Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382968del | CA2695219695 | SERPINA1 | c.273del (p.Thr92ProfsTer13) c.273del (p.Thr92ProfsTer?) c.15del (p.Thr6ProfsTer13) | |
14 | g.94382966C>A | CA390850423 | SERPINA1 | c.272G>T (p.Gly91Val) c.14G>T (p.Gly5Val) | |
14 | g.94382966C= | CA2155954866 | SERPINA1 | c.272G= (p.Gly91=) c.14G= (p.Gly5=) | |
14 | g.94382966C>G | CA390850424 | SERPINA1 | c.272G>C (p.Gly91Ala) c.14G>C (p.Gly5Ala) | |
14 | g.94382966C>T | CA127674 | SERPINA1 | c.272G>A (p.Gly91Glu) c.14G>A (p.Gly5Glu) | ClinVar dbSNP |
14 | g.94382967C>A | CA390850425 | SERPINA1 | c.271G>T (p.Gly91Trp) c.13G>T (p.Gly5Trp) | |
14 | g.94382967C>G | CA390850426 | SERPINA1 | c.271G>C (p.Gly91Arg) c.13G>C (p.Gly5Arg) | |
14 | g.94382967C>T | CA390850427 | SERPINA1 | c.271G>A (p.Gly91Arg) c.13G>A (p.Gly5Arg) | COSMIC |
14 | g.94382968C>A | CA487841380 | SERPINA1 | c.270G>T (p.Leu90=) c.12G>T (p.Leu4=) | |
14 | g.94382968C= | CA2155954867 | SERPINA1 | c.270G= (p.Leu90=) c.12G= (p.Leu4=) | |
14 | g.94382968C>G | CA487841382 | SERPINA1 | c.270G>C (p.Leu90=) c.12G>C (p.Leu4=) | |
14 | g.94382968C>T | CA487841383 | SERPINA1 | c.270G>A (p.Leu90=) c.12G>A (p.Leu4=) | dbSNP |
14 | g.94382969del | CA2626310023 | SERPINA1 | c.269del (p.Leu90ArgfsTer15) c.269del (p.Leu90ArgfsTer?) c.11del (p.Leu4ArgfsTer15) | gnomAD v4 |
14 | g.94382969A= | CA2155954868 | SERPINA1 | c.269T= (p.Leu90=) c.11T= (p.Leu4=) | |
14 | g.94382969A>C | CA7327520 | SERPINA1 | c.269T>G (p.Leu90Arg) c.11T>G (p.Leu4Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382969A>G | CA390850428 | SERPINA1 | c.269T>C (p.Leu90Pro) c.11T>C (p.Leu4Pro) | dbSNP |
14 | g.94382969A>T | CA390850429 | SERPINA1 | c.269T>A (p.Leu90Gln) c.11T>A (p.Leu4Gln) | |
14 | g.94382970G>A | CA487841385 | SERPINA1 | c.268C>T (p.Leu90=) c.10C>T (p.Leu4=) | |
14 | g.94382970G>C | CA390850431 | SERPINA1 | c.268C>G (p.Leu90Val) c.10C>G (p.Leu4Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382970G= | CA2155954869 | SERPINA1 | c.268C= (p.Leu90=) c.10C= (p.Leu4=) | |
14 | g.94382970G>T | CA390850430 | SERPINA1 | c.268C>A (p.Leu90Met) c.10C>A (p.Leu4Met) | COSMIC |
14 | g.94382971G>A | CA487841386 | SERPINA1 | c.267C>T (p.Ser89=) c.9C>T (p.Ser3=) | gnomAD v4 COSMIC |
14 | g.94382971G>C | CA487841387 | SERPINA1 | c.267C>G (p.Ser89=) c.9C>G (p.Ser3=) | |
14 | g.94382971G>T | CA487841388 | SERPINA1 | c.267C>A (p.Ser89=) c.9C>A (p.Ser3=) | |
14 | g.94382972G>A | CA390850432 | SERPINA1 | c.266C>T (p.Ser89Phe) c.8C>T (p.Ser3Phe) | gnomAD v4 COSMIC |
14 | g.94382972G>C | CA390850434 | SERPINA1 | c.266C>G (p.Ser89Cys) c.8C>G (p.Ser3Cys) | |
14 | g.94382972G>T | CA390850433 | SERPINA1 | c.266C>A (p.Ser89Tyr) c.8C>A (p.Ser3Tyr) | |
14 | g.94382973A>C | CA390850435 | SERPINA1 | c.265T>G (p.Ser89Ala) c.7T>G (p.Ser3Ala) | |
14 | g.94382973A>G | CA390850436 | SERPINA1 | c.265T>C (p.Ser89Pro) c.7T>C (p.Ser3Pro) | |
14 | g.94382973A>T | CA390850437 | SERPINA1 | c.265T>A (p.Ser89Thr) c.7T>A (p.Ser3Thr) | |
14 | g.94382974G>A | CA487841395 | SERPINA1 | c.264C>T (p.Leu88=) c.6C>T (p.Leu2=) | gnomAD v4 |
14 | g.94382974G>C | CA487841393 | SERPINA1 | c.264C>G (p.Leu88=) c.6C>G (p.Leu2=) | |
14 | g.94382974G>T | CA487841394 | SERPINA1 | c.264C>A (p.Leu88=) c.6C>A (p.Leu2=) | |
14 | g.94382975A>C | CA390850438 | SERPINA1 | c.263T>G (p.Leu88Arg) c.5T>G (p.Leu2Arg) | |
14 | g.94382975A>G | CA390850439 | SERPINA1 | c.263T>C (p.Leu88Pro) c.5T>C (p.Leu2Pro) | |
14 | g.94382975A>T | CA390850440 | SERPINA1 | c.263T>A (p.Leu88His) c.5T>A (p.Leu2His) | |
14 | g.94382976G>A | CA390850441 | SERPINA1 | c.262C>T (p.Leu88Phe) c.4C>T (p.Leu2Phe) | dbSNP gnomAD v4 |
14 | g.94382976G>C | CA390850442 | SERPINA1 | c.262C>G (p.Leu88Val) c.4C>G (p.Leu2Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382976G= | CA2155954870 | SERPINA1 | c.262C= (p.Leu88=) c.4C= (p.Leu2=) | |
14 | g.94382976G>T | CA390850443 | SERPINA1 | c.262C>A (p.Leu88Ile) c.4C>A (p.Leu2Ile) | |
14 | g.94382977C>A | CA390850444 | SERPINA1 | c.261G>T (p.Met87Ile) c.3G>T (p.Met1Ile) | |
14 | g.94382977C>G | CA390850445 | SERPINA1 | c.261G>C (p.Met87Ile) c.3G>C (p.Met1Ile) | |
14 | g.94382977C>T | CA390850446 | SERPINA1 | c.261G>A (p.Met87Ile) c.3G>A (p.Met1Ile) | |
14 | g.94382978A>C | CA390850449 | SERPINA1 | c.260T>G (p.Met87Arg) c.2T>G (p.Met1Arg) | |
14 | g.94382978A>G | CA390850447 | SERPINA1 | c.260T>C (p.Met87Thr) c.2T>C (p.Met1Thr) | gnomAD v4 |
14 | g.94382978A>T | CA390850448 | SERPINA1 | c.260T>A (p.Met87Lys) c.2T>A (p.Met1Lys) | |
14 | g.94382979T>A | CA390850450 | SERPINA1 | c.259A>T (p.Met87Leu) c.1A>T (p.Met1Leu) | |
14 | g.94382979T>C | CA390850451 | SERPINA1 | c.259A>G (p.Met87Val) c.1A>G (p.Met1Val) | |
14 | g.94382979T>G | CA390850452 | SERPINA1 | c.259A>C (p.Met87Leu) c.1A>C (p.Met1Leu) | |
14 | g.94382980T>A | CA487841408 | SERPINA1 | c.258A>T (p.Ala86=) c.-1A>T (n.-1A>T) | dbSNP |