Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
14 | g.94382628T>G | CA390849363 | SERPINA1 | c.610A>C (p.Thr204Pro) | |
14 | g.94382629G>A | CA487621900 | SERPINA1 | c.609C>T (p.Asp203=) | |
14 | g.94382629G>C | CA265864099 | SERPINA1 | c.609C>G (p.Asp203Glu) | dbSNP COSMIC |
14 | g.94382629G= | CA2155954710 | SERPINA1 | c.609C= (p.Asp203=) | |
14 | g.94382629G>T | CA390849365 | SERPINA1 | c.609C>A (p.Asp203Glu) | |
14 | g.94382630T>A | CA390849366 | SERPINA1 | c.608A>T (p.Asp203Val) | |
14 | g.94382630T>C | CA390849368 | SERPINA1 | c.608A>G (p.Asp203Gly) | gnomAD v4 |
14 | g.94382630T>G | CA390849367 | SERPINA1 | c.608A>C (p.Asp203Ala) | |
14 | g.94382633_94382634del | CA2580612789 | SERPINA1 | c.607_608del (p.Asp203HisfsTer12) | dbSNP |
14 | g.94382631C>A | CA390849369 | SERPINA1 | c.607G>T (p.Asp203Tyr) | |
14 | g.94382631C>G | CA390849370 | SERPINA1 | c.607G>C (p.Asp203His) | |
14 | g.94382631C>T | CA390849371 | SERPINA1 | c.607G>A (p.Asp203Asn) | |
14 | g.94382632T>A | CA390849372 | SERPINA1 | c.606A>T (p.Arg202Ser) | |
14 | g.94382632T>C | CA487621909 | SERPINA1 | c.606A>G (p.Arg202=) | |
14 | g.94382632T>G | CA390849373 | SERPINA1 | c.606A>C (p.Arg202Ser) | |
14 | g.94382633C>A | CA390849374 | SERPINA1 | c.605G>T (p.Arg202Ile) | |
14 | g.94382633C= | CA2155954711 | SERPINA1 | c.605G= (p.Arg202=) | |
14 | g.94382633C>G | CA390849375 | SERPINA1 | c.605G>C (p.Arg202Thr) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382633C>T | CA7327462 | SERPINA1 | c.605G>A (p.Arg202Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382634T>A | CA390849376 | SERPINA1 | c.604A>T (p.Arg202Ter) | |
14 | g.94382634T>C | CA390849377 | SERPINA1 | c.604A>G (p.Arg202Gly) | |
14 | g.94382634T>G | CA487621915 | SERPINA1 | c.604A>C (p.Arg202=) | |
14 | g.94382635G>A | CA487621916 | SERPINA1 | c.603C>T (p.Asp201=) | |
14 | g.94382635G>C | CA390849378 | SERPINA1 | c.603C>G (p.Asp201Glu) | dbSNP |
14 | g.94382635G= | CA2155954712 | SERPINA1 | c.603C= (p.Asp201=) | |
14 | g.94382635G>T | CA390849379 | SERPINA1 | c.603C>A (p.Asp201Glu) | gnomAD v4 |
14 | g.94382636T>A | CA390849380 | SERPINA1 | c.602A>T (p.Asp201Val) | |
14 | g.94382636T>C | CA390849382 | SERPINA1 | c.602A>G (p.Asp201Gly) | dbSNP |
14 | g.94382636T>G | CA390849381 | SERPINA1 | c.602A>C (p.Asp201Ala) | |
14 | g.94382636T= | CA2155954713 | SERPINA1 | c.602A= (p.Asp201=) | |
14 | g.94382636_94382637insGTCTCTCT | CA2695219660 | SERPINA1 | c.602_603insGAGAGACA (p.Asp201GlufsTer12) | |
14 | g.94382637C>A | CA390849383 | SERPINA1 | c.601G>T (p.Asp201Tyr) | COSMIC |
14 | g.94382637C= | CA2155954714 | SERPINA1 | c.601G= (p.Asp201=) | |
14 | g.94382637C>G | CA390849384 | SERPINA1 | c.601G>C (p.Asp201His) | |
14 | g.94382637C>T | CA265864101 | SERPINA1 | c.601G>A (p.Asp201Asn) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382638A= | CA2155954715 | SERPINA1 | c.600T= (p.Leu200=) | |
14 | g.94382638A>C | CA487621928 | SERPINA1 | c.600T>G (p.Leu200=) |