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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378456_94378504del | CA2695219652 | SERPINA1 | c.1208_1256del (p.Thr403AsnfsTer?) c.1208_1256del (p.Thr403=) c.*507_*555del (n.*507_*555del) | |
| 14 | g.94378464A>C | CA390847299 | SERPINA1 | c.1242T>G (p.Asn414Lys) c.*541T>G (n.*541T>G) | |
| 14 | g.94378464A>G | CA487621083 | SERPINA1 | c.1242T>C (p.Asn414=) c.*541T>C (n.*541T>C) | |
| 14 | g.94378464A>T | CA390847300 | SERPINA1 | c.1242T>A (p.Asn414Lys) c.*541T>A (n.*541T>A) | |
| 14 | g.94378465T>A | CA390847301 | SERPINA1 | c.1241A>T (p.Asn414Ile) c.*540A>T (n.*540A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378465T>C | CA390847303 | SERPINA1 | c.1241A>G (p.Asn414Ser) c.*540A>G (n.*540A>G) | |
| 14 | g.94378465T>G | CA390847302 | SERPINA1 | c.1241A>C (p.Asn414Thr) c.*540A>C (n.*540A>C) | |
| 14 | g.94378465T= | CA2155953371 | SERPINA1 | c.1241A= (p.Asn414=) c.*540A= (n.*540A=) | |
| 14 | g.94378466T>A | CA390847304 | SERPINA1 | c.1240A>T (p.Asn414Tyr) c.*539A>T (n.*539A>T) | |
| 14 | g.94378466T>C | CA390847305 | SERPINA1 | c.1240A>G (p.Asn414Asp) c.*539A>G (n.*539A>G) | |
| 14 | g.94378466T>G | CA390847306 | SERPINA1 | c.1240A>C (p.Asn414His) c.*539A>C (n.*539A>C) | |
| 14 | g.94378466_94378469delinsTCAC | CA2155953372 | SERPINA1 | c.1237_1240delinsGTGA (p.Val413=) c.*536_*539delinsGTGA (n.*536_*539delinsGTGA) | |
| 14 | g.94378467C>A | CA487621084 | SERPINA1 | c.1239G>T (p.Val413=) c.*538G>T (n.*538G>T) | |
| 14 | g.94378467C>G | CA487621086 | SERPINA1 | c.1239G>C (p.Val413=) c.*538G>C (n.*538G>C) | |
| 14 | g.94378467C>T | CA487621087 | SERPINA1 | c.1239G>A (p.Val413=) c.*538G>A (n.*538G>A) | COSMIC |
| 14 | g.94378470_94378472del | CA7327246 | SERPINA1 | c.1237_1239del (p.Val413del) c.*536_*538del (n.*536_*538del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378468A>C | CA390847307 | SERPINA1 | c.1238T>G (p.Val413Gly) c.*537T>G (n.*537T>G) | |
| 14 | g.94378468A>G | CA390847308 | SERPINA1 | c.1238T>C (p.Val413Ala) c.*537T>C (n.*537T>C) | |
| 14 | g.94378468A>T | CA390847309 | SERPINA1 | c.1238T>A (p.Val413Glu) c.*537T>A (n.*537T>A) | |
| 14 | g.94378469C>A | CA390847310 | SERPINA1 | c.1237G>T (p.Val413Leu) c.*536G>T (n.*536G>T) | gnomAD v4 |
| 14 | g.94378469C= | CA2155953373 | SERPINA1 | c.1237G= (p.Val413=) c.*536G= (n.*536G=) | |
| 14 | g.94378469C>G | CA390847311 | SERPINA1 | c.1237G>C (p.Val413Leu) c.*536G>C (n.*536G>C) | dbSNP gnomAD v4 |
| 14 | g.94378469C>T | CA390847312 | SERPINA1 | c.1237G>A (p.Val413Met) c.*536G>A (n.*536G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378470C>A | CA487621088 | SERPINA1 | c.1236G>T (p.Val412=) c.*535G>T (n.*535G>T) | |
| 14 | g.94378470C>G | CA487621090 | SERPINA1 | c.1236G>C (p.Val412=) c.*535G>C (n.*535G>C) | |
| 14 | g.94378470C>T | CA487621091 | SERPINA1 | c.1236G>A (p.Val412=) c.*535G>A (n.*535G>A) | |
| 14 | g.94378471A>C | CA390847313 | SERPINA1 | c.1235T>G (p.Val412Gly) c.*534T>G (n.*534T>G) | |
| 14 | g.94378471A>G | CA390847314 | SERPINA1 | c.1235T>C (p.Val412Ala) c.*534T>C (n.*534T>C) | |
| 14 | g.94378471A>T | CA390847315 | SERPINA1 | c.1235T>A (p.Val412Glu) c.*534T>A (n.*534T>A) | |
| 14 | g.94378472C>A | CA390847318 | SERPINA1 | c.1234G>T (p.Val412Leu) c.*533G>T (n.*533G>T) | |
| 14 | g.94378472C>G | CA390847317 | SERPINA1 | c.1234G>C (p.Val412Leu) c.*533G>C (n.*533G>C) | |
| 14 | g.94378472C>T | CA390847316 | SERPINA1 | c.1234G>A (p.Val412Met) c.*533G>A (n.*533G>A) | |
| 14 | g.94378473T>A | CA390847319 | SERPINA1 | c.1233A>T (p.Lys411Asn) c.*532A>T (n.*532A>T) | |
| 14 | g.94378473T>C | CA487621093 | SERPINA1 | c.1233A>G (p.Lys411=) c.*532A>G (n.*532A>G) | |
| 14 | g.94378473T>G | CA390847320 | SERPINA1 | c.1233A>C (p.Lys411Asn) c.*532A>C (n.*532A>C) | |
| 14 | g.94378474T>A | CA390847321 | SERPINA1 | c.1232A>T (p.Lys411Ile) c.*531A>T (n.*531A>T) | |
| 14 | g.94378474T>C | CA390847322 | SERPINA1 | c.1232A>G (p.Lys411Arg) c.*531A>G (n.*531A>G) | |
| 14 | g.94378474T>G | CA390847323 | SERPINA1 | c.1232A>C (p.Lys411Thr) c.*531A>C (n.*531A>C) | |
| 14 | g.94378475T>A | CA390847324 | SERPINA1 | c.1231A>T (p.Lys411Ter) c.*530A>T (n.*530A>T) | |
| 14 | g.94378475T>C | CA390847325 | SERPINA1 | c.1231A>G (p.Lys411Glu) c.*530A>G (n.*530A>G) | |
| 14 | g.94378475T>G | CA390847326 | SERPINA1 | c.1231A>C (p.Lys411Gln) c.*530A>C (n.*530A>C) | |
| 14 | g.94378476T>A | CA487621094 | SERPINA1 | c.1230A>T (p.Gly410=) c.*529A>T (n.*529A>T) | |
| 14 | g.94378476T>C | CA487621096 | SERPINA1 | c.1230A>G (p.Gly410=) c.*529A>G (n.*529A>G) | |
| 14 | g.94378476T>G | CA487621095 | SERPINA1 | c.1230A>C (p.Gly410=) c.*529A>C (n.*529A>C) | |
| 14 | g.94378477C>A | CA390847327 | SERPINA1 | c.1229G>T (p.Gly410Val) c.*528G>T (n.*528G>T) | |
| 14 | g.94378477C= | CA2155953374 | SERPINA1 | c.1229G= (p.Gly410=) c.*528G= (n.*528G=) | |
| 14 | g.94378477C>G | CA390847328 | SERPINA1 | c.1229G>C (p.Gly410Ala) c.*528G>C (n.*528G>C) | |
| 14 | g.94378477C>T | CA390847329 | SERPINA1 | c.1229G>A (p.Gly410Glu) c.*528G>A (n.*528G>A) | dbSNP COSMIC |
| 14 | g.94378478C>A | CA390847330 | SERPINA1 | c.1228G>T (p.Gly410Ter) c.*527G>T (n.*527G>T) | |
| 14 | g.94378478C>G | CA390847331 | SERPINA1 | c.1228G>C (p.Gly410Arg) c.*527G>C (n.*527G>C) |