Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94380925_94380941del | CA2695219657 | SERPINA1 | c.850_866del (p.Leu284Ter) | |
14 | g.94380933C>A | CA390848431 | SERPINA1 | c.855G>T (p.Gln285His) | |
14 | g.94380933C= | CA2155953864 | SERPINA1 | c.855G= (p.Gln285=) | |
14 | g.94380933C>G | CA390848432 | SERPINA1 | c.855G>C (p.Gln285His) | |
14 | g.94380933C>T | CA487840970 | SERPINA1 | c.855G>A (p.Gln285=) | dbSNP COSMIC |
14 | g.94380934T>A | CA390848433 | SERPINA1 | c.854A>T (p.Gln285Leu) | |
14 | g.94380934T>C | CA390848434 | SERPINA1 | c.854A>G (p.Gln285Arg) | |
14 | g.94380934T>G | CA390848435 | SERPINA1 | c.854A>C (p.Gln285Pro) | COSMIC |
14 | g.94380935G>A | CA390848436 | SERPINA1 | c.853C>T (p.Gln285Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.94380935G>C | CA390848438 | SERPINA1 | c.853C>G (p.Gln285Glu) | |
14 | g.94380935G= | CA2155953865 | SERPINA1 | c.853C= (p.Gln285=) | |
14 | g.94380935G>T | CA390848437 | SERPINA1 | c.853C>A (p.Gln285Lys) | |
14 | g.94380936T>A | CA487840975 | SERPINA1 | c.852A>T (p.Leu284=) | |
14 | g.94380936T>C | CA265863754 | SERPINA1 | c.852A>G (p.Leu284=) | dbSNP gnomAD v4 |
14 | g.94380936T>G | CA487840976 | SERPINA1 | c.852A>C (p.Leu284=) | |
14 | g.94380936T= | CA2155953866 | SERPINA1 | c.852A= (p.Leu284=) | |
14 | g.94380937A>C | CA390848439 | SERPINA1 | c.851T>G (p.Leu284Arg) | |
14 | g.94380937A>G | CA390848440 | SERPINA1 | c.851T>C (p.Leu284Pro) | dbSNP |
14 | g.94380937A>T | CA390848441 | SERPINA1 | c.851T>A (p.Leu284Gln) | |
14 | g.94380938G>A | CA7327392 | SERPINA1 | c.850C>T (p.Leu284=) | dbSNP ExAC |
14 | g.94380938G>C | CA390848443 | SERPINA1 | c.850C>G (p.Leu284Val) | |
14 | g.94380938G= | CA2155953867 | SERPINA1 | c.850C= (p.Leu284=) | |
14 | g.94380938G>T | CA390848442 | SERPINA1 | c.850C>A (p.Leu284Ile) | |
14 | g.94380939T>A | CA390848444 | SERPINA1 | c.849A>T (p.Lys283Asn) | |
14 | g.94380939T>C | CA487840977 | SERPINA1 | c.849A>G (p.Lys283=) | |
14 | g.94380939T>G | CA390848445 | SERPINA1 | c.849A>C (p.Lys283Asn) | |
14 | g.94380941del | CA487840978 | SERPINA1 | c.849del (p.Lys283AsnfsTer?) c.849del (p.Lys283AsnfsTer29) | COSMIC |
14 | g.94380940T>A | CA348043 | SERPINA1 | c.848A>T (p.Lys283Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94380940T>C | CA390848446 | SERPINA1 | c.848A>G (p.Lys283Arg) | |
14 | g.94380940T>G | CA390848447 | SERPINA1 | c.848A>C (p.Lys283Thr) | |
14 | g.94380940T= | CA2155953868 | SERPINA1 | c.848A= (p.Lys283=) | |
14 | g.94380941T>A | CA390848448 | SERPINA1 | c.847A>T (p.Lys283Ter) | ClinVar dbSNP gnomAD v4 |
14 | g.94380941T>C | CA390848449 | SERPINA1 | c.847A>G (p.Lys283Glu) | |
14 | g.94380941T>G | CA390848450 | SERPINA1 | c.847A>C (p.Lys283Gln) | |
14 | g.94380941T= | CA2155953869 | SERPINA1 | c.847A= (p.Lys283=) | |
14 | g.94380942C>A | CA7327393 | SERPINA1 | c.846G>T (p.Gly282=) | dbSNP ExAC gnomAD v2 |
14 | g.94380942C= | CA2155953870 | SERPINA1 | c.846G= (p.Gly282=) | |
14 | g.94380942C>G | CA487840980 | SERPINA1 | c.846G>C (p.Gly282=) | |
14 | g.94380942C>T | CA487840979 | SERPINA1 | c.846G>A (p.Gly282=) | gnomAD v4 |
14 | g.94380943C>A | CA390848451 | SERPINA1 | c.845G>T (p.Gly282Val) | |
14 | g.94380943C>G | CA390848452 | SERPINA1 | c.845G>C (p.Gly282Ala) | gnomAD v4 |
14 | g.94380943C>T | CA390848453 | SERPINA1 | c.845G>A (p.Gly282Glu) | gnomAD v4 |
14 | g.94380944C>A | CA390848455 | SERPINA1 | c.844G>T (p.Gly282Trp) | |
14 | g.94380944C= | CA2155953871 | SERPINA1 | c.844G= (p.Gly282=) | |
14 | g.94380944C>G | CA390848454 | SERPINA1 | c.844G>C (p.Gly282Arg) | |
14 | g.94380944C>T | CA7327394 | SERPINA1 | c.844G>A (p.Gly282Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380945C>A | CA390848456 | SERPINA1 | c.843G>T (p.Glu281Asp) | |
14 | g.94380945C= | CA2155953872 | SERPINA1 | c.843G= (p.Glu281=) | |
14 | g.94380945C>G | CA390848457 | SERPINA1 | c.843G>C (p.Glu281Asp) | |
14 | g.94380945C>T | CA487840981 | SERPINA1 | c.843G>A (p.Glu281=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |