| 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.94378490del | CA2626279418 | SERPINA1 | c.1219del (p.Leu407SerfsTer7) c.*518del (n.*518del) | gnomAD v4 |
| 14 | g.94378490G>A | CA390847391 | SERPINA1 | c.1216C>T (p.Pro406Ser) c.*515C>T (n.*515C>T) | COSMIC |
| 14 | g.94378490G>C | CA390847392 | SERPINA1 | c.1216C>G (p.Pro406Ala) c.*515C>G (n.*515C>G) | |
| 14 | g.94378490G= | CA2155953381 | SERPINA1 | c.1216C= (p.Pro406=) c.*515C= (n.*515C=) | |
| 14 | g.94378490G>T | CA7327249 | SERPINA1 | c.1216C>A (p.Pro406Thr) c.*515C>A (n.*515C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378491A>C | CA487621103 | SERPINA1 | c.1215T>G (p.Ser405=) c.*514T>G (n.*514T>G) | |
| 14 | g.94378491A>G | CA487621104 | SERPINA1 | c.1215T>C (p.Ser405=) c.*514T>C (n.*514T>C) | |
| 14 | g.94378491A>T | CA487621105 | SERPINA1 | c.1215T>A (p.Ser405=) c.*514T>A (n.*514T>A) | |
| 14 | g.94378492G>A | CA390847396 | SERPINA1 | c.1214C>T (p.Ser405Phe) c.*513C>T (n.*513C>T) | dbSNP |
| 14 | g.94378492G>C | CA390847400 | SERPINA1 | c.1214C>G (p.Ser405Cys) c.*513C>G (n.*513C>G) | |
| 14 | g.94378492G= | CA2155953382 | SERPINA1 | c.1214C= (p.Ser405=) c.*513C= (n.*513C=) | |
| 14 | g.94378492G>T | CA265860597 | SERPINA1 | c.1214C>A (p.Ser405Tyr) c.*513C>A (n.*513C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378493A>C | CA390847403 | SERPINA1 | c.1213T>G (p.Ser405Ala) c.*512T>G (n.*512T>G) | |
| 14 | g.94378493A>G | CA390847407 | SERPINA1 | c.1213T>C (p.Ser405Pro) c.*512T>C (n.*512T>C) | |
| 14 | g.94378493A>T | CA390847405 | SERPINA1 | c.1213T>A (p.Ser405Thr) c.*512T>A (n.*512T>A) | |
| 14 | g.94378494C>A | CA390847408 | SERPINA1 | c.1212G>T (p.Lys404Asn) c.*511G>T (n.*511G>T) | dbSNP |
| 14 | g.94378494C>G | CA390847409 | SERPINA1 | c.1212G>C (p.Lys404Asn) c.*511G>C (n.*511G>C) | gnomAD v4 |
| 14 | g.94378494C>T | CA487621106 | SERPINA1 | c.1212G>A (p.Lys404=) c.*511G>A (n.*511G>A) | |
| 14 | g.94378495T>A | CA390847411 | SERPINA1 | c.1211A>T (p.Lys404Met) c.*510A>T (n.*510A>T) | |
| 14 | g.94378495T>C | CA7327250 | SERPINA1 | c.1211A>G (p.Lys404Arg) c.*510A>G (n.*510A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378495T>G | CA265860599 | SERPINA1 | c.1211A>C (p.Lys404Thr) c.*510A>C (n.*510A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378495T= | CA2155953383 | SERPINA1 | c.1211A= (p.Lys404=) c.*510A= (n.*510A=) | |
| 14 | g.94378496T>A | CA390847420 | SERPINA1 | c.1210A>T (p.Lys404Ter) c.*509A>T (n.*509A>T) | |
| 14 | g.94378496T>C | CA390847418 | SERPINA1 | c.1210A>G (p.Lys404Glu) c.*509A>G (n.*509A>G) | |
| 14 | g.94378496T>G | CA390847416 | SERPINA1 | c.1210A>C (p.Lys404Gln) c.*509A>C (n.*509A>C) | |
| 14 | g.94378497G>A | CA487621107 | SERPINA1 | c.1209C>T (p.Thr403=) c.*508C>T (n.*508C>T) | |
| 14 | g.94378497G>C | CA487621108 | SERPINA1 | c.1209C>G (p.Thr403=) c.*508C>G (n.*508C>G) | |
| 14 | g.94378497G>T | CA487621109 | SERPINA1 | c.1209C>A (p.Thr403=) c.*508C>A (n.*508C>A) | gnomAD v4 |
| 14 | g.94378498G>A | CA350154 | SERPINA1 | c.1208C>T (p.Thr403Ile) c.*507C>T (n.*507C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378498G>C | CA7327251 | SERPINA1 | c.1208C>G (p.Thr403Ser) c.*507C>G (n.*507C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378498G= | CA2155953384 | SERPINA1 | c.1208C= (p.Thr403=) c.*507C= (n.*507C=) | |
| 14 | g.94378498G>T | CA390847425 | SERPINA1 | c.1208C>A (p.Thr403Asn) c.*507C>A (n.*507C>A) | dbSNP |
| 14 | g.94378499T>A | CA390847428 | SERPINA1 | c.1207A>T (p.Thr403Ser) c.*506A>T (n.*506A>T) | |
| 14 | g.94378499T>C | CA390847430 | SERPINA1 | c.1207A>G (p.Thr403Ala) c.*506A>G (n.*506A>G) | dbSNP gnomAD v4 |
| 14 | g.94378499T>G | CA390847432 | SERPINA1 | c.1207A>C (p.Thr403Pro) c.*506A>C (n.*506A>C) | |
| 14 | g.94378499T= | CA2155953385 | SERPINA1 | c.1207A= (p.Thr403=) c.*506A= (n.*506A=) | |
| 14 | g.94378500A= | CA2155953387 | SERPINA1 | c.1206T= (p.Asn402=) c.*505T= (n.*505T=) | |
| 14 | g.94378500A>C | CA390847435 | SERPINA1 | c.1206T>G (p.Asn402Lys) c.*505T>G (n.*505T>G) | |
| 14 | g.94378500A>G | CA7327252 | SERPINA1 | c.1206T>C (p.Asn402=) c.*505T>C (n.*505T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378500A>T | CA390847437 | SERPINA1 | c.1206T>A (p.Asn402Lys) c.*505T>A (n.*505T>A) | |
| 14 | g.94378500_94378501delinsAT | CA2155953386 | SERPINA1 | c.1205_1206delinsAT (p.Asn402=) c.*504_*505delinsAT (n.*504_*505delinsAT) | |
| 14 | g.94378501T>A | CA390847442 | SERPINA1 | c.1205A>T (p.Asn402Ile) c.*504A>T (n.*504A>T) | |
| 14 | g.94378501T>C | CA390847445 | SERPINA1 | c.1205A>G (p.Asn402Ser) c.*504A>G (n.*504A>G) | |
| 14 | g.94378501T>G | CA390847447 | SERPINA1 | c.1205A>C (p.Asn402Thr) c.*504A>C (n.*504A>C) | |
| 14 | g.94378504del | CA616114972 | SERPINA1 | c.1205del (p.Asn402IlefsTer12) c.*504del (n.*504del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378502T>A | CA390847449 | SERPINA1 | c.1204A>T (p.Asn402Tyr) c.*503A>T (n.*503A>T) | |
| 14 | g.94378502T>C | CA390847452 | SERPINA1 | c.1204A>G (p.Asn402Asp) c.*503A>G (n.*503A>G) | |
| 14 | g.94378502T>G | CA390847454 | SERPINA1 | c.1204A>C (p.Asn402His) c.*503A>C (n.*503A>C) | |
| 14 | g.94378503T>A | CA390847457 | SERPINA1 | c.1203A>T (p.Gln401His) c.*502A>T (n.*502A>T) |