| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2278016T>A | CA394305077 | ABCA3 | c.4772A>T (p.Gln1591Leu) c.4598A>T (p.Gln1533Leu) | |
| 16 | g.2278016T>C | CA394305078 | ABCA3 | c.4772A>G (p.Gln1591Arg) c.4598A>G (p.Gln1533Arg) | |
| 16 | g.2278016T>G | CA119216 | ABCA3 | c.4772A>C (p.Gln1591Pro) c.4598A>C (p.Gln1533Pro) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2278016T= | CA2202146079 | ABCA3 | c.4772A= (p.Gln1591=) c.4598A= (p.Gln1533=) | |
| 16 | g.2278017G>A | CA394305083 | ABCA3 | c.4771C>T (p.Gln1591Ter) c.4597C>T (p.Gln1533Ter) | |
| 16 | g.2278017G>C | CA394305084 | ABCA3 | c.4771C>G (p.Gln1591Glu) c.4597C>G (p.Gln1533Glu) | |
| 16 | g.2278017G>T | CA394305088 | ABCA3 | c.4771C>A (p.Gln1591Lys) c.4597C>A (p.Gln1533Lys) | |
| 16 | g.2278018C>A | CA493360639 | ABCA3 | c.4770G>T (p.Gly1590=) c.4596G>T (p.Gly1532=) | dbSNP |
| 16 | g.2278018C= | CA2202146080 | ABCA3 | c.4770G= (p.Gly1590=) c.4596G= (p.Gly1532=) | |
| 16 | g.2278018C>G | CA493360641 | ABCA3 | c.4770G>C (p.Gly1590=) c.4596G>C (p.Gly1532=) | |
| 16 | g.2278018C>T | CA493360640 | ABCA3 | c.4770G>A (p.Gly1590=) c.4596G>A (p.Gly1532=) | |
| 16 | g.2278019C>A | CA394305095 | ABCA3 | c.4769G>T (p.Gly1590Val) c.4595G>T (p.Gly1532Val) | |
| 16 | g.2278019C>G | CA394305090 | ABCA3 | c.4769G>C (p.Gly1590Ala) c.4595G>C (p.Gly1532Ala) | |
| 16 | g.2278019C>T | CA394305093 | ABCA3 | c.4769G>A (p.Gly1590Glu) c.4595G>A (p.Gly1532Glu) | |
| 16 | g.2278020C>A | CA394305098 | ABCA3 | c.4768G>T (p.Gly1590Trp) c.4594G>T (p.Gly1532Trp) | |
| 16 | g.2278020C>G | CA394305100 | ABCA3 | c.4768G>C (p.Gly1590Arg) c.4594G>C (p.Gly1532Arg) | |
| 16 | g.2278020C>T | CA394305103 | ABCA3 | c.4768G>A (p.Gly1590Arg) c.4594G>A (p.Gly1532Arg) | |
| 16 | g.2278021C>A | CA394305105 | ABCA3 | c.4767G>T (p.Gln1589His) c.4593G>T (p.Gln1531His) | |
| 16 | g.2278021C= | CA2202146081 | ABCA3 | c.4767G= (p.Gln1589=) c.4593G= (p.Gln1531=) | |
| 16 | g.2278021C>G | CA394305107 | ABCA3 | c.4767G>C (p.Gln1589His) c.4593G>C (p.Gln1531His) | |
| 16 | g.2278021C>T | CA493360642 | ABCA3 | c.4767G>A (p.Gln1589=) c.4593G>A (p.Gln1531=) | dbSNP gnomAD v4 |
| 16 | g.2278022T>A | CA394305110 | ABCA3 | c.4766A>T (p.Gln1589Leu) c.4592A>T (p.Gln1531Leu) | |
| 16 | g.2278022T>C | CA394305113 | ABCA3 | c.4766A>G (p.Gln1589Arg) c.4592A>G (p.Gln1531Arg) | |
| 16 | g.2278022T>G | CA394305112 | ABCA3 | c.4766A>C (p.Gln1589Pro) c.4592A>C (p.Gln1531Pro) | |
| 16 | g.2278023G>A | CA394305117 | ABCA3 | c.4765C>T (p.Gln1589Ter) c.4591C>T (p.Gln1531Ter) | dbSNP gnomAD v2 |
| 16 | g.2278023G>C | CA394305119 | ABCA3 | c.4765C>G (p.Gln1589Glu) c.4591C>G (p.Gln1531Glu) | |
| 16 | g.2278023G= | CA2202146082 | ABCA3 | c.4765C= (p.Gln1589=) c.4591C= (p.Gln1531=) | |
| 16 | g.2278023G>T | CA394305121 | ABCA3 | c.4765C>A (p.Gln1589Lys) c.4591C>A (p.Gln1531Lys) | |
| 16 | g.2278024C>A | CA493360643 | ABCA3 | c.4764G>T (p.Val1588=) c.4590G>T (p.Val1530=) | |
| 16 | g.2278024C= | CA2202146083 | ABCA3 | c.4764G= (p.Val1588=) c.4590G= (p.Val1530=) | |
| 16 | g.2278024C>G | CA493360645 | ABCA3 | c.4764G>C (p.Val1588=) c.4590G>C (p.Val1530=) | |
| 16 | g.2278024C>T | CA493360644 | ABCA3 | c.4764G>A (p.Val1588=) c.4590G>A (p.Val1530=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2278025A>C | CA394305124 | ABCA3 | c.4763T>G (p.Val1588Gly) c.4589T>G (p.Val1530Gly) | |
| 16 | g.2278025A>G | CA394305127 | ABCA3 | c.4763T>C (p.Val1588Ala) c.4589T>C (p.Val1530Ala) | |
| 16 | g.2278025A>T | CA394305129 | ABCA3 | c.4763T>A (p.Val1588Glu) c.4589T>A (p.Val1530Glu) | |
| 16 | g.2278026C>A | CA394305131 | ABCA3 | c.4762G>T (p.Val1588Leu) c.4588G>T (p.Val1530Leu) | |
| 16 | g.2278026C= | CA2202146084 | ABCA3 | c.4762G= (p.Val1588=) c.4588G= (p.Val1530=) | |
| 16 | g.2278026C>G | CA394305133 | ABCA3 | c.4762G>C (p.Val1588Leu) c.4588G>C (p.Val1530Leu) | |
| 16 | g.2278026C>T | CA7840016 | ABCA3 | c.4762G>A (p.Val1588Met) c.4588G>A (p.Val1530Met) | dbSNP ExAC gnomAD v2 |
| 16 | g.2278027C>A | CA394305135 | ABCA3 | c.4761G>T (p.Met1587Ile) c.4587G>T (p.Met1529Ile) | |
| 16 | g.2278027C= | CA2202146085 | ABCA3 | c.4761G= (p.Met1587=) c.4587G= (p.Met1529=) | |
| 16 | g.2278027C>G | CA276820622 | ABCA3 | c.4761G>C (p.Met1587Ile) c.4587G>C (p.Met1529Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2278027C>T | CA394305142 | ABCA3 | c.4761G>A (p.Met1587Ile) c.4587G>A (p.Met1529Ile) | |
| 16 | g.2278028A>C | CA394305149 | ABCA3 | c.4760T>G (p.Met1587Arg) c.4586T>G (p.Met1529Arg) | |
| 16 | g.2278028A>G | CA394305145 | ABCA3 | c.4760T>C (p.Met1587Thr) c.4586T>C (p.Met1529Thr) | gnomAD v4 |
| 16 | g.2278028A>T | CA394305146 | ABCA3 | c.4760T>A (p.Met1587Lys) c.4586T>A (p.Met1529Lys) | |
| 16 | g.2278029T>A | CA394305151 | ABCA3 | c.4759A>T (p.Met1587Leu) c.4585A>T (p.Met1529Leu) | |
| 16 | g.2278029T>C | CA394305152 | ABCA3 | c.4759A>G (p.Met1587Val) c.4585A>G (p.Met1529Val) | dbSNP gnomAD v4 |
| 16 | g.2278029T>G | CA394305154 | ABCA3 | c.4759A>C (p.Met1587Leu) c.4585A>C (p.Met1529Leu) | |
| 16 | g.2278029T= | CA2202146086 | ABCA3 | c.4759A= (p.Met1587=) c.4585A= (p.Met1529=) |