Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73601211T>ACA426783483ALMS1c.11508T>A (p.Val3836=)
c.11167-974T>A (n.11167-974T>A)
c.4594T>A
c.8789T>A
c.5955T>A (p.Val1985=)
c.8973T>A
c.11889T>A (p.Val3963=)
c.2043T>A (p.Val681=)
c.3245T>A
c.1260+330T>A
c.3060T>A
n.64T>A
c.11763T>A (p.Val3921=)
n.5692T>A
c.11892T>A (p.Val3964=)
2g.73601211T>CCA426783484ALMS1c.11508T>C (p.Val3836=)
c.11167-974T>C (n.11167-974T>C)
c.4594T>C
c.8789T>C
c.5955T>C (p.Val1985=)
c.8973T>C
c.11889T>C (p.Val3963=)
c.2043T>C (p.Val681=)
c.3245T>C
c.1260+330T>C
c.3060T>C
n.64T>C
c.11763T>C (p.Val3921=)
n.5692T>C
c.11892T>C (p.Val3964=)
2g.73601211T>GCA426783485ALMS1c.11508T>G (p.Val3836=)
c.11167-974T>G (n.11167-974T>G)
c.4594T>G
c.8789T>G
c.5955T>G (p.Val1985=)
c.8973T>G
c.11889T>G (p.Val3963=)
c.2043T>G (p.Val681=)
c.3245T>G
c.1260+330T>G
c.3060T>G
n.64T>G
c.11763T>G (p.Val3921=)
n.5692T>G
c.11892T>G (p.Val3964=)
 ClinVar
2g.73601212C>ACA347265459ALMS1c.11509C>A (p.Pro3837Thr)
c.11167-973C>A (n.11167-973C>A)
c.4595C>A
c.8790C>A
c.5956C>A (p.Pro1986Thr)
c.8974C>A
c.11890C>A (p.Pro3964Thr)
c.2044C>A (p.Pro682Thr)
c.3246C>A
c.1260+331C>A
c.3061C>A
n.65C>A
c.11764C>A (p.Pro3922Thr)
n.5693C>A
c.11893C>A (p.Pro3965Thr)
 gnomAD v4
2g.73601212C=CA1261033656ALMS1c.11509C= (p.Pro3837=)
c.11167-973C= (n.11167-973C=)
c.4595C=
c.8790C=
c.5956C= (p.Pro1986=)
c.8974C=
c.11890C= (p.Pro3964=)
c.2044C= (p.Pro682=)
c.3246C=
c.1260+331C=
c.3061C=
n.65C=
c.11764C= (p.Pro3922=)
n.5693C=
c.11893C= (p.Pro3965=)
2g.73601212C>GCA347265464ALMS1c.11509C>G (p.Pro3837Ala)
c.11167-973C>G (n.11167-973C>G)
c.4595C>G
c.8790C>G
c.5956C>G (p.Pro1986Ala)
c.8974C>G
c.11890C>G (p.Pro3964Ala)
c.2044C>G (p.Pro682Ala)
c.3246C>G
c.1260+331C>G
c.3061C>G
n.65C>G
c.11764C>G (p.Pro3922Ala)
n.5693C>G
c.11893C>G (p.Pro3965Ala)
2g.73601212C>TCA1715371ALMS1c.11509C>T (p.Pro3837Ser)
c.11167-973C>T (n.11167-973C>T)
c.4595C>T
c.8790C>T
c.5956C>T (p.Pro1986Ser)
c.8974C>T
c.11890C>T (p.Pro3964Ser)
c.2044C>T (p.Pro682Ser)
c.3246C>T
c.1260+331C>T
c.3061C>T
n.65C>T
c.11764C>T (p.Pro3922Ser)
n.5693C>T
c.11893C>T (p.Pro3965Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601213delCA2659621090ALMS1c.11510del (p.Pro3837LeufsTer28)
c.11167-972del (n.11167-972del)
c.4596del
c.8791del
c.5957del (p.Pro1986LeufsTer28)
c.8975del
c.11891del (p.Pro3964LeufsTer28)
c.2045del (p.Pro682LeufsTer28)
c.3247del
c.1260+332del
c.3062del
n.66del
c.11765del (p.Pro3922LeufsTer28)
n.5694del
c.11894del (p.Pro3965LeufsTer28)
 gnomAD v4
2g.73601213C>ACA347265467ALMS1c.11510C>A (p.Pro3837His)
c.11167-972C>A (n.11167-972C>A)
c.4596C>A
c.8791C>A
c.5957C>A (p.Pro1986His)
c.8975C>A
c.11891C>A (p.Pro3964His)
c.2045C>A (p.Pro682His)
c.3247C>A
c.1260+332C>A
c.3062C>A
n.66C>A
c.11765C>A (p.Pro3922His)
n.5694C>A
c.11894C>A (p.Pro3965His)
2g.73601213C=CA1261033659ALMS1c.11510C= (p.Pro3837=)
c.11167-972C= (n.11167-972C=)
c.4596C=
c.8791C=
c.5957C= (p.Pro1986=)
c.8975C=
c.11891C= (p.Pro3964=)
c.2045C= (p.Pro682=)
c.3247C=
c.1260+332C=
c.3062C=
n.66C=
c.11765C= (p.Pro3922=)
n.5694C=
c.11894C= (p.Pro3965=)
2g.73601213C>GCA347265470ALMS1c.11510C>G (p.Pro3837Arg)
c.11167-972C>G (n.11167-972C>G)
c.4596C>G
c.8791C>G
c.5957C>G (p.Pro1986Arg)
c.8975C>G
c.11891C>G (p.Pro3964Arg)
c.2045C>G (p.Pro682Arg)
c.3247C>G
c.1260+332C>G
c.3062C>G
n.66C>G
c.11765C>G (p.Pro3922Arg)
n.5694C>G
c.11894C>G (p.Pro3965Arg)
2g.73601213C>TCA347265469ALMS1c.11510C>T (p.Pro3837Leu)
c.11167-972C>T (n.11167-972C>T)
c.4596C>T
c.8791C>T
c.5957C>T (p.Pro1986Leu)
c.8975C>T
c.11891C>T (p.Pro3964Leu)
c.2045C>T (p.Pro682Leu)
c.3247C>T
c.1260+332C>T
c.3062C>T
n.66C>T
c.11765C>T (p.Pro3922Leu)
n.5694C>T
c.11894C>T (p.Pro3965Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73601214T>ACA426783487ALMS1c.11511T>A (p.Pro3837=)
c.11167-971T>A (n.11167-971T>A)
c.4597T>A
c.8792T>A
c.5958T>A (p.Pro1986=)
c.8976T>A
c.11892T>A (p.Pro3964=)
c.2046T>A (p.Pro682=)
c.3248T>A
c.1260+333T>A
c.3063T>A
n.67T>A
c.11766T>A (p.Pro3922=)
n.5695T>A
c.11895T>A (p.Pro3965=)
 dbSNP
2g.73601214T>CCA426783488ALMS1c.11511T>C (p.Pro3837=)
c.11167-971T>C (n.11167-971T>C)
c.4597T>C
c.8792T>C
c.5958T>C (p.Pro1986=)
c.8976T>C
c.11892T>C (p.Pro3964=)
c.2046T>C (p.Pro682=)
c.3248T>C
c.1260+333T>C
c.3063T>C
n.67T>C
c.11766T>C (p.Pro3922=)
n.5695T>C
c.11895T>C (p.Pro3965=)
2g.73601214T>GCA426783489ALMS1c.11511T>G (p.Pro3837=)
c.11167-971T>G (n.11167-971T>G)
c.4597T>G
c.8792T>G
c.5958T>G (p.Pro1986=)
c.8976T>G
c.11892T>G (p.Pro3964=)
c.2046T>G (p.Pro682=)
c.3248T>G
c.1260+333T>G
c.3063T>G
n.67T>G
c.11766T>G (p.Pro3922=)
n.5695T>G
c.11895T>G (p.Pro3965=)
2g.73601214T=CA1261033662ALMS1c.11511T= (p.Pro3837=)
c.11167-971T= (n.11167-971T=)
c.4597T=
c.8792T=
c.5958T= (p.Pro1986=)
c.8976T=
c.11892T= (p.Pro3964=)
c.2046T= (p.Pro682=)
c.3248T=
c.1260+333T=
c.3063T=
n.67T=
c.11766T= (p.Pro3922=)
n.5695T=
c.11895T= (p.Pro3965=)
2g.73601215G>ACA347265471ALMS1c.11512G>A (p.Val3838Met)
c.11167-970G>A (n.11167-970G>A)
c.4598G>A
c.8793G>A
c.5959G>A (p.Val1987Met)
c.8977G>A
c.11893G>A (p.Val3965Met)
c.2047G>A (p.Val683Met)
c.3249G>A
c.1260+334G>A
c.3064G>A
n.68G>A
c.11767G>A (p.Val3923Met)
n.5696G>A
c.11896G>A (p.Val3966Met)
2g.73601215G>CCA347265472ALMS1c.11512G>C (p.Val3838Leu)
c.11167-970G>C (n.11167-970G>C)
c.4598G>C
c.8793G>C
c.5959G>C (p.Val1987Leu)
c.8977G>C
c.11893G>C (p.Val3965Leu)
c.2047G>C (p.Val683Leu)
c.3249G>C
c.1260+334G>C
c.3064G>C
n.68G>C
c.11767G>C (p.Val3923Leu)
n.5696G>C
c.11896G>C (p.Val3966Leu)
2g.73601215G=CA1261033665ALMS1c.11512G= (p.Val3838=)
c.11167-970G= (n.11167-970G=)
c.4598G=
c.8793G=
c.5959G= (p.Val1987=)
c.8977G=
c.11893G= (p.Val3965=)
c.2047G= (p.Val683=)
c.3249G=
c.1260+334G=
c.3064G=
n.68G=
c.11767G= (p.Val3923=)
n.5696G=
c.11896G= (p.Val3966=)
2g.73601215G>TCA1715372ALMS1c.11512G>T (p.Val3838Leu)
c.11167-970G>T (n.11167-970G>T)
c.4598G>T
c.8793G>T
c.5959G>T (p.Val1987Leu)
c.8977G>T
c.11893G>T (p.Val3965Leu)
c.2047G>T (p.Val683Leu)
c.3249G>T
c.1260+334G>T
c.3064G>T
n.68G>T
c.11767G>T (p.Val3923Leu)
n.5696G>T
c.11896G>T (p.Val3966Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601216T>ACA347265477ALMS1c.11513T>A (p.Val3838Glu)
c.11167-969T>A (n.11167-969T>A)
c.4599T>A
c.8794T>A
c.5960T>A (p.Val1987Glu)
c.8978T>A
c.11894T>A (p.Val3965Glu)
c.2048T>A (p.Val683Glu)
c.3250T>A
c.1260+335T>A
c.3065T>A
n.69T>A
c.11768T>A (p.Val3923Glu)
n.5697T>A
c.11897T>A (p.Val3966Glu)
2g.73601216T>CCA347265478ALMS1c.11513T>C (p.Val3838Ala)
c.11167-969T>C (n.11167-969T>C)
c.4599T>C
c.8794T>C
c.5960T>C (p.Val1987Ala)
c.8978T>C
c.11894T>C (p.Val3965Ala)
c.2048T>C (p.Val683Ala)
c.3250T>C
c.1260+335T>C
c.3065T>C
n.69T>C
c.11768T>C (p.Val3923Ala)
n.5697T>C
c.11897T>C (p.Val3966Ala)
 gnomAD v4
2g.73601216T>GCA347265481ALMS1c.11513T>G (p.Val3838Gly)
c.11167-969T>G (n.11167-969T>G)
c.4599T>G
c.8794T>G
c.5960T>G (p.Val1987Gly)
c.8978T>G
c.11894T>G (p.Val3965Gly)
c.2048T>G (p.Val683Gly)
c.3250T>G
c.1260+335T>G
c.3065T>G
n.69T>G
c.11768T>G (p.Val3923Gly)
n.5697T>G
c.11897T>G (p.Val3966Gly)
2g.73601217G>ACA426783494ALMS1c.11514G>A (p.Val3838=)
c.11167-968G>A (n.11167-968G>A)
c.4600G>A
c.8795G>A
c.5961G>A (p.Val1987=)
c.8979G>A
c.11895G>A (p.Val3965=)
c.2049G>A (p.Val683=)
c.3251G>A
c.1260+336G>A
c.3066G>A
n.70G>A
c.11769G>A (p.Val3923=)
n.5698G>A
c.11898G>A (p.Val3966=)
 ClinVar dbSNP
2g.73601217G>CCA426783493ALMS1c.11514G>C (p.Val3838=)
c.11167-968G>C (n.11167-968G>C)
c.4600G>C
c.8795G>C
c.5961G>C (p.Val1987=)
c.8979G>C
c.11895G>C (p.Val3965=)
c.2049G>C (p.Val683=)
c.3251G>C
c.1260+336G>C
c.3066G>C
n.70G>C
c.11769G>C (p.Val3923=)
n.5698G>C
c.11898G>C (p.Val3966=)
2g.73601217G>TCA426783495ALMS1c.11514G>T (p.Val3838=)
c.11167-968G>T (n.11167-968G>T)
c.4600G>T
c.8795G>T
c.5961G>T (p.Val1987=)
c.8979G>T
c.11895G>T (p.Val3965=)
c.2049G>T (p.Val683=)
c.3251G>T
c.1260+336G>T
c.3066G>T
n.70G>T
c.11769G>T (p.Val3923=)
n.5698G>T
c.11898G>T (p.Val3966=)
2g.73601218G>ACA347265486ALMS1c.11515G>A (p.Glu3839Lys)
c.11167-967G>A (n.11167-967G>A)
c.4601G>A
c.8796G>A
c.5962G>A (p.Glu1988Lys)
c.8980G>A
c.11896G>A (p.Glu3966Lys)
c.2050G>A (p.Glu684Lys)
c.3252G>A
c.1260+337G>A
c.3067G>A
n.71G>A
c.11770G>A (p.Glu3924Lys)
n.5699G>A
c.11899G>A (p.Glu3967Lys)
 gnomAD v4
2g.73601218G>CCA347265489ALMS1c.11515G>C (p.Glu3839Gln)
c.11167-967G>C (n.11167-967G>C)
c.4601G>C
c.8796G>C
c.5962G>C (p.Glu1988Gln)
c.8980G>C
c.11896G>C (p.Glu3966Gln)
c.2050G>C (p.Glu684Gln)
c.3252G>C
c.1260+337G>C
c.3067G>C
n.71G>C
c.11770G>C (p.Glu3924Gln)
n.5699G>C
c.11899G>C (p.Glu3967Gln)
2g.73601218G>TCA347265491ALMS1c.11515G>T (p.Glu3839Ter)
c.11167-967G>T (n.11167-967G>T)
c.4601G>T
c.8796G>T
c.5962G>T (p.Glu1988Ter)
c.8980G>T
c.11896G>T (p.Glu3966Ter)
c.2050G>T (p.Glu684Ter)
c.3252G>T
c.1260+337G>T
c.3067G>T
n.71G>T
c.11770G>T (p.Glu3924Ter)
n.5699G>T
c.11899G>T (p.Glu3967Ter)
2g.73601219A=CA1261033670ALMS1c.11516A= (p.Glu3839=)
c.11167-966A= (n.11167-966A=)
c.4602A=
c.8797A=
c.5963A= (p.Glu1988=)
c.8981A=
c.11897A= (p.Glu3966=)
c.2051A= (p.Glu684=)
c.3253A=
c.1260+338A=
c.3068A=
n.72A=
c.11771A= (p.Glu3924=)
n.5700A=
c.11900A= (p.Glu3967=)
2g.73601219A>CCA347265500ALMS1c.11516A>C (p.Glu3839Ala)
c.11167-966A>C (n.11167-966A>C)
c.4602A>C
c.8797A>C
c.5963A>C (p.Glu1988Ala)
c.8981A>C
c.11897A>C (p.Glu3966Ala)
c.2051A>C (p.Glu684Ala)
c.3253A>C
c.1260+338A>C
c.3068A>C
n.72A>C
c.11771A>C (p.Glu3924Ala)
n.5700A>C
c.11900A>C (p.Glu3967Ala)
2g.73601219A>GCA1715374ALMS1c.11516A>G (p.Glu3839Gly)
c.11167-966A>G (n.11167-966A>G)
c.4602A>G
c.8797A>G
c.5963A>G (p.Glu1988Gly)
c.8981A>G
c.11897A>G (p.Glu3966Gly)
c.2051A>G (p.Glu684Gly)
c.3253A>G
c.1260+338A>G
c.3068A>G
n.72A>G
c.11771A>G (p.Glu3924Gly)
n.5700A>G
c.11900A>G (p.Glu3967Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601219A>TCA1715373ALMS1c.11516A>T (p.Glu3839Val)
c.11167-966A>T (n.11167-966A>T)
c.4602A>T
c.8797A>T
c.5963A>T (p.Glu1988Val)
c.8981A>T
c.11897A>T (p.Glu3966Val)
c.2051A>T (p.Glu684Val)
c.3253A>T
c.1260+338A>T
c.3068A>T
n.72A>T
c.11771A>T (p.Glu3924Val)
n.5700A>T
c.11900A>T (p.Glu3967Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601220A>CCA347265501ALMS1c.11517A>C (p.Glu3839Asp)
c.11167-965A>C (n.11167-965A>C)
c.4603A>C
c.8798A>C
c.5964A>C (p.Glu1988Asp)
c.8982A>C
c.11898A>C (p.Glu3966Asp)
c.2052A>C (p.Glu684Asp)
c.3254A>C
c.1260+339A>C
c.3069A>C
n.73A>C
c.11772A>C (p.Glu3924Asp)
n.5701A>C
c.11901A>C (p.Glu3967Asp)
2g.73601220A>GCA426783499ALMS1c.11517A>G (p.Glu3839=)
c.11167-965A>G (n.11167-965A>G)
c.4603A>G
c.8798A>G
c.5964A>G (p.Glu1988=)
c.8982A>G
c.11898A>G (p.Glu3966=)
c.2052A>G (p.Glu684=)
c.3254A>G
c.1260+339A>G
c.3069A>G
n.73A>G
c.11772A>G (p.Glu3924=)
n.5701A>G
c.11901A>G (p.Glu3967=)
 ClinVar
2g.73601220A>TCA347265503ALMS1c.11517A>T (p.Glu3839Asp)
c.11167-965A>T (n.11167-965A>T)
c.4603A>T
c.8798A>T
c.5964A>T (p.Glu1988Asp)
c.8982A>T
c.11898A>T (p.Glu3966Asp)
c.2052A>T (p.Glu684Asp)
c.3254A>T
c.1260+339A>T
c.3069A>T
n.73A>T
c.11772A>T (p.Glu3924Asp)
n.5701A>T
c.11901A>T (p.Glu3967Asp)
2g.73601221A>CCA347265508ALMS1c.11518A>C (p.Asn3840His)
c.11167-964A>C (n.11167-964A>C)
c.4604A>C
c.8799A>C
c.5965A>C (p.Asn1989His)
c.8983A>C
c.11899A>C (p.Asn3967His)
c.2053A>C (p.Asn685His)
c.3255A>C
c.1260+340A>C
c.3070A>C
n.74A>C
c.11773A>C (p.Asn3925His)
n.5702A>C
c.11902A>C (p.Asn3968His)
2g.73601221A>GCA347265511ALMS1c.11518A>G (p.Asn3840Asp)
c.11167-964A>G (n.11167-964A>G)
c.4604A>G
c.8799A>G
c.5965A>G (p.Asn1989Asp)
c.8983A>G
c.11899A>G (p.Asn3967Asp)
c.2053A>G (p.Asn685Asp)
c.3255A>G
c.1260+340A>G
c.3070A>G
n.74A>G
c.11773A>G (p.Asn3925Asp)
n.5702A>G
c.11902A>G (p.Asn3968Asp)
2g.73601221A>TCA347265514ALMS1c.11518A>T (p.Asn3840Tyr)
c.11167-964A>T (n.11167-964A>T)
c.4604A>T
c.8799A>T
c.5965A>T (p.Asn1989Tyr)
c.8983A>T
c.11899A>T (p.Asn3967Tyr)
c.2053A>T (p.Asn685Tyr)
c.3255A>T
c.1260+340A>T
c.3070A>T
n.74A>T
c.11773A>T (p.Asn3925Tyr)
n.5702A>T
c.11902A>T (p.Asn3968Tyr)
2g.73601222A>CCA347265518ALMS1c.11519A>C (p.Asn3840Thr)
c.11167-963A>C (n.11167-963A>C)
c.4605A>C
c.8800A>C
c.5966A>C (p.Asn1989Thr)
c.8984A>C
c.11900A>C (p.Asn3967Thr)
c.2054A>C (p.Asn685Thr)
c.3256A>C
c.1260+341A>C
c.3071A>C
n.75A>C
c.11774A>C (p.Asn3925Thr)
n.5703A>C
c.11903A>C (p.Asn3968Thr)
2g.73601222A>GCA347265520ALMS1c.11519A>G (p.Asn3840Ser)
c.11167-963A>G (n.11167-963A>G)
c.4605A>G
c.8800A>G
c.5966A>G (p.Asn1989Ser)
c.8984A>G
c.11900A>G (p.Asn3967Ser)
c.2054A>G (p.Asn685Ser)
c.3256A>G
c.1260+341A>G
c.3071A>G
n.75A>G
c.11774A>G (p.Asn3925Ser)
n.5703A>G
c.11903A>G (p.Asn3968Ser)
 gnomAD v4
2g.73601222A>TCA347265522ALMS1c.11519A>T (p.Asn3840Ile)
c.11167-963A>T (n.11167-963A>T)
c.4605A>T
c.8800A>T
c.5966A>T (p.Asn1989Ile)
c.8984A>T
c.11900A>T (p.Asn3967Ile)
c.2054A>T (p.Asn685Ile)
c.3256A>T
c.1260+341A>T
c.3071A>T
n.75A>T
c.11774A>T (p.Asn3925Ile)
n.5703A>T
c.11903A>T (p.Asn3968Ile)
2g.73601223T>ACA347265527ALMS1c.11520T>A (p.Asn3840Lys)
c.11167-962T>A (n.11167-962T>A)
c.4606T>A
c.8801T>A
c.5967T>A (p.Asn1989Lys)
c.8985T>A
c.11901T>A (p.Asn3967Lys)
c.2055T>A (p.Asn685Lys)
c.3257T>A
c.1260+342T>A
c.3072T>A
n.76T>A
c.11775T>A (p.Asn3925Lys)
n.5704T>A
c.11904T>A (p.Asn3968Lys)
2g.73601223T>CCA1715375ALMS1c.11520T>C (p.Asn3840=)
c.11167-962T>C (n.11167-962T>C)
c.4606T>C
c.8801T>C
c.5967T>C (p.Asn1989=)
c.8985T>C
c.11901T>C (p.Asn3967=)
c.2055T>C (p.Asn685=)
c.3257T>C
c.1260+342T>C
c.3072T>C
n.76T>C
c.11775T>C (p.Asn3925=)
n.5704T>C
c.11904T>C (p.Asn3968=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601223T>GCA347265532ALMS1c.11520T>G (p.Asn3840Lys)
c.11167-962T>G (n.11167-962T>G)
c.4606T>G
c.8801T>G
c.5967T>G (p.Asn1989Lys)
c.8985T>G
c.11901T>G (p.Asn3967Lys)
c.2055T>G (p.Asn685Lys)
c.3257T>G
c.1260+342T>G
c.3072T>G
n.76T>G
c.11775T>G (p.Asn3925Lys)
n.5704T>G
c.11904T>G (p.Asn3968Lys)
2g.73601223T=CA1261033674ALMS1c.11520T= (p.Asn3840=)
c.11167-962T= (n.11167-962T=)
c.4606T=
c.8801T=
c.5967T= (p.Asn1989=)
c.8985T=
c.11901T= (p.Asn3967=)
c.2055T= (p.Asn685=)
c.3257T=
c.1260+342T=
c.3072T=
n.76T=
c.11775T= (p.Asn3925=)
n.5704T=
c.11904T= (p.Asn3968=)
2g.73601224G>ACA347265539ALMS1c.11521G>A (p.Val3841Met)
c.11167-961G>A (n.11167-961G>A)
c.4607G>A
c.8802G>A
c.5968G>A (p.Val1990Met)
c.8986G>A
c.11902G>A (p.Val3968Met)
c.2056G>A (p.Val686Met)
c.3258G>A
c.1260+343G>A
c.3073G>A
n.77G>A
c.11776G>A (p.Val3926Met)
n.5705G>A
c.11905G>A (p.Val3969Met)
 dbSNP gnomAD v2 gnomAD v4
2g.73601224G>CCA347265541ALMS1c.11521G>C (p.Val3841Leu)
c.11167-961G>C (n.11167-961G>C)
c.4607G>C
c.8802G>C
c.5968G>C (p.Val1990Leu)
c.8986G>C
c.11902G>C (p.Val3968Leu)
c.2056G>C (p.Val686Leu)
c.3258G>C
c.1260+343G>C
c.3073G>C
n.77G>C
c.11776G>C (p.Val3926Leu)
n.5705G>C
c.11905G>C (p.Val3969Leu)
2g.73601224G=CA1261033677ALMS1c.11521G= (p.Val3841=)
c.11167-961G= (n.11167-961G=)
c.4607G=
c.8802G=
c.5968G= (p.Val1990=)
c.8986G=
c.11902G= (p.Val3968=)
c.2056G= (p.Val686=)
c.3258G=
c.1260+343G=
c.3073G=
n.77G=
c.11776G= (p.Val3926=)
n.5705G=
c.11905G= (p.Val3969=)
2g.73601224G>TCA347265535ALMS1c.11521G>T (p.Val3841Leu)
c.11167-961G>T (n.11167-961G>T)
c.4607G>T
c.8802G>T
c.5968G>T (p.Val1990Leu)
c.8986G>T
c.11902G>T (p.Val3968Leu)
c.2056G>T (p.Val686Leu)
c.3258G>T
c.1260+343G>T
c.3073G>T
n.77G>T
c.11776G>T (p.Val3926Leu)
n.5705G>T
c.11905G>T (p.Val3969Leu)
2g.73601226_73601230delCA2499216270ALMS1c.11523_11527del (p.Glu3842Ter)
c.11167-959_11167-955del (n.11167-959_11167-955del)
c.4609_4613del
c.8804_8808del
c.5970_5974del (p.Glu1991Ter)
c.8988_8992del
c.11904_11908del (p.Glu3969Ter)
c.2058_2062del (p.Glu687Ter)
c.3260_3264del
c.1260+345_1260+349del
c.3075_3079del
n.79_83del
c.11778_11782del (p.Glu3927Ter)
n.5707_5711del
c.11907_11911del (p.Glu3970Ter)
 ClinVar dbSNP gnomAD v4
2g.73601227_73601253delCA2659621091ALMS1c.11524_11550del (p.Glu3842_Val3850del)
c.11167-958_11167-932del (n.11167-958_11167-932del)
c.4610_4636del
c.8805_8831del
c.5971_5997del (p.Glu1991_Val1999del)
c.8989_9015del
c.11905_11931del (p.Glu3969_Val3977del)
c.2059_2085del (p.Glu687_Val695del)
c.3261_3287del
c.1260+346_1260+372del
c.3076_3102del
n.80_106del
c.11779_11805del (p.Glu3927_Val3935del)
n.5708_5734del
c.11908_11934del (p.Glu3970_Val3978del)
 gnomAD v4
2g.73601225T>ACA347265545ALMS1c.11522T>A (p.Val3841Glu)
c.11167-960T>A (n.11167-960T>A)
c.4608T>A
c.8803T>A
c.5969T>A (p.Val1990Glu)
c.8987T>A
c.11903T>A (p.Val3968Glu)
c.2057T>A (p.Val686Glu)
c.3259T>A
c.1260+344T>A
c.3074T>A
n.78T>A
c.11777T>A (p.Val3926Glu)
n.5706T>A
c.11906T>A (p.Val3969Glu)
 gnomAD v4
2g.73601225T>CCA347265547ALMS1c.11522T>C (p.Val3841Ala)
c.11167-960T>C (n.11167-960T>C)
c.4608T>C
c.8803T>C
c.5969T>C (p.Val1990Ala)
c.8987T>C
c.11903T>C (p.Val3968Ala)
c.2057T>C (p.Val686Ala)
c.3259T>C
c.1260+344T>C
c.3074T>C
n.78T>C
c.11777T>C (p.Val3926Ala)
n.5706T>C
c.11906T>C (p.Val3969Ala)
2g.73601225T>GCA347265550ALMS1c.11522T>G (p.Val3841Gly)
c.11167-960T>G (n.11167-960T>G)
c.4608T>G
c.8803T>G
c.5969T>G (p.Val1990Gly)
c.8987T>G
c.11903T>G (p.Val3968Gly)
c.2057T>G (p.Val686Gly)
c.3259T>G
c.1260+344T>G
c.3074T>G
n.78T>G
c.11777T>G (p.Val3926Gly)
n.5706T>G
c.11906T>G (p.Val3969Gly)
2g.73601226G>ACA426783503ALMS1c.11523G>A (p.Val3841=)
c.11167-959G>A (n.11167-959G>A)
c.4609G>A
c.8804G>A
c.5970G>A (p.Val1990=)
c.8988G>A
c.11904G>A (p.Val3968=)
c.2058G>A (p.Val686=)
c.3260G>A
c.1260+345G>A
c.3075G>A
n.79G>A
c.11778G>A (p.Val3926=)
n.5707G>A
c.11907G>A (p.Val3969=)
 gnomAD v4
2g.73601226G>CCA426783504ALMS1c.11523G>C (p.Val3841=)
c.11167-959G>C (n.11167-959G>C)
c.4609G>C
c.8804G>C
c.5970G>C (p.Val1990=)
c.8988G>C
c.11904G>C (p.Val3968=)
c.2058G>C (p.Val686=)
c.3260G>C
c.1260+345G>C
c.3075G>C
n.79G>C
c.11778G>C (p.Val3926=)
n.5707G>C
c.11907G>C (p.Val3969=)
2g.73601226G>TCA426783505ALMS1c.11523G>T (p.Val3841=)
c.11167-959G>T (n.11167-959G>T)
c.4609G>T
c.8804G>T
c.5970G>T (p.Val1990=)
c.8988G>T
c.11904G>T (p.Val3968=)
c.2058G>T (p.Val686=)
c.3260G>T
c.1260+345G>T
c.3075G>T
n.79G>T
c.11778G>T (p.Val3926=)
n.5707G>T
c.11907G>T (p.Val3969=)
 gnomAD v4
2g.73601227G>ACA347265553ALMS1c.11524G>A (p.Glu3842Lys)
c.11167-958G>A (n.11167-958G>A)
c.4610G>A
c.8805G>A
c.5971G>A (p.Glu1991Lys)
c.8989G>A
c.11905G>A (p.Glu3969Lys)
c.2059G>A (p.Glu687Lys)
c.3261G>A
c.1260+346G>A
c.3076G>A
n.80G>A
c.11779G>A (p.Glu3927Lys)
n.5708G>A
c.11908G>A (p.Glu3970Lys)
 dbSNP
2g.73601227G>CCA347265555ALMS1c.11524G>C (p.Glu3842Gln)
c.11167-958G>C (n.11167-958G>C)
c.4610G>C
c.8805G>C
c.5971G>C (p.Glu1991Gln)
c.8989G>C
c.11905G>C (p.Glu3969Gln)
c.2059G>C (p.Glu687Gln)
c.3261G>C
c.1260+346G>C
c.3076G>C
n.80G>C
c.11779G>C (p.Glu3927Gln)
n.5708G>C
c.11908G>C (p.Glu3970Gln)
 gnomAD v4
2g.73601227G=CA1261033681ALMS1c.11524G= (p.Glu3842=)
c.11167-958G= (n.11167-958G=)
c.4610G=
c.8805G=
c.5971G= (p.Glu1991=)
c.8989G=
c.11905G= (p.Glu3969=)
c.2059G= (p.Glu687=)
c.3261G=
c.1260+346G=
c.3076G=
n.80G=
c.11779G= (p.Glu3927=)
n.5708G=
c.11908G= (p.Glu3970=)
2g.73601227G>TCA347265558ALMS1c.11524G>T (p.Glu3842Ter)
c.11167-958G>T (n.11167-958G>T)
c.4610G>T
c.8805G>T
c.5971G>T (p.Glu1991Ter)
c.8989G>T
c.11905G>T (p.Glu3969Ter)
c.2059G>T (p.Glu687Ter)
c.3261G>T
c.1260+346G>T
c.3076G>T
n.80G>T
c.11779G>T (p.Glu3927Ter)
n.5708G>T
c.11908G>T (p.Glu3970Ter)
2g.73601228A>CCA347265560ALMS1c.11525A>C (p.Glu3842Ala)
c.11167-957A>C (n.11167-957A>C)
c.4611A>C
c.8806A>C
c.5972A>C (p.Glu1991Ala)
c.8990A>C
c.11906A>C (p.Glu3969Ala)
c.2060A>C (p.Glu687Ala)
c.3262A>C
c.1260+347A>C
c.3077A>C
n.81A>C
c.11780A>C (p.Glu3927Ala)
n.5709A>C
c.11909A>C (p.Glu3970Ala)
2g.73601228A>GCA347265562ALMS1c.11525A>G (p.Glu3842Gly)
c.11167-957A>G (n.11167-957A>G)
c.4611A>G
c.8806A>G
c.5972A>G (p.Glu1991Gly)
c.8990A>G
c.11906A>G (p.Glu3969Gly)
c.2060A>G (p.Glu687Gly)
c.3262A>G
c.1260+347A>G
c.3077A>G
n.81A>G
c.11780A>G (p.Glu3927Gly)
n.5709A>G
c.11909A>G (p.Glu3970Gly)
2g.73601228A>TCA347265565ALMS1c.11525A>T (p.Glu3842Val)
c.11167-957A>T (n.11167-957A>T)
c.4611A>T
c.8806A>T
c.5972A>T (p.Glu1991Val)
c.8990A>T
c.11906A>T (p.Glu3969Val)
c.2060A>T (p.Glu687Val)
c.3262A>T
c.1260+347A>T
c.3077A>T
n.81A>T
c.11780A>T (p.Glu3927Val)
n.5709A>T
c.11909A>T (p.Glu3970Val)
2g.73601229G>ACA426783507ALMS1c.11526G>A (p.Glu3842=)
c.11167-956G>A (n.11167-956G>A)
c.4612G>A
c.8807G>A
c.5973G>A (p.Glu1991=)
c.8991G>A
c.11907G>A (p.Glu3969=)
c.2061G>A (p.Glu687=)
c.3263G>A
c.1260+348G>A
c.3078G>A
n.82G>A
c.11781G>A (p.Glu3927=)
n.5710G>A
c.11910G>A (p.Glu3970=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73601229G>CCA347265569ALMS1c.11526G>C (p.Glu3842Asp)
c.11167-956G>C (n.11167-956G>C)
c.4612G>C
c.8807G>C
c.5973G>C (p.Glu1991Asp)
c.8991G>C
c.11907G>C (p.Glu3969Asp)
c.2061G>C (p.Glu687Asp)
c.3263G>C
c.1260+348G>C
c.3078G>C
n.82G>C
c.11781G>C (p.Glu3927Asp)
n.5710G>C
c.11910G>C (p.Glu3970Asp)
2g.73601229G=CA1261033682ALMS1c.11526G= (p.Glu3842=)
c.11167-956G= (n.11167-956G=)
c.4612G=
c.8807G=
c.5973G= (p.Glu1991=)
c.8991G=
c.11907G= (p.Glu3969=)
c.2061G= (p.Glu687=)
c.3263G=
c.1260+348G=
c.3078G=
n.82G=
c.11781G= (p.Glu3927=)
n.5710G=
c.11910G= (p.Glu3970=)
2g.73601229G>TCA1715376ALMS1c.11526G>T (p.Glu3842Asp)
c.11167-956G>T (n.11167-956G>T)
c.4612G>T
c.8807G>T
c.5973G>T (p.Glu1991Asp)
c.8991G>T
c.11907G>T (p.Glu3969Asp)
c.2061G>T (p.Glu687Asp)
c.3263G>T
c.1260+348G>T
c.3078G>T
n.82G>T
c.11781G>T (p.Glu3927Asp)
n.5710G>T
c.11910G>T (p.Glu3970Asp)
 dbSNP ExAC gnomAD v4
2g.73601230T>ACA347265580ALMS1c.11527T>A (p.Ser3843Thr)
c.11167-955T>A (n.11167-955T>A)
c.4613T>A
c.8808T>A
c.5974T>A (p.Ser1992Thr)
c.8992T>A
c.11908T>A (p.Ser3970Thr)
c.2062T>A (p.Ser688Thr)
c.3264T>A
c.1260+349T>A
c.3079T>A
n.83T>A
c.11782T>A (p.Ser3928Thr)
n.5711T>A
c.11911T>A (p.Ser3971Thr)
2g.73601230T>CCA50337258ALMS1c.11527T>C (p.Ser3843Pro)
c.11167-955T>C (n.11167-955T>C)
c.4613T>C
c.8808T>C
c.5974T>C (p.Ser1992Pro)
c.8992T>C
c.11908T>C (p.Ser3970Pro)
c.2062T>C (p.Ser688Pro)
c.3264T>C
c.1260+349T>C
c.3079T>C
n.83T>C
c.11782T>C (p.Ser3928Pro)
n.5711T>C
c.11911T>C (p.Ser3971Pro)
 ClinVar dbSNP
2g.73601230T>GCA347265575ALMS1c.11527T>G (p.Ser3843Ala)
c.11167-955T>G (n.11167-955T>G)
c.4613T>G
c.8808T>G
c.5974T>G (p.Ser1992Ala)
c.8992T>G
c.11908T>G (p.Ser3970Ala)
c.2062T>G (p.Ser688Ala)
c.3264T>G
c.1260+349T>G
c.3079T>G
n.83T>G
c.11782T>G (p.Ser3928Ala)
n.5711T>G
c.11911T>G (p.Ser3971Ala)
 gnomAD v4
2g.73601230T=CA1261033686ALMS1c.11527T= (p.Ser3843=)
c.11167-955T= (n.11167-955T=)
c.4613T=
c.8808T=
c.5974T= (p.Ser1992=)
c.8992T=
c.11908T= (p.Ser3970=)
c.2062T= (p.Ser688=)
c.3264T=
c.1260+349T=
c.3079T=
n.83T=
c.11782T= (p.Ser3928=)
n.5711T=
c.11911T= (p.Ser3971=)
2g.73601231C>ACA347265583ALMS1c.11528C>A (p.Ser3843Tyr)
c.11167-954C>A (n.11167-954C>A)
c.4614C>A
c.8809C>A
c.5975C>A (p.Ser1992Tyr)
c.8993C>A
c.11909C>A (p.Ser3970Tyr)
c.2063C>A (p.Ser688Tyr)
c.3265C>A
c.1260+350C>A
c.3080C>A
n.84C>A
c.11783C>A (p.Ser3928Tyr)
n.5712C>A
c.11912C>A (p.Ser3971Tyr)
2g.73601231C=CA1261033691ALMS1c.11528C= (p.Ser3843=)
c.11167-954C= (n.11167-954C=)
c.4614C=
c.8809C=
c.5975C= (p.Ser1992=)
c.8993C=
c.11909C= (p.Ser3970=)
c.2063C= (p.Ser688=)
c.3265C=
c.1260+350C=
c.3080C=
n.84C=
c.11783C= (p.Ser3928=)
n.5712C=
c.11912C= (p.Ser3971=)
2g.73601231C>GCA1715377ALMS1c.11528C>G (p.Ser3843Cys)
c.11167-954C>G (n.11167-954C>G)
c.4614C>G
c.8809C>G
c.5975C>G (p.Ser1992Cys)
c.8993C>G
c.11909C>G (p.Ser3970Cys)
c.2063C>G (p.Ser688Cys)
c.3265C>G
c.1260+350C>G
c.3080C>G
n.84C>G
c.11783C>G (p.Ser3928Cys)
n.5712C>G
c.11912C>G (p.Ser3971Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601231C>TCA347265587ALMS1c.11528C>T (p.Ser3843Phe)
c.11167-954C>T (n.11167-954C>T)
c.4614C>T
c.8809C>T
c.5975C>T (p.Ser1992Phe)
c.8993C>T
c.11909C>T (p.Ser3970Phe)
c.2063C>T (p.Ser688Phe)
c.3265C>T
c.1260+350C>T
c.3080C>T
n.84C>T
c.11783C>T (p.Ser3928Phe)
n.5712C>T
c.11912C>T (p.Ser3971Phe)
2g.73601232T>ACA426783508ALMS1c.11529T>A (p.Ser3843=)
c.11167-953T>A (n.11167-953T>A)
c.4615T>A
c.8810T>A
c.5976T>A (p.Ser1992=)
c.8994T>A
c.11910T>A (p.Ser3970=)
c.2064T>A (p.Ser688=)
c.3266T>A
c.1260+351T>A
c.3081T>A
n.85T>A
c.11784T>A (p.Ser3928=)
n.5713T>A
c.11913T>A (p.Ser3971=)
2g.73601232T>CCA426783509ALMS1c.11529T>C (p.Ser3843=)
c.11167-953T>C (n.11167-953T>C)
c.4615T>C
c.8810T>C
c.5976T>C (p.Ser1992=)
c.8994T>C
c.11910T>C (p.Ser3970=)
c.2064T>C (p.Ser688=)
c.3266T>C
c.1260+351T>C
c.3081T>C
n.85T>C
c.11784T>C (p.Ser3928=)
n.5713T>C
c.11913T>C (p.Ser3971=)
 ClinVar dbSNP
2g.73601232T>GCA426783511ALMS1c.11529T>G (p.Ser3843=)
c.11167-953T>G (n.11167-953T>G)
c.4615T>G
c.8810T>G
c.5976T>G (p.Ser1992=)
c.8994T>G
c.11910T>G (p.Ser3970=)
c.2064T>G (p.Ser688=)
c.3266T>G
c.1260+351T>G
c.3081T>G
n.85T>G
c.11784T>G (p.Ser3928=)
n.5713T>G
c.11913T>G (p.Ser3971=)
2g.73601233A=CA1261033693ALMS1c.11530A= (p.Arg3844=)
c.11167-952A= (n.11167-952A=)
c.4616A=
c.8811A=
c.5977A= (p.Arg1993=)
c.8995A=
c.11911A= (p.Arg3971=)
c.2065A= (p.Arg689=)
c.3267A=
c.1260+352A=
c.3082A=
n.86A=
c.11785A= (p.Arg3929=)
n.5714A=
c.11914A= (p.Arg3972=)
2g.73601233A>CCA426783512ALMS1c.11530A>C (p.Arg3844=)
c.11167-952A>C (n.11167-952A>C)
c.4616A>C
c.8811A>C
c.5977A>C (p.Arg1993=)
c.8995A>C
c.11911A>C (p.Arg3971=)
c.2065A>C (p.Arg689=)
c.3267A>C
c.1260+352A>C
c.3082A>C
n.86A>C
c.11785A>C (p.Arg3929=)
n.5714A>C
c.11914A>C (p.Arg3972=)
2g.73601233A>GCA1715378ALMS1c.11530A>G (p.Arg3844Gly)
c.11167-952A>G (n.11167-952A>G)
c.4616A>G
c.8811A>G
c.5977A>G (p.Arg1993Gly)
c.8995A>G
c.11911A>G (p.Arg3971Gly)
c.2065A>G (p.Arg689Gly)
c.3267A>G
c.1260+352A>G
c.3082A>G
n.86A>G
c.11785A>G (p.Arg3929Gly)
n.5714A>G
c.11914A>G (p.Arg3972Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601233A>TCA347265593ALMS1c.11530A>T (p.Arg3844Ter)
c.11167-952A>T (n.11167-952A>T)
c.4616A>T
c.8811A>T
c.5977A>T (p.Arg1993Ter)
c.8995A>T
c.11911A>T (p.Arg3971Ter)
c.2065A>T (p.Arg689Ter)
c.3267A>T
c.1260+352A>T
c.3082A>T
n.86A>T
c.11785A>T (p.Arg3929Ter)
n.5714A>T
c.11914A>T (p.Arg3972Ter)
2g.73601234G>ACA347265597ALMS1c.11531G>A (p.Arg3844Lys)
c.11167-951G>A (n.11167-951G>A)
c.4617G>A
c.8812G>A
c.5978G>A (p.Arg1993Lys)
c.8996G>A
c.11912G>A (p.Arg3971Lys)
c.2066G>A (p.Arg689Lys)
c.3268G>A
c.1260+353G>A
c.3083G>A
n.87G>A
c.11786G>A (p.Arg3929Lys)
n.5715G>A
c.11915G>A (p.Arg3972Lys)
2g.73601234G>CCA347265598ALMS1c.11531G>C (p.Arg3844Thr)
c.11167-951G>C (n.11167-951G>C)
c.4617G>C
c.8812G>C
c.5978G>C (p.Arg1993Thr)
c.8996G>C
c.11912G>C (p.Arg3971Thr)
c.2066G>C (p.Arg689Thr)
c.3268G>C
c.1260+353G>C
c.3083G>C
n.87G>C
c.11786G>C (p.Arg3929Thr)
n.5715G>C
c.11915G>C (p.Arg3972Thr)
 gnomAD v4
2g.73601234G=CA1261033695ALMS1c.11531G= (p.Arg3844=)
c.11167-951G= (n.11167-951G=)
c.4617G=
c.8812G=
c.5978G= (p.Arg1993=)
c.8996G=
c.11912G= (p.Arg3971=)
c.2066G= (p.Arg689=)
c.3268G=
c.1260+353G=
c.3083G=
n.87G=
c.11786G= (p.Arg3929=)
n.5715G=
c.11915G= (p.Arg3972=)
2g.73601234G>TCA347265601ALMS1c.11531G>T (p.Arg3844Ile)
c.11167-951G>T (n.11167-951G>T)
c.4617G>T
c.8812G>T
c.5978G>T (p.Arg1993Ile)
c.8996G>T
c.11912G>T (p.Arg3971Ile)
c.2066G>T (p.Arg689Ile)
c.3268G>T
c.1260+353G>T
c.3083G>T
n.87G>T
c.11786G>T (p.Arg3929Ile)
n.5715G>T
c.11915G>T (p.Arg3972Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.73601235A>CCA347265604ALMS1c.11532A>C (p.Arg3844Ser)
c.11167-950A>C (n.11167-950A>C)
c.4618A>C
c.8813A>C
c.5979A>C (p.Arg1993Ser)
c.8997A>C
c.11913A>C (p.Arg3971Ser)
c.2067A>C (p.Arg689Ser)
c.3269A>C
c.1260+354A>C
c.3084A>C
n.88A>C
c.11787A>C (p.Arg3929Ser)
n.5716A>C
c.11916A>C (p.Arg3972Ser)
2g.73601235A>GCA426783513ALMS1c.11532A>G (p.Arg3844=)
c.11167-950A>G (n.11167-950A>G)
c.4618A>G
c.8813A>G
c.5979A>G (p.Arg1993=)
c.8997A>G
c.11913A>G (p.Arg3971=)
c.2067A>G (p.Arg689=)
c.3269A>G
c.1260+354A>G
c.3084A>G
n.88A>G
c.11787A>G (p.Arg3929=)
n.5716A>G
c.11916A>G (p.Arg3972=)
2g.73601235A>TCA347265606ALMS1c.11532A>T (p.Arg3844Ser)
c.11167-950A>T (n.11167-950A>T)
c.4618A>T
c.8813A>T
c.5979A>T (p.Arg1993Ser)
c.8997A>T
c.11913A>T (p.Arg3971Ser)
c.2067A>T (p.Arg689Ser)
c.3269A>T
c.1260+354A>T
c.3084A>T
n.88A>T
c.11787A>T (p.Arg3929Ser)
n.5716A>T
c.11916A>T (p.Arg3972Ser)
2g.73601236T>ACA347265609ALMS1c.11533T>A (p.Ser3845Thr)
c.11167-949T>A (n.11167-949T>A)
c.4619T>A
c.8814T>A
c.5980T>A (p.Ser1994Thr)
c.8998T>A
c.11914T>A (p.Ser3972Thr)
c.2068T>A (p.Ser690Thr)
c.3270T>A
c.1260+355T>A
c.3085T>A
n.89T>A
c.11788T>A (p.Ser3930Thr)
n.5717T>A
c.11917T>A (p.Ser3973Thr)
 dbSNP gnomAD v2
2g.73601236T>CCA347265611ALMS1c.11533T>C (p.Ser3845Pro)
c.11167-949T>C (n.11167-949T>C)
c.4619T>C
c.8814T>C
c.5980T>C (p.Ser1994Pro)
c.8998T>C
c.11914T>C (p.Ser3972Pro)
c.2068T>C (p.Ser690Pro)
c.3270T>C
c.1260+355T>C
c.3085T>C
n.89T>C
c.11788T>C (p.Ser3930Pro)
n.5717T>C
c.11917T>C (p.Ser3973Pro)
2g.73601236T>GCA1715379ALMS1c.11533T>G (p.Ser3845Ala)
c.11167-949T>G (n.11167-949T>G)
c.4619T>G
c.8814T>G
c.5980T>G (p.Ser1994Ala)
c.8998T>G
c.11914T>G (p.Ser3972Ala)
c.2068T>G (p.Ser690Ala)
c.3270T>G
c.1260+355T>G
c.3085T>G
n.89T>G
c.11788T>G (p.Ser3930Ala)
n.5717T>G
c.11917T>G (p.Ser3973Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601236T=CA1261033699ALMS1c.11533T= (p.Ser3845=)
c.11167-949T= (n.11167-949T=)
c.4619T=
c.8814T=
c.5980T= (p.Ser1994=)
c.8998T=
c.11914T= (p.Ser3972=)
c.2068T= (p.Ser690=)
c.3270T=
c.1260+355T=
c.3085T=
n.89T=
c.11788T= (p.Ser3930=)
n.5717T=
c.11917T= (p.Ser3973=)
2g.73601237C>ACA347265618ALMS1c.11534C>A (p.Ser3845Ter)
c.11167-948C>A (n.11167-948C>A)
c.4620C>A
c.8815C>A
c.5981C>A (p.Ser1994Ter)
c.8999C>A
c.11915C>A (p.Ser3972Ter)
c.2069C>A (p.Ser690Ter)
c.3271C>A
c.1260+356C>A
c.3086C>A
n.90C>A
c.11789C>A (p.Ser3930Ter)
n.5718C>A
c.11918C>A (p.Ser3973Ter)
2g.73601237C=CA1261033703ALMS1c.11534C= (p.Ser3845=)
c.11167-948C= (n.11167-948C=)
c.4620C=
c.8815C=
c.5981C= (p.Ser1994=)
c.8999C=
c.11915C= (p.Ser3972=)
c.2069C= (p.Ser690=)
c.3271C=
c.1260+356C=
c.3086C=
n.90C=
c.11789C= (p.Ser3930=)
n.5718C=
c.11918C= (p.Ser3973=)
2g.73601237C>GCA1715380ALMS1c.11534C>G (p.Ser3845Ter)
c.11167-948C>G (n.11167-948C>G)
c.4620C>G
c.8815C>G
c.5981C>G (p.Ser1994Ter)
c.8999C>G
c.11915C>G (p.Ser3972Ter)
c.2069C>G (p.Ser690Ter)
c.3271C>G
c.1260+356C>G
c.3086C>G
n.90C>G
c.11789C>G (p.Ser3930Ter)
n.5718C>G
c.11918C>G (p.Ser3973Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601237C>TCA347265615ALMS1c.11534C>T (p.Ser3845Leu)
c.11167-948C>T (n.11167-948C>T)
c.4620C>T
c.8815C>T
c.5981C>T (p.Ser1994Leu)
c.8999C>T
c.11915C>T (p.Ser3972Leu)
c.2069C>T (p.Ser690Leu)
c.3271C>T
c.1260+356C>T
c.3086C>T
n.90C>T
c.11789C>T (p.Ser3930Leu)
n.5718C>T
c.11918C>T (p.Ser3973Leu)
2g.73601238A>CCA426783516ALMS1c.11535A>C (p.Ser3845=)
c.11167-947A>C (n.11167-947A>C)
c.4621A>C
c.8816A>C
c.5982A>C (p.Ser1994=)
c.9000A>C
c.11916A>C (p.Ser3972=)
c.2070A>C (p.Ser690=)
c.3272A>C
c.1260+357A>C
c.3087A>C
n.91A>C
c.11790A>C (p.Ser3930=)
n.5719A>C
c.11919A>C (p.Ser3973=)
2g.73601238A>GCA426783515ALMS1c.11535A>G (p.Ser3845=)
c.11167-947A>G (n.11167-947A>G)
c.4621A>G
c.8816A>G
c.5982A>G (p.Ser1994=)
c.9000A>G
c.11916A>G (p.Ser3972=)
c.2070A>G (p.Ser690=)
c.3272A>G
c.1260+357A>G
c.3087A>G
n.91A>G
c.11790A>G (p.Ser3930=)
n.5719A>G
c.11919A>G (p.Ser3973=)
2g.73601238A>TCA426783514ALMS1c.11535A>T (p.Ser3845=)
c.11167-947A>T (n.11167-947A>T)
c.4621A>T
c.8816A>T
c.5982A>T (p.Ser1994=)
c.9000A>T
c.11916A>T (p.Ser3972=)
c.2070A>T (p.Ser690=)
c.3272A>T
c.1260+357A>T
c.3087A>T
n.91A>T
c.11790A>T (p.Ser3930=)
n.5719A>T
c.11919A>T (p.Ser3973=)
2g.73601239A>CCA347265623ALMS1c.11536A>C (p.Lys3846Gln)
c.11167-946A>C (n.11167-946A>C)
c.4622A>C
c.8817A>C
c.5983A>C (p.Lys1995Gln)
c.9001A>C
c.11917A>C (p.Lys3973Gln)
c.2071A>C (p.Lys691Gln)
c.3273A>C
c.1260+358A>C
c.3088A>C
n.92A>C
c.11791A>C (p.Lys3931Gln)
n.5720A>C
c.11920A>C (p.Lys3974Gln)
2g.73601239A>GCA347265625ALMS1c.11536A>G (p.Lys3846Glu)
c.11167-946A>G (n.11167-946A>G)
c.4622A>G
c.8817A>G
c.5983A>G (p.Lys1995Glu)
c.9001A>G
c.11917A>G (p.Lys3973Glu)
c.2071A>G (p.Lys691Glu)
c.3273A>G
c.1260+358A>G
c.3088A>G
n.92A>G
c.11791A>G (p.Lys3931Glu)
n.5720A>G
c.11920A>G (p.Lys3974Glu)
2g.73601239A>TCA347265628ALMS1c.11536A>T (p.Lys3846Ter)
c.11167-946A>T (n.11167-946A>T)
c.4622A>T
c.8817A>T
c.5983A>T (p.Lys1995Ter)
c.9001A>T
c.11917A>T (p.Lys3973Ter)
c.2071A>T (p.Lys691Ter)
c.3273A>T
c.1260+358A>T
c.3088A>T
n.92A>T
c.11791A>T (p.Lys3931Ter)
n.5720A>T
c.11920A>T (p.Lys3974Ter)
2g.73601240A>CCA347265633ALMS1c.11537A>C (p.Lys3846Thr)
c.11167-945A>C (n.11167-945A>C)
c.4623A>C
c.8818A>C
c.5984A>C (p.Lys1995Thr)
c.9002A>C
c.11918A>C (p.Lys3973Thr)
c.2072A>C (p.Lys691Thr)
c.3274A>C
c.1260+359A>C
c.3089A>C
n.93A>C
c.11792A>C (p.Lys3931Thr)
n.5721A>C
c.11921A>C (p.Lys3974Thr)
2g.73601240A>GCA347265635ALMS1c.11537A>G (p.Lys3846Arg)
c.11167-945A>G (n.11167-945A>G)
c.4623A>G
c.8818A>G
c.5984A>G (p.Lys1995Arg)
c.9002A>G
c.11918A>G (p.Lys3973Arg)
c.2072A>G (p.Lys691Arg)
c.3274A>G
c.1260+359A>G
c.3089A>G
n.93A>G
c.11792A>G (p.Lys3931Arg)
n.5721A>G
c.11921A>G (p.Lys3974Arg)
 gnomAD v4
2g.73601240A>TCA347265637ALMS1c.11537A>T (p.Lys3846Met)
c.11167-945A>T (n.11167-945A>T)
c.4623A>T
c.8818A>T
c.5984A>T (p.Lys1995Met)
c.9002A>T
c.11918A>T (p.Lys3973Met)
c.2072A>T (p.Lys691Met)
c.3274A>T
c.1260+359A>T
c.3089A>T
n.93A>T
c.11792A>T (p.Lys3931Met)
n.5721A>T
c.11921A>T (p.Lys3974Met)
2g.73601241G>ACA426783517ALMS1c.11538G>A (p.Lys3846=)
c.11167-944G>A (n.11167-944G>A)
c.4624G>A
c.8819G>A
c.5985G>A (p.Lys1995=)
c.9003G>A
c.11919G>A (p.Lys3973=)
c.2073G>A (p.Lys691=)
c.3275G>A
c.1260+360G>A
c.3090G>A
n.94G>A
c.11793G>A (p.Lys3931=)
n.5722G>A
c.11922G>A (p.Lys3974=)
 gnomAD v4
2g.73601241G>CCA347265641ALMS1c.11538G>C (p.Lys3846Asn)
c.11167-944G>C (n.11167-944G>C)
c.4624G>C
c.8819G>C
c.5985G>C (p.Lys1995Asn)
c.9003G>C
c.11919G>C (p.Lys3973Asn)
c.2073G>C (p.Lys691Asn)
c.3275G>C
c.1260+360G>C
c.3090G>C
n.94G>C
c.11793G>C (p.Lys3931Asn)
n.5722G>C
c.11922G>C (p.Lys3974Asn)
2g.73601241G>TCA347265643ALMS1c.11538G>T (p.Lys3846Asn)
c.11167-944G>T (n.11167-944G>T)
c.4624G>T
c.8819G>T
c.5985G>T (p.Lys1995Asn)
c.9003G>T
c.11919G>T (p.Lys3973Asn)
c.2073G>T (p.Lys691Asn)
c.3275G>T
c.1260+360G>T
c.3090G>T
n.94G>T
c.11793G>T (p.Lys3931Asn)
n.5722G>T
c.11922G>T (p.Lys3974Asn)
2g.73601242A>CCA347265648ALMS1c.11539A>C (p.Lys3847Gln)
c.11167-943A>C (n.11167-943A>C)
c.4625A>C
c.8820A>C
c.5986A>C (p.Lys1996Gln)
c.9004A>C
c.11920A>C (p.Lys3974Gln)
c.2074A>C (p.Lys692Gln)
c.3276A>C
c.1260+361A>C
c.3091A>C
n.95A>C
c.11794A>C (p.Lys3932Gln)
n.5723A>C
c.11923A>C (p.Lys3975Gln)
2g.73601242A>GCA347265650ALMS1c.11539A>G (p.Lys3847Glu)
c.11167-943A>G (n.11167-943A>G)
c.4625A>G
c.8820A>G
c.5986A>G (p.Lys1996Glu)
c.9004A>G
c.11920A>G (p.Lys3974Glu)
c.2074A>G (p.Lys692Glu)
c.3276A>G
c.1260+361A>G
c.3091A>G
n.95A>G
c.11794A>G (p.Lys3932Glu)
n.5723A>G
c.11923A>G (p.Lys3975Glu)
2g.73601242A>TCA347265652ALMS1c.11539A>T (p.Lys3847Ter)
c.11167-943A>T (n.11167-943A>T)
c.4625A>T
c.8820A>T
c.5986A>T (p.Lys1996Ter)
c.9004A>T
c.11920A>T (p.Lys3974Ter)
c.2074A>T (p.Lys692Ter)
c.3276A>T
c.1260+361A>T
c.3091A>T
n.95A>T
c.11794A>T (p.Lys3932Ter)
n.5723A>T
c.11923A>T (p.Lys3975Ter)
2g.73601243A=CA1261033705ALMS1c.11540A= (p.Lys3847=)
c.11167-942A= (n.11167-942A=)
c.4626A=
c.8821A=
c.5987A= (p.Lys1996=)
c.9005A=
c.11921A= (p.Lys3974=)
c.2075A= (p.Lys692=)
c.3277A=
c.1260+362A=
c.3092A=
n.96A=
c.11795A= (p.Lys3932=)
n.5724A=
c.11924A= (p.Lys3975=)
2g.73601243A>CCA347265656ALMS1c.11540A>C (p.Lys3847Thr)
c.11167-942A>C (n.11167-942A>C)
c.4626A>C
c.8821A>C
c.5987A>C (p.Lys1996Thr)
c.9005A>C
c.11921A>C (p.Lys3974Thr)
c.2075A>C (p.Lys692Thr)
c.3277A>C
c.1260+362A>C
c.3092A>C
n.96A>C
c.11795A>C (p.Lys3932Thr)
n.5724A>C
c.11924A>C (p.Lys3975Thr)
2g.73601243A>GCA347265659ALMS1c.11540A>G (p.Lys3847Arg)
c.11167-942A>G (n.11167-942A>G)
c.4626A>G
c.8821A>G
c.5987A>G (p.Lys1996Arg)
c.9005A>G
c.11921A>G (p.Lys3974Arg)
c.2075A>G (p.Lys692Arg)
c.3277A>G
c.1260+362A>G
c.3092A>G
n.96A>G
c.11795A>G (p.Lys3932Arg)
n.5724A>G
c.11924A>G (p.Lys3975Arg)
2g.73601243A>TCA347265662ALMS1c.11540A>T (p.Lys3847Met)
c.11167-942A>T (n.11167-942A>T)
c.4626A>T
c.8821A>T
c.5987A>T (p.Lys1996Met)
c.9005A>T
c.11921A>T (p.Lys3974Met)
c.2075A>T (p.Lys692Met)
c.3277A>T
c.1260+362A>T
c.3092A>T
n.96A>T
c.11795A>T (p.Lys3932Met)
n.5724A>T
c.11924A>T (p.Lys3975Met)
 dbSNP gnomAD v3 gnomAD v4
2g.73601244G>ACA426783518ALMS1c.11541G>A (p.Lys3847=)
c.11167-941G>A (n.11167-941G>A)
c.4627G>A
c.8822G>A
c.5988G>A (p.Lys1996=)
c.9006G>A
c.11922G>A (p.Lys3974=)
c.2076G>A (p.Lys692=)
c.3278G>A
c.1260+363G>A
c.3093G>A
n.97G>A
c.11796G>A (p.Lys3932=)
n.5725G>A
c.11925G>A (p.Lys3975=)
2g.73601244G>CCA347265669ALMS1c.11541G>C (p.Lys3847Asn)
c.11167-941G>C (n.11167-941G>C)
c.4627G>C
c.8822G>C
c.5988G>C (p.Lys1996Asn)
c.9006G>C
c.11922G>C (p.Lys3974Asn)
c.2076G>C (p.Lys692Asn)
c.3278G>C
c.1260+363G>C
c.3093G>C
n.97G>C
c.11796G>C (p.Lys3932Asn)
n.5725G>C
c.11925G>C (p.Lys3975Asn)
2g.73601244G>TCA347265665ALMS1c.11541G>T (p.Lys3847Asn)
c.11167-941G>T (n.11167-941G>T)
c.4627G>T
c.8822G>T
c.5988G>T (p.Lys1996Asn)
c.9006G>T
c.11922G>T (p.Lys3974Asn)
c.2076G>T (p.Lys692Asn)
c.3278G>T
c.1260+363G>T
c.3093G>T
n.97G>T
c.11796G>T (p.Lys3932Asn)
n.5725G>T
c.11925G>T (p.Lys3975Asn)
2g.73601245G>ACA347265675ALMS1c.11542G>A (p.Glu3848Lys)
c.11167-940G>A (n.11167-940G>A)
c.4628G>A
c.8823G>A
c.5989G>A (p.Glu1997Lys)
c.9007G>A
c.11923G>A (p.Glu3975Lys)
c.2077G>A (p.Glu693Lys)
c.3279G>A
c.1260+364G>A
c.3094G>A
n.98G>A
c.11797G>A (p.Glu3933Lys)
n.5726G>A
c.11926G>A (p.Glu3976Lys)
 ClinVar dbSNP
2g.73601245G>CCA347265677ALMS1c.11542G>C (p.Glu3848Gln)
c.11167-940G>C (n.11167-940G>C)
c.4628G>C
c.8823G>C
c.5989G>C (p.Glu1997Gln)
c.9007G>C
c.11923G>C (p.Glu3975Gln)
c.2077G>C (p.Glu693Gln)
c.3279G>C
c.1260+364G>C
c.3094G>C
n.98G>C
c.11797G>C (p.Glu3933Gln)
n.5726G>C
c.11926G>C (p.Glu3976Gln)
2g.73601245G=CA1261033707ALMS1c.11542G= (p.Glu3848=)
c.11167-940G= (n.11167-940G=)
c.4628G=
c.8823G=
c.5989G= (p.Glu1997=)
c.9007G=
c.11923G= (p.Glu3975=)
c.2077G= (p.Glu693=)
c.3279G=
c.1260+364G=
c.3094G=
n.98G=
c.11797G= (p.Glu3933=)
n.5726G=
c.11926G= (p.Glu3976=)
2g.73601245G>TCA347265680ALMS1c.11542G>T (p.Glu3848Ter)
c.11167-940G>T (n.11167-940G>T)
c.4628G>T
c.8823G>T
c.5989G>T (p.Glu1997Ter)
c.9007G>T
c.11923G>T (p.Glu3975Ter)
c.2077G>T (p.Glu693Ter)
c.3279G>T
c.1260+364G>T
c.3094G>T
n.98G>T
c.11797G>T (p.Glu3933Ter)
n.5726G>T
c.11926G>T (p.Glu3976Ter)
2g.73601246A>CCA347265683ALMS1c.11543A>C (p.Glu3848Ala)
c.11167-939A>C (n.11167-939A>C)
c.4629A>C
c.8824A>C
c.5990A>C (p.Glu1997Ala)
c.9008A>C
c.11924A>C (p.Glu3975Ala)
c.2078A>C (p.Glu693Ala)
c.3280A>C
c.1260+365A>C
c.3095A>C
n.99A>C
c.11798A>C (p.Glu3933Ala)
n.5727A>C
c.11927A>C (p.Glu3976Ala)
2g.73601246A>GCA347265686ALMS1c.11543A>G (p.Glu3848Gly)
c.11167-939A>G (n.11167-939A>G)
c.4629A>G
c.8824A>G
c.5990A>G (p.Glu1997Gly)
c.9008A>G
c.11924A>G (p.Glu3975Gly)
c.2078A>G (p.Glu693Gly)
c.3280A>G
c.1260+365A>G
c.3095A>G
n.99A>G
c.11798A>G (p.Glu3933Gly)
n.5727A>G
c.11927A>G (p.Glu3976Gly)
2g.73601246A>TCA347265689ALMS1c.11543A>T (p.Glu3848Val)
c.11167-939A>T (n.11167-939A>T)
c.4629A>T
c.8824A>T
c.5990A>T (p.Glu1997Val)
c.9008A>T
c.11924A>T (p.Glu3975Val)
c.2078A>T (p.Glu693Val)
c.3280A>T
c.1260+365A>T
c.3095A>T
n.99A>T
c.11798A>T (p.Glu3933Val)
n.5727A>T
c.11927A>T (p.Glu3976Val)
2g.73601247A>CCA347265694ALMS1c.11544A>C (p.Glu3848Asp)
c.11167-938A>C (n.11167-938A>C)
c.4630A>C
c.8825A>C
c.5991A>C (p.Glu1997Asp)
c.9009A>C
c.11925A>C (p.Glu3975Asp)
c.2079A>C (p.Glu693Asp)
c.3281A>C
c.1260+366A>C
c.3096A>C
n.100A>C
c.11799A>C (p.Glu3933Asp)
n.5728A>C
c.11928A>C (p.Glu3976Asp)
2g.73601247A>GCA426783520ALMS1c.11544A>G (p.Glu3848=)
c.11167-938A>G (n.11167-938A>G)
c.4630A>G
c.8825A>G
c.5991A>G (p.Glu1997=)
c.9009A>G
c.11925A>G (p.Glu3975=)
c.2079A>G (p.Glu693=)
c.3281A>G
c.1260+366A>G
c.3096A>G
n.100A>G
c.11799A>G (p.Glu3933=)
n.5728A>G
c.11928A>G (p.Glu3976=)
 gnomAD v4
2g.73601247A>TCA347265692ALMS1c.11544A>T (p.Glu3848Asp)
c.11167-938A>T (n.11167-938A>T)
c.4630A>T
c.8825A>T
c.5991A>T (p.Glu1997Asp)
c.9009A>T
c.11925A>T (p.Glu3975Asp)
c.2079A>T (p.Glu693Asp)
c.3281A>T
c.1260+366A>T
c.3096A>T
n.100A>T
c.11799A>T (p.Glu3933Asp)
n.5728A>T
c.11928A>T (p.Glu3976Asp)
2g.73601247_73601248insCCA2556513835ALMS1c.11544_11545insC (p.Asn3849GlnfsTer4)
c.11167-938_11167-937insC (n.11167-938_11167-937insC)
c.4630_4631insC
c.8825_8826insC
c.5991_5992insC (p.Asn1998GlnfsTer4)
c.9009_9010insC
c.11925_11926insC (p.Asn3976GlnfsTer4)
c.2079_2080insC (p.Asn694GlnfsTer4)
c.3281_3282insC
c.1260+366_1260+367insC
c.3096_3097insC
n.100_101insC
c.11799_11800insC (p.Asn3934GlnfsTer4)
n.5728_5729insC
c.11928_11929insC (p.Asn3977GlnfsTer4)
2g.73601248A>CCA347265697ALMS1c.11545A>C (p.Asn3849His)
c.11167-937A>C (n.11167-937A>C)
c.4631A>C
c.8826A>C
c.5992A>C (p.Asn1998His)
c.9010A>C
c.11926A>C (p.Asn3976His)
c.2080A>C (p.Asn694His)
c.3282A>C
c.1260+367A>C
c.3097A>C
n.101A>C
c.11800A>C (p.Asn3934His)
n.5729A>C
c.11929A>C (p.Asn3977His)
2g.73601248A>GCA347265700ALMS1c.11545A>G (p.Asn3849Asp)
c.11167-937A>G (n.11167-937A>G)
c.4631A>G
c.8826A>G
c.5992A>G (p.Asn1998Asp)
c.9010A>G
c.11926A>G (p.Asn3976Asp)
c.2080A>G (p.Asn694Asp)
c.3282A>G
c.1260+367A>G
c.3097A>G
n.101A>G
c.11800A>G (p.Asn3934Asp)
n.5729A>G
c.11929A>G (p.Asn3977Asp)
2g.73601248A>TCA347265702ALMS1c.11545A>T (p.Asn3849Tyr)
c.11167-937A>T (n.11167-937A>T)
c.4631A>T
c.8826A>T
c.5992A>T (p.Asn1998Tyr)
c.9010A>T
c.11926A>T (p.Asn3976Tyr)
c.2080A>T (p.Asn694Tyr)
c.3282A>T
c.1260+367A>T
c.3097A>T
n.101A>T
c.11800A>T (p.Asn3934Tyr)
n.5729A>T
c.11929A>T (p.Asn3977Tyr)
2g.73601248_73601249insCAGATTTTTCCA2548958158ALMS1c.11545_11546insCAGATTTTTC (p.Asn3849ThrfsTer7)
c.11167-937_11167-936insCAGATTTTTC (n.11167-937_11167-936insCAGATTTTTC)
c.4631_4632insCAGATTTTTC
c.8826_8827insCAGATTTTTC
c.5992_5993insCAGATTTTTC (p.Asn1998ThrfsTer7)
c.9010_9011insCAGATTTTTC
c.11926_11927insCAGATTTTTC (p.Asn3976ThrfsTer7)
c.2080_2081insCAGATTTTTC (p.Asn694ThrfsTer7)
c.3282_3283insCAGATTTTTC
c.1260+367_1260+368insCAGATTTTTC
c.3097_3098insCAGATTTTTC
n.101_102insCAGATTTTTC
c.11800_11801insCAGATTTTTC (p.Asn3934ThrfsTer7)
n.5729_5730insCAGATTTTTC
c.11929_11930insCAGATTTTTC (p.Asn3977ThrfsTer7)
2g.73601249A>CCA347265706ALMS1c.11546A>C (p.Asn3849Thr)
c.11167-936A>C (n.11167-936A>C)
c.4632A>C
c.8827A>C
c.5993A>C (p.Asn1998Thr)
c.9011A>C
c.11927A>C (p.Asn3976Thr)
c.2081A>C (p.Asn694Thr)
c.3283A>C
c.1260+368A>C
c.3098A>C
n.102A>C
c.11801A>C (p.Asn3934Thr)
n.5730A>C
c.11930A>C (p.Asn3977Thr)
2g.73601249A>GCA347265709ALMS1c.11546A>G (p.Asn3849Ser)
c.11167-936A>G (n.11167-936A>G)
c.4632A>G
c.8827A>G
c.5993A>G (p.Asn1998Ser)
c.9011A>G
c.11927A>G (p.Asn3976Ser)
c.2081A>G (p.Asn694Ser)
c.3283A>G
c.1260+368A>G
c.3098A>G
n.102A>G
c.11801A>G (p.Asn3934Ser)
n.5730A>G
c.11930A>G (p.Asn3977Ser)
2g.73601249A>TCA347265711ALMS1c.11546A>T (p.Asn3849Ile)
c.11167-936A>T (n.11167-936A>T)
c.4632A>T
c.8827A>T
c.5993A>T (p.Asn1998Ile)
c.9011A>T
c.11927A>T (p.Asn3976Ile)
c.2081A>T (p.Asn694Ile)
c.3283A>T
c.1260+368A>T
c.3098A>T
n.102A>T
c.11801A>T (p.Asn3934Ile)
n.5730A>T
c.11930A>T (p.Asn3977Ile)
2g.73601250C>ACA1715382ALMS1c.11547C>A (p.Asn3849Lys)
c.11167-935C>A (n.11167-935C>A)
c.4633C>A
c.8828C>A
c.5994C>A (p.Asn1998Lys)
c.9012C>A
c.11928C>A (p.Asn3976Lys)
c.2082C>A (p.Asn694Lys)
c.3284C>A
c.1260+369C>A
c.3099C>A
n.103C>A
c.11802C>A (p.Asn3934Lys)
n.5731C>A
c.11931C>A (p.Asn3977Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601250C=CA1261033711ALMS1c.11547C= (p.Asn3849=)
c.11167-935C= (n.11167-935C=)
c.4633C=
c.8828C=
c.5994C= (p.Asn1998=)
c.9012C=
c.11928C= (p.Asn3976=)
c.2082C= (p.Asn694=)
c.3284C=
c.1260+369C=
c.3099C=
n.103C=
c.11802C= (p.Asn3934=)
n.5731C=
c.11931C= (p.Asn3977=)
2g.73601250C>GCA347265719ALMS1c.11547C>G (p.Asn3849Lys)
c.11167-935C>G (n.11167-935C>G)
c.4633C>G
c.8828C>G
c.5994C>G (p.Asn1998Lys)
c.9012C>G
c.11928C>G (p.Asn3976Lys)
c.2082C>G (p.Asn694Lys)
c.3284C>G
c.1260+369C>G
c.3099C>G
n.103C>G
c.11802C>G (p.Asn3934Lys)
n.5731C>G
c.11931C>G (p.Asn3977Lys)
2g.73601250C>TCA1715381ALMS1c.11547C>T (p.Asn3849=)
c.11167-935C>T (n.11167-935C>T)
c.4633C>T
c.8828C>T
c.5994C>T (p.Asn1998=)
c.9012C>T
c.11928C>T (p.Asn3976=)
c.2082C>T (p.Asn694=)
c.3284C>T
c.1260+369C>T
c.3099C>T
n.103C>T
c.11802C>T (p.Asn3934=)
n.5731C>T
c.11931C>T (p.Asn3977=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601251G>ACA1715383ALMS1c.11548G>A (p.Val3850Met)
c.11167-934G>A (n.11167-934G>A)
c.4634G>A
c.8829G>A
c.5995G>A (p.Val1999Met)
c.9013G>A
c.11929G>A (p.Val3977Met)
c.2083G>A (p.Val695Met)
c.3285G>A
c.1260+370G>A
c.3100G>A
n.104G>A
c.11803G>A (p.Val3935Met)
n.5732G>A
c.11932G>A (p.Val3978Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601251G>CCA347265726ALMS1c.11548G>C (p.Val3850Leu)
c.11167-934G>C (n.11167-934G>C)
c.4634G>C
c.8829G>C
c.5995G>C (p.Val1999Leu)
c.9013G>C
c.11929G>C (p.Val3977Leu)
c.2083G>C (p.Val695Leu)
c.3285G>C
c.1260+370G>C
c.3100G>C
n.104G>C
c.11803G>C (p.Val3935Leu)
n.5732G>C
c.11932G>C (p.Val3978Leu)
2g.73601251G=CA1261033715ALMS1c.11548G= (p.Val3850=)
c.11167-934G= (n.11167-934G=)
c.4634G=
c.8829G=
c.5995G= (p.Val1999=)
c.9013G=
c.11929G= (p.Val3977=)
c.2083G= (p.Val695=)
c.3285G=
c.1260+370G=
c.3100G=
n.104G=
c.11803G= (p.Val3935=)
n.5732G=
c.11932G= (p.Val3978=)
2g.73601251G>TCA347265728ALMS1c.11548G>T (p.Val3850Leu)
c.11167-934G>T (n.11167-934G>T)
c.4634G>T
c.8829G>T
c.5995G>T (p.Val1999Leu)
c.9013G>T
c.11929G>T (p.Val3977Leu)
c.2083G>T (p.Val695Leu)
c.3285G>T
c.1260+370G>T
c.3100G>T
n.104G>T
c.11803G>T (p.Val3935Leu)
n.5732G>T
c.11932G>T (p.Val3978Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.73601252T>ACA347265731ALMS1c.11549T>A (p.Val3850Glu)
c.11167-933T>A (n.11167-933T>A)
c.4635T>A
c.8830T>A
c.5996T>A (p.Val1999Glu)
c.9014T>A
c.11930T>A (p.Val3977Glu)
c.2084T>A (p.Val695Glu)
c.3286T>A
c.1260+371T>A
c.3101T>A
n.105T>A
c.11804T>A (p.Val3935Glu)
n.5733T>A
c.11933T>A (p.Val3978Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.73601252T>CCA347265735ALMS1c.11549T>C (p.Val3850Ala)
c.11167-933T>C (n.11167-933T>C)
c.4635T>C
c.8830T>C
c.5996T>C (p.Val1999Ala)
c.9014T>C
c.11930T>C (p.Val3977Ala)
c.2084T>C (p.Val695Ala)
c.3286T>C
c.1260+371T>C
c.3101T>C
n.105T>C
c.11804T>C (p.Val3935Ala)
n.5733T>C
c.11933T>C (p.Val3978Ala)
2g.73601252T>GCA347265737ALMS1c.11549T>G (p.Val3850Gly)
c.11167-933T>G (n.11167-933T>G)
c.4635T>G
c.8830T>G
c.5996T>G (p.Val1999Gly)
c.9014T>G
c.11930T>G (p.Val3977Gly)
c.2084T>G (p.Val695Gly)
c.3286T>G
c.1260+371T>G
c.3101T>G
n.105T>G
c.11804T>G (p.Val3935Gly)
n.5733T>G
c.11933T>G (p.Val3978Gly)
2g.73601252T=CA1261033718ALMS1c.11549T= (p.Val3850=)
c.11167-933T= (n.11167-933T=)
c.4635T=
c.8830T=
c.5996T= (p.Val1999=)
c.9014T=
c.11930T= (p.Val3977=)
c.2084T= (p.Val695=)
c.3286T=
c.1260+371T=
c.3101T=
n.105T=
c.11804T= (p.Val3935=)
n.5733T=
c.11933T= (p.Val3978=)
2g.73601253G>ACA1715384ALMS1c.11550G>A (p.Val3850=)
c.11167-932G>A (n.11167-932G>A)
c.4636G>A
c.8831G>A
c.5997G>A (p.Val1999=)
c.9015G>A
c.11931G>A (p.Val3977=)
c.2085G>A (p.Val695=)
c.3287G>A
c.1260+372G>A
c.3102G>A
n.106G>A
c.11805G>A (p.Val3935=)
n.5734G>A
c.11934G>A (p.Val3978=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601253G>CCA426783521ALMS1c.11550G>C (p.Val3850=)
c.11167-932G>C (n.11167-932G>C)
c.4636G>C
c.8831G>C
c.5997G>C (p.Val1999=)
c.9015G>C
c.11931G>C (p.Val3977=)
c.2085G>C (p.Val695=)
c.3287G>C
c.1260+372G>C
c.3102G>C
n.106G>C
c.11805G>C (p.Val3935=)
n.5734G>C
c.11934G>C (p.Val3978=)
2g.73601253G=CA1261033721ALMS1c.11550G= (p.Val3850=)
c.11167-932G= (n.11167-932G=)
c.4636G=
c.8831G=
c.5997G= (p.Val1999=)
c.9015G=
c.11931G= (p.Val3977=)
c.2085G= (p.Val695=)
c.3287G=
c.1260+372G=
c.3102G=
n.106G=
c.11805G= (p.Val3935=)
n.5734G=
c.11934G= (p.Val3978=)
2g.73601253G>TCA426783522ALMS1c.11550G>T (p.Val3850=)
c.11167-932G>T (n.11167-932G>T)
c.4636G>T
c.8831G>T
c.5997G>T (p.Val1999=)
c.9015G>T
c.11931G>T (p.Val3977=)
c.2085G>T (p.Val695=)
c.3287G>T
c.1260+372G>T
c.3102G>T
n.106G>T
c.11805G>T (p.Val3935=)
n.5734G>T
c.11934G>T (p.Val3978=)
 gnomAD v4
2g.73601254C>ACA347265743ALMS1c.11551C>A (p.Pro3851Thr)
c.11167-931C>A (n.11167-931C>A)
c.4637C>A
c.8832C>A
c.5998C>A (p.Pro2000Thr)
c.9016C>A
c.11932C>A (p.Pro3978Thr)
c.2086C>A (p.Pro696Thr)
c.3288C>A
c.1260+373C>A
c.3103C>A
n.107C>A
c.11806C>A (p.Pro3936Thr)
n.5735C>A
c.11935C>A (p.Pro3979Thr)
2g.73601254C>GCA347265748ALMS1c.11551C>G (p.Pro3851Ala)
c.11167-931C>G (n.11167-931C>G)
c.4637C>G
c.8832C>G
c.5998C>G (p.Pro2000Ala)
c.9016C>G
c.11932C>G (p.Pro3978Ala)
c.2086C>G (p.Pro696Ala)
c.3288C>G
c.1260+373C>G
c.3103C>G
n.107C>G
c.11806C>G (p.Pro3936Ala)
n.5735C>G
c.11935C>G (p.Pro3979Ala)
2g.73601254C>TCA347265745ALMS1c.11551C>T (p.Pro3851Ser)
c.11167-931C>T (n.11167-931C>T)
c.4637C>T
c.8832C>T
c.5998C>T (p.Pro2000Ser)
c.9016C>T
c.11932C>T (p.Pro3978Ser)
c.2086C>T (p.Pro696Ser)
c.3288C>T
c.1260+373C>T
c.3103C>T
n.107C>T
c.11806C>T (p.Pro3936Ser)
n.5735C>T
c.11935C>T (p.Pro3979Ser)
 dbSNP
2g.73601255C>ACA1715385ALMS1c.11552C>A (p.Pro3851His)
c.11167-930C>A (n.11167-930C>A)
c.4638C>A
c.8833C>A
c.5999C>A (p.Pro2000His)
c.9017C>A
c.11933C>A (p.Pro3978His)
c.2087C>A (p.Pro696His)
c.3289C>A
c.1260+374C>A
c.3104C>A
n.108C>A
c.11807C>A (p.Pro3936His)
n.5736C>A
c.11936C>A (p.Pro3979His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73601255C=CA1261033725ALMS1c.11552C= (p.Pro3851=)
c.11167-930C= (n.11167-930C=)
c.4638C=
c.8833C=
c.5999C= (p.Pro2000=)
c.9017C=
c.11933C= (p.Pro3978=)
c.2087C= (p.Pro696=)
c.3289C=
c.1260+374C=
c.3104C=
n.108C=
c.11807C= (p.Pro3936=)
n.5736C=
c.11936C= (p.Pro3979=)
2g.73601255C>GCA347265754ALMS1c.11552C>G (p.Pro3851Arg)
c.11167-930C>G (n.11167-930C>G)
c.4638C>G
c.8833C>G
c.5999C>G (p.Pro2000Arg)
c.9017C>G
c.11933C>G (p.Pro3978Arg)
c.2087C>G (p.Pro696Arg)
c.3289C>G
c.1260+374C>G
c.3104C>G
n.108C>G
c.11807C>G (p.Pro3936Arg)
n.5736C>G
c.11936C>G (p.Pro3979Arg)
2g.73601255C>TCA347265756ALMS1c.11552C>T (p.Pro3851Leu)
c.11167-930C>T (n.11167-930C>T)
c.4638C>T
c.8833C>T
c.5999C>T (p.Pro2000Leu)
c.9017C>T
c.11933C>T (p.Pro3978Leu)
c.2087C>T (p.Pro696Leu)
c.3289C>T
c.1260+374C>T
c.3104C>T
n.108C>T
c.11807C>T (p.Pro3936Leu)
n.5736C>T
c.11936C>T (p.Pro3979Leu)
 ClinVar
2g.73601256T>ACA426783523ALMS1c.11553T>A (p.Pro3851=)
c.11167-929T>A (n.11167-929T>A)
c.4639T>A
c.8834T>A
c.6000T>A (p.Pro2000=)
c.9018T>A
c.11934T>A (p.Pro3978=)
c.2088T>A (p.Pro696=)
c.3290T>A
c.1260+375T>A
c.3105T>A
n.109T>A
c.11808T>A (p.Pro3936=)
n.5737T>A
c.11937T>A (p.Pro3979=)
 dbSNP gnomAD v2 gnomAD v4
2g.73601256T>CCA426783524ALMS1c.11553T>C (p.Pro3851=)
c.11167-929T>C (n.11167-929T>C)
c.4639T>C
c.8834T>C
c.6000T>C (p.Pro2000=)
c.9018T>C
c.11934T>C (p.Pro3978=)
c.2088T>C (p.Pro696=)
c.3290T>C
c.1260+375T>C
c.3105T>C
n.109T>C
c.11808T>C (p.Pro3936=)
n.5737T>C
c.11937T>C (p.Pro3979=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73601256T>GCA1715386ALMS1c.11553T>G (p.Pro3851=)
c.11167-929T>G (n.11167-929T>G)
c.4639T>G
c.8834T>G
c.6000T>G (p.Pro2000=)
c.9018T>G
c.11934T>G (p.Pro3978=)
c.2088T>G (p.Pro696=)
c.3290T>G
c.1260+375T>G
c.3105T>G
n.109T>G
c.11808T>G (p.Pro3936=)
n.5737T>G
c.11937T>G (p.Pro3979=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601256T=CA1261033731ALMS1c.11553T= (p.Pro3851=)
c.11167-929T= (n.11167-929T=)
c.4639T=
c.8834T=
c.6000T= (p.Pro2000=)
c.9018T=
c.11934T= (p.Pro3978=)
c.2088T= (p.Pro696=)
c.3290T=
c.1260+375T=
c.3105T=
n.109T=
c.11808T= (p.Pro3936=)
n.5737T=
c.11937T= (p.Pro3979=)
2g.73601257A>CCA347265764ALMS1c.11554A>C (p.Asn3852His)
c.11167-928A>C (n.11167-928A>C)
c.4640A>C
c.8835A>C
c.6001A>C (p.Asn2001His)
c.9019A>C
c.11935A>C (p.Asn3979His)
c.2089A>C (p.Asn697His)
c.3291A>C
c.1260+376A>C
c.3106A>C
n.110A>C
c.11809A>C (p.Asn3937His)
n.5738A>C
c.11938A>C (p.Asn3980His)
2g.73601257A>GCA347265770ALMS1c.11554A>G (p.Asn3852Asp)
c.11167-928A>G (n.11167-928A>G)
c.4640A>G
c.8835A>G
c.6001A>G (p.Asn2001Asp)
c.9019A>G
c.11935A>G (p.Asn3979Asp)
c.2089A>G (p.Asn697Asp)
c.3291A>G
c.1260+376A>G
c.3106A>G
n.110A>G
c.11809A>G (p.Asn3937Asp)
n.5738A>G
c.11938A>G (p.Asn3980Asp)
2g.73601257A>TCA347265767ALMS1c.11554A>T (p.Asn3852Tyr)
c.11167-928A>T (n.11167-928A>T)
c.4640A>T
c.8835A>T
c.6001A>T (p.Asn2001Tyr)
c.9019A>T
c.11935A>T (p.Asn3979Tyr)
c.2089A>T (p.Asn697Tyr)
c.3291A>T
c.1260+376A>T
c.3106A>T
n.110A>T
c.11809A>T (p.Asn3937Tyr)
n.5738A>T
c.11938A>T (p.Asn3980Tyr)
 dbSNP
2g.73601258A=CA1261033739ALMS1c.11555A= (p.Asn3852=)
c.11167-927A= (n.11167-927A=)
c.4641A=
c.8836A=
c.6002A= (p.Asn2001=)
c.9020A=
c.11936A= (p.Asn3979=)
c.2090A= (p.Asn697=)
c.3292A=
c.1260+377A=
c.3107A=
n.111A=
c.11810A= (p.Asn3937=)
n.5739A=
c.11939A= (p.Asn3980=)
2g.73601258A>CCA347265775ALMS1c.11555A>C (p.Asn3852Thr)
c.11167-927A>C (n.11167-927A>C)
c.4641A>C
c.8836A>C
c.6002A>C (p.Asn2001Thr)
c.9020A>C
c.11936A>C (p.Asn3979Thr)
c.2090A>C (p.Asn697Thr)
c.3292A>C
c.1260+377A>C
c.3107A>C
n.111A>C
c.11810A>C (p.Asn3937Thr)
n.5739A>C
c.11939A>C (p.Asn3980Thr)
2g.73601258A>GCA1715387ALMS1c.11555A>G (p.Asn3852Ser)
c.11167-927A>G (n.11167-927A>G)
c.4641A>G
c.8836A>G
c.6002A>G (p.Asn2001Ser)
c.9020A>G
c.11936A>G (p.Asn3979Ser)
c.2090A>G (p.Asn697Ser)
c.3292A>G
c.1260+377A>G
c.3107A>G
n.111A>G
c.11810A>G (p.Asn3937Ser)
n.5739A>G
c.11939A>G (p.Asn3980Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73601258A>TCA347265781ALMS1c.11555A>T (p.Asn3852Ile)
c.11167-927A>T (n.11167-927A>T)
c.4641A>T
c.8836A>T
c.6002A>T (p.Asn2001Ile)
c.9020A>T
c.11936A>T (p.Asn3979Ile)
c.2090A>T (p.Asn697Ile)
c.3292A>T
c.1260+377A>T
c.3107A>T
n.111A>T
c.11810A>T (p.Asn3937Ile)
n.5739A>T
c.11939A>T (p.Asn3980Ile)
2g.73601259C>ACA347265785ALMS1c.11556C>A (p.Asn3852Lys)
c.11167-926C>A (n.11167-926C>A)
c.4642C>A
c.8837C>A
c.6003C>A (p.Asn2001Lys)
c.9021C>A
c.11937C>A (p.Asn3979Lys)
c.2091C>A (p.Asn697Lys)
c.3293C>A
c.1260+378C>A
c.3108C>A
n.112C>A
c.11811C>A (p.Asn3937Lys)
n.5740C>A
c.11940C>A (p.Asn3980Lys)
 gnomAD v4
2g.73601259C=CA1261033742ALMS1c.11556C= (p.Asn3852=)
c.11167-926C= (n.11167-926C=)
c.4642C=
c.8837C=
c.6003C= (p.Asn2001=)
c.9021C=
c.11937C= (p.Asn3979=)
c.2091C= (p.Asn697=)
c.3293C=
c.1260+378C=
c.3108C=
n.112C=
c.11811C= (p.Asn3937=)
n.5740C=
c.11940C= (p.Asn3980=)
2g.73601259C>GCA347265787ALMS1c.11556C>G (p.Asn3852Lys)
c.11167-926C>G (n.11167-926C>G)
c.4642C>G
c.8837C>G
c.6003C>G (p.Asn2001Lys)
c.9021C>G
c.11937C>G (p.Asn3979Lys)
c.2091C>G (p.Asn697Lys)
c.3293C>G
c.1260+378C>G
c.3108C>G
n.112C>G
c.11811C>G (p.Asn3937Lys)
n.5740C>G
c.11940C>G (p.Asn3980Lys)
 gnomAD v4
2g.73601259C>TCA426783525ALMS1c.11556C>T (p.Asn3852=)
c.11167-926C>T (n.11167-926C>T)
c.4642C>T
c.8837C>T
c.6003C>T (p.Asn2001=)
c.9021C>T
c.11937C>T (p.Asn3979=)
c.2091C>T (p.Asn697=)
c.3293C>T
c.1260+378C>T
c.3108C>T
n.112C>T
c.11811C>T (p.Asn3937=)
n.5740C>T
c.11940C>T (p.Asn3980=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73601260A>CCA347265791ALMS1c.11557A>C (p.Thr3853Pro)
c.11167-925A>C (n.11167-925A>C)
c.4643A>C
c.8838A>C
c.6004A>C (p.Thr2002Pro)
c.9022A>C
c.11938A>C (p.Thr3980Pro)
c.2092A>C (p.Thr698Pro)
c.3294A>C
c.1260+379A>C
c.3109A>C
n.113A>C
c.11812A>C (p.Thr3938Pro)
n.5741A>C
c.11941A>C (p.Thr3981Pro)
2g.73601260A>GCA347265794ALMS1c.11557A>G (p.Thr3853Ala)
c.11167-925A>G (n.11167-925A>G)
c.4643A>G
c.8838A>G
c.6004A>G (p.Thr2002Ala)
c.9022A>G
c.11938A>G (p.Thr3980Ala)
c.2092A>G (p.Thr698Ala)
c.3294A>G
c.1260+379A>G
c.3109A>G
n.113A>G
c.11812A>G (p.Thr3938Ala)
n.5741A>G
c.11941A>G (p.Thr3981Ala)
 gnomAD v4
2g.73601260A>TCA347265798ALMS1c.11557A>T (p.Thr3853Ser)
c.11167-925A>T (n.11167-925A>T)
c.4643A>T
c.8838A>T
c.6004A>T (p.Thr2002Ser)
c.9022A>T
c.11938A>T (p.Thr3980Ser)
c.2092A>T (p.Thr698Ser)
c.3294A>T
c.1260+379A>T
c.3109A>T
n.113A>T
c.11812A>T (p.Thr3938Ser)
n.5741A>T
c.11941A>T (p.Thr3981Ser)
2g.73601261C>ACA347265803ALMS1c.11558C>A (p.Thr3853Asn)
c.11167-924C>A (n.11167-924C>A)
c.4644C>A
c.8839C>A
c.6005C>A (p.Thr2002Asn)
c.9023C>A
c.11939C>A (p.Thr3980Asn)
c.2093C>A (p.Thr698Asn)
c.3295C>A
c.1260+380C>A
c.3110C>A
n.114C>A
c.11813C>A (p.Thr3938Asn)
n.5742C>A
c.11942C>A (p.Thr3981Asn)
2g.73601261C=CA1261033747ALMS1c.11558C= (p.Thr3853=)
c.11167-924C= (n.11167-924C=)
c.4644C=
c.8839C=
c.6005C= (p.Thr2002=)
c.9023C=
c.11939C= (p.Thr3980=)
c.2093C= (p.Thr698=)
c.3295C=
c.1260+380C=
c.3110C=
n.114C=
c.11813C= (p.Thr3938=)
n.5742C=
c.11942C= (p.Thr3981=)
2g.73601261C>GCA347265806ALMS1c.11558C>G (p.Thr3853Ser)
c.11167-924C>G (n.11167-924C>G)
c.4644C>G
c.8839C>G
c.6005C>G (p.Thr2002Ser)
c.9023C>G
c.11939C>G (p.Thr3980Ser)
c.2093C>G (p.Thr698Ser)
c.3295C>G
c.1260+380C>G
c.3110C>G
n.114C>G
c.11813C>G (p.Thr3938Ser)
n.5742C>G
c.11942C>G (p.Thr3981Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.73601261C>TCA1715388ALMS1c.11558C>T (p.Thr3853Ile)
c.11167-924C>T (n.11167-924C>T)
c.4644C>T
c.8839C>T
c.6005C>T (p.Thr2002Ile)
c.9023C>T
c.11939C>T (p.Thr3980Ile)
c.2093C>T (p.Thr698Ile)
c.3295C>T
c.1260+380C>T
c.3110C>T
n.114C>T
c.11813C>T (p.Thr3938Ile)
n.5742C>T
c.11942C>T (p.Thr3981Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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=)

Number of alleles fetched