| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382615A>C | CA390849323 | SERPINA1 | c.623T>G (p.Leu208Arg) | |
| 14 | g.94382615A>G | CA390849325 | SERPINA1 | c.623T>C (p.Leu208Pro) | |
| 14 | g.94382615A>T | CA390849326 | SERPINA1 | c.623T>A (p.Leu208Gln) | |
| 14 | g.94382616G>A | CA487621871 | SERPINA1 | c.622C>T (p.Leu208=) | |
| 14 | g.94382616G>C | CA390849328 | SERPINA1 | c.622C>G (p.Leu208Val) | |
| 14 | g.94382616G>T | CA390849330 | SERPINA1 | c.622C>A (p.Leu208Met) | |
| 14 | g.94382617A>C | CA487621873 | SERPINA1 | c.621T>G (p.Ala207=) | |
| 14 | g.94382617A>G | CA487621874 | SERPINA1 | c.621T>C (p.Ala207=) | |
| 14 | g.94382617A>T | CA487621872 | SERPINA1 | c.621T>A (p.Ala207=) | |
| 14 | g.94382618G>A | CA390849332 | SERPINA1 | c.620C>T (p.Ala207Val) | |
| 14 | g.94382618G>C | CA390849333 | SERPINA1 | c.620C>G (p.Ala207Gly) | |
| 14 | g.94382618G>T | CA390849335 | SERPINA1 | c.620C>A (p.Ala207Asp) | |
| 14 | g.94382619C>A | CA390849337 | SERPINA1 | c.619G>T (p.Ala207Ser) | COSMIC |
| 14 | g.94382619C>G | CA390849339 | SERPINA1 | c.619G>C (p.Ala207Pro) | |
| 14 | g.94382619C>T | CA390849340 | SERPINA1 | c.619G>A (p.Ala207Thr) | |
| 14 | g.94382620A>C | CA390849341 | SERPINA1 | c.618T>G (p.Phe206Leu) | |
| 14 | g.94382620A>G | CA487621878 | SERPINA1 | c.618T>C (p.Phe206=) | |
| 14 | g.94382620A>T | CA390849342 | SERPINA1 | c.618T>A (p.Phe206Leu) | |
| 14 | g.94382621A= | CA2155954705 | SERPINA1 | c.617T= (p.Phe206=) | |
| 14 | g.94382621A>C | CA390849344 | SERPINA1 | c.617T>G (p.Phe206Cys) | |
| 14 | g.94382621A>G | CA390849346 | SERPINA1 | c.617T>C (p.Phe206Ser) | |
| 14 | g.94382621A>T | CA390849348 | SERPINA1 | c.617T>A (p.Phe206Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382622A= | CA2155954706 | SERPINA1 | c.616T= (p.Phe206=) | |
| 14 | g.94382622A>C | CA390849349 | SERPINA1 | c.616T>G (p.Phe206Val) | |
| 14 | g.94382622A>G | CA265864096 | SERPINA1 | c.616T>C (p.Phe206Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382622A>T | CA390849351 | SERPINA1 | c.616T>A (p.Phe206Ile) | |
| 14 | g.94382623A>C | CA487621889 | SERPINA1 | c.615T>G (p.Val205=) | |
| 14 | g.94382623A>G | CA487621887 | SERPINA1 | c.615T>C (p.Val205=) | |
| 14 | g.94382623A>T | CA487621888 | SERPINA1 | c.615T>A (p.Val205=) | |
| 14 | g.94382624A= | CA2155954707 | SERPINA1 | c.614T= (p.Val205=) | |
| 14 | g.94382624A>C | CA390849353 | SERPINA1 | c.614T>G (p.Val205Gly) | |
| 14 | g.94382624A>G | CA390849355 | SERPINA1 | c.614T>C (p.Val205Ala) | dbSNP |
| 14 | g.94382624A>T | CA390849356 | SERPINA1 | c.614T>A (p.Val205Asp) | |
| 14 | g.94382625C>A | CA390849357 | SERPINA1 | c.613G>T (p.Val205Phe) | |
| 14 | g.94382625C= | CA2155954708 | SERPINA1 | c.613G= (p.Val205=) | |
| 14 | g.94382625C>G | CA390849358 | SERPINA1 | c.613G>C (p.Val205Leu) | |
| 14 | g.94382625C>T | CA7327461 | SERPINA1 | c.613G>A (p.Val205Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.94382625_94382626del | CA2695219659 | SERPINA1 | c.612_613del (p.Val205PhefsTer10) | |
| 14 | g.94382625_94382627delinsCTG | CA2155954709 | SERPINA1 | c.611_613delinsCAG (p.Thr204=) | |
| 14 | g.94382626T>A | CA487621892 | SERPINA1 | c.612A>T (p.Thr204=) | |
| 14 | g.94382626T>C | CA487621893 | SERPINA1 | c.612A>G (p.Thr204=) | |
| 14 | g.94382626T>G | CA487621894 | SERPINA1 | c.612A>C (p.Thr204=) | |
| 14 | g.94382626dup | CA645582237 | SERPINA1 | c.612dup (p.Val205SerfsTer11) | COSMIC |
| 14 | g.94382629_94382630del | CA265864097 | SERPINA1 | c.611_612del (p.Thr204SerfsTer11) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382626_94382627insA | CA487621895 | SERPINA1 | c.611_612insT (p.Val205SerfsTer11) | |
| 14 | g.94382627G>A | CA390849361 | SERPINA1 | c.611C>T (p.Thr204Ile) | |
| 14 | g.94382627G>C | CA390849360 | SERPINA1 | c.611C>G (p.Thr204Arg) | |
| 14 | g.94382627G>T | CA390849359 | SERPINA1 | c.611C>A (p.Thr204Lys) | |
| 14 | g.94382628T>A | CA390849362 | SERPINA1 | c.610A>T (p.Thr204Ser) | |
| 14 | g.94382628T>C | CA390849364 | SERPINA1 | c.610A>G (p.Thr204Ala) |