Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94383044A= | CA2155954906 | SERPINA1 | c.194T= (p.Leu65=) c.-23-42T= (n.-23-42T=) | |
14 | g.94383044A>C | CA390850589 | SERPINA1 | c.194T>G (p.Leu65Arg) c.-23-42T>G (n.-23-42T>G) | |
14 | g.94383044A>G | CA127686 | SERPINA1 | c.194T>C (p.Leu65Pro) c.-23-42T>C (n.-23-42T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94383044A>T | CA390850588 | SERPINA1 | c.194T>A (p.Leu65Gln) c.-23-42T>A (n.-23-42T>A) | |
14 | g.94383045G>A | CA487841206 | SERPINA1 | c.193C>T (p.Leu65=) c.-23-43C>T (n.-23-43C>T) | |
14 | g.94383045G>C | CA390850590 | SERPINA1 | c.193C>G (p.Leu65Val) c.-23-43C>G (n.-23-43C>G) | |
14 | g.94383045G>T | CA390850591 | SERPINA1 | c.193C>A (p.Leu65Met) c.-23-43C>A (n.-23-43C>A) | |
14 | g.94383046C>A | CA390850592 | SERPINA1 | c.192G>T (p.Gln64His) c.-23-44G>T (n.-23-44G>T) | |
14 | g.94383046C>G | CA390850593 | SERPINA1 | c.192G>C (p.Gln64His) c.-23-44G>C (n.-23-44G>C) | |
14 | g.94383046C>T | CA487841209 | SERPINA1 | c.192G>A (p.Gln64=) c.-23-44G>A (n.-23-44G>A) | |
14 | g.94383047del | CA1139770999 | SERPINA1 | c.191del (p.Gln64ArgfsTer16) c.-23-45del (n.-23-45del) | |
14 | g.94383047T>A | CA390850594 | SERPINA1 | c.191A>T (p.Gln64Leu) c.-23-45A>T (n.-23-45A>T) | |
14 | g.94383047T>C | CA7327529 | SERPINA1 | c.191A>G (p.Gln64Arg) c.-23-45A>G (n.-23-45A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94383047T>G | CA390850595 | SERPINA1 | c.191A>C (p.Gln64Pro) c.-23-45A>C (n.-23-45A>C) | |
14 | g.94383047T= | CA2155954907 | SERPINA1 | c.191A= (p.Gln64=) c.-23-45A= (n.-23-45A=) | |
14 | g.94383048G>A | CA390850596 | SERPINA1 | c.190C>T (p.Gln64Ter) c.-23-46C>T (n.-23-46C>T) | |
14 | g.94383048G>C | CA390850597 | SERPINA1 | c.190C>G (p.Gln64Glu) c.-23-46C>G (n.-23-46C>G) | |
14 | g.94383048G= | CA2155954908 | SERPINA1 | c.190C= (p.Gln64=) c.-23-46C= (n.-23-46C=) | |
14 | g.94383048G>T | CA390850598 | SERPINA1 | c.190C>A (p.Gln64Lys) c.-23-46C>A (n.-23-46C>A) | dbSNP gnomAD v4 |
14 | g.94383049G>A | CA487841210 | SERPINA1 | c.189C>T (p.Arg63=) c.-23-47C>T (n.-23-47C>T) | ClinVar dbSNP gnomAD v4 |
14 | g.94383049G>C | CA487841212 | SERPINA1 | c.189C>G (p.Arg63=) c.-23-47C>G (n.-23-47C>G) | |
14 | g.94383049G= | CA2155954909 | SERPINA1 | c.189C= (p.Arg63=) c.-23-47C= (n.-23-47C=) | |
14 | g.94383049G>T | CA487841214 | SERPINA1 | c.189C>A (p.Arg63=) c.-23-47C>A (n.-23-47C>A) | |
14 | g.94383050C>A | CA348069 | SERPINA1 | c.188G>T (p.Arg63Leu) c.-23-48G>T (n.-23-48G>T) | ClinVar dbSNP gnomAD v4 |
14 | g.94383050C= | CA2155954910 | SERPINA1 | c.188G= (p.Arg63=) c.-23-48G= (n.-23-48G=) | |
14 | g.94383050C>G | CA390850599 | SERPINA1 | c.188G>C (p.Arg63Pro) c.-23-48G>C (n.-23-48G>C) | |
14 | g.94383050C>T | CA7327530 | SERPINA1 | c.188G>A (p.Arg63His) c.-23-48G>A (n.-23-48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94383051G>A | CA325650 | SERPINA1 | c.187C>T (p.Arg63Cys) c.-23-49C>T (n.-23-49C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94383051G>C | CA390850601 | SERPINA1 | c.187C>G (p.Arg63Gly) c.-23-49C>G (n.-23-49C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94383051G= | CA2155954911 | SERPINA1 | c.187C= (p.Arg63=) c.-23-49C= (n.-23-49C=) | |
14 | g.94383051G>T | CA390850600 | SERPINA1 | c.187C>A (p.Arg63Ser) c.-23-49C>A (n.-23-49C>A) | |
14 | g.94383052G>A | CA487841217 | SERPINA1 | c.186C>T (p.Tyr62=) c.-23-50C>T (n.-23-50C>T) | |
14 | g.94383052G>C | CA390850602 | SERPINA1 | c.186C>G (p.Tyr62Ter) c.-23-50C>G (n.-23-50C>G) | |
14 | g.94383052G= | CA2155954912 | SERPINA1 | c.186C= (p.Tyr62=) c.-23-50C= (n.-23-50C=) | |
14 | g.94383052G>T | CA7327531 | SERPINA1 | c.186C>A (p.Tyr62Ter) c.-23-50C>A (n.-23-50C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94383053T>A | CA390850604 | SERPINA1 | c.185A>T (p.Tyr62Phe) c.-23-51A>T (n.-23-51A>T) | |
14 | g.94383053T>C | CA390850603 | SERPINA1 | c.185A>G (p.Tyr62Cys) c.-23-51A>G (n.-23-51A>G) | |
14 | g.94383053T>G | CA390850605 | SERPINA1 | c.185A>C (p.Tyr62Ser) c.-23-51A>C (n.-23-51A>C) | |
14 | g.94383054A>C | CA390850606 | SERPINA1 | c.184T>G (p.Tyr62Asp) c.-23-52T>G (n.-23-52T>G) | |
14 | g.94383054A>G | CA390850607 | SERPINA1 | c.184T>C (p.Tyr62His) c.-23-52T>C (n.-23-52T>C) | |
14 | g.94383054A>T | CA390850608 | SERPINA1 | c.184T>A (p.Tyr62Asn) c.-23-52T>A (n.-23-52T>A) | |
14 | g.94383055T>A | CA487841221 | SERPINA1 | c.183A>T (p.Leu61=) c.-23-53A>T (n.-23-53A>T) | |
14 | g.94383055T>C | CA487841222 | SERPINA1 | c.183A>G (p.Leu61=) c.-23-53A>G (n.-23-53A>G) | dbSNP |
14 | g.94383055T>G | CA487841223 | SERPINA1 | c.183A>C (p.Leu61=) c.-23-53A>C (n.-23-53A>C) | gnomAD v4 |
14 | g.94383055T= | CA2155954913 | SERPINA1 | c.183A= (p.Leu61=) c.-23-53A= (n.-23-53A=) | |
14 | g.94383056A>C | CA390850609 | SERPINA1 | c.182T>G (p.Leu61Arg) c.-23-54T>G (n.-23-54T>G) | |
14 | g.94383056A>G | CA390850610 | SERPINA1 | c.182T>C (p.Leu61Pro) c.-23-54T>C (n.-23-54T>C) | |
14 | g.94383056A>T | CA390850611 | SERPINA1 | c.182T>A (p.Leu61Gln) c.-23-54T>A (n.-23-54T>A) | |
14 | g.94383057G>A | CA487841224 | SERPINA1 | c.181C>T (p.Leu61=) c.-23-55C>T (n.-23-55C>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94383057G>C | CA390850612 | SERPINA1 | c.181C>G (p.Leu61Val) c.-23-55C>G (n.-23-55C>G) |