Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382842G>A | CA487841108 | SERPINA1 | c.396C>T (p.Ser132=) c.138C>T (p.Ser46=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382842G>C | CA390850055 | SERPINA1 | c.396C>G (p.Ser132Arg) c.138C>G (p.Ser46Arg) | gnomAD v4 |
14 | g.94382842G= | CA2155954804 | SERPINA1 | c.396C= (p.Ser132=) c.138C= (p.Ser46=) | |
14 | g.94382842G>T | CA390850056 | SERPINA1 | c.396C>A (p.Ser132Arg) c.138C>A (p.Ser46Arg) | gnomAD v4 |
14 | g.94382843C>A | CA390850058 | SERPINA1 | c.395G>T (p.Ser132Ile) c.137G>T (p.Ser46Ile) | |
14 | g.94382843C= | CA2155954805 | SERPINA1 | c.395G= (p.Ser132=) c.137G= (p.Ser46=) | |
14 | g.94382843C>G | CA390850059 | SERPINA1 | c.395G>C (p.Ser132Thr) c.137G>C (p.Ser46Thr) | |
14 | g.94382843C>T | CA390850061 | SERPINA1 | c.395G>A (p.Ser132Asn) c.137G>A (p.Ser46Asn) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382844T>A | CA390850063 | SERPINA1 | c.394A>T (p.Ser132Cys) c.136A>T (p.Ser46Cys) | |
14 | g.94382844T>C | CA390850066 | SERPINA1 | c.394A>G (p.Ser132Gly) c.136A>G (p.Ser46Gly) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382844T>G | CA390850065 | SERPINA1 | c.394A>C (p.Ser132Arg) c.136A>C (p.Ser46Arg) | |
14 | g.94382844T= | CA2155954806 | SERPINA1 | c.394A= (p.Ser132=) c.136A= (p.Ser46=) | |
14 | g.94382845G>A | CA487841110 | SERPINA1 | c.393C>T (p.Asp131=) c.135C>T (p.Asp45=) | ClinVar dbSNP gnomAD v4 |
14 | g.94382845G>C | CA390850068 | SERPINA1 | c.393C>G (p.Asp131Glu) c.135C>G (p.Asp45Glu) | |
14 | g.94382845G>T | CA390850070 | SERPINA1 | c.393C>A (p.Asp131Glu) c.135C>A (p.Asp45Glu) | |
14 | g.94382846T>A | CA390850072 | SERPINA1 | c.392A>T (p.Asp131Val) c.134A>T (p.Asp45Val) | |
14 | g.94382846T>C | CA390850073 | SERPINA1 | c.392A>G (p.Asp131Gly) c.134A>G (p.Asp45Gly) | gnomAD v4 |
14 | g.94382846T>G | CA7327506 | SERPINA1 | c.392A>C (p.Asp131Ala) c.134A>C (p.Asp45Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382846T= | CA2155954807 | SERPINA1 | c.392A= (p.Asp131=) c.134A= (p.Asp45=) | |
14 | g.94382847C>A | CA390850075 | SERPINA1 | c.391G>T (p.Asp131Tyr) c.133G>T (p.Asp45Tyr) | |
14 | g.94382847C>G | CA390850077 | SERPINA1 | c.391G>C (p.Asp131His) c.133G>C (p.Asp45His) | |
14 | g.94382847C>T | CA390850079 | SERPINA1 | c.391G>A (p.Asp131Asn) c.133G>A (p.Asp45Asn) | |
14 | g.94382848T>A | CA487841112 | SERPINA1 | c.390A>T (p.Pro130=) c.132A>T (p.Pro44=) | |
14 | g.94382848T>C | CA487841113 | SERPINA1 | c.390A>G (p.Pro130=) c.132A>G (p.Pro44=) | |
14 | g.94382848T>G | CA487841114 | SERPINA1 | c.390A>C (p.Pro130=) c.132A>C (p.Pro44=) | |
14 | g.94382849G>A | CA390850080 | SERPINA1 | c.389C>T (p.Pro130Leu) c.131C>T (p.Pro44Leu) | COSMIC |
14 | g.94382849G>C | CA390850081 | SERPINA1 | c.389C>G (p.Pro130Arg) c.131C>G (p.Pro44Arg) | gnomAD v4 |
14 | g.94382849G>T | CA390850083 | SERPINA1 | c.389C>A (p.Pro130Gln) c.131C>A (p.Pro44Gln) | |
14 | g.94382850G>A | CA390850088 | SERPINA1 | c.388C>T (p.Pro130Ser) c.130C>T (p.Pro44Ser) | |
14 | g.94382850G>C | CA390850087 | SERPINA1 | c.388C>G (p.Pro130Ala) c.130C>G (p.Pro44Ala) | |
14 | g.94382850G>T | CA390850085 | SERPINA1 | c.388C>A (p.Pro130Thr) c.130C>A (p.Pro44Thr) | gnomAD v4 |
14 | g.94382851C>A | CA390850092 | SERPINA1 | c.387G>T (p.Gln129His) c.129G>T (p.Gln43His) | |
14 | g.94382851C= | CA2155954808 | SERPINA1 | c.387G= (p.Gln129=) c.129G= (p.Gln43=) | |
14 | g.94382851C>G | CA390850090 | SERPINA1 | c.387G>C (p.Gln129His) c.129G>C (p.Gln43His) | gnomAD v4 |
14 | g.94382851C>T | CA487841117 | SERPINA1 | c.387G>A (p.Gln129=) c.129G>A (p.Gln43=) | dbSNP gnomAD v2 |
14 | g.94382852T>A | CA390850093 | SERPINA1 | c.386A>T (p.Gln129Leu) c.128A>T (p.Gln43Leu) | |
14 | g.94382852T>C | CA390850095 | SERPINA1 | c.386A>G (p.Gln129Arg) c.128A>G (p.Gln43Arg) | dbSNP gnomAD v4 |
14 | g.94382852T>G | CA390850096 | SERPINA1 | c.386A>C (p.Gln129Pro) c.128A>C (p.Gln43Pro) | |
14 | g.94382852T= | CA2155954809 | SERPINA1 | c.386A= (p.Gln129=) c.128A= (p.Gln43=) | |
14 | g.94382853G>A | CA390850099 | SERPINA1 | c.385C>T (p.Gln129Ter) c.127C>T (p.Gln43Ter) | |
14 | g.94382853G>C | CA390850100 | SERPINA1 | c.385C>G (p.Gln129Glu) c.127C>G (p.Gln43Glu) | |
14 | g.94382853G= | CA2155954810 | SERPINA1 | c.385C= (p.Gln129=) c.127C= (p.Gln43=) | |
14 | g.94382853G>T | CA265864143 | SERPINA1 | c.385C>A (p.Gln129Lys) c.127C>A (p.Gln43Lys) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382854G>A | CA487841119 | SERPINA1 | c.384C>T (p.Asn128=) c.126C>T (p.Asn42=) | gnomAD v4 |
14 | g.94382854G>C | CA390850102 | SERPINA1 | c.384C>G (p.Asn128Lys) c.126C>G (p.Asn42Lys) | |
14 | g.94382854G>T | CA390850103 | SERPINA1 | c.384C>A (p.Asn128Lys) c.126C>A (p.Asn42Lys) | |
14 | g.94382855T>A | CA390850105 | SERPINA1 | c.383A>T (p.Asn128Ile) c.125A>T (p.Asn42Ile) | gnomAD v4 |
14 | g.94382855T>C | CA390850107 | SERPINA1 | c.383A>G (p.Asn128Ser) c.125A>G (p.Asn42Ser) | gnomAD v4 |
14 | g.94382855T>G | CA390850108 | SERPINA1 | c.383A>C (p.Asn128Thr) c.125A>C (p.Asn42Thr) | |
14 | g.94382856T>A | CA390850110 | SERPINA1 | c.382A>T (p.Asn128Tyr) c.124A>T (p.Asn42Tyr) |