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.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 |
16 | g.2276706G>C | CA394302199 | ABCA3 | c.5083C>G (p.Leu1695Val) c.4909C>G (p.Leu1637Val) | |
16 | g.2276706G>T | CA394302202 | ABCA3 | c.5083C>A (p.Leu1695Met) c.4909C>A (p.Leu1637Met) | |
16 | g.2276707G>A | CA493088498 | ABCA3 | c.5082C>T (p.His1694=) c.4908C>T (p.His1636=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2276707G>C | CA394302205 | ABCA3 | c.5082C>G (p.His1694Gln) c.4908C>G (p.His1636Gln) | |
16 | g.2276707G= | CA2202145427 | ABCA3 | c.5082C= (p.His1694=) c.4908C= (p.His1636=) | |
16 | g.2276707G>T | CA394302208 | ABCA3 | c.5082C>A (p.His1694Gln) c.4908C>A (p.His1636Gln) | |
16 | g.2276708T>A | CA394302211 | ABCA3 | c.5081A>T (p.His1694Leu) c.4907A>T (p.His1636Leu) | |
16 | g.2276708T>C | CA394302213 | ABCA3 | c.5081A>G (p.His1694Arg) c.4907A>G (p.His1636Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2276708T>G | CA394302215 | ABCA3 | c.5081A>C (p.His1694Pro) c.4907A>C (p.His1636Pro) | |
16 | g.2276708T= | CA2202145428 | ABCA3 | c.5081A= (p.His1694=) c.4907A= (p.His1636=) | |
16 | g.2276709G>A | CA10637337 | ABCA3 | c.5080C>T (p.His1694Tyr) c.4906C>T (p.His1636Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2276709G>C | CA394302218 | ABCA3 | c.5080C>G (p.His1694Asp) c.4906C>G (p.His1636Asp) | |
16 | g.2276709G= | CA2202145429 | ABCA3 | c.5080C= (p.His1694=) c.4906C= (p.His1636=) | |
16 | g.2276709G>T | CA394302221 | ABCA3 | c.5080C>A (p.His1694Asn) c.4906C>A (p.His1636Asn) | |
16 | g.2276710G>A | CA493088567 | ABCA3 | c.5079C>T (p.Ala1693=) c.4905C>T (p.Ala1635=) | |
16 | g.2276710G>C | CA493088588 | ABCA3 | c.5079C>G (p.Ala1693=) c.4905C>G (p.Ala1635=) | |
16 | g.2276710G>T | CA493088611 | ABCA3 | c.5079C>A (p.Ala1693=) c.4905C>A (p.Ala1635=) | |
16 | g.2276711G>A | CA394302224 | ABCA3 | c.5078C>T (p.Ala1693Val) c.4904C>T (p.Ala1635Val) | |
16 | g.2276711G>C | CA394302229 | ABCA3 | c.5078C>G (p.Ala1693Gly) c.4904C>G (p.Ala1635Gly) | |
16 | g.2276711G>T | CA394302226 | ABCA3 | c.5078C>A (p.Ala1693Asp) c.4904C>A (p.Ala1635Asp) | gnomAD v4 |
16 | g.2276712C>A | CA276819481 | ABCA3 | c.5077G>T (p.Ala1693Ser) c.4903G>T (p.Ala1635Ser) | dbSNP |