| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94379508C>A | CA390848076 | SERPINA1 | c.1021G>T (p.Asp341Tyr) c.*320G>T (n.*320G>T) | |
| 14 | g.94379508C= | CA2155951298 | SERPINA1 | c.1021G= (p.Asp341=) c.*320G= (n.*320G=) | |
| 14 | g.94379508C>G | CA390848077 | SERPINA1 | c.1021G>C (p.Asp341His) c.*320G>C (n.*320G>C) | |
| 14 | g.94379508C>T | CA265860972 | SERPINA1 | c.1021G>A (p.Asp341Asn) c.*320G>A (n.*320G>A) | dbSNP |
| 14 | g.94379509A= | CA2155951300 | SERPINA1 | c.1020T= (p.Ala340=) c.*319T= (n.*319T=) | |
| 14 | g.94379509A>C | CA487621429 | SERPINA1 | c.1020T>G (p.Ala340=) c.*319T>G (n.*319T>G) | |
| 14 | g.94379509A>G | CA265860973 | SERPINA1 | c.1020T>C (p.Ala340=) c.*319T>C (n.*319T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379509A>T | CA487621430 | SERPINA1 | c.1020T>A (p.Ala340=) c.*319T>A (n.*319T>A) | |
| 14 | g.94379510G>A | CA390848078 | SERPINA1 | c.1019C>T (p.Ala340Val) c.*318C>T (n.*318C>T) | dbSNP gnomAD v2 |
| 14 | g.94379510G>C | CA390848079 | SERPINA1 | c.1019C>G (p.Ala340Gly) c.*318C>G (n.*318C>G) | |
| 14 | g.94379510G= | CA2155951304 | SERPINA1 | c.1019C= (p.Ala340=) c.*318C= (n.*318C=) | |
| 14 | g.94379510G>T | CA390848080 | SERPINA1 | c.1019C>A (p.Ala340Asp) c.*318C>A (n.*318C>A) | |
| 14 | g.94379510_94379511delinsGC | CA2155951303 | SERPINA1 | c.1018_1019delinsGC (p.Ala340=) c.*317_*318delinsGC (n.*317_*318delinsGC) | |
| 14 | g.94379511C>A | CA390848081 | SERPINA1 | c.1018G>T (p.Ala340Ser) c.*317G>T (n.*317G>T) | |
| 14 | g.94379511C>G | CA390848082 | SERPINA1 | c.1018G>C (p.Ala340Pro) c.*317G>C (n.*317G>C) | |
| 14 | g.94379511C>T | CA390848083 | SERPINA1 | c.1018G>A (p.Ala340Thr) c.*317G>A (n.*317G>A) | |
| 14 | g.94379514del | CA16041708 | SERPINA1 | c.1018del (p.Ala340LeufsTer12) c.*317del (n.*317del) | ClinVar dbSNP |
| 14 | g.94379512C>A | CA487621433 | SERPINA1 | c.1017G>T (p.Gly339=) c.*316G>T (n.*316G>T) | gnomAD v4 |
| 14 | g.94379512C>G | CA487621434 | SERPINA1 | c.1017G>C (p.Gly339=) c.*316G>C (n.*316G>C) | |
| 14 | g.94379512C>T | CA487621435 | SERPINA1 | c.1017G>A (p.Gly339=) c.*316G>A (n.*316G>A) | |
| 14 | g.94379513C>A | CA390848084 | SERPINA1 | c.1016G>T (p.Gly339Val) c.*315G>T (n.*315G>T) | gnomAD v4 |
| 14 | g.94379513C= | CA2155951311 | SERPINA1 | c.1016G= (p.Gly339=) c.*315G= (n.*315G=) | |
| 14 | g.94379513C>G | CA390848085 | SERPINA1 | c.1016G>C (p.Gly339Ala) c.*315G>C (n.*315G>C) | |
| 14 | g.94379513C>T | CA265860975 | SERPINA1 | c.1016G>A (p.Gly339Glu) c.*315G>A (n.*315G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 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) |