Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2276694_2276700del | CA2575882195 | ABCA3 | c.5093_5099del (p.Pro1698GlnfsTer?) c.4919_4925del (p.Pro1640GlnfsTer?) | |
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=) | |
16 | g.2276700G>T | CA394302172 | ABCA3 | c.5089C>A (p.Pro1697Thr) c.4915C>A (p.Pro1639Thr) | |
16 | g.2276701C>A | CA394302177 | ABCA3 | c.5088G>T (p.Gln1696His) c.4914G>T (p.Gln1638His) | |
16 | g.2276701C>G | CA394302181 | ABCA3 | c.5088G>C (p.Gln1696His) c.4914G>C (p.Gln1638His) | |
16 | g.2276701C>T | CA493088396 | ABCA3 | c.5088G>A (p.Gln1696=) c.4914G>A (p.Gln1638=) | |
16 | g.2276702T>A | CA394302182 | ABCA3 | c.5087A>T (p.Gln1696Leu) c.4913A>T (p.Gln1638Leu) | |
16 | g.2276702T>C | CA394302183 | ABCA3 | c.5087A>G (p.Gln1696Arg) c.4913A>G (p.Gln1638Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2276702T>G | CA394302184 | ABCA3 | c.5087A>C (p.Gln1696Pro) c.4913A>C (p.Gln1638Pro) | |
16 | g.2276702T= | CA2202145424 | ABCA3 | c.5087A= (p.Gln1696=) c.4913A= (p.Gln1638=) | |
16 | g.2276703G>A | CA394302191 | ABCA3 | c.5086C>T (p.Gln1696Ter) c.4912C>T (p.Gln1638Ter) | gnomAD v3 gnomAD v4 |
16 | g.2276703G>C | CA394302186 | ABCA3 | c.5086C>G (p.Gln1696Glu) c.4912C>G (p.Gln1638Glu) | |
16 | g.2276703G>T | CA394302188 | ABCA3 | c.5086C>A (p.Gln1696Lys) c.4912C>A (p.Gln1638Lys) | |
16 | g.2276704C>A | CA493088454 | ABCA3 | c.5085G>T (p.Leu1695=) c.4911G>T (p.Leu1637=) | |
16 | g.2276704C= | CA2202145425 | ABCA3 | c.5085G= (p.Leu1695=) c.4911G= (p.Leu1637=) | |
16 | g.2276704C>G | CA493088443 | ABCA3 | c.5085G>C (p.Leu1695=) c.4911G>C (p.Leu1637=) | |
16 | g.2276704C>T | CA493088441 | ABCA3 | c.5085G>A (p.Leu1695=) c.4911G>A (p.Leu1637=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2276705A= | CA2202145426 | ABCA3 | c.5084T= (p.Leu1695=) c.4910T= (p.Leu1637=) | |
16 | g.2276705A>C | CA394302194 | ABCA3 | c.5084T>G (p.Leu1695Arg) c.4910T>G (p.Leu1637Arg) | |
16 | g.2276705A>G | CA394302196 | ABCA3 | c.5084T>C (p.Leu1695Pro) c.4910T>C (p.Leu1637Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2276705A>T | CA394302197 | ABCA3 | c.5084T>A (p.Leu1695Gln) c.4910T>A (p.Leu1637Gln) | |
16 | g.2276706G>A | CA493088474 | ABCA3 | c.5083C>T (p.Leu1695=) c.4909C>T (p.Leu1637=) | ClinVar |