| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378583T>A | CA390847751 | SERPINA1 | c.1123A>T (p.Met375Leu) c.*422A>T (n.*422A>T) | |
| 14 | g.94378583T>C | CA390847752 | SERPINA1 | c.1123A>G (p.Met375Val) c.*422A>G (n.*422A>G) | gnomAD v4 |
| 14 | g.94378583T>G | CA7327269 | SERPINA1 | c.1123A>C (p.Met375Leu) c.*422A>C (n.*422A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378583T= | CA2155953437 | SERPINA1 | c.1123A= (p.Met375=) c.*422A= (n.*422A=) | |
| 14 | g.94378584G>A | CA487621156 | SERPINA1 | c.1122C>T (p.Ala374=) c.*421C>T (n.*421C>T) | ClinVar dbSNP |
| 14 | g.94378584G>C | CA487621160 | SERPINA1 | c.1122C>G (p.Ala374=) c.*421C>G (n.*421C>G) | |
| 14 | g.94378584G>T | CA487621158 | SERPINA1 | c.1122C>A (p.Ala374=) c.*421C>A (n.*421C>A) | |
| 14 | g.94378585_94378586insGGGG | CA616114991 | SERPINA1 | c.1122_1123insCCCC (p.Met375ProfsTer27) c.*421_*422insCCCC (n.*421_*422insCCCC) | dbSNP gnomAD v2 |
| 14 | g.94378585G>A | CA390847753 | SERPINA1 | c.1121C>T (p.Ala374Val) c.*420C>T (n.*420C>T) | |
| 14 | g.94378585G>C | CA390847754 | SERPINA1 | c.1121C>G (p.Ala374Gly) c.*420C>G (n.*420C>G) | |
| 14 | g.94378585G= | CA2155953438 | SERPINA1 | c.1121C= (p.Ala374=) c.*420C= (n.*420C=) | |
| 14 | g.94378585G>T | CA390847755 | SERPINA1 | c.1121C>A (p.Ala374Asp) c.*420C>A (n.*420C>A) | ClinVar dbSNP |
| 14 | g.94378586C>A | CA390847756 | SERPINA1 | c.1120G>T (p.Ala374Ser) c.*419G>T (n.*419G>T) | |
| 14 | g.94378586C= | CA2155953439 | SERPINA1 | c.1120G= (p.Ala374=) c.*419G= (n.*419G=) | |
| 14 | g.94378586C>G | CA390847757 | SERPINA1 | c.1120G>C (p.Ala374Pro) c.*419G>C (n.*419G>C) | |
| 14 | g.94378586C>T | CA7327270 | SERPINA1 | c.1120G>A (p.Ala374Thr) c.*419G>A (n.*419G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378587C>A | CA487621162 | SERPINA1 | c.1119G>T (p.Gly373=) c.*418G>T (n.*418G>T) | |
| 14 | g.94378587C= | CA2155953440 | SERPINA1 | c.1119G= (p.Gly373=) c.*418G= (n.*418G=) | |
| 14 | g.94378587C>G | CA487621164 | SERPINA1 | c.1119G>C (p.Gly373=) c.*418G>C (n.*418G>C) | gnomAD v4 |
| 14 | g.94378587C>T | CA7327271 | SERPINA1 | c.1119G>A (p.Gly373=) c.*418G>A (n.*418G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378588C>A | CA390847760 | SERPINA1 | c.1118G>T (p.Gly373Val) c.*417G>T (n.*417G>T) | gnomAD v4 |
| 14 | g.94378588C>G | CA390847758 | SERPINA1 | c.1118G>C (p.Gly373Ala) c.*417G>C (n.*417G>C) | |
| 14 | g.94378588C>T | CA390847759 | SERPINA1 | c.1118G>A (p.Gly373Glu) c.*417G>A (n.*417G>A) | gnomAD v4 |
| 14 | g.94378589C>A | CA265860659 | SERPINA1 | c.1117G>T (p.Gly373Trp) c.*416G>T (n.*416G>T) | dbSNP |
| 14 | g.94378589C= | CA2155953441 | SERPINA1 | c.1117G= (p.Gly373=) c.*416G= (n.*416G=) | |
| 14 | g.94378589C>G | CA390847761 | SERPINA1 | c.1117G>C (p.Gly373Arg) c.*416G>C (n.*416G>C) | |
| 14 | g.94378589C>T | CA7327272 | SERPINA1 | c.1117G>A (p.Gly373Arg) c.*416G>A (n.*416G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378590A= | CA2155953443 | SERPINA1 | c.1116T= (p.Ala372=) c.*415T= (n.*415T=) | |
| 14 | g.94378590A>C | CA487621168 | SERPINA1 | c.1116T>G (p.Ala372=) c.*415T>G (n.*415T>G) | |
| 14 | g.94378590A>G | CA487621170 | SERPINA1 | c.1116T>C (p.Ala372=) c.*415T>C (n.*415T>C) | ClinVar dbSNP gnomAD v2 |
| 14 | g.94378590A>T | CA7327274 | SERPINA1 | c.1116T>A (p.Ala372=) c.*415T>A (n.*415T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378590_94378595delinsAGCAGC | CA2155953442 | SERPINA1 | c.1111_1116delinsGCTGCT (p.Ala371=) c.*410_*415delinsGCTGCT (n.*410_*415delinsGCTGCT) | |
| 14 | g.94378590_94378598delinsAGCAGCTTC | CA2155953444 | SERPINA1 | c.1108_1116delinsGAAGCTGCT (p.Glu370=) c.*407_*415delinsGAAGCTGCT (n.*407_*415delinsGAAGCTGCT) | |
| 14 | g.94378591del | CA2575614226 | SERPINA1 | c.1115del (p.Ala372ValfsTer6) c.*414del (n.*414del) | |
| 14 | g.94378591G>A | CA390847762 | SERPINA1 | c.1115C>T (p.Ala372Val) c.*414C>T (n.*414C>T) | gnomAD v4 |
| 14 | g.94378591G>C | CA390847764 | SERPINA1 | c.1115C>G (p.Ala372Gly) c.*414C>G (n.*414C>G) | |
| 14 | g.94378591G>T | CA390847763 | SERPINA1 | c.1115C>A (p.Ala372Asp) c.*414C>A (n.*414C>A) | dbSNP |
| 14 | g.94378591_94378595del | CA7327273 | SERPINA1 | c.1111_1115del (p.Ala371TrpfsTer28) c.*410_*414del (n.*410_*414del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378591_94378598delinsTGTTTTT | CA348973 | SERPINA1 | c.1108_1115delinsAAAAACA (p.Glu370LysfsTer8) c.*407_*414delinsAAAAACA (n.*407_*414delinsAAAAACA) | ClinVar dbSNP |
| 14 | g.94378592C>A | CA390847765 | SERPINA1 | c.1114G>T (p.Ala372Ser) c.*413G>T (n.*413G>T) | |
| 14 | g.94378592C= | CA2155953445 | SERPINA1 | c.1114G= (p.Ala372=) c.*413G= (n.*413G=) | |
| 14 | g.94378592C>G | CA390847766 | SERPINA1 | c.1114G>C (p.Ala372Pro) c.*413G>C (n.*413G>C) | |
| 14 | g.94378592C>T | CA390847767 | SERPINA1 | c.1114G>A (p.Ala372Thr) c.*413G>A (n.*413G>A) | dbSNP gnomAD v2 |
| 14 | g.94378592_94378593del | CA2499222787 | SERPINA1 | c.1113_1114del (p.Ala372TrpfsTer28) c.*412_*413del (n.*412_*413del) | ClinVar dbSNP |
| 14 | g.94378593A= | CA2155953446 | SERPINA1 | c.1113T= (p.Ala371=) c.*412T= (n.*412T=) | |
| 14 | g.94378593A>C | CA487621176 | SERPINA1 | c.1113T>G (p.Ala371=) c.*412T>G (n.*412T>G) | |
| 14 | g.94378593A>G | CA487621175 | SERPINA1 | c.1113T>C (p.Ala371=) c.*412T>C (n.*412T>C) | dbSNP gnomAD v2 |
| 14 | g.94378593A>T | CA487621174 | SERPINA1 | c.1113T>A (p.Ala371=) c.*412T>A (n.*412T>A) | |
| 14 | g.94378594del | CA2695219654 | SERPINA1 | c.1112del (p.Ala371ValfsTer7) c.*411del (n.*411del) | |
| 14 | g.94378594G>A | CA390847768 | SERPINA1 | c.1112C>T (p.Ala371Val) c.*411C>T (n.*411C>T) |