| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.55015549A>C | CA2820994990 | ALAS2 | c.1168+29T>G (n.1168+29T>G) c.1057+29T>G (n.1057+29T>G) c.1129+29T>G (n.1129+29T>G) n.459+29T>G c.1240+29T>G (n.1240+29T>G) c.307+29T>G (n.307+29T>G) | |
| X | g.55015549A>G | CA1133278510 | ALAS2 | c.1168+29T>C (n.1168+29T>C) c.1057+29T>C (n.1057+29T>C) c.1129+29T>C (n.1129+29T>C) n.459+29T>C c.1240+29T>C (n.1240+29T>C) c.307+29T>C (n.307+29T>C) | gnomAD v3 gnomAD v4 |
| X | g.55015551A>G | CA2820994991 | ALAS2 | c.1168+27T>C (n.1168+27T>C) c.1057+27T>C (n.1057+27T>C) c.1129+27T>C (n.1129+27T>C) n.459+27T>C c.1240+27T>C (n.1240+27T>C) c.307+27T>C (n.307+27T>C) | |
| X | g.55015554A= | CA2430390691 | ALAS2 | c.1168+24T= (n.1168+24T=) c.1057+24T= (n.1057+24T=) c.1129+24T= (n.1129+24T=) n.459+24T= c.1240+24T= (n.1240+24T=) c.307+24T= (n.307+24T=) | |
| X | g.55015554A>G | CA2430390692 | ALAS2 | c.1168+24T>C (n.1168+24T>C) c.1057+24T>C (n.1057+24T>C) c.1129+24T>C (n.1129+24T>C) n.459+24T>C c.1240+24T>C (n.1240+24T>C) c.307+24T>C (n.307+24T>C) | dbSNP gnomAD v4 |
| X | g.55015555G>A | CA2430390694 | ALAS2 | c.1168+23C>T (n.1168+23C>T) c.1057+23C>T (n.1057+23C>T) c.1129+23C>T (n.1129+23C>T) n.459+23C>T c.1240+23C>T (n.1240+23C>T) c.307+23C>T (n.307+23C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.55015555G= | CA2430390693 | ALAS2 | c.1168+23C= (n.1168+23C=) c.1057+23C= (n.1057+23C=) c.1129+23C= (n.1129+23C=) n.459+23C= c.1240+23C= (n.1240+23C=) c.307+23C= (n.307+23C=) | |
| X | g.55015557A= | CA2430390695 | ALAS2 | c.1168+21T= (n.1168+21T=) c.1057+21T= (n.1057+21T=) c.1129+21T= (n.1129+21T=) n.459+21T= c.1240+21T= (n.1240+21T=) c.307+21T= (n.307+21T=) | |
| X | g.55015557A>C | CA641383116 | ALAS2 | c.1168+21T>G (n.1168+21T>G) c.1057+21T>G (n.1057+21T>G) c.1129+21T>G (n.1129+21T>G) n.459+21T>G c.1240+21T>G (n.1240+21T>G) c.307+21T>G (n.307+21T>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.55015558G>A | CA10428334 | ALAS2 | c.1168+20C>T (n.1168+20C>T) c.1057+20C>T (n.1057+20C>T) c.1129+20C>T (n.1129+20C>T) n.459+20C>T c.1240+20C>T (n.1240+20C>T) c.307+20C>T (n.307+20C>T) | dbSNP ExAC |
| X | g.55015558G= | CA2430390696 | ALAS2 | c.1168+20C= (n.1168+20C=) c.1057+20C= (n.1057+20C=) c.1129+20C= (n.1129+20C=) n.459+20C= c.1240+20C= (n.1240+20C=) c.307+20C= (n.307+20C=) | |
| X | g.55015559G= | CA2430390697 | ALAS2 | c.1168+19C= (n.1168+19C=) c.1057+19C= (n.1057+19C=) c.1129+19C= (n.1129+19C=) n.459+19C= c.1240+19C= (n.1240+19C=) c.307+19C= (n.307+19C=) | |
| X | g.55015559G>T | CA10428335 | ALAS2 | c.1168+19C>A (n.1168+19C>A) c.1057+19C>A (n.1057+19C>A) c.1129+19C>A (n.1129+19C>A) n.459+19C>A c.1240+19C>A (n.1240+19C>A) c.307+19C>A (n.307+19C>A) | ClinVar dbSNP ExAC gnomAD v4 |
| X | g.55015560C= | CA2430390698 | ALAS2 | c.1168+18G= (n.1168+18G=) c.1057+18G= (n.1057+18G=) c.1129+18G= (n.1129+18G=) n.459+18G= c.1240+18G= (n.1240+18G=) c.307+18G= (n.307+18G=) | |
| X | g.55015560C>T | CA641383117 | ALAS2 | c.1168+18G>A (n.1168+18G>A) c.1057+18G>A (n.1057+18G>A) c.1129+18G>A (n.1129+18G>A) n.459+18G>A c.1240+18G>A (n.1240+18G>A) c.307+18G>A (n.307+18G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.55015563A>G | CA2693865097 | ALAS2 | c.1168+15T>C (n.1168+15T>C) c.1057+15T>C (n.1057+15T>C) c.1129+15T>C (n.1129+15T>C) n.459+15T>C c.1240+15T>C (n.1240+15T>C) c.307+15T>C (n.307+15T>C) | gnomAD v4 |
| X | g.55015564A>G | CA2693865098 | ALAS2 | c.1168+14T>C (n.1168+14T>C) c.1057+14T>C (n.1057+14T>C) c.1129+14T>C (n.1129+14T>C) n.459+14T>C c.1240+14T>C (n.1240+14T>C) c.307+14T>C (n.307+14T>C) | gnomAD v4 |
| X | g.55015566G>A | CA2430390700 | ALAS2 | c.1168+12C>T (n.1168+12C>T) c.1057+12C>T (n.1057+12C>T) c.1129+12C>T (n.1129+12C>T) n.459+12C>T c.1240+12C>T (n.1240+12C>T) c.307+12C>T (n.307+12C>T) | dbSNP gnomAD v4 |
| X | g.55015566G= | CA2430390699 | ALAS2 | c.1168+12C= (n.1168+12C=) c.1057+12C= (n.1057+12C=) c.1129+12C= (n.1129+12C=) n.459+12C= c.1240+12C= (n.1240+12C=) c.307+12C= (n.307+12C=) | |
| X | g.55015566G>T | CA2693865100 | ALAS2 | c.1168+12C>A (n.1168+12C>A) c.1057+12C>A (n.1057+12C>A) c.1129+12C>A (n.1129+12C>A) n.459+12C>A c.1240+12C>A (n.1240+12C>A) c.307+12C>A (n.307+12C>A) | gnomAD v4 |
| X | g.55015569T>C | CA328970944 | ALAS2 | c.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 |
| X | g.55015569T= | CA2430390701 | ALAS2 | c.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=) | |
| X | g.55015572A>G | CA2579624274 | ALAS2 | c.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) | |
| X | g.55015576A>C | CA413293312 | ALAS2 | c.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) | |
| X | g.55015576A>G | CA413293310 | ALAS2 | c.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) | |
| X | g.55015576A>T | CA413293311 | ALAS2 | c.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) | |
| X | g.55015577C>A | CA413293313 | ALAS2 | c.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) | |
| X | g.55015577C>G | CA413293314 | ALAS2 | c.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) | |
| X | g.55015577C>T | CA413293315 | ALAS2 | c.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) | |
| X | g.55015578C>A | CA413293316 | ALAS2 | c.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) | |
| X | g.55015578C>G | CA413293317 | ALAS2 | c.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) | |
| X | g.55015578C>T | CA413293318 | ALAS2 | c.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) | |
| X | g.55015579A= | CA2430390702 | ALAS2 | c.1167T= (p.Leu389=) c.1056T= (p.Leu352=) c.1128T= (p.Leu376=) n.458T= c.1239T= (p.Leu413=) c.306T= (p.Leu102=) | |
| X | g.55015579A>C | CA289378 | ALAS2 | c.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 |
| X | g.55015579A>G | CA516582261 | ALAS2 | c.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 |
| X | g.55015579A>T | CA516582263 | ALAS2 | c.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=) | |
| X | g.55015580A>C | CA413293319 | ALAS2 | c.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) | |
| X | g.55015580A>G | CA413293320 | ALAS2 | c.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) | |
| X | g.55015580A>T | CA413293321 | ALAS2 | c.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) | |
| X | g.55015581G>A | CA413293324 | ALAS2 | c.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) | |
| X | g.55015581G>C | CA413293323 | ALAS2 | c.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) | |
| X | g.55015581G>T | CA413293322 | ALAS2 | c.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) | |
| X | g.55015582A>C | CA516582274 | ALAS2 | c.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=) | |
| X | g.55015582A>G | CA516582275 | ALAS2 | c.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=) | |
| X | g.55015582A>T | CA516582276 | ALAS2 | c.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=) | |
| X | g.55015583G>A | CA413293325 | ALAS2 | c.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) | |
| X | g.55015583G>C | CA121077 | ALAS2 | c.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 |
| X | g.55015583G= | CA2430390703 | ALAS2 | c.1163C= (p.Thr388=) c.1052C= (p.Thr351=) c.1124C= (p.Thr375=) n.454C= c.1235C= (p.Thr412=) c.302C= (p.Thr101=) | |
| X | g.55015583G>T | CA413293326 | ALAS2 | c.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 |
| X | g.55015584T>A | CA413293327 | ALAS2 | c.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) | |
| X | g.55015584T>C | CA413293328 | ALAS2 | c.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) | |
| X | g.55015584T>G | CA413293329 | ALAS2 | c.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) | |
| X | g.55015585T>A | CA516582285 | ALAS2 | c.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=) | |
| X | g.55015585T>C | CA516582288 | ALAS2 | c.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 |
| X | g.55015585T>G | CA516582287 | ALAS2 | c.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=) | |
| X | g.55015586C>A | CA413293330 | ALAS2 | c.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) | |
| X | g.55015586C= | CA2430390704 | ALAS2 | c.1160G= (p.Gly387=) c.1049G= (p.Gly350=) c.1121G= (p.Gly374=) n.451G= c.1232G= (p.Gly411=) c.299G= (p.Gly100=) | |
| X | g.55015586C>G | CA16609200 | ALAS2 | c.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 |
| X | g.55015586C>T | CA413293331 | ALAS2 | c.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 |
| X | g.55015587del | CA645614159 | ALAS2 | c.1160del (p.Gly387GlufsTer?) c.1049del (p.Gly350GlufsTer?) c.1121del (p.Gly374GlufsTer?) n.451del c.1232del (p.Gly411GlufsTer?) c.299del (p.Gly100GlufsTer?) | COSMIC COSMIC COSMIC |
| X | g.55015587C>A | CA413293332 | ALAS2 | c.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) | |
| X | g.55015587C>G | CA413293333 | ALAS2 | c.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) | |
| X | g.55015587C>T | CA413293334 | ALAS2 | c.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) | |
| X | g.55015588A= | CA2430390705 | ALAS2 | c.1158T= (p.Ser386=) c.1047T= (p.Ser349=) c.1119T= (p.Ser373=) n.449T= c.1230T= (p.Ser410=) c.297T= (p.Ser99=) | |
| X | g.55015588A>C | CA516582293 | ALAS2 | c.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=) | |
| X | g.55015588A>G | CA516582295 | ALAS2 | c.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 |
| X | g.55015588A>T | CA516582296 | ALAS2 | c.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=) | |
| X | g.55015589G>A | CA413293337 | ALAS2 | c.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) | |
| X | g.55015589G>C | CA413293336 | ALAS2 | c.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) | |
| X | g.55015589G>T | CA413293335 | ALAS2 | c.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) | |
| X | g.55015590A= | CA2430390706 | ALAS2 | c.1156T= (p.Ser386=) c.1045T= (p.Ser349=) c.1117T= (p.Ser373=) n.447T= c.1228T= (p.Ser410=) c.295T= (p.Ser99=) | |
| X | g.55015590A>C | CA10428336 | ALAS2 | c.1156T>G (p.Ser386Ala) c.1045T>G (p.Ser349Ala) c.1117T>G (p.Ser373Ala) n.447T>G c.1228T>G (p.Ser410Ala) c.295T>G (p.Ser99Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.55015590A>G | CA413293339 | ALAS2 | c.1156T>C (p.Ser386Pro) c.1045T>C (p.Ser349Pro) c.1117T>C (p.Ser373Pro) n.447T>C c.1228T>C (p.Ser410Pro) c.295T>C (p.Ser99Pro) | dbSNP |
| X | g.55015590A>T | CA413293338 | ALAS2 | c.1156T>A (p.Ser386Thr) c.1045T>A (p.Ser349Thr) c.1117T>A (p.Ser373Thr) n.447T>A c.1228T>A (p.Ser410Thr) c.295T>A (p.Ser99Thr) | |
| X | g.55015591G>A | CA516582303 | ALAS2 | c.1155C>T (p.Ile385=) c.1044C>T (p.Ile348=) c.1116C>T (p.Ile372=) n.446C>T c.1227C>T (p.Ile409=) c.294C>T (p.Ile98=) | gnomAD v4 |
| X | g.55015591G>C | CA413293340 | ALAS2 | c.1155C>G (p.Ile385Met) c.1044C>G (p.Ile348Met) c.1116C>G (p.Ile372Met) n.446C>G c.1227C>G (p.Ile409Met) c.294C>G (p.Ile98Met) | |
| X | g.55015591G>T | CA516582305 | ALAS2 | c.1155C>A (p.Ile385=) c.1044C>A (p.Ile348=) c.1116C>A (p.Ile372=) n.446C>A c.1227C>A (p.Ile409=) c.294C>A (p.Ile98=) | |
| X | g.55015592A= | CA2430390707 | ALAS2 | c.1154T= (p.Ile385=) c.1043T= (p.Ile348=) c.1115T= (p.Ile372=) n.445T= c.1226T= (p.Ile409=) c.293T= (p.Ile98=) | |
| X | g.55015592A>C | CA413293343 | ALAS2 | c.1154T>G (p.Ile385Ser) c.1043T>G (p.Ile348Ser) c.1115T>G (p.Ile372Ser) n.445T>G c.1226T>G (p.Ile409Ser) c.293T>G (p.Ile98Ser) | |
| X | g.55015592A>G | CA413293341 | ALAS2 | c.1154T>C (p.Ile385Thr) c.1043T>C (p.Ile348Thr) c.1115T>C (p.Ile372Thr) n.445T>C c.1226T>C (p.Ile409Thr) c.293T>C (p.Ile98Thr) | dbSNP gnomAD v4 |
| X | g.55015592A>T | CA413293342 | ALAS2 | c.1154T>A (p.Ile385Asn) c.1043T>A (p.Ile348Asn) c.1115T>A (p.Ile372Asn) n.445T>A c.1226T>A (p.Ile409Asn) c.293T>A (p.Ile98Asn) | |
| X | g.55015593T>A | CA413293344 | ALAS2 | c.1153A>T (p.Ile385Phe) c.1042A>T (p.Ile348Phe) c.1114A>T (p.Ile372Phe) n.444A>T c.1225A>T (p.Ile409Phe) c.292A>T (p.Ile98Phe) | |
| X | g.55015593T>C | CA413293345 | ALAS2 | c.1153A>G (p.Ile385Val) c.1042A>G (p.Ile348Val) c.1114A>G (p.Ile372Val) n.444A>G c.1225A>G (p.Ile409Val) c.292A>G (p.Ile98Val) | |
| X | g.55015593T>G | CA413293346 | ALAS2 | c.1153A>C (p.Ile385Leu) c.1042A>C (p.Ile348Leu) c.1114A>C (p.Ile372Leu) n.444A>C c.1225A>C (p.Ile409Leu) c.292A>C (p.Ile98Leu) | |
| X | g.55015594G>A | CA516582313 | ALAS2 | c.1152C>T (p.Ile384=) c.1041C>T (p.Ile347=) c.1113C>T (p.Ile371=) n.443C>T c.1224C>T (p.Ile408=) c.291C>T (p.Ile97=) | |
| X | g.55015594G>C | CA413293348 | ALAS2 | c.1152C>G (p.Ile384Met) c.1041C>G (p.Ile347Met) c.1113C>G (p.Ile371Met) n.443C>G c.1224C>G (p.Ile408Met) c.291C>G (p.Ile97Met) | |
| X | g.55015594G= | CA2430390708 | ALAS2 | c.1152C= (p.Ile384=) c.1041C= (p.Ile347=) c.1113C= (p.Ile371=) n.443C= c.1224C= (p.Ile408=) c.291C= (p.Ile97=) | |
| X | g.55015594G>T | CA516582315 | ALAS2 | c.1152C>A (p.Ile384=) c.1041C>A (p.Ile347=) c.1113C>A (p.Ile371=) n.443C>A c.1224C>A (p.Ile408=) c.291C>A (p.Ile97=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.55015595A>C | CA413293350 | ALAS2 | c.1151T>G (p.Ile384Ser) c.1040T>G (p.Ile347Ser) c.1112T>G (p.Ile371Ser) n.442T>G c.1223T>G (p.Ile408Ser) c.290T>G (p.Ile97Ser) | |
| X | g.55015595A>G | CA413293352 | ALAS2 | c.1151T>C (p.Ile384Thr) c.1040T>C (p.Ile347Thr) c.1112T>C (p.Ile371Thr) n.442T>C c.1223T>C (p.Ile408Thr) c.290T>C (p.Ile97Thr) | |
| X | g.55015595A>T | CA413293353 | ALAS2 | c.1151T>A (p.Ile384Asn) c.1040T>A (p.Ile347Asn) c.1112T>A (p.Ile371Asn) n.442T>A c.1223T>A (p.Ile408Asn) c.290T>A (p.Ile97Asn) | |
| X | g.55015596T>A | CA413293354 | ALAS2 | c.1150A>T (p.Ile384Phe) c.1039A>T (p.Ile347Phe) c.1111A>T (p.Ile371Phe) n.441A>T c.1222A>T (p.Ile408Phe) c.289A>T (p.Ile97Phe) | |
| X | g.55015596T>C | CA413293356 | ALAS2 | c.1150A>G (p.Ile384Val) c.1039A>G (p.Ile347Val) c.1111A>G (p.Ile371Val) n.441A>G c.1222A>G (p.Ile408Val) c.289A>G (p.Ile97Val) | gnomAD v4 |
| X | g.55015596T>G | CA413293358 | ALAS2 | c.1150A>C (p.Ile384Leu) c.1039A>C (p.Ile347Leu) c.1111A>C (p.Ile371Leu) n.441A>C c.1222A>C (p.Ile408Leu) c.289A>C (p.Ile97Leu) | |
| X | g.55015597G>A | CA516582322 | ALAS2 | c.1149C>T (p.Asp383=) c.1038C>T (p.Asp346=) c.1110C>T (p.Asp370=) n.440C>T c.1221C>T (p.Asp407=) c.288C>T (p.Asp96=) | gnomAD v4 |
| X | g.55015597G>C | CA413293361 | ALAS2 | c.1149C>G (p.Asp383Glu) c.1038C>G (p.Asp346Glu) c.1110C>G (p.Asp370Glu) n.440C>G c.1221C>G (p.Asp407Glu) c.288C>G (p.Asp96Glu) | |
| X | g.55015597G>T | CA413293359 | ALAS2 | c.1149C>A (p.Asp383Glu) c.1038C>A (p.Asp346Glu) c.1110C>A (p.Asp370Glu) n.440C>A c.1221C>A (p.Asp407Glu) c.288C>A (p.Asp96Glu) | |
| X | g.55015598T>A | CA413293363 | ALAS2 | c.1148A>T (p.Asp383Val) c.1037A>T (p.Asp346Val) c.1109A>T (p.Asp370Val) n.439A>T c.1220A>T (p.Asp407Val) c.287A>T (p.Asp96Val) | |
| X | g.55015598T>C | CA413293364 | ALAS2 | c.1148A>G (p.Asp383Gly) c.1037A>G (p.Asp346Gly) c.1109A>G (p.Asp370Gly) n.439A>G c.1220A>G (p.Asp407Gly) c.287A>G (p.Asp96Gly) | |
| X | g.55015598T>G | CA413293366 | ALAS2 | c.1148A>C (p.Asp383Ala) c.1037A>C (p.Asp346Ala) c.1109A>C (p.Asp370Ala) n.439A>C c.1220A>C (p.Asp407Ala) c.287A>C (p.Asp96Ala) | |
| X | g.55015599C>A | CA413293367 | ALAS2 | c.1147G>T (p.Asp383Tyr) c.1036G>T (p.Asp346Tyr) c.1108G>T (p.Asp370Tyr) n.438G>T c.1219G>T (p.Asp407Tyr) c.286G>T (p.Asp96Tyr) | |
| X | g.55015599C>G | CA413293368 | ALAS2 | c.1147G>C (p.Asp383His) c.1036G>C (p.Asp346His) c.1108G>C (p.Asp370His) n.438G>C c.1219G>C (p.Asp407His) c.286G>C (p.Asp96His) | |
| X | g.55015599C>T | CA413293370 | ALAS2 | c.1147G>A (p.Asp383Asn) c.1036G>A (p.Asp346Asn) c.1108G>A (p.Asp370Asn) n.438G>A c.1219G>A (p.Asp407Asn) c.286G>A (p.Asp96Asn) | |
| X | g.55015600A= | CA2430390709 | ALAS2 | c.1146T= (p.Ile382=) c.1035T= (p.Ile345=) c.1107T= (p.Ile369=) n.437T= c.1218T= (p.Ile406=) c.285T= (p.Ile95=) | |
| X | g.55015600A>C | CA413293372 | ALAS2 | c.1146T>G (p.Ile382Met) c.1035T>G (p.Ile345Met) c.1107T>G (p.Ile369Met) n.437T>G c.1218T>G (p.Ile406Met) c.285T>G (p.Ile95Met) | |
| X | g.55015600A>G | CA328970989 | ALAS2 | c.1146T>C (p.Ile382=) c.1035T>C (p.Ile345=) c.1107T>C (p.Ile369=) n.437T>C c.1218T>C (p.Ile406=) c.285T>C (p.Ile95=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.55015600A>T | CA516582329 | ALAS2 | c.1146T>A (p.Ile382=) c.1035T>A (p.Ile345=) c.1107T>A (p.Ile369=) n.437T>A c.1218T>A (p.Ile406=) c.285T>A (p.Ile95=) | |
| X | g.55015601A= | CA2430390710 | ALAS2 | c.1145T= (p.Ile382=) c.1034T= (p.Ile345=) c.1106T= (p.Ile369=) n.436T= c.1217T= (p.Ile406=) c.284T= (p.Ile95=) | |
| X | g.55015601A>C | CA413293374 | ALAS2 | c.1145T>G (p.Ile382Ser) c.1034T>G (p.Ile345Ser) c.1106T>G (p.Ile369Ser) n.436T>G c.1217T>G (p.Ile406Ser) c.284T>G (p.Ile95Ser) | |
| X | g.55015601A>G | CA413293375 | ALAS2 | c.1145T>C (p.Ile382Thr) c.1034T>C (p.Ile345Thr) c.1106T>C (p.Ile369Thr) n.436T>C c.1217T>C (p.Ile406Thr) c.284T>C (p.Ile95Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.55015601A>T | CA413293377 | ALAS2 | c.1145T>A (p.Ile382Asn) c.1034T>A (p.Ile345Asn) c.1106T>A (p.Ile369Asn) n.436T>A c.1217T>A (p.Ile406Asn) c.284T>A (p.Ile95Asn) | |
| X | g.55015602T>A | CA413293379 | ALAS2 | c.1144A>T (p.Ile382Phe) c.1033A>T (p.Ile345Phe) c.1105A>T (p.Ile369Phe) n.435A>T c.1216A>T (p.Ile406Phe) c.283A>T (p.Ile95Phe) | |
| X | g.55015602T>C | CA413293381 | ALAS2 | c.1144A>G (p.Ile382Val) c.1033A>G (p.Ile345Val) c.1105A>G (p.Ile369Val) n.435A>G c.1216A>G (p.Ile406Val) c.283A>G (p.Ile95Val) | |
| X | g.55015602T>G | CA413293382 | ALAS2 | c.1144A>C (p.Ile382Leu) c.1033A>C (p.Ile345Leu) c.1105A>C (p.Ile369Leu) n.435A>C c.1216A>C (p.Ile406Leu) c.283A>C (p.Ile95Leu) | |
| X | g.55015603C>A | CA413293384 | ALAS2 | c.1143G>T (p.Lys381Asn) c.1032G>T (p.Lys344Asn) c.1104G>T (p.Lys368Asn) n.434G>T c.1215G>T (p.Lys405Asn) c.282G>T (p.Lys94Asn) | |
| X | g.55015603C>G | CA413293386 | ALAS2 | c.1143G>C (p.Lys381Asn) c.1032G>C (p.Lys344Asn) c.1104G>C (p.Lys368Asn) n.434G>C c.1215G>C (p.Lys405Asn) c.282G>C (p.Lys94Asn) | |
| X | g.55015603C>T | CA516582339 | ALAS2 | c.1143G>A (p.Lys381=) c.1032G>A (p.Lys344=) c.1104G>A (p.Lys368=) n.434G>A c.1215G>A (p.Lys405=) c.282G>A (p.Lys94=) | |
| X | g.55015604T>A | CA413293387 | ALAS2 | c.1142A>T (p.Lys381Met) c.1031A>T (p.Lys344Met) c.1103A>T (p.Lys368Met) n.433A>T c.1214A>T (p.Lys405Met) c.281A>T (p.Lys94Met) | |
| X | g.55015604T>C | CA413293389 | ALAS2 | c.1142A>G (p.Lys381Arg) c.1031A>G (p.Lys344Arg) c.1103A>G (p.Lys368Arg) n.433A>G c.1214A>G (p.Lys405Arg) c.281A>G (p.Lys94Arg) | |
| X | g.55015604T>G | CA413293390 | ALAS2 | c.1142A>C (p.Lys381Thr) c.1031A>C (p.Lys344Thr) c.1103A>C (p.Lys368Thr) n.433A>C c.1214A>C (p.Lys405Thr) c.281A>C (p.Lys94Thr) | |
| X | g.55015605T>A | CA413293392 | ALAS2 | c.1141A>T (p.Lys381Ter) c.1030A>T (p.Lys344Ter) c.1102A>T (p.Lys368Ter) n.432A>T c.1213A>T (p.Lys405Ter) c.280A>T (p.Lys94Ter) | |
| X | g.55015605T>C | CA413293394 | ALAS2 | c.1141A>G (p.Lys381Glu) c.1030A>G (p.Lys344Glu) c.1102A>G (p.Lys368Glu) n.432A>G c.1213A>G (p.Lys405Glu) c.280A>G (p.Lys94Glu) | gnomAD v4 |
| X | g.55015605T>G | CA413293395 | ALAS2 | c.1141A>C (p.Lys381Gln) c.1030A>C (p.Lys344Gln) c.1102A>C (p.Lys368Gln) n.432A>C c.1213A>C (p.Lys405Gln) c.280A>C (p.Lys94Gln) | |
| X | g.55015606A>C | CA413293398 | ALAS2 | c.1140T>G (p.His380Gln) c.1029T>G (p.His343Gln) c.1101T>G (p.His367Gln) n.431T>G c.1212T>G (p.His404Gln) c.279T>G (p.His93Gln) | |
| X | g.55015606A>G | CA516582347 | ALAS2 | c.1140T>C (p.His380=) c.1029T>C (p.His343=) c.1101T>C (p.His367=) n.431T>C c.1212T>C (p.His404=) c.279T>C (p.His93=) | |
| X | g.55015606A>T | CA413293396 | ALAS2 | c.1140T>A (p.His380Gln) c.1029T>A (p.His343Gln) c.1101T>A (p.His367Gln) n.431T>A c.1212T>A (p.His404Gln) c.279T>A (p.His93Gln) | |
| X | g.55015607T>A | CA413293400 | ALAS2 | c.1139A>T (p.His380Leu) c.1028A>T (p.His343Leu) c.1100A>T (p.His367Leu) n.430A>T c.1211A>T (p.His404Leu) c.278A>T (p.His93Leu) | |
| X | g.55015607T>C | CA413293401 | ALAS2 | c.1139A>G (p.His380Arg) c.1028A>G (p.His343Arg) c.1100A>G (p.His367Arg) n.430A>G c.1211A>G (p.His404Arg) c.278A>G (p.His93Arg) | |
| X | g.55015607T>G | CA413293402 | ALAS2 | c.1139A>C (p.His380Pro) c.1028A>C (p.His343Pro) c.1100A>C (p.His367Pro) n.430A>C c.1211A>C (p.His404Pro) c.278A>C (p.His93Pro) | |
| X | g.55015608G>A | CA413293403 | ALAS2 | c.1138C>T (p.His380Tyr) c.1027C>T (p.His343Tyr) c.1099C>T (p.His367Tyr) n.429C>T c.1210C>T (p.His404Tyr) c.277C>T (p.His93Tyr) | |
| X | g.55015608G>C | CA413293404 | ALAS2 | c.1138C>G (p.His380Asp) c.1027C>G (p.His343Asp) c.1099C>G (p.His367Asp) n.429C>G c.1210C>G (p.His404Asp) c.277C>G (p.His93Asp) | |
| X | g.55015608G>T | CA413293406 | ALAS2 | c.1138C>A (p.His380Asn) c.1027C>A (p.His343Asn) c.1099C>A (p.His367Asn) n.429C>A c.1210C>A (p.His404Asn) c.277C>A (p.His93Asn) | |
| X | g.55015609C>A | CA413293408 | ALAS2 | c.1137G>T (p.Met379Ile) c.1026G>T (p.Met342Ile) c.1098G>T (p.Met366Ile) n.428G>T c.1209G>T (p.Met403Ile) c.276G>T (p.Met92Ile) | |
| X | g.55015609C>G | CA413293411 | ALAS2 | c.1137G>C (p.Met379Ile) c.1026G>C (p.Met342Ile) c.1098G>C (p.Met366Ile) n.428G>C c.1209G>C (p.Met403Ile) c.276G>C (p.Met92Ile) | |
| X | g.55015609C>T | CA413293409 | ALAS2 | c.1137G>A (p.Met379Ile) c.1026G>A (p.Met342Ile) c.1098G>A (p.Met366Ile) n.428G>A c.1209G>A (p.Met403Ile) c.276G>A (p.Met92Ile) | |
| X | g.55015610A= | CA2430390711 | ALAS2 | c.1136T= (p.Met379=) c.1025T= (p.Met342=) c.1097T= (p.Met366=) n.427T= c.1208T= (p.Met403=) c.275T= (p.Met92=) | |
| X | g.55015610A>C | CA413293413 | ALAS2 | c.1136T>G (p.Met379Arg) c.1025T>G (p.Met342Arg) c.1097T>G (p.Met366Arg) n.427T>G c.1208T>G (p.Met403Arg) c.275T>G (p.Met92Arg) | |
| X | g.55015610A>G | CA321862 | ALAS2 | c.1136T>C (p.Met379Thr) c.1025T>C (p.Met342Thr) c.1097T>C (p.Met366Thr) n.427T>C c.1208T>C (p.Met403Thr) c.275T>C (p.Met92Thr) | ClinVar dbSNP |
| X | g.55015610A>T | CA413293415 | ALAS2 | c.1136T>A (p.Met379Lys) c.1025T>A (p.Met342Lys) c.1097T>A (p.Met366Lys) n.427T>A c.1208T>A (p.Met403Lys) c.275T>A (p.Met92Lys) | |
| X | g.55015611T>A | CA413293417 | ALAS2 | c.1135A>T (p.Met379Leu) c.1024A>T (p.Met342Leu) c.1096A>T (p.Met366Leu) n.426A>T c.1207A>T (p.Met403Leu) c.274A>T (p.Met92Leu) | |
| X | g.55015611T>C | CA413293418 | ALAS2 | c.1135A>G (p.Met379Val) c.1024A>G (p.Met342Val) c.1096A>G (p.Met366Val) n.426A>G c.1207A>G (p.Met403Val) c.274A>G (p.Met92Val) | |
| X | g.55015611T>G | CA413293420 | ALAS2 | c.1135A>C (p.Met379Leu) c.1024A>C (p.Met342Leu) c.1096A>C (p.Met366Leu) n.426A>C c.1207A>C (p.Met403Leu) c.274A>C (p.Met92Leu) | |
| X | g.55015612A>C | CA413293422 | ALAS2 | c.1134T>G (p.Ile378Met) c.1023T>G (p.Ile341Met) c.1095T>G (p.Ile365Met) n.425T>G c.1206T>G (p.Ile402Met) c.273T>G (p.Ile91Met) | |
| X | g.55015612A>G | CA516582360 | ALAS2 | c.1134T>C (p.Ile378=) c.1023T>C (p.Ile341=) c.1095T>C (p.Ile365=) n.425T>C c.1206T>C (p.Ile402=) c.273T>C (p.Ile91=) | |
| X | g.55015612A>T | CA516582362 | ALAS2 | c.1134T>A (p.Ile378=) c.1023T>A (p.Ile341=) c.1095T>A (p.Ile365=) n.425T>A c.1206T>A (p.Ile402=) c.273T>A (p.Ile91=) | |
| X | g.55015613A>C | CA413293423 | ALAS2 | c.1133T>G (p.Ile378Ser) c.1022T>G (p.Ile341Ser) c.1094T>G (p.Ile365Ser) n.424T>G c.1205T>G (p.Ile402Ser) c.272T>G (p.Ile91Ser) | |
| X | g.55015613A>G | CA413293426 | ALAS2 | c.1133T>C (p.Ile378Thr) c.1022T>C (p.Ile341Thr) c.1094T>C (p.Ile365Thr) n.424T>C c.1205T>C (p.Ile402Thr) c.272T>C (p.Ile91Thr) | |
| X | g.55015613A>T | CA413293427 | ALAS2 | c.1133T>A (p.Ile378Asn) c.1022T>A (p.Ile341Asn) c.1094T>A (p.Ile365Asn) n.424T>A c.1205T>A (p.Ile402Asn) c.272T>A (p.Ile91Asn) | |
| X | g.55015614T>A | CA413293432 | ALAS2 | c.1132A>T (p.Ile378Phe) c.1021A>T (p.Ile341Phe) c.1093A>T (p.Ile365Phe) n.423A>T c.1204A>T (p.Ile402Phe) c.271A>T (p.Ile91Phe) | |
| X | g.55015614T>C | CA413293431 | ALAS2 | c.1132A>G (p.Ile378Val) c.1021A>G (p.Ile341Val) c.1093A>G (p.Ile365Val) n.423A>G c.1204A>G (p.Ile402Val) c.271A>G (p.Ile91Val) | gnomAD v4 |
| X | g.55015614T>G | CA413293429 | ALAS2 | c.1132A>C (p.Ile378Leu) c.1021A>C (p.Ile341Leu) c.1093A>C (p.Ile365Leu) n.423A>C c.1204A>C (p.Ile402Leu) c.271A>C (p.Ile91Leu) | |
| X | g.55015615T>A | CA516582368 | ALAS2 | c.1131A>T (p.Gly377=) c.1020A>T (p.Gly340=) c.1092A>T (p.Gly364=) n.422A>T c.1203A>T (p.Gly401=) c.270A>T (p.Gly90=) | |
| X | g.55015615T>C | CA516582370 | ALAS2 | c.1131A>G (p.Gly377=) c.1020A>G (p.Gly340=) c.1092A>G (p.Gly364=) n.422A>G c.1203A>G (p.Gly401=) c.270A>G (p.Gly90=) | |
| X | g.55015615T>G | CA516582371 | ALAS2 | c.1131A>C (p.Gly377=) c.1020A>C (p.Gly340=) c.1092A>C (p.Gly364=) n.422A>C c.1203A>C (p.Gly401=) c.270A>C (p.Gly90=) | |
| X | g.55015616C>A | CA413293434 | ALAS2 | c.1130G>T (p.Gly377Val) c.1019G>T (p.Gly340Val) c.1091G>T (p.Gly364Val) n.421G>T c.1202G>T (p.Gly401Val) c.269G>T (p.Gly90Val) | |
| X | g.55015616C>G | CA413293436 | ALAS2 | c.1130G>C (p.Gly377Ala) c.1019G>C (p.Gly340Ala) c.1091G>C (p.Gly364Ala) n.421G>C c.1202G>C (p.Gly401Ala) c.269G>C (p.Gly90Ala) | |
| X | g.55015616C>T | CA413293435 | ALAS2 | c.1130G>A (p.Gly377Glu) c.1019G>A (p.Gly340Glu) c.1091G>A (p.Gly364Glu) n.421G>A c.1202G>A (p.Gly401Glu) c.269G>A (p.Gly90Glu) | |
| X | g.55015617C>A | CA413293438 | ALAS2 | c.1129G>T (p.Gly377Ter) c.1018G>T (p.Gly340Ter) c.1090G>T (p.Gly364Ter) n.420G>T c.1201G>T (p.Gly401Ter) c.268G>T (p.Gly90Ter) | |
| X | g.55015617C>G | CA413293439 | ALAS2 | c.1129G>C (p.Gly377Arg) c.1018G>C (p.Gly340Arg) c.1090G>C (p.Gly364Arg) n.420G>C c.1201G>C (p.Gly401Arg) c.268G>C (p.Gly90Arg) | |
| X | g.55015617C>T | CA413293441 | ALAS2 | c.1129G>A (p.Gly377Arg) c.1018G>A (p.Gly340Arg) c.1090G>A (p.Gly364Arg) n.420G>A c.1201G>A (p.Gly401Arg) c.268G>A (p.Gly90Arg) | |
| X | g.55015618A>C | CA413293443 | ALAS2 | c.1128T>G (p.Asp376Glu) c.1017T>G (p.Asp339Glu) c.1089T>G (p.Asp363Glu) n.419T>G c.1200T>G (p.Asp400Glu) c.267T>G (p.Asp89Glu) | |
| X | g.55015618A>G | CA516582382 | ALAS2 | c.1128T>C (p.Asp376=) c.1017T>C (p.Asp339=) c.1089T>C (p.Asp363=) n.419T>C c.1200T>C (p.Asp400=) c.267T>C (p.Asp89=) | |
| X | g.55015618A>T | CA413293445 | ALAS2 | c.1128T>A (p.Asp376Glu) c.1017T>A (p.Asp339Glu) c.1089T>A (p.Asp363Glu) n.419T>A c.1200T>A (p.Asp400Glu) c.267T>A (p.Asp89Glu) | |
| X | g.55015619T>A | CA413293446 | ALAS2 | c.1127A>T (p.Asp376Val) c.1016A>T (p.Asp339Val) c.1088A>T (p.Asp363Val) n.418A>T c.1199A>T (p.Asp400Val) c.266A>T (p.Asp89Val) | |
| X | g.55015619T>C | CA413293447 | ALAS2 | c.1127A>G (p.Asp376Gly) c.1016A>G (p.Asp339Gly) c.1088A>G (p.Asp363Gly) n.418A>G c.1199A>G (p.Asp400Gly) c.266A>G (p.Asp89Gly) | |
| X | g.55015619T>G | CA413293449 | ALAS2 | c.1127A>C (p.Asp376Ala) c.1016A>C (p.Asp339Ala) c.1088A>C (p.Asp363Ala) n.418A>C c.1199A>C (p.Asp400Ala) c.266A>C (p.Asp89Ala) | |
| X | g.55015620C>A | CA413293450 | ALAS2 | c.1126G>T (p.Asp376Tyr) c.1015G>T (p.Asp339Tyr) c.1087G>T (p.Asp363Tyr) n.417G>T c.1198G>T (p.Asp400Tyr) c.265G>T (p.Asp89Tyr) | |
| X | g.55015620C>G | CA413293452 | ALAS2 | c.1126G>C (p.Asp376His) c.1015G>C (p.Asp339His) c.1087G>C (p.Asp363His) n.417G>C c.1198G>C (p.Asp400His) c.265G>C (p.Asp89His) | |
| X | g.55015620C>T | CA413293454 | ALAS2 | c.1126G>A (p.Asp376Asn) c.1015G>A (p.Asp339Asn) c.1087G>A (p.Asp363Asn) n.417G>A c.1198G>A (p.Asp400Asn) c.265G>A (p.Asp89Asn) | |
| X | g.55015621A>C | CA516582392 | ALAS2 | c.1125T>G (p.Arg375=) c.1014T>G (p.Arg338=) c.1086T>G (p.Arg362=) n.416T>G c.1197T>G (p.Arg399=) c.264T>G (p.Arg88=) | |
| X | g.55015621A>G | CA516582394 | ALAS2 | c.1125T>C (p.Arg375=) c.1014T>C (p.Arg338=) c.1086T>C (p.Arg362=) n.416T>C c.1197T>C (p.Arg399=) c.264T>C (p.Arg88=) | |
| X | g.55015621A>T | CA516582395 | ALAS2 | c.1125T>A (p.Arg375=) c.1014T>A (p.Arg338=) c.1086T>A (p.Arg362=) n.416T>A c.1197T>A (p.Arg399=) c.264T>A (p.Arg88=) | |
| X | g.55015622C>A | CA413293458 | ALAS2 | c.1124G>T (p.Arg375Leu) c.1013G>T (p.Arg338Leu) c.1085G>T (p.Arg362Leu) n.415G>T c.1196G>T (p.Arg399Leu) c.263G>T (p.Arg88Leu) | |
| X | g.55015622C= | CA2430390712 | ALAS2 | c.1124G= (p.Arg375=) c.1013G= (p.Arg338=) c.1085G= (p.Arg362=) n.415G= c.1196G= (p.Arg399=) c.263G= (p.Arg88=) | |
| X | g.55015622C>G | CA413293456 | ALAS2 | c.1124G>C (p.Arg375Pro) c.1013G>C (p.Arg338Pro) c.1085G>C (p.Arg362Pro) n.415G>C c.1196G>C (p.Arg399Pro) c.263G>C (p.Arg88Pro) | COSMIC COSMIC COSMIC |
| X | g.55015622C>T | CA10428337 | ALAS2 | c.1124G>A (p.Arg375His) c.1013G>A (p.Arg338His) c.1085G>A (p.Arg362His) n.415G>A c.1196G>A (p.Arg399His) c.263G>A (p.Arg88His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.55015623G>A | CA413293459 | ALAS2 | c.1123C>T (p.Arg375Cys) c.1012C>T (p.Arg338Cys) c.1084C>T (p.Arg362Cys) n.414C>T c.1195C>T (p.Arg399Cys) c.262C>T (p.Arg88Cys) | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.55015623G>C | CA413293461 | ALAS2 | c.1123C>G (p.Arg375Gly) c.1012C>G (p.Arg338Gly) c.1084C>G (p.Arg362Gly) n.414C>G c.1195C>G (p.Arg399Gly) c.262C>G (p.Arg88Gly) | |
| X | g.55015623G>T | CA413293462 | ALAS2 | c.1123C>A (p.Arg375Ser) c.1012C>A (p.Arg338Ser) c.1084C>A (p.Arg362Ser) n.414C>A c.1195C>A (p.Arg399Ser) c.262C>A (p.Arg88Ser) | |
| X | g.55015624C>A | CA413293464 | ALAS2 | c.1122G>T (p.Glu374Asp) c.1011G>T (p.Glu337Asp) c.1083G>T (p.Glu361Asp) n.413G>T c.1194G>T (p.Glu398Asp) c.261G>T (p.Glu87Asp) | |
| X | g.55015624C>G | CA413293465 | ALAS2 | c.1122G>C (p.Glu374Asp) c.1011G>C (p.Glu337Asp) c.1083G>C (p.Glu361Asp) n.413G>C c.1194G>C (p.Glu398Asp) c.261G>C (p.Glu87Asp) | |
| X | g.55015624C>T | CA516582401 | ALAS2 | c.1122G>A (p.Glu374=) c.1011G>A (p.Glu337=) c.1083G>A (p.Glu361=) n.413G>A c.1194G>A (p.Glu398=) c.261G>A (p.Glu87=) | |
| X | g.55015625T>A | CA413293466 | ALAS2 | c.1121A>T (p.Glu374Val) c.1010A>T (p.Glu337Val) c.1082A>T (p.Glu361Val) n.412A>T c.1193A>T (p.Glu398Val) c.260A>T (p.Glu87Val) | |
| X | g.55015625T>C | CA413293467 | ALAS2 | c.1121A>G (p.Glu374Gly) c.1010A>G (p.Glu337Gly) c.1082A>G (p.Glu361Gly) n.412A>G c.1193A>G (p.Glu398Gly) c.260A>G (p.Glu87Gly) | |
| X | g.55015625T>G | CA413293469 | ALAS2 | c.1121A>C (p.Glu374Ala) c.1010A>C (p.Glu337Ala) c.1082A>C (p.Glu361Ala) n.412A>C c.1193A>C (p.Glu398Ala) c.260A>C (p.Glu87Ala) | |
| X | g.55015626C>A | CA413293471 | ALAS2 | c.1120G>T (p.Glu374Ter) c.1009G>T (p.Glu337Ter) c.1081G>T (p.Glu361Ter) n.411G>T c.1192G>T (p.Glu398Ter) c.259G>T (p.Glu87Ter) | |
| X | g.55015626C>G | CA413293473 | ALAS2 | c.1120G>C (p.Glu374Gln) c.1009G>C (p.Glu337Gln) c.1081G>C (p.Glu361Gln) n.411G>C c.1192G>C (p.Glu398Gln) c.259G>C (p.Glu87Gln) | |
| X | g.55015626C>T | CA413293474 | ALAS2 | c.1120G>A (p.Glu374Lys) c.1009G>A (p.Glu337Lys) c.1081G>A (p.Glu361Lys) n.411G>A c.1192G>A (p.Glu398Lys) c.259G>A (p.Glu87Lys) | |
| X | g.55015627C>A | CA516582403 | ALAS2 | c.1119G>T (p.Gly373=) c.1008G>T (p.Gly336=) c.1080G>T (p.Gly360=) n.410G>T c.1191G>T (p.Gly397=) c.258G>T (p.Gly86=) | |
| X | g.55015627C>G | CA516582405 | ALAS2 | c.1119G>C (p.Gly373=) c.1008G>C (p.Gly336=) c.1080G>C (p.Gly360=) n.410G>C c.1191G>C (p.Gly397=) c.258G>C (p.Gly86=) | |
| X | g.55015627C>T | CA516582404 | ALAS2 | c.1119G>A (p.Gly373=) c.1008G>A (p.Gly336=) c.1080G>A (p.Gly360=) n.410G>A c.1191G>A (p.Gly397=) c.258G>A (p.Gly86=) | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.55015628C>A | CA413293478 | ALAS2 | c.1118G>T (p.Gly373Val) c.1007G>T (p.Gly336Val) c.1079G>T (p.Gly360Val) n.409G>T c.1190G>T (p.Gly397Val) c.257G>T (p.Gly86Val) | |
| X | g.55015628C>G | CA413293480 | ALAS2 | c.1118G>C (p.Gly373Ala) c.1007G>C (p.Gly336Ala) c.1079G>C (p.Gly360Ala) n.409G>C c.1190G>C (p.Gly397Ala) c.257G>C (p.Gly86Ala) | |
| X | g.55015628C>T | CA413293476 | ALAS2 | c.1118G>A (p.Gly373Glu) c.1007G>A (p.Gly336Glu) c.1079G>A (p.Gly360Glu) n.409G>A c.1190G>A (p.Gly397Glu) c.257G>A (p.Gly86Glu) | |
| X | g.55015629C>A | CA413293481 | ALAS2 | c.1117G>T (p.Gly373Trp) c.1006G>T (p.Gly336Trp) c.1078G>T (p.Gly360Trp) n.408G>T c.1189G>T (p.Gly397Trp) c.256G>T (p.Gly86Trp) | |
| X | g.55015629C>G | CA413293483 | ALAS2 | c.1117G>C (p.Gly373Arg) c.1006G>C (p.Gly336Arg) c.1078G>C (p.Gly360Arg) n.408G>C c.1189G>C (p.Gly397Arg) c.256G>C (p.Gly86Arg) | |
| X | g.55015629C>T | CA413293485 | ALAS2 | c.1117G>A (p.Gly373Arg) c.1006G>A (p.Gly336Arg) c.1078G>A (p.Gly360Arg) n.408G>A c.1189G>A (p.Gly397Arg) c.256G>A (p.Gly86Arg) | |
| X | g.55015630A>C | CA413293486 | ALAS2 | c.1116T>G (p.Ile372Met) c.1005T>G (p.Ile335Met) c.1077T>G (p.Ile359Met) n.407T>G c.1188T>G (p.Ile396Met) c.255T>G (p.Ile85Met) | |
| X | g.55015630A>G | CA516582406 | ALAS2 | c.1116T>C (p.Ile372=) c.1005T>C (p.Ile335=) c.1077T>C (p.Ile359=) n.407T>C c.1188T>C (p.Ile396=) c.255T>C (p.Ile85=) | |
| X | g.55015630A>T | CA516582407 | ALAS2 | c.1116T>A (p.Ile372=) c.1005T>A (p.Ile335=) c.1077T>A (p.Ile359=) n.407T>A c.1188T>A (p.Ile396=) c.255T>A (p.Ile85=) | |
| X | g.55015631A>C | CA413293488 | ALAS2 | c.1115T>G (p.Ile372Ser) c.1004T>G (p.Ile335Ser) c.1076T>G (p.Ile359Ser) n.406T>G c.1187T>G (p.Ile396Ser) c.254T>G (p.Ile85Ser) | |
| X | g.55015631A>G | CA413293490 | ALAS2 | c.1115T>C (p.Ile372Thr) c.1004T>C (p.Ile335Thr) c.1076T>C (p.Ile359Thr) n.406T>C c.1187T>C (p.Ile396Thr) c.254T>C (p.Ile85Thr) | |
| X | g.55015631A>T | CA413293492 | ALAS2 | c.1115T>A (p.Ile372Asn) c.1004T>A (p.Ile335Asn) c.1076T>A (p.Ile359Asn) n.406T>A c.1187T>A (p.Ile396Asn) c.254T>A (p.Ile85Asn) | |
| X | g.55015632T>A | CA413293493 | ALAS2 | c.1114A>T (p.Ile372Phe) c.1003A>T (p.Ile335Phe) c.1075A>T (p.Ile359Phe) n.405A>T c.1186A>T (p.Ile396Phe) c.253A>T (p.Ile85Phe) | |
| X | g.55015632T>C | CA413293495 | ALAS2 | c.1114A>G (p.Ile372Val) c.1003A>G (p.Ile335Val) c.1075A>G (p.Ile359Val) n.405A>G c.1186A>G (p.Ile396Val) c.253A>G (p.Ile85Val) | |
| X | g.55015632T>G | CA413293497 | ALAS2 | c.1114A>C (p.Ile372Leu) c.1003A>C (p.Ile335Leu) c.1075A>C (p.Ile359Leu) n.405A>C c.1186A>C (p.Ile396Leu) c.253A>C (p.Ile85Leu) | |
| X | g.55015633C>A | CA516582408 | ALAS2 | c.1113G>T (p.Gly371=) c.1002G>T (p.Gly334=) c.1074G>T (p.Gly358=) n.404G>T c.1185G>T (p.Gly395=) c.252G>T (p.Gly84=) | |
| X | g.55015633C>G | CA516582409 | ALAS2 | c.1113G>C (p.Gly371=) c.1002G>C (p.Gly334=) c.1074G>C (p.Gly358=) n.404G>C c.1185G>C (p.Gly395=) c.252G>C (p.Gly84=) | |
| X | g.55015633C>T | CA516582410 | ALAS2 | c.1113G>A (p.Gly371=) c.1002G>A (p.Gly334=) c.1074G>A (p.Gly358=) n.404G>A c.1185G>A (p.Gly395=) c.252G>A (p.Gly84=) | gnomAD v4 |
| X | g.55015634C>A | CA413293498 | ALAS2 | c.1112G>T (p.Gly371Val) c.1001G>T (p.Gly334Val) c.1073G>T (p.Gly358Val) n.403G>T c.1184G>T (p.Gly395Val) c.251G>T (p.Gly84Val) | |
| X | g.55015634C>G | CA413293499 | ALAS2 | c.1112G>C (p.Gly371Ala) c.1001G>C (p.Gly334Ala) c.1073G>C (p.Gly358Ala) n.403G>C c.1184G>C (p.Gly395Ala) c.251G>C (p.Gly84Ala) | |
| X | g.55015634C>T | CA413293500 | ALAS2 | c.1112G>A (p.Gly371Glu) c.1001G>A (p.Gly334Glu) c.1073G>A (p.Gly358Glu) n.403G>A c.1184G>A (p.Gly395Glu) c.251G>A (p.Gly84Glu) | |
| X | g.55015635C>A | CA413293506 | ALAS2 | c.1111G>T (p.Gly371Trp) c.1000G>T (p.Gly334Trp) c.1072G>T (p.Gly358Trp) n.402G>T c.1183G>T (p.Gly395Trp) c.250G>T (p.Gly84Trp) | |
| X | g.55015635C>G | CA413293504 | ALAS2 | c.1111G>C (p.Gly371Arg) c.1000G>C (p.Gly334Arg) c.1072G>C (p.Gly358Arg) n.402G>C c.1183G>C (p.Gly395Arg) c.250G>C (p.Gly84Arg) | |
| X | g.55015635C>T | CA413293503 | ALAS2 | c.1111G>A (p.Gly371Arg) c.1000G>A (p.Gly334Arg) c.1072G>A (p.Gly358Arg) n.402G>A c.1183G>A (p.Gly395Arg) c.250G>A (p.Gly84Arg) | |
| X | g.55015636A>C | CA516582412 | ALAS2 | c.1110T>G (p.Ala370=) c.999T>G (p.Ala333=) c.1071T>G (p.Ala357=) n.401T>G c.1182T>G (p.Ala394=) c.249T>G (p.Ala83=) | |
| X | g.55015636A>G | CA516582413 | ALAS2 | c.1110T>C (p.Ala370=) c.999T>C (p.Ala333=) c.1071T>C (p.Ala357=) n.401T>C c.1182T>C (p.Ala394=) c.249T>C (p.Ala83=) | gnomAD v4 |
| X | g.55015636A>T | CA516582414 | ALAS2 | c.1110T>A (p.Ala370=) c.999T>A (p.Ala333=) c.1071T>A (p.Ala357=) n.401T>A c.1182T>A (p.Ala394=) c.249T>A (p.Ala83=) | |
| X | g.55015637G>A | CA413293508 | ALAS2 | c.1109C>T (p.Ala370Val) c.998C>T (p.Ala333Val) c.1070C>T (p.Ala357Val) n.400C>T c.1181C>T (p.Ala394Val) c.248C>T (p.Ala83Val) | |
| X | g.55015637G>C | CA413293509 | ALAS2 | c.1109C>G (p.Ala370Gly) c.998C>G (p.Ala333Gly) c.1070C>G (p.Ala357Gly) n.400C>G c.1181C>G (p.Ala394Gly) c.248C>G (p.Ala83Gly) | |
| X | g.55015637G>T | CA413293510 | ALAS2 | c.1109C>A (p.Ala370Asp) c.998C>A (p.Ala333Asp) c.1070C>A (p.Ala357Asp) n.400C>A c.1181C>A (p.Ala394Asp) c.248C>A (p.Ala83Asp) | |
| X | g.55015638C>A | CA413293512 | ALAS2 | c.1108G>T (p.Ala370Ser) c.997G>T (p.Ala333Ser) c.1069G>T (p.Ala357Ser) n.399G>T c.1180G>T (p.Ala394Ser) c.247G>T (p.Ala83Ser) | |
| X | g.55015638C>G | CA413293513 | ALAS2 | c.1108G>C (p.Ala370Pro) c.997G>C (p.Ala333Pro) c.1069G>C (p.Ala357Pro) n.399G>C c.1180G>C (p.Ala394Pro) c.247G>C (p.Ala83Pro) | |
| X | g.55015638C>T | CA413293515 | ALAS2 | c.1108G>A (p.Ala370Thr) c.997G>A (p.Ala333Thr) c.1069G>A (p.Ala357Thr) n.399G>A c.1180G>A (p.Ala394Thr) c.247G>A (p.Ala83Thr) | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.55015639G>A | CA10428338 | ALAS2 | c.1107C>T (p.Gly369=) c.996C>T (p.Gly332=) c.1068C>T (p.Gly356=) n.398C>T c.1179C>T (p.Gly393=) c.246C>T (p.Gly82=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.55015639G>C | CA516582416 | ALAS2 | c.1107C>G (p.Gly369=) c.996C>G (p.Gly332=) c.1068C>G (p.Gly356=) n.398C>G c.1179C>G (p.Gly393=) c.246C>G (p.Gly82=) | |
| X | g.55015639G= | CA2430390713 | ALAS2 | c.1107C= (p.Gly369=) c.996C= (p.Gly332=) c.1068C= (p.Gly356=) n.398C= c.1179C= (p.Gly393=) c.246C= (p.Gly82=) | |
| X | g.55015639G>T | CA516582415 | ALAS2 | c.1107C>A (p.Gly369=) c.996C>A (p.Gly332=) c.1068C>A (p.Gly356=) n.398C>A c.1179C>A (p.Gly393=) c.246C>A (p.Gly82=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.55015640C>A | CA413293518 | ALAS2 | c.1106G>T (p.Gly369Val) c.995G>T (p.Gly332Val) c.1067G>T (p.Gly356Val) n.397G>T c.1178G>T (p.Gly393Val) c.245G>T (p.Gly82Val) | |
| X | g.55015640C= | CA2430390714 | ALAS2 | c.1106G= (p.Gly369=) c.995G= (p.Gly332=) c.1067G= (p.Gly356=) n.397G= c.1178G= (p.Gly393=) c.245G= (p.Gly82=) | |
| X | g.55015640C>G | CA413293519 | ALAS2 | c.1106G>C (p.Gly369Ala) c.995G>C (p.Gly332Ala) c.1067G>C (p.Gly356Ala) n.397G>C c.1178G>C (p.Gly393Ala) c.245G>C (p.Gly82Ala) | |
| X | g.55015640C>T | CA413293521 | ALAS2 | c.1106G>A (p.Gly369Asp) c.995G>A (p.Gly332Asp) c.1067G>A (p.Gly356Asp) n.397G>A c.1178G>A (p.Gly393Asp) c.245G>A (p.Gly82Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.55015643del | CA2579624275 | ALAS2 | c.1106del (p.Gly369AlafsTer?) c.995del (p.Gly332AlafsTer?) c.1067del (p.Gly356AlafsTer?) n.397del c.1178del (p.Gly393AlafsTer?) c.245del (p.Gly82AlafsTer?) | |
| X | g.55015641C>A | CA413293523 | ALAS2 | c.1105G>T (p.Gly369Cys) c.994G>T (p.Gly332Cys) c.1066G>T (p.Gly356Cys) n.396G>T c.1177G>T (p.Gly393Cys) c.244G>T (p.Gly82Cys) | |
| X | g.55015641C= | CA2430390715 | ALAS2 | c.1105G= (p.Gly369=) c.994G= (p.Gly332=) c.1066G= (p.Gly356=) n.396G= c.1177G= (p.Gly393=) c.244G= (p.Gly82=) | |
| X | g.55015641C>G | CA413293525 | ALAS2 | c.1105G>C (p.Gly369Arg) c.994G>C (p.Gly332Arg) c.1066G>C (p.Gly356Arg) n.396G>C c.1177G>C (p.Gly393Arg) c.244G>C (p.Gly82Arg) | |
| X | g.55015641C>T | CA328971023 | ALAS2 | c.1105G>A (p.Gly369Ser) c.994G>A (p.Gly332Ser) c.1066G>A (p.Gly356Ser) n.396G>A c.1177G>A (p.Gly393Ser) c.244G>A (p.Gly82Ser) | dbSNP |
| X | g.55015642C>A | CA516582419 | ALAS2 | c.1104G>T (p.Arg368=) c.993G>T (p.Arg331=) c.1065G>T (p.Arg355=) n.395G>T c.1176G>T (p.Arg392=) c.243G>T (p.Arg81=) | |
| X | g.55015642C>G | CA516582420 | ALAS2 | c.1104G>C (p.Arg368=) c.993G>C (p.Arg331=) c.1065G>C (p.Arg355=) n.395G>C c.1176G>C (p.Arg392=) c.243G>C (p.Arg81=) | |
| X | g.55015642C>T | CA516582421 | ALAS2 | c.1104G>A (p.Arg368=) c.993G>A (p.Arg331=) c.1065G>A (p.Arg355=) n.395G>A c.1176G>A (p.Arg392=) c.243G>A (p.Arg81=) | |
| X | g.55015643C>A | CA413293527 | ALAS2 | c.1103G>T (p.Arg368Leu) c.992G>T (p.Arg331Leu) c.1064G>T (p.Arg355Leu) n.394G>T c.1175G>T (p.Arg392Leu) c.242G>T (p.Arg81Leu) | |
| X | g.55015643C= | CA2430390716 | ALAS2 | c.1103G= (p.Arg368=) c.992G= (p.Arg331=) c.1064G= (p.Arg355=) n.394G= c.1175G= (p.Arg392=) c.242G= (p.Arg81=) | |
| X | g.55015643C>G | CA413293529 | ALAS2 | c.1103G>C (p.Arg368Pro) c.992G>C (p.Arg331Pro) c.1064G>C (p.Arg355Pro) n.394G>C c.1175G>C (p.Arg392Pro) c.242G>C (p.Arg81Pro) | |
| X | g.55015643C>T | CA10428339 | ALAS2 | c.1103G>A (p.Arg368Gln) c.992G>A (p.Arg331Gln) c.1064G>A (p.Arg355Gln) n.394G>A c.1175G>A (p.Arg392Gln) c.242G>A (p.Arg81Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.55015644G>A | CA413293531 | ALAS2 | c.1102C>T (p.Arg368Trp) c.991C>T (p.Arg331Trp) c.1063C>T (p.Arg355Trp) n.393C>T c.1174C>T (p.Arg392Trp) c.241C>T (p.Arg81Trp) | |
| X | g.55015644G>C | CA413293532 | ALAS2 | c.1102C>G (p.Arg368Gly) c.991C>G (p.Arg331Gly) c.1063C>G (p.Arg355Gly) n.393C>G c.1174C>G (p.Arg392Gly) c.241C>G (p.Arg81Gly) | |
| X | g.55015644G>T | CA516582424 | ALAS2 | c.1102C>A (p.Arg368=) c.991C>A (p.Arg331=) c.1063C>A (p.Arg355=) n.393C>A c.1174C>A (p.Arg392=) c.241C>A (p.Arg81=) | |
| X | g.55015645G>A | CA516582427 | ALAS2 | c.1101C>T (p.Ser367=) c.990C>T (p.Ser330=) c.1062C>T (p.Ser354=) n.392C>T c.1173C>T (p.Ser391=) c.240C>T (p.Ser80=) | |
| X | g.55015645G>C | CA516582428 | ALAS2 | c.1101C>G (p.Ser367=) c.990C>G (p.Ser330=) c.1062C>G (p.Ser354=) n.392C>G c.1173C>G (p.Ser391=) c.240C>G (p.Ser80=) | |
| X | g.55015645G>T | CA516582429 | ALAS2 | c.1101C>A (p.Ser367=) c.990C>A (p.Ser330=) c.1062C>A (p.Ser354=) n.392C>A c.1173C>A (p.Ser391=) c.240C>A (p.Ser80=) | |
| X | g.55015646G>A | CA413293534 | ALAS2 | c.1100C>T (p.Ser367Phe) c.989C>T (p.Ser330Phe) c.1061C>T (p.Ser354Phe) n.391C>T c.1172C>T (p.Ser391Phe) c.239C>T (p.Ser80Phe) | |
| X | g.55015646G>C | CA413293538 | ALAS2 | c.1100C>G (p.Ser367Cys) c.989C>G (p.Ser330Cys) c.1061C>G (p.Ser354Cys) n.391C>G c.1172C>G (p.Ser391Cys) c.239C>G (p.Ser80Cys) | |
| X | g.55015646G>T | CA413293536 | ALAS2 | c.1100C>A (p.Ser367Tyr) c.989C>A (p.Ser330Tyr) c.1061C>A (p.Ser354Tyr) n.391C>A c.1172C>A (p.Ser391Tyr) c.239C>A (p.Ser80Tyr) | |
| X | g.55015647A>C | CA413293539 | ALAS2 | c.1099T>G (p.Ser367Ala) c.988T>G (p.Ser330Ala) c.1060T>G (p.Ser354Ala) n.390T>G c.1171T>G (p.Ser391Ala) c.238T>G (p.Ser80Ala) | |
| X | g.55015647A>G | CA413293540 | ALAS2 | c.1099T>C (p.Ser367Pro) c.988T>C (p.Ser330Pro) c.1060T>C (p.Ser354Pro) n.390T>C c.1171T>C (p.Ser391Pro) c.238T>C (p.Ser80Pro) | |
| X | g.55015647A>T | CA413293543 | ALAS2 | c.1099T>A (p.Ser367Thr) c.988T>A (p.Ser330Thr) c.1060T>A (p.Ser354Thr) n.390T>A c.1171T>A (p.Ser391Thr) c.238T>A (p.Ser80Thr) | |
| X | g.55015648C>A | CA516582430 | ALAS2 | c.1098G>T (p.Gly366=) c.987G>T (p.Gly329=) c.1059G>T (p.Gly353=) n.389G>T c.1170G>T (p.Gly390=) c.237G>T (p.Gly79=) | |
| X | g.55015648C>G | CA516582431 | ALAS2 | c.1098G>C (p.Gly366=) c.987G>C (p.Gly329=) c.1059G>C (p.Gly353=) n.389G>C c.1170G>C (p.Gly390=) c.237G>C (p.Gly79=) | |
| X | g.55015648C>T | CA516582432 | ALAS2 | c.1098G>A (p.Gly366=) c.987G>A (p.Gly329=) c.1059G>A (p.Gly353=) n.389G>A c.1170G>A (p.Gly390=) c.237G>A (p.Gly79=) | gnomAD v4 |
| X | g.55015649C>A | CA413293544 | ALAS2 | c.1097G>T (p.Gly366Val) c.986G>T (p.Gly329Val) c.1058G>T (p.Gly353Val) n.388G>T c.1169G>T (p.Gly390Val) c.236G>T (p.Gly79Val) | |
| X | g.55015649C>G | CA413293546 | ALAS2 | c.1097G>C (p.Gly366Ala) c.986G>C (p.Gly329Ala) c.1058G>C (p.Gly353Ala) n.388G>C c.1169G>C (p.Gly390Ala) c.236G>C (p.Gly79Ala) | COSMIC |
| X | g.55015649C>T | CA413293547 | ALAS2 | c.1097G>A (p.Gly366Glu) c.986G>A (p.Gly329Glu) c.1058G>A (p.Gly353Glu) n.388G>A c.1169G>A (p.Gly390Glu) c.236G>A (p.Gly79Glu) | COSMIC COSMIC COSMIC |