Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
14 | g.94382831A>C | CA390850015 | SERPINA1 | c.407T>G (p.Leu136Arg) c.149T>G (p.Leu50Arg) | dbSNP |
14 | g.94382831A>G | CA390850016 | SERPINA1 | c.407T>C (p.Leu136Pro) c.149T>C (p.Leu50Pro) | gnomAD v4 |
14 | g.94382831A>T | CA390850017 | SERPINA1 | c.407T>A (p.Leu136Gln) c.149T>A (p.Leu50Gln) | |
14 | g.94382832G>A | CA487841095 | SERPINA1 | c.406C>T (p.Leu136=) c.148C>T (p.Leu50=) | |
14 | g.94382832G>C | CA390850018 | SERPINA1 | c.406C>G (p.Leu136Val) c.148C>G (p.Leu50Val) | |
14 | g.94382832G>T | CA390850019 | SERPINA1 | c.406C>A (p.Leu136Met) c.148C>A (p.Leu50Met) | |
14 | g.94382833C>A | CA390850020 | SERPINA1 | c.405G>T (p.Gln135His) c.147G>T (p.Gln49His) | dbSNP |
14 | g.94382833C= | CA2155954798 | SERPINA1 | c.405G= (p.Gln135=) c.147G= (p.Gln49=) | |
14 | g.94382833C>G | CA390850022 | SERPINA1 | c.405G>C (p.Gln135His) c.147G>C (p.Gln49His) | |
14 | g.94382833C>T | CA487841096 | SERPINA1 | c.405G>A (p.Gln135=) c.147G>A (p.Gln49=) | |
14 | g.94382834T>A | CA390850024 | SERPINA1 | c.404A>T (p.Gln135Leu) c.146A>T (p.Gln49Leu) | |
14 | g.94382834T>C | CA390850026 | SERPINA1 | c.404A>G (p.Gln135Arg) c.146A>G (p.Gln49Arg) | |
14 | g.94382834T>G | CA390850027 | SERPINA1 | c.404A>C (p.Gln135Pro) c.146A>C (p.Gln49Pro) | |
14 | g.94382835G>A | CA390850029 | SERPINA1 | c.403C>T (p.Gln135Ter) c.145C>T (p.Gln49Ter) | ClinVar |
14 | g.94382835G>C | CA390850031 | SERPINA1 | c.403C>G (p.Gln135Glu) c.145C>G (p.Gln49Glu) | |
14 | g.94382835G>T | CA390850033 | SERPINA1 | c.403C>A (p.Gln135Lys) c.145C>A (p.Gln49Lys) | |
14 | g.94382836G>A | CA487841099 | SERPINA1 | c.402C>T (p.Leu134=) c.144C>T (p.Leu48=) | |
14 | g.94382836G>C | CA487841100 | SERPINA1 | c.402C>G (p.Leu134=) c.144C>G (p.Leu48=) | dbSNP gnomAD v4 |
14 | g.94382836G= | CA2155954799 | SERPINA1 | c.402C= (p.Leu134=) c.144C= (p.Leu48=) | |
14 | g.94382836G>T | CA487841101 | SERPINA1 | c.402C>A (p.Leu134=) c.144C>A (p.Leu48=) | dbSNP gnomAD v3 gnomAD v4 |
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=) |