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.154534289T>C | CA2466724095 | G6PD | c.644+49A>G (n.644+49A>G) c.647+49A>G (n.647+49A>G) c.507+49A>G c.510+49A>G c.524+49A>G (n.524+49A>G) c.*486+49A>G (n.*486+49A>G) c.734+49A>G (n.734+49A>G) c.737+49A>G (n.737+49A>G) | dbSNP |
| X | g.154534289T= | CA2466724094 | G6PD | c.644+49A= (n.644+49A=) c.647+49A= (n.647+49A=) c.507+49A= c.510+49A= c.524+49A= (n.524+49A=) c.*486+49A= (n.*486+49A=) c.734+49A= (n.734+49A=) c.737+49A= (n.737+49A=) | |
| X | g.154534290C>A | CA873343997 | G6PD | c.644+48G>T (n.644+48G>T) c.647+48G>T (n.647+48G>T) c.507+48G>T c.510+48G>T c.524+48G>T (n.524+48G>T) c.*486+48G>T (n.*486+48G>T) c.734+48G>T (n.734+48G>T) c.737+48G>T (n.737+48G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534290C= | CA2466724096 | G6PD | c.644+48G= (n.644+48G=) c.647+48G= (n.647+48G=) c.507+48G= c.510+48G= c.524+48G= (n.524+48G=) c.*486+48G= (n.*486+48G=) c.734+48G= (n.734+48G=) c.737+48G= (n.737+48G=) | |
| X | g.154534290C>T | CA10566193 | G6PD | c.644+48G>A (n.644+48G>A) c.647+48G>A (n.647+48G>A) c.507+48G>A c.510+48G>A c.524+48G>A (n.524+48G>A) c.*486+48G>A (n.*486+48G>A) c.734+48G>A (n.734+48G>A) c.737+48G>A (n.737+48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534291C= | CA2466724097 | G6PD | c.644+47G= (n.644+47G=) c.647+47G= (n.647+47G=) c.507+47G= c.510+47G= c.524+47G= (n.524+47G=) c.*486+47G= (n.*486+47G=) c.734+47G= (n.734+47G=) c.737+47G= (n.737+47G=) | |
| X | g.154534291C>T | CA2466724098 | G6PD | c.644+47G>A (n.644+47G>A) c.647+47G>A (n.647+47G>A) c.507+47G>A c.510+47G>A c.524+47G>A (n.524+47G>A) c.*486+47G>A (n.*486+47G>A) c.734+47G>A (n.734+47G>A) c.737+47G>A (n.737+47G>A) | dbSNP |
| X | g.154534293G>A | CA2695146553 | G6PD | c.644+45C>T (n.644+45C>T) c.647+45C>T (n.647+45C>T) c.507+45C>T c.510+45C>T c.524+45C>T (n.524+45C>T) c.*486+45C>T (n.*486+45C>T) c.734+45C>T (n.734+45C>T) c.737+45C>T (n.737+45C>T) | gnomAD v4 |
| X | g.154534293G>C | CA2466724099 | G6PD | c.644+45C>G (n.644+45C>G) c.647+45C>G (n.647+45C>G) c.507+45C>G c.510+45C>G c.524+45C>G (n.524+45C>G) c.*486+45C>G (n.*486+45C>G) c.734+45C>G (n.734+45C>G) c.737+45C>G (n.737+45C>G) | dbSNP |
| X | g.154534293G= | CA2466724100 | G6PD | c.644+45C= (n.644+45C=) c.647+45C= (n.647+45C=) c.507+45C= c.510+45C= c.524+45C= (n.524+45C=) c.*486+45C= (n.*486+45C=) c.734+45C= (n.734+45C=) c.737+45C= (n.737+45C=) | |
| X | g.154534294A>G | CA2695146558 | G6PD | c.644+44T>C (n.644+44T>C) c.647+44T>C (n.647+44T>C) c.507+44T>C c.510+44T>C c.524+44T>C (n.524+44T>C) c.*486+44T>C (n.*486+44T>C) c.734+44T>C (n.734+44T>C) c.737+44T>C (n.737+44T>C) | gnomAD v4 |
| X | g.154534295G>A | CA2695146559 | G6PD | c.644+43C>T (n.644+43C>T) c.647+43C>T (n.647+43C>T) c.507+43C>T c.510+43C>T c.524+43C>T (n.524+43C>T) c.*486+43C>T (n.*486+43C>T) c.734+43C>T (n.734+43C>T) c.737+43C>T (n.737+43C>T) | gnomAD v4 |
| X | g.154534298C>A | CA873343998 | G6PD | c.644+40G>T (n.644+40G>T) c.647+40G>T (n.647+40G>T) c.507+40G>T c.510+40G>T c.524+40G>T (n.524+40G>T) c.*486+40G>T (n.*486+40G>T) c.734+40G>T (n.734+40G>T) c.737+40G>T (n.737+40G>T) | dbSNP |
| X | g.154534298C= | CA2466724101 | G6PD | c.644+40G= (n.644+40G=) c.647+40G= (n.647+40G=) c.507+40G= c.510+40G= c.524+40G= (n.524+40G=) c.*486+40G= (n.*486+40G=) c.734+40G= (n.734+40G=) c.737+40G= (n.737+40G=) | |
| X | g.154534298C>T | CA873344005 | G6PD | c.644+40G>A (n.644+40G>A) c.647+40G>A (n.647+40G>A) c.507+40G>A c.510+40G>A c.524+40G>A (n.524+40G>A) c.*486+40G>A (n.*486+40G>A) c.734+40G>A (n.734+40G>A) c.737+40G>A (n.737+40G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534300A>G | CA2579742091 | G6PD | c.644+38T>C (n.644+38T>C) c.647+38T>C (n.647+38T>C) c.507+38T>C c.510+38T>C c.524+38T>C (n.524+38T>C) c.*486+38T>C (n.*486+38T>C) c.734+38T>C (n.734+38T>C) c.737+38T>C (n.737+38T>C) | |
| X | g.154534300_154534302delinsACC | CA2466724102 | G6PD | c.644+36_644+38delinsGGT (n.644+36_644+38delinsGGT) c.647+36_647+38delinsGGT (n.647+36_647+38delinsGGT) c.507+36_507+38delinsGGT c.510+36_510+38delinsGGT c.524+36_524+38delinsGGT (n.524+36_524+38delinsGGT) c.*486+36_*486+38delinsGGT (n.*486+36_*486+38delinsGGT) c.734+36_734+38delinsGGT (n.734+36_734+38delinsGGT) c.737+36_737+38delinsGGT (n.737+36_737+38delinsGGT) | |
| X | g.154534301C= | CA2466724103 | G6PD | c.644+37G= (n.644+37G=) c.647+37G= (n.647+37G=) c.507+37G= c.510+37G= c.524+37G= (n.524+37G=) c.*486+37G= (n.*486+37G=) c.734+37G= (n.734+37G=) c.737+37G= (n.737+37G=) | |
| X | g.154534301C>T | CA10566195 | G6PD | c.644+37G>A (n.644+37G>A) c.647+37G>A (n.647+37G>A) c.507+37G>A c.510+37G>A c.524+37G>A (n.524+37G>A) c.*486+37G>A (n.*486+37G>A) c.734+37G>A (n.734+37G>A) c.737+37G>A (n.737+37G>A) | dbSNP ExAC gnomAD v2 |
| X | g.154534305del | CA10566194 | G6PD | c.644+37del (n.644+37del) c.647+37del (n.647+37del) c.507+37del c.510+37del c.524+37del (n.524+37del) c.*486+37del (n.*486+37del) c.734+37del (n.734+37del) c.737+37del (n.737+37del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534304_154534305del | CA645178618 | G6PD | c.644+36_644+37del (n.644+36_644+37del) c.647+36_647+37del (n.647+36_647+37del) c.507+36_507+37del c.510+36_510+37del c.524+36_524+37del (n.524+36_524+37del) c.*486+36_*486+37del (n.*486+36_*486+37del) c.734+36_734+37del (n.734+36_734+37del) c.737+36_737+37del (n.737+36_737+37del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534302C>A | CA873344015 | G6PD | c.644+36G>T (n.644+36G>T) c.647+36G>T (n.647+36G>T) c.507+36G>T c.510+36G>T c.524+36G>T (n.524+36G>T) c.*486+36G>T (n.*486+36G>T) c.734+36G>T (n.734+36G>T) c.737+36G>T (n.737+36G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534302C= | CA2466724104 | G6PD | c.644+36G= (n.644+36G=) c.647+36G= (n.647+36G=) c.507+36G= c.510+36G= c.524+36G= (n.524+36G=) c.*486+36G= (n.*486+36G=) c.734+36G= (n.734+36G=) c.737+36G= (n.737+36G=) | |
| X | g.154534302C>T | CA2695146569 | G6PD | c.644+36G>A (n.644+36G>A) c.647+36G>A (n.647+36G>A) c.507+36G>A c.510+36G>A c.524+36G>A (n.524+36G>A) c.*486+36G>A (n.*486+36G>A) c.734+36G>A (n.734+36G>A) c.737+36G>A (n.737+36G>A) | gnomAD v4 |
| X | g.154534303C= | CA2466724105 | G6PD | c.644+35G= (n.644+35G=) c.647+35G= (n.647+35G=) c.507+35G= c.510+35G= c.524+35G= (n.524+35G=) c.*486+35G= (n.*486+35G=) c.734+35G= (n.734+35G=) c.737+35G= (n.737+35G=) | |
| X | g.154534303C>G | CA645178619 | G6PD | c.644+35G>C (n.644+35G>C) c.647+35G>C (n.647+35G>C) c.507+35G>C c.510+35G>C c.524+35G>C (n.524+35G>C) c.*486+35G>C (n.*486+35G>C) c.734+35G>C (n.734+35G>C) c.737+35G>C (n.737+35G>C) | dbSNP gnomAD v2 |
| X | g.154534304C= | CA2466724106 | G6PD | c.644+34G= (n.644+34G=) c.647+34G= (n.647+34G=) c.507+34G= c.510+34G= c.524+34G= (n.524+34G=) c.*486+34G= (n.*486+34G=) c.734+34G= (n.734+34G=) c.737+34G= (n.737+34G=) | |
| X | g.154534304C>T | CA2466724107 | G6PD | c.644+34G>A (n.644+34G>A) c.647+34G>A (n.647+34G>A) c.507+34G>A c.510+34G>A c.524+34G>A (n.524+34G>A) c.*486+34G>A (n.*486+34G>A) c.734+34G>A (n.734+34G>A) c.737+34G>A (n.737+34G>A) | dbSNP gnomAD v4 |
| X | g.154534305C>A | CA2466724110 | G6PD | c.644+33G>T (n.644+33G>T) c.647+33G>T (n.647+33G>T) c.507+33G>T c.510+33G>T c.524+33G>T (n.524+33G>T) c.*486+33G>T (n.*486+33G>T) c.734+33G>T (n.734+33G>T) c.737+33G>T (n.737+33G>T) | dbSNP gnomAD v4 |
| X | g.154534305C= | CA2466724108 | G6PD | c.644+33G= (n.644+33G=) c.647+33G= (n.647+33G=) c.507+33G= c.510+33G= c.524+33G= (n.524+33G=) c.*486+33G= (n.*486+33G=) c.734+33G= (n.734+33G=) c.737+33G= (n.737+33G=) | |
| X | g.154534305C>G | CA10566196 | G6PD | c.644+33G>C (n.644+33G>C) c.647+33G>C (n.647+33G>C) c.507+33G>C c.510+33G>C c.524+33G>C (n.524+33G>C) c.*486+33G>C (n.*486+33G>C) c.734+33G>C (n.734+33G>C) c.737+33G>C (n.737+33G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534305C>T | CA2466724109 | G6PD | c.644+33G>A (n.644+33G>A) c.647+33G>A (n.647+33G>A) c.507+33G>A c.510+33G>A c.524+33G>A (n.524+33G>A) c.*486+33G>A (n.*486+33G>A) c.734+33G>A (n.734+33G>A) c.737+33G>A (n.737+33G>A) | dbSNP gnomAD v4 |
| X | g.154534306A= | CA2466724111 | G6PD | c.644+32T= (n.644+32T=) c.647+32T= (n.647+32T=) c.507+32T= c.510+32T= c.524+32T= (n.524+32T=) c.*486+32T= (n.*486+32T=) c.734+32T= (n.734+32T=) c.737+32T= (n.737+32T=) | |
| X | g.154534306_154534310del | CA2695146576 | G6PD | c.644+28_644+32del (n.644+28_644+32del) c.647+28_647+32del (n.647+28_647+32del) c.507+28_507+32del c.510+28_510+32del c.524+28_524+32del (n.524+28_524+32del) c.*486+28_*486+32del (n.*486+28_*486+32del) c.734+28_734+32del (n.734+28_734+32del) c.737+28_737+32del (n.737+28_737+32del) | gnomAD v4 |
| X | g.154534309dup | CA415236960 | G6PD | c.644+31dup (n.644+31dup) c.647+31dup (n.647+31dup) c.507+31dup c.510+31dup c.524+31dup (n.524+31dup) c.*486+31dup (n.*486+31dup) c.734+31dup (n.734+31dup) c.737+31dup (n.737+31dup) | dbSNP |
| X | g.154534311G>A | CA10566197 | G6PD | c.644+27C>T (n.644+27C>T) c.647+27C>T (n.647+27C>T) c.507+27C>T c.510+27C>T c.524+27C>T (n.524+27C>T) c.*486+27C>T (n.*486+27C>T) c.734+27C>T (n.734+27C>T) c.737+27C>T (n.737+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534311G= | CA2466724112 | G6PD | c.644+27C= (n.644+27C=) c.647+27C= (n.647+27C=) c.507+27C= c.510+27C= c.524+27C= (n.524+27C=) c.*486+27C= (n.*486+27C=) c.734+27C= (n.734+27C=) c.737+27C= (n.737+27C=) | |
| X | g.154534312G= | CA2466724113 | G6PD | c.644+26C= (n.644+26C=) c.647+26C= (n.647+26C=) c.507+26C= c.510+26C= c.524+26C= (n.524+26C=) c.*486+26C= (n.*486+26C=) c.734+26C= (n.734+26C=) c.737+26C= (n.737+26C=) | |
| X | g.154534312G>T | CA10566198 | G6PD | c.644+26C>A (n.644+26C>A) c.647+26C>A (n.647+26C>A) c.507+26C>A c.510+26C>A c.524+26C>A (n.524+26C>A) c.*486+26C>A (n.*486+26C>A) c.734+26C>A (n.734+26C>A) c.737+26C>A (n.737+26C>A) | dbSNP ExAC gnomAD v2 |
| X | g.154534314C>A | CA2466724115 | G6PD | c.644+24G>T (n.644+24G>T) c.647+24G>T (n.647+24G>T) c.507+24G>T c.510+24G>T c.524+24G>T (n.524+24G>T) c.*486+24G>T (n.*486+24G>T) c.734+24G>T (n.734+24G>T) c.737+24G>T (n.737+24G>T) | dbSNP |
| X | g.154534314C= | CA2466724114 | G6PD | c.644+24G= (n.644+24G=) c.647+24G= (n.647+24G=) c.507+24G= c.510+24G= c.524+24G= (n.524+24G=) c.*486+24G= (n.*486+24G=) c.734+24G= (n.734+24G=) c.737+24G= (n.737+24G=) | |
| X | g.154534314C>T | CA10566199 | G6PD | c.644+24G>A (n.644+24G>A) c.647+24G>A (n.647+24G>A) c.507+24G>A c.510+24G>A c.524+24G>A (n.524+24G>A) c.*486+24G>A (n.*486+24G>A) c.734+24G>A (n.734+24G>A) c.737+24G>A (n.737+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534318del | CA2695146584 | G6PD | c.644+24del (n.644+24del) c.647+24del (n.647+24del) c.507+24del c.510+24del c.524+24del (n.524+24del) c.*486+24del (n.*486+24del) c.734+24del (n.734+24del) c.737+24del (n.737+24del) | gnomAD v4 |
| X | g.154534315C>A | CA2538892572 | G6PD | c.644+23G>T (n.644+23G>T) c.647+23G>T (n.647+23G>T) c.507+23G>T c.510+23G>T c.524+23G>T (n.524+23G>T) c.*486+23G>T (n.*486+23G>T) c.734+23G>T (n.734+23G>T) c.737+23G>T (n.737+23G>T) | |
| X | g.154534316C= | CA2466724116 | G6PD | c.644+22G= (n.644+22G=) c.647+22G= (n.647+22G=) c.507+22G= c.510+22G= c.524+22G= (n.524+22G=) c.*486+22G= (n.*486+22G=) c.734+22G= (n.734+22G=) c.737+22G= (n.737+22G=) | |
| X | g.154534316C>T | CA645178620 | G6PD | c.644+22G>A (n.644+22G>A) c.647+22G>A (n.647+22G>A) c.507+22G>A c.510+22G>A c.524+22G>A (n.524+22G>A) c.*486+22G>A (n.*486+22G>A) c.734+22G>A (n.734+22G>A) c.737+22G>A (n.737+22G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534317C>A | CA10566200 | G6PD | c.644+21G>T (n.644+21G>T) c.647+21G>T (n.647+21G>T) c.507+21G>T c.510+21G>T c.524+21G>T (n.524+21G>T) c.*486+21G>T (n.*486+21G>T) c.734+21G>T (n.734+21G>T) c.737+21G>T (n.737+21G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534317C= | CA2466724117 | G6PD | c.644+21G= (n.644+21G=) c.647+21G= (n.647+21G=) c.507+21G= c.510+21G= c.524+21G= (n.524+21G=) c.*486+21G= (n.*486+21G=) c.734+21G= (n.734+21G=) c.737+21G= (n.737+21G=) | |
| X | g.154534318C= | CA2466724118 | G6PD | c.644+20G= (n.644+20G=) c.647+20G= (n.647+20G=) c.507+20G= c.510+20G= c.524+20G= (n.524+20G=) c.*486+20G= (n.*486+20G=) c.734+20G= (n.734+20G=) c.737+20G= (n.737+20G=) | |
| X | g.154534318C>T | CA10566201 | G6PD | c.644+20G>A (n.644+20G>A) c.647+20G>A (n.647+20G>A) c.507+20G>A c.510+20G>A c.524+20G>A (n.524+20G>A) c.*486+20G>A (n.*486+20G>A) c.734+20G>A (n.734+20G>A) c.737+20G>A (n.737+20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534319G>A | CA10566202 | G6PD | c.644+19C>T (n.644+19C>T) c.647+19C>T (n.647+19C>T) c.507+19C>T c.510+19C>T c.524+19C>T (n.524+19C>T) c.*486+19C>T (n.*486+19C>T) c.734+19C>T (n.734+19C>T) c.737+19C>T (n.737+19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534319G>C | CA2466724120 | G6PD | c.644+19C>G (n.644+19C>G) c.647+19C>G (n.647+19C>G) c.507+19C>G c.510+19C>G c.524+19C>G (n.524+19C>G) c.*486+19C>G (n.*486+19C>G) c.734+19C>G (n.734+19C>G) c.737+19C>G (n.737+19C>G) | dbSNP gnomAD v4 |
| X | g.154534319G= | CA2466724119 | G6PD | c.644+19C= (n.644+19C=) c.647+19C= (n.647+19C=) c.507+19C= c.510+19C= c.524+19C= (n.524+19C=) c.*486+19C= (n.*486+19C=) c.734+19C= (n.734+19C=) c.737+19C= (n.737+19C=) | |
| X | g.154534320G>A | CA337317462 | G6PD | c.644+18C>T (n.644+18C>T) c.647+18C>T (n.647+18C>T) c.507+18C>T c.510+18C>T c.524+18C>T (n.524+18C>T) c.*486+18C>T (n.*486+18C>T) c.734+18C>T (n.734+18C>T) c.737+18C>T (n.737+18C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534320G>C | CA2695146609 | G6PD | c.644+18C>G (n.644+18C>G) c.647+18C>G (n.647+18C>G) c.507+18C>G c.510+18C>G c.524+18C>G (n.524+18C>G) c.*486+18C>G (n.*486+18C>G) c.734+18C>G (n.734+18C>G) c.737+18C>G (n.737+18C>G) | gnomAD v4 |
| X | g.154534320G= | CA2466724121 | G6PD | c.644+18C= (n.644+18C=) c.647+18C= (n.647+18C=) c.507+18C= c.510+18C= c.524+18C= (n.524+18C=) c.*486+18C= (n.*486+18C=) c.734+18C= (n.734+18C=) c.737+18C= (n.737+18C=) | |
| X | g.154534321C= | CA2466724122 | G6PD | c.644+17G= (n.644+17G=) c.647+17G= (n.647+17G=) c.507+17G= c.510+17G= c.524+17G= (n.524+17G=) c.*486+17G= (n.*486+17G=) c.734+17G= (n.734+17G=) c.737+17G= (n.737+17G=) | |
| X | g.154534321C>T | CA337317467 | G6PD | c.644+17G>A (n.644+17G>A) c.647+17G>A (n.647+17G>A) c.507+17G>A c.510+17G>A c.524+17G>A (n.524+17G>A) c.*486+17G>A (n.*486+17G>A) c.734+17G>A (n.734+17G>A) c.737+17G>A (n.737+17G>A) | dbSNP gnomAD v4 |
| X | g.154534322C= | CA2466724123 | G6PD | c.644+16G= (n.644+16G=) c.647+16G= (n.647+16G=) c.507+16G= c.510+16G= c.524+16G= (n.524+16G=) c.*486+16G= (n.*486+16G=) c.734+16G= (n.734+16G=) c.737+16G= (n.737+16G=) | |
| X | g.154534322C>G | CA10566203 | G6PD | c.644+16G>C (n.644+16G>C) c.647+16G>C (n.647+16G>C) c.507+16G>C c.510+16G>C c.524+16G>C (n.524+16G>C) c.*486+16G>C (n.*486+16G>C) c.734+16G>C (n.734+16G>C) c.737+16G>C (n.737+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534326G>A | CA873344034 | G6PD | c.644+12C>T (n.644+12C>T) c.647+12C>T (n.647+12C>T) c.507+12C>T c.510+12C>T c.524+12C>T (n.524+12C>T) c.*486+12C>T (n.*486+12C>T) c.734+12C>T (n.734+12C>T) c.737+12C>T (n.737+12C>T) | dbSNP |
| X | g.154534326G>C | CA2695146613 | G6PD | c.644+12C>G (n.644+12C>G) c.647+12C>G (n.647+12C>G) c.507+12C>G c.510+12C>G c.524+12C>G (n.524+12C>G) c.*486+12C>G (n.*486+12C>G) c.734+12C>G (n.734+12C>G) c.737+12C>G (n.737+12C>G) | gnomAD v4 |
| X | g.154534326G= | CA2466724124 | G6PD | c.644+12C= (n.644+12C=) c.647+12C= (n.647+12C=) c.507+12C= c.510+12C= c.524+12C= (n.524+12C=) c.*486+12C= (n.*486+12C=) c.734+12C= (n.734+12C=) c.737+12C= (n.737+12C=) | |
| X | g.154534327C>T | CA2695146615 | G6PD | c.644+11G>A (n.644+11G>A) c.647+11G>A (n.647+11G>A) c.507+11G>A c.510+11G>A c.524+11G>A (n.524+11G>A) c.*486+11G>A (n.*486+11G>A) c.734+11G>A (n.734+11G>A) c.737+11G>A (n.737+11G>A) | gnomAD v4 |
| X | g.154534328T>C | CA2580101932 | G6PD | c.644+10A>G (n.644+10A>G) c.647+10A>G (n.647+10A>G) c.507+10A>G c.510+10A>G c.524+10A>G (n.524+10A>G) c.*486+10A>G (n.*486+10A>G) c.734+10A>G (n.734+10A>G) c.737+10A>G (n.737+10A>G) | ClinVar gnomAD v4 |
| X | g.154534329T>C | CA873344037 | G6PD | c.644+9A>G (n.644+9A>G) c.647+9A>G (n.647+9A>G) c.507+9A>G c.510+9A>G c.524+9A>G (n.524+9A>G) c.*486+9A>G (n.*486+9A>G) c.734+9A>G (n.734+9A>G) c.737+9A>G (n.737+9A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534329T>G | CA2499226511 | G6PD | c.644+9A>C (n.644+9A>C) c.647+9A>C (n.647+9A>C) c.507+9A>C c.510+9A>C c.524+9A>C (n.524+9A>C) c.*486+9A>C (n.*486+9A>C) c.734+9A>C (n.734+9A>C) c.737+9A>C (n.737+9A>C) | ClinVar dbSNP |
| X | g.154534329T= | CA2466724125 | G6PD | c.644+9A= (n.644+9A=) c.647+9A= (n.647+9A=) c.507+9A= c.510+9A= c.524+9A= (n.524+9A=) c.*486+9A= (n.*486+9A=) c.734+9A= (n.734+9A=) c.737+9A= (n.737+9A=) | |
| X | g.154534330G>T | CA2579742092 | G6PD | c.644+8C>A (n.644+8C>A) c.647+8C>A (n.647+8C>A) c.507+8C>A c.510+8C>A c.524+8C>A (n.524+8C>A) c.*486+8C>A (n.*486+8C>A) c.734+8C>A (n.734+8C>A) c.737+8C>A (n.737+8C>A) | |
| X | g.154534331G>A | CA1138582985 | G6PD | c.644+7C>T (n.644+7C>T) c.647+7C>T (n.647+7C>T) c.507+7C>T c.510+7C>T c.524+7C>T (n.524+7C>T) c.*486+7C>T (n.*486+7C>T) c.734+7C>T (n.734+7C>T) c.737+7C>T (n.737+7C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534331G= | CA2466724126 | G6PD | c.644+7C= (n.644+7C=) c.647+7C= (n.647+7C=) c.507+7C= c.510+7C= c.524+7C= (n.524+7C=) c.*486+7C= (n.*486+7C=) c.734+7C= (n.734+7C=) c.737+7C= (n.737+7C=) | |
| X | g.154534331G>T | CA2695146622 | G6PD | c.644+7C>A (n.644+7C>A) c.647+7C>A (n.647+7C>A) c.507+7C>A c.510+7C>A c.524+7C>A (n.524+7C>A) c.*486+7C>A (n.*486+7C>A) c.734+7C>A (n.734+7C>A) c.737+7C>A (n.737+7C>A) | gnomAD v4 |
| X | g.154534332C>T | CA2580101933 | G6PD | c.644+6G>A (n.644+6G>A) c.647+6G>A (n.647+6G>A) c.507+6G>A c.510+6G>A c.524+6G>A (n.524+6G>A) c.*486+6G>A (n.*486+6G>A) c.734+6G>A (n.734+6G>A) c.737+6G>A (n.737+6G>A) | ClinVar |
| X | g.154534335del | CA2579742093 | G6PD | c.644+6del (n.644+6del) c.647+6del (n.647+6del) c.507+6del c.510+6del c.524+6del (n.524+6del) c.*486+6del (n.*486+6del) c.734+6del (n.734+6del) c.737+6del (n.737+6del) | gnomAD v4 |
| X | g.154534335C>A | CA2571743837 | G6PD | c.644+3G>T (n.644+3G>T) c.647+3G>T (n.647+3G>T) c.507+3G>T c.510+3G>T c.524+3G>T (n.524+3G>T) c.*486+3G>T (n.*486+3G>T) c.734+3G>T (n.734+3G>T) c.737+3G>T (n.737+3G>T) | |
| X | g.154534335C>T | CA2695146626 | G6PD | c.644+3G>A (n.644+3G>A) c.647+3G>A (n.647+3G>A) c.507+3G>A c.510+3G>A c.524+3G>A (n.524+3G>A) c.*486+3G>A (n.*486+3G>A) c.734+3G>A (n.734+3G>A) c.737+3G>A (n.737+3G>A) | gnomAD v4 |
| X | g.154534336A>C | CA415236978 | G6PD | c.644+2T>G (n.644+2T>G) c.647+2T>G (n.647+2T>G) c.507+2T>G c.510+2T>G c.524+2T>G (n.524+2T>G) c.*486+2T>G (n.*486+2T>G) c.734+2T>G (n.734+2T>G) c.737+2T>G (n.737+2T>G) | |
| X | g.154534336A>G | CA415236979 | G6PD | c.644+2T>C (n.644+2T>C) c.647+2T>C (n.647+2T>C) c.507+2T>C c.510+2T>C c.524+2T>C (n.524+2T>C) c.*486+2T>C (n.*486+2T>C) c.734+2T>C (n.734+2T>C) c.737+2T>C (n.737+2T>C) | |
| X | g.154534336A>T | CA415236982 | G6PD | c.644+2T>A (n.644+2T>A) c.647+2T>A (n.647+2T>A) c.507+2T>A c.510+2T>A c.524+2T>A (n.524+2T>A) c.*486+2T>A (n.*486+2T>A) c.734+2T>A (n.734+2T>A) c.737+2T>A (n.737+2T>A) | |
| X | g.154534337C>A | CA415236985 | G6PD | c.644+1G>T (n.644+1G>T) c.647+1G>T (n.647+1G>T) c.507+1G>T c.510+1G>T c.524+1G>T (n.524+1G>T) c.*486+1G>T (n.*486+1G>T) c.734+1G>T (n.734+1G>T) c.737+1G>T (n.737+1G>T) | dbSNP |
| X | g.154534337C= | CA2466724127 | G6PD | c.644+1G= (n.644+1G=) c.647+1G= (n.647+1G=) c.507+1G= c.510+1G= c.524+1G= (n.524+1G=) c.*486+1G= (n.*486+1G=) c.734+1G= (n.734+1G=) c.737+1G= (n.737+1G=) | |
| X | g.154534337C>G | CA415236987 | G6PD | c.644+1G>C (n.644+1G>C) c.647+1G>C (n.647+1G>C) c.507+1G>C c.510+1G>C c.524+1G>C (n.524+1G>C) c.*486+1G>C (n.*486+1G>C) c.734+1G>C (n.734+1G>C) c.737+1G>C (n.737+1G>C) | |
| X | g.154534337C>T | CA415236990 | G6PD | c.644+1G>A (n.644+1G>A) c.647+1G>A (n.647+1G>A) c.507+1G>A c.510+1G>A c.524+1G>A (n.524+1G>A) c.*486+1G>A (n.*486+1G>A) c.734+1G>A (n.734+1G>A) c.737+1G>A (n.737+1G>A) | |
| X | g.154534338dup | CA2499226512 | G6PD | c.644+1dup c.647+1dup c.507+1dup c.510+1dup c.524+1dup c.*486+1dup c.734+1dup c.737+1dup | ClinVar dbSNP |
| X | g.154534338C>A | CA415236993 | G6PD | c.644G>T (p.Arg215Ile) c.647G>T (p.Arg216Ile) c.507G>T c.510G>T c.524G>T (p.Arg175Ile) c.*486G>T (n.*486G>T) c.734G>T (p.Arg245Ile) c.737G>T (p.Arg246Ile) | |
| X | g.154534338C>G | CA415236996 | G6PD | c.644G>C (p.Arg215Thr) c.647G>C (p.Arg216Thr) c.507G>C c.510G>C c.524G>C (p.Arg175Thr) c.*486G>C (n.*486G>C) c.734G>C (p.Arg245Thr) c.737G>C (p.Arg246Thr) | |
| X | g.154534338C>T | CA415236998 | G6PD | c.644G>A (p.Arg215Lys) c.647G>A (p.Arg216Lys) c.507G>A c.510G>A c.524G>A (p.Arg175Lys) c.*486G>A (n.*486G>A) c.734G>A (p.Arg245Lys) c.737G>A (p.Arg246Lys) | |
| X | g.154534339T>A | CA415237005 | G6PD | c.643A>T (p.Arg215Ter) c.646A>T (p.Arg216Ter) c.506A>T c.509A>T c.523A>T (p.Arg175Ter) c.*485A>T (n.*485A>T) c.733A>T (p.Arg245Ter) c.736A>T (p.Arg246Ter) | |
| X | g.154534339T>C | CA415237002 | G6PD | c.643A>G (p.Arg215Gly) c.646A>G (p.Arg216Gly) c.506A>G c.509A>G c.523A>G (p.Arg175Gly) c.*485A>G (n.*485A>G) c.733A>G (p.Arg245Gly) c.736A>G (p.Arg246Gly) | |
| X | g.154534339T>G | CA519305252 | G6PD | c.643A>C (p.Arg215=) c.646A>C (p.Arg216=) c.506A>C c.509A>C c.523A>C (p.Arg175=) c.*485A>C (n.*485A>C) c.733A>C (p.Arg245=) c.736A>C (p.Arg246=) | |
| X | g.154534340C>A | CA519305253 | G6PD | c.642G>T (p.Leu214=) c.645G>T (p.Leu215=) c.505G>T c.508G>T c.522G>T (p.Leu174=) c.*484G>T (n.*484G>T) c.732G>T (p.Leu244=) c.735G>T (p.Leu245=) | |
| X | g.154534340C>G | CA519305254 | G6PD | c.642G>C (p.Leu214=) c.645G>C (p.Leu215=) c.505G>C c.508G>C c.522G>C (p.Leu174=) c.*484G>C (n.*484G>C) c.732G>C (p.Leu244=) c.735G>C (p.Leu245=) | |
| X | g.154534340C>T | CA519305255 | G6PD | c.642G>A (p.Leu214=) c.645G>A (p.Leu215=) c.505G>A c.508G>A c.522G>A (p.Leu174=) c.*484G>A (n.*484G>A) c.732G>A (p.Leu244=) c.735G>A (p.Leu245=) | |
| X | g.154534341A>C | CA415237009 | G6PD | c.641T>G (p.Leu214Arg) c.644T>G (p.Leu215Arg) c.504T>G c.507T>G c.521T>G (p.Leu174Arg) c.*483T>G (n.*483T>G) c.731T>G (p.Leu244Arg) c.734T>G (p.Leu245Arg) | |
| X | g.154534341A>G | CA415237011 | G6PD | c.641T>C (p.Leu214Pro) c.644T>C (p.Leu215Pro) c.504T>C c.507T>C c.521T>C (p.Leu174Pro) c.*483T>C (n.*483T>C) c.731T>C (p.Leu244Pro) c.734T>C (p.Leu245Pro) | |
| X | g.154534341A>T | CA415237014 | G6PD | c.641T>A (p.Leu214Gln) c.644T>A (p.Leu215Gln) c.504T>A c.507T>A c.521T>A (p.Leu174Gln) c.*483T>A (n.*483T>A) c.731T>A (p.Leu244Gln) c.734T>A (p.Leu245Gln) | |
| X | g.154534342G>A | CA519305256 | G6PD | c.640C>T (p.Leu214=) c.643C>T (p.Leu215=) c.503C>T c.506C>T c.520C>T (p.Leu174=) c.*482C>T (n.*482C>T) c.730C>T (p.Leu244=) c.733C>T (p.Leu245=) | |
| X | g.154534342G>C | CA415237021 | G6PD | c.640C>G (p.Leu214Val) c.643C>G (p.Leu215Val) c.503C>G c.506C>G c.520C>G (p.Leu174Val) c.*482C>G (n.*482C>G) c.730C>G (p.Leu244Val) c.733C>G (p.Leu245Val) | |
| X | g.154534342G>T | CA415237025 | G6PD | c.640C>A (p.Leu214Met) c.643C>A (p.Leu215Met) c.503C>A c.506C>A c.520C>A (p.Leu174Met) c.*482C>A (n.*482C>A) c.730C>A (p.Leu244Met) c.733C>A (p.Leu245Met) | |
| X | g.154534343C>A | CA519305258 | G6PD | c.639G>T (p.Val213=) c.642G>T (p.Val214=) c.502G>T c.505G>T c.519G>T (p.Val173=) c.*481G>T (n.*481G>T) c.729G>T (p.Val243=) c.732G>T (p.Val244=) | |
| X | g.154534343C>G | CA519305259 | G6PD | c.639G>C (p.Val213=) c.642G>C (p.Val214=) c.502G>C c.505G>C c.519G>C (p.Val173=) c.*481G>C (n.*481G>C) c.729G>C (p.Val243=) c.732G>C (p.Val244=) | |
| X | g.154534343C>T | CA519305257 | G6PD | c.639G>A (p.Val213=) c.642G>A (p.Val214=) c.502G>A c.505G>A c.519G>A (p.Val173=) c.*481G>A (n.*481G>A) c.729G>A (p.Val243=) c.732G>A (p.Val244=) | |
| X | g.154534344A= | CA2466724128 | G6PD | c.638T= (p.Val213=) c.641T= (p.Val214=) c.501T= c.504T= c.518T= (p.Val173=) c.*480T= (n.*480T=) c.728T= (p.Val243=) c.731T= (p.Val244=) | |
| X | g.154534344A>C | CA415237026 | G6PD | c.638T>G (p.Val213Gly) c.641T>G (p.Val214Gly) c.501T>G c.504T>G c.518T>G (p.Val173Gly) c.*480T>G (n.*480T>G) c.728T>G (p.Val243Gly) c.731T>G (p.Val244Gly) | |
| X | g.154534344A>G | CA10566204 | G6PD | c.638T>C (p.Val213Ala) c.641T>C (p.Val214Ala) c.501T>C c.504T>C c.518T>C (p.Val173Ala) c.*480T>C (n.*480T>C) c.728T>C (p.Val243Ala) c.731T>C (p.Val244Ala) | dbSNP ExAC |
| X | g.154534344A>T | CA415237030 | G6PD | c.638T>A (p.Val213Glu) c.641T>A (p.Val214Glu) c.501T>A c.504T>A c.518T>A (p.Val173Glu) c.*480T>A (n.*480T>A) c.728T>A (p.Val243Glu) c.731T>A (p.Val244Glu) | |
| X | g.154534345C>A | CA120984 | G6PD | c.637G>T (p.Val213Leu) c.640G>T (p.Val214Leu) c.500G>T c.503G>T c.517G>T (p.Val173Leu) c.*479G>T (n.*479G>T) c.727G>T (p.Val243Leu) c.730G>T (p.Val244Leu) | ClinVar dbSNP |
| X | g.154534345C= | CA2466724129 | G6PD | c.637G= (p.Val213=) c.640G= (p.Val214=) c.500G= c.503G= c.517G= (p.Val173=) c.*479G= (n.*479G=) c.727G= (p.Val243=) c.730G= (p.Val244=) | |
| X | g.154534345C>G | CA10566205 | G6PD | c.637G>C (p.Val213Leu) c.640G>C (p.Val214Leu) c.500G>C c.503G>C c.517G>C (p.Val173Leu) c.*479G>C (n.*479G>C) c.727G>C (p.Val243Leu) c.730G>C (p.Val244Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534345C>T | CA415237042 | G6PD | c.637G>A (p.Val213Met) c.640G>A (p.Val214Met) c.500G>A c.503G>A c.517G>A (p.Val173Met) c.*479G>A (n.*479G>A) c.727G>A (p.Val243Met) c.730G>A (p.Val244Met) | |
| X | g.154534346C>A | CA415237052 | G6PD | c.636G>T (p.Met212Ile) c.639G>T (p.Met213Ile) c.499G>T c.502G>T c.516G>T (p.Met172Ile) c.*478G>T (n.*478G>T) c.726G>T (p.Met242Ile) c.729G>T (p.Met243Ile) | |
| X | g.154534346C>G | CA415237047 | G6PD | c.636G>C (p.Met212Ile) c.639G>C (p.Met213Ile) c.499G>C c.502G>C c.516G>C (p.Met172Ile) c.*478G>C (n.*478G>C) c.726G>C (p.Met242Ile) c.729G>C (p.Met243Ile) | |
| X | g.154534346C>T | CA415237045 | G6PD | c.636G>A (p.Met212Ile) c.639G>A (p.Met213Ile) c.499G>A c.502G>A c.516G>A (p.Met172Ile) c.*478G>A (n.*478G>A) c.726G>A (p.Met242Ile) c.729G>A (p.Met243Ile) | |
| X | g.154534347A>C | CA415237056 | G6PD | c.635T>G (p.Met212Arg) c.638T>G (p.Met213Arg) c.498T>G c.501T>G c.515T>G (p.Met172Arg) c.*477T>G (n.*477T>G) c.725T>G (p.Met242Arg) c.728T>G (p.Met243Arg) | |
| X | g.154534347A>G | CA415237060 | G6PD | c.635T>C (p.Met212Thr) c.638T>C (p.Met213Thr) c.498T>C c.501T>C c.515T>C (p.Met172Thr) c.*477T>C (n.*477T>C) c.725T>C (p.Met242Thr) c.728T>C (p.Met243Thr) | |
| X | g.154534347A>T | CA415237058 | G6PD | c.635T>A (p.Met212Lys) c.638T>A (p.Met213Lys) c.498T>A c.501T>A c.515T>A (p.Met172Lys) c.*477T>A (n.*477T>A) c.725T>A (p.Met242Lys) c.728T>A (p.Met243Lys) | |
| X | g.154534348T>A | CA415237064 | G6PD | c.634A>T (p.Met212Leu) c.637A>T (p.Met213Leu) c.497A>T c.500A>T c.514A>T (p.Met172Leu) c.*476A>T (n.*476A>T) c.724A>T (p.Met242Leu) c.727A>T (p.Met243Leu) | |
| X | g.154534348T>C | CA10566206 | G6PD | c.634A>G (p.Met212Val) c.637A>G (p.Met213Val) c.497A>G c.500A>G c.514A>G (p.Met172Val) c.*476A>G (n.*476A>G) c.724A>G (p.Met242Val) c.727A>G (p.Met243Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534348T>G | CA415237066 | G6PD | c.634A>C (p.Met212Leu) c.637A>C (p.Met213Leu) c.497A>C c.500A>C c.514A>C (p.Met172Leu) c.*476A>C (n.*476A>C) c.724A>C (p.Met242Leu) c.727A>C (p.Met243Leu) | dbSNP gnomAD v4 |
| X | g.154534348T= | CA2466724130 | G6PD | c.634A= (p.Met212=) c.637A= (p.Met213=) c.497A= c.500A= c.514A= (p.Met172=) c.*476A= (n.*476A=) c.724A= (p.Met242=) c.727A= (p.Met243=) | |
| X | g.154534349G>A | CA337317502 | G6PD | c.633C>T (p.Leu211=) c.636C>T (p.Leu212=) c.496C>T c.499C>T c.513C>T (p.Leu171=) c.*475C>T (n.*475C>T) c.723C>T (p.Leu241=) c.726C>T (p.Leu242=) | dbSNP gnomAD v4 |
| X | g.154534349G>C | CA519305260 | G6PD | c.633C>G (p.Leu211=) c.636C>G (p.Leu212=) c.496C>G c.499C>G c.513C>G (p.Leu171=) c.*475C>G (n.*475C>G) c.723C>G (p.Leu241=) c.726C>G (p.Leu242=) | ClinVar dbSNP gnomAD v4 |
| X | g.154534349G= | CA2466724131 | G6PD | c.633C= (p.Leu211=) c.636C= (p.Leu212=) c.496C= c.499C= c.513C= (p.Leu171=) c.*475C= (n.*475C=) c.723C= (p.Leu241=) c.726C= (p.Leu242=) | |
| X | g.154534349G>T | CA519305261 | G6PD | c.633C>A (p.Leu211=) c.636C>A (p.Leu212=) c.496C>A c.499C>A c.513C>A (p.Leu171=) c.*475C>A (n.*475C>A) c.723C>A (p.Leu241=) c.726C>A (p.Leu242=) | dbSNP |
| X | g.154534350A>C | CA415237069 | G6PD | c.632T>G (p.Leu211Arg) c.635T>G (p.Leu212Arg) c.495T>G c.498T>G c.512T>G (p.Leu171Arg) c.*474T>G (n.*474T>G) c.722T>G (p.Leu241Arg) c.725T>G (p.Leu242Arg) | |
| X | g.154534350A>G | CA415237071 | G6PD | c.632T>C (p.Leu211Pro) c.635T>C (p.Leu212Pro) c.495T>C c.498T>C c.512T>C (p.Leu171Pro) c.*474T>C (n.*474T>C) c.722T>C (p.Leu241Pro) c.725T>C (p.Leu242Pro) | |
| X | g.154534350A>T | CA415237072 | G6PD | c.632T>A (p.Leu211His) c.635T>A (p.Leu212His) c.495T>A c.498T>A c.512T>A (p.Leu171His) c.*474T>A (n.*474T>A) c.722T>A (p.Leu241His) c.725T>A (p.Leu242His) | |
| X | g.154534351G>A | CA415237705 | G6PD | c.631C>T (p.Leu211Phe) c.634C>T (p.Leu212Phe) c.494C>T c.497C>T c.511C>T (p.Leu171Phe) c.*473C>T (n.*473C>T) c.721C>T (p.Leu241Phe) c.724C>T (p.Leu242Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154534351G>C | CA415237707 | G6PD | c.631C>G (p.Leu211Val) c.634C>G (p.Leu212Val) c.494C>G c.497C>G c.511C>G (p.Leu171Val) c.*473C>G (n.*473C>G) c.721C>G (p.Leu241Val) c.724C>G (p.Leu242Val) | |
| X | g.154534351G= | CA2466724132 | G6PD | c.631C= (p.Leu211=) c.634C= (p.Leu212=) c.494C= c.497C= c.511C= (p.Leu171=) c.*473C= (n.*473C=) c.721C= (p.Leu241=) c.724C= (p.Leu242=) | |
| X | g.154534351G>T | CA415237708 | G6PD | c.631C>A (p.Leu211Ile) c.634C>A (p.Leu212Ile) c.494C>A c.497C>A c.511C>A (p.Leu171Ile) c.*473C>A (n.*473C>A) c.721C>A (p.Leu241Ile) c.724C>A (p.Leu242Ile) | dbSNP |
| X | g.154534352G>A | CA519305580 | G6PD | c.630C>T (p.Asn210=) c.633C>T (p.Asn211=) c.493C>T c.496C>T c.510C>T (p.Asn170=) c.*472C>T (n.*472C>T) c.720C>T (p.Asn240=) c.723C>T (p.Asn241=) | |
| X | g.154534352G>C | CA415237711 | G6PD | c.630C>G (p.Asn210Lys) c.633C>G (p.Asn211Lys) c.493C>G c.496C>G c.510C>G (p.Asn170Lys) c.*472C>G (n.*472C>G) c.720C>G (p.Asn240Lys) c.723C>G (p.Asn241Lys) | |
| X | g.154534352G>T | CA415237710 | G6PD | c.630C>A (p.Asn210Lys) c.633C>A (p.Asn211Lys) c.493C>A c.496C>A c.510C>A (p.Asn170Lys) c.*472C>A (n.*472C>A) c.720C>A (p.Asn240Lys) c.723C>A (p.Asn241Lys) | |
| X | g.154534353T>A | CA415237713 | G6PD | c.629A>T (p.Asn210Ile) c.632A>T (p.Asn211Ile) c.492A>T c.495A>T c.509A>T (p.Asn170Ile) c.*471A>T (n.*471A>T) c.719A>T (p.Asn240Ile) c.722A>T (p.Asn241Ile) | |
| X | g.154534353T>C | CA415237715 | G6PD | c.629A>G (p.Asn210Ser) c.632A>G (p.Asn211Ser) c.492A>G c.495A>G c.509A>G (p.Asn170Ser) c.*471A>G (n.*471A>G) c.719A>G (p.Asn240Ser) c.722A>G (p.Asn241Ser) | dbSNP |
| X | g.154534353T>G | CA415237717 | G6PD | c.629A>C (p.Asn210Thr) c.632A>C (p.Asn211Thr) c.492A>C c.495A>C c.509A>C (p.Asn170Thr) c.*471A>C (n.*471A>C) c.719A>C (p.Asn240Thr) c.722A>C (p.Asn241Thr) | |
| X | g.154534353T= | CA2466724133 | G6PD | c.629A= (p.Asn210=) c.632A= (p.Asn211=) c.492A= c.495A= c.509A= (p.Asn170=) c.*471A= (n.*471A=) c.719A= (p.Asn240=) c.722A= (p.Asn241=) | |
| X | g.154534354T>A | CA415237719 | G6PD | c.628A>T (p.Asn210Tyr) c.631A>T (p.Asn211Tyr) c.491A>T c.494A>T c.508A>T (p.Asn170Tyr) c.*470A>T (n.*470A>T) c.718A>T (p.Asn240Tyr) c.721A>T (p.Asn241Tyr) | |
| X | g.154534354T>C | CA415237721 | G6PD | c.628A>G (p.Asn210Asp) c.631A>G (p.Asn211Asp) c.491A>G c.494A>G c.508A>G (p.Asn170Asp) c.*470A>G (n.*470A>G) c.718A>G (p.Asn240Asp) c.721A>G (p.Asn241Asp) | ClinVar dbSNP |
| X | g.154534354T>G | CA415237723 | G6PD | c.628A>C (p.Asn210His) c.631A>C (p.Asn211His) c.491A>C c.494A>C c.508A>C (p.Asn170His) c.*470A>C (n.*470A>C) c.718A>C (p.Asn240His) c.721A>C (p.Asn241His) | |
| X | g.154534355C>A | CA415237724 | G6PD | c.627G>T (p.Gln209His) c.630G>T (p.Gln210His) c.490G>T c.493G>T c.507G>T (p.Gln169His) c.*469G>T (n.*469G>T) c.717G>T (p.Gln239His) c.720G>T (p.Gln240His) | dbSNP |
| X | g.154534355C= | CA2466724134 | G6PD | c.627G= (p.Gln209=) c.630G= (p.Gln210=) c.490G= c.493G= c.507G= (p.Gln169=) c.*469G= (n.*469G=) c.717G= (p.Gln239=) c.720G= (p.Gln240=) | |
| X | g.154534355C>G | CA415237725 | G6PD | c.627G>C (p.Gln209His) c.630G>C (p.Gln210His) c.490G>C c.493G>C c.507G>C (p.Gln169His) c.*469G>C (n.*469G>C) c.717G>C (p.Gln239His) c.720G>C (p.Gln240His) | |
| X | g.154534355C>T | CA519305590 | G6PD | c.627G>A (p.Gln209=) c.630G>A (p.Gln210=) c.490G>A c.493G>A c.507G>A (p.Gln169=) c.*469G>A (n.*469G>A) c.717G>A (p.Gln239=) c.720G>A (p.Gln240=) | dbSNP |
| X | g.154534356T>A | CA415237726 | G6PD | c.626A>T (p.Gln209Leu) c.629A>T (p.Gln210Leu) c.489A>T c.492A>T c.506A>T (p.Gln169Leu) c.*468A>T (n.*468A>T) c.716A>T (p.Gln239Leu) c.719A>T (p.Gln240Leu) | |
| X | g.154534356T>C | CA415237727 | G6PD | c.626A>G (p.Gln209Arg) c.629A>G (p.Gln210Arg) c.489A>G c.492A>G c.506A>G (p.Gln169Arg) c.*468A>G (n.*468A>G) c.716A>G (p.Gln239Arg) c.719A>G (p.Gln240Arg) | |
| X | g.154534356T>G | CA415237729 | G6PD | c.626A>C (p.Gln209Pro) c.629A>C (p.Gln210Pro) c.489A>C c.492A>C c.506A>C (p.Gln169Pro) c.*468A>C (n.*468A>C) c.716A>C (p.Gln239Pro) c.719A>C (p.Gln240Pro) | |
| X | g.154534357G>A | CA415237733 | G6PD | c.625C>T (p.Gln209Ter) c.628C>T (p.Gln210Ter) c.488C>T c.491C>T c.505C>T (p.Gln169Ter) c.*467C>T (n.*467C>T) c.715C>T (p.Gln239Ter) c.718C>T (p.Gln240Ter) | |
| X | g.154534357G>C | CA415237734 | G6PD | c.625C>G (p.Gln209Glu) c.628C>G (p.Gln210Glu) c.488C>G c.491C>G c.505C>G (p.Gln169Glu) c.*467C>G (n.*467C>G) c.715C>G (p.Gln239Glu) c.718C>G (p.Gln240Glu) | |
| X | g.154534357G>T | CA415237731 | G6PD | c.625C>A (p.Gln209Lys) c.628C>A (p.Gln210Lys) c.488C>A c.491C>A c.505C>A (p.Gln169Lys) c.*467C>A (n.*467C>A) c.715C>A (p.Gln239Lys) c.718C>A (p.Gln240Lys) | |
| X | g.154534358C>A | CA519305599 | G6PD | c.624G>T (p.Val208=) c.627G>T (p.Val209=) c.487G>T c.490G>T c.504G>T (p.Val168=) c.*466G>T (n.*466G>T) c.714G>T (p.Val238=) c.717G>T (p.Val239=) | dbSNP |
| X | g.154534358C= | CA2466724135 | G6PD | c.624G= (p.Val208=) c.627G= (p.Val209=) c.487G= c.490G= c.504G= (p.Val168=) c.*466G= (n.*466G=) c.714G= (p.Val238=) c.717G= (p.Val239=) | |
| X | g.154534358C>G | CA519305601 | G6PD | c.624G>C (p.Val208=) c.627G>C (p.Val209=) c.487G>C c.490G>C c.504G>C (p.Val168=) c.*466G>C (n.*466G>C) c.714G>C (p.Val238=) c.717G>C (p.Val239=) | |
| X | g.154534358C>T | CA519305598 | G6PD | c.624G>A (p.Val208=) c.627G>A (p.Val209=) c.487G>A c.490G>A c.504G>A (p.Val168=) c.*466G>A (n.*466G>A) c.714G>A (p.Val238=) c.717G>A (p.Val239=) | dbSNP gnomAD v4 |
| X | g.154534359A>C | CA415237735 | G6PD | c.623T>G (p.Val208Gly) c.626T>G (p.Val209Gly) c.486T>G c.489T>G c.503T>G (p.Val168Gly) c.*465T>G (n.*465T>G) c.713T>G (p.Val238Gly) c.716T>G (p.Val239Gly) | |
| X | g.154534359A>G | CA415237737 | G6PD | c.623T>C (p.Val208Ala) c.626T>C (p.Val209Ala) c.486T>C c.489T>C c.503T>C (p.Val168Ala) c.*465T>C (n.*465T>C) c.713T>C (p.Val238Ala) c.716T>C (p.Val239Ala) | |
| X | g.154534359A>T | CA415237738 | G6PD | c.623T>A (p.Val208Glu) c.626T>A (p.Val209Glu) c.486T>A c.489T>A c.503T>A (p.Val168Glu) c.*465T>A (n.*465T>A) c.713T>A (p.Val238Glu) c.716T>A (p.Val239Glu) | |
| X | g.154534360C>A | CA415237740 | G6PD | c.622G>T (p.Val208Leu) c.625G>T (p.Val209Leu) c.485G>T c.488G>T c.502G>T (p.Val168Leu) c.*464G>T (n.*464G>T) c.712G>T (p.Val238Leu) c.715G>T (p.Val239Leu) | |
| X | g.154534360C>G | CA415237742 | G6PD | c.622G>C (p.Val208Leu) c.625G>C (p.Val209Leu) c.485G>C c.488G>C c.502G>C (p.Val168Leu) c.*464G>C (n.*464G>C) c.712G>C (p.Val238Leu) c.715G>C (p.Val239Leu) | |
| X | g.154534360C>T | CA415237743 | G6PD | c.622G>A (p.Val208Met) c.625G>A (p.Val209Met) c.485G>A c.488G>A c.502G>A (p.Val168Met) c.*464G>A (n.*464G>A) c.712G>A (p.Val238Met) c.715G>A (p.Val239Met) | |
| X | g.154534361C>A | CA415237745 | G6PD | c.621G>T (p.Met207Ile) c.624G>T (p.Met208Ile) c.484G>T c.487G>T c.501G>T (p.Met167Ile) c.*463G>T (n.*463G>T) c.711G>T (p.Met237Ile) c.714G>T (p.Met238Ile) | |
| X | g.154534361C= | CA2466724136 | G6PD | c.621G= (p.Met207=) c.624G= (p.Met208=) c.484G= c.487G= c.501G= (p.Met167=) c.*463G= (n.*463G=) c.711G= (p.Met237=) c.714G= (p.Met238=) | |
| X | g.154534361C>G | CA415237746 | G6PD | c.621G>C (p.Met207Ile) c.624G>C (p.Met208Ile) c.484G>C c.487G>C c.501G>C (p.Met167Ile) c.*463G>C (n.*463G>C) c.711G>C (p.Met237Ile) c.714G>C (p.Met238Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534361C>T | CA415237748 | G6PD | c.621G>A (p.Met207Ile) c.624G>A (p.Met208Ile) c.484G>A c.487G>A c.501G>A (p.Met167Ile) c.*463G>A (n.*463G>A) c.711G>A (p.Met237Ile) c.714G>A (p.Met238Ile) | |
| X | g.154534362A= | CA2466724137 | G6PD | c.620T= (p.Met207=) c.623T= (p.Met208=) c.483T= c.486T= c.500T= (p.Met167=) c.*462T= (n.*462T=) c.710T= (p.Met237=) c.713T= (p.Met238=) | |
| X | g.154534362A>C | CA415237749 | G6PD | c.620T>G (p.Met207Arg) c.623T>G (p.Met208Arg) c.483T>G c.486T>G c.500T>G (p.Met167Arg) c.*462T>G (n.*462T>G) c.710T>G (p.Met237Arg) c.713T>G (p.Met238Arg) | |
| X | g.154534362A>G | CA415237751 | G6PD | c.620T>C (p.Met207Thr) c.623T>C (p.Met208Thr) c.483T>C c.486T>C c.500T>C (p.Met167Thr) c.*462T>C (n.*462T>C) c.710T>C (p.Met237Thr) c.713T>C (p.Met238Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534362A>T | CA415237752 | G6PD | c.620T>A (p.Met207Lys) c.623T>A (p.Met208Lys) c.483T>A c.486T>A c.500T>A (p.Met167Lys) c.*462T>A (n.*462T>A) c.710T>A (p.Met237Lys) c.713T>A (p.Met238Lys) | |
| X | g.154534363T>A | CA415237756 | G6PD | c.619A>T (p.Met207Leu) c.622A>T (p.Met208Leu) c.482A>T c.485A>T c.499A>T (p.Met167Leu) c.*461A>T (n.*461A>T) c.709A>T (p.Met237Leu) c.712A>T (p.Met238Leu) | dbSNP |
| X | g.154534363T>C | CA415237753 | G6PD | c.619A>G (p.Met207Val) c.622A>G (p.Met208Val) c.482A>G c.485A>G c.499A>G (p.Met167Val) c.*461A>G (n.*461A>G) c.709A>G (p.Met237Val) c.712A>G (p.Met238Val) | |
| X | g.154534363T>G | CA415237755 | G6PD | c.619A>C (p.Met207Leu) c.622A>C (p.Met208Leu) c.482A>C c.485A>C c.499A>C (p.Met167Leu) c.*461A>C (n.*461A>C) c.709A>C (p.Met237Leu) c.712A>C (p.Met238Leu) | |
| X | g.154534363T= | CA2466724138 | G6PD | c.619A= (p.Met207=) c.622A= (p.Met208=) c.482A= c.485A= c.499A= (p.Met167=) c.*461A= (n.*461A=) c.709A= (p.Met237=) c.712A= (p.Met238=) | |
| X | g.154534364C>A | CA415237758 | G6PD | c.618G>T (p.Glu206Asp) c.621G>T (p.Glu207Asp) c.481G>T c.484G>T c.498G>T (p.Glu166Asp) c.*460G>T (n.*460G>T) c.708G>T (p.Glu236Asp) c.711G>T (p.Glu237Asp) | |
| X | g.154534364C= | CA2466724139 | G6PD | c.618G= (p.Glu206=) c.621G= (p.Glu207=) c.481G= c.484G= c.498G= (p.Glu166=) c.*460G= (n.*460G=) c.708G= (p.Glu236=) c.711G= (p.Glu237=) | |
| X | g.154534364C>G | CA415237759 | G6PD | c.618G>C (p.Glu206Asp) c.621G>C (p.Glu207Asp) c.481G>C c.484G>C c.498G>C (p.Glu166Asp) c.*460G>C (n.*460G>C) c.708G>C (p.Glu236Asp) c.711G>C (p.Glu237Asp) | |
| X | g.154534364C>T | CA519305616 | G6PD | c.618G>A (p.Glu206=) c.621G>A (p.Glu207=) c.481G>A c.484G>A c.498G>A (p.Glu166=) c.*460G>A (n.*460G>A) c.708G>A (p.Glu236=) c.711G>A (p.Glu237=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534365T>A | CA415237761 | G6PD | c.617A>T (p.Glu206Val) c.620A>T (p.Glu207Val) c.480A>T c.483A>T c.497A>T (p.Glu166Val) c.*459A>T (n.*459A>T) c.707A>T (p.Glu236Val) c.710A>T (p.Glu237Val) | |
| X | g.154534365T>C | CA415237762 | G6PD | c.617A>G (p.Glu206Gly) c.620A>G (p.Glu207Gly) c.480A>G c.483A>G c.497A>G (p.Glu166Gly) c.*459A>G (n.*459A>G) c.707A>G (p.Glu236Gly) c.710A>G (p.Glu237Gly) | |
| X | g.154534365T>G | CA415237764 | G6PD | c.617A>C (p.Glu206Ala) c.620A>C (p.Glu207Ala) c.480A>C c.483A>C c.497A>C (p.Glu166Ala) c.*459A>C (n.*459A>C) c.707A>C (p.Glu236Ala) c.710A>C (p.Glu237Ala) | |
| X | g.154534366C>A | CA415237766 | G6PD | c.616G>T (p.Glu206Ter) c.619G>T (p.Glu207Ter) c.479G>T c.482G>T c.496G>T (p.Glu166Ter) c.*458G>T (n.*458G>T) c.706G>T (p.Glu236Ter) c.709G>T (p.Glu237Ter) | |
| X | g.154534366C>G | CA415237767 | G6PD | c.616G>C (p.Glu206Gln) c.619G>C (p.Glu207Gln) c.479G>C c.482G>C c.496G>C (p.Glu166Gln) c.*458G>C (n.*458G>C) c.706G>C (p.Glu236Gln) c.709G>C (p.Glu237Gln) | |
| X | g.154534366C>T | CA415237769 | G6PD | c.616G>A (p.Glu206Lys) c.619G>A (p.Glu207Lys) c.479G>A c.482G>A c.496G>A (p.Glu166Lys) c.*458G>A (n.*458G>A) c.706G>A (p.Glu236Lys) c.709G>A (p.Glu237Lys) | |
| X | g.154534367C>A | CA415237771 | G6PD | c.615G>T (p.Lys205Asn) c.618G>T (p.Lys206Asn) c.478G>T c.481G>T c.495G>T (p.Lys165Asn) c.*457G>T (n.*457G>T) c.705G>T (p.Lys235Asn) c.708G>T (p.Lys236Asn) | |
| X | g.154534367C= | CA2466724140 | G6PD | c.615G= (p.Lys205=) c.618G= (p.Lys206=) c.478G= c.481G= c.495G= (p.Lys165=) c.*457G= (n.*457G=) c.705G= (p.Lys235=) c.708G= (p.Lys236=) | |
| X | g.154534367C>G | CA415237772 | G6PD | c.615G>C (p.Lys205Asn) c.618G>C (p.Lys206Asn) c.478G>C c.481G>C c.495G>C (p.Lys165Asn) c.*457G>C (n.*457G>C) c.705G>C (p.Lys235Asn) c.708G>C (p.Lys236Asn) | |
| X | g.154534367C>T | CA519305626 | G6PD | c.615G>A (p.Lys205=) c.618G>A (p.Lys206=) c.478G>A c.481G>A c.495G>A (p.Lys165=) c.*457G>A (n.*457G>A) c.705G>A (p.Lys235=) c.708G>A (p.Lys236=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534368T>A | CA415237773 | G6PD | c.614A>T (p.Lys205Met) c.617A>T (p.Lys206Met) c.477A>T c.480A>T c.494A>T (p.Lys165Met) c.*456A>T (n.*456A>T) c.704A>T (p.Lys235Met) c.707A>T (p.Lys236Met) | |
| X | g.154534368T>C | CA415237774 | G6PD | c.614A>G (p.Lys205Arg) c.617A>G (p.Lys206Arg) c.477A>G c.480A>G c.494A>G (p.Lys165Arg) c.*456A>G (n.*456A>G) c.704A>G (p.Lys235Arg) c.707A>G (p.Lys236Arg) | gnomAD v4 |
| X | g.154534368T>G | CA415237775 | G6PD | c.614A>C (p.Lys205Thr) c.617A>C (p.Lys206Thr) c.477A>C c.480A>C c.494A>C (p.Lys165Thr) c.*456A>C (n.*456A>C) c.704A>C (p.Lys235Thr) c.707A>C (p.Lys236Thr) | |
| X | g.154534369T>A | CA415237777 | G6PD | c.613A>T (p.Lys205Ter) c.616A>T (p.Lys206Ter) c.476A>T c.479A>T c.493A>T (p.Lys165Ter) c.*455A>T (n.*455A>T) c.703A>T (p.Lys235Ter) c.706A>T (p.Lys236Ter) | |
| X | g.154534369T>C | CA415237779 | G6PD | c.613A>G (p.Lys205Glu) c.616A>G (p.Lys206Glu) c.476A>G c.479A>G c.493A>G (p.Lys165Glu) c.*455A>G (n.*455A>G) c.703A>G (p.Lys235Glu) c.706A>G (p.Lys236Glu) | |
| X | g.154534369T>G | CA415237776 | G6PD | c.613A>C (p.Lys205Gln) c.616A>C (p.Lys206Gln) c.476A>C c.479A>C c.493A>C (p.Lys165Gln) c.*455A>C (n.*455A>C) c.703A>C (p.Lys235Gln) c.706A>C (p.Lys236Gln) | |
| X | g.154534370G>A | CA519305632 | G6PD | c.612C>T (p.Gly204=) c.615C>T (p.Gly205=) c.475C>T c.478C>T c.492C>T (p.Gly164=) c.*454C>T (n.*454C>T) c.702C>T (p.Gly234=) c.705C>T (p.Gly235=) | dbSNP |
| X | g.154534370G>C | CA519305633 | G6PD | c.612C>G (p.Gly204=) c.615C>G (p.Gly205=) c.475C>G c.478C>G c.492C>G (p.Gly164=) c.*454C>G (n.*454C>G) c.702C>G (p.Gly234=) c.705C>G (p.Gly235=) | |
| X | g.154534370G= | CA2466724141 | G6PD | c.612C= (p.Gly204=) c.615C= (p.Gly205=) c.475C= c.478C= c.492C= (p.Gly164=) c.*454C= (n.*454C=) c.702C= (p.Gly234=) c.705C= (p.Gly235=) | |
| X | g.154534370G>T | CA519305635 | G6PD | c.612C>A (p.Gly204=) c.615C>A (p.Gly205=) c.475C>A c.478C>A c.492C>A (p.Gly164=) c.*454C>A (n.*454C>A) c.702C>A (p.Gly234=) c.705C>A (p.Gly235=) | |
| X | g.154534371C>A | CA415237780 | G6PD | c.611G>T (p.Gly204Val) c.614G>T (p.Gly205Val) c.474G>T c.477G>T c.491G>T (p.Gly164Val) c.*453G>T (n.*453G>T) c.701G>T (p.Gly234Val) c.704G>T (p.Gly235Val) | |
| X | g.154534371C>G | CA415237782 | G6PD | c.611G>C (p.Gly204Ala) c.614G>C (p.Gly205Ala) c.474G>C c.477G>C c.491G>C (p.Gly164Ala) c.*453G>C (n.*453G>C) c.701G>C (p.Gly234Ala) c.704G>C (p.Gly235Ala) | |
| X | g.154534371C>T | CA415237781 | G6PD | c.611G>A (p.Gly204Asp) c.614G>A (p.Gly205Asp) c.474G>A c.477G>A c.491G>A (p.Gly164Asp) c.*453G>A (n.*453G>A) c.701G>A (p.Gly234Asp) c.704G>A (p.Gly235Asp) | ClinVar dbSNP |
| X | g.154534372C>A | CA415237785 | G6PD | c.610G>T (p.Gly204Cys) c.613G>T (p.Gly205Cys) c.473G>T c.476G>T c.490G>T (p.Gly164Cys) c.*452G>T (n.*452G>T) c.700G>T (p.Gly234Cys) c.703G>T (p.Gly235Cys) | |
| X | g.154534372C>G | CA415237788 | G6PD | c.610G>C (p.Gly204Arg) c.613G>C (p.Gly205Arg) c.473G>C c.476G>C c.490G>C (p.Gly164Arg) c.*452G>C (n.*452G>C) c.700G>C (p.Gly234Arg) c.703G>C (p.Gly235Arg) | |
| X | g.154534372C>T | CA415237787 | G6PD | c.610G>A (p.Gly204Ser) c.613G>A (p.Gly205Ser) c.473G>A c.476G>A c.490G>A (p.Gly164Ser) c.*452G>A (n.*452G>A) c.700G>A (p.Gly234Ser) c.703G>A (p.Gly235Ser) | |
| X | g.154534373C>A | CA519305644 | G6PD | c.609G>T (p.Leu203=) c.612G>T (p.Leu204=) c.472G>T c.475G>T c.489G>T (p.Leu163=) c.*451G>T (n.*451G>T) c.699G>T (p.Leu233=) c.702G>T (p.Leu234=) | |
| X | g.154534373C= | CA2466724142 | G6PD | c.609G= (p.Leu203=) c.612G= (p.Leu204=) c.472G= c.475G= c.489G= (p.Leu163=) c.*451G= (n.*451G=) c.699G= (p.Leu233=) c.702G= (p.Leu234=) | |
| X | g.154534373C>G | CA519305645 | G6PD | c.609G>C (p.Leu203=) c.612G>C (p.Leu204=) c.472G>C c.475G>C c.489G>C (p.Leu163=) c.*451G>C (n.*451G>C) c.699G>C (p.Leu233=) c.702G>C (p.Leu234=) | dbSNP |
| X | g.154534373C>T | CA519305646 | G6PD | c.609G>A (p.Leu203=) c.612G>A (p.Leu204=) c.472G>A c.475G>A c.489G>A (p.Leu163=) c.*451G>A (n.*451G>A) c.699G>A (p.Leu233=) c.702G>A (p.Leu234=) | |
| X | g.154534374A>C | CA415237789 | G6PD | c.608T>G (p.Leu203Arg) c.611T>G (p.Leu204Arg) c.471T>G c.474T>G c.488T>G (p.Leu163Arg) c.*450T>G (n.*450T>G) c.698T>G (p.Leu233Arg) c.701T>G (p.Leu234Arg) | |
| X | g.154534374A>G | CA415237793 | G6PD | c.608T>C (p.Leu203Pro) c.611T>C (p.Leu204Pro) c.471T>C c.474T>C c.488T>C (p.Leu163Pro) c.*450T>C (n.*450T>C) c.698T>C (p.Leu233Pro) c.701T>C (p.Leu234Pro) | |
| X | g.154534374A>T | CA415237791 | G6PD | c.608T>A (p.Leu203Gln) c.611T>A (p.Leu204Gln) c.471T>A c.474T>A c.488T>A (p.Leu163Gln) c.*450T>A (n.*450T>A) c.698T>A (p.Leu233Gln) c.701T>A (p.Leu234Gln) | |
| X | g.154534375G>A | CA519305652 | G6PD | c.607C>T (p.Leu203=) c.610C>T (p.Leu204=) c.470C>T c.473C>T c.487C>T (p.Leu163=) c.*449C>T (n.*449C>T) c.697C>T (p.Leu233=) c.700C>T (p.Leu234=) | |
| X | g.154534375G>C | CA415237794 | G6PD | c.607C>G (p.Leu203Val) c.610C>G (p.Leu204Val) c.470C>G c.473C>G c.487C>G (p.Leu163Val) c.*449C>G (n.*449C>G) c.697C>G (p.Leu233Val) c.700C>G (p.Leu234Val) | |
| X | g.154534375G>T | CA415237795 | G6PD | c.607C>A (p.Leu203Met) c.610C>A (p.Leu204Met) c.470C>A c.473C>A c.487C>A (p.Leu163Met) c.*449C>A (n.*449C>A) c.697C>A (p.Leu233Met) c.700C>A (p.Leu234Met) | |
| X | g.154534376G>A | CA519305655 | G6PD | c.606C>T (p.Tyr202=) c.609C>T (p.Tyr203=) c.469C>T c.472C>T c.486C>T (p.Tyr162=) c.*448C>T (n.*448C>T) c.696C>T (p.Tyr232=) c.699C>T (p.Tyr233=) | ClinVar dbSNP |
| X | g.154534376G>C | CA415237797 | G6PD | c.606C>G (p.Tyr202Ter) c.609C>G (p.Tyr203Ter) c.469C>G c.472C>G c.486C>G (p.Tyr162Ter) c.*448C>G (n.*448C>G) c.696C>G (p.Tyr232Ter) c.699C>G (p.Tyr233Ter) | |
| X | g.154534376G= | CA2466724143 | G6PD | c.606C= (p.Tyr202=) c.609C= (p.Tyr203=) c.469C= c.472C= c.486C= (p.Tyr162=) c.*448C= (n.*448C=) c.696C= (p.Tyr232=) c.699C= (p.Tyr233=) | |
| X | g.154534376G>T | CA415237799 | G6PD | c.606C>A (p.Tyr202Ter) c.609C>A (p.Tyr203Ter) c.469C>A c.472C>A c.486C>A (p.Tyr162Ter) c.*448C>A (n.*448C>A) c.696C>A (p.Tyr232Ter) c.699C>A (p.Tyr233Ter) | |
| X | g.154534377T>A | CA415237801 | G6PD | c.605A>T (p.Tyr202Phe) c.608A>T (p.Tyr203Phe) c.468A>T c.471A>T c.485A>T (p.Tyr162Phe) c.*447A>T (n.*447A>T) c.695A>T (p.Tyr232Phe) c.698A>T (p.Tyr233Phe) | |
| X | g.154534377T>C | CA415237802 | G6PD | c.605A>G (p.Tyr202Cys) c.608A>G (p.Tyr203Cys) c.468A>G c.471A>G c.485A>G (p.Tyr162Cys) c.*447A>G (n.*447A>G) c.695A>G (p.Tyr232Cys) c.698A>G (p.Tyr233Cys) | |
| X | g.154534377T>G | CA415237804 | G6PD | c.605A>C (p.Tyr202Ser) c.608A>C (p.Tyr203Ser) c.468A>C c.471A>C c.485A>C (p.Tyr162Ser) c.*447A>C (n.*447A>C) c.695A>C (p.Tyr232Ser) c.698A>C (p.Tyr233Ser) | |
| X | g.154534378A>C | CA415237806 | G6PD | c.604T>G (p.Tyr202Asp) c.607T>G (p.Tyr203Asp) c.467T>G c.470T>G c.484T>G (p.Tyr162Asp) c.*446T>G (n.*446T>G) c.694T>G (p.Tyr232Asp) c.697T>G (p.Tyr233Asp) | |
| X | g.154534378A>G | CA415237808 | G6PD | c.604T>C (p.Tyr202His) c.607T>C (p.Tyr203His) c.467T>C c.470T>C c.484T>C (p.Tyr162His) c.*446T>C (n.*446T>C) c.694T>C (p.Tyr232His) c.697T>C (p.Tyr233His) | |
| X | g.154534378A>T | CA415237809 | G6PD | c.604T>A (p.Tyr202Asn) c.607T>A (p.Tyr203Asn) c.467T>A c.470T>A c.484T>A (p.Tyr162Asn) c.*446T>A (n.*446T>A) c.694T>A (p.Tyr232Asn) c.697T>A (p.Tyr233Asn) | |
| X | g.154534379G>A | CA519305664 | G6PD | c.603C>T (p.His201=) c.606C>T (p.His202=) c.466C>T c.469C>T c.483C>T (p.His161=) c.*445C>T (n.*445C>T) c.693C>T (p.His231=) c.696C>T (p.His232=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534379G>C | CA415237810 | G6PD | c.603C>G (p.His201Gln) c.606C>G (p.His202Gln) c.466C>G c.469C>G c.483C>G (p.His161Gln) c.*445C>G (n.*445C>G) c.693C>G (p.His231Gln) c.696C>G (p.His232Gln) | |
| X | g.154534379G= | CA2466724144 | G6PD | c.603C= (p.His201=) c.606C= (p.His202=) c.466C= c.469C= c.483C= (p.His161=) c.*445C= (n.*445C=) c.693C= (p.His231=) c.696C= (p.His232=) | |
| X | g.154534379G>T | CA415237812 | G6PD | c.603C>A (p.His201Gln) c.606C>A (p.His202Gln) c.466C>A c.469C>A c.483C>A (p.His161Gln) c.*445C>A (n.*445C>A) c.693C>A (p.His231Gln) c.696C>A (p.His232Gln) | |
| X | g.154534380T>A | CA415237814 | G6PD | c.602A>T (p.His201Leu) c.605A>T (p.His202Leu) c.465A>T c.468A>T c.482A>T (p.His161Leu) c.*444A>T (n.*444A>T) c.692A>T (p.His231Leu) c.695A>T (p.His232Leu) | |
| X | g.154534380T>C | CA415237817 | G6PD | c.602A>G (p.His201Arg) c.605A>G (p.His202Arg) c.465A>G c.468A>G c.482A>G (p.His161Arg) c.*444A>G (n.*444A>G) c.692A>G (p.His231Arg) c.695A>G (p.His232Arg) | |
| X | g.154534380T>G | CA415237816 | G6PD | c.602A>C (p.His201Pro) c.605A>C (p.His202Pro) c.465A>C c.468A>C c.482A>C (p.His161Pro) c.*444A>C (n.*444A>C) c.692A>C (p.His231Pro) c.695A>C (p.His232Pro) | |
| X | g.154534381G>A | CA415237819 | G6PD | c.601C>T (p.His201Tyr) c.604C>T (p.His202Tyr) c.464C>T c.467C>T c.481C>T (p.His161Tyr) c.*443C>T (n.*443C>T) c.691C>T (p.His231Tyr) c.694C>T (p.His232Tyr) | |
| X | g.154534381G>C | CA415237821 | G6PD | c.601C>G (p.His201Asp) c.604C>G (p.His202Asp) c.464C>G c.467C>G c.481C>G (p.His161Asp) c.*443C>G (n.*443C>G) c.691C>G (p.His231Asp) c.694C>G (p.His232Asp) | |
| X | g.154534381G>T | CA415237822 | G6PD | c.601C>A (p.His201Asn) c.604C>A (p.His202Asn) c.464C>A c.467C>A c.481C>A (p.His161Asn) c.*443C>A (n.*443C>A) c.691C>A (p.His231Asn) c.694C>A (p.His232Asn) | |
| X | g.154534382G>A | CA519305672 | G6PD | c.600C>T (p.Asp200=) c.603C>T (p.Asp201=) c.463C>T c.466C>T c.480C>T (p.Asp160=) c.*442C>T (n.*442C>T) c.690C>T (p.Asp230=) c.693C>T (p.Asp231=) | dbSNP |
| X | g.154534382G>C | CA415237823 | G6PD | c.600C>G (p.Asp200Glu) c.603C>G (p.Asp201Glu) c.463C>G c.466C>G c.480C>G (p.Asp160Glu) c.*442C>G (n.*442C>G) c.690C>G (p.Asp230Glu) c.693C>G (p.Asp231Glu) | |
| X | g.154534382G= | CA2466724145 | G6PD | c.600C= (p.Asp200=) c.603C= (p.Asp201=) c.463C= c.466C= c.480C= (p.Asp160=) c.*442C= (n.*442C=) c.690C= (p.Asp230=) c.693C= (p.Asp231=) | |
| X | g.154534382G>T | CA415237824 | G6PD | c.600C>A (p.Asp200Glu) c.603C>A (p.Asp201Glu) c.463C>A c.466C>A c.480C>A (p.Asp160Glu) c.*442C>A (n.*442C>A) c.690C>A (p.Asp230Glu) c.693C>A (p.Asp231Glu) | |
| X | g.154534383T>A | CA415237825 | G6PD | c.599A>T (p.Asp200Val) c.602A>T (p.Asp201Val) c.462A>T c.465A>T c.479A>T (p.Asp160Val) c.*441A>T (n.*441A>T) c.689A>T (p.Asp230Val) c.692A>T (p.Asp231Val) | |
| X | g.154534383T>C | CA415237826 | G6PD | c.599A>G (p.Asp200Gly) c.602A>G (p.Asp201Gly) c.462A>G c.465A>G c.479A>G (p.Asp160Gly) c.*441A>G (n.*441A>G) c.689A>G (p.Asp230Gly) c.692A>G (p.Asp231Gly) | |
| X | g.154534383T>G | CA415237827 | G6PD | c.599A>C (p.Asp200Ala) c.602A>C (p.Asp201Ala) c.462A>C c.465A>C c.479A>C (p.Asp160Ala) c.*441A>C (n.*441A>C) c.689A>C (p.Asp230Ala) c.692A>C (p.Asp231Ala) | |
| X | g.154534384C>A | CA415237831 | G6PD | c.598G>T (p.Asp200Tyr) c.601G>T (p.Asp201Tyr) c.461G>T c.464G>T c.478G>T (p.Asp160Tyr) c.*440G>T (n.*440G>T) c.688G>T (p.Asp230Tyr) c.691G>T (p.Asp231Tyr) | |
| X | g.154534384C= | CA2466724146 | G6PD | c.598G= (p.Asp200=) c.601G= (p.Asp201=) c.461G= c.464G= c.478G= (p.Asp160=) c.*440G= (n.*440G=) c.688G= (p.Asp230=) c.691G= (p.Asp231=) | |
| X | g.154534384C>G | CA415237830 | G6PD | c.598G>C (p.Asp200His) c.601G>C (p.Asp201His) c.461G>C c.464G>C c.478G>C (p.Asp160His) c.*440G>C (n.*440G>C) c.688G>C (p.Asp230His) c.691G>C (p.Asp231His) | |
| X | g.154534384C>T | CA10566207 | G6PD | c.598G>A (p.Asp200Asn) c.601G>A (p.Asp201Asn) c.461G>A c.464G>A c.478G>A (p.Asp160Asn) c.*440G>A (n.*440G>A) c.688G>A (p.Asp230Asn) c.691G>A (p.Asp231Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154534386_154534387insCCCGGAAGACGTCGTCGGGACGCACGA | CA2505071573 | G6PD | c.598_599insTGCGTCCCGACGACGTCTTCCGGGTCG (p.Ile199_Asp200insValArgProAspAspValPheArgVal) c.601_602insTGCGTCCCGACGACGTCTTCCGGGTCG (p.Ile200_Asp201insValArgProAspAspValPheArgVal) c.461_462insTGCGTCCCGACGACGTCTTCCGGGTCG c.464_465insTGCGTCCCGACGACGTCTTCCGGGTCG c.478_479insTGCGTCCCGACGACGTCTTCCGGGTCG (p.Ile159_Asp160insValArgProAspAspValPheArgVal) c.*440_*441insTGCGTCCCGACGACGTCTTCCGGGTCG (n.*440_*441insTGCGTCCCGACGACGTCTTCCGGGTCG) c.688_689insTGCGTCCCGACGACGTCTTCCGGGTCG (p.Ile229_Asp230insValArgProAspAspValPheArgVal) c.691_692insTGCGTCCCGACGACGTCTTCCGGGTCG (p.Ile230_Asp231insValArgProAspAspValPheArgVal) | |
| X | g.154534385G>A | CA337317512 | G6PD | c.597C>T (p.Ile199=) c.600C>T (p.Ile200=) c.460C>T c.463C>T c.477C>T (p.Ile159=) c.*439C>T (n.*439C>T) c.687C>T (p.Ile229=) c.690C>T (p.Ile230=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534385G>C | CA415237832 | G6PD | c.597C>G (p.Ile199Met) c.600C>G (p.Ile200Met) c.460C>G c.463C>G c.477C>G (p.Ile159Met) c.*439C>G (n.*439C>G) c.687C>G (p.Ile229Met) c.690C>G (p.Ile230Met) | |
| X | g.154534385G= | CA2466724147 | G6PD | c.597C= (p.Ile199=) c.600C= (p.Ile200=) c.460C= c.463C= c.477C= (p.Ile159=) c.*439C= (n.*439C=) c.687C= (p.Ile229=) c.690C= (p.Ile230=) | |
| X | g.154534385G>T | CA519305682 | G6PD | c.597C>A (p.Ile199=) c.600C>A (p.Ile200=) c.460C>A c.463C>A c.477C>A (p.Ile159=) c.*439C>A (n.*439C>A) c.687C>A (p.Ile229=) c.690C>A (p.Ile230=) | |
| X | g.154534386A>C | CA415237836 | G6PD | c.596T>G (p.Ile199Ser) c.599T>G (p.Ile200Ser) c.459T>G c.462T>G c.476T>G (p.Ile159Ser) c.*438T>G (n.*438T>G) c.686T>G (p.Ile229Ser) c.689T>G (p.Ile230Ser) | |
| X | g.154534386A>G | CA415237838 | G6PD | c.596T>C (p.Ile199Thr) c.599T>C (p.Ile200Thr) c.459T>C c.462T>C c.476T>C (p.Ile159Thr) c.*438T>C (n.*438T>C) c.686T>C (p.Ile229Thr) c.689T>C (p.Ile230Thr) | |
| X | g.154534386A>T | CA415237840 | G6PD | c.596T>A (p.Ile199Asn) c.599T>A (p.Ile200Asn) c.459T>A c.462T>A c.476T>A (p.Ile159Asn) c.*438T>A (n.*438T>A) c.686T>A (p.Ile229Asn) c.689T>A (p.Ile230Asn) | |
| X | g.154534387T>A | CA415237842 | G6PD | c.595A>T (p.Ile199Phe) c.598A>T (p.Ile200Phe) c.458A>T c.461A>T c.475A>T (p.Ile159Phe) c.*437A>T (n.*437A>T) c.685A>T (p.Ile229Phe) c.688A>T (p.Ile230Phe) | |
| X | g.154534387T>C | CA10566208 | G6PD | c.595A>G (p.Ile199Val) c.598A>G (p.Ile200Val) c.458A>G c.461A>G c.475A>G (p.Ile159Val) c.*437A>G (n.*437A>G) c.685A>G (p.Ile229Val) c.688A>G (p.Ile230Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534387T>G | CA415237844 | G6PD | c.595A>C (p.Ile199Leu) c.598A>C (p.Ile200Leu) c.458A>C c.461A>C c.475A>C (p.Ile159Leu) c.*437A>C (n.*437A>C) c.685A>C (p.Ile229Leu) c.688A>C (p.Ile230Leu) | |
| X | g.154534387T= | CA2466724148 | G6PD | c.595A= (p.Ile199=) c.598A= (p.Ile200=) c.458A= c.461A= c.475A= (p.Ile159=) c.*437A= (n.*437A=) c.685A= (p.Ile229=) c.688A= (p.Ile230=) | |
| X | g.154534387_154534388del | CA2514007500 | G6PD | c.594_595del (p.Ile199ArgfsTer?) c.597_598del (p.Ile200ArgfsTer?) c.457_458del c.460_461del c.474_475del (p.Ile159ArgfsTer?) c.*436_*437del (n.*436_*437del) c.684_685del (p.Ile229ArgfsTer?) c.687_688del (p.Ile230ArgfsTer?) | |
| X | g.154534388G>A | CA337317523 | G6PD | c.594C>T (p.Arg198=) c.597C>T (p.Arg199=) c.457C>T c.460C>T c.474C>T (p.Arg158=) c.*436C>T (n.*436C>T) c.684C>T (p.Arg228=) c.687C>T (p.Arg229=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534388G>C | CA519305690 | G6PD | c.594C>G (p.Arg198=) c.597C>G (p.Arg199=) c.457C>G c.460C>G c.474C>G (p.Arg158=) c.*436C>G (n.*436C>G) c.684C>G (p.Arg228=) c.687C>G (p.Arg229=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154534388G= | CA2466724149 | G6PD | c.594C= (p.Arg198=) c.597C= (p.Arg199=) c.457C= c.460C= c.474C= (p.Arg158=) c.*436C= (n.*436C=) c.684C= (p.Arg228=) c.687C= (p.Arg229=) | |
| X | g.154534388G>T | CA519305692 | G6PD | c.594C>A (p.Arg198=) c.597C>A (p.Arg199=) c.457C>A c.460C>A c.474C>A (p.Arg158=) c.*436C>A (n.*436C>A) c.684C>A (p.Arg228=) c.687C>A (p.Arg229=) | |
| X | g.154534388_154534389insA | CA10566209 | G6PD | c.593_594insT (p.Ile199HisfsTer?) c.596_597insT (p.Ile200HisfsTer?) c.456_457insT c.459_460insT c.473_474insT (p.Ile159HisfsTer?) c.*435_*436insT (n.*435_*436insT) c.683_684insT (p.Ile229HisfsTer?) c.686_687insT (p.Ile230HisfsTer?) | dbSNP ExAC |
| X | g.154534389C>A | CA415237848 | G6PD | c.593G>T (p.Arg198Leu) c.596G>T (p.Arg199Leu) c.456G>T c.459G>T c.473G>T (p.Arg158Leu) c.*435G>T (n.*435G>T) c.683G>T (p.Arg228Leu) c.686G>T (p.Arg229Leu) | |
| X | g.154534389C= | CA2466724150 | G6PD | c.593G= (p.Arg198=) c.596G= (p.Arg199=) c.456G= c.459G= c.473G= (p.Arg158=) c.*435G= (n.*435G=) c.683G= (p.Arg228=) c.686G= (p.Arg229=) | |
| X | g.154534389C>G | CA121002 | G6PD | c.593G>C (p.Arg198Pro) c.596G>C (p.Arg199Pro) c.456G>C c.459G>C c.473G>C (p.Arg158Pro) c.*435G>C (n.*435G>C) c.683G>C (p.Arg228Pro) c.686G>C (p.Arg229Pro) | ClinVar dbSNP |
| X | g.154534389C>T | CA121057 | G6PD | c.593G>A (p.Arg198His) c.596G>A (p.Arg199His) c.456G>A c.459G>A c.473G>A (p.Arg158His) c.*435G>A (n.*435G>A) c.683G>A (p.Arg228His) c.686G>A (p.Arg229His) | ClinVar dbSNP gnomAD v4 |