Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67490216T>ACA381551421AIPc.645+2T>A (p.=)
n.297+2T>A (p.=)
c.456+2T>A (p.=)
c.468+2T>A (p.=)
11g.67490216T>CCA381551423AIPc.645+2T>C (p.=)
n.297+2T>C (p.=)
c.456+2T>C (p.=)
c.468+2T>C (p.=)
11g.67490216T>GCA381551419AIPc.645+2T>G (p.=)
n.297+2T>G (p.=)
c.456+2T>G (p.=)
c.468+2T>G (p.=)
11g.67490218C>GCA679494033AIPc.645+4C>G (p.=)
n.297+4C>G (p.=)
c.456+4C>G (p.=)
c.468+4C>G (p.=)
11g.67490226A>GCA6140883AIPc.645+12A>G (p.=)
n.297+12A>G (p.=)
c.456+12A>G (p.=)
c.468+12A>G (p.=)
dbSNP ExAC gnomAD
11g.67490229C>GCA6140884AIPc.645+15C>G (p.=)
n.297+15C>G (p.=)
c.456+15C>G (p.=)
c.468+15C>G (p.=)
dbSNP ExAC gnomAD
11g.67490234G>ACA600236225AIPc.645+20G>A (p.=)
n.297+20G>A (p.=)
c.456+20G>A (p.=)
c.468+20G>A (p.=)
gnomAD
11g.67490234G>TCA600236226AIPc.645+20G>T (p.=)
n.297+20G>T (p.=)
c.456+20G>T (p.=)
c.468+20G>T (p.=)
gnomAD
11g.67490235G>ACA679494039AIPc.645+21G>A (p.=)
n.297+21G>A (p.=)
c.456+21G>A (p.=)
c.468+21G>A (p.=)
11g.67490237G>ACA6140885AIPc.645+23G>A (p.=)
n.297+23G>A (p.=)
c.456+23G>A (p.=)
c.468+23G>A (p.=)
dbSNP ExAC gnomAD
11g.67490239G>CCA224165136AIPc.645+25G>C (p.=)
n.297+25G>C (p.=)
c.456+25G>C (p.=)
c.468+25G>C (p.=)
dbSNP
11g.67490246T>GCA679494044AIP,MIR6752c.645+32T>G (p.=)
n.297+32T>G (p.=)
c.456+32T>G (p.=)
c.468+32T>G (p.=)
n.2T>G
11g.67490255dupCA679494045AIP,MIR6752c.645+41dup (p.=)
n.297+41dup (p.=)
c.456+41dup (p.=)
c.468+41dup (p.=)
n.11dup
11g.67490255delCA600236227AIP,MIR6752c.645+41del (p.=)
n.297+41del (p.=)
c.456+41del (p.=)
c.468+41del (p.=)
n.11del
gnomAD
11g.67490251G>ACA600236228AIP,MIR6752c.645+37G>A (p.=)
n.297+37G>A (p.=)
c.456+37G>A (p.=)
c.468+37G>A (p.=)
n.7G>A
gnomAD
11g.67490251G>CCA6140887AIP,MIR6752c.645+37G>C (p.=)
n.297+37G>C (p.=)
c.456+37G>C (p.=)
c.468+37G>C (p.=)
n.7G>C
dbSNP ExAC gnomAD
11g.67490251G>TCA6140886AIP,MIR6752c.645+37G>T (p.=)
n.297+37G>T (p.=)
c.456+37G>T (p.=)
c.468+37G>T (p.=)
n.7G>T
dbSNP ExAC gnomAD
11g.67490252G>CCA6140888AIP,MIR6752c.645+38G>C (p.=)
n.297+38G>C (p.=)
c.456+38G>C (p.=)
c.468+38G>C (p.=)
n.8G>C
dbSNP ExAC gnomAD
11g.67490252G>TCA6140889AIP,MIR6752c.645+38G>T (p.=)
n.297+38G>T (p.=)
c.456+38G>T (p.=)
c.468+38G>T (p.=)
n.8G>T
dbSNP ExAC gnomAD
11g.67490255G>CCA6140890AIP,MIR6752c.645+41G>C (p.=)
n.297+41G>C (p.=)
c.456+41G>C (p.=)
c.468+41G>C (p.=)
n.11G>C
dbSNP ExAC gnomAD
11g.67490255G>TCA6140891AIP,MIR6752c.645+41G>T (p.=)
n.297+41G>T (p.=)
c.456+41G>T (p.=)
c.468+41G>T (p.=)
n.11G>T
dbSNP ExAC gnomAD
11g.67490264C>TCA6140892AIP,MIR6752c.645+50C>T (p.=)
n.297+50C>T (p.=)
c.456+50C>T (p.=)
c.468+50C>T (p.=)
n.20C>T
dbSNP ExAC gnomAD
11g.67490268G>ACA6140893AIP,MIR6752c.646-48G>A (p.=)
n.298-48G>A (p.=)
c.457-48G>A (p.=)
c.469-48G>A (p.=)
n.24G>A
dbSNP ExAC gnomAD
11g.67490269G>CCA6140894AIP,MIR6752c.646-47G>C (p.=)
n.298-47G>C (p.=)
c.457-47G>C (p.=)
c.469-47G>C (p.=)
n.25G>C
dbSNP ExAC gnomAD
11g.67490270G>ACA224165160AIP,MIR6752c.646-46G>A (p.=)
n.298-46G>A (p.=)
c.457-46G>A (p.=)
c.469-46G>A (p.=)
n.26G>A
dbSNP
11g.67490272C>GCA6140895AIP,MIR6752c.646-44C>G (p.=)
n.298-44C>G (p.=)
c.457-44C>G (p.=)
c.469-44C>G (p.=)
n.28C>G
dbSNP ExAC gnomAD
11g.67490273C>GCA6140896AIP,MIR6752c.646-43C>G (p.=)
n.298-43C>G (p.=)
c.457-43C>G (p.=)
c.469-43C>G (p.=)
n.29C>G
dbSNP ExAC gnomAD
11g.67490273C>TCA6140897AIP,MIR6752c.646-43C>T (p.=)
n.298-43C>T (p.=)
c.457-43C>T (p.=)
c.469-43C>T (p.=)
n.29C>T
dbSNP ExAC gnomAD
11g.67490281C>ACA6140898AIP,MIR6752c.646-35C>A (p.=)
n.298-35C>A (p.=)
c.457-35C>A (p.=)
c.469-35C>A (p.=)
n.37C>A
dbSNP ExAC gnomAD
11g.67490281C>TCA475509332AIP,MIR6752c.646-35C>T (p.=)
n.298-35C>T (p.=)
c.457-35C>T (p.=)
c.469-35C>T (p.=)
n.37C>T
11g.67490290C>GCA6140899AIP,MIR6752c.646-26C>G (p.=)
n.298-26C>G (p.=)
c.457-26C>G (p.=)
c.469-26C>G (p.=)
n.46C>G
dbSNP ExAC gnomAD
11g.67490291C>TCA600236199AIP,MIR6752c.646-25C>T (p.=)
n.298-25C>T (p.=)
c.457-25C>T (p.=)
c.469-25C>T (p.=)
n.47C>T
gnomAD
11g.67490292C>GCA6140901AIP,MIR6752c.646-24C>G (p.=)
n.298-24C>G (p.=)
c.457-24C>G (p.=)
c.469-24C>G (p.=)
n.48C>G
dbSNP ExAC gnomAD
11g.67490292C>TCA6140900AIP,MIR6752c.646-24C>T (p.=)
n.298-24C>T (p.=)
c.457-24C>T (p.=)
c.469-24C>T (p.=)
n.48C>T
dbSNP ExAC gnomAD
11g.67490293G>ACA6140902AIP,MIR6752c.646-23G>A (p.=)
n.298-23G>A (p.=)
c.457-23G>A (p.=)
c.469-23G>A (p.=)
n.49G>A
dbSNP ExAC gnomAD
11g.67490296C>GCA6140903AIP,MIR6752c.646-20C>G (p.=)
n.298-20C>G (p.=)
c.457-20C>G (p.=)
c.469-20C>G (p.=)
n.52C>G
dbSNP ExAC gnomAD
11g.67490298C>TCA224165170AIP,MIR6752c.646-18C>T (p.=)
n.298-18C>T (p.=)
c.457-18C>T (p.=)
c.469-18C>T (p.=)
n.54C>T
dbSNP gnomAD
11g.67490299delCA6140904AIP,MIR6752c.646-17del (p.=)
n.298-17del (p.=)
c.457-17del (p.=)
c.469-17del (p.=)
n.55del
dbSNP ExAC gnomAD
11g.67490304C>TCA6140905AIP,MIR6752c.646-12C>T (p.=)
n.298-12C>T (p.=)
c.457-12C>T (p.=)
c.469-12C>T (p.=)
n.60C>T
dbSNP ExAC gnomAD
11g.67490314A>CCA381551459AIP,MIR6752c.646-2A>C (p.=)
n.298-2A>C (p.=)
c.457-2A>C (p.=)
c.469-2A>C (p.=)
n.70A>C
11g.67490314A>GCA381551460AIP,MIR6752c.646-2A>G (p.=)
n.298-2A>G (p.=)
c.457-2A>G (p.=)
c.469-2A>G (p.=)
n.70A>G
11g.67490314A>TCA381551461AIP,MIR6752c.646-2A>T (p.=)
n.298-2A>T (p.=)
c.457-2A>T (p.=)
c.469-2A>T (p.=)
n.70A>T
11g.67490315G>ACA381551462AIP,MIR6752c.646-1G>A (p.=)
n.298-1G>A (p.=)
c.457-1G>A (p.=)
c.469-1G>A (p.=)
n.71G>A
11g.67490315G>CCA381551463AIP,MIR6752c.646-1G>C (p.=)
n.298-1G>C (p.=)
c.457-1G>C (p.=)
c.469-1G>C (p.=)
n.71G>C
11g.67490315G>TCA381551464AIP,MIR6752c.646-1G>T (p.=)
n.298-1G>T (p.=)
c.457-1G>T (p.=)
c.469-1G>T (p.=)
n.71G>T
11g.67490316G>ACA381551465AIPc.646G>A (p.Glu216Lys)
n.298G>A (p.Glu100Lys)
c.457G>A (p.Glu153Lys)
c.469G>A (p.Glu157Lys)
11g.67490316G>CCA381551466AIPc.646G>C (p.Glu216Gln)
n.298G>C (p.Glu100Gln)
c.457G>C (p.Glu153Gln)
c.469G>C (p.Glu157Gln)
11g.67490316G>TCA344142AIPc.646G>T (p.Glu216Ter)
n.298G>T (p.Glu100Ter)
c.457G>T (p.Glu153Ter)
c.469G>T (p.Glu157Ter)
ClinVar dbSNP

Number of alleles fetched