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 |
|---|---|---|---|---|---|
| 5 | g.148125722G>A | CA361649622 | SPINK5 | c.2740-1G>A (n.2740-1G>A) c.2830-1G>A (n.2830-1G>A) c.2773-1G>A (n.2773-1G>A) c.2746-1G>A (n.2746-1G>A) | |
| 5 | g.148125722G>C | CA16042508 | SPINK5 | c.2740-1G>C (n.2740-1G>C) c.2830-1G>C (n.2830-1G>C) c.2773-1G>C (n.2773-1G>C) c.2746-1G>C (n.2746-1G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148125722G= | CA1589900521 | SPINK5 | c.2740-1G= (n.2740-1G=) c.2830-1G= (n.2830-1G=) c.2773-1G= (n.2773-1G=) c.2746-1G= (n.2746-1G=) | |
| 5 | g.148125722G>T | CA361649627 | SPINK5 | c.2740-1G>T (n.2740-1G>T) c.2830-1G>T (n.2830-1G>T) c.2773-1G>T (n.2773-1G>T) c.2746-1G>T (n.2746-1G>T) | |
| 5 | g.148125723G>A | CA361649630 | SPINK5 | c.2740G>A (p.Asp914Asn) c.2830G>A (p.Asp944Asn) c.2773G>A (p.Asp925Asn) c.2746G>A (p.Asp916Asn) | |
| 5 | g.148125723G>C | CA361649633 | SPINK5 | c.2740G>C (p.Asp914His) c.2830G>C (p.Asp944His) c.2773G>C (p.Asp925His) c.2746G>C (p.Asp916His) | |
| 5 | g.148125723G>T | CA361649628 | SPINK5 | c.2740G>T (p.Asp914Tyr) c.2830G>T (p.Asp944Tyr) c.2773G>T (p.Asp925Tyr) c.2746G>T (p.Asp916Tyr) | COSMIC COSMIC |
| 5 | g.148125724A>C | CA361649639 | SPINK5 | c.2741A>C (p.Asp914Ala) c.2831A>C (p.Asp944Ala) c.2774A>C (p.Asp925Ala) c.2747A>C (p.Asp916Ala) | |
| 5 | g.148125724A>G | CA361649640 | SPINK5 | c.2741A>G (p.Asp914Gly) c.2831A>G (p.Asp944Gly) c.2774A>G (p.Asp925Gly) c.2747A>G (p.Asp916Gly) | |
| 5 | g.148125724A>T | CA361649642 | SPINK5 | c.2741A>T (p.Asp914Val) c.2831A>T (p.Asp944Val) c.2774A>T (p.Asp925Val) c.2747A>T (p.Asp916Val) | |
| 5 | g.148125725T>A | CA361649645 | SPINK5 | c.2742T>A (p.Asp914Glu) c.2832T>A (p.Asp944Glu) c.2775T>A (p.Asp925Glu) c.2748T>A (p.Asp916Glu) | |
| 5 | g.148125725T>C | CA446937789 | SPINK5 | c.2742T>C (p.Asp914=) c.2832T>C (p.Asp944=) c.2775T>C (p.Asp925=) c.2748T>C (p.Asp916=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148125725T>G | CA361649647 | SPINK5 | c.2742T>G (p.Asp914Glu) c.2832T>G (p.Asp944Glu) c.2775T>G (p.Asp925Glu) c.2748T>G (p.Asp916Glu) | |
| 5 | g.148125725T= | CA1589900522 | SPINK5 | c.2742T= (p.Asp914=) c.2832T= (p.Asp944=) c.2775T= (p.Asp925=) c.2748T= (p.Asp916=) | |
| 5 | g.148125726G>A | CA361649652 | SPINK5 | c.2743G>A (p.Glu915Lys) c.2833G>A (p.Glu945Lys) c.2776G>A (p.Glu926Lys) c.2749G>A (p.Glu917Lys) | gnomAD v4 COSMIC COSMIC |
| 5 | g.148125726G>C | CA361649649 | SPINK5 | c.2743G>C (p.Glu915Gln) c.2833G>C (p.Glu945Gln) c.2776G>C (p.Glu926Gln) c.2749G>C (p.Glu917Gln) | |
| 5 | g.148125726G>T | CA361649650 | SPINK5 | c.2743G>T (p.Glu915Ter) c.2833G>T (p.Glu945Ter) c.2776G>T (p.Glu926Ter) c.2749G>T (p.Glu917Ter) | |
| 5 | g.148125727A>C | CA361649653 | SPINK5 | c.2744A>C (p.Glu915Ala) c.2834A>C (p.Glu945Ala) c.2777A>C (p.Glu926Ala) c.2750A>C (p.Glu917Ala) | |
| 5 | g.148125727A>G | CA361649654 | SPINK5 | c.2744A>G (p.Glu915Gly) c.2834A>G (p.Glu945Gly) c.2777A>G (p.Glu926Gly) c.2750A>G (p.Glu917Gly) | |
| 5 | g.148125727A>T | CA361649655 | SPINK5 | c.2744A>T (p.Glu915Val) c.2834A>T (p.Glu945Val) c.2777A>T (p.Glu926Val) c.2750A>T (p.Glu917Val) | |
| 5 | g.148125728G>A | CA446937791 | SPINK5 | c.2745G>A (p.Glu915=) c.2835G>A (p.Glu945=) c.2778G>A (p.Glu926=) c.2751G>A (p.Glu917=) | gnomAD v4 |
| 5 | g.148125728G>C | CA361649656 | SPINK5 | c.2745G>C (p.Glu915Asp) c.2835G>C (p.Glu945Asp) c.2778G>C (p.Glu926Asp) c.2751G>C (p.Glu917Asp) | dbSNP |
| 5 | g.148125728G= | CA1589900523 | SPINK5 | c.2745G= (p.Glu915=) c.2835G= (p.Glu945=) c.2778G= (p.Glu926=) c.2751G= (p.Glu917=) | |
| 5 | g.148125728G>T | CA361649657 | SPINK5 | c.2745G>T (p.Glu915Asp) c.2835G>T (p.Glu945Asp) c.2778G>T (p.Glu926Asp) c.2751G>T (p.Glu917Asp) | |
| 5 | g.148125729T>A | CA361649666 | SPINK5 | c.2746T>A (p.Cys916Ser) c.2836T>A (p.Cys946Ser) c.2779T>A (p.Cys927Ser) c.2752T>A (p.Cys918Ser) | |
| 5 | g.148125729T>C | CA361649664 | SPINK5 | c.2746T>C (p.Cys916Arg) c.2836T>C (p.Cys946Arg) c.2779T>C (p.Cys927Arg) c.2752T>C (p.Cys918Arg) | |
| 5 | g.148125729T>G | CA361649661 | SPINK5 | c.2746T>G (p.Cys916Gly) c.2836T>G (p.Cys946Gly) c.2779T>G (p.Cys927Gly) c.2752T>G (p.Cys918Gly) | |
| 5 | g.148125729dup | CA3496132 | SPINK5 | c.2746dup (p.Cys916LeufsTer3) c.2836dup (p.Cys946LeufsTer3) c.2779dup (p.Cys927LeufsTer3) c.2752dup (p.Cys918LeufsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.148125730G>A | CA3496133 | SPINK5 | c.2747G>A (p.Cys916Tyr) c.2837G>A (p.Cys946Tyr) c.2780G>A (p.Cys927Tyr) c.2753G>A (p.Cys918Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.148125730G>C | CA361649667 | SPINK5 | c.2747G>C (p.Cys916Ser) c.2837G>C (p.Cys946Ser) c.2780G>C (p.Cys927Ser) c.2753G>C (p.Cys918Ser) | |
| 5 | g.148125730G= | CA1589900524 | SPINK5 | c.2747G= (p.Cys916=) c.2837G= (p.Cys946=) c.2780G= (p.Cys927=) c.2753G= (p.Cys918=) | |
| 5 | g.148125730G>T | CA361649668 | SPINK5 | c.2747G>T (p.Cys916Phe) c.2837G>T (p.Cys946Phe) c.2780G>T (p.Cys927Phe) c.2753G>T (p.Cys918Phe) | |
| 5 | g.148125731C>A | CA361649672 | SPINK5 | c.2748C>A (p.Cys916Ter) c.2838C>A (p.Cys946Ter) c.2781C>A (p.Cys927Ter) c.2754C>A (p.Cys918Ter) | |
| 5 | g.148125731C>G | CA361649674 | SPINK5 | c.2748C>G (p.Cys916Trp) c.2838C>G (p.Cys946Trp) c.2781C>G (p.Cys927Trp) c.2754C>G (p.Cys918Trp) | |
| 5 | g.148125731C>T | CA446937796 | SPINK5 | c.2748C>T (p.Cys916=) c.2838C>T (p.Cys946=) c.2781C>T (p.Cys927=) c.2754C>T (p.Cys918=) | |
| 5 | g.148125732A>C | CA361649677 | SPINK5 | c.2749A>C (p.Ser917Arg) c.2839A>C (p.Ser947Arg) c.2782A>C (p.Ser928Arg) c.2755A>C (p.Ser919Arg) | |
| 5 | g.148125732A>G | CA361649679 | SPINK5 | c.2749A>G (p.Ser917Gly) c.2839A>G (p.Ser947Gly) c.2782A>G (p.Ser928Gly) c.2755A>G (p.Ser919Gly) | gnomAD v4 |
| 5 | g.148125732A>T | CA361649682 | SPINK5 | c.2749A>T (p.Ser917Cys) c.2839A>T (p.Ser947Cys) c.2782A>T (p.Ser928Cys) c.2755A>T (p.Ser919Cys) | |
| 5 | g.148125733G>A | CA361649684 | SPINK5 | c.2750G>A (p.Ser917Asn) c.2840G>A (p.Ser947Asn) c.2783G>A (p.Ser928Asn) c.2756G>A (p.Ser919Asn) | |
| 5 | g.148125733G>C | CA361649687 | SPINK5 | c.2750G>C (p.Ser917Thr) c.2840G>C (p.Ser947Thr) c.2783G>C (p.Ser928Thr) c.2756G>C (p.Ser919Thr) | |
| 5 | g.148125733G>T | CA361649688 | SPINK5 | c.2750G>T (p.Ser917Ile) c.2840G>T (p.Ser947Ile) c.2783G>T (p.Ser928Ile) c.2756G>T (p.Ser919Ile) | |
| 5 | g.148125734T>A | CA3496134 | SPINK5 | c.2751T>A (p.Ser917Arg) c.2841T>A (p.Ser947Arg) c.2784T>A (p.Ser928Arg) c.2757T>A (p.Ser919Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.148125734T>C | CA446937801 | SPINK5 | c.2751T>C (p.Ser917=) c.2841T>C (p.Ser947=) c.2784T>C (p.Ser928=) c.2757T>C (p.Ser919=) | |
| 5 | g.148125734T>G | CA361649691 | SPINK5 | c.2751T>G (p.Ser917Arg) c.2841T>G (p.Ser947Arg) c.2784T>G (p.Ser928Arg) c.2757T>G (p.Ser919Arg) | |
| 5 | g.148125734T= | CA1589900525 | SPINK5 | c.2751T= (p.Ser917=) c.2841T= (p.Ser947=) c.2784T= (p.Ser928=) c.2757T= (p.Ser919=) | |
| 5 | g.148125735G>A | CA361649695 | SPINK5 | c.2752G>A (p.Glu918Lys) c.2842G>A (p.Glu948Lys) c.2785G>A (p.Glu929Lys) c.2758G>A (p.Glu920Lys) | |
| 5 | g.148125735G>C | CA361649700 | SPINK5 | c.2752G>C (p.Glu918Gln) c.2842G>C (p.Glu948Gln) c.2785G>C (p.Glu929Gln) c.2758G>C (p.Glu920Gln) | |
| 5 | g.148125735G>T | CA361649698 | SPINK5 | c.2752G>T (p.Glu918Ter) c.2842G>T (p.Glu948Ter) c.2785G>T (p.Glu929Ter) c.2758G>T (p.Glu920Ter) | gnomAD v4 |
| 5 | g.148125736A= | CA1589900526 | SPINK5 | c.2753A= (p.Glu918=) c.2843A= (p.Glu948=) c.2786A= (p.Glu929=) c.2759A= (p.Glu920=) | |
| 5 | g.148125736A>C | CA361649703 | SPINK5 | c.2753A>C (p.Glu918Ala) c.2843A>C (p.Glu948Ala) c.2786A>C (p.Glu929Ala) c.2759A>C (p.Glu920Ala) | dbSNP gnomAD v4 |