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 |
|---|---|---|---|---|---|
| 12 | g.51765776A>C | CA384887487 | SCN8A | c.2650A>C (p.Ile884Leu) c.497A>C c.654A>C n.2778A>C c.2683A>C (p.Ile895Leu) | |
| 12 | g.51765776A>G | CA384887488 | SCN8A | c.2650A>G (p.Ile884Val) c.497A>G c.654A>G n.2778A>G c.2683A>G (p.Ile895Val) | |
| 12 | g.51765776A>T | CA384887489 | SCN8A | c.2650A>T (p.Ile884Phe) c.497A>T c.654A>T n.2778A>T c.2683A>T (p.Ile895Phe) | |
| 12 | g.51765777T>A | CA384887490 | SCN8A | c.2651T>A (p.Ile884Asn) c.498T>A c.655T>A n.2779T>A c.2684T>A (p.Ile895Asn) | |
| 12 | g.51765777T>C | CA384887491 | SCN8A | c.2651T>C (p.Ile884Thr) c.498T>C c.655T>C n.2779T>C c.2684T>C (p.Ile895Thr) | |
| 12 | g.51765777T>G | CA384887494 | SCN8A | c.2651T>G (p.Ile884Ser) c.498T>G c.655T>G n.2779T>G c.2684T>G (p.Ile895Ser) | |
| 12 | g.51765778T>A | CA480061327 | SCN8A | c.2652T>A (p.Ile884=) c.499T>A c.656T>A n.2780T>A c.2685T>A (p.Ile895=) | |
| 12 | g.51765778T>C | CA480061329 | SCN8A | c.2652T>C (p.Ile884=) c.499T>C c.656T>C n.2780T>C c.2685T>C (p.Ile895=) | |
| 12 | g.51765778T>G | CA384887498 | SCN8A | c.2652T>G (p.Ile884Met) c.499T>G c.656T>G n.2780T>G c.2685T>G (p.Ile895Met) | |
| 12 | g.51765779A>C | CA384887500 | SCN8A | c.2653A>C (p.Ile885Leu) c.500A>C c.657A>C n.2781A>C c.2686A>C (p.Ile896Leu) | |
| 12 | g.51765779A>G | CA384887502 | SCN8A | c.2653A>G (p.Ile885Val) c.500A>G c.657A>G n.2781A>G c.2686A>G (p.Ile896Val) | gnomAD v4 |
| 12 | g.51765779A>T | CA384887505 | SCN8A | c.2653A>T (p.Ile885Phe) c.500A>T c.657A>T n.2781A>T c.2686A>T (p.Ile896Phe) | |
| 12 | g.51765780T>A | CA384887507 | SCN8A | c.2654T>A (p.Ile885Asn) c.501T>A c.658T>A n.2782T>A c.2687T>A (p.Ile896Asn) | |
| 12 | g.51765780T>C | CA384887511 | SCN8A | c.2654T>C (p.Ile885Thr) c.501T>C c.658T>C n.2782T>C c.2687T>C (p.Ile896Thr) | ClinVar dbSNP |
| 12 | g.51765780T>G | CA384887514 | SCN8A | c.2654T>G (p.Ile885Ser) c.501T>G c.658T>G n.2782T>G c.2687T>G (p.Ile896Ser) | |
| 12 | g.51765780T= | CA2036184098 | SCN8A | c.2654T= (p.Ile885=) c.501T= c.658T= n.2782T= c.2687T= (p.Ile896=) | |
| 12 | g.51765781T>A | CA480061331 | SCN8A | c.2655T>A (p.Ile885=) c.502T>A c.659T>A n.2783T>A c.2688T>A (p.Ile896=) | |
| 12 | g.51765781T>C | CA480061332 | SCN8A | c.2655T>C (p.Ile885=) c.502T>C c.659T>C n.2783T>C c.2688T>C (p.Ile896=) | |
| 12 | g.51765781T>G | CA384887517 | SCN8A | c.2655T>G (p.Ile885Met) c.502T>G c.659T>G n.2783T>G c.2688T>G (p.Ile896Met) | |
| 12 | g.51765782G>A | CA384887521 | SCN8A | c.2656G>A (p.Val886Ile) c.503G>A c.660G>A n.2784G>A c.2689G>A (p.Val897Ile) | |
| 12 | g.51765782G>C | CA384887525 | SCN8A | c.2656G>C (p.Val886Leu) c.503G>C c.660G>C n.2784G>C c.2689G>C (p.Val897Leu) | |
| 12 | g.51765782G>T | CA384887527 | SCN8A | c.2656G>T (p.Val886Phe) c.503G>T c.660G>T n.2784G>T c.2689G>T (p.Val897Phe) | |
| 12 | g.51765783T>A | CA384887528 | SCN8A | c.2657T>A (p.Val886Asp) c.504T>A c.661T>A n.2785T>A c.2690T>A (p.Val897Asp) | |
| 12 | g.51765783T>C | CA384887529 | SCN8A | c.2657T>C (p.Val886Ala) c.504T>C c.661T>C n.2785T>C c.2690T>C (p.Val897Ala) | |
| 12 | g.51765783T>G | CA384887532 | SCN8A | c.2657T>G (p.Val886Gly) c.504T>G c.661T>G n.2785T>G c.2690T>G (p.Val897Gly) | |
| 12 | g.51765784C>A | CA480061337 | SCN8A | c.2658C>A (p.Val886=) c.505C>A c.662C>A n.2786C>A c.2691C>A (p.Val897=) | |
| 12 | g.51765784C= | CA2036184105 | SCN8A | c.2658C= (p.Val886=) c.505C= c.662C= n.2786C= c.2691C= (p.Val897=) | |
| 12 | g.51765784C>G | CA480061336 | SCN8A | c.2658C>G (p.Val886=) c.505C>G c.662C>G n.2786C>G c.2691C>G (p.Val897=) | |
| 12 | g.51765784C>T | CA6571502 | SCN8A | c.2658C>T (p.Val886=) c.505C>T c.662C>T n.2786C>T c.2691C>T (p.Val897=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51765785T>A | CA384887538 | SCN8A | c.2659T>A (p.Phe887Ile) c.506T>A c.663T>A n.2787T>A c.2692T>A (p.Phe898Ile) | |
| 12 | g.51765785T>C | CA384887541 | SCN8A | c.2659T>C (p.Phe887Leu) c.506T>C c.663T>C n.2787T>C c.2692T>C (p.Phe898Leu) | |
| 12 | g.51765785T>G | CA384887543 | SCN8A | c.2659T>G (p.Phe887Val) c.506T>G c.663T>G n.2787T>G c.2692T>G (p.Phe898Val) | |
| 12 | g.51765786T>A | CA384887544 | SCN8A | c.2660T>A (p.Phe887Tyr) c.507T>A c.664T>A n.2788T>A c.2693T>A (p.Phe898Tyr) | |
| 12 | g.51765786T>C | CA384887545 | SCN8A | c.2660T>C (p.Phe887Ser) c.507T>C c.664T>C n.2788T>C c.2693T>C (p.Phe898Ser) | |
| 12 | g.51765786T>G | CA384887547 | SCN8A | c.2660T>G (p.Phe887Cys) c.507T>G c.664T>G n.2788T>G c.2693T>G (p.Phe898Cys) | |
| 12 | g.51765787C>A | CA384887548 | SCN8A | c.2661C>A (p.Phe887Leu) c.508C>A c.665C>A n.2789C>A c.2694C>A (p.Phe898Leu) | |
| 12 | g.51765787C>G | CA384887550 | SCN8A | c.2661C>G (p.Phe887Leu) c.508C>G c.665C>G n.2789C>G c.2694C>G (p.Phe898Leu) | |
| 12 | g.51765787C>T | CA480061338 | SCN8A | c.2661C>T (p.Phe887=) c.508C>T c.665C>T n.2789C>T c.2694C>T (p.Phe898=) | gnomAD v4 |
| 12 | g.51765788A= | CA2036184116 | SCN8A | c.2662A= (p.Ile888=) c.509A= c.666A= n.2790A= c.2695A= (p.Ile899=) | |
| 12 | g.51765788A>C | CA384887554 | SCN8A | c.2662A>C (p.Ile888Leu) c.509A>C c.666A>C n.2790A>C c.2695A>C (p.Ile899Leu) | |
| 12 | g.51765788A>G | CA384887557 | SCN8A | c.2662A>G (p.Ile888Val) c.509A>G c.666A>G n.2790A>G c.2695A>G (p.Ile899Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51765788A>T | CA384887559 | SCN8A | c.2662A>T (p.Ile888Phe) c.509A>T c.666A>T n.2790A>T c.2695A>T (p.Ile899Phe) | |
| 12 | g.51765789T>A | CA384887563 | SCN8A | c.2663T>A (p.Ile888Asn) c.510T>A c.667T>A n.2791T>A c.2696T>A (p.Ile899Asn) | |
| 12 | g.51765789T>C | CA384887572 | SCN8A | c.2663T>C (p.Ile888Thr) c.510T>C c.667T>C n.2791T>C c.2696T>C (p.Ile899Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51765789T>G | CA384887573 | SCN8A | c.2663T>G (p.Ile888Ser) c.510T>G c.667T>G n.2791T>G c.2696T>G (p.Ile899Ser) | |
| 12 | g.51765790_51765801del | CA2695216909 | SCN8A | c.2664_2675del (p.Ile888_Val892delinsMet) c.511_522del c.668_679del n.2792_2803del c.2697_2708del (p.Ile899_Val903delinsMet) | |
| 12 | g.51765790C>A | CA480061343 | SCN8A | c.2664C>A (p.Ile888=) c.511C>A c.668C>A n.2792C>A c.2697C>A (p.Ile899=) | |
| 12 | g.51765790C>G | CA384887580 | SCN8A | c.2664C>G (p.Ile888Met) c.511C>G c.668C>G n.2792C>G c.2697C>G (p.Ile899Met) | |
| 12 | g.51765790C>T | CA480061344 | SCN8A | c.2664C>T (p.Ile888=) c.511C>T c.668C>T n.2792C>T c.2697C>T (p.Ile899=) | |
| 12 | g.51765791T>A | CA384887585 | SCN8A | c.2665T>A (p.Phe889Ile) c.512T>A c.669T>A n.2793T>A c.2698T>A (p.Phe900Ile) |