| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382946_94382950delinsCGTGA | CA2155954853 | SERPINA1 | c.288_292delinsTCACG (p.Thr96=) c.30_34delinsTCACG (p.Thr10=) | |
| 14 | g.94382950_94382953del | CA16040627 | SERPINA1 | c.288_291del (p.His97MetfsTer7) c.30_33del (p.His11MetfsTer7) | ClinVar dbSNP |
| 14 | g.94382950A= | CA2155954856 | SERPINA1 | c.288T= (p.Thr96=) c.30T= (p.Thr10=) | |
| 14 | g.94382950A>C | CA487841341 | SERPINA1 | c.288T>G (p.Thr96=) c.30T>G (p.Thr10=) | |
| 14 | g.94382950A>G | CA487841342 | SERPINA1 | c.288T>C (p.Thr96=) c.30T>C (p.Thr10=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382950A>T | CA487841343 | SERPINA1 | c.288T>A (p.Thr96=) c.30T>A (p.Thr10=) | |
| 14 | g.94382951G>A | CA390850393 | SERPINA1 | c.287C>T (p.Thr96Ile) c.29C>T (p.Thr10Ile) | dbSNP COSMIC |
| 14 | g.94382951G>C | CA390850392 | SERPINA1 | c.287C>G (p.Thr96Ser) c.29C>G (p.Thr10Ser) | |
| 14 | g.94382951G= | CA2155954857 | SERPINA1 | c.287C= (p.Thr96=) c.29C= (p.Thr10=) | |
| 14 | g.94382951G>T | CA390850391 | SERPINA1 | c.287C>A (p.Thr96Asn) c.29C>A (p.Thr10Asn) | gnomAD v4 |
| 14 | g.94382953_94382954dup | CA2695219662 | SERPINA1 | c.286_287dup (p.His97LeufsTer9) c.28_29dup (p.His11LeufsTer9) | |
| 14 | g.94382952T>A | CA390850394 | SERPINA1 | c.286A>T (p.Thr96Ser) c.28A>T (p.Thr10Ser) | |
| 14 | g.94382952T>C | CA7327518 | SERPINA1 | c.286A>G (p.Thr96Ala) c.28A>G (p.Thr10Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382952T>G | CA390850395 | SERPINA1 | c.286A>C (p.Thr96Pro) c.28A>C (p.Thr10Pro) | |
| 14 | g.94382952T= | CA2155954858 | SERPINA1 | c.286A= (p.Thr96=) c.28A= (p.Thr10=) | |
| 14 | g.94382953G>A | CA487841348 | SERPINA1 | c.285C>T (p.Asp95=) c.27C>T (p.Asp9=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382953G>C | CA390850396 | SERPINA1 | c.285C>G (p.Asp95Glu) c.27C>G (p.Asp9Glu) | |
| 14 | g.94382953G= | CA2155954859 | SERPINA1 | c.285C= (p.Asp95=) c.27C= (p.Asp9=) | |
| 14 | g.94382953G>T | CA265864168 | SERPINA1 | c.285C>A (p.Asp95Glu) c.27C>A (p.Asp9Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382954T>A | CA390850397 | SERPINA1 | c.284A>T (p.Asp95Val) c.26A>T (p.Asp9Val) | |
| 14 | g.94382954T>C | CA390850398 | SERPINA1 | c.284A>G (p.Asp95Gly) c.26A>G (p.Asp9Gly) | |
| 14 | g.94382954T>G | CA390850399 | SERPINA1 | c.284A>C (p.Asp95Ala) c.26A>C (p.Asp9Ala) | |
| 14 | g.94382955C>A | CA390850400 | SERPINA1 | c.283G>T (p.Asp95Tyr) c.25G>T (p.Asp9Tyr) | |
| 14 | g.94382955C= | CA2155954860 | SERPINA1 | c.283G= (p.Asp95=) c.25G= (p.Asp9=) | |
| 14 | g.94382955C>G | CA390850401 | SERPINA1 | c.283G>C (p.Asp95His) c.25G>C (p.Asp9His) | |
| 14 | g.94382955C>T | CA390850402 | SERPINA1 | c.283G>A (p.Asp95Asn) c.25G>A (p.Asp9Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382956A>C | CA487841352 | SERPINA1 | c.282T>G (p.Ala94=) c.24T>G (p.Ala8=) | |
| 14 | g.94382956A>G | CA487841353 | SERPINA1 | c.282T>C (p.Ala94=) c.24T>C (p.Ala8=) | |
| 14 | g.94382956A>T | CA487841354 | SERPINA1 | c.282T>A (p.Ala94=) c.24T>A (p.Ala8=) | |
| 14 | g.94382957G>A | CA390850405 | SERPINA1 | c.281C>T (p.Ala94Val) c.23C>T (p.Ala8Val) | |
| 14 | g.94382957G>C | CA390850404 | SERPINA1 | c.281C>G (p.Ala94Gly) c.23C>G (p.Ala8Gly) | dbSNP |
| 14 | g.94382957G= | CA2155954861 | SERPINA1 | c.281C= (p.Ala94=) c.23C= (p.Ala8=) | |
| 14 | g.94382957G>T | CA390850403 | SERPINA1 | c.281C>A (p.Ala94Asp) c.23C>A (p.Ala8Asp) | |
| 14 | g.94382958C>A | CA390850406 | SERPINA1 | c.280G>T (p.Ala94Ser) c.22G>T (p.Ala8Ser) | gnomAD v4 |
| 14 | g.94382958C= | CA2155954862 | SERPINA1 | c.280G= (p.Ala94=) c.22G= (p.Ala8=) | |
| 14 | g.94382958C>G | CA390850407 | SERPINA1 | c.280G>C (p.Ala94Pro) c.22G>C (p.Ala8Pro) | |
| 14 | g.94382958C>T | CA390850408 | SERPINA1 | c.280G>A (p.Ala94Thr) c.22G>A (p.Ala8Thr) | dbSNP |
| 14 | g.94382959C>A | CA390850409 | SERPINA1 | c.279G>T (p.Lys93Asn) c.21G>T (p.Lys7Asn) | |
| 14 | g.94382959C>G | CA390850410 | SERPINA1 | c.279G>C (p.Lys93Asn) c.21G>C (p.Lys7Asn) | |
| 14 | g.94382959C>T | CA487841359 | SERPINA1 | c.279G>A (p.Lys93=) c.21G>A (p.Lys7=) | ClinVar |
| 14 | g.94382960T>A | CA390850411 | SERPINA1 | c.278A>T (p.Lys93Met) c.278A>T c.20A>T (p.Lys7Met) | |
| 14 | g.94382960T>C | CA390850412 | SERPINA1 | c.278A>G (p.Lys93Arg) c.278A>G c.20A>G (p.Lys7Arg) | |
| 14 | g.94382960T>G | CA390850413 | SERPINA1 | c.278A>C (p.Lys93Thr) c.278A>C c.20A>C (p.Lys7Thr) | |
| 14 | g.94382961T>A | CA390850414 | SERPINA1 | c.277A>T (p.Lys93Ter) c.277A>T c.19A>T (p.Lys7Ter) | |
| 14 | g.94382961T>C | CA390850415 | SERPINA1 | c.277A>G (p.Lys93Glu) c.277A>G c.19A>G (p.Lys7Glu) | |
| 14 | g.94382961T>G | CA390850416 | SERPINA1 | c.277A>C (p.Lys93Gln) c.277A>C c.19A>C (p.Lys7Gln) | |
| 14 | g.94382962G>A | CA487841366 | SERPINA1 | c.276C>T (p.Thr92=) c.18C>T (p.Thr6=) | |
| 14 | g.94382962G>C | CA487841367 | SERPINA1 | c.276C>G (p.Thr92=) c.18C>G (p.Thr6=) | dbSNP gnomAD v2 |
| 14 | g.94382962G= | CA2155954863 | SERPINA1 | c.276C= (p.Thr92=) c.18C= (p.Thr6=) | |
| 14 | g.94382962G>T | CA487841368 | SERPINA1 | c.276C>A (p.Thr92=) c.18C>A (p.Thr6=) |