UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 14 | g.94379528T>G | CA390848120 | SERPINA1 | c.1001A>C (p.Lys334Thr) c.*300A>C (n.*300A>C) | |
| 14 | g.94379529T>A | CA390848121 | SERPINA1 | c.1000A>T (p.Lys334Ter) c.*299A>T (n.*299A>T) | |
| 14 | g.94379529T>C | CA390848122 | SERPINA1 | c.1000A>G (p.Lys334Glu) c.*299A>G (n.*299A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94379529T>G | CA390848123 | SERPINA1 | c.1000A>C (p.Lys334Gln) c.*299A>C (n.*299A>C) | |
| 14 | g.94379529T= | CA2155951330 | SERPINA1 | c.1000A= (p.Lys334=) c.*299A= (n.*299A=) | |
| 14 | g.94379530A= | CA2155951334 | SERPINA1 | c.999T= (p.Thr333=) c.*298T= (n.*298T=) | |
| 14 | g.94379530A>C | CA487621452 | SERPINA1 | c.999T>G (p.Thr333=) c.*298T>G (n.*298T>G) | |
| 14 | g.94379530A>G | CA265860980 | SERPINA1 | c.999T>C (p.Thr333=) c.*298T>C (n.*298T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379530A>T | CA487621453 | SERPINA1 | c.999T>A (p.Thr333=) c.*298T>A (n.*298T>A) | |
| 14 | g.94379530_94379534del | CA966133173 | SERPINA1 | c.995_999del (p.Ile332LysfsTer8) c.*294_*298del (n.*294_*298del) | gnomAD v3 gnomAD v4 |
| 14 | g.94379531G>A | CA390848126 | SERPINA1 | c.998C>T (p.Thr333Ile) c.*297C>T (n.*297C>T) | |
| 14 | g.94379531G>C | CA390848124 | SERPINA1 | c.998C>G (p.Thr333Ser) c.*297C>G (n.*297C>G) | |
| 14 | g.94379531G>T | CA390848125 | SERPINA1 | c.998C>A (p.Thr333Asn) c.*297C>A (n.*297C>A) | |
| 14 | g.94379532T>A | CA390848127 | SERPINA1 | c.997A>T (p.Thr333Ser) c.*296A>T (n.*296A>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94379532T>C | CA390848128 | SERPINA1 | c.997A>G (p.Thr333Ala) c.*296A>G (n.*296A>G) | gnomAD v4 |
| 14 | g.94379532T>G | CA390848129 | SERPINA1 | c.997A>C (p.Thr333Pro) c.*296A>C (n.*296A>C) | |
| 14 | g.94379532T= | CA2155951339 | SERPINA1 | c.997A= (p.Thr333=) c.*296A= (n.*296A=) | |
| 14 | g.94379533G>A | CA487621455 | SERPINA1 | c.996C>T (p.Ile332=) c.*295C>T (n.*295C>T) | gnomAD v4 COSMIC |
| 14 | g.94379533G>C | CA390848130 | SERPINA1 | c.996C>G (p.Ile332Met) c.*295C>G (n.*295C>G) | |
| 14 | g.94379533G= | CA2155951341 | SERPINA1 | c.996C= (p.Ile332=) c.*295C= (n.*295C=) | |
| 14 | g.94379533G>T | CA487621456 | SERPINA1 | c.996C>A (p.Ile332=) c.*295C>A (n.*295C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94379534A>C | CA390848131 | SERPINA1 | c.995T>G (p.Ile332Ser) c.*294T>G (n.*294T>G) | |
| 14 | g.94379534A>G | CA390848132 | SERPINA1 | c.995T>C (p.Ile332Thr) c.*294T>C (n.*294T>C) | |
| 14 | g.94379534A>T | CA390848133 | SERPINA1 | c.995T>A (p.Ile332Asn) c.*294T>A (n.*294T>A) | |
| 14 | g.94379535T>A | CA390848134 | SERPINA1 | c.994A>T (p.Ile332Phe) c.*293A>T (n.*293A>T) | |
| 14 | g.94379535T>C | CA390848135 | SERPINA1 | c.994A>G (p.Ile332Val) c.*293A>G (n.*293A>G) | |
| 14 | g.94379535T>G | CA390848136 | SERPINA1 | c.994A>C (p.Ile332Leu) c.*293A>C (n.*293A>C) | |
| 14 | g.94379536G>A | CA487621458 | SERPINA1 | c.993C>T (p.Gly331=) c.*292C>T (n.*292C>T) | |
| 14 | g.94379536G>C | CA487621460 | SERPINA1 | c.993C>G (p.Gly331=) c.*292C>G (n.*292C>G) | gnomAD v3 gnomAD v4 |
| 14 | g.94379536G>T | CA487621461 | SERPINA1 | c.993C>A (p.Gly331=) c.*292C>A (n.*292C>A) | gnomAD v4 |
| 14 | g.94379536_94379545delinsGCCCAGTTGA | CA2155951343 | SERPINA1 | c.984_993delinsTCAACTGGGC (p.Gly328=) c.*283_*292delinsTCAACTGGGC (n.*283_*292delinsTCAACTGGGC) | |
| 14 | g.94379537C>A | CA390848138 | SERPINA1 | c.992G>T (p.Gly331Val) c.*291G>T (n.*291G>T) | |
| 14 | g.94379537C>G | CA390848139 | SERPINA1 | c.992G>C (p.Gly331Ala) c.*291G>C (n.*291G>C) | gnomAD v4 |
| 14 | g.94379537C>T | CA390848137 | SERPINA1 | c.992G>A (p.Gly331Asp) c.*291G>A (n.*291G>A) | |
| 14 | g.94379542_94379550del | CA919481961 | SERPINA1 | c.984_992del (p.Gln329_Gly331del) c.*283_*291del (n.*283_*291del) | dbSNP gnomAD v4 |
| 14 | g.94379538C>A | CA390848140 | SERPINA1 | c.991G>T (p.Gly331Cys) c.*290G>T (n.*290G>T) | |
| 14 | g.94379538C= | CA2155951345 | SERPINA1 | c.991G= (p.Gly331=) c.*290G= (n.*290G=) | |
| 14 | g.94379538C>G | CA7327334 | SERPINA1 | c.991G>C (p.Gly331Arg) c.*290G>C (n.*290G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379538C>T | CA7327335 | SERPINA1 | c.991G>A (p.Gly331Ser) c.*290G>A (n.*290G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379539C>A | CA487621463 | SERPINA1 | c.990G>T (p.Leu330=) c.*289G>T (n.*289G>T) | |
| 14 | g.94379539C>G | CA487621465 | SERPINA1 | c.990G>C (p.Leu330=) c.*289G>C (n.*289G>C) | |
| 14 | g.94379539C>T | CA487621464 | SERPINA1 | c.990G>A (p.Leu330=) c.*289G>A (n.*289G>A) | gnomAD v3 gnomAD v4 |
| 14 | g.94379540A>C | CA390848141 | SERPINA1 | c.989T>G (p.Leu330Arg) c.*288T>G (n.*288T>G) | |
| 14 | g.94379540A>G | CA390848142 | SERPINA1 | c.989T>C (p.Leu330Pro) c.*288T>C (n.*288T>C) | |
| 14 | g.94379540A>T | CA390848143 | SERPINA1 | c.989T>A (p.Leu330Gln) c.*288T>A (n.*288T>A) | |
| 14 | g.94379541G>A | CA487621467 | SERPINA1 | c.988C>T (p.Leu330=) c.*287C>T (n.*287C>T) | |
| 14 | g.94379541G>C | CA390848144 | SERPINA1 | c.988C>G (p.Leu330Val) c.*287C>G (n.*287C>G) | |
| 14 | g.94379541G= | CA2155951349 | SERPINA1 | c.988C= (p.Leu330=) c.*287C= (n.*287C=) | |
| 14 | g.94379541G>T | CA390848145 | SERPINA1 | c.988C>A (p.Leu330Met) c.*287C>A (n.*287C>A) | |
| 14 | g.94379541_94379547del | CA966133185 | SERPINA1 | c.982_988del (p.Gly328TrpfsTer22) c.*281_*287del (n.*281_*287del) | gnomAD v3 gnomAD v4 |
| 14 | g.94379541_94379542insA | CA616114919 | SERPINA1 | c.987_988insT (p.Leu330SerfsTer5) c.*286_*287insT (n.*286_*287insT) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379541_94379542insATTCCTAGGGACTCTCTTGAGT | CA966133192 | SERPINA1 | c.987_988insACTCAAGAGAGTCCCTAGGAAT (p.Leu330ThrfsTer6) c.*286_*287insACTCAAGAGAGTCCCTAGGAAT (n.*286_*287insACTCAAGAGAGTCCCTAGGAAT) | gnomAD v3 gnomAD v4 |
| 14 | g.94379542T>A | CA390848146 | SERPINA1 | c.987A>T (p.Gln329His) c.*286A>T (n.*286A>T) | dbSNP |
| 14 | g.94379542T>C | CA487621469 | SERPINA1 | c.987A>G (p.Gln329=) c.*286A>G (n.*286A>G) | ClinVar gnomAD v4 |
| 14 | g.94379542T>G | CA390848147 | SERPINA1 | c.987A>C (p.Gln329His) c.*286A>C (n.*286A>C) | |
| 14 | g.94379542T= | CA2155951351 | SERPINA1 | c.987A= (p.Gln329=) c.*286A= (n.*286A=) | |
| 14 | g.94379543del | CA2626280269 | SERPINA1 | c.987del (p.Gln329HisfsTer23) c.*286del (n.*286del) | gnomAD v4 |
| 14 | g.94379543T>A | CA390848148 | SERPINA1 | c.986A>T (p.Gln329Leu) c.*285A>T (n.*285A>T) | |
| 14 | g.94379543T>C | CA390848149 | SERPINA1 | c.986A>G (p.Gln329Arg) c.*285A>G (n.*285A>G) | gnomAD v4 |
| 14 | g.94379543T>G | CA390848150 | SERPINA1 | c.986A>C (p.Gln329Pro) c.*285A>C (n.*285A>C) | |
| 14 | g.94379543_94379545delinsTGA | CA2155951356 | SERPINA1 | c.984_986delinsTCA (p.Gly328=) c.*283_*285delinsTCA (n.*283_*285delinsTCA) | |
| 14 | g.94379543_94379546delinsTGAC | CA2155951355 | SERPINA1 | c.983_986delinsGTCA (p.Gly328=) c.*282_*285delinsGTCA (n.*282_*285delinsGTCA) | |
| 14 | g.94379543_94379544insCCTAGG | CA2730052690 | SERPINA1 | c.985_986insCCTAGG (p.Gln329ProfsTer2) c.*284_*285insCCTAGG (n.*284_*285insCCTAGG) | dbSNP |
| 14 | g.94379544G>A | CA390848151 | SERPINA1 | c.985C>T (p.Gln329Ter) c.*284C>T (n.*284C>T) | |
| 14 | g.94379544G>C | CA390848153 | SERPINA1 | c.985C>G (p.Gln329Glu) c.*284C>G (n.*284C>G) | |
| 14 | g.94379544G>T | CA390848152 | SERPINA1 | c.985C>A (p.Gln329Lys) c.*284C>A (n.*284C>A) | |
| 14 | g.94379544_94379545del | CA616114920 | SERPINA1 | c.984_985del (p.Gln329ThrfsTer5) c.*283_*284del (n.*283_*284del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379544_94379546del | CA616114921 | SERPINA1 | c.983_985del (p.Gly328_Gln329delinsGlu) c.*282_*284del (n.*282_*284del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379545A>C | CA487621474 | SERPINA1 | c.984T>G (p.Gly328=) c.*283T>G (n.*283T>G) | |
| 14 | g.94379545A>G | CA487621475 | SERPINA1 | c.984T>C (p.Gly328=) c.*283T>C (n.*283T>C) | |
| 14 | g.94379545A>T | CA487621476 | SERPINA1 | c.984T>A (p.Gly328=) c.*283T>A (n.*283T>A) | |
| 14 | g.94379546C>A | CA390848154 | SERPINA1 | c.983G>T (p.Gly328Val) c.*282G>T (n.*282G>T) | |
| 14 | g.94379546C= | CA2155951361 | SERPINA1 | c.983G= (p.Gly328=) c.*282G= (n.*282G=) | |
| 14 | g.94379546C>G | CA265860981 | SERPINA1 | c.983G>C (p.Gly328Ala) c.*282G>C (n.*282G>C) | dbSNP |
| 14 | g.94379546C>T | CA390848155 | SERPINA1 | c.983G>A (p.Gly328Asp) c.*282G>A (n.*282G>A) | |
| 14 | g.94379547C>A | CA390848156 | SERPINA1 | c.982G>T (p.Gly328Cys) c.*281G>T (n.*281G>T) | |
| 14 | g.94379547C>G | CA390848157 | SERPINA1 | c.982G>C (p.Gly328Arg) c.*281G>C (n.*281G>C) | |
| 14 | g.94379547C>T | CA390848158 | SERPINA1 | c.982G>A (p.Gly328Ser) c.*281G>A (n.*281G>A) | |
| 14 | g.94379548C>A | CA487621481 | SERPINA1 | c.981G>T (p.Leu327=) c.*280G>T (n.*280G>T) | |
| 14 | g.94379548C= | CA2155951367 | SERPINA1 | c.981G= (p.Leu327=) c.*280G= (n.*280G=) | |
| 14 | g.94379548C>G | CA487621483 | SERPINA1 | c.981G>C (p.Leu327=) c.*280G>C (n.*280G>C) | |
| 14 | g.94379548C>T | CA487621485 | SERPINA1 | c.981G>A (p.Leu327=) c.*280G>A (n.*280G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379548_94379549insTA | CA616114922 | SERPINA1 | c.980_981insTA (p.Gly328ArgfsTer25) c.*279_*280insTA (n.*279_*280insTA) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379549A= | CA2155951370 | SERPINA1 | c.980T= (p.Leu327=) c.*279T= (n.*279T=) | |
| 14 | g.94379549A>C | CA390848159 | SERPINA1 | c.980T>G (p.Leu327Arg) c.*279T>G (n.*279T>G) | |
| 14 | g.94379549A>G | CA390848160 | SERPINA1 | c.980T>C (p.Leu327Pro) c.*279T>C (n.*279T>C) | |
| 14 | g.94379549A>T | CA390848161 | SERPINA1 | c.980T>A (p.Leu327Gln) c.*279T>A (n.*279T>A) | |
| 14 | g.94379550G>A | CA487621487 | SERPINA1 | c.979C>T (p.Leu327=) c.*278C>T (n.*278C>T) | gnomAD v4 COSMIC |
| 14 | g.94379550G>C | CA390848162 | SERPINA1 | c.979C>G (p.Leu327Val) c.*278C>G (n.*278C>G) | gnomAD v3 gnomAD v4 |
| 14 | g.94379550G>T | CA390848163 | SERPINA1 | c.979C>A (p.Leu327Met) c.*278C>A (n.*278C>A) | |
| 14 | g.94379551dup | CA616114923 | SERPINA1 | c.979dup (p.Leu327ProfsTer8) c.*278dup (n.*278dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379551G>A | CA7327336 | SERPINA1 | c.978C>T (p.Val326=) c.*277C>T (n.*277C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379551G>C | CA487621490 | SERPINA1 | c.978C>G (p.Val326=) c.*277C>G (n.*277C>G) | |
| 14 | g.94379551G= | CA2155951376 | SERPINA1 | c.978C= (p.Val326=) c.*277C= (n.*277C=) | |
| 14 | g.94379551G>T | CA487621489 | SERPINA1 | c.978C>A (p.Val326=) c.*277C>A (n.*277C>A) | |
| 14 | g.94379552A>C | CA390848164 | SERPINA1 | c.977T>G (p.Val326Gly) c.*276T>G (n.*276T>G) | |
| 14 | g.94379552A>G | CA390848165 | SERPINA1 | c.977T>C (p.Val326Ala) c.*276T>C (n.*276T>C) | |
| 14 | g.94379552A>T | CA390848166 | SERPINA1 | c.977T>A (p.Val326Asp) c.*276T>A (n.*276T>A) | |
| 14 | g.94379553C>A | CA390848167 | SERPINA1 | c.976G>T (p.Val326Phe) c.*275G>T (n.*275G>T) | |
| 14 | g.94379553C= | CA2155951384 | SERPINA1 | c.976G= (p.Val326=) c.*275G= (n.*275G=) | |
| 14 | g.94379553C>G | CA390848168 | SERPINA1 | c.976G>C (p.Val326Leu) c.*275G>C (n.*275G>C) | dbSNP |
| 14 | g.94379553C>T | CA7327337 | SERPINA1 | c.976G>A (p.Val326Ile) c.*275G>A (n.*275G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94379554G>A | CA7327338 | SERPINA1 | c.975C>T (p.Ser325=) c.*274C>T (n.*274C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94379554G>C | CA390848169 | SERPINA1 | c.975C>G (p.Ser325Arg) c.*274C>G (n.*274C>G) | |
| 14 | g.94379554G= | CA2155951390 | SERPINA1 | c.975C= (p.Ser325=) c.*274C= (n.*274C=) | |
| 14 | g.94379554G>T | CA390848170 | SERPINA1 | c.975C>A (p.Ser325Arg) c.*274C>A (n.*274C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379555C>A | CA390848171 | SERPINA1 | c.974G>T (p.Ser325Ile) c.*273G>T (n.*273G>T) | dbSNP |
| 14 | g.94379555C= | CA2155951393 | SERPINA1 | c.974G= (p.Ser325=) c.*273G= (n.*273G=) | |
| 14 | g.94379555C>G | CA390848172 | SERPINA1 | c.974G>C (p.Ser325Thr) c.*273G>C (n.*273G>C) | |
| 14 | g.94379555C>T | CA390848173 | SERPINA1 | c.974G>A (p.Ser325Asn) c.*273G>A (n.*273G>A) | |
| 14 | g.94379556T>A | CA265860984 | SERPINA1 | c.973A>T (p.Ser325Cys) c.*272A>T (n.*272A>T) | dbSNP |
| 14 | g.94379556T>C | CA390848174 | SERPINA1 | c.973A>G (p.Ser325Gly) c.*272A>G (n.*272A>G) | |
| 14 | g.94379556T>G | CA390848175 | SERPINA1 | c.973A>C (p.Ser325Arg) c.*272A>C (n.*272A>C) | |
| 14 | g.94379556T= | CA2155951397 | SERPINA1 | c.973A= (p.Ser325=) c.*272A= (n.*272A=) | |
| 14 | g.94379557C>A | CA390848177 | SERPINA1 | c.972G>T (p.Lys324Asn) c.*271G>T (n.*271G>T) | |
| 14 | g.94379557C= | CA2155951400 | SERPINA1 | c.972G= (p.Lys324=) c.*271G= (n.*271G=) | |
| 14 | g.94379557C>G | CA390848176 | SERPINA1 | c.972G>C (p.Lys324Asn) c.*271G>C (n.*271G>C) | |
| 14 | g.94379557C>T | CA7327339 | SERPINA1 | c.972G>A (p.Lys324=) c.*271G>A (n.*271G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379558T>A | CA390848178 | SERPINA1 | c.971A>T (p.Lys324Met) c.*270A>T (n.*270A>T) | |
| 14 | g.94379558T>C | CA390848179 | SERPINA1 | c.971A>G (p.Lys324Arg) c.*270A>G (n.*270A>G) | |
| 14 | g.94379558T>G | CA390848180 | SERPINA1 | c.971A>C (p.Lys324Thr) c.*270A>C (n.*270A>C) | |
| 14 | g.94379559T>A | CA390848181 | SERPINA1 | c.970A>T (p.Lys324Ter) c.*269A>T (n.*269A>T) | |
| 14 | g.94379559T>C | CA390848182 | SERPINA1 | c.970A>G (p.Lys324Glu) c.*269A>G (n.*269A>G) | gnomAD v4 |
| 14 | g.94379559T>G | CA390848183 | SERPINA1 | c.970A>C (p.Lys324Gln) c.*269A>C (n.*269A>C) | |
| 14 | g.94379560C>A | CA487621492 | SERPINA1 | c.969G>T (p.Leu323=) c.*268G>T (n.*268G>T) | |
| 14 | g.94379560C= | CA2155951405 | SERPINA1 | c.969G= (p.Leu323=) c.*268G= (n.*268G=) | |
| 14 | g.94379560C>G | CA265860987 | SERPINA1 | c.969G>C (p.Leu323=) c.*268G>C (n.*268G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379560C>T | CA487621493 | SERPINA1 | c.969G>A (p.Leu323=) c.*268G>A (n.*268G>A) | |
| 14 | g.94379561A>C | CA390848184 | SERPINA1 | c.968T>G (p.Leu323Arg) c.*267T>G (n.*267T>G) | |
| 14 | g.94379561A>G | CA390848185 | SERPINA1 | c.968T>C (p.Leu323Pro) c.*267T>C (n.*267T>C) | |
| 14 | g.94379561A>T | CA390848186 | SERPINA1 | c.968T>A (p.Leu323Gln) c.*267T>A (n.*267T>A) | |
| 14 | g.94379562G>A | CA7327340 | SERPINA1 | c.967C>T (p.Leu323=) c.*266C>T (n.*266C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379562G>C | CA390848187 | SERPINA1 | c.967C>G (p.Leu323Val) c.*266C>G (n.*266C>G) | |
| 14 | g.94379562G= | CA2155951411 | SERPINA1 | c.967C= (p.Leu323=) c.*266C= (n.*266C=) | |
| 14 | g.94379562G>T | CA390848188 | SERPINA1 | c.967C>A (p.Leu323Met) c.*266C>A (n.*266C>A) | |
| 14 | g.94379562_94379564dup | CA2626280275 | SERPINA1 | c.965_967dup (p.Asp322_Leu323insHis) c.*264_*266dup (n.*264_*266dup) | gnomAD v4 |
| 14 | g.94379563A= | CA2155951418 | SERPINA1 | c.966T= (p.Asp322=) c.*265T= (n.*265T=) | |
| 14 | g.94379563A>C | CA390848189 | SERPINA1 | c.966T>G (p.Asp322Glu) c.*265T>G (n.*265T>G) | |
| 14 | g.94379563A>G | CA7327341 | SERPINA1 | c.966T>C (p.Asp322=) c.*265T>C (n.*265T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94379563A>T | CA265860989 | SERPINA1 | c.966T>A (p.Asp322Glu) c.*265T>A (n.*265T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379564T>A | CA390848190 | SERPINA1 | c.965A>T (p.Asp322Val) c.*264A>T (n.*264A>T) | |
| 14 | g.94379564T>C | CA390848191 | SERPINA1 | c.965A>G (p.Asp322Gly) c.*264A>G (n.*264A>G) | |
| 14 | g.94379564T>G | CA390848192 | SERPINA1 | c.965A>C (p.Asp322Ala) c.*264A>C (n.*264A>C) | gnomAD v4 |
| 14 | g.94379565C>A | CA265860990 | SERPINA1 | c.964G>T (p.Asp322Tyr) c.*263G>T (n.*263G>T) | dbSNP |
| 14 | g.94379565C= | CA2155951425 | SERPINA1 | c.964G= (p.Asp322=) c.*263G= (n.*263G=) | |
| 14 | g.94379565C>G | CA390848193 | SERPINA1 | c.964G>C (p.Asp322His) c.*263G>C (n.*263G>C) | gnomAD v4 |
| 14 | g.94379565C>T | CA390848194 | SERPINA1 | c.964G>A (p.Asp322Asn) c.*263G>A (n.*263G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379566A= | CA2155951429 | SERPINA1 | c.963T= (p.Tyr321=) c.*262T= (n.*262T=) | |
| 14 | g.94379566A>C | CA390848195 | SERPINA1 | c.963T>G (p.Tyr321Ter) c.*262T>G (n.*262T>G) | |
| 14 | g.94379566A>G | CA487621494 | SERPINA1 | c.963T>C (p.Tyr321=) c.*262T>C (n.*262T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379566A>T | CA390848196 | SERPINA1 | c.963T>A (p.Tyr321Ter) c.*262T>A (n.*262T>A) | |
| 14 | g.94379567T>A | CA390848197 | SERPINA1 | c.962A>T (p.Tyr321Phe) c.*261A>T (n.*261A>T) | |
| 14 | g.94379567T>C | CA265860992 | SERPINA1 | c.962A>G (p.Tyr321Cys) c.*261A>G (n.*261A>G) | dbSNP gnomAD v4 |
| 14 | g.94379567T>G | CA390848198 | SERPINA1 | c.962A>C (p.Tyr321Ser) c.*261A>C (n.*261A>C) | |
| 14 | g.94379567T= | CA2155951436 | SERPINA1 | c.962A= (p.Tyr321=) c.*261A= (n.*261A=) | |
| 14 | g.94379568A>C | CA390848200 | SERPINA1 | c.961T>G (p.Tyr321Asp) c.*260T>G (n.*260T>G) | |
| 14 | g.94379568A>G | CA390848201 | SERPINA1 | c.961T>C (p.Tyr321His) c.*260T>C (n.*260T>C) | |
| 14 | g.94379568A>T | CA390848199 | SERPINA1 | c.961T>A (p.Tyr321Asn) c.*260T>A (n.*260T>A) | COSMIC |
| 14 | g.94379569G>A | CA265860993 | SERPINA1 | c.960C>T (p.Thr320=) c.*259C>T (n.*259C>T) | dbSNP |
| 14 | g.94379569G>C | CA487621495 | SERPINA1 | c.960C>G (p.Thr320=) c.*259C>G (n.*259C>G) | |
| 14 | g.94379569G= | CA2155951441 | SERPINA1 | c.960C= (p.Thr320=) c.*259C= (n.*259C=) | |
| 14 | g.94379569G>T | CA487621496 | SERPINA1 | c.960C>A (p.Thr320=) c.*259C>A (n.*259C>A) | |
| 14 | g.94379570G>A | CA390848202 | SERPINA1 | c.959C>T (p.Thr320Ile) c.*258C>T (n.*258C>T) | |
| 14 | g.94379570G>C | CA390848204 | SERPINA1 | c.959C>G (p.Thr320Ser) c.*258C>G (n.*258C>G) | |
| 14 | g.94379570G>T | CA390848203 | SERPINA1 | c.959C>A (p.Thr320Asn) c.*258C>A (n.*258C>A) | ClinVar |
| 14 | g.94379571T>A | CA390848205 | SERPINA1 | c.958A>T (p.Thr320Ser) c.*257A>T (n.*257A>T) | |
| 14 | g.94379571T>C | CA7327342 | SERPINA1 | c.958A>G (p.Thr320Ala) c.*257A>G (n.*257A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379571T>G | CA390848206 | SERPINA1 | c.958A>C (p.Thr320Pro) c.*257A>C (n.*257A>C) | ClinVar dbSNP |
| 14 | g.94379571T= | CA2155951444 | SERPINA1 | c.958A= (p.Thr320=) c.*257A= (n.*257A=) | |
| 14 | g.94379572T>A | CA487621497 | SERPINA1 | c.957A>T (p.Gly319=) c.*256A>T (n.*256A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94379572T>C | CA487621498 | SERPINA1 | c.957A>G (p.Gly319=) c.*256A>G (n.*256A>G) | |
| 14 | g.94379572T>G | CA487621499 | SERPINA1 | c.957A>C (p.Gly319=) c.*256A>C (n.*256A>C) | |
| 14 | g.94379572T= | CA2155951450 | SERPINA1 | c.957A= (p.Gly319=) c.*256A= (n.*256A=) | |
| 14 | g.94379573C>A | CA390848207 | SERPINA1 | c.956G>T (p.Gly319Val) c.*255G>T (n.*255G>T) | COSMIC |
| 14 | g.94379573C>G | CA390848208 | SERPINA1 | c.956G>C (p.Gly319Ala) c.*255G>C (n.*255G>C) | |
| 14 | g.94379573C>T | CA390848209 | SERPINA1 | c.956G>A (p.Gly319Glu) c.*255G>A (n.*255G>A) | COSMIC |
| 14 | g.94379574C>A | CA390848210 | SERPINA1 | c.955G>T (p.Gly319Ter) c.*254G>T (n.*254G>T) | |
| 14 | g.94379574C>G | CA390848211 | SERPINA1 | c.955G>C (p.Gly319Arg) c.*254G>C (n.*254G>C) | |
| 14 | g.94379574C>T | CA390848212 | SERPINA1 | c.955G>A (p.Gly319Arg) c.*254G>A (n.*254G>A) | |
| 14 | g.94379575A>C | CA487621500 | SERPINA1 | c.954T>G (p.Thr318=) c.*253T>G (n.*253T>G) | gnomAD v4 |
| 14 | g.94379575A>G | CA487621501 | SERPINA1 | c.954T>C (p.Thr318=) c.*253T>C (n.*253T>C) | |
| 14 | g.94379575A>T | CA487621502 | SERPINA1 | c.954T>A (p.Thr318=) c.*253T>A (n.*253T>A) | |
| 14 | g.94379576G>A | CA390848213 | SERPINA1 | c.953C>T (p.Thr318Ile) c.*252C>T (n.*252C>T) | |
| 14 | g.94379576G>C | CA390848214 | SERPINA1 | c.953C>G (p.Thr318Ser) c.*252C>G (n.*252C>G) | |
| 14 | g.94379576G>T | CA390848215 | SERPINA1 | c.953C>A (p.Thr318Asn) c.*252C>A (n.*252C>A) | |
| 14 | g.94379577T>A | CA265860994 | SERPINA1 | c.952A>T (p.Thr318Ser) c.*251A>T (n.*251A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379577T>C | CA390848216 | SERPINA1 | c.952A>G (p.Thr318Ala) c.*251A>G (n.*251A>G) | |
| 14 | g.94379577T>G | CA390848217 | SERPINA1 | c.952A>C (p.Thr318Pro) c.*251A>C (n.*251A>C) | |
| 14 | g.94379577T= | CA2155951453 | SERPINA1 | c.952A= (p.Thr318=) c.*251A= (n.*251A=) | |
| 14 | g.94379578A>C | CA390848218 | SERPINA1 | c.951T>G (p.Ile317Met) c.*250T>G (n.*250T>G) | |
| 14 | g.94379578A>G | CA487621503 | SERPINA1 | c.951T>C (p.Ile317=) c.*250T>C (n.*250T>C) | |
| 14 | g.94379578A>T | CA487621504 | SERPINA1 | c.951T>A (p.Ile317=) c.*250T>A (n.*250T>A) | |
| 14 | g.94379579A= | CA2155951455 | SERPINA1 | c.950T= (p.Ile317=) c.*249T= (n.*249T=) | |
| 14 | g.94379579A>C | CA390848219 | SERPINA1 | c.950T>G (p.Ile317Ser) c.*249T>G (n.*249T>G) | gnomAD v4 |
| 14 | g.94379579A>G | CA390848220 | SERPINA1 | c.950T>C (p.Ile317Thr) c.*249T>C (n.*249T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94379579A>T | CA390848221 | SERPINA1 | c.950T>A (p.Ile317Asn) c.*249T>A (n.*249T>A) | |
| 14 | g.94379580T>A | CA390848222 | SERPINA1 | c.949A>T (p.Ile317Phe) c.*248A>T (n.*248A>T) | gnomAD v4 |
| 14 | g.94379580T>C | CA390848223 | SERPINA1 | c.949A>G (p.Ile317Val) c.*248A>G (n.*248A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94379580T>G | CA390848224 | SERPINA1 | c.949A>C (p.Ile317Leu) c.*248A>C (n.*248A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94379580T= | CA2155951460 | SERPINA1 | c.949A= (p.Ile317=) c.*248A= (n.*248A=) | |
| 14 | g.94379581G>A | CA487621507 | SERPINA1 | c.948C>T (p.Ser316=) c.*247C>T (n.*247C>T) | |
| 14 | g.94379581G>C | CA487621506 | SERPINA1 | c.948C>G (p.Ser316=) c.*247C>G (n.*247C>G) | |
| 14 | g.94379581G>T | CA487621505 | SERPINA1 | c.948C>A (p.Ser316=) c.*247C>A (n.*247C>A) | |
| 14 | g.94379582dup | CA265860996 | SERPINA1 | c.948dup (p.Ile317HisfsTer6) c.*247dup (n.*247dup) | dbSNP |
| 14 | g.94379582G>A | CA390848225 | SERPINA1 | c.947C>T (p.Ser316Phe) c.*246C>T (n.*246C>T) | |
| 14 | g.94379582G>C | CA390848226 | SERPINA1 | c.947C>G (p.Ser316Cys) c.*246C>G (n.*246C>G) | |
| 14 | g.94379582G>T | CA390848227 | SERPINA1 | c.947C>A (p.Ser316Tyr) c.*246C>A (n.*246C>A) | gnomAD v4 |
| 14 | g.94379583A= | CA2155951470 | SERPINA1 | c.946T= (p.Ser316=) c.*245T= (n.*245T=) | |
| 14 | g.94379583A>C | CA390848229 | SERPINA1 | c.946T>G (p.Ser316Ala) c.*245T>G (n.*245T>G) | |
| 14 | g.94379583A>G | CA390848228 | SERPINA1 | c.946T>C (p.Ser316Pro) c.*245T>C (n.*245T>C) | gnomAD v4 |
| 14 | g.94379583A>T | CA7327343 | SERPINA1 | c.946T>A (p.Ser316Thr) c.*245T>A (n.*245T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94379584C>A | CA487621508 | SERPINA1 | c.945G>T (p.Leu315=) c.*244G>T (n.*244G>T) | COSMIC |
| 14 | g.94379584C= | CA2155951475 | SERPINA1 | c.945G= (p.Leu315=) c.*244G= (n.*244G=) | |
| 14 | g.94379584C>G | CA487621509 | SERPINA1 | c.945G>C (p.Leu315=) c.*244G>C (n.*244G>C) | |
| 14 | g.94379584C>T | CA487621510 | SERPINA1 | c.945G>A (p.Leu315=) c.*244G>A (n.*244G>A) | dbSNP |
| 14 | g.94379585A>C | CA390848230 | SERPINA1 | c.944T>G (p.Leu315Arg) c.*243T>G (n.*243T>G) | |
| 14 | g.94379585A>G | CA390848231 | SERPINA1 | c.944T>C (p.Leu315Pro) c.*243T>C (n.*243T>C) | dbSNP |
| 14 | g.94379585A>T | CA390848232 | SERPINA1 | c.944T>A (p.Leu315Gln) c.*243T>A (n.*243T>A) | |
| 14 | g.94379586G>A | CA487621511 | SERPINA1 | c.943C>T (p.Leu315=) c.*242C>T (n.*242C>T) | ClinVar gnomAD v4 |
| 14 | g.94379586G>C | CA390848233 | SERPINA1 | c.943C>G (p.Leu315Val) c.*242C>G (n.*242C>G) | |
| 14 | g.94379586G>T | CA390848234 | SERPINA1 | c.943C>A (p.Leu315Met) c.*242C>A (n.*242C>A) | |
| 14 | g.94379587T>A | CA390848235 | SERPINA1 | c.942A>T (p.Lys314Asn) c.*241A>T (n.*241A>T) | |
| 14 | g.94379587T>C | CA487621512 | SERPINA1 | c.942A>G (p.Lys314=) c.*241A>G (n.*241A>G) | |
| 14 | g.94379587T>G | CA390848236 | SERPINA1 | c.942A>C (p.Lys314Asn) c.*241A>C (n.*241A>C) | |
| 14 | g.94379588T>A | CA390848237 | SERPINA1 | c.941A>T (p.Lys314Ile) c.*240A>T (n.*240A>T) | |
| 14 | g.94379588T>C | CA390848238 | SERPINA1 | c.941A>G (p.Lys314Arg) c.*240A>G (n.*240A>G) | |
| 14 | g.94379588T>G | CA390848239 | SERPINA1 | c.941A>C (p.Lys314Thr) c.*240A>C (n.*240A>C) | gnomAD v4 |
| 14 | g.94379589T>A | CA390848240 | SERPINA1 | c.940A>T (p.Lys314Ter) c.*239A>T (n.*239A>T) | gnomAD v4 |
| 14 | g.94379589T>C | CA390848241 | SERPINA1 | c.940A>G (p.Lys314Glu) c.*239A>G (n.*239A>G) | |
| 14 | g.94379589T>G | CA390848242 | SERPINA1 | c.940A>C (p.Lys314Gln) c.*239A>C (n.*239A>C) | dbSNP gnomAD v4 |
| 14 | g.94379589T= | CA2155951477 | SERPINA1 | c.940A= (p.Lys314=) c.*239A= (n.*239A=) | |
| 14 | g.94379590G>A | CA487621513 | SERPINA1 | c.939C>T (p.Pro313=) c.*238C>T (n.*238C>T) | gnomAD v4 |
| 14 | g.94379590G>C | CA487621514 | SERPINA1 | c.939C>G (p.Pro313=) c.*238C>G (n.*238C>G) | gnomAD v4 |
| 14 | g.94379590G>T | CA487621515 | SERPINA1 | c.939C>A (p.Pro313=) c.*238C>A (n.*238C>A) | |
| 14 | g.94379591G>A | CA390848245 | SERPINA1 | c.938C>T (p.Pro313Leu) c.*237C>T (n.*237C>T) | |
| 14 | g.94379591G>C | CA390848243 | SERPINA1 | c.938C>G (p.Pro313Arg) c.*237C>G (n.*237C>G) | gnomAD v4 |
| 14 | g.94379591G>T | CA390848244 | SERPINA1 | c.938C>A (p.Pro313His) c.*237C>A (n.*237C>A) | |
| 14 | g.94379592G>A | CA7327344 | SERPINA1 | c.937C>T (p.Pro313Ser) c.*236C>T (n.*236C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94379592G>C | CA390848246 | SERPINA1 | c.937C>G (p.Pro313Ala) c.*236C>G (n.*236C>G) | |
| 14 | g.94379592G= | CA2155951481 | SERPINA1 | c.937C= (p.Pro313=) c.*236C= (n.*236C=) | |
| 14 | g.94379592G>T | CA390848247 | SERPINA1 | c.937C>A (p.Pro313Thr) c.*236C>A (n.*236C>A) | |
| 14 | g.94379593T>A | CA7327345 | SERPINA1 | c.936A>T (p.Leu312Phe) c.*235A>T (n.*235A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94379593T>C | CA487621517 | SERPINA1 | c.936A>G (p.Leu312=) c.*235A>G (n.*235A>G) | gnomAD v4 |
| 14 | g.94379593T>G | CA390848248 | SERPINA1 | c.936A>C (p.Leu312Phe) c.*235A>C (n.*235A>C) | |
| 14 | g.94379593T= | CA2155951487 | SERPINA1 | c.936A= (p.Leu312=) c.*235A= (n.*235A=) | |
| 14 | g.94379594A>C | CA390848249 | SERPINA1 | c.935T>G (p.Leu312Ter) c.*234T>G (n.*234T>G) | |
| 14 | g.94379594A>G | CA390848250 | SERPINA1 | c.935T>C (p.Leu312Ser) c.*234T>C (n.*234T>C) | |
| 14 | g.94379594A>T | CA390848251 | SERPINA1 | c.935T>A (p.Leu312Ter) c.*234T>A (n.*234T>A) | |
| 14 | g.94379595A>C | CA390848252 | SERPINA1 | c.934T>G (p.Leu312Val) c.*233T>G (n.*233T>G) | |
| 14 | g.94379595A>G | CA487621519 | SERPINA1 | c.934T>C (p.Leu312=) c.*233T>C (n.*233T>C) | ClinVar dbSNP |
| 14 | g.94379595A>T | CA390848253 | SERPINA1 | c.934T>A (p.Leu312Ile) c.*233T>A (n.*233T>A) | |
| 14 | g.94379596A>C | CA390848254 | SERPINA1 | c.933T>G (p.His311Gln) c.*232T>G (n.*232T>G) | |
| 14 | g.94379596A>G | CA487621520 | SERPINA1 | c.933T>C (p.His311=) c.*232T>C (n.*232T>C) | |
| 14 | g.94379596A>T | CA390848255 | SERPINA1 | c.933T>A (p.His311Gln) c.*232T>A (n.*232T>A) | |
| 14 | g.94379597T>A | CA390848258 | SERPINA1 | c.932A>T (p.His311Leu) c.*231A>T (n.*231A>T) | |
| 14 | g.94379597T>C | CA390848257 | SERPINA1 | c.932A>G (p.His311Arg) c.*231A>G (n.*231A>G) | gnomAD v4 |
| 14 | g.94379597T>G | CA390848256 | SERPINA1 | c.932A>C (p.His311Pro) c.*231A>C (n.*231A>C) | |
| 14 | g.94379598G>A | CA7327346 | SERPINA1 | c.931C>T (p.His311Tyr) c.*230C>T (n.*230C>T) | dbSNP ExAC |
| 14 | g.94379598G>C | CA390848260 | SERPINA1 | c.931C>G (p.His311Asp) c.*230C>G (n.*230C>G) | |
| 14 | g.94379598G= | CA2155951490 | SERPINA1 | c.931C= (p.His311=) c.*230C= (n.*230C=) | |
| 14 | g.94379598G>T | CA390848259 | SERPINA1 | c.931C>A (p.His311Asn) c.*230C>A (n.*230C>A) | |
| 14 | g.94379598_94379622dup | CA2626280288 | SERPINA1 | c.918-11_931dup c.*217-11_*230dup | gnomAD v4 |
| 14 | g.94379599T>A | CA390848261 | SERPINA1 | c.930A>T (p.Leu310Phe) c.*229A>T (n.*229A>T) | |
| 14 | g.94379599T>C | CA487621521 | SERPINA1 | c.930A>G (p.Leu310=) c.*229A>G (n.*229A>G) | |
| 14 | g.94379599T>G | CA390848262 | SERPINA1 | c.930A>C (p.Leu310Phe) c.*229A>C (n.*229A>C) | |
| 14 | g.94379600A>C | CA390848263 | SERPINA1 | c.929T>G (p.Leu310Ter) c.*228T>G (n.*228T>G) | |
| 14 | g.94379600A>G | CA390848264 | SERPINA1 | c.929T>C (p.Leu310Ser) c.*228T>C (n.*228T>C) | gnomAD v4 |
| 14 | g.94379600A>T | CA390848265 | SERPINA1 | c.929T>A (p.Leu310Ter) c.*228T>A (n.*228T>A) | |
| 14 | g.94379601A= | CA2155951493 | SERPINA1 | c.928T= (p.Leu310=) c.*227T= (n.*227T=) | |
| 14 | g.94379601A>C | CA390848266 | SERPINA1 | c.928T>G (p.Leu310Val) c.*227T>G (n.*227T>G) | gnomAD v4 |
| 14 | g.94379601A>G | CA487621524 | SERPINA1 | c.928T>C (p.Leu310=) c.*227T>C (n.*227T>C) | dbSNP gnomAD v2 |
| 14 | g.94379601A>T | CA390848267 | SERPINA1 | c.928T>A (p.Leu310Ile) c.*227T>A (n.*227T>A) | |
| 14 | g.94379602G>A | CA487621525 | SERPINA1 | c.927C>T (p.Ser309=) c.*226C>T (n.*226C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94379602G>C | CA390848268 | SERPINA1 | c.927C>G (p.Ser309Arg) c.*226C>G (n.*226C>G) | gnomAD v4 |
| 14 | g.94379602G= | CA2155951495 | SERPINA1 | c.927C= (p.Ser309=) c.*226C= (n.*226C=) | |
| 14 | g.94379602G>T | CA390848269 | SERPINA1 | c.927C>A (p.Ser309Arg) c.*226C>A (n.*226C>A) | gnomAD v4 |
| 14 | g.94379603C>A | CA390848270 | SERPINA1 | c.926G>T (p.Ser309Ile) c.*225G>T (n.*225G>T) | |
| 14 | g.94379603C= | CA2155951500 | SERPINA1 | c.926G= (p.Ser309=) c.*225G= (n.*225G=) | |
| 14 | g.94379603C>G | CA390848271 | SERPINA1 | c.926G>C (p.Ser309Thr) c.*225G>C (n.*225G>C) | |
| 14 | g.94379603C>T | CA7327347 | SERPINA1 | c.926G>A (p.Ser309Asn) c.*225G>A (n.*225G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379604T>A | CA390848274 | SERPINA1 | c.925A>T (p.Ser309Cys) c.*224A>T (n.*224A>T) | |
| 14 | g.94379604T>C | CA390848272 | SERPINA1 | c.925A>G (p.Ser309Gly) c.*224A>G (n.*224A>G) | |
| 14 | g.94379604T>G | CA390848273 | SERPINA1 | c.925A>C (p.Ser309Arg) c.*224A>C (n.*224A>C) | |
| 14 | g.94379605G>A | CA7327348 | SERPINA1 | c.924C>T (p.Ala308=) c.*223C>T (n.*223C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379605G>C | CA487621528 | SERPINA1 | c.924C>G (p.Ala308=) c.*223C>G (n.*223C>G) | |
| 14 | g.94379605G= | CA2155951507 | SERPINA1 | c.924C= (p.Ala308=) c.*223C= (n.*223C=) | |
| 14 | g.94379605G>T | CA487621527 | SERPINA1 | c.924C>A (p.Ala308=) c.*223C>A (n.*223C>A) | |
| 14 | g.94379606G>A | CA390848275 | SERPINA1 | c.923C>T (p.Ala308Val) c.*222C>T (n.*222C>T) | ClinVar dbSNP gnomAD v2 |
| 14 | g.94379606G>C | CA390848276 | SERPINA1 | c.923C>G (p.Ala308Gly) c.*222C>G (n.*222C>G) | |
| 14 | g.94379606G= | CA2155951511 | SERPINA1 | c.923C= (p.Ala308=) c.*222C= (n.*222C=) | |
| 14 | g.94379606G>T | CA390848277 | SERPINA1 | c.923C>A (p.Ala308Asp) c.*222C>A (n.*222C>A) | |
| 14 | g.94379607C>A | CA7327349 | SERPINA1 | c.922G>T (p.Ala308Ser) c.*221G>T (n.*221G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379607C= | CA2155951516 | SERPINA1 | c.922G= (p.Ala308=) c.*221G= (n.*221G=) | |
| 14 | g.94379607C>G | CA390848278 | SERPINA1 | c.922G>C (p.Ala308Pro) c.*221G>C (n.*221G>C) | |
| 14 | g.94379607C>T | CA390848279 | SERPINA1 | c.922G>A (p.Ala308Thr) c.*221G>A (n.*221G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94379608A= | CA2155951519 | SERPINA1 | c.921T= (p.Ser307=) c.*220T= (n.*220T=) | |
| 14 | g.94379608A>C | CA487621530 | SERPINA1 | c.921T>G (p.Ser307=) c.*220T>G (n.*220T>G) | gnomAD v4 |
| 14 | g.94379608A>G | CA7327350 | SERPINA1 | c.921T>C (p.Ser307=) c.*220T>C (n.*220T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379608A>T | CA487621531 | SERPINA1 | c.921T>A (p.Ser307=) c.*220T>A (n.*220T>A) | |
| 14 | g.94379609G>A | CA390848280 | SERPINA1 | c.920C>T (p.Ser307Phe) c.*219C>T (n.*219C>T) | |
| 14 | g.94379609G>C | CA390848281 | SERPINA1 | c.920C>G (p.Ser307Cys) c.*219C>G (n.*219C>G) | |
| 14 | g.94379609G>T | CA390848282 | SERPINA1 | c.920C>A (p.Ser307Tyr) c.*219C>A (n.*219C>A) | |
| 14 | g.94379610A>C | CA390848285 | SERPINA1 | c.919T>G (p.Ser307Ala) c.*218T>G (n.*218T>G) | |
| 14 | g.94379610A>G | CA390848284 | SERPINA1 | c.919T>C (p.Ser307Pro) c.*218T>C (n.*218T>C) | |
| 14 | g.94379610A>T | CA390848283 | SERPINA1 | c.919T>A (p.Ser307Thr) c.*218T>A (n.*218T>A) | gnomAD v4 |
| 14 | g.94379611C>A | CA390848286 | SERPINA1 | c.918G>T (p.Arg306Ser) c.*217G>T (n.*217G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94379611C= | CA2155951521 | SERPINA1 | c.918G= (p.Arg306=) c.*217G= (n.*217G=) | |
| 14 | g.94379611C>G | CA390848287 | SERPINA1 | c.918G>C (p.Arg306Ser) c.*217G>C (n.*217G>C) | |
| 14 | g.94379611C>T | CA7327351 | SERPINA1 | c.918G>A (p.Arg306=) c.*217G>A (n.*217G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379612C>A | CA7327352 | SERPINA1 | c.918-1G>T (n.918-1G>T) c.*217-1G>T (n.*217-1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94379612C= | CA2155951526 | SERPINA1 | c.918-1G= (n.918-1G=) c.*217-1G= (n.*217-1G=) | |
| 14 | g.94379612C>G | CA390848288 | SERPINA1 | c.918-1G>C (n.918-1G>C) c.*217-1G>C (n.*217-1G>C) | |
| 14 | g.94379612C>T | CA390848289 | SERPINA1 | c.918-1G>A (n.918-1G>A) c.*217-1G>A (n.*217-1G>A) | dbSNP gnomAD v4 |
| 14 | g.94379613T>A | CA390848290 | SERPINA1 | c.918-2A>T (n.918-2A>T) c.*217-2A>T (n.*217-2A>T) | |
| 14 | g.94379613T>C | CA390848291 | SERPINA1 | c.918-2A>G (n.918-2A>G) c.*217-2A>G (n.*217-2A>G) | |
| 14 | g.94379613T>G | CA390848292 | SERPINA1 | c.918-2A>C (n.918-2A>C) c.*217-2A>C (n.*217-2A>C) | |
| 14 | g.94379613_94379614insTCTGTCTTCATTTTCCAGGAACTTGGTGATGATATCGTGGGTGAGTTCATTTTCCAGGTGCTGTAGTTTCCCCTCATCAGGCAGGAAGAAGATGGCG | CA2802663754 | SERPINA1 | c.918-3_918-2insCGCCATCTTCTTCCTGCCTGATGAGGGGAAACTACAGCACCTGGAAAATGAACTCACCCACGATATCATCACCAAGTTCCTGGAAAATGAAGACAGA (n.918-3_918-2insCGCCATCTTCTTCCTGCCTGATGAGGGGAAACTACAGCACCTGGAAAATGAACTCACCCACGATATCATCACCAAGTTCCTGGAAAATGAAGACAGA) c.*217-3_*217-2insCGCCATCTTCTTCCTGCCTGATGAGGGGAAACTACAGCACCTGGAAAATGAACTCACCCACGATATCATCACCAAGTTCCTGGAAAATGAAGACAGA (n.*217-3_*217-2insCGCCATCTTCTTCCTGCCTGATGAGGGGAAACTACAGCACCTGGAAAATGAACTCACCCACGATATCATCACCAAGTTCCTGGAAAATGAAGACAGA) | |
| 14 | g.94379614G>C | CA265861004 | SERPINA1 | c.918-3C>G (n.918-3C>G) c.*217-3C>G (n.*217-3C>G) | dbSNP |
| 14 | g.94379614G= | CA2155951529 | SERPINA1 | c.918-3C= (n.918-3C=) c.*217-3C= (n.*217-3C=) | |
| 14 | g.94379614G>T | CA265861002 | SERPINA1 | c.918-3C>A (n.918-3C>A) c.*217-3C>A (n.*217-3C>A) | dbSNP |
| 14 | g.94379615T>C | CA7327353 | SERPINA1 | c.918-4A>G (n.918-4A>G) c.*217-4A>G (n.*217-4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94379615T= | CA2155951534 | SERPINA1 | c.918-4A= (n.918-4A=) c.*217-4A= (n.*217-4A=) | |
| 14 | g.94379616C= | CA2155951540 | SERPINA1 | c.918-5G= (n.918-5G=) c.*217-5G= (n.*217-5G=) | |
| 14 | g.94379616C>G | CA616114924 | SERPINA1 | c.918-5G>C (n.918-5G>C) c.*217-5G>C (n.*217-5G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94379616C>T | CA7327354 | SERPINA1 | c.918-5G>A (n.918-5G>A) c.*217-5G>A (n.*217-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |