Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154899869_154902170dupCA1139771163F8c.6001_6273+2dup
c.5896_6168+2dup
Xg.154902120G>ACA255197F8c.6046C>T (p.Arg2016Trp)
c.5941C>T (p.Arg1981Trp)
 ClinVar dbSNP gnomAD v4
Xg.154902120G>CCA414904955F8c.6046C>G (p.Arg2016Gly)
c.5941C>G (p.Arg1981Gly)
Xg.154902120G=CA2466827646F8c.6046C= (p.Arg2016=)
c.5941C= (p.Arg1981=)
Xg.154902120G>TCA519355956F8c.6046C>A (p.Arg2016=)
c.5941C>A (p.Arg1981=)
Xg.154902121C>ACA414904961F8c.6045G>T (p.Trp2015Cys)
c.5940G>T (p.Trp1980Cys)
 dbSNP
Xg.154902121C=CA2466827647F8c.6045G= (p.Trp2015=)
c.5940G= (p.Trp1980=)
Xg.154902121C>GCA414904960F8c.6045G>C (p.Trp2015Cys)
c.5940G>C (p.Trp1980Cys)
Xg.154902121C>TCA414904959F8c.6045G>A (p.Trp2015Ter)
c.5940G>A (p.Trp1980Ter)
Xg.154902122C>ACA414904963F8c.6044G>T (p.Trp2015Leu)
c.5939G>T (p.Trp1980Leu)
Xg.154902122C=CA2466827648F8c.6044G= (p.Trp2015=)
c.5939G= (p.Trp1980=)
Xg.154902122C>GCA414904964F8c.6044G>C (p.Trp2015Ser)
c.5939G>C (p.Trp1980Ser)
Xg.154902122C>TCA414904965F8c.6044G>A (p.Trp2015Ter)
c.5939G>A (p.Trp1980Ter)
 dbSNP
Xg.154902123A=CA2466827649F8c.6043T= (p.Trp2015=)
c.5938T= (p.Trp1980=)
Xg.154902123A>CCA414904967F8c.6043T>G (p.Trp2015Gly)
c.5938T>G (p.Trp1980Gly)
Xg.154902123A>GCA414904969F8c.6043T>C (p.Trp2015Arg)
c.5938T>C (p.Trp1980Arg)
 ClinVar dbSNP
Xg.154902123A>TCA414904970F8c.6043T>A (p.Trp2015Arg)
c.5938T>A (p.Trp1980Arg)
Xg.154902124A>CCA414904972F8c.6042T>G (p.Ile2014Met)
c.5937T>G (p.Ile1979Met)
Xg.154902124A>GCA519355957F8c.6042T>C (p.Ile2014=)
c.5937T>C (p.Ile1979=)
Xg.154902124A>TCA519355958F8c.6042T>A (p.Ile2014=)
c.5937T>A (p.Ile1979=)
Xg.154902125A>CCA414904976F8c.6041T>G (p.Ile2014Ser)
c.5936T>G (p.Ile1979Ser)
Xg.154902125A>GCA414904978F8c.6041T>C (p.Ile2014Thr)
c.5936T>C (p.Ile1979Thr)
Xg.154902125A>TCA414904979F8c.6041T>A (p.Ile2014Asn)
c.5936T>A (p.Ile1979Asn)
Xg.154902128_154902148delCA2695237888F8c.6021_6041del (p.Met2007_Gly2013del)
c.5916_5936del (p.Met1972_Gly1978del)
Xg.154902126T>ACA414904985F8c.6040A>T (p.Ile2014Phe)
c.5935A>T (p.Ile1979Phe)
Xg.154902126T>CCA414904982F8c.6040A>G (p.Ile2014Val)
c.5935A>G (p.Ile1979Val)
Xg.154902126T>GCA414904981F8c.6040A>C (p.Ile2014Leu)
c.5935A>C (p.Ile1979Leu)
Xg.154902127T>ACA519355959F8c.6039A>T (p.Gly2013=)
c.5934A>T (p.Gly1978=)
Xg.154902127T>CCA519355960F8c.6039A>G (p.Gly2013=)
c.5934A>G (p.Gly1978=)
Xg.154902127T>GCA519355961F8c.6039A>C (p.Gly2013=)
c.5934A>C (p.Gly1978=)
Xg.154902128C>ACA414904987F8c.6038G>T (p.Gly2013Val)
c.5933G>T (p.Gly1978Val)
Xg.154902128C>GCA414904988F8c.6038G>C (p.Gly2013Ala)
c.5933G>C (p.Gly1978Ala)
Xg.154902128C>TCA414904993F8c.6038G>A (p.Gly2013Glu)
c.5933G>A (p.Gly1978Glu)
Xg.154902129C>ACA414904996F8c.6037G>T (p.Gly2013Ter)
c.5932G>T (p.Gly1978Ter)
Xg.154902129C>GCA414904997F8c.6037G>C (p.Gly2013Arg)
c.5932G>C (p.Gly1978Arg)
Xg.154902129C>TCA414904999F8c.6037G>A (p.Gly2013Arg)
c.5932G>A (p.Gly1978Arg)
Xg.154902130A>CCA519355963F8c.6036T>G (p.Ala2012=)
c.5931T>G (p.Ala1977=)
Xg.154902130A>GCA519355964F8c.6036T>C (p.Ala2012=)
c.5931T>C (p.Ala1977=)
Xg.154902130A>TCA519355965F8c.6036T>A (p.Ala2012=)
c.5931T>A (p.Ala1977=)
Xg.154902131G>ACA414905001F8c.6035C>T (p.Ala2012Val)
c.5930C>T (p.Ala1977Val)
Xg.154902131G>CCA414905003F8c.6035C>G (p.Ala2012Gly)
c.5930C>G (p.Ala1977Gly)
Xg.154902131G>TCA414905005F8c.6035C>A (p.Ala2012Asp)
c.5930C>A (p.Ala1977Asp)
Xg.154902132C>ACA414905008F8c.6034G>T (p.Ala2012Ser)
c.5929G>T (p.Ala1977Ser)
Xg.154902132C>GCA414905011F8c.6034G>C (p.Ala2012Pro)
c.5929G>C (p.Ala1977Pro)
Xg.154902132C>TCA414905016F8c.6034G>A (p.Ala2012Thr)
c.5929G>A (p.Ala1977Thr)
Xg.154902133T>ACA414905017F8c.6033A>T (p.Lys2011Asn)
c.5928A>T (p.Lys1976Asn)
Xg.154902133T>CCA519355966F8c.6033A>G (p.Lys2011=)
c.5928A>G (p.Lys1976=)
Xg.154902133T>GCA414905018F8c.6033A>C (p.Lys2011Asn)
c.5928A>C (p.Lys1976Asn)
Xg.154902134T>ACA414905021F8c.6032A>T (p.Lys2011Ile)
c.5927A>T (p.Lys1976Ile)
Xg.154902134T>CCA414905023F8c.6032A>G (p.Lys2011Arg)
c.5927A>G (p.Lys1976Arg)

Number of alleles fetched