| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378610C>A | CA390847804 | SERPINA1 | c.1096G>T (p.Glu366Ter) c.*395G>T (n.*395G>T) | gnomAD v4 |
| 14 | g.94378610C= | CA2155953456 | SERPINA1 | c.1096G= (p.Glu366=) c.*395G= (n.*395G=) | |
| 14 | g.94378610C>G | CA390847805 | SERPINA1 | c.1096G>C (p.Glu366Gln) c.*395G>C (n.*395G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378610C>T | CA127676 | SERPINA1 | c.1096G>A (p.Glu366Lys) c.*395G>A (n.*395G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.[94378610C>T;94383203A>G] | CA913203354 | SERPINA1 | c.[35T>C;1096G>A] (p.[Leu12Pro;Glu366Lys]) c.[35T>C;*395G>A] ([p.Leu12Pro;n.*395G>A]) | ClinVar |
| 14 | g.94378611G>A | CA7327281 | SERPINA1 | c.1095C>T (p.Asp365=) c.*394C>T (n.*394C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378611G>C | CA7327280 | SERPINA1 | c.1095C>G (p.Asp365Glu) c.*394C>G (n.*394C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378611G= | CA2155953457 | SERPINA1 | c.1095C= (p.Asp365=) c.*394C= (n.*394C=) | |
| 14 | g.94378611G>T | CA390847806 | SERPINA1 | c.1095C>A (p.Asp365Glu) c.*394C>A (n.*394C>A) | |
| 14 | g.94378612T>A | CA350011 | SERPINA1 | c.1094A>T (p.Asp365Val) c.*393A>T (n.*393A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378612T>C | CA390847807 | SERPINA1 | c.1094A>G (p.Asp365Gly) c.*393A>G (n.*393A>G) | dbSNP |
| 14 | g.94378612T>G | CA390847808 | SERPINA1 | c.1094A>C (p.Asp365Ala) c.*393A>C (n.*393A>C) | |
| 14 | g.94378612T= | CA2155953458 | SERPINA1 | c.1094A= (p.Asp365=) c.*393A= (n.*393A=) | |
| 14 | g.94378613C>A | CA348804 | SERPINA1 | c.1093G>T (p.Asp365Tyr) c.*392G>T (n.*392G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378613C= | CA2155953459 | SERPINA1 | c.1093G= (p.Asp365=) c.*392G= (n.*392G=) | |
| 14 | g.94378613C>G | CA7327282 | SERPINA1 | c.1093G>C (p.Asp365His) c.*392G>C (n.*392G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378613C>T | CA127626 | SERPINA1 | c.1093G>A (p.Asp365Asn) c.*392G>A (n.*392G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378614G>A | CA7327284 | SERPINA1 | c.1092C>T (p.Ile364=) c.*391C>T (n.*391C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378614G>C | CA7327283 | SERPINA1 | c.1092C>G (p.Ile364Met) c.*391C>G (n.*391C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378614G= | CA2155953460 | SERPINA1 | c.1092C= (p.Ile364=) c.*391C= (n.*391C=) | |
| 14 | g.94378614G>T | CA265860679 | SERPINA1 | c.1092C>A (p.Ile364=) c.*391C>A (n.*391C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378615A>C | CA390847809 | SERPINA1 | c.1091T>G (p.Ile364Ser) c.*390T>G (n.*390T>G) | |
| 14 | g.94378615A>G | CA390847810 | SERPINA1 | c.1091T>C (p.Ile364Thr) c.*390T>C (n.*390T>C) | |
| 14 | g.94378615A>T | CA390847811 | SERPINA1 | c.1091T>A (p.Ile364Asn) c.*390T>A (n.*390T>A) | |
| 14 | g.94378616T>A | CA390847812 | SERPINA1 | c.1090A>T (p.Ile364Phe) c.*389A>T (n.*389A>T) | gnomAD v4 |
| 14 | g.94378616T>C | CA7327285 | SERPINA1 | c.1090A>G (p.Ile364Val) c.*389A>G (n.*389A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378616T>G | CA390847813 | SERPINA1 | c.1090A>C (p.Ile364Leu) c.*389A>C (n.*389A>C) | |
| 14 | g.94378616T= | CA2155953461 | SERPINA1 | c.1090A= (p.Ile364=) c.*389A= (n.*389A=) | |
| 14 | g.94378617G>A | CA487621201 | SERPINA1 | c.1089C>T (p.Thr363=) c.*388C>T (n.*388C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378617G>C | CA265860682 | SERPINA1 | c.1089C>G (p.Thr363=) c.*388C>G (n.*388C>G) | dbSNP |
| 14 | g.94378617G= | CA2155953462 | SERPINA1 | c.1089C= (p.Thr363=) c.*388C= (n.*388C=) | |
| 14 | g.94378617G>T | CA487621202 | SERPINA1 | c.1089C>A (p.Thr363=) c.*388C>A (n.*388C>A) | |
| 14 | g.94378618G>A | CA390847814 | SERPINA1 | c.1088C>T (p.Thr363Ile) c.*387C>T (n.*387C>T) | dbSNP |
| 14 | g.94378618G>C | CA390847815 | SERPINA1 | c.1088C>G (p.Thr363Ser) c.*387C>G (n.*387C>G) | |
| 14 | g.94378618G= | CA2155953463 | SERPINA1 | c.1088C= (p.Thr363=) c.*387C= (n.*387C=) | |
| 14 | g.94378618G>T | CA390847816 | SERPINA1 | c.1088C>A (p.Thr363Asn) c.*387C>A (n.*387C>A) | gnomAD v4 |
| 14 | g.94378619T>A | CA390847817 | SERPINA1 | c.1087A>T (p.Thr363Ser) c.*386A>T (n.*386A>T) | |
| 14 | g.94378619T>C | CA390847818 | SERPINA1 | c.1087A>G (p.Thr363Ala) c.*386A>G (n.*386A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378619T>G | CA390847819 | SERPINA1 | c.1087A>C (p.Thr363Pro) c.*386A>C (n.*386A>C) | |
| 14 | g.94378619T= | CA2155953464 | SERPINA1 | c.1087A= (p.Thr363=) c.*386A= (n.*386A=) | |
| 14 | g.94378620C>A | CA265860684 | SERPINA1 | c.1086G>T (p.Leu362=) c.*385G>T (n.*385G>T) | dbSNP |
| 14 | g.94378620C= | CA2155953465 | SERPINA1 | c.1086G= (p.Leu362=) c.*385G= (n.*385G=) | |
| 14 | g.94378620C>G | CA487621204 | SERPINA1 | c.1086G>C (p.Leu362=) c.*385G>C (n.*385G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378620C>T | CA7327286 | SERPINA1 | c.1086G>A (p.Leu362=) c.*385G>A (n.*385G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378621A= | CA2155953466 | SERPINA1 | c.1085T= (p.Leu362=) c.*384T= (n.*384T=) | |
| 14 | g.94378621A>C | CA390847820 | SERPINA1 | c.1085T>G (p.Leu362Arg) c.*384T>G (n.*384T>G) | |
| 14 | g.94378621A>G | CA390847822 | SERPINA1 | c.1085T>C (p.Leu362Pro) c.*384T>C (n.*384T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378621A>T | CA390847821 | SERPINA1 | c.1085T>A (p.Leu362Gln) c.*384T>A (n.*384T>A) | |
| 14 | g.94378622G>A | CA487621207 | SERPINA1 | c.1084C>T (p.Leu362=) c.*383C>T (n.*383C>T) | |
| 14 | g.94378622G>C | CA390847823 | SERPINA1 | c.1084C>G (p.Leu362Val) c.*383C>G (n.*383C>G) |