Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73489734C>ACA347264038ALMS1c.7394C>A (p.Ser2465Tyr)
c.786C>A
c.4846C>A
c.1841C>A (p.Ser614Tyr)
c.7775C>A (p.Ser2592Tyr)
c.896-30041C>A
c.2606C>A (p.Ser869Tyr)
c.7649C>A (p.Ser2550Tyr)
n.1578C>A
c.7778C>A (p.Ser2593Tyr)
2g.73489734C>GCA347264040ALMS1c.7394C>G (p.Ser2465Cys)
c.786C>G
c.4846C>G
c.1841C>G (p.Ser614Cys)
c.7775C>G (p.Ser2592Cys)
c.896-30041C>G
c.2606C>G (p.Ser869Cys)
c.7649C>G (p.Ser2550Cys)
n.1578C>G
c.7778C>G (p.Ser2593Cys)
2g.73489734C>TCA347264039ALMS1c.7394C>T (p.Ser2465Phe)
c.786C>T
c.4846C>T
c.1841C>T (p.Ser614Phe)
c.7775C>T (p.Ser2592Phe)
c.896-30041C>T
c.2606C>T (p.Ser869Phe)
c.7649C>T (p.Ser2550Phe)
n.1578C>T
c.7778C>T (p.Ser2593Phe)
2g.73489735T>ACA426765621ALMS1c.7395T>A (p.Ser2465=)
c.787T>A
c.4847T>A
c.1842T>A (p.Ser614=)
c.7776T>A (p.Ser2592=)
c.896-30040T>A
c.2607T>A (p.Ser869=)
c.7650T>A (p.Ser2550=)
n.1579T>A
c.7779T>A (p.Ser2593=)
2g.73489735T>CCA426765627ALMS1c.7395T>C (p.Ser2465=)
c.787T>C
c.4847T>C
c.1842T>C (p.Ser614=)
c.7776T>C (p.Ser2592=)
c.896-30040T>C
c.2607T>C (p.Ser869=)
c.7650T>C (p.Ser2550=)
n.1579T>C
c.7779T>C (p.Ser2593=)
2g.73489735T>GCA426765625ALMS1c.7395T>G (p.Ser2465=)
c.787T>G
c.4847T>G
c.1842T>G (p.Ser614=)
c.7776T>G (p.Ser2592=)
c.896-30040T>G
c.2607T>G (p.Ser869=)
c.7650T>G (p.Ser2550=)
n.1579T>G
c.7779T>G (p.Ser2593=)
 dbSNP gnomAD v3 gnomAD v4
2g.73489735T=CA1260981132ALMS1c.7395T= (p.Ser2465=)
c.787T=
c.4847T=
c.1842T= (p.Ser614=)
c.7776T= (p.Ser2592=)
c.896-30040T=
c.2607T= (p.Ser869=)
c.7650T= (p.Ser2550=)
n.1579T=
c.7779T= (p.Ser2593=)
2g.73489736G>ACA347264041ALMS1c.7396G>A (p.Glu2466Lys)
c.788G>A
c.4848G>A
c.1843G>A (p.Glu615Lys)
c.7777G>A (p.Glu2593Lys)
c.896-30039G>A
c.2608G>A (p.Glu870Lys)
c.7651G>A (p.Glu2551Lys)
n.1580G>A
c.7780G>A (p.Glu2594Lys)
2g.73489736G>CCA347264042ALMS1c.7396G>C (p.Glu2466Gln)
c.788G>C
c.4848G>C
c.1843G>C (p.Glu615Gln)
c.7777G>C (p.Glu2593Gln)
c.896-30039G>C
c.2608G>C (p.Glu870Gln)
c.7651G>C (p.Glu2551Gln)
n.1580G>C
c.7780G>C (p.Glu2594Gln)
2g.73489736G>TCA347264043ALMS1c.7396G>T (p.Glu2466Ter)
c.788G>T
c.4848G>T
c.1843G>T (p.Glu615Ter)
c.7777G>T (p.Glu2593Ter)
c.896-30039G>T
c.2608G>T (p.Glu870Ter)
c.7651G>T (p.Glu2551Ter)
n.1580G>T
c.7780G>T (p.Glu2594Ter)
 ClinVar
2g.73489737A>CCA347264044ALMS1c.7397A>C (p.Glu2466Ala)
c.789A>C
c.4849A>C
c.1844A>C (p.Glu615Ala)
c.7778A>C (p.Glu2593Ala)
c.896-30038A>C
c.2609A>C (p.Glu870Ala)
c.7652A>C (p.Glu2551Ala)
n.1581A>C
c.7781A>C (p.Glu2594Ala)
2g.73489737A>GCA347264045ALMS1c.7397A>G (p.Glu2466Gly)
c.789A>G
c.4849A>G
c.1844A>G (p.Glu615Gly)
c.7778A>G (p.Glu2593Gly)
c.896-30038A>G
c.2609A>G (p.Glu870Gly)
c.7652A>G (p.Glu2551Gly)
n.1581A>G
c.7781A>G (p.Glu2594Gly)
2g.73489737A>TCA347264046ALMS1c.7397A>T (p.Glu2466Val)
c.789A>T
c.4849A>T
c.1844A>T (p.Glu615Val)
c.7778A>T (p.Glu2593Val)
c.896-30038A>T
c.2609A>T (p.Glu870Val)
c.7652A>T (p.Glu2551Val)
n.1581A>T
c.7781A>T (p.Glu2594Val)
2g.73489738A>CCA347264047ALMS1c.7398A>C (p.Glu2466Asp)
c.790A>C
c.4850A>C
c.1845A>C (p.Glu615Asp)
c.7779A>C (p.Glu2593Asp)
c.896-30037A>C
c.2610A>C (p.Glu870Asp)
c.7653A>C (p.Glu2551Asp)
n.1582A>C
c.7782A>C (p.Glu2594Asp)
2g.73489738A>GCA426765640ALMS1c.7398A>G (p.Glu2466=)
c.790A>G
c.4850A>G
c.1845A>G (p.Glu615=)
c.7779A>G (p.Glu2593=)
c.896-30037A>G
c.2610A>G (p.Glu870=)
c.7653A>G (p.Glu2551=)
n.1582A>G
c.7782A>G (p.Glu2594=)
 gnomAD v4
2g.73489738A>TCA347264048ALMS1c.7398A>T (p.Glu2466Asp)
c.790A>T
c.4850A>T
c.1845A>T (p.Glu615Asp)
c.7779A>T (p.Glu2593Asp)
c.896-30037A>T
c.2610A>T (p.Glu870Asp)
c.7653A>T (p.Glu2551Asp)
n.1582A>T
c.7782A>T (p.Glu2594Asp)
2g.73489739C>ACA347264049ALMS1c.7399C>A (p.His2467Asn)
c.791C>A
c.4851C>A
c.1846C>A (p.His616Asn)
c.7780C>A (p.His2594Asn)
c.896-30036C>A
c.2611C>A (p.His871Asn)
c.7654C>A (p.His2552Asn)
n.1583C>A
c.7783C>A (p.His2595Asn)
2g.73489739C=CA1260981133ALMS1c.7399C= (p.His2467=)
c.791C=
c.4851C=
c.1846C= (p.His616=)
c.7780C= (p.His2594=)
c.896-30036C=
c.2611C= (p.His871=)
c.7654C= (p.His2552=)
n.1583C=
c.7783C= (p.His2595=)
2g.73489739C>GCA347264050ALMS1c.7399C>G (p.His2467Asp)
c.791C>G
c.4851C>G
c.1846C>G (p.His616Asp)
c.7780C>G (p.His2594Asp)
c.896-30036C>G
c.2611C>G (p.His871Asp)
c.7654C>G (p.His2552Asp)
n.1583C>G
c.7783C>G (p.His2595Asp)
2g.73489739C>TCA1714348ALMS1c.7399C>T (p.His2467Tyr)
c.791C>T
c.4851C>T
c.1846C>T (p.His616Tyr)
c.7780C>T (p.His2594Tyr)
c.896-30036C>T
c.2611C>T (p.His871Tyr)
c.7654C>T (p.His2552Tyr)
n.1583C>T
c.7783C>T (p.His2595Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489740A=CA1260981134ALMS1c.7400A= (p.His2467=)
c.792A=
c.4852A=
c.1847A= (p.His616=)
c.7781A= (p.His2594=)
c.896-30035A=
c.2612A= (p.His871=)
c.7655A= (p.His2552=)
n.1584A=
c.7784A= (p.His2595=)
2g.73489740A>CCA347264052ALMS1c.7400A>C (p.His2467Pro)
c.792A>C
c.4852A>C
c.1847A>C (p.His616Pro)
c.7781A>C (p.His2594Pro)
c.896-30035A>C
c.2612A>C (p.His871Pro)
c.7655A>C (p.His2552Pro)
n.1584A>C
c.7784A>C (p.His2595Pro)
2g.73489740A>GCA347264051ALMS1c.7400A>G (p.His2467Arg)
c.792A>G
c.4852A>G
c.1847A>G (p.His616Arg)
c.7781A>G (p.His2594Arg)
c.896-30035A>G
c.2612A>G (p.His871Arg)
c.7655A>G (p.His2552Arg)
n.1584A>G
c.7784A>G (p.His2595Arg)
 gnomAD v4
2g.73489740A>TCA50377462ALMS1c.7400A>T (p.His2467Leu)
c.792A>T
c.4852A>T
c.1847A>T (p.His616Leu)
c.7781A>T (p.His2594Leu)
c.896-30035A>T
c.2612A>T (p.His871Leu)
c.7655A>T (p.His2552Leu)
n.1584A>T
c.7784A>T (p.His2595Leu)
 dbSNP
2g.73489741T>ACA347264053ALMS1c.7401T>A (p.His2467Gln)
c.793T>A
c.4853T>A
c.1848T>A (p.His616Gln)
c.7782T>A (p.His2594Gln)
c.896-30034T>A
c.2613T>A (p.His871Gln)
c.7656T>A (p.His2552Gln)
n.1585T>A
c.7785T>A (p.His2595Gln)
2g.73489741T>CCA50377466ALMS1c.7401T>C (p.His2467=)
c.793T>C
c.4853T>C
c.1848T>C (p.His616=)
c.7782T>C (p.His2594=)
c.896-30034T>C
c.2613T>C (p.His871=)
c.7656T>C (p.His2552=)
n.1585T>C
c.7785T>C (p.His2595=)
 dbSNP gnomAD v3 gnomAD v4
2g.73489741T>GCA347264054ALMS1c.7401T>G (p.His2467Gln)
c.793T>G
c.4853T>G
c.1848T>G (p.His616Gln)
c.7782T>G (p.His2594Gln)
c.896-30034T>G
c.2613T>G (p.His871Gln)
c.7656T>G (p.His2552Gln)
n.1585T>G
c.7785T>G (p.His2595Gln)
2g.73489741T=CA1260981135ALMS1c.7401T= (p.His2467=)
c.793T=
c.4853T=
c.1848T= (p.His616=)
c.7782T= (p.His2594=)
c.896-30034T=
c.2613T= (p.His871=)
c.7656T= (p.His2552=)
n.1585T=
c.7785T= (p.His2595=)
2g.73489742C>ACA347264055ALMS1c.7402C>A (p.Pro2468Thr)
c.794C>A
c.4854C>A
c.1849C>A (p.Pro617Thr)
c.7783C>A (p.Pro2595Thr)
c.896-30033C>A
c.2614C>A (p.Pro872Thr)
c.7657C>A (p.Pro2553Thr)
n.1586C>A
c.7786C>A (p.Pro2596Thr)
2g.73489742C>GCA347264056ALMS1c.7402C>G (p.Pro2468Ala)
c.794C>G
c.4854C>G
c.1849C>G (p.Pro617Ala)
c.7783C>G (p.Pro2595Ala)
c.896-30033C>G
c.2614C>G (p.Pro872Ala)
c.7657C>G (p.Pro2553Ala)
n.1586C>G
c.7786C>G (p.Pro2596Ala)
2g.73489742C>TCA347264057ALMS1c.7402C>T (p.Pro2468Ser)
c.794C>T
c.4854C>T
c.1849C>T (p.Pro617Ser)
c.7783C>T (p.Pro2595Ser)
c.896-30033C>T
c.2614C>T (p.Pro872Ser)
c.7657C>T (p.Pro2553Ser)
n.1586C>T
c.7786C>T (p.Pro2596Ser)
2g.73489743C>ACA347264058ALMS1c.7403C>A (p.Pro2468Gln)
c.795C>A
c.4855C>A
c.1850C>A (p.Pro617Gln)
c.7784C>A (p.Pro2595Gln)
c.896-30032C>A
c.2615C>A (p.Pro872Gln)
c.7658C>A (p.Pro2553Gln)
n.1587C>A
c.7787C>A (p.Pro2596Gln)
2g.73489743C>GCA347264059ALMS1c.7403C>G (p.Pro2468Arg)
c.795C>G
c.4855C>G
c.1850C>G (p.Pro617Arg)
c.7784C>G (p.Pro2595Arg)
c.896-30032C>G
c.2615C>G (p.Pro872Arg)
c.7658C>G (p.Pro2553Arg)
n.1587C>G
c.7787C>G (p.Pro2596Arg)
2g.73489743C>TCA347264060ALMS1c.7403C>T (p.Pro2468Leu)
c.795C>T
c.4855C>T
c.1850C>T (p.Pro617Leu)
c.7784C>T (p.Pro2595Leu)
c.896-30032C>T
c.2615C>T (p.Pro872Leu)
c.7658C>T (p.Pro2553Leu)
n.1587C>T
c.7787C>T (p.Pro2596Leu)
2g.73489744A=CA1260981136ALMS1c.7404A= (p.Pro2468=)
c.796A=
c.4856A=
c.1851A= (p.Pro617=)
c.7785A= (p.Pro2595=)
c.896-30031A=
c.2616A= (p.Pro872=)
c.7659A= (p.Pro2553=)
n.1588A=
c.7788A= (p.Pro2596=)
2g.73489744A>CCA426765670ALMS1c.7404A>C (p.Pro2468=)
c.796A>C
c.4856A>C
c.1851A>C (p.Pro617=)
c.7785A>C (p.Pro2595=)
c.896-30031A>C
c.2616A>C (p.Pro872=)
c.7659A>C (p.Pro2553=)
n.1588A>C
c.7788A>C (p.Pro2596=)
2g.73489744A>GCA1714349ALMS1c.7404A>G (p.Pro2468=)
c.796A>G
c.4856A>G
c.1851A>G (p.Pro617=)
c.7785A>G (p.Pro2595=)
c.896-30031A>G
c.2616A>G (p.Pro872=)
c.7659A>G (p.Pro2553=)
n.1588A>G
c.7788A>G (p.Pro2596=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489744A>TCA426765672ALMS1c.7404A>T (p.Pro2468=)
c.796A>T
c.4856A>T
c.1851A>T (p.Pro617=)
c.7785A>T (p.Pro2595=)
c.896-30031A>T
c.2616A>T (p.Pro872=)
c.7659A>T (p.Pro2553=)
n.1588A>T
c.7788A>T (p.Pro2596=)
2g.73489745C>ACA347264061ALMS1c.7405C>A (p.Gln2469Lys)
c.797C>A
c.4857C>A
c.1852C>A (p.Gln618Lys)
c.7786C>A (p.Gln2596Lys)
c.896-30030C>A
c.2617C>A (p.Gln873Lys)
c.7660C>A (p.Gln2554Lys)
n.1589C>A
c.7789C>A (p.Gln2597Lys)
2g.73489745C=CA1260981137ALMS1c.7405C= (p.Gln2469=)
c.797C=
c.4857C=
c.1852C= (p.Gln618=)
c.7786C= (p.Gln2596=)
c.896-30030C=
c.2617C= (p.Gln873=)
c.7660C= (p.Gln2554=)
n.1589C=
c.7789C= (p.Gln2597=)
2g.73489745C>GCA347264062ALMS1c.7405C>G (p.Gln2469Glu)
c.797C>G
c.4857C>G
c.1852C>G (p.Gln618Glu)
c.7786C>G (p.Gln2596Glu)
c.896-30030C>G
c.2617C>G (p.Gln873Glu)
c.7660C>G (p.Gln2554Glu)
n.1589C>G
c.7789C>G (p.Gln2597Glu)
2g.73489745C>TCA347264063ALMS1c.7405C>T (p.Gln2469Ter)
c.797C>T
c.4857C>T
c.1852C>T (p.Gln618Ter)
c.7786C>T (p.Gln2596Ter)
c.896-30030C>T
c.2617C>T (p.Gln873Ter)
c.7660C>T (p.Gln2554Ter)
n.1589C>T
c.7789C>T (p.Gln2597Ter)
 ClinVar dbSNP
2g.73489746A>CCA347264066ALMS1c.7406A>C (p.Gln2469Pro)
c.798A>C
c.4858A>C
c.1853A>C (p.Gln618Pro)
c.7787A>C (p.Gln2596Pro)
c.896-30029A>C
c.2618A>C (p.Gln873Pro)
c.7661A>C (p.Gln2554Pro)
n.1590A>C
c.7790A>C (p.Gln2597Pro)
2g.73489746A>GCA347264065ALMS1c.7406A>G (p.Gln2469Arg)
c.798A>G
c.4858A>G
c.1853A>G (p.Gln618Arg)
c.7787A>G (p.Gln2596Arg)
c.896-30029A>G
c.2618A>G (p.Gln873Arg)
c.7661A>G (p.Gln2554Arg)
n.1590A>G
c.7790A>G (p.Gln2597Arg)
2g.73489746A>TCA347264064ALMS1c.7406A>T (p.Gln2469Leu)
c.798A>T
c.4858A>T
c.1853A>T (p.Gln618Leu)
c.7787A>T (p.Gln2596Leu)
c.896-30029A>T
c.2618A>T (p.Gln873Leu)
c.7661A>T (p.Gln2554Leu)
n.1590A>T
c.7790A>T (p.Gln2597Leu)
2g.73489747A=CA1260981138ALMS1c.7407A= (p.Gln2469=)
c.799A=
c.4859A=
c.1854A= (p.Gln618=)
c.7788A= (p.Gln2596=)
c.896-30028A=
c.2619A= (p.Gln873=)
c.7662A= (p.Gln2554=)
n.1591A=
c.7791A= (p.Gln2597=)
2g.73489747A>CCA1714350ALMS1c.7407A>C (p.Gln2469His)
c.799A>C
c.4859A>C
c.1854A>C (p.Gln618His)
c.7788A>C (p.Gln2596His)
c.896-30028A>C
c.2619A>C (p.Gln873His)
c.7662A>C (p.Gln2554His)
n.1591A>C
c.7791A>C (p.Gln2597His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489747A>GCA426765678ALMS1c.7407A>G (p.Gln2469=)
c.799A>G
c.4859A>G
c.1854A>G (p.Gln618=)
c.7788A>G (p.Gln2596=)
c.896-30028A>G
c.2619A>G (p.Gln873=)
c.7662A>G (p.Gln2554=)
n.1591A>G
c.7791A>G (p.Gln2597=)
 ClinVar gnomAD v4
2g.73489747A>TCA347264067ALMS1c.7407A>T (p.Gln2469His)
c.799A>T
c.4859A>T
c.1854A>T (p.Gln618His)
c.7788A>T (p.Gln2596His)
c.896-30028A>T
c.2619A>T (p.Gln873His)
c.7662A>T (p.Gln2554His)
n.1591A>T
c.7791A>T (p.Gln2597His)
 gnomAD v4
2g.73489748C>ACA347264068ALMS1c.7408C>A (p.Leu2470Ile)
c.800C>A
c.4860C>A
c.1855C>A (p.Leu619Ile)
c.7789C>A (p.Leu2597Ile)
c.896-30027C>A
c.2620C>A (p.Leu874Ile)
c.7663C>A (p.Leu2555Ile)
n.1592C>A
c.7792C>A (p.Leu2598Ile)
2g.73489748C>GCA347264069ALMS1c.7408C>G (p.Leu2470Val)
c.800C>G
c.4860C>G
c.1855C>G (p.Leu619Val)
c.7789C>G (p.Leu2597Val)
c.896-30027C>G
c.2620C>G (p.Leu874Val)
c.7663C>G (p.Leu2555Val)
n.1592C>G
c.7792C>G (p.Leu2598Val)
2g.73489748C>TCA426765681ALMS1c.7408C>T (p.Leu2470=)
c.800C>T
c.4860C>T
c.1855C>T (p.Leu619=)
c.7789C>T (p.Leu2597=)
c.896-30027C>T
c.2620C>T (p.Leu874=)
c.7663C>T (p.Leu2555=)
n.1592C>T
c.7792C>T (p.Leu2598=)
 ClinVar
2g.73489749T>ACA347264070ALMS1c.7409T>A (p.Leu2470Gln)
c.801T>A
c.4861T>A
c.1856T>A (p.Leu619Gln)
c.7790T>A (p.Leu2597Gln)
c.896-30026T>A
c.2621T>A (p.Leu874Gln)
c.7664T>A (p.Leu2555Gln)
n.1593T>A
c.7793T>A (p.Leu2598Gln)
2g.73489749T>CCA347264072ALMS1c.7409T>C (p.Leu2470Pro)
c.801T>C
c.4861T>C
c.1856T>C (p.Leu619Pro)
c.7790T>C (p.Leu2597Pro)
c.896-30026T>C
c.2621T>C (p.Leu874Pro)
c.7664T>C (p.Leu2555Pro)
n.1593T>C
c.7793T>C (p.Leu2598Pro)
2g.73489749T>GCA347264071ALMS1c.7409T>G (p.Leu2470Arg)
c.801T>G
c.4861T>G
c.1856T>G (p.Leu619Arg)
c.7790T>G (p.Leu2597Arg)
c.896-30026T>G
c.2621T>G (p.Leu874Arg)
c.7664T>G (p.Leu2555Arg)
n.1593T>G
c.7793T>G (p.Leu2598Arg)
 dbSNP
2g.73489749T=CA1260981139ALMS1c.7409T= (p.Leu2470=)
c.801T=
c.4861T=
c.1856T= (p.Leu619=)
c.7790T= (p.Leu2597=)
c.896-30026T=
c.2621T= (p.Leu874=)
c.7664T= (p.Leu2555=)
n.1593T=
c.7793T= (p.Leu2598=)
2g.73489750A=CA1260981140ALMS1c.7410A= (p.Leu2470=)
c.802A=
c.4862A=
c.1857A= (p.Leu619=)
c.7791A= (p.Leu2597=)
c.896-30025A=
c.2622A= (p.Leu874=)
c.7665A= (p.Leu2555=)
n.1594A=
c.7794A= (p.Leu2598=)
2g.73489750A>CCA50377479ALMS1c.7410A>C (p.Leu2470=)
c.802A>C
c.4862A>C
c.1857A>C (p.Leu619=)
c.7791A>C (p.Leu2597=)
c.896-30025A>C
c.2622A>C (p.Leu874=)
c.7665A>C (p.Leu2555=)
n.1594A>C
c.7794A>C (p.Leu2598=)
 dbSNP
2g.73489750A>GCA1714351ALMS1c.7410A>G (p.Leu2470=)
c.802A>G
c.4862A>G
c.1857A>G (p.Leu619=)
c.7791A>G (p.Leu2597=)
c.896-30025A>G
c.2622A>G (p.Leu874=)
c.7665A>G (p.Leu2555=)
n.1594A>G
c.7794A>G (p.Leu2598=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489750A>TCA426765688ALMS1c.7410A>T (p.Leu2470=)
c.802A>T
c.4862A>T
c.1857A>T (p.Leu619=)
c.7791A>T (p.Leu2597=)
c.896-30025A>T
c.2622A>T (p.Leu874=)
c.7665A>T (p.Leu2555=)
n.1594A>T
c.7794A>T (p.Leu2598=)
2g.73489751G>ACA347264073ALMS1c.7411G>A (p.Asp2471Asn)
c.803G>A
c.4863G>A
c.1858G>A (p.Asp620Asn)
c.7792G>A (p.Asp2598Asn)
c.896-30024G>A
c.2623G>A (p.Asp875Asn)
c.7666G>A (p.Asp2556Asn)
n.1595G>A
c.7795G>A (p.Asp2599Asn)
2g.73489751G>CCA347264074ALMS1c.7411G>C (p.Asp2471His)
c.803G>C
c.4863G>C
c.1858G>C (p.Asp620His)
c.7792G>C (p.Asp2598His)
c.896-30024G>C
c.2623G>C (p.Asp875His)
c.7666G>C (p.Asp2556His)
n.1595G>C
c.7795G>C (p.Asp2599His)
2g.73489751G=CA1260981141ALMS1c.7411G= (p.Asp2471=)
c.803G=
c.4863G=
c.1858G= (p.Asp620=)
c.7792G= (p.Asp2598=)
c.896-30024G=
c.2623G= (p.Asp875=)
c.7666G= (p.Asp2556=)
n.1595G=
c.7795G= (p.Asp2599=)
2g.73489751G>TCA1714352ALMS1c.7411G>T (p.Asp2471Tyr)
c.803G>T
c.4863G>T
c.1858G>T (p.Asp620Tyr)
c.7792G>T (p.Asp2598Tyr)
c.896-30024G>T
c.2623G>T (p.Asp875Tyr)
c.7666G>T (p.Asp2556Tyr)
n.1595G>T
c.7795G>T (p.Asp2599Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489752A=CA1260981142ALMS1c.7412A= (p.Asp2471=)
c.804A=
c.4864A=
c.1859A= (p.Asp620=)
c.7793A= (p.Asp2598=)
c.896-30023A=
c.2624A= (p.Asp875=)
c.7667A= (p.Asp2556=)
n.1596A=
c.7796A= (p.Asp2599=)
2g.73489752A>CCA347264075ALMS1c.7412A>C (p.Asp2471Ala)
c.804A>C
c.4864A>C
c.1859A>C (p.Asp620Ala)
c.7793A>C (p.Asp2598Ala)
c.896-30023A>C
c.2624A>C (p.Asp875Ala)
c.7667A>C (p.Asp2556Ala)
n.1596A>C
c.7796A>C (p.Asp2599Ala)
2g.73489752A>GCA347264076ALMS1c.7412A>G (p.Asp2471Gly)
c.804A>G
c.4864A>G
c.1859A>G (p.Asp620Gly)
c.7793A>G (p.Asp2598Gly)
c.896-30023A>G
c.2624A>G (p.Asp875Gly)
c.7667A>G (p.Asp2556Gly)
n.1596A>G
c.7796A>G (p.Asp2599Gly)
 dbSNP gnomAD v4
2g.73489752A>TCA347264077ALMS1c.7412A>T (p.Asp2471Val)
c.804A>T
c.4864A>T
c.1859A>T (p.Asp620Val)
c.7793A>T (p.Asp2598Val)
c.896-30023A>T
c.2624A>T (p.Asp875Val)
c.7667A>T (p.Asp2556Val)
n.1596A>T
c.7796A>T (p.Asp2599Val)
2g.73489753T>ACA347264078ALMS1c.7413T>A (p.Asp2471Glu)
c.805T>A
c.4865T>A
c.1860T>A (p.Asp620Glu)
c.7794T>A (p.Asp2598Glu)
c.896-30022T>A
c.2625T>A (p.Asp875Glu)
c.7668T>A (p.Asp2556Glu)
n.1597T>A
c.7797T>A (p.Asp2599Glu)
2g.73489753T>CCA426765699ALMS1c.7413T>C (p.Asp2471=)
c.805T>C
c.4865T>C
c.1860T>C (p.Asp620=)
c.7794T>C (p.Asp2598=)
c.896-30022T>C
c.2625T>C (p.Asp875=)
c.7668T>C (p.Asp2556=)
n.1597T>C
c.7797T>C (p.Asp2599=)
 gnomAD v4
2g.73489753T>GCA347264079ALMS1c.7413T>G (p.Asp2471Glu)
c.805T>G
c.4865T>G
c.1860T>G (p.Asp620Glu)
c.7794T>G (p.Asp2598Glu)
c.896-30022T>G
c.2625T>G (p.Asp875Glu)
c.7668T>G (p.Asp2556Glu)
n.1597T>G
c.7797T>G (p.Asp2599Glu)
2g.73489754A>CCA426765705ALMS1c.7414A>C (p.Arg2472=)
c.806A>C
c.4866A>C
c.1861A>C (p.Arg621=)
c.7795A>C (p.Arg2599=)
c.896-30021A>C
c.2626A>C (p.Arg876=)
c.7669A>C (p.Arg2557=)
n.1598A>C
c.7798A>C (p.Arg2600=)
2g.73489754A>GCA347264080ALMS1c.7414A>G (p.Arg2472Gly)
c.806A>G
c.4866A>G
c.1861A>G (p.Arg621Gly)
c.7795A>G (p.Arg2599Gly)
c.896-30021A>G
c.2626A>G (p.Arg876Gly)
c.7669A>G (p.Arg2557Gly)
n.1598A>G
c.7798A>G (p.Arg2600Gly)
 gnomAD v4
2g.73489754A>TCA347264081ALMS1c.7414A>T (p.Arg2472Ter)
c.806A>T
c.4866A>T
c.1861A>T (p.Arg621Ter)
c.7795A>T (p.Arg2599Ter)
c.896-30021A>T
c.2626A>T (p.Arg876Ter)
c.7669A>T (p.Arg2557Ter)
n.1598A>T
c.7798A>T (p.Arg2600Ter)
2g.73489755G>ACA347264082ALMS1c.7415G>A (p.Arg2472Lys)
c.807G>A
c.4867G>A
c.1862G>A (p.Arg621Lys)
c.7796G>A (p.Arg2599Lys)
c.896-30020G>A
c.2627G>A (p.Arg876Lys)
c.7670G>A (p.Arg2557Lys)
n.1599G>A
c.7799G>A (p.Arg2600Lys)
2g.73489755G>CCA347264083ALMS1c.7415G>C (p.Arg2472Thr)
c.807G>C
c.4867G>C
c.1862G>C (p.Arg621Thr)
c.7796G>C (p.Arg2599Thr)
c.896-30020G>C
c.2627G>C (p.Arg876Thr)
c.7670G>C (p.Arg2557Thr)
n.1599G>C
c.7799G>C (p.Arg2600Thr)
 gnomAD v4
2g.73489755G>TCA347264084ALMS1c.7415G>T (p.Arg2472Ile)
c.807G>T
c.4867G>T
c.1862G>T (p.Arg621Ile)
c.7796G>T (p.Arg2599Ile)
c.896-30020G>T
c.2627G>T (p.Arg876Ile)
c.7670G>T (p.Arg2557Ile)
n.1599G>T
c.7799G>T (p.Arg2600Ile)
2g.73489756A=CA1260981143ALMS1c.7416A= (p.Arg2472=)
c.808A=
c.4868A=
c.1863A= (p.Arg621=)
c.7797A= (p.Arg2599=)
c.896-30019A=
c.2628A= (p.Arg876=)
c.7671A= (p.Arg2557=)
n.1600A=
c.7800A= (p.Arg2600=)
2g.73489756A>CCA347264085ALMS1c.7416A>C (p.Arg2472Ser)
c.808A>C
c.4868A>C
c.1863A>C (p.Arg621Ser)
c.7797A>C (p.Arg2599Ser)
c.896-30019A>C
c.2628A>C (p.Arg876Ser)
c.7671A>C (p.Arg2557Ser)
n.1600A>C
c.7800A>C (p.Arg2600Ser)
2g.73489756A>GCA426765716ALMS1c.7416A>G (p.Arg2472=)
c.808A>G
c.4868A>G
c.1863A>G (p.Arg621=)
c.7797A>G (p.Arg2599=)
c.896-30019A>G
c.2628A>G (p.Arg876=)
c.7671A>G (p.Arg2557=)
n.1600A>G
c.7800A>G (p.Arg2600=)
 ClinVar dbSNP gnomAD v4
2g.73489756A>TCA347264086ALMS1c.7416A>T (p.Arg2472Ser)
c.808A>T
c.4868A>T
c.1863A>T (p.Arg621Ser)
c.7797A>T (p.Arg2599Ser)
c.896-30019A>T
c.2628A>T (p.Arg876Ser)
c.7671A>T (p.Arg2557Ser)
n.1600A>T
c.7800A>T (p.Arg2600Ser)
2g.73489757C>ACA347264087ALMS1c.7417C>A (p.His2473Asn)
c.809C>A
c.4869C>A
c.1864C>A (p.His622Asn)
c.7798C>A (p.His2600Asn)
c.896-30018C>A
c.2629C>A (p.His877Asn)
c.7672C>A (p.His2558Asn)
n.1601C>A
c.7801C>A (p.His2601Asn)
2g.73489757C>GCA347264088ALMS1c.7417C>G (p.His2473Asp)
c.809C>G
c.4869C>G
c.1864C>G (p.His622Asp)
c.7798C>G (p.His2600Asp)
c.896-30018C>G
c.2629C>G (p.His877Asp)
c.7672C>G (p.His2558Asp)
n.1601C>G
c.7801C>G (p.His2601Asp)
2g.73489757C>TCA347264089ALMS1c.7417C>T (p.His2473Tyr)
c.809C>T
c.4869C>T
c.1864C>T (p.His622Tyr)
c.7798C>T (p.His2600Tyr)
c.896-30018C>T
c.2629C>T (p.His877Tyr)
c.7672C>T (p.His2558Tyr)
n.1601C>T
c.7801C>T (p.His2601Tyr)
2g.73489758A=CA1260981144ALMS1c.7418A= (p.His2473=)
c.810A=
c.4870A=
c.1865A= (p.His622=)
c.7799A= (p.His2600=)
c.896-30017A=
c.2630A= (p.His877=)
c.7673A= (p.His2558=)
n.1602A=
c.7802A= (p.His2601=)
2g.73489758A>CCA347264090ALMS1c.7418A>C (p.His2473Pro)
c.810A>C
c.4870A>C
c.1865A>C (p.His622Pro)
c.7799A>C (p.His2600Pro)
c.896-30017A>C
c.2630A>C (p.His877Pro)
c.7673A>C (p.His2558Pro)
n.1602A>C
c.7802A>C (p.His2601Pro)
2g.73489758A>GCA347264091ALMS1c.7418A>G (p.His2473Arg)
c.810A>G
c.4870A>G
c.1865A>G (p.His622Arg)
c.7799A>G (p.His2600Arg)
c.896-30017A>G
c.2630A>G (p.His877Arg)
c.7673A>G (p.His2558Arg)
n.1602A>G
c.7802A>G (p.His2601Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489758A>TCA347264092ALMS1c.7418A>T (p.His2473Leu)
c.810A>T
c.4870A>T
c.1865A>T (p.His622Leu)
c.7799A>T (p.His2600Leu)
c.896-30017A>T
c.2630A>T (p.His877Leu)
c.7673A>T (p.His2558Leu)
n.1602A>T
c.7802A>T (p.His2601Leu)
2g.73489759C>ACA347264093ALMS1c.7419C>A (p.His2473Gln)
c.811C>A
c.4871C>A
c.1866C>A (p.His622Gln)
c.7800C>A (p.His2600Gln)
c.896-30016C>A
c.2631C>A (p.His877Gln)
c.7674C>A (p.His2558Gln)
n.1603C>A
c.7803C>A (p.His2601Gln)
 gnomAD v4
2g.73489759C>GCA347264094ALMS1c.7419C>G (p.His2473Gln)
c.811C>G
c.4871C>G
c.1866C>G (p.His622Gln)
c.7800C>G (p.His2600Gln)
c.896-30016C>G
c.2631C>G (p.His877Gln)
c.7674C>G (p.His2558Gln)
n.1603C>G
c.7803C>G (p.His2601Gln)
 gnomAD v4
2g.73489759C>TCA426765733ALMS1c.7419C>T (p.His2473=)
c.811C>T
c.4871C>T
c.1866C>T (p.His622=)
c.7800C>T (p.His2600=)
c.896-30016C>T
c.2631C>T (p.His877=)
c.7674C>T (p.His2558=)
n.1603C>T
c.7803C>T (p.His2601=)
 ClinVar
2g.73489760C>ACA347264095ALMS1c.7420C>A (p.Pro2474Thr)
c.812C>A
c.4872C>A
c.1867C>A (p.Pro623Thr)
c.7801C>A (p.Pro2601Thr)
c.896-30015C>A
c.2632C>A (p.Pro878Thr)
c.7675C>A (p.Pro2559Thr)
n.1604C>A
c.7804C>A (p.Pro2602Thr)
2g.73489760C=CA1260981145ALMS1c.7420C= (p.Pro2474=)
c.812C=
c.4872C=
c.1867C= (p.Pro623=)
c.7801C= (p.Pro2601=)
c.896-30015C=
c.2632C= (p.Pro878=)
c.7675C= (p.Pro2559=)
n.1604C=
c.7804C= (p.Pro2602=)
2g.73489760C>GCA347264096ALMS1c.7420C>G (p.Pro2474Ala)
c.812C>G
c.4872C>G
c.1867C>G (p.Pro623Ala)
c.7801C>G (p.Pro2601Ala)
c.896-30015C>G
c.2632C>G (p.Pro878Ala)
c.7675C>G (p.Pro2559Ala)
n.1604C>G
c.7804C>G (p.Pro2602Ala)
 ClinVar
2g.73489760C>TCA347264097ALMS1c.7420C>T (p.Pro2474Ser)
c.812C>T
c.4872C>T
c.1867C>T (p.Pro623Ser)
c.7801C>T (p.Pro2601Ser)
c.896-30015C>T
c.2632C>T (p.Pro878Ser)
c.7675C>T (p.Pro2559Ser)
n.1604C>T
c.7804C>T (p.Pro2602Ser)
 ClinVar dbSNP gnomAD v4
2g.73489761C>ACA347264100ALMS1c.7421C>A (p.Pro2474His)
c.813C>A
c.4873C>A
c.1868C>A (p.Pro623His)
c.7802C>A (p.Pro2601His)
c.896-30014C>A
c.2633C>A (p.Pro878His)
c.7676C>A (p.Pro2559His)
n.1605C>A
c.7805C>A (p.Pro2602His)
 ClinVar dbSNP gnomAD v4
2g.73489761C>GCA347264099ALMS1c.7421C>G (p.Pro2474Arg)
c.813C>G
c.4873C>G
c.1868C>G (p.Pro623Arg)
c.7802C>G (p.Pro2601Arg)
c.896-30014C>G
c.2633C>G (p.Pro878Arg)
c.7676C>G (p.Pro2559Arg)
n.1605C>G
c.7805C>G (p.Pro2602Arg)
 gnomAD v4
2g.73489761C>TCA347264098ALMS1c.7421C>T (p.Pro2474Leu)
c.813C>T
c.4873C>T
c.1868C>T (p.Pro623Leu)
c.7802C>T (p.Pro2601Leu)
c.896-30014C>T
c.2633C>T (p.Pro878Leu)
c.7676C>T (p.Pro2559Leu)
n.1605C>T
c.7805C>T (p.Pro2602Leu)
2g.73489762T>ACA426765749ALMS1c.7422T>A (p.Pro2474=)
c.814T>A
c.4874T>A
c.1869T>A (p.Pro623=)
c.7803T>A (p.Pro2601=)
c.896-30013T>A
c.2634T>A (p.Pro878=)
c.7677T>A (p.Pro2559=)
n.1606T>A
c.7806T>A (p.Pro2602=)
2g.73489762T>CCA426765745ALMS1c.7422T>C (p.Pro2474=)
c.814T>C
c.4874T>C
c.1869T>C (p.Pro623=)
c.7803T>C (p.Pro2601=)
c.896-30013T>C
c.2634T>C (p.Pro878=)
c.7677T>C (p.Pro2559=)
n.1606T>C
c.7806T>C (p.Pro2602=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73489762T>GCA426765746ALMS1c.7422T>G (p.Pro2474=)
c.814T>G
c.4874T>G
c.1869T>G (p.Pro623=)
c.7803T>G (p.Pro2601=)
c.896-30013T>G
c.2634T>G (p.Pro878=)
c.7677T>G (p.Pro2559=)
n.1606T>G
c.7806T>G (p.Pro2602=)
2g.73489762T=CA1260981146ALMS1c.7422T= (p.Pro2474=)
c.814T=
c.4874T=
c.1869T= (p.Pro623=)
c.7803T= (p.Pro2601=)
c.896-30013T=
c.2634T= (p.Pro878=)
c.7677T= (p.Pro2559=)
n.1606T=
c.7806T= (p.Pro2602=)
2g.73489763T>ACA347264101ALMS1c.7423T>A (p.Cys2475Ser)
c.815T>A
c.4875T>A
c.1870T>A (p.Cys624Ser)
c.7804T>A (p.Cys2602Ser)
c.896-30012T>A
c.2635T>A (p.Cys879Ser)
c.7678T>A (p.Cys2560Ser)
n.1607T>A
c.7807T>A (p.Cys2603Ser)
2g.73489763T>CCA347264102ALMS1c.7423T>C (p.Cys2475Arg)
c.815T>C
c.4875T>C
c.1870T>C (p.Cys624Arg)
c.7804T>C (p.Cys2602Arg)
c.896-30012T>C
c.2635T>C (p.Cys879Arg)
c.7678T>C (p.Cys2560Arg)
n.1607T>C
c.7807T>C (p.Cys2603Arg)
2g.73489763T>GCA347264103ALMS1c.7423T>G (p.Cys2475Gly)
c.815T>G
c.4875T>G
c.1870T>G (p.Cys624Gly)
c.7804T>G (p.Cys2602Gly)
c.896-30012T>G
c.2635T>G (p.Cys879Gly)
c.7678T>G (p.Cys2560Gly)
n.1607T>G
c.7807T>G (p.Cys2603Gly)
2g.73489764G>ACA347264104ALMS1c.7424G>A (p.Cys2475Tyr)
c.816G>A
c.4876G>A
c.1871G>A (p.Cys624Tyr)
c.7805G>A (p.Cys2602Tyr)
c.896-30011G>A
c.2636G>A (p.Cys879Tyr)
c.7679G>A (p.Cys2560Tyr)
n.1608G>A
c.7808G>A (p.Cys2603Tyr)
2g.73489764G>CCA347264105ALMS1c.7424G>C (p.Cys2475Ser)
c.816G>C
c.4876G>C
c.1871G>C (p.Cys624Ser)
c.7805G>C (p.Cys2602Ser)
c.896-30011G>C
c.2636G>C (p.Cys879Ser)
c.7679G>C (p.Cys2560Ser)
n.1608G>C
c.7808G>C (p.Cys2603Ser)
2g.73489764G>TCA347264106ALMS1c.7424G>T (p.Cys2475Phe)
c.816G>T
c.4876G>T
c.1871G>T (p.Cys624Phe)
c.7805G>T (p.Cys2602Phe)
c.896-30011G>T
c.2636G>T (p.Cys879Phe)
c.7679G>T (p.Cys2560Phe)
n.1608G>T
c.7808G>T (p.Cys2603Phe)
2g.73489764dupCA2659619822ALMS1c.7424dup (p.Cys2475TrpfsTer?)
c.816dup
c.4876dup
c.1871dup (p.Cys624TrpfsTer?)
c.7805dup (p.Cys2602TrpfsTer?)
c.896-30011dup
c.2636dup (p.Cys879TrpfsTer?)
c.7679dup (p.Cys2560TrpfsTer?)
n.1608dup
c.7808dup (p.Cys2603TrpfsTer?)
 gnomAD v4
2g.73489765T>ACA347264107ALMS1c.7425T>A (p.Cys2475Ter)
c.817T>A
c.4877T>A
c.1872T>A (p.Cys624Ter)
c.7806T>A (p.Cys2602Ter)
c.896-30010T>A
c.2637T>A (p.Cys879Ter)
c.7680T>A (p.Cys2560Ter)
n.1609T>A
c.7809T>A (p.Cys2603Ter)
 ClinVar
2g.73489765T>CCA426765769ALMS1c.7425T>C (p.Cys2475=)
c.817T>C
c.4877T>C
c.1872T>C (p.Cys624=)
c.7806T>C (p.Cys2602=)
c.896-30010T>C
c.2637T>C (p.Cys879=)
c.7680T>C (p.Cys2560=)
n.1609T>C
c.7809T>C (p.Cys2603=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489765T>GCA347264108ALMS1c.7425T>G (p.Cys2475Trp)
c.817T>G
c.4877T>G
c.1872T>G (p.Cys624Trp)
c.7806T>G (p.Cys2602Trp)
c.896-30010T>G
c.2637T>G (p.Cys879Trp)
c.7680T>G (p.Cys2560Trp)
n.1609T>G
c.7809T>G (p.Cys2603Trp)
2g.73489765T=CA1260981147ALMS1c.7425T= (p.Cys2475=)
c.817T=
c.4877T=
c.1872T= (p.Cys624=)
c.7806T= (p.Cys2602=)
c.896-30010T=
c.2637T= (p.Cys879=)
c.7680T= (p.Cys2560=)
n.1609T=
c.7809T= (p.Cys2603=)
2g.73489766G>ACA347264109ALMS1c.7426G>A (p.Ala2476Thr)
c.818G>A
c.4878G>A
c.1873G>A (p.Ala625Thr)
c.7807G>A (p.Ala2603Thr)
c.896-30009G>A
c.2638G>A (p.Ala880Thr)
c.7681G>A (p.Ala2561Thr)
n.1610G>A
c.7810G>A (p.Ala2604Thr)
2g.73489766G>CCA50377496ALMS1c.7426G>C (p.Ala2476Pro)
c.818G>C
c.4878G>C
c.1873G>C (p.Ala625Pro)
c.7807G>C (p.Ala2603Pro)
c.896-30009G>C
c.2638G>C (p.Ala880Pro)
c.7681G>C (p.Ala2561Pro)
n.1610G>C
c.7810G>C (p.Ala2604Pro)
 dbSNP
2g.73489766G=CA1260981148ALMS1c.7426G= (p.Ala2476=)
c.818G=
c.4878G=
c.1873G= (p.Ala625=)
c.7807G= (p.Ala2603=)
c.896-30009G=
c.2638G= (p.Ala880=)
c.7681G= (p.Ala2561=)
n.1610G=
c.7810G= (p.Ala2604=)
2g.73489766G>TCA347264110ALMS1c.7426G>T (p.Ala2476Ser)
c.818G>T
c.4878G>T
c.1873G>T (p.Ala625Ser)
c.7807G>T (p.Ala2603Ser)
c.896-30009G>T
c.2638G>T (p.Ala880Ser)
c.7681G>T (p.Ala2561Ser)
n.1610G>T
c.7810G>T (p.Ala2604Ser)
2g.73489767C>ACA347264113ALMS1c.7427C>A (p.Ala2476Asp)
c.819C>A
c.4879C>A
c.1874C>A (p.Ala625Asp)
c.7808C>A (p.Ala2603Asp)
c.896-30008C>A
c.2639C>A (p.Ala880Asp)
c.7682C>A (p.Ala2561Asp)
n.1611C>A
c.7811C>A (p.Ala2604Asp)
2g.73489767C>GCA347264112ALMS1c.7427C>G (p.Ala2476Gly)
c.819C>G
c.4879C>G
c.1874C>G (p.Ala625Gly)
c.7808C>G (p.Ala2603Gly)
c.896-30008C>G
c.2639C>G (p.Ala880Gly)
c.7682C>G (p.Ala2561Gly)
n.1611C>G
c.7811C>G (p.Ala2604Gly)
2g.73489767C>TCA347264111ALMS1c.7427C>T (p.Ala2476Val)
c.819C>T
c.4879C>T
c.1874C>T (p.Ala625Val)
c.7808C>T (p.Ala2603Val)
c.896-30008C>T
c.2639C>T (p.Ala880Val)
c.7682C>T (p.Ala2561Val)
n.1611C>T
c.7811C>T (p.Ala2604Val)
2g.73489768T>ACA426765779ALMS1c.7428T>A (p.Ala2476=)
c.820T>A
c.4880T>A
c.1875T>A (p.Ala625=)
c.7809T>A (p.Ala2603=)
c.896-30007T>A
c.2640T>A (p.Ala880=)
c.7683T>A (p.Ala2561=)
n.1612T>A
c.7812T>A (p.Ala2604=)
 dbSNP gnomAD v3 gnomAD v4
2g.73489768T>CCA426765781ALMS1c.7428T>C (p.Ala2476=)
c.820T>C
c.4880T>C
c.1875T>C (p.Ala625=)
c.7809T>C (p.Ala2603=)
c.896-30007T>C
c.2640T>C (p.Ala880=)
c.7683T>C (p.Ala2561=)
n.1612T>C
c.7812T>C (p.Ala2604=)
2g.73489768T>GCA426765783ALMS1c.7428T>G (p.Ala2476=)
c.820T>G
c.4880T>G
c.1875T>G (p.Ala625=)
c.7809T>G (p.Ala2603=)
c.896-30007T>G
c.2640T>G (p.Ala880=)
c.7683T>G (p.Ala2561=)
n.1612T>G
c.7812T>G (p.Ala2604=)
2g.73489768T=CA1260981149ALMS1c.7428T= (p.Ala2476=)
c.820T=
c.4880T=
c.1875T= (p.Ala625=)
c.7809T= (p.Ala2603=)
c.896-30007T=
c.2640T= (p.Ala880=)
c.7683T= (p.Ala2561=)
n.1612T=
c.7812T= (p.Ala2604=)
2g.73489770delCA2699534513ALMS1c.7430del (p.Phe2477SerfsTer9)
c.822del
c.4882del
c.1877del (p.Phe626SerfsTer9)
c.7811del (p.Phe2604SerfsTer9)
c.896-30005del
c.2642del (p.Phe881SerfsTer9)
c.7685del (p.Phe2562SerfsTer9)
n.1614del
c.7814del (p.Phe2605SerfsTer9)
 dbSNP
2g.73489769T>ACA347264114ALMS1c.7429T>A (p.Phe2477Ile)
c.821T>A
c.4881T>A
c.1876T>A (p.Phe626Ile)
c.7810T>A (p.Phe2604Ile)
c.896-30006T>A
c.2641T>A (p.Phe881Ile)
c.7684T>A (p.Phe2562Ile)
n.1613T>A
c.7813T>A (p.Phe2605Ile)
2g.73489769T>CCA347264115ALMS1c.7429T>C (p.Phe2477Leu)
c.821T>C
c.4881T>C
c.1876T>C (p.Phe626Leu)
c.7810T>C (p.Phe2604Leu)
c.896-30006T>C
c.2641T>C (p.Phe881Leu)
c.7684T>C (p.Phe2562Leu)
n.1613T>C
c.7813T>C (p.Phe2605Leu)
2g.73489769T>GCA347264116ALMS1c.7429T>G (p.Phe2477Val)
c.821T>G
c.4881T>G
c.1876T>G (p.Phe626Val)
c.7810T>G (p.Phe2604Val)
c.896-30006T>G
c.2641T>G (p.Phe881Val)
c.7684T>G (p.Phe2562Val)
n.1613T>G
c.7813T>G (p.Phe2605Val)
 ClinVar dbSNP gnomAD v2
2g.73489769T=CA1260981150ALMS1c.7429T= (p.Phe2477=)
c.821T=
c.4881T=
c.1876T= (p.Phe626=)
c.7810T= (p.Phe2604=)
c.896-30006T=
c.2641T= (p.Phe881=)
c.7684T= (p.Phe2562=)
n.1613T=
c.7813T= (p.Phe2605=)
2g.73489770T>ACA347264117ALMS1c.7430T>A (p.Phe2477Tyr)
c.822T>A
c.4882T>A
c.1877T>A (p.Phe626Tyr)
c.7811T>A (p.Phe2604Tyr)
c.896-30005T>A
c.2642T>A (p.Phe881Tyr)
c.7685T>A (p.Phe2562Tyr)
n.1614T>A
c.7814T>A (p.Phe2605Tyr)
2g.73489770T>CCA347264118ALMS1c.7430T>C (p.Phe2477Ser)
c.822T>C
c.4882T>C
c.1877T>C (p.Phe626Ser)
c.7811T>C (p.Phe2604Ser)
c.896-30005T>C
c.2642T>C (p.Phe881Ser)
c.7685T>C (p.Phe2562Ser)
n.1614T>C
c.7814T>C (p.Phe2605Ser)
 ClinVar dbSNP
2g.73489770T>GCA347264119ALMS1c.7430T>G (p.Phe2477Cys)
c.822T>G
c.4882T>G
c.1877T>G (p.Phe626Cys)
c.7811T>G (p.Phe2604Cys)
c.896-30005T>G
c.2642T>G (p.Phe881Cys)
c.7685T>G (p.Phe2562Cys)
n.1614T>G
c.7814T>G (p.Phe2605Cys)
2g.73489770T=CA1260981151ALMS1c.7430T= (p.Phe2477=)
c.822T=
c.4882T=
c.1877T= (p.Phe626=)
c.7811T= (p.Phe2604=)
c.896-30005T=
c.2642T= (p.Phe881=)
c.7685T= (p.Phe2562=)
n.1614T=
c.7814T= (p.Phe2605=)
2g.73489771C>ACA347264120ALMS1c.7431C>A (p.Phe2477Leu)
c.823C>A
c.4883C>A
c.1878C>A (p.Phe626Leu)
c.7812C>A (p.Phe2604Leu)
c.896-30004C>A
c.2643C>A (p.Phe881Leu)
c.7686C>A (p.Phe2562Leu)
n.1615C>A
c.7815C>A (p.Phe2605Leu)
2g.73489771C=CA1260981152ALMS1c.7431C= (p.Phe2477=)
c.823C=
c.4883C=
c.1878C= (p.Phe626=)
c.7812C= (p.Phe2604=)
c.896-30004C=
c.2643C= (p.Phe881=)
c.7686C= (p.Phe2562=)
n.1615C=
c.7815C= (p.Phe2605=)
2g.73489771C>GCA1714353ALMS1c.7431C>G (p.Phe2477Leu)
c.823C>G
c.4883C>G
c.1878C>G (p.Phe626Leu)
c.7812C>G (p.Phe2604Leu)
c.896-30004C>G
c.2643C>G (p.Phe881Leu)
c.7686C>G (p.Phe2562Leu)
n.1615C>G
c.7815C>G (p.Phe2605Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489771C>TCA426765803ALMS1c.7431C>T (p.Phe2477=)
c.823C>T
c.4883C>T
c.1878C>T (p.Phe626=)
c.7812C>T (p.Phe2604=)
c.896-30004C>T
c.2643C>T (p.Phe881=)
c.7686C>T (p.Phe2562=)
n.1615C>T
c.7815C>T (p.Phe2605=)
 gnomAD v4
2g.73489772A>CCA426765805ALMS1c.7432A>C (p.Arg2478=)
c.824A>C
c.4884A>C
c.1879A>C (p.Arg627=)
c.7813A>C (p.Arg2605=)
c.896-30003A>C
c.2644A>C (p.Arg882=)
c.7687A>C (p.Arg2563=)
n.1616A>C
c.7816A>C (p.Arg2606=)
2g.73489772A>GCA347264121ALMS1c.7432A>G (p.Arg2478Gly)
c.824A>G
c.4884A>G
c.1879A>G (p.Arg627Gly)
c.7813A>G (p.Arg2605Gly)
c.896-30003A>G
c.2644A>G (p.Arg882Gly)
c.7687A>G (p.Arg2563Gly)
n.1616A>G
c.7816A>G (p.Arg2606Gly)
2g.73489772A>TCA347264122ALMS1c.7432A>T (p.Arg2478Ter)
c.824A>T
c.4884A>T
c.1879A>T (p.Arg627Ter)
c.7813A>T (p.Arg2605Ter)
c.896-30003A>T
c.2644A>T (p.Arg882Ter)
c.7687A>T (p.Arg2563Ter)
n.1616A>T
c.7816A>T (p.Arg2606Ter)
2g.73489773G>ACA347264123ALMS1c.7433G>A (p.Arg2478Lys)
c.825G>A
c.4885G>A
c.1880G>A (p.Arg627Lys)
c.7814G>A (p.Arg2605Lys)
c.896-30002G>A
c.2645G>A (p.Arg882Lys)
c.7688G>A (p.Arg2563Lys)
n.1617G>A
c.7817G>A (p.Arg2606Lys)
2g.73489773G>CCA347264124ALMS1c.7433G>C (p.Arg2478Thr)
c.825G>C
c.4885G>C
c.1880G>C (p.Arg627Thr)
c.7814G>C (p.Arg2605Thr)
c.896-30002G>C
c.2645G>C (p.Arg882Thr)
c.7688G>C (p.Arg2563Thr)
n.1617G>C
c.7817G>C (p.Arg2606Thr)
2g.73489773G>TCA347264125ALMS1c.7433G>T (p.Arg2478Ile)
c.825G>T
c.4885G>T
c.1880G>T (p.Arg627Ile)
c.7814G>T (p.Arg2605Ile)
c.896-30002G>T
c.2645G>T (p.Arg882Ile)
c.7688G>T (p.Arg2563Ile)
n.1617G>T
c.7817G>T (p.Arg2606Ile)
2g.73489774A>CCA347264126ALMS1c.7434A>C (p.Arg2478Ser)
c.826A>C
c.4886A>C
c.1881A>C (p.Arg627Ser)
c.7815A>C (p.Arg2605Ser)
c.896-30001A>C
c.2646A>C (p.Arg882Ser)
c.7689A>C (p.Arg2563Ser)
n.1618A>C
c.7818A>C (p.Arg2606Ser)
2g.73489774A>GCA426765814ALMS1c.7434A>G (p.Arg2478=)
c.826A>G
c.4886A>G
c.1881A>G (p.Arg627=)
c.7815A>G (p.Arg2605=)
c.896-30001A>G
c.2646A>G (p.Arg882=)
c.7689A>G (p.Arg2563=)
n.1618A>G
c.7818A>G (p.Arg2606=)
2g.73489774A>TCA347264127ALMS1c.7434A>T (p.Arg2478Ser)
c.826A>T
c.4886A>T
c.1881A>T (p.Arg627Ser)
c.7815A>T (p.Arg2605Ser)
c.896-30001A>T
c.2646A>T (p.Arg882Ser)
c.7689A>T (p.Arg2563Ser)
n.1618A>T
c.7818A>T (p.Arg2606Ser)
2g.73489775T>ACA347264128ALMS1c.7435T>A (p.Ser2479Thr)
c.827T>A
c.4887T>A
c.1882T>A (p.Ser628Thr)
c.7816T>A (p.Ser2606Thr)
c.896-30000T>A
c.2647T>A (p.Ser883Thr)
c.7690T>A (p.Ser2564Thr)
n.1619T>A
c.7819T>A (p.Ser2607Thr)
2g.73489775T>CCA1714354ALMS1c.7435T>C (p.Ser2479Pro)
c.827T>C
c.4887T>C
c.1882T>C (p.Ser628Pro)
c.7816T>C (p.Ser2606Pro)
c.896-30000T>C
c.2647T>C (p.Ser883Pro)
c.7690T>C (p.Ser2564Pro)
n.1619T>C
c.7819T>C (p.Ser2607Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489775T>GCA347264129ALMS1c.7435T>G (p.Ser2479Ala)
c.827T>G
c.4887T>G
c.1882T>G (p.Ser628Ala)
c.7816T>G (p.Ser2606Ala)
c.896-30000T>G
c.2647T>G (p.Ser883Ala)
c.7690T>G (p.Ser2564Ala)
n.1619T>G
c.7819T>G (p.Ser2607Ala)
2g.73489775T=CA1260981153ALMS1c.7435T= (p.Ser2479=)
c.827T=
c.4887T=
c.1882T= (p.Ser628=)
c.7816T= (p.Ser2606=)
c.896-30000T=
c.2647T= (p.Ser883=)
c.7690T= (p.Ser2564=)
n.1619T=
c.7819T= (p.Ser2607=)
2g.73489776C>ACA347264130ALMS1c.7436C>A (p.Ser2479Tyr)
c.828C>A
c.4888C>A
c.1883C>A (p.Ser628Tyr)
c.7817C>A (p.Ser2606Tyr)
c.896-29999C>A
c.2648C>A (p.Ser883Tyr)
c.7691C>A (p.Ser2564Tyr)
n.1620C>A
c.7820C>A (p.Ser2607Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.73489776C=CA1260981154ALMS1c.7436C= (p.Ser2479=)
c.828C=
c.4888C=
c.1883C= (p.Ser628=)
c.7817C= (p.Ser2606=)
c.896-29999C=
c.2648C= (p.Ser883=)
c.7691C= (p.Ser2564=)
n.1620C=
c.7820C= (p.Ser2607=)
2g.73489776C>GCA347264131ALMS1c.7436C>G (p.Ser2479Cys)
c.828C>G
c.4888C>G
c.1883C>G (p.Ser628Cys)
c.7817C>G (p.Ser2606Cys)
c.896-29999C>G
c.2648C>G (p.Ser883Cys)
c.7691C>G (p.Ser2564Cys)
n.1620C>G
c.7820C>G (p.Ser2607Cys)
 ClinVar
2g.73489776C>TCA50377518ALMS1c.7436C>T (p.Ser2479Phe)
c.828C>T
c.4888C>T
c.1883C>T (p.Ser628Phe)
c.7817C>T (p.Ser2606Phe)
c.896-29999C>T
c.2648C>T (p.Ser883Phe)
c.7691C>T (p.Ser2564Phe)
n.1620C>T
c.7820C>T (p.Ser2607Phe)
 dbSNP
2g.73489777T>ACA426765826ALMS1c.7437T>A (p.Ser2479=)
c.829T>A
c.4889T>A
c.1884T>A (p.Ser628=)
c.7818T>A (p.Ser2606=)
c.896-29998T>A
c.2649T>A (p.Ser883=)
c.7692T>A (p.Ser2564=)
n.1621T>A
c.7821T>A (p.Ser2607=)
2g.73489777T>CCA426765828ALMS1c.7437T>C (p.Ser2479=)
c.829T>C
c.4889T>C
c.1884T>C (p.Ser628=)
c.7818T>C (p.Ser2606=)
c.896-29998T>C
c.2649T>C (p.Ser883=)
c.7692T>C (p.Ser2564=)
n.1621T>C
c.7821T>C (p.Ser2607=)
2g.73489777T>GCA426765831ALMS1c.7437T>G (p.Ser2479=)
c.829T>G
c.4889T>G
c.1884T>G (p.Ser628=)
c.7818T>G (p.Ser2606=)
c.896-29998T>G
c.2649T>G (p.Ser883=)
c.7692T>G (p.Ser2564=)
n.1621T>G
c.7821T>G (p.Ser2607=)
2g.73489778G>ACA347264132ALMS1c.7438G>A (p.Ala2480Thr)
c.830G>A
c.4890G>A
c.1885G>A (p.Ala629Thr)
c.7819G>A (p.Ala2607Thr)
c.896-29997G>A
c.2650G>A (p.Ala884Thr)
c.7693G>A (p.Ala2565Thr)
n.1622G>A
c.7822G>A (p.Ala2608Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489778G>CCA347264133ALMS1c.7438G>C (p.Ala2480Pro)
c.830G>C
c.4890G>C
c.1885G>C (p.Ala629Pro)
c.7819G>C (p.Ala2607Pro)
c.896-29997G>C
c.2650G>C (p.Ala884Pro)
c.7693G>C (p.Ala2565Pro)
n.1622G>C
c.7822G>C (p.Ala2608Pro)
 gnomAD v4
2g.73489778G=CA1260981155ALMS1c.7438G= (p.Ala2480=)
c.830G=
c.4890G=
c.1885G= (p.Ala629=)
c.7819G= (p.Ala2607=)
c.896-29997G=
c.2650G= (p.Ala884=)
c.7693G= (p.Ala2565=)
n.1622G=
c.7822G= (p.Ala2608=)
2g.73489778G>TCA347264134ALMS1c.7438G>T (p.Ala2480Ser)
c.830G>T
c.4890G>T
c.1885G>T (p.Ala629Ser)
c.7819G>T (p.Ala2607Ser)
c.896-29997G>T
c.2650G>T (p.Ala884Ser)
c.7693G>T (p.Ala2565Ser)
n.1622G>T
c.7822G>T (p.Ala2608Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.73489779C>ACA347264135ALMS1c.7439C>A (p.Ala2480Asp)
c.831C>A
c.4891C>A
c.1886C>A (p.Ala629Asp)
c.7820C>A (p.Ala2607Asp)
c.896-29996C>A
c.2651C>A (p.Ala884Asp)
c.7694C>A (p.Ala2565Asp)
n.1623C>A
c.7823C>A (p.Ala2608Asp)
2g.73489779C=CA1260981156ALMS1c.7439C= (p.Ala2480=)
c.831C=
c.4891C=
c.1886C= (p.Ala629=)
c.7820C= (p.Ala2607=)
c.896-29996C=
c.2651C= (p.Ala884=)
c.7694C= (p.Ala2565=)
n.1623C=
c.7823C= (p.Ala2608=)
2g.73489779C>GCA1714355ALMS1c.7439C>G (p.Ala2480Gly)
c.831C>G
c.4891C>G
c.1886C>G (p.Ala629Gly)
c.7820C>G (p.Ala2607Gly)
c.896-29996C>G
c.2651C>G (p.Ala884Gly)
c.7694C>G (p.Ala2565Gly)
n.1623C>G
c.7823C>G (p.Ala2608Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489779C>TCA347264137ALMS1c.7439C>T (p.Ala2480Val)
c.831C>T
c.4891C>T
c.1886C>T (p.Ala629Val)
c.7820C>T (p.Ala2607Val)
c.896-29996C>T
c.2651C>T (p.Ala884Val)
c.7694C>T (p.Ala2565Val)
n.1623C>T
c.7823C>T (p.Ala2608Val)
 gnomAD v4
2g.73489780T>ACA426765839ALMS1c.7440T>A (p.Ala2480=)
c.832T>A
c.4892T>A
c.1887T>A (p.Ala629=)
c.7821T>A (p.Ala2607=)
c.896-29995T>A
c.2652T>A (p.Ala884=)
c.7695T>A (p.Ala2565=)
n.1624T>A
c.7824T>A (p.Ala2608=)
2g.73489780T>CCA50377528ALMS1c.7440T>C (p.Ala2480=)
c.832T>C
c.4892T>C
c.1887T>C (p.Ala629=)
c.7821T>C (p.Ala2607=)
c.896-29995T>C
c.2652T>C (p.Ala884=)
c.7695T>C (p.Ala2565=)
n.1624T>C
c.7824T>C (p.Ala2608=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489780T>GCA426765843ALMS1c.7440T>G (p.Ala2480=)
c.832T>G
c.4892T>G
c.1887T>G (p.Ala629=)
c.7821T>G (p.Ala2607=)
c.896-29995T>G
c.2652T>G (p.Ala884=)
c.7695T>G (p.Ala2565=)
n.1624T>G
c.7824T>G (p.Ala2608=)
 ClinVar
2g.73489780T=CA1260981157ALMS1c.7440T= (p.Ala2480=)
c.832T=
c.4892T=
c.1887T= (p.Ala629=)
c.7821T= (p.Ala2607=)
c.896-29995T=
c.2652T= (p.Ala884=)
c.7695T= (p.Ala2565=)
n.1624T=
c.7824T= (p.Ala2608=)
2g.73489781G>ACA347264139ALMS1c.7441G>A (p.Gly2481Arg)
c.833G>A
c.4893G>A
c.1888G>A (p.Gly630Arg)
c.7822G>A (p.Gly2608Arg)
c.896-29994G>A
c.2653G>A (p.Gly885Arg)
c.7696G>A (p.Gly2566Arg)
n.1625G>A
c.7825G>A (p.Gly2609Arg)
2g.73489781G>CCA347264140ALMS1c.7441G>C (p.Gly2481Arg)
c.833G>C
c.4893G>C
c.1888G>C (p.Gly630Arg)
c.7822G>C (p.Gly2608Arg)
c.896-29994G>C
c.2653G>C (p.Gly885Arg)
c.7696G>C (p.Gly2566Arg)
n.1625G>C
c.7825G>C (p.Gly2609Arg)
2g.73489781G>TCA347264142ALMS1c.7441G>T (p.Gly2481Ter)
c.833G>T
c.4893G>T
c.1888G>T (p.Gly630Ter)
c.7822G>T (p.Gly2608Ter)
c.896-29994G>T
c.2653G>T (p.Gly885Ter)
c.7696G>T (p.Gly2566Ter)
n.1625G>T
c.7825G>T (p.Gly2609Ter)
2g.73489782G>ACA347264144ALMS1c.7442G>A (p.Gly2481Glu)
c.834G>A
c.4894G>A
c.1889G>A (p.Gly630Glu)
c.7823G>A (p.Gly2608Glu)
c.896-29993G>A
c.2654G>A (p.Gly885Glu)
c.7697G>A (p.Gly2566Glu)
n.1626G>A
c.7826G>A (p.Gly2609Glu)
2g.73489782G>CCA347264146ALMS1c.7442G>C (p.Gly2481Ala)
c.834G>C
c.4894G>C
c.1889G>C (p.Gly630Ala)
c.7823G>C (p.Gly2608Ala)
c.896-29993G>C
c.2654G>C (p.Gly885Ala)
c.7697G>C (p.Gly2566Ala)
n.1626G>C
c.7826G>C (p.Gly2609Ala)
2g.73489782G>TCA347264145ALMS1c.7442G>T (p.Gly2481Val)
c.834G>T
c.4894G>T
c.1889G>T (p.Gly630Val)
c.7823G>T (p.Gly2608Val)
c.896-29993G>T
c.2654G>T (p.Gly885Val)
c.7697G>T (p.Gly2566Val)
n.1626G>T
c.7826G>T (p.Gly2609Val)
2g.73489783A>CCA426765852ALMS1c.7443A>C (p.Gly2481=)
c.835A>C
c.4895A>C
c.1890A>C (p.Gly630=)
c.7824A>C (p.Gly2608=)
c.896-29992A>C
c.2655A>C (p.Gly885=)
c.7698A>C (p.Gly2566=)
n.1627A>C
c.7827A>C (p.Gly2609=)
2g.73489783A>GCA426765861ALMS1c.7443A>G (p.Gly2481=)
c.835A>G
c.4895A>G
c.1890A>G (p.Gly630=)
c.7824A>G (p.Gly2608=)
c.896-29992A>G
c.2655A>G (p.Gly885=)
c.7698A>G (p.Gly2566=)
n.1627A>G
c.7827A>G (p.Gly2609=)
2g.73489783A>TCA426765858ALMS1c.7443A>T (p.Gly2481=)
c.835A>T
c.4895A>T
c.1890A>T (p.Gly630=)
c.7824A>T (p.Gly2608=)
c.896-29992A>T
c.2655A>T (p.Gly885=)
c.7698A>T (p.Gly2566=)
n.1627A>T
c.7827A>T (p.Gly2609=)
2g.73489783_73489784delCA913090800ALMS1c.7443_7444del (p.Pro2482LeufsTer?)
c.835_836del
c.4895_4896del
c.1890_1891del (p.Pro631LeufsTer?)
c.7824_7825del (p.Pro2609LeufsTer?)
c.896-29992_896-29991del
c.2655_2656del (p.Pro886LeufsTer?)
c.7698_7699del (p.Pro2567LeufsTer?)
n.1627_1628del
c.7827_7828del (p.Pro2610LeufsTer?)
2g.73489783_73489784delinsACCA1260981158ALMS1c.7443_7444delinsAC (p.Gly2481=)
c.835_836delinsAC
c.4895_4896delinsAC
c.1890_1891delinsAC (p.Gly630=)
c.7824_7825delinsAC (p.Gly2608=)
c.896-29992_896-29991delinsAC
c.2655_2656delinsAC (p.Gly885=)
c.7698_7699delinsAC (p.Gly2566=)
n.1627_1628delinsAC
c.7827_7828delinsAC (p.Gly2609=)
2g.73489784C>ACA347264148ALMS1c.7444C>A (p.Pro2482Thr)
c.836C>A
c.4896C>A
c.1891C>A (p.Pro631Thr)
c.7825C>A (p.Pro2609Thr)
c.896-29991C>A
c.2656C>A (p.Pro886Thr)
c.7699C>A (p.Pro2567Thr)
n.1628C>A
c.7828C>A (p.Pro2610Thr)
 ClinVar dbSNP gnomAD v4
2g.73489784C>GCA347264149ALMS1c.7444C>G (p.Pro2482Ala)
c.836C>G
c.4896C>G
c.1891C>G (p.Pro631Ala)
c.7825C>G (p.Pro2609Ala)
c.896-29991C>G
c.2656C>G (p.Pro886Ala)
c.7699C>G (p.Pro2567Ala)
n.1628C>G
c.7828C>G (p.Pro2610Ala)
 gnomAD v4
2g.73489784C>TCA347264151ALMS1c.7444C>T (p.Pro2482Ser)
c.836C>T
c.4896C>T
c.1891C>T (p.Pro631Ser)
c.7825C>T (p.Pro2609Ser)
c.896-29991C>T
c.2656C>T (p.Pro886Ser)
c.7699C>T (p.Pro2567Ser)
n.1628C>T
c.7828C>T (p.Pro2610Ser)
2g.73489786delCA658821971ALMS1c.7446del (p.Ser2483GlnfsTer3)
c.838del
c.4898del
c.1893del (p.Ser632GlnfsTer3)
c.7827del (p.Ser2610GlnfsTer3)
c.896-29989del
c.2658del (p.Ser887GlnfsTer3)
c.7701del (p.Ser2568GlnfsTer3)
n.1630del
c.7830del (p.Ser2611GlnfsTer3)
 ClinVar dbSNP
2g.73489785C>ACA347264153ALMS1c.7445C>A (p.Pro2482His)
c.837C>A
c.4897C>A
c.1892C>A (p.Pro631His)
c.7826C>A (p.Pro2609His)
c.896-29990C>A
c.2657C>A (p.Pro886His)
c.7700C>A (p.Pro2567His)
n.1629C>A
c.7829C>A (p.Pro2610His)
2g.73489785C>GCA347264154ALMS1c.7445C>G (p.Pro2482Arg)
c.837C>G
c.4897C>G
c.1892C>G (p.Pro631Arg)
c.7826C>G (p.Pro2609Arg)
c.896-29990C>G
c.2657C>G (p.Pro886Arg)
c.7700C>G (p.Pro2567Arg)
n.1629C>G
c.7829C>G (p.Pro2610Arg)
2g.73489785C>TCA347264156ALMS1c.7445C>T (p.Pro2482Leu)
c.837C>T
c.4897C>T
c.1892C>T (p.Pro631Leu)
c.7826C>T (p.Pro2609Leu)
c.896-29990C>T
c.2657C>T (p.Pro886Leu)
c.7700C>T (p.Pro2567Leu)
n.1629C>T
c.7829C>T (p.Pro2610Leu)
2g.73489786C>ACA426765867ALMS1c.7446C>A (p.Pro2482=)
c.838C>A
c.4898C>A
c.1893C>A (p.Pro631=)
c.7827C>A (p.Pro2609=)
c.896-29989C>A
c.2658C>A (p.Pro886=)
c.7701C>A (p.Pro2567=)
n.1630C>A
c.7830C>A (p.Pro2610=)
2g.73489786C>GCA426765868ALMS1c.7446C>G (p.Pro2482=)
c.838C>G
c.4898C>G
c.1893C>G (p.Pro631=)
c.7827C>G (p.Pro2609=)
c.896-29989C>G
c.2658C>G (p.Pro886=)
c.7701C>G (p.Pro2567=)
n.1630C>G
c.7830C>G (p.Pro2610=)
2g.73489786C>TCA426765869ALMS1c.7446C>T (p.Pro2482=)
c.838C>T
c.4898C>T
c.1893C>T (p.Pro631=)
c.7827C>T (p.Pro2609=)
c.896-29989C>T
c.2658C>T (p.Pro886=)
c.7701C>T (p.Pro2567=)
n.1630C>T
c.7830C>T (p.Pro2610=)
2g.73489787T>ACA347264158ALMS1c.7447T>A (p.Ser2483Thr)
c.839T>A
c.4899T>A
c.1894T>A (p.Ser632Thr)
c.7828T>A (p.Ser2610Thr)
c.896-29988T>A
c.2659T>A (p.Ser887Thr)
c.7702T>A (p.Ser2568Thr)
n.1631T>A
c.7831T>A (p.Ser2611Thr)
2g.73489787T>CCA347264159ALMS1c.7447T>C (p.Ser2483Pro)
c.839T>C
c.4899T>C
c.1894T>C (p.Ser632Pro)
c.7828T>C (p.Ser2610Pro)
c.896-29988T>C
c.2659T>C (p.Ser887Pro)
c.7702T>C (p.Ser2568Pro)
n.1631T>C
c.7831T>C (p.Ser2611Pro)
 dbSNP
2g.73489787T>GCA347264161ALMS1c.7447T>G (p.Ser2483Ala)
c.839T>G
c.4899T>G
c.1894T>G (p.Ser632Ala)
c.7828T>G (p.Ser2610Ala)
c.896-29988T>G
c.2659T>G (p.Ser887Ala)
c.7702T>G (p.Ser2568Ala)
n.1631T>G
c.7831T>G (p.Ser2611Ala)
2g.73489787T=CA1260981159ALMS1c.7447T= (p.Ser2483=)
c.839T=
c.4899T=
c.1894T= (p.Ser632=)
c.7828T= (p.Ser2610=)
c.896-29988T=
c.2659T= (p.Ser887=)
c.7702T= (p.Ser2568=)
n.1631T=
c.7831T= (p.Ser2611=)
2g.73489788C>ACA347264164ALMS1c.7448C>A (p.Ser2483Ter)
c.840C>A
c.4900C>A
c.1895C>A (p.Ser632Ter)
c.7829C>A (p.Ser2610Ter)
c.896-29987C>A
c.2660C>A (p.Ser887Ter)
c.7703C>A (p.Ser2568Ter)
n.1632C>A
c.7832C>A (p.Ser2611Ter)
2g.73489788C>GCA347264166ALMS1c.7448C>G (p.Ser2483Ter)
c.840C>G
c.4900C>G
c.1895C>G (p.Ser632Ter)
c.7829C>G (p.Ser2610Ter)
c.896-29987C>G
c.2660C>G (p.Ser887Ter)
c.7703C>G (p.Ser2568Ter)
n.1632C>G
c.7832C>G (p.Ser2611Ter)
2g.73489788C>TCA347264162ALMS1c.7448C>T (p.Ser2483Leu)
c.840C>T
c.4900C>T
c.1895C>T (p.Ser632Leu)
c.7829C>T (p.Ser2610Leu)
c.896-29987C>T
c.2660C>T (p.Ser887Leu)
c.7703C>T (p.Ser2568Leu)
n.1632C>T
c.7832C>T (p.Ser2611Leu)
 gnomAD v4
2g.73489789A>CCA426765878ALMS1c.7449A>C (p.Ser2483=)
c.841A>C
c.4901A>C
c.1896A>C (p.Ser632=)
c.7830A>C (p.Ser2610=)
c.896-29986A>C
c.2661A>C (p.Ser887=)
c.7704A>C (p.Ser2568=)
n.1633A>C
c.7833A>C (p.Ser2611=)
2g.73489789A>GCA426765879ALMS1c.7449A>G (p.Ser2483=)
c.841A>G
c.4901A>G
c.1896A>G (p.Ser632=)
c.7830A>G (p.Ser2610=)
c.896-29986A>G
c.2661A>G (p.Ser887=)
c.7704A>G (p.Ser2568=)
n.1633A>G
c.7833A>G (p.Ser2611=)
 ClinVar
2g.73489789A>TCA426765880ALMS1c.7449A>T (p.Ser2483=)
c.841A>T
c.4901A>T
c.1896A>T (p.Ser632=)
c.7830A>T (p.Ser2610=)
c.896-29986A>T
c.2661A>T (p.Ser887=)
c.7704A>T (p.Ser2568=)
n.1633A>T
c.7833A>T (p.Ser2611=)
2g.73489790G>ACA347264167ALMS1c.7450G>A (p.Glu2484Lys)
c.842G>A
c.4902G>A
c.1897G>A (p.Glu633Lys)
c.7831G>A (p.Glu2611Lys)
c.896-29985G>A
c.2662G>A (p.Glu888Lys)
c.7705G>A (p.Glu2569Lys)
n.1634G>A
c.7834G>A (p.Glu2612Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.73489790G>CCA347264169ALMS1c.7450G>C (p.Glu2484Gln)
c.842G>C
c.4902G>C
c.1897G>C (p.Glu633Gln)
c.7831G>C (p.Glu2611Gln)
c.896-29985G>C
c.2662G>C (p.Glu888Gln)
c.7705G>C (p.Glu2569Gln)
n.1634G>C
c.7834G>C (p.Glu2612Gln)
2g.73489790G=CA1260981160ALMS1c.7450G= (p.Glu2484=)
c.842G=
c.4902G=
c.1897G= (p.Glu633=)
c.7831G= (p.Glu2611=)
c.896-29985G=
c.2662G= (p.Glu888=)
c.7705G= (p.Glu2569=)
n.1634G=
c.7834G= (p.Glu2612=)
2g.73489790G>TCA347264170ALMS1c.7450G>T (p.Glu2484Ter)
c.842G>T
c.4902G>T
c.1897G>T (p.Glu633Ter)
c.7831G>T (p.Glu2611Ter)
c.896-29985G>T
c.2662G>T (p.Glu888Ter)
c.7705G>T (p.Glu2569Ter)
n.1634G>T
c.7834G>T (p.Glu2612Ter)
2g.73489791A>CCA347264172ALMS1c.7451A>C (p.Glu2484Ala)
c.843A>C
c.4903A>C
c.1898A>C (p.Glu633Ala)
c.7832A>C (p.Glu2611Ala)
c.896-29984A>C
c.2663A>C (p.Glu888Ala)
c.7706A>C (p.Glu2569Ala)
n.1635A>C
c.7835A>C (p.Glu2612Ala)
2g.73489791A>GCA347264174ALMS1c.7451A>G (p.Glu2484Gly)
c.843A>G
c.4903A>G
c.1898A>G (p.Glu633Gly)
c.7832A>G (p.Glu2611Gly)
c.896-29984A>G
c.2663A>G (p.Glu888Gly)
c.7706A>G (p.Glu2569Gly)
n.1635A>G
c.7835A>G (p.Glu2612Gly)
2g.73489791A>TCA347264175ALMS1c.7451A>T (p.Glu2484Val)
c.843A>T
c.4903A>T
c.1898A>T (p.Glu633Val)
c.7832A>T (p.Glu2611Val)
c.896-29984A>T
c.2663A>T (p.Glu888Val)
c.7706A>T (p.Glu2569Val)
n.1635A>T
c.7835A>T (p.Glu2612Val)
2g.73489792A>CCA347264178ALMS1c.7452A>C (p.Glu2484Asp)
c.844A>C
c.4904A>C
c.1899A>C (p.Glu633Asp)
c.7833A>C (p.Glu2611Asp)
c.896-29983A>C
c.2664A>C (p.Glu888Asp)
c.7707A>C (p.Glu2569Asp)
n.1636A>C
c.7836A>C (p.Glu2612Asp)
2g.73489792A>GCA426765890ALMS1c.7452A>G (p.Glu2484=)
c.844A>G
c.4904A>G
c.1899A>G (p.Glu633=)
c.7833A>G (p.Glu2611=)
c.896-29983A>G
c.2664A>G (p.Glu888=)
c.7707A>G (p.Glu2569=)
n.1636A>G
c.7836A>G (p.Glu2612=)
2g.73489792A>TCA347264176ALMS1c.7452A>T (p.Glu2484Asp)
c.844A>T
c.4904A>T
c.1899A>T (p.Glu633Asp)
c.7833A>T (p.Glu2611Asp)
c.896-29983A>T
c.2664A>T (p.Glu888Asp)
c.7707A>T (p.Glu2569Asp)
n.1636A>T
c.7836A>T (p.Glu2612Asp)
2g.73489793A>CCA347264180ALMS1c.7453A>C (p.Met2485Leu)
c.845A>C
c.4905A>C
c.1900A>C (p.Met634Leu)
c.7834A>C (p.Met2612Leu)
c.896-29982A>C
c.2665A>C (p.Met889Leu)
c.7708A>C (p.Met2570Leu)
n.1637A>C
c.7837A>C (p.Met2613Leu)
2g.73489793A>GCA347264181ALMS1c.7453A>G (p.Met2485Val)
c.845A>G
c.4905A>G
c.1900A>G (p.Met634Val)
c.7834A>G (p.Met2612Val)
c.896-29982A>G
c.2665A>G (p.Met889Val)
c.7708A>G (p.Met2570Val)
n.1637A>G
c.7837A>G (p.Met2613Val)
2g.73489793A>TCA347264183ALMS1c.7453A>T (p.Met2485Leu)
c.845A>T
c.4905A>T
c.1900A>T (p.Met634Leu)
c.7834A>T (p.Met2612Leu)
c.896-29982A>T
c.2665A>T (p.Met889Leu)
c.7708A>T (p.Met2570Leu)
n.1637A>T
c.7837A>T (p.Met2613Leu)
2g.73489794T>ACA347264185ALMS1c.7454T>A (p.Met2485Lys)
c.846T>A
c.4906T>A
c.1901T>A (p.Met634Lys)
c.7835T>A (p.Met2612Lys)
c.896-29981T>A
c.2666T>A (p.Met889Lys)
c.7709T>A (p.Met2570Lys)
n.1638T>A
c.7838T>A (p.Met2613Lys)
2g.73489794T>CCA347264186ALMS1c.7454T>C (p.Met2485Thr)
c.846T>C
c.4906T>C
c.1901T>C (p.Met634Thr)
c.7835T>C (p.Met2612Thr)
c.896-29981T>C
c.2666T>C (p.Met889Thr)
c.7709T>C (p.Met2570Thr)
n.1638T>C
c.7838T>C (p.Met2613Thr)
2g.73489794T>GCA347264188ALMS1c.7454T>G (p.Met2485Arg)
c.846T>G
c.4906T>G
c.1901T>G (p.Met634Arg)
c.7835T>G (p.Met2612Arg)
c.896-29981T>G
c.2666T>G (p.Met889Arg)
c.7709T>G (p.Met2570Arg)
n.1638T>G
c.7838T>G (p.Met2613Arg)
2g.73489795G>ACA347265884ALMS1c.7455G>A (p.Met2485Ile)
c.847G>A
c.4907G>A
c.1902G>A (p.Met634Ile)
c.7836G>A (p.Met2612Ile)
c.896-29980G>A
c.2667G>A (p.Met889Ile)
c.7710G>A (p.Met2570Ile)
n.1639G>A
c.7839G>A (p.Met2613Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489795G>CCA347265889ALMS1c.7455G>C (p.Met2485Ile)
c.847G>C
c.4907G>C
c.1902G>C (p.Met634Ile)
c.7836G>C (p.Met2612Ile)
c.896-29980G>C
c.2667G>C (p.Met889Ile)
c.7710G>C (p.Met2570Ile)
n.1639G>C
c.7839G>C (p.Met2613Ile)
2g.73489795G=CA1260981161ALMS1c.7455G= (p.Met2485=)
c.847G=
c.4907G=
c.1902G= (p.Met634=)
c.7836G= (p.Met2612=)
c.896-29980G=
c.2667G= (p.Met889=)
c.7710G= (p.Met2570=)
n.1639G=
c.7839G= (p.Met2613=)
2g.73489795G>TCA347265887ALMS1c.7455G>T (p.Met2485Ile)
c.847G>T
c.4907G>T
c.1902G>T (p.Met634Ile)
c.7836G>T (p.Met2612Ile)
c.896-29980G>T
c.2667G>T (p.Met889Ile)
c.7710G>T (p.Met2570Ile)
n.1639G>T
c.7839G>T (p.Met2613Ile)
 gnomAD v4
2g.73489796A>CCA347265890ALMS1c.7456A>C (p.Thr2486Pro)
c.848A>C
c.4908A>C
c.1903A>C (p.Thr635Pro)
c.7837A>C (p.Thr2613Pro)
c.896-29979A>C
c.2668A>C (p.Thr890Pro)
c.7711A>C (p.Thr2571Pro)
n.1640A>C
c.7840A>C (p.Thr2614Pro)
2g.73489796A>GCA347265895ALMS1c.7456A>G (p.Thr2486Ala)
c.848A>G
c.4908A>G
c.1903A>G (p.Thr635Ala)
c.7837A>G (p.Thr2613Ala)
c.896-29979A>G
c.2668A>G (p.Thr890Ala)
c.7711A>G (p.Thr2571Ala)
n.1640A>G
c.7840A>G (p.Thr2614Ala)
2g.73489796A>TCA347265899ALMS1c.7456A>T (p.Thr2486Ser)
c.848A>T
c.4908A>T
c.1903A>T (p.Thr635Ser)
c.7837A>T (p.Thr2613Ser)
c.896-29979A>T
c.2668A>T (p.Thr890Ser)
c.7711A>T (p.Thr2571Ser)
n.1640A>T
c.7840A>T (p.Thr2614Ser)
 gnomAD v4
2g.73489797C>ACA347265904ALMS1c.7457C>A (p.Thr2486Asn)
c.849C>A
c.4909C>A
c.1904C>A (p.Thr635Asn)
c.7838C>A (p.Thr2613Asn)
c.896-29978C>A
c.2669C>A (p.Thr890Asn)
c.7712C>A (p.Thr2571Asn)
n.1641C>A
c.7841C>A (p.Thr2614Asn)
2g.73489797C>GCA347265909ALMS1c.7457C>G (p.Thr2486Ser)
c.849C>G
c.4909C>G
c.1904C>G (p.Thr635Ser)
c.7838C>G (p.Thr2613Ser)
c.896-29978C>G
c.2669C>G (p.Thr890Ser)
c.7712C>G (p.Thr2571Ser)
n.1641C>G
c.7841C>G (p.Thr2614Ser)
2g.73489797C>TCA347265911ALMS1c.7457C>T (p.Thr2486Ile)
c.849C>T
c.4909C>T
c.1904C>T (p.Thr635Ile)
c.7838C>T (p.Thr2613Ile)
c.896-29978C>T
c.2669C>T (p.Thr890Ile)
c.7712C>T (p.Thr2571Ile)
n.1641C>T
c.7841C>T (p.Thr2614Ile)
 gnomAD v4
2g.73489798C>ACA427000635ALMS1c.7458C>A (p.Thr2486=)
c.850C>A
c.4910C>A
c.1905C>A (p.Thr635=)
c.7839C>A (p.Thr2613=)
c.896-29977C>A
c.2670C>A (p.Thr890=)
c.7713C>A (p.Thr2571=)
n.1642C>A
c.7842C>A (p.Thr2614=)
 ClinVar dbSNP
2g.73489798C=CA1260981162ALMS1c.7458C= (p.Thr2486=)
c.850C=
c.4910C=
c.1905C= (p.Thr635=)
c.7839C= (p.Thr2613=)
c.896-29977C=
c.2670C= (p.Thr890=)
c.7713C= (p.Thr2571=)
n.1642C=
c.7842C= (p.Thr2614=)
2g.73489798C>GCA427000636ALMS1c.7458C>G (p.Thr2486=)
c.850C>G
c.4910C>G
c.1905C>G (p.Thr635=)
c.7839C>G (p.Thr2613=)
c.896-29977C>G
c.2670C>G (p.Thr890=)
c.7713C>G (p.Thr2571=)
n.1642C>G
c.7842C>G (p.Thr2614=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73489798C>TCA1714356ALMS1c.7458C>T (p.Thr2486=)
c.850C>T
c.4910C>T
c.1905C>T (p.Thr635=)
c.7839C>T (p.Thr2613=)
c.896-29977C>T
c.2670C>T (p.Thr890=)
c.7713C>T (p.Thr2571=)
n.1642C>T
c.7842C>T (p.Thr2614=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489799_73489805delCA2586969426ALMS1c.7459_7465del (p.Arg2487GlyfsTer18)
c.851_857del
c.4911_4917del
c.1906_1912del (p.Arg636GlyfsTer18)
c.7840_7846del (p.Arg2614GlyfsTer18)
c.896-29976_896-29970del
c.2671_2677del (p.Arg891GlyfsTer18)
c.7714_7720del (p.Arg2572GlyfsTer18)
n.1643_1649del
c.7843_7849del (p.Arg2615GlyfsTer18)
2g.73489799A=CA1260981163ALMS1c.7459A= (p.Arg2487=)
c.851A=
c.4911A=
c.1906A= (p.Arg636=)
c.7840A= (p.Arg2614=)
c.896-29976A=
c.2671A= (p.Arg891=)
c.7714A= (p.Arg2572=)
n.1643A=
c.7843A= (p.Arg2615=)
2g.73489799A>CCA427000637ALMS1c.7459A>C (p.Arg2487=)
c.851A>C
c.4911A>C
c.1906A>C (p.Arg636=)
c.7840A>C (p.Arg2614=)
c.896-29976A>C
c.2671A>C (p.Arg891=)
c.7714A>C (p.Arg2572=)
n.1643A>C
c.7843A>C (p.Arg2615=)
2g.73489799A>GCA1714357ALMS1c.7459A>G (p.Arg2487Gly)
c.851A>G
c.4911A>G
c.1906A>G (p.Arg636Gly)
c.7840A>G (p.Arg2614Gly)
c.896-29976A>G
c.2671A>G (p.Arg891Gly)
c.7714A>G (p.Arg2572Gly)
n.1643A>G
c.7843A>G (p.Arg2615Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489799A>TCA347265920ALMS1c.7459A>T (p.Arg2487Ter)
c.851A>T
c.4911A>T
c.1906A>T (p.Arg636Ter)
c.7840A>T (p.Arg2614Ter)
c.896-29976A>T
c.2671A>T (p.Arg891Ter)
c.7714A>T (p.Arg2572Ter)
n.1643A>T
c.7843A>T (p.Arg2615Ter)
2g.73489800G>ACA347265923ALMS1c.7460G>A (p.Arg2487Lys)
c.852G>A
c.4912G>A
c.1907G>A (p.Arg636Lys)
c.7841G>A (p.Arg2614Lys)
c.896-29975G>A
c.2672G>A (p.Arg891Lys)
c.7715G>A (p.Arg2572Lys)
n.1644G>A
c.7844G>A (p.Arg2615Lys)
 ClinVar
2g.73489800G>CCA50377544ALMS1c.7460G>C (p.Arg2487Thr)
c.852G>C
c.4912G>C
c.1907G>C (p.Arg636Thr)
c.7841G>C (p.Arg2614Thr)
c.896-29975G>C
c.2672G>C (p.Arg891Thr)
c.7715G>C (p.Arg2572Thr)
n.1644G>C
c.7844G>C (p.Arg2615Thr)
 dbSNP
2g.73489800G=CA1260981164ALMS1c.7460G= (p.Arg2487=)
c.852G=
c.4912G=
c.1907G= (p.Arg636=)
c.7841G= (p.Arg2614=)
c.896-29975G=
c.2672G= (p.Arg891=)
c.7715G= (p.Arg2572=)
n.1644G=
c.7844G= (p.Arg2615=)
2g.73489800G>TCA347265926ALMS1c.7460G>T (p.Arg2487Ile)
c.852G>T
c.4912G>T
c.1907G>T (p.Arg636Ile)
c.7841G>T (p.Arg2614Ile)
c.896-29975G>T
c.2672G>T (p.Arg891Ile)
c.7715G>T (p.Arg2572Ile)
n.1644G>T
c.7844G>T (p.Arg2615Ile)
2g.73489801A=CA1260981165ALMS1c.7461A= (p.Arg2487=)
c.853A=
c.4913A=
c.1908A= (p.Arg636=)
c.7842A= (p.Arg2614=)
c.896-29974A=
c.2673A= (p.Arg891=)
c.7716A= (p.Arg2572=)
n.1645A=
c.7845A= (p.Arg2615=)
2g.73489801A>CCA347265931ALMS1c.7461A>C (p.Arg2487Ser)
c.853A>C
c.4913A>C
c.1908A>C (p.Arg636Ser)
c.7842A>C (p.Arg2614Ser)
c.896-29974A>C
c.2673A>C (p.Arg891Ser)
c.7716A>C (p.Arg2572Ser)
n.1645A>C
c.7845A>C (p.Arg2615Ser)
2g.73489801A>GCA427000638ALMS1c.7461A>G (p.Arg2487=)
c.853A>G
c.4913A>G
c.1908A>G (p.Arg636=)
c.7842A>G (p.Arg2614=)
c.896-29974A>G
c.2673A>G (p.Arg891=)
c.7716A>G (p.Arg2572=)
n.1645A>G
c.7845A>G (p.Arg2615=)
 dbSNP gnomAD v4
2g.73489801A>TCA347265928ALMS1c.7461A>T (p.Arg2487Ser)
c.853A>T
c.4913A>T
c.1908A>T (p.Arg636Ser)
c.7842A>T (p.Arg2614Ser)
c.896-29974A>T
c.2673A>T (p.Arg891Ser)
c.7716A>T (p.Arg2572Ser)
n.1645A>T
c.7845A>T (p.Arg2615Ser)
2g.73489802G>ACA347265934ALMS1c.7462G>A (p.Gly2488Arg)
c.854G>A
c.4914G>A
c.1909G>A (p.Gly637Arg)
c.7843G>A (p.Gly2615Arg)
c.896-29973G>A
c.2674G>A (p.Gly892Arg)
c.7717G>A (p.Gly2573Arg)
n.1646G>A
c.7846G>A (p.Gly2616Arg)
 ClinVar
2g.73489802G>CCA347265938ALMS1c.7462G>C (p.Gly2488Arg)
c.854G>C
c.4914G>C
c.1909G>C (p.Gly637Arg)
c.7843G>C (p.Gly2615Arg)
c.896-29973G>C
c.2674G>C (p.Gly892Arg)
c.7717G>C (p.Gly2573Arg)
n.1646G>C
c.7846G>C (p.Gly2616Arg)
2g.73489802G>TCA347265936ALMS1c.7462G>T (p.Gly2488Ter)
c.854G>T
c.4914G>T
c.1909G>T (p.Gly637Ter)
c.7843G>T (p.Gly2615Ter)
c.896-29973G>T
c.2674G>T (p.Gly892Ter)
c.7717G>T (p.Gly2573Ter)
n.1646G>T
c.7846G>T (p.Gly2616Ter)
2g.73489803G>ACA347265941ALMS1c.7463G>A (p.Gly2488Glu)
c.855G>A
c.4915G>A
c.1910G>A (p.Gly637Glu)
c.7844G>A (p.Gly2615Glu)
c.896-29972G>A
c.2675G>A (p.Gly892Glu)
c.7718G>A (p.Gly2573Glu)
n.1647G>A
c.7847G>A (p.Gly2616Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73489803G>CCA347265946ALMS1c.7463G>C (p.Gly2488Ala)
c.855G>C
c.4915G>C
c.1910G>C (p.Gly637Ala)
c.7844G>C (p.Gly2615Ala)
c.896-29972G>C
c.2675G>C (p.Gly892Ala)
c.7718G>C (p.Gly2573Ala)
n.1647G>C
c.7847G>C (p.Gly2616Ala)
2g.73489803G=CA1260981166ALMS1c.7463G= (p.Gly2488=)
c.855G=
c.4915G=
c.1910G= (p.Gly637=)
c.7844G= (p.Gly2615=)
c.896-29972G=
c.2675G= (p.Gly892=)
c.7718G= (p.Gly2573=)
n.1647G=
c.7847G= (p.Gly2616=)
2g.73489803G>TCA347265944ALMS1c.7463G>T (p.Gly2488Val)
c.855G>T
c.4915G>T
c.1910G>T (p.Gly637Val)
c.7844G>T (p.Gly2615Val)
c.896-29972G>T
c.2675G>T (p.Gly892Val)
c.7718G>T (p.Gly2573Val)
n.1647G>T
c.7847G>T (p.Gly2616Val)
2g.73489804A>CCA427000640ALMS1c.7464A>C (p.Gly2488=)
c.856A>C
c.4916A>C
c.1911A>C (p.Gly637=)
c.7845A>C (p.Gly2615=)
c.896-29971A>C
c.2676A>C (p.Gly892=)
c.7719A>C (p.Gly2573=)
n.1648A>C
c.7848A>C (p.Gly2616=)
2g.73489804A>GCA427000641ALMS1c.7464A>G (p.Gly2488=)
c.856A>G
c.4916A>G
c.1911A>G (p.Gly637=)
c.7845A>G (p.Gly2615=)
c.896-29971A>G
c.2676A>G (p.Gly892=)
c.7719A>G (p.Gly2573=)
n.1648A>G
c.7848A>G (p.Gly2616=)
 gnomAD v4
2g.73489804A>TCA427000639ALMS1c.7464A>T (p.Gly2488=)
c.856A>T
c.4916A>T
c.1911A>T (p.Gly637=)
c.7845A>T (p.Gly2615=)
c.896-29971A>T
c.2676A>T (p.Gly892=)
c.7719A>T (p.Gly2573=)
n.1648A>T
c.7848A>T (p.Gly2616=)
2g.73489805C>ACA427000642ALMS1c.7465C>A (p.Arg2489=)
c.857C>A
c.4917C>A
c.1912C>A (p.Arg638=)
c.7846C>A (p.Arg2616=)
c.896-29970C>A
c.2677C>A (p.Arg893=)
c.7720C>A (p.Arg2574=)
n.1649C>A
c.7849C>A (p.Arg2617=)
 gnomAD v4
2g.73489805C=CA1260981167ALMS1c.7465C= (p.Arg2489=)
c.857C=
c.4917C=
c.1912C= (p.Arg638=)
c.7846C= (p.Arg2616=)
c.896-29970C=
c.2677C= (p.Arg893=)
c.7720C= (p.Arg2574=)
n.1649C=
c.7849C= (p.Arg2617=)
2g.73489805C>GCA347265948ALMS1c.7465C>G (p.Arg2489Gly)
c.857C>G
c.4917C>G
c.1912C>G (p.Arg638Gly)
c.7846C>G (p.Arg2616Gly)
c.896-29970C>G
c.2677C>G (p.Arg893Gly)
c.7720C>G (p.Arg2574Gly)
n.1649C>G
c.7849C>G (p.Arg2617Gly)
2g.73489805C>TCA1714358ALMS1c.7465C>T (p.Arg2489Trp)
c.857C>T
c.4917C>T
c.1912C>T (p.Arg638Trp)
c.7846C>T (p.Arg2616Trp)
c.896-29970C>T
c.2677C>T (p.Arg893Trp)
c.7720C>T (p.Arg2574Trp)
n.1649C>T
c.7849C>T (p.Arg2617Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489806G>ACA347265954ALMS1c.7466G>A (p.Arg2489Gln)
c.858G>A
c.4918G>A
c.1913G>A (p.Arg638Gln)
c.7847G>A (p.Arg2616Gln)
c.896-29969G>A
c.2678G>A (p.Arg893Gln)
c.7721G>A (p.Arg2574Gln)
n.1650G>A
c.7850G>A (p.Arg2617Gln)
 ClinVar dbSNP gnomAD v4
2g.73489806G>CCA347265957ALMS1c.7466G>C (p.Arg2489Pro)
c.858G>C
c.4918G>C
c.1913G>C (p.Arg638Pro)
c.7847G>C (p.Arg2616Pro)
c.896-29969G>C
c.2678G>C (p.Arg893Pro)
c.7721G>C (p.Arg2574Pro)
n.1650G>C
c.7850G>C (p.Arg2617Pro)
2g.73489806G=CA1260981168ALMS1c.7466G= (p.Arg2489=)
c.858G=
c.4918G=
c.1913G= (p.Arg638=)
c.7847G= (p.Arg2616=)
c.896-29969G=
c.2678G= (p.Arg893=)
c.7721G= (p.Arg2574=)
n.1650G=
c.7850G= (p.Arg2617=)
2g.73489806G>TCA347265959ALMS1c.7466G>T (p.Arg2489Leu)
c.858G>T
c.4918G>T
c.1913G>T (p.Arg638Leu)
c.7847G>T (p.Arg2616Leu)
c.896-29969G>T
c.2678G>T (p.Arg893Leu)
c.7721G>T (p.Arg2574Leu)
n.1650G>T
c.7850G>T (p.Arg2617Leu)
2g.73489807G>ACA427000643ALMS1c.7467G>A (p.Arg2489=)
c.859G>A
c.4919G>A
c.1914G>A (p.Arg638=)
c.7848G>A (p.Arg2616=)
c.896-29968G>A
c.2679G>A (p.Arg893=)
c.7722G>A (p.Arg2574=)
n.1651G>A
c.7851G>A (p.Arg2617=)
2g.73489807G>CCA427000644ALMS1c.7467G>C (p.Arg2489=)
c.859G>C
c.4919G>C
c.1914G>C (p.Arg638=)
c.7848G>C (p.Arg2616=)
c.896-29968G>C
c.2679G>C (p.Arg893=)
c.7722G>C (p.Arg2574=)
n.1651G>C
c.7851G>C (p.Arg2617=)
2g.73489807G>TCA427000645ALMS1c.7467G>T (p.Arg2489=)
c.859G>T
c.4919G>T
c.1914G>T (p.Arg638=)
c.7848G>T (p.Arg2616=)
c.896-29968G>T
c.2679G>T (p.Arg893=)
c.7722G>T (p.Arg2574=)
n.1651G>T
c.7851G>T (p.Arg2617=)
 gnomAD v4
2g.73489808C>ACA347265962ALMS1c.7468C>A (p.Gln2490Lys)
c.860C>A
c.4920C>A
c.1915C>A (p.Gln639Lys)
c.7849C>A (p.Gln2617Lys)
c.896-29967C>A
c.2680C>A (p.Gln894Lys)
c.7723C>A (p.Gln2575Lys)
n.1652C>A
c.7852C>A (p.Gln2618Lys)
2g.73489808C>GCA347265965ALMS1c.7468C>G (p.Gln2490Glu)
c.860C>G
c.4920C>G
c.1915C>G (p.Gln639Glu)
c.7849C>G (p.Gln2617Glu)
c.896-29967C>G
c.2680C>G (p.Gln894Glu)
c.7723C>G (p.Gln2575Glu)
n.1652C>G
c.7852C>G (p.Gln2618Glu)
2g.73489808C>TCA347265967ALMS1c.7468C>T (p.Gln2490Ter)
c.860C>T
c.4920C>T
c.1915C>T (p.Gln639Ter)
c.7849C>T (p.Gln2617Ter)
c.896-29967C>T
c.2680C>T (p.Gln894Ter)
c.7723C>T (p.Gln2575Ter)
n.1652C>T
c.7852C>T (p.Gln2618Ter)
2g.73489809A=CA1260981169ALMS1c.7469A= (p.Gln2490=)
c.861A=
c.4921A=
c.1916A= (p.Gln639=)
c.7850A= (p.Gln2617=)
c.896-29966A=
c.2681A= (p.Gln894=)
c.7724A= (p.Gln2575=)
n.1653A=
c.7853A= (p.Gln2618=)
2g.73489809A>CCA347265969ALMS1c.7469A>C (p.Gln2490Pro)
c.861A>C
c.4921A>C
c.1916A>C (p.Gln639Pro)
c.7850A>C (p.Gln2617Pro)
c.896-29966A>C
c.2681A>C (p.Gln894Pro)
c.7724A>C (p.Gln2575Pro)
n.1653A>C
c.7853A>C (p.Gln2618Pro)
2g.73489809A>GCA1714359ALMS1c.7469A>G (p.Gln2490Arg)
c.861A>G
c.4921A>G
c.1916A>G (p.Gln639Arg)
c.7850A>G (p.Gln2617Arg)
c.896-29966A>G
c.2681A>G (p.Gln894Arg)
c.7724A>G (p.Gln2575Arg)
n.1653A>G
c.7853A>G (p.Gln2618Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489809A>TCA347265974ALMS1c.7469A>T (p.Gln2490Leu)
c.861A>T
c.4921A>T
c.1916A>T (p.Gln639Leu)
c.7850A>T (p.Gln2617Leu)
c.896-29966A>T
c.2681A>T (p.Gln894Leu)
c.7724A>T (p.Gln2575Leu)
n.1653A>T
c.7853A>T (p.Gln2618Leu)
2g.73489810G>ACA427000646ALMS1c.7470G>A (p.Gln2490=)
c.862G>A
c.4922G>A
c.1917G>A (p.Gln639=)
c.7851G>A (p.Gln2617=)
c.896-29965G>A
c.2682G>A (p.Gln894=)
c.7725G>A (p.Gln2575=)
n.1654G>A
c.7854G>A (p.Gln2618=)
 dbSNP gnomAD v2 gnomAD v4
2g.73489810G>CCA347265978ALMS1c.7470G>C (p.Gln2490His)
c.862G>C
c.4922G>C
c.1917G>C (p.Gln639His)
c.7851G>C (p.Gln2617His)
c.896-29965G>C
c.2682G>C (p.Gln894His)
c.7725G>C (p.Gln2575His)
n.1654G>C
c.7854G>C (p.Gln2618His)
 gnomAD v4
2g.73489810G=CA1260981170ALMS1c.7470G= (p.Gln2490=)
c.862G=
c.4922G=
c.1917G= (p.Gln639=)
c.7851G= (p.Gln2617=)
c.896-29965G=
c.2682G= (p.Gln894=)
c.7725G= (p.Gln2575=)
n.1654G=
c.7854G= (p.Gln2618=)
2g.73489810G>TCA347265977ALMS1c.7470G>T (p.Gln2490His)
c.862G>T
c.4922G>T
c.1917G>T (p.Gln639His)
c.7851G>T (p.Gln2617His)
c.896-29965G>T
c.2682G>T (p.Gln894His)
c.7725G>T (p.Gln2575His)
n.1654G>T
c.7854G>T (p.Gln2618His)
2g.73489811A>CCA347265982ALMS1c.7471A>C (p.Asn2491His)
c.863A>C
c.4923A>C
c.1918A>C (p.Asn640His)
c.7852A>C (p.Asn2618His)
c.896-29964A>C
c.2683A>C (p.Asn895His)
c.7726A>C (p.Asn2576His)
n.1655A>C
c.7855A>C (p.Asn2619His)
2g.73489811A>GCA347265985ALMS1c.7471A>G (p.Asn2491Asp)
c.863A>G
c.4923A>G
c.1918A>G (p.Asn640Asp)
c.7852A>G (p.Asn2618Asp)
c.896-29964A>G
c.2683A>G (p.Asn895Asp)
c.7726A>G (p.Asn2576Asp)
n.1655A>G
c.7855A>G (p.Asn2619Asp)
2g.73489811A>TCA347265987ALMS1c.7471A>T (p.Asn2491Tyr)
c.863A>T
c.4923A>T
c.1918A>T (p.Asn640Tyr)
c.7852A>T (p.Asn2618Tyr)
c.896-29964A>T
c.2683A>T (p.Asn895Tyr)
c.7726A>T (p.Asn2576Tyr)
n.1655A>T
c.7855A>T (p.Asn2619Tyr)
2g.73489812A>CCA347265989ALMS1c.7472A>C (p.Asn2491Thr)
c.864A>C
c.4924A>C
c.1919A>C (p.Asn640Thr)
c.7853A>C (p.Asn2618Thr)
c.896-29963A>C
c.2684A>C (p.Asn895Thr)
c.7727A>C (p.Asn2576Thr)
n.1656A>C
c.7856A>C (p.Asn2619Thr)
2g.73489812A>GCA347265992ALMS1c.7472A>G (p.Asn2491Ser)
c.864A>G
c.4924A>G
c.1919A>G (p.Asn640Ser)
c.7853A>G (p.Asn2618Ser)
c.896-29963A>G
c.2684A>G (p.Asn895Ser)
c.7727A>G (p.Asn2576Ser)
n.1656A>G
c.7856A>G (p.Asn2619Ser)
 gnomAD v4
2g.73489812A>TCA347265995ALMS1c.7472A>T (p.Asn2491Ile)
c.864A>T
c.4924A>T
c.1919A>T (p.Asn640Ile)
c.7853A>T (p.Asn2618Ile)
c.896-29963A>T
c.2684A>T (p.Asn895Ile)
c.7727A>T (p.Asn2576Ile)
n.1656A>T
c.7856A>T (p.Asn2619Ile)
 gnomAD v4
2g.73489813C>ACA347265998ALMS1c.7473C>A (p.Asn2491Lys)
c.865C>A
c.4925C>A
c.1920C>A (p.Asn640Lys)
c.7854C>A (p.Asn2618Lys)
c.896-29962C>A
c.2685C>A (p.Asn895Lys)
c.7728C>A (p.Asn2576Lys)
n.1657C>A
c.7857C>A (p.Asn2619Lys)
2g.73489813C=CA1260981171ALMS1c.7473C= (p.Asn2491=)
c.865C=
c.4925C=
c.1920C= (p.Asn640=)
c.7854C= (p.Asn2618=)
c.896-29962C=
c.2685C= (p.Asn895=)
c.7728C= (p.Asn2576=)
n.1657C=
c.7857C= (p.Asn2619=)
2g.73489813C>GCA347266001ALMS1c.7473C>G (p.Asn2491Lys)
c.865C>G
c.4925C>G
c.1920C>G (p.Asn640Lys)
c.7854C>G (p.Asn2618Lys)
c.896-29962C>G
c.2685C>G (p.Asn895Lys)
c.7728C>G (p.Asn2576Lys)
n.1657C>G
c.7857C>G (p.Asn2619Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489813C>TCA427000647ALMS1c.7473C>T (p.Asn2491=)
c.865C>T
c.4925C>T
c.1920C>T (p.Asn640=)
c.7854C>T (p.Asn2618=)
c.896-29962C>T
c.2685C>T (p.Asn895=)
c.7728C>T (p.Asn2576=)
n.1657C>T
c.7857C>T (p.Asn2619=)
 ClinVar
2g.73489814C>ACA347266003ALMS1c.7474C>A (p.Pro2492Thr)
c.866C>A
c.4926C>A
c.1921C>A (p.Pro641Thr)
c.7855C>A (p.Pro2619Thr)
c.896-29961C>A
c.2686C>A (p.Pro896Thr)
c.7729C>A (p.Pro2577Thr)
n.1658C>A
c.7858C>A (p.Pro2620Thr)
2g.73489814C=CA1260981173ALMS1c.7474C= (p.Pro2492=)
c.866C=
c.4926C=
c.1921C= (p.Pro641=)
c.7855C= (p.Pro2619=)
c.896-29961C=
c.2686C= (p.Pro896=)
c.7729C= (p.Pro2577=)
n.1658C=
c.7858C= (p.Pro2620=)
2g.73489814C>GCA347266004ALMS1c.7474C>G (p.Pro2492Ala)
c.866C>G
c.4926C>G
c.1921C>G (p.Pro641Ala)
c.7855C>G (p.Pro2619Ala)
c.896-29961C>G
c.2686C>G (p.Pro896Ala)
c.7729C>G (p.Pro2577Ala)
n.1658C>G
c.7858C>G (p.Pro2620Ala)
2g.73489814C>TCA347266005ALMS1c.7474C>T (p.Pro2492Ser)
c.866C>T
c.4926C>T
c.1921C>T (p.Pro641Ser)
c.7855C>T (p.Pro2619Ser)
c.896-29961C>T
c.2686C>T (p.Pro896Ser)
c.7729C>T (p.Pro2577Ser)
n.1658C>T
c.7858C>T (p.Pro2620Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489814_73489817delinsCCATCA1260981172ALMS1c.7474_7477delinsCCAT (p.Pro2492=)
c.866_869delinsCCAT
c.4926_4929delinsCCAT
c.1921_1924delinsCCAT (p.Pro641=)
c.7855_7858delinsCCAT (p.Pro2619=)
c.896-29961_896-29958delinsCCAT
c.2686_2689delinsCCAT (p.Pro896=)
c.7729_7732delinsCCAT (p.Pro2577=)
n.1658_1661delinsCCAT
c.7858_7861delinsCCAT (p.Pro2620=)
2g.73489815C>ACA347266013ALMS1c.7475C>A (p.Pro2492Gln)
c.867C>A
c.4927C>A
c.1922C>A (p.Pro641Gln)
c.7856C>A (p.Pro2619Gln)
c.896-29960C>A
c.2687C>A (p.Pro896Gln)
c.7730C>A (p.Pro2577Gln)
n.1659C>A
c.7859C>A (p.Pro2620Gln)
2g.73489815C=CA1260981174ALMS1c.7475C= (p.Pro2492=)
c.867C=
c.4927C=
c.1922C= (p.Pro641=)
c.7856C= (p.Pro2619=)
c.896-29960C=
c.2687C= (p.Pro896=)
c.7730C= (p.Pro2577=)
n.1659C=
c.7859C= (p.Pro2620=)
2g.73489815C>GCA347266015ALMS1c.7475C>G (p.Pro2492Arg)
c.867C>G
c.4927C>G
c.1922C>G (p.Pro641Arg)
c.7856C>G (p.Pro2619Arg)
c.896-29960C>G
c.2687C>G (p.Pro896Arg)
c.7730C>G (p.Pro2577Arg)
n.1659C>G
c.7859C>G (p.Pro2620Arg)
 ClinVar dbSNP
2g.73489815C>TCA347266007ALMS1c.7475C>T (p.Pro2492Leu)
c.867C>T
c.4927C>T
c.1922C>T (p.Pro641Leu)
c.7856C>T (p.Pro2619Leu)
c.896-29960C>T
c.2687C>T (p.Pro896Leu)
c.7730C>T (p.Pro2577Leu)
n.1659C>T
c.7859C>T (p.Pro2620Leu)
 gnomAD v4
2g.73489821_73489823delCA534125522ALMS1c.7481_7483del (p.Ser2494del)
c.873_875del
c.4933_4935del
c.1928_1930del (p.Ser643del)
c.7862_7864del (p.Ser2621del)
c.896-29954_896-29952del
c.2693_2695del (p.Ser898del)
c.7736_7738del (p.Ser2579del)
n.1665_1667del
c.7865_7867del (p.Ser2622del)
 dbSNP gnomAD v2
2g.73489816A=CA1260981175ALMS1c.7476A= (p.Pro2492=)
c.868A=
c.4928A=
c.1923A= (p.Pro641=)
c.7857A= (p.Pro2619=)
c.896-29959A=
c.2688A= (p.Pro896=)
c.7731A= (p.Pro2577=)
n.1660A=
c.7860A= (p.Pro2620=)
2g.73489816A>CCA427000648ALMS1c.7476A>C (p.Pro2492=)
c.868A>C
c.4928A>C
c.1923A>C (p.Pro641=)
c.7857A>C (p.Pro2619=)
c.896-29959A>C
c.2688A>C (p.Pro896=)
c.7731A>C (p.Pro2577=)
n.1660A>C
c.7860A>C (p.Pro2620=)
2g.73489816A>GCA427000649ALMS1c.7476A>G (p.Pro2492=)
c.868A>G
c.4928A>G
c.1923A>G (p.Pro641=)
c.7857A>G (p.Pro2619=)
c.896-29959A>G
c.2688A>G (p.Pro896=)
c.7731A>G (p.Pro2577=)
n.1660A>G
c.7860A>G (p.Pro2620=)
 dbSNP gnomAD v4
2g.73489816A>TCA427000650ALMS1c.7476A>T (p.Pro2492=)
c.868A>T
c.4928A>T
c.1923A>T (p.Pro641=)
c.7857A>T (p.Pro2619=)
c.896-29959A>T
c.2688A>T (p.Pro896=)
c.7731A>T (p.Pro2577=)
n.1660A>T
c.7860A>T (p.Pro2620=)
2g.73489817T>ACA347266016ALMS1c.7477T>A (p.Ser2493Thr)
c.869T>A
c.4929T>A
c.1924T>A (p.Ser642Thr)
c.7858T>A (p.Ser2620Thr)
c.896-29958T>A
c.2689T>A (p.Ser897Thr)
c.7732T>A (p.Ser2578Thr)
n.1661T>A
c.7861T>A (p.Ser2621Thr)
 dbSNP
2g.73489817T>CCA347266018ALMS1c.7477T>C (p.Ser2493Pro)
c.869T>C
c.4929T>C
c.1924T>C (p.Ser642Pro)
c.7858T>C (p.Ser2620Pro)
c.896-29958T>C
c.2689T>C (p.Ser897Pro)
c.7732T>C (p.Ser2578Pro)
n.1661T>C
c.7861T>C (p.Ser2621Pro)
2g.73489817T>GCA347266019ALMS1c.7477T>G (p.Ser2493Ala)
c.869T>G
c.4929T>G
c.1924T>G (p.Ser642Ala)
c.7858T>G (p.Ser2620Ala)
c.896-29958T>G
c.2689T>G (p.Ser897Ala)
c.7732T>G (p.Ser2578Ala)
n.1661T>G
c.7861T>G (p.Ser2621Ala)
2g.73489817T=CA1260981176ALMS1c.7477T= (p.Ser2493=)
c.869T=
c.4929T=
c.1924T= (p.Ser642=)
c.7858T= (p.Ser2620=)
c.896-29958T=
c.2689T= (p.Ser897=)
c.7732T= (p.Ser2578=)
n.1661T=
c.7861T= (p.Ser2621=)
2g.73489818C>ACA347266024ALMS1c.7478C>A (p.Ser2493Ter)
c.870C>A
c.4930C>A
c.1925C>A (p.Ser642Ter)
c.7859C>A (p.Ser2620Ter)
c.896-29957C>A
c.2690C>A (p.Ser897Ter)
c.7733C>A (p.Ser2578Ter)
n.1662C>A
c.7862C>A (p.Ser2621Ter)
2g.73489818C>GCA347266026ALMS1c.7478C>G (p.Ser2493Ter)
c.870C>G
c.4930C>G
c.1925C>G (p.Ser642Ter)
c.7859C>G (p.Ser2620Ter)
c.896-29957C>G
c.2690C>G (p.Ser897Ter)
c.7733C>G (p.Ser2578Ter)
n.1662C>G
c.7862C>G (p.Ser2621Ter)
2g.73489818C>TCA347266028ALMS1c.7478C>T (p.Ser2493Leu)
c.870C>T
c.4930C>T
c.1925C>T (p.Ser642Leu)
c.7859C>T (p.Ser2620Leu)
c.896-29957C>T
c.2690C>T (p.Ser897Leu)
c.7733C>T (p.Ser2578Leu)
n.1662C>T
c.7862C>T (p.Ser2621Leu)
2g.73489819A>CCA427000651ALMS1c.7479A>C (p.Ser2493=)
c.871A>C
c.4931A>C
c.1926A>C (p.Ser642=)
c.7860A>C (p.Ser2620=)
c.896-29956A>C
c.2691A>C (p.Ser897=)
c.7734A>C (p.Ser2578=)
n.1663A>C
c.7863A>C (p.Ser2621=)
2g.73489819A>GCA427000652ALMS1c.7479A>G (p.Ser2493=)
c.871A>G
c.4931A>G
c.1926A>G (p.Ser642=)
c.7860A>G (p.Ser2620=)
c.896-29956A>G
c.2691A>G (p.Ser897=)
c.7734A>G (p.Ser2578=)
n.1663A>G
c.7863A>G (p.Ser2621=)
2g.73489819A>TCA427000653ALMS1c.7479A>T (p.Ser2493=)
c.871A>T
c.4931A>T
c.1926A>T (p.Ser642=)
c.7860A>T (p.Ser2620=)
c.896-29956A>T
c.2691A>T (p.Ser897=)
c.7734A>T (p.Ser2578=)
n.1663A>T
c.7863A>T (p.Ser2621=)
2g.73489820T>ACA347266030ALMS1c.7480T>A (p.Ser2494Thr)
c.872T>A
c.4932T>A
c.1927T>A (p.Ser643Thr)
c.7861T>A (p.Ser2621Thr)
c.896-29955T>A
c.2692T>A (p.Ser898Thr)
c.7735T>A (p.Ser2579Thr)
n.1664T>A
c.7864T>A (p.Ser2622Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489820T>CCA347266033ALMS1c.7480T>C (p.Ser2494Pro)
c.872T>C
c.4932T>C
c.1927T>C (p.Ser643Pro)
c.7861T>C (p.Ser2621Pro)
c.896-29955T>C
c.2692T>C (p.Ser898Pro)
c.7735T>C (p.Ser2579Pro)
n.1664T>C
c.7864T>C (p.Ser2622Pro)
 gnomAD v4
2g.73489820T>GCA347266035ALMS1c.7480T>G (p.Ser2494Ala)
c.872T>G
c.4932T>G
c.1927T>G (p.Ser643Ala)
c.7861T>G (p.Ser2621Ala)
c.896-29955T>G
c.2692T>G (p.Ser898Ala)
c.7735T>G (p.Ser2579Ala)
n.1664T>G
c.7864T>G (p.Ser2622Ala)
2g.73489820T=CA1260981177ALMS1c.7480T= (p.Ser2494=)
c.872T=
c.4932T=
c.1927T= (p.Ser643=)
c.7861T= (p.Ser2621=)
c.896-29955T=
c.2692T= (p.Ser898=)
c.7735T= (p.Ser2579=)
n.1664T=
c.7864T= (p.Ser2622=)
2g.73489821C>ACA347266038ALMS1c.7481C>A (p.Ser2494Ter)
c.873C>A
c.4933C>A
c.1928C>A (p.Ser643Ter)
c.7862C>A (p.Ser2621Ter)
c.896-29954C>A
c.2693C>A (p.Ser898Ter)
c.7736C>A (p.Ser2579Ter)
n.1665C>A
c.7865C>A (p.Ser2622Ter)
2g.73489821C=CA1260981178ALMS1c.7481C= (p.Ser2494=)
c.873C=
c.4933C=
c.1928C= (p.Ser643=)
c.7862C= (p.Ser2621=)
c.896-29954C=
c.2693C= (p.Ser898=)
c.7736C= (p.Ser2579=)
n.1665C=
c.7865C= (p.Ser2622=)
2g.73489821C>GCA347266041ALMS1c.7481C>G (p.Ser2494Ter)
c.873C>G
c.4933C>G
c.1928C>G (p.Ser643Ter)
c.7862C>G (p.Ser2621Ter)
c.896-29954C>G
c.2693C>G (p.Ser898Ter)
c.7736C>G (p.Ser2579Ter)
n.1665C>G
c.7865C>G (p.Ser2622Ter)
 dbSNP
2g.73489821C>TCA347266043ALMS1c.7481C>T (p.Ser2494Leu)
c.873C>T
c.4933C>T
c.1928C>T (p.Ser643Leu)
c.7862C>T (p.Ser2621Leu)
c.896-29954C>T
c.2693C>T (p.Ser898Leu)
c.7736C>T (p.Ser2579Leu)
n.1665C>T
c.7865C>T (p.Ser2622Leu)
2g.73489822A=CA1260981179ALMS1c.7482A= (p.Ser2494=)
c.874A=
c.4934A=
c.1929A= (p.Ser643=)
c.7863A= (p.Ser2621=)
c.896-29953A=
c.2694A= (p.Ser898=)
c.7737A= (p.Ser2579=)
n.1666A=
c.7866A= (p.Ser2622=)
2g.73489822A>CCA427000654ALMS1c.7482A>C (p.Ser2494=)
c.874A>C
c.4934A>C
c.1929A>C (p.Ser643=)
c.7863A>C (p.Ser2621=)
c.896-29953A>C
c.2694A>C (p.Ser898=)
c.7737A>C (p.Ser2579=)
n.1666A>C
c.7866A>C (p.Ser2622=)
 dbSNP gnomAD v2 gnomAD v4
2g.73489822A>GCA427000655ALMS1c.7482A>G (p.Ser2494=)
c.874A>G
c.4934A>G
c.1929A>G (p.Ser643=)
c.7863A>G (p.Ser2621=)
c.896-29953A>G
c.2694A>G (p.Ser898=)
c.7737A>G (p.Ser2579=)
n.1666A>G
c.7866A>G (p.Ser2622=)
 ClinVar
2g.73489822A>TCA427000656ALMS1c.7482A>T (p.Ser2494=)
c.874A>T
c.4934A>T
c.1929A>T (p.Ser643=)
c.7863A>T (p.Ser2621=)
c.896-29953A>T
c.2694A>T (p.Ser898=)
c.7737A>T (p.Ser2579=)
n.1666A>T
c.7866A>T (p.Ser2622=)
2g.73489823T>ACA347266048ALMS1c.7483T>A (p.Cys2495Ser)
c.875T>A
c.4935T>A
c.1930T>A (p.Cys644Ser)
c.7864T>A (p.Cys2622Ser)
c.896-29952T>A
c.2695T>A (p.Cys899Ser)
c.7738T>A (p.Cys2580Ser)
n.1667T>A
c.7867T>A (p.Cys2623Ser)
2g.73489823T>CCA347266050ALMS1c.7483T>C (p.Cys2495Arg)
c.875T>C
c.4935T>C
c.1930T>C (p.Cys644Arg)
c.7864T>C (p.Cys2622Arg)
c.896-29952T>C
c.2695T>C (p.Cys899Arg)
c.7738T>C (p.Cys2580Arg)
n.1667T>C
c.7867T>C (p.Cys2623Arg)
 gnomAD v4
2g.73489823T>GCA347266046ALMS1c.7483T>G (p.Cys2495Gly)
c.875T>G
c.4935T>G
c.1930T>G (p.Cys644Gly)
c.7864T>G (p.Cys2622Gly)
c.896-29952T>G
c.2695T>G (p.Cys899Gly)
c.7738T>G (p.Cys2580Gly)
n.1667T>G
c.7867T>G (p.Cys2623Gly)
 dbSNP
2g.73489823T=CA1260981180ALMS1c.7483T= (p.Cys2495=)
c.875T=
c.4935T=
c.1930T= (p.Cys644=)
c.7864T= (p.Cys2622=)
c.896-29952T=
c.2695T= (p.Cys899=)
c.7738T= (p.Cys2580=)
n.1667T=
c.7867T= (p.Cys2623=)
2g.73489823dupCA2573135752ALMS1c.7483dup (p.Cys2495LeufsTer?)
c.875dup
c.4935dup
c.1930dup (p.Cys644LeufsTer?)
c.7864dup (p.Cys2622LeufsTer?)
c.896-29952dup
c.2695dup (p.Cys899LeufsTer?)
c.7738dup (p.Cys2580LeufsTer?)
n.1667dup
c.7867dup (p.Cys2623LeufsTer?)
 ClinVar dbSNP
2g.73489824G>ACA347266053ALMS1c.7484G>A (p.Cys2495Tyr)
c.876G>A
c.4936G>A
c.1931G>A (p.Cys644Tyr)
c.7865G>A (p.Cys2622Tyr)
c.896-29951G>A
c.2696G>A (p.Cys899Tyr)
c.7739G>A (p.Cys2580Tyr)
n.1668G>A
c.7868G>A (p.Cys2623Tyr)
2g.73489824G>CCA347266055ALMS1c.7484G>C (p.Cys2495Ser)
c.876G>C
c.4936G>C
c.1931G>C (p.Cys644Ser)
c.7865G>C (p.Cys2622Ser)
c.896-29951G>C
c.2696G>C (p.Cys899Ser)
c.7739G>C (p.Cys2580Ser)
n.1668G>C
c.7868G>C (p.Cys2623Ser)
2g.73489824G>TCA347266058ALMS1c.7484G>T (p.Cys2495Phe)
c.876G>T
c.4936G>T
c.1931G>T (p.Cys644Phe)
c.7865G>T (p.Cys2622Phe)
c.896-29951G>T
c.2696G>T (p.Cys899Phe)
c.7739G>T (p.Cys2580Phe)
n.1668G>T
c.7868G>T (p.Cys2623Phe)
2g.73489825C>ACA347266060ALMS1c.7485C>A (p.Cys2495Ter)
c.877C>A
c.4937C>A
c.1932C>A (p.Cys644Ter)
c.7866C>A (p.Cys2622Ter)
c.896-29950C>A
c.2697C>A (p.Cys899Ter)
c.7740C>A (p.Cys2580Ter)
n.1669C>A
c.7869C>A (p.Cys2623Ter)
 ClinVar
2g.73489825C=CA1260981181ALMS1c.7485C= (p.Cys2495=)
c.877C=
c.4937C=
c.1932C= (p.Cys644=)
c.7866C= (p.Cys2622=)
c.896-29950C=
c.2697C= (p.Cys899=)
c.7740C= (p.Cys2580=)
n.1669C=
c.7869C= (p.Cys2623=)
2g.73489825C>GCA347266061ALMS1c.7485C>G (p.Cys2495Trp)
c.877C>G
c.4937C>G
c.1932C>G (p.Cys644Trp)
c.7866C>G (p.Cys2622Trp)
c.896-29950C>G
c.2697C>G (p.Cys899Trp)
c.7740C>G (p.Cys2580Trp)
n.1669C>G
c.7869C>G (p.Cys2623Trp)
2g.73489825C>TCA1714360ALMS1c.7485C>T (p.Cys2495=)
c.877C>T
c.4937C>T
c.1932C>T (p.Cys644=)
c.7866C>T (p.Cys2622=)
c.896-29950C>T
c.2697C>T (p.Cys899=)
c.7740C>T (p.Cys2580=)
n.1669C>T
c.7869C>T (p.Cys2623=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489826A>CCA427000657ALMS1c.7486A>C (p.Arg2496=)
c.878A>C
c.4938A>C
c.1933A>C (p.Arg645=)
c.7867A>C (p.Arg2623=)
c.896-29949A>C
c.2698A>C (p.Arg900=)
c.7741A>C (p.Arg2581=)
n.1670A>C
c.7870A>C (p.Arg2624=)
2g.73489826A>GCA347266068ALMS1c.7486A>G (p.Arg2496Gly)
c.878A>G
c.4938A>G
c.1933A>G (p.Arg645Gly)
c.7867A>G (p.Arg2623Gly)
c.896-29949A>G
c.2698A>G (p.Arg900Gly)
c.7741A>G (p.Arg2581Gly)
n.1670A>G
c.7870A>G (p.Arg2624Gly)
2g.73489826A>TCA347266071ALMS1c.7486A>T (p.Arg2496Ter)
c.878A>T
c.4938A>T
c.1933A>T (p.Arg645Ter)
c.7867A>T (p.Arg2623Ter)
c.896-29949A>T
c.2698A>T (p.Arg900Ter)
c.7741A>T (p.Arg2581Ter)
n.1670A>T
c.7870A>T (p.Arg2624Ter)
2g.73489827G>ACA347266075ALMS1c.7487G>A (p.Arg2496Lys)
c.879G>A
c.4939G>A
c.1934G>A (p.Arg645Lys)
c.7868G>A (p.Arg2623Lys)
c.896-29948G>A
c.2699G>A (p.Arg900Lys)
c.7742G>A (p.Arg2581Lys)
n.1671G>A
c.7871G>A (p.Arg2624Lys)
2g.73489827G>CCA347266078ALMS1c.7487G>C (p.Arg2496Thr)
c.879G>C
c.4939G>C
c.1934G>C (p.Arg645Thr)
c.7868G>C (p.Arg2623Thr)
c.896-29948G>C
c.2699G>C (p.Arg900Thr)
c.7742G>C (p.Arg2581Thr)
n.1671G>C
c.7871G>C (p.Arg2624Thr)
 gnomAD v4
2g.73489827G=CA1260981182ALMS1c.7487G= (p.Arg2496=)
c.879G=
c.4939G=
c.1934G= (p.Arg645=)
c.7868G= (p.Arg2623=)
c.896-29948G=
c.2699G= (p.Arg900=)
c.7742G= (p.Arg2581=)
n.1671G=
c.7871G= (p.Arg2624=)
2g.73489827G>TCA50377591ALMS1c.7487G>T (p.Arg2496Ile)
c.879G>T
c.4939G>T
c.1934G>T (p.Arg645Ile)
c.7868G>T (p.Arg2623Ile)
c.896-29948G>T
c.2699G>T (p.Arg900Ile)
c.7742G>T (p.Arg2581Ile)
n.1671G>T
c.7871G>T (p.Arg2624Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.73489828A>CCA347266080ALMS1c.7488A>C (p.Arg2496Ser)
c.880A>C
c.4940A>C
c.1935A>C (p.Arg645Ser)
c.7869A>C (p.Arg2623Ser)
c.896-29947A>C
c.2700A>C (p.Arg900Ser)
c.7743A>C (p.Arg2581Ser)
n.1672A>C
c.7872A>C (p.Arg2624Ser)
2g.73489828A>GCA427000658ALMS1c.7488A>G (p.Arg2496=)
c.880A>G
c.4940A>G
c.1935A>G (p.Arg645=)
c.7869A>G (p.Arg2623=)
c.896-29947A>G
c.2700A>G (p.Arg900=)
c.7743A>G (p.Arg2581=)
n.1672A>G
c.7872A>G (p.Arg2624=)
2g.73489828A>TCA347266082ALMS1c.7488A>T (p.Arg2496Ser)
c.880A>T
c.4940A>T
c.1935A>T (p.Arg645Ser)
c.7869A>T (p.Arg2623Ser)
c.896-29947A>T
c.2700A>T (p.Arg900Ser)
c.7743A>T (p.Arg2581Ser)
n.1672A>T
c.7872A>T (p.Arg2624Ser)
2g.73489829G>ACA1714361ALMS1c.7489G>A (p.Ala2497Thr)
c.881G>A
c.4941G>A
c.1936G>A (p.Ala646Thr)
c.7870G>A (p.Ala2624Thr)
c.896-29946G>A
c.2701G>A (p.Ala901Thr)
c.7744G>A (p.Ala2582Thr)
n.1673G>A
c.7873G>A (p.Ala2625Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73489829G>CCA50377594ALMS1c.7489G>C (p.Ala2497Pro)
c.881G>C
c.4941G>C
c.1936G>C (p.Ala646Pro)
c.7870G>C (p.Ala2624Pro)
c.896-29946G>C
c.2701G>C (p.Ala901Pro)
c.7744G>C (p.Ala2582Pro)
n.1673G>C
c.7873G>C (p.Ala2625Pro)
 ClinVar dbSNP gnomAD v4
2g.73489829G=CA1260981183ALMS1c.7489G= (p.Ala2497=)
c.881G=
c.4941G=
c.1936G= (p.Ala646=)
c.7870G= (p.Ala2624=)
c.896-29946G=
c.2701G= (p.Ala901=)
c.7744G= (p.Ala2582=)
n.1673G=
c.7873G= (p.Ala2625=)
2g.73489829G>TCA347266083ALMS1c.7489G>T (p.Ala2497Ser)
c.881G>T
c.4941G>T
c.1936G>T (p.Ala646Ser)
c.7870G>T (p.Ala2624Ser)
c.896-29946G>T
c.2701G>T (p.Ala901Ser)
c.7744G>T (p.Ala2582Ser)
n.1673G>T
c.7873G>T (p.Ala2625Ser)
2g.73489830C>ACA347266084ALMS1c.7490C>A (p.Ala2497Asp)
c.882C>A
c.4942C>A
c.1937C>A (p.Ala646Asp)
c.7871C>A (p.Ala2624Asp)
c.896-29945C>A
c.2702C>A (p.Ala901Asp)
c.7745C>A (p.Ala2582Asp)
n.1674C>A
c.7874C>A (p.Ala2625Asp)
2g.73489830C>GCA347266095ALMS1c.7490C>G (p.Ala2497Gly)
c.882C>G
c.4942C>G
c.1937C>G (p.Ala646Gly)
c.7871C>G (p.Ala2624Gly)
c.896-29945C>G
c.2702C>G (p.Ala901Gly)
c.7745C>G (p.Ala2582Gly)
n.1674C>G
c.7874C>G (p.Ala2625Gly)
2g.73489830C>TCA347266092ALMS1c.7490C>T (p.Ala2497Val)
c.882C>T
c.4942C>T
c.1937C>T (p.Ala646Val)
c.7871C>T (p.Ala2624Val)
c.896-29945C>T
c.2702C>T (p.Ala901Val)
c.7745C>T (p.Ala2582Val)
n.1674C>T
c.7874C>T (p.Ala2625Val)
2g.73489831C>ACA427000659ALMS1c.7491C>A (p.Ala2497=)
c.883C>A
c.4943C>A
c.1938C>A (p.Ala646=)
c.7872C>A (p.Ala2624=)
c.896-29944C>A
c.2703C>A (p.Ala901=)
c.7746C>A (p.Ala2582=)
n.1675C>A
c.7875C>A (p.Ala2625=)
2g.73489831C=CA1260981184ALMS1c.7491C= (p.Ala2497=)
c.883C=
c.4943C=
c.1938C= (p.Ala646=)
c.7872C= (p.Ala2624=)
c.896-29944C=
c.2703C= (p.Ala901=)
c.7746C= (p.Ala2582=)
n.1675C=
c.7875C= (p.Ala2625=)
2g.73489831C>GCA1714362ALMS1c.7491C>G (p.Ala2497=)
c.883C>G
c.4943C>G
c.1938C>G (p.Ala646=)
c.7872C>G (p.Ala2624=)
c.896-29944C>G
c.2703C>G (p.Ala901=)
c.7746C>G (p.Ala2582=)
n.1675C>G
c.7875C>G (p.Ala2625=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73489831C>TCA427000660ALMS1c.7491C>T (p.Ala2497=)
c.883C>T
c.4943C>T
c.1938C>T (p.Ala646=)
c.7872C>T (p.Ala2624=)
c.896-29944C>T
c.2703C>T (p.Ala901=)
c.7746C>T (p.Ala2582=)
n.1675C>T
c.7875C>T (p.Ala2625=)
2g.73489832A>CCA347266101ALMS1c.7492A>C (p.Lys2498Gln)
c.884A>C
c.4944A>C
c.1939A>C (p.Lys647Gln)
c.7873A>C (p.Lys2625Gln)
c.896-29943A>C
c.2704A>C (p.Lys902Gln)
c.7747A>C (p.Lys2583Gln)
n.1676A>C
c.7876A>C (p.Lys2626Gln)
2g.73489832A>GCA347266102ALMS1c.7492A>G (p.Lys2498Glu)
c.884A>G
c.4944A>G
c.1939A>G (p.Lys647Glu)
c.7873A>G (p.Lys2625Glu)
c.896-29943A>G
c.2704A>G (p.Lys902Glu)
c.7747A>G (p.Lys2583Glu)
n.1676A>G
c.7876A>G (p.Lys2626Glu)
2g.73489832A>TCA347266103ALMS1c.7492A>T (p.Lys2498Ter)
c.884A>T
c.4944A>T
c.1939A>T (p.Lys647Ter)
c.7873A>T (p.Lys2625Ter)
c.896-29943A>T
c.2704A>T (p.Lys902Ter)
c.7747A>T (p.Lys2583Ter)
n.1676A>T
c.7876A>T (p.Lys2626Ter)
2g.73489833A=CA1260981185ALMS1c.7493A= (p.Lys2498=)
c.885A=
c.4945A=
c.1940A= (p.Lys647=)
c.7874A= (p.Lys2625=)
c.896-29942A=
c.2705A= (p.Lys902=)
c.7748A= (p.Lys2583=)
n.1677A=
c.7877A= (p.Lys2626=)
2g.73489833A>CCA347266104ALMS1c.7493A>C (p.Lys2498Thr)
c.885A>C
c.4945A>C
c.1940A>C (p.Lys647Thr)
c.7874A>C (p.Lys2625Thr)
c.896-29942A>C
c.2705A>C (p.Lys902Thr)
c.7748A>C (p.Lys2583Thr)
n.1677A>C
c.7877A>C (p.Lys2626Thr)
2g.73489833A>GCA347266105ALMS1c.7493A>G (p.Lys2498Arg)
c.885A>G
c.4945A>G
c.1940A>G (p.Lys647Arg)
c.7874A>G (p.Lys2625Arg)
c.896-29942A>G
c.2705A>G (p.Lys902Arg)
c.7748A>G (p.Lys2583Arg)
n.1677A>G
c.7877A>G (p.Lys2626Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73489833A>TCA347266106ALMS1c.7493A>T (p.Lys2498Met)
c.885A>T
c.4945A>T
c.1940A>T (p.Lys647Met)
c.7874A>T (p.Lys2625Met)
c.896-29942A>T
c.2705A>T (p.Lys902Met)
c.7748A>T (p.Lys2583Met)
n.1677A>T
c.7877A>T (p.Lys2626Met)
2g.73489834G>ACA427000661ALMS1c.7494G>A (p.Lys2498=)
c.886G>A
c.4946G>A
c.1941G>A (p.Lys647=)
c.7875G>A (p.Lys2625=)
c.896-29941G>A
c.2706G>A (p.Lys902=)
c.7749G>A (p.Lys2583=)
n.1678G>A
c.7878G>A (p.Lys2626=)
2g.73489834G>CCA347266107ALMS1c.7494G>C (p.Lys2498Asn)
c.886G>C
c.4946G>C
c.1941G>C (p.Lys647Asn)
c.7875G>C (p.Lys2625Asn)
c.896-29941G>C
c.2706G>C (p.Lys902Asn)
c.7749G>C (p.Lys2583Asn)
n.1678G>C
c.7878G>C (p.Lys2626Asn)
2g.73489834G>TCA347266108ALMS1c.7494G>T (p.Lys2498Asn)
c.886G>T
c.4946G>T
c.1941G>T (p.Lys647Asn)
c.7875G>T (p.Lys2625Asn)
c.896-29941G>T
c.2706G>T (p.Lys902Asn)
c.7749G>T (p.Lys2583Asn)
n.1678G>T
c.7878G>T (p.Lys2626Asn)

Number of alleles fetched