Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.145442980C= | CA1670152960 | EPM2A | c.556-58883G= c.773-58883G= (n.773-58883G=) | |
6 | g.145442980C>G | CA571186968 | EPM2A | c.556-58883G>C c.773-58883G>C (n.773-58883G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145442983T>C | CA1095473389 | EPM2A | c.556-58886A>G c.773-58886A>G (n.773-58886A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145442983T= | CA1670152961 | EPM2A | c.556-58886A= c.773-58886A= (n.773-58886A=) | |
6 | g.145442985T>C | CA1095473391 | EPM2A | c.556-58888A>G c.773-58888A>G (n.773-58888A>G) | gnomAD v3 gnomAD v4 |
6 | g.145442988G>A | CA149037388 | EPM2A | c.556-58891C>T c.773-58891C>T (n.773-58891C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145442988G= | CA1670152962 | EPM2A | c.556-58891C= c.773-58891C= (n.773-58891C=) | |
6 | g.145442989T>A | CA571186970 | EPM2A | c.556-58892A>T c.773-58892A>T (n.773-58892A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145442989T= | CA1670152963 | EPM2A | c.556-58892A= c.773-58892A= (n.773-58892A=) | |
6 | g.145442990A= | CA1670152964 | EPM2A | c.556-58893T= c.773-58893T= (n.773-58893T=) | |
6 | g.145442990A>G | CA1095473397 | EPM2A | c.556-58893T>C c.773-58893T>C (n.773-58893T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145442994G>A | CA1670152966 | EPM2A | c.556-58897C>T c.773-58897C>T (n.773-58897C>T) | dbSNP |
6 | g.145442994G= | CA1670152965 | EPM2A | c.556-58897C= c.773-58897C= (n.773-58897C=) | |
6 | g.145442994G>T | CA571186971 | EPM2A | c.556-58897C>A c.773-58897C>A (n.773-58897C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145442996G= | CA1670152967 | EPM2A | c.556-58899C= c.773-58899C= (n.773-58899C=) | |
6 | g.145442996G>T | CA820292291 | EPM2A | c.556-58899C>A c.773-58899C>A (n.773-58899C>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145442998C>T | CA1095473408 | EPM2A | c.556-58901G>A c.773-58901G>A (n.773-58901G>A) | gnomAD v3 gnomAD v4 |
6 | g.145442999T>C | CA571186974 | EPM2A | c.556-58902A>G c.773-58902A>G (n.773-58902A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145442999T= | CA1670152968 | EPM2A | c.556-58902A= c.773-58902A= (n.773-58902A=) | |
6 | g.145443000A= | CA1670152969 | EPM2A | c.556-58903T= c.773-58903T= (n.773-58903T=) | |
6 | g.145443000A>T | CA571186977 | EPM2A | c.556-58903T>A c.773-58903T>A (n.773-58903T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443001C>A | CA2713296646 | EPM2A | c.556-58904G>T c.773-58904G>T (n.773-58904G>T) | dbSNP |
6 | g.145443006A= | CA1670152970 | EPM2A | c.556-58909T= c.773-58909T= (n.773-58909T=) | |
6 | g.145443006A>C | CA1670152971 | EPM2A | c.556-58909T>G c.773-58909T>G (n.773-58909T>G) | dbSNP |
6 | g.145443006A>G | CA1095473412 | EPM2A | c.556-58909T>C c.773-58909T>C (n.773-58909T>C) | gnomAD v3 gnomAD v4 |
6 | g.145443007C= | CA1670152972 | EPM2A | c.556-58910G= c.773-58910G= (n.773-58910G=) | |
6 | g.145443007C>T | CA149037391 | EPM2A | c.556-58910G>A c.773-58910G>A (n.773-58910G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443009T>A | CA820292295 | EPM2A | c.556-58912A>T c.773-58912A>T (n.773-58912A>T) | dbSNP |
6 | g.145443009T= | CA1670152973 | EPM2A | c.556-58912A= c.773-58912A= (n.773-58912A=) | |
6 | g.145443010G>A | CA149037395 | EPM2A | c.556-58913C>T c.773-58913C>T (n.773-58913C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443010G= | CA1670152974 | EPM2A | c.556-58913C= c.773-58913C= (n.773-58913C=) | |
6 | g.145443017C= | CA1670152975 | EPM2A | c.556-58920G= c.773-58920G= (n.773-58920G=) | |
6 | g.145443017C>T | CA149037399 | EPM2A | c.556-58920G>A c.773-58920G>A (n.773-58920G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443018G>A | CA149037406 | EPM2A | c.556-58921C>T c.773-58921C>T (n.773-58921C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443018G= | CA1670152976 | EPM2A | c.556-58921C= c.773-58921C= (n.773-58921C=) | |
6 | g.145443021C>A | CA1670152978 | EPM2A | c.556-58924G>T c.773-58924G>T (n.773-58924G>T) | dbSNP |
6 | g.145443021C= | CA1670152977 | EPM2A | c.556-58924G= c.773-58924G= (n.773-58924G=) | |
6 | g.145443021C>T | CA149037419 | EPM2A | c.556-58924G>A c.773-58924G>A (n.773-58924G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443022G>A | CA149037434 | EPM2A | c.556-58925C>T c.773-58925C>T (n.773-58925C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443022G>C | CA1670152980 | EPM2A | c.556-58925C>G c.773-58925C>G (n.773-58925C>G) | dbSNP |
6 | g.145443022G= | CA1670152979 | EPM2A | c.556-58925C= c.773-58925C= (n.773-58925C=) | |
6 | g.145443023G>A | CA820292299 | EPM2A | c.556-58926C>T c.773-58926C>T (n.773-58926C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443023G= | CA1670152981 | EPM2A | c.556-58926C= c.773-58926C= (n.773-58926C=) | |
6 | g.145443023G>T | CA2773417242 | EPM2A | c.556-58926C>A c.773-58926C>A (n.773-58926C>A) | |
6 | g.145443024C>A | CA571186988 | EPM2A | c.556-58927G>T c.773-58927G>T (n.773-58927G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443024C= | CA1670152982 | EPM2A | c.556-58927G= c.773-58927G= (n.773-58927G=) | |
6 | g.145443027A= | CA1670152983 | EPM2A | c.556-58930T= c.773-58930T= (n.773-58930T=) | |
6 | g.145443027A>C | CA1670152984 | EPM2A | c.556-58930T>G c.773-58930T>G (n.773-58930T>G) | dbSNP |
6 | g.145443027A>G | CA149037437 | EPM2A | c.556-58930T>C c.773-58930T>C (n.773-58930T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443029T>C | CA149037441 | EPM2A | c.556-58932A>G c.773-58932A>G (n.773-58932A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443029T= | CA1670152985 | EPM2A | c.556-58932A= c.773-58932A= (n.773-58932A=) | |
6 | g.145443030_145443031insGT | CA820292302 | EPM2A | c.556-58933_556-58932insCA c.773-58933_773-58932insCA (n.773-58933_773-58932insCA) | dbSNP |
6 | g.145443031T>G | CA149037443 | EPM2A | c.556-58934A>C c.773-58934A>C (n.773-58934A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.145443031T= | CA1670152986 | EPM2A | c.556-58934A= c.773-58934A= (n.773-58934A=) | |
6 | g.145443031_145443037delinsTTGTGTG | CA1670152987 | EPM2A | c.556-58940_556-58934delinsCACACAA c.773-58940_773-58934delinsCACACAA (n.773-58940_773-58934delinsCACACAA) | |
6 | g.145443047_145443048dup | CA149037446 | EPM2A | c.556-58936_556-58935dup c.773-58936_773-58935dup (n.773-58936_773-58935dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443045_145443048dup | CA571186995 | EPM2A | c.556-58938_556-58935dup c.773-58938_773-58935dup (n.773-58938_773-58935dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443047_145443048del | CA149037454 | EPM2A | c.556-58936_556-58935del c.773-58936_773-58935del (n.773-58936_773-58935del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443045_145443048del | CA820292311 | EPM2A | c.556-58938_556-58935del c.773-58938_773-58935del (n.773-58938_773-58935del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443043_145443048del | CA1095473420 | EPM2A | c.556-58940_556-58935del c.773-58940_773-58935del (n.773-58940_773-58935del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443033G= | CA1670152988 | EPM2A | c.556-58936C= c.773-58936C= (n.773-58936C=) | |
6 | g.145443033G>T | CA149037459 | EPM2A | c.556-58936C>A c.773-58936C>A (n.773-58936C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.145443034T>C | CA2550454699 | EPM2A | c.556-58937A>G c.773-58937A>G (n.773-58937A>G) | |
6 | g.145443034T>G | CA571186997 | EPM2A | c.556-58937A>C c.773-58937A>C (n.773-58937A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443034T= | CA1670152989 | EPM2A | c.556-58937A= c.773-58937A= (n.773-58937A=) | |
6 | g.145443035G>A | CA149037465 | EPM2A | c.556-58938C>T c.773-58938C>T (n.773-58938C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443035G= | CA1670152990 | EPM2A | c.556-58938C= c.773-58938C= (n.773-58938C=) | |
6 | g.145443037G>A | CA2773417243 | EPM2A | c.556-58940C>T c.773-58940C>T (n.773-58940C>T) | |
6 | g.145443037G>T | CA2501589443 | EPM2A | c.556-58940C>A c.773-58940C>A (n.773-58940C>A) | |
6 | g.145443038T>A | CA1095473428 | EPM2A | c.556-58941A>T c.773-58941A>T (n.773-58941A>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443038T>C | CA820292315 | EPM2A | c.556-58941A>G c.773-58941A>G (n.773-58941A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443038T= | CA1670152991 | EPM2A | c.556-58941A= c.773-58941A= (n.773-58941A=) | |
6 | g.145443039G>A | CA149037468 | EPM2A | c.556-58942C>T c.773-58942C>T (n.773-58942C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443039G= | CA1670152992 | EPM2A | c.556-58942C= c.773-58942C= (n.773-58942C=) | |
6 | g.145443039G>T | CA2713130347 | EPM2A | c.556-58942C>A c.773-58942C>A (n.773-58942C>A) | dbSNP |
6 | g.145443041G>A | CA2501062590 | EPM2A | c.556-58944C>T c.773-58944C>T (n.773-58944C>T) | |
6 | g.145443041G= | CA1670152993 | EPM2A | c.556-58944C= c.773-58944C= (n.773-58944C=) | |
6 | g.145443041G>T | CA1095473430 | EPM2A | c.556-58944C>A c.773-58944C>A (n.773-58944C>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443042T>A | CA2538274117 | EPM2A | c.556-58945A>T c.773-58945A>T (n.773-58945A>T) | |
6 | g.145443043G>A | CA820292319 | EPM2A | c.556-58946C>T c.773-58946C>T (n.773-58946C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443043G= | CA1670152994 | EPM2A | c.556-58946C= c.773-58946C= (n.773-58946C=) | |
6 | g.145443043G>T | CA2713148497 | EPM2A | c.556-58946C>A c.773-58946C>A (n.773-58946C>A) | dbSNP |
6 | g.145443045G>A | CA1095473436 | EPM2A | c.556-58948C>T c.773-58948C>T (n.773-58948C>T) | gnomAD v3 gnomAD v4 |
6 | g.145443046T>A | CA1670152996 | EPM2A | c.556-58949A>T c.773-58949A>T (n.773-58949A>T) | dbSNP |
6 | g.145443046T= | CA1670152995 | EPM2A | c.556-58949A= c.773-58949A= (n.773-58949A=) | |
6 | g.145443047G>T | CA1095473438 | EPM2A | c.556-58950C>A c.773-58950C>A (n.773-58950C>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443047_145443048delinsGT | CA1670152997 | EPM2A | c.556-58951_556-58950delinsAC c.773-58951_773-58950delinsAC (n.773-58951_773-58950delinsAC) | |
6 | g.145443047_145443048insCA | CA1095473441 | EPM2A | c.556-58951_556-58950insTG c.773-58951_773-58950insTG (n.773-58951_773-58950insTG) | gnomAD v3 gnomAD v4 |
6 | g.145443048T= | CA1670152998 | EPM2A | c.556-58951A= c.773-58951A= (n.773-58951A=) | |
6 | g.145443052del | CA820292321 | EPM2A | c.556-58951del c.773-58951del (n.773-58951del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443048_145443049insG | CA149037476 | EPM2A | c.556-58952_556-58951insC c.773-58952_773-58951insC (n.773-58952_773-58951insC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443049T>C | CA2773417244 | EPM2A | c.556-58952A>G c.773-58952A>G (n.773-58952A>G) | |
6 | g.145443049T>G | CA149037479 | EPM2A | c.556-58952A>C c.773-58952A>C (n.773-58952A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443049T= | CA1670152999 | EPM2A | c.556-58952A= c.773-58952A= (n.773-58952A=) | |
6 | g.145443049_145443050insG | CA571187002 | EPM2A | c.556-58953_556-58952insC c.773-58953_773-58952insC (n.773-58953_773-58952insC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443052T>C | CA149037497 | EPM2A | c.556-58955A>G c.773-58955A>G (n.773-58955A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443052T= | CA1670153000 | EPM2A | c.556-58955A= c.773-58955A= (n.773-58955A=) | |
6 | g.145443053A= | CA1670153001 | EPM2A | c.556-58956T= c.773-58956T= (n.773-58956T=) | |
6 | g.145443053A>C | CA149037505 | EPM2A | c.556-58956T>G c.773-58956T>G (n.773-58956T>G) | dbSNP |
6 | g.145443056A= | CA1670153002 | EPM2A | c.556-58959T= c.773-58959T= (n.773-58959T=) | |
6 | g.145443056A>G | CA1670153003 | EPM2A | c.556-58959T>C c.773-58959T>C (n.773-58959T>C) | dbSNP |
6 | g.145443060A= | CA1670153004 | EPM2A | c.556-58963T= c.773-58963T= (n.773-58963T=) | |
6 | g.145443060A>C | CA1670153005 | EPM2A | c.556-58963T>G c.773-58963T>G (n.773-58963T>G) | dbSNP |
6 | g.145443062G>A | CA1670153007 | EPM2A | c.556-58965C>T c.773-58965C>T (n.773-58965C>T) | dbSNP |
6 | g.145443062G= | CA1670153006 | EPM2A | c.556-58965C= c.773-58965C= (n.773-58965C=) | |
6 | g.145443063G>A | CA1670153009 | EPM2A | c.556-58966C>T c.773-58966C>T (n.773-58966C>T) | dbSNP |
6 | g.145443063G= | CA1670153008 | EPM2A | c.556-58966C= c.773-58966C= (n.773-58966C=) | |
6 | g.145443064G>A | CA1095473449 | EPM2A | c.556-58967C>T c.773-58967C>T (n.773-58967C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443064G= | CA1670153010 | EPM2A | c.556-58967C= c.773-58967C= (n.773-58967C=) | |
6 | g.145443065G= | CA1670153011 | EPM2A | c.556-58968C= c.773-58968C= (n.773-58968C=) | |
6 | g.145443065G>T | CA820292327 | EPM2A | c.556-58968C>A c.773-58968C>A (n.773-58968C>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443068T>C | CA149037512 | EPM2A | c.556-58971A>G c.773-58971A>G (n.773-58971A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443068T= | CA1670153012 | EPM2A | c.556-58971A= c.773-58971A= (n.773-58971A=) | |
6 | g.145443069C>A | CA1670153014 | EPM2A | c.556-58972G>T c.773-58972G>T (n.773-58972G>T) | dbSNP |
6 | g.145443069C= | CA1670153013 | EPM2A | c.556-58972G= c.773-58972G= (n.773-58972G=) | |
6 | g.145443073A= | CA1670153015 | EPM2A | c.556-58976T= c.773-58976T= (n.773-58976T=) | |
6 | g.145443073A>T | CA149037516 | EPM2A | c.556-58976T>A c.773-58976T>A (n.773-58976T>A) | dbSNP |
6 | g.145443074T>C | CA149037530 | EPM2A | c.556-58977A>G c.773-58977A>G (n.773-58977A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443074T= | CA1670153016 | EPM2A | c.556-58977A= c.773-58977A= (n.773-58977A=) | |
6 | g.145443078A= | CA1670153017 | EPM2A | c.556-58981T= c.773-58981T= (n.773-58981T=) | |
6 | g.145443078A>G | CA149037534 | EPM2A | c.556-58981T>C c.773-58981T>C (n.773-58981T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443079G>C | CA149037540 | EPM2A | c.556-58982C>G c.773-58982C>G (n.773-58982C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443079G= | CA1670153018 | EPM2A | c.556-58982C= c.773-58982C= (n.773-58982C=) |