| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94380947_94380949delinsCAT | CA2155953873 | SERPINA1 | c.839_841delinsATG (p.Asp280=) | |
| 14 | g.94380948_94380949delinsG | CA919481991 | SERPINA1 | c.839_840delinsC (p.Asp280AlafsTer?) | dbSNP |
| 14 | g.94380948_94380949delinsAT | CA2155953876 | SERPINA1 | c.839_840delinsAT (p.Asp280=) | |
| 14 | g.94380949del | CA919481992 | SERPINA1 | c.839del (p.Asp280ValfsTer?) | dbSNP |
| 14 | g.94380949T>A | CA127689 | SERPINA1 | c.839A>T (p.Asp280Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380949T>C | CA390848465 | SERPINA1 | c.839A>G (p.Asp280Gly) | gnomAD v4 |
| 14 | g.94380949T>G | CA390848466 | SERPINA1 | c.839A>C (p.Asp280Ala) | |
| 14 | g.94380949T= | CA2155953877 | SERPINA1 | c.839A= (p.Asp280=) | |
| 14 | g.94380950C>A | CA390848469 | SERPINA1 | c.838G>T (p.Asp280Tyr) | |
| 14 | g.94380950C>G | CA390848467 | SERPINA1 | c.838G>C (p.Asp280His) | |
| 14 | g.94380950C>T | CA390848468 | SERPINA1 | c.838G>A (p.Asp280Asn) | |
| 14 | g.94380951A>C | CA487840982 | SERPINA1 | c.837T>G (p.Pro279=) | |
| 14 | g.94380951A>G | CA487840983 | SERPINA1 | c.837T>C (p.Pro279=) | |
| 14 | g.94380951A>T | CA487840984 | SERPINA1 | c.837T>A (p.Pro279=) | |
| 14 | g.94380952G>A | CA390848470 | SERPINA1 | c.836C>T (p.Pro279Leu) | |
| 14 | g.94380952G>C | CA390848472 | SERPINA1 | c.836C>G (p.Pro279Arg) | |
| 14 | g.94380952G>T | CA390848473 | SERPINA1 | c.836C>A (p.Pro279His) | |
| 14 | g.94380953G>A | CA390848475 | SERPINA1 | c.835C>T (p.Pro279Ser) | gnomAD v4 |
| 14 | g.94380953G>C | CA390848476 | SERPINA1 | c.835C>G (p.Pro279Ala) | |
| 14 | g.94380953G= | CA2155953878 | SERPINA1 | c.835C= (p.Pro279=) | |
| 14 | g.94380953G>T | CA7327396 | SERPINA1 | c.835C>A (p.Pro279Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380954C>A | CA487840985 | SERPINA1 | c.834G>T (p.Leu278=) | |
| 14 | g.94380954C>G | CA487840987 | SERPINA1 | c.834G>C (p.Leu278=) | |
| 14 | g.94380954C>T | CA487840986 | SERPINA1 | c.834G>A (p.Leu278=) | gnomAD v4 |
| 14 | g.94380955A= | CA2155953879 | SERPINA1 | c.833T= (p.Leu278=) | |
| 14 | g.94380955A>C | CA390848479 | SERPINA1 | c.833T>G (p.Leu278Arg) | |
| 14 | g.94380955A>G | CA390848480 | SERPINA1 | c.833T>C (p.Leu278Pro) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94380955A>T | CA390848481 | SERPINA1 | c.833T>A (p.Leu278Gln) | |
| 14 | g.94380956G>A | CA487840988 | SERPINA1 | c.832C>T (p.Leu278=) | |
| 14 | g.94380956G>C | CA390848483 | SERPINA1 | c.832C>G (p.Leu278Val) | |
| 14 | g.94380956G>T | CA390848485 | SERPINA1 | c.832C>A (p.Leu278Met) | |
| 14 | g.94380957G>A | CA487840989 | SERPINA1 | c.831C>T (p.Phe277=) | gnomAD v4 COSMIC |
| 14 | g.94380957G>C | CA390848487 | SERPINA1 | c.831C>G (p.Phe277Leu) | |
| 14 | g.94380957G>T | CA390848488 | SERPINA1 | c.831C>A (p.Phe277Leu) | |
| 14 | g.94380962_94380964del | CA2626309433 | SERPINA1 | c.829_831del (p.Phe277del) | gnomAD v4 |
| 14 | g.94380958A>C | CA390848489 | SERPINA1 | c.830T>G (p.Phe277Cys) | |
| 14 | g.94380958A>G | CA390848492 | SERPINA1 | c.830T>C (p.Phe277Ser) | |
| 14 | g.94380958A>T | CA390848490 | SERPINA1 | c.830T>A (p.Phe277Tyr) | |
| 14 | g.94380959A>C | CA390848494 | SERPINA1 | c.829T>G (p.Phe277Val) | |
| 14 | g.94380959A>G | CA390848496 | SERPINA1 | c.829T>C (p.Phe277Leu) | |
| 14 | g.94380959A>T | CA390848497 | SERPINA1 | c.829T>A (p.Phe277Ile) | |
| 14 | g.94380960G>A | CA487840990 | SERPINA1 | c.828C>T (p.Phe276=) | ClinVar dbSNP COSMIC |
| 14 | g.94380960G>C | CA390848499 | SERPINA1 | c.828C>G (p.Phe276Leu) | |
| 14 | g.94380960G= | CA2155953880 | SERPINA1 | c.828C= (p.Phe276=) | |
| 14 | g.94380960G>T | CA390848501 | SERPINA1 | c.828C>A (p.Phe276Leu) | dbSNP |
| 14 | g.94380961A>C | CA390848502 | SERPINA1 | c.827T>G (p.Phe276Cys) | |
| 14 | g.94380961A>G | CA390848503 | SERPINA1 | c.827T>C (p.Phe276Ser) | |
| 14 | g.94380961A>T | CA390848504 | SERPINA1 | c.827T>A (p.Phe276Tyr) | |
| 14 | g.94380962A>C | CA390848506 | SERPINA1 | c.826T>G (p.Phe276Val) | |
| 14 | g.94380962A>G | CA390848508 | SERPINA1 | c.826T>C (p.Phe276Leu) |