Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154899869_154902170dupCA1139771163F8c.6001_6273+2dup
c.5896_6168+2dup
Xg.154902045_154902057delCA2695237861F8c.6115_6115+12del
c.6010_6010+12del
Xg.154902053T>ACA414904476F8c.6113A>T (p.Asn2038Ile)
c.6008A>T (p.Asn2003Ile)
Xg.154902053T>CCA255198F8c.6113A>G (p.Asn2038Ser)
c.6008A>G (p.Asn2003Ser)
ClinVar dbSNP
Xg.154902053T>GCA414904480F8c.6113A>C (p.Asn2038Thr)
c.6008A>C (p.Asn2003Thr)
gnomAD v4
Xg.154902053T=CA2466827620F8c.6113A= (p.Asn2038=)
c.6008A= (p.Asn2003=)
Xg.154902054T>ACA414904483F8c.6112A>T (p.Asn2038Tyr)
c.6007A>T (p.Asn2003Tyr)
Xg.154902054T>CCA414904497F8c.6112A>G (p.Asn2038Asp)
c.6007A>G (p.Asn2003Asp)
gnomAD v4
Xg.154902054T>GCA414904501F8c.6112A>C (p.Asn2038His)
c.6007A>C (p.Asn2003His)
Xg.154902055G>ACA519355724F8c.6111C>T (p.Ser2037=)
c.6006C>T (p.Ser2002=)
dbSNP gnomAD v3 gnomAD v4
Xg.154902055G>CCA414904503F8c.6111C>G (p.Ser2037Arg)
c.6006C>G (p.Ser2002Arg)
Xg.154902055G=CA2466827621F8c.6111C= (p.Ser2037=)
c.6006C= (p.Ser2002=)
Xg.154902055G>TCA414904504F8c.6111C>A (p.Ser2037Arg)
c.6006C>A (p.Ser2002Arg)
gnomAD v4
Xg.154902056C>ACA414904511F8c.6110G>T (p.Ser2037Ile)
c.6005G>T (p.Ser2002Ile)
Xg.154902056C>GCA414904507F8c.6110G>C (p.Ser2037Thr)
c.6005G>C (p.Ser2002Thr)
Xg.154902056C>TCA414904505F8c.6110G>A (p.Ser2037Asn)
c.6005G>A (p.Ser2002Asn)
gnomAD v4
Xg.154902057T>ACA414904512F8c.6109A>T (p.Ser2037Cys)
c.6004A>T (p.Ser2002Cys)
Xg.154902057T>CCA414904513F8c.6109A>G (p.Ser2037Gly)
c.6004A>G (p.Ser2002Gly)
dbSNP gnomAD v2 gnomAD v4
Xg.154902057T>GCA414904514F8c.6109A>C (p.Ser2037Arg)
c.6004A>C (p.Ser2002Arg)
Xg.154902057T=CA2466827622F8c.6109A= (p.Ser2037=)
c.6004A= (p.Ser2002=)
Xg.154902058G>ACA519355736F8c.6108C>T (p.Tyr2036=)
c.6003C>T (p.Tyr2001=)
gnomAD v4
Xg.154902058G>CCA414904516F8c.6108C>G (p.Tyr2036Ter)
c.6003C>G (p.Tyr2001Ter)
Xg.154902058G>TCA414904519F8c.6108C>A (p.Tyr2036Ter)
c.6003C>A (p.Tyr2001Ter)
gnomAD v4 COSMIC COSMIC
Xg.154902059T>ACA414904523F8c.6107A>T (p.Tyr2036Phe)
c.6002A>T (p.Tyr2001Phe)
Xg.154902059T>CCA414904526F8c.6107A>G (p.Tyr2036Cys)
c.6002A>G (p.Tyr2001Cys)
Xg.154902059T>GCA414904535F8c.6107A>C (p.Tyr2036Ser)
c.6002A>C (p.Tyr2001Ser)
Xg.154902060A>CCA414904540F8c.6106T>G (p.Tyr2036Asp)
c.6001T>G (p.Tyr2001Asp)
Xg.154902060A>GCA414904543F8c.6106T>C (p.Tyr2036His)
c.6001T>C (p.Tyr2001His)
Xg.154902060A>TCA414904546F8c.6106T>A (p.Tyr2036Asn)
c.6001T>A (p.Tyr2001Asn)
gnomAD v4
Xg.154902061C>ACA519355746F8c.6105G>T (p.Val2035=)
c.6000G>T (p.Val2000=)
Xg.154902061C>GCA519355748F8c.6105G>C (p.Val2035=)
c.6000G>C (p.Val2000=)
Xg.154902061C>TCA519355750F8c.6105G>A (p.Val2035=)
c.6000G>A (p.Val2000=)
gnomAD v4
Xg.154902062A=CA2466827623F8c.6104T= (p.Val2035=)
c.5999T= (p.Val2000=)
Xg.154902062A>CCA414904562F8c.6104T>G (p.Val2035Gly)
c.5999T>G (p.Val2000Gly)
dbSNP
Xg.154902062A>GCA414904555F8c.6104T>C (p.Val2035Ala)
c.5999T>C (p.Val2000Ala)
ClinVar dbSNP gnomAD v4
Xg.154902062A>TCA414904559F8c.6104T>A (p.Val2035Glu)
c.5999T>A (p.Val2000Glu)
Xg.154902063C>ACA414904570F8c.6103G>T (p.Val2035Leu)
c.5998G>T (p.Val2000Leu)
Xg.154902063C=CA2466827624F8c.6103G= (p.Val2035=)
c.5998G= (p.Val2000=)
Xg.154902063C>GCA414904573F8c.6103G>C (p.Val2035Leu)
c.5998G>C (p.Val2000Leu)
Xg.154902063C>TCA16609159F8c.6103G>A (p.Val2035Met)
c.5998G>A (p.Val2000Met)
ClinVar dbSNP
Xg.154902064delCA2695237872F8c.6103del (p.Val2035CysfsTer?)
c.5998del (p.Val2000CysfsTer?)
Xg.154902064C>ACA519355759F8c.6102G>T (p.Leu2034=)
c.5997G>T (p.Leu1999=)
Xg.154902064C>GCA519355761F8c.6102G>C (p.Leu2034=)
c.5997G>C (p.Leu1999=)
Xg.154902064C>TCA519355763F8c.6102G>A (p.Leu2034=)
c.5997G>A (p.Leu1999=)
Xg.154902065A>CCA414904577F8c.6101T>G (p.Leu2034Arg)
c.5996T>G (p.Leu1999Arg)
Xg.154902065A>GCA414904580F8c.6101T>C (p.Leu2034Pro)
c.5996T>C (p.Leu1999Pro)
Xg.154902065A>TCA414904581F8c.6101T>A (p.Leu2034Gln)
c.5996T>A (p.Leu1999Gln)
Xg.154902066G>ACA519355770F8c.6100C>T (p.Leu2034=)
c.5995C>T (p.Leu1999=)
Xg.154902066G>CCA414904584F8c.6100C>G (p.Leu2034Val)
c.5995C>G (p.Leu1999Val)
Xg.154902066G>TCA414904588F8c.6100C>A (p.Leu2034Met)
c.5995C>A (p.Leu1999Met)

Number of alleles fetched