WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154535931A>T | CA2695148345 | G6PD | c.267+6T>A (n.267+6T>A) c.130+23T>A c.147+6T>A (n.147+6T>A) c.*109+6T>A (n.*109+6T>A) c.357+6T>A (n.357+6T>A) n.227T>A n.221+6T>A | gnomAD v4 |
| X | g.154535932C>T | CA2695237066 | G6PD | c.267+5G>A (n.267+5G>A) c.130+22G>A c.147+5G>A (n.147+5G>A) c.*109+5G>A (n.*109+5G>A) c.357+5G>A (n.357+5G>A) n.226G>A n.221+5G>A | |
| X | g.154535935A>C | CA415239471 | G6PD | c.267+2T>G (n.267+2T>G) c.130+19T>G c.147+2T>G (n.147+2T>G) c.*109+2T>G (n.*109+2T>G) c.357+2T>G (n.357+2T>G) n.223T>G n.221+2T>G | |
| X | g.154535935A>G | CA415239478 | G6PD | c.267+2T>C (n.267+2T>C) c.130+19T>C c.147+2T>C (n.147+2T>C) c.*109+2T>C (n.*109+2T>C) c.357+2T>C (n.357+2T>C) n.223T>C n.221+2T>C | |
| X | g.154535935A>T | CA415239481 | G6PD | c.267+2T>A (n.267+2T>A) c.130+19T>A c.147+2T>A (n.147+2T>A) c.*109+2T>A (n.*109+2T>A) c.357+2T>A (n.357+2T>A) n.223T>A n.221+2T>A | |
| X | g.154535936C>A | CA415239484 | G6PD | c.267+1G>T (n.267+1G>T) c.130+18G>T c.147+1G>T (n.147+1G>T) c.*109+1G>T (n.*109+1G>T) c.357+1G>T (n.357+1G>T) n.222G>T n.221+1G>T | |
| X | g.154535936C>G | CA415239482 | G6PD | c.267+1G>C (n.267+1G>C) c.130+18G>C c.147+1G>C (n.147+1G>C) c.*109+1G>C (n.*109+1G>C) c.357+1G>C (n.357+1G>C) n.222G>C n.221+1G>C | |
| X | g.154535936C>T | CA415239483 | G6PD | c.267+1G>A (n.267+1G>A) c.130+18G>A c.147+1G>A (n.147+1G>A) c.*109+1G>A (n.*109+1G>A) c.357+1G>A (n.357+1G>A) n.222G>A n.221+1G>A | |
| X | g.154535937C>A | CA415239486 | G6PD | c.267G>T (p.Lys89Asn) c.130+17G>T c.147G>T (p.Lys49Asn) c.*109G>T (n.*109G>T) c.357G>T (p.Lys119Asn) n.221G>T | |
| X | g.154535937C>G | CA415239487 | G6PD | c.267G>C (p.Lys89Asn) c.130+17G>C c.147G>C (p.Lys49Asn) c.*109G>C (n.*109G>C) c.357G>C (p.Lys119Asn) n.221G>C | |
| X | g.154535937C>T | CA519308570 | G6PD | c.267G>A (p.Lys89=) c.130+17G>A c.147G>A (p.Lys49=) c.*109G>A (n.*109G>A) c.357G>A (p.Lys119=) n.221G>A | |
| X | g.154535938T>A | CA415239490 | G6PD | c.266A>T (p.Lys89Met) c.130+16A>T c.146A>T (p.Lys49Met) c.*108A>T (n.*108A>T) c.356A>T (p.Lys119Met) n.220A>T | |
| X | g.154535938T>C | CA415239491 | G6PD | c.266A>G (p.Lys89Arg) c.130+16A>G c.146A>G (p.Lys49Arg) c.*108A>G (n.*108A>G) c.356A>G (p.Lys119Arg) n.220A>G | gnomAD v4 |
| X | g.154535938T>G | CA415239492 | G6PD | c.266A>C (p.Lys89Thr) c.130+16A>C c.146A>C (p.Lys49Thr) c.*108A>C (n.*108A>C) c.356A>C (p.Lys119Thr) n.220A>C | |
| X | g.154535939T>A | CA415239493 | G6PD | c.265A>T (p.Lys89Ter) c.130+15A>T c.145A>T (p.Lys49Ter) c.*107A>T (n.*107A>T) c.355A>T (p.Lys119Ter) n.219A>T | |
| X | g.154535939T>C | CA415239494 | G6PD | c.265A>G (p.Lys89Glu) c.130+15A>G c.145A>G (p.Lys49Glu) c.*107A>G (n.*107A>G) c.355A>G (p.Lys119Glu) n.219A>G | |
| X | g.154535939T>G | CA415239496 | G6PD | c.265A>C (p.Lys89Gln) c.130+15A>C c.145A>C (p.Lys49Gln) c.*107A>C (n.*107A>C) c.355A>C (p.Lys119Gln) n.219A>C | |
| X | g.154535940G>A | CA519308590 | G6PD | c.264C>T (p.Phe88=) c.130+14C>T c.144C>T (p.Phe48=) c.*106C>T (n.*106C>T) c.354C>T (p.Phe118=) n.218C>T | |
| X | g.154535940G>C | CA10566293 | G6PD | c.264C>G (p.Phe88Leu) c.130+14C>G c.144C>G (p.Phe48Leu) c.*106C>G (n.*106C>G) c.354C>G (p.Phe118Leu) n.218C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154535940G= | CA2466724798 | G6PD | c.264C= (p.Phe88=) c.130+14C= c.144C= (p.Phe48=) c.*106C= (n.*106C=) c.354C= (p.Phe118=) n.218C= | |
| X | g.154535940G>T | CA415239498 | G6PD | c.264C>A (p.Phe88Leu) c.130+14C>A c.144C>A (p.Phe48Leu) c.*106C>A (n.*106C>A) c.354C>A (p.Phe118Leu) n.218C>A | |
| X | g.154535944_154535946del | CA2695237067 | G6PD | c.262_264del (p.Phe88del) c.130+12_130+14del c.142_144del (p.Phe48del) c.*104_*106del (n.*104_*106del) c.352_354del (p.Phe118del) n.216_218del | |
| X | g.154535941A>C | CA415239511 | G6PD | c.263T>G (p.Phe88Cys) c.130+13T>G c.143T>G (p.Phe48Cys) c.*105T>G (n.*105T>G) c.353T>G (p.Phe118Cys) n.217T>G | |
| X | g.154535941A>G | CA415239508 | G6PD | c.263T>C (p.Phe88Ser) c.130+13T>C c.143T>C (p.Phe48Ser) c.*105T>C (n.*105T>C) c.353T>C (p.Phe118Ser) n.217T>C | |
| X | g.154535941A>T | CA415239502 | G6PD | c.263T>A (p.Phe88Tyr) c.130+13T>A c.143T>A (p.Phe48Tyr) c.*105T>A (n.*105T>A) c.353T>A (p.Phe118Tyr) n.217T>A | |
| X | g.154535942A>C | CA415239512 | G6PD | c.262T>G (p.Phe88Val) c.130+12T>G c.142T>G (p.Phe48Val) c.*104T>G (n.*104T>G) c.352T>G (p.Phe118Val) n.216T>G | |
| X | g.154535942A>G | CA415239516 | G6PD | c.262T>C (p.Phe88Leu) c.130+12T>C c.142T>C (p.Phe48Leu) c.*104T>C (n.*104T>C) c.352T>C (p.Phe118Leu) n.216T>C | |
| X | g.154535942A>T | CA415239513 | G6PD | c.262T>A (p.Phe88Ile) c.130+12T>A c.142T>A (p.Phe48Ile) c.*104T>A (n.*104T>A) c.352T>A (p.Phe118Ile) n.216T>A | |
| X | g.154535943G>A | CA519308612 | G6PD | c.261C>T (p.Phe87=) c.130+11C>T c.141C>T (p.Phe47=) c.*103C>T (n.*103C>T) c.351C>T (p.Phe117=) n.215C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154535943G>C | CA415239517 | G6PD | c.261C>G (p.Phe87Leu) c.130+11C>G c.141C>G (p.Phe47Leu) c.*103C>G (n.*103C>G) c.351C>G (p.Phe117Leu) n.215C>G | |
| X | g.154535943G= | CA2466724799 | G6PD | c.261C= (p.Phe87=) c.130+11C= c.141C= (p.Phe47=) c.*103C= (n.*103C=) c.351C= (p.Phe117=) n.215C= | |
| X | g.154535943G>T | CA415239520 | G6PD | c.261C>A (p.Phe87Leu) c.130+11C>A c.141C>A (p.Phe47Leu) c.*103C>A (n.*103C>A) c.351C>A (p.Phe117Leu) n.215C>A | |
| X | g.154535944A>C | CA415239523 | G6PD | c.260T>G (p.Phe87Cys) c.130+10T>G c.140T>G (p.Phe47Cys) c.*102T>G (n.*102T>G) c.350T>G (p.Phe117Cys) n.214T>G | |
| X | g.154535944A>G | CA415239525 | G6PD | c.260T>C (p.Phe87Ser) c.130+10T>C c.140T>C (p.Phe47Ser) c.*102T>C (n.*102T>C) c.350T>C (p.Phe117Ser) n.214T>C | |
| X | g.154535944A>T | CA415239526 | G6PD | c.260T>A (p.Phe87Tyr) c.130+10T>A c.140T>A (p.Phe47Tyr) c.*102T>A (n.*102T>A) c.350T>A (p.Phe117Tyr) n.214T>A | |
| X | g.154535945del | CA2579742191 | G6PD | c.260del (p.Phe87SerfsTer?) c.130+10del c.140del (p.Phe47SerfsTer?) c.*102del (n.*102del) c.350del (p.Phe117SerfsTer?) n.214del | |
| X | g.154535945A>C | CA415239530 | G6PD | c.259T>G (p.Phe87Val) c.130+9T>G c.139T>G (p.Phe47Val) c.*101T>G (n.*101T>G) c.349T>G (p.Phe117Val) n.213T>G | |
| X | g.154535945A>G | CA415239536 | G6PD | c.259T>C (p.Phe87Leu) c.130+9T>C c.139T>C (p.Phe47Leu) c.*101T>C (n.*101T>C) c.349T>C (p.Phe117Leu) n.213T>C | |
| X | g.154535945A>T | CA415239539 | G6PD | c.259T>A (p.Phe87Ile) c.130+9T>A c.139T>A (p.Phe47Ile) c.*101T>A (n.*101T>A) c.349T>A (p.Phe117Ile) n.213T>A | |
| X | g.154535946G>A | CA519308630 | G6PD | c.258C>T (p.Pro86=) c.130+8C>T c.138C>T (p.Pro46=) c.*100C>T (n.*100C>T) c.348C>T (p.Pro116=) n.212C>T | |
| X | g.154535946G>C | CA519308632 | G6PD | c.258C>G (p.Pro86=) c.130+8C>G c.138C>G (p.Pro46=) c.*100C>G (n.*100C>G) c.348C>G (p.Pro116=) n.212C>G | |
| X | g.154535946G>T | CA519308634 | G6PD | c.258C>A (p.Pro86=) c.130+8C>A c.138C>A (p.Pro46=) c.*100C>A (n.*100C>A) c.348C>A (p.Pro116=) n.212C>A | |
| X | g.154535948del | CA2579742192 | G6PD | c.258del (p.Phe87SerfsTer?) c.130+8del c.138del (p.Phe47SerfsTer?) c.*100del (n.*100del) c.348del (p.Phe117SerfsTer?) n.212del | |
| X | g.154535947G>A | CA415239543 | G6PD | c.257C>T (p.Pro86Leu) c.130+7C>T c.137C>T (p.Pro46Leu) c.*99C>T (n.*99C>T) c.347C>T (p.Pro116Leu) n.211C>T | |
| X | g.154535947G>C | CA415239546 | G6PD | c.257C>G (p.Pro86Arg) c.130+7C>G c.137C>G (p.Pro46Arg) c.*99C>G (n.*99C>G) c.347C>G (p.Pro116Arg) n.211C>G | |
| X | g.154535947G>T | CA415239548 | G6PD | c.257C>A (p.Pro86His) c.130+7C>A c.137C>A (p.Pro46His) c.*99C>A (n.*99C>A) c.347C>A (p.Pro116His) n.211C>A | |
| X | g.154535948G>A | CA415239551 | G6PD | c.256C>T (p.Pro86Ser) c.130+6C>T c.136C>T (p.Pro46Ser) c.*98C>T (n.*98C>T) c.346C>T (p.Pro116Ser) n.210C>T | |
| X | g.154535948G>C | CA415239554 | G6PD | c.256C>G (p.Pro86Ala) c.130+6C>G c.136C>G (p.Pro46Ala) c.*98C>G (n.*98C>G) c.346C>G (p.Pro116Ala) n.210C>G | |
| X | g.154535948G>T | CA415239556 | G6PD | c.256C>A (p.Pro86Thr) c.130+6C>A c.136C>A (p.Pro46Thr) c.*98C>A (n.*98C>A) c.346C>A (p.Pro116Thr) n.210C>A | |
| X | g.154535949C>A | CA415239558 | G6PD | c.255G>T (p.Glu85Asp) c.130+5G>T c.135G>T (p.Glu45Asp) c.*97G>T (n.*97G>T) c.345G>T (p.Glu115Asp) n.209G>T |