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.154533586C>A | CA415235079 | G6PD | c.854G>T (p.Arg285Leu) c.857G>T (p.Arg286Leu) c.717G>T c.720G>T c.706G>T (p.Val236Leu) c.*696G>T (n.*696G>T) c.992G>T (p.Arg331Leu) c.944G>T (p.Arg315Leu) n.243G>T c.947G>T (p.Arg316Leu) | |
| X | g.154533586C= | CA2466723827 | G6PD | c.854G= (p.Arg285=) c.857G= (p.Arg286=) c.717G= c.720G= c.706G= (p.Val236=) c.*696G= (n.*696G=) c.992G= (p.Arg331=) c.944G= (p.Arg315=) n.243G= c.947G= (p.Arg316=) | |
| X | g.154533586C>G | CA415235077 | G6PD | c.854G>C (p.Arg285Pro) c.857G>C (p.Arg286Pro) c.717G>C c.720G>C c.706G>C (p.Val236Leu) c.*696G>C (n.*696G>C) c.992G>C (p.Arg331Pro) c.944G>C (p.Arg315Pro) n.243G>C c.947G>C (p.Arg316Pro) | |
| X | g.154533586C>T | CA120941 | G6PD | c.854G>A (p.Arg285His) c.857G>A (p.Arg286His) c.717G>A c.720G>A c.706G>A (p.Val236Met) c.*696G>A (n.*696G>A) c.992G>A (p.Arg331His) c.944G>A (p.Arg315His) n.243G>A c.947G>A (p.Arg316His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154533587G>A | CA415235082 | G6PD | c.853C>T (p.Arg285Cys) c.856C>T (p.Arg286Cys) c.716C>T c.719C>T c.705C>T (p.Ser235=) c.*695C>T (n.*695C>T) c.991C>T (p.Arg331Cys) c.943C>T (p.Arg315Cys) n.242C>T c.946C>T (p.Arg316Cys) | ClinVar |
| X | g.154533587G>C | CA415235086 | G6PD | c.853C>G (p.Arg285Gly) c.856C>G (p.Arg286Gly) c.716C>G c.719C>G c.705C>G (p.Ser235=) c.*695C>G (n.*695C>G) c.991C>G (p.Arg331Gly) c.943C>G (p.Arg315Gly) n.242C>G c.946C>G (p.Arg316Gly) | |
| X | g.154533587G= | CA2740130048 | G6PD | c.853C= (p.Arg285=) c.856C= (p.Arg286=) c.716C= c.719C= c.705C= (p.Ser235=) c.*695C= (n.*695C=) c.991C= (p.Arg331=) c.943C= (p.Arg315=) n.242C= c.946C= (p.Arg316=) | |
| X | g.154533587G>T | CA415235084 | G6PD | c.853C>A (p.Arg285Ser) c.856C>A (p.Arg286Ser) c.716C>A c.719C>A c.705C>A (p.Ser235=) c.*695C>A (n.*695C>A) c.991C>A (p.Arg331Ser) c.943C>A (p.Arg315Ser) n.242C>A c.946C>A (p.Arg316Ser) | |
| X | g.154533588G>A | CA519304285 | G6PD | c.852C>T (p.Val284=) c.855C>T (p.Val285=) c.715C>T c.718C>T c.704C>T (p.Ser235Phe) c.*694C>T (n.*694C>T) c.990C>T (p.Val330=) c.942C>T (p.Val314=) n.241C>T c.945C>T (p.Val315=) | |
| X | g.154533588G>C | CA519304287 | G6PD | c.852C>G (p.Val284=) c.855C>G (p.Val285=) c.715C>G c.718C>G c.704C>G (p.Ser235Cys) c.*694C>G (n.*694C>G) c.990C>G (p.Val330=) c.942C>G (p.Val314=) n.241C>G c.945C>G (p.Val315=) | |
| X | g.154533588G>T | CA519304289 | G6PD | c.852C>A (p.Val284=) c.855C>A (p.Val285=) c.715C>A c.718C>A c.704C>A (p.Ser235Tyr) c.*694C>A (n.*694C>A) c.990C>A (p.Val330=) c.942C>A (p.Val314=) n.241C>A c.945C>A (p.Val315=) | |
| X | g.154533589A= | CA2740130049 | G6PD | c.851T= (p.Val284=) c.854T= (p.Val285=) c.714T= c.717T= c.703T= (p.Ser235=) c.*693T= (n.*693T=) c.989T= (p.Val330=) c.941T= (p.Val314=) n.240T= c.944T= (p.Val315=) | |
| X | g.154533589A>C | CA415235088 | G6PD | c.851T>G (p.Val284Gly) c.854T>G (p.Val285Gly) c.714T>G c.717T>G c.703T>G (p.Ser235Ala) c.*693T>G (n.*693T>G) c.989T>G (p.Val330Gly) c.941T>G (p.Val314Gly) n.240T>G c.944T>G (p.Val315Gly) | |
| X | g.154533589A>G | CA415235091 | G6PD | c.851T>C (p.Val284Ala) c.854T>C (p.Val285Ala) c.714T>C c.717T>C c.703T>C (p.Ser235Pro) c.*693T>C (n.*693T>C) c.989T>C (p.Val330Ala) c.941T>C (p.Val314Ala) n.240T>C c.944T>C (p.Val315Ala) | ClinVar |
| X | g.154533589A>T | CA415235090 | G6PD | c.851T>A (p.Val284Asp) c.854T>A (p.Val285Asp) c.714T>A c.717T>A c.703T>A (p.Ser235Thr) c.*693T>A (n.*693T>A) c.989T>A (p.Val330Asp) c.941T>A (p.Val314Asp) n.240T>A c.944T>A (p.Val315Asp) | |
| X | g.154533590C>A | CA415235094 | G6PD | c.850G>T (p.Val284Phe) c.853G>T (p.Val285Phe) c.713G>T c.716G>T c.702G>T (p.Thr234=) c.*692G>T (n.*692G>T) c.988G>T (p.Val330Phe) c.940G>T (p.Val314Phe) n.239G>T c.943G>T (p.Val315Phe) | |
| X | g.154533590C= | CA2466723828 | G6PD | c.850G= (p.Val284=) c.853G= (p.Val285=) c.713G= c.716G= c.702G= (p.Thr234=) c.*692G= (n.*692G=) c.988G= (p.Val330=) c.940G= (p.Val314=) n.239G= c.943G= (p.Val315=) | |
| X | g.154533590C>G | CA415235098 | G6PD | c.850G>C (p.Val284Leu) c.853G>C (p.Val285Leu) c.713G>C c.716G>C c.702G>C (p.Thr234=) c.*692G>C (n.*692G>C) c.988G>C (p.Val330Leu) c.940G>C (p.Val314Leu) n.239G>C c.943G>C (p.Val315Leu) | |
| X | g.154533590C>T | CA415235096 | G6PD | c.850G>A (p.Val284Ile) c.853G>A (p.Val285Ile) c.713G>A c.716G>A c.702G>A (p.Thr234=) c.*692G>A (n.*692G>A) c.988G>A (p.Val330Ile) c.940G>A (p.Val314Ile) n.239G>A c.943G>A (p.Val315Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154533591G>A | CA10566137 | G6PD | c.849C>T (p.Asp283=) c.852C>T (p.Asp284=) c.712C>T c.715C>T c.701C>T (p.Thr234Met) c.*691C>T (n.*691C>T) c.987C>T (p.Asp329=) c.939C>T (p.Asp313=) n.238C>T c.942C>T (p.Asp314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.154533591G>C | CA415235102 | G6PD | c.849C>G (p.Asp283Glu) c.852C>G (p.Asp284Glu) c.712C>G c.715C>G c.701C>G (p.Thr234Arg) c.*691C>G (n.*691C>G) c.987C>G (p.Asp329Glu) c.939C>G (p.Asp313Glu) n.238C>G c.942C>G (p.Asp314Glu) | |
| X | g.154533591G= | CA2466723829 | G6PD | c.849C= (p.Asp283=) c.852C= (p.Asp284=) c.712C= c.715C= c.701C= (p.Thr234=) c.*691C= (n.*691C=) c.987C= (p.Asp329=) c.939C= (p.Asp313=) n.238C= c.942C= (p.Asp314=) | |
| X | g.154533591G>T | CA415235100 | G6PD | c.849C>A (p.Asp283Glu) c.852C>A (p.Asp284Glu) c.712C>A c.715C>A c.701C>A (p.Thr234Lys) c.*691C>A (n.*691C>A) c.987C>A (p.Asp329Glu) c.939C>A (p.Asp313Glu) n.238C>A c.942C>A (p.Asp314Glu) | |
| X | g.154533592T>A | CA415235104 | G6PD | c.848A>T (p.Asp283Val) c.851A>T (p.Asp284Val) c.711A>T c.714A>T c.700A>T (p.Thr234Ser) c.*690A>T (n.*690A>T) c.986A>T (p.Asp329Val) c.938A>T (p.Asp313Val) n.237A>T c.941A>T (p.Asp314Val) | ClinVar dbSNP |
| X | g.154533592T>C | CA415235106 | G6PD | c.848A>G (p.Asp283Gly) c.851A>G (p.Asp284Gly) c.711A>G c.714A>G c.700A>G (p.Thr234Ala) c.*690A>G (n.*690A>G) c.986A>G (p.Asp329Gly) c.938A>G (p.Asp313Gly) n.237A>G c.941A>G (p.Asp314Gly) | ClinVar |
| X | g.154533592T>G | CA415235108 | G6PD | c.848A>C (p.Asp283Ala) c.851A>C (p.Asp284Ala) c.711A>C c.714A>C c.700A>C (p.Thr234Pro) c.*690A>C (n.*690A>C) c.986A>C (p.Asp329Ala) c.938A>C (p.Asp313Ala) n.237A>C c.941A>C (p.Asp314Ala) | |
| X | g.154533592T= | CA2466723830 | G6PD | c.848A= (p.Asp283=) c.851A= (p.Asp284=) c.711A= c.714A= c.700A= (p.Thr234=) c.*690A= (n.*690A=) c.986A= (p.Asp329=) c.938A= (p.Asp313=) n.237A= c.941A= (p.Asp314=) | |
| X | g.154533593C>A | CA415235110 | G6PD | c.847G>T (p.Asp283Tyr) c.850G>T (p.Asp284Tyr) c.710G>T c.713G>T c.699G>T (p.Met233Ile) c.*689G>T (n.*689G>T) c.985G>T (p.Asp329Tyr) c.937G>T (p.Asp313Tyr) n.236G>T c.940G>T (p.Asp314Tyr) | |
| X | g.154533593C>G | CA415235112 | G6PD | c.847G>C (p.Asp283His) c.850G>C (p.Asp284His) c.710G>C c.713G>C c.699G>C (p.Met233Ile) c.*689G>C (n.*689G>C) c.985G>C (p.Asp329His) c.937G>C (p.Asp313His) n.236G>C c.940G>C (p.Asp314His) | |
| X | g.154533593C>T | CA415235113 | G6PD | c.847G>A (p.Asp283Asn) c.850G>A (p.Asp284Asn) c.710G>A c.713G>A c.699G>A (p.Met233Ile) c.*689G>A (n.*689G>A) c.985G>A (p.Asp329Asn) c.937G>A (p.Asp313Asn) n.236G>A c.940G>A (p.Asp314Asn) | |
| X | g.154533594A>C | CA415235115 | G6PD | c.846T>G (p.Asp282Glu) c.849T>G (p.Asp283Glu) c.709T>G c.712T>G c.698T>G (p.Met233Arg) c.*688T>G (n.*688T>G) c.984T>G (p.Asp328Glu) c.936T>G (p.Asp312Glu) n.235T>G c.939T>G (p.Asp313Glu) | |
| X | g.154533594A>G | CA519304315 | G6PD | c.846T>C (p.Asp282=) c.849T>C (p.Asp283=) c.709T>C c.712T>C c.698T>C (p.Met233Thr) c.*688T>C (n.*688T>C) c.984T>C (p.Asp328=) c.936T>C (p.Asp312=) n.235T>C c.939T>C (p.Asp313=) | gnomAD v4 |
| X | g.154533594A>T | CA415235117 | G6PD | c.846T>A (p.Asp282Glu) c.849T>A (p.Asp283Glu) c.709T>A c.712T>A c.698T>A (p.Met233Lys) c.*688T>A (n.*688T>A) c.984T>A (p.Asp328Glu) c.936T>A (p.Asp312Glu) n.235T>A c.939T>A (p.Asp313Glu) | |
| X | g.154533595T>A | CA415235123 | G6PD | c.845A>T (p.Asp282Val) c.848A>T (p.Asp283Val) c.708A>T c.711A>T c.697A>T (p.Met233Leu) c.*687A>T (n.*687A>T) c.983A>T (p.Asp328Val) c.935A>T (p.Asp312Val) n.234A>T c.938A>T (p.Asp313Val) | |
| X | g.154533595T>C | CA415235121 | G6PD | c.845A>G (p.Asp282Gly) c.848A>G (p.Asp283Gly) c.708A>G c.711A>G c.697A>G (p.Met233Val) c.*687A>G (n.*687A>G) c.983A>G (p.Asp328Gly) c.935A>G (p.Asp312Gly) n.234A>G c.938A>G (p.Asp313Gly) | dbSNP |
| X | g.154533595T>G | CA415235119 | G6PD | c.845A>C (p.Asp282Ala) c.848A>C (p.Asp283Ala) c.708A>C c.711A>C c.697A>C (p.Met233Leu) c.*687A>C (n.*687A>C) c.983A>C (p.Asp328Ala) c.935A>C (p.Asp312Ala) n.234A>C c.938A>C (p.Asp313Ala) | |
| X | g.154533595T= | CA2466723831 | G6PD | c.845A= (p.Asp282=) c.848A= (p.Asp283=) c.708A= c.711A= c.697A= (p.Met233=) c.*687A= (n.*687A=) c.983A= (p.Asp328=) c.935A= (p.Asp312=) n.234A= c.938A= (p.Asp313=) | |
| X | g.154533596C>A | CA415235126 | G6PD | c.844G>T (p.Asp282Tyr) c.847G>T (p.Asp283Tyr) c.707G>T c.710G>T c.696G>T (p.Gln232His) c.*686G>T (n.*686G>T) c.982G>T (p.Asp328Tyr) c.934G>T (p.Asp312Tyr) n.233G>T c.937G>T (p.Asp313Tyr) | ClinVar dbSNP |
| X | g.154533596C= | CA2466723832 | G6PD | c.844G= (p.Asp282=) c.847G= (p.Asp283=) c.707G= c.710G= c.696G= (p.Gln232=) c.*686G= (n.*686G=) c.982G= (p.Asp328=) c.934G= (p.Asp312=) n.233G= c.937G= (p.Asp313=) | |
| X | g.154533596C>G | CA120963 | G6PD | c.844G>C (p.Asp282His) c.847G>C (p.Asp283His) c.707G>C c.710G>C c.696G>C (p.Gln232His) c.*686G>C (n.*686G>C) c.982G>C (p.Asp328His) c.934G>C (p.Asp312His) n.233G>C c.937G>C (p.Asp313His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154533596C>T | CA10566138 | G6PD | c.844G>A (p.Asp282Asn) c.847G>A (p.Asp283Asn) c.707G>A c.710G>A c.696G>A (p.Gln232=) c.*686G>A (n.*686G>A) c.982G>A (p.Asp328Asn) c.934G>A (p.Asp312Asn) n.233G>A c.937G>A (p.Asp313Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154533597T>A | CA519304343 | G6PD | c.843A>T (p.Ser281=) c.846A>T (p.Ser282=) c.706A>T c.709A>T c.695A>T (p.Gln232Leu) c.*685A>T (n.*685A>T) c.981A>T (p.Ser327=) c.933A>T (p.Ser311=) n.232A>T c.936A>T (p.Ser312=) | |
| X | g.154533597T>C | CA519304345 | G6PD | c.843A>G (p.Ser281=) c.846A>G (p.Ser282=) c.706A>G c.709A>G c.695A>G (p.Gln232Arg) c.*685A>G (n.*685A>G) c.981A>G (p.Ser327=) c.933A>G (p.Ser311=) n.232A>G c.936A>G (p.Ser312=) | |
| X | g.154533597T>G | CA519304347 | G6PD | c.843A>C (p.Ser281=) c.846A>C (p.Ser282=) c.706A>C c.709A>C c.695A>C (p.Gln232Pro) c.*685A>C (n.*685A>C) c.981A>C (p.Ser327=) c.933A>C (p.Ser311=) n.232A>C c.936A>C (p.Ser312=) | |
| X | g.154533598G>A | CA415235129 | G6PD | c.842C>T (p.Ser281Leu) c.845C>T (p.Ser282Leu) c.705C>T c.708C>T c.694C>T (p.Gln232Ter) c.*684C>T (n.*684C>T) c.980C>T (p.Ser327Leu) c.932C>T (p.Ser311Leu) n.231C>T c.935C>T (p.Ser312Leu) | |
| X | g.154533598G>C | CA415235131 | G6PD | c.842C>G (p.Ser281Ter) c.845C>G (p.Ser282Ter) c.705C>G c.708C>G c.694C>G (p.Gln232Glu) c.*684C>G (n.*684C>G) c.980C>G (p.Ser327Ter) c.932C>G (p.Ser311Ter) n.231C>G c.935C>G (p.Ser312Ter) | |
| X | g.154533598G>T | CA415235133 | G6PD | c.842C>A (p.Ser281Ter) c.845C>A (p.Ser282Ter) c.705C>A c.708C>A c.694C>A (p.Gln232Lys) c.*684C>A (n.*684C>A) c.980C>A (p.Ser327Ter) c.932C>A (p.Ser311Ter) n.231C>A c.935C>A (p.Ser312Ter) | |
| X | g.154533599A>C | CA415235135 | G6PD | c.841T>G (p.Ser281Ala) c.844T>G (p.Ser282Ala) c.704T>G c.707T>G c.693T>G (p.Thr231=) c.*683T>G (n.*683T>G) c.979T>G (p.Ser327Ala) c.931T>G (p.Ser311Ala) n.230T>G c.934T>G (p.Ser312Ala) | gnomAD v4 |
| X | g.154533599A>G | CA415235136 | G6PD | c.841T>C (p.Ser281Pro) c.844T>C (p.Ser282Pro) c.704T>C c.707T>C c.693T>C (p.Thr231=) c.*683T>C (n.*683T>C) c.979T>C (p.Ser327Pro) c.931T>C (p.Ser311Pro) n.230T>C c.934T>C (p.Ser312Pro) | |
| X | g.154533599A>T | CA415235138 | G6PD | c.841T>A (p.Ser281Thr) c.844T>A (p.Ser282Thr) c.704T>A c.707T>A c.693T>A (p.Thr231=) c.*683T>A (n.*683T>A) c.979T>A (p.Ser327Thr) c.931T>A (p.Ser311Thr) n.230T>A c.934T>A (p.Ser312Thr) | |
| X | g.154533600G>A | CA10566139 | G6PD | c.840C>T (p.Asn280=) c.843C>T (p.Asn281=) c.703C>T c.706C>T c.692C>T (p.Thr231Ile) c.*682C>T (n.*682C>T) c.978C>T (p.Asn326=) c.930C>T (p.Asn310=) n.229C>T c.933C>T (p.Asn311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154533600G>C | CA415235141 | G6PD | c.840C>G (p.Asn280Lys) c.843C>G (p.Asn281Lys) c.703C>G c.706C>G c.692C>G (p.Thr231Ser) c.*682C>G (n.*682C>G) c.978C>G (p.Asn326Lys) c.930C>G (p.Asn310Lys) n.229C>G c.933C>G (p.Asn311Lys) | |
| X | g.154533600G= | CA2466723833 | G6PD | c.840C= (p.Asn280=) c.843C= (p.Asn281=) c.703C= c.706C= c.692C= (p.Thr231=) c.*682C= (n.*682C=) c.978C= (p.Asn326=) c.930C= (p.Asn310=) n.229C= c.933C= (p.Asn311=) | |
| X | g.154533600G>T | CA415235139 | G6PD | c.840C>A (p.Asn280Lys) c.843C>A (p.Asn281Lys) c.703C>A c.706C>A c.692C>A (p.Thr231Asn) c.*682C>A (n.*682C>A) c.978C>A (p.Asn326Lys) c.930C>A (p.Asn310Lys) n.229C>A c.933C>A (p.Asn311Lys) | |
| X | g.154533601T>A | CA415235143 | G6PD | c.839A>T (p.Asn280Ile) c.842A>T (p.Asn281Ile) c.702A>T c.705A>T c.691A>T (p.Thr231Ser) c.*681A>T (n.*681A>T) c.977A>T (p.Asn326Ile) c.929A>T (p.Asn310Ile) n.228A>T c.932A>T (p.Asn311Ile) | gnomAD v4 |
| X | g.154533601T>C | CA415235145 | G6PD | c.839A>G (p.Asn280Ser) c.842A>G (p.Asn281Ser) c.702A>G c.705A>G c.691A>G (p.Thr231Ala) c.*681A>G (n.*681A>G) c.977A>G (p.Asn326Ser) c.929A>G (p.Asn310Ser) n.228A>G c.932A>G (p.Asn311Ser) | |
| X | g.154533601T>G | CA415235146 | G6PD | c.839A>C (p.Asn280Thr) c.842A>C (p.Asn281Thr) c.702A>C c.705A>C c.691A>C (p.Thr231Pro) c.*681A>C (n.*681A>C) c.977A>C (p.Asn326Thr) c.929A>C (p.Asn310Thr) n.228A>C c.932A>C (p.Asn311Thr) | |
| X | g.154533602T>A | CA415235149 | G6PD | c.838A>T (p.Asn280Tyr) c.841A>T (p.Asn281Tyr) c.701A>T c.704A>T c.690A>T (p.Pro230=) c.*680A>T (n.*680A>T) c.976A>T (p.Asn326Tyr) c.928A>T (p.Asn310Tyr) n.227A>T c.931A>T (p.Asn311Tyr) | |
| X | g.154533602T>C | CA415235151 | G6PD | c.838A>G (p.Asn280Asp) c.841A>G (p.Asn281Asp) c.701A>G c.704A>G c.690A>G (p.Pro230=) c.*680A>G (n.*680A>G) c.976A>G (p.Asn326Asp) c.928A>G (p.Asn310Asp) n.227A>G c.931A>G (p.Asn311Asp) | |
| X | g.154533602T>G | CA415235152 | G6PD | c.838A>C (p.Asn280His) c.841A>C (p.Asn281His) c.701A>C c.704A>C c.690A>C (p.Pro230=) c.*680A>C (n.*680A>C) c.976A>C (p.Asn326His) c.928A>C (p.Asn310His) n.227A>C c.931A>C (p.Asn311His) | |
| X | g.154533605_154533607del | CA2739272788 | G6PD | c.836_838del (p.Thr279del) c.839_841del (p.Thr280del) c.699_701del c.702_704del c.688_690del (p.Pro230del) c.*678_*680del (n.*678_*680del) c.974_976del (p.Thr325del) c.926_928del (p.Thr309del) n.225_227del c.929_931del (p.Thr310del) | ClinVar |
| X | g.154533603G>A | CA519304368 | G6PD | c.837C>T (p.Thr279=) c.840C>T (p.Thr280=) c.700C>T c.703C>T c.689C>T (p.Pro230Leu) c.*679C>T (n.*679C>T) c.975C>T (p.Thr325=) c.927C>T (p.Thr309=) n.226C>T c.930C>T (p.Thr310=) | |
| X | g.154533603G>C | CA519304370 | G6PD | c.837C>G (p.Thr279=) c.840C>G (p.Thr280=) c.700C>G c.703C>G c.689C>G (p.Pro230Arg) c.*679C>G (n.*679C>G) c.975C>G (p.Thr325=) c.927C>G (p.Thr309=) n.226C>G c.930C>G (p.Thr310=) | |
| X | g.154533603G>T | CA519304372 | G6PD | c.837C>A (p.Thr279=) c.840C>A (p.Thr280=) c.700C>A c.703C>A c.689C>A (p.Pro230Gln) c.*679C>A (n.*679C>A) c.975C>A (p.Thr325=) c.927C>A (p.Thr309=) n.226C>A c.930C>A (p.Thr310=) | gnomAD v4 |
| X | g.154533604G>A | CA415235155 | G6PD | c.836C>T (p.Thr279Ile) c.839C>T (p.Thr280Ile) c.699C>T c.702C>T c.688C>T (p.Pro230Ser) c.*678C>T (n.*678C>T) c.974C>T (p.Thr325Ile) c.926C>T (p.Thr309Ile) n.225C>T c.929C>T (p.Thr310Ile) | dbSNP gnomAD v4 |
| X | g.154533604G>C | CA415235156 | G6PD | c.836C>G (p.Thr279Ser) c.839C>G (p.Thr280Ser) c.699C>G c.702C>G c.688C>G (p.Pro230Ala) c.*678C>G (n.*678C>G) c.974C>G (p.Thr325Ser) c.926C>G (p.Thr309Ser) n.225C>G c.929C>G (p.Thr310Ser) | |
| X | g.154533604G= | CA2466723834 | G6PD | c.836C= (p.Thr279=) c.839C= (p.Thr280=) c.699C= c.702C= c.688C= (p.Pro230=) c.*678C= (n.*678C=) c.974C= (p.Thr325=) c.926C= (p.Thr309=) n.225C= c.929C= (p.Thr310=) | |
| X | g.154533604G>T | CA415235158 | G6PD | c.836C>A (p.Thr279Asn) c.839C>A (p.Thr280Asn) c.699C>A c.702C>A c.688C>A (p.Pro230Thr) c.*678C>A (n.*678C>A) c.974C>A (p.Thr325Asn) c.926C>A (p.Thr309Asn) n.225C>A c.929C>A (p.Thr310Asn) | |
| X | g.154533605T>A | CA415235160 | G6PD | c.835A>T (p.Thr279Ser) c.838A>T (p.Thr280Ser) c.698A>T c.701A>T c.687A>T (p.Pro229=) c.*677A>T (n.*677A>T) c.973A>T (p.Thr325Ser) c.925A>T (p.Thr309Ser) n.224A>T c.928A>T (p.Thr310Ser) | ClinVar dbSNP |
| X | g.154533605T>C | CA415235162 | G6PD | c.835A>G (p.Thr279Ala) c.838A>G (p.Thr280Ala) c.698A>G c.701A>G c.687A>G (p.Pro229=) c.*677A>G (n.*677A>G) c.973A>G (p.Thr325Ala) c.925A>G (p.Thr309Ala) n.224A>G c.928A>G (p.Thr310Ala) | ClinVar |
| X | g.154533605T>G | CA415235164 | G6PD | c.835A>C (p.Thr279Pro) c.838A>C (p.Thr280Pro) c.698A>C c.701A>C c.687A>C (p.Pro229=) c.*677A>C (n.*677A>C) c.973A>C (p.Thr325Pro) c.925A>C (p.Thr309Pro) n.224A>C c.928A>C (p.Thr310Pro) | |
| X | g.154533605T= | CA2740130050 | G6PD | c.835A= (p.Thr279=) c.838A= (p.Thr280=) c.698A= c.701A= c.687A= (p.Pro229=) c.*677A= (n.*677A=) c.973A= (p.Thr325=) c.925A= (p.Thr309=) n.224A= c.928A= (p.Thr310=) | |
| X | g.154533606G>A | CA519304381 | G6PD | c.834C>T (p.Ser278=) c.837C>T (p.Ser279=) c.697C>T c.700C>T c.686C>T (p.Pro229Leu) c.*676C>T (n.*676C>T) c.972C>T (p.Ser324=) c.924C>T (p.Ser308=) n.223C>T c.927C>T (p.Ser309=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154533606G>C | CA519304383 | G6PD | c.834C>G (p.Ser278=) c.837C>G (p.Ser279=) c.697C>G c.700C>G c.686C>G (p.Pro229Arg) c.*676C>G (n.*676C>G) c.972C>G (p.Ser324=) c.924C>G (p.Ser308=) n.223C>G c.927C>G (p.Ser309=) | |
| X | g.154533606G= | CA2466723835 | G6PD | c.834C= (p.Ser278=) c.837C= (p.Ser279=) c.697C= c.700C= c.686C= (p.Pro229=) c.*676C= (n.*676C=) c.972C= (p.Ser324=) c.924C= (p.Ser308=) n.223C= c.927C= (p.Ser309=) | |
| X | g.154533606G>T | CA519304385 | G6PD | c.834C>A (p.Ser278=) c.837C>A (p.Ser279=) c.697C>A c.700C>A c.686C>A (p.Pro229Gln) c.*676C>A (n.*676C>A) c.972C>A (p.Ser324=) c.924C>A (p.Ser308=) n.223C>A c.927C>A (p.Ser309=) | |
| X | g.154533607G>A | CA415235166 | G6PD | c.833C>T (p.Ser278Phe) c.836C>T (p.Ser279Phe) c.696C>T c.699C>T c.685C>T (p.Pro229Ser) c.*675C>T (n.*675C>T) c.971C>T (p.Ser324Phe) c.923C>T (p.Ser308Phe) n.222C>T c.926C>T (p.Ser309Phe) | ClinVar |
| X | g.154533607G>C | CA415235170 | G6PD | c.833C>G (p.Ser278Cys) c.836C>G (p.Ser279Cys) c.696C>G c.699C>G c.685C>G (p.Pro229Ala) c.*675C>G (n.*675C>G) c.971C>G (p.Ser324Cys) c.923C>G (p.Ser308Cys) n.222C>G c.926C>G (p.Ser309Cys) | |
| X | g.154533607G= | CA2740130051 | G6PD | c.833C= (p.Ser278=) c.836C= (p.Ser279=) c.696C= c.699C= c.685C= (p.Pro229=) c.*675C= (n.*675C=) c.971C= (p.Ser324=) c.923C= (p.Ser308=) n.222C= c.926C= (p.Ser309=) | |
| X | g.154533607G>T | CA415235168 | G6PD | c.833C>A (p.Ser278Tyr) c.836C>A (p.Ser279Tyr) c.696C>A c.699C>A c.685C>A (p.Pro229Thr) c.*675C>A (n.*675C>A) c.971C>A (p.Ser324Tyr) c.923C>A (p.Ser308Tyr) n.222C>A c.926C>A (p.Ser309Tyr) | |
| X | g.154533608A= | CA2740130052 | G6PD | c.832T= (p.Ser278=) c.835T= (p.Ser279=) c.695T= c.698T= c.684T= (p.Pro228=) c.*674T= (n.*674T=) c.970T= (p.Ser324=) c.922T= (p.Ser308=) n.221T= c.925T= (p.Ser309=) | |
| X | g.154533608A>C | CA415235172 | G6PD | c.832T>G (p.Ser278Ala) c.835T>G (p.Ser279Ala) c.695T>G c.698T>G c.684T>G (p.Pro228=) c.*674T>G (n.*674T>G) c.970T>G (p.Ser324Ala) c.922T>G (p.Ser308Ala) n.221T>G c.925T>G (p.Ser309Ala) | |
| X | g.154533608A>G | CA415235173 | G6PD | c.832T>C (p.Ser278Pro) c.835T>C (p.Ser279Pro) c.695T>C c.698T>C c.684T>C (p.Pro228=) c.*674T>C (n.*674T>C) c.970T>C (p.Ser324Pro) c.922T>C (p.Ser308Pro) n.221T>C c.925T>C (p.Ser309Pro) | ClinVar |
| X | g.154533608A>T | CA415235175 | G6PD | c.832T>A (p.Ser278Thr) c.835T>A (p.Ser279Thr) c.695T>A c.698T>A c.684T>A (p.Pro228=) c.*674T>A (n.*674T>A) c.970T>A (p.Ser324Thr) c.922T>A (p.Ser308Thr) n.221T>A c.925T>A (p.Ser309Thr) | |
| X | g.154533609G>A | CA519304404 | G6PD | c.831C>T (p.Ala277=) c.834C>T (p.Ala278=) c.694C>T c.697C>T c.683C>T (p.Pro228Leu) c.*673C>T (n.*673C>T) c.969C>T (p.Ala323=) c.921C>T (p.Ala307=) n.220C>T c.924C>T (p.Ala308=) | |
| X | g.154533609G>C | CA519304400 | G6PD | c.831C>G (p.Ala277=) c.834C>G (p.Ala278=) c.694C>G c.697C>G c.683C>G (p.Pro228Arg) c.*673C>G (n.*673C>G) c.969C>G (p.Ala323=) c.921C>G (p.Ala307=) n.220C>G c.924C>G (p.Ala308=) | |
| X | g.154533609G>T | CA519304402 | G6PD | c.831C>A (p.Ala277=) c.834C>A (p.Ala278=) c.694C>A c.697C>A c.683C>A (p.Pro228His) c.*673C>A (n.*673C>A) c.969C>A (p.Ala323=) c.921C>A (p.Ala307=) n.220C>A c.924C>A (p.Ala308=) | |
| X | g.154533610G>A | CA415235177 | G6PD | c.830C>T (p.Ala277Val) c.833C>T (p.Ala278Val) c.693C>T c.696C>T c.682C>T (p.Pro228Ser) c.*672C>T (n.*672C>T) c.968C>T (p.Ala323Val) c.920C>T (p.Ala307Val) n.219C>T c.923C>T (p.Ala308Val) | gnomAD v4 |
| X | g.154533610G>C | CA415235179 | G6PD | c.830C>G (p.Ala277Gly) c.833C>G (p.Ala278Gly) c.693C>G c.696C>G c.682C>G (p.Pro228Ala) c.*672C>G (n.*672C>G) c.968C>G (p.Ala323Gly) c.920C>G (p.Ala307Gly) n.219C>G c.923C>G (p.Ala308Gly) | |
| X | g.154533610G>T | CA415235180 | G6PD | c.830C>A (p.Ala277Asp) c.833C>A (p.Ala278Asp) c.693C>A c.696C>A c.682C>A (p.Pro228Thr) c.*672C>A (n.*672C>A) c.968C>A (p.Ala323Asp) c.920C>A (p.Ala307Asp) n.219C>A c.923C>A (p.Ala308Asp) | |
| X | g.154533611C>A | CA415235183 | G6PD | c.829G>T (p.Ala277Ser) c.832G>T (p.Ala278Ser) c.692G>T c.695G>T c.681G>T (p.Pro227=) c.*671G>T (n.*671G>T) c.967G>T (p.Ala323Ser) c.919G>T (p.Ala307Ser) n.218G>T c.922G>T (p.Ala308Ser) | ClinVar dbSNP |
| X | g.154533611C= | CA2466723836 | G6PD | c.829G= (p.Ala277=) c.832G= (p.Ala278=) c.692G= c.695G= c.681G= (p.Pro227=) c.*671G= (n.*671G=) c.967G= (p.Ala323=) c.919G= (p.Ala307=) n.218G= c.922G= (p.Ala308=) | |
| X | g.154533611C>G | CA415235185 | G6PD | c.829G>C (p.Ala277Pro) c.832G>C (p.Ala278Pro) c.692G>C c.695G>C c.681G>C (p.Pro227=) c.*671G>C (n.*671G>C) c.967G>C (p.Ala323Pro) c.919G>C (p.Ala307Pro) n.218G>C c.922G>C (p.Ala308Pro) | |
| X | g.154533611C>T | CA415235186 | G6PD | c.829G>A (p.Ala277Thr) c.832G>A (p.Ala278Thr) c.692G>A c.695G>A c.681G>A (p.Pro227=) c.*671G>A (n.*671G>A) c.967G>A (p.Ala323Thr) c.919G>A (p.Ala307Thr) n.218G>A c.922G>A (p.Ala308Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.154533612G>A | CA10566140 | G6PD | c.828C>T (p.Pro276=) c.831C>T (p.Pro277=) c.691C>T c.694C>T c.680C>T (p.Pro227Leu) c.*670C>T (n.*670C>T) c.966C>T (p.Pro322=) c.918C>T (p.Pro306=) n.217C>T c.921C>T (p.Pro307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154533612G>C | CA519304418 | G6PD | c.828C>G (p.Pro276=) c.831C>G (p.Pro277=) c.691C>G c.694C>G c.680C>G (p.Pro227Arg) c.*670C>G (n.*670C>G) c.966C>G (p.Pro322=) c.918C>G (p.Pro306=) n.217C>G c.921C>G (p.Pro307=) | gnomAD v4 |
| X | g.154533612G= | CA2466723837 | G6PD | c.828C= (p.Pro276=) c.831C= (p.Pro277=) c.691C= c.694C= c.680C= (p.Pro227=) c.*670C= (n.*670C=) c.966C= (p.Pro322=) c.918C= (p.Pro306=) n.217C= c.921C= (p.Pro307=) | |
| X | g.154533612G>T | CA519304420 | G6PD | c.828C>A (p.Pro276=) c.831C>A (p.Pro277=) c.691C>A c.694C>A c.680C>A (p.Pro227Gln) c.*670C>A (n.*670C>A) c.966C>A (p.Pro322=) c.918C>A (p.Pro306=) n.217C>A c.921C>A (p.Pro307=) | |
| X | g.154533613G>A | CA415235192 | G6PD | c.827C>T (p.Pro276Leu) c.830C>T (p.Pro277Leu) c.690C>T c.693C>T c.679C>T (p.Pro227Ser) c.*669C>T (n.*669C>T) c.965C>T (p.Pro322Leu) c.917C>T (p.Pro306Leu) n.216C>T c.920C>T (p.Pro307Leu) | ClinVar |
| X | g.154533613G>C | CA415235194 | G6PD | c.827C>G (p.Pro276Arg) c.830C>G (p.Pro277Arg) c.690C>G c.693C>G c.679C>G (p.Pro227Ala) c.*669C>G (n.*669C>G) c.965C>G (p.Pro322Arg) c.917C>G (p.Pro306Arg) n.216C>G c.920C>G (p.Pro307Arg) | |
| X | g.154533613G>T | CA415235190 | G6PD | c.827C>A (p.Pro276His) c.830C>A (p.Pro277His) c.690C>A c.693C>A c.679C>A (p.Pro227Thr) c.*669C>A (n.*669C>A) c.965C>A (p.Pro322His) c.917C>A (p.Pro306His) n.216C>A c.920C>A (p.Pro307His) | |
| X | g.154533614G>A | CA415235198 | G6PD | c.826C>T (p.Pro276Ser) c.829C>T (p.Pro277Ser) c.689C>T c.692C>T c.678C>T (p.Ser226=) c.*668C>T (n.*668C>T) c.964C>T (p.Pro322Ser) c.916C>T (p.Pro306Ser) n.215C>T c.919C>T (p.Pro307Ser) | ClinVar |
| X | g.154533614G>C | CA415235196 | G6PD | c.826C>G (p.Pro276Ala) c.829C>G (p.Pro277Ala) c.689C>G c.692C>G c.678C>G (p.Ser226Arg) c.*668C>G (n.*668C>G) c.964C>G (p.Pro322Ala) c.916C>G (p.Pro306Ala) n.215C>G c.919C>G (p.Pro307Ala) | |
| X | g.154533614G= | CA2740130053 | G6PD | c.826C= (p.Pro276=) c.829C= (p.Pro277=) c.689C= c.692C= c.678C= (p.Ser226=) c.*668C= (n.*668C=) c.964C= (p.Pro322=) c.916C= (p.Pro306=) n.215C= c.919C= (p.Pro307=) | |
| X | g.154533614G>T | CA415235197 | G6PD | c.826C>A (p.Pro276Thr) c.829C>A (p.Pro277Thr) c.689C>A c.692C>A c.678C>A (p.Ser226Arg) c.*668C>A (n.*668C>A) c.964C>A (p.Pro322Thr) c.916C>A (p.Pro306Thr) n.215C>A c.919C>A (p.Pro307Thr) | |
| X | g.154533615C>A | CA415235200 | G6PD | c.825G>T (p.Lys275Asn) c.828G>T (p.Lys276Asn) c.688G>T c.691G>T c.677G>T (p.Ser226Ile) c.*667G>T (n.*667G>T) c.963G>T (p.Lys321Asn) c.915G>T (p.Lys305Asn) n.214G>T c.918G>T (p.Lys306Asn) | |
| X | g.154533615C= | CA2740130054 | G6PD | c.825G= (p.Lys275=) c.828G= (p.Lys276=) c.688G= c.691G= c.677G= (p.Ser226=) c.*667G= (n.*667G=) c.963G= (p.Lys321=) c.915G= (p.Lys305=) n.214G= c.918G= (p.Lys306=) | |
| X | g.154533615C>G | CA415235202 | G6PD | c.825G>C (p.Lys275Asn) c.828G>C (p.Lys276Asn) c.688G>C c.691G>C c.677G>C (p.Ser226Thr) c.*667G>C (n.*667G>C) c.963G>C (p.Lys321Asn) c.915G>C (p.Lys305Asn) n.214G>C c.918G>C (p.Lys306Asn) | ClinVar |
| X | g.154533615C>T | CA519304434 | G6PD | c.825G>A (p.Lys275=) c.828G>A (p.Lys276=) c.688G>A c.691G>A c.677G>A (p.Ser226Asn) c.*667G>A (n.*667G>A) c.963G>A (p.Lys321=) c.915G>A (p.Lys305=) n.214G>A c.918G>A (p.Lys306=) | |
| X | g.154533616T>A | CA415235204 | G6PD | c.824A>T (p.Lys275Met) c.827A>T (p.Lys276Met) c.687A>T c.690A>T c.676A>T (p.Ser226Cys) c.*666A>T (n.*666A>T) c.962A>T (p.Lys321Met) c.914A>T (p.Lys305Met) n.213A>T c.917A>T (p.Lys306Met) | |
| X | g.154533616T>C | CA415235206 | G6PD | c.824A>G (p.Lys275Arg) c.827A>G (p.Lys276Arg) c.687A>G c.690A>G c.676A>G (p.Ser226Gly) c.*666A>G (n.*666A>G) c.962A>G (p.Lys321Arg) c.914A>G (p.Lys305Arg) n.213A>G c.917A>G (p.Lys306Arg) | |
| X | g.154533616T>G | CA415235208 | G6PD | c.824A>C (p.Lys275Thr) c.827A>C (p.Lys276Thr) c.687A>C c.690A>C c.676A>C (p.Ser226Arg) c.*666A>C (n.*666A>C) c.962A>C (p.Lys321Thr) c.914A>C (p.Lys305Thr) n.213A>C c.917A>C (p.Lys306Thr) | |
| X | g.154533617T>A | CA415235210 | G6PD | c.823A>T (p.Lys275Ter) c.826A>T (p.Lys276Ter) c.686A>T c.689A>T c.675A>T (p.Arg225Ser) c.*665A>T (n.*665A>T) c.961A>T (p.Lys321Ter) c.913A>T (p.Lys305Ter) n.212A>T c.916A>T (p.Lys306Ter) | |
| X | g.154533617T>C | CA415235212 | G6PD | c.823A>G (p.Lys275Glu) c.826A>G (p.Lys276Glu) c.686A>G c.689A>G c.675A>G (p.Arg225=) c.*665A>G (n.*665A>G) c.961A>G (p.Lys321Glu) c.913A>G (p.Lys305Glu) n.212A>G c.916A>G (p.Lys306Glu) | |
| X | g.154533617T>G | CA415235217 | G6PD | c.823A>C (p.Lys275Gln) c.826A>C (p.Lys276Gln) c.686A>C c.689A>C c.675A>C (p.Arg225Ser) c.*665A>C (n.*665A>C) c.961A>C (p.Lys321Gln) c.913A>C (p.Lys305Gln) n.212A>C c.916A>C (p.Lys306Gln) | |
| X | g.154533618C>A | CA415235219 | G6PD | c.822G>T (p.Glu274Asp) c.825G>T (p.Glu275Asp) c.685G>T c.688G>T c.674G>T (p.Arg225Ile) c.*664G>T (n.*664G>T) c.960G>T (p.Glu320Asp) c.912G>T (p.Glu304Asp) n.211G>T c.915G>T (p.Glu305Asp) | |
| X | g.154533618C>G | CA415235221 | G6PD | c.822G>C (p.Glu274Asp) c.825G>C (p.Glu275Asp) c.685G>C c.688G>C c.674G>C (p.Arg225Thr) c.*664G>C (n.*664G>C) c.960G>C (p.Glu320Asp) c.912G>C (p.Glu304Asp) n.211G>C c.915G>C (p.Glu305Asp) | |
| X | g.154533618C>T | CA519304448 | G6PD | c.822G>A (p.Glu274=) c.825G>A (p.Glu275=) c.685G>A c.688G>A c.674G>A (p.Arg225Lys) c.*664G>A (n.*664G>A) c.960G>A (p.Glu320=) c.912G>A (p.Glu304=) n.211G>A c.915G>A (p.Glu305=) | |
| X | g.154533619T>A | CA415235223 | G6PD | c.821A>T (p.Glu274Val) c.824A>T (p.Glu275Val) c.684A>T c.687A>T c.673A>T (p.Arg225Ter) c.*663A>T (n.*663A>T) c.959A>T (p.Glu320Val) c.911A>T (p.Glu304Val) n.210A>T c.914A>T (p.Glu305Val) | ClinVar |
| X | g.154533619T>C | CA415235227 | G6PD | c.821A>G (p.Glu274Gly) c.824A>G (p.Glu275Gly) c.684A>G c.687A>G c.673A>G (p.Arg225Gly) c.*663A>G (n.*663A>G) c.959A>G (p.Glu320Gly) c.911A>G (p.Glu304Gly) n.210A>G c.914A>G (p.Glu305Gly) | |
| X | g.154533619T>G | CA415235225 | G6PD | c.821A>C (p.Glu274Ala) c.824A>C (p.Glu275Ala) c.684A>C c.687A>C c.673A>C (p.Arg225=) c.*663A>C (n.*663A>C) c.959A>C (p.Glu320Ala) c.911A>C (p.Glu304Ala) n.210A>C c.914A>C (p.Glu305Ala) | |
| X | g.154533619T= | CA2740130055 | G6PD | c.821A= (p.Glu274=) c.824A= (p.Glu275=) c.684A= c.687A= c.673A= (p.Arg225=) c.*663A= (n.*663A=) c.959A= (p.Glu320=) c.911A= (p.Glu304=) n.210A= c.914A= (p.Glu305=) | |
| X | g.154533620C>A | CA415235229 | G6PD | c.820G>T (p.Glu274Ter) c.823G>T (p.Glu275Ter) c.683G>T c.686G>T c.672G>T (p.Trp224Cys) c.*662G>T (n.*662G>T) c.958G>T (p.Glu320Ter) c.910G>T (p.Glu304Ter) n.209G>T c.913G>T (p.Glu305Ter) | |
| X | g.154533620C= | CA2740130056 | G6PD | c.820G= (p.Glu274=) c.823G= (p.Glu275=) c.683G= c.686G= c.672G= (p.Trp224=) c.*662G= (n.*662G=) c.958G= (p.Glu320=) c.910G= (p.Glu304=) n.209G= c.913G= (p.Glu305=) | |
| X | g.154533620C>G | CA415235231 | G6PD | c.820G>C (p.Glu274Gln) c.823G>C (p.Glu275Gln) c.683G>C c.686G>C c.672G>C (p.Trp224Cys) c.*662G>C (n.*662G>C) c.958G>C (p.Glu320Gln) c.910G>C (p.Glu304Gln) n.209G>C c.913G>C (p.Glu305Gln) | |
| X | g.154533620C>T | CA415235233 | G6PD | c.820G>A (p.Glu274Lys) c.823G>A (p.Glu275Lys) c.683G>A c.686G>A c.672G>A (p.Trp224Ter) c.*662G>A (n.*662G>A) c.958G>A (p.Glu320Lys) c.910G>A (p.Glu304Lys) n.209G>A c.913G>A (p.Glu305Lys) | ClinVar |
| X | g.154533621C>A | CA415235235 | G6PD | c.819G>T (p.Met273Ile) c.822G>T (p.Met274Ile) c.682G>T c.685G>T c.671G>T (p.Trp224Leu) c.*661G>T (n.*661G>T) c.957G>T (p.Met319Ile) c.909G>T (p.Met303Ile) n.208G>T c.912G>T (p.Met304Ile) | |
| X | g.154533621C>G | CA415235237 | G6PD | c.819G>C (p.Met273Ile) c.822G>C (p.Met274Ile) c.682G>C c.685G>C c.671G>C (p.Trp224Ser) c.*661G>C (n.*661G>C) c.957G>C (p.Met319Ile) c.909G>C (p.Met303Ile) n.208G>C c.912G>C (p.Met304Ile) | |
| X | g.154533621C>T | CA415235239 | G6PD | c.819G>A (p.Met273Ile) c.822G>A (p.Met274Ile) c.682G>A c.685G>A c.671G>A (p.Trp224Ter) c.*661G>A (n.*661G>A) c.957G>A (p.Met319Ile) c.909G>A (p.Met303Ile) n.208G>A c.912G>A (p.Met304Ile) | |
| X | g.154533622A>C | CA415235241 | G6PD | c.818T>G (p.Met273Arg) c.821T>G (p.Met274Arg) c.681T>G c.684T>G c.670T>G (p.Trp224Gly) c.*660T>G (n.*660T>G) c.956T>G (p.Met319Arg) c.908T>G (p.Met303Arg) n.207T>G c.911T>G (p.Met304Arg) | |
| X | g.154533622A>G | CA415235243 | G6PD | c.818T>C (p.Met273Thr) c.821T>C (p.Met274Thr) c.681T>C c.684T>C c.670T>C (p.Trp224Arg) c.*660T>C (n.*660T>C) c.956T>C (p.Met319Thr) c.908T>C (p.Met303Thr) n.207T>C c.911T>C (p.Met304Thr) | |
| X | g.154533622A>T | CA415235245 | G6PD | c.818T>A (p.Met273Lys) c.821T>A (p.Met274Lys) c.681T>A c.684T>A c.670T>A (p.Trp224Arg) c.*660T>A (n.*660T>A) c.956T>A (p.Met319Lys) c.908T>A (p.Met303Lys) n.207T>A c.911T>A (p.Met304Lys) | |
| X | g.154533623T>A | CA415235248 | G6PD | c.817A>T (p.Met273Leu) c.820A>T (p.Met274Leu) c.680A>T c.683A>T c.669A>T (p.Pro223=) c.*659A>T (n.*659A>T) c.955A>T (p.Met319Leu) c.907A>T (p.Met303Leu) n.206A>T c.910A>T (p.Met304Leu) | |
| X | g.154533623T>C | CA415235250 | G6PD | c.817A>G (p.Met273Val) c.820A>G (p.Met274Val) c.680A>G c.683A>G c.669A>G (p.Pro223=) c.*659A>G (n.*659A>G) c.955A>G (p.Met319Val) c.907A>G (p.Met303Val) n.206A>G c.910A>G (p.Met304Val) | |
| X | g.154533623T>G | CA415235246 | G6PD | c.817A>C (p.Met273Leu) c.820A>C (p.Met274Leu) c.680A>C c.683A>C c.669A>C (p.Pro223=) c.*659A>C (n.*659A>C) c.955A>C (p.Met319Leu) c.907A>C (p.Met303Leu) n.206A>C c.910A>C (p.Met304Leu) | |
| X | g.154533624G>A | CA519304471 | G6PD | c.816C>T (p.Ala272=) c.819C>T (p.Ala273=) c.679C>T c.682C>T c.668C>T (p.Pro223Leu) c.*658C>T (n.*658C>T) c.954C>T (p.Ala318=) c.906C>T (p.Ala302=) n.205C>T c.909C>T (p.Ala303=) | gnomAD v4 |
| X | g.154533624G>C | CA519304473 | G6PD | c.816C>G (p.Ala272=) c.819C>G (p.Ala273=) c.679C>G c.682C>G c.668C>G (p.Pro223Arg) c.*658C>G (n.*658C>G) c.954C>G (p.Ala318=) c.906C>G (p.Ala302=) n.205C>G c.909C>G (p.Ala303=) | |
| X | g.154533624G>T | CA519304475 | G6PD | c.816C>A (p.Ala272=) c.819C>A (p.Ala273=) c.679C>A c.682C>A c.668C>A (p.Pro223Gln) c.*658C>A (n.*658C>A) c.954C>A (p.Ala318=) c.906C>A (p.Ala302=) n.205C>A c.909C>A (p.Ala303=) | |
| X | g.154533625G>A | CA415235251 | G6PD | c.815C>T (p.Ala272Val) c.818C>T (p.Ala273Val) c.678C>T c.681C>T c.667C>T (p.Pro223Ser) c.*657C>T (n.*657C>T) c.953C>T (p.Ala318Val) c.905C>T (p.Ala302Val) n.204C>T c.908C>T (p.Ala303Val) | ClinVar dbSNP |
| X | g.154533625G>C | CA415235252 | G6PD | c.815C>G (p.Ala272Gly) c.818C>G (p.Ala273Gly) c.678C>G c.681C>G c.667C>G (p.Pro223Ala) c.*657C>G (n.*657C>G) c.953C>G (p.Ala318Gly) c.905C>G (p.Ala302Gly) n.204C>G c.908C>G (p.Ala303Gly) | |
| X | g.154533625G= | CA2466723838 | G6PD | c.815C= (p.Ala272=) c.818C= (p.Ala273=) c.678C= c.681C= c.667C= (p.Pro223=) c.*657C= (n.*657C=) c.953C= (p.Ala318=) c.905C= (p.Ala302=) n.204C= c.908C= (p.Ala303=) | |
| X | g.154533625G>T | CA415235254 | G6PD | c.815C>A (p.Ala272Asp) c.818C>A (p.Ala273Asp) c.678C>A c.681C>A c.667C>A (p.Pro223Thr) c.*657C>A (n.*657C>A) c.953C>A (p.Ala318Asp) c.905C>A (p.Ala302Asp) n.204C>A c.908C>A (p.Ala303Asp) | dbSNP |
| X | g.154533626C>A | CA415235256 | G6PD | c.814G>T (p.Ala272Ser) c.817G>T (p.Ala273Ser) c.677G>T c.680G>T c.666G>T (p.Trp222Cys) c.*656G>T (n.*656G>T) c.952G>T (p.Ala318Ser) c.904G>T (p.Ala302Ser) n.203G>T c.907G>T (p.Ala303Ser) | dbSNP |
| X | g.154533626C= | CA2466723839 | G6PD | c.814G= (p.Ala272=) c.817G= (p.Ala273=) c.677G= c.680G= c.666G= (p.Trp222=) c.*656G= (n.*656G=) c.952G= (p.Ala318=) c.904G= (p.Ala302=) n.203G= c.907G= (p.Ala303=) | |
| X | g.154533626C>G | CA415235258 | G6PD | c.814G>C (p.Ala272Pro) c.817G>C (p.Ala273Pro) c.677G>C c.680G>C c.666G>C (p.Trp222Cys) c.*656G>C (n.*656G>C) c.952G>C (p.Ala318Pro) c.904G>C (p.Ala302Pro) n.203G>C c.907G>C (p.Ala303Pro) | |
| X | g.154533626C>T | CA415235260 | G6PD | c.814G>A (p.Ala272Thr) c.817G>A (p.Ala273Thr) c.677G>A c.680G>A c.666G>A (p.Trp222Ter) c.*656G>A (n.*656G>A) c.952G>A (p.Ala318Thr) c.904G>A (p.Ala302Thr) n.203G>A c.907G>A (p.Ala303Thr) | COSMIC COSMIC COSMIC |
| X | g.154533627C>A | CA519304485 | G6PD | c.813G>T (p.Val271=) c.816G>T (p.Val272=) c.676G>T c.679G>T c.665G>T (p.Trp222Leu) c.*655G>T (n.*655G>T) c.951G>T (p.Val317=) c.903G>T (p.Val301=) n.202G>T c.906G>T (p.Val302=) | |
| X | g.154533627C= | CA2466723840 | G6PD | c.813G= (p.Val271=) c.816G= (p.Val272=) c.676G= c.679G= c.665G= (p.Trp222=) c.*655G= (n.*655G=) c.951G= (p.Val317=) c.903G= (p.Val301=) n.202G= c.906G= (p.Val302=) | |
| X | g.154533627C>G | CA519304487 | G6PD | c.813G>C (p.Val271=) c.816G>C (p.Val272=) c.676G>C c.679G>C c.665G>C (p.Trp222Ser) c.*655G>C (n.*655G>C) c.951G>C (p.Val317=) c.903G>C (p.Val301=) n.202G>C c.906G>C (p.Val302=) | |
| X | g.154533627C>T | CA10566141 | G6PD | c.813G>A (p.Val271=) c.816G>A (p.Val272=) c.676G>A c.679G>A c.665G>A (p.Trp222Ter) c.*655G>A (n.*655G>A) c.951G>A (p.Val317=) c.903G>A (p.Val301=) n.202G>A c.906G>A (p.Val302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154533628A>C | CA415235264 | G6PD | c.812T>G (p.Val271Gly) c.815T>G (p.Val272Gly) c.675T>G c.678T>G c.664T>G (p.Trp222Gly) c.*654T>G (n.*654T>G) c.950T>G (p.Val317Gly) c.902T>G (p.Val301Gly) n.201T>G c.905T>G (p.Val302Gly) | |
| X | g.154533628A>G | CA415235266 | G6PD | c.812T>C (p.Val271Ala) c.815T>C (p.Val272Ala) c.675T>C c.678T>C c.664T>C (p.Trp222Arg) c.*654T>C (n.*654T>C) c.950T>C (p.Val317Ala) c.902T>C (p.Val301Ala) n.201T>C c.905T>C (p.Val302Ala) | gnomAD v4 |
| X | g.154533628A>T | CA415235268 | G6PD | c.812T>A (p.Val271Glu) c.815T>A (p.Val272Glu) c.675T>A c.678T>A c.664T>A (p.Trp222Arg) c.*654T>A (n.*654T>A) c.950T>A (p.Val317Glu) c.902T>A (p.Val301Glu) n.201T>A c.905T>A (p.Val302Glu) | |
| X | g.154533629C>A | CA415235270 | G6PD | c.811G>T (p.Val271Leu) c.814G>T (p.Val272Leu) c.674G>T c.677G>T c.663G>T (p.Trp221Cys) c.*653G>T (n.*653G>T) c.949G>T (p.Val317Leu) c.901G>T (p.Val301Leu) n.200G>T c.904G>T (p.Val302Leu) | gnomAD v4 |
| X | g.154533629C= | CA2740130057 | G6PD | c.811G= (p.Val271=) c.814G= (p.Val272=) c.674G= c.677G= c.663G= (p.Trp221=) c.*653G= (n.*653G=) c.949G= (p.Val317=) c.901G= (p.Val301=) n.200G= c.904G= (p.Val302=) | |
| X | g.154533629C>G | CA415235272 | G6PD | c.811G>C (p.Val271Leu) c.814G>C (p.Val272Leu) c.674G>C c.677G>C c.663G>C (p.Trp221Cys) c.*653G>C (n.*653G>C) c.949G>C (p.Val317Leu) c.901G>C (p.Val301Leu) n.200G>C c.904G>C (p.Val302Leu) | ClinVar |
| X | g.154533629C>T | CA415235274 | G6PD | c.811G>A (p.Val271Met) c.814G>A (p.Val272Met) c.674G>A c.677G>A c.663G>A (p.Trp221Ter) c.*653G>A (n.*653G>A) c.949G>A (p.Val317Met) c.901G>A (p.Val301Met) n.200G>A c.904G>A (p.Val302Met) | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.154533630C>A | CA519304495 | G6PD | c.810G>T (p.Leu270=) c.813G>T (p.Leu271=) c.673G>T c.676G>T c.662G>T (p.Trp221Leu) c.*652G>T (n.*652G>T) c.948G>T (p.Leu316=) c.900G>T (p.Leu300=) n.199G>T c.903G>T (p.Leu301=) | |
| X | g.154533630C= | CA2466723841 | G6PD | c.810G= (p.Leu270=) c.813G= (p.Leu271=) c.673G= c.676G= c.662G= (p.Trp221=) c.*652G= (n.*652G=) c.948G= (p.Leu316=) c.900G= (p.Leu300=) n.199G= c.903G= (p.Leu301=) | |
| X | g.154533630C>G | CA519304497 | G6PD | c.810G>C (p.Leu270=) c.813G>C (p.Leu271=) c.673G>C c.676G>C c.662G>C (p.Trp221Ser) c.*652G>C (n.*652G>C) c.948G>C (p.Leu316=) c.900G>C (p.Leu300=) n.199G>C c.903G>C (p.Leu301=) | |
| X | g.154533630C>T | CA10566142 | G6PD | c.810G>A (p.Leu270=) c.813G>A (p.Leu271=) c.673G>A c.676G>A c.662G>A (p.Trp221Ter) c.*652G>A (n.*652G>A) c.948G>A (p.Leu316=) c.900G>A (p.Leu300=) n.199G>A c.903G>A (p.Leu301=) | dbSNP ExAC |
| X | g.154533631A>C | CA415235277 | G6PD | c.809T>G (p.Leu270Arg) c.812T>G (p.Leu271Arg) c.672T>G c.675T>G c.661T>G (p.Trp221Gly) c.*651T>G (n.*651T>G) c.947T>G (p.Leu316Arg) c.899T>G (p.Leu300Arg) n.198T>G c.902T>G (p.Leu301Arg) | |
| X | g.154533631A>G | CA415235279 | G6PD | c.809T>C (p.Leu270Pro) c.812T>C (p.Leu271Pro) c.672T>C c.675T>C c.661T>C (p.Trp221Arg) c.*651T>C (n.*651T>C) c.947T>C (p.Leu316Pro) c.899T>C (p.Leu300Pro) n.198T>C c.902T>C (p.Leu301Pro) | |
| X | g.154533631A>T | CA415235280 | G6PD | c.809T>A (p.Leu270Gln) c.812T>A (p.Leu271Gln) c.672T>A c.675T>A c.661T>A (p.Trp221Arg) c.*651T>A (n.*651T>A) c.947T>A (p.Leu316Gln) c.899T>A (p.Leu300Gln) n.198T>A c.902T>A (p.Leu301Gln) | |
| X | g.154533632G>A | CA519304505 | G6PD | c.808C>T (p.Leu270=) c.811C>T (p.Leu271=) c.671C>T c.674C>T c.660C>T (p.Val220=) c.*650C>T (n.*650C>T) c.946C>T (p.Leu316=) c.898C>T (p.Leu300=) n.197C>T c.901C>T (p.Leu301=) | dbSNP |
| X | g.154533632G>C | CA415235281 | G6PD | c.808C>G (p.Leu270Val) c.811C>G (p.Leu271Val) c.671C>G c.674C>G c.660C>G (p.Val220=) c.*650C>G (n.*650C>G) c.946C>G (p.Leu316Val) c.898C>G (p.Leu300Val) n.197C>G c.901C>G (p.Leu301Val) | |
| X | g.154533632G= | CA2466723842 | G6PD | c.808C= (p.Leu270=) c.811C= (p.Leu271=) c.671C= c.674C= c.660C= (p.Val220=) c.*650C= (n.*650C=) c.946C= (p.Leu316=) c.898C= (p.Leu300=) n.197C= c.901C= (p.Leu301=) | |
| X | g.154533632G>T | CA415235283 | G6PD | c.808C>A (p.Leu270Met) c.811C>A (p.Leu271Met) c.671C>A c.674C>A c.660C>A (p.Val220=) c.*650C>A (n.*650C>A) c.946C>A (p.Leu316Met) c.898C>A (p.Leu300Met) n.197C>A c.901C>A (p.Leu301Met) | |
| X | g.154533633A= | CA2466723843 | G6PD | c.807T= (p.Cys269=) c.810T= (p.Cys270=) c.670T= c.673T= c.659T= (p.Val220=) c.*649T= (n.*649T=) c.945T= (p.Cys315=) c.897T= (p.Cys299=) n.196T= c.900T= (p.Cys300=) | |
| X | g.154533633A>C | CA415235285 | G6PD | c.807T>G (p.Cys269Trp) c.810T>G (p.Cys270Trp) c.670T>G c.673T>G c.659T>G (p.Val220Gly) c.*649T>G (n.*649T>G) c.945T>G (p.Cys315Trp) c.897T>G (p.Cys299Trp) n.196T>G c.900T>G (p.Cys300Trp) | |
| X | g.154533633A>G | CA519304510 | G6PD | c.807T>C (p.Cys269=) c.810T>C (p.Cys270=) c.670T>C c.673T>C c.659T>C (p.Val220Ala) c.*649T>C (n.*649T>C) c.945T>C (p.Cys315=) c.897T>C (p.Cys299=) n.196T>C c.900T>C (p.Cys300=) | dbSNP |
| X | g.154533633A>T | CA415235286 | G6PD | c.807T>A (p.Cys269Ter) c.810T>A (p.Cys270Ter) c.670T>A c.673T>A c.659T>A (p.Val220Asp) c.*649T>A (n.*649T>A) c.945T>A (p.Cys315Ter) c.897T>A (p.Cys299Ter) n.196T>A c.900T>A (p.Cys300Ter) | |
| X | g.154533634C>A | CA415235288 | G6PD | c.806G>T (p.Cys269Phe) c.809G>T (p.Cys270Phe) c.669G>T c.672G>T c.658G>T (p.Val220Phe) c.*648G>T (n.*648G>T) c.944G>T (p.Cys315Phe) c.896G>T (p.Cys299Phe) n.195G>T c.899G>T (p.Cys300Phe) | |
| X | g.154533634C= | CA2466723844 | G6PD | c.806G= (p.Cys269=) c.809G= (p.Cys270=) c.669G= c.672G= c.658G= (p.Val220=) c.*648G= (n.*648G=) c.944G= (p.Cys315=) c.896G= (p.Cys299=) n.195G= c.899G= (p.Cys300=) | |
| X | g.154533634C>G | CA415235290 | G6PD | c.806G>C (p.Cys269Ser) c.809G>C (p.Cys270Ser) c.669G>C c.672G>C c.658G>C (p.Val220Leu) c.*648G>C (n.*648G>C) c.944G>C (p.Cys315Ser) c.896G>C (p.Cys299Ser) n.195G>C c.899G>C (p.Cys300Ser) | |
| X | g.154533634C>T | CA121045 | G6PD | c.806G>A (p.Cys269Tyr) c.809G>A (p.Cys270Tyr) c.669G>A c.672G>A c.658G>A (p.Val220Ile) c.*648G>A (n.*648G>A) c.944G>A (p.Cys315Tyr) c.896G>A (p.Cys299Tyr) n.195G>A c.899G>A (p.Cys300Tyr) | ClinVar dbSNP |
| X | g.154533635A>C | CA415235292 | G6PD | c.805T>G (p.Cys269Gly) c.808T>G (p.Cys270Gly) c.668T>G c.671T>G c.657T>G (p.Cys219Trp) c.*647T>G (n.*647T>G) c.943T>G (p.Cys315Gly) c.895T>G (p.Cys299Gly) n.194T>G c.898T>G (p.Cys300Gly) | |
| X | g.154533635A>G | CA415235294 | G6PD | c.805T>C (p.Cys269Arg) c.808T>C (p.Cys270Arg) c.668T>C c.671T>C c.657T>C (p.Cys219=) c.*647T>C (n.*647T>C) c.943T>C (p.Cys315Arg) c.895T>C (p.Cys299Arg) n.194T>C c.898T>C (p.Cys300Arg) | |
| X | g.154533635A>T | CA415235295 | G6PD | c.805T>A (p.Cys269Ser) c.808T>A (p.Cys270Ser) c.668T>A c.671T>A c.657T>A (p.Cys219Ter) c.*647T>A (n.*647T>A) c.943T>A (p.Cys315Ser) c.895T>A (p.Cys299Ser) n.194T>A c.898T>A (p.Cys300Ser) | |
| X | g.154533636C>A | CA519304523 | G6PD | c.804G>T (p.Leu268=) c.807G>T (p.Leu269=) c.667G>T c.670G>T c.656G>T (p.Cys219Phe) c.*646G>T (n.*646G>T) c.942G>T (p.Leu314=) c.894G>T (p.Leu298=) n.193G>T c.897G>T (p.Leu299=) | dbSNP |
| X | g.154533636C= | CA2466723845 | G6PD | c.804G= (p.Leu268=) c.807G= (p.Leu269=) c.667G= c.670G= c.656G= (p.Cys219=) c.*646G= (n.*646G=) c.942G= (p.Leu314=) c.894G= (p.Leu298=) n.193G= c.897G= (p.Leu299=) | |
| X | g.154533636C>G | CA519304527 | G6PD | c.804G>C (p.Leu268=) c.807G>C (p.Leu269=) c.667G>C c.670G>C c.656G>C (p.Cys219Ser) c.*646G>C (n.*646G>C) c.942G>C (p.Leu314=) c.894G>C (p.Leu298=) n.193G>C c.897G>C (p.Leu299=) | |
| X | g.154533636C>T | CA519304525 | G6PD | c.804G>A (p.Leu268=) c.807G>A (p.Leu269=) c.667G>A c.670G>A c.656G>A (p.Cys219Tyr) c.*646G>A (n.*646G>A) c.942G>A (p.Leu314=) c.894G>A (p.Leu298=) n.193G>A c.897G>A (p.Leu299=) | ClinVar dbSNP gnomAD v4 |
| X | g.154533637A>C | CA415235301 | G6PD | c.803T>G (p.Leu268Arg) c.806T>G (p.Leu269Arg) c.666T>G c.669T>G c.655T>G (p.Cys219Gly) c.*645T>G (n.*645T>G) c.941T>G (p.Leu314Arg) c.893T>G (p.Leu298Arg) n.192T>G c.896T>G (p.Leu299Arg) | |
| X | g.154533637A>G | CA415235299 | G6PD | c.803T>C (p.Leu268Pro) c.806T>C (p.Leu269Pro) c.666T>C c.669T>C c.655T>C (p.Cys219Arg) c.*645T>C (n.*645T>C) c.941T>C (p.Leu314Pro) c.893T>C (p.Leu298Pro) n.192T>C c.896T>C (p.Leu299Pro) | |
| X | g.154533637A>T | CA415235297 | G6PD | c.803T>A (p.Leu268Gln) c.806T>A (p.Leu269Gln) c.666T>A c.669T>A c.655T>A (p.Cys219Ser) c.*645T>A (n.*645T>A) c.941T>A (p.Leu314Gln) c.893T>A (p.Leu298Gln) n.192T>A c.896T>A (p.Leu299Gln) | |
| X | g.154533638G>A | CA519304535 | G6PD | c.802C>T (p.Leu268=) c.805C>T (p.Leu269=) c.665C>T c.668C>T c.654C>T (p.Cys218=) c.*644C>T (n.*644C>T) c.940C>T (p.Leu314=) c.892C>T (p.Leu298=) n.191C>T c.895C>T (p.Leu299=) | dbSNP |
| X | g.154533638G>C | CA415235303 | G6PD | c.802C>G (p.Leu268Val) c.805C>G (p.Leu269Val) c.665C>G c.668C>G c.654C>G (p.Cys218Trp) c.*644C>G (n.*644C>G) c.940C>G (p.Leu314Val) c.892C>G (p.Leu298Val) n.191C>G c.895C>G (p.Leu299Val) | |
| X | g.154533638G= | CA2466723846 | G6PD | c.802C= (p.Leu268=) c.805C= (p.Leu269=) c.665C= c.668C= c.654C= (p.Cys218=) c.*644C= (n.*644C=) c.940C= (p.Leu314=) c.892C= (p.Leu298=) n.191C= c.895C= (p.Leu299=) | |
| X | g.154533638G>T | CA415235305 | G6PD | c.802C>A (p.Leu268Met) c.805C>A (p.Leu269Met) c.665C>A c.668C>A c.654C>A (p.Cys218Ter) c.*644C>A (n.*644C>A) c.940C>A (p.Leu314Met) c.892C>A (p.Leu298Met) n.191C>A c.895C>A (p.Leu299Met) | |
| X | g.154533639C>A | CA415235307 | G6PD | c.801G>T (p.Met267Ile) c.804G>T (p.Met268Ile) c.664G>T c.667G>T c.653G>T (p.Cys218Phe) c.*643G>T (n.*643G>T) c.939G>T (p.Met313Ile) c.891G>T (p.Met297Ile) n.190G>T c.894G>T (p.Met298Ile) | |
| X | g.154533639C>G | CA415235309 | G6PD | c.801G>C (p.Met267Ile) c.804G>C (p.Met268Ile) c.664G>C c.667G>C c.653G>C (p.Cys218Ser) c.*643G>C (n.*643G>C) c.939G>C (p.Met313Ile) c.891G>C (p.Met297Ile) n.190G>C c.894G>C (p.Met298Ile) | |
| X | g.154533639C>T | CA415235311 | G6PD | c.801G>A (p.Met267Ile) c.804G>A (p.Met268Ile) c.664G>A c.667G>A c.653G>A (p.Cys218Tyr) c.*643G>A (n.*643G>A) c.939G>A (p.Met313Ile) c.891G>A (p.Met297Ile) n.190G>A c.894G>A (p.Met298Ile) | |
| X | g.154533640A>C | CA415235313 | G6PD | c.800T>G (p.Met267Arg) c.803T>G (p.Met268Arg) c.663T>G c.666T>G c.652T>G (p.Cys218Gly) c.*642T>G (n.*642T>G) c.938T>G (p.Met313Arg) c.890T>G (p.Met297Arg) n.189T>G c.893T>G (p.Met298Arg) | |
| X | g.154533640A>G | CA415235315 | G6PD | c.800T>C (p.Met267Thr) c.803T>C (p.Met268Thr) c.663T>C c.666T>C c.652T>C (p.Cys218Arg) c.*642T>C (n.*642T>C) c.938T>C (p.Met313Thr) c.890T>C (p.Met297Thr) n.189T>C c.893T>C (p.Met298Thr) | |
| X | g.154533640A>T | CA415235317 | G6PD | c.800T>A (p.Met267Lys) c.803T>A (p.Met268Lys) c.663T>A c.666T>A c.652T>A (p.Cys218Ser) c.*642T>A (n.*642T>A) c.938T>A (p.Met313Lys) c.890T>A (p.Met297Lys) n.189T>A c.893T>A (p.Met298Lys) | |
| X | g.154533641T>A | CA415235319 | G6PD | c.799A>T (p.Met267Leu) c.802A>T (p.Met268Leu) c.662A>T c.665A>T c.651A>T (p.Arg217=) c.*641A>T (n.*641A>T) c.937A>T (p.Met313Leu) c.889A>T (p.Met297Leu) n.188A>T c.892A>T (p.Met298Leu) | dbSNP |
| X | g.154533641T>C | CA415235321 | G6PD | c.799A>G (p.Met267Val) c.802A>G (p.Met268Val) c.662A>G c.665A>G c.651A>G (p.Arg217=) c.*641A>G (n.*641A>G) c.937A>G (p.Met313Val) c.889A>G (p.Met297Val) n.188A>G c.892A>G (p.Met298Val) | |
| X | g.154533641T>G | CA415235323 | G6PD | c.799A>C (p.Met267Leu) c.802A>C (p.Met268Leu) c.662A>C c.665A>C c.651A>C (p.Arg217=) c.*641A>C (n.*641A>C) c.937A>C (p.Met313Leu) c.889A>C (p.Met297Leu) n.188A>C c.892A>C (p.Met298Leu) | dbSNP |
| X | g.154533641T= | CA2466723847 | G6PD | c.799A= (p.Met267=) c.802A= (p.Met268=) c.662A= c.665A= c.651A= (p.Arg217=) c.*641A= (n.*641A=) c.937A= (p.Met313=) c.889A= (p.Met297=) n.188A= c.892A= (p.Met298=) | |
| X | g.154533642C>A | CA415235325 | G6PD | c.798G>T (p.Gln266His) c.801G>T (p.Gln267His) c.661G>T c.664G>T c.651-1G>T (n.651-1G>T) c.*640G>T (n.*640G>T) c.936G>T (p.Gln312His) c.888G>T (p.Gln296His) n.187G>T c.891G>T (p.Gln297His) | |
| X | g.154533642C= | CA2466723848 | G6PD | c.798G= (p.Gln266=) c.801G= (p.Gln267=) c.661G= c.664G= c.651-1G= (n.651-1G=) c.*640G= (n.*640G=) c.936G= (p.Gln312=) c.888G= (p.Gln296=) n.187G= c.891G= (p.Gln297=) | |
| X | g.154533642C>G | CA415235326 | G6PD | c.798G>C (p.Gln266His) c.801G>C (p.Gln267His) c.661G>C c.664G>C c.651-1G>C (n.651-1G>C) c.*640G>C (n.*640G>C) c.936G>C (p.Gln312His) c.888G>C (p.Gln296His) n.187G>C c.891G>C (p.Gln297His) | |
| X | g.154533642C>T | CA519304554 | G6PD | c.798G>A (p.Gln266=) c.801G>A (p.Gln267=) c.661G>A c.664G>A c.651-1G>A (n.651-1G>A) c.*640G>A (n.*640G>A) c.936G>A (p.Gln312=) c.888G>A (p.Gln296=) n.187G>A c.891G>A (p.Gln297=) | dbSNP |
| X | g.154533643T>A | CA415235332 | G6PD | c.797A>T (p.Gln266Leu) c.800A>T (p.Gln267Leu) c.660A>T c.663A>T c.651-2A>T (n.651-2A>T) c.*639A>T (n.*639A>T) c.935A>T (p.Gln312Leu) c.887A>T (p.Gln296Leu) n.186A>T c.890A>T (p.Gln297Leu) | |
| X | g.154533643T>C | CA415235330 | G6PD | c.797A>G (p.Gln266Arg) c.800A>G (p.Gln267Arg) c.660A>G c.663A>G c.651-2A>G (n.651-2A>G) c.*639A>G (n.*639A>G) c.935A>G (p.Gln312Arg) c.887A>G (p.Gln296Arg) n.186A>G c.890A>G (p.Gln297Arg) | |
| X | g.154533643T>G | CA415235328 | G6PD | c.797A>C (p.Gln266Pro) c.800A>C (p.Gln267Pro) c.660A>C c.663A>C c.651-2A>C (n.651-2A>C) c.*639A>C (n.*639A>C) c.935A>C (p.Gln312Pro) c.887A>C (p.Gln296Pro) n.186A>C c.890A>C (p.Gln297Pro) | |
| X | g.154533644G>A | CA415235334 | G6PD | c.796C>T (p.Gln266Ter) c.799C>T (p.Gln267Ter) c.659C>T c.662C>T c.651-3C>T (n.651-3C>T) c.*638C>T (n.*638C>T) c.934C>T (p.Gln312Ter) c.886C>T (p.Gln296Ter) n.185C>T c.889C>T (p.Gln297Ter) | |
| X | g.154533644G>C | CA415235335 | G6PD | c.796C>G (p.Gln266Glu) c.799C>G (p.Gln267Glu) c.659C>G c.662C>G c.651-3C>G (n.651-3C>G) c.*638C>G (n.*638C>G) c.934C>G (p.Gln312Glu) c.886C>G (p.Gln296Glu) n.185C>G c.889C>G (p.Gln297Glu) | |
| X | g.154533644G>T | CA415235337 | G6PD | c.796C>A (p.Gln266Lys) c.799C>A (p.Gln267Lys) c.659C>A c.662C>A c.651-3C>A (n.651-3C>A) c.*638C>A (n.*638C>A) c.934C>A (p.Gln312Lys) c.886C>A (p.Gln296Lys) n.185C>A c.889C>A (p.Gln297Lys) | |
| X | g.154533645C>A | CA519304569 | G6PD | c.795G>T (p.Leu265=) c.798G>T (p.Leu266=) c.658G>T c.661G>T c.651-4G>T (n.651-4G>T) c.*637G>T (n.*637G>T) c.933G>T (p.Leu311=) c.885G>T (p.Leu295=) n.184G>T c.888G>T (p.Leu296=) | |
| X | g.154533645C= | CA2466723849 | G6PD | c.795G= (p.Leu265=) c.798G= (p.Leu266=) c.658G= c.661G= c.651-4G= (n.651-4G=) c.*637G= (n.*637G=) c.933G= (p.Leu311=) c.885G= (p.Leu295=) n.184G= c.888G= (p.Leu296=) | |
| X | g.154533645C>G | CA519304567 | G6PD | c.795G>C (p.Leu265=) c.798G>C (p.Leu266=) c.658G>C c.661G>C c.651-4G>C (n.651-4G>C) c.*637G>C (n.*637G>C) c.933G>C (p.Leu311=) c.885G>C (p.Leu295=) n.184G>C c.888G>C (p.Leu296=) | |
| X | g.154533645C>T | CA10566143 | G6PD | c.795G>A (p.Leu265=) c.798G>A (p.Leu266=) c.658G>A c.661G>A c.651-4G>A (n.651-4G>A) c.*637G>A (n.*637G>A) c.933G>A (p.Leu311=) c.885G>A (p.Leu295=) n.184G>A c.888G>A (p.Leu296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154533646A>C | CA415235340 | G6PD | c.794T>G (p.Leu265Arg) c.797T>G (p.Leu266Arg) c.657T>G c.660T>G c.651-5T>G (n.651-5T>G) c.*636T>G (n.*636T>G) c.932T>G (p.Leu311Arg) c.884T>G (p.Leu295Arg) n.183T>G c.887T>G (p.Leu296Arg) | |
| X | g.154533646A>G | CA415235342 | G6PD | c.794T>C (p.Leu265Pro) c.797T>C (p.Leu266Pro) c.657T>C c.660T>C c.651-5T>C (n.651-5T>C) c.*636T>C (n.*636T>C) c.932T>C (p.Leu311Pro) c.884T>C (p.Leu295Pro) n.183T>C c.887T>C (p.Leu296Pro) | |
| X | g.154533646A>T | CA415235343 | G6PD | c.794T>A (p.Leu265Gln) c.797T>A (p.Leu266Gln) c.657T>A c.660T>A c.651-5T>A (n.651-5T>A) c.*636T>A (n.*636T>A) c.932T>A (p.Leu311Gln) c.884T>A (p.Leu295Gln) n.183T>A c.887T>A (p.Leu296Gln) | |
| X | g.154533647G>A | CA519304575 | G6PD | c.793C>T (p.Leu265=) c.796C>T (p.Leu266=) c.656C>T c.659C>T c.651-6C>T (n.651-6C>T) c.*635C>T (n.*635C>T) c.931C>T (p.Leu311=) c.883C>T (p.Leu295=) n.182C>T c.886C>T (p.Leu296=) | |
| X | g.154533647G>C | CA415235345 | G6PD | c.793C>G (p.Leu265Val) c.796C>G (p.Leu266Val) c.656C>G c.659C>G c.651-6C>G (n.651-6C>G) c.*635C>G (n.*635C>G) c.931C>G (p.Leu311Val) c.883C>G (p.Leu295Val) n.182C>G c.886C>G (p.Leu296Val) | |
| X | g.154533647G>T | CA415235347 | G6PD | c.793C>A (p.Leu265Met) c.796C>A (p.Leu266Met) c.656C>A c.659C>A c.651-6C>A (n.651-6C>A) c.*635C>A (n.*635C>A) c.931C>A (p.Leu311Met) c.883C>A (p.Leu295Met) n.182C>A c.886C>A (p.Leu296Met) | |
| X | g.154533648T>A | CA519304580 | G6PD | c.792A>T (p.Leu264=) c.795A>T (p.Leu265=) c.655A>T c.658A>T c.651-7A>T (n.651-7A>T) c.*634A>T (n.*634A>T) c.930A>T (p.Leu310=) c.882A>T (p.Leu294=) n.181A>T c.885A>T (p.Leu295=) | |
| X | g.154533648T>C | CA519304582 | G6PD | c.792A>G (p.Leu264=) c.795A>G (p.Leu265=) c.655A>G c.658A>G c.651-7A>G (n.651-7A>G) c.*634A>G (n.*634A>G) c.930A>G (p.Leu310=) c.882A>G (p.Leu294=) n.181A>G c.885A>G (p.Leu295=) | dbSNP |
| X | g.154533648T>G | CA519304583 | G6PD | c.792A>C (p.Leu264=) c.795A>C (p.Leu265=) c.655A>C c.658A>C c.651-7A>C (n.651-7A>C) c.*634A>C (n.*634A>C) c.930A>C (p.Leu310=) c.882A>C (p.Leu294=) n.181A>C c.885A>C (p.Leu295=) | |
| X | g.154533648T= | CA2466723850 | G6PD | c.792A= (p.Leu264=) c.795A= (p.Leu265=) c.655A= c.658A= c.651-7A= (n.651-7A=) c.*634A= (n.*634A=) c.930A= (p.Leu310=) c.882A= (p.Leu294=) n.181A= c.885A= (p.Leu295=) | |
| X | g.154533649A>C | CA415235349 | G6PD | c.791T>G (p.Leu264Arg) c.794T>G (p.Leu265Arg) c.654T>G c.657T>G c.651-8T>G (n.651-8T>G) c.*633T>G (n.*633T>G) c.929T>G (p.Leu310Arg) c.881T>G (p.Leu294Arg) n.180T>G c.884T>G (p.Leu295Arg) | |
| X | g.154533649A>G | CA415235351 | G6PD | c.791T>C (p.Leu264Pro) c.794T>C (p.Leu265Pro) c.654T>C c.657T>C c.651-8T>C (n.651-8T>C) c.*633T>C (n.*633T>C) c.929T>C (p.Leu310Pro) c.881T>C (p.Leu294Pro) n.180T>C c.884T>C (p.Leu295Pro) | |
| X | g.154533649A>T | CA415235352 | G6PD | c.791T>A (p.Leu264Gln) c.794T>A (p.Leu265Gln) c.654T>A c.657T>A c.651-8T>A (n.651-8T>A) c.*633T>A (n.*633T>A) c.929T>A (p.Leu310Gln) c.881T>A (p.Leu294Gln) n.180T>A c.884T>A (p.Leu295Gln) | |
| X | g.154533650G>A | CA519304593 | G6PD | c.790C>T (p.Leu264=) c.793C>T (p.Leu265=) c.653C>T c.656C>T c.651-9C>T (n.651-9C>T) c.*632C>T (n.*632C>T) c.928C>T (p.Leu310=) c.880C>T (p.Leu294=) n.179C>T c.883C>T (p.Leu295=) | dbSNP |
| X | g.154533650G>C | CA415235356 | G6PD | c.790C>G (p.Leu264Val) c.793C>G (p.Leu265Val) c.653C>G c.656C>G c.651-9C>G (n.651-9C>G) c.*632C>G (n.*632C>G) c.928C>G (p.Leu310Val) c.880C>G (p.Leu294Val) n.179C>G c.883C>G (p.Leu295Val) | |
| X | g.154533650G= | CA2466723851 | G6PD | c.790C= (p.Leu264=) c.793C= (p.Leu265=) c.653C= c.656C= c.651-9C= (n.651-9C=) c.*632C= (n.*632C=) c.928C= (p.Leu310=) c.880C= (p.Leu294=) n.179C= c.883C= (p.Leu295=) | |
| X | g.154533650G>T | CA415235354 | G6PD | c.790C>A (p.Leu264Ile) c.793C>A (p.Leu265Ile) c.653C>A c.656C>A c.651-9C>A (n.651-9C>A) c.*632C>A (n.*632C>A) c.928C>A (p.Leu310Ile) c.880C>A (p.Leu294Ile) n.179C>A c.883C>A (p.Leu295Ile) | |
| X | g.154533651G>A | CA519304596 | G6PD | c.789C>T (p.His263=) c.792C>T (p.His264=) c.652C>T c.655C>T c.651-10C>T (n.651-10C>T) c.*631C>T (n.*631C>T) c.927C>T (p.His309=) c.879C>T (p.His293=) n.178C>T c.882C>T (p.His294=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154533651G>C | CA415235358 | G6PD | c.789C>G (p.His263Gln) c.792C>G (p.His264Gln) c.652C>G c.655C>G c.651-10C>G (n.651-10C>G) c.*631C>G (n.*631C>G) c.927C>G (p.His309Gln) c.879C>G (p.His293Gln) n.178C>G c.882C>G (p.His294Gln) | |
| X | g.154533651G= | CA2466723852 | G6PD | c.789C= (p.His263=) c.792C= (p.His264=) c.652C= c.655C= c.651-10C= (n.651-10C=) c.*631C= (n.*631C=) c.927C= (p.His309=) c.879C= (p.His293=) n.178C= c.882C= (p.His294=) | |
| X | g.154533651G>T | CA415235359 | G6PD | c.789C>A (p.His263Gln) c.792C>A (p.His264Gln) c.652C>A c.655C>A c.651-10C>A (n.651-10C>A) c.*631C>A (n.*631C>A) c.927C>A (p.His309Gln) c.879C>A (p.His293Gln) n.178C>A c.882C>A (p.His294Gln) | |
| X | g.154533652T>A | CA415235360 | G6PD | c.788A>T (p.His263Leu) c.791A>T (p.His264Leu) c.651A>T c.654A>T c.651-11A>T (n.651-11A>T) c.*630A>T (n.*630A>T) c.926A>T (p.His309Leu) c.878A>T (p.His293Leu) n.177A>T c.881A>T (p.His294Leu) | |
| X | g.154533652T>C | CA415235362 | G6PD | c.788A>G (p.His263Arg) c.791A>G (p.His264Arg) c.651A>G c.654A>G c.651-11A>G (n.651-11A>G) c.*630A>G (n.*630A>G) c.926A>G (p.His309Arg) c.878A>G (p.His293Arg) n.177A>G c.881A>G (p.His294Arg) | |
| X | g.154533652T>G | CA415235364 | G6PD | c.788A>C (p.His263Pro) c.791A>C (p.His264Pro) c.651A>C c.654A>C c.651-11A>C (n.651-11A>C) c.*630A>C (n.*630A>C) c.926A>C (p.His309Pro) c.878A>C (p.His293Pro) n.177A>C c.881A>C (p.His294Pro) | |
| X | g.154533653G>A | CA415235365 | G6PD | c.787C>T (p.His263Tyr) c.790C>T (p.His264Tyr) c.650C>T c.653C>T c.651-12C>T (n.651-12C>T) c.*629C>T (n.*629C>T) c.925C>T (p.His309Tyr) c.877C>T (p.His293Tyr) n.176C>T c.880C>T (p.His294Tyr) | |
| X | g.154533653G>C | CA415235366 | G6PD | c.787C>G (p.His263Asp) c.790C>G (p.His264Asp) c.650C>G c.653C>G c.651-12C>G (n.651-12C>G) c.*629C>G (n.*629C>G) c.925C>G (p.His309Asp) c.877C>G (p.His293Asp) n.176C>G c.880C>G (p.His294Asp) | |
| X | g.154533653G>T | CA415235368 | G6PD | c.787C>A (p.His263Asn) c.790C>A (p.His264Asn) c.650C>A c.653C>A c.651-12C>A (n.651-12C>A) c.*629C>A (n.*629C>A) c.925C>A (p.His309Asn) c.877C>A (p.His293Asn) n.176C>A c.880C>A (p.His294Asn) | |
| X | g.154533654G>A | CA519304608 | G6PD | c.786C>T (p.Asn262=) c.789C>T (p.Asn263=) c.649C>T c.652C>T c.651-13C>T (n.651-13C>T) c.*628C>T (n.*628C>T) c.924C>T (p.Asn308=) c.876C>T (p.Asn292=) n.175C>T c.879C>T (p.Asn293=) | ClinVar dbSNP gnomAD v4 |
| X | g.154533654G>C | CA415235370 | G6PD | c.786C>G (p.Asn262Lys) c.789C>G (p.Asn263Lys) c.649C>G c.652C>G c.651-13C>G (n.651-13C>G) c.*628C>G (n.*628C>G) c.924C>G (p.Asn308Lys) c.876C>G (p.Asn292Lys) n.175C>G c.879C>G (p.Asn293Lys) | |
| X | g.154533654G= | CA2466723853 | G6PD | c.786C= (p.Asn262=) c.789C= (p.Asn263=) c.649C= c.652C= c.651-13C= (n.651-13C=) c.*628C= (n.*628C=) c.924C= (p.Asn308=) c.876C= (p.Asn292=) n.175C= c.879C= (p.Asn293=) | |
| X | g.154533654G>T | CA415235373 | G6PD | c.786C>A (p.Asn262Lys) c.789C>A (p.Asn263Lys) c.649C>A c.652C>A c.651-13C>A (n.651-13C>A) c.*628C>A (n.*628C>A) c.924C>A (p.Asn308Lys) c.876C>A (p.Asn292Lys) n.175C>A c.879C>A (p.Asn293Lys) | |
| X | g.154533655T>A | CA415235375 | G6PD | c.785A>T (p.Asn262Ile) c.788A>T (p.Asn263Ile) c.648A>T c.651A>T c.651-14A>T (n.651-14A>T) c.*627A>T (n.*627A>T) c.923A>T (p.Asn308Ile) c.875A>T (p.Asn292Ile) n.174A>T c.878A>T (p.Asn293Ile) | |
| X | g.154533655T>C | CA415235376 | G6PD | c.785A>G (p.Asn262Ser) c.788A>G (p.Asn263Ser) c.648A>G c.651A>G c.651-14A>G (n.651-14A>G) c.*627A>G (n.*627A>G) c.923A>G (p.Asn308Ser) c.875A>G (p.Asn292Ser) n.174A>G c.878A>G (p.Asn293Ser) | |
| X | g.154533655T>G | CA415235377 | G6PD | c.785A>C (p.Asn262Thr) c.788A>C (p.Asn263Thr) c.648A>C c.651A>C c.651-14A>C (n.651-14A>C) c.*627A>C (n.*627A>C) c.923A>C (p.Asn308Thr) c.875A>C (p.Asn292Thr) n.174A>C c.878A>C (p.Asn293Thr) | |
| X | g.154533656T>A | CA415235383 | G6PD | c.784A>T (p.Asn262Tyr) c.787A>T (p.Asn263Tyr) c.647A>T c.650A>T c.651-15A>T (n.651-15A>T) c.*626A>T (n.*626A>T) c.922A>T (p.Asn308Tyr) c.874A>T (p.Asn292Tyr) n.173A>T c.877A>T (p.Asn293Tyr) | |
| X | g.154533656T>C | CA415235380 | G6PD | c.784A>G (p.Asn262Asp) c.787A>G (p.Asn263Asp) c.647A>G c.650A>G c.651-15A>G (n.651-15A>G) c.*626A>G (n.*626A>G) c.922A>G (p.Asn308Asp) c.874A>G (p.Asn292Asp) n.173A>G c.877A>G (p.Asn293Asp) | |
| X | g.154533656T>G | CA415235381 | G6PD | c.784A>C (p.Asn262His) c.787A>C (p.Asn263His) c.647A>C c.650A>C c.651-15A>C (n.651-15A>C) c.*626A>C (n.*626A>C) c.922A>C (p.Asn308His) c.874A>C (p.Asn292His) n.173A>C c.877A>C (p.Asn293His) | |
| X | g.154533657C>A | CA415235385 | G6PD | c.783G>T (p.Gln261His) c.786G>T (p.Gln262His) c.646G>T c.649G>T c.651-16G>T (n.651-16G>T) c.*625G>T (n.*625G>T) c.921G>T (p.Gln307His) c.873G>T (p.Gln291His) n.172G>T c.876G>T (p.Gln292His) | |
| X | g.154533657C>G | CA415235386 | G6PD | c.783G>C (p.Gln261His) c.786G>C (p.Gln262His) c.646G>C c.649G>C c.651-16G>C (n.651-16G>C) c.*625G>C (n.*625G>C) c.921G>C (p.Gln307His) c.873G>C (p.Gln291His) n.172G>C c.876G>C (p.Gln292His) | |
| X | g.154533657C>T | CA519304623 | G6PD | c.783G>A (p.Gln261=) c.786G>A (p.Gln262=) c.646G>A c.649G>A c.651-16G>A (n.651-16G>A) c.*625G>A (n.*625G>A) c.921G>A (p.Gln307=) c.873G>A (p.Gln291=) n.172G>A c.876G>A (p.Gln292=) | |
| X | g.154533658T>A | CA415235387 | G6PD | c.782A>T (p.Gln261Leu) c.785A>T (p.Gln262Leu) c.645A>T c.648A>T c.651-17A>T (n.651-17A>T) c.*624A>T (n.*624A>T) c.920A>T (p.Gln307Leu) c.872A>T (p.Gln291Leu) n.171A>T c.875A>T (p.Gln292Leu) | |
| X | g.154533658T>C | CA415235388 | G6PD | c.782A>G (p.Gln261Arg) c.785A>G (p.Gln262Arg) c.645A>G c.648A>G c.651-17A>G (n.651-17A>G) c.*624A>G (n.*624A>G) c.920A>G (p.Gln307Arg) c.872A>G (p.Gln291Arg) n.171A>G c.875A>G (p.Gln292Arg) | |
| X | g.154533658T>G | CA415235390 | G6PD | c.782A>C (p.Gln261Pro) c.785A>C (p.Gln262Pro) c.645A>C c.648A>C c.651-17A>C (n.651-17A>C) c.*624A>C (n.*624A>C) c.920A>C (p.Gln307Pro) c.872A>C (p.Gln291Pro) n.171A>C c.875A>C (p.Gln292Pro) | |
| X | g.154533659G>A | CA415235391 | G6PD | c.781C>T (p.Gln261Ter) c.784C>T (p.Gln262Ter) c.644C>T c.647C>T c.651-18C>T (n.651-18C>T) c.*623C>T (n.*623C>T) c.919C>T (p.Gln307Ter) c.871C>T (p.Gln291Ter) n.170C>T c.874C>T (p.Gln292Ter) | |
| X | g.154533659G>C | CA415235393 | G6PD | c.781C>G (p.Gln261Glu) c.784C>G (p.Gln262Glu) c.644C>G c.647C>G c.651-18C>G (n.651-18C>G) c.*623C>G (n.*623C>G) c.919C>G (p.Gln307Glu) c.871C>G (p.Gln291Glu) n.170C>G c.874C>G (p.Gln292Glu) | |
| X | g.154533659G>T | CA415235395 | G6PD | c.781C>A (p.Gln261Lys) c.784C>A (p.Gln262Lys) c.644C>A c.647C>A c.651-18C>A (n.651-18C>A) c.*623C>A (n.*623C>A) c.919C>A (p.Gln307Lys) c.871C>A (p.Gln291Lys) n.170C>A c.874C>A (p.Gln292Lys) | |
| X | g.154533660C>A | CA415235397 | G6PD | c.780G>T (p.Met260Ile) c.783G>T (p.Met261Ile) c.643G>T c.646G>T c.651-19G>T (n.651-19G>T) c.*622G>T (n.*622G>T) c.918G>T (p.Met306Ile) c.870G>T (p.Met290Ile) n.169G>T c.873G>T (p.Met291Ile) | |
| X | g.154533660C>G | CA415235399 | G6PD | c.780G>C (p.Met260Ile) c.783G>C (p.Met261Ile) c.643G>C c.646G>C c.651-19G>C (n.651-19G>C) c.*622G>C (n.*622G>C) c.918G>C (p.Met306Ile) c.870G>C (p.Met290Ile) n.169G>C c.873G>C (p.Met291Ile) | |
| X | g.154533660C>T | CA415235402 | G6PD | c.780G>A (p.Met260Ile) c.783G>A (p.Met261Ile) c.643G>A c.646G>A c.651-19G>A (n.651-19G>A) c.*622G>A (n.*622G>A) c.918G>A (p.Met306Ile) c.870G>A (p.Met290Ile) n.169G>A c.873G>A (p.Met291Ile) | |
| X | g.154533661A>C | CA415235405 | G6PD | c.779T>G (p.Met260Arg) c.782T>G (p.Met261Arg) c.642T>G c.645T>G c.651-20T>G (n.651-20T>G) c.*621T>G (n.*621T>G) c.917T>G (p.Met306Arg) c.869T>G (p.Met290Arg) n.168T>G c.872T>G (p.Met291Arg) | |
| X | g.154533661A>G | CA415235409 | G6PD | c.779T>C (p.Met260Thr) c.782T>C (p.Met261Thr) c.642T>C c.645T>C c.651-20T>C (n.651-20T>C) c.*621T>C (n.*621T>C) c.917T>C (p.Met306Thr) c.869T>C (p.Met290Thr) n.168T>C c.872T>C (p.Met291Thr) | |
| X | g.154533661A>T | CA415235407 | G6PD | c.779T>A (p.Met260Lys) c.782T>A (p.Met261Lys) c.642T>A c.645T>A c.651-20T>A (n.651-20T>A) c.*621T>A (n.*621T>A) c.917T>A (p.Met306Lys) c.869T>A (p.Met290Lys) n.168T>A c.872T>A (p.Met291Lys) | |
| X | g.154533662T>A | CA415235411 | G6PD | c.778A>T (p.Met260Leu) c.781A>T (p.Met261Leu) c.641A>T c.644A>T c.651-21A>T (n.651-21A>T) c.*620A>T (n.*620A>T) c.916A>T (p.Met306Leu) c.868A>T (p.Met290Leu) n.167A>T c.871A>T (p.Met291Leu) | |
| X | g.154533662T>C | CA415235415 | G6PD | c.778A>G (p.Met260Val) c.781A>G (p.Met261Val) c.641A>G c.644A>G c.651-21A>G (n.651-21A>G) c.*620A>G (n.*620A>G) c.916A>G (p.Met306Val) c.868A>G (p.Met290Val) n.167A>G c.871A>G (p.Met291Val) | gnomAD v4 |
| X | g.154533662T>G | CA415235413 | G6PD | c.778A>C (p.Met260Leu) c.781A>C (p.Met261Leu) c.641A>C c.644A>C c.651-21A>C (n.651-21A>C) c.*620A>C (n.*620A>C) c.916A>C (p.Met306Leu) c.868A>C (p.Met290Leu) n.167A>C c.871A>C (p.Met291Leu) | dbSNP |
| X | g.154533662T= | CA2466723854 | G6PD | c.778A= (p.Met260=) c.781A= (p.Met261=) c.641A= c.644A= c.651-21A= (n.651-21A=) c.*620A= (n.*620A=) c.916A= (p.Met306=) c.868A= (p.Met290=) n.167A= c.871A= (p.Met291=) | |
| X | g.154533663C>A | CA519304644 | G6PD | c.777G>T (p.Val259=) c.780G>T (p.Val260=) c.640G>T c.643G>T c.651-22G>T (n.651-22G>T) c.*619G>T (n.*619G>T) c.915G>T (p.Val305=) c.867G>T (p.Val289=) n.166G>T c.870G>T (p.Val290=) | |
| X | g.154533663C>G | CA519304646 | G6PD | c.777G>C (p.Val259=) c.780G>C (p.Val260=) c.640G>C c.643G>C c.651-22G>C (n.651-22G>C) c.*619G>C (n.*619G>C) c.915G>C (p.Val305=) c.867G>C (p.Val289=) n.166G>C c.870G>C (p.Val290=) | COSMIC COSMIC COSMIC |
| X | g.154533663C>T | CA519304648 | G6PD | c.777G>A (p.Val259=) c.780G>A (p.Val260=) c.640G>A c.643G>A c.651-22G>A (n.651-22G>A) c.*619G>A (n.*619G>A) c.915G>A (p.Val305=) c.867G>A (p.Val289=) n.166G>A c.870G>A (p.Val290=) | gnomAD v4 |
| X | g.154533664A>C | CA415235417 | G6PD | c.776T>G (p.Val259Gly) c.779T>G (p.Val260Gly) c.639T>G c.642T>G c.651-23T>G (n.651-23T>G) c.*618T>G (n.*618T>G) c.914T>G (p.Val305Gly) c.866T>G (p.Val289Gly) n.165T>G c.869T>G (p.Val290Gly) | |
| X | g.154533664A>G | CA415235418 | G6PD | c.776T>C (p.Val259Ala) c.779T>C (p.Val260Ala) c.639T>C c.642T>C c.651-23T>C (n.651-23T>C) c.*618T>C (n.*618T>C) c.914T>C (p.Val305Ala) c.866T>C (p.Val289Ala) n.165T>C c.869T>C (p.Val290Ala) | |
| X | g.154533664A>T | CA415235421 | G6PD | c.776T>A (p.Val259Glu) c.779T>A (p.Val260Glu) c.639T>A c.642T>A c.651-23T>A (n.651-23T>A) c.*618T>A (n.*618T>A) c.914T>A (p.Val305Glu) c.866T>A (p.Val289Glu) n.165T>A c.869T>A (p.Val290Glu) | |
| X | g.154533665C>A | CA415235423 | G6PD | c.775G>T (p.Val259Leu) c.778G>T (p.Val260Leu) c.638G>T c.641G>T c.651-24G>T (n.651-24G>T) c.*617G>T (n.*617G>T) c.913G>T (p.Val305Leu) c.865G>T (p.Val289Leu) n.164G>T c.868G>T (p.Val290Leu) | |
| X | g.154533665C= | CA2466723855 | G6PD | c.775G= (p.Val259=) c.778G= (p.Val260=) c.638G= c.641G= c.651-24G= (n.651-24G=) c.*617G= (n.*617G=) c.913G= (p.Val305=) c.865G= (p.Val289=) n.164G= c.868G= (p.Val290=) | |
| X | g.154533665C>G | CA415235426 | G6PD | c.775G>C (p.Val259Leu) c.778G>C (p.Val260Leu) c.638G>C c.641G>C c.651-24G>C (n.651-24G>C) c.*617G>C (n.*617G>C) c.913G>C (p.Val305Leu) c.865G>C (p.Val289Leu) n.164G>C c.868G>C (p.Val290Leu) | |
| X | g.154533665C>T | CA10566144 | G6PD | c.775G>A (p.Val259Met) c.778G>A (p.Val260Met) c.638G>A c.641G>A c.651-24G>A (n.651-24G>A) c.*617G>A (n.*617G>A) c.913G>A (p.Val305Met) c.865G>A (p.Val289Met) n.164G>A c.868G>A (p.Val290Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.154533666G>A | CA519304660 | G6PD | c.774C>T (p.Asp258=) c.777C>T (p.Asp259=) c.637C>T c.640C>T c.651-25C>T (n.651-25C>T) c.*616C>T (n.*616C>T) c.912C>T (p.Asp304=) c.864C>T (p.Asp288=) n.163C>T c.867C>T (p.Asp289=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154533666G>C | CA415235430 | G6PD | c.774C>G (p.Asp258Glu) c.777C>G (p.Asp259Glu) c.637C>G c.640C>G c.651-25C>G (n.651-25C>G) c.*616C>G (n.*616C>G) c.912C>G (p.Asp304Glu) c.864C>G (p.Asp288Glu) n.163C>G c.867C>G (p.Asp289Glu) | |
| X | g.154533666G= | CA2466723856 | G6PD | c.774C= (p.Asp258=) c.777C= (p.Asp259=) c.637C= c.640C= c.651-25C= (n.651-25C=) c.*616C= (n.*616C=) c.912C= (p.Asp304=) c.864C= (p.Asp288=) n.163C= c.867C= (p.Asp289=) | |
| X | g.154533666G>T | CA415235432 | G6PD | c.774C>A (p.Asp258Glu) c.777C>A (p.Asp259Glu) c.637C>A c.640C>A c.651-25C>A (n.651-25C>A) c.*616C>A (n.*616C>A) c.912C>A (p.Asp304Glu) c.864C>A (p.Asp288Glu) n.163C>A c.867C>A (p.Asp289Glu) | |
| X | g.154533667T>A | CA415235435 | G6PD | c.773A>T (p.Asp258Val) c.776A>T (p.Asp259Val) c.636A>T c.639A>T c.651-26A>T (n.651-26A>T) c.*615A>T (n.*615A>T) c.911A>T (p.Asp304Val) c.863A>T (p.Asp288Val) n.162A>T c.866A>T (p.Asp289Val) | |
| X | g.154533667T>C | CA415235438 | G6PD | c.773A>G (p.Asp258Gly) c.776A>G (p.Asp259Gly) c.636A>G c.639A>G c.651-26A>G (n.651-26A>G) c.*615A>G (n.*615A>G) c.911A>G (p.Asp304Gly) c.863A>G (p.Asp288Gly) n.162A>G c.866A>G (p.Asp289Gly) | |
| X | g.154533667T>G | CA415235439 | G6PD | c.773A>C (p.Asp258Ala) c.776A>C (p.Asp259Ala) c.636A>C c.639A>C c.651-26A>C (n.651-26A>C) c.*615A>C (n.*615A>C) c.911A>C (p.Asp304Ala) c.863A>C (p.Asp288Ala) n.162A>C c.866A>C (p.Asp289Ala) | |
| X | g.154533668C>A | CA415235450 | G6PD | c.772G>T (p.Asp258Tyr) c.775G>T (p.Asp259Tyr) c.635G>T c.638G>T c.651-27G>T (n.651-27G>T) c.*614G>T (n.*614G>T) c.910G>T (p.Asp304Tyr) c.862G>T (p.Asp288Tyr) n.161G>T c.865G>T (p.Asp289Tyr) | |
| X | g.154533668C>G | CA415235445 | G6PD | c.772G>C (p.Asp258His) c.775G>C (p.Asp259His) c.635G>C c.638G>C c.651-27G>C (n.651-27G>C) c.*614G>C (n.*614G>C) c.910G>C (p.Asp304His) c.862G>C (p.Asp288His) n.161G>C c.865G>C (p.Asp289His) | |
| X | g.154533668C>T | CA415235448 | G6PD | c.772G>A (p.Asp258Asn) c.775G>A (p.Asp259Asn) c.635G>A c.638G>A c.651-27G>A (n.651-27G>A) c.*614G>A (n.*614G>A) c.910G>A (p.Asp304Asn) c.862G>A (p.Asp288Asn) n.161G>A c.865G>A (p.Asp289Asn) | |
| X | g.154533669C>A | CA415235453 | G6PD | c.771G>T (p.Arg257=) c.774G>T (p.Arg258=) c.634G>T c.637G>T c.651-28G>T (n.651-28G>T) c.*613G>T (n.*613G>T) c.909G>T (p.Arg303Ser) c.861G>T (p.Arg287=) n.160G>T c.864G>T (p.Arg288=) | |
| X | g.154533669C>G | CA415235456 | G6PD | c.771G>C (p.Arg257=) c.774G>C (p.Arg258=) c.634G>C c.637G>C c.651-28G>C (n.651-28G>C) c.*613G>C (n.*613G>C) c.909G>C (p.Arg303Ser) c.861G>C (p.Arg287=) n.160G>C c.864G>C (p.Arg288=) | |
| X | g.154533669C>T | CA519304674 | G6PD | c.771G>A (p.Arg257=) c.774G>A (p.Arg258=) c.634G>A c.637G>A c.651-28G>A (n.651-28G>A) c.*613G>A (n.*613G>A) c.909G>A (p.Arg303=) c.861G>A (p.Arg287=) n.160G>A c.864G>A (p.Arg288=) | |
| X | g.154533670C>A | CA415235464 | G6PD | c.771-1G>T (n.771-1G>T) c.774-1G>T (n.774-1G>T) c.634-1G>T c.637-1G>T c.651-29G>T (n.651-29G>T) c.*613-1G>T (n.*613-1G>T) c.908G>T (p.Arg303Met) c.861-1G>T (n.861-1G>T) n.160-1G>T c.864-1G>T (n.864-1G>T) | |
| X | g.154533670C>G | CA415235466 | G6PD | c.771-1G>C (n.771-1G>C) c.774-1G>C (n.774-1G>C) c.634-1G>C c.637-1G>C c.651-29G>C (n.651-29G>C) c.*613-1G>C (n.*613-1G>C) c.908G>C (p.Arg303Thr) c.861-1G>C (n.861-1G>C) n.160-1G>C c.864-1G>C (n.864-1G>C) | |
| X | g.154533670C>T | CA415235469 | G6PD | c.771-1G>A (n.771-1G>A) c.774-1G>A (n.774-1G>A) c.634-1G>A c.637-1G>A c.651-29G>A (n.651-29G>A) c.*613-1G>A (n.*613-1G>A) c.908G>A (p.Arg303Lys) c.861-1G>A (n.861-1G>A) n.160-1G>A c.864-1G>A (n.864-1G>A) | |
| X | g.154533670_154533671insGGATGATCCCAAATTCATCGAAATAGCCCCCGCGACCCTCAG | CA2739243381 | G6PD | c.771-2_771-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC (n.771-2_771-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC) c.774-2_774-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC (n.774-2_774-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC) c.634-2_634-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC c.637-2_637-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC c.651-30_651-29insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC (n.651-30_651-29insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC) c.*613-2_*613-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC (n.*613-2_*613-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC) c.907_908insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC (p.Pro302_Arg303insThrGluGlyArgGlyGlyTyrPheAspGluPheGlyIleIle) c.861-2_861-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC (n.861-2_861-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC) n.160-2_160-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC c.864-2_864-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC (n.864-2_864-1insCTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCC) | dbSNP |
| X | g.154533671T>A | CA415235472 | G6PD | c.771-2A>T (n.771-2A>T) c.774-2A>T (n.774-2A>T) c.634-2A>T c.637-2A>T c.651-30A>T (n.651-30A>T) c.*613-2A>T (n.*613-2A>T) c.907A>T (p.Arg303Trp) c.861-2A>T (n.861-2A>T) n.160-2A>T c.864-2A>T (n.864-2A>T) | |
| X | g.154533671T>C | CA415235476 | G6PD | c.771-2A>G (n.771-2A>G) c.774-2A>G (n.774-2A>G) c.634-2A>G c.637-2A>G c.651-30A>G (n.651-30A>G) c.*613-2A>G (n.*613-2A>G) c.907A>G (p.Arg303Gly) c.861-2A>G (n.861-2A>G) n.160-2A>G c.864-2A>G (n.864-2A>G) | |
| X | g.154533671T>G | CA337317114 | G6PD | c.771-2A>C (n.771-2A>C) c.774-2A>C (n.774-2A>C) c.634-2A>C c.637-2A>C c.651-30A>C (n.651-30A>C) c.*613-2A>C (n.*613-2A>C) c.907A>C (p.Arg303=) c.861-2A>C (n.861-2A>C) n.160-2A>C c.864-2A>C (n.864-2A>C) | dbSNP |
| X | g.154533671T= | CA2466723857 | G6PD | c.771-2A= (n.771-2A=) c.774-2A= (n.774-2A=) c.634-2A= c.637-2A= c.651-30A= (n.651-30A=) c.*613-2A= (n.*613-2A=) c.907A= (p.Arg303=) c.861-2A= (n.861-2A=) n.160-2A= c.864-2A= (n.864-2A=) | |
| X | g.154533672G>A | CA221449 | G6PD | c.771-3C>T (n.771-3C>T) c.774-3C>T (n.774-3C>T) c.634-3C>T c.637-3C>T c.651-31C>T (n.651-31C>T) c.*613-3C>T (n.*613-3C>T) c.906C>T (p.Pro302=) c.861-3C>T (n.861-3C>T) n.160-3C>T c.864-3C>T (n.864-3C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154533672G= | CA2466723858 | G6PD | c.771-3C= (n.771-3C=) c.774-3C= (n.774-3C=) c.634-3C= c.637-3C= c.651-31C= (n.651-31C=) c.*613-3C= (n.*613-3C=) c.906C= (p.Pro302=) c.861-3C= (n.861-3C=) n.160-3C= c.864-3C= (n.864-3C=) | |
| X | g.154533672G>T | CA2507717066 | G6PD | c.771-3C>A (n.771-3C>A) c.774-3C>A (n.774-3C>A) c.634-3C>A c.637-3C>A c.651-31C>A (n.651-31C>A) c.*613-3C>A (n.*613-3C>A) c.906C>A (p.Pro302=) c.861-3C>A (n.861-3C>A) n.160-3C>A c.864-3C>A (n.864-3C>A) | |
| X | g.154533673G>A | CA415235488 | G6PD | c.771-4C>T (n.771-4C>T) c.774-4C>T (n.774-4C>T) c.634-4C>T c.637-4C>T c.651-32C>T (n.651-32C>T) c.*613-4C>T (n.*613-4C>T) c.905C>T (p.Pro302Leu) c.861-4C>T (n.861-4C>T) n.160-4C>T c.864-4C>T (n.864-4C>T) | |
| X | g.154533673G>C | CA10566145 | G6PD | c.771-4C>G (n.771-4C>G) c.774-4C>G (n.774-4C>G) c.634-4C>G c.637-4C>G c.651-32C>G (n.651-32C>G) c.*613-4C>G (n.*613-4C>G) c.905C>G (p.Pro302Arg) c.861-4C>G (n.861-4C>G) n.160-4C>G c.864-4C>G (n.864-4C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154533673G= | CA2466723859 | G6PD | c.771-4C= (n.771-4C=) c.774-4C= (n.774-4C=) c.634-4C= c.637-4C= c.651-32C= (n.651-32C=) c.*613-4C= (n.*613-4C=) c.905C= (p.Pro302=) c.861-4C= (n.861-4C=) n.160-4C= c.864-4C= (n.864-4C=) | |
| X | g.154533673G>T | CA415235482 | G6PD | c.771-4C>A (n.771-4C>A) c.774-4C>A (n.774-4C>A) c.634-4C>A c.637-4C>A c.651-32C>A (n.651-32C>A) c.*613-4C>A (n.*613-4C>A) c.905C>A (p.Pro302His) c.861-4C>A (n.861-4C>A) n.160-4C>A c.864-4C>A (n.864-4C>A) | dbSNP |
| X | g.154533674G>A | CA415235490 | G6PD | c.771-5C>T (n.771-5C>T) c.774-5C>T (n.774-5C>T) c.634-5C>T c.637-5C>T c.651-33C>T (n.651-33C>T) c.*613-5C>T (n.*613-5C>T) c.904C>T (p.Pro302Ser) c.861-5C>T (n.861-5C>T) n.160-5C>T c.864-5C>T (n.864-5C>T) | |
| X | g.154533674G>C | CA415235492 | G6PD | c.771-5C>G (n.771-5C>G) c.774-5C>G (n.774-5C>G) c.634-5C>G c.637-5C>G c.651-33C>G (n.651-33C>G) c.*613-5C>G (n.*613-5C>G) c.904C>G (p.Pro302Ala) c.861-5C>G (n.861-5C>G) n.160-5C>G c.864-5C>G (n.864-5C>G) | |
| X | g.154533674G>T | CA415235495 | G6PD | c.771-5C>A (n.771-5C>A) c.774-5C>A (n.774-5C>A) c.634-5C>A c.637-5C>A c.651-33C>A (n.651-33C>A) c.*613-5C>A (n.*613-5C>A) c.904C>A (p.Pro302Thr) c.861-5C>A (n.861-5C>A) n.160-5C>A c.864-5C>A (n.864-5C>A) | |
| X | g.154533676A>C | CA415235498 | G6PD | c.771-7T>G (n.771-7T>G) c.774-7T>G (n.774-7T>G) c.634-7T>G c.637-7T>G c.651-35T>G (n.651-35T>G) c.*613-7T>G (n.*613-7T>G) c.902T>G (p.Val301Gly) c.861-7T>G (n.861-7T>G) n.160-7T>G c.864-7T>G (n.864-7T>G) | |
| X | g.154533676A>G | CA415235499 | G6PD | c.771-7T>C (n.771-7T>C) c.774-7T>C (n.774-7T>C) c.634-7T>C c.637-7T>C c.651-35T>C (n.651-35T>C) c.*613-7T>C (n.*613-7T>C) c.902T>C (p.Val301Ala) c.861-7T>C (n.861-7T>C) n.160-7T>C c.864-7T>C (n.864-7T>C) | |
| X | g.154533676A>T | CA415235500 | G6PD | c.771-7T>A (n.771-7T>A) c.774-7T>A (n.774-7T>A) c.634-7T>A c.637-7T>A c.651-35T>A (n.651-35T>A) c.*613-7T>A (n.*613-7T>A) c.902T>A (p.Val301Asp) c.861-7T>A (n.861-7T>A) n.160-7T>A c.864-7T>A (n.864-7T>A) | |
| X | g.154533677C>A | CA415235502 | G6PD | c.771-8G>T (n.771-8G>T) c.774-8G>T (n.774-8G>T) c.634-8G>T c.637-8G>T c.651-36G>T (n.651-36G>T) c.*613-8G>T (n.*613-8G>T) c.901G>T (p.Val301Phe) c.861-8G>T (n.861-8G>T) n.160-8G>T c.864-8G>T (n.864-8G>T) | |
| X | g.154533677C= | CA2466723860 | G6PD | c.771-8G= (n.771-8G=) c.774-8G= (n.774-8G=) c.634-8G= c.637-8G= c.651-36G= (n.651-36G=) c.*613-8G= (n.*613-8G=) c.901G= (p.Val301=) c.861-8G= (n.861-8G=) n.160-8G= c.864-8G= (n.864-8G=) | |
| X | g.154533677C>G | CA415235505 | G6PD | c.771-8G>C (n.771-8G>C) c.774-8G>C (n.774-8G>C) c.634-8G>C c.637-8G>C c.651-36G>C (n.651-36G>C) c.*613-8G>C (n.*613-8G>C) c.901G>C (p.Val301Leu) c.861-8G>C (n.861-8G>C) n.160-8G>C c.864-8G>C (n.864-8G>C) | |
| X | g.154533677C>T | CA10566146 | G6PD | c.771-8G>A (n.771-8G>A) c.774-8G>A (n.774-8G>A) c.634-8G>A c.637-8G>A c.651-36G>A (n.651-36G>A) c.*613-8G>A (n.*613-8G>A) c.901G>A (p.Val301Ile) c.861-8G>A (n.861-8G>A) n.160-8G>A c.864-8G>A (n.864-8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154533678G>A | CA645291540 | G6PD | c.771-9C>T (n.771-9C>T) c.774-9C>T (n.774-9C>T) c.634-9C>T c.637-9C>T c.651-37C>T (n.651-37C>T) c.*613-9C>T (n.*613-9C>T) c.900C>T (p.Ser300=) c.861-9C>T (n.861-9C>T) n.160-9C>T c.864-9C>T (n.864-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154533678G= | CA2466723861 | G6PD | c.771-9C= (n.771-9C=) c.774-9C= (n.774-9C=) c.634-9C= c.637-9C= c.651-37C= (n.651-37C=) c.*613-9C= (n.*613-9C=) c.900C= (p.Ser300=) c.861-9C= (n.861-9C=) n.160-9C= c.864-9C= (n.864-9C=) | |
| X | g.154533679G>A | CA415235508 | G6PD | c.771-10C>T (n.771-10C>T) c.774-10C>T (n.774-10C>T) c.634-10C>T c.637-10C>T c.651-38C>T (n.651-38C>T) c.*613-10C>T (n.*613-10C>T) c.899C>T (p.Ser300Phe) c.861-10C>T (n.861-10C>T) n.160-10C>T c.864-10C>T (n.864-10C>T) | COSMIC COSMIC COSMIC |
| X | g.154533679G>C | CA415235510 | G6PD | c.771-10C>G (n.771-10C>G) c.774-10C>G (n.774-10C>G) c.634-10C>G c.637-10C>G c.651-38C>G (n.651-38C>G) c.*613-10C>G (n.*613-10C>G) c.899C>G (p.Ser300Cys) c.861-10C>G (n.861-10C>G) n.160-10C>G c.864-10C>G (n.864-10C>G) | |
| X | g.154533679G>T | CA415235513 | G6PD | c.771-10C>A (n.771-10C>A) c.774-10C>A (n.774-10C>A) c.634-10C>A c.637-10C>A c.651-38C>A (n.651-38C>A) c.*613-10C>A (n.*613-10C>A) c.899C>A (p.Ser300Tyr) c.861-10C>A (n.861-10C>A) n.160-10C>A c.864-10C>A (n.864-10C>A) | |
| X | g.154533680A= | CA2466723862 | G6PD | c.771-11T= (n.771-11T=) c.774-11T= (n.774-11T=) c.634-11T= c.637-11T= c.651-39T= (n.651-39T=) c.*613-11T= (n.*613-11T=) c.898T= (p.Ser300=) c.861-11T= (n.861-11T=) n.160-11T= c.864-11T= (n.864-11T=) | |
| X | g.154533680A>C | CA415235515 | G6PD | c.771-11T>G (n.771-11T>G) c.774-11T>G (n.774-11T>G) c.634-11T>G c.637-11T>G c.651-39T>G (n.651-39T>G) c.*613-11T>G (n.*613-11T>G) c.898T>G (p.Ser300Ala) c.861-11T>G (n.861-11T>G) n.160-11T>G c.864-11T>G (n.864-11T>G) | |
| X | g.154533680A>G | CA10566147 | G6PD | c.771-11T>C (n.771-11T>C) c.774-11T>C (n.774-11T>C) c.634-11T>C c.637-11T>C c.651-39T>C (n.651-39T>C) c.*613-11T>C (n.*613-11T>C) c.898T>C (p.Ser300Pro) c.861-11T>C (n.861-11T>C) n.160-11T>C c.864-11T>C (n.864-11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154533680A>T | CA415235517 | G6PD | c.771-11T>A (n.771-11T>A) c.774-11T>A (n.774-11T>A) c.634-11T>A c.637-11T>A c.651-39T>A (n.651-39T>A) c.*613-11T>A (n.*613-11T>A) c.898T>A (p.Ser300Thr) c.861-11T>A (n.861-11T>A) n.160-11T>A c.864-11T>A (n.864-11T>A) | gnomAD v4 |
| X | g.154533681A= | CA2466723863 | G6PD | c.771-12T= (n.771-12T=) c.774-12T= (n.774-12T=) c.634-12T= c.637-12T= c.651-40T= (n.651-40T=) c.*613-12T= (n.*613-12T=) c.897T= (p.Ser299=) c.861-12T= (n.861-12T=) n.160-12T= c.864-12T= (n.864-12T=) | |
| X | g.154533681A>G | CA2466723864 | G6PD | c.771-12T>C (n.771-12T>C) c.774-12T>C (n.774-12T>C) c.634-12T>C c.637-12T>C c.651-40T>C (n.651-40T>C) c.*613-12T>C (n.*613-12T>C) c.897T>C (p.Ser299=) c.861-12T>C (n.861-12T>C) n.160-12T>C c.864-12T>C (n.864-12T>C) | dbSNP |
| X | g.154533682G>A | CA10566148 | G6PD | c.771-13C>T (n.771-13C>T) c.774-13C>T (n.774-13C>T) c.634-13C>T c.637-13C>T c.651-41C>T (n.651-41C>T) c.*613-13C>T (n.*613-13C>T) c.896C>T (p.Ser299Phe) c.861-13C>T (n.861-13C>T) n.160-13C>T c.864-13C>T (n.864-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154533682G>C | CA415235522 | G6PD | c.771-13C>G (n.771-13C>G) c.774-13C>G (n.774-13C>G) c.634-13C>G c.637-13C>G c.651-41C>G (n.651-41C>G) c.*613-13C>G (n.*613-13C>G) c.896C>G (p.Ser299Cys) c.861-13C>G (n.861-13C>G) n.160-13C>G c.864-13C>G (n.864-13C>G) | |
| X | g.154533682G= | CA2466723865 | G6PD | c.771-13C= (n.771-13C=) c.774-13C= (n.774-13C=) c.634-13C= c.637-13C= c.651-41C= (n.651-41C=) c.*613-13C= (n.*613-13C=) c.896C= (p.Ser299=) c.861-13C= (n.861-13C=) n.160-13C= c.864-13C= (n.864-13C=) | |
| X | g.154533682G>T | CA415235523 | G6PD | c.771-13C>A (n.771-13C>A) c.774-13C>A (n.774-13C>A) c.634-13C>A c.637-13C>A c.651-41C>A (n.651-41C>A) c.*613-13C>A (n.*613-13C>A) c.896C>A (p.Ser299Tyr) c.861-13C>A (n.861-13C>A) n.160-13C>A c.864-13C>A (n.864-13C>A) | ClinVar |
| X | g.154533683A= | CA2466723866 | G6PD | c.771-14T= (n.771-14T=) c.774-14T= (n.774-14T=) c.634-14T= c.637-14T= c.651-42T= (n.651-42T=) c.*613-14T= (n.*613-14T=) c.895T= (p.Ser299=) c.861-14T= (n.861-14T=) n.160-14T= c.864-14T= (n.864-14T=) | |
| X | g.154533683A>C | CA415235526 | G6PD | c.771-14T>G (n.771-14T>G) c.774-14T>G (n.774-14T>G) c.634-14T>G c.637-14T>G c.651-42T>G (n.651-42T>G) c.*613-14T>G (n.*613-14T>G) c.895T>G (p.Ser299Ala) c.861-14T>G (n.861-14T>G) n.160-14T>G c.864-14T>G (n.864-14T>G) | |
| X | g.154533683A>G | CA337317143 | G6PD | c.771-14T>C (n.771-14T>C) c.774-14T>C (n.774-14T>C) c.634-14T>C c.637-14T>C c.651-42T>C (n.651-42T>C) c.*613-14T>C (n.*613-14T>C) c.895T>C (p.Ser299Pro) c.861-14T>C (n.861-14T>C) n.160-14T>C c.864-14T>C (n.864-14T>C) | dbSNP |
| X | g.154533683A>T | CA415235528 | G6PD | c.771-14T>A (n.771-14T>A) c.774-14T>A (n.774-14T>A) c.634-14T>A c.637-14T>A c.651-42T>A (n.651-42T>A) c.*613-14T>A (n.*613-14T>A) c.895T>A (p.Ser299Thr) c.861-14T>A (n.861-14T>A) n.160-14T>A c.864-14T>A (n.864-14T>A) | |
| X | g.154533685G>A | CA415235531 | G6PD | c.771-16C>T (n.771-16C>T) c.774-16C>T (n.774-16C>T) c.634-16C>T c.637-16C>T c.651-44C>T (n.651-44C>T) c.*613-16C>T (n.*613-16C>T) c.893C>T (p.Ala298Val) c.861-16C>T (n.861-16C>T) n.160-16C>T c.864-16C>T (n.864-16C>T) | dbSNP |
| X | g.154533685G>C | CA415235533 | G6PD | c.771-16C>G (n.771-16C>G) c.774-16C>G (n.774-16C>G) c.634-16C>G c.637-16C>G c.651-44C>G (n.651-44C>G) c.*613-16C>G (n.*613-16C>G) c.893C>G (p.Ala298Gly) c.861-16C>G (n.861-16C>G) n.160-16C>G c.864-16C>G (n.864-16C>G) | |
| X | g.154533685G>T | CA415235534 | G6PD | c.771-16C>A (n.771-16C>A) c.774-16C>A (n.774-16C>A) c.634-16C>A c.637-16C>A c.651-44C>A (n.651-44C>A) c.*613-16C>A (n.*613-16C>A) c.893C>A (p.Ala298Asp) c.861-16C>A (n.861-16C>A) n.160-16C>A c.864-16C>A (n.864-16C>A) | |
| X | g.154533686C>A | CA415235540 | G6PD | c.771-17G>T (n.771-17G>T) c.774-17G>T (n.774-17G>T) c.634-17G>T c.637-17G>T c.651-45G>T (n.651-45G>T) c.*613-17G>T (n.*613-17G>T) c.892G>T (p.Ala298Ser) c.861-17G>T (n.861-17G>T) n.160-17G>T c.864-17G>T (n.864-17G>T) | |
| X | g.154533686C>G | CA415235538 | G6PD | c.771-17G>C (n.771-17G>C) c.774-17G>C (n.774-17G>C) c.634-17G>C c.637-17G>C c.651-45G>C (n.651-45G>C) c.*613-17G>C (n.*613-17G>C) c.892G>C (p.Ala298Pro) c.861-17G>C (n.861-17G>C) n.160-17G>C c.864-17G>C (n.864-17G>C) | gnomAD v4 |
| X | g.154533686C>T | CA415235536 | G6PD | c.771-17G>A (n.771-17G>A) c.774-17G>A (n.774-17G>A) c.634-17G>A c.637-17G>A c.651-45G>A (n.651-45G>A) c.*613-17G>A (n.*613-17G>A) c.892G>A (p.Ala298Thr) c.861-17G>A (n.861-17G>A) n.160-17G>A c.864-17G>A (n.864-17G>A) |