Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94380907T>A | CA390848378 | SERPINA1 | c.881A>T (p.Asp294Val) | |
14 | g.94380907T>C | CA390848377 | SERPINA1 | c.881A>G (p.Asp294Gly) | gnomAD v4 |
14 | g.94380907T>G | CA390848376 | SERPINA1 | c.881A>C (p.Asp294Ala) | |
14 | g.94380908C>A | CA390848379 | SERPINA1 | c.880G>T (p.Asp294Tyr) | gnomAD v4 |
14 | g.94380908C= | CA2155953850 | SERPINA1 | c.880G= (p.Asp294=) | |
14 | g.94380908C>G | CA390848380 | SERPINA1 | c.880G>C (p.Asp294His) | |
14 | g.94380908C>T | CA7327385 | SERPINA1 | c.880G>A (p.Asp294Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380909G>A | CA265863749 | SERPINA1 | c.879C>T (p.His293=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.94380909G>C | CA349696 | SERPINA1 | c.879C>G (p.His293Gln) | ClinVar dbSNP |
14 | g.94380909G= | CA2155953851 | SERPINA1 | c.879C= (p.His293=) | |
14 | g.94380909G>T | CA7327386 | SERPINA1 | c.879C>A (p.His293Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380910_94380912del | CA2550231306 | SERPINA1 | c.877_879del (p.His293del) | |
14 | g.94380910T>A | CA390848381 | SERPINA1 | c.878A>T (p.His293Leu) | |
14 | g.94380910T>C | CA390848383 | SERPINA1 | c.878A>G (p.His293Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380910T>G | CA390848382 | SERPINA1 | c.878A>C (p.His293Pro) | |
14 | g.94380910T= | CA2155953852 | SERPINA1 | c.878A= (p.His293=) | |
14 | g.94380911G>A | CA390848384 | SERPINA1 | c.877C>T (p.His293Tyr) | |
14 | g.94380911G>C | CA390848385 | SERPINA1 | c.877C>G (p.His293Asp) | gnomAD v4 |
14 | g.94380911G>T | CA390848386 | SERPINA1 | c.877C>A (p.His293Asn) | |
14 | g.94380912G>A | CA487840943 | SERPINA1 | c.876C>T (p.Thr292=) | ClinVar gnomAD v4 |
14 | g.94380912G>C | CA487840946 | SERPINA1 | c.876C>G (p.Thr292=) | |
14 | g.94380912G>T | CA487840945 | SERPINA1 | c.876C>A (p.Thr292=) | |
14 | g.94380913G>A | CA7327387 | SERPINA1 | c.875C>T (p.Thr292Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380913G>C | CA390848387 | SERPINA1 | c.875C>G (p.Thr292Ser) | |
14 | g.94380913G= | CA2155953853 | SERPINA1 | c.875C= (p.Thr292=) | |
14 | g.94380913G>T | CA390848388 | SERPINA1 | c.875C>A (p.Thr292Asn) | |
14 | g.94380914T>A | CA390848389 | SERPINA1 | c.874A>T (p.Thr292Ser) | |
14 | g.94380914T>C | CA7327388 | SERPINA1 | c.874A>G (p.Thr292Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380914T>G | CA390848390 | SERPINA1 | c.874A>C (p.Thr292Pro) | |
14 | g.94380914T= | CA2155953854 | SERPINA1 | c.874A= (p.Thr292=) | |
14 | g.94380915G>A | CA7327389 | SERPINA1 | c.873C>T (p.Leu291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94380915G>C | CA487840949 | SERPINA1 | c.873C>G (p.Leu291=) | gnomAD v4 |
14 | g.94380915G= | CA2155953855 | SERPINA1 | c.873C= (p.Leu291=) | |
14 | g.94380915G>T | CA487840950 | SERPINA1 | c.873C>A (p.Leu291=) | |
14 | g.94380916del | CA2513064073 | SERPINA1 | c.872del (p.Leu291ProfsTer?) c.872del (p.Leu291ProfsTer21) | |
14 | g.94380916A>C | CA390848391 | SERPINA1 | c.872T>G (p.Leu291Arg) | |
14 | g.94380916A>G | CA390848393 | SERPINA1 | c.872T>C (p.Leu291Pro) | |
14 | g.94380916A>T | CA390848392 | SERPINA1 | c.872T>A (p.Leu291His) | |
14 | g.94380917G>A | CA390848394 | SERPINA1 | c.871C>T (p.Leu291Phe) | dbSNP gnomAD v4 |
14 | g.94380917G>C | CA390848396 | SERPINA1 | c.871C>G (p.Leu291Val) | |
14 | g.94380917G= | CA2155953856 | SERPINA1 | c.871C= (p.Leu291=) | |
14 | g.94380917G>T | CA390848395 | SERPINA1 | c.871C>A (p.Leu291Ile) | |
14 | g.94380918T>A | CA390848397 | SERPINA1 | c.870A>T (p.Glu290Asp) | |
14 | g.94380918T>C | CA487840952 | SERPINA1 | c.870A>G (p.Glu290=) | |
14 | g.94380918T>G | CA390848398 | SERPINA1 | c.870A>C (p.Glu290Asp) | |
14 | g.94380918_94380919insCGCCGTA | CA2567443188 | SERPINA1 | c.869_870insTACGGCG (p.Glu290AspfsTer16) | |
14 | g.94380919T>A | CA390848399 | SERPINA1 | c.869A>T (p.Glu290Val) | |
14 | g.94380919T>C | CA390848401 | SERPINA1 | c.869A>G (p.Glu290Gly) | |
14 | g.94380919T>G | CA390848400 | SERPINA1 | c.869A>C (p.Glu290Ala) | |
14 | g.94380920C>A | CA390848402 | SERPINA1 | c.868G>T (p.Glu290Ter) | |
14 | g.94380920C= | CA2155953857 | SERPINA1 | c.868G= (p.Glu290=) | |
14 | g.94380920C>G | CA390848403 | SERPINA1 | c.868G>C (p.Glu290Gln) | |
14 | g.94380920C>T | CA390848404 | SERPINA1 | c.868G>A (p.Glu290Lys) | |
14 | g.94380921A= | CA2155953858 | SERPINA1 | c.867T= (p.Asn289=) | |
14 | g.94380921A>C | CA390848405 | SERPINA1 | c.867T>G (p.Asn289Lys) | |
14 | g.94380921A>G | CA487840956 | SERPINA1 | c.867T>C (p.Asn289=) | |
14 | g.94380921A>T | CA390848406 | SERPINA1 | c.867T>A (p.Asn289Lys) | |
14 | g.94380922T>A | CA390848407 | SERPINA1 | c.866A>T (p.Asn289Ile) | |
14 | g.94380922T>C | CA390848408 | SERPINA1 | c.866A>G (p.Asn289Ser) | |
14 | g.94380922T>G | CA390848409 | SERPINA1 | c.866A>C (p.Asn289Thr) | |
14 | g.94380925dup | CA645509532 | SERPINA1 | c.866dup (p.Asn289LysfsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94380925_94380941del | CA2695219657 | SERPINA1 | c.850_866del (p.Leu284Ter) | |
14 | g.94380923T>A | CA390848410 | SERPINA1 | c.865A>T (p.Asn289Tyr) | |
14 | g.94380923T>C | CA390848411 | SERPINA1 | c.865A>G (p.Asn289Asp) | |
14 | g.94380923T>G | CA7327390 | SERPINA1 | c.865A>C (p.Asn289His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380923T= | CA2155953859 | SERPINA1 | c.865A= (p.Asn289=) | |
14 | g.94380924T>A | CA390848412 | SERPINA1 | c.864A>T (p.Glu288Asp) | |
14 | g.94380924T>C | CA487840960 | SERPINA1 | c.864A>G (p.Glu288=) | |
14 | g.94380924T>G | CA390848413 | SERPINA1 | c.864A>C (p.Glu288Asp) | |
14 | g.94380924_94380932del | CA2515417830 | SERPINA1 | c.856_864del (p.His286_Glu288del) | |
14 | g.94380925T>A | CA127679 | SERPINA1 | c.863A>T (p.Glu288Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.[94380925T>A;94382636T>C] | CA645511342 | SERPINA1 | c.[602A>G;863A>T] (p.[Asp201Gly;Glu288Val]) | |
14 | g.[94380925T>A;94383048G>T] | CA645511343 | SERPINA1 | c.[190C>A;863A>T] (p.[Gln64Lys;Glu288Val]) | |
14 | g.94380925T>C | CA390848415 | SERPINA1 | c.863A>G (p.Glu288Gly) | |
14 | g.94380925T>G | CA390848414 | SERPINA1 | c.863A>C (p.Glu288Ala) | |
14 | g.94380925T= | CA1630856180 | SERPINA1 | c.863A= (p.Glu288=) | |
14 | g.94380926C>A | CA390848416 | SERPINA1 | c.862G>T (p.Glu288Ter) | |
14 | g.94380926C>G | CA390848417 | SERPINA1 | c.862G>C (p.Glu288Gln) | |
14 | g.94380926C>T | CA390848418 | SERPINA1 | c.862G>A (p.Glu288Lys) | |
14 | g.94380927C>A | CA487840963 | SERPINA1 | c.861G>T (p.Leu287=) | |
14 | g.94380927C= | CA2155953860 | SERPINA1 | c.861G= (p.Leu287=) | |
14 | g.94380927C>G | CA487840961 | SERPINA1 | c.861G>C (p.Leu287=) | |
14 | g.94380927C>T | CA487840962 | SERPINA1 | c.861G>A (p.Leu287=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94380928A= | CA2155953861 | SERPINA1 | c.860T= (p.Leu287=) | |
14 | g.94380928A>C | CA390848419 | SERPINA1 | c.860T>G (p.Leu287Arg) | |
14 | g.94380928A>G | CA390848420 | SERPINA1 | c.860T>C (p.Leu287Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94380928A>T | CA390848421 | SERPINA1 | c.860T>A (p.Leu287Gln) | |
14 | g.94380929G>A | CA487840965 | SERPINA1 | c.859C>T (p.Leu287=) | |
14 | g.94380929G>C | CA390848422 | SERPINA1 | c.859C>G (p.Leu287Val) | |
14 | g.94380929G>T | CA390848423 | SERPINA1 | c.859C>A (p.Leu287Met) | |
14 | g.94380930G>A | CA487840966 | SERPINA1 | c.858C>T (p.His286=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94380930G>C | CA390848424 | SERPINA1 | c.858C>G (p.His286Gln) | |
14 | g.94380930G= | CA2155953862 | SERPINA1 | c.858C= (p.His286=) | |
14 | g.94380930G>T | CA390848425 | SERPINA1 | c.858C>A (p.His286Gln) | |
14 | g.94380931T>A | CA390848428 | SERPINA1 | c.857A>T (p.His286Leu) | |
14 | g.94380931T>C | CA390848427 | SERPINA1 | c.857A>G (p.His286Arg) | |
14 | g.94380931T>G | CA390848426 | SERPINA1 | c.857A>C (p.His286Pro) | |
14 | g.94380932G>A | CA7327391 | SERPINA1 | c.856C>T (p.His286Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380932G>C | CA390848429 | SERPINA1 | c.856C>G (p.His286Asp) | |
14 | g.94380932G= | CA2155953863 | SERPINA1 | c.856C= (p.His286=) | |
14 | g.94380932G>T | CA390848430 | SERPINA1 | c.856C>A (p.His286Asn) | |
14 | g.94380932_94380933insAAAAAA | CA2528267626 | SERPINA1 | c.855_856insTTTTTT (p.Gln285_His286insPhePhe) | |
14 | g.94380933C>A | CA390848431 | SERPINA1 | c.855G>T (p.Gln285His) | |
14 | g.94380933C= | CA2155953864 | SERPINA1 | c.855G= (p.Gln285=) | |
14 | g.94380933C>G | CA390848432 | SERPINA1 | c.855G>C (p.Gln285His) | |
14 | g.94380933C>T | CA487840970 | SERPINA1 | c.855G>A (p.Gln285=) | dbSNP COSMIC |
14 | g.94380934T>A | CA390848433 | SERPINA1 | c.854A>T (p.Gln285Leu) | |
14 | g.94380934T>C | CA390848434 | SERPINA1 | c.854A>G (p.Gln285Arg) | |
14 | g.94380934T>G | CA390848435 | SERPINA1 | c.854A>C (p.Gln285Pro) | COSMIC |
14 | g.94380935G>A | CA390848436 | SERPINA1 | c.853C>T (p.Gln285Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.94380935G>C | CA390848438 | SERPINA1 | c.853C>G (p.Gln285Glu) | |
14 | g.94380935G= | CA2155953865 | SERPINA1 | c.853C= (p.Gln285=) | |
14 | g.94380935G>T | CA390848437 | SERPINA1 | c.853C>A (p.Gln285Lys) | |
14 | g.94380936T>A | CA487840975 | SERPINA1 | c.852A>T (p.Leu284=) | |
14 | g.94380936T>C | CA265863754 | SERPINA1 | c.852A>G (p.Leu284=) | dbSNP gnomAD v4 |
14 | g.94380936T>G | CA487840976 | SERPINA1 | c.852A>C (p.Leu284=) | |
14 | g.94380936T= | CA2155953866 | SERPINA1 | c.852A= (p.Leu284=) | |
14 | g.94380937A>C | CA390848439 | SERPINA1 | c.851T>G (p.Leu284Arg) | |
14 | g.94380937A>G | CA390848440 | SERPINA1 | c.851T>C (p.Leu284Pro) | dbSNP |
14 | g.94380937A>T | CA390848441 | SERPINA1 | c.851T>A (p.Leu284Gln) | |
14 | g.94380938G>A | CA7327392 | SERPINA1 | c.850C>T (p.Leu284=) | dbSNP ExAC |
14 | g.94380938G>C | CA390848443 | SERPINA1 | c.850C>G (p.Leu284Val) | |
14 | g.94380938G= | CA2155953867 | SERPINA1 | c.850C= (p.Leu284=) | |
14 | g.94380938G>T | CA390848442 | SERPINA1 | c.850C>A (p.Leu284Ile) | |
14 | g.94380939T>A | CA390848444 | SERPINA1 | c.849A>T (p.Lys283Asn) | |
14 | g.94380939T>C | CA487840977 | SERPINA1 | c.849A>G (p.Lys283=) | |
14 | g.94380939T>G | CA390848445 | SERPINA1 | c.849A>C (p.Lys283Asn) | |
14 | g.94380941del | CA487840978 | SERPINA1 | c.849del (p.Lys283AsnfsTer?) c.849del (p.Lys283AsnfsTer29) | COSMIC |
14 | g.94380940T>A | CA348043 | SERPINA1 | c.848A>T (p.Lys283Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94380940T>C | CA390848446 | SERPINA1 | c.848A>G (p.Lys283Arg) | |
14 | g.94380940T>G | CA390848447 | SERPINA1 | c.848A>C (p.Lys283Thr) | |
14 | g.94380940T= | CA2155953868 | SERPINA1 | c.848A= (p.Lys283=) | |
14 | g.94380941T>A | CA390848448 | SERPINA1 | c.847A>T (p.Lys283Ter) | ClinVar dbSNP gnomAD v4 |
14 | g.94380941T>C | CA390848449 | SERPINA1 | c.847A>G (p.Lys283Glu) | |
14 | g.94380941T>G | CA390848450 | SERPINA1 | c.847A>C (p.Lys283Gln) | |
14 | g.94380941T= | CA2155953869 | SERPINA1 | c.847A= (p.Lys283=) | |
14 | g.94380942C>A | CA7327393 | SERPINA1 | c.846G>T (p.Gly282=) | dbSNP ExAC gnomAD v2 |
14 | g.94380942C= | CA2155953870 | SERPINA1 | c.846G= (p.Gly282=) | |
14 | g.94380942C>G | CA487840980 | SERPINA1 | c.846G>C (p.Gly282=) | |
14 | g.94380942C>T | CA487840979 | SERPINA1 | c.846G>A (p.Gly282=) | gnomAD v4 |
14 | g.94380943C>A | CA390848451 | SERPINA1 | c.845G>T (p.Gly282Val) | |
14 | g.94380943C>G | CA390848452 | SERPINA1 | c.845G>C (p.Gly282Ala) | gnomAD v4 |
14 | g.94380943C>T | CA390848453 | SERPINA1 | c.845G>A (p.Gly282Glu) | gnomAD v4 |
14 | g.94380944C>A | CA390848455 | SERPINA1 | c.844G>T (p.Gly282Trp) | |
14 | g.94380944C= | CA2155953871 | SERPINA1 | c.844G= (p.Gly282=) | |
14 | g.94380944C>G | CA390848454 | SERPINA1 | c.844G>C (p.Gly282Arg) | |
14 | g.94380944C>T | CA7327394 | SERPINA1 | c.844G>A (p.Gly282Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380945C>A | CA390848456 | SERPINA1 | c.843G>T (p.Glu281Asp) | |
14 | g.94380945C= | CA2155953872 | SERPINA1 | c.843G= (p.Glu281=) | |
14 | g.94380945C>G | CA390848457 | SERPINA1 | c.843G>C (p.Glu281Asp) | |
14 | g.94380945C>T | CA487840981 | SERPINA1 | c.843G>A (p.Glu281=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380946T>A | CA390848458 | SERPINA1 | c.842A>T (p.Glu281Val) | |
14 | g.94380946T>C | CA390848459 | SERPINA1 | c.842A>G (p.Glu281Gly) | |
14 | g.94380946T>G | CA390848460 | SERPINA1 | c.842A>C (p.Glu281Ala) | |
14 | g.94380947C>A | CA390848462 | SERPINA1 | c.841G>T (p.Glu281Ter) | ClinVar dbSNP |
14 | g.94380947C= | CA2155953874 | SERPINA1 | c.841G= (p.Glu281=) | |
14 | g.94380947C>G | CA390848461 | SERPINA1 | c.841G>C (p.Glu281Gln) | |
14 | g.94380947C>T | CA7327395 | SERPINA1 | c.841G>A (p.Glu281Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380947_94380949delinsCAT | CA2155953873 | SERPINA1 | c.839_841delinsATG (p.Asp280=) | |
14 | g.94380948A= | CA2155953875 | SERPINA1 | c.840T= (p.Asp280=) | |
14 | g.94380948A>C | CA390848463 | SERPINA1 | c.840T>G (p.Asp280Glu) | dbSNP |
14 | g.94380948A>G | CA177903 | SERPINA1 | c.840T>C (p.Asp280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380948A>T | CA390848464 | SERPINA1 | c.840T>A (p.Asp280Glu) | dbSNP gnomAD v3 gnomAD v4 |
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) | ClinVar 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) | |
14 | g.94380962A>T | CA390848509 | SERPINA1 | c.826T>A (p.Phe276Ile) | |
14 | g.94380963G>A | CA487840992 | SERPINA1 | c.825C>T (p.Ile275=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380963G>C | CA390848510 | SERPINA1 | c.825C>G (p.Ile275Met) | |
14 | g.94380963G= | CA2155953881 | SERPINA1 | c.825C= (p.Ile275=) | |
14 | g.94380963G>T | CA487840991 | SERPINA1 | c.825C>A (p.Ile275=) | |
14 | g.94380964A>C | CA390848515 | SERPINA1 | c.824T>G (p.Ile275Ser) | |
14 | g.94380964A>G | CA390848514 | SERPINA1 | c.824T>C (p.Ile275Thr) | gnomAD v4 |
14 | g.94380964A>T | CA390848512 | SERPINA1 | c.824T>A (p.Ile275Asn) | |
14 | g.94380965T>A | CA390848517 | SERPINA1 | c.823A>T (p.Ile275Phe) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94380965T>C | CA390848518 | SERPINA1 | c.823A>G (p.Ile275Val) | |
14 | g.94380965T>G | CA390848520 | SERPINA1 | c.823A>C (p.Ile275Leu) | |
14 | g.94380965T= | CA2155953882 | SERPINA1 | c.823A= (p.Ile275=) | |
14 | g.94380966G>A | CA7327397 | SERPINA1 | c.822C>T (p.Ala274=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380966G>C | CA487840993 | SERPINA1 | c.822C>G (p.Ala274=) | |
14 | g.94380966G= | CA2155953883 | SERPINA1 | c.822C= (p.Ala274=) | |
14 | g.94380966G>T | CA487840994 | SERPINA1 | c.822C>A (p.Ala274=) | |
14 | g.94380967G>A | CA390848522 | SERPINA1 | c.821C>T (p.Ala274Val) | |
14 | g.94380967G>C | CA390848523 | SERPINA1 | c.821C>G (p.Ala274Gly) | |
14 | g.94380967G>T | CA390848525 | SERPINA1 | c.821C>A (p.Ala274Asp) | |
14 | g.94380968C>A | CA7327399 | SERPINA1 | c.820G>T (p.Ala274Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380968C= | CA2155953884 | SERPINA1 | c.820G= (p.Ala274=) | |
14 | g.94380968C>G | CA390848528 | SERPINA1 | c.820G>C (p.Ala274Pro) | |
14 | g.94380968C>T | CA7327398 | SERPINA1 | c.820G>A (p.Ala274Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94380969G>A | CA7327400 | SERPINA1 | c.819C>T (p.Thr273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380969G>C | CA7327401 | SERPINA1 | c.819C>G (p.Thr273=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380969G= | CA2155953885 | SERPINA1 | c.819C= (p.Thr273=) | |
14 | g.94380969G>T | CA487840995 | SERPINA1 | c.819C>A (p.Thr273=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94380970G>A | CA390848532 | SERPINA1 | c.818C>T (p.Thr273Ile) | |
14 | g.94380970G>C | CA390848534 | SERPINA1 | c.818C>G (p.Thr273Ser) | gnomAD v4 |
14 | g.94380970G>T | CA390848533 | SERPINA1 | c.818C>A (p.Thr273Asn) | |
14 | g.94380971T>A | CA390848536 | SERPINA1 | c.817A>T (p.Thr273Ser) | |
14 | g.94380971T>C | CA390848540 | SERPINA1 | c.817A>G (p.Thr273Ala) | gnomAD v4 |
14 | g.94380971T>G | CA390848538 | SERPINA1 | c.817A>C (p.Thr273Pro) | |
14 | g.94380972G>A | CA487840996 | SERPINA1 | c.816C>T (p.Ala272=) | gnomAD v4 |
14 | g.94380972G>C | CA487840997 | SERPINA1 | c.816C>G (p.Ala272=) | |
14 | g.94380972G>T | CA487840998 | SERPINA1 | c.816C>A (p.Ala272=) | gnomAD v4 |
14 | g.94380973G>A | CA390848541 | SERPINA1 | c.815C>T (p.Ala272Val) | gnomAD v4 |
14 | g.94380973G>C | CA390848544 | SERPINA1 | c.815C>G (p.Ala272Gly) | |
14 | g.94380973G= | CA2155953886 | SERPINA1 | c.815C= (p.Ala272=) | |
14 | g.94380973G>T | CA265863761 | SERPINA1 | c.815C>A (p.Ala272Asp) | dbSNP gnomAD v4 |
14 | g.94380974C>A | CA390848546 | SERPINA1 | c.814G>T (p.Ala272Ser) | |
14 | g.94380974C>G | CA390848547 | SERPINA1 | c.814G>C (p.Ala272Pro) | |
14 | g.94380974C>T | CA390848549 | SERPINA1 | c.814G>A (p.Ala272Thr) | |
14 | g.94380975A>C | CA390848551 | SERPINA1 | c.813T>G (p.Asn271Lys) | |
14 | g.94380975A>G | CA487840999 | SERPINA1 | c.813T>C (p.Asn271=) | |
14 | g.94380975A>T | CA390848553 | SERPINA1 | c.813T>A (p.Asn271Lys) | gnomAD v4 |
14 | g.94380976T>A | CA390848555 | SERPINA1 | c.812A>T (p.Asn271Ile) | |
14 | g.94380976T>C | CA390848556 | SERPINA1 | c.812A>G (p.Asn271Ser) | |
14 | g.94380976T>G | CA390848557 | SERPINA1 | c.812A>C (p.Asn271Thr) | |
14 | g.94380977T>A | CA390848558 | SERPINA1 | c.811A>T (p.Asn271Tyr) | gnomAD v4 |
14 | g.94380977T>C | CA7327402 | SERPINA1 | c.811A>G (p.Asn271Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380977T>G | CA390848560 | SERPINA1 | c.811A>C (p.Asn271His) | |
14 | g.94380977T= | CA2155953887 | SERPINA1 | c.811A= (p.Asn271=) | |
14 | g.94380978G>A | CA487841000 | SERPINA1 | c.810C>T (p.Gly270=) | |
14 | g.94380978G>C | CA487841001 | SERPINA1 | c.810C>G (p.Gly270=) | |
14 | g.94380978G>T | CA487841002 | SERPINA1 | c.810C>A (p.Gly270=) | gnomAD v4 |
14 | g.94380979C>A | CA390848565 | SERPINA1 | c.809G>T (p.Gly270Val) | |
14 | g.94380979C= | CA2155953888 | SERPINA1 | c.809G= (p.Gly270=) | |
14 | g.94380979C>G | CA390848561 | SERPINA1 | c.809G>C (p.Gly270Ala) | |
14 | g.94380979C>T | CA390848563 | SERPINA1 | c.809G>A (p.Gly270Asp) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94380980C>A | CA390848566 | SERPINA1 | c.808G>T (p.Gly270Cys) | |
14 | g.94380980C>G | CA390848568 | SERPINA1 | c.808G>C (p.Gly270Arg) | |
14 | g.94380980C>T | CA390848570 | SERPINA1 | c.808G>A (p.Gly270Ser) | |
14 | g.94380981C>A | CA487841003 | SERPINA1 | c.807G>T (p.Leu269=) | |
14 | g.94380981C= | CA2155953889 | SERPINA1 | c.807G= (p.Leu269=) | |
14 | g.94380981C>G | CA487841004 | SERPINA1 | c.807G>C (p.Leu269=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94380981C>T | CA487841005 | SERPINA1 | c.807G>A (p.Leu269=) | |
14 | g.94380982A>C | CA390848571 | SERPINA1 | c.806T>G (p.Leu269Arg) | |
14 | g.94380982A>G | CA390848573 | SERPINA1 | c.806T>C (p.Leu269Pro) | |
14 | g.94380982A>T | CA390848575 | SERPINA1 | c.806T>A (p.Leu269Gln) | |
14 | g.94380983G>A | CA487841006 | SERPINA1 | c.805C>T (p.Leu269=) | ClinVar dbSNP |
14 | g.94380983G>C | CA390848577 | SERPINA1 | c.805C>G (p.Leu269Val) | |
14 | g.94380983G>T | CA390848579 | SERPINA1 | c.805C>A (p.Leu269Met) | |
14 | g.94380984G>A | CA487841007 | SERPINA1 | c.804C>T (p.Tyr268=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94380984G>C | CA390848580 | SERPINA1 | c.804C>G (p.Tyr268Ter) | |
14 | g.94380984G= | CA2155953890 | SERPINA1 | c.804C= (p.Tyr268=) | |
14 | g.94380984G>T | CA390848582 | SERPINA1 | c.804C>A (p.Tyr268Ter) | |
14 | g.94380985T>A | CA390848584 | SERPINA1 | c.803A>T (p.Tyr268Phe) | COSMIC |
14 | g.94380985T>C | CA390848585 | SERPINA1 | c.803A>G (p.Tyr268Cys) | |
14 | g.94380985T>G | CA390848583 | SERPINA1 | c.803A>C (p.Tyr268Ser) | |
14 | g.94380986A>C | CA390848586 | SERPINA1 | c.802T>G (p.Tyr268Asp) | |
14 | g.94380986A>G | CA390848587 | SERPINA1 | c.802T>C (p.Tyr268His) | |
14 | g.94380986A>T | CA390848588 | SERPINA1 | c.802T>A (p.Tyr268Asn) | |
14 | g.94380987T>A | CA390848590 | SERPINA1 | c.801A>T (p.Lys267Asn) | |
14 | g.94380987T>C | CA487841008 | SERPINA1 | c.801A>G (p.Lys267=) | gnomAD v4 |
14 | g.94380987T>G | CA390848591 | SERPINA1 | c.801A>C (p.Lys267Asn) | dbSNP |
14 | g.94380987T= | CA2155953891 | SERPINA1 | c.801A= (p.Lys267=) | |
14 | g.94380988T>A | CA390848593 | SERPINA1 | c.800A>T (p.Lys267Ile) | |
14 | g.94380988T>C | CA390848594 | SERPINA1 | c.800A>G (p.Lys267Arg) | COSMIC |
14 | g.94380988T>G | CA390848596 | SERPINA1 | c.800A>C (p.Lys267Thr) | |
14 | g.94380989T>A | CA390848597 | SERPINA1 | c.799A>T (p.Lys267Ter) | |
14 | g.94380989T>C | CA390848598 | SERPINA1 | c.799A>G (p.Lys267Glu) | |
14 | g.94380989T>G | CA390848599 | SERPINA1 | c.799A>C (p.Lys267Gln) | gnomAD v4 |
14 | g.94380990C>A | CA390848601 | SERPINA1 | c.798G>T (p.Met266Ile) | |
14 | g.94380990C>G | CA390848602 | SERPINA1 | c.798G>C (p.Met266Ile) | |
14 | g.94380990C>T | CA390848600 | SERPINA1 | c.798G>A (p.Met266Ile) | |
14 | g.94380991A= | CA2155953892 | SERPINA1 | c.797T= (p.Met266=) | |
14 | g.94380991A>C | CA390848604 | SERPINA1 | c.797T>G (p.Met266Arg) | |
14 | g.94380991A>G | CA7327403 | SERPINA1 | c.797T>C (p.Met266Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380991A>T | CA390848606 | SERPINA1 | c.797T>A (p.Met266Lys) | |
14 | g.94380992T>A | CA390848607 | SERPINA1 | c.796A>T (p.Met266Leu) | |
14 | g.94380992T>C | CA390848609 | SERPINA1 | c.796A>G (p.Met266Val) | |
14 | g.94380992T>G | CA390848611 | SERPINA1 | c.796A>C (p.Met266Leu) | |
14 | g.94380993C>A | CA487841011 | SERPINA1 | c.795G>T (p.Leu265=) | |
14 | g.94380993C= | CA2155953893 | SERPINA1 | c.795G= (p.Leu265=) | |
14 | g.94380993C>G | CA487841012 | SERPINA1 | c.795G>C (p.Leu265=) | |
14 | g.94380993C>T | CA7327404 | SERPINA1 | c.795G>A (p.Leu265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94380994A>C | CA390848613 | SERPINA1 | c.794T>G (p.Leu265Arg) | |
14 | g.94380994A>G | CA390848614 | SERPINA1 | c.794T>C (p.Leu265Pro) | |
14 | g.94380994A>T | CA390848616 | SERPINA1 | c.794T>A (p.Leu265Gln) | |
14 | g.94380995G>A | CA7327405 | SERPINA1 | c.793C>T (p.Leu265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380995G>C | CA390848618 | SERPINA1 | c.793C>G (p.Leu265Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94380995G= | CA2155953894 | SERPINA1 | c.793C= (p.Leu265=) | |
14 | g.94380995G>T | CA390848620 | SERPINA1 | c.793C>A (p.Leu265Met) | |
14 | g.94380996C>A | CA487841014 | SERPINA1 | c.792G>T (p.Leu264=) | |
14 | g.94380996C= | CA2155953895 | SERPINA1 | c.792G= (p.Leu264=) | |
14 | g.94380996C>G | CA487841015 | SERPINA1 | c.792G>C (p.Leu264=) | |
14 | g.94380996C>T | CA487841017 | SERPINA1 | c.792G>A (p.Leu264=) | ClinVar dbSNP gnomAD v2 |
14 | g.94380997A>C | CA390848625 | SERPINA1 | c.791T>G (p.Leu264Arg) | |
14 | g.94380997A>G | CA390848623 | SERPINA1 | c.791T>C (p.Leu264Pro) | |
14 | g.94380997A>T | CA390848622 | SERPINA1 | c.791T>A (p.Leu264Gln) | |
14 | g.94380998G>A | CA487841018 | SERPINA1 | c.790C>T (p.Leu264=) | |
14 | g.94380998G>C | CA390848627 | SERPINA1 | c.790C>G (p.Leu264Val) | |
14 | g.94380998G>T | CA390848629 | SERPINA1 | c.790C>A (p.Leu264Met) | |
14 | g.94380999C>A | CA487841019 | SERPINA1 | c.789G>T (p.Val263=) | |
14 | g.94380999C>G | CA487841020 | SERPINA1 | c.789G>C (p.Val263=) | |
14 | g.94380999C>T | CA487841021 | SERPINA1 | c.789G>A (p.Val263=) | |
14 | g.94381000A>C | CA390848630 | SERPINA1 | c.788T>G (p.Val263Gly) | |
14 | g.94381000A>G | CA390848632 | SERPINA1 | c.788T>C (p.Val263Ala) | |
14 | g.94381000A>T | CA390848634 | SERPINA1 | c.788T>A (p.Val263Glu) | |
14 | g.94381000_94381001delinsAC | CA2155953896 | SERPINA1 | c.787_788delinsGT (p.Val263=) | |
14 | g.94381001C>A | CA390848636 | SERPINA1 | c.787G>T (p.Val263Leu) | |
14 | g.94381001C>G | CA390848637 | SERPINA1 | c.787G>C (p.Val263Leu) | |
14 | g.94381001C>T | CA390848638 | SERPINA1 | c.787G>A (p.Val263Met) | |
14 | g.94381003del | CA616114856 | SERPINA1 | c.787del (p.Val263CysfsTer3) | ClinVar dbSNP gnomAD v2 |
14 | g.94381002C>A | CA390848640 | SERPINA1 | c.786G>T (p.Trp262Cys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94381002C= | CA2155953897 | SERPINA1 | c.786G= (p.Trp262=) | |
14 | g.94381002C>G | CA390848642 | SERPINA1 | c.786G>C (p.Trp262Cys) | |
14 | g.94381002C>T | CA390848644 | SERPINA1 | c.786G>A (p.Trp262Ter) | |
14 | g.94381003C>A | CA390848645 | SERPINA1 | c.785G>T (p.Trp262Leu) | gnomAD v4 |
14 | g.94381003C>G | CA390848647 | SERPINA1 | c.785G>C (p.Trp262Ser) | |
14 | g.94381003C>T | CA390848648 | SERPINA1 | c.785G>A (p.Trp262Ter) | |
14 | g.94381004A>C | CA390848653 | SERPINA1 | c.784T>G (p.Trp262Gly) | |
14 | g.94381004A>G | CA390848650 | SERPINA1 | c.784T>C (p.Trp262Arg) | |
14 | g.94381004A>T | CA390848651 | SERPINA1 | c.784T>A (p.Trp262Arg) | |
14 | g.94381005G>A | CA487841025 | SERPINA1 | c.783C>T (p.Ser261=) | |
14 | g.94381005G>C | CA390848655 | SERPINA1 | c.783C>G (p.Ser261Arg) | |
14 | g.94381005G>T | CA390848657 | SERPINA1 | c.783C>A (p.Ser261Arg) | |
14 | g.94381006C>A | CA7327406 | SERPINA1 | c.782G>T (p.Ser261Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94381006C= | CA2155953898 | SERPINA1 | c.782G= (p.Ser261=) | |
14 | g.94381006C>G | CA390848658 | SERPINA1 | c.782G>C (p.Ser261Thr) | gnomAD v4 |
14 | g.94381006C>T | CA390848660 | SERPINA1 | c.782G>A (p.Ser261Asn) | |
14 | g.94381007T>A | CA390848662 | SERPINA1 | c.781A>T (p.Ser261Cys) | |
14 | g.94381007T>C | CA390848663 | SERPINA1 | c.781A>G (p.Ser261Gly) | |
14 | g.94381007T>G | CA390848665 | SERPINA1 | c.781A>C (p.Ser261Arg) | gnomAD v4 |