Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.55021084C>ACA413295420ALAS2c.390G>T (p.Met130Ile)
c.279G>T (p.Met93Ile)
c.305-580G>T (n.305-580G>T)
c.606G>T (p.Met202Ile)
c.495G>T (p.Met165Ile)
c.567G>T (p.Met189Ile)
c.461G>T
n.356-580G>T
n.350G>T
n.546G>T
c.678G>T (p.Met226Ile)
c.-223-580G>T (n.-223-580G>T)
Xg.55021084C=CA2430392615ALAS2c.390G= (p.Met130=)
c.279G= (p.Met93=)
c.305-580G= (n.305-580G=)
c.606G= (p.Met202=)
c.495G= (p.Met165=)
c.567G= (p.Met189=)
c.461G=
n.356-580G=
n.350G=
n.546G=
c.678G= (p.Met226=)
c.-223-580G= (n.-223-580G=)
Xg.55021084C>GCA413295421ALAS2c.390G>C (p.Met130Ile)
c.279G>C (p.Met93Ile)
c.305-580G>C (n.305-580G>C)
c.606G>C (p.Met202Ile)
c.495G>C (p.Met165Ile)
c.567G>C (p.Met189Ile)
c.461G>C
n.356-580G>C
n.350G>C
n.546G>C
c.678G>C (p.Met226Ile)
c.-223-580G>C (n.-223-580G>C)
Xg.55021084C>TCA322955ALAS2c.390G>A (p.Met130Ile)
c.279G>A (p.Met93Ile)
c.305-580G>A (n.305-580G>A)
c.606G>A (p.Met202Ile)
c.495G>A (p.Met165Ile)
c.567G>A (p.Met189Ile)
c.461G>A
n.356-580G>A
n.350G>A
n.546G>A
c.678G>A (p.Met226Ile)
c.-223-580G>A (n.-223-580G>A)
 ClinVar dbSNP
Xg.55021085A>CCA413295424ALAS2c.389T>G (p.Met130Arg)
c.278T>G (p.Met93Arg)
c.305-581T>G (n.305-581T>G)
c.605T>G (p.Met202Arg)
c.494T>G (p.Met165Arg)
c.566T>G (p.Met189Arg)
c.460T>G
n.356-581T>G
n.349T>G
n.545T>G
c.677T>G (p.Met226Arg)
c.-223-581T>G (n.-223-581T>G)
Xg.55021085A>GCA413295422ALAS2c.389T>C (p.Met130Thr)
c.278T>C (p.Met93Thr)
c.305-581T>C (n.305-581T>C)
c.605T>C (p.Met202Thr)
c.494T>C (p.Met165Thr)
c.566T>C (p.Met189Thr)
c.460T>C
n.356-581T>C
n.349T>C
n.545T>C
c.677T>C (p.Met226Thr)
c.-223-581T>C (n.-223-581T>C)
Xg.55021085A>TCA413295423ALAS2c.389T>A (p.Met130Lys)
c.278T>A (p.Met93Lys)
c.305-581T>A (n.305-581T>A)
c.605T>A (p.Met202Lys)
c.494T>A (p.Met165Lys)
c.566T>A (p.Met189Lys)
c.460T>A
n.356-581T>A
n.349T>A
n.545T>A
c.677T>A (p.Met226Lys)
c.-223-581T>A (n.-223-581T>A)
Xg.55021086T>ACA413295425ALAS2c.388A>T (p.Met130Leu)
c.277A>T (p.Met93Leu)
c.305-582A>T (n.305-582A>T)
c.604A>T (p.Met202Leu)
c.493A>T (p.Met165Leu)
c.565A>T (p.Met189Leu)
c.459A>T
n.356-582A>T
n.348A>T
n.544A>T
c.676A>T (p.Met226Leu)
c.-223-582A>T (n.-223-582A>T)
Xg.55021086T>CCA413295426ALAS2c.388A>G (p.Met130Val)
c.277A>G (p.Met93Val)
c.305-582A>G (n.305-582A>G)
c.604A>G (p.Met202Val)
c.493A>G (p.Met165Val)
c.565A>G (p.Met189Val)
c.459A>G
n.356-582A>G
n.348A>G
n.544A>G
c.676A>G (p.Met226Val)
c.-223-582A>G (n.-223-582A>G)
Xg.55021086T>GCA413295427ALAS2c.388A>C (p.Met130Leu)
c.277A>C (p.Met93Leu)
c.305-582A>C (n.305-582A>C)
c.604A>C (p.Met202Leu)
c.493A>C (p.Met165Leu)
c.565A>C (p.Met189Leu)
c.459A>C
n.356-582A>C
n.348A>C
n.544A>C
c.676A>C (p.Met226Leu)
c.-223-582A>C (n.-223-582A>C)
Xg.55021087G>ACA516583032ALAS2c.387C>T (p.Gly129=)
c.276C>T (p.Gly92=)
c.305-583C>T (n.305-583C>T)
c.603C>T (p.Gly201=)
c.492C>T (p.Gly164=)
c.564C>T (p.Gly188=)
c.458C>T
n.356-583C>T
n.347C>T
n.543C>T
c.675C>T (p.Gly225=)
c.-223-583C>T (n.-223-583C>T)
Xg.55021087G>CCA516583033ALAS2c.387C>G (p.Gly129=)
c.276C>G (p.Gly92=)
c.305-583C>G (n.305-583C>G)
c.603C>G (p.Gly201=)
c.492C>G (p.Gly164=)
c.564C>G (p.Gly188=)
c.458C>G
n.356-583C>G
n.347C>G
n.543C>G
c.675C>G (p.Gly225=)
c.-223-583C>G (n.-223-583C>G)
Xg.55021087G>TCA516583034ALAS2c.387C>A (p.Gly129=)
c.276C>A (p.Gly92=)
c.305-583C>A (n.305-583C>A)
c.603C>A (p.Gly201=)
c.492C>A (p.Gly164=)
c.564C>A (p.Gly188=)
c.458C>A
n.356-583C>A
n.347C>A
n.543C>A
c.675C>A (p.Gly225=)
c.-223-583C>A (n.-223-583C>A)
Xg.55021088C>ACA413295428ALAS2c.386G>T (p.Gly129Val)
c.275G>T (p.Gly92Val)
c.305-584G>T (n.305-584G>T)
c.602G>T (p.Gly201Val)
c.491G>T (p.Gly164Val)
c.563G>T (p.Gly188Val)
c.457G>T
n.356-584G>T
n.346G>T
n.542G>T
c.674G>T (p.Gly225Val)
c.-223-584G>T (n.-223-584G>T)
Xg.55021088C>GCA413295429ALAS2c.386G>C (p.Gly129Ala)
c.275G>C (p.Gly92Ala)
c.305-584G>C (n.305-584G>C)
c.602G>C (p.Gly201Ala)
c.491G>C (p.Gly164Ala)
c.563G>C (p.Gly188Ala)
c.457G>C
n.356-584G>C
n.346G>C
n.542G>C
c.674G>C (p.Gly225Ala)
c.-223-584G>C (n.-223-584G>C)
Xg.55021088C>TCA413295430ALAS2c.386G>A (p.Gly129Asp)
c.275G>A (p.Gly92Asp)
c.305-584G>A (n.305-584G>A)
c.602G>A (p.Gly201Asp)
c.491G>A (p.Gly164Asp)
c.563G>A (p.Gly188Asp)
c.457G>A
n.356-584G>A
n.346G>A
n.542G>A
c.674G>A (p.Gly225Asp)
c.-223-584G>A (n.-223-584G>A)
Xg.55021089C>ACA413295431ALAS2c.385G>T (p.Gly129Cys)
c.274G>T (p.Gly92Cys)
c.305-585G>T (n.305-585G>T)
c.601G>T (p.Gly201Cys)
c.490G>T (p.Gly164Cys)
c.562G>T (p.Gly188Cys)
c.456G>T
n.356-585G>T
n.345G>T
n.541G>T
c.673G>T (p.Gly225Cys)
c.-223-585G>T (n.-223-585G>T)
Xg.55021089C>GCA413295432ALAS2c.385G>C (p.Gly129Arg)
c.274G>C (p.Gly92Arg)
c.305-585G>C (n.305-585G>C)
c.601G>C (p.Gly201Arg)
c.490G>C (p.Gly164Arg)
c.562G>C (p.Gly188Arg)
c.456G>C
n.356-585G>C
n.345G>C
n.541G>C
c.673G>C (p.Gly225Arg)
c.-223-585G>C (n.-223-585G>C)
Xg.55021089C>TCA413295433ALAS2c.385G>A (p.Gly129Ser)
c.274G>A (p.Gly92Ser)
c.305-585G>A (n.305-585G>A)
c.601G>A (p.Gly201Ser)
c.490G>A (p.Gly164Ser)
c.562G>A (p.Gly188Ser)
c.456G>A
n.356-585G>A
n.345G>A
n.541G>A
c.673G>A (p.Gly225Ser)
c.-223-585G>A (n.-223-585G>A)
Xg.55021090C>ACA516583035ALAS2c.384G>T (p.Leu128=)
c.273G>T (p.Leu91=)
c.305-586G>T (n.305-586G>T)
c.600G>T (p.Leu200=)
c.489G>T (p.Leu163=)
c.561G>T (p.Leu187=)
c.455G>T
n.356-586G>T
n.344G>T
n.540G>T
c.672G>T (p.Leu224=)
c.-223-586G>T (n.-223-586G>T)
Xg.55021090C>GCA516583036ALAS2c.384G>C (p.Leu128=)
c.273G>C (p.Leu91=)
c.305-586G>C (n.305-586G>C)
c.600G>C (p.Leu200=)
c.489G>C (p.Leu163=)
c.561G>C (p.Leu187=)
c.455G>C
n.356-586G>C
n.344G>C
n.540G>C
c.672G>C (p.Leu224=)
c.-223-586G>C (n.-223-586G>C)
Xg.55021090C>TCA516583037ALAS2c.384G>A (p.Leu128=)
c.273G>A (p.Leu91=)
c.305-586G>A (n.305-586G>A)
c.600G>A (p.Leu200=)
c.489G>A (p.Leu163=)
c.561G>A (p.Leu187=)
c.455G>A
n.356-586G>A
n.344G>A
n.540G>A
c.672G>A (p.Leu224=)
c.-223-586G>A (n.-223-586G>A)
Xg.55021091A>CCA413295434ALAS2c.383T>G (p.Leu128Arg)
c.272T>G (p.Leu91Arg)
c.305-587T>G (n.305-587T>G)
c.599T>G (p.Leu200Arg)
c.488T>G (p.Leu163Arg)
c.560T>G (p.Leu187Arg)
c.454T>G
n.356-587T>G
n.343T>G
n.539T>G
c.671T>G (p.Leu224Arg)
c.-223-587T>G (n.-223-587T>G)
Xg.55021091A>GCA413295435ALAS2c.383T>C (p.Leu128Pro)
c.272T>C (p.Leu91Pro)
c.305-587T>C (n.305-587T>C)
c.599T>C (p.Leu200Pro)
c.488T>C (p.Leu163Pro)
c.560T>C (p.Leu187Pro)
c.454T>C
n.356-587T>C
n.343T>C
n.539T>C
c.671T>C (p.Leu224Pro)
c.-223-587T>C (n.-223-587T>C)
Xg.55021091A>TCA413295436ALAS2c.383T>A (p.Leu128Gln)
c.272T>A (p.Leu91Gln)
c.305-587T>A (n.305-587T>A)
c.599T>A (p.Leu200Gln)
c.488T>A (p.Leu163Gln)
c.560T>A (p.Leu187Gln)
c.454T>A
n.356-587T>A
n.343T>A
n.539T>A
c.671T>A (p.Leu224Gln)
c.-223-587T>A (n.-223-587T>A)
Xg.55021092G>ACA516583038ALAS2c.382C>T (p.Leu128=)
c.271C>T (p.Leu91=)
c.305-588C>T (n.305-588C>T)
c.598C>T (p.Leu200=)
c.487C>T (p.Leu163=)
c.559C>T (p.Leu187=)
c.453C>T
n.356-588C>T
n.342C>T
n.538C>T
c.670C>T (p.Leu224=)
c.-223-588C>T (n.-223-588C>T)
Xg.55021092G>CCA413295438ALAS2c.382C>G (p.Leu128Val)
c.271C>G (p.Leu91Val)
c.305-588C>G (n.305-588C>G)
c.598C>G (p.Leu200Val)
c.487C>G (p.Leu163Val)
c.559C>G (p.Leu187Val)
c.453C>G
n.356-588C>G
n.342C>G
n.538C>G
c.670C>G (p.Leu224Val)
c.-223-588C>G (n.-223-588C>G)
Xg.55021092G>TCA413295437ALAS2c.382C>A (p.Leu128Met)
c.271C>A (p.Leu91Met)
c.305-588C>A (n.305-588C>A)
c.598C>A (p.Leu200Met)
c.487C>A (p.Leu163Met)
c.559C>A (p.Leu187Met)
c.453C>A
n.356-588C>A
n.342C>A
n.538C>A
c.670C>A (p.Leu224Met)
c.-223-588C>A (n.-223-588C>A)
Xg.55021093G>ACA516583039ALAS2c.381C>T (p.Tyr127=)
c.270C>T (p.Tyr90=)
c.305-589C>T (n.305-589C>T)
c.597C>T (p.Tyr199=)
c.486C>T (p.Tyr162=)
c.558C>T (p.Tyr186=)
c.452C>T
n.356-589C>T
n.341C>T
n.537C>T
c.669C>T (p.Tyr223=)
c.-223-589C>T (n.-223-589C>T)
Xg.55021093G>CCA413295439ALAS2c.381C>G (p.Tyr127Ter)
c.270C>G (p.Tyr90Ter)
c.305-589C>G (n.305-589C>G)
c.597C>G (p.Tyr199Ter)
c.486C>G (p.Tyr162Ter)
c.558C>G (p.Tyr186Ter)
c.452C>G
n.356-589C>G
n.341C>G
n.537C>G
c.669C>G (p.Tyr223Ter)
c.-223-589C>G (n.-223-589C>G)
Xg.55021093G>TCA413295440ALAS2c.381C>A (p.Tyr127Ter)
c.270C>A (p.Tyr90Ter)
c.305-589C>A (n.305-589C>A)
c.597C>A (p.Tyr199Ter)
c.486C>A (p.Tyr162Ter)
c.558C>A (p.Tyr186Ter)
c.452C>A
n.356-589C>A
n.341C>A
n.537C>A
c.669C>A (p.Tyr223Ter)
c.-223-589C>A (n.-223-589C>A)
Xg.55021094T>ACA413295441ALAS2c.380A>T (p.Tyr127Phe)
c.269A>T (p.Tyr90Phe)
c.305-590A>T (n.305-590A>T)
c.596A>T (p.Tyr199Phe)
c.485A>T (p.Tyr162Phe)
c.557A>T (p.Tyr186Phe)
c.451A>T
n.356-590A>T
n.340A>T
n.536A>T
c.668A>T (p.Tyr223Phe)
c.-223-590A>T (n.-223-590A>T)
Xg.55021094T>CCA413295443ALAS2c.380A>G (p.Tyr127Cys)
c.269A>G (p.Tyr90Cys)
c.305-590A>G (n.305-590A>G)
c.596A>G (p.Tyr199Cys)
c.485A>G (p.Tyr162Cys)
c.557A>G (p.Tyr186Cys)
c.451A>G
n.356-590A>G
n.340A>G
n.536A>G
c.668A>G (p.Tyr223Cys)
c.-223-590A>G (n.-223-590A>G)
Xg.55021094T>GCA413295442ALAS2c.380A>C (p.Tyr127Ser)
c.269A>C (p.Tyr90Ser)
c.305-590A>C (n.305-590A>C)
c.596A>C (p.Tyr199Ser)
c.485A>C (p.Tyr162Ser)
c.557A>C (p.Tyr186Ser)
c.451A>C
n.356-590A>C
n.340A>C
n.536A>C
c.668A>C (p.Tyr223Ser)
c.-223-590A>C (n.-223-590A>C)
Xg.55021095A=CA2430392616ALAS2c.379T= (p.Tyr127=)
c.268T= (p.Tyr90=)
c.305-591T= (n.305-591T=)
c.595T= (p.Tyr199=)
c.484T= (p.Tyr162=)
c.556T= (p.Tyr186=)
c.450T=
n.356-591T=
n.339T=
n.535T=
c.667T= (p.Tyr223=)
c.-223-591T= (n.-223-591T=)
Xg.55021095A>CCA413295444ALAS2c.379T>G (p.Tyr127Asp)
c.268T>G (p.Tyr90Asp)
c.305-591T>G (n.305-591T>G)
c.595T>G (p.Tyr199Asp)
c.484T>G (p.Tyr162Asp)
c.556T>G (p.Tyr186Asp)
c.450T>G
n.356-591T>G
n.339T>G
n.535T>G
c.667T>G (p.Tyr223Asp)
c.-223-591T>G (n.-223-591T>G)
Xg.55021095A>GCA121097ALAS2c.379T>C (p.Tyr127His)
c.268T>C (p.Tyr90His)
c.305-591T>C (n.305-591T>C)
c.595T>C (p.Tyr199His)
c.484T>C (p.Tyr162His)
c.556T>C (p.Tyr186His)
c.450T>C
n.356-591T>C
n.339T>C
n.535T>C
c.667T>C (p.Tyr223His)
c.-223-591T>C (n.-223-591T>C)
 ClinVar dbSNP
Xg.55021095A>TCA413295445ALAS2c.379T>A (p.Tyr127Asn)
c.268T>A (p.Tyr90Asn)
c.305-591T>A (n.305-591T>A)
c.595T>A (p.Tyr199Asn)
c.484T>A (p.Tyr162Asn)
c.556T>A (p.Tyr186Asn)
c.450T>A
n.356-591T>A
n.339T>A
n.535T>A
c.667T>A (p.Tyr223Asn)
c.-223-591T>A (n.-223-591T>A)
Xg.55021096delCA2820995415ALAS2c.379del (p.Tyr127ThrfsTer4)
c.268del (p.Tyr90ThrfsTer4)
c.305-591del (n.305-591del)
c.595del (p.Tyr199ThrfsTer4)
c.484del (p.Tyr162ThrfsTer4)
c.556del (p.Tyr186ThrfsTer4)
c.450del
n.356-591del
n.339del
n.535del
c.667del (p.Tyr223ThrfsTer4)
c.-223-591del (n.-223-591del)
Xg.55021096A>CCA413295446ALAS2c.378T>G (p.Asp126Glu)
c.267T>G (p.Asp89Glu)
c.305-592T>G (n.305-592T>G)
c.594T>G (p.Asp198Glu)
c.483T>G (p.Asp161Glu)
c.555T>G (p.Asp185Glu)
c.449T>G
n.356-592T>G
n.338T>G
n.534T>G
c.666T>G (p.Asp222Glu)
c.-223-592T>G (n.-223-592T>G)
Xg.55021096A>GCA516583044ALAS2c.378T>C (p.Asp126=)
c.267T>C (p.Asp89=)
c.305-592T>C (n.305-592T>C)
c.594T>C (p.Asp198=)
c.483T>C (p.Asp161=)
c.555T>C (p.Asp185=)
c.449T>C
n.356-592T>C
n.338T>C
n.534T>C
c.666T>C (p.Asp222=)
c.-223-592T>C (n.-223-592T>C)
Xg.55021096A>TCA413295447ALAS2c.378T>A (p.Asp126Glu)
c.267T>A (p.Asp89Glu)
c.305-592T>A (n.305-592T>A)
c.594T>A (p.Asp198Glu)
c.483T>A (p.Asp161Glu)
c.555T>A (p.Asp185Glu)
c.449T>A
n.356-592T>A
n.338T>A
n.534T>A
c.666T>A (p.Asp222Glu)
c.-223-592T>A (n.-223-592T>A)
Xg.55021097T>ACA413295448ALAS2c.377A>T (p.Asp126Val)
c.266A>T (p.Asp89Val)
c.305-593A>T (n.305-593A>T)
c.593A>T (p.Asp198Val)
c.482A>T (p.Asp161Val)
c.554A>T (p.Asp185Val)
c.448A>T
n.356-593A>T
n.337A>T
n.533A>T
c.665A>T (p.Asp222Val)
c.-223-593A>T (n.-223-593A>T)
Xg.55021097T>CCA413295449ALAS2c.377A>G (p.Asp126Gly)
c.266A>G (p.Asp89Gly)
c.305-593A>G (n.305-593A>G)
c.593A>G (p.Asp198Gly)
c.482A>G (p.Asp161Gly)
c.554A>G (p.Asp185Gly)
c.448A>G
n.356-593A>G
n.337A>G
n.533A>G
c.665A>G (p.Asp222Gly)
c.-223-593A>G (n.-223-593A>G)
Xg.55021097T>GCA413295450ALAS2c.377A>C (p.Asp126Ala)
c.266A>C (p.Asp89Ala)
c.305-593A>C (n.305-593A>C)
c.593A>C (p.Asp198Ala)
c.482A>C (p.Asp161Ala)
c.554A>C (p.Asp185Ala)
c.448A>C
n.356-593A>C
n.337A>C
n.533A>C
c.665A>C (p.Asp222Ala)
c.-223-593A>C (n.-223-593A>C)
Xg.55021098C>ACA413295451ALAS2c.376G>T (p.Asp126Tyr)
c.265G>T (p.Asp89Tyr)
c.305-594G>T (n.305-594G>T)
c.592G>T (p.Asp198Tyr)
c.481G>T (p.Asp161Tyr)
c.553G>T (p.Asp185Tyr)
c.447G>T
n.356-594G>T
n.336G>T
n.532G>T
c.664G>T (p.Asp222Tyr)
c.-223-594G>T (n.-223-594G>T)
Xg.55021098C>GCA413295452ALAS2c.376G>C (p.Asp126His)
c.265G>C (p.Asp89His)
c.305-594G>C (n.305-594G>C)
c.592G>C (p.Asp198His)
c.481G>C (p.Asp161His)
c.553G>C (p.Asp185His)
c.447G>C
n.356-594G>C
n.336G>C
n.532G>C
c.664G>C (p.Asp222His)
c.-223-594G>C (n.-223-594G>C)
Xg.55021098C>TCA413295453ALAS2c.376G>A (p.Asp126Asn)
c.265G>A (p.Asp89Asn)
c.305-594G>A (n.305-594G>A)
c.592G>A (p.Asp198Asn)
c.481G>A (p.Asp161Asn)
c.553G>A (p.Asp185Asn)
c.447G>A
n.356-594G>A
n.336G>A
n.532G>A
c.664G>A (p.Asp222Asn)
c.-223-594G>A (n.-223-594G>A)
Xg.55021099A=CA2430392617ALAS2c.375T= (p.Asn125=)
c.264T= (p.Asn88=)
c.305-595T= (n.305-595T=)
c.591T= (p.Asn197=)
c.480T= (p.Asn160=)
c.552T= (p.Asn184=)
c.446T=
n.356-595T=
n.335T=
n.531T=
c.663T= (p.Asn221=)
c.-223-595T= (n.-223-595T=)
Xg.55021099A>CCA413295454ALAS2c.375T>G (p.Asn125Lys)
c.264T>G (p.Asn88Lys)
c.305-595T>G (n.305-595T>G)
c.591T>G (p.Asn197Lys)
c.480T>G (p.Asn160Lys)
c.552T>G (p.Asn184Lys)
c.446T>G
n.356-595T>G
n.335T>G
n.531T>G
c.663T>G (p.Asn221Lys)
c.-223-595T>G (n.-223-595T>G)

Number of alleles fetched