Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.124749321C= | CA1942505671 | EEF1AKMT2 | c.628+11065G= c.187-835G= | |
10 | g.124749321C>T | CA1942505672 | EEF1AKMT2 | c.628+11065G>A c.187-835G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749326A= | CA1942505673 | EEF1AKMT2 | c.628+11060T= c.187-840T= | |
10 | g.124749326A>G | CA661147965 | EEF1AKMT2 | c.628+11060T>C c.187-840T>C | dbSNP |
10 | g.124749326A>T | CA215622192 | EEF1AKMT2 | c.628+11060T>A c.187-840T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749327_124749328del | CA2563758245 | EEF1AKMT2 | c.628+11058_628+11059del c.187-842_187-841del | |
10 | g.124749329C= | CA1942505674 | EEF1AKMT2 | c.628+11057G= c.187-843G= | |
10 | g.124749329C>T | CA661147966 | EEF1AKMT2 | c.628+11057G>A c.187-843G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749330_124749331insC | CA2509168703 | EEF1AKMT2 | c.628+11055_628+11056insG c.187-845_187-844insG | |
10 | g.124749331_124749332insGTTT | CA2521487480 | EEF1AKMT2 | c.628+11054_628+11055insAAAC c.187-846_187-845insAAAC | |
10 | g.124749332C= | CA1942505675 | EEF1AKMT2 | c.628+11054G= c.187-846G= | |
10 | g.124749332C>T | CA596567094 | EEF1AKMT2 | c.628+11054G>A c.187-846G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749333A= | CA1942505676 | EEF1AKMT2 | c.628+11053T= c.187-847T= | |
10 | g.124749333A>T | CA661147967 | EEF1AKMT2 | c.628+11053T>A c.187-847T>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749334T>C | CA215622193 | EEF1AKMT2 | c.628+11052A>G c.187-848A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749334T= | CA1942505677 | EEF1AKMT2 | c.628+11052A= c.187-848A= | |
10 | g.124749336C>A | CA661147969 | EEF1AKMT2 | c.628+11050G>T c.187-850G>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749336C= | CA1942505678 | EEF1AKMT2 | c.628+11050G= c.187-850G= | |
10 | g.124749339G>A | CA1942505680 | EEF1AKMT2 | c.628+11047C>T c.187-853C>T | dbSNP |
10 | g.124749339G= | CA1942505679 | EEF1AKMT2 | c.628+11047C= c.187-853C= | |
10 | g.124749344T>G | CA596567096 | EEF1AKMT2 | c.628+11042A>C c.187-858A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749344T= | CA1942505681 | EEF1AKMT2 | c.628+11042A= c.187-858A= | |
10 | g.124749346A= | CA1942505682 | EEF1AKMT2 | c.628+11040T= c.187-860T= | |
10 | g.124749346A>C | CA215622194 | EEF1AKMT2 | c.628+11040T>G c.187-860T>G | dbSNP |
10 | g.124749346A>T | CA661147970 | EEF1AKMT2 | c.628+11040T>A c.187-860T>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749347A= | CA1942505683 | EEF1AKMT2 | c.628+11039T= c.187-861T= | |
10 | g.124749347A>G | CA596567098 | EEF1AKMT2 | c.628+11039T>C c.187-861T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749347A>T | CA215622195 | EEF1AKMT2 | c.628+11039T>A c.187-861T>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749348T>C | CA661147972 | EEF1AKMT2 | c.628+11038A>G c.187-862A>G | dbSNP |
10 | g.124749348T= | CA1942505684 | EEF1AKMT2 | c.628+11038A= c.187-862A= | |
10 | g.124749349T>G | CA933503583 | EEF1AKMT2 | c.628+11037A>C c.187-863A>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749349T= | CA1942505685 | EEF1AKMT2 | c.628+11037A= c.187-863A= | |
10 | g.124749351C= | CA1942505686 | EEF1AKMT2 | c.628+11035G= c.187-865G= | |
10 | g.124749353dup | CA215622196 | EEF1AKMT2 | c.628+11034dup c.187-866dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749368G>C | CA661147975 | EEF1AKMT2 | c.628+11018C>G c.187-882C>G | dbSNP |
10 | g.124749368G= | CA1942505687 | EEF1AKMT2 | c.628+11018C= c.187-882C= | |
10 | g.124749371T>G | CA215622197 | EEF1AKMT2 | c.628+11015A>C c.187-885A>C | dbSNP |
10 | g.124749371T= | CA1942505688 | EEF1AKMT2 | c.628+11015A= c.187-885A= | |
10 | g.124749371_124749374delinsTGTC | CA1942505689 | EEF1AKMT2 | c.628+11012_628+11015delinsGACA c.187-888_187-885delinsGACA | |
10 | g.124749372_124749374del | CA933503591 | EEF1AKMT2 | c.628+11012_628+11014del c.187-888_187-886del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749376A= | CA1942505690 | EEF1AKMT2 | c.628+11010T= c.187-890T= | |
10 | g.124749376A>G | CA1942505691 | EEF1AKMT2 | c.628+11010T>C c.187-890T>C | dbSNP |
10 | g.124749377T>C | CA661147977 | EEF1AKMT2 | c.628+11009A>G c.187-891A>G | dbSNP |
10 | g.124749377T= | CA1942505692 | EEF1AKMT2 | c.628+11009A= c.187-891A= | |
10 | g.124749378_124749383delinsCTATTA | CA1942505693 | EEF1AKMT2 | c.628+11003_628+11008delinsTAATAG c.187-897_187-892delinsTAATAG | |
10 | g.124749384_124749388del | CA215622198 | EEF1AKMT2 | c.628+11003_628+11007del c.187-897_187-893del | dbSNP |
10 | g.124749380A= | CA1942505694 | EEF1AKMT2 | c.628+11006T= c.187-894T= | |
10 | g.124749380A>G | CA215622199 | EEF1AKMT2 | c.628+11006T>C c.187-894T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749381T>G | CA215622200 | EEF1AKMT2 | c.628+11005A>C c.187-895A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749381T= | CA1942505695 | EEF1AKMT2 | c.628+11005A= c.187-895A= | |
10 | g.124749382del | CA2559294490 | EEF1AKMT2 | c.628+11005del c.187-895del | |
10 | g.124749397C= | CA1942505696 | EEF1AKMT2 | c.628+10989G= c.187-911G= | |
10 | g.124749397C>G | CA1942505697 | EEF1AKMT2 | c.628+10989G>C c.187-911G>C | dbSNP |
10 | g.124749401G= | CA1942505698 | EEF1AKMT2 | c.628+10985C= c.187-915C= | |
10 | g.124749401G>T | CA1942505699 | EEF1AKMT2 | c.628+10985C>A c.187-915C>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749409G>A | CA1942505701 | EEF1AKMT2 | c.628+10977C>T c.187-923C>T | dbSNP |
10 | g.124749409G= | CA1942505700 | EEF1AKMT2 | c.628+10977C= c.187-923C= | |
10 | g.124749413G>A | CA596567102 | EEF1AKMT2 | c.628+10973C>T c.187-927C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749413G= | CA1942505702 | EEF1AKMT2 | c.628+10973C= c.187-927C= | |
10 | g.124749418C>A | CA215622201 | EEF1AKMT2 | c.628+10968G>T c.187-932G>T | dbSNP |
10 | g.124749418C= | CA1942505703 | EEF1AKMT2 | c.628+10968G= c.187-932G= | |
10 | g.124749421A= | CA1942505704 | EEF1AKMT2 | c.628+10965T= c.187-935T= | |
10 | g.124749421A>G | CA596567103 | EEF1AKMT2 | c.628+10965T>C c.187-935T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |