UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154532752C>A | CA415234224 | G6PD | c.1102G>T (p.Glu368Ter) c.1105G>T (p.Glu369Ter) c.965G>T c.968G>T c.954G>T (n.954G>T) c.*15G>T (n.*15G>T) c.*562G>T (n.*562G>T) c.*62G>T (n.*62G>T) c.*944G>T (n.*944G>T) c.1240G>T (p.Glu414Ter) c.1192G>T (p.Glu398Ter) n.323G>T c.1195G>T (p.Glu399Ter) | |
| X | g.154532752C= | CA2466723468 | G6PD | c.1102G= (p.Glu368=) c.1105G= (p.Glu369=) c.965G= c.968G= c.954G= (n.954G=) c.*15G= (n.*15G=) c.*562G= (n.*562G=) c.*62G= (n.*62G=) c.*944G= (n.*944G=) c.1240G= (p.Glu414=) c.1192G= (p.Glu398=) n.323G= c.1195G= (p.Glu399=) | |
| X | g.154532752C>G | CA415234225 | G6PD | c.1102G>C (p.Glu368Gln) c.1105G>C (p.Glu369Gln) c.965G>C c.968G>C c.954G>C (n.954G>C) c.*15G>C (n.*15G>C) c.*562G>C (n.*562G>C) c.*62G>C (n.*62G>C) c.*944G>C (n.*944G>C) c.1240G>C (p.Glu414Gln) c.1192G>C (p.Glu398Gln) n.323G>C c.1195G>C (p.Glu399Gln) | |
| X | g.154532752C>T | CA120981 | G6PD | c.1102G>A (p.Glu368Lys) c.1105G>A (p.Glu369Lys) c.965G>A c.968G>A c.954G>A (n.954G>A) c.*15G>A (n.*15G>A) c.*562G>A (n.*562G>A) c.*62G>A (n.*62G>A) c.*944G>A (n.*944G>A) c.1240G>A (p.Glu414Lys) c.1192G>A (p.Glu398Lys) n.323G>A c.1195G>A (p.Glu399Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.154532753G>A | CA519714532 | G6PD | c.1101C>T (p.Ala367=) c.1104C>T (p.Ala368=) c.964C>T c.967C>T c.953C>T (n.953C>T) c.*14C>T (n.*14C>T) c.*561C>T (n.*561C>T) c.*61C>T (n.*61C>T) c.*943C>T (n.*943C>T) c.1239C>T (p.Ala413=) c.1191C>T (p.Ala397=) n.322C>T c.1194C>T (p.Ala398=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154532753G>C | CA519714533 | G6PD | c.1101C>G (p.Ala367=) c.1104C>G (p.Ala368=) c.964C>G c.967C>G c.953C>G (n.953C>G) c.*14C>G (n.*14C>G) c.*561C>G (n.*561C>G) c.*61C>G (n.*61C>G) c.*943C>G (n.*943C>G) c.1239C>G (p.Ala413=) c.1191C>G (p.Ala397=) n.322C>G c.1194C>G (p.Ala398=) | |
| X | g.154532753G= | CA2466723469 | G6PD | c.1101C= (p.Ala367=) c.1104C= (p.Ala368=) c.964C= c.967C= c.953C= (n.953C=) c.*14C= (n.*14C=) c.*561C= (n.*561C=) c.*61C= (n.*61C=) c.*943C= (n.*943C=) c.1239C= (p.Ala413=) c.1191C= (p.Ala397=) n.322C= c.1194C= (p.Ala398=) | |
| X | g.154532753G>T | CA519714534 | G6PD | c.1101C>A (p.Ala367=) c.1104C>A (p.Ala368=) c.964C>A c.967C>A c.953C>A (n.953C>A) c.*14C>A (n.*14C>A) c.*561C>A (n.*561C>A) c.*61C>A (n.*61C>A) c.*943C>A (n.*943C>A) c.1239C>A (p.Ala413=) c.1191C>A (p.Ala397=) n.322C>A c.1194C>A (p.Ala398=) | |
| X | g.154532761_154532778del | CA2580101791 | G6PD | c.1084_1101del (p.Leu362_Ala367del) c.1087_1104del (p.Leu363_Ala368del) c.947_964del c.950_967del c.936_953del (n.936_953del) c.897_*14del (n.[c.897_*14del;Ter300ArgextTer2]) c.*544_*561del (n.*544_*561del) c.*44_*61del (n.*44_*61del) c.*926_*943del (n.*926_*943del) c.1222_1239del (p.Leu408_Ala413del) c.1174_1191del (p.Leu392_Ala397del) n.305_322del c.1177_1194del (p.Leu393_Ala398del) c.990_*14del (n.[c.990_*14del;Ter331ArgextTer2]) | ClinVar |
| X | g.154532754G>A | CA415234226 | G6PD | c.1100C>T (p.Ala367Val) c.1103C>T (p.Ala368Val) c.963C>T c.966C>T c.952C>T (n.952C>T) c.*13C>T (n.*13C>T) c.*560C>T (n.*560C>T) c.*60C>T (n.*60C>T) c.*942C>T (n.*942C>T) c.1238C>T (p.Ala413Val) c.1190C>T (p.Ala397Val) n.321C>T c.1193C>T (p.Ala398Val) | |
| X | g.154532754G>C | CA415234227 | G6PD | c.1100C>G (p.Ala367Gly) c.1103C>G (p.Ala368Gly) c.963C>G c.966C>G c.952C>G (n.952C>G) c.*13C>G (n.*13C>G) c.*560C>G (n.*560C>G) c.*60C>G (n.*60C>G) c.*942C>G (n.*942C>G) c.1238C>G (p.Ala413Gly) c.1190C>G (p.Ala397Gly) n.321C>G c.1193C>G (p.Ala398Gly) | |
| X | g.154532754G>T | CA415234228 | G6PD | c.1100C>A (p.Ala367Asp) c.1103C>A (p.Ala368Asp) c.963C>A c.966C>A c.952C>A (n.952C>A) c.*13C>A (n.*13C>A) c.*560C>A (n.*560C>A) c.*60C>A (n.*60C>A) c.*942C>A (n.*942C>A) c.1238C>A (p.Ala413Asp) c.1190C>A (p.Ala397Asp) n.321C>A c.1193C>A (p.Ala398Asp) | |
| X | g.154532755C>A | CA415234229 | G6PD | c.1099G>T (p.Ala367Ser) c.1102G>T (p.Ala368Ser) c.962G>T c.965G>T c.951G>T (n.951G>T) c.*12G>T (n.*12G>T) c.*559G>T (n.*559G>T) c.*59G>T (n.*59G>T) c.*941G>T (n.*941G>T) c.1237G>T (p.Ala413Ser) c.1189G>T (p.Ala397Ser) n.320G>T c.1192G>T (p.Ala398Ser) | |
| X | g.154532755C>G | CA415234231 | G6PD | c.1099G>C (p.Ala367Pro) c.1102G>C (p.Ala368Pro) c.962G>C c.965G>C c.951G>C (n.951G>C) c.*12G>C (n.*12G>C) c.*559G>C (n.*559G>C) c.*59G>C (n.*59G>C) c.*941G>C (n.*941G>C) c.1237G>C (p.Ala413Pro) c.1189G>C (p.Ala397Pro) n.320G>C c.1192G>C (p.Ala398Pro) | |
| X | g.154532755C>T | CA415234230 | G6PD | c.1099G>A (p.Ala367Thr) c.1102G>A (p.Ala368Thr) c.962G>A c.965G>A c.951G>A (n.951G>A) c.*12G>A (n.*12G>A) c.*559G>A (n.*559G>A) c.*59G>A (n.*59G>A) c.*941G>A (n.*941G>A) c.1237G>A (p.Ala413Thr) c.1189G>A (p.Ala397Thr) n.320G>A c.1192G>A (p.Ala398Thr) | |
| X | g.154532756C>A | CA415234232 | G6PD | c.1098G>T (p.Lys366Asn) c.1101G>T (p.Lys367Asn) c.961G>T c.964G>T c.950G>T (n.950G>T) c.*11G>T (n.*11G>T) c.*558G>T (n.*558G>T) c.*58G>T (n.*58G>T) c.*940G>T (n.*940G>T) c.1236G>T (p.Lys412Asn) c.1188G>T (p.Lys396Asn) n.319G>T c.1191G>T (p.Lys397Asn) | |
| X | g.154532756C= | CA2466723470 | G6PD | c.1098G= (p.Lys366=) c.1101G= (p.Lys367=) c.961G= c.964G= c.950G= (n.950G=) c.*11G= (n.*11G=) c.*558G= (n.*558G=) c.*58G= (n.*58G=) c.*940G= (n.*940G=) c.1236G= (p.Lys412=) c.1188G= (p.Lys396=) n.319G= c.1191G= (p.Lys397=) | |
| X | g.154532756C>G | CA415234233 | G6PD | c.1098G>C (p.Lys366Asn) c.1101G>C (p.Lys367Asn) c.961G>C c.964G>C c.950G>C (n.950G>C) c.*11G>C (n.*11G>C) c.*558G>C (n.*558G>C) c.*58G>C (n.*58G>C) c.*940G>C (n.*940G>C) c.1236G>C (p.Lys412Asn) c.1188G>C (p.Lys396Asn) n.319G>C c.1191G>C (p.Lys397Asn) | |
| X | g.154532756C>T | CA519714541 | G6PD | c.1098G>A (p.Lys366=) c.1101G>A (p.Lys367=) c.961G>A c.964G>A c.950G>A (n.950G>A) c.*11G>A (n.*11G>A) c.*558G>A (n.*558G>A) c.*58G>A (n.*58G>A) c.*940G>A (n.*940G>A) c.1236G>A (p.Lys412=) c.1188G>A (p.Lys396=) n.319G>A c.1191G>A (p.Lys397=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154532757T>A | CA415234234 | G6PD | c.1097A>T (p.Lys366Met) c.1100A>T (p.Lys367Met) c.960A>T c.963A>T c.949A>T (n.949A>T) c.*10A>T (n.*10A>T) c.*557A>T (n.*557A>T) c.*57A>T (n.*57A>T) c.*939A>T (n.*939A>T) c.1235A>T (p.Lys412Met) c.1187A>T (p.Lys396Met) n.318A>T c.1190A>T (p.Lys397Met) | |
| X | g.154532757T>C | CA415234235 | G6PD | c.1097A>G (p.Lys366Arg) c.1100A>G (p.Lys367Arg) c.960A>G c.963A>G c.949A>G (n.949A>G) c.*10A>G (n.*10A>G) c.*557A>G (n.*557A>G) c.*57A>G (n.*57A>G) c.*939A>G (n.*939A>G) c.1235A>G (p.Lys412Arg) c.1187A>G (p.Lys396Arg) n.318A>G c.1190A>G (p.Lys397Arg) | |
| X | g.154532757T>G | CA415234236 | G6PD | c.1097A>C (p.Lys366Thr) c.1100A>C (p.Lys367Thr) c.960A>C c.963A>C c.949A>C (n.949A>C) c.*10A>C (n.*10A>C) c.*557A>C (n.*557A>C) c.*57A>C (n.*57A>C) c.*939A>C (n.*939A>C) c.1235A>C (p.Lys412Thr) c.1187A>C (p.Lys396Thr) n.318A>C c.1190A>C (p.Lys397Thr) | |
| X | g.154532758T>A | CA415234237 | G6PD | c.1096A>T (p.Lys366Ter) c.1099A>T (p.Lys367Ter) c.959A>T c.962A>T c.948A>T (n.948A>T) c.*9A>T (n.*9A>T) c.*556A>T (n.*556A>T) c.*56A>T (n.*56A>T) c.*938A>T (n.*938A>T) c.1234A>T (p.Lys412Ter) c.1186A>T (p.Lys396Ter) n.317A>T c.1189A>T (p.Lys397Ter) | |
| X | g.154532758T>C | CA16043581 | G6PD | c.1096A>G (p.Lys366Glu) c.1099A>G (p.Lys367Glu) c.959A>G c.962A>G c.948A>G (n.948A>G) c.*9A>G (n.*9A>G) c.*556A>G (n.*556A>G) c.*56A>G (n.*56A>G) c.*938A>G (n.*938A>G) c.1234A>G (p.Lys412Glu) c.1186A>G (p.Lys396Glu) n.317A>G c.1189A>G (p.Lys397Glu) | ClinVar dbSNP |
| X | g.154532758T>G | CA415234238 | G6PD | c.1096A>C (p.Lys366Gln) c.1099A>C (p.Lys367Gln) c.959A>C c.962A>C c.948A>C (n.948A>C) c.*9A>C (n.*9A>C) c.*556A>C (n.*556A>C) c.*56A>C (n.*56A>C) c.*938A>C (n.*938A>C) c.1234A>C (p.Lys412Gln) c.1186A>C (p.Lys396Gln) n.317A>C c.1189A>C (p.Lys397Gln) | |
| X | g.154532758T= | CA2466723471 | G6PD | c.1096A= (p.Lys366=) c.1099A= (p.Lys367=) c.959A= c.962A= c.948A= (n.948A=) c.*9A= (n.*9A=) c.*556A= (n.*556A=) c.*56A= (n.*56A=) c.*938A= (n.*938A=) c.1234A= (p.Lys412=) c.1186A= (p.Lys396=) n.317A= c.1189A= (p.Lys397=) | |
| X | g.154532759G>A | CA519714545 | G6PD | c.1095C>T (p.Arg365=) c.1098C>T (p.Arg366=) c.958C>T c.961C>T c.947C>T (n.947C>T) c.*8C>T (n.*8C>T) c.*555C>T (n.*555C>T) c.*55C>T (n.*55C>T) c.*937C>T (n.*937C>T) c.1233C>T (p.Arg411=) c.1185C>T (p.Arg395=) n.316C>T c.1188C>T (p.Arg396=) | |
| X | g.154532759G>C | CA519714546 | G6PD | c.1095C>G (p.Arg365=) c.1098C>G (p.Arg366=) c.958C>G c.961C>G c.947C>G (n.947C>G) c.*8C>G (n.*8C>G) c.*555C>G (n.*555C>G) c.*55C>G (n.*55C>G) c.*937C>G (n.*937C>G) c.1233C>G (p.Arg411=) c.1185C>G (p.Arg395=) n.316C>G c.1188C>G (p.Arg396=) | |
| X | g.154532759G>T | CA519714547 | G6PD | c.1095C>A (p.Arg365=) c.1098C>A (p.Arg366=) c.958C>A c.961C>A c.947C>A (n.947C>A) c.*8C>A (n.*8C>A) c.*555C>A (n.*555C>A) c.*55C>A (n.*55C>A) c.*937C>A (n.*937C>A) c.1233C>A (p.Arg411=) c.1185C>A (p.Arg395=) n.316C>A c.1188C>A (p.Arg396=) | |
| X | g.154532760C>A | CA415234239 | G6PD | c.1094G>T (p.Arg365Leu) c.1097G>T (p.Arg366Leu) c.957G>T c.960G>T c.946G>T (n.946G>T) c.*7G>T (n.*7G>T) c.*554G>T (n.*554G>T) c.*54G>T (n.*54G>T) c.*936G>T (n.*936G>T) c.1232G>T (p.Arg411Leu) c.1184G>T (p.Arg395Leu) n.315G>T c.1187G>T (p.Arg396Leu) | |
| X | g.154532760C= | CA2466723472 | G6PD | c.1094G= (p.Arg365=) c.1097G= (p.Arg366=) c.957G= c.960G= c.946G= (n.946G=) c.*7G= (n.*7G=) c.*554G= (n.*554G=) c.*54G= (n.*54G=) c.*936G= (n.*936G=) c.1232G= (p.Arg411=) c.1184G= (p.Arg395=) n.315G= c.1187G= (p.Arg396=) | |
| X | g.154532760C>G | CA415234240 | G6PD | c.1094G>C (p.Arg365Pro) c.1097G>C (p.Arg366Pro) c.957G>C c.960G>C c.946G>C (n.946G>C) c.*7G>C (n.*7G>C) c.*554G>C (n.*554G>C) c.*54G>C (n.*54G>C) c.*936G>C (n.*936G>C) c.1232G>C (p.Arg411Pro) c.1184G>C (p.Arg395Pro) n.315G>C c.1187G>C (p.Arg396Pro) | |
| X | g.154532760C>T | CA10566079 | G6PD | c.1094G>A (p.Arg365His) c.1097G>A (p.Arg366His) c.957G>A c.960G>A c.946G>A (n.946G>A) c.*7G>A (n.*7G>A) c.*554G>A (n.*554G>A) c.*54G>A (n.*54G>A) c.*936G>A (n.*936G>A) c.1232G>A (p.Arg411His) c.1184G>A (p.Arg395His) n.315G>A c.1187G>A (p.Arg396His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154532761G>A | CA415234241 | G6PD | c.1093C>T (p.Arg365Cys) c.1096C>T (p.Arg366Cys) c.956C>T c.959C>T c.945C>T (n.945C>T) c.*6C>T (n.*6C>T) c.*553C>T (n.*553C>T) c.*53C>T (n.*53C>T) c.*935C>T (n.*935C>T) c.1231C>T (p.Arg411Cys) c.1183C>T (p.Arg395Cys) n.314C>T c.1186C>T (p.Arg396Cys) | dbSNP gnomAD v2 COSMIC COSMIC COSMIC |
| X | g.154532761G>C | CA415234242 | G6PD | c.1093C>G (p.Arg365Gly) c.1096C>G (p.Arg366Gly) c.956C>G c.959C>G c.945C>G (n.945C>G) c.*6C>G (n.*6C>G) c.*553C>G (n.*553C>G) c.*53C>G (n.*53C>G) c.*935C>G (n.*935C>G) c.1231C>G (p.Arg411Gly) c.1183C>G (p.Arg395Gly) n.314C>G c.1186C>G (p.Arg396Gly) | |
| X | g.154532761G= | CA2466723473 | G6PD | c.1093C= (p.Arg365=) c.1096C= (p.Arg366=) c.956C= c.959C= c.945C= (n.945C=) c.*6C= (n.*6C=) c.*553C= (n.*553C=) c.*53C= (n.*53C=) c.*935C= (n.*935C=) c.1231C= (p.Arg411=) c.1183C= (p.Arg395=) n.314C= c.1186C= (p.Arg396=) | |
| X | g.154532761G>T | CA415234243 | G6PD | c.1093C>A (p.Arg365Ser) c.1096C>A (p.Arg366Ser) c.956C>A c.959C>A c.945C>A (n.945C>A) c.*6C>A (n.*6C>A) c.*553C>A (n.*553C>A) c.*53C>A (n.*53C>A) c.*935C>A (n.*935C>A) c.1231C>A (p.Arg411Ser) c.1183C>A (p.Arg395Ser) n.314C>A c.1186C>A (p.Arg396Ser) | |
| X | g.154532762C>A | CA415234245 | G6PD | c.1092G>T (p.Glu364Asp) c.1095G>T (p.Glu365Asp) c.955G>T c.958G>T c.944G>T (n.944G>T) c.*5G>T (n.*5G>T) c.*552G>T (n.*552G>T) c.*52G>T (n.*52G>T) c.*934G>T (n.*934G>T) c.1230G>T (p.Glu410Asp) c.1182G>T (p.Glu394Asp) n.313G>T c.1185G>T (p.Glu395Asp) | |
| X | g.154532762C>G | CA415234244 | G6PD | c.1092G>C (p.Glu364Asp) c.1095G>C (p.Glu365Asp) c.955G>C c.958G>C c.944G>C (n.944G>C) c.*5G>C (n.*5G>C) c.*552G>C (n.*552G>C) c.*52G>C (n.*52G>C) c.*934G>C (n.*934G>C) c.1230G>C (p.Glu410Asp) c.1182G>C (p.Glu394Asp) n.313G>C c.1185G>C (p.Glu395Asp) | |
| X | g.154532762C>T | CA519714552 | G6PD | c.1092G>A (p.Glu364=) c.1095G>A (p.Glu365=) c.955G>A c.958G>A c.944G>A (n.944G>A) c.*5G>A (n.*5G>A) c.*552G>A (n.*552G>A) c.*52G>A (n.*52G>A) c.*934G>A (n.*934G>A) c.1230G>A (p.Glu410=) c.1182G>A (p.Glu394=) n.313G>A c.1185G>A (p.Glu395=) | |
| X | g.154532763T>A | CA415234246 | G6PD | c.1091A>T (p.Glu364Val) c.1094A>T (p.Glu365Val) c.954A>T c.957A>T c.943A>T (n.943A>T) c.*4A>T (n.*4A>T) c.*551A>T (n.*551A>T) c.*51A>T (n.*51A>T) c.*933A>T (n.*933A>T) c.1229A>T (p.Glu410Val) c.1181A>T (p.Glu394Val) n.312A>T c.1184A>T (p.Glu395Val) | |
| X | g.154532763T>C | CA415234247 | G6PD | c.1091A>G (p.Glu364Gly) c.1094A>G (p.Glu365Gly) c.954A>G c.957A>G c.943A>G (n.943A>G) c.*4A>G (n.*4A>G) c.*551A>G (n.*551A>G) c.*51A>G (n.*51A>G) c.*933A>G (n.*933A>G) c.1229A>G (p.Glu410Gly) c.1181A>G (p.Glu394Gly) n.312A>G c.1184A>G (p.Glu395Gly) | |
| X | g.154532763T>G | CA415234248 | G6PD | c.1091A>C (p.Glu364Ala) c.1094A>C (p.Glu365Ala) c.954A>C c.957A>C c.943A>C (n.943A>C) c.*4A>C (n.*4A>C) c.*551A>C (n.*551A>C) c.*51A>C (n.*51A>C) c.*933A>C (n.*933A>C) c.1229A>C (p.Glu410Ala) c.1181A>C (p.Glu394Ala) n.312A>C c.1184A>C (p.Glu395Ala) | |
| X | g.154532764C>A | CA415234249 | G6PD | c.1090G>T (p.Glu364Ter) c.1093G>T (p.Glu365Ter) c.953G>T c.956G>T c.942G>T (n.942G>T) c.*3G>T (n.*3G>T) c.*550G>T (n.*550G>T) c.*50G>T (n.*50G>T) c.*932G>T (n.*932G>T) c.1228G>T (p.Glu410Ter) c.1180G>T (p.Glu394Ter) n.311G>T c.1183G>T (p.Glu395Ter) | |
| X | g.154532764C>G | CA415234250 | G6PD | c.1090G>C (p.Glu364Gln) c.1093G>C (p.Glu365Gln) c.953G>C c.956G>C c.942G>C (n.942G>C) c.*3G>C (n.*3G>C) c.*550G>C (n.*550G>C) c.*50G>C (n.*50G>C) c.*932G>C (n.*932G>C) c.1228G>C (p.Glu410Gln) c.1180G>C (p.Glu394Gln) n.311G>C c.1183G>C (p.Glu395Gln) | |
| X | g.154532764C>T | CA415234251 | G6PD | c.1090G>A (p.Glu364Lys) c.1093G>A (p.Glu365Lys) c.953G>A c.956G>A c.942G>A (n.942G>A) c.*3G>A (n.*3G>A) c.*550G>A (n.*550G>A) c.*50G>A (n.*50G>A) c.*932G>A (n.*932G>A) c.1228G>A (p.Glu410Lys) c.1180G>A (p.Glu394Lys) n.311G>A c.1183G>A (p.Glu395Lys) | gnomAD v4 |
| X | g.154532765G>A | CA519714555 | G6PD | c.1089C>T (p.Asn363=) c.1092C>T (p.Asn364=) c.952C>T c.955C>T c.941C>T (n.941C>T) c.*2C>T (n.*2C>T) c.*549C>T (n.*549C>T) c.*49C>T (n.*49C>T) c.*931C>T (n.*931C>T) c.1227C>T (p.Asn409=) c.1179C>T (p.Asn393=) n.310C>T c.1182C>T (p.Asn394=) | gnomAD v4 |
| X | g.154532765G>C | CA415234252 | G6PD | c.1089C>G (p.Asn363Lys) c.1092C>G (p.Asn364Lys) c.952C>G c.955C>G c.941C>G (n.941C>G) c.*2C>G (n.*2C>G) c.*549C>G (n.*549C>G) c.*49C>G (n.*49C>G) c.*931C>G (n.*931C>G) c.1227C>G (p.Asn409Lys) c.1179C>G (p.Asn393Lys) n.310C>G c.1182C>G (p.Asn394Lys) | ClinVar dbSNP |
| X | g.154532765G= | CA2466723474 | G6PD | c.1089C= (p.Asn363=) c.1092C= (p.Asn364=) c.952C= c.955C= c.941C= (n.941C=) c.*2C= (n.*2C=) c.*549C= (n.*549C=) c.*49C= (n.*49C=) c.*931C= (n.*931C=) c.1227C= (p.Asn409=) c.1179C= (p.Asn393=) n.310C= c.1182C= (p.Asn394=) | |
| X | g.154532765G>T | CA120996 | G6PD | c.1089C>A (p.Asn363Lys) c.1092C>A (p.Asn364Lys) c.952C>A c.955C>A c.941C>A (n.941C>A) c.*2C>A (n.*2C>A) c.*549C>A (n.*549C>A) c.*49C>A (n.*49C>A) c.*931C>A (n.*931C>A) c.1227C>A (p.Asn409Lys) c.1179C>A (p.Asn393Lys) n.310C>A c.1182C>A (p.Asn394Lys) | ClinVar dbSNP |