Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154903904A=CA2466828126F8c.5998+2T= (n.5998+2T=)
c.5893+2T= (n.5893+2T=)
Xg.154903904A>CCA414905388F8c.5998+2T>G (n.5998+2T>G)
c.5893+2T>G (n.5893+2T>G)
Xg.154903904A>GCA414905382F8c.5998+2T>C (n.5998+2T>C)
c.5893+2T>C (n.5893+2T>C)
dbSNP
Xg.154903904A>TCA414905379F8c.5998+2T>A (n.5998+2T>A)
c.5893+2T>A (n.5893+2T>A)
Xg.154903905C>ACA414905391F8c.5998+1G>T (n.5998+1G>T)
c.5893+1G>T (n.5893+1G>T)
Xg.154903905C=CA2466828127F8c.5998+1G= (n.5998+1G=)
c.5893+1G= (n.5893+1G=)
Xg.154903905C>GCA414905392F8c.5998+1G>C (n.5998+1G>C)
c.5893+1G>C (n.5893+1G>C)
dbSNP
Xg.154903905C>TCA414905395F8c.5998+1G>A (n.5998+1G>A)
c.5893+1G>A (n.5893+1G>A)
Xg.154903906C>ACA414905399F8c.5998G>T (p.Gly2000Cys)
c.5893G>T (p.Gly1965Cys)
Xg.154903906C=CA2466828128F8c.5998G= (p.Gly2000=)
c.5893G= (p.Gly1965=)
Xg.154903906C>GCA414905403F8c.5998G>C (p.Gly2000Arg)
c.5893G>C (p.Gly1965Arg)
dbSNP
Xg.154903906C>TCA414905404F8c.5998G>A (p.Gly2000Ser)
c.5893G>A (p.Gly1965Ser)
Xg.154903907T>ACA519356062F8c.5997A>T (p.Pro1999=)
c.5892A>T (p.Pro1964=)
Xg.154903907T>CCA519356065F8c.5997A>G (p.Pro1999=)
c.5892A>G (p.Pro1964=)
Xg.154903907T>GCA519356063F8c.5997A>C (p.Pro1999=)
c.5892A>C (p.Pro1964=)
Xg.154903908G>ACA414905407F8c.5996C>T (p.Pro1999Leu)
c.5891C>T (p.Pro1964Leu)
Xg.154903908G>CCA414905412F8c.5996C>G (p.Pro1999Arg)
c.5891C>G (p.Pro1964Arg)
Xg.154903908G>TCA414905409F8c.5996C>A (p.Pro1999Gln)
c.5891C>A (p.Pro1964Gln)
Xg.154903909G>ACA414905415F8c.5995C>T (p.Pro1999Ser)
c.5890C>T (p.Pro1964Ser)
Xg.154903909G>CCA414905420F8c.5995C>G (p.Pro1999Ala)
c.5890C>G (p.Pro1964Ala)
Xg.154903909G>TCA414905423F8c.5995C>A (p.Pro1999Thr)
c.5890C>A (p.Pro1964Thr)
Xg.154903910delCA2580101787F8c.5994del (p.Pro1999GlnfsTer?)
c.5889del (p.Pro1964GlnfsTer?)
ClinVar
Xg.154903910A=CA2466828129F8c.5994T= (p.Tyr1998=)
c.5889T= (p.Tyr1963=)
Xg.154903910A>CCA414905425F8c.5994T>G (p.Tyr1998Ter)
c.5889T>G (p.Tyr1963Ter)
Xg.154903910A>GCA519356068F8c.5994T>C (p.Tyr1998=)
c.5889T>C (p.Tyr1963=)
Xg.154903910A>TCA414905426F8c.5994T>A (p.Tyr1998Ter)
c.5889T>A (p.Tyr1963Ter)
dbSNP
Xg.154903911T>ACA414905427F8c.5993A>T (p.Tyr1998Phe)
c.5888A>T (p.Tyr1963Phe)
ClinVar dbSNP gnomAD v4
Xg.154903911T>CCA414905428F8c.5993A>G (p.Tyr1998Cys)
c.5888A>G (p.Tyr1963Cys)
dbSNP
Xg.154903911T>GCA414905429F8c.5993A>C (p.Tyr1998Ser)
c.5888A>C (p.Tyr1963Ser)
Xg.154903911T=CA2466828130F8c.5993A= (p.Tyr1998=)
c.5888A= (p.Tyr1963=)
Xg.154903912A>CCA414905430F8c.5992T>G (p.Tyr1998Asp)
c.5887T>G (p.Tyr1963Asp)
gnomAD v4
Xg.154903912A>GCA414905432F8c.5992T>C (p.Tyr1998His)
c.5887T>C (p.Tyr1963His)
Xg.154903912A>TCA414905434F8c.5992T>A (p.Tyr1998Asn)
c.5887T>A (p.Tyr1963Asn)
Xg.154903915_154903916delCA2695237917F8c.5991_5992del (p.Tyr1998SerfsTer5)
c.5886_5887del (p.Tyr1963SerfsTer5)
Xg.154903913G>ACA519356074F8c.5991C>T (p.Leu1997=)
c.5886C>T (p.Leu1962=)
COSMIC COSMIC
Xg.154903913G>CCA519356075F8c.5991C>G (p.Leu1997=)
c.5886C>G (p.Leu1962=)
Xg.154903913G>TCA519356076F8c.5991C>A (p.Leu1997=)
c.5886C>A (p.Leu1962=)
Xg.154903914A>CCA414905444F8c.5990T>G (p.Leu1997Arg)
c.5885T>G (p.Leu1962Arg)
Xg.154903914A>GCA414905455F8c.5990T>C (p.Leu1997Pro)
c.5885T>C (p.Leu1962Pro)
Xg.154903914A>TCA414905447F8c.5990T>A (p.Leu1997His)
c.5885T>A (p.Leu1962His)
Xg.154903915G>ACA414905457F8c.5989C>T (p.Leu1997Phe)
c.5884C>T (p.Leu1962Phe)
Xg.154903915G>CCA414905458F8c.5989C>G (p.Leu1997Val)
c.5884C>G (p.Leu1962Val)
Xg.154903915G=CA2466828131F8c.5989C= (p.Leu1997=)
c.5884C= (p.Leu1962=)
Xg.154903915G>TCA414905462F8c.5989C>A (p.Leu1997Ile)
c.5884C>A (p.Leu1962Ile)
dbSNP
Xg.154903916A>CCA414905464F8c.5988T>G (p.Asn1996Lys)
c.5883T>G (p.Asn1961Lys)
Xg.154903916A>GCA519356082F8c.5988T>C (p.Asn1996=)
c.5883T>C (p.Asn1961=)
Xg.154903916A>TCA414905465F8c.5988T>A (p.Asn1996Lys)
c.5883T>A (p.Asn1961Lys)
Xg.154903916dupCA2466828132F8c.5988dup (p.Leu1997SerfsTer7)
c.5883dup (p.Leu1962SerfsTer7)
dbSNP
Xg.154903919_154903931delCA2695237919F8c.5976_5988del (p.Met1992IlefsTer?)
c.5871_5883del (p.Met1957IlefsTer?)
Xg.154903917T>ACA414905469F8c.5987A>T (p.Asn1996Ile)
c.5882A>T (p.Asn1961Ile)

Number of alleles fetched