Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73519711_73519739dupCA2659619898ALMS1c.9159-64_9159-36dup (n.9159-64_9159-36dup)
c.2551-64_2551-36dup
c.6611-64_6611-36dup
c.3606-64_3606-36dup (n.3606-64_3606-36dup)
c.9540-64_9540-36dup (n.9540-64_9540-36dup)
c.896-64_896-36dup
c.637-64_637-36dup
c.3031-64_3031-36dup (n.3031-64_3031-36dup)
c.9414-64_9414-36dup (n.9414-64_9414-36dup)
n.3343-64_3343-36dup
c.9543-64_9543-36dup (n.9543-64_9543-36dup)
 gnomAD v4
2g.73519713G>CCA2577095565ALMS1c.9159-62G>C (n.9159-62G>C)
c.2551-62G>C
c.6611-62G>C
c.3606-62G>C (n.3606-62G>C)
c.9540-62G>C (n.9540-62G>C)
c.896-62G>C
c.637-62G>C
c.3031-62G>C (n.3031-62G>C)
c.9414-62G>C (n.9414-62G>C)
n.3343-62G>C
c.9543-62G>C (n.9543-62G>C)
2g.73519714A=CA1260995938ALMS1c.9159-61A= (n.9159-61A=)
c.2551-61A=
c.6611-61A=
c.3606-61A= (n.3606-61A=)
c.9540-61A= (n.9540-61A=)
c.896-61A=
c.637-61A=
c.3031-61A= (n.3031-61A=)
c.9414-61A= (n.9414-61A=)
n.3343-61A=
c.9543-61A= (n.9543-61A=)
2g.73519714A>CCA1260995939ALMS1c.9159-61A>C (n.9159-61A>C)
c.2551-61A>C
c.6611-61A>C
c.3606-61A>C (n.3606-61A>C)
c.9540-61A>C (n.9540-61A>C)
c.896-61A>C
c.637-61A>C
c.3031-61A>C (n.3031-61A>C)
c.9414-61A>C (n.9414-61A>C)
n.3343-61A>C
c.9543-61A>C (n.9543-61A>C)
 dbSNP
2g.73519716A>CCA2659619899ALMS1c.9159-59A>C (n.9159-59A>C)
c.2551-59A>C
c.6611-59A>C
c.3606-59A>C (n.3606-59A>C)
c.9540-59A>C (n.9540-59A>C)
c.896-59A>C
c.637-59A>C
c.3031-59A>C (n.3031-59A>C)
c.9414-59A>C (n.9414-59A>C)
n.3343-59A>C
c.9543-59A>C (n.9543-59A>C)
 gnomAD v4
2g.73519716A>GCA2659619900ALMS1c.9159-59A>G (n.9159-59A>G)
c.2551-59A>G
c.6611-59A>G
c.3606-59A>G (n.3606-59A>G)
c.9540-59A>G (n.9540-59A>G)
c.896-59A>G
c.637-59A>G
c.3031-59A>G (n.3031-59A>G)
c.9414-59A>G (n.9414-59A>G)
n.3343-59A>G
c.9543-59A>G (n.9543-59A>G)
 gnomAD v4
2g.73519716A>TCA2659619901ALMS1c.9159-59A>T (n.9159-59A>T)
c.2551-59A>T
c.6611-59A>T
c.3606-59A>T (n.3606-59A>T)
c.9540-59A>T (n.9540-59A>T)
c.896-59A>T
c.637-59A>T
c.3031-59A>T (n.3031-59A>T)
c.9414-59A>T (n.9414-59A>T)
n.3343-59A>T
c.9543-59A>T (n.9543-59A>T)
 gnomAD v4
2g.73519717T>ACA50397529ALMS1c.9159-58T>A (n.9159-58T>A)
c.2551-58T>A
c.6611-58T>A
c.3606-58T>A (n.3606-58T>A)
c.9540-58T>A (n.9540-58T>A)
c.896-58T>A
c.637-58T>A
c.3031-58T>A (n.3031-58T>A)
c.9414-58T>A (n.9414-58T>A)
n.3343-58T>A
c.9543-58T>A (n.9543-58T>A)
 dbSNP gnomAD v4
2g.73519717T=CA1260995940ALMS1c.9159-58T= (n.9159-58T=)
c.2551-58T=
c.6611-58T=
c.3606-58T= (n.3606-58T=)
c.9540-58T= (n.9540-58T=)
c.896-58T=
c.637-58T=
c.3031-58T= (n.3031-58T=)
c.9414-58T= (n.9414-58T=)
n.3343-58T=
c.9543-58T= (n.9543-58T=)
2g.73519720C>GCA2577095566ALMS1c.9159-55C>G (n.9159-55C>G)
c.2551-55C>G
c.6611-55C>G
c.3606-55C>G (n.3606-55C>G)
c.9540-55C>G (n.9540-55C>G)
c.896-55C>G
c.637-55C>G
c.3031-55C>G (n.3031-55C>G)
c.9414-55C>G (n.9414-55C>G)
n.3343-55C>G
c.9543-55C>G (n.9543-55C>G)
 gnomAD v4
2g.73519721A=CA1260995941ALMS1c.9159-54A= (n.9159-54A=)
c.2551-54A=
c.6611-54A=
c.3606-54A= (n.3606-54A=)
c.9540-54A= (n.9540-54A=)
c.896-54A=
c.637-54A=
c.3031-54A= (n.3031-54A=)
c.9414-54A= (n.9414-54A=)
n.3343-54A=
c.9543-54A= (n.9543-54A=)
2g.73519721A>GCA50397533ALMS1c.9159-54A>G (n.9159-54A>G)
c.2551-54A>G
c.6611-54A>G
c.3606-54A>G (n.3606-54A>G)
c.9540-54A>G (n.9540-54A>G)
c.896-54A>G
c.637-54A>G
c.3031-54A>G (n.3031-54A>G)
c.9414-54A>G (n.9414-54A>G)
n.3343-54A>G
c.9543-54A>G (n.9543-54A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73519722G>ACA2659619902ALMS1c.9159-53G>A (n.9159-53G>A)
c.2551-53G>A
c.6611-53G>A
c.3606-53G>A (n.3606-53G>A)
c.9540-53G>A (n.9540-53G>A)
c.896-53G>A
c.637-53G>A
c.3031-53G>A (n.3031-53G>A)
c.9414-53G>A (n.9414-53G>A)
n.3343-53G>A
c.9543-53G>A (n.9543-53G>A)
 gnomAD v4
2g.73519723T>CCA1260995943ALMS1c.9159-52T>C (n.9159-52T>C)
c.2551-52T>C
c.6611-52T>C
c.3606-52T>C (n.3606-52T>C)
c.9540-52T>C (n.9540-52T>C)
c.896-52T>C
c.637-52T>C
c.3031-52T>C (n.3031-52T>C)
c.9414-52T>C (n.9414-52T>C)
n.3343-52T>C
c.9543-52T>C (n.9543-52T>C)
 dbSNP gnomAD v4
2g.73519723T=CA1260995942ALMS1c.9159-52T= (n.9159-52T=)
c.2551-52T=
c.6611-52T=
c.3606-52T= (n.3606-52T=)
c.9540-52T= (n.9540-52T=)
c.896-52T=
c.637-52T=
c.3031-52T= (n.3031-52T=)
c.9414-52T= (n.9414-52T=)
n.3343-52T=
c.9543-52T= (n.9543-52T=)
2g.73519724C=CA1260995944ALMS1c.9159-51C= (n.9159-51C=)
c.2551-51C=
c.6611-51C=
c.3606-51C= (n.3606-51C=)
c.9540-51C= (n.9540-51C=)
c.896-51C=
c.637-51C=
c.3031-51C= (n.3031-51C=)
c.9414-51C= (n.9414-51C=)
n.3343-51C=
c.9543-51C= (n.9543-51C=)
2g.73519724C>GCA1260995945ALMS1c.9159-51C>G (n.9159-51C>G)
c.2551-51C>G
c.6611-51C>G
c.3606-51C>G (n.3606-51C>G)
c.9540-51C>G (n.9540-51C>G)
c.896-51C>G
c.637-51C>G
c.3031-51C>G (n.3031-51C>G)
c.9414-51C>G (n.9414-51C>G)
n.3343-51C>G
c.9543-51C>G (n.9543-51C>G)
 dbSNP gnomAD v4
2g.73519725T>CCA2577095567ALMS1c.9159-50T>C (n.9159-50T>C)
c.2551-50T>C
c.6611-50T>C
c.3606-50T>C (n.3606-50T>C)
c.9540-50T>C (n.9540-50T>C)
c.896-50T>C
c.637-50T>C
c.3031-50T>C (n.3031-50T>C)
c.9414-50T>C (n.9414-50T>C)
n.3343-50T>C
c.9543-50T>C (n.9543-50T>C)
2g.73519726C=CA1260995946ALMS1c.9159-49C= (n.9159-49C=)
c.2551-49C=
c.6611-49C=
c.3606-49C= (n.3606-49C=)
c.9540-49C= (n.9540-49C=)
c.896-49C=
c.637-49C=
c.3031-49C= (n.3031-49C=)
c.9414-49C= (n.9414-49C=)
n.3343-49C=
c.9543-49C= (n.9543-49C=)
2g.73519726C>TCA1714686ALMS1c.9159-49C>T (n.9159-49C>T)
c.2551-49C>T
c.6611-49C>T
c.3606-49C>T (n.3606-49C>T)
c.9540-49C>T (n.9540-49C>T)
c.896-49C>T
c.637-49C>T
c.3031-49C>T (n.3031-49C>T)
c.9414-49C>T (n.9414-49C>T)
n.3343-49C>T
c.9543-49C>T (n.9543-49C>T)
 dbSNP ExAC gnomAD v2
2g.73519727T>CCA2538151942ALMS1c.9159-48T>C (n.9159-48T>C)
c.2551-48T>C
c.6611-48T>C
c.3606-48T>C (n.3606-48T>C)
c.9540-48T>C (n.9540-48T>C)
c.896-48T>C
c.637-48T>C
c.3031-48T>C (n.3031-48T>C)
c.9414-48T>C (n.9414-48T>C)
n.3343-48T>C
c.9543-48T>C (n.9543-48T>C)
 gnomAD v4
2g.73519728A=CA1260995947ALMS1c.9159-47A= (n.9159-47A=)
c.2551-47A=
c.6611-47A=
c.3606-47A= (n.3606-47A=)
c.9540-47A= (n.9540-47A=)
c.896-47A=
c.637-47A=
c.3031-47A= (n.3031-47A=)
c.9414-47A= (n.9414-47A=)
n.3343-47A=
c.9543-47A= (n.9543-47A=)
2g.73519728A>GCA1714687ALMS1c.9159-47A>G (n.9159-47A>G)
c.2551-47A>G
c.6611-47A>G
c.3606-47A>G (n.3606-47A>G)
c.9540-47A>G (n.9540-47A>G)
c.896-47A>G
c.637-47A>G
c.3031-47A>G (n.3031-47A>G)
c.9414-47A>G (n.9414-47A>G)
n.3343-47A>G
c.9543-47A>G (n.9543-47A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73519729A=CA1260995948ALMS1c.9159-46A= (n.9159-46A=)
c.2551-46A=
c.6611-46A=
c.3606-46A= (n.3606-46A=)
c.9540-46A= (n.9540-46A=)
c.896-46A=
c.637-46A=
c.3031-46A= (n.3031-46A=)
c.9414-46A= (n.9414-46A=)
n.3343-46A=
c.9543-46A= (n.9543-46A=)
2g.73519729A>CCA2750466401ALMS1c.9159-46A>C (n.9159-46A>C)
c.2551-46A>C
c.6611-46A>C
c.3606-46A>C (n.3606-46A>C)
c.9540-46A>C (n.9540-46A>C)
c.896-46A>C
c.637-46A>C
c.3031-46A>C (n.3031-46A>C)
c.9414-46A>C (n.9414-46A>C)
n.3343-46A>C
c.9543-46A>C (n.9543-46A>C)
2g.73519729A>GCA2659619903ALMS1c.9159-46A>G (n.9159-46A>G)
c.2551-46A>G
c.6611-46A>G
c.3606-46A>G (n.3606-46A>G)
c.9540-46A>G (n.9540-46A>G)
c.896-46A>G
c.637-46A>G
c.3031-46A>G (n.3031-46A>G)
c.9414-46A>G (n.9414-46A>G)
n.3343-46A>G
c.9543-46A>G (n.9543-46A>G)
 gnomAD v4
2g.73519729A>TCA50397541ALMS1c.9159-46A>T (n.9159-46A>T)
c.2551-46A>T
c.6611-46A>T
c.3606-46A>T (n.3606-46A>T)
c.9540-46A>T (n.9540-46A>T)
c.896-46A>T
c.637-46A>T
c.3031-46A>T (n.3031-46A>T)
c.9414-46A>T (n.9414-46A>T)
n.3343-46A>T
c.9543-46A>T (n.9543-46A>T)
 dbSNP
2g.73519730T>ACA892828058ALMS1c.9159-45T>A (n.9159-45T>A)
c.2551-45T>A
c.6611-45T>A
c.3606-45T>A (n.3606-45T>A)
c.9540-45T>A (n.9540-45T>A)
c.896-45T>A
c.637-45T>A
c.3031-45T>A (n.3031-45T>A)
c.9414-45T>A (n.9414-45T>A)
n.3343-45T>A
c.9543-45T>A (n.9543-45T>A)
 dbSNP
2g.73519730T=CA1260995949ALMS1c.9159-45T= (n.9159-45T=)
c.2551-45T=
c.6611-45T=
c.3606-45T= (n.3606-45T=)
c.9540-45T= (n.9540-45T=)
c.896-45T=
c.637-45T=
c.3031-45T= (n.3031-45T=)
c.9414-45T= (n.9414-45T=)
n.3343-45T=
c.9543-45T= (n.9543-45T=)
2g.73519730_73519731insACA1714688ALMS1c.9159-45_9159-44insA (n.9159-45_9159-44insA)
c.2551-45_2551-44insA
c.6611-45_6611-44insA
c.3606-45_3606-44insA (n.3606-45_3606-44insA)
c.9540-45_9540-44insA (n.9540-45_9540-44insA)
c.896-45_896-44insA
c.637-45_637-44insA
c.3031-45_3031-44insA (n.3031-45_3031-44insA)
c.9414-45_9414-44insA (n.9414-45_9414-44insA)
n.3343-45_3343-44insA
c.9543-45_9543-44insA (n.9543-45_9543-44insA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73519732G>ACA2517204538ALMS1c.9159-43G>A (n.9159-43G>A)
c.2551-43G>A
c.6611-43G>A
c.3606-43G>A (n.3606-43G>A)
c.9540-43G>A (n.9540-43G>A)
c.896-43G>A
c.637-43G>A
c.3031-43G>A (n.3031-43G>A)
c.9414-43G>A (n.9414-43G>A)
n.3343-43G>A
c.9543-43G>A (n.9543-43G>A)
 gnomAD v4
2g.73519733C>GCA2659619904ALMS1c.9159-42C>G (n.9159-42C>G)
c.2551-42C>G
c.6611-42C>G
c.3606-42C>G (n.3606-42C>G)
c.9540-42C>G (n.9540-42C>G)
c.896-42C>G
c.637-42C>G
c.3031-42C>G (n.3031-42C>G)
c.9414-42C>G (n.9414-42C>G)
n.3343-42C>G
c.9543-42C>G (n.9543-42C>G)
 gnomAD v4
2g.73519734C>GCA2659619905ALMS1c.9159-41C>G (n.9159-41C>G)
c.2551-41C>G
c.6611-41C>G
c.3606-41C>G (n.3606-41C>G)
c.9540-41C>G (n.9540-41C>G)
c.896-41C>G
c.637-41C>G
c.3031-41C>G (n.3031-41C>G)
c.9414-41C>G (n.9414-41C>G)
n.3343-41C>G
c.9543-41C>G (n.9543-41C>G)
 gnomAD v4
2g.73519735A=CA1260995950ALMS1c.9159-40A= (n.9159-40A=)
c.2551-40A=
c.6611-40A=
c.3606-40A= (n.3606-40A=)
c.9540-40A= (n.9540-40A=)
c.896-40A=
c.637-40A=
c.3031-40A= (n.3031-40A=)
c.9414-40A= (n.9414-40A=)
n.3343-40A=
c.9543-40A= (n.9543-40A=)
2g.73519735A>CCA427015571ALMS1c.9159-40A>C (n.9159-40A>C)
c.2551-40A>C
c.6611-40A>C
c.3606-40A>C (n.3606-40A>C)
c.9540-40A>C (n.9540-40A>C)
c.896-40A>C
c.637-40A>C
c.3031-40A>C (n.3031-40A>C)
c.9414-40A>C (n.9414-40A>C)
n.3343-40A>C
c.9543-40A>C (n.9543-40A>C)
 dbSNP
2g.73519735A>GCA1032211434ALMS1c.9159-40A>G (n.9159-40A>G)
c.2551-40A>G
c.6611-40A>G
c.3606-40A>G (n.3606-40A>G)
c.9540-40A>G (n.9540-40A>G)
c.896-40A>G
c.637-40A>G
c.3031-40A>G (n.3031-40A>G)
c.9414-40A>G (n.9414-40A>G)
n.3343-40A>G
c.9543-40A>G (n.9543-40A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.73519736A=CA1260995951ALMS1c.9159-39A= (n.9159-39A=)
c.2551-39A=
c.6611-39A=
c.3606-39A= (n.3606-39A=)
c.9540-39A= (n.9540-39A=)
c.896-39A=
c.637-39A=
c.3031-39A= (n.3031-39A=)
c.9414-39A= (n.9414-39A=)
n.3343-39A=
c.9543-39A= (n.9543-39A=)
2g.73519736A>GCA1714689ALMS1c.9159-39A>G (n.9159-39A>G)
c.2551-39A>G
c.6611-39A>G
c.3606-39A>G (n.3606-39A>G)
c.9540-39A>G (n.9540-39A>G)
c.896-39A>G
c.637-39A>G
c.3031-39A>G (n.3031-39A>G)
c.9414-39A>G (n.9414-39A>G)
n.3343-39A>G
c.9543-39A>G (n.9543-39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73519737G>TCA2659619906ALMS1c.9159-38G>T (n.9159-38G>T)
c.2551-38G>T
c.6611-38G>T
c.3606-38G>T (n.3606-38G>T)
c.9540-38G>T (n.9540-38G>T)
c.896-38G>T
c.637-38G>T
c.3031-38G>T (n.3031-38G>T)
c.9414-38G>T (n.9414-38G>T)
n.3343-38G>T
c.9543-38G>T (n.9543-38G>T)
 dbSNP gnomAD v4
2g.73519738G>TCA2659619907ALMS1c.9159-37G>T (n.9159-37G>T)
c.2551-37G>T
c.6611-37G>T
c.3606-37G>T (n.3606-37G>T)
c.9540-37G>T (n.9540-37G>T)
c.896-37G>T
c.637-37G>T
c.3031-37G>T (n.3031-37G>T)
c.9414-37G>T (n.9414-37G>T)
n.3343-37G>T
c.9543-37G>T (n.9543-37G>T)
 gnomAD v4
2g.73519739A=CA1260995952ALMS1c.9159-36A= (n.9159-36A=)
c.2551-36A=
c.6611-36A=
c.3606-36A= (n.3606-36A=)
c.9540-36A= (n.9540-36A=)
c.896-36A=
c.637-36A=
c.3031-36A= (n.3031-36A=)
c.9414-36A= (n.9414-36A=)
n.3343-36A=
c.9543-36A= (n.9543-36A=)
2g.73519739A>GCA534125535ALMS1c.9159-36A>G (n.9159-36A>G)
c.2551-36A>G
c.6611-36A>G
c.3606-36A>G (n.3606-36A>G)
c.9540-36A>G (n.9540-36A>G)
c.896-36A>G
c.637-36A>G
c.3031-36A>G (n.3031-36A>G)
c.9414-36A>G (n.9414-36A>G)
n.3343-36A>G
c.9543-36A>G (n.9543-36A>G)
 dbSNP gnomAD v2
2g.73519739A>TCA1714690ALMS1c.9159-36A>T (n.9159-36A>T)
c.2551-36A>T
c.6611-36A>T
c.3606-36A>T (n.3606-36A>T)
c.9540-36A>T (n.9540-36A>T)
c.896-36A>T
c.637-36A>T
c.3031-36A>T (n.3031-36A>T)
c.9414-36A>T (n.9414-36A>T)
n.3343-36A>T
c.9543-36A>T (n.9543-36A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73519740T>CCA534125536ALMS1c.9159-35T>C (n.9159-35T>C)
c.2551-35T>C
c.6611-35T>C
c.3606-35T>C (n.3606-35T>C)
c.9540-35T>C (n.9540-35T>C)
c.896-35T>C
c.637-35T>C
c.3031-35T>C (n.3031-35T>C)
c.9414-35T>C (n.9414-35T>C)
n.3343-35T>C
c.9543-35T>C (n.9543-35T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.73519740T=CA1260995953ALMS1c.9159-35T= (n.9159-35T=)
c.2551-35T=
c.6611-35T=
c.3606-35T= (n.3606-35T=)
c.9540-35T= (n.9540-35T=)
c.896-35T=
c.637-35T=
c.3031-35T= (n.3031-35T=)
c.9414-35T= (n.9414-35T=)
n.3343-35T=
c.9543-35T= (n.9543-35T=)
2g.73519741A=CA1260995954ALMS1c.9159-34A= (n.9159-34A=)
c.2551-34A=
c.6611-34A=
c.3606-34A= (n.3606-34A=)
c.9540-34A= (n.9540-34A=)
c.896-34A=
c.637-34A=
c.3031-34A= (n.3031-34A=)
c.9414-34A= (n.9414-34A=)
n.3343-34A=
c.9543-34A= (n.9543-34A=)
2g.73519741A>GCA534125537ALMS1c.9159-34A>G (n.9159-34A>G)
c.2551-34A>G
c.6611-34A>G
c.3606-34A>G (n.3606-34A>G)
c.9540-34A>G (n.9540-34A>G)
c.896-34A>G
c.637-34A>G
c.3031-34A>G (n.3031-34A>G)
c.9414-34A>G (n.9414-34A>G)
n.3343-34A>G
c.9543-34A>G (n.9543-34A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.73519742T>CCA892828073ALMS1c.9159-33T>C (n.9159-33T>C)
c.2551-33T>C
c.6611-33T>C
c.3606-33T>C (n.3606-33T>C)
c.9540-33T>C (n.9540-33T>C)
c.896-33T>C
c.637-33T>C
c.3031-33T>C (n.3031-33T>C)
c.9414-33T>C (n.9414-33T>C)
n.3343-33T>C
c.9543-33T>C (n.9543-33T>C)
 dbSNP
2g.73519742T=CA1260995955ALMS1c.9159-33T= (n.9159-33T=)
c.2551-33T=
c.6611-33T=
c.3606-33T= (n.3606-33T=)
c.9540-33T= (n.9540-33T=)
c.896-33T=
c.637-33T=
c.3031-33T= (n.3031-33T=)
c.9414-33T= (n.9414-33T=)
n.3343-33T=
c.9543-33T= (n.9543-33T=)
2g.73519744A=CA1260995956ALMS1c.9159-31A= (n.9159-31A=)
c.2551-31A=
c.6611-31A=
c.3606-31A= (n.3606-31A=)
c.9540-31A= (n.9540-31A=)
c.896-31A=
c.637-31A=
c.3031-31A= (n.3031-31A=)
c.9414-31A= (n.9414-31A=)
n.3343-31A=
c.9543-31A= (n.9543-31A=)
2g.73519744A>GCA892828074ALMS1c.9159-31A>G (n.9159-31A>G)
c.2551-31A>G
c.6611-31A>G
c.3606-31A>G (n.3606-31A>G)
c.9540-31A>G (n.9540-31A>G)
c.896-31A>G
c.637-31A>G
c.3031-31A>G (n.3031-31A>G)
c.9414-31A>G (n.9414-31A>G)
n.3343-31A>G
c.9543-31A>G (n.9543-31A>G)
 dbSNP gnomAD v4
2g.73519746C=CA1260995957ALMS1c.9159-29C= (n.9159-29C=)
c.2551-29C=
c.6611-29C=
c.3606-29C= (n.3606-29C=)
c.9540-29C= (n.9540-29C=)
c.896-29C=
c.637-29C=
c.3031-29C= (n.3031-29C=)
c.9414-29C= (n.9414-29C=)
n.3343-29C=
c.9543-29C= (n.9543-29C=)
2g.73519746C>GCA2659619908ALMS1c.9159-29C>G (n.9159-29C>G)
c.2551-29C>G
c.6611-29C>G
c.3606-29C>G (n.3606-29C>G)
c.9540-29C>G (n.9540-29C>G)
c.896-29C>G
c.637-29C>G
c.3031-29C>G (n.3031-29C>G)
c.9414-29C>G (n.9414-29C>G)
n.3343-29C>G
c.9543-29C>G (n.9543-29C>G)
 gnomAD v4
2g.73519746C>TCA1032211439ALMS1c.9159-29C>T (n.9159-29C>T)
c.2551-29C>T
c.6611-29C>T
c.3606-29C>T (n.3606-29C>T)
c.9540-29C>T (n.9540-29C>T)
c.896-29C>T
c.637-29C>T
c.3031-29C>T (n.3031-29C>T)
c.9414-29C>T (n.9414-29C>T)
n.3343-29C>T
c.9543-29C>T (n.9543-29C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.73519747T>CCA2659619909ALMS1c.9159-28T>C (n.9159-28T>C)
c.2551-28T>C
c.6611-28T>C
c.3606-28T>C (n.3606-28T>C)
c.9540-28T>C (n.9540-28T>C)
c.896-28T>C
c.637-28T>C
c.3031-28T>C (n.3031-28T>C)
c.9414-28T>C (n.9414-28T>C)
n.3343-28T>C
c.9543-28T>C (n.9543-28T>C)
 gnomAD v4
2g.73519748G>ACA1032211442ALMS1c.9159-27G>A (n.9159-27G>A)
c.2551-27G>A
c.6611-27G>A
c.3606-27G>A (n.3606-27G>A)
c.9540-27G>A (n.9540-27G>A)
c.896-27G>A
c.637-27G>A
c.3031-27G>A (n.3031-27G>A)
c.9414-27G>A (n.9414-27G>A)
n.3343-27G>A
c.9543-27G>A (n.9543-27G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.73519748G=CA1260995958ALMS1c.9159-27G= (n.9159-27G=)
c.2551-27G=
c.6611-27G=
c.3606-27G= (n.3606-27G=)
c.9540-27G= (n.9540-27G=)
c.896-27G=
c.637-27G=
c.3031-27G= (n.3031-27G=)
c.9414-27G= (n.9414-27G=)
n.3343-27G=
c.9543-27G= (n.9543-27G=)
2g.73519749C>ACA1714691ALMS1c.9159-26C>A (n.9159-26C>A)
c.2551-26C>A
c.6611-26C>A
c.3606-26C>A (n.3606-26C>A)
c.9540-26C>A (n.9540-26C>A)
c.896-26C>A
c.637-26C>A
c.3031-26C>A (n.3031-26C>A)
c.9414-26C>A (n.9414-26C>A)
n.3343-26C>A
c.9543-26C>A (n.9543-26C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73519749C=CA1260995959ALMS1c.9159-26C= (n.9159-26C=)
c.2551-26C=
c.6611-26C=
c.3606-26C= (n.3606-26C=)
c.9540-26C= (n.9540-26C=)
c.896-26C=
c.637-26C=
c.3031-26C= (n.3031-26C=)
c.9414-26C= (n.9414-26C=)
n.3343-26C=
c.9543-26C= (n.9543-26C=)
2g.73519749C>TCA2659619910ALMS1c.9159-26C>T (n.9159-26C>T)
c.2551-26C>T
c.6611-26C>T
c.3606-26C>T (n.3606-26C>T)
c.9540-26C>T (n.9540-26C>T)
c.896-26C>T
c.637-26C>T
c.3031-26C>T (n.3031-26C>T)
c.9414-26C>T (n.9414-26C>T)
n.3343-26C>T
c.9543-26C>T (n.9543-26C>T)
 gnomAD v4
2g.73519750T>ACA2659619911ALMS1c.9159-25T>A (n.9159-25T>A)
c.2551-25T>A
c.6611-25T>A
c.3606-25T>A (n.3606-25T>A)
c.9540-25T>A (n.9540-25T>A)
c.896-25T>A
c.637-25T>A
c.3031-25T>A (n.3031-25T>A)
c.9414-25T>A (n.9414-25T>A)
n.3343-25T>A
c.9543-25T>A (n.9543-25T>A)
 gnomAD v4
2g.73519750T>CCA2577095568ALMS1c.9159-25T>C (n.9159-25T>C)
c.2551-25T>C
c.6611-25T>C
c.3606-25T>C (n.3606-25T>C)
c.9540-25T>C (n.9540-25T>C)
c.896-25T>C
c.637-25T>C
c.3031-25T>C (n.3031-25T>C)
c.9414-25T>C (n.9414-25T>C)
n.3343-25T>C
c.9543-25T>C (n.9543-25T>C)
 gnomAD v4
2g.73519751G>ACA427015722ALMS1c.9159-24G>A (n.9159-24G>A)
c.2551-24G>A
c.6611-24G>A
c.3606-24G>A (n.3606-24G>A)
c.9540-24G>A (n.9540-24G>A)
c.896-24G>A
c.637-24G>A
c.3031-24G>A (n.3031-24G>A)
c.9414-24G>A (n.9414-24G>A)
n.3343-24G>A
c.9543-24G>A (n.9543-24G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73519751G=CA1260995960ALMS1c.9159-24G= (n.9159-24G=)
c.2551-24G=
c.6611-24G=
c.3606-24G= (n.3606-24G=)
c.9540-24G= (n.9540-24G=)
c.896-24G=
c.637-24G=
c.3031-24G= (n.3031-24G=)
c.9414-24G= (n.9414-24G=)
n.3343-24G=
c.9543-24G= (n.9543-24G=)
2g.73519752T>CCA2659619912ALMS1c.9159-23T>C (n.9159-23T>C)
c.2551-23T>C
c.6611-23T>C
c.3606-23T>C (n.3606-23T>C)
c.9540-23T>C (n.9540-23T>C)
c.896-23T>C
c.637-23T>C
c.3031-23T>C (n.3031-23T>C)
c.9414-23T>C (n.9414-23T>C)
n.3343-23T>C
c.9543-23T>C (n.9543-23T>C)
 gnomAD v4
2g.73519752T>GCA50397564ALMS1c.9159-23T>G (n.9159-23T>G)
c.2551-23T>G
c.6611-23T>G
c.3606-23T>G (n.3606-23T>G)
c.9540-23T>G (n.9540-23T>G)
c.896-23T>G
c.637-23T>G
c.3031-23T>G (n.3031-23T>G)
c.9414-23T>G (n.9414-23T>G)
n.3343-23T>G
c.9543-23T>G (n.9543-23T>G)
 dbSNP
2g.73519752T=CA1260995961ALMS1c.9159-23T= (n.9159-23T=)
c.2551-23T=
c.6611-23T=
c.3606-23T= (n.3606-23T=)
c.9540-23T= (n.9540-23T=)
c.896-23T=
c.637-23T=
c.3031-23T= (n.3031-23T=)
c.9414-23T= (n.9414-23T=)
n.3343-23T=
c.9543-23T= (n.9543-23T=)
2g.73519754T>GCA2659619913ALMS1c.9159-21T>G (n.9159-21T>G)
c.2551-21T>G
c.6611-21T>G
c.3606-21T>G (n.3606-21T>G)
c.9540-21T>G (n.9540-21T>G)
c.896-21T>G
c.637-21T>G
c.3031-21T>G (n.3031-21T>G)
c.9414-21T>G (n.9414-21T>G)
n.3343-21T>G
c.9543-21T>G (n.9543-21T>G)
 gnomAD v4
2g.73519756_73519757delCA913090823ALMS1c.9159-19_9159-18del (n.9159-19_9159-18del)
c.2551-19_2551-18del
c.6611-19_6611-18del
c.3606-19_3606-18del (n.3606-19_3606-18del)
c.9540-19_9540-18del (n.9540-19_9540-18del)
c.896-19_896-18del
c.637-19_637-18del
c.3031-19_3031-18del (n.3031-19_3031-18del)
c.9414-19_9414-18del (n.9414-19_9414-18del)
n.3343-19_3343-18del
c.9543-19_9543-18del (n.9543-19_9543-18del)
2g.73519756C>ACA892828083ALMS1c.9159-19C>A (n.9159-19C>A)
c.2551-19C>A
c.6611-19C>A
c.3606-19C>A (n.3606-19C>A)
c.9540-19C>A (n.9540-19C>A)
c.896-19C>A
c.637-19C>A
c.3031-19C>A (n.3031-19C>A)
c.9414-19C>A (n.9414-19C>A)
n.3343-19C>A
c.9543-19C>A (n.9543-19C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.73519756C=CA1260995963ALMS1c.9159-19C= (n.9159-19C=)
c.2551-19C=
c.6611-19C=
c.3606-19C= (n.3606-19C=)
c.9540-19C= (n.9540-19C=)
c.896-19C=
c.637-19C=
c.3031-19C= (n.3031-19C=)
c.9414-19C= (n.9414-19C=)
n.3343-19C=
c.9543-19C= (n.9543-19C=)
2g.73519756C>GCA1032211444ALMS1c.9159-19C>G (n.9159-19C>G)
c.2551-19C>G
c.6611-19C>G
c.3606-19C>G (n.3606-19C>G)
c.9540-19C>G (n.9540-19C>G)
c.896-19C>G
c.637-19C>G
c.3031-19C>G (n.3031-19C>G)
c.9414-19C>G (n.9414-19C>G)
n.3343-19C>G
c.9543-19C>G (n.9543-19C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.73519756C>TCA2659619914ALMS1c.9159-19C>T (n.9159-19C>T)
c.2551-19C>T
c.6611-19C>T
c.3606-19C>T (n.3606-19C>T)
c.9540-19C>T (n.9540-19C>T)
c.896-19C>T
c.637-19C>T
c.3031-19C>T (n.3031-19C>T)
c.9414-19C>T (n.9414-19C>T)
n.3343-19C>T
c.9543-19C>T (n.9543-19C>T)
 gnomAD v4
2g.73519756_73519757delinsCTCA1260995962ALMS1c.9159-19_9159-18delinsCT (n.9159-19_9159-18delinsCT)
c.2551-19_2551-18delinsCT
c.6611-19_6611-18delinsCT
c.3606-19_3606-18delinsCT (n.3606-19_3606-18delinsCT)
c.9540-19_9540-18delinsCT (n.9540-19_9540-18delinsCT)
c.896-19_896-18delinsCT
c.637-19_637-18delinsCT
c.3031-19_3031-18delinsCT (n.3031-19_3031-18delinsCT)
c.9414-19_9414-18delinsCT (n.9414-19_9414-18delinsCT)
n.3343-19_3343-18delinsCT
c.9543-19_9543-18delinsCT (n.9543-19_9543-18delinsCT)
2g.73519757T>ACA2750466402ALMS1c.9159-18T>A (n.9159-18T>A)
c.2551-18T>A
c.6611-18T>A
c.3606-18T>A (n.3606-18T>A)
c.9540-18T>A (n.9540-18T>A)
c.896-18T>A
c.637-18T>A
c.3031-18T>A (n.3031-18T>A)
c.9414-18T>A (n.9414-18T>A)
n.3343-18T>A
c.9543-18T>A (n.9543-18T>A)
2g.73519757T>CCA1260995965ALMS1c.9159-18T>C (n.9159-18T>C)
c.2551-18T>C
c.6611-18T>C
c.3606-18T>C (n.3606-18T>C)
c.9540-18T>C (n.9540-18T>C)
c.896-18T>C
c.637-18T>C
c.3031-18T>C (n.3031-18T>C)
c.9414-18T>C (n.9414-18T>C)
n.3343-18T>C
c.9543-18T>C (n.9543-18T>C)
 dbSNP
2g.73519757T>GCA2697548279ALMS1c.9159-18T>G (n.9159-18T>G)
c.2551-18T>G
c.6611-18T>G
c.3606-18T>G (n.3606-18T>G)
c.9540-18T>G (n.9540-18T>G)
c.896-18T>G
c.637-18T>G
c.3031-18T>G (n.3031-18T>G)
c.9414-18T>G (n.9414-18T>G)
n.3343-18T>G
c.9543-18T>G (n.9543-18T>G)
 ClinVar
2g.73519757T=CA1260995964ALMS1c.9159-18T= (n.9159-18T=)
c.2551-18T=
c.6611-18T=
c.3606-18T= (n.3606-18T=)
c.9540-18T= (n.9540-18T=)
c.896-18T=
c.637-18T=
c.3031-18T= (n.3031-18T=)
c.9414-18T= (n.9414-18T=)
n.3343-18T=
c.9543-18T= (n.9543-18T=)
2g.73519759delCA1714692ALMS1c.9159-16del (n.9159-16del)
c.2551-16del
c.6611-16del
c.3606-16del (n.3606-16del)
c.9540-16del (n.9540-16del)
c.896-16del
c.637-16del
c.3031-16del (n.3031-16del)
c.9414-16del (n.9414-16del)
n.3343-16del
c.9543-16del (n.9543-16del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73519758T>CCA2659619915ALMS1c.9159-17T>C (n.9159-17T>C)
c.2551-17T>C
c.6611-17T>C
c.3606-17T>C (n.3606-17T>C)
c.9540-17T>C (n.9540-17T>C)
c.896-17T>C
c.637-17T>C
c.3031-17T>C (n.3031-17T>C)
c.9414-17T>C (n.9414-17T>C)
n.3343-17T>C
c.9543-17T>C (n.9543-17T>C)
 gnomAD v4
2g.73519759T>CCA1714693ALMS1c.9159-16T>C (n.9159-16T>C)
c.2551-16T>C
c.6611-16T>C
c.3606-16T>C (n.3606-16T>C)
c.9540-16T>C (n.9540-16T>C)
c.896-16T>C
c.637-16T>C
c.3031-16T>C (n.3031-16T>C)
c.9414-16T>C (n.9414-16T>C)
n.3343-16T>C
c.9543-16T>C (n.9543-16T>C)
 dbSNP ExAC gnomAD v2
2g.73519759T=CA1260995966ALMS1c.9159-16T= (n.9159-16T=)
c.2551-16T=
c.6611-16T=
c.3606-16T= (n.3606-16T=)
c.9540-16T= (n.9540-16T=)
c.896-16T=
c.637-16T=
c.3031-16T= (n.3031-16T=)
c.9414-16T= (n.9414-16T=)
n.3343-16T=
c.9543-16T= (n.9543-16T=)
2g.73519762_73519763delCA2580611662ALMS1c.9159-13_9159-12del (n.9159-13_9159-12del)
c.2551-13_2551-12del
c.6611-13_6611-12del
c.3606-13_3606-12del (n.3606-13_3606-12del)
c.9540-13_9540-12del (n.9540-13_9540-12del)
c.896-13_896-12del
c.637-13_637-12del
c.3031-13_3031-12del (n.3031-13_3031-12del)
c.9414-13_9414-12del (n.9414-13_9414-12del)
n.3343-13_3343-12del
c.9543-13_9543-12del (n.9543-13_9543-12del)
 ClinVar dbSNP gnomAD v4
2g.73519760C>ACA1714694ALMS1c.9159-15C>A (n.9159-15C>A)
c.2551-15C>A
c.6611-15C>A
c.3606-15C>A (n.3606-15C>A)
c.9540-15C>A (n.9540-15C>A)
c.896-15C>A
c.637-15C>A
c.3031-15C>A (n.3031-15C>A)
c.9414-15C>A (n.9414-15C>A)
n.3343-15C>A
c.9543-15C>A (n.9543-15C>A)
 ClinVar dbSNP ExAC gnomAD v2
2g.73519760C=CA1260995967ALMS1c.9159-15C= (n.9159-15C=)
c.2551-15C=
c.6611-15C=
c.3606-15C= (n.3606-15C=)
c.9540-15C= (n.9540-15C=)
c.896-15C=
c.637-15C=
c.3031-15C= (n.3031-15C=)
c.9414-15C= (n.9414-15C=)
n.3343-15C=
c.9543-15C= (n.9543-15C=)
2g.73519760C>GCA1714695ALMS1c.9159-15C>G (n.9159-15C>G)
c.2551-15C>G
c.6611-15C>G
c.3606-15C>G (n.3606-15C>G)
c.9540-15C>G (n.9540-15C>G)
c.896-15C>G
c.637-15C>G
c.3031-15C>G (n.3031-15C>G)
c.9414-15C>G (n.9414-15C>G)
n.3343-15C>G
c.9543-15C>G (n.9543-15C>G)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.73519760C>TCA2697548280ALMS1c.9159-15C>T (n.9159-15C>T)
c.2551-15C>T
c.6611-15C>T
c.3606-15C>T (n.3606-15C>T)
c.9540-15C>T (n.9540-15C>T)
c.896-15C>T
c.637-15C>T
c.3031-15C>T (n.3031-15C>T)
c.9414-15C>T (n.9414-15C>T)
n.3343-15C>T
c.9543-15C>T (n.9543-15C>T)
 ClinVar
2g.73519762C=CA1260995968ALMS1c.9159-13C= (n.9159-13C=)
c.2551-13C=
c.6611-13C=
c.3606-13C= (n.3606-13C=)
c.9540-13C= (n.9540-13C=)
c.896-13C=
c.637-13C=
c.3031-13C= (n.3031-13C=)
c.9414-13C= (n.9414-13C=)
n.3343-13C=
c.9543-13C= (n.9543-13C=)
2g.73519762dupCA913090824ALMS1c.9159-13dup (n.9159-13dup)
c.2551-13dup
c.6611-13dup
c.3606-13dup (n.3606-13dup)
c.9540-13dup (n.9540-13dup)
c.896-13dup
c.637-13dup
c.3031-13dup (n.3031-13dup)
c.9414-13dup (n.9414-13dup)
n.3343-13dup
c.9543-13dup (n.9543-13dup)
2g.73519763T>CCA2577095569ALMS1c.9159-12T>C (n.9159-12T>C)
c.2551-12T>C
c.6611-12T>C
c.3606-12T>C (n.3606-12T>C)
c.9540-12T>C (n.9540-12T>C)
c.896-12T>C
c.637-12T>C
c.3031-12T>C (n.3031-12T>C)
c.9414-12T>C (n.9414-12T>C)
n.3343-12T>C
c.9543-12T>C (n.9543-12T>C)
2g.73519768dupCA1714696ALMS1c.9159-7dup (n.9159-7dup)
c.2551-7dup
c.6611-7dup
c.3606-7dup (n.3606-7dup)
c.9540-7dup (n.9540-7dup)
c.896-7dup
c.637-7dup
c.3031-7dup (n.3031-7dup)
c.9414-7dup (n.9414-7dup)
n.3343-7dup
c.9543-7dup (n.9543-7dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73519768delCA2659619916ALMS1c.9159-7del (n.9159-7del)
c.2551-7del
c.6611-7del
c.3606-7del (n.3606-7del)
c.9540-7del (n.9540-7del)
c.896-7del
c.637-7del
c.3031-7del (n.3031-7del)
c.9414-7del (n.9414-7del)
n.3343-7del
c.9543-7del (n.9543-7del)
 gnomAD v4
2g.73519764T>CCA534125604ALMS1c.9159-11T>C (n.9159-11T>C)
c.2551-11T>C
c.6611-11T>C
c.3606-11T>C (n.3606-11T>C)
c.9540-11T>C (n.9540-11T>C)
c.896-11T>C
c.637-11T>C
c.3031-11T>C (n.3031-11T>C)
c.9414-11T>C (n.9414-11T>C)
n.3343-11T>C
c.9543-11T>C (n.9543-11T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73519764T=CA1260995969ALMS1c.9159-11T= (n.9159-11T=)
c.2551-11T=
c.6611-11T=
c.3606-11T= (n.3606-11T=)
c.9540-11T= (n.9540-11T=)
c.896-11T=
c.637-11T=
c.3031-11T= (n.3031-11T=)
c.9414-11T= (n.9414-11T=)
n.3343-11T=
c.9543-11T= (n.9543-11T=)
2g.73519769G>TCA2600435276ALMS1c.9159-6G>T (n.9159-6G>T)
c.2551-6G>T
c.6611-6G>T
c.3606-6G>T (n.3606-6G>T)
c.9540-6G>T (n.9540-6G>T)
c.896-6G>T
c.637-6G>T
c.3031-6G>T (n.3031-6G>T)
c.9414-6G>T (n.9414-6G>T)
n.3343-6G>T
c.9543-6G>T (n.9543-6G>T)
 gnomAD v3 gnomAD v4
2g.73519769_73519775delCA1032211451ALMS1c.9159-6_9159del
c.2551-6_2551del
c.6611-6_6611del
c.3606-6_3606del
c.9540-6_9540del
c.896-6_896del
c.637-6_637del
c.3031-6_3031del
c.9414-6_9414del
n.3343-6_3343del
c.9543-6_9543del
 gnomAD v3 gnomAD v4
2g.73519770G>ACA1714697ALMS1c.9159-5G>A (n.9159-5G>A)
c.2551-5G>A
c.6611-5G>A
c.3606-5G>A (n.3606-5G>A)
c.9540-5G>A (n.9540-5G>A)
c.896-5G>A
c.637-5G>A
c.3031-5G>A (n.3031-5G>A)
c.9414-5G>A (n.9414-5G>A)
n.3343-5G>A
c.9543-5G>A (n.9543-5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73519770G=CA1260995970ALMS1c.9159-5G= (n.9159-5G=)
c.2551-5G=
c.6611-5G=
c.3606-5G= (n.3606-5G=)
c.9540-5G= (n.9540-5G=)
c.896-5G=
c.637-5G=
c.3031-5G= (n.3031-5G=)
c.9414-5G= (n.9414-5G=)
n.3343-5G=
c.9543-5G= (n.9543-5G=)
2g.73519770G>TCA2600435277ALMS1c.9159-5G>T (n.9159-5G>T)
c.2551-5G>T
c.6611-5G>T
c.3606-5G>T (n.3606-5G>T)
c.9540-5G>T (n.9540-5G>T)
c.896-5G>T
c.637-5G>T
c.3031-5G>T (n.3031-5G>T)
c.9414-5G>T (n.9414-5G>T)
n.3343-5G>T
c.9543-5G>T (n.9543-5G>T)
 gnomAD v3 gnomAD v4
2g.73519771T>ACA2659619917ALMS1c.9159-4T>A (n.9159-4T>A)
c.2551-4T>A
c.6611-4T>A
c.3606-4T>A (n.3606-4T>A)
c.9540-4T>A (n.9540-4T>A)
c.896-4T>A
c.637-4T>A
c.3031-4T>A (n.3031-4T>A)
c.9414-4T>A (n.9414-4T>A)
n.3343-4T>A
c.9543-4T>A (n.9543-4T>A)
 gnomAD v4
2g.73519772_73519774delinsCAGCA1260995971ALMS1c.9159-3_9159-1delinsCAG (n.9159-3_9159-1delinsCAG)
c.2551-3_2551-1delinsCAG
c.6611-3_6611-1delinsCAG
c.3606-3_3606-1delinsCAG (n.3606-3_3606-1delinsCAG)
c.9540-3_9540-1delinsCAG (n.9540-3_9540-1delinsCAG)
c.896-3_896-1delinsCAG
c.637-3_637-1delinsCAG
c.3031-3_3031-1delinsCAG (n.3031-3_3031-1delinsCAG)
c.9414-3_9414-1delinsCAG (n.9414-3_9414-1delinsCAG)
n.3343-3_3343-1delinsCAG
c.9543-3_9543-1delinsCAG (n.9543-3_9543-1delinsCAG)
2g.73519773A>CCA347280667ALMS1c.9159-2A>C (n.9159-2A>C)
c.2551-2A>C
c.6611-2A>C
c.3606-2A>C (n.3606-2A>C)
c.9540-2A>C (n.9540-2A>C)
c.896-2A>C
c.637-2A>C
c.3031-2A>C (n.3031-2A>C)
c.9414-2A>C (n.9414-2A>C)
n.3343-2A>C
c.9543-2A>C (n.9543-2A>C)
2g.73519773A>GCA347280666ALMS1c.9159-2A>G (n.9159-2A>G)
c.2551-2A>G
c.6611-2A>G
c.3606-2A>G (n.3606-2A>G)
c.9540-2A>G (n.9540-2A>G)
c.896-2A>G
c.637-2A>G
c.3031-2A>G (n.3031-2A>G)
c.9414-2A>G (n.9414-2A>G)
n.3343-2A>G
c.9543-2A>G (n.9543-2A>G)
 ClinVar gnomAD v4
2g.73519773A>TCA347280668ALMS1c.9159-2A>T (n.9159-2A>T)
c.2551-2A>T
c.6611-2A>T
c.3606-2A>T (n.3606-2A>T)
c.9540-2A>T (n.9540-2A>T)
c.896-2A>T
c.637-2A>T
c.3031-2A>T (n.3031-2A>T)
c.9414-2A>T (n.9414-2A>T)
n.3343-2A>T
c.9543-2A>T (n.9543-2A>T)
2g.73519774_73519775delCA1260995972ALMS1c.9159-1_9159del
c.2551-1_2551del
c.6611-1_6611del
c.3606-1_3606del
c.9540-1_9540del
c.896-1_896del
c.637-1_637del
c.3031-1_3031del
c.9414-1_9414del
n.3343-1_3343del
c.9543-1_9543del
 dbSNP gnomAD v4
2g.73519774G>ACA347280669ALMS1c.9159-1G>A (n.9159-1G>A)
c.2551-1G>A
c.6611-1G>A
c.3606-1G>A (n.3606-1G>A)
c.9540-1G>A (n.9540-1G>A)
c.896-1G>A
c.637-1G>A
c.3031-1G>A (n.3031-1G>A)
c.9414-1G>A (n.9414-1G>A)
n.3343-1G>A
c.9543-1G>A (n.9543-1G>A)
2g.73519774G>CCA347280671ALMS1c.9159-1G>C (n.9159-1G>C)
c.2551-1G>C
c.6611-1G>C
c.3606-1G>C (n.3606-1G>C)
c.9540-1G>C (n.9540-1G>C)
c.896-1G>C
c.637-1G>C
c.3031-1G>C (n.3031-1G>C)
c.9414-1G>C (n.9414-1G>C)
n.3343-1G>C
c.9543-1G>C (n.9543-1G>C)
2g.73519774G>TCA347280670ALMS1c.9159-1G>T (n.9159-1G>T)
c.2551-1G>T
c.6611-1G>T
c.3606-1G>T (n.3606-1G>T)
c.9540-1G>T (n.9540-1G>T)
c.896-1G>T
c.637-1G>T
c.3031-1G>T (n.3031-1G>T)
c.9414-1G>T (n.9414-1G>T)
n.3343-1G>T
c.9543-1G>T (n.9543-1G>T)
 gnomAD v3 gnomAD v4
2g.73519775delCA2659619918ALMS1c.9159del (p.Leu3054TyrfsTer5)
c.2551del
c.6611del
c.3606del (p.Leu1203TyrfsTer5)
c.9540del (p.Leu3181TyrfsTer5)
c.896del
c.637del
c.3031del (p.Ile1011LeufsTer?)
c.9414del (p.Leu3139TyrfsTer5)
n.3343del
c.9543del (p.Leu3182TyrfsTer5)
 gnomAD v4
2g.73519775A=CA1260995973ALMS1c.9159A= (p.Arg3053=)
c.2551A=
c.6611A=
c.3606A= (p.Arg1202=)
c.9540A= (p.Arg3180=)
c.896A=
c.637A=
c.3031A= (p.Ile1011=)
c.9414A= (p.Arg3138=)
n.3343A=
c.9543A= (p.Arg3181=)
2g.73519775A>CCA427015732ALMS1c.9159A>C (p.Arg3053=)
c.2551A>C
c.6611A>C
c.3606A>C (p.Arg1202=)
c.9540A>C (p.Arg3180=)
c.896A>C
c.637A>C
c.3031A>C (p.Ile1011Leu)
c.9414A>C (p.Arg3138=)
n.3343A>C
c.9543A>C (p.Arg3181=)
2g.73519775A>GCA427015731ALMS1c.9159A>G (p.Arg3053=)
c.2551A>G
c.6611A>G
c.3606A>G (p.Arg1202=)
c.9540A>G (p.Arg3180=)
c.896A>G
c.637A>G
c.3031A>G (p.Ile1011Val)
c.9414A>G (p.Arg3138=)
n.3343A>G
c.9543A>G (p.Arg3181=)
2g.73519775A>TCA427015729ALMS1c.9159A>T (p.Arg3053=)
c.2551A>T
c.6611A>T
c.3606A>T (p.Arg1202=)
c.9540A>T (p.Arg3180=)
c.896A>T
c.637A>T
c.3031A>T (p.Ile1011Phe)
c.9414A>T (p.Arg3138=)
n.3343A>T
c.9543A>T (p.Arg3181=)
 dbSNP gnomAD v4
2g.73519776T>ACA347280673ALMS1c.9160T>A (p.Leu3054Ile)
c.2552T>A
c.6612T>A
c.3607T>A (p.Leu1203Ile)
c.9541T>A (p.Leu3181Ile)
c.897T>A
c.638T>A
c.3032T>A (p.Ile1011Asn)
c.9415T>A (p.Leu3139Ile)
n.3344T>A
c.9544T>A (p.Leu3182Ile)
2g.73519776T>CCA427015733ALMS1c.9160T>C (p.Leu3054=)
c.2552T>C
c.6612T>C
c.3607T>C (p.Leu1203=)
c.9541T>C (p.Leu3181=)
c.897T>C
c.638T>C
c.3032T>C (p.Ile1011Thr)
c.9415T>C (p.Leu3139=)
n.3344T>C
c.9544T>C (p.Leu3182=)
2g.73519776T>GCA347280676ALMS1c.9160T>G (p.Leu3054Val)
c.2552T>G
c.6612T>G
c.3607T>G (p.Leu1203Val)
c.9541T>G (p.Leu3181Val)
c.897T>G
c.638T>G
c.3032T>G (p.Ile1011Ser)
c.9415T>G (p.Leu3139Val)
n.3344T>G
c.9544T>G (p.Leu3182Val)
2g.73519777_73519778insTTTTTTTCA1032211458ALMS1c.9161_9162insTTTTTTT (p.Leu3054PhefsTer16)
c.2553_2554insTTTTTTT
c.6613_6614insTTTTTTT
c.3608_3609insTTTTTTT (p.Leu1203PhefsTer16)
c.9542_9543insTTTTTTT (p.Leu3181PhefsTer16)
c.898_899insTTTTTTT
c.639_640insTTTTTTT
c.3033_3034insTTTTTTT (p.Thr1012PhefsTer7)
c.9416_9417insTTTTTTT (p.Leu3139PhefsTer16)
n.3345_3346insTTTTTTT
c.9545_9546insTTTTTTT (p.Leu3182PhefsTer16)
 gnomAD v3 gnomAD v4
2g.73519777_73519778insTTTTTTTTCA2750466409ALMS1c.9161_9162insTTTTTTTT (p.Leu3054PhefsTer8)
c.2553_2554insTTTTTTTT
c.6613_6614insTTTTTTTT
c.3608_3609insTTTTTTTT (p.Leu1203PhefsTer8)
c.9542_9543insTTTTTTTT (p.Leu3181PhefsTer8)
c.898_899insTTTTTTTT
c.639_640insTTTTTTTT
c.3033_3034insTTTTTTTT (p.Thr1012PhefsTer?)
c.9416_9417insTTTTTTTT (p.Leu3139PhefsTer8)
n.3345_3346insTTTTTTTT
c.9545_9546insTTTTTTTT (p.Leu3182PhefsTer8)
2g.73519777T>ACA347280678ALMS1c.9161T>A (p.Leu3054Ter)
c.2553T>A
c.6613T>A
c.3608T>A (p.Leu1203Ter)
c.9542T>A (p.Leu3181Ter)
c.898T>A
c.639T>A
c.3033T>A (p.Ile1011=)
c.9416T>A (p.Leu3139Ter)
n.3345T>A
c.9545T>A (p.Leu3182Ter)
2g.73519777T>CCA347280680ALMS1c.9161T>C (p.Leu3054Ser)
c.2553T>C
c.6613T>C
c.3608T>C (p.Leu1203Ser)
c.9542T>C (p.Leu3181Ser)
c.898T>C
c.639T>C
c.3033T>C (p.Ile1011=)
c.9416T>C (p.Leu3139Ser)
n.3345T>C
c.9545T>C (p.Leu3182Ser)
2g.73519777T>GCA347280682ALMS1c.9161T>G (p.Leu3054Ter)
c.2553T>G
c.6613T>G
c.3608T>G (p.Leu1203Ter)
c.9542T>G (p.Leu3181Ter)
c.898T>G
c.639T>G
c.3033T>G (p.Ile1011Met)
c.9416T>G (p.Leu3139Ter)
n.3345T>G
c.9545T>G (p.Leu3182Ter)
2g.73519778A>CCA347280685ALMS1c.9162A>C (p.Leu3054Phe)
c.2554A>C
c.6614A>C
c.3609A>C (p.Leu1203Phe)
c.9543A>C (p.Leu3181Phe)
c.899A>C
c.640A>C
c.3034A>C (p.Thr1012Pro)
c.9417A>C (p.Leu3139Phe)
n.3346A>C
c.9546A>C (p.Leu3182Phe)
2g.73519778A>GCA427015734ALMS1c.9162A>G (p.Leu3054=)
c.2554A>G
c.6614A>G
c.3609A>G (p.Leu1203=)
c.9543A>G (p.Leu3181=)
c.899A>G
c.640A>G
c.3034A>G (p.Thr1012Ala)
c.9417A>G (p.Leu3139=)
n.3346A>G
c.9546A>G (p.Leu3182=)
2g.73519778A>TCA347280686ALMS1c.9162A>T (p.Leu3054Phe)
c.2554A>T
c.6614A>T
c.3609A>T (p.Leu1203Phe)
c.9543A>T (p.Leu3181Phe)
c.899A>T
c.640A>T
c.3034A>T (p.Thr1012Ser)
c.9417A>T (p.Leu3139Phe)
n.3346A>T
c.9546A>T (p.Leu3182Phe)
 gnomAD v4
2g.73519778_73519779delCA2659619919ALMS1c.9162_9163del (p.Leu3054PhefsTer13)
c.2554_2555del
c.6614_6615del
c.3609_3610del (p.Leu1203PhefsTer13)
c.9543_9544del (p.Leu3181PhefsTer13)
c.899_900del
c.640_641del
c.3034_3035del (p.Thr1012GlnfsTer4)
c.9417_9418del (p.Leu3139PhefsTer13)
n.3346_3347del
c.9546_9547del (p.Leu3182PhefsTer13)
 gnomAD v4
2g.73519779C>ACA50397606ALMS1c.9163C>A (p.Pro3055Thr)
c.2555C>A
c.6615C>A
c.3610C>A (p.Pro1204Thr)
c.9544C>A (p.Pro3182Thr)
c.900C>A
c.641C>A
c.3035C>A (p.Thr1012Asn)
c.9418C>A (p.Pro3140Thr)
n.3347C>A
c.9547C>A (p.Pro3183Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73519779C=CA1260995974ALMS1c.9163C= (p.Pro3055=)
c.2555C=
c.6615C=
c.3610C= (p.Pro1204=)
c.9544C= (p.Pro3182=)
c.900C=
c.641C=
c.3035C= (p.Thr1012=)
c.9418C= (p.Pro3140=)
n.3347C=
c.9547C= (p.Pro3183=)
2g.73519779C>GCA347280690ALMS1c.9163C>G (p.Pro3055Ala)
c.2555C>G
c.6615C>G
c.3610C>G (p.Pro1204Ala)
c.9544C>G (p.Pro3182Ala)
c.900C>G
c.641C>G
c.3035C>G (p.Thr1012Ser)
c.9418C>G (p.Pro3140Ala)
n.3347C>G
c.9547C>G (p.Pro3183Ala)
2g.73519779C>TCA347280693ALMS1c.9163C>T (p.Pro3055Ser)
c.2555C>T
c.6615C>T
c.3610C>T (p.Pro1204Ser)
c.9544C>T (p.Pro3182Ser)
c.900C>T
c.641C>T
c.3035C>T (p.Thr1012Ile)
c.9418C>T (p.Pro3140Ser)
n.3347C>T
c.9547C>T (p.Pro3183Ser)
2g.73519780C>ACA347280702ALMS1c.9164C>A (p.Pro3055Gln)
c.2556C>A
c.6616C>A
c.3611C>A (p.Pro1204Gln)
c.9545C>A (p.Pro3182Gln)
c.901C>A
c.642C>A
c.3036C>A (p.Thr1012=)
c.9419C>A (p.Pro3140Gln)
n.3348C>A
c.9548C>A (p.Pro3183Gln)
2g.73519780C=CA1260995975ALMS1c.9164C= (p.Pro3055=)
c.2556C=
c.6616C=
c.3611C= (p.Pro1204=)
c.9545C= (p.Pro3182=)
c.901C=
c.642C=
c.3036C= (p.Thr1012=)
c.9419C= (p.Pro3140=)
n.3348C=
c.9548C= (p.Pro3183=)
2g.73519780C>GCA347280705ALMS1c.9164C>G (p.Pro3055Arg)
c.2556C>G
c.6616C>G
c.3611C>G (p.Pro1204Arg)
c.9545C>G (p.Pro3182Arg)
c.901C>G
c.642C>G
c.3036C>G (p.Thr1012=)
c.9419C>G (p.Pro3140Arg)
n.3348C>G
c.9548C>G (p.Pro3183Arg)
2g.73519780C>TCA347280707ALMS1c.9164C>T (p.Pro3055Leu)
c.2556C>T
c.6616C>T
c.3611C>T (p.Pro1204Leu)
c.9545C>T (p.Pro3182Leu)
c.901C>T
c.642C>T
c.3036C>T (p.Thr1012=)
c.9419C>T (p.Pro3140Leu)
n.3348C>T
c.9548C>T (p.Pro3183Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73519781delCA2573135793ALMS1c.9165del (p.Glu3056ArgfsTer3)
c.2557del
c.6617del
c.3612del (p.Glu1205ArgfsTer3)
c.9546del (p.Glu3183ArgfsTer3)
c.902del
c.643del
c.3037del (p.Arg1013GlufsTer?)
c.9420del (p.Glu3141ArgfsTer3)
n.3349del
c.9549del (p.Glu3184ArgfsTer3)
 ClinVar dbSNP
2g.73519781A>CCA427015738ALMS1c.9165A>C (p.Pro3055=)
c.2557A>C
c.6617A>C
c.3612A>C (p.Pro1204=)
c.9546A>C (p.Pro3182=)
c.902A>C
c.643A>C
c.3037A>C (p.Arg1013=)
c.9420A>C (p.Pro3140=)
n.3349A>C
c.9549A>C (p.Pro3183=)
2g.73519781A>GCA427015740ALMS1c.9165A>G (p.Pro3055=)
c.2557A>G
c.6617A>G
c.3612A>G (p.Pro1204=)
c.9546A>G (p.Pro3182=)
c.902A>G
c.643A>G
c.3037A>G (p.Arg1013Gly)
c.9420A>G (p.Pro3140=)
n.3349A>G
c.9549A>G (p.Pro3183=)
 ClinVar dbSNP gnomAD v4
2g.73519781A>TCA427015739ALMS1c.9165A>T (p.Pro3055=)
c.2557A>T
c.6617A>T
c.3612A>T (p.Pro1204=)
c.9546A>T (p.Pro3182=)
c.902A>T
c.643A>T
c.3037A>T (p.Arg1013Ter)
c.9420A>T (p.Pro3140=)
n.3349A>T
c.9549A>T (p.Pro3183=)
2g.73519781_73519784delinsAGAGCA1260995976ALMS1c.9165_9168delinsAGAG (p.Pro3055=)
c.2557_2560delinsAGAG
c.6617_6620delinsAGAG
c.3612_3615delinsAGAG (p.Pro1204=)
c.9546_9549delinsAGAG (p.Pro3182=)
c.902_905delinsAGAG
c.643_646delinsAGAG
c.3037_3040delinsAGAG (p.Arg1013=)
c.9420_9423delinsAGAG (p.Pro3140=)
n.3349_3352delinsAGAG
c.9549_9552delinsAGAG (p.Pro3183=)
2g.73519782_73519785delCA913090825ALMS1c.9166_9169del (p.Glu3056ArgfsTer2)
c.2558_2561del
c.6618_6621del
c.3613_3616del (p.Glu1205ArgfsTer2)
c.9547_9550del (p.Glu3183ArgfsTer2)
c.903_906del
c.644_647del
c.3038_3041del (p.Arg1013LysfsTer?)
c.9421_9424del (p.Glu3141ArgfsTer2)
n.3350_3353del
c.9550_9553del (p.Glu3184ArgfsTer2)
2g.73519782G>ACA347280708ALMS1c.9166G>A (p.Glu3056Lys)
c.2558G>A
c.6618G>A
c.3613G>A (p.Glu1205Lys)
c.9547G>A (p.Glu3183Lys)
c.903G>A
c.644G>A
c.3038G>A (p.Arg1013Lys)
c.9421G>A (p.Glu3141Lys)
n.3350G>A
c.9550G>A (p.Glu3184Lys)
2g.73519782G>CCA347280710ALMS1c.9166G>C (p.Glu3056Gln)
c.2558G>C
c.6618G>C
c.3613G>C (p.Glu1205Gln)
c.9547G>C (p.Glu3183Gln)
c.903G>C
c.644G>C
c.3038G>C (p.Arg1013Thr)
c.9421G>C (p.Glu3141Gln)
n.3350G>C
c.9550G>C (p.Glu3184Gln)
2g.73519782G>TCA347280709ALMS1c.9166G>T (p.Glu3056Ter)
c.2558G>T
c.6618G>T
c.3613G>T (p.Glu1205Ter)
c.9547G>T (p.Glu3183Ter)
c.903G>T
c.644G>T
c.3038G>T (p.Arg1013Ile)
c.9421G>T (p.Glu3141Ter)
n.3350G>T
c.9550G>T (p.Glu3184Ter)
2g.73519782_73519784delCA658821442ALMS1c.9166_9168del (p.Glu3056del)
c.2558_2560del
c.6618_6620del
c.3613_3615del (p.Glu1205del)
c.9547_9549del (p.Glu3183del)
c.903_905del
c.644_646del
c.3038_3040del (p.Arg1013_Glu1014delinsLys)
c.9421_9423del (p.Glu3141del)
n.3350_3352del
c.9550_9552del (p.Glu3184del)
 ClinVar dbSNP
2g.73519783A>CCA347280711ALMS1c.9167A>C (p.Glu3056Ala)
c.2559A>C
c.6619A>C
c.3614A>C (p.Glu1205Ala)
c.9548A>C (p.Glu3183Ala)
c.904A>C
c.645A>C
c.3039A>C (p.Arg1013Ser)
c.9422A>C (p.Glu3141Ala)
n.3351A>C
c.9551A>C (p.Glu3184Ala)
2g.73519783A>GCA347280712ALMS1c.9167A>G (p.Glu3056Gly)
c.2559A>G
c.6619A>G
c.3614A>G (p.Glu1205Gly)
c.9548A>G (p.Glu3183Gly)
c.904A>G
c.645A>G
c.3039A>G (p.Arg1013=)
c.9422A>G (p.Glu3141Gly)
n.3351A>G
c.9551A>G (p.Glu3184Gly)
2g.73519783A>TCA347280713ALMS1c.9167A>T (p.Glu3056Val)
c.2559A>T
c.6619A>T
c.3614A>T (p.Glu1205Val)
c.9548A>T (p.Glu3183Val)
c.904A>T
c.645A>T
c.3039A>T (p.Arg1013Ser)
c.9422A>T (p.Glu3141Val)
n.3351A>T
c.9551A>T (p.Glu3184Val)
2g.73519784delCA2697548281ALMS1c.9168del (p.Lys3057ArgfsTer2)
c.2560del
c.6620del
c.3615del (p.Lys1206ArgfsTer2)
c.9549del (p.Lys3184ArgfsTer2)
c.905del
c.646del
c.3040del (p.Glu1014LysfsTer?)
c.9423del (p.Lys3142ArgfsTer2)
n.3352del
c.9552del (p.Lys3185ArgfsTer2)
 ClinVar
2g.73519784G>ACA427015741ALMS1c.9168G>A (p.Glu3056=)
c.2560G>A
c.6620G>A
c.3615G>A (p.Glu1205=)
c.9549G>A (p.Glu3183=)
c.905G>A
c.646G>A
c.3040G>A (p.Glu1014Lys)
c.9423G>A (p.Glu3141=)
n.3352G>A
c.9552G>A (p.Glu3184=)
 ClinVar
2g.73519784G>CCA347280714ALMS1c.9168G>C (p.Glu3056Asp)
c.2560G>C
c.6620G>C
c.3615G>C (p.Glu1205Asp)
c.9549G>C (p.Glu3183Asp)
c.905G>C
c.646G>C
c.3040G>C (p.Glu1014Gln)
c.9423G>C (p.Glu3141Asp)
n.3352G>C
c.9552G>C (p.Glu3184Asp)
2g.73519784G>TCA347280715ALMS1c.9168G>T (p.Glu3056Asp)
c.2560G>T
c.6620G>T
c.3615G>T (p.Glu1205Asp)
c.9549G>T (p.Glu3183Asp)
c.905G>T
c.646G>T
c.3040G>T (p.Glu1014Ter)
c.9423G>T (p.Glu3141Asp)
n.3352G>T
c.9552G>T (p.Glu3184Asp)
2g.73519785A>CCA347280718ALMS1c.9169A>C (p.Lys3057Gln)
c.2561A>C
c.6621A>C
c.3616A>C (p.Lys1206Gln)
c.9550A>C (p.Lys3184Gln)
c.906A>C
c.647A>C
c.3041A>C (p.Glu1014Ala)
c.9424A>C (p.Lys3142Gln)
n.3353A>C
c.9553A>C (p.Lys3185Gln)
2g.73519785A>GCA347280733ALMS1c.9169A>G (p.Lys3057Glu)
c.2561A>G
c.6621A>G
c.3616A>G (p.Lys1206Glu)
c.9550A>G (p.Lys3184Glu)
c.906A>G
c.647A>G
c.3041A>G (p.Glu1014Gly)
c.9424A>G (p.Lys3142Glu)
n.3353A>G
c.9553A>G (p.Lys3185Glu)
2g.73519785A>TCA347280734ALMS1c.9169A>T (p.Lys3057Ter)
c.2561A>T
c.6621A>T
c.3616A>T (p.Lys1206Ter)
c.9550A>T (p.Lys3184Ter)
c.906A>T
c.647A>T
c.3041A>T (p.Glu1014Val)
c.9424A>T (p.Lys3142Ter)
n.3353A>T
c.9553A>T (p.Lys3185Ter)
2g.73519786A=CA1260995977ALMS1c.9170A= (p.Lys3057=)
c.2562A=
c.6622A=
c.3617A= (p.Lys1206=)
c.9551A= (p.Lys3184=)
c.907A=
c.648A=
c.3042A= (p.Glu1014=)
c.9425A= (p.Lys3142=)
n.3354A=
c.9554A= (p.Lys3185=)
2g.73519786A>CCA347280736ALMS1c.9170A>C (p.Lys3057Thr)
c.2562A>C
c.6622A>C
c.3617A>C (p.Lys1206Thr)
c.9551A>C (p.Lys3184Thr)
c.907A>C
c.648A>C
c.3042A>C (p.Glu1014Asp)
c.9425A>C (p.Lys3142Thr)
n.3354A>C
c.9554A>C (p.Lys3185Thr)
 gnomAD v4
2g.73519786A>GCA347280738ALMS1c.9170A>G (p.Lys3057Arg)
c.2562A>G
c.6622A>G
c.3617A>G (p.Lys1206Arg)
c.9551A>G (p.Lys3184Arg)
c.907A>G
c.648A>G
c.3042A>G (p.Glu1014=)
c.9425A>G (p.Lys3142Arg)
n.3354A>G
c.9554A>G (p.Lys3185Arg)
2g.73519786A>TCA347280740ALMS1c.9170A>T (p.Lys3057Met)
c.2562A>T
c.6622A>T
c.3617A>T (p.Lys1206Met)
c.9551A>T (p.Lys3184Met)
c.907A>T
c.648A>T
c.3042A>T (p.Glu1014Asp)
c.9425A>T (p.Lys3142Met)
n.3354A>T
c.9554A>T (p.Lys3185Met)
 dbSNP gnomAD v2 gnomAD v4
2g.73519787G>ACA427015745ALMS1c.9171G>A (p.Lys3057=)
c.2563G>A
c.6623G>A
c.3618G>A (p.Lys1206=)
c.9552G>A (p.Lys3184=)
c.908G>A
c.649G>A
c.3043G>A (p.Asp1015Asn)
c.9426G>A (p.Lys3142=)
n.3355G>A
c.9555G>A (p.Lys3185=)
 dbSNP gnomAD v3 gnomAD v4
2g.73519787G>CCA347280742ALMS1c.9171G>C (p.Lys3057Asn)
c.2563G>C
c.6623G>C
c.3618G>C (p.Lys1206Asn)
c.9552G>C (p.Lys3184Asn)
c.908G>C
c.649G>C
c.3043G>C (p.Asp1015His)
c.9426G>C (p.Lys3142Asn)
n.3355G>C
c.9555G>C (p.Lys3185Asn)
2g.73519787G=CA1260995978ALMS1c.9171G= (p.Lys3057=)
c.2563G=
c.6623G=
c.3618G= (p.Lys1206=)
c.9552G= (p.Lys3184=)
c.908G=
c.649G=
c.3043G= (p.Asp1015=)
c.9426G= (p.Lys3142=)
n.3355G=
c.9555G= (p.Lys3185=)
2g.73519787G>TCA347280743ALMS1c.9171G>T (p.Lys3057Asn)
c.2563G>T
c.6623G>T
c.3618G>T (p.Lys1206Asn)
c.9552G>T (p.Lys3184Asn)
c.908G>T
c.649G>T
c.3043G>T (p.Asp1015Tyr)
c.9426G>T (p.Lys3142Asn)
n.3355G>T
c.9555G>T (p.Lys3185Asn)
2g.73519788A=CA1260995979ALMS1c.9172A= (p.Met3058=)
c.2564A=
c.6624A=
c.3619A= (p.Met1207=)
c.9553A= (p.Met3185=)
c.909A=
c.650A=
c.3044A= (p.Asp1015=)
c.9427A= (p.Met3143=)
n.3356A=
c.9556A= (p.Met3186=)
2g.73519788A>CCA347280745ALMS1c.9172A>C (p.Met3058Leu)
c.2564A>C
c.6624A>C
c.3619A>C (p.Met1207Leu)
c.9553A>C (p.Met3185Leu)
c.909A>C
c.650A>C
c.3044A>C (p.Asp1015Ala)
c.9427A>C (p.Met3143Leu)
n.3356A>C
c.9556A>C (p.Met3186Leu)
2g.73519788A>GCA347280746ALMS1c.9172A>G (p.Met3058Val)
c.2564A>G
c.6624A>G
c.3619A>G (p.Met1207Val)
c.9553A>G (p.Met3185Val)
c.909A>G
c.650A>G
c.3044A>G (p.Asp1015Gly)
c.9427A>G (p.Met3143Val)
n.3356A>G
c.9556A>G (p.Met3186Val)
 gnomAD v4
2g.73519788A>TCA347280749ALMS1c.9172A>T (p.Met3058Leu)
c.2564A>T
c.6624A>T
c.3619A>T (p.Met1207Leu)
c.9553A>T (p.Met3185Leu)
c.909A>T
c.650A>T
c.3044A>T (p.Asp1015Val)
c.9427A>T (p.Met3143Leu)
n.3356A>T
c.9556A>T (p.Met3186Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73519789T>ACA347280752ALMS1c.9173T>A (p.Met3058Lys)
c.2565T>A
c.6625T>A
c.3620T>A (p.Met1207Lys)
c.9554T>A (p.Met3185Lys)
c.910T>A
c.651T>A
c.3045T>A (p.Asp1015Glu)
c.9428T>A (p.Met3143Lys)
n.3357T>A
c.9557T>A (p.Met3186Lys)
2g.73519789T>CCA347280753ALMS1c.9173T>C (p.Met3058Thr)
c.2565T>C
c.6625T>C
c.3620T>C (p.Met1207Thr)
c.9554T>C (p.Met3185Thr)
c.910T>C
c.651T>C
c.3045T>C (p.Asp1015=)
c.9428T>C (p.Met3143Thr)
n.3357T>C
c.9557T>C (p.Met3186Thr)
 ClinVar dbSNP
2g.73519789T>GCA347280754ALMS1c.9173T>G (p.Met3058Arg)
c.2565T>G
c.6625T>G
c.3620T>G (p.Met1207Arg)
c.9554T>G (p.Met3185Arg)
c.910T>G
c.651T>G
c.3045T>G (p.Asp1015Glu)
c.9428T>G (p.Met3143Arg)
n.3357T>G
c.9557T>G (p.Met3186Arg)
2g.73519790G>ACA347280755ALMS1c.9174G>A (p.Met3058Ile)
c.2566G>A
c.6626G>A
c.3621G>A (p.Met1207Ile)
c.9555G>A (p.Met3185Ile)
c.911G>A
c.652G>A
c.3046G>A (p.Glu1016Lys)
c.9429G>A (p.Met3143Ile)
n.3358G>A
c.9558G>A (p.Met3186Ile)
 ClinVar gnomAD v4
2g.73519790G>CCA347280756ALMS1c.9174G>C (p.Met3058Ile)
c.2566G>C
c.6626G>C
c.3621G>C (p.Met1207Ile)
c.9555G>C (p.Met3185Ile)
c.911G>C
c.652G>C
c.3046G>C (p.Glu1016Gln)
c.9429G>C (p.Met3143Ile)
n.3358G>C
c.9558G>C (p.Met3186Ile)
2g.73519790G>TCA347280759ALMS1c.9174G>T (p.Met3058Ile)
c.2566G>T
c.6626G>T
c.3621G>T (p.Met1207Ile)
c.9555G>T (p.Met3185Ile)
c.911G>T
c.652G>T
c.3046G>T (p.Glu1016Ter)
c.9429G>T (p.Met3143Ile)
n.3358G>T
c.9558G>T (p.Met3186Ile)
2g.73519791A>CCA347280761ALMS1c.9175A>C (p.Lys3059Gln)
c.2567A>C
c.6627A>C
c.3622A>C (p.Lys1208Gln)
c.9556A>C (p.Lys3186Gln)
c.912A>C
c.653A>C
c.3047A>C (p.Glu1016Ala)
c.9430A>C (p.Lys3144Gln)
n.3359A>C
c.9559A>C (p.Lys3187Gln)
 gnomAD v4
2g.73519791A>GCA347280763ALMS1c.9175A>G (p.Lys3059Glu)
c.2567A>G
c.6627A>G
c.3622A>G (p.Lys1208Glu)
c.9556A>G (p.Lys3186Glu)
c.912A>G
c.653A>G
c.3047A>G (p.Glu1016Gly)
c.9430A>G (p.Lys3144Glu)
n.3359A>G
c.9559A>G (p.Lys3187Glu)
2g.73519791A>TCA347280764ALMS1c.9175A>T (p.Lys3059Ter)
c.2567A>T
c.6627A>T
c.3622A>T (p.Lys1208Ter)
c.9556A>T (p.Lys3186Ter)
c.912A>T
c.653A>T
c.3047A>T (p.Glu1016Val)
c.9430A>T (p.Lys3144Ter)
n.3359A>T
c.9559A>T (p.Lys3187Ter)
2g.73519792A>CCA347280776ALMS1c.9176A>C (p.Lys3059Thr)
c.2568A>C
c.6628A>C
c.3623A>C (p.Lys1208Thr)
c.9557A>C (p.Lys3186Thr)
c.913A>C
c.654A>C
c.3048A>C (p.Glu1016Asp)
c.9431A>C (p.Lys3144Thr)
n.3360A>C
c.9560A>C (p.Lys3187Thr)
2g.73519792A>GCA347280769ALMS1c.9176A>G (p.Lys3059Arg)
c.2568A>G
c.6628A>G
c.3623A>G (p.Lys1208Arg)
c.9557A>G (p.Lys3186Arg)
c.913A>G
c.654A>G
c.3048A>G (p.Glu1016=)
c.9431A>G (p.Lys3144Arg)
n.3360A>G
c.9560A>G (p.Lys3187Arg)
2g.73519792A>TCA347280766ALMS1c.9176A>T (p.Lys3059Met)
c.2568A>T
c.6628A>T
c.3623A>T (p.Lys1208Met)
c.9557A>T (p.Lys3186Met)
c.913A>T
c.654A>T
c.3048A>T (p.Glu1016Asp)
c.9431A>T (p.Lys3144Met)
n.3360A>T
c.9560A>T (p.Lys3187Met)
2g.73519793G>ACA427015748ALMS1c.9177G>A (p.Lys3059=)
c.2569G>A
c.6629G>A
c.3624G>A (p.Lys1208=)
c.9558G>A (p.Lys3186=)
c.914G>A
c.655G>A
c.3049G>A (p.Asp1017Asn)
c.9432G>A (p.Lys3144=)
n.3361G>A
c.9561G>A (p.Lys3187=)
2g.73519793G>CCA347280778ALMS1c.9177G>C (p.Lys3059Asn)
c.2569G>C
c.6629G>C
c.3624G>C (p.Lys1208Asn)
c.9558G>C (p.Lys3186Asn)
c.914G>C
c.655G>C
c.3049G>C (p.Asp1017His)
c.9432G>C (p.Lys3144Asn)
n.3361G>C
c.9561G>C (p.Lys3187Asn)
2g.73519793G>TCA347280781ALMS1c.9177G>T (p.Lys3059Asn)
c.2569G>T
c.6629G>T
c.3624G>T (p.Lys1208Asn)
c.9558G>T (p.Lys3186Asn)
c.914G>T
c.655G>T
c.3049G>T (p.Asp1017Tyr)
c.9432G>T (p.Lys3144Asn)
n.3361G>T
c.9561G>T (p.Lys3187Asn)
2g.73519793_73519802dupCA2659619920ALMS1c.9177_9186dup (p.Ser3063AspfsTer8)
c.2569_2578dup
c.6629_6638dup
c.3624_3633dup (p.Ser1212AspfsTer8)
c.9558_9567dup (p.Ser3190AspfsTer8)
c.914_923dup
c.655_664dup
c.3049_3058dup (p.Phe1020Ter)
c.9432_9441dup (p.Ser3148AspfsTer8)
n.3361_3370dup
c.9561_9570dup (p.Ser3191AspfsTer8)
 gnomAD v4
2g.73519794A>CCA347280784ALMS1c.9178A>C (p.Thr3060Pro)
c.2570A>C
c.6630A>C
c.3625A>C (p.Thr1209Pro)
c.9559A>C (p.Thr3187Pro)
c.915A>C
c.656A>C
c.3050A>C (p.Asp1017Ala)
c.9433A>C (p.Thr3145Pro)
n.3362A>C
c.9562A>C (p.Thr3188Pro)
2g.73519794A>GCA347280786ALMS1c.9178A>G (p.Thr3060Ala)
c.2570A>G
c.6630A>G
c.3625A>G (p.Thr1209Ala)
c.9559A>G (p.Thr3187Ala)
c.915A>G
c.656A>G
c.3050A>G (p.Asp1017Gly)
c.9433A>G (p.Thr3145Ala)
n.3362A>G
c.9562A>G (p.Thr3188Ala)
 gnomAD v4
2g.73519794A>TCA347280788ALMS1c.9178A>T (p.Thr3060Ser)
c.2570A>T
c.6630A>T
c.3625A>T (p.Thr1209Ser)
c.9559A>T (p.Thr3187Ser)
c.915A>T
c.656A>T
c.3050A>T (p.Asp1017Val)
c.9433A>T (p.Thr3145Ser)
n.3362A>T
c.9562A>T (p.Thr3188Ser)
 gnomAD v4
2g.73519795C>ACA347280790ALMS1c.9179C>A (p.Thr3060Asn)
c.2571C>A
c.6631C>A
c.3626C>A (p.Thr1209Asn)
c.9560C>A (p.Thr3187Asn)
c.916C>A
c.657C>A
c.3051C>A (p.Asp1017Glu)
c.9434C>A (p.Thr3145Asn)
n.3363C>A
c.9563C>A (p.Thr3188Asn)
 gnomAD v4
2g.73519795C>GCA347280792ALMS1c.9179C>G (p.Thr3060Ser)
c.2571C>G
c.6631C>G
c.3626C>G (p.Thr1209Ser)
c.9560C>G (p.Thr3187Ser)
c.916C>G
c.657C>G
c.3051C>G (p.Asp1017Glu)
c.9434C>G (p.Thr3145Ser)
n.3363C>G
c.9563C>G (p.Thr3188Ser)
2g.73519795C>TCA347280793ALMS1c.9179C>T (p.Thr3060Ile)
c.2571C>T
c.6631C>T
c.3626C>T (p.Thr1209Ile)
c.9560C>T (p.Thr3187Ile)
c.916C>T
c.657C>T
c.3051C>T (p.Asp1017=)
c.9434C>T (p.Thr3145Ile)
n.3363C>T
c.9563C>T (p.Thr3188Ile)
 gnomAD v4
2g.73519796C>ACA427015750ALMS1c.9180C>A (p.Thr3060=)
c.2572C>A
c.6632C>A
c.3627C>A (p.Thr1209=)
c.9561C>A (p.Thr3187=)
c.917C>A
c.658C>A
c.3052C>A (p.Pro1018Thr)
c.9435C>A (p.Thr3145=)
n.3364C>A
c.9564C>A (p.Thr3188=)
2g.73519796C=CA1260995980ALMS1c.9180C= (p.Thr3060=)
c.2572C=
c.6632C=
c.3627C= (p.Thr1209=)
c.9561C= (p.Thr3187=)
c.917C=
c.658C=
c.3052C= (p.Pro1018=)
c.9435C= (p.Thr3145=)
n.3364C=
c.9564C= (p.Thr3188=)
2g.73519796C>GCA427015751ALMS1c.9180C>G (p.Thr3060=)
c.2572C>G
c.6632C>G
c.3627C>G (p.Thr1209=)
c.9561C>G (p.Thr3187=)
c.917C>G
c.658C>G
c.3052C>G (p.Pro1018Ala)
c.9435C>G (p.Thr3145=)
n.3364C>G
c.9564C>G (p.Thr3188=)
2g.73519796C>TCA1714698ALMS1c.9180C>T (p.Thr3060=)
c.2572C>T
c.6632C>T
c.3627C>T (p.Thr1209=)
c.9561C>T (p.Thr3187=)
c.917C>T
c.658C>T
c.3052C>T (p.Pro1018Ser)
c.9435C>T (p.Thr3145=)
n.3364C>T
c.9564C>T (p.Thr3188=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73519797C>ACA347280798ALMS1c.9181C>A (p.Pro3061Thr)
c.2573C>A
c.6633C>A
c.3628C>A (p.Pro1210Thr)
c.9562C>A (p.Pro3188Thr)
c.918C>A
c.659C>A
c.3053C>A (p.Pro1018His)
c.9436C>A (p.Pro3146Thr)
n.3365C>A
c.9565C>A (p.Pro3189Thr)
2g.73519797C>GCA347280799ALMS1c.9181C>G (p.Pro3061Ala)
c.2573C>G
c.6633C>G
c.3628C>G (p.Pro1210Ala)
c.9562C>G (p.Pro3188Ala)
c.918C>G
c.659C>G
c.3053C>G (p.Pro1018Arg)
c.9436C>G (p.Pro3146Ala)
n.3365C>G
c.9565C>G (p.Pro3189Ala)
2g.73519797C>TCA347280802ALMS1c.9181C>T (p.Pro3061Ser)
c.2573C>T
c.6633C>T
c.3628C>T (p.Pro1210Ser)
c.9562C>T (p.Pro3188Ser)
c.918C>T
c.659C>T
c.3053C>T (p.Pro1018Leu)
c.9436C>T (p.Pro3146Ser)
n.3365C>T
c.9565C>T (p.Pro3189Ser)
2g.73519798C>ACA1714699ALMS1c.9182C>A (p.Pro3061Gln)
c.2574C>A
c.6634C>A
c.3629C>A (p.Pro1210Gln)
c.9563C>A (p.Pro3188Gln)
c.919C>A
c.660C>A
c.3054C>A (p.Pro1018=)
c.9437C>A (p.Pro3146Gln)
n.3366C>A
c.9566C>A (p.Pro3189Gln)
 dbSNP ExAC gnomAD v2
2g.73519798C=CA1260995981ALMS1c.9182C= (p.Pro3061=)
c.2574C=
c.6634C=
c.3629C= (p.Pro1210=)
c.9563C= (p.Pro3188=)
c.919C=
c.660C=
c.3054C= (p.Pro1018=)
c.9437C= (p.Pro3146=)
n.3366C=
c.9566C= (p.Pro3189=)
2g.73519798C>GCA347280807ALMS1c.9182C>G (p.Pro3061Arg)
c.2574C>G
c.6634C>G
c.3629C>G (p.Pro1210Arg)
c.9563C>G (p.Pro3188Arg)
c.919C>G
c.660C>G
c.3054C>G (p.Pro1018=)
c.9437C>G (p.Pro3146Arg)
n.3366C>G
c.9566C>G (p.Pro3189Arg)
2g.73519798C>TCA347280804ALMS1c.9182C>T (p.Pro3061Leu)
c.2574C>T
c.6634C>T
c.3629C>T (p.Pro1210Leu)
c.9563C>T (p.Pro3188Leu)
c.919C>T
c.660C>T
c.3054C>T (p.Pro1018=)
c.9437C>T (p.Pro3146Leu)
n.3366C>T
c.9566C>T (p.Pro3189Leu)
 gnomAD v4
2g.73519799A=CA1260995982ALMS1c.9183A= (p.Pro3061=)
c.2575A=
c.6635A=
c.3630A= (p.Pro1210=)
c.9564A= (p.Pro3188=)
c.920A=
c.661A=
c.3055A= (p.Thr1019=)
c.9438A= (p.Pro3146=)
n.3367A=
c.9567A= (p.Pro3189=)
2g.73519799A>CCA427015752ALMS1c.9183A>C (p.Pro3061=)
c.2575A>C
c.6635A>C
c.3630A>C (p.Pro1210=)
c.9564A>C (p.Pro3188=)
c.920A>C
c.661A>C
c.3055A>C (p.Thr1019Pro)
c.9438A>C (p.Pro3146=)
n.3367A>C
c.9567A>C (p.Pro3189=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73519799A>GCA427015753ALMS1c.9183A>G (p.Pro3061=)
c.2575A>G
c.6635A>G
c.3630A>G (p.Pro1210=)
c.9564A>G (p.Pro3188=)
c.920A>G
c.661A>G
c.3055A>G (p.Thr1019Ala)
c.9438A>G (p.Pro3146=)
n.3367A>G
c.9567A>G (p.Pro3189=)
 dbSNP gnomAD v2
2g.73519799A>TCA427015754ALMS1c.9183A>T (p.Pro3061=)
c.2575A>T
c.6635A>T
c.3630A>T (p.Pro1210=)
c.9564A>T (p.Pro3188=)
c.920A>T
c.661A>T
c.3055A>T (p.Thr1019Ser)
c.9438A>T (p.Pro3146=)
n.3367A>T
c.9567A>T (p.Pro3189=)
2g.73519800C>ACA347280812ALMS1c.9184C>A (p.Leu3062Ile)
c.2576C>A
c.6636C>A
c.3631C>A (p.Leu1211Ile)
c.9565C>A (p.Leu3189Ile)
c.921C>A
c.662C>A
c.3056C>A (p.Thr1019Asn)
c.9439C>A (p.Leu3147Ile)
n.3368C>A
c.9568C>A (p.Leu3190Ile)
2g.73519800C=CA1260995983ALMS1c.9184C= (p.Leu3062=)
c.2576C=
c.6636C=
c.3631C= (p.Leu1211=)
c.9565C= (p.Leu3189=)
c.921C=
c.662C=
c.3056C= (p.Thr1019=)
c.9439C= (p.Leu3147=)
n.3368C=
c.9568C= (p.Leu3190=)
2g.73519800C>GCA347280813ALMS1c.9184C>G (p.Leu3062Val)
c.2576C>G
c.6636C>G
c.3631C>G (p.Leu1211Val)
c.9565C>G (p.Leu3189Val)
c.921C>G
c.662C>G
c.3056C>G (p.Thr1019Ser)
c.9439C>G (p.Leu3147Val)
n.3368C>G
c.9568C>G (p.Leu3190Val)
 gnomAD v4
2g.73519800C>TCA1714700ALMS1c.9184C>T (p.Leu3062Phe)
c.2576C>T
c.6636C>T
c.3631C>T (p.Leu1211Phe)
c.9565C>T (p.Leu3189Phe)
c.921C>T
c.662C>T
c.3056C>T (p.Thr1019Ile)
c.9439C>T (p.Leu3147Phe)
n.3368C>T
c.9568C>T (p.Leu3190Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73519801T>ACA347280814ALMS1c.9185T>A (p.Leu3062His)
c.2577T>A
c.6637T>A
c.3632T>A (p.Leu1211His)
c.9566T>A (p.Leu3189His)
c.922T>A
c.663T>A
c.3057T>A (p.Thr1019=)
c.9440T>A (p.Leu3147His)
n.3369T>A
c.9569T>A (p.Leu3190His)
2g.73519801T>CCA347280815ALMS1c.9185T>C (p.Leu3062Pro)
c.2577T>C
c.6637T>C
c.3632T>C (p.Leu1211Pro)
c.9566T>C (p.Leu3189Pro)
c.922T>C
c.663T>C
c.3057T>C (p.Thr1019=)
c.9440T>C (p.Leu3147Pro)
n.3369T>C
c.9569T>C (p.Leu3190Pro)
 ClinVar dbSNP gnomAD v4
2g.73519801T>GCA347280816ALMS1c.9185T>G (p.Leu3062Arg)
c.2577T>G
c.6637T>G
c.3632T>G (p.Leu1211Arg)
c.9566T>G (p.Leu3189Arg)
c.922T>G
c.663T>G
c.3057T>G (p.Thr1019=)
c.9440T>G (p.Leu3147Arg)
n.3369T>G
c.9569T>G (p.Leu3190Arg)
2g.73519801T=CA1260995984ALMS1c.9185T= (p.Leu3062=)
c.2577T=
c.6637T=
c.3632T= (p.Leu1211=)
c.9566T= (p.Leu3189=)
c.922T=
c.663T=
c.3057T= (p.Thr1019=)
c.9440T= (p.Leu3147=)
n.3369T=
c.9569T= (p.Leu3190=)
2g.73519802T>ACA427015755ALMS1c.9186T>A (p.Leu3062=)
c.2578T>A
c.6638T>A
c.3633T>A (p.Leu1211=)
c.9567T>A (p.Leu3189=)
c.923T>A
c.664T>A
c.3058T>A (p.Phe1020Ile)
c.9441T>A (p.Leu3147=)
n.3370T>A
c.9570T>A (p.Leu3190=)
2g.73519802T>CCA427015756ALMS1c.9186T>C (p.Leu3062=)
c.2578T>C
c.6638T>C
c.3633T>C (p.Leu1211=)
c.9567T>C (p.Leu3189=)
c.923T>C
c.664T>C
c.3058T>C (p.Phe1020Leu)
c.9441T>C (p.Leu3147=)
n.3370T>C
c.9570T>C (p.Leu3190=)
2g.73519802T>GCA427015757ALMS1c.9186T>G (p.Leu3062=)
c.2578T>G
c.6638T>G
c.3633T>G (p.Leu1211=)
c.9567T>G (p.Leu3189=)
c.923T>G
c.664T>G
c.3058T>G (p.Phe1020Val)
c.9441T>G (p.Leu3147=)
n.3370T>G
c.9570T>G (p.Leu3190=)
2g.73519803T>ACA347280819ALMS1c.9187T>A (p.Ser3063Thr)
c.2579T>A
c.6639T>A
c.3634T>A (p.Ser1212Thr)
c.9568T>A (p.Ser3190Thr)
c.924T>A
c.665T>A
c.3059T>A (p.Phe1020Tyr)
c.9442T>A (p.Ser3148Thr)
n.3371T>A
c.9571T>A (p.Ser3191Thr)
2g.73519803T>CCA347280818ALMS1c.9187T>C (p.Ser3063Pro)
c.2579T>C
c.6639T>C
c.3634T>C (p.Ser1212Pro)
c.9568T>C (p.Ser3190Pro)
c.924T>C
c.665T>C
c.3059T>C (p.Phe1020Ser)
c.9442T>C (p.Ser3148Pro)
n.3371T>C
c.9571T>C (p.Ser3191Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.73519803T>GCA347280817ALMS1c.9187T>G (p.Ser3063Ala)
c.2579T>G
c.6639T>G
c.3634T>G (p.Ser1212Ala)
c.9568T>G (p.Ser3190Ala)
c.924T>G
c.665T>G
c.3059T>G (p.Phe1020Cys)
c.9442T>G (p.Ser3148Ala)
n.3371T>G
c.9571T>G (p.Ser3191Ala)
2g.73519803T=CA1260995985ALMS1c.9187T= (p.Ser3063=)
c.2579T=
c.6639T=
c.3634T= (p.Ser1212=)
c.9568T= (p.Ser3190=)
c.924T=
c.665T=
c.3059T= (p.Phe1020=)
c.9442T= (p.Ser3148=)
n.3371T=
c.9571T= (p.Ser3191=)
2g.73519804C>ACA1714701ALMS1c.9188C>A (p.Ser3063Tyr)
c.2580C>A
c.6640C>A
c.3635C>A (p.Ser1212Tyr)
c.9569C>A (p.Ser3190Tyr)
c.925C>A
c.666C>A
c.3060C>A (p.Phe1020Leu)
c.9443C>A (p.Ser3148Tyr)
n.3372C>A
c.9572C>A (p.Ser3191Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73519804C=CA1260995986ALMS1c.9188C= (p.Ser3063=)
c.2580C=
c.6640C=
c.3635C= (p.Ser1212=)
c.9569C= (p.Ser3190=)
c.925C=
c.666C=
c.3060C= (p.Phe1020=)
c.9443C= (p.Ser3148=)
n.3372C=
c.9572C= (p.Ser3191=)
2g.73519804C>GCA347280822ALMS1c.9188C>G (p.Ser3063Cys)
c.2580C>G
c.6640C>G
c.3635C>G (p.Ser1212Cys)
c.9569C>G (p.Ser3190Cys)
c.925C>G
c.666C>G
c.3060C>G (p.Phe1020Leu)
c.9443C>G (p.Ser3148Cys)
n.3372C>G
c.9572C>G (p.Ser3191Cys)
2g.73519804C>TCA347280825ALMS1c.9188C>T (p.Ser3063Phe)
c.2580C>T
c.6640C>T
c.3635C>T (p.Ser1212Phe)
c.9569C>T (p.Ser3190Phe)
c.925C>T
c.666C>T
c.3060C>T (p.Phe1020=)
c.9443C>T (p.Ser3148Phe)
n.3372C>T
c.9572C>T (p.Ser3191Phe)
2g.73519805T>ACA427015758ALMS1c.9189T>A (p.Ser3063=)
c.2581T>A
c.6641T>A
c.3636T>A (p.Ser1212=)
c.9570T>A (p.Ser3190=)
c.926T>A
c.667T>A
c.3061T>A (p.Cys1021Ser)
c.9444T>A (p.Ser3148=)
n.3373T>A
c.9573T>A (p.Ser3191=)
2g.73519805T>CCA427015759ALMS1c.9189T>C (p.Ser3063=)
c.2581T>C
c.6641T>C
c.3636T>C (p.Ser1212=)
c.9570T>C (p.Ser3190=)
c.926T>C
c.667T>C
c.3061T>C (p.Cys1021Arg)
c.9444T>C (p.Ser3148=)
n.3373T>C
c.9573T>C (p.Ser3191=)
2g.73519805T>GCA427015760ALMS1c.9189T>G (p.Ser3063=)
c.2581T>G
c.6641T>G
c.3636T>G (p.Ser1212=)
c.9570T>G (p.Ser3190=)
c.926T>G
c.667T>G
c.3061T>G (p.Cys1021Gly)
c.9444T>G (p.Ser3148=)
n.3373T>G
c.9573T>G (p.Ser3191=)
2g.73519806G>ACA347280827ALMS1c.9190G>A (p.Ala3064Thr)
c.2582G>A
c.6642G>A
c.3637G>A (p.Ala1213Thr)
c.9571G>A (p.Ala3191Thr)
c.927G>A
c.668G>A
c.3062G>A (p.Cys1021Tyr)
c.9445G>A (p.Ala3149Thr)
n.3374G>A
c.9574G>A (p.Ala3192Thr)
2g.73519806G>CCA1714702ALMS1c.9190G>C (p.Ala3064Pro)
c.2582G>C
c.6642G>C
c.3637G>C (p.Ala1213Pro)
c.9571G>C (p.Ala3191Pro)
c.927G>C
c.668G>C
c.3062G>C (p.Cys1021Ser)
c.9445G>C (p.Ala3149Pro)
n.3374G>C
c.9574G>C (p.Ala3192Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.73519806G=CA1260995987ALMS1c.9190G= (p.Ala3064=)
c.2582G=
c.6642G=
c.3637G= (p.Ala1213=)
c.9571G= (p.Ala3191=)
c.927G=
c.668G=
c.3062G= (p.Cys1021=)
c.9445G= (p.Ala3149=)
n.3374G=
c.9574G= (p.Ala3192=)
2g.73519806G>TCA347280828ALMS1c.9190G>T (p.Ala3064Ser)
c.2582G>T
c.6642G>T
c.3637G>T (p.Ala1213Ser)
c.9571G>T (p.Ala3191Ser)
c.927G>T
c.668G>T
c.3062G>T (p.Cys1021Phe)
c.9445G>T (p.Ala3149Ser)
n.3374G>T
c.9574G>T (p.Ala3192Ser)
2g.73519807C>ACA347280829ALMS1c.9191C>A (p.Ala3064Asp)
c.2583C>A
c.6643C>A
c.3638C>A (p.Ala1213Asp)
c.9572C>A (p.Ala3191Asp)
c.928C>A
c.669C>A
c.3063C>A (p.Cys1021Ter)
c.9446C>A (p.Ala3149Asp)
n.3375C>A
c.9575C>A (p.Ala3192Asp)
2g.73519807C=CA1260995988ALMS1c.9191C= (p.Ala3064=)
c.2583C=
c.6643C=
c.3638C= (p.Ala1213=)
c.9572C= (p.Ala3191=)
c.928C=
c.669C=
c.3063C= (p.Cys1021=)
c.9446C= (p.Ala3149=)
n.3375C=
c.9575C= (p.Ala3192=)
2g.73519807C>GCA347280831ALMS1c.9191C>G (p.Ala3064Gly)
c.2583C>G
c.6643C>G
c.3638C>G (p.Ala1213Gly)
c.9572C>G (p.Ala3191Gly)
c.928C>G
c.669C>G
c.3063C>G (p.Cys1021Trp)
c.9446C>G (p.Ala3149Gly)
n.3375C>G
c.9575C>G (p.Ala3192Gly)
2g.73519807C>TCA347280830ALMS1c.9191C>T (p.Ala3064Val)
c.2583C>T
c.6643C>T
c.3638C>T (p.Ala1213Val)
c.9572C>T (p.Ala3191Val)
c.928C>T
c.669C>T
c.3063C>T (p.Cys1021=)
c.9446C>T (p.Ala3149Val)
n.3375C>T
c.9575C>T (p.Ala3192Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73519808T>ACA427015763ALMS1c.9192T>A (p.Ala3064=)
c.2584T>A
c.6644T>A
c.3639T>A (p.Ala1213=)
c.9573T>A (p.Ala3191=)
c.929T>A
c.670T>A
c.3064T>A (p.Phe1022Ile)
c.9447T>A (p.Ala3149=)
n.3376T>A
c.9576T>A (p.Ala3192=)
2g.73519808T>CCA427015762ALMS1c.9192T>C (p.Ala3064=)
c.2584T>C
c.6644T>C
c.3639T>C (p.Ala1213=)
c.9573T>C (p.Ala3191=)
c.929T>C
c.670T>C
c.3064T>C (p.Phe1022Leu)
c.9447T>C (p.Ala3149=)
n.3376T>C
c.9576T>C (p.Ala3192=)
 ClinVar dbSNP
2g.73519808T>GCA427015761ALMS1c.9192T>G (p.Ala3064=)
c.2584T>G
c.6644T>G
c.3639T>G (p.Ala1213=)
c.9573T>G (p.Ala3191=)
c.929T>G
c.670T>G
c.3064T>G (p.Phe1022Val)
c.9447T>G (p.Ala3149=)
n.3376T>G
c.9576T>G (p.Ala3192=)
2g.73519809T>ACA347280834ALMS1c.9193T>A (p.Phe3065Ile)
c.2585T>A
c.6645T>A
c.3640T>A (p.Phe1214Ile)
c.9574T>A (p.Phe3192Ile)
c.930T>A
c.671T>A
c.3065T>A (p.Phe1022Tyr)
c.9448T>A (p.Phe3150Ile)
n.3377T>A
c.9577T>A (p.Phe3193Ile)
2g.73519809T>CCA347280836ALMS1c.9193T>C (p.Phe3065Leu)
c.2585T>C
c.6645T>C
c.3640T>C (p.Phe1214Leu)
c.9574T>C (p.Phe3192Leu)
c.930T>C
c.671T>C
c.3065T>C (p.Phe1022Ser)
c.9448T>C (p.Phe3150Leu)
n.3377T>C
c.9577T>C (p.Phe3193Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73519809T>GCA347280839ALMS1c.9193T>G (p.Phe3065Val)
c.2585T>G
c.6645T>G
c.3640T>G (p.Phe1214Val)
c.9574T>G (p.Phe3192Val)
c.930T>G
c.671T>G
c.3065T>G (p.Phe1022Cys)
c.9448T>G (p.Phe3150Val)
n.3377T>G
c.9577T>G (p.Phe3193Val)
2g.73519809T=CA1260995989ALMS1c.9193T= (p.Phe3065=)
c.2585T=
c.6645T=
c.3640T= (p.Phe1214=)
c.9574T= (p.Phe3192=)
c.930T=
c.671T=
c.3065T= (p.Phe1022=)
c.9448T= (p.Phe3150=)
n.3377T=
c.9577T= (p.Phe3193=)
2g.73519810T>ACA347280844ALMS1c.9194T>A (p.Phe3065Tyr)
c.2586T>A
c.6646T>A
c.3641T>A (p.Phe1214Tyr)
c.9575T>A (p.Phe3192Tyr)
c.931T>A
c.672T>A
c.3066T>A (p.Phe1022Leu)
c.9449T>A (p.Phe3150Tyr)
n.3378T>A
c.9578T>A (p.Phe3193Tyr)
2g.73519810T>CCA347280847ALMS1c.9194T>C (p.Phe3065Ser)
c.2586T>C
c.6646T>C
c.3641T>C (p.Phe1214Ser)
c.9575T>C (p.Phe3192Ser)
c.931T>C
c.672T>C
c.3066T>C (p.Phe1022=)
c.9449T>C (p.Phe3150Ser)
n.3378T>C
c.9578T>C (p.Phe3193Ser)
2g.73519810T>GCA347280849ALMS1c.9194T>G (p.Phe3065Cys)
c.2586T>G
c.6646T>G
c.3641T>G (p.Phe1214Cys)
c.9575T>G (p.Phe3192Cys)
c.931T>G
c.672T>G
c.3066T>G (p.Phe1022Leu)
c.9449T>G (p.Phe3150Cys)
n.3378T>G
c.9578T>G (p.Phe3193Cys)
2g.73519811C>ACA347280854ALMS1c.9195C>A (p.Phe3065Leu)
c.2587C>A
c.6647C>A
c.3642C>A (p.Phe1214Leu)
c.9576C>A (p.Phe3192Leu)
c.932C>A
c.673C>A
c.3067C>A (p.Leu1023Ile)
c.9450C>A (p.Phe3150Leu)
n.3379C>A
c.9579C>A (p.Phe3193Leu)
2g.73519811C=CA1260995990ALMS1c.9195C= (p.Phe3065=)
c.2587C=
c.6647C=
c.3642C= (p.Phe1214=)
c.9576C= (p.Phe3192=)
c.932C=
c.673C=
c.3067C= (p.Leu1023=)
c.9450C= (p.Phe3150=)
n.3379C=
c.9579C= (p.Phe3193=)
2g.73519811C>GCA347280855ALMS1c.9195C>G (p.Phe3065Leu)
c.2587C>G
c.6647C>G
c.3642C>G (p.Phe1214Leu)
c.9576C>G (p.Phe3192Leu)
c.932C>G
c.673C>G
c.3067C>G (p.Leu1023Val)
c.9450C>G (p.Phe3150Leu)
n.3379C>G
c.9579C>G (p.Phe3193Leu)
2g.73519811C>TCA50397636ALMS1c.9195C>T (p.Phe3065=)
c.2587C>T
c.6647C>T
c.3642C>T (p.Phe1214=)
c.9576C>T (p.Phe3192=)
c.932C>T
c.673C>T
c.3067C>T (p.Leu1023Phe)
c.9450C>T (p.Phe3150=)
n.3379C>T
c.9579C>T (p.Phe3193=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.73519812T>ACA347280856ALMS1c.9196T>A (p.Ser3066Thr)
c.2588T>A
c.6648T>A
c.3643T>A (p.Ser1215Thr)
c.9577T>A (p.Ser3193Thr)
c.933T>A
c.674T>A
c.3068T>A (p.Leu1023His)
c.9451T>A (p.Ser3151Thr)
n.3380T>A
c.9580T>A (p.Ser3194Thr)
2g.73519812T>CCA347280857ALMS1c.9196T>C (p.Ser3066Pro)
c.2588T>C
c.6648T>C
c.3643T>C (p.Ser1215Pro)
c.9577T>C (p.Ser3193Pro)
c.933T>C
c.674T>C
c.3068T>C (p.Leu1023Pro)
c.9451T>C (p.Ser3151Pro)
n.3380T>C
c.9580T>C (p.Ser3194Pro)
2g.73519812T>GCA347280858ALMS1c.9196T>G (p.Ser3066Ala)
c.2588T>G
c.6648T>G
c.3643T>G (p.Ser1215Ala)
c.9577T>G (p.Ser3193Ala)
c.933T>G
c.674T>G
c.3068T>G (p.Leu1023Arg)
c.9451T>G (p.Ser3151Ala)
n.3380T>G
c.9580T>G (p.Ser3194Ala)
2g.73519817_73519831delCA2659619921ALMS1c.9201_9215del (p.Glu3067_Ser3071del)
c.2593_2607del
c.6653_6667del
c.3648_3662del (p.Glu1216_Ser1220del)
c.9582_9596del (p.Glu3194_Ser3198del)
c.938_952del
c.679_693del
c.3073_3087del (n.3073_3087del)
c.9456_9470del (p.Glu3152_Ser3156del)
n.3385_3399del
c.9585_9599del (p.Glu3195_Ser3199del)
 gnomAD v4
2g.73519813C>ACA347280860ALMS1c.9197C>A (p.Ser3066Tyr)
c.2589C>A
c.6649C>A
c.3644C>A (p.Ser1215Tyr)
c.9578C>A (p.Ser3193Tyr)
c.934C>A
c.675C>A
c.3069C>A (p.Leu1023=)
c.9452C>A (p.Ser3151Tyr)
n.3381C>A
c.9581C>A (p.Ser3194Tyr)
2g.73519813C>GCA347280868ALMS1c.9197C>G (p.Ser3066Cys)
c.2589C>G
c.6649C>G
c.3644C>G (p.Ser1215Cys)
c.9578C>G (p.Ser3193Cys)
c.934C>G
c.675C>G
c.3069C>G (p.Leu1023=)
c.9452C>G (p.Ser3151Cys)
n.3381C>G
c.9581C>G (p.Ser3194Cys)
2g.73519813C>TCA347280862ALMS1c.9197C>T (p.Ser3066Phe)
c.2589C>T
c.6649C>T
c.3644C>T (p.Ser1215Phe)
c.9578C>T (p.Ser3193Phe)
c.934C>T
c.675C>T
c.3069C>T (p.Leu1023=)
c.9452C>T (p.Ser3151Phe)
n.3381C>T
c.9581C>T (p.Ser3194Phe)
 ClinVar

Number of alleles fetched