Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382811A>C | CA390849953 | SERPINA1 | c.427T>G (p.Phe143Val) c.169T>G (p.Phe57Val) | |
14 | g.94382811A>G | CA390849954 | SERPINA1 | c.427T>C (p.Phe143Leu) c.169T>C (p.Phe57Leu) | |
14 | g.94382811A>T | CA390849956 | SERPINA1 | c.427T>A (p.Phe143Ile) c.169T>A (p.Phe57Ile) | |
14 | g.94382812C>A | CA487841070 | SERPINA1 | c.426G>T (p.Leu142=) c.168G>T (p.Leu56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382812C= | CA2155954787 | SERPINA1 | c.426G= (p.Leu142=) c.168G= (p.Leu56=) | |
14 | g.94382812C>G | CA487841071 | SERPINA1 | c.426G>C (p.Leu142=) c.168G>C (p.Leu56=) | |
14 | g.94382812C>T | CA7327500 | SERPINA1 | c.426G>A (p.Leu142=) c.168G>A (p.Leu56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382813A>C | CA390849958 | SERPINA1 | c.425T>G (p.Leu142Arg) c.167T>G (p.Leu56Arg) | |
14 | g.94382813A>G | CA390849960 | SERPINA1 | c.425T>C (p.Leu142Pro) c.167T>C (p.Leu56Pro) | |
14 | g.94382813A>T | CA390849962 | SERPINA1 | c.425T>A (p.Leu142Gln) c.167T>A (p.Leu56Gln) | gnomAD v4 |
14 | g.94382814G>A | CA183072 | SERPINA1 | c.424C>T (p.Leu142=) c.166C>T (p.Leu56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382814G>C | CA390849964 | SERPINA1 | c.424C>G (p.Leu142Val) c.166C>G (p.Leu56Val) | |
14 | g.94382814G= | CA2155954788 | SERPINA1 | c.424C= (p.Leu142=) c.166C= (p.Leu56=) | |
14 | g.94382814G>T | CA390849965 | SERPINA1 | c.424C>A (p.Leu142Met) c.166C>A (p.Leu56Met) | |
14 | g.94382815G>A | CA7327501 | SERPINA1 | c.423C>T (p.Gly141=) c.165C>T (p.Gly55=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382815G>C | CA487841073 | SERPINA1 | c.423C>G (p.Gly141=) c.165C>G (p.Gly55=) | |
14 | g.94382815G= | CA2155954789 | SERPINA1 | c.423C= (p.Gly141=) c.165C= (p.Gly55=) | |
14 | g.94382815G>T | CA487841074 | SERPINA1 | c.423C>A (p.Gly141=) c.165C>A (p.Gly55=) | ClinVar |
14 | g.94382816C>A | CA390849970 | SERPINA1 | c.422G>T (p.Gly141Val) c.164G>T (p.Gly55Val) | gnomAD v4 |
14 | g.94382816C>G | CA390849969 | SERPINA1 | c.422G>C (p.Gly141Ala) c.164G>C (p.Gly55Ala) | |
14 | g.94382816C>T | CA390849968 | SERPINA1 | c.422G>A (p.Gly141Asp) c.164G>A (p.Gly55Asp) | |
14 | g.94382817C>A | CA390849972 | SERPINA1 | c.421G>T (p.Gly141Cys) c.163G>T (p.Gly55Cys) | |
14 | g.94382817C>G | CA390849973 | SERPINA1 | c.421G>C (p.Gly141Arg) c.163G>C (p.Gly55Arg) | |
14 | g.94382817C>T | CA390849975 | SERPINA1 | c.421G>A (p.Gly141Ser) c.163G>A (p.Gly55Ser) | |
14 | g.94382818A= | CA2155954790 | SERPINA1 | c.420T= (p.Asn140=) c.162T= (p.Asn54=) | |
14 | g.94382818A>C | CA390849977 | SERPINA1 | c.420T>G (p.Asn140Lys) c.162T>G (p.Asn54Lys) | |
14 | g.94382818A>G | CA265864136 | SERPINA1 | c.420T>C (p.Asn140=) c.162T>C (p.Asn54=) | dbSNP |
14 | g.94382818A>T | CA390849979 | SERPINA1 | c.420T>A (p.Asn140Lys) c.162T>A (p.Asn54Lys) | |
14 | g.94382819T>A | CA390849980 | SERPINA1 | c.419A>T (p.Asn140Ile) c.161A>T (p.Asn54Ile) | |
14 | g.94382819T>C | CA390849982 | SERPINA1 | c.419A>G (p.Asn140Ser) c.161A>G (p.Asn54Ser) | |
14 | g.94382819T>G | CA390849983 | SERPINA1 | c.419A>C (p.Asn140Thr) c.161A>C (p.Asn54Thr) | |
14 | g.94382820T>A | CA390849985 | SERPINA1 | c.418A>T (p.Asn140Tyr) c.160A>T (p.Asn54Tyr) | |
14 | g.94382820T>C | CA390849987 | SERPINA1 | c.418A>G (p.Asn140Asp) c.160A>G (p.Asn54Asp) | |
14 | g.94382820T>G | CA390849988 | SERPINA1 | c.418A>C (p.Asn140His) c.160A>C (p.Asn54His) | |
14 | g.94382821G>A | CA265864138 | SERPINA1 | c.417C>T (p.Gly139=) c.159C>T (p.Gly53=) | dbSNP |
14 | g.94382821G>C | CA487841075 | SERPINA1 | c.417C>G (p.Gly139=) c.159C>G (p.Gly53=) | |
14 | g.94382821G= | CA2155954791 | SERPINA1 | c.417C= (p.Gly139=) c.159C= (p.Gly53=) | |
14 | g.94382821G>T | CA487841077 | SERPINA1 | c.417C>A (p.Gly139=) c.159C>A (p.Gly53=) | |
14 | g.94382822C>A | CA390849992 | SERPINA1 | c.416G>T (p.Gly139Val) c.158G>T (p.Gly53Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382822C= | CA2155954792 | SERPINA1 | c.416G= (p.Gly139=) c.158G= (p.Gly53=) | |
14 | g.94382822C>G | CA7327502 | SERPINA1 | c.416G>C (p.Gly139Ala) c.158G>C (p.Gly53Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382822C>T | CA390849989 | SERPINA1 | c.416G>A (p.Gly139Asp) c.158G>A (p.Gly53Asp) | dbSNP gnomAD v4 |
14 | g.94382823C>A | CA390849993 | SERPINA1 | c.415G>T (p.Gly139Cys) c.157G>T (p.Gly53Cys) | ClinVar |
14 | g.94382823C= | CA2155954793 | SERPINA1 | c.415G= (p.Gly139=) c.157G= (p.Gly53=) | |
14 | g.94382823C>G | CA390849995 | SERPINA1 | c.415G>C (p.Gly139Arg) c.157G>C (p.Gly53Arg) | |
14 | g.94382823C>T | CA127734 | SERPINA1 | c.415G>A (p.Gly139Ser) c.157G>A (p.Gly53Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382824G>A | CA7327503 | SERPINA1 | c.414C>T (p.Thr138=) c.156C>T (p.Thr52=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94382824G>C | CA487841081 | SERPINA1 | c.414C>G (p.Thr138=) c.156C>G (p.Thr52=) | |
14 | g.94382824G= | CA2155954794 | SERPINA1 | c.414C= (p.Thr138=) c.156C= (p.Thr52=) | |
14 | g.94382824G>T | CA487841083 | SERPINA1 | c.414C>A (p.Thr138=) c.156C>A (p.Thr52=) |