Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98395782T>CCA2660313239CNGA3c.674-62T>C (n.674-62T>C)
c.686-62T>C (n.686-62T>C)
c.620-62T>C (n.620-62T>C)
c.785-62T>C (n.785-62T>C)
c.839-62T>C (n.839-62T>C)
 gnomAD v4
2g.98395782T>GCA2699953367CNGA3c.674-62T>G (n.674-62T>G)
c.686-62T>G (n.686-62T>G)
c.620-62T>G (n.620-62T>G)
c.785-62T>G (n.785-62T>G)
c.839-62T>G (n.839-62T>G)
 dbSNP
2g.98395783G>TCA2660313240CNGA3c.674-61G>T (n.674-61G>T)
c.686-61G>T (n.686-61G>T)
c.620-61G>T (n.620-61G>T)
c.785-61G>T (n.785-61G>T)
c.839-61G>T (n.839-61G>T)
 gnomAD v4
2g.98395784T>CCA2660313241CNGA3c.674-60T>C (n.674-60T>C)
c.686-60T>C (n.686-60T>C)
c.620-60T>C (n.620-60T>C)
c.785-60T>C (n.785-60T>C)
c.839-60T>C (n.839-60T>C)
 gnomAD v4
2g.98395784T>GCA2660313242CNGA3c.674-60T>G (n.674-60T>G)
c.686-60T>G (n.686-60T>G)
c.620-60T>G (n.620-60T>G)
c.785-60T>G (n.785-60T>G)
c.839-60T>G (n.839-60T>G)
 gnomAD v4
2g.98395785A>GCA2660313243CNGA3c.674-59A>G (n.674-59A>G)
c.686-59A>G (n.686-59A>G)
c.620-59A>G (n.620-59A>G)
c.785-59A>G (n.785-59A>G)
c.839-59A>G (n.839-59A>G)
 gnomAD v4
2g.98395785A>TCA2577045491CNGA3c.674-59A>T (n.674-59A>T)
c.686-59A>T (n.686-59A>T)
c.620-59A>T (n.620-59A>T)
c.785-59A>T (n.785-59A>T)
c.839-59A>T (n.839-59A>T)
 gnomAD v4
2g.98395786C>ACA2660313244CNGA3c.674-58C>A (n.674-58C>A)
c.686-58C>A (n.686-58C>A)
c.620-58C>A (n.620-58C>A)
c.785-58C>A (n.785-58C>A)
c.839-58C>A (n.839-58C>A)
 gnomAD v4
2g.98395786C>TCA2660313245CNGA3c.674-58C>T (n.674-58C>T)
c.686-58C>T (n.686-58C>T)
c.620-58C>T (n.620-58C>T)
c.785-58C>T (n.785-58C>T)
c.839-58C>T (n.839-58C>T)
 gnomAD v4
2g.98395787T>CCA2577045495CNGA3c.674-57T>C (n.674-57T>C)
c.686-57T>C (n.686-57T>C)
c.620-57T>C (n.620-57T>C)
c.785-57T>C (n.785-57T>C)
c.839-57T>C (n.839-57T>C)
 gnomAD v4
2g.98395788A=CA1273419621CNGA3c.674-56A= (n.674-56A=)
c.686-56A= (n.686-56A=)
c.620-56A= (n.620-56A=)
c.785-56A= (n.785-56A=)
c.839-56A= (n.839-56A=)
2g.98395788A>GCA1273419622CNGA3c.674-56A>G (n.674-56A>G)
c.686-56A>G (n.686-56A>G)
c.620-56A>G (n.620-56A>G)
c.785-56A>G (n.785-56A>G)
c.839-56A>G (n.839-56A>G)
 dbSNP gnomAD v4
2g.98395788A>TCA2577045498CNGA3c.674-56A>T (n.674-56A>T)
c.686-56A>T (n.686-56A>T)
c.620-56A>T (n.620-56A>T)
c.785-56A>T (n.785-56A>T)
c.839-56A>T (n.839-56A>T)
2g.98395789T>ACA2660313246CNGA3c.674-55T>A (n.674-55T>A)
c.686-55T>A (n.686-55T>A)
c.620-55T>A (n.620-55T>A)
c.785-55T>A (n.785-55T>A)
c.839-55T>A (n.839-55T>A)
 dbSNP gnomAD v4
2g.98395789T>CCA895882080CNGA3c.674-55T>C (n.674-55T>C)
c.686-55T>C (n.686-55T>C)
c.620-55T>C (n.620-55T>C)
c.785-55T>C (n.785-55T>C)
c.839-55T>C (n.839-55T>C)
 dbSNP gnomAD v4
2g.98395789T=CA1273419623CNGA3c.674-55T= (n.674-55T=)
c.686-55T= (n.686-55T=)
c.620-55T= (n.620-55T=)
c.785-55T= (n.785-55T=)
c.839-55T= (n.839-55T=)
2g.98395790G>ACA2660313247CNGA3c.674-54G>A (n.674-54G>A)
c.686-54G>A (n.686-54G>A)
c.620-54G>A (n.620-54G>A)
c.785-54G>A (n.785-54G>A)
c.839-54G>A (n.839-54G>A)
 gnomAD v4
2g.98395790G>TCA2660313248CNGA3c.674-54G>T (n.674-54G>T)
c.686-54G>T (n.686-54G>T)
c.620-54G>T (n.620-54G>T)
c.785-54G>T (n.785-54G>T)
c.839-54G>T (n.839-54G>T)
 gnomAD v4
2g.98395791G>ACA52635108CNGA3c.674-53G>A (n.674-53G>A)
c.686-53G>A (n.686-53G>A)
c.620-53G>A (n.620-53G>A)
c.785-53G>A (n.785-53G>A)
c.839-53G>A (n.839-53G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.98395791G=CA1273419624CNGA3c.674-53G= (n.674-53G=)
c.686-53G= (n.686-53G=)
c.620-53G= (n.620-53G=)
c.785-53G= (n.785-53G=)
c.839-53G= (n.839-53G=)
2g.98395793C>ACA1793859CNGA3c.674-51C>A (n.674-51C>A)
c.686-51C>A (n.686-51C>A)
c.620-51C>A (n.620-51C>A)
c.785-51C>A (n.785-51C>A)
c.839-51C>A (n.839-51C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395793C=CA1273419626CNGA3c.674-51C= (n.674-51C=)
c.686-51C= (n.686-51C=)
c.620-51C= (n.620-51C=)
c.785-51C= (n.785-51C=)
c.839-51C= (n.839-51C=)
2g.98395793C>TCA1793860CNGA3c.674-51C>T (n.674-51C>T)
c.686-51C>T (n.686-51C>T)
c.620-51C>T (n.620-51C>T)
c.785-51C>T (n.785-51C>T)
c.839-51C>T (n.839-51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395793_98395794delinsCACA1273419625CNGA3c.674-51_674-50delinsCA (n.674-51_674-50delinsCA)
c.686-51_686-50delinsCA (n.686-51_686-50delinsCA)
c.620-51_620-50delinsCA (n.620-51_620-50delinsCA)
c.785-51_785-50delinsCA (n.785-51_785-50delinsCA)
c.839-51_839-50delinsCA (n.839-51_839-50delinsCA)
2g.98395800dupCA52635116CNGA3c.674-44dup (n.674-44dup)
c.686-44dup (n.686-44dup)
c.620-44dup (n.620-44dup)
c.785-44dup (n.785-44dup)
c.839-44dup (n.839-44dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395800delCA1793858CNGA3c.674-44del (n.674-44del)
c.686-44del (n.686-44del)
c.620-44del (n.620-44del)
c.785-44del (n.785-44del)
c.839-44del (n.839-44del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395795A=CA1273419627CNGA3c.674-49A= (n.674-49A=)
c.686-49A= (n.686-49A=)
c.620-49A= (n.620-49A=)
c.785-49A= (n.785-49A=)
c.839-49A= (n.839-49A=)
2g.98395795A>GCA1793861CNGA3c.674-49A>G (n.674-49A>G)
c.686-49A>G (n.686-49A>G)
c.620-49A>G (n.620-49A>G)
c.785-49A>G (n.785-49A>G)
c.839-49A>G (n.839-49A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395796A=CA1273419628CNGA3c.674-48A= (n.674-48A=)
c.686-48A= (n.686-48A=)
c.620-48A= (n.620-48A=)
c.785-48A= (n.785-48A=)
c.839-48A= (n.839-48A=)
2g.98395796A>CCA1793862CNGA3c.674-48A>C (n.674-48A>C)
c.686-48A>C (n.686-48A>C)
c.620-48A>C (n.620-48A>C)
c.785-48A>C (n.785-48A>C)
c.839-48A>C (n.839-48A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395796A>GCA535104035CNGA3c.674-48A>G (n.674-48A>G)
c.686-48A>G (n.686-48A>G)
c.620-48A>G (n.620-48A>G)
c.785-48A>G (n.785-48A>G)
c.839-48A>G (n.839-48A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.98395797A=CA1273419629CNGA3c.674-47A= (n.674-47A=)
c.686-47A= (n.686-47A=)
c.620-47A= (n.620-47A=)
c.785-47A= (n.785-47A=)
c.839-47A= (n.839-47A=)
2g.98395797A>CCA1793863CNGA3c.674-47A>C (n.674-47A>C)
c.686-47A>C (n.686-47A>C)
c.620-47A>C (n.620-47A>C)
c.785-47A>C (n.785-47A>C)
c.839-47A>C (n.839-47A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395799A=CA1273419630CNGA3c.674-45A= (n.674-45A=)
c.686-45A= (n.686-45A=)
c.620-45A= (n.620-45A=)
c.785-45A= (n.785-45A=)
c.839-45A= (n.839-45A=)
2g.98395799A>CCA1793865CNGA3c.674-45A>C (n.674-45A>C)
c.686-45A>C (n.686-45A>C)
c.620-45A>C (n.620-45A>C)
c.785-45A>C (n.785-45A>C)
c.839-45A>C (n.839-45A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395799A>GCA1793864CNGA3c.674-45A>G (n.674-45A>G)
c.686-45A>G (n.686-45A>G)
c.620-45A>G (n.620-45A>G)
c.785-45A>G (n.785-45A>G)
c.839-45A>G (n.839-45A>G)
 dbSNP ExAC gnomAD v2
2g.98395800A=CA1273419631CNGA3c.674-44A= (n.674-44A=)
c.686-44A= (n.686-44A=)
c.620-44A= (n.620-44A=)
c.785-44A= (n.785-44A=)
c.839-44A= (n.839-44A=)
2g.98395800A>GCA1793866CNGA3c.674-44A>G (n.674-44A>G)
c.686-44A>G (n.686-44A>G)
c.620-44A>G (n.620-44A>G)
c.785-44A>G (n.785-44A>G)
c.839-44A>G (n.839-44A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395802_98395805delCA2660313249CNGA3c.674-42_674-39del (n.674-42_674-39del)
c.686-42_686-39del (n.686-42_686-39del)
c.620-42_620-39del (n.620-42_620-39del)
c.785-42_785-39del (n.785-42_785-39del)
c.839-42_839-39del (n.839-42_839-39del)
 gnomAD v4
2g.98395801delCA2660313250CNGA3c.674-43del (n.674-43del)
c.686-43del (n.686-43del)
c.620-43del (n.620-43del)
c.785-43del (n.785-43del)
c.839-43del (n.839-43del)
 gnomAD v4
2g.98395801G>ACA2577045518CNGA3c.674-43G>A (n.674-43G>A)
c.686-43G>A (n.686-43G>A)
c.620-43G>A (n.620-43G>A)
c.785-43G>A (n.785-43G>A)
c.839-43G>A (n.839-43G>A)
 gnomAD v4
2g.98395801G>TCA2660313251CNGA3c.674-43G>T (n.674-43G>T)
c.686-43G>T (n.686-43G>T)
c.620-43G>T (n.620-43G>T)
c.785-43G>T (n.785-43G>T)
c.839-43G>T (n.839-43G>T)
 gnomAD v4
2g.98395805G>ACA535104036CNGA3c.674-39G>A (n.674-39G>A)
c.686-39G>A (n.686-39G>A)
c.620-39G>A (n.620-39G>A)
c.785-39G>A (n.785-39G>A)
c.839-39G>A (n.839-39G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.98395805G>CCA2660313252CNGA3c.674-39G>C (n.674-39G>C)
c.686-39G>C (n.686-39G>C)
c.620-39G>C (n.620-39G>C)
c.785-39G>C (n.785-39G>C)
c.839-39G>C (n.839-39G>C)
 gnomAD v4
2g.98395805G=CA1273419632CNGA3c.674-39G= (n.674-39G=)
c.686-39G= (n.686-39G=)
c.620-39G= (n.620-39G=)
c.785-39G= (n.785-39G=)
c.839-39G= (n.839-39G=)
2g.98395806C>ACA2660313253CNGA3c.674-38C>A (n.674-38C>A)
c.686-38C>A (n.686-38C>A)
c.620-38C>A (n.620-38C>A)
c.785-38C>A (n.785-38C>A)
c.839-38C>A (n.839-38C>A)
 gnomAD v4
2g.98395806C=CA1273419633CNGA3c.674-38C= (n.674-38C=)
c.686-38C= (n.686-38C=)
c.620-38C= (n.620-38C=)
c.785-38C= (n.785-38C=)
c.839-38C= (n.839-38C=)
2g.98395806C>GCA535104037CNGA3c.674-38C>G (n.674-38C>G)
c.686-38C>G (n.686-38C>G)
c.620-38C>G (n.620-38C>G)
c.785-38C>G (n.785-38C>G)
c.839-38C>G (n.839-38C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395806C>TCA1793867CNGA3c.674-38C>T (n.674-38C>T)
c.686-38C>T (n.686-38C>T)
c.620-38C>T (n.620-38C>T)
c.785-38C>T (n.785-38C>T)
c.839-38C>T (n.839-38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395807C>ACA2660313254CNGA3c.674-37C>A (n.674-37C>A)
c.686-37C>A (n.686-37C>A)
c.620-37C>A (n.620-37C>A)
c.785-37C>A (n.785-37C>A)
c.839-37C>A (n.839-37C>A)
 gnomAD v4
2g.98395809C=CA1273419634CNGA3c.674-35C= (n.674-35C=)
c.686-35C= (n.686-35C=)
c.620-35C= (n.620-35C=)
c.785-35C= (n.785-35C=)
c.839-35C= (n.839-35C=)
2g.98395809C>TCA1793868CNGA3c.674-35C>T (n.674-35C>T)
c.686-35C>T (n.686-35C>T)
c.620-35C>T (n.620-35C>T)
c.785-35C>T (n.785-35C>T)
c.839-35C>T (n.839-35C>T)
 dbSNP ExAC gnomAD v2
2g.98395810T>CCA1273419636CNGA3c.674-34T>C (n.674-34T>C)
c.686-34T>C (n.686-34T>C)
c.620-34T>C (n.620-34T>C)
c.785-34T>C (n.785-34T>C)
c.839-34T>C (n.839-34T>C)
 dbSNP
2g.98395810T=CA1273419635CNGA3c.674-34T= (n.674-34T=)
c.686-34T= (n.686-34T=)
c.620-34T= (n.620-34T=)
c.785-34T= (n.785-34T=)
c.839-34T= (n.839-34T=)
2g.98395811G>ACA1793869CNGA3c.674-33G>A (n.674-33G>A)
c.686-33G>A (n.686-33G>A)
c.620-33G>A (n.620-33G>A)
c.785-33G>A (n.785-33G>A)
c.839-33G>A (n.839-33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395811G=CA1273419637CNGA3c.674-33G= (n.674-33G=)
c.686-33G= (n.686-33G=)
c.620-33G= (n.620-33G=)
c.785-33G= (n.785-33G=)
c.839-33G= (n.839-33G=)
2g.98395814A=CA1273419638CNGA3c.674-30A= (n.674-30A=)
c.686-30A= (n.686-30A=)
c.620-30A= (n.620-30A=)
c.785-30A= (n.785-30A=)
c.839-30A= (n.839-30A=)
2g.98395814A>GCA2660313255CNGA3c.674-30A>G (n.674-30A>G)
c.686-30A>G (n.686-30A>G)
c.620-30A>G (n.620-30A>G)
c.785-30A>G (n.785-30A>G)
c.839-30A>G (n.839-30A>G)
 gnomAD v4
2g.98395814A>TCA895882105CNGA3c.674-30A>T (n.674-30A>T)
c.686-30A>T (n.686-30A>T)
c.620-30A>T (n.620-30A>T)
c.785-30A>T (n.785-30A>T)
c.839-30A>T (n.839-30A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.98395815T>CCA1273419639CNGA3c.674-29T>C (n.674-29T>C)
c.686-29T>C (n.686-29T>C)
c.620-29T>C (n.620-29T>C)
c.785-29T>C (n.785-29T>C)
c.839-29T>C (n.839-29T>C)
 dbSNP
2g.98395815T=CA1273419640CNGA3c.674-29T= (n.674-29T=)
c.686-29T= (n.686-29T=)
c.620-29T= (n.620-29T=)
c.785-29T= (n.785-29T=)
c.839-29T= (n.839-29T=)
2g.98395816G>ACA895882106CNGA3c.674-28G>A (n.674-28G>A)
c.686-28G>A (n.686-28G>A)
c.620-28G>A (n.620-28G>A)
c.785-28G>A (n.785-28G>A)
c.839-28G>A (n.839-28G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.98395816G=CA1273419641CNGA3c.674-28G= (n.674-28G=)
c.686-28G= (n.686-28G=)
c.620-28G= (n.620-28G=)
c.785-28G= (n.785-28G=)
c.839-28G= (n.839-28G=)
2g.98395817C>ACA1793870CNGA3c.674-27C>A (n.674-27C>A)
c.686-27C>A (n.686-27C>A)
c.620-27C>A (n.620-27C>A)
c.785-27C>A (n.785-27C>A)
c.839-27C>A (n.839-27C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395817C=CA1273419642CNGA3c.674-27C= (n.674-27C=)
c.686-27C= (n.686-27C=)
c.620-27C= (n.620-27C=)
c.785-27C= (n.785-27C=)
c.839-27C= (n.839-27C=)
2g.98395817C>GCA535104038CNGA3c.674-27C>G (n.674-27C>G)
c.686-27C>G (n.686-27C>G)
c.620-27C>G (n.620-27C>G)
c.785-27C>G (n.785-27C>G)
c.839-27C>G (n.839-27C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.98395818C>ACA2577045519CNGA3c.674-26C>A (n.674-26C>A)
c.686-26C>A (n.686-26C>A)
c.620-26C>A (n.620-26C>A)
c.785-26C>A (n.785-26C>A)
c.839-26C>A (n.839-26C>A)
 gnomAD v4
2g.98395818C=CA1273419643CNGA3c.674-26C= (n.674-26C=)
c.686-26C= (n.686-26C=)
c.620-26C= (n.620-26C=)
c.785-26C= (n.785-26C=)
c.839-26C= (n.839-26C=)
2g.98395818C>GCA535104039CNGA3c.674-26C>G (n.674-26C>G)
c.686-26C>G (n.686-26C>G)
c.620-26C>G (n.620-26C>G)
c.785-26C>G (n.785-26C>G)
c.839-26C>G (n.839-26C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.98395818C>TCA2660313256CNGA3c.674-26C>T (n.674-26C>T)
c.686-26C>T (n.686-26C>T)
c.620-26C>T (n.620-26C>T)
c.785-26C>T (n.785-26C>T)
c.839-26C>T (n.839-26C>T)
 gnomAD v4
2g.98395819C>ACA1273419645CNGA3c.674-25C>A (n.674-25C>A)
c.686-25C>A (n.686-25C>A)
c.620-25C>A (n.620-25C>A)
c.785-25C>A (n.785-25C>A)
c.839-25C>A (n.839-25C>A)
 dbSNP gnomAD v4
2g.98395819C=CA1273419644CNGA3c.674-25C= (n.674-25C=)
c.686-25C= (n.686-25C=)
c.620-25C= (n.620-25C=)
c.785-25C= (n.785-25C=)
c.839-25C= (n.839-25C=)
2g.98395821A=CA1273419646CNGA3c.674-23A= (n.674-23A=)
c.686-23A= (n.686-23A=)
c.620-23A= (n.620-23A=)
c.785-23A= (n.785-23A=)
c.839-23A= (n.839-23A=)
2g.98395821A>GCA1793871CNGA3c.674-23A>G (n.674-23A>G)
c.686-23A>G (n.686-23A>G)
c.620-23A>G (n.620-23A>G)
c.785-23A>G (n.785-23A>G)
c.839-23A>G (n.839-23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98395823G>ACA2602486362CNGA3c.674-21G>A (n.674-21G>A)
c.686-21G>A (n.686-21G>A)
c.620-21G>A (n.620-21G>A)
c.785-21G>A (n.785-21G>A)
c.839-21G>A (n.839-21G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.98395823G>TCA2660313257CNGA3c.674-21G>T (n.674-21G>T)
c.686-21G>T (n.686-21G>T)
c.620-21G>T (n.620-21G>T)
c.785-21G>T (n.785-21G>T)
c.839-21G>T (n.839-21G>T)
 gnomAD v4
2g.98395824A=CA1273419647CNGA3c.674-20A= (n.674-20A=)
c.686-20A= (n.686-20A=)
c.620-20A= (n.620-20A=)
c.785-20A= (n.785-20A=)
c.839-20A= (n.839-20A=)
2g.98395824A>GCA1793872CNGA3c.674-20A>G (n.674-20A>G)
c.686-20A>G (n.686-20A>G)
c.620-20A>G (n.620-20A>G)
c.785-20A>G (n.785-20A>G)
c.839-20A>G (n.839-20A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395826C>ACA535104040CNGA3c.674-18C>A (n.674-18C>A)
c.686-18C>A (n.686-18C>A)
c.620-18C>A (n.620-18C>A)
c.785-18C>A (n.785-18C>A)
c.839-18C>A (n.839-18C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.98395826C=CA1273419648CNGA3c.674-18C= (n.674-18C=)
c.686-18C= (n.686-18C=)
c.620-18C= (n.620-18C=)
c.785-18C= (n.785-18C=)
c.839-18C= (n.839-18C=)
2g.98395826C>TCA2660313258CNGA3c.674-18C>T (n.674-18C>T)
c.686-18C>T (n.686-18C>T)
c.620-18C>T (n.620-18C>T)
c.785-18C>T (n.785-18C>T)
c.839-18C>T (n.839-18C>T)
 gnomAD v4
2g.98395827T>ACA2577045520CNGA3c.674-17T>A (n.674-17T>A)
c.686-17T>A (n.686-17T>A)
c.620-17T>A (n.620-17T>A)
c.785-17T>A (n.785-17T>A)
c.839-17T>A (n.839-17T>A)
2g.98395830A>CCA2660313259CNGA3c.674-14A>C (n.674-14A>C)
c.686-14A>C (n.686-14A>C)
c.620-14A>C (n.620-14A>C)
c.785-14A>C (n.785-14A>C)
c.839-14A>C (n.839-14A>C)
 gnomAD v4
2g.98395830A>GCA2660313260CNGA3c.674-14A>G (n.674-14A>G)
c.686-14A>G (n.686-14A>G)
c.620-14A>G (n.620-14A>G)
c.785-14A>G (n.785-14A>G)
c.839-14A>G (n.839-14A>G)
 gnomAD v4
2g.98395830_98395833delinsATCTCA1273419649CNGA3c.674-14_674-11delinsATCT (n.674-14_674-11delinsATCT)
c.686-14_686-11delinsATCT (n.686-14_686-11delinsATCT)
c.620-14_620-11delinsATCT (n.620-14_620-11delinsATCT)
c.785-14_785-11delinsATCT (n.785-14_785-11delinsATCT)
c.839-14_839-11delinsATCT (n.839-14_839-11delinsATCT)
2g.98395838_98395840delCA535104041CNGA3c.674-6_674-4del (n.674-6_674-4del)
c.686-6_686-4del (n.686-6_686-4del)
c.620-6_620-4del (n.620-6_620-4del)
c.785-6_785-4del (n.785-6_785-4del)
c.839-6_839-4del (n.839-6_839-4del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395832C=CA1273419650CNGA3c.674-12C= (n.674-12C=)
c.686-12C= (n.686-12C=)
c.620-12C= (n.620-12C=)
c.785-12C= (n.785-12C=)
c.839-12C= (n.839-12C=)
2g.98395832C>TCA1793873CNGA3c.674-12C>T (n.674-12C>T)
c.686-12C>T (n.686-12C>T)
c.620-12C>T (n.620-12C>T)
c.785-12C>T (n.785-12C>T)
c.839-12C>T (n.839-12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395833T>ACA1273419652CNGA3c.674-11T>A (n.674-11T>A)
c.686-11T>A (n.686-11T>A)
c.620-11T>A (n.620-11T>A)
c.785-11T>A (n.785-11T>A)
c.839-11T>A (n.839-11T>A)
 dbSNP
2g.98395833T=CA1273419651CNGA3c.674-11T= (n.674-11T=)
c.686-11T= (n.686-11T=)
c.620-11T= (n.620-11T=)
c.785-11T= (n.785-11T=)
c.839-11T= (n.839-11T=)
2g.98395834T>GCA1793874CNGA3c.674-10T>G (n.674-10T>G)
c.686-10T>G (n.686-10T>G)
c.620-10T>G (n.620-10T>G)
c.785-10T>G (n.785-10T>G)
c.839-10T>G (n.839-10T>G)
 dbSNP ExAC
2g.98395834T=CA1273419653CNGA3c.674-10T= (n.674-10T=)
c.686-10T= (n.686-10T=)
c.620-10T= (n.620-10T=)
c.785-10T= (n.785-10T=)
c.839-10T= (n.839-10T=)
2g.98395835C>TCA2660313261CNGA3c.674-9C>T (n.674-9C>T)
c.686-9C>T (n.686-9C>T)
c.620-9C>T (n.620-9C>T)
c.785-9C>T (n.785-9C>T)
c.839-9C>T (n.839-9C>T)
 gnomAD v4
2g.98395837T>GCA52635163CNGA3c.674-7T>G (n.674-7T>G)
c.686-7T>G (n.686-7T>G)
c.620-7T>G (n.620-7T>G)
c.785-7T>G (n.785-7T>G)
c.839-7T>G (n.839-7T>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.98395837T=CA1273419654CNGA3c.674-7T= (n.674-7T=)
c.686-7T= (n.686-7T=)
c.620-7T= (n.620-7T=)
c.785-7T= (n.785-7T=)
c.839-7T= (n.839-7T=)
2g.98395838C>TCA2660313262CNGA3c.674-6C>T (n.674-6C>T)
c.686-6C>T (n.686-6C>T)
c.620-6C>T (n.620-6C>T)
c.785-6C>T (n.785-6C>T)
c.839-6C>T (n.839-6C>T)
 gnomAD v4
2g.98395839T>CCA2660313263CNGA3c.674-5T>C (n.674-5T>C)
c.686-5T>C (n.686-5T>C)
c.620-5T>C (n.620-5T>C)
c.785-5T>C (n.785-5T>C)
c.839-5T>C (n.839-5T>C)
 gnomAD v4
2g.98395841T>CCA1793875CNGA3c.674-3T>C (n.674-3T>C)
c.686-3T>C (n.686-3T>C)
c.620-3T>C (n.620-3T>C)
c.785-3T>C (n.785-3T>C)
c.839-3T>C (n.839-3T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395841T=CA1273419655CNGA3c.674-3T= (n.674-3T=)
c.686-3T= (n.686-3T=)
c.620-3T= (n.620-3T=)
c.785-3T= (n.785-3T=)
c.839-3T= (n.839-3T=)
2g.98395842A>CCA347831894CNGA3c.674-2A>C (n.674-2A>C)
c.686-2A>C (n.686-2A>C)
c.620-2A>C (n.620-2A>C)
c.785-2A>C (n.785-2A>C)
c.839-2A>C (n.839-2A>C)
2g.98395842A>GCA347831893CNGA3c.674-2A>G (n.674-2A>G)
c.686-2A>G (n.686-2A>G)
c.620-2A>G (n.620-2A>G)
c.785-2A>G (n.785-2A>G)
c.839-2A>G (n.839-2A>G)
2g.98395842A>TCA347831892CNGA3c.674-2A>T (n.674-2A>T)
c.686-2A>T (n.686-2A>T)
c.620-2A>T (n.620-2A>T)
c.785-2A>T (n.785-2A>T)
c.839-2A>T (n.839-2A>T)
2g.98395843G>ACA347831895CNGA3c.674-1G>A (n.674-1G>A)
c.686-1G>A (n.686-1G>A)
c.620-1G>A (n.620-1G>A)
c.785-1G>A (n.785-1G>A)
c.839-1G>A (n.839-1G>A)
 ClinVar dbSNP gnomAD v4
2g.98395843G>CCA52635169CNGA3c.674-1G>C (n.674-1G>C)
c.686-1G>C (n.686-1G>C)
c.620-1G>C (n.620-1G>C)
c.785-1G>C (n.785-1G>C)
c.839-1G>C (n.839-1G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98395843G=CA1273419656CNGA3c.674-1G= (n.674-1G=)
c.686-1G= (n.686-1G=)
c.620-1G= (n.620-1G=)
c.785-1G= (n.785-1G=)
c.839-1G= (n.839-1G=)
2g.98395843G>TCA347831896CNGA3c.674-1G>T (n.674-1G>T)
c.686-1G>T (n.686-1G>T)
c.620-1G>T (n.620-1G>T)
c.785-1G>T (n.785-1G>T)
c.839-1G>T (n.839-1G>T)
2g.98395844G>ACA347831897CNGA3c.674G>A (p.Gly225Asp)
c.686G>A (p.Gly229Asp)
c.620G>A (p.Gly207Asp)
c.785G>A (p.Gly262Asp)
c.839G>A (p.Gly280Asp)
2g.98395844G>CCA347831898CNGA3c.674G>C (p.Gly225Ala)
c.686G>C (p.Gly229Ala)
c.620G>C (p.Gly207Ala)
c.785G>C (p.Gly262Ala)
c.839G>C (p.Gly280Ala)
2g.98395844G>TCA347831899CNGA3c.674G>T (p.Gly225Val)
c.686G>T (p.Gly229Val)
c.620G>T (p.Gly207Val)
c.785G>T (p.Gly262Val)
c.839G>T (p.Gly280Val)
2g.98395845T>ACA427567936CNGA3c.675T>A (p.Gly225=)
c.687T>A (p.Gly229=)
c.621T>A (p.Gly207=)
c.786T>A (p.Gly262=)
c.840T>A (p.Gly280=)
 dbSNP
2g.98395845T>CCA427567946CNGA3c.675T>C (p.Gly225=)
c.687T>C (p.Gly229=)
c.621T>C (p.Gly207=)
c.786T>C (p.Gly262=)
c.840T>C (p.Gly280=)
2g.98395845T>GCA427567938CNGA3c.675T>G (p.Gly225=)
c.687T>G (p.Gly229=)
c.621T>G (p.Gly207=)
c.786T>G (p.Gly262=)
c.840T>G (p.Gly280=)
2g.98395845T=CA1273419657CNGA3c.675T= (p.Gly225=)
c.687T= (p.Gly229=)
c.621T= (p.Gly207=)
c.786T= (p.Gly262=)
c.840T= (p.Gly280=)
2g.98395846T>ACA347831900CNGA3c.676T>A (p.Phe226Ile)
c.688T>A (p.Phe230Ile)
c.622T>A (p.Phe208Ile)
c.787T>A (p.Phe263Ile)
c.841T>A (p.Phe281Ile)
2g.98395846T>CCA347831902CNGA3c.676T>C (p.Phe226Leu)
c.688T>C (p.Phe230Leu)
c.622T>C (p.Phe208Leu)
c.787T>C (p.Phe263Leu)
c.841T>C (p.Phe281Leu)
2g.98395846T>GCA347831901CNGA3c.676T>G (p.Phe226Val)
c.688T>G (p.Phe230Val)
c.622T>G (p.Phe208Val)
c.787T>G (p.Phe263Val)
c.841T>G (p.Phe281Val)
2g.98395847T>ACA347831903CNGA3c.677T>A (p.Phe226Tyr)
c.689T>A (p.Phe230Tyr)
c.623T>A (p.Phe208Tyr)
c.788T>A (p.Phe263Tyr)
c.842T>A (p.Phe281Tyr)
2g.98395847T>CCA347831904CNGA3c.677T>C (p.Phe226Ser)
c.689T>C (p.Phe230Ser)
c.623T>C (p.Phe208Ser)
c.788T>C (p.Phe263Ser)
c.842T>C (p.Phe281Ser)
2g.98395847T>GCA347831905CNGA3c.677T>G (p.Phe226Cys)
c.689T>G (p.Phe230Cys)
c.623T>G (p.Phe208Cys)
c.788T>G (p.Phe263Cys)
c.842T>G (p.Phe281Cys)
2g.98395848T>ACA347831906CNGA3c.678T>A (p.Phe226Leu)
c.690T>A (p.Phe230Leu)
c.624T>A (p.Phe208Leu)
c.789T>A (p.Phe263Leu)
c.843T>A (p.Phe281Leu)
2g.98395848T>CCA427567956CNGA3c.678T>C (p.Phe226=)
c.690T>C (p.Phe230=)
c.624T>C (p.Phe208=)
c.789T>C (p.Phe263=)
c.843T>C (p.Phe281=)
 gnomAD v4
2g.98395848T>GCA347831907CNGA3c.678T>G (p.Phe226Leu)
c.690T>G (p.Phe230Leu)
c.624T>G (p.Phe208Leu)
c.789T>G (p.Phe263Leu)
c.843T>G (p.Phe281Leu)
2g.98395849C>ACA347831908CNGA3c.679C>A (p.Leu227Ile)
c.691C>A (p.Leu231Ile)
c.625C>A (p.Leu209Ile)
c.790C>A (p.Leu264Ile)
c.844C>A (p.Leu282Ile)
2g.98395849C>GCA347831909CNGA3c.679C>G (p.Leu227Val)
c.691C>G (p.Leu231Val)
c.625C>G (p.Leu209Val)
c.790C>G (p.Leu264Val)
c.844C>G (p.Leu282Val)
2g.98395849C>TCA347831910CNGA3c.679C>T (p.Leu227Phe)
c.691C>T (p.Leu231Phe)
c.625C>T (p.Leu209Phe)
c.790C>T (p.Leu264Phe)
c.844C>T (p.Leu282Phe)
2g.98395850T>ACA347831911CNGA3c.680T>A (p.Leu227His)
c.692T>A (p.Leu231His)
c.626T>A (p.Leu209His)
c.791T>A (p.Leu264His)
c.845T>A (p.Leu282His)
2g.98395850T>CCA347831912CNGA3c.680T>C (p.Leu227Pro)
c.692T>C (p.Leu231Pro)
c.626T>C (p.Leu209Pro)
c.791T>C (p.Leu264Pro)
c.845T>C (p.Leu282Pro)
2g.98395850T>GCA347831913CNGA3c.680T>G (p.Leu227Arg)
c.692T>G (p.Leu231Arg)
c.626T>G (p.Leu209Arg)
c.791T>G (p.Leu264Arg)
c.845T>G (p.Leu282Arg)
 gnomAD v4
2g.98395851C>ACA427567965CNGA3c.681C>A (p.Leu227=)
c.693C>A (p.Leu231=)
c.627C>A (p.Leu209=)
c.792C>A (p.Leu264=)
c.846C>A (p.Leu282=)
 gnomAD v4
2g.98395851C=CA1273419658CNGA3c.681C= (p.Leu227=)
c.693C= (p.Leu231=)
c.627C= (p.Leu209=)
c.792C= (p.Leu264=)
c.846C= (p.Leu282=)
2g.98395851C>GCA427567967CNGA3c.681C>G (p.Leu227=)
c.693C>G (p.Leu231=)
c.627C>G (p.Leu209=)
c.792C>G (p.Leu264=)
c.846C>G (p.Leu282=)
2g.98395851C>TCA427567969CNGA3c.681C>T (p.Leu227=)
c.693C>T (p.Leu231=)
c.627C>T (p.Leu209=)
c.792C>T (p.Leu264=)
c.846C>T (p.Leu282=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395852G>ACA1793876CNGA3c.682G>A (p.Glu228Lys)
c.694G>A (p.Glu232Lys)
c.628G>A (p.Glu210Lys)
c.793G>A (p.Glu265Lys)
c.847G>A (p.Glu283Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395852G>CCA347831914CNGA3c.682G>C (p.Glu228Gln)
c.694G>C (p.Glu232Gln)
c.628G>C (p.Glu210Gln)
c.793G>C (p.Glu265Gln)
c.847G>C (p.Glu283Gln)
2g.98395852G=CA1273419659CNGA3c.682G= (p.Glu228=)
c.694G= (p.Glu232=)
c.628G= (p.Glu210=)
c.793G= (p.Glu265=)
c.847G= (p.Glu283=)
2g.98395852G>TCA347831915CNGA3c.682G>T (p.Glu228Ter)
c.694G>T (p.Glu232Ter)
c.628G>T (p.Glu210Ter)
c.793G>T (p.Glu265Ter)
c.847G>T (p.Glu283Ter)
 gnomAD v4 COSMIC
2g.98395853A>CCA347831916CNGA3c.683A>C (p.Glu228Ala)
c.695A>C (p.Glu232Ala)
c.629A>C (p.Glu210Ala)
c.794A>C (p.Glu265Ala)
c.848A>C (p.Glu283Ala)
2g.98395853A>GCA347831917CNGA3c.683A>G (p.Glu228Gly)
c.695A>G (p.Glu232Gly)
c.629A>G (p.Glu210Gly)
c.794A>G (p.Glu265Gly)
c.848A>G (p.Glu283Gly)
2g.98395853A>TCA347831918CNGA3c.683A>T (p.Glu228Val)
c.695A>T (p.Glu232Val)
c.629A>T (p.Glu210Val)
c.794A>T (p.Glu265Val)
c.848A>T (p.Glu283Val)
2g.98395854G>ACA427567981CNGA3c.684G>A (p.Glu228=)
c.696G>A (p.Glu232=)
c.630G>A (p.Glu210=)
c.795G>A (p.Glu265=)
c.849G>A (p.Glu283=)
 dbSNP gnomAD v2 gnomAD v4
2g.98395854G>CCA347831919CNGA3c.684G>C (p.Glu228Asp)
c.696G>C (p.Glu232Asp)
c.630G>C (p.Glu210Asp)
c.795G>C (p.Glu265Asp)
c.849G>C (p.Glu283Asp)
2g.98395854G=CA1273419660CNGA3c.684G= (p.Glu228=)
c.696G= (p.Glu232=)
c.630G= (p.Glu210=)
c.795G= (p.Glu265=)
c.849G= (p.Glu283=)
2g.98395854G>TCA347831920CNGA3c.684G>T (p.Glu228Asp)
c.696G>T (p.Glu232Asp)
c.630G>T (p.Glu210Asp)
c.795G>T (p.Glu265Asp)
c.849G>T (p.Glu283Asp)
2g.98395855C>ACA347831921CNGA3c.685C>A (p.Gln229Lys)
c.697C>A (p.Gln233Lys)
c.631C>A (p.Gln211Lys)
c.796C>A (p.Gln266Lys)
c.850C>A (p.Gln284Lys)
2g.98395855C>GCA347831922CNGA3c.685C>G (p.Gln229Glu)
c.697C>G (p.Gln233Glu)
c.631C>G (p.Gln211Glu)
c.796C>G (p.Gln266Glu)
c.850C>G (p.Gln284Glu)
2g.98395855C>TCA347831923CNGA3c.685C>T (p.Gln229Ter)
c.697C>T (p.Gln233Ter)
c.631C>T (p.Gln211Ter)
c.796C>T (p.Gln266Ter)
c.850C>T (p.Gln284Ter)
2g.98395856A=CA1273419661CNGA3c.686A= (p.Gln229=)
c.698A= (p.Gln233=)
c.632A= (p.Gln211=)
c.797A= (p.Gln266=)
c.851A= (p.Gln284=)
2g.98395856A>CCA347831924CNGA3c.686A>C (p.Gln229Pro)
c.698A>C (p.Gln233Pro)
c.632A>C (p.Gln211Pro)
c.797A>C (p.Gln266Pro)
c.851A>C (p.Gln284Pro)
2g.98395856A>GCA1793877CNGA3c.686A>G (p.Gln229Arg)
c.698A>G (p.Gln233Arg)
c.632A>G (p.Gln211Arg)
c.797A>G (p.Gln266Arg)
c.851A>G (p.Gln284Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395856A>TCA347831925CNGA3c.686A>T (p.Gln229Leu)
c.698A>T (p.Gln233Leu)
c.632A>T (p.Gln211Leu)
c.797A>T (p.Gln266Leu)
c.851A>T (p.Gln284Leu)
2g.98395857A>CCA347831926CNGA3c.687A>C (p.Gln229His)
c.699A>C (p.Gln233His)
c.633A>C (p.Gln211His)
c.798A>C (p.Gln266His)
c.852A>C (p.Gln284His)
2g.98395857A>GCA427567997CNGA3c.687A>G (p.Gln229=)
c.699A>G (p.Gln233=)
c.633A>G (p.Gln211=)
c.798A>G (p.Gln266=)
c.852A>G (p.Gln284=)
 gnomAD v4
2g.98395857A>TCA347831927CNGA3c.687A>T (p.Gln229His)
c.699A>T (p.Gln233His)
c.633A>T (p.Gln211His)
c.798A>T (p.Gln266His)
c.852A>T (p.Gln284His)
2g.98395858G>ACA347831928CNGA3c.688G>A (p.Gly230Ser)
c.700G>A (p.Gly234Ser)
c.634G>A (p.Gly212Ser)
c.799G>A (p.Gly267Ser)
c.853G>A (p.Gly285Ser)
2g.98395858G>CCA347831929CNGA3c.688G>C (p.Gly230Arg)
c.700G>C (p.Gly234Arg)
c.634G>C (p.Gly212Arg)
c.799G>C (p.Gly267Arg)
c.853G>C (p.Gly285Arg)
2g.98395858G>TCA347831930CNGA3c.688G>T (p.Gly230Cys)
c.700G>T (p.Gly234Cys)
c.634G>T (p.Gly212Cys)
c.799G>T (p.Gly267Cys)
c.853G>T (p.Gly285Cys)
2g.98395859G>ACA1793878CNGA3c.689G>A (p.Gly230Asp)
c.701G>A (p.Gly234Asp)
c.635G>A (p.Gly212Asp)
c.800G>A (p.Gly267Asp)
c.854G>A (p.Gly285Asp)
 dbSNP ExAC gnomAD v2
2g.98395859G>CCA347831932CNGA3c.689G>C (p.Gly230Ala)
c.701G>C (p.Gly234Ala)
c.635G>C (p.Gly212Ala)
c.800G>C (p.Gly267Ala)
c.854G>C (p.Gly285Ala)
2g.98395859G=CA1273419662CNGA3c.689G= (p.Gly230=)
c.701G= (p.Gly234=)
c.635G= (p.Gly212=)
c.800G= (p.Gly267=)
c.854G= (p.Gly285=)
2g.98395859G>TCA347831931CNGA3c.689G>T (p.Gly230Val)
c.701G>T (p.Gly234Val)
c.635G>T (p.Gly212Val)
c.800G>T (p.Gly267Val)
c.854G>T (p.Gly285Val)
2g.98395860C>ACA427568007CNGA3c.690C>A (p.Gly230=)
c.702C>A (p.Gly234=)
c.636C>A (p.Gly212=)
c.801C>A (p.Gly267=)
c.855C>A (p.Gly285=)
2g.98395860C>GCA427568009CNGA3c.690C>G (p.Gly230=)
c.702C>G (p.Gly234=)
c.636C>G (p.Gly212=)
c.801C>G (p.Gly267=)
c.855C>G (p.Gly285=)
2g.98395860C>TCA427568012CNGA3c.690C>T (p.Gly230=)
c.702C>T (p.Gly234=)
c.636C>T (p.Gly212=)
c.801C>T (p.Gly267=)
c.855C>T (p.Gly285=)
2g.98395861T>ACA347831933CNGA3c.691T>A (p.Leu231Ile)
c.703T>A (p.Leu235Ile)
c.637T>A (p.Leu213Ile)
c.802T>A (p.Leu268Ile)
c.856T>A (p.Leu286Ile)
2g.98395861T>CCA427568016CNGA3c.691T>C (p.Leu231=)
c.703T>C (p.Leu235=)
c.637T>C (p.Leu213=)
c.802T>C (p.Leu268=)
c.856T>C (p.Leu286=)
2g.98395861T>GCA347831934CNGA3c.691T>G (p.Leu231Val)
c.703T>G (p.Leu235Val)
c.637T>G (p.Leu213Val)
c.802T>G (p.Leu268Val)
c.856T>G (p.Leu286Val)
2g.98395862T>ACA347831935CNGA3c.692T>A (p.Leu231Ter)
c.704T>A (p.Leu235Ter)
c.638T>A (p.Leu213Ter)
c.803T>A (p.Leu268Ter)
c.857T>A (p.Leu286Ter)
2g.98395862T>CCA347831936CNGA3c.692T>C (p.Leu231Ser)
c.704T>C (p.Leu235Ser)
c.638T>C (p.Leu213Ser)
c.803T>C (p.Leu268Ser)
c.857T>C (p.Leu286Ser)
2g.98395862T>GCA347831937CNGA3c.692T>G (p.Leu231Ter)
c.704T>G (p.Leu235Ter)
c.638T>G (p.Leu213Ter)
c.803T>G (p.Leu268Ter)
c.857T>G (p.Leu286Ter)
2g.98395863A>CCA347831938CNGA3c.693A>C (p.Leu231Phe)
c.705A>C (p.Leu235Phe)
c.639A>C (p.Leu213Phe)
c.804A>C (p.Leu268Phe)
c.858A>C (p.Leu286Phe)
2g.98395863A>GCA427568022CNGA3c.693A>G (p.Leu231=)
c.705A>G (p.Leu235=)
c.639A>G (p.Leu213=)
c.804A>G (p.Leu268=)
c.858A>G (p.Leu286=)
2g.98395863A>TCA347831939CNGA3c.693A>T (p.Leu231Phe)
c.705A>T (p.Leu235Phe)
c.639A>T (p.Leu213Phe)
c.804A>T (p.Leu268Phe)
c.858A>T (p.Leu286Phe)
2g.98395864A>CCA347831940CNGA3c.694A>C (p.Met232Leu)
c.706A>C (p.Met236Leu)
c.640A>C (p.Met214Leu)
c.805A>C (p.Met269Leu)
c.859A>C (p.Met287Leu)
2g.98395864A>GCA347831941CNGA3c.694A>G (p.Met232Val)
c.706A>G (p.Met236Val)
c.640A>G (p.Met214Val)
c.805A>G (p.Met269Val)
c.859A>G (p.Met287Val)
2g.98395864A>TCA347831942CNGA3c.694A>T (p.Met232Leu)
c.706A>T (p.Met236Leu)
c.640A>T (p.Met214Leu)
c.805A>T (p.Met269Leu)
c.859A>T (p.Met287Leu)
2g.98395865T>ACA347831943CNGA3c.695T>A (p.Met232Lys)
c.707T>A (p.Met236Lys)
c.641T>A (p.Met214Lys)
c.806T>A (p.Met269Lys)
c.860T>A (p.Met287Lys)
2g.98395865T>CCA347831944CNGA3c.695T>C (p.Met232Thr)
c.707T>C (p.Met236Thr)
c.641T>C (p.Met214Thr)
c.806T>C (p.Met269Thr)
c.860T>C (p.Met287Thr)
 COSMIC
2g.98395865T>GCA347831945CNGA3c.695T>G (p.Met232Arg)
c.707T>G (p.Met236Arg)
c.641T>G (p.Met214Arg)
c.806T>G (p.Met269Arg)
c.860T>G (p.Met287Arg)
2g.98395866G>ACA52635177CNGA3c.696G>A (p.Met232Ile)
c.708G>A (p.Met236Ile)
c.642G>A (p.Met214Ile)
c.807G>A (p.Met269Ile)
c.861G>A (p.Met287Ile)
 dbSNP
2g.98395866G>CCA347831947CNGA3c.696G>C (p.Met232Ile)
c.708G>C (p.Met236Ile)
c.642G>C (p.Met214Ile)
c.807G>C (p.Met269Ile)
c.861G>C (p.Met287Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395866G=CA1273419663CNGA3c.696G= (p.Met232=)
c.708G= (p.Met236=)
c.642G= (p.Met214=)
c.807G= (p.Met269=)
c.861G= (p.Met287=)
2g.98395866G>TCA347831946CNGA3c.696G>T (p.Met232Ile)
c.708G>T (p.Met236Ile)
c.642G>T (p.Met214Ile)
c.807G>T (p.Met269Ile)
c.861G>T (p.Met287Ile)
2g.98395867G>ACA347831948CNGA3c.697G>A (p.Val233Ile)
c.709G>A (p.Val237Ile)
c.643G>A (p.Val215Ile)
c.808G>A (p.Val270Ile)
c.862G>A (p.Val288Ile)
2g.98395867G>CCA347831949CNGA3c.697G>C (p.Val233Leu)
c.709G>C (p.Val237Leu)
c.643G>C (p.Val215Leu)
c.808G>C (p.Val270Leu)
c.862G>C (p.Val288Leu)
2g.98395867G>TCA347831950CNGA3c.697G>T (p.Val233Phe)
c.709G>T (p.Val237Phe)
c.643G>T (p.Val215Phe)
c.808G>T (p.Val270Phe)
c.862G>T (p.Val288Phe)
2g.98395868T>ACA347831951CNGA3c.698T>A (p.Val233Asp)
c.710T>A (p.Val237Asp)
c.644T>A (p.Val215Asp)
c.809T>A (p.Val270Asp)
c.863T>A (p.Val288Asp)
2g.98395868T>CCA347831952CNGA3c.698T>C (p.Val233Ala)
c.710T>C (p.Val237Ala)
c.644T>C (p.Val215Ala)
c.809T>C (p.Val270Ala)
c.863T>C (p.Val288Ala)
2g.98395868T>GCA347831953CNGA3c.698T>G (p.Val233Gly)
c.710T>G (p.Val237Gly)
c.644T>G (p.Val215Gly)
c.809T>G (p.Val270Gly)
c.863T>G (p.Val288Gly)
2g.98395869C>ACA427568043CNGA3c.699C>A (p.Val233=)
c.711C>A (p.Val237=)
c.645C>A (p.Val215=)
c.810C>A (p.Val270=)
c.864C>A (p.Val288=)
 gnomAD v4
2g.98395869C>GCA427568045CNGA3c.699C>G (p.Val233=)
c.711C>G (p.Val237=)
c.645C>G (p.Val215=)
c.810C>G (p.Val270=)
c.864C>G (p.Val288=)
2g.98395869C>TCA427568047CNGA3c.699C>T (p.Val233=)
c.711C>T (p.Val237=)
c.645C>T (p.Val215=)
c.810C>T (p.Val270=)
c.864C>T (p.Val288=)
 gnomAD v4
2g.98395870A>CCA347831956CNGA3c.700A>C (p.Ser234Arg)
c.712A>C (p.Ser238Arg)
c.646A>C (p.Ser216Arg)
c.811A>C (p.Ser271Arg)
c.865A>C (p.Ser289Arg)
2g.98395870A>GCA347831954CNGA3c.700A>G (p.Ser234Gly)
c.712A>G (p.Ser238Gly)
c.646A>G (p.Ser216Gly)
c.811A>G (p.Ser271Gly)
c.865A>G (p.Ser289Gly)
 gnomAD v4
2g.98395870A>TCA347831955CNGA3c.700A>T (p.Ser234Cys)
c.712A>T (p.Ser238Cys)
c.646A>T (p.Ser216Cys)
c.811A>T (p.Ser271Cys)
c.865A>T (p.Ser289Cys)
2g.98395871G>ACA347831957CNGA3c.701G>A (p.Ser234Asn)
c.713G>A (p.Ser238Asn)
c.647G>A (p.Ser216Asn)
c.812G>A (p.Ser271Asn)
c.866G>A (p.Ser289Asn)
 gnomAD v4
2g.98395871G>CCA347831958CNGA3c.701G>C (p.Ser234Thr)
c.713G>C (p.Ser238Thr)
c.647G>C (p.Ser216Thr)
c.812G>C (p.Ser271Thr)
c.866G>C (p.Ser289Thr)
2g.98395871G>TCA347831959CNGA3c.701G>T (p.Ser234Ile)
c.713G>T (p.Ser238Ile)
c.647G>T (p.Ser216Ile)
c.812G>T (p.Ser271Ile)
c.866G>T (p.Ser289Ile)
2g.98395872T>ACA347831960CNGA3c.702T>A (p.Ser234Arg)
c.714T>A (p.Ser238Arg)
c.648T>A (p.Ser216Arg)
c.813T>A (p.Ser271Arg)
c.867T>A (p.Ser289Arg)
2g.98395872T>CCA427568059CNGA3c.702T>C (p.Ser234=)
c.714T>C (p.Ser238=)
c.648T>C (p.Ser216=)
c.813T>C (p.Ser271=)
c.867T>C (p.Ser289=)
 ClinVar
2g.98395872T>GCA347831961CNGA3c.702T>G (p.Ser234Arg)
c.714T>G (p.Ser238Arg)
c.648T>G (p.Ser216Arg)
c.813T>G (p.Ser271Arg)
c.867T>G (p.Ser289Arg)
2g.98395873G>ACA347831962CNGA3c.703G>A (p.Asp235Asn)
c.715G>A (p.Asp239Asn)
c.649G>A (p.Asp217Asn)
c.814G>A (p.Asp272Asn)
c.868G>A (p.Asp290Asn)
2g.98395873G>CCA347831964CNGA3c.703G>C (p.Asp235His)
c.715G>C (p.Asp239His)
c.649G>C (p.Asp217His)
c.814G>C (p.Asp272His)
c.868G>C (p.Asp290His)
2g.98395873G>TCA347831963CNGA3c.703G>T (p.Asp235Tyr)
c.715G>T (p.Asp239Tyr)
c.649G>T (p.Asp217Tyr)
c.814G>T (p.Asp272Tyr)
c.868G>T (p.Asp290Tyr)
2g.98395874A=CA1273419664CNGA3c.704A= (p.Asp235=)
c.716A= (p.Asp239=)
c.650A= (p.Asp217=)
c.815A= (p.Asp272=)
c.869A= (p.Asp290=)
2g.98395874A>CCA347831965CNGA3c.704A>C (p.Asp235Ala)
c.716A>C (p.Asp239Ala)
c.650A>C (p.Asp217Ala)
c.815A>C (p.Asp272Ala)
c.869A>C (p.Asp290Ala)
2g.98395874A>GCA347831966CNGA3c.704A>G (p.Asp235Gly)
c.716A>G (p.Asp239Gly)
c.650A>G (p.Asp217Gly)
c.815A>G (p.Asp272Gly)
c.869A>G (p.Asp290Gly)
2g.98395874A>TCA347831967CNGA3c.704A>T (p.Asp235Val)
c.716A>T (p.Asp239Val)
c.650A>T (p.Asp217Val)
c.815A>T (p.Asp272Val)
c.869A>T (p.Asp290Val)
 ClinVar dbSNP
2g.98395875_98395876dupCA2580068350CNGA3c.705_706dup (p.Thr236IlefsTer30)
c.717_718dup (p.Thr240IlefsTer30)
c.651_652dup (p.Thr218IlefsTer30)
c.816_817dup (p.Thr273IlefsTer30)
c.870_871dup (p.Thr291IlefsTer30)
 ClinVar
2g.98395875T>ACA347831968CNGA3c.705T>A (p.Asp235Glu)
c.717T>A (p.Asp239Glu)
c.651T>A (p.Asp217Glu)
c.816T>A (p.Asp272Glu)
c.870T>A (p.Asp290Glu)
2g.98395875T>CCA427568072CNGA3c.705T>C (p.Asp235=)
c.717T>C (p.Asp239=)
c.651T>C (p.Asp217=)
c.816T>C (p.Asp272=)
c.870T>C (p.Asp290=)
 gnomAD v4
2g.98395875T>GCA347831969CNGA3c.705T>G (p.Asp235Glu)
c.717T>G (p.Asp239Glu)
c.651T>G (p.Asp217Glu)
c.816T>G (p.Asp272Glu)
c.870T>G (p.Asp290Glu)
2g.98395876A>CCA347831970CNGA3c.706A>C (p.Thr236Pro)
c.718A>C (p.Thr240Pro)
c.652A>C (p.Thr218Pro)
c.817A>C (p.Thr273Pro)
c.871A>C (p.Thr291Pro)
2g.98395876A>GCA347831971CNGA3c.706A>G (p.Thr236Ala)
c.718A>G (p.Thr240Ala)
c.652A>G (p.Thr218Ala)
c.817A>G (p.Thr273Ala)
c.871A>G (p.Thr291Ala)
 gnomAD v4
2g.98395876A>TCA347831972CNGA3c.706A>T (p.Thr236Ser)
c.718A>T (p.Thr240Ser)
c.652A>T (p.Thr218Ser)
c.817A>T (p.Thr273Ser)
c.871A>T (p.Thr291Ser)
2g.98395877C>ACA347831973CNGA3c.707C>A (p.Thr236Asn)
c.719C>A (p.Thr240Asn)
c.653C>A (p.Thr218Asn)
c.818C>A (p.Thr273Asn)
c.872C>A (p.Thr291Asn)
 gnomAD v4
2g.98395877C>GCA347831974CNGA3c.707C>G (p.Thr236Ser)
c.719C>G (p.Thr240Ser)
c.653C>G (p.Thr218Ser)
c.818C>G (p.Thr273Ser)
c.872C>G (p.Thr291Ser)
2g.98395877C>TCA347831975CNGA3c.707C>T (p.Thr236Ile)
c.719C>T (p.Thr240Ile)
c.653C>T (p.Thr218Ile)
c.818C>T (p.Thr273Ile)
c.872C>T (p.Thr291Ile)
2g.98395878C>ACA427568084CNGA3c.708C>A (p.Thr236=)
c.720C>A (p.Thr240=)
c.654C>A (p.Thr218=)
c.819C>A (p.Thr273=)
c.873C>A (p.Thr291=)
2g.98395878C>GCA427568085CNGA3c.708C>G (p.Thr236=)
c.720C>G (p.Thr240=)
c.654C>G (p.Thr218=)
c.819C>G (p.Thr273=)
c.873C>G (p.Thr291=)
 gnomAD v4
2g.98395878C>TCA427568087CNGA3c.708C>T (p.Thr236=)
c.720C>T (p.Thr240=)
c.654C>T (p.Thr218=)
c.819C>T (p.Thr273=)
c.873C>T (p.Thr291=)
 gnomAD v4
2g.98395879A>CCA347831978CNGA3c.709A>C (p.Asn237His)
c.721A>C (p.Asn241His)
c.655A>C (p.Asn219His)
c.820A>C (p.Asn274His)
c.874A>C (p.Asn292His)
2g.98395879A>GCA347831976CNGA3c.709A>G (p.Asn237Asp)
c.721A>G (p.Asn241Asp)
c.655A>G (p.Asn219Asp)
c.820A>G (p.Asn274Asp)
c.874A>G (p.Asn292Asp)
2g.98395879A>TCA347831977CNGA3c.709A>T (p.Asn237Tyr)
c.721A>T (p.Asn241Tyr)
c.655A>T (p.Asn219Tyr)
c.820A>T (p.Asn274Tyr)
c.874A>T (p.Asn292Tyr)
2g.98395880A>CCA347831979CNGA3c.710A>C (p.Asn237Thr)
c.722A>C (p.Asn241Thr)
c.656A>C (p.Asn219Thr)
c.821A>C (p.Asn274Thr)
c.875A>C (p.Asn292Thr)
2g.98395880A>GCA347831980CNGA3c.710A>G (p.Asn237Ser)
c.722A>G (p.Asn241Ser)
c.656A>G (p.Asn219Ser)
c.821A>G (p.Asn274Ser)
c.875A>G (p.Asn292Ser)
 gnomAD v4
2g.98395880A>TCA347831981CNGA3c.710A>T (p.Asn237Ile)
c.722A>T (p.Asn241Ile)
c.656A>T (p.Asn219Ile)
c.821A>T (p.Asn274Ile)
c.875A>T (p.Asn292Ile)
2g.98395881C>ACA347831982CNGA3c.711C>A (p.Asn237Lys)
c.723C>A (p.Asn241Lys)
c.657C>A (p.Asn219Lys)
c.822C>A (p.Asn274Lys)
c.876C>A (p.Asn292Lys)
2g.98395881C=CA1273419665CNGA3c.711C= (p.Asn237=)
c.723C= (p.Asn241=)
c.657C= (p.Asn219=)
c.822C= (p.Asn274=)
c.876C= (p.Asn292=)
2g.98395881C>GCA347831983CNGA3c.711C>G (p.Asn237Lys)
c.723C>G (p.Asn241Lys)
c.657C>G (p.Asn219Lys)
c.822C>G (p.Asn274Lys)
c.876C>G (p.Asn292Lys)
2g.98395881C>TCA1793879CNGA3c.711C>T (p.Asn237=)
c.723C>T (p.Asn241=)
c.657C>T (p.Asn219=)
c.822C>T (p.Asn274=)
c.876C>T (p.Asn292=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395882A>CCA427568096CNGA3c.712A>C (p.Arg238=)
c.724A>C (p.Arg242=)
c.658A>C (p.Arg220=)
c.823A>C (p.Arg275=)
c.877A>C (p.Arg293=)
2g.98395882A>GCA347831984CNGA3c.712A>G (p.Arg238Gly)
c.724A>G (p.Arg242Gly)
c.658A>G (p.Arg220Gly)
c.823A>G (p.Arg275Gly)
c.877A>G (p.Arg293Gly)
2g.98395882A>TCA347831985CNGA3c.712A>T (p.Arg238Trp)
c.724A>T (p.Arg242Trp)
c.658A>T (p.Arg220Trp)
c.823A>T (p.Arg275Trp)
c.877A>T (p.Arg293Trp)

Number of alleles fetched