Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.55015569T>CCA328970944ALAS2c.1168+9A>G (n.1168+9A>G)
c.1057+9A>G (n.1057+9A>G)
c.1129+9A>G (n.1129+9A>G)
n.459+9A>G
c.1240+9A>G (n.1240+9A>G)
c.307+9A>G (n.307+9A>G)
 dbSNP gnomAD v4
Xg.55015569T=CA2430390701ALAS2c.1168+9A= (n.1168+9A=)
c.1057+9A= (n.1057+9A=)
c.1129+9A= (n.1129+9A=)
n.459+9A=
c.1240+9A= (n.1240+9A=)
c.307+9A= (n.307+9A=)
Xg.55015572A>GCA2579624274ALAS2c.1168+6T>C (n.1168+6T>C)
c.1057+6T>C (n.1057+6T>C)
c.1129+6T>C (n.1129+6T>C)
n.459+6T>C
c.1240+6T>C (n.1240+6T>C)
c.307+6T>C (n.307+6T>C)
Xg.55015576A>CCA413293312ALAS2c.1168+2T>G (n.1168+2T>G)
c.1057+2T>G (n.1057+2T>G)
c.1129+2T>G (n.1129+2T>G)
n.459+2T>G
c.1240+2T>G (n.1240+2T>G)
c.307+2T>G (n.307+2T>G)
Xg.55015576A>GCA413293310ALAS2c.1168+2T>C (n.1168+2T>C)
c.1057+2T>C (n.1057+2T>C)
c.1129+2T>C (n.1129+2T>C)
n.459+2T>C
c.1240+2T>C (n.1240+2T>C)
c.307+2T>C (n.307+2T>C)
Xg.55015576A>TCA413293311ALAS2c.1168+2T>A (n.1168+2T>A)
c.1057+2T>A (n.1057+2T>A)
c.1129+2T>A (n.1129+2T>A)
n.459+2T>A
c.1240+2T>A (n.1240+2T>A)
c.307+2T>A (n.307+2T>A)
Xg.55015577C>ACA413293313ALAS2c.1168+1G>T (n.1168+1G>T)
c.1057+1G>T (n.1057+1G>T)
c.1129+1G>T (n.1129+1G>T)
n.459+1G>T
c.1240+1G>T (n.1240+1G>T)
c.307+1G>T (n.307+1G>T)
Xg.55015577C>GCA413293314ALAS2c.1168+1G>C (n.1168+1G>C)
c.1057+1G>C (n.1057+1G>C)
c.1129+1G>C (n.1129+1G>C)
n.459+1G>C
c.1240+1G>C (n.1240+1G>C)
c.307+1G>C (n.307+1G>C)
Xg.55015577C>TCA413293315ALAS2c.1168+1G>A (n.1168+1G>A)
c.1057+1G>A (n.1057+1G>A)
c.1129+1G>A (n.1129+1G>A)
n.459+1G>A
c.1240+1G>A (n.1240+1G>A)
c.307+1G>A (n.307+1G>A)
Xg.55015578C>ACA413293316ALAS2c.1168G>T (p.Gly390Cys)
c.1057G>T (p.Gly353Cys)
c.1129G>T (p.Gly377Cys)
n.459G>T
c.1240G>T (p.Gly414Cys)
c.307G>T (p.Gly103Cys)
Xg.55015578C>GCA413293317ALAS2c.1168G>C (p.Gly390Arg)
c.1057G>C (p.Gly353Arg)
c.1129G>C (p.Gly377Arg)
n.459G>C
c.1240G>C (p.Gly414Arg)
c.307G>C (p.Gly103Arg)
Xg.55015578C>TCA413293318ALAS2c.1168G>A (p.Gly390Ser)
c.1057G>A (p.Gly353Ser)
c.1129G>A (p.Gly377Ser)
n.459G>A
c.1240G>A (p.Gly414Ser)
c.307G>A (p.Gly103Ser)
Xg.55015579A=CA2430390702ALAS2c.1167T= (p.Leu389=)
c.1056T= (p.Leu352=)
c.1128T= (p.Leu376=)
n.458T=
c.1239T= (p.Leu413=)
c.306T= (p.Leu102=)
Xg.55015579A>CCA289378ALAS2c.1167T>G (p.Leu389=)
c.1056T>G (p.Leu352=)
c.1128T>G (p.Leu376=)
n.458T>G
c.1239T>G (p.Leu413=)
c.306T>G (p.Leu102=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.55015579A>GCA516582261ALAS2c.1167T>C (p.Leu389=)
c.1056T>C (p.Leu352=)
c.1128T>C (p.Leu376=)
n.458T>C
c.1239T>C (p.Leu413=)
c.306T>C (p.Leu102=)
 gnomAD v4
Xg.55015579A>TCA516582263ALAS2c.1167T>A (p.Leu389=)
c.1056T>A (p.Leu352=)
c.1128T>A (p.Leu376=)
n.458T>A
c.1239T>A (p.Leu413=)
c.306T>A (p.Leu102=)
Xg.55015580A>CCA413293319ALAS2c.1166T>G (p.Leu389Arg)
c.1055T>G (p.Leu352Arg)
c.1127T>G (p.Leu376Arg)
n.457T>G
c.1238T>G (p.Leu413Arg)
c.305T>G (p.Leu102Arg)
Xg.55015580A>GCA413293320ALAS2c.1166T>C (p.Leu389Pro)
c.1055T>C (p.Leu352Pro)
c.1127T>C (p.Leu376Pro)
n.457T>C
c.1238T>C (p.Leu413Pro)
c.305T>C (p.Leu102Pro)
Xg.55015580A>TCA413293321ALAS2c.1166T>A (p.Leu389His)
c.1055T>A (p.Leu352His)
c.1127T>A (p.Leu376His)
n.457T>A
c.1238T>A (p.Leu413His)
c.305T>A (p.Leu102His)
Xg.55015581G>ACA413293324ALAS2c.1165C>T (p.Leu389Phe)
c.1054C>T (p.Leu352Phe)
c.1126C>T (p.Leu376Phe)
n.456C>T
c.1237C>T (p.Leu413Phe)
c.304C>T (p.Leu102Phe)
Xg.55015581G>CCA413293323ALAS2c.1165C>G (p.Leu389Val)
c.1054C>G (p.Leu352Val)
c.1126C>G (p.Leu376Val)
n.456C>G
c.1237C>G (p.Leu413Val)
c.304C>G (p.Leu102Val)
Xg.55015581G>TCA413293322ALAS2c.1165C>A (p.Leu389Ile)
c.1054C>A (p.Leu352Ile)
c.1126C>A (p.Leu376Ile)
n.456C>A
c.1237C>A (p.Leu413Ile)
c.304C>A (p.Leu102Ile)
Xg.55015582A>CCA516582274ALAS2c.1164T>G (p.Thr388=)
c.1053T>G (p.Thr351=)
c.1125T>G (p.Thr375=)
n.455T>G
c.1236T>G (p.Thr412=)
c.303T>G (p.Thr101=)
Xg.55015582A>GCA516582275ALAS2c.1164T>C (p.Thr388=)
c.1053T>C (p.Thr351=)
c.1125T>C (p.Thr375=)
n.455T>C
c.1236T>C (p.Thr412=)
c.303T>C (p.Thr101=)
Xg.55015582A>TCA516582276ALAS2c.1164T>A (p.Thr388=)
c.1053T>A (p.Thr351=)
c.1125T>A (p.Thr375=)
n.455T>A
c.1236T>A (p.Thr412=)
c.303T>A (p.Thr101=)
Xg.55015583G>ACA413293325ALAS2c.1163C>T (p.Thr388Ile)
c.1052C>T (p.Thr351Ile)
c.1124C>T (p.Thr375Ile)
n.454C>T
c.1235C>T (p.Thr412Ile)
c.302C>T (p.Thr101Ile)
Xg.55015583G>CCA121077ALAS2c.1163C>G (p.Thr388Ser)
c.1052C>G (p.Thr351Ser)
c.1124C>G (p.Thr375Ser)
n.454C>G
c.1235C>G (p.Thr412Ser)
c.302C>G (p.Thr101Ser)
 ClinVar dbSNP
Xg.55015583G=CA2430390703ALAS2c.1163C= (p.Thr388=)
c.1052C= (p.Thr351=)
c.1124C= (p.Thr375=)
n.454C=
c.1235C= (p.Thr412=)
c.302C= (p.Thr101=)
Xg.55015583G>TCA413293326ALAS2c.1163C>A (p.Thr388Asn)
c.1052C>A (p.Thr351Asn)
c.1124C>A (p.Thr375Asn)
n.454C>A
c.1235C>A (p.Thr412Asn)
c.302C>A (p.Thr101Asn)
 COSMIC COSMIC COSMIC
Xg.55015584T>ACA413293327ALAS2c.1162A>T (p.Thr388Ser)
c.1051A>T (p.Thr351Ser)
c.1123A>T (p.Thr375Ser)
n.453A>T
c.1234A>T (p.Thr412Ser)
c.301A>T (p.Thr101Ser)
Xg.55015584T>CCA413293328ALAS2c.1162A>G (p.Thr388Ala)
c.1051A>G (p.Thr351Ala)
c.1123A>G (p.Thr375Ala)
n.453A>G
c.1234A>G (p.Thr412Ala)
c.301A>G (p.Thr101Ala)
Xg.55015584T>GCA413293329ALAS2c.1162A>C (p.Thr388Pro)
c.1051A>C (p.Thr351Pro)
c.1123A>C (p.Thr375Pro)
n.453A>C
c.1234A>C (p.Thr412Pro)
c.301A>C (p.Thr101Pro)
Xg.55015585T>ACA516582285ALAS2c.1161A>T (p.Gly387=)
c.1050A>T (p.Gly350=)
c.1122A>T (p.Gly374=)
n.452A>T
c.1233A>T (p.Gly411=)
c.300A>T (p.Gly100=)
Xg.55015585T>CCA516582288ALAS2c.1161A>G (p.Gly387=)
c.1050A>G (p.Gly350=)
c.1122A>G (p.Gly374=)
n.452A>G
c.1233A>G (p.Gly411=)
c.300A>G (p.Gly100=)
 gnomAD v4
Xg.55015585T>GCA516582287ALAS2c.1161A>C (p.Gly387=)
c.1050A>C (p.Gly350=)
c.1122A>C (p.Gly374=)
n.452A>C
c.1233A>C (p.Gly411=)
c.300A>C (p.Gly100=)
Xg.55015586C>ACA413293330ALAS2c.1160G>T (p.Gly387Val)
c.1049G>T (p.Gly350Val)
c.1121G>T (p.Gly374Val)
n.451G>T
c.1232G>T (p.Gly411Val)
c.299G>T (p.Gly100Val)
Xg.55015586C=CA2430390704ALAS2c.1160G= (p.Gly387=)
c.1049G= (p.Gly350=)
c.1121G= (p.Gly374=)
n.451G=
c.1232G= (p.Gly411=)
c.299G= (p.Gly100=)
Xg.55015586C>GCA16609200ALAS2c.1160G>C (p.Gly387Ala)
c.1049G>C (p.Gly350Ala)
c.1121G>C (p.Gly374Ala)
n.451G>C
c.1232G>C (p.Gly411Ala)
c.299G>C (p.Gly100Ala)
 ClinVar dbSNP gnomAD v4
Xg.55015586C>TCA413293331ALAS2c.1160G>A (p.Gly387Glu)
c.1049G>A (p.Gly350Glu)
c.1121G>A (p.Gly374Glu)
n.451G>A
c.1232G>A (p.Gly411Glu)
c.299G>A (p.Gly100Glu)
 COSMIC COSMIC COSMIC
Xg.55015587delCA645614159ALAS2c.1160del (p.Gly387GlufsTer?)
c.1049del (p.Gly350GlufsTer?)
c.1121del (p.Gly374GlufsTer?)
n.451del
c.1232del (p.Gly411GlufsTer?)
c.299del (p.Gly100GlufsTer?)
 COSMIC COSMIC COSMIC
Xg.55015587C>ACA413293332ALAS2c.1159G>T (p.Gly387Ter)
c.1048G>T (p.Gly350Ter)
c.1120G>T (p.Gly374Ter)
n.450G>T
c.1231G>T (p.Gly411Ter)
c.298G>T (p.Gly100Ter)
Xg.55015587C>GCA413293333ALAS2c.1159G>C (p.Gly387Arg)
c.1048G>C (p.Gly350Arg)
c.1120G>C (p.Gly374Arg)
n.450G>C
c.1231G>C (p.Gly411Arg)
c.298G>C (p.Gly100Arg)
Xg.55015587C>TCA413293334ALAS2c.1159G>A (p.Gly387Arg)
c.1048G>A (p.Gly350Arg)
c.1120G>A (p.Gly374Arg)
n.450G>A
c.1231G>A (p.Gly411Arg)
c.298G>A (p.Gly100Arg)
Xg.55015588A=CA2430390705ALAS2c.1158T= (p.Ser386=)
c.1047T= (p.Ser349=)
c.1119T= (p.Ser373=)
n.449T=
c.1230T= (p.Ser410=)
c.297T= (p.Ser99=)
Xg.55015588A>CCA516582293ALAS2c.1158T>G (p.Ser386=)
c.1047T>G (p.Ser349=)
c.1119T>G (p.Ser373=)
n.449T>G
c.1230T>G (p.Ser410=)
c.297T>G (p.Ser99=)
Xg.55015588A>GCA516582295ALAS2c.1158T>C (p.Ser386=)
c.1047T>C (p.Ser349=)
c.1119T>C (p.Ser373=)
n.449T>C
c.1230T>C (p.Ser410=)
c.297T>C (p.Ser99=)
 dbSNP gnomAD v2 gnomAD v4
Xg.55015588A>TCA516582296ALAS2c.1158T>A (p.Ser386=)
c.1047T>A (p.Ser349=)
c.1119T>A (p.Ser373=)
n.449T>A
c.1230T>A (p.Ser410=)
c.297T>A (p.Ser99=)
Xg.55015589G>ACA413293337ALAS2c.1157C>T (p.Ser386Phe)
c.1046C>T (p.Ser349Phe)
c.1118C>T (p.Ser373Phe)
n.448C>T
c.1229C>T (p.Ser410Phe)
c.296C>T (p.Ser99Phe)
Xg.55015589G>CCA413293336ALAS2c.1157C>G (p.Ser386Cys)
c.1046C>G (p.Ser349Cys)
c.1118C>G (p.Ser373Cys)
n.448C>G
c.1229C>G (p.Ser410Cys)
c.296C>G (p.Ser99Cys)
Xg.55015589G>TCA413293335ALAS2c.1157C>A (p.Ser386Tyr)
c.1046C>A (p.Ser349Tyr)
c.1118C>A (p.Ser373Tyr)
n.448C>A
c.1229C>A (p.Ser410Tyr)
c.296C>A (p.Ser99Tyr)

Number of alleles fetched