| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378575_94378576delinsTA | CA2155953431 | SERPINA1 | c.1130_1131delinsTA (p.Leu377=) c.*429_*430delinsTA (n.*429_*430delinsTA) | |
| 14 | g.94378575_94378580delinsTAAAAA | CA2155953432 | SERPINA1 | c.1126_1131delinsTTTTTA (p.Phe376=) c.*425_*430delinsTTTTTA (n.*425_*430delinsTTTTTA) | |
| 14 | g.94378576A>C | CA390847733 | SERPINA1 | c.1130T>G (p.Leu377Ter) c.*429T>G (n.*429T>G) | |
| 14 | g.94378576A>G | CA390847734 | SERPINA1 | c.1130T>C (p.Leu377Ser) c.*429T>C (n.*429T>C) | |
| 14 | g.94378576A>T | CA390847735 | SERPINA1 | c.1130T>A (p.Leu377Ter) c.*429T>A (n.*429T>A) | |
| 14 | g.94378576_94378580del | CA616114987 | SERPINA1 | c.1126_1130del (p.Phe376ArgfsTer23) c.*425_*429del (n.*425_*429del) | dbSNP gnomAD v2 |
| 14 | g.94378580dup | CA7327268 | SERPINA1 | c.1130dup (p.Leu377PhefsTer24) c.*429dup (n.*429dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378580del | CA7327267 | SERPINA1 | c.1130del (p.Leu377Ter) c.*429del (n.*429del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.94378577A>C | CA390847737 | SERPINA1 | c.1129T>G (p.Leu377Val) c.*428T>G (n.*428T>G) | |
| 14 | g.94378577A>G | CA487621151 | SERPINA1 | c.1129T>C (p.Leu377=) c.*428T>C (n.*428T>C) | |
| 14 | g.94378577A>T | CA390847736 | SERPINA1 | c.1129T>A (p.Leu377Ile) c.*428T>A (n.*428T>A) | |
| 14 | g.94378578A>C | CA390847738 | SERPINA1 | c.1128T>G (p.Phe376Leu) c.*427T>G (n.*427T>G) | |
| 14 | g.94378578A>G | CA487621152 | SERPINA1 | c.1128T>C (p.Phe376=) c.*427T>C (n.*427T>C) | |
| 14 | g.94378578A>T | CA390847739 | SERPINA1 | c.1128T>A (p.Phe376Leu) c.*427T>A (n.*427T>A) | |
| 14 | g.94378579A>C | CA390847740 | SERPINA1 | c.1127T>G (p.Phe376Cys) c.*426T>G (n.*426T>G) | |
| 14 | g.94378579A>G | CA390847741 | SERPINA1 | c.1127T>C (p.Phe376Ser) c.*426T>C (n.*426T>C) | |
| 14 | g.94378579A>T | CA390847742 | SERPINA1 | c.1127T>A (p.Phe376Tyr) c.*426T>A (n.*426T>A) | |
| 14 | g.94378580A= | CA2155953434 | SERPINA1 | c.1126T= (p.Phe376=) c.*425T= (n.*425T=) | |
| 14 | g.94378580A>C | CA390847744 | SERPINA1 | c.1126T>G (p.Phe376Val) c.*425T>G (n.*425T>G) | |
| 14 | g.94378580A>G | CA390847743 | SERPINA1 | c.1126T>C (p.Phe376Leu) c.*425T>C (n.*425T>C) | gnomAD v4 |
| 14 | g.94378580A>T | CA265860653 | SERPINA1 | c.1126T>A (p.Phe376Ile) c.*425T>A (n.*425T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378581C>A | CA390847745 | SERPINA1 | c.1125G>T (p.Met375Ile) c.*424G>T (n.*424G>T) | |
| 14 | g.94378581C= | CA2155953435 | SERPINA1 | c.1125G= (p.Met375=) c.*424G= (n.*424G=) | |
| 14 | g.94378581C>G | CA390847746 | SERPINA1 | c.1125G>C (p.Met375Ile) c.*424G>C (n.*424G>C) | |
| 14 | g.94378581C>T | CA390847747 | SERPINA1 | c.1125G>A (p.Met375Ile) c.*424G>A (n.*424G>A) | gnomAD v4 |
| 14 | g.94378581_94378582insCTCCAG | CA616114988 | SERPINA1 | c.1124_1125insCTGGAG (p.Met375delinsIleTrpArg) c.*423_*424insCTGGAG (n.*423_*424insCTGGAG) | dbSNP gnomAD v2 |
| 14 | g.94378582A= | CA2155953436 | SERPINA1 | c.1124T= (p.Met375=) c.*423T= (n.*423T=) | |
| 14 | g.94378582A>C | CA390847748 | SERPINA1 | c.1124T>G (p.Met375Arg) c.*423T>G (n.*423T>G) | |
| 14 | g.94378582A>G | CA390847749 | SERPINA1 | c.1124T>C (p.Met375Thr) c.*423T>C (n.*423T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378582A>T | CA390847750 | SERPINA1 | c.1124T>A (p.Met375Lys) c.*423T>A (n.*423T>A) | |
| 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 |