| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2276688C>A | CA7839896 | ABCA3 | c.5101G>T (p.Glu1701Ter) c.4927G>T (p.Glu1643Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2276688C= | CA2202145415 | ABCA3 | c.5101G= (p.Glu1701=) c.4927G= (p.Glu1643=) | |
| 16 | g.2276688C>G | CA394302079 | ABCA3 | c.5101G>C (p.Glu1701Gln) c.4927G>C (p.Glu1643Gln) | COSMIC |
| 16 | g.2276688C>T | CA7839895 | ABCA3 | c.5101G>A (p.Glu1701Lys) c.4927G>A (p.Glu1643Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2276689T>A | CA493088233 | ABCA3 | c.5100A>T (p.Ala1700=) c.4926A>T (p.Ala1642=) | |
| 16 | g.2276689T>C | CA493088242 | ABCA3 | c.5100A>G (p.Ala1700=) c.4926A>G (p.Ala1642=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2276689T>G | CA493088239 | ABCA3 | c.5100A>C (p.Ala1700=) c.4926A>C (p.Ala1642=) | |
| 16 | g.2276689T= | CA2202145416 | ABCA3 | c.5100A= (p.Ala1700=) c.4926A= (p.Ala1642=) | |
| 16 | g.2276690G>A | CA7839897 | ABCA3 | c.5099C>T (p.Ala1700Val) c.4925C>T (p.Ala1642Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2276690G>C | CA394302101 | ABCA3 | c.5099C>G (p.Ala1700Gly) c.4925C>G (p.Ala1642Gly) | |
| 16 | g.2276690G= | CA2202145417 | ABCA3 | c.5099C= (p.Ala1700=) c.4925C= (p.Ala1642=) | |
| 16 | g.2276690G>T | CA394302099 | ABCA3 | c.5099C>A (p.Ala1700Glu) c.4925C>A (p.Ala1642Glu) | |
| 16 | g.2276694_2276700del | CA2575882195 | ABCA3 | c.5093_5099del (p.Pro1698GlnfsTer?) c.4919_4925del (p.Pro1640GlnfsTer?) | |
| 16 | g.2276691C>A | CA394302105 | ABCA3 | c.5098G>T (p.Ala1700Ser) c.4924G>T (p.Ala1642Ser) | gnomAD v4 |
| 16 | g.2276691C= | CA2202145418 | ABCA3 | c.5098G= (p.Ala1700=) c.4924G= (p.Ala1642=) | |
| 16 | g.2276691C>G | CA394302114 | ABCA3 | c.5098G>C (p.Ala1700Pro) c.4924G>C (p.Ala1642Pro) | gnomAD v4 |
| 16 | g.2276691C>T | CA7839898 | ABCA3 | c.5098G>A (p.Ala1700Thr) c.4924G>A (p.Ala1642Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.2276692G>A | CA7839899 | ABCA3 | c.5097C>T (p.Thr1699=) c.4923C>T (p.Thr1641=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2276692G>C | CA493088267 | ABCA3 | c.5097C>G (p.Thr1699=) c.4923C>G (p.Thr1641=) | |
| 16 | g.2276692G= | CA2202145419 | ABCA3 | c.5097C= (p.Thr1699=) c.4923C= (p.Thr1641=) | |
| 16 | g.2276692G>T | CA493088274 | ABCA3 | c.5097C>A (p.Thr1699=) c.4923C>A (p.Thr1641=) | gnomAD v4 |
| 16 | g.2276700_2276713del | CA2695221865 | ABCA3 | c.5084_5097del (p.Leu1695ArgfsTer?) c.4910_4923del (p.Leu1637ArgfsTer?) | |
| 16 | g.2276693G>A | CA394302131 | ABCA3 | c.5096C>T (p.Thr1699Ile) c.4922C>T (p.Thr1641Ile) | gnomAD v4 COSMIC |
| 16 | g.2276693G>C | CA394302130 | ABCA3 | c.5096C>G (p.Thr1699Ser) c.4922C>G (p.Thr1641Ser) | |
| 16 | g.2276693G>T | CA394302135 | ABCA3 | c.5096C>A (p.Thr1699Asn) c.4922C>A (p.Thr1641Asn) | |
| 16 | g.2276694T>A | CA394302138 | ABCA3 | c.5095A>T (p.Thr1699Ser) c.4921A>T (p.Thr1641Ser) | |
| 16 | g.2276694T>C | CA394302141 | ABCA3 | c.5095A>G (p.Thr1699Ala) c.4921A>G (p.Thr1641Ala) | gnomAD v4 |
| 16 | g.2276694T>G | CA394302139 | ABCA3 | c.5095A>C (p.Thr1699Pro) c.4921A>C (p.Thr1641Pro) | |
| 16 | g.2276694_2276698del | CA2631185804 | ABCA3 | c.5091_5095del (p.Pro1698ArgfsTer?) c.4917_4921del (p.Pro1640ArgfsTer?) | gnomAD v4 |
| 16 | g.2276695G>A | CA493088308 | ABCA3 | c.5094C>T (p.Pro1698=) c.4920C>T (p.Pro1640=) | gnomAD v4 |
| 16 | g.2276695G>C | CA493088314 | ABCA3 | c.5094C>G (p.Pro1698=) c.4920C>G (p.Pro1640=) | |
| 16 | g.2276695G>T | CA493088316 | ABCA3 | c.5094C>A (p.Pro1698=) c.4920C>A (p.Pro1640=) | |
| 16 | g.2276696G>A | CA7839900 | ABCA3 | c.5093C>T (p.Pro1698Leu) c.4919C>T (p.Pro1640Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2276696G>C | CA394302146 | ABCA3 | c.5093C>G (p.Pro1698Arg) c.4919C>G (p.Pro1640Arg) | |
| 16 | g.2276696G= | CA2202145420 | ABCA3 | c.5093C= (p.Pro1698=) c.4919C= (p.Pro1640=) | |
| 16 | g.2276696G>T | CA394302142 | ABCA3 | c.5093C>A (p.Pro1698His) c.4919C>A (p.Pro1640His) | |
| 16 | g.2276697G>A | CA394302148 | ABCA3 | c.5092C>T (p.Pro1698Ser) c.4918C>T (p.Pro1640Ser) | gnomAD v4 |
| 16 | g.2276697G>C | CA394302153 | ABCA3 | c.5092C>G (p.Pro1698Ala) c.4918C>G (p.Pro1640Ala) | |
| 16 | g.2276697G>T | CA394302162 | ABCA3 | c.5092C>A (p.Pro1698Thr) c.4918C>A (p.Pro1640Thr) | |
| 16 | g.2276698C>A | CA493088343 | ABCA3 | c.5091G>T (p.Pro1697=) c.4917G>T (p.Pro1639=) | |
| 16 | g.2276698C= | CA2202145421 | ABCA3 | c.5091G= (p.Pro1697=) c.4917G= (p.Pro1639=) | |
| 16 | g.2276698C>G | CA493088344 | ABCA3 | c.5091G>C (p.Pro1697=) c.4917G>C (p.Pro1639=) | |
| 16 | g.2276698C>T | CA7839901 | ABCA3 | c.5091G>A (p.Pro1697=) c.4917G>A (p.Pro1639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2276699G>A | CA7839902 | ABCA3 | c.5090C>T (p.Pro1697Leu) c.4916C>T (p.Pro1639Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2276699G>C | CA394302166 | ABCA3 | c.5090C>G (p.Pro1697Arg) c.4916C>G (p.Pro1639Arg) | |
| 16 | g.2276699G= | CA2202145422 | ABCA3 | c.5090C= (p.Pro1697=) c.4916C= (p.Pro1639=) | |
| 16 | g.2276699G>T | CA394302168 | ABCA3 | c.5090C>A (p.Pro1697Gln) c.4916C>A (p.Pro1639Gln) | |
| 16 | g.2276700G>A | CA7839903 | ABCA3 | c.5089C>T (p.Pro1697Ser) c.4915C>T (p.Pro1639Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2276700G>C | CA276819475 | ABCA3 | c.5089C>G (p.Pro1697Ala) c.4915C>G (p.Pro1639Ala) | dbSNP gnomAD v4 |
| 16 | g.2276700G= | CA2202145423 | ABCA3 | c.5089C= (p.Pro1697=) c.4915C= (p.Pro1639=) |