Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94380886T>A | CA390848333 | SERPINA1 | c.902A>T (p.Glu301Val) | |
14 | g.94380886T>C | CA390848334 | SERPINA1 | c.902A>G (p.Glu301Gly) | |
14 | g.94380886T>G | CA390848335 | SERPINA1 | c.902A>C (p.Glu301Ala) | gnomAD v4 |
14 | g.94380887C>A | CA390848336 | SERPINA1 | c.901G>T (p.Glu301Ter) | |
14 | g.94380887C>G | CA390848337 | SERPINA1 | c.901G>C (p.Glu301Gln) | |
14 | g.94380887C>T | CA390848338 | SERPINA1 | c.901G>A (p.Glu301Lys) | COSMIC |
14 | g.94380888C>A | CA487840920 | SERPINA1 | c.900G>T (p.Leu300=) | |
14 | g.94380888C= | CA2155953842 | SERPINA1 | c.900G= (p.Leu300=) | |
14 | g.94380888C>G | CA487840919 | SERPINA1 | c.900G>C (p.Leu300=) | |
14 | g.94380888C>T | CA7327380 | SERPINA1 | c.900G>A (p.Leu300=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380889A= | CA2155953843 | SERPINA1 | c.899T= (p.Leu300=) | |
14 | g.94380889A>C | CA7327381 | SERPINA1 | c.899T>G (p.Leu300Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380889A>G | CA7327382 | SERPINA1 | c.899T>C (p.Leu300Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380889A>T | CA390848339 | SERPINA1 | c.899T>A (p.Leu300Gln) | |
14 | g.94380890G>A | CA487840922 | SERPINA1 | c.898C>T (p.Leu300=) | gnomAD v4 |
14 | g.94380890G>C | CA390848340 | SERPINA1 | c.898C>G (p.Leu300Val) | |
14 | g.94380890G>T | CA390848341 | SERPINA1 | c.898C>A (p.Leu300Met) | |
14 | g.94380891G>A | CA487840925 | SERPINA1 | c.897C>T (p.Phe299=) | ClinVar |
14 | g.94380891G>C | CA390848342 | SERPINA1 | c.897C>G (p.Phe299Leu) | |
14 | g.94380891G>T | CA390848343 | SERPINA1 | c.897C>A (p.Phe299Leu) | |
14 | g.94380892A>C | CA390848344 | SERPINA1 | c.896T>G (p.Phe299Cys) | |
14 | g.94380892A>G | CA390848345 | SERPINA1 | c.896T>C (p.Phe299Ser) | |
14 | g.94380892A>T | CA390848346 | SERPINA1 | c.896T>A (p.Phe299Tyr) | |
14 | g.94380893A= | CA2155953844 | SERPINA1 | c.895T= (p.Phe299=) | |
14 | g.94380893A>C | CA390848347 | SERPINA1 | c.895T>G (p.Phe299Val) | COSMIC |
14 | g.94380893A>G | CA7327383 | SERPINA1 | c.895T>C (p.Phe299Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.94380893A>T | CA390848348 | SERPINA1 | c.895T>A (p.Phe299Ile) | |
14 | g.94380894C>A | CA265863745 | SERPINA1 | c.894G>T (p.Lys298Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94380894C= | CA2155953845 | SERPINA1 | c.894G= (p.Lys298=) | |
14 | g.94380894C>G | CA390848349 | SERPINA1 | c.894G>C (p.Lys298Asn) | gnomAD v4 COSMIC |
14 | g.94380894C>T | CA487840927 | SERPINA1 | c.894G>A (p.Lys298=) | gnomAD v4 |
14 | g.94380895T>A | CA390848350 | SERPINA1 | c.893A>T (p.Lys298Met) | |
14 | g.94380895T>C | CA390848351 | SERPINA1 | c.893A>G (p.Lys298Arg) | gnomAD v4 |
14 | g.94380895T>G | CA390848352 | SERPINA1 | c.893A>C (p.Lys298Thr) | |
14 | g.94380896T>A | CA390848355 | SERPINA1 | c.892A>T (p.Lys298Ter) | |
14 | g.94380896T>C | CA390848354 | SERPINA1 | c.892A>G (p.Lys298Glu) | |
14 | g.94380896T>G | CA390848353 | SERPINA1 | c.892A>C (p.Lys298Gln) | |
14 | g.94380897G>A | CA487840928 | SERPINA1 | c.891C>T (p.Thr297=) | dbSNP gnomAD v4 |
14 | g.94380897G>C | CA487840929 | SERPINA1 | c.891C>G (p.Thr297=) | ClinVar |
14 | g.94380897G= | CA2155953846 | SERPINA1 | c.891C= (p.Thr297=) | |
14 | g.94380897G>T | CA487840930 | SERPINA1 | c.891C>A (p.Thr297=) | |
14 | g.94380898G>A | CA265863747 | SERPINA1 | c.890C>T (p.Thr297Ile) | dbSNP |
14 | g.94380898G>C | CA390848356 | SERPINA1 | c.890C>G (p.Thr297Ser) | |
14 | g.94380898G= | CA2155953848 | SERPINA1 | c.890C= (p.Thr297=) | |
14 | g.94380898G>T | CA7327384 | SERPINA1 | c.890C>A (p.Thr297Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94380898_94380901delinsGTGA | CA2155953847 | SERPINA1 | c.887_890delinsTCAC (p.Ile296=) | |
14 | g.94380899T>A | CA390848357 | SERPINA1 | c.889A>T (p.Thr297Ser) | |
14 | g.94380899T>C | CA390848358 | SERPINA1 | c.889A>G (p.Thr297Ala) | |
14 | g.94380899T>G | CA390848359 | SERPINA1 | c.889A>C (p.Thr297Pro) | |
14 | g.94380903_94380905del | CA616114846 | SERPINA1 | c.887_889del (p.Ile296del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |