| 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.94378455T>A | CA390847282 | SERPINA1 | c.1251A>T (p.Gln417His) c.*550A>T (n.*550A>T) | |
| 14 | g.94378455T>C | CA265860585 | SERPINA1 | c.1251A>G (p.Gln417=) c.*550A>G (n.*550A>G) | dbSNP |
| 14 | g.94378455T>G | CA390847281 | SERPINA1 | c.1251A>C (p.Gln417His) c.*550A>C (n.*550A>C) | |
| 14 | g.94378455T= | CA2155953365 | SERPINA1 | c.1251A= (p.Gln417=) c.*550A= (n.*550A=) | |
| 14 | g.94378456T>A | CA7327245 | SERPINA1 | c.1250A>T (p.Gln417Leu) c.*549A>T (n.*549A>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.94378456T>C | CA390847283 | SERPINA1 | c.1250A>G (p.Gln417Arg) c.*549A>G (n.*549A>G) | |
| 14 | g.94378456T>G | CA390847284 | SERPINA1 | c.1250A>C (p.Gln417Pro) c.*549A>C (n.*549A>C) | gnomAD v4 |
| 14 | g.94378456T= | CA2155953366 | SERPINA1 | c.1250A= (p.Gln417=) c.*549A= (n.*549A=) | |
| 14 | g.94378457G>A | CA390847285 | SERPINA1 | c.1249C>T (p.Gln417Ter) c.*548C>T (n.*548C>T) | |
| 14 | g.94378457G>C | CA390847286 | SERPINA1 | c.1249C>G (p.Gln417Glu) c.*548C>G (n.*548C>G) | |
| 14 | g.94378457G= | CA2155953367 | SERPINA1 | c.1249C= (p.Gln417=) c.*548C= (n.*548C=) | |
| 14 | g.94378457G>T | CA390847287 | SERPINA1 | c.1249C>A (p.Gln417Lys) c.*548C>A (n.*548C>A) | dbSNP gnomAD v4 |
| 14 | g.94378458G>A | CA487621072 | SERPINA1 | c.1248C>T (p.Thr416=) c.*547C>T (n.*547C>T) | dbSNP gnomAD v4 |
| 14 | g.94378458G>C | CA487621073 | SERPINA1 | c.1248C>G (p.Thr416=) c.*547C>G (n.*547C>G) | |
| 14 | g.94378458G= | CA2155953368 | SERPINA1 | c.1248C= (p.Thr416=) c.*547C= (n.*547C=) | |
| 14 | g.94378458G>T | CA487621074 | SERPINA1 | c.1248C>A (p.Thr416=) c.*547C>A (n.*547C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378459G>A | CA390847288 | SERPINA1 | c.1247C>T (p.Thr416Ile) c.*546C>T (n.*546C>T) | |
| 14 | g.94378459G>C | CA390847290 | SERPINA1 | c.1247C>G (p.Thr416Ser) c.*546C>G (n.*546C>G) | |
| 14 | g.94378459G>T | CA390847289 | SERPINA1 | c.1247C>A (p.Thr416Asn) c.*546C>A (n.*546C>A) | |
| 14 | g.94378460T>A | CA390847291 | SERPINA1 | c.1246A>T (p.Thr416Ser) c.*545A>T (n.*545A>T) | |
| 14 | g.94378460T>C | CA390847292 | SERPINA1 | c.1246A>G (p.Thr416Ala) c.*545A>G (n.*545A>G) | |
| 14 | g.94378460T>G | CA265860588 | SERPINA1 | c.1246A>C (p.Thr416Pro) c.*545A>C (n.*545A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378460T= | CA2155953369 | SERPINA1 | c.1246A= (p.Thr416=) c.*545A= (n.*545A=) | |
| 14 | g.94378460_94378461delinsTG | CA2155953370 | SERPINA1 | c.1245_1246delinsCA (p.Pro415=) c.*544_*545delinsCA (n.*544_*545delinsCA) | |
| 14 | g.94378461G>A | CA487621077 | SERPINA1 | c.1245C>T (p.Pro415=) c.*544C>T (n.*544C>T) | gnomAD v4 |
| 14 | g.94378461G>C | CA487621078 | SERPINA1 | c.1245C>G (p.Pro415=) c.*544C>G (n.*544C>G) | |
| 14 | g.94378461G>T | CA487621079 | SERPINA1 | c.1245C>A (p.Pro415=) c.*544C>A (n.*544C>A) | |
| 14 | g.94378463del | CA616114970 | SERPINA1 | c.1245del (p.Thr416ProfsTer?) c.*544del (n.*544del) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378462G>A | CA390847293 | SERPINA1 | c.1244C>T (p.Pro415Leu) c.*543C>T (n.*543C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378462G>C | CA390847294 | SERPINA1 | c.1244C>G (p.Pro415Arg) c.*543C>G (n.*543C>G) | |
| 14 | g.94378462G>T | CA390847295 | SERPINA1 | c.1244C>A (p.Pro415His) c.*543C>A (n.*543C>A) | |
| 14 | g.94378463G>A | CA390847296 | SERPINA1 | c.1243C>T (p.Pro415Ser) c.*542C>T (n.*542C>T) | |
| 14 | g.94378463G>C | CA390847297 | SERPINA1 | c.1243C>G (p.Pro415Ala) c.*542C>G (n.*542C>G) | |
| 14 | g.94378463G>T | CA390847298 | SERPINA1 | c.1243C>A (p.Pro415Thr) c.*542C>A (n.*542C>A) | |
| 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 |