| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382850G>A | CA390850088 | SERPINA1 | c.388C>T (p.Pro130Ser) c.130C>T (p.Pro44Ser) | |
| 14 | g.94382850G>C | CA390850087 | SERPINA1 | c.388C>G (p.Pro130Ala) c.130C>G (p.Pro44Ala) | |
| 14 | g.94382850G>T | CA390850085 | SERPINA1 | c.388C>A (p.Pro130Thr) c.130C>A (p.Pro44Thr) | gnomAD v4 |
| 14 | g.94382851C>A | CA390850092 | SERPINA1 | c.387G>T (p.Gln129His) c.129G>T (p.Gln43His) | |
| 14 | g.94382851C= | CA2155954808 | SERPINA1 | c.387G= (p.Gln129=) c.129G= (p.Gln43=) | |
| 14 | g.94382851C>G | CA390850090 | SERPINA1 | c.387G>C (p.Gln129His) c.129G>C (p.Gln43His) | gnomAD v4 |
| 14 | g.94382851C>T | CA487841117 | SERPINA1 | c.387G>A (p.Gln129=) c.129G>A (p.Gln43=) | dbSNP gnomAD v2 |
| 14 | g.94382852T>A | CA390850093 | SERPINA1 | c.386A>T (p.Gln129Leu) c.128A>T (p.Gln43Leu) | |
| 14 | g.94382852T>C | CA390850095 | SERPINA1 | c.386A>G (p.Gln129Arg) c.128A>G (p.Gln43Arg) | dbSNP gnomAD v4 |
| 14 | g.94382852T>G | CA390850096 | SERPINA1 | c.386A>C (p.Gln129Pro) c.128A>C (p.Gln43Pro) | |
| 14 | g.94382852T= | CA2155954809 | SERPINA1 | c.386A= (p.Gln129=) c.128A= (p.Gln43=) | |
| 14 | g.94382853G>A | CA390850099 | SERPINA1 | c.385C>T (p.Gln129Ter) c.127C>T (p.Gln43Ter) | |
| 14 | g.94382853G>C | CA390850100 | SERPINA1 | c.385C>G (p.Gln129Glu) c.127C>G (p.Gln43Glu) | |
| 14 | g.94382853G= | CA2155954810 | SERPINA1 | c.385C= (p.Gln129=) c.127C= (p.Gln43=) | |
| 14 | g.94382853G>T | CA265864143 | SERPINA1 | c.385C>A (p.Gln129Lys) c.127C>A (p.Gln43Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382854G>A | CA487841119 | SERPINA1 | c.384C>T (p.Asn128=) c.126C>T (p.Asn42=) | gnomAD v4 |
| 14 | g.94382854G>C | CA390850102 | SERPINA1 | c.384C>G (p.Asn128Lys) c.126C>G (p.Asn42Lys) | |
| 14 | g.94382854G>T | CA390850103 | SERPINA1 | c.384C>A (p.Asn128Lys) c.126C>A (p.Asn42Lys) | |
| 14 | g.94382855T>A | CA390850105 | SERPINA1 | c.383A>T (p.Asn128Ile) c.125A>T (p.Asn42Ile) | gnomAD v4 |
| 14 | g.94382855T>C | CA390850107 | SERPINA1 | c.383A>G (p.Asn128Ser) c.125A>G (p.Asn42Ser) | gnomAD v4 |
| 14 | g.94382855T>G | CA390850108 | SERPINA1 | c.383A>C (p.Asn128Thr) c.125A>C (p.Asn42Thr) | |
| 14 | g.94382856T>A | CA390850110 | SERPINA1 | c.382A>T (p.Asn128Tyr) c.124A>T (p.Asn42Tyr) | |
| 14 | g.94382856T>C | CA390850112 | SERPINA1 | c.382A>G (p.Asn128Asp) c.124A>G (p.Asn42Asp) | |
| 14 | g.94382856T>G | CA390850109 | SERPINA1 | c.382A>C (p.Asn128His) c.124A>C (p.Asn42His) | |
| 14 | g.94382857G>A | CA7327507 | SERPINA1 | c.381C>T (p.Leu127=) c.123C>T (p.Leu41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382857G>C | CA487841122 | SERPINA1 | c.381C>G (p.Leu127=) c.123C>G (p.Leu41=) | |
| 14 | g.94382857G= | CA2155954811 | SERPINA1 | c.381C= (p.Leu127=) c.123C= (p.Leu41=) | |
| 14 | g.94382857G>T | CA487841121 | SERPINA1 | c.381C>A (p.Leu127=) c.123C>A (p.Leu41=) | |
| 14 | g.94382858A>C | CA390850115 | SERPINA1 | c.380T>G (p.Leu127Arg) c.122T>G (p.Leu41Arg) | |
| 14 | g.94382858A>G | CA390850116 | SERPINA1 | c.380T>C (p.Leu127Pro) c.122T>C (p.Leu41Pro) | |
| 14 | g.94382858A>T | CA390850117 | SERPINA1 | c.380T>A (p.Leu127His) c.122T>A (p.Leu41His) | |
| 14 | g.94382859G>A | CA390850121 | SERPINA1 | c.379C>T (p.Leu127Phe) c.121C>T (p.Leu41Phe) | gnomAD v4 |
| 14 | g.94382859G>C | CA390850119 | SERPINA1 | c.379C>G (p.Leu127Val) c.121C>G (p.Leu41Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382859G= | CA2155954812 | SERPINA1 | c.379C= (p.Leu127=) c.121C= (p.Leu41=) | |
| 14 | g.94382859G>T | CA390850118 | SERPINA1 | c.379C>A (p.Leu127Ile) c.121C>A (p.Leu41Ile) | COSMIC |
| 14 | g.94382860G>A | CA7327508 | SERPINA1 | c.378C>T (p.Thr126=) c.120C>T (p.Thr40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382860G>C | CA487841125 | SERPINA1 | c.378C>G (p.Thr126=) c.120C>G (p.Thr40=) | |
| 14 | g.94382860G= | CA2155954813 | SERPINA1 | c.378C= (p.Thr126=) c.120C= (p.Thr40=) | |
| 14 | g.94382860G>T | CA487841126 | SERPINA1 | c.378C>A (p.Thr126=) c.120C>A (p.Thr40=) | |
| 14 | g.94382861G>A | CA390850124 | SERPINA1 | c.377C>T (p.Thr126Ile) c.119C>T (p.Thr40Ile) | |
| 14 | g.94382861G>C | CA390850125 | SERPINA1 | c.377C>G (p.Thr126Ser) c.119C>G (p.Thr40Ser) | gnomAD v4 |
| 14 | g.94382861G>T | CA390850127 | SERPINA1 | c.377C>A (p.Thr126Asn) c.119C>A (p.Thr40Asn) | |
| 14 | g.94382862del | CA2695219661 | SERPINA1 | c.376del (p.Thr126ProfsTer11) c.118del (p.Thr40ProfsTer11) | |
| 14 | g.94382862T>A | CA390850129 | SERPINA1 | c.376A>T (p.Thr126Ser) c.118A>T (p.Thr40Ser) | |
| 14 | g.94382862T>C | CA390850131 | SERPINA1 | c.376A>G (p.Thr126Ala) c.118A>G (p.Thr40Ala) | |
| 14 | g.94382862T>G | CA390850132 | SERPINA1 | c.376A>C (p.Thr126Pro) c.118A>C (p.Thr40Pro) | |
| 14 | g.94382863A= | CA2155954814 | SERPINA1 | c.375T= (p.Arg125=) c.117T= (p.Arg39=) | |
| 14 | g.94382863A>C | CA487841128 | SERPINA1 | c.375T>G (p.Arg125=) c.117T>G (p.Arg39=) | |
| 14 | g.94382863A>G | CA487841129 | SERPINA1 | c.375T>C (p.Arg125=) c.117T>C (p.Arg39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382863A>T | CA487841130 | SERPINA1 | c.375T>A (p.Arg125=) c.117T>A (p.Arg39=) |