Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
10 | g.124749422C= | CA1942505705 | EEF1AKMT2 | c.628+10964G= c.187-936G= | |
10 | g.124749422C>T | CA661147985 | EEF1AKMT2 | c.628+10964G>A c.187-936G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749424_124749431delinsCATGACTG | CA1942505706 | EEF1AKMT2 | c.628+10955_628+10962delinsCAGTCATG c.187-945_187-938delinsCAGTCATG | |
10 | g.124749425_124749431del | CA661147987 | EEF1AKMT2 | c.628+10955_628+10961del c.187-945_187-939del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749426_124749427delinsTG | CA1942505707 | EEF1AKMT2 | c.628+10959_628+10960delinsCA c.187-941_187-940delinsCA | |
10 | g.124749427del | CA1942505708 | EEF1AKMT2 | c.628+10959del c.187-941del | dbSNP |
10 | g.124749428A= | CA1942505709 | EEF1AKMT2 | c.628+10958T= c.187-942T= | |
10 | g.124749428A>G | CA215622202 | EEF1AKMT2 | c.628+10958T>C c.187-942T>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749430T>C | CA1942505711 | EEF1AKMT2 | c.628+10956A>G c.187-944A>G | dbSNP |
10 | g.124749430T= | CA1942505710 | EEF1AKMT2 | c.628+10956A= c.187-944A= | |
10 | g.124749433T>C | CA1942505713 | EEF1AKMT2 | c.628+10953A>G c.187-947A>G | dbSNP |
10 | g.124749433T= | CA1942505712 | EEF1AKMT2 | c.628+10953A= c.187-947A= | |
10 | g.124749435_124749440delinsTAAGAG | CA1942505714 | EEF1AKMT2 | c.628+10946_628+10951delinsCTCTTA c.187-954_187-949delinsCTCTTA | |
10 | g.124749440_124749444del | CA933503602 | EEF1AKMT2 | c.628+10946_628+10950del c.187-954_187-950del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749439A= | CA1942505715 | EEF1AKMT2 | c.628+10947T= c.187-953T= | |
10 | g.124749439A>G | CA215622203 | EEF1AKMT2 | c.628+10947T>C c.187-953T>C | dbSNP |
10 | g.124749440G>A | CA1942505717 | EEF1AKMT2 | c.628+10946C>T c.187-954C>T | dbSNP |
10 | g.124749440G>C | CA596567104 | EEF1AKMT2 | c.628+10946C>G c.187-954C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749440G= | CA1942505716 | EEF1AKMT2 | c.628+10946C= c.187-954C= | |
10 | g.124749441A= | CA1942505718 | EEF1AKMT2 | c.628+10945T= c.187-955T= | |
10 | g.124749441A>C | CA661147990 | EEF1AKMT2 | c.628+10945T>G c.187-955T>G | dbSNP |
10 | g.124749442A= | CA1942505720 | EEF1AKMT2 | c.628+10944T= c.187-956T= | |
10 | g.124749442A>T | CA1942505719 | EEF1AKMT2 | c.628+10944T>A c.187-956T>A | dbSNP |
10 | g.124749447A= | CA1942505721 | EEF1AKMT2 | c.628+10939T= c.187-961T= | |
10 | g.124749447A>G | CA933503624 | EEF1AKMT2 | c.628+10939T>C c.187-961T>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749449C>G | CA2589189012 | EEF1AKMT2 | c.628+10937G>C c.187-963G>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749450C>A | CA2580968549 | EEF1AKMT2 | c.628+10936G>T c.187-964G>T | |
10 | g.124749450C= | CA1942505722 | EEF1AKMT2 | c.628+10936G= c.187-964G= | |
10 | g.124749450C>G | CA2580968548 | EEF1AKMT2 | c.628+10936G>C c.187-964G>C | |
10 | g.124749450C>T | CA215622204 | EEF1AKMT2 | c.628+10936G>A c.187-964G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749450_124749451delinsCT | CA1942505723 | EEF1AKMT2 | c.628+10935_628+10936delinsAG c.187-965_187-964delinsAG | |
10 | g.124749451T>G | CA1942505725 | EEF1AKMT2 | c.628+10935A>C c.187-965A>C | dbSNP |
10 | g.124749451T= | CA1942505724 | EEF1AKMT2 | c.628+10935A= c.187-965A= | |
10 | g.124749452del | CA596567107 | EEF1AKMT2 | c.628+10935del c.187-965del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749455C>A | CA661147991 | EEF1AKMT2 | c.628+10931G>T c.187-969G>T | dbSNP |
10 | g.124749455C= | CA1942505726 | EEF1AKMT2 | c.628+10931G= c.187-969G= | |
10 | g.124749455C>T | CA215622205 | EEF1AKMT2 | c.628+10931G>A c.187-969G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124749456G>A | CA215622206 | EEF1AKMT2 | c.628+10930C>T c.187-970C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749456G= | CA1942505727 | EEF1AKMT2 | c.628+10930C= c.187-970C= | |
10 | g.124749460T>C | CA215622207 | EEF1AKMT2 | c.628+10926A>G c.187-974A>G | dbSNP |
10 | g.124749460T= | CA1942505728 | EEF1AKMT2 | c.628+10926A= c.187-974A= | |
10 | g.124749461T>C | CA215622208 | EEF1AKMT2 | c.628+10925A>G c.187-975A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749461T= | CA1942505729 | EEF1AKMT2 | c.628+10925A= c.187-975A= | |
10 | g.124749462G>C | CA661147995 | EEF1AKMT2 | c.628+10924C>G c.187-976C>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749462G= | CA1942505730 | EEF1AKMT2 | c.628+10924C= c.187-976C= | |
10 | g.124749463T>C | CA215622209 | EEF1AKMT2 | c.628+10923A>G c.187-977A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749463T= | CA1942505731 | EEF1AKMT2 | c.628+10923A= c.187-977A= | |
10 | g.124749463dup | CA661147998 | EEF1AKMT2 | c.628+10923dup c.187-977dup | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749465T>C | CA933503634 | EEF1AKMT2 | c.628+10921A>G c.187-979A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124749465T= | CA1942505732 | EEF1AKMT2 | c.628+10921A= c.187-979A= | |
10 | g.124749468G>T | CA2789839832 | EEF1AKMT2 | c.628+10918C>A c.187-982C>A |