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 |
|---|---|---|---|---|---|
| 3 | g.38620847T>A | CA352153432 | SCN5A | c.607A>T (p.Met203Leu) n.802A>T c.482+1553A>T (n.482+1553A>T) | |
| 3 | g.38620847T>C | CA352153434 | SCN5A | c.607A>G (p.Met203Val) n.802A>G c.482+1553A>G (n.482+1553A>G) | COSMIC COSMIC COSMIC |
| 3 | g.38620847T>G | CA352153439 | SCN5A | c.607A>C (p.Met203Leu) n.802A>C c.482+1553A>C (n.482+1553A>C) | dbSNP gnomAD v4 |
| 3 | g.38620847T= | CA1358592303 | SCN5A | c.607A= (p.Met203=) n.802A= c.482+1553A= (n.482+1553A=) | |
| 3 | g.38620848G>A | CA433138921 | SCN5A | c.606C>T (p.Ile202=) n.801C>T c.482+1552C>T (n.482+1552C>T) | |
| 3 | g.38620848G>C | CA352153443 | SCN5A | c.606C>G (p.Ile202Met) n.801C>G c.482+1552C>G (n.482+1552C>G) | |
| 3 | g.38620848G>T | CA433138922 | SCN5A | c.606C>A (p.Ile202=) n.801C>A c.482+1552C>A (n.482+1552C>A) | |
| 3 | g.38620849A= | CA1358592304 | SCN5A | c.605T= (p.Ile202=) n.800T= c.482+1551T= (n.482+1551T=) | |
| 3 | g.38620849A>C | CA352153446 | SCN5A | c.605T>G (p.Ile202Ser) n.800T>G c.482+1551T>G (n.482+1551T>G) | |
| 3 | g.38620849A>G | CA352153453 | SCN5A | c.605T>C (p.Ile202Thr) n.800T>C c.482+1551T>C (n.482+1551T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38620849A>T | CA352153448 | SCN5A | c.605T>A (p.Ile202Asn) n.800T>A c.482+1551T>A (n.482+1551T>A) | |
| 3 | g.38620850T>A | CA352153457 | SCN5A | c.604A>T (p.Ile202Phe) n.799A>T c.482+1550A>T (n.482+1550A>T) | |
| 3 | g.38620850T>C | CA352153460 | SCN5A | c.604A>G (p.Ile202Val) n.799A>G c.482+1550A>G (n.482+1550A>G) | |
| 3 | g.38620850T>G | CA352153463 | SCN5A | c.604A>C (p.Ile202Leu) n.799A>C c.482+1550A>C (n.482+1550A>C) | |
| 3 | g.38620851A>C | CA352153466 | SCN5A | c.603T>G (p.Ile201Met) n.798T>G c.482+1549T>G (n.482+1549T>G) | |
| 3 | g.38620851A>G | CA433138926 | SCN5A | c.603T>C (p.Ile201=) n.798T>C c.482+1549T>C (n.482+1549T>C) | |
| 3 | g.38620851A>T | CA433138927 | SCN5A | c.603T>A (p.Ile201=) n.798T>A c.482+1549T>A (n.482+1549T>A) | |
| 3 | g.38620852A>C | CA352153471 | SCN5A | c.602T>G (p.Ile201Ser) n.797T>G c.482+1548T>G (n.482+1548T>G) | |
| 3 | g.38620852A>G | CA352153477 | SCN5A | c.602T>C (p.Ile201Thr) n.797T>C c.482+1548T>C (n.482+1548T>C) | |
| 3 | g.38620852A>T | CA352153473 | SCN5A | c.602T>A (p.Ile201Asn) n.797T>A c.482+1548T>A (n.482+1548T>A) | ClinVar |
| 3 | g.38620853T>A | CA352153478 | SCN5A | c.601A>T (p.Ile201Phe) n.796A>T c.482+1547A>T (n.482+1547A>T) | |
| 3 | g.38620853T>C | CA72948509 | SCN5A | c.601A>G (p.Ile201Val) n.796A>G c.482+1547A>G (n.482+1547A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38620853T>G | CA352153479 | SCN5A | c.601A>C (p.Ile201Leu) n.796A>C c.482+1547A>C (n.482+1547A>C) | |
| 3 | g.38620853T= | CA1358592305 | SCN5A | c.601A= (p.Ile201=) n.796A= c.482+1547A= (n.482+1547A=) | |
| 3 | g.38620854C>A | CA433138932 | SCN5A | c.600G>T (p.Val200=) n.795G>T c.482+1546G>T (n.482+1546G>T) | ClinVar dbSNP |
| 3 | g.38620854C= | CA1358592306 | SCN5A | c.600G= (p.Val200=) n.795G= c.482+1546G= (n.482+1546G=) | |
| 3 | g.38620854C>G | CA433138930 | SCN5A | c.600G>C (p.Val200=) n.795G>C c.482+1546G>C (n.482+1546G>C) | ClinVar dbSNP |
| 3 | g.38620854C>T | CA433138929 | SCN5A | c.600G>A (p.Val200=) n.795G>A c.482+1546G>A (n.482+1546G>A) | |
| 3 | g.38620855A>C | CA352153480 | SCN5A | c.599T>G (p.Val200Gly) n.794T>G c.482+1545T>G (n.482+1545T>G) | |
| 3 | g.38620855A>G | CA352153481 | SCN5A | c.599T>C (p.Val200Ala) n.794T>C c.482+1545T>C (n.482+1545T>C) | |
| 3 | g.38620855A>T | CA352153482 | SCN5A | c.599T>A (p.Val200Glu) n.794T>A c.482+1545T>A (n.482+1545T>A) | |
| 3 | g.38620856C>A | CA352153483 | SCN5A | c.598G>T (p.Val200Leu) n.793G>T c.482+1544G>T (n.482+1544G>T) | |
| 3 | g.38620856C>G | CA352153484 | SCN5A | c.598G>C (p.Val200Leu) n.793G>C c.482+1544G>C (n.482+1544G>C) | |
| 3 | g.38620856C>T | CA352153485 | SCN5A | c.598G>A (p.Val200Met) n.793G>A c.482+1544G>A (n.482+1544G>A) | |
| 3 | g.38620857A>C | CA352153486 | SCN5A | c.597T>G (p.Ser199Arg) n.792T>G c.482+1543T>G (n.482+1543T>G) | |
| 3 | g.38620857A>G | CA433138934 | SCN5A | c.597T>C (p.Ser199=) n.792T>C c.482+1543T>C (n.482+1543T>C) | |
| 3 | g.38620857A>T | CA352153487 | SCN5A | c.597T>A (p.Ser199Arg) n.792T>A c.482+1543T>A (n.482+1543T>A) | ClinVar |
| 3 | g.38620858del | CA2580069731 | SCN5A | c.596del (p.Ser199MetfsTer2) n.791del c.482+1542del (n.482+1542del) | ClinVar |
| 3 | g.38620858C>A | CA352153490 | SCN5A | c.596G>T (p.Ser199Ile) n.791G>T c.482+1542G>T (n.482+1542G>T) | ClinVar dbSNP |
| 3 | g.38620858C= | CA1358592307 | SCN5A | c.596G= (p.Ser199=) n.791G= c.482+1542G= (n.482+1542G=) | |
| 3 | g.38620858C>G | CA352153489 | SCN5A | c.596G>C (p.Ser199Thr) n.791G>C c.482+1542G>C (n.482+1542G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38620858C>T | CA352153488 | SCN5A | c.596G>A (p.Ser199Asn) n.791G>A c.482+1542G>A (n.482+1542G>A) | gnomAD v4 |
| 3 | g.38620859T>A | CA352153491 | SCN5A | c.595A>T (p.Ser199Cys) n.790A>T c.482+1541A>T (n.482+1541A>T) | |
| 3 | g.38620859T>C | CA352153493 | SCN5A | c.595A>G (p.Ser199Gly) n.790A>G c.482+1541A>G (n.482+1541A>G) | |
| 3 | g.38620859T>G | CA352153492 | SCN5A | c.595A>C (p.Ser199Arg) n.790A>C c.482+1541A>C (n.482+1541A>C) | |
| 3 | g.38620860A= | CA1358592308 | SCN5A | c.594T= (p.Phe198=) n.789T= c.482+1540T= (n.482+1540T=) | |
| 3 | g.38620860A>C | CA352153494 | SCN5A | c.594T>G (p.Phe198Leu) n.789T>G c.482+1540T>G (n.482+1540T>G) | |
| 3 | g.38620860A>G | CA065051 | SCN5A | c.594T>C (p.Phe198=) n.789T>C c.482+1540T>C (n.482+1540T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38620860A>T | CA352153495 | SCN5A | c.594T>A (p.Phe198Leu) n.789T>A c.482+1540T>A (n.482+1540T>A) | |
| 3 | g.38620861A>C | CA352153498 | SCN5A | c.593T>G (p.Phe198Cys) n.788T>G c.482+1539T>G (n.482+1539T>G) |