Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
14 | g.94382922A>G | CA390850330 | SERPINA1 | c.316T>C (p.Phe106Leu) c.58T>C (p.Phe20Leu) | |
14 | g.94382922A>T | CA390850329 | SERPINA1 | c.316T>A (p.Phe106Ile) c.58T>A (p.Phe20Ile) | |
14 | g.94382923A>C | CA390850332 | SERPINA1 | c.315T>G (p.Asn105Lys) c.57T>G (p.Asn19Lys) | |
14 | g.94382923A>G | CA487841283 | SERPINA1 | c.315T>C (p.Asn105=) c.57T>C (p.Asn19=) | |
14 | g.94382923A>T | CA390850333 | SERPINA1 | c.315T>A (p.Asn105Lys) c.57T>A (p.Asn19Lys) | |
14 | g.94382924T>A | CA390850334 | SERPINA1 | c.314A>T (p.Asn105Ile) c.56A>T (p.Asn19Ile) | |
14 | g.94382924T>C | CA390850335 | SERPINA1 | c.314A>G (p.Asn105Ser) c.56A>G (p.Asn19Ser) | |
14 | g.94382924T>G | CA390850336 | SERPINA1 | c.314A>C (p.Asn105Thr) c.56A>C (p.Asn19Thr) | |
14 | g.94382925T>A | CA390850337 | SERPINA1 | c.313A>T (p.Asn105Tyr) c.55A>T (p.Asn19Tyr) | |
14 | g.94382925T>C | CA7327516 | SERPINA1 | c.313A>G (p.Asn105Asp) c.55A>G (p.Asn19Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382925T>G | CA390850338 | SERPINA1 | c.313A>C (p.Asn105His) c.55A>C (p.Asn19His) | |
14 | g.94382925T= | CA2155954846 | SERPINA1 | c.313A= (p.Asn105=) c.55A= (p.Asn19=) | |
14 | g.94382926C>A | CA487841290 | SERPINA1 | c.312G>T (p.Leu104=) c.54G>T (p.Leu18=) |