Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94378527_94378528delinsAA | CA645582231 | SERPINA1 | c.1178_1179delinsTT (p.Pro393Leu) c.*477_*478delinsTT (n.*477_*478delinsTT) | COSMIC |
14 | g.94378529del | CA2695199864 | SERPINA1 | c.1179del (p.Phe394LeufsTer4) c.*478del (n.*478del) | ClinVar |
14 | g.94378528G>A | CA127662 | SERPINA1 | c.1178C>T (p.Pro393Leu) c.*477C>T (n.*477C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378528G>C | CA265860619 | SERPINA1 | c.1178C>G (p.Pro393Arg) c.*477C>G (n.*477C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94378528G= | CA2155953403 | SERPINA1 | c.1178C= (p.Pro393=) c.*477C= (n.*477C=) | |
14 | g.94378528G>T | CA7327255 | SERPINA1 | c.1178C>A (p.Pro393His) c.*477C>A (n.*477C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94378529G>A | CA7327256 | SERPINA1 | c.1177C>T (p.Pro393Ser) c.*476C>T (n.*476C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94378529G>C | CA390847567 | SERPINA1 | c.1177C>G (p.Pro393Ala) c.*476C>G (n.*476C>G) | gnomAD v4 |
14 | g.94378529G= | CA2155953404 | SERPINA1 | c.1177C= (p.Pro393=) c.*476C= (n.*476C=) | |
14 | g.94378529G>T | CA350451 | SERPINA1 | c.1177C>A (p.Pro393Thr) c.*476C>A (n.*476C>A) | ClinVar dbSNP gnomAD v4 |
14 | g.94378530T>A | CA390847568 | SERPINA1 | c.1176A>T (p.Lys392Asn) c.*475A>T (n.*475A>T) | |
14 | g.94378530T>C | CA487621126 | SERPINA1 | c.1176A>G (p.Lys392=) c.*475A>G (n.*475A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94378530T>G | CA390847569 | SERPINA1 | c.1176A>C (p.Lys392Asn) c.*475A>C (n.*475A>C) | COSMIC |
14 | g.94378530T= | CA2155953405 | SERPINA1 | c.1176A= (p.Lys392=) c.*475A= (n.*475A=) | |
14 | g.94378531T>A | CA390847570 | SERPINA1 | c.1175A>T (p.Lys392Ile) c.*474A>T (n.*474A>T) | |
14 | g.94378531T>C | CA390847571 | SERPINA1 | c.1175A>G (p.Lys392Arg) c.*474A>G (n.*474A>G) | gnomAD v2 |
14 | g.94378531T>G | CA390847572 | SERPINA1 | c.1175A>C (p.Lys392Thr) c.*474A>C (n.*474A>C) | |
14 | g.94378532T>A | CA390847573 | SERPINA1 | c.1174A>T (p.Lys392Ter) c.*473A>T (n.*473A>T) | |
14 | g.94378532T>C | CA390847574 | SERPINA1 | c.1174A>G (p.Lys392Glu) c.*473A>G (n.*473A>G) | |
14 | g.94378532T>G | CA390847575 | SERPINA1 | c.1174A>C (p.Lys392Gln) c.*473A>C (n.*473A>C) | gnomAD v2 gnomAD v4 |
14 | g.94378533G>A | CA265860623 | SERPINA1 | c.1173C>T (p.Asn391=) c.*472C>T (n.*472C>T) | dbSNP gnomAD v4 |
14 | g.94378533G>C | CA390847576 | SERPINA1 | c.1173C>G (p.Asn391Lys) c.*472C>G (n.*472C>G) | |
14 | g.94378533G= | CA2155953406 | SERPINA1 | c.1173C= (p.Asn391=) c.*472C= (n.*472C=) | |
14 | g.94378533G>T | CA390847577 | SERPINA1 | c.1173C>A (p.Asn391Lys) c.*472C>A (n.*472C>A) | |
14 | g.94378534T>A | CA390847578 | SERPINA1 | c.1172A>T (p.Asn391Ile) c.*471A>T (n.*471A>T) | |
14 | g.94378534T>C | CA390847579 | SERPINA1 | c.1172A>G (p.Asn391Ser) c.*471A>G (n.*471A>G) | |
14 | g.94378534T>G | CA390847580 | SERPINA1 | c.1172A>C (p.Asn391Thr) c.*471A>C (n.*471A>C) | |
14 | g.94378535T>A | CA390847583 | SERPINA1 | c.1171A>T (p.Asn391Tyr) c.*470A>T (n.*470A>T) | |
14 | g.94378535T>C | CA390847581 | SERPINA1 | c.1171A>G (p.Asn391Asp) c.*470A>G (n.*470A>G) | |
14 | g.94378535T>G | CA390847582 | SERPINA1 | c.1171A>C (p.Asn391His) c.*470A>C (n.*470A>C) | |
14 | g.94378536G>A | CA487621127 | SERPINA1 | c.1170C>T (p.Phe390=) c.*469C>T (n.*469C>T) | |
14 | g.94378536G>C | CA390847584 | SERPINA1 | c.1170C>G (p.Phe390Leu) c.*469C>G (n.*469C>G) | |
14 | g.94378536G>T | CA390847585 | SERPINA1 | c.1170C>A (p.Phe390Leu) c.*469C>A (n.*469C>A) | |
14 | g.94378537A>C | CA390847586 | SERPINA1 | c.1169T>G (p.Phe390Cys) c.*468T>G (n.*468T>G) | |
14 | g.94378537A>G | CA390847587 | SERPINA1 | c.1169T>C (p.Phe390Ser) c.*468T>C (n.*468T>C) | |
14 | g.94378537A>T | CA390847588 | SERPINA1 | c.1169T>A (p.Phe390Tyr) c.*468T>A (n.*468T>A) | |
14 | g.94378538A>C | CA390847589 | SERPINA1 | c.1168T>G (p.Phe390Val) c.*467T>G (n.*467T>G) | |
14 | g.94378538A>G | CA390847590 | SERPINA1 | c.1168T>C (p.Phe390Leu) c.*467T>C (n.*467T>C) | |
14 | g.94378538A>T | CA390847591 | SERPINA1 | c.1168T>A (p.Phe390Ile) c.*467T>A (n.*467T>A) | |
14 | g.94378539C>A | CA390847592 | SERPINA1 | c.1167G>T (p.Lys389Asn) c.*466G>T (n.*466G>T) | |
14 | g.94378539C>G | CA390847593 | SERPINA1 | c.1167G>C (p.Lys389Asn) c.*466G>C (n.*466G>C) | |
14 | g.94378539C>T | CA487621128 | SERPINA1 | c.1167G>A (p.Lys389=) c.*466G>A (n.*466G>A) | gnomAD v4 |
14 | g.94378540T>A | CA390847594 | SERPINA1 | c.1166A>T (p.Lys389Met) c.*465A>T (n.*465A>T) | |
14 | g.94378540T>C | CA390847595 | SERPINA1 | c.1166A>G (p.Lys389Arg) c.*465A>G (n.*465A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94378540T>G | CA390847596 | SERPINA1 | c.1166A>C (p.Lys389Thr) c.*465A>C (n.*465A>C) | |
14 | g.94378540T= | CA2155953407 | SERPINA1 | c.1166A= (p.Lys389=) c.*465A= (n.*465A=) | |
14 | g.94378541T>A | CA390847598 | SERPINA1 | c.1165A>T (p.Lys389Ter) c.*464A>T (n.*464A>T) | |
14 | g.94378541T>C | CA390847599 | SERPINA1 | c.1165A>G (p.Lys389Glu) c.*464A>G (n.*464A>G) | |
14 | g.94378541T>G | CA390847597 | SERPINA1 | c.1165A>C (p.Lys389Gln) c.*464A>C (n.*464A>C) | |
14 | g.94378542G>A | CA487621129 | SERPINA1 | c.1164C>T (p.Val388=) c.*463C>T (n.*463C>T) |