Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.145443092C= | CA1670153028 | EPM2A | c.556-58995G= c.773-58995G= (n.773-58995G=) | |
6 | g.145443092C>T | CA820292333 | EPM2A | c.556-58995G>A c.773-58995G>A (n.773-58995G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443093G>A | CA820292335 | EPM2A | c.556-58996C>T c.773-58996C>T (n.773-58996C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443093G= | CA1670153029 | EPM2A | c.556-58996C= c.773-58996C= (n.773-58996C=) | |
6 | g.145443095T>A | CA149037542 | EPM2A | c.556-58998A>T c.773-58998A>T (n.773-58998A>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443095T= | CA1670153030 | EPM2A | c.556-58998A= c.773-58998A= (n.773-58998A=) | |
6 | g.145443098C>T | CA2569693829 | EPM2A | c.556-59001G>A c.773-59001G>A (n.773-59001G>A) | |
6 | g.145443099C>A | CA149037546 | EPM2A | c.556-59002G>T c.773-59002G>T (n.773-59002G>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443099C= | CA1670153031 | EPM2A | c.556-59002G= c.773-59002G= (n.773-59002G=) | |
6 | g.145443102A= | CA1670153032 | EPM2A | c.556-59005T= c.773-59005T= (n.773-59005T=) | |
6 | g.145443102A>C | CA1670153033 | EPM2A | c.556-59005T>G c.773-59005T>G (n.773-59005T>G) | dbSNP |
6 | g.145443104C= | CA1670153034 | EPM2A | c.556-59007G= c.773-59007G= (n.773-59007G=) | |
6 | g.145443104C>T | CA571187005 | EPM2A | c.556-59007G>A c.773-59007G>A (n.773-59007G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443106T>C | CA1095473470 | EPM2A | c.556-59009A>G c.773-59009A>G (n.773-59009A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443106T= | CA1670153035 | EPM2A | c.556-59009A= c.773-59009A= (n.773-59009A=) | |
6 | g.145443107G= | CA1670153036 | EPM2A | c.556-59010C= c.773-59010C= (n.773-59010C=) | |
6 | g.145443107G>T | CA820292340 | EPM2A | c.556-59010C>A c.773-59010C>A (n.773-59010C>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443113C= | CA1670153037 | EPM2A | c.556-59016G= c.773-59016G= (n.773-59016G=) | |
6 | g.145443113C>T | CA820292342 | EPM2A | c.556-59016G>A c.773-59016G>A (n.773-59016G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443114A= | CA1670153038 | EPM2A | c.556-59017T= c.773-59017T= (n.773-59017T=) | |
6 | g.145443114A>C | CA1670153039 | EPM2A | c.556-59017T>G c.773-59017T>G (n.773-59017T>G) | dbSNP |
6 | g.145443114A>G | CA1095473471 | EPM2A | c.556-59017T>C c.773-59017T>C (n.773-59017T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443115C>A | CA149037550 | EPM2A | c.556-59018G>T c.773-59018G>T (n.773-59018G>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443115C= | CA1670153040 | EPM2A | c.556-59018G= c.773-59018G= (n.773-59018G=) | |
6 | g.145443116C= | CA1670153041 | EPM2A | c.556-59019G= c.773-59019G= (n.773-59019G=) | |
6 | g.145443116C>T | CA1095473472 | EPM2A | c.556-59019G>A c.773-59019G>A (n.773-59019G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443117T>C | CA2713296691 | EPM2A | c.556-59020A>G c.773-59020A>G (n.773-59020A>G) | dbSNP |
6 | g.145443119C>A | CA149037554 | EPM2A | c.556-59022G>T c.773-59022G>T (n.773-59022G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443119C= | CA1670153042 | EPM2A | c.556-59022G= c.773-59022G= (n.773-59022G=) | |
6 | g.145443119C>T | CA820292345 | EPM2A | c.556-59022G>A c.773-59022G>A (n.773-59022G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443122C= | CA1670153043 | EPM2A | c.556-59025G= c.773-59025G= (n.773-59025G=) | |
6 | g.145443122C>T | CA149037558 | EPM2A | c.556-59025G>A c.773-59025G>A (n.773-59025G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443123G>A | CA149037561 | EPM2A | c.556-59026C>T c.773-59026C>T (n.773-59026C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443123G>C | CA149037568 | EPM2A | c.556-59026C>G c.773-59026C>G (n.773-59026C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443123G= | CA1670153044 | EPM2A | c.556-59026C= c.773-59026C= (n.773-59026C=) | |
6 | g.145443124G>A | CA2773417246 | EPM2A | c.556-59027C>T c.773-59027C>T (n.773-59027C>T) | |
6 | g.145443125C= | CA1670153045 | EPM2A | c.556-59028G= c.773-59028G= (n.773-59028G=) | |
6 | g.145443125C>G | CA820292351 | EPM2A | c.556-59028G>C c.773-59028G>C (n.773-59028G>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443126C= | CA1670153046 | EPM2A | c.556-59029G= c.773-59029G= (n.773-59029G=) | |
6 | g.145443126C>G | CA820292353 | EPM2A | c.556-59029G>C c.773-59029G>C (n.773-59029G>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443129C= | CA1670153047 | EPM2A | c.556-59032G= c.773-59032G= (n.773-59032G=) | |
6 | g.145443129C>T | CA571187012 | EPM2A | c.556-59032G>A c.773-59032G>A (n.773-59032G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443137C>T | CA2564574184 | EPM2A | c.556-59040G>A c.773-59040G>A (n.773-59040G>A) | |
6 | g.145443140T>G | CA1095473483 | EPM2A | c.556-59043A>C c.773-59043A>C (n.773-59043A>C) | gnomAD v3 gnomAD v4 |
6 | g.145443141A= | CA1670153048 | EPM2A | c.556-59044T= c.773-59044T= (n.773-59044T=) | |
6 | g.145443141A>G | CA1095473485 | EPM2A | c.556-59044T>C c.773-59044T>C (n.773-59044T>C) | gnomAD v3 gnomAD v4 |
6 | g.145443141A>T | CA820292360 | EPM2A | c.556-59044T>A c.773-59044T>A (n.773-59044T>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443143T>C | CA2604971543 | EPM2A | c.556-59046A>G c.773-59046A>G (n.773-59046A>G) | gnomAD v3 gnomAD v4 |
6 | g.145443150T>C | CA12281153 | EPM2A | c.556-59053A>G c.773-59053A>G (n.773-59053A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443150T= | CA1670153049 | EPM2A | c.556-59053A= c.773-59053A= (n.773-59053A=) | |
6 | g.145443150_145443151insC | CA651213042 | EPM2A | c.556-59054_556-59053insG c.773-59054_773-59053insG (n.773-59054_773-59053insG) | |
6 | g.145443151G>A | CA149037578 | EPM2A | c.556-59054C>T c.773-59054C>T (n.773-59054C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443151G= | CA1670153050 | EPM2A | c.556-59054C= c.773-59054C= (n.773-59054C=) | |
6 | g.145443153G>A | CA1095473497 | EPM2A | c.556-59056C>T c.773-59056C>T (n.773-59056C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443153G= | CA1670153051 | EPM2A | c.556-59056C= c.773-59056C= (n.773-59056C=) | |
6 | g.145443154A= | CA1670153052 | EPM2A | c.556-59057T= c.773-59057T= (n.773-59057T=) | |
6 | g.145443154A>G | CA1670153053 | EPM2A | c.556-59057T>C c.773-59057T>C (n.773-59057T>C) | dbSNP |
6 | g.145443156C= | CA1670153054 | EPM2A | c.556-59059G= c.773-59059G= (n.773-59059G=) | |
6 | g.145443156C>G | CA1670153055 | EPM2A | c.556-59059G>C c.773-59059G>C (n.773-59059G>C) | dbSNP |
6 | g.145443162C= | CA1670153056 | EPM2A | c.556-59065G= c.773-59065G= (n.773-59065G=) | |
6 | g.145443162C>T | CA820292363 | EPM2A | c.556-59065G>A c.773-59065G>A (n.773-59065G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443164C>A | CA571187014 | EPM2A | c.556-59067G>T c.773-59067G>T (n.773-59067G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443164C= | CA1670153057 | EPM2A | c.556-59067G= c.773-59067G= (n.773-59067G=) | |
6 | g.145443165C>T | CA2773417247 | EPM2A | c.556-59068G>A c.773-59068G>A (n.773-59068G>A) | |
6 | g.145443166C= | CA1670153058 | EPM2A | c.556-59069G= c.773-59069G= (n.773-59069G=) | |
6 | g.145443166C>T | CA149037580 | EPM2A | c.556-59069G>A c.773-59069G>A (n.773-59069G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.145443166_145443167delinsCG | CA1670153059 | EPM2A | c.556-59070_556-59069delinsCG c.773-59070_773-59069delinsCG (n.773-59070_773-59069delinsCG) | |
6 | g.145443167G>A | CA820292364 | EPM2A | c.556-59070C>T c.773-59070C>T (n.773-59070C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443167G= | CA1670153060 | EPM2A | c.556-59070C= c.773-59070C= (n.773-59070C=) | |
6 | g.145443168del | CA1670153061 | EPM2A | c.556-59070del c.773-59070del (n.773-59070del) | dbSNP |
6 | g.145443168G>C | CA149037581 | EPM2A | c.556-59071C>G c.773-59071C>G (n.773-59071C>G) | dbSNP |
6 | g.145443168G= | CA1670153062 | EPM2A | c.556-59071C= c.773-59071C= (n.773-59071C=) | |
6 | g.145443169C= | CA1670153063 | EPM2A | c.556-59072G= c.773-59072G= (n.773-59072G=) | |
6 | g.145443169C>T | CA149037583 | EPM2A | c.556-59072G>A c.773-59072G>A (n.773-59072G>A) | dbSNP |
6 | g.145443170_145443171insATGC | CA2773417248 | EPM2A | c.556-59073_556-59072insCATG c.773-59073_773-59072insCATG (n.773-59073_773-59072insCATG) | |
6 | g.145443171C= | CA1670153064 | EPM2A | c.556-59074G= c.773-59074G= (n.773-59074G=) | |
6 | g.145443171C>G | CA1670153065 | EPM2A | c.556-59074G>C c.773-59074G>C (n.773-59074G>C) | dbSNP |
6 | g.145443175C>A | CA2773417249 | EPM2A | c.556-59078G>T c.773-59078G>T (n.773-59078G>T) | |
6 | g.145443177T>C | CA1670153067 | EPM2A | c.556-59080A>G c.773-59080A>G (n.773-59080A>G) | dbSNP |
6 | g.145443177T= | CA1670153066 | EPM2A | c.556-59080A= c.773-59080A= (n.773-59080A=) | |
6 | g.145443181T>C | CA1670153069 | EPM2A | c.556-59084A>G c.773-59084A>G (n.773-59084A>G) | dbSNP |
6 | g.145443181T= | CA1670153068 | EPM2A | c.556-59084A= c.773-59084A= (n.773-59084A=) | |
6 | g.145443189T>C | CA1095473504 | EPM2A | c.556-59092A>G c.773-59092A>G (n.773-59092A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.145443189T= | CA1670153070 | EPM2A | c.556-59092A= c.773-59092A= (n.773-59092A=) | |
6 | g.145443191T>C | CA820292365 | EPM2A | c.556-59094A>G c.773-59094A>G (n.773-59094A>G) | dbSNP |
6 | g.145443191T= | CA1670153071 | EPM2A | c.556-59094A= c.773-59094A= (n.773-59094A=) |