Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.27173243G>ACA373125147TEKc.782G>A (p.Gly261Asp)
c.341G>A (p.Gly114Asp)
c.470G>A (p.Gly157Asp)
gnomAD v4
9g.27173243G>CCA373125150TEKc.782G>C (p.Gly261Ala)
c.341G>C (p.Gly114Ala)
c.470G>C (p.Gly157Ala)
9g.27173243G>TCA373125153TEKc.782G>T (p.Gly261Val)
c.341G>T (p.Gly114Val)
c.470G>T (p.Gly157Val)
9g.27173244C>ACA464168634TEKc.783C>A (p.Gly261=)
c.342C>A (p.Gly114=)
c.471C>A (p.Gly157=)
9g.27173244C=CA1842021625TEKc.783C= (p.Gly261=)
c.342C= (p.Gly114=)
c.471C= (p.Gly157=)
9g.27173244C>GCA464168635TEKc.783C>G (p.Gly261=)
c.342C>G (p.Gly114=)
c.471C>G (p.Gly157=)
9g.27173244C>TCA5016021TEKc.783C>T (p.Gly261=)
c.342C>T (p.Gly114=)
c.471C>T (p.Gly157=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173245A>CCA464168636TEKc.784A>C (p.Arg262=)
c.343A>C (p.Arg115=)
c.472A>C (p.Arg158=)
9g.27173245A>GCA373125159TEKc.784A>G (p.Arg262Gly)
c.343A>G (p.Arg115Gly)
c.472A>G (p.Arg158Gly)
9g.27173245A>TCA373125161TEKc.784A>T (p.Arg262Ter)
c.343A>T (p.Arg115Ter)
c.472A>T (p.Arg158Ter)
9g.27173246G>ACA373125165TEKc.785G>A (p.Arg262Lys)
c.344G>A (p.Arg115Lys)
c.473G>A (p.Arg158Lys)
9g.27173246G>CCA373125171TEKc.785G>C (p.Arg262Thr)
c.344G>C (p.Arg115Thr)
c.473G>C (p.Arg158Thr)
9g.27173246G>TCA373125168TEKc.785G>T (p.Arg262Ile)
c.344G>T (p.Arg115Ile)
c.473G>T (p.Arg158Ile)
9g.27173247A>CCA373125177TEKc.786A>C (p.Arg262Ser)
c.345A>C (p.Arg115Ser)
c.474A>C (p.Arg158Ser)
9g.27173247A>GCA464168639TEKc.786A>G (p.Arg262=)
c.345A>G (p.Arg115=)
c.474A>G (p.Arg158=)
9g.27173247A>TCA373125179TEKc.786A>T (p.Arg262Ser)
c.345A>T (p.Arg115Ser)
c.474A>T (p.Arg158Ser)
9g.27173248A=CA1842021629TEKc.787A= (p.Thr263=)
c.346A= (p.Thr116=)
c.475A= (p.Thr159=)
9g.27173248A>CCA373125183TEKc.787A>C (p.Thr263Pro)
c.346A>C (p.Thr116Pro)
c.475A>C (p.Thr159Pro)
9g.27173248A>GCA5016022TEKc.787A>G (p.Thr263Ala)
c.346A>G (p.Thr116Ala)
c.475A>G (p.Thr159Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173248A>TCA373125187TEKc.787A>T (p.Thr263Ser)
c.346A>T (p.Thr116Ser)
c.475A>T (p.Thr159Ser)
9g.27173249C>ACA373125196TEKc.788C>A (p.Thr263Asn)
c.347C>A (p.Thr116Asn)
c.476C>A (p.Thr159Asn)
9g.27173249C>GCA373125199TEKc.788C>G (p.Thr263Ser)
c.347C>G (p.Thr116Ser)
c.476C>G (p.Thr159Ser)
9g.27173249C>TCA373125202TEKc.788C>T (p.Thr263Ile)
c.347C>T (p.Thr116Ile)
c.476C>T (p.Thr159Ile)
gnomAD v4
9g.27173250T>ACA464168641TEKc.789T>A (p.Thr263=)
c.348T>A (p.Thr116=)
c.477T>A (p.Thr159=)
9g.27173250T>CCA464168642TEKc.789T>C (p.Thr263=)
c.348T>C (p.Thr116=)
c.477T>C (p.Thr159=)
9g.27173250T>GCA464168643TEKc.789T>G (p.Thr263=)
c.348T>G (p.Thr116=)
c.477T>G (p.Thr159=)
9g.27173251T>ACA373125206TEKc.790T>A (p.Cys264Ser)
c.349T>A (p.Cys117Ser)
c.478T>A (p.Cys160Ser)
9g.27173251T>CCA373125210TEKc.790T>C (p.Cys264Arg)
c.349T>C (p.Cys117Arg)
c.478T>C (p.Cys160Arg)
9g.27173251T>GCA373125211TEKc.790T>G (p.Cys264Gly)
c.349T>G (p.Cys117Gly)
c.478T>G (p.Cys160Gly)
9g.27173252G>ACA373125217TEKc.791G>A (p.Cys264Tyr)
c.350G>A (p.Cys117Tyr)
c.479G>A (p.Cys160Tyr)
9g.27173252G>CCA373125222TEKc.791G>C (p.Cys264Ser)
c.350G>C (p.Cys117Ser)
c.479G>C (p.Cys160Ser)
9g.27173252G>TCA373125214TEKc.791G>T (p.Cys264Phe)
c.350G>T (p.Cys117Phe)
c.479G>T (p.Cys160Phe)
9g.27173253T>ACA373125229TEKc.792T>A (p.Cys264Ter)
c.351T>A (p.Cys117Ter)
c.480T>A (p.Cys160Ter)
gnomAD v4
9g.27173253T>CCA464168646TEKc.792T>C (p.Cys264=)
c.351T>C (p.Cys117=)
c.480T>C (p.Cys160=)
9g.27173253T>GCA373125226TEKc.792T>G (p.Cys264Trp)
c.351T>G (p.Cys117Trp)
c.480T>G (p.Cys160Trp)
9g.27173254A>CCA373125241TEKc.793A>C (p.Lys265Gln)
c.352A>C (p.Lys118Gln)
c.481A>C (p.Lys161Gln)
9g.27173254A>GCA373125232TEKc.793A>G (p.Lys265Glu)
c.352A>G (p.Lys118Glu)
c.481A>G (p.Lys161Glu)
gnomAD v4
9g.27173254A>TCA373125239TEKc.793A>T (p.Lys265Ter)
c.352A>T (p.Lys118Ter)
c.481A>T (p.Lys161Ter)
9g.27173255A>CCA373125244TEKc.794A>C (p.Lys265Thr)
c.353A>C (p.Lys118Thr)
c.482A>C (p.Lys161Thr)
9g.27173255A>GCA373125246TEKc.794A>G (p.Lys265Arg)
c.353A>G (p.Lys118Arg)
c.482A>G (p.Lys161Arg)
9g.27173255A>TCA373125248TEKc.794A>T (p.Lys265Ile)
c.353A>T (p.Lys118Ile)
c.482A>T (p.Lys161Ile)
9g.27173256A=CA1842021633TEKc.795A= (p.Lys265=)
c.354A= (p.Lys118=)
c.483A= (p.Lys161=)
9g.27173256A>CCA373125250TEKc.795A>C (p.Lys265Asn)
c.354A>C (p.Lys118Asn)
c.483A>C (p.Lys161Asn)
9g.27173256A>GCA5016023TEKc.795A>G (p.Lys265=)
c.354A>G (p.Lys118=)
c.483A>G (p.Lys161=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.27173256A>TCA373125257TEKc.795A>T (p.Lys265Asn)
c.354A>T (p.Lys118Asn)
c.483A>T (p.Lys161Asn)
9g.27173257G>ACA373125261TEKc.796G>A (p.Glu266Lys)
c.355G>A (p.Glu119Lys)
c.484G>A (p.Glu162Lys)
9g.27173257G>CCA373125264TEKc.796G>C (p.Glu266Gln)
c.355G>C (p.Glu119Gln)
c.484G>C (p.Glu162Gln)
dbSNP
9g.27173257G=CA1842021639TEKc.796G= (p.Glu266=)
c.355G= (p.Glu119=)
c.484G= (p.Glu162=)
9g.27173257G>TCA373125267TEKc.796G>T (p.Glu266Ter)
c.355G>T (p.Glu119Ter)
c.484G>T (p.Glu162Ter)
9g.27173258A>CCA373125276TEKc.797A>C (p.Glu266Ala)
c.356A>C (p.Glu119Ala)
c.485A>C (p.Glu162Ala)

Number of alleles fetched