Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
14 | g.94382825G>A | CA390849998 | SERPINA1 | c.413C>T (p.Thr138Ile) c.155C>T (p.Thr52Ile) | |
14 | g.94382825G>C | CA390850000 | SERPINA1 | c.413C>G (p.Thr138Ser) c.155C>G (p.Thr52Ser) | |
14 | g.94382825G>T | CA390850001 | SERPINA1 | c.413C>A (p.Thr138Asn) c.155C>A (p.Thr52Asn) | |
14 | g.94382826T>A | CA390850003 | SERPINA1 | c.412A>T (p.Thr138Ser) c.154A>T (p.Thr52Ser) | |
14 | g.94382826T>C | CA390850005 | SERPINA1 | c.412A>G (p.Thr138Ala) c.154A>G (p.Thr52Ala) | |
14 | g.94382826T>G | CA390850006 | SERPINA1 | c.412A>C (p.Thr138Pro) c.154A>C (p.Thr52Pro) | |
14 | g.94382827G>A | CA487841085 | SERPINA1 | c.411C>T (p.Thr137=) c.153C>T (p.Thr51=) | |
14 | g.94382827G>C | CA487841086 | SERPINA1 | c.411C>G (p.Thr137=) c.153C>G (p.Thr51=) | ClinVar dbSNP gnomAD v4 |
14 | g.94382827G= | CA2155954795 | SERPINA1 | c.411C= (p.Thr137=) c.153C= (p.Thr51=) | |
14 | g.94382827G>T | CA487841087 | SERPINA1 | c.411C>A (p.Thr137=) c.153C>A (p.Thr51=) | gnomAD v4 |
14 | g.94382828G>A | CA390850008 | SERPINA1 | c.410C>T (p.Thr137Ile) c.152C>T (p.Thr51Ile) | |
14 | g.94382828G>C | CA7327504 | SERPINA1 | c.410C>G (p.Thr137Ser) c.152C>G (p.Thr51Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382828G= | CA2155954796 | SERPINA1 | c.410C= (p.Thr137=) c.152C= (p.Thr51=) | |
14 | g.94382828G>T | CA390850010 | SERPINA1 | c.410C>A (p.Thr137Asn) c.152C>A (p.Thr51Asn) | |
14 | g.94382829T>A | CA390850014 | SERPINA1 | c.409A>T (p.Thr137Ser) c.151A>T (p.Thr51Ser) | |
14 | g.94382829T>C | CA390850012 | SERPINA1 | c.409A>G (p.Thr137Ala) c.151A>G (p.Thr51Ala) | |
14 | g.94382829T>G | CA390850013 | SERPINA1 | c.409A>C (p.Thr137Pro) c.151A>C (p.Thr51Pro) | |
14 | g.94382830C>A | CA487841089 | SERPINA1 | c.408G>T (p.Leu136=) c.150G>T (p.Leu50=) | |
14 | g.94382830C>G | CA487841093 | SERPINA1 | c.408G>C (p.Leu136=) c.150G>C (p.Leu50=) | |
14 | g.94382830C>T | CA487841091 | SERPINA1 | c.408G>A (p.Leu136=) c.150G>A (p.Leu50=) | |
14 | g.94382831A= | CA2155954797 | SERPINA1 | c.407T= (p.Leu136=) c.149T= (p.Leu50=) |