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.154532712A>C | CA415234132 | G6PD | c.1142T>G (p.Phe381Cys) c.1145T>G (p.Phe382Cys) c.1005T>G c.1008T>G c.994T>G (n.994T>G) c.*55T>G (n.*55T>G) c.*602T>G (n.*602T>G) c.*102T>G (n.*102T>G) c.*984T>G (n.*984T>G) c.1280T>G (p.Phe427Cys) c.1232T>G (p.Phe411Cys) n.363T>G c.1235T>G (p.Phe412Cys) | |
| X | g.154532712A>G | CA415234134 | G6PD | c.1142T>C (p.Phe381Ser) c.1145T>C (p.Phe382Ser) c.1005T>C c.1008T>C c.994T>C (n.994T>C) c.*55T>C (n.*55T>C) c.*602T>C (n.*602T>C) c.*102T>C (n.*102T>C) c.*984T>C (n.*984T>C) c.1280T>C (p.Phe427Ser) c.1232T>C (p.Phe411Ser) n.363T>C c.1235T>C (p.Phe412Ser) | |
| X | g.154532712A>T | CA415234133 | G6PD | c.1142T>A (p.Phe381Tyr) c.1145T>A (p.Phe382Tyr) c.1005T>A c.1008T>A c.994T>A (n.994T>A) c.*55T>A (n.*55T>A) c.*602T>A (n.*602T>A) c.*102T>A (n.*102T>A) c.*984T>A (n.*984T>A) c.1280T>A (p.Phe427Tyr) c.1232T>A (p.Phe411Tyr) n.363T>A c.1235T>A (p.Phe412Tyr) | |
| X | g.154532713A= | CA2740130039 | G6PD | c.1141T= (p.Phe381=) c.1144T= (p.Phe382=) c.1004T= c.1007T= c.993T= (n.993T=) c.*54T= (n.*54T=) c.*601T= (n.*601T=) c.*101T= (n.*101T=) c.*983T= (n.*983T=) c.1279T= (p.Phe427=) c.1231T= (p.Phe411=) n.362T= c.1234T= (p.Phe412=) | |
| X | g.154532713A>C | CA415234135 | G6PD | c.1141T>G (p.Phe381Val) c.1144T>G (p.Phe382Val) c.1004T>G c.1007T>G c.993T>G (n.993T>G) c.*54T>G (n.*54T>G) c.*601T>G (n.*601T>G) c.*101T>G (n.*101T>G) c.*983T>G (n.*983T>G) c.1279T>G (p.Phe427Val) c.1231T>G (p.Phe411Val) n.362T>G c.1234T>G (p.Phe412Val) | |
| X | g.154532713A>G | CA415234136 | G6PD | c.1141T>C (p.Phe381Leu) c.1144T>C (p.Phe382Leu) c.1004T>C c.1007T>C c.993T>C (n.993T>C) c.*54T>C (n.*54T>C) c.*601T>C (n.*601T>C) c.*101T>C (n.*101T>C) c.*983T>C (n.*983T>C) c.1279T>C (p.Phe427Leu) c.1231T>C (p.Phe411Leu) n.362T>C c.1234T>C (p.Phe412Leu) | ClinVar |
| X | g.154532713A>T | CA415234137 | G6PD | c.1141T>A (p.Phe381Ile) c.1144T>A (p.Phe382Ile) c.1004T>A c.1007T>A c.993T>A (n.993T>A) c.*54T>A (n.*54T>A) c.*601T>A (n.*601T>A) c.*101T>A (n.*101T>A) c.*983T>A (n.*983T>A) c.1279T>A (p.Phe427Ile) c.1231T>A (p.Phe411Ile) n.362T>A c.1234T>A (p.Phe412Ile) | |
| X | g.154532714G>A | CA519714498 | G6PD | c.1140C>T (p.Ile380=) c.1143C>T (p.Ile381=) c.1003C>T c.1006C>T c.992C>T (n.992C>T) c.*53C>T (n.*53C>T) c.*600C>T (n.*600C>T) c.*100C>T (n.*100C>T) c.*982C>T (n.*982C>T) c.1278C>T (p.Ile426=) c.1230C>T (p.Ile410=) n.361C>T c.1233C>T (p.Ile411=) | gnomAD v4 |
| X | g.154532714G>C | CA415234138 | G6PD | c.1140C>G (p.Ile380Met) c.1143C>G (p.Ile381Met) c.1003C>G c.1006C>G c.992C>G (n.992C>G) c.*53C>G (n.*53C>G) c.*600C>G (n.*600C>G) c.*100C>G (n.*100C>G) c.*982C>G (n.*982C>G) c.1278C>G (p.Ile426Met) c.1230C>G (p.Ile410Met) n.361C>G c.1233C>G (p.Ile411Met) | |
| X | g.154532714G>T | CA519714499 | G6PD | c.1140C>A (p.Ile380=) c.1143C>A (p.Ile381=) c.1003C>A c.1006C>A c.992C>A (n.992C>A) c.*53C>A (n.*53C>A) c.*600C>A (n.*600C>A) c.*100C>A (n.*100C>A) c.*982C>A (n.*982C>A) c.1278C>A (p.Ile426=) c.1230C>A (p.Ile410=) n.361C>A c.1233C>A (p.Ile411=) | |
| X | g.154532715A= | CA2740130040 | G6PD | c.1139T= (p.Ile380=) c.1142T= (p.Ile381=) c.1002T= c.1005T= c.991T= (n.991T=) c.*52T= (n.*52T=) c.*599T= (n.*599T=) c.*99T= (n.*99T=) c.*981T= (n.*981T=) c.1277T= (p.Ile426=) c.1229T= (p.Ile410=) n.360T= c.1232T= (p.Ile411=) | |
| X | g.154532715A>C | CA415234139 | G6PD | c.1139T>G (p.Ile380Ser) c.1142T>G (p.Ile381Ser) c.1002T>G c.1005T>G c.991T>G (n.991T>G) c.*52T>G (n.*52T>G) c.*599T>G (n.*599T>G) c.*99T>G (n.*99T>G) c.*981T>G (n.*981T>G) c.1277T>G (p.Ile426Ser) c.1229T>G (p.Ile410Ser) n.360T>G c.1232T>G (p.Ile411Ser) | |
| X | g.154532715A>G | CA415234140 | G6PD | c.1139T>C (p.Ile380Thr) c.1142T>C (p.Ile381Thr) c.1002T>C c.1005T>C c.991T>C (n.991T>C) c.*52T>C (n.*52T>C) c.*599T>C (n.*599T>C) c.*99T>C (n.*99T>C) c.*981T>C (n.*981T>C) c.1277T>C (p.Ile426Thr) c.1229T>C (p.Ile410Thr) n.360T>C c.1232T>C (p.Ile411Thr) | ClinVar |
| X | g.154532715A>T | CA415234141 | G6PD | c.1139T>A (p.Ile380Asn) c.1142T>A (p.Ile381Asn) c.1002T>A c.1005T>A c.991T>A (n.991T>A) c.*52T>A (n.*52T>A) c.*599T>A (n.*599T>A) c.*99T>A (n.*99T>A) c.*981T>A (n.*981T>A) c.1277T>A (p.Ile426Asn) c.1229T>A (p.Ile410Asn) n.360T>A c.1232T>A (p.Ile411Asn) | |
| X | g.154532716T>A | CA415234142 | G6PD | c.1138A>T (p.Ile380Phe) c.1141A>T (p.Ile381Phe) c.1001A>T c.1004A>T c.990A>T (n.990A>T) c.*51A>T (n.*51A>T) c.*598A>T (n.*598A>T) c.*98A>T (n.*98A>T) c.*980A>T (n.*980A>T) c.1276A>T (p.Ile426Phe) c.1228A>T (p.Ile410Phe) n.359A>T c.1231A>T (p.Ile411Phe) | |
| X | g.154532716T>C | CA415234143 | G6PD | c.1138A>G (p.Ile380Val) c.1141A>G (p.Ile381Val) c.1001A>G c.1004A>G c.990A>G (n.990A>G) c.*51A>G (n.*51A>G) c.*598A>G (n.*598A>G) c.*98A>G (n.*98A>G) c.*980A>G (n.*980A>G) c.1276A>G (p.Ile426Val) c.1228A>G (p.Ile410Val) n.359A>G c.1231A>G (p.Ile411Val) | ClinVar |
| X | g.154532716T>G | CA415234144 | G6PD | c.1138A>C (p.Ile380Leu) c.1141A>C (p.Ile381Leu) c.1001A>C c.1004A>C c.990A>C (n.990A>C) c.*51A>C (n.*51A>C) c.*598A>C (n.*598A>C) c.*98A>C (n.*98A>C) c.*980A>C (n.*980A>C) c.1276A>C (p.Ile426Leu) c.1228A>C (p.Ile410Leu) n.359A>C c.1231A>C (p.Ile411Leu) | |
| X | g.154532716T= | CA2740130041 | G6PD | c.1138A= (p.Ile380=) c.1141A= (p.Ile381=) c.1001A= c.1004A= c.990A= (n.990A=) c.*51A= (n.*51A=) c.*598A= (n.*598A=) c.*98A= (n.*98A=) c.*980A= (n.*980A=) c.1276A= (p.Ile426=) c.1228A= (p.Ile410=) n.359A= c.1231A= (p.Ile411=) | |
| X | g.154532717G>A | CA519714500 | G6PD | c.1137C>T (p.Asp379=) c.1140C>T (p.Asp380=) c.1000C>T c.1003C>T c.989C>T (n.989C>T) c.*50C>T (n.*50C>T) c.*597C>T (n.*597C>T) c.*97C>T (n.*97C>T) c.*979C>T (n.*979C>T) c.1275C>T (p.Asp425=) c.1227C>T (p.Asp409=) n.358C>T c.1230C>T (p.Asp410=) | |
| X | g.154532717G>C | CA415234146 | G6PD | c.1137C>G (p.Asp379Glu) c.1140C>G (p.Asp380Glu) c.1000C>G c.1003C>G c.989C>G (n.989C>G) c.*50C>G (n.*50C>G) c.*597C>G (n.*597C>G) c.*97C>G (n.*97C>G) c.*979C>G (n.*979C>G) c.1275C>G (p.Asp425Glu) c.1227C>G (p.Asp409Glu) n.358C>G c.1230C>G (p.Asp410Glu) | |
| X | g.154532717G>T | CA415234145 | G6PD | c.1137C>A (p.Asp379Glu) c.1140C>A (p.Asp380Glu) c.1000C>A c.1003C>A c.989C>A (n.989C>A) c.*50C>A (n.*50C>A) c.*597C>A (n.*597C>A) c.*97C>A (n.*97C>A) c.*979C>A (n.*979C>A) c.1275C>A (p.Asp425Glu) c.1227C>A (p.Asp409Glu) n.358C>A c.1230C>A (p.Asp410Glu) | |
| X | g.154532718T>A | CA415234147 | G6PD | c.1136A>T (p.Asp379Val) c.1139A>T (p.Asp380Val) c.999A>T c.1002A>T c.988A>T (n.988A>T) c.*49A>T (n.*49A>T) c.*596A>T (n.*596A>T) c.*96A>T (n.*96A>T) c.*978A>T (n.*978A>T) c.1274A>T (p.Asp425Val) c.1226A>T (p.Asp409Val) n.357A>T c.1229A>T (p.Asp410Val) | |
| X | g.154532718T>C | CA415234148 | G6PD | c.1136A>G (p.Asp379Gly) c.1139A>G (p.Asp380Gly) c.999A>G c.1002A>G c.988A>G (n.988A>G) c.*49A>G (n.*49A>G) c.*596A>G (n.*596A>G) c.*96A>G (n.*96A>G) c.*978A>G (n.*978A>G) c.1274A>G (p.Asp425Gly) c.1226A>G (p.Asp409Gly) n.357A>G c.1229A>G (p.Asp410Gly) | |
| X | g.154532718T>G | CA415234149 | G6PD | c.1136A>C (p.Asp379Ala) c.1139A>C (p.Asp380Ala) c.999A>C c.1002A>C c.988A>C (n.988A>C) c.*49A>C (n.*49A>C) c.*596A>C (n.*596A>C) c.*96A>C (n.*96A>C) c.*978A>C (n.*978A>C) c.1274A>C (p.Asp425Ala) c.1226A>C (p.Asp409Ala) n.357A>C c.1229A>C (p.Asp410Ala) | |
| X | g.154532719C>A | CA415234150 | G6PD | c.1135G>T (p.Asp379Tyr) c.1138G>T (p.Asp380Tyr) c.998G>T c.1001G>T c.987G>T (n.987G>T) c.*48G>T (n.*48G>T) c.*595G>T (n.*595G>T) c.*95G>T (n.*95G>T) c.*977G>T (n.*977G>T) c.1273G>T (p.Asp425Tyr) c.1225G>T (p.Asp409Tyr) n.356G>T c.1228G>T (p.Asp410Tyr) | |
| X | g.154532719C>G | CA415234151 | G6PD | c.1135G>C (p.Asp379His) c.1138G>C (p.Asp380His) c.998G>C c.1001G>C c.987G>C (n.987G>C) c.*48G>C (n.*48G>C) c.*595G>C (n.*595G>C) c.*95G>C (n.*95G>C) c.*977G>C (n.*977G>C) c.1273G>C (p.Asp425His) c.1225G>C (p.Asp409His) n.356G>C c.1228G>C (p.Asp410His) | |
| X | g.154532719C>T | CA415234152 | G6PD | c.1135G>A (p.Asp379Asn) c.1138G>A (p.Asp380Asn) c.998G>A c.1001G>A c.987G>A (n.987G>A) c.*48G>A (n.*48G>A) c.*595G>A (n.*595G>A) c.*95G>A (n.*95G>A) c.*977G>A (n.*977G>A) c.1273G>A (p.Asp425Asn) c.1225G>A (p.Asp409Asn) n.356G>A c.1228G>A (p.Asp410Asn) | gnomAD v4 |
| X | g.154532720G>A | CA10566074 | G6PD | c.1134C>T (p.Gly378=) c.1137C>T (p.Gly379=) c.997C>T c.1000C>T c.986C>T (n.986C>T) c.*47C>T (n.*47C>T) c.*594C>T (n.*594C>T) c.*94C>T (n.*94C>T) c.*976C>T (n.*976C>T) c.1272C>T (p.Gly424=) c.1224C>T (p.Gly408=) n.355C>T c.1227C>T (p.Gly409=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154532720G>C | CA519714502 | G6PD | c.1134C>G (p.Gly378=) c.1137C>G (p.Gly379=) c.997C>G c.1000C>G c.986C>G (n.986C>G) c.*47C>G (n.*47C>G) c.*594C>G (n.*594C>G) c.*94C>G (n.*94C>G) c.*976C>G (n.*976C>G) c.1272C>G (p.Gly424=) c.1224C>G (p.Gly408=) n.355C>G c.1227C>G (p.Gly409=) | |
| X | g.154532720G= | CA2466723455 | G6PD | c.1134C= (p.Gly378=) c.1137C= (p.Gly379=) c.997C= c.1000C= c.986C= (n.986C=) c.*47C= (n.*47C=) c.*594C= (n.*594C=) c.*94C= (n.*94C=) c.*976C= (n.*976C=) c.1272C= (p.Gly424=) c.1224C= (p.Gly408=) n.355C= c.1227C= (p.Gly409=) | |
| X | g.154532720G>T | CA519714501 | G6PD | c.1134C>A (p.Gly378=) c.1137C>A (p.Gly379=) c.997C>A c.1000C>A c.986C>A (n.986C>A) c.*47C>A (n.*47C>A) c.*594C>A (n.*594C>A) c.*94C>A (n.*94C>A) c.*976C>A (n.*976C>A) c.1272C>A (p.Gly424=) c.1224C>A (p.Gly408=) n.355C>A c.1227C>A (p.Gly409=) | |
| X | g.154532721C>A | CA415234153 | G6PD | c.1133G>T (p.Gly378Val) c.1136G>T (p.Gly379Val) c.996G>T c.999G>T c.985G>T (n.985G>T) c.*46G>T (n.*46G>T) c.*593G>T (n.*593G>T) c.*93G>T (n.*93G>T) c.*975G>T (n.*975G>T) c.1271G>T (p.Gly424Val) c.1223G>T (p.Gly408Val) n.354G>T c.1226G>T (p.Gly409Val) | |
| X | g.154532721C>G | CA415234155 | G6PD | c.1133G>C (p.Gly378Ala) c.1136G>C (p.Gly379Ala) c.996G>C c.999G>C c.985G>C (n.985G>C) c.*46G>C (n.*46G>C) c.*593G>C (n.*593G>C) c.*93G>C (n.*93G>C) c.*975G>C (n.*975G>C) c.1271G>C (p.Gly424Ala) c.1223G>C (p.Gly408Ala) n.354G>C c.1226G>C (p.Gly409Ala) | |
| X | g.154532721C>T | CA415234154 | G6PD | c.1133G>A (p.Gly378Asp) c.1136G>A (p.Gly379Asp) c.996G>A c.999G>A c.985G>A (n.985G>A) c.*46G>A (n.*46G>A) c.*593G>A (n.*593G>A) c.*93G>A (n.*93G>A) c.*975G>A (n.*975G>A) c.1271G>A (p.Gly424Asp) c.1223G>A (p.Gly408Asp) n.354G>A c.1226G>A (p.Gly409Asp) | |
| X | g.154532722C>A | CA415234156 | G6PD | c.1132G>T (p.Gly378Cys) c.1135G>T (p.Gly379Cys) c.995G>T c.998G>T c.984G>T (n.984G>T) c.*45G>T (n.*45G>T) c.*592G>T (n.*592G>T) c.*92G>T (n.*92G>T) c.*974G>T (n.*974G>T) c.1270G>T (p.Gly424Cys) c.1222G>T (p.Gly408Cys) n.353G>T c.1225G>T (p.Gly409Cys) | |
| X | g.154532722C= | CA2466723456 | G6PD | c.1132G= (p.Gly378=) c.1135G= (p.Gly379=) c.995G= c.998G= c.984G= (n.984G=) c.*45G= (n.*45G=) c.*592G= (n.*592G=) c.*92G= (n.*92G=) c.*974G= (n.*974G=) c.1270G= (p.Gly424=) c.1222G= (p.Gly408=) n.353G= c.1225G= (p.Gly409=) | |
| X | g.154532722C>G | CA415234157 | G6PD | c.1132G>C (p.Gly378Arg) c.1135G>C (p.Gly379Arg) c.995G>C c.998G>C c.984G>C (n.984G>C) c.*45G>C (n.*45G>C) c.*592G>C (n.*592G>C) c.*92G>C (n.*92G>C) c.*974G>C (n.*974G>C) c.1270G>C (p.Gly424Arg) c.1222G>C (p.Gly408Arg) n.353G>C c.1225G>C (p.Gly409Arg) | |
| X | g.154532722C>T | CA10566075 | G6PD | c.1132G>A (p.Gly378Ser) c.1135G>A (p.Gly379Ser) c.995G>A c.998G>A c.984G>A (n.984G>A) c.*45G>A (n.*45G>A) c.*592G>A (n.*592G>A) c.*92G>A (n.*92G>A) c.*974G>A (n.*974G>A) c.1270G>A (p.Gly424Ser) c.1222G>A (p.Gly408Ser) n.353G>A c.1225G>A (p.Gly409Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154532723G>A | CA10566076 | G6PD | c.1131C>T (p.Ala377=) c.1134C>T (p.Ala378=) c.994C>T c.997C>T c.983C>T (n.983C>T) c.*44C>T (n.*44C>T) c.*591C>T (n.*591C>T) c.*91C>T (n.*91C>T) c.*973C>T (n.*973C>T) c.1269C>T (p.Ala423=) c.1221C>T (p.Ala407=) n.352C>T c.1224C>T (p.Ala408=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154532723G>C | CA519714503 | G6PD | c.1131C>G (p.Ala377=) c.1134C>G (p.Ala378=) c.994C>G c.997C>G c.983C>G (n.983C>G) c.*44C>G (n.*44C>G) c.*591C>G (n.*591C>G) c.*91C>G (n.*91C>G) c.*973C>G (n.*973C>G) c.1269C>G (p.Ala423=) c.1221C>G (p.Ala407=) n.352C>G c.1224C>G (p.Ala408=) | |
| X | g.154532723G= | CA2466723457 | G6PD | c.1131C= (p.Ala377=) c.1134C= (p.Ala378=) c.994C= c.997C= c.983C= (n.983C=) c.*44C= (n.*44C=) c.*591C= (n.*591C=) c.*91C= (n.*91C=) c.*973C= (n.*973C=) c.1269C= (p.Ala423=) c.1221C= (p.Ala407=) n.352C= c.1224C= (p.Ala408=) | |
| X | g.154532723G>T | CA519714504 | G6PD | c.1131C>A (p.Ala377=) c.1134C>A (p.Ala378=) c.994C>A c.997C>A c.983C>A (n.983C>A) c.*44C>A (n.*44C>A) c.*591C>A (n.*591C>A) c.*91C>A (n.*91C>A) c.*973C>A (n.*973C>A) c.1269C>A (p.Ala423=) c.1221C>A (p.Ala407=) n.352C>A c.1224C>A (p.Ala408=) | |
| X | g.154532724G>A | CA415234158 | G6PD | c.1130C>T (p.Ala377Val) c.1133C>T (p.Ala378Val) c.993C>T c.996C>T c.982C>T (n.982C>T) c.*43C>T (n.*43C>T) c.*590C>T (n.*590C>T) c.*90C>T (n.*90C>T) c.*972C>T (n.*972C>T) c.1268C>T (p.Ala423Val) c.1220C>T (p.Ala407Val) n.351C>T c.1223C>T (p.Ala408Val) | |
| X | g.154532724G>C | CA415234160 | G6PD | c.1130C>G (p.Ala377Gly) c.1133C>G (p.Ala378Gly) c.993C>G c.996C>G c.982C>G (n.982C>G) c.*43C>G (n.*43C>G) c.*590C>G (n.*590C>G) c.*90C>G (n.*90C>G) c.*972C>G (n.*972C>G) c.1268C>G (p.Ala423Gly) c.1220C>G (p.Ala407Gly) n.351C>G c.1223C>G (p.Ala408Gly) | |
| X | g.154532724G>T | CA415234159 | G6PD | c.1130C>A (p.Ala377Asp) c.1133C>A (p.Ala378Asp) c.993C>A c.996C>A c.982C>A (n.982C>A) c.*43C>A (n.*43C>A) c.*590C>A (n.*590C>A) c.*90C>A (n.*90C>A) c.*972C>A (n.*972C>A) c.1268C>A (p.Ala423Asp) c.1220C>A (p.Ala407Asp) n.351C>A c.1223C>A (p.Ala408Asp) | |
| X | g.154532725C>A | CA415234161 | G6PD | c.1129G>T (p.Ala377Ser) c.1132G>T (p.Ala378Ser) c.992G>T c.995G>T c.981G>T (n.981G>T) c.*42G>T (n.*42G>T) c.*589G>T (n.*589G>T) c.*89G>T (n.*89G>T) c.*971G>T (n.*971G>T) c.1267G>T (p.Ala423Ser) c.1219G>T (p.Ala407Ser) n.350G>T c.1222G>T (p.Ala408Ser) | |
| X | g.154532725C= | CA2466723458 | G6PD | c.1129G= (p.Ala377=) c.1132G= (p.Ala378=) c.992G= c.995G= c.981G= (n.981G=) c.*42G= (n.*42G=) c.*589G= (n.*589G=) c.*89G= (n.*89G=) c.*971G= (n.*971G=) c.1267G= (p.Ala423=) c.1219G= (p.Ala407=) n.350G= c.1222G= (p.Ala408=) | |
| X | g.154532725C>G | CA415234162 | G6PD | c.1129G>C (p.Ala377Pro) c.1132G>C (p.Ala378Pro) c.992G>C c.995G>C c.981G>C (n.981G>C) c.*42G>C (n.*42G>C) c.*589G>C (n.*589G>C) c.*89G>C (n.*89G>C) c.*971G>C (n.*971G>C) c.1267G>C (p.Ala423Pro) c.1219G>C (p.Ala407Pro) n.350G>C c.1222G>C (p.Ala408Pro) | |
| X | g.154532725C>T | CA415234163 | G6PD | c.1129G>A (p.Ala377Thr) c.1132G>A (p.Ala378Thr) c.992G>A c.995G>A c.981G>A (n.981G>A) c.*42G>A (n.*42G>A) c.*589G>A (n.*589G>A) c.*89G>A (n.*89G>A) c.*971G>A (n.*971G>A) c.1267G>A (p.Ala423Thr) c.1219G>A (p.Ala407Thr) n.350G>A c.1222G>A (p.Ala408Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154532726C>A | CA519714505 | G6PD | c.1128G>T (p.Val376=) c.1131G>T (p.Val377=) c.991G>T c.994G>T c.980G>T (n.980G>T) c.*41G>T (n.*41G>T) c.*588G>T (n.*588G>T) c.*88G>T (n.*88G>T) c.*970G>T (n.*970G>T) c.1266G>T (p.Val422=) c.1218G>T (p.Val406=) n.349G>T c.1221G>T (p.Val407=) |