| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382908C>A | CA390850292 | SERPINA1 | c.330G>T (p.Glu110Asp) c.72G>T (p.Glu24Asp) | gnomAD v4 |
| 14 | g.94382908C>G | CA390850294 | SERPINA1 | c.330G>C (p.Glu110Asp) c.72G>C (p.Glu24Asp) | |
| 14 | g.94382908C>T | CA487841243 | SERPINA1 | c.330G>A (p.Glu110=) c.72G>A (p.Glu24=) | |
| 14 | g.94382909T>A | CA390850298 | SERPINA1 | c.329A>T (p.Glu110Val) c.71A>T (p.Glu24Val) | |
| 14 | g.94382909T>C | CA390850297 | SERPINA1 | c.329A>G (p.Glu110Gly) c.71A>G (p.Glu24Gly) | |
| 14 | g.94382909T>G | CA390850295 | SERPINA1 | c.329A>C (p.Glu110Ala) c.71A>C (p.Glu24Ala) | |
| 14 | g.94382910C>A | CA390850300 | SERPINA1 | c.328G>T (p.Glu110Ter) c.70G>T (p.Glu24Ter) | |
| 14 | g.94382910C>G | CA390850302 | SERPINA1 | c.328G>C (p.Glu110Gln) c.70G>C (p.Glu24Gln) | |
| 14 | g.94382910C>T | CA390850303 | SERPINA1 | c.328G>A (p.Glu110Lys) c.70G>A (p.Glu24Lys) | COSMIC |
| 14 | g.94382911C>A | CA487841244 | SERPINA1 | c.327G>T (p.Thr109=) c.69G>T (p.Thr23=) | dbSNP |
| 14 | g.94382911C= | CA2155954839 | SERPINA1 | c.327G= (p.Thr109=) c.69G= (p.Thr23=) | |
| 14 | g.94382911C>G | CA487841247 | SERPINA1 | c.327G>C (p.Thr109=) c.69G>C (p.Thr23=) | |
| 14 | g.94382911C>T | CA7327515 | SERPINA1 | c.327G>A (p.Thr109=) c.69G>A (p.Thr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382912G>A | CA127741 | SERPINA1 | c.326C>T (p.Thr109Met) c.68C>T (p.Thr23Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382912G>C | CA390850307 | SERPINA1 | c.326C>G (p.Thr109Arg) c.68C>G (p.Thr23Arg) | |
| 14 | g.94382912G= | CA2155954840 | SERPINA1 | c.326C= (p.Thr109=) c.68C= (p.Thr23=) | |
| 14 | g.94382912G>T | CA390850308 | SERPINA1 | c.326C>A (p.Thr109Lys) c.68C>A (p.Thr23Lys) | |
| 14 | g.94382913T>A | CA390850309 | SERPINA1 | c.325A>T (p.Thr109Ser) c.67A>T (p.Thr23Ser) | |
| 14 | g.94382913T>C | CA390850310 | SERPINA1 | c.325A>G (p.Thr109Ala) c.67A>G (p.Thr23Ala) | |
| 14 | g.94382913T>G | CA390850311 | SERPINA1 | c.325A>C (p.Thr109Pro) c.67A>C (p.Thr23Pro) | gnomAD v4 |
| 14 | g.94382914G>A | CA487841253 | SERPINA1 | c.324C>T (p.Leu108=) c.66C>T (p.Leu22=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382914G>C | CA487841254 | SERPINA1 | c.324C>G (p.Leu108=) c.66C>G (p.Leu22=) | |
| 14 | g.94382914G= | CA2155954841 | SERPINA1 | c.324C= (p.Leu108=) c.66C= (p.Leu22=) | |
| 14 | g.94382914G>T | CA487841255 | SERPINA1 | c.324C>A (p.Leu108=) c.66C>A (p.Leu22=) | |
| 14 | g.94382915A= | CA2155954842 | SERPINA1 | c.323T= (p.Leu108=) c.65T= (p.Leu22=) | |
| 14 | g.94382915A>C | CA265864158 | SERPINA1 | c.323T>G (p.Leu108Arg) c.65T>G (p.Leu22Arg) | dbSNP gnomAD v4 |
| 14 | g.94382915A>G | CA390850312 | SERPINA1 | c.323T>C (p.Leu108Pro) c.65T>C (p.Leu22Pro) | |
| 14 | g.94382915A>T | CA390850313 | SERPINA1 | c.323T>A (p.Leu108His) c.65T>A (p.Leu22His) | dbSNP |
| 14 | g.94382916G>A | CA390850315 | SERPINA1 | c.322C>T (p.Leu108Phe) c.64C>T (p.Leu22Phe) | |
| 14 | g.94382916G>C | CA265864160 | SERPINA1 | c.322C>G (p.Leu108Val) c.64C>G (p.Leu22Val) | dbSNP gnomAD v4 |
| 14 | g.94382916G= | CA2155954843 | SERPINA1 | c.322C= (p.Leu108=) c.64C= (p.Leu22=) | |
| 14 | g.94382916G>T | CA390850314 | SERPINA1 | c.322C>A (p.Leu108Ile) c.64C>A (p.Leu22Ile) | |
| 14 | g.94382917G>A | CA487841263 | SERPINA1 | c.321C>T (p.Asn107=) c.63C>T (p.Asn21=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94382917G>C | CA390850316 | SERPINA1 | c.321C>G (p.Asn107Lys) c.63C>G (p.Asn21Lys) | |
| 14 | g.94382917G= | CA2155954844 | SERPINA1 | c.321C= (p.Asn107=) c.63C= (p.Asn21=) | |
| 14 | g.94382917G>T | CA390850317 | SERPINA1 | c.321C>A (p.Asn107Lys) c.63C>A (p.Asn21Lys) | |
| 14 | g.94382918T>A | CA390850318 | SERPINA1 | c.320A>T (p.Asn107Ile) c.62A>T (p.Asn21Ile) | |
| 14 | g.94382918T>C | CA390850319 | SERPINA1 | c.320A>G (p.Asn107Ser) c.62A>G (p.Asn21Ser) | |
| 14 | g.94382918T>G | CA390850320 | SERPINA1 | c.320A>C (p.Asn107Thr) c.62A>C (p.Asn21Thr) | |
| 14 | g.94382919T>A | CA390850321 | SERPINA1 | c.319A>T (p.Asn107Tyr) c.61A>T (p.Asn21Tyr) | |
| 14 | g.94382919T>C | CA390850322 | SERPINA1 | c.319A>G (p.Asn107Asp) c.61A>G (p.Asn21Asp) | |
| 14 | g.94382919T>G | CA390850323 | SERPINA1 | c.319A>C (p.Asn107His) c.61A>C (p.Asn21His) | |
| 14 | g.94382920G>A | CA487841277 | SERPINA1 | c.318C>T (p.Phe106=) c.60C>T (p.Phe20=) | ClinVar dbSNP gnomAD v2 COSMIC |
| 14 | g.94382920G>C | CA390850324 | SERPINA1 | c.318C>G (p.Phe106Leu) c.60C>G (p.Phe20Leu) | |
| 14 | g.94382920G= | CA2155954845 | SERPINA1 | c.318C= (p.Phe106=) c.60C= (p.Phe20=) | |
| 14 | g.94382920G>T | CA390850325 | SERPINA1 | c.318C>A (p.Phe106Leu) c.60C>A (p.Phe20Leu) | dbSNP |
| 14 | g.94382921A>C | CA390850326 | SERPINA1 | c.317T>G (p.Phe106Cys) c.59T>G (p.Phe20Cys) | |
| 14 | g.94382921A>G | CA390850327 | SERPINA1 | c.317T>C (p.Phe106Ser) c.59T>C (p.Phe20Ser) | |
| 14 | g.94382921A>T | CA390850328 | SERPINA1 | c.317T>A (p.Phe106Tyr) c.59T>A (p.Phe20Tyr) | |
| 14 | g.94382922A>C | CA390850331 | SERPINA1 | c.316T>G (p.Phe106Val) c.58T>G (p.Phe20Val) |