4005Ser)
c.2168A>G (p.Asn723Ser)
c.3370A>G
c.1260+455A>G
c.3185A>G
n.189A>G
c.11888A>G (p.Asn3963Ser)
n.5817A>G
c.12017A>G (p.Asn4006Ser)
2g.73601336A>TCA347266423ALMS1c.11633A>T (p.Asn3878Ile)
c.11167-849A>T (n.11167-849A>T)
c.4719A>T
c.8914A>T
c.6080A>T (p.Asn2027Ile)
c.9098A>T
c.12014A>T (p.Asn4005Ile)
c.2168A>T (p.Asn723Ile)
c.3370A>T
c.1260+455A>T
c.3185A>T
n.189A>T
c.11888A>T (p.Asn3963Ile)
n.5817A>T
c.12017A>T (p.Asn4006Ile)
2g.73601337C>ACA347266426ALMS1c.11634C>A (p.Asn3878Lys)
c.11167-848C>A (n.11167-848C>A)
c.4720C>A
c.8915C>A
c.6081C>A (p.Asn2027Lys)
c.9099C>A
c.12015C>A (p.Asn4005Lys)
c.2169C>A (p.Asn723Lys)
c.3371C>A
c.1260+456C>A
c.3186C>A
n.190C>A
c.11889C>A (p.Asn3963Lys)
n.5818C>A
c.12018C>A (p.Asn4006Lys)
2g.73601337C>GCA347266430ALMS1c.11634C>G (p.Asn3878Lys)
c.11167-848C>G (n.11167-848C>G)
c.4720C>G
c.8915C>G
c.6081C>G (p.Asn2027Lys)
c.9099C>G
c.12015C>G (p.Asn4005Lys)
c.2169C>G (p.Asn723Lys)
c.3371C>G
c.1260+456C>G
c.3186C>G
n.190C>G
c.11889C>G (p.Asn3963Lys)
n.5818C>G
c.12018C>G (p.Asn4006Lys)
2g.73601337C>TCA426783576ALMS1c.11634C>T (p.Asn3878=)
c.11167-848C>T (n.11167-848C>T)
c.4720C>T
c.8915C>T
c.6081C>T (p.Asn2027=)
c.9099C>T
c.12015C>T (p.Asn4005=)
c.2169C>T (p.Asn723=)
c.3371C>T
c.1260+456C>T
c.3186C>T
n.190C>T
c.11889C>T (p.Asn3963=)
n.5818C>T
c.12018C>T (p.Asn4006=)
2g.73601338T>ACA347266432ALMS1c.11635T>A (p.Cys3879Ser)
c.11167-847T>A (n.11167-847T>A)
c.4721T>A
c.8916T>A
c.6082T>A (p.Cys2028Ser)
c.9100T>A
c.12016T>A (p.Cys4006Ser)
c.2170T>A (p.Cys724Ser)
c.3372T>A
c.1260+457T>A
c.3187T>A
n.191T>A
c.11890T>A (p.Cys3964Ser)
n.5819T>A
c.12019T>A (p.Cys4007Ser)
 gnomAD v4
2g.73601338T>CCA1715403ALMS1c.11635T>C (p.Cys3879Arg)
c.11167-847T>C (n.11167-847T>C)
c.4721T>C
c.8916T>C
c.6082T>C (p.Cys2028Arg)
c.9100T>C
c.12016T>C (p.Cys4006Arg)
c.2170T>C (p.Cys724Arg)
c.3372T>C
c.1260+457T>C
c.3187T>C
n.191T>C
c.11890T>C (p.Cys3964Arg)
n.5819T>C
c.12019T>C (p.Cys4007Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601338T>GCA347266437ALMS1c.11635T>G (p.Cys3879Gly)
c.11167-847T>G (n.11167-847T>G)
c.4721T>G
c.8916T>G
c.6082T>G (p.Cys2028Gly)
c.9100T>G
c.12016T>G (p.Cys4006Gly)
c.2170T>G (p.Cys724Gly)
c.3372T>G
c.1260+457T>G
c.3187T>G
n.191T>G
c.11890T>G (p.Cys3964Gly)
n.5819T>G
c.12019T>G (p.Cys4007Gly)
2g.73601338T=CA1261033904ALMS1c.11635T= (p.Cys3879=)
c.11167-847T= (n.11167-847T=)
c.4721T=
c.8916T=
c.6082T= (p.Cys2028=)
c.9100T=
c.12016T= (p.Cys4006=)
c.2170T= (p.Cys724=)
c.3372T=
c.1260+457T=
c.3187T=
n.191T=
c.11890T= (p.Cys3964=)
n.5819T=
c.12019T= (p.Cys4007=)
2g.73601339G>ACA50337373ALMS1c.11636G>A (p.Cys3879Tyr)
c.11167-846G>A (n.11167-846G>A)
c.4722G>A
c.8917G>A
c.6083G>A (p.Cys2028Tyr)
c.9101G>A
c.12017G>A (p.Cys4006Tyr)
c.2171G>A (p.Cys724Tyr)
c.3373G>A
c.1260+458G>A
c.3188G>A
n.192G>A
c.11891G>A (p.Cys3964Tyr)
n.5820G>A
c.12020G>A (p.Cys4007Tyr)
 dbSNP gnomAD v4
2g.73601339G>CCA347266462ALMS1c.11636G>C (p.Cys3879Ser)
c.11167-846G>C (n.11167-846G>C)
c.4722G>C
c.8917G>C
c.6083G>C (p.Cys2028Ser)
c.9101G>C
c.12017G>C (p.Cys4006Ser)
c.2171G>C (p.Cys724Ser)
c.3373G>C
c.1260+458G>C
c.3188G>C
n.192G>C
c.11891G>C (p.Cys3964Ser)
n.5820G>C
c.12020G>C (p.Cys4007Ser)
 gnomAD v4
2g.73601339G=CA1261033911ALMS1c.11636G= (p.Cys3879=)
c.11167-846G= (n.11167-846G=)
c.4722G=
c.8917G=
c.6083G= (p.Cys2028=)
c.9101G=
c.12017G= (p.Cys4006=)
c.2171G= (p.Cys724=)
c.3373G=
c.1260+458G=
c.3188G=
n.192G=
c.11891G= (p.Cys3964=)
n.5820G=
c.12020G= (p.Cys4007=)
2g.73601339G>TCA347266459ALMS1c.11636G>T (p.Cys3879Phe)
c.11167-846G>T (n.11167-846G>T)
c.4722G>T
c.8917G>T
c.6083G>T (p.Cys2028Phe)
c.9101G>T
c.12017G>T (p.Cys4006Phe)
c.2171G>T (p.Cys724Phe)
c.3373G>T
c.1260+458G>T
c.3188G>T
n.192G>T
c.11891G>T (p.Cys3964Phe)
n.5820G>T
c.12020G>T (p.Cys4007Phe)
2g.73601340T>ACA347266468ALMS1c.11637T>A (p.Cys3879Ter)
c.11167-845T>A (n.11167-845T>A)
c.4723T>A
c.8918T>A
c.6084T>A (p.Cys2028Ter)
c.9102T>A
c.12018T>A (p.Cys4006Ter)
c.2172T>A (p.Cys724Ter)
c.3374T>A
c.1260+459T>A
c.3189T>A
n.193T>A
c.11892T>A (p.Cys3964Ter)
n.5821T>A
c.12021T>A (p.Cys4007Ter)
2g.73601340T>CCA426783577ALMS1c.11637T>C (p.Cys3879=)
c.11167-845T>C (n.11167-845T>C)
c.4723T>C
c.8918T>C
c.6084T>C (p.Cys2028=)
c.9102T>C
c.12018T>C (p.Cys4006=)
c.2172T>C (p.Cys724=)
c.3374T>C
c.1260+459T>C
c.3189T>C
n.193T>C
c.11892T>C (p.Cys3964=)
n.5821T>C
c.12021T>C (p.Cys4007=)
2g.73601340T>GCA347266471ALMS1c.11637T>G (p.Cys3879Trp)
c.11167-845T>G (n.11167-845T>G)
c.4723T>G
c.8918T>G
c.6084T>G (p.Cys2028Trp)
c.9102T>G
c.12018T>G (p.Cys4006Trp)
c.2172T>G (p.Cys724Trp)
c.3374T>G
c.1260+459T>G
c.3189T>G
n.193T>G
c.11892T>G (p.Cys3964Trp)
n.5821T>G
c.12021T>G (p.Cys4007Trp)
2g.73601341C>ACA347266476ALMS1c.11638C>A (p.Gln3880Lys)
c.11167-844C>A (n.11167-844C>A)
c.4724C>A
c.8919C>A
c.6085C>A (p.Gln2029Lys)
c.9103C>A
c.12019C>A (p.Gln4007Lys)
c.2173C>A (p.Gln725Lys)
c.3375C>A
c.1260+460C>A
c.3190C>A
n.194C>A
c.11893C>A (p.Gln3965Lys)
n.5822C>A
c.12022C>A (p.Gln4008Lys)
2g.73601341C>GCA347266479ALMS1c.11638C>G (p.Gln3880Glu)
c.11167-844C>G (n.11167-844C>G)
c.4724C>G
c.8919C>G
c.6085C>G (p.Gln2029Glu)
c.9103C>G
c.12019C>G (p.Gln4007Glu)
c.2173C>G (p.Gln725Glu)
c.3375C>G
c.1260+460C>G
c.3190C>G
n.194C>G
c.11893C>G (p.Gln3965Glu)
n.5822C>G
c.12022C>G (p.Gln4008Glu)
 gnomAD v4
2g.73601341C>TCA347266482ALMS1c.11638C>T (p.Gln3880Ter)
c.11167-844C>T (n.11167-844C>T)
c.4724C>T
c.8919C>T
c.6085C>T (p.Gln2029Ter)
c.9103C>T
c.12019C>T (p.Gln4007Ter)
c.2173C>T (p.Gln725Ter)
c.3375C>T
c.1260+460C>T
c.3190C>T
n.194C>T
c.11893C>T (p.Gln3965Ter)
n.5822C>T
c.12022C>T (p.Gln4008Ter)
2g.73601342delCA2740095645ALMS1c.11639del (p.Gln3880ArgfsTer23)
c.11167-843del (n.11167-843del)
c.4725del
c.8920del
c.6086del (p.Gln2029ArgfsTer23)
c.9104del
c.12020del (p.Gln4007ArgfsTer23)
c.2174del (p.Gln725ArgfsTer23)
c.3376del
c.1260+461del
c.3191del
n.195del
c.11894del (p.Gln3965ArgfsTer23)
n.5823del
c.12023del (p.Gln4008ArgfsTer23)
 ClinVar
2g.73601342A>CCA347266485ALMS1c.11639A>C (p.Gln3880Pro)
c.11167-843A>C (n.11167-843A>C)
c.4725A>C
c.8920A>C
c.6086A>C (p.Gln2029Pro)
c.9104A>C
c.12020A>C (p.Gln4007Pro)
c.2174A>C (p.Gln725Pro)
c.3376A>C
c.1260+461A>C
c.3191A>C
n.195A>C
c.11894A>C (p.Gln3965Pro)
n.5823A>C
c.12023A>C (p.Gln4008Pro)
2g.73601342A>GCA347266488ALMS1c.11639A>G (p.Gln3880Arg)
c.11167-843A>G (n.11167-843A>G)
c.4725A>G
c.8920A>G
c.6086A>G (p.Gln2029Arg)
c.9104A>G
c.12020A>G (p.Gln4007Arg)
c.2174A>G (p.Gln725Arg)
c.3376A>G
c.1260+461A>G
c.3191A>G
n.195A>G
c.11894A>G (p.Gln3965Arg)
n.5823A>G
c.12023A>G (p.Gln4008Arg)
2g.73601342A>TCA347266490ALMS1c.11639A>T (p.Gln3880Leu)
c.11167-843A>T (n.11167-843A>T)
c.4725A>T
c.8920A>T
c.6086A>T (p.Gln2029Leu)
c.9104A>T
c.12020A>T (p.Gln4007Leu)
c.2174A>T (p.Gln725Leu)
c.3376A>T
c.1260+461A>T
c.3191A>T
n.195A>T
c.11894A>T (p.Gln3965Leu)
n.5823A>T
c.12023A>T (p.Gln4008Leu)
2g.73601343G>ACA426783578ALMS1c.11640G>A (p.Gln3880=)
c.11167-842G>A (n.11167-842G>A)
c.4726G>A
c.8921G>A
c.6087G>A (p.Gln2029=)
c.9105G>A
c.12021G>A (p.Gln4007=)
c.2175G>A (p.Gln725=)
c.3377G>A
c.1260+462G>A
c.3192G>A
n.196G>A
c.11895G>A (p.Gln3965=)
n.5824G>A
c.12024G>A (p.Gln4008=)
2g.73601343G>CCA347266493ALMS1c.11640G>C (p.Gln3880His)
c.11167-842G>C (n.11167-842G>C)
c.4726G>C
c.8921G>C
c.6087G>C (p.Gln2029His)
c.9105G>C
c.12021G>C (p.Gln4007His)
c.2175G>C (p.Gln725His)
c.3377G>C
c.1260+462G>C
c.3192G>C
n.196G>C
c.11895G>C (p.Gln3965His)
n.5824G>C
c.12024G>C (p.Gln4008His)
2g.73601343G>TCA347266496ALMS1c.11640G>T (p.Gln3880His)
c.11167-842G>T (n.11167-842G>T)
c.4726G>T
c.8921G>T
c.6087G>T (p.Gln2029His)
c.9105G>T
c.12021G>T (p.Gln4007His)
c.2175G>T (p.Gln725His)
c.3377G>T
c.1260+462G>T
c.3192G>T
n.196G>T
c.11895G>T (p.Gln3965His)
n.5824G>T
c.12024G>T (p.Gln4008His)
2g.73601344G>ACA347266505ALMS1c.11641G>A (p.Gly3881Arg)
c.11167-841G>A (n.11167-841G>A)
c.4727G>A
c.8922G>A
c.6088G>A (p.Gly2030Arg)
c.9106G>A
c.12022G>A (p.Gly4008Arg)
c.2176G>A (p.Gly726Arg)
c.3378G>A
c.1260+463G>A
c.3193G>A
n.197G>A
c.11896G>A (p.Gly3966Arg)
n.5825G>A
c.12025G>A (p.Gly4009Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.73601344G>CCA347266510ALMS1c.11641G>C (p.Gly3881Arg)
c.11167-841G>C (n.11167-841G>C)
c.4727G>C
c.8922G>C
c.6088G>C (p.Gly2030Arg)
c.9106G>C
c.12022G>C (p.Gly4008Arg)
c.2176G>C (p.Gly726Arg)
c.3378G>C
c.1260+463G>C
c.3193G>C
n.197G>C
c.11896G>C (p.Gly3966Arg)
n.5825G>C
c.12025G>C (p.Gly4009Arg)
 ClinVar
2g.73601344G=CA1261033915ALMS1c.11641G= (p.Gly3881=)
c.11167-841G= (n.11167-841G=)
c.4727G=
c.8922G=
c.6088G= (p.Gly2030=)
c.9106G=
c.12022G= (p.Gly4008=)
c.2176G= (p.Gly726=)
c.3378G=
c.1260+463G=
c.3193G=
n.197G=
c.11896G= (p.Gly3966=)
n.5825G=
c.12025G= (p.Gly4009=)
2g.73601344G>TCA347266502ALMS1c.11641G>T (p.Gly3881Trp)
c.11167-841G>T (n.11167-841G>T)
c.4727G>T
c.8922G>T
c.6088G>T (p.Gly2030Trp)
c.9106G>T
c.12022G>T (p.Gly4008Trp)
c.2176G>T (p.Gly726Trp)
c.3378G>T
c.1260+463G>T
c.3193G>T
n.197G>T
c.11896G>T (p.Gly3966Trp)
n.5825G>T
c.12025G>T (p.Gly4009Trp)
2g.73601345G>ACA347266519ALMS1c.11642G>A (p.Gly3881Glu)
c.11167-840G>A (n.11167-840G>A)
c.4728G>A
c.8923G>A
c.6089G>A (p.Gly2030Glu)
c.9107G>A
c.12023G>A (p.Gly4008Glu)
c.2177G>A (p.Gly726Glu)
c.3379G>A
c.1260+464G>A
c.3194G>A
n.198G>A
c.11897G>A (p.Gly3966Glu)
n.5826G>A
c.12026G>A (p.Gly4009Glu)
2g.73601345G>CCA347266515ALMS1c.11642G>C (p.Gly3881Ala)
c.11167-840G>C (n.11167-840G>C)
c.4728G>C
c.8923G>C
c.6089G>C (p.Gly2030Ala)
c.9107G>C
c.12023G>C (p.Gly4008Ala)
c.2177G>C (p.Gly726Ala)
c.3379G>C
c.1260+464G>C
c.3194G>C
n.198G>C
c.11897G>C (p.Gly3966Ala)
n.5826G>C
c.12026G>C (p.Gly4009Ala)
 gnomAD v4
2g.73601345G>TCA347266518ALMS1c.11642G>T (p.Gly3881Val)
c.11167-840G>T (n.11167-840G>T)
c.4728G>T
c.8923G>T
c.6089G>T (p.Gly2030Val)
c.9107G>T
c.12023G>T (p.Gly4008Val)
c.2177G>T (p.Gly726Val)
c.3379G>T
c.1260+464G>T
c.3194G>T
n.198G>T
c.11897G>T (p.Gly3966Val)
n.5826G>T
c.12026G>T (p.Gly4009Val)
2g.73601346G>ACA1715404ALMS1c.11643G>A (p.Gly3881=)
c.11167-839G>A (n.11167-839G>A)
c.4729G>A
c.8924G>A
c.6090G>A (p.Gly2030=)
c.9108G>A
c.12024G>A (p.Gly4008=)
c.2178G>A (p.Gly726=)
c.3380G>A
c.1260+465G>A
c.3195G>A
n.199G>A
c.11898G>A (p.Gly3966=)
n.5827G>A
c.12027G>A (p.Gly4009=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601346G>CCA426783580ALMS1c.11643G>C (p.Gly3881=)
c.11167-839G>C (n.11167-839G>C)
c.4729G>C
c.8924G>C
c.6090G>C (p.Gly2030=)
c.9108G>C
c.12024G>C (p.Gly4008=)
c.2178G>C (p.Gly726=)
c.3380G>C
c.1260+465G>C
c.3195G>C
n.199G>C
c.11898G>C (p.Gly3966=)
n.5827G>C
c.12027G>C (p.Gly4009=)
2g.73601346G=CA1261033917ALMS1c.11643G= (p.Gly3881=)
c.11167-839G= (n.11167-839G=)
c.4729G=
c.8924G=
c.6090G= (p.Gly2030=)
c.9108G=
c.12024G= (p.Gly4008=)
c.2178G= (p.Gly726=)
c.3380G=
c.1260+465G=
c.3195G=
n.199G=
c.11898G= (p.Gly3966=)
n.5827G=
c.12027G= (p.Gly4009=)
2g.73601346G>TCA426783579ALMS1c.11643G>T (p.Gly3881=)
c.11167-839G>T (n.11167-839G>T)
c.4729G>T
c.8924G>T
c.6090G>T (p.Gly2030=)
c.9108G>T
c.12024G>T (p.Gly4008=)
c.2178G>T (p.Gly726=)
c.3380G>T
c.1260+465G>T
c.3195G>T
n.199G>T
c.11898G>T (p.Gly3966=)
n.5827G>T
c.12027G>T (p.Gly4009=)
2g.73601347C>ACA347266529ALMS1c.11644C>A (p.Gln3882Lys)
c.11167-838C>A (n.11167-838C>A)
c.4730C>A
c.8925C>A
c.6091C>A (p.Gln2031Lys)
c.9109C>A
c.12025C>A (p.Gln4009Lys)
c.2179C>A (p.Gln727Lys)
c.3381C>A
c.1260+466C>A
c.3196C>A
n.200C>A
c.11899C>A (p.Gln3967Lys)
n.5828C>A
c.12028C>A (p.Gln4010Lys)
2g.73601347C>GCA347266532ALMS1c.11644C>G (p.Gln3882Glu)
c.11167-838C>G (n.11167-838C>G)
c.4730C>G
c.8925C>G
c.6091C>G (p.Gln2031Glu)
c.9109C>G
c.12025C>G (p.Gln4009Glu)
c.2179C>G (p.Gln727Glu)
c.3381C>G
c.1260+466C>G
c.3196C>G
n.200C>G
c.11899C>G (p.Gln3967Glu)
n.5828C>G
c.12028C>G (p.Gln4010Glu)
2g.73601347C>TCA347266535ALMS1c.11644C>T (p.Gln3882Ter)
c.11167-838C>T (n.11167-838C>T)
c.4730C>T
c.8925C>T
c.6091C>T (p.Gln2031Ter)
c.9109C>T
c.12025C>T (p.Gln4009Ter)
c.2179C>T (p.Gln727Ter)
c.3381C>T
c.1260+466C>T
c.3196C>T
n.200C>T
c.11899C>T (p.Gln3967Ter)
n.5828C>T
c.12028C>T (p.Gln4010Ter)
 dbSNP
2g.73601348A>CCA347266545ALMS1c.11645A>C (p.Gln3882Pro)
c.11167-837A>C (n.11167-837A>C)
c.4731A>C
c.8926A>C
c.6092A>C (p.Gln2031Pro)
c.9110A>C
c.12026A>C (p.Gln4009Pro)
c.2180A>C (p.Gln727Pro)
c.3382A>C
c.1260+467A>C
c.3197A>C
n.201A>C
c.11900A>C (p.Gln3967Pro)
n.5829A>C
c.12029A>C (p.Gln4010Pro)
 dbSNP
2g.73601348A>GCA347266539ALMS1c.11645A>G (p.Gln3882Arg)
c.11167-837A>G (n.11167-837A>G)
c.4731A>G
c.8926A>G
c.6092A>G (p.Gln2031Arg)
c.9110A>G
c.12026A>G (p.Gln4009Arg)
c.2180A>G (p.Gln727Arg)
c.3382A>G
c.1260+467A>G
c.3197A>G
n.201A>G
c.11900A>G (p.Gln3967Arg)
n.5829A>G
c.12029A>G (p.Gln4010Arg)
2g.73601348A>TCA347266542ALMS1c.11645A>T (p.Gln3882Leu)
c.11167-837A>T (n.11167-837A>T)
c.4731A>T
c.8926A>T
c.6092A>T (p.Gln2031Leu)
c.9110A>T
c.12026A>T (p.Gln4009Leu)
c.2180A>T (p.Gln727Leu)
c.3382A>T
c.1260+467A>T
c.3197A>T
n.201A>T
c.11900A>T (p.Gln3967Leu)
n.5829A>T
c.12029A>T (p.Gln4010Leu)
2g.73601349G>ACA426783581ALMS1c.11646G>A (p.Gln3882=)
c.11167-836G>A (n.11167-836G>A)
c.4732G>A
c.8927G>A
c.6093G>A (p.Gln2031=)
c.9111G>A
c.12027G>A (p.Gln4009=)
c.2181G>A (p.Gln727=)
c.3383G>A
c.1260+468G>A
c.3198G>A
n.202G>A
c.11901G>A (p.Gln3967=)
n.5830G>A
c.12030G>A (p.Gln4010=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73601349G>CCA347266549ALMS1c.11646G>C (p.Gln3882His)
c.11167-836G>C (n.11167-836G>C)
c.4732G>C
c.8927G>C
c.6093G>C (p.Gln2031His)
c.9111G>C
c.12027G>C (p.Gln4009His)
c.2181G>C (p.Gln727His)
c.3383G>C
c.1260+468G>C
c.3198G>C
n.202G>C
c.11901G>C (p.Gln3967His)
n.5830G>C
c.12030G>C (p.Gln4010His)
2g.73601349G=CA1261033919ALMS1c.11646G= (p.Gln3882=)
c.11167-836G= (n.11167-836G=)
c.4732G=
c.8927G=
c.6093G= (p.Gln2031=)
c.9111G=
c.12027G= (p.Gln4009=)
c.2181G= (p.Gln727=)
c.3383G=
c.1260+468G=
c.3198G=
n.202G=
c.11901G= (p.Gln3967=)
n.5830G=
c.12030G= (p.Gln4010=)
2g.73601349G>TCA347266552ALMS1c.11646G>T (p.Gln3882His)
c.11167-836G>T (n.11167-836G>T)
c.4732G>T
c.8927G>T
c.6093G>T (p.Gln2031His)
c.9111G>T
c.12027G>T (p.Gln4009His)
c.2181G>T (p.Gln727His)
c.3383G>T
c.1260+468G>T
c.3198G>T
n.202G>T
c.11901G>T (p.Gln3967His)
n.5830G>T
c.12030G>T (p.Gln4010His)
2g.73601350C>ACA347266555ALMS1c.11647C>A (p.His3883Asn)
c.11167-835C>A (n.11167-835C>A)
c.4733C>A
c.8928C>A
c.6094C>A (p.His2032Asn)
c.9112C>A
c.12028C>A (p.His4010Asn)
c.2182C>A (p.His728Asn)
c.3384C>A
c.1260+469C>A
c.3199C>A
n.203C>A
c.11902C>A (p.His3968Asn)
n.5831C>A
c.12031C>A (p.His4011Asn)
2g.73601350C>GCA347266559ALMS1c.11647C>G (p.His3883Asp)
c.11167-835C>G (n.11167-835C>G)
c.4733C>G
c.8928C>G
c.6094C>G (p.His2032Asp)
c.9112C>G
c.12028C>G (p.His4010Asp)
c.2182C>G (p.His728Asp)
c.3384C>G
c.1260+469C>G
c.3199C>G
n.203C>G
c.11902C>G (p.His3968Asp)
n.5831C>G
c.12031C>G (p.His4011Asp)
 gnomAD v4
2g.73601350C>TCA347266561ALMS1c.11647C>T (p.His3883Tyr)
c.11167-835C>T (n.11167-835C>T)
c.4733C>T
c.8928C>T
c.6094C>T (p.His2032Tyr)
c.9112C>T
c.12028C>T (p.His4010Tyr)
c.2182C>T (p.His728Tyr)
c.3384C>T
c.1260+469C>T
c.3199C>T
n.203C>T
c.11902C>T (p.His3968Tyr)
n.5831C>T
c.12031C>T (p.His4011Tyr)
 gnomAD v4
2g.73601351A>CCA347266568ALMS1c.11648A>C (p.His3883Pro)
c.11167-834A>C (n.11167-834A>C)
c.4734A>C
c.8929A>C
c.6095A>C (p.His2032Pro)
c.9113A>C
c.12029A>C (p.His4010Pro)
c.2183A>C (p.His728Pro)
c.3385A>C
c.1260+470A>C
c.3200A>C
n.204A>C
c.11903A>C (p.His3968Pro)
n.5832A>C
c.12032A>C (p.His4011Pro)
2g.73601351A>GCA347266574ALMS1c.11648A>G (p.His3883Arg)
c.11167-834A>G (n.11167-834A>G)
c.4734A>G
c.8929A>G
c.6095A>G (p.His2032Arg)
c.9113A>G
c.12029A>G (p.His4010Arg)
c.2183A>G (p.His728Arg)
c.3385A>G
c.1260+470A>G
c.3200A>G
n.204A>G
c.11903A>G (p.His3968Arg)
n.5832A>G
c.12032A>G (p.His4011Arg)
2g.73601351A>TCA347266570ALMS1c.11648A>T (p.His3883Leu)
c.11167-834A>T (n.11167-834A>T)
c.4734A>T
c.8929A>T
c.6095A>T (p.His2032Leu)
c.9113A>T
c.12029A>T (p.His4010Leu)
c.2183A>T (p.His728Leu)
c.3385A>T
c.1260+470A>T
c.3200A>T
n.204A>T
c.11903A>T (p.His3968Leu)
n.5832A>T
c.12032A>T (p.His4011Leu)
2g.73601352C>ACA347266579ALMS1c.11649C>A (p.His3883Gln)
c.11167-833C>A (n.11167-833C>A)
c.4735C>A
c.8930C>A
c.6096C>A (p.His2032Gln)
c.9114C>A
c.12030C>A (p.His4010Gln)
c.2184C>A (p.His728Gln)
c.3386C>A
c.1260+471C>A
c.3201C>A
n.205C>A
c.11904C>A (p.His3968Gln)
n.5833C>A
c.12033C>A (p.His4011Gln)
2g.73601352C>GCA347266581ALMS1c.11649C>G (p.His3883Gln)
c.11167-833C>G (n.11167-833C>G)
c.4735C>G
c.8930C>G
c.6096C>G (p.His2032Gln)
c.9114C>G
c.12030C>G (p.His4010Gln)
c.2184C>G (p.His728Gln)
c.3386C>G
c.1260+471C>G
c.3201C>G
n.205C>G
c.11904C>G (p.His3968Gln)
n.5833C>G
c.12033C>G (p.His4011Gln)
 ClinVar gnomAD v4
2g.73601352C>TCA426783582ALMS1c.11649C>T (p.His3883=)
c.11167-833C>T (n.11167-833C>T)
c.4735C>T
c.8930C>T
c.6096C>T (p.His2032=)
c.9114C>T
c.12030C>T (p.His4010=)
c.2184C>T (p.His728=)
c.3386C>T
c.1260+471C>T
c.3201C>T
n.205C>T
c.11904C>T (p.His3968=)
n.5833C>T
c.12033C>T (p.His4011=)
 ClinVar
2g.73601353delCA2586969572ALMS1c.11650del (p.Leu3884TrpfsTer19)
c.11167-832del (n.11167-832del)
c.4736del
c.8931del
c.6097del (p.Leu2033TrpfsTer19)
c.9115del
c.12031del (p.Leu4011TrpfsTer19)
c.2185del (p.Leu729TrpfsTer19)
c.3387del
c.1260+472del
c.3202del
n.206del
c.11905del (p.Leu3969TrpfsTer19)
n.5834del
c.12034del (p.Leu4012TrpfsTer19)
2g.73601353C>ACA347266586ALMS1c.11650C>A (p.Leu3884Met)
c.11167-832C>A (n.11167-832C>A)
c.4736C>A
c.8931C>A
c.6097C>A (p.Leu2033Met)
c.9115C>A
c.12031C>A (p.Leu4011Met)
c.2185C>A (p.Leu729Met)
c.3387C>A
c.1260+472C>A
c.3202C>A
n.206C>A
c.11905C>A (p.Leu3969Met)
n.5834C>A
c.12034C>A (p.Leu4012Met)
2g.73601353C=CA1261033922ALMS1c.11650C= (p.Leu3884=)
c.11167-832C= (n.11167-832C=)
c.4736C=
c.8931C=
c.6097C= (p.Leu2033=)
c.9115C=
c.12031C= (p.Leu4011=)
c.2185C= (p.Leu729=)
c.3387C=
c.1260+472C=
c.3202C=
n.206C=
c.11905C= (p.Leu3969=)
n.5834C=
c.12034C= (p.Leu4012=)
2g.73601353C>GCA347266589ALMS1c.11650C>G (p.Leu3884Val)
c.11167-832C>G (n.11167-832C>G)
c.4736C>G
c.8931C>G
c.6097C>G (p.Leu2033Val)
c.9115C>G
c.12031C>G (p.Leu4011Val)
c.2185C>G (p.Leu729Val)
c.3387C>G
c.1260+472C>G
c.3202C>G
n.206C>G
c.11905C>G (p.Leu3969Val)
n.5834C>G
c.12034C>G (p.Leu4012Val)
2g.73601353C>TCA426783583ALMS1c.11650C>T (p.Leu3884=)
c.11167-832C>T (n.11167-832C>T)
c.4736C>T
c.8931C>T
c.6097C>T (p.Leu2033=)
c.9115C>T
c.12031C>T (p.Leu4011=)
c.2185C>T (p.Leu729=)
c.3387C>T
c.1260+472C>T
c.3202C>T
n.206C>T
c.11905C>T (p.Leu3969=)
n.5834C>T
c.12034C>T (p.Leu4012=)
 ClinVar dbSNP gnomAD v4
2g.73601354T>ACA347266593ALMS1c.11651T>A (p.Leu3884Gln)
c.11167-831T>A (n.11167-831T>A)
c.4737T>A
c.8932T>A
c.6098T>A (p.Leu2033Gln)
c.9116T>A
c.12032T>A (p.Leu4011Gln)
c.2186T>A (p.Leu729Gln)
c.3388T>A
c.1260+473T>A
c.3203T>A
n.207T>A
c.11906T>A (p.Leu3969Gln)
n.5835T>A
c.12035T>A (p.Leu4012Gln)
2g.73601354T>CCA347266595ALMS1c.11651T>C (p.Leu3884Pro)
c.11167-831T>C (n.11167-831T>C)
c.4737T>C
c.8932T>C
c.6098T>C (p.Leu2033Pro)
c.9116T>C
c.12032T>C (p.Leu4011Pro)
c.2186T>C (p.Leu729Pro)
c.3388T>C
c.1260+473T>C
c.3203T>C
n.207T>C
c.11906T>C (p.Leu3969Pro)
n.5835T>C
c.12035T>C (p.Leu4012Pro)
 gnomAD v4
2g.73601354T>GCA347266598ALMS1c.11651T>G (p.Leu3884Arg)
c.11167-831T>G (n.11167-831T>G)
c.4737T>G
c.8932T>G
c.6098T>G (p.Leu2033Arg)
c.9116T>G
c.12032T>G (p.Leu4011Arg)
c.2186T>G (p.Leu729Arg)
c.3388T>G
c.1260+473T>G
c.3203T>G
n.207T>G
c.11906T>G (p.Leu3969Arg)
n.5835T>G
c.12035T>G (p.Leu4012Arg)
2g.73601355G>ACA426783584ALMS1c.11652G>A (p.Leu3884=)
c.11167-830G>A (n.11167-830G>A)
c.4738G>A
c.8933G>A
c.6099G>A (p.Leu2033=)
c.9117G>A
c.12033G>A (p.Leu4011=)
c.2187G>A (p.Leu729=)
c.3389G>A
c.1260+474G>A
c.3204G>A
n.208G>A
c.11907G>A (p.Leu3969=)
n.5836G>A
c.12036G>A (p.Leu4012=)
2g.73601355G>CCA426783585ALMS1c.11652G>C (p.Leu3884=)
c.11167-830G>C (n.11167-830G>C)
c.4738G>C
c.8933G>C
c.6099G>C (p.Leu2033=)
c.9117G>C
c.12033G>C (p.Leu4011=)
c.2187G>C (p.Leu729=)
c.3389G>C
c.1260+474G>C
c.3204G>C
n.208G>C
c.11907G>C (p.Leu3969=)
n.5836G>C
c.12036G>C (p.Leu4012=)
2g.73601355G>TCA426783586ALMS1c.11652G>T (p.Leu3884=)
c.11167-830G>T (n.11167-830G>T)
c.4738G>T
c.8933G>T
c.6099G>T (p.Leu2033=)
c.9117G>T
c.12033G>T (p.Leu4011=)
c.2187G>T (p.Leu729=)
c.3389G>T
c.1260+474G>T
c.3204G>T
n.208G>T
c.11907G>T (p.Leu3969=)
n.5836G>T
c.12036G>T (p.Leu4012=)
2g.73601356G>ACA347266603ALMS1c.11653G>A (p.Asp3885Asn)
c.11167-829G>A (n.11167-829G>A)
c.4739G>A
c.8934G>A
c.6100G>A (p.Asp2034Asn)
c.9118G>A
c.12034G>A (p.Asp4012Asn)
c.2188G>A (p.Asp730Asn)
c.3390G>A
c.1260+475G>A
c.3205G>A
n.209G>A
c.11908G>A (p.Asp3970Asn)
n.5837G>A
c.12037G>A (p.Asp4013Asn)
2g.73601356G>CCA347266607ALMS1c.11653G>C (p.Asp3885His)
c.11167-829G>C (n.11167-829G>C)
c.4739G>C
c.8934G>C
c.6100G>C (p.Asp2034His)
c.9118G>C
c.12034G>C (p.Asp4012His)
c.2188G>C (p.Asp730His)
c.3390G>C
c.1260+475G>C
c.3205G>C
n.209G>C
c.11908G>C (p.Asp3970His)
n.5837G>C
c.12037G>C (p.Asp4013His)
2g.73601356G>TCA347266611ALMS1c.11653G>T (p.Asp3885Tyr)
c.11167-829G>T (n.11167-829G>T)
c.4739G>T
c.8934G>T
c.6100G>T (p.Asp2034Tyr)
c.9118G>T
c.12034G>T (p.Asp4012Tyr)
c.2188G>T (p.Asp730Tyr)
c.3390G>T
c.1260+475G>T
c.3205G>T
n.209G>T
c.11908G>T (p.Asp3970Tyr)
n.5837G>T
c.12037G>T (p.Asp4013Tyr)
2g.73601357A>CCA347266621ALMS1c.11654A>C (p.Asp3885Ala)
c.11167-828A>C (n.11167-828A>C)
c.4740A>C
c.8935A>C
c.6101A>C (p.Asp2034Ala)
c.9119A>C
c.12035A>C (p.Asp4012Ala)
c.2189A>C (p.Asp730Ala)
c.3391A>C
c.1260+476A>C
c.3206A>C
n.210A>C
c.11909A>C (p.Asp3970Ala)
n.5838A>C
c.12038A>C (p.Asp4013Ala)
2g.73601357A>GCA347266617ALMS1c.11654A>G (p.Asp3885Gly)
c.11167-828A>G (n.11167-828A>G)
c.4740A>G
c.8935A>G
c.6101A>G (p.Asp2034Gly)
c.9119A>G
c.12035A>G (p.Asp4012Gly)
c.2189A>G (p.Asp730Gly)
c.3391A>G
c.1260+476A>G
c.3206A>G
n.210A>G
c.11909A>G (p.Asp3970Gly)
n.5838A>G
c.12038A>G (p.Asp4013Gly)
2g.73601357A>TCA347266614ALMS1c.11654A>T (p.Asp3885Val)
c.11167-828A>T (n.11167-828A>T)
c.4740A>T
c.8935A>T
c.6101A>T (p.Asp2034Val)
c.9119A>T
c.12035A>T (p.Asp4012Val)
c.2189A>T (p.Asp730Val)
c.3391A>T
c.1260+476A>T
c.3206A>T
n.210A>T
c.11909A>T (p.Asp3970Val)
n.5838A>T
c.12038A>T (p.Asp4013Val)
2g.73601358C>ACA1715406ALMS1c.11655C>A (p.Asp3885Glu)
c.11167-827C>A (n.11167-827C>A)
c.4741C>A
c.8936C>A
c.6102C>A (p.Asp2034Glu)
c.9120C>A
c.12036C>A (p.Asp4012Glu)
c.2190C>A (p.Asp730Glu)
c.3392C>A
c.1260+477C>A
c.3207C>A
n.211C>A
c.11910C>A (p.Asp3970Glu)
n.5839C>A
c.12039C>A (p.Asp4013Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601358C=CA1261033931ALMS1c.11655C= (p.Asp3885=)
c.11167-827C= (n.11167-827C=)
c.4741C=
c.8936C=
c.6102C= (p.Asp2034=)
c.9120C=
c.12036C= (p.Asp4012=)
c.2190C= (p.Asp730=)
c.3392C=
c.1260+477C=
c.3207C=
n.211C=
c.11910C= (p.Asp3970=)
n.5839C=
c.12039C= (p.Asp4013=)
2g.73601358C>GCA347266637ALMS1c.11655C>G (p.Asp3885Glu)
c.11167-827C>G (n.11167-827C>G)
c.4741C>G
c.8936C>G
c.6102C>G (p.Asp2034Glu)
c.9120C>G
c.12036C>G (p.Asp4012Glu)
c.2190C>G (p.Asp730Glu)
c.3392C>G
c.1260+477C>G
c.3207C>G
n.211C>G
c.11910C>G (p.Asp3970Glu)
n.5839C>G
c.12039C>G (p.Asp4013Glu)
 gnomAD v4
2g.73601358C>TCA1715405ALMS1c.11655C>T (p.Asp3885=)
c.11167-827C>T (n.11167-827C>T)
c.4741C>T
c.8936C>T
c.6102C>T (p.Asp2034=)
c.9120C>T
c.12036C>T (p.Asp4012=)
c.2190C>T (p.Asp730=)
c.3392C>T
c.1260+477C>T
c.3207C>T
n.211C>T
c.11910C>T (p.Asp3970=)
n.5839C>T
c.12039C>T (p.Asp4013=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601359G>ACA1715407ALMS1c.11656G>A (p.Gly3886Ser)
c.11167-826G>A (n.11167-826G>A)
c.4742G>A
c.8937G>A
c.6103G>A (p.Gly2035Ser)
c.9121G>A
c.12037G>A (p.Gly4013Ser)
c.2191G>A (p.Gly731Ser)
c.3393G>A
c.1260+478G>A
c.3208G>A
n.212G>A
c.11911G>A (p.Gly3971Ser)
n.5840G>A
c.12040G>A (p.Gly4014Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601359G>CCA347266649ALMS1c.11656G>C (p.Gly3886Arg)
c.11167-826G>C (n.11167-826G>C)
c.4742G>C
c.8937G>C
c.6103G>C (p.Gly2035Arg)
c.9121G>C
c.12037G>C (p.Gly4013Arg)
c.2191G>C (p.Gly731Arg)
c.3393G>C
c.1260+478G>C
c.3208G>C
n.212G>C
c.11911G>C (p.Gly3971Arg)
n.5840G>C
c.12040G>C (p.Gly4014Arg)
2g.73601359G=CA1261033936ALMS1c.11656G= (p.Gly3886=)
c.11167-826G= (n.11167-826G=)
c.4742G=
c.8937G=
c.6103G= (p.Gly2035=)
c.9121G=
c.12037G= (p.Gly4013=)
c.2191G= (p.Gly731=)
c.3393G=
c.1260+478G=
c.3208G=
n.212G=
c.11911G= (p.Gly3971=)
n.5840G=
c.12040G= (p.Gly4014=)
2g.73601359G>TCA347266654ALMS1c.11656G>T (p.Gly3886Cys)
c.11167-826G>T (n.11167-826G>T)
c.4742G>T
c.8937G>T
c.6103G>T (p.Gly2035Cys)
c.9121G>T
c.12037G>T (p.Gly4013Cys)
c.2191G>T (p.Gly731Cys)
c.3393G>T
c.1260+478G>T
c.3208G>T
n.212G>T
c.11911G>T (p.Gly3971Cys)
n.5840G>T
c.12040G>T (p.Gly4014Cys)
2g.73601360G>ACA1715408ALMS1c.11657G>A (p.Gly3886Asp)
c.11167-825G>A (n.11167-825G>A)
c.4743G>A
c.8938G>A
c.6104G>A (p.Gly2035Asp)
c.9122G>A
c.12038G>A (p.Gly4013Asp)
c.2192G>A (p.Gly731Asp)
c.3394G>A
c.1260+479G>A
c.3209G>A
n.213G>A
c.11912G>A (p.Gly3971Asp)
n.5841G>A
c.12041G>A (p.Gly4014Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601360G>CCA347266658ALMS1c.11657G>C (p.Gly3886Ala)
c.11167-825G>C (n.11167-825G>C)
c.4743G>C
c.8938G>C
c.6104G>C (p.Gly2035Ala)
c.9122G>C
c.12038G>C (p.Gly4013Ala)
c.2192G>C (p.Gly731Ala)
c.3394G>C
c.1260+479G>C
c.3209G>C
n.213G>C
c.11912G>C (p.Gly3971Ala)
n.5841G>C
c.12041G>C (p.Gly4014Ala)
2g.73601360G=CA1261033941ALMS1c.11657G= (p.Gly3886=)
c.11167-825G= (n.11167-825G=)
c.4743G=
c.8938G=
c.6104G= (p.Gly2035=)
c.9122G=
c.12038G= (p.Gly4013=)
c.2192G= (p.Gly731=)
c.3394G=
c.1260+479G=
c.3209G=
n.213G=
c.11912G= (p.Gly3971=)
n.5841G=
c.12041G= (p.Gly4014=)
2g.73601360G>TCA347266659ALMS1c.11657G>T (p.Gly3886Val)
c.11167-825G>T (n.11167-825G>T)
c.4743G>T
c.8938G>T
c.6104G>T (p.Gly2035Val)
c.9122G>T
c.12038G>T (p.Gly4013Val)
c.2192G>T (p.Gly731Val)
c.3394G>T
c.1260+479G>T
c.3209G>T
n.213G>T
c.11912G>T (p.Gly3971Val)
n.5841G>T
c.12041G>T (p.Gly4014Val)
2g.73601361delCA2577005281ALMS1c.11658del (p.Arg3887GlyfsTer16)
c.11167-824del (n.11167-824del)
c.4744del
c.8939del
c.6105del (p.Arg2036GlyfsTer16)
c.9123del
c.12039del (p.Arg4014GlyfsTer16)
c.2193del (p.Arg732GlyfsTer16)
c.3395del
c.1260+480del
c.3210del
n.214del
c.11913del (p.Arg3972GlyfsTer16)
n.5842del
c.12042del (p.Arg4015GlyfsTer16)
2g.73601361T>ACA426783589ALMS1c.11658T>A (p.Gly3886=)
c.11167-824T>A (n.11167-824T>A)
c.4744T>A
c.8939T>A
c.6105T>A (p.Gly2035=)
c.9123T>A
c.12039T>A (p.Gly4013=)
c.2193T>A (p.Gly731=)
c.3395T>A
c.1260+480T>A
c.3210T>A
n.214T>A
c.11913T>A (p.Gly3971=)
n.5842T>A
c.12042T>A (p.Gly4014=)
2g.73601361T>CCA426783587ALMS1c.11658T>C (p.Gly3886=)
c.11167-824T>C (n.11167-824T>C)
c.4744T>C
c.8939T>C
c.6105T>C (p.Gly2035=)
c.9123T>C
c.12039T>C (p.Gly4013=)
c.2193T>C (p.Gly731=)
c.3395T>C
c.1260+480T>C
c.3210T>C
n.214T>C
c.11913T>C (p.Gly3971=)
n.5842T>C
c.12042T>C (p.Gly4014=)
2g.73601361T>GCA426783588ALMS1c.11658T>G (p.Gly3886=)
c.11167-824T>G (n.11167-824T>G)
c.4744T>G
c.8939T>G
c.6105T>G (p.Gly2035=)
c.9123T>G
c.12039T>G (p.Gly4013=)
c.2193T>G (p.Gly731=)
c.3395T>G
c.1260+480T>G
c.3210T>G
n.214T>G
c.11913T>G (p.Gly3971=)
n.5842T>G
c.12042T>G (p.Gly4014=)
 dbSNP
2g.73601361T=CA1261033945ALMS1c.11658T= (p.Gly3886=)
c.11167-824T= (n.11167-824T=)
c.4744T=
c.8939T=
c.6105T= (p.Gly2035=)
c.9123T=
c.12039T= (p.Gly4013=)
c.2193T= (p.Gly731=)
c.3395T=
c.1260+480T=
c.3210T=
n.214T=
c.11913T= (p.Gly3971=)
n.5842T=
c.12042T= (p.Gly4014=)
2g.73601362C>ACA426783590ALMS1c.11659C>A (p.Arg3887=)
c.11167-823C>A (n.11167-823C>A)
c.4745C>A
c.8940C>A
c.6106C>A (p.Arg2036=)
c.9124C>A
c.12040C>A (p.Arg4014=)
c.2194C>A (p.Arg732=)
c.3396C>A
c.1260+481C>A
c.3211C>A
n.215C>A
c.11914C>A (p.Arg3972=)
n.5843C>A
c.12043C>A (p.Arg4015=)
 gnomAD v4
2g.73601362C=CA1261033949ALMS1c.11659C= (p.Arg3887=)
c.11167-823C= (n.11167-823C=)
c.4745C=
c.8940C=
c.6106C= (p.Arg2036=)
c.9124C=
c.12040C= (p.Arg4014=)
c.2194C= (p.Arg732=)
c.3396C=
c.1260+481C=
c.3211C=
n.215C=
c.11914C= (p.Arg3972=)
n.5843C=
c.12043C= (p.Arg4015=)
2g.73601362C>GCA347266661ALMS1c.11659C>G (p.Arg3887Gly)
c.11167-823C>G (n.11167-823C>G)
c.4745C>G
c.8940C>G
c.6106C>G (p.Arg2036Gly)
c.9124C>G
c.12040C>G (p.Arg4014Gly)
c.2194C>G (p.Arg732Gly)
c.3396C>G
c.1260+481C>G
c.3211C>G
n.215C>G
c.11914C>G (p.Arg3972Gly)
n.5843C>G
c.12043C>G (p.Arg4015Gly)
2g.73601362C>TCA1715409ALMS1c.11659C>T (p.Arg3887Trp)
c.11167-823C>T (n.11167-823C>T)
c.4745C>T
c.8940C>T
c.6106C>T (p.Arg2036Trp)
c.9124C>T
c.12040C>T (p.Arg4014Trp)
c.2194C>T (p.Arg732Trp)
c.3396C>T
c.1260+481C>T
c.3211C>T
n.215C>T
c.11914C>T (p.Arg3972Trp)
n.5843C>T
c.12043C>T (p.Arg4015Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601362_73601363delCA2580068177ALMS1c.11659_11660del (p.Arg3887GlyfsTer?)
c.11167-823_11167-822del (n.11167-823_11167-822del)
c.4745_4746del
c.8940_8941del
c.6106_6107del (p.Arg2036GlyfsTer?)
c.9124_9125del
c.12040_12041del (p.Arg4014GlyfsTer?)
c.2194_2195del (p.Arg732GlyfsTer?)
c.3396_3397del
c.1260+481_1260+482del
c.3211_3212del
n.215_216del
c.11914_11915del (p.Arg3972GlyfsTer?)
n.5843_5844del
c.12043_12044del (p.Arg4015GlyfsTer?)
 ClinVar
2g.73601362_73601363delinsCGCA1261033948ALMS1c.11659_11660delinsCG (p.Arg3887=)
c.11167-823_11167-822delinsCG (n.11167-823_11167-822delinsCG)
c.4745_4746delinsCG
c.8940_8941delinsCG
c.6106_6107delinsCG (p.Arg2036=)
c.9124_9125delinsCG
c.12040_12041delinsCG (p.Arg4014=)
c.2194_2195delinsCG (p.Arg732=)
c.3396_3397delinsCG
c.1260+481_1260+482delinsCG
c.3211_3212delinsCG
n.215_216delinsCG
c.11914_11915delinsCG (p.Arg3972=)
n.5843_5844delinsCG
c.12043_12044delinsCG (p.Arg4015=)

Number of alleles fetched