| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378561_94378568delinsATGGGTAT | CA2155953423 | SERPINA1 | c.1138_1145delinsATACCCAT (p.Ile380=) c.*437_*444delinsATACCCAT (n.*437_*444delinsATACCCAT) | |
| 14 | g.94378562T>A | CA265860645 | SERPINA1 | c.1144A>T (p.Met382Leu) c.*443A>T (n.*443A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378562T>C | CA390847684 | SERPINA1 | c.1144A>G (p.Met382Val) c.*443A>G (n.*443A>G) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378562T>G | CA390847687 | SERPINA1 | c.1144A>C (p.Met382Leu) c.*443A>C (n.*443A>C) | gnomAD v4 |
| 14 | g.94378562T= | CA2155953424 | SERPINA1 | c.1144A= (p.Met382=) c.*443A= (n.*443A=) | |
| 14 | g.94378562_94378568del | CA616114981 | SERPINA1 | c.1138_1144del (p.Ile380CysfsTer16) c.*437_*443del (n.*437_*443del) | dbSNP gnomAD v2 |
| 14 | g.94378563G>A | CA487621141 | SERPINA1 | c.1143C>T (p.Pro381=) c.*442C>T (n.*442C>T) | gnomAD v4 |
| 14 | g.94378563G>C | CA487621142 | SERPINA1 | c.1143C>G (p.Pro381=) c.*442C>G (n.*442C>G) | |
| 14 | g.94378563G>T | CA487621143 | SERPINA1 | c.1143C>A (p.Pro381=) c.*442C>A (n.*442C>A) | |
| 14 | g.94378564G>A | CA390847690 | SERPINA1 | c.1142C>T (p.Pro381Leu) c.*441C>T (n.*441C>T) | |
| 14 | g.94378564G>C | CA390847692 | SERPINA1 | c.1142C>G (p.Pro381Arg) c.*441C>G (n.*441C>G) | |
| 14 | g.94378564G>T | CA390847694 | SERPINA1 | c.1142C>A (p.Pro381His) c.*441C>A (n.*441C>A) | gnomAD v4 |
| 14 | g.94378565G>A | CA390847697 | SERPINA1 | c.1141C>T (p.Pro381Ser) c.*440C>T (n.*440C>T) | |
| 14 | g.94378565G>C | CA390847699 | SERPINA1 | c.1141C>G (p.Pro381Ala) c.*440C>G (n.*440C>G) | |
| 14 | g.94378565G>T | CA390847701 | SERPINA1 | c.1141C>A (p.Pro381Thr) c.*440C>A (n.*440C>A) | |
| 14 | g.94378566T>A | CA487621144 | SERPINA1 | c.1140A>T (p.Ile380=) c.*439A>T (n.*439A>T) | |
| 14 | g.94378566T>C | CA390847704 | SERPINA1 | c.1140A>G (p.Ile380Met) c.*439A>G (n.*439A>G) | |
| 14 | g.94378566T>G | CA487621145 | SERPINA1 | c.1140A>C (p.Ile380=) c.*439A>C (n.*439A>C) | |
| 14 | g.94378567A>C | CA390847707 | SERPINA1 | c.1139T>G (p.Ile380Arg) c.*438T>G (n.*438T>G) | |
| 14 | g.94378567A>G | CA390847709 | SERPINA1 | c.1139T>C (p.Ile380Thr) c.*438T>C (n.*438T>C) | ClinVar |
| 14 | g.94378567A>T | CA390847711 | SERPINA1 | c.1139T>A (p.Ile380Lys) c.*438T>A (n.*438T>A) | |
| 14 | g.94378568T>A | CA390847713 | SERPINA1 | c.1138A>T (p.Ile380Leu) c.*437A>T (n.*437A>T) | |
| 14 | g.94378568T>C | CA390847716 | SERPINA1 | c.1138A>G (p.Ile380Val) c.*437A>G (n.*437A>G) | gnomAD v2 gnomAD v4 |
| 14 | g.94378568T>G | CA390847718 | SERPINA1 | c.1138A>C (p.Ile380Leu) c.*437A>C (n.*437A>C) | |
| 14 | g.94378568T= | CA2155953425 | SERPINA1 | c.1138A= (p.Ile380=) c.*437A= (n.*437A=) | |
| 14 | g.94378569G>A | CA487621148 | SERPINA1 | c.1137C>T (p.Ala379=) c.*436C>T (n.*436C>T) | |
| 14 | g.94378569G>C | CA487621147 | SERPINA1 | c.1137C>G (p.Ala379=) c.*436C>G (n.*436C>G) | |
| 14 | g.94378569G>T | CA487621146 | SERPINA1 | c.1137C>A (p.Ala379=) c.*436C>A (n.*436C>A) | |
| 14 | g.94378570G>A | CA390847719 | SERPINA1 | c.1136C>T (p.Ala379Val) c.*435C>T (n.*435C>T) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378570G>C | CA390847720 | SERPINA1 | c.1136C>G (p.Ala379Gly) c.*435C>G (n.*435C>G) | |
| 14 | g.94378570G= | CA2155953427 | SERPINA1 | c.1136C= (p.Ala379=) c.*435C= (n.*435C=) | |
| 14 | g.94378570G>T | CA390847721 | SERPINA1 | c.1136C>A (p.Ala379Asp) c.*435C>A (n.*435C>A) | ClinVar gnomAD v4 |
| 14 | g.94378570_94378571delinsGC | CA2155953426 | SERPINA1 | c.1135_1136delinsGC (p.Ala379=) c.*434_*435delinsGC (n.*434_*435delinsGC) | |
| 14 | g.94378571C>A | CA390847722 | SERPINA1 | c.1135G>T (p.Ala379Ser) c.*434G>T (n.*434G>T) | gnomAD v4 |
| 14 | g.94378571C= | CA2155953428 | SERPINA1 | c.1135G= (p.Ala379=) c.*434G= (n.*434G=) | |
| 14 | g.94378571C>G | CA390847723 | SERPINA1 | c.1135G>C (p.Ala379Pro) c.*434G>C (n.*434G>C) | |
| 14 | g.94378571C>T | CA7327265 | SERPINA1 | c.1135G>A (p.Ala379Thr) c.*434G>A (n.*434G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378572del | CA710093451 | SERPINA1 | c.1135del (p.Ala379ProfsTer19) c.*434del (n.*434del) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378572C>A | CA390847724 | SERPINA1 | c.1134G>T (p.Glu378Asp) c.*433G>T (n.*433G>T) | |
| 14 | g.94378572C= | CA2155953429 | SERPINA1 | c.1134G= (p.Glu378=) c.*433G= (n.*433G=) | |
| 14 | g.94378572C>G | CA390847725 | SERPINA1 | c.1134G>C (p.Glu378Asp) c.*433G>C (n.*433G>C) | |
| 14 | g.94378572C>T | CA7327266 | SERPINA1 | c.1134G>A (p.Glu378=) c.*433G>A (n.*433G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378573T>A | CA390847726 | SERPINA1 | c.1133A>T (p.Glu378Val) c.*432A>T (n.*432A>T) | |
| 14 | g.94378573T>C | CA390847727 | SERPINA1 | c.1133A>G (p.Glu378Gly) c.*432A>G (n.*432A>G) | |
| 14 | g.94378573T>G | CA390847728 | SERPINA1 | c.1133A>C (p.Glu378Ala) c.*432A>C (n.*432A>C) | |
| 14 | g.94378573dup | CA616114986 | SERPINA1 | c.1133dup (p.Ala379GlyfsTer22) c.*432dup (n.*432dup) | dbSNP gnomAD v2 |
| 14 | g.94378574C>A | CA390847729 | SERPINA1 | c.1132G>T (p.Glu378Ter) c.*431G>T (n.*431G>T) | |
| 14 | g.94378574C= | CA2155953430 | SERPINA1 | c.1132G= (p.Glu378=) c.*431G= (n.*431G=) | |
| 14 | g.94378574C>G | CA390847730 | SERPINA1 | c.1132G>C (p.Glu378Gln) c.*431G>C (n.*431G>C) | |
| 14 | g.94378574C>T | CA390847731 | SERPINA1 | c.1132G>A (p.Glu378Lys) c.*431G>A (n.*431G>A) | ClinVar |