Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2277924_2277928delinsCCTGT | CA2202146044 | ABCA3 | c.4860_4864delinsACAGG (p.Gln1620=) c.4686_4690delinsACAGG (p.Gln1562=) | |
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 |
16 | g.2277928T>G | CA394304415 | ABCA3 | c.4860A>C (p.Gln1620His) c.4686A>C (p.Gln1562His) | |
16 | g.2277928T= | CA2202146046 | ABCA3 | c.4860A= (p.Gln1620=) c.4686A= (p.Gln1562=) | |
16 | g.2277929T>A | CA394304431 | ABCA3 | c.4859A>T (p.Gln1620Leu) c.4685A>T (p.Gln1562Leu) | |
16 | g.2277929T>C | CA394304437 | ABCA3 | c.4859A>G (p.Gln1620Arg) c.4685A>G (p.Gln1562Arg) | |
16 | g.2277929T>G | CA394304434 | ABCA3 | c.4859A>C (p.Gln1620Pro) c.4685A>C (p.Gln1562Pro) | |
16 | g.2277930G>A | CA394304443 | ABCA3 | c.4858C>T (p.Gln1620Ter) c.4684C>T (p.Gln1562Ter) | ClinVar |
16 | g.2277930G>C | CA394304446 | ABCA3 | c.4858C>G (p.Gln1620Glu) c.4684C>G (p.Gln1562Glu) | |
16 | g.2277930G>T | CA394304448 | ABCA3 | c.4858C>A (p.Gln1620Lys) c.4684C>A (p.Gln1562Lys) | |
16 | g.2277931C>A | CA493360588 | ABCA3 | c.4857G>T (p.Gly1619=) c.4683G>T (p.Gly1561=) | |
16 | g.2277931C= | CA2202146047 | ABCA3 | c.4857G= (p.Gly1619=) c.4683G= (p.Gly1561=) | |
16 | g.2277931C>G | CA493360589 | ABCA3 | c.4857G>C (p.Gly1619=) c.4683G>C (p.Gly1561=) | |
16 | g.2277931C>T | CA7840002 | ABCA3 | c.4857G>A (p.Gly1619=) c.4683G>A (p.Gly1561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2277932C>A | CA394304455 | ABCA3 | c.4856G>T (p.Gly1619Val) c.4682G>T (p.Gly1561Val) | gnomAD v4 |
16 | g.2277932C>G | CA394304459 | ABCA3 | c.4856G>C (p.Gly1619Ala) c.4682G>C (p.Gly1561Ala) | |
16 | g.2277932C>T | CA394304462 | ABCA3 | c.4856G>A (p.Gly1619Glu) c.4682G>A (p.Gly1561Glu) | |
16 | g.2277936_2277948del | CA2695221869 | ABCA3 | c.4844_4856del (p.Val1615GlyfsTer15) c.4670_4682del (p.Val1557GlyfsTer15) | |
16 | g.2277933C>A | CA394304476 | ABCA3 | c.4855G>T (p.Gly1619Trp) c.4681G>T (p.Gly1561Trp) | |
16 | g.2277933C= | CA2202146048 | ABCA3 | c.4855G= (p.Gly1619=) c.4681G= (p.Gly1561=) | |
16 | g.2277933C>G | CA394304478 | ABCA3 | c.4855G>C (p.Gly1619Arg) c.4681G>C (p.Gly1561Arg) | gnomAD v4 |
16 | g.2277933C>T | CA394304480 | ABCA3 | c.4855G>A (p.Gly1619Arg) c.4681G>A (p.Gly1561Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2277934T>A | CA394304482 | ABCA3 | c.4854A>T (p.Glu1618Asp) c.4680A>T (p.Glu1560Asp) | |
16 | g.2277934T>C | CA493360590 | ABCA3 | c.4854A>G (p.Glu1618=) c.4680A>G (p.Glu1560=) | |
16 | g.2277934T>G | CA394304483 | ABCA3 | c.4854A>C (p.Glu1618Asp) c.4680A>C (p.Glu1560Asp) | gnomAD v4 |
16 | g.2277935T>A | CA394304491 | ABCA3 | c.4853A>T (p.Glu1618Val) c.4679A>T (p.Glu1560Val) | |
16 | g.2277935T>C | CA7840003 | ABCA3 | c.4853A>G (p.Glu1618Gly) c.4679A>G (p.Glu1560Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2277935T>G | CA394304488 | ABCA3 | c.4853A>C (p.Glu1618Ala) c.4679A>C (p.Glu1560Ala) | |
16 | g.2277935T= | CA2202146049 | ABCA3 | c.4853A= (p.Glu1618=) c.4679A= (p.Glu1560=) | |
16 | g.2277936C>A | CA394304495 | ABCA3 | c.4852G>T (p.Glu1618Ter) c.4678G>T (p.Glu1560Ter) | |
16 | g.2277936C>G | CA394304498 | ABCA3 | c.4852G>C (p.Glu1618Gln) c.4678G>C (p.Glu1560Gln) | |
16 | g.2277936C>T | CA394304499 | ABCA3 | c.4852G>A (p.Glu1618Lys) c.4678G>A (p.Glu1560Lys) | gnomAD v4 |
16 | g.2277937A= | CA2202146050 | ABCA3 | c.4851T= (p.Ser1617=) c.4677T= (p.Ser1559=) | |
16 | g.2277937A>C | CA394304504 | ABCA3 | c.4851T>G (p.Ser1617Arg) c.4677T>G (p.Ser1559Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2277937A>G | CA493360591 | ABCA3 | c.4851T>C (p.Ser1617=) c.4677T>C (p.Ser1559=) | |
16 | g.2277937A>T | CA394304506 | ABCA3 | c.4851T>A (p.Ser1617Arg) c.4677T>A (p.Ser1559Arg) | |
16 | g.2277938C>A | CA394304510 | ABCA3 | c.4850G>T (p.Ser1617Ile) c.4676G>T (p.Ser1559Ile) | |
16 | g.2277938C= | CA2202146051 | ABCA3 | c.4850G= (p.Ser1617=) c.4676G= (p.Ser1559=) | |
16 | g.2277938C>G | CA394304512 | ABCA3 | c.4850G>C (p.Ser1617Thr) c.4676G>C (p.Ser1559Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2277938C>T | CA394304514 | ABCA3 | c.4850G>A (p.Ser1617Asn) c.4676G>A (p.Ser1559Asn) | gnomAD v4 |
16 | g.2277939T>A | CA394304518 | ABCA3 | c.4849A>T (p.Ser1617Cys) c.4675A>T (p.Ser1559Cys) |