| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2277914_2277916del | CA7839994 | ABCA3 | c.4876_4878del (p.Glu1626del) c.4702_4704del (p.Glu1568del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2277916C>A | CA493360580 | ABCA3 | c.4872G>T (p.Leu1624=) c.4698G>T (p.Leu1566=) | |
| 16 | g.2277916C>G | CA493360582 | ABCA3 | c.4872G>C (p.Leu1624=) c.4698G>C (p.Leu1566=) | |
| 16 | g.2277916C>T | CA493360581 | ABCA3 | c.4872G>A (p.Leu1624=) c.4698G>A (p.Leu1566=) | ClinVar |
| 16 | g.2277917A= | CA2202146037 | ABCA3 | c.4871T= (p.Leu1624=) c.4697T= (p.Leu1566=) | |
| 16 | g.2277917A>C | CA394304341 | ABCA3 | c.4871T>G (p.Leu1624Arg) c.4697T>G (p.Leu1566Arg) | |
| 16 | g.2277917A>G | CA276820616 | ABCA3 | c.4871T>C (p.Leu1624Pro) c.4697T>C (p.Leu1566Pro) | dbSNP |
| 16 | g.2277917A>T | CA394304343 | ABCA3 | c.4871T>A (p.Leu1624Gln) c.4697T>A (p.Leu1566Gln) | |
| 16 | g.2277918G>A | CA7839997 | ABCA3 | c.4870C>T (p.Leu1624=) c.4696C>T (p.Leu1566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2277918G>C | CA394304350 | ABCA3 | c.4870C>G (p.Leu1624Val) c.4696C>G (p.Leu1566Val) | |
| 16 | g.2277918G= | CA2202146038 | ABCA3 | c.4870C= (p.Leu1624=) c.4696C= (p.Leu1566=) | |
| 16 | g.2277918G>T | CA394304355 | ABCA3 | c.4870C>A (p.Leu1624Met) c.4696C>A (p.Leu1566Met) | |
| 16 | g.2277919C>A | CA493360583 | ABCA3 | c.4869G>T (p.Ala1623=) c.4695G>T (p.Ala1565=) | ClinVar gnomAD v4 |
| 16 | g.2277919C= | CA2202146039 | ABCA3 | c.4869G= (p.Ala1623=) c.4695G= (p.Ala1565=) | |
| 16 | g.2277919C>G | CA493360584 | ABCA3 | c.4869G>C (p.Ala1623=) c.4695G>C (p.Ala1565=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2277919C>T | CA7839998 | ABCA3 | c.4869G>A (p.Ala1623=) c.4695G>A (p.Ala1565=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2277920G>A | CA7839999 | ABCA3 | c.4868C>T (p.Ala1623Val) c.4694C>T (p.Ala1565Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2277920G>C | CA394304359 | ABCA3 | c.4868C>G (p.Ala1623Gly) c.4694C>G (p.Ala1565Gly) | |
| 16 | g.2277920G= | CA2202146040 | ABCA3 | c.4868C= (p.Ala1623=) c.4694C= (p.Ala1565=) | |
| 16 | g.2277920G>T | CA276820617 | ABCA3 | c.4868C>A (p.Ala1623Glu) c.4694C>A (p.Ala1565Glu) | dbSNP gnomAD v4 |
| 16 | g.2277921C>A | CA394304363 | ABCA3 | c.4867G>T (p.Ala1623Ser) c.4693G>T (p.Ala1565Ser) | |
| 16 | g.2277921C= | CA2202146041 | ABCA3 | c.4867G= (p.Ala1623=) c.4693G= (p.Ala1565=) | |
| 16 | g.2277921C>G | CA394304371 | ABCA3 | c.4867G>C (p.Ala1623Pro) c.4693G>C (p.Ala1565Pro) | |
| 16 | g.2277921C>T | CA394304374 | ABCA3 | c.4867G>A (p.Ala1623Thr) c.4693G>A (p.Ala1565Thr) | |
| 16 | g.2277922C>A | CA394304377 | ABCA3 | c.4866G>T (p.Glu1622Asp) c.4692G>T (p.Glu1564Asp) | |
| 16 | g.2277922C= | CA2202146042 | ABCA3 | c.4866G= (p.Glu1622=) c.4692G= (p.Glu1564=) | |
| 16 | g.2277922C>G | CA394304379 | ABCA3 | c.4866G>C (p.Glu1622Asp) c.4692G>C (p.Glu1564Asp) | dbSNP |
| 16 | g.2277922C>T | CA493360585 | ABCA3 | c.4866G>A (p.Glu1622=) c.4692G>A (p.Glu1564=) | |
| 16 | g.2277922_2277923insCTTCAC | CA719125868 | ABCA3 | c.4866_4867insTGAAGG c.4692_4693insTGAAGG | dbSNP |
| 16 | g.2277923T>A | CA394304387 | ABCA3 | c.4865A>T (p.Glu1622Val) c.4691A>T (p.Glu1564Val) | |
| 16 | g.2277923T>C | CA394304386 | ABCA3 | c.4865A>G (p.Glu1622Gly) c.4691A>G (p.Glu1564Gly) | |
| 16 | g.2277923T>G | CA276820618 | ABCA3 | c.4865A>C (p.Glu1622Ala) c.4691A>C (p.Glu1564Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2277923T= | CA2202146043 | ABCA3 | c.4865A= (p.Glu1622=) c.4691A= (p.Glu1564=) | |
| 16 | g.2277924C>A | CA394304388 | ABCA3 | c.4864G>T (p.Glu1622Ter) c.4690G>T (p.Glu1564Ter) | |
| 16 | g.2277924C>G | CA394304389 | ABCA3 | c.4864G>C (p.Glu1622Gln) c.4690G>C (p.Glu1564Gln) | |
| 16 | g.2277924C>T | CA394304391 | ABCA3 | c.4864G>A (p.Glu1622Lys) c.4690G>A (p.Glu1564Lys) | |
| 16 | g.2277924_2277928delinsCCTGT | CA2202146044 | ABCA3 | c.4860_4864delinsACAGG (p.Gln1620=) c.4686_4690delinsACAGG (p.Gln1562=) | |
| 16 | g.2277925C>A | CA394304394 | ABCA3 | c.4863G>T (p.Gln1621His) c.4689G>T (p.Gln1563His) | |
| 16 | g.2277925C>G | CA394304403 | ABCA3 | c.4863G>C (p.Gln1621His) c.4689G>C (p.Gln1563His) | |
| 16 | g.2277925C>T | CA493360586 | ABCA3 | c.4863G>A (p.Gln1621=) c.4689G>A (p.Gln1563=) | gnomAD v4 |
| 16 | g.2277925_2277928del | CA719125875 | ABCA3 | c.4860_4863del (p.Gln1621ArgfsTer12) c.4686_4689del (p.Gln1563ArgfsTer12) | dbSNP |
| 16 | g.2277926T>A | CA394304407 | ABCA3 | c.4862A>T (p.Gln1621Leu) c.4688A>T (p.Gln1563Leu) | |
| 16 | g.2277926T>C | CA7840000 | ABCA3 | c.4862A>G (p.Gln1621Arg) c.4688A>G (p.Gln1563Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2277926T>G | CA394304408 | ABCA3 | c.4862A>C (p.Gln1621Pro) c.4688A>C (p.Gln1563Pro) | |
| 16 | g.2277926T= | CA2202146045 | ABCA3 | c.4862A= (p.Gln1621=) c.4688A= (p.Gln1563=) | |
| 16 | g.2277927G>A | CA394304409 | ABCA3 | c.4861C>T (p.Gln1621Ter) c.4687C>T (p.Gln1563Ter) | gnomAD v4 COSMIC |
| 16 | g.2277927G>C | CA394304411 | ABCA3 | c.4861C>G (p.Gln1621Glu) c.4687C>G (p.Gln1563Glu) | |
| 16 | g.2277927G>T | CA394304412 | ABCA3 | c.4861C>A (p.Gln1621Lys) c.4687C>A (p.Gln1563Lys) | gnomAD v4 |
| 16 | g.2277928T>A | CA394304422 | ABCA3 | c.4860A>T (p.Gln1620His) c.4686A>T (p.Gln1562His) | |
| 16 | g.2277928T>C | CA7840001 | ABCA3 | c.4860A>G (p.Gln1620=) c.4686A>G (p.Gln1562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |