Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched