Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382837A= | CA2155954800 | SERPINA1 | c.401T= (p.Leu134=) c.143T= (p.Leu48=) | |
14 | g.94382837A>C | CA390850036 | SERPINA1 | c.401T>G (p.Leu134Arg) c.143T>G (p.Leu48Arg) | |
14 | g.94382837A>G | CA7327505 | SERPINA1 | c.401T>C (p.Leu134Pro) c.143T>C (p.Leu48Pro) | dbSNP ExAC |
14 | g.94382837A>T | CA390850035 | SERPINA1 | c.401T>A (p.Leu134His) c.143T>A (p.Leu48His) | |
14 | g.94382838G>A | CA390850037 | SERPINA1 | c.400C>T (p.Leu134Phe) c.142C>T (p.Leu48Phe) | |
14 | g.94382838G>C | CA390850040 | SERPINA1 | c.400C>G (p.Leu134Val) c.142C>G (p.Leu48Val) | |
14 | g.94382838G= | CA2155954802 | SERPINA1 | c.400C= (p.Leu134=) c.142C= (p.Leu48=) | |
14 | g.94382838G>T | CA390850039 | SERPINA1 | c.400C>A (p.Leu134Ile) c.142C>A (p.Leu48Ile) | dbSNP |
14 | g.94382838_94382839delinsGC | CA2155954801 | SERPINA1 | c.399_400delinsGC (p.Gln133=) c.141_142delinsGC (p.Gln47=) | |
14 | g.94382839del | CA616114864 | SERPINA1 | c.399del (p.Gln133HisfsTer4) c.141del (p.Gln47HisfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382839C>A | CA390850042 | SERPINA1 | c.399G>T (p.Gln133His) c.141G>T (p.Gln47His) | |
14 | g.94382839C= | CA2155954803 | SERPINA1 | c.399G= (p.Gln133=) c.141G= (p.Gln47=) | |
14 | g.94382839C>G | CA390850044 | SERPINA1 | c.399G>C (p.Gln133His) c.141G>C (p.Gln47His) | |
14 | g.94382839C>T | CA487841105 | SERPINA1 | c.399G>A (p.Gln133=) c.141G>A (p.Gln47=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382840T>A | CA390850045 | SERPINA1 | c.398A>T (p.Gln133Leu) c.140A>T (p.Gln47Leu) | |
14 | g.94382840T>C | CA390850047 | SERPINA1 | c.398A>G (p.Gln133Arg) c.140A>G (p.Gln47Arg) | |
14 | g.94382840T>G | CA390850048 | SERPINA1 | c.398A>C (p.Gln133Pro) c.140A>C (p.Gln47Pro) | |
14 | g.94382841G>A | CA390850050 | SERPINA1 | c.397C>T (p.Gln133Ter) c.139C>T (p.Gln47Ter) | |
14 | g.94382841G>C | CA390850052 | SERPINA1 | c.397C>G (p.Gln133Glu) c.139C>G (p.Gln47Glu) | |
14 | g.94382841G>T | CA390850053 | SERPINA1 | c.397C>A (p.Gln133Lys) c.139C>A (p.Gln47Lys) | |
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) |