Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.124749277T>C | CA596567090 | EEF1AKMT2 | c.628+11109A>G c.187-791A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749277T= | CA1942505657 | EEF1AKMT2 | c.628+11109A= c.187-791A= | |
10 | g.124749282C>T | CA2722977537 | EEF1AKMT2 | c.628+11104G>A c.187-796G>A | dbSNP |
10 | g.124749283_124749284delinsTA | CA1942505658 | EEF1AKMT2 | c.628+11102_628+11103delinsTA c.187-798_187-797delinsTA | |
10 | g.124749287del | CA596567091 | EEF1AKMT2 | c.628+11102del c.187-798del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749290C= | CA1942505659 | EEF1AKMT2 | c.628+11096G= c.187-804G= | |
10 | g.124749290C>T | CA215622187 | EEF1AKMT2 | c.628+11096G>A c.187-804G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749296A= | CA1942505660 | EEF1AKMT2 | c.628+11090T= c.187-810T= | |
10 | g.124749296A>C | CA1942505661 | EEF1AKMT2 | c.628+11090T>G c.187-810T>G | dbSNP |
10 | g.124749299C= | CA1942505662 | EEF1AKMT2 | c.628+11087G= c.187-813G= | |
10 | g.124749299C>G | CA215622188 | EEF1AKMT2 | c.628+11087G>C c.187-813G>C | dbSNP |
10 | g.124749304G>A | CA215622189 | EEF1AKMT2 | c.628+11082C>T c.187-818C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749304G= | CA1942505663 | EEF1AKMT2 | c.628+11082C= c.187-818C= | |
10 | g.124749304G>T | CA1942505664 | EEF1AKMT2 | c.628+11082C>A c.187-818C>A | dbSNP |
10 | g.124749306G>A | CA933503573 | EEF1AKMT2 | c.628+11080C>T c.187-820C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749306G= | CA1942505665 | EEF1AKMT2 | c.628+11080C= c.187-820C= | |
10 | g.124749307C>A | CA1942505667 | EEF1AKMT2 | c.628+11079G>T c.187-821G>T | dbSNP |
10 | g.124749307C= | CA1942505666 | EEF1AKMT2 | c.628+11079G= c.187-821G= | |
10 | g.124749312C>A | CA2553333002 | EEF1AKMT2 | c.628+11074G>T c.187-826G>T | |
10 | g.124749312C= | CA1942505668 | EEF1AKMT2 | c.628+11074G= c.187-826G= | |
10 | g.124749312C>T | CA215622190 | EEF1AKMT2 | c.628+11074G>A c.187-826G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749313G>A | CA661147963 | EEF1AKMT2 | c.628+11073C>T c.187-827C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749313G= | CA1942505669 | EEF1AKMT2 | c.628+11073C= c.187-827C= | |
10 | g.124749318G>C | CA215622191 | EEF1AKMT2 | c.628+11068C>G c.187-832C>G | dbSNP |
10 | g.124749318G= | CA1942505670 | EEF1AKMT2 | c.628+11068C= c.187-832C= | |
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 |