| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94379514del | CA16041708 | SERPINA1 | c.1018del (p.Ala340LeufsTer12) c.*317del (n.*317del) | ClinVar dbSNP |
| 14 | g.94379514C>A | CA7327332 | SERPINA1 | c.1015G>T (p.Gly339Trp) c.*314G>T (n.*314G>T) | dbSNP ExAC gnomAD v2 COSMIC |
| 14 | g.94379514C= | CA2155951314 | SERPINA1 | c.1015G= (p.Gly339=) c.*314G= (n.*314G=) | |
| 14 | g.94379514C>G | CA390848086 | SERPINA1 | c.1015G>C (p.Gly339Arg) c.*314G>C (n.*314G>C) | gnomAD v4 |
| 14 | g.94379514C>T | CA390848087 | SERPINA1 | c.1015G>A (p.Gly339Arg) c.*314G>A (n.*314G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94379515A= | CA2155951322 | SERPINA1 | c.1014T= (p.Asn338=) c.*313T= (n.*313T=) | |
| 14 | g.94379515A>C | CA390848089 | SERPINA1 | c.1014T>G (p.Asn338Lys) c.*313T>G (n.*313T>G) | |
| 14 | g.94379515A>G | CA7327333 | SERPINA1 | c.1014T>C (p.Asn338=) c.*313T>C (n.*313T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379515A>T | CA390848088 | SERPINA1 | c.1014T>A (p.Asn338Lys) c.*313T>A (n.*313T>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94379516T>A | CA390848090 | SERPINA1 | c.1013A>T (p.Asn338Ile) c.*312A>T (n.*312A>T) | |
| 14 | g.94379516T>C | CA390848092 | SERPINA1 | c.1013A>G (p.Asn338Ser) c.*312A>G (n.*312A>G) | |
| 14 | g.94379516T>G | CA390848091 | SERPINA1 | c.1013A>C (p.Asn338Thr) c.*312A>C (n.*312A>C) | |
| 14 | g.94379517T>A | CA390848093 | SERPINA1 | c.1012A>T (p.Asn338Tyr) c.*311A>T (n.*311A>T) | |
| 14 | g.94379517T>C | CA390848095 | SERPINA1 | c.1012A>G (p.Asn338Asp) c.*311A>G (n.*311A>G) | gnomAD v3 gnomAD v4 |
| 14 | g.94379517T>G | CA390848094 | SERPINA1 | c.1012A>C (p.Asn338His) c.*311A>C (n.*311A>C) | |
| 14 | g.94379518G>A | CA487621436 | SERPINA1 | c.1011C>T (p.Ser337=) c.*310C>T (n.*310C>T) | |
| 14 | g.94379518G>C | CA390848096 | SERPINA1 | c.1011C>G (p.Ser337Arg) c.*310C>G (n.*310C>G) | |
| 14 | g.94379518G>T | CA390848097 | SERPINA1 | c.1011C>A (p.Ser337Arg) c.*310C>A (n.*310C>A) | |
| 14 | g.94379519C>A | CA390848098 | SERPINA1 | c.1010G>T (p.Ser337Ile) c.*309G>T (n.*309G>T) | |
| 14 | g.94379519C>G | CA390848099 | SERPINA1 | c.1010G>C (p.Ser337Thr) c.*309G>C (n.*309G>C) | |
| 14 | g.94379519C>T | CA390848100 | SERPINA1 | c.1010G>A (p.Ser337Asn) c.*309G>A (n.*309G>A) | |
| 14 | g.94379520T>A | CA390848101 | SERPINA1 | c.1009A>T (p.Ser337Cys) c.*308A>T (n.*308A>T) | |
| 14 | g.94379520T>C | CA390848102 | SERPINA1 | c.1009A>G (p.Ser337Gly) c.*308A>G (n.*308A>G) | |
| 14 | g.94379520T>G | CA390848103 | SERPINA1 | c.1009A>C (p.Ser337Arg) c.*308A>C (n.*308A>C) | gnomAD v4 COSMIC |
| 14 | g.94379523_94379534del | CA2626280257 | SERPINA1 | c.998_1009del (p.Thr333_Phe336del) c.*297_*308del (n.*297_*308del) | gnomAD v4 |
| 14 | g.94379521G>A | CA487621438 | SERPINA1 | c.1008C>T (p.Phe336=) c.*307C>T (n.*307C>T) | |
| 14 | g.94379521G>C | CA390848105 | SERPINA1 | c.1008C>G (p.Phe336Leu) c.*307C>G (n.*307C>G) | |
| 14 | g.94379521G>T | CA390848104 | SERPINA1 | c.1008C>A (p.Phe336Leu) c.*307C>A (n.*307C>A) | |
| 14 | g.94379522A>C | CA390848106 | SERPINA1 | c.1007T>G (p.Phe336Cys) c.*306T>G (n.*306T>G) | |
| 14 | g.94379522A>G | CA390848107 | SERPINA1 | c.1007T>C (p.Phe336Ser) c.*306T>C (n.*306T>C) | |
| 14 | g.94379522A>T | CA390848108 | SERPINA1 | c.1007T>A (p.Phe336Tyr) c.*306T>A (n.*306T>A) | |
| 14 | g.94379523A>C | CA390848109 | SERPINA1 | c.1006T>G (p.Phe336Val) c.*305T>G (n.*305T>G) | |
| 14 | g.94379523A>G | CA390848110 | SERPINA1 | c.1006T>C (p.Phe336Leu) c.*305T>C (n.*305T>C) | |
| 14 | g.94379523A>T | CA390848111 | SERPINA1 | c.1006T>A (p.Phe336Ile) c.*305T>A (n.*305T>A) | |
| 14 | g.94379524G>A | CA487621442 | SERPINA1 | c.1005C>T (p.Val335=) c.*304C>T (n.*304C>T) | dbSNP |
| 14 | g.94379524G>C | CA487621444 | SERPINA1 | c.1005C>G (p.Val335=) c.*304C>G (n.*304C>G) | |
| 14 | g.94379524G= | CA2155951325 | SERPINA1 | c.1005C= (p.Val335=) c.*304C= (n.*304C=) | |
| 14 | g.94379524G>T | CA487621445 | SERPINA1 | c.1005C>A (p.Val335=) c.*304C>A (n.*304C>A) | |
| 14 | g.94379525A>C | CA390848112 | SERPINA1 | c.1004T>G (p.Val335Gly) c.*303T>G (n.*303T>G) | |
| 14 | g.94379525A>G | CA390848114 | SERPINA1 | c.1004T>C (p.Val335Ala) c.*303T>C (n.*303T>C) | |
| 14 | g.94379525A>T | CA390848113 | SERPINA1 | c.1004T>A (p.Val335Asp) c.*303T>A (n.*303T>A) | |
| 14 | g.94379526C>A | CA265860977 | SERPINA1 | c.1003G>T (p.Val335Phe) c.*302G>T (n.*302G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94379526C= | CA2155951327 | SERPINA1 | c.1003G= (p.Val335=) c.*302G= (n.*302G=) | |
| 14 | g.94379526C>G | CA390848115 | SERPINA1 | c.1003G>C (p.Val335Leu) c.*302G>C (n.*302G>C) | |
| 14 | g.94379526C>T | CA265860979 | SERPINA1 | c.1003G>A (p.Val335Ile) c.*302G>A (n.*302G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379527C>A | CA390848116 | SERPINA1 | c.1002G>T (p.Lys334Asn) c.*301G>T (n.*301G>T) | |
| 14 | g.94379527C>G | CA390848117 | SERPINA1 | c.1002G>C (p.Lys334Asn) c.*301G>C (n.*301G>C) | |
| 14 | g.94379527C>T | CA487621449 | SERPINA1 | c.1002G>A (p.Lys334=) c.*301G>A (n.*301G>A) | |
| 14 | g.94379528T>A | CA390848118 | SERPINA1 | c.1001A>T (p.Lys334Met) c.*300A>T (n.*300A>T) | |
| 14 | g.94379528T>C | CA390848119 | SERPINA1 | c.1001A>G (p.Lys334Arg) c.*300A>G (n.*300A>G) |