Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2326112G>A | CA7841761 | ABCA3 | c.217C>T (p.Pro73Ser) n.780C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.2326112G>C | CA394352242 | ABCA3 | c.217C>G (p.Pro73Ala) n.780C>G | |
16 | g.2326112G= | CA2202173483 | ABCA3 | c.217C= (p.Pro73=) n.780C= | |
16 | g.2326112G>T | CA7841762 | ABCA3 | c.217C>A (p.Pro73Thr) n.780C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2326113A= | CA2202173488 | ABCA3 | c.216T= (p.Pro72=) n.779T= | |
16 | g.2326113A>C | CA493361779 | ABCA3 | c.216T>G (p.Pro72=) n.779T>G | |
16 | g.2326113A>G | CA493361781 | ABCA3 | c.216T>C (p.Pro72=) n.779T>C | |
16 | g.2326113A>T | CA493361782 | ABCA3 | c.216T>A (p.Pro72=) n.779T>A | |
16 | g.2326114G>A | CA276853777 | ABCA3 | c.215C>T (p.Pro72Leu) n.778C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.2326114G>C | CA394352248 | ABCA3 | c.215C>G (p.Pro72Arg) n.778C>G | gnomAD v4 COSMIC |
16 | g.2326114G= | CA2202173493 | ABCA3 | c.215C= (p.Pro72=) n.778C= | |
16 | g.2326114G>T | CA394352249 | ABCA3 | c.215C>A (p.Pro72His) n.778C>A | |
16 | g.2326116dup | CA2202173494 | ABCA3 | c.215dup (p.Pro73SerfsTer16) n.778dup | dbSNP |
16 | g.2326115G>A | CA394352250 | ABCA3 | c.214C>T (p.Pro72Ser) n.777C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2326115G>C | CA394352255 | ABCA3 | c.214C>G (p.Pro72Ala) n.777C>G | |
16 | g.2326115G= | CA2202173499 | ABCA3 | c.214C= (p.Pro72=) n.777C= | |
16 | g.2326115G>T | CA394352252 | ABCA3 | c.214C>A (p.Pro72Thr) n.777C>A | gnomAD v4 |
16 | g.2326116G>A | CA7841763 | ABCA3 | c.213C>T (p.Phe71=) n.776C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326116G>C | CA394352257 | ABCA3 | c.213C>G (p.Phe71Leu) n.776C>G | |
16 | g.2326116G= | CA2202173503 | ABCA3 | c.213C= (p.Phe71=) n.776C= | |
16 | g.2326116G>T | CA394352260 | ABCA3 | c.213C>A (p.Phe71Leu) n.776C>A | |
16 | g.2326117A>C | CA394352262 | ABCA3 | c.212T>G (p.Phe71Cys) n.775T>G | |
16 | g.2326117A>G | CA394352264 | ABCA3 | c.212T>C (p.Phe71Ser) n.775T>C | |
16 | g.2326117A>T | CA394352266 | ABCA3 | c.212T>A (p.Phe71Tyr) n.775T>A | |
16 | g.2326118A>C | CA394352268 | ABCA3 | c.211T>G (p.Phe71Val) n.774T>G | |
16 | g.2326118A>G | CA394352271 | ABCA3 | c.211T>C (p.Phe71Leu) n.774T>C | gnomAD v4 |
16 | g.2326118A>T | CA394352274 | ABCA3 | c.211T>A (p.Phe71Ile) n.774T>A | |
16 | g.2326119G>A | CA493361800 | ABCA3 | c.210C>T (p.Thr70=) n.773C>T | dbSNP gnomAD v4 |
16 | g.2326119G>C | CA493361801 | ABCA3 | c.210C>G (p.Thr70=) n.773C>G | dbSNP gnomAD v2 |
16 | g.2326119G= | CA2202173508 | ABCA3 | c.210C= (p.Thr70=) n.773C= | |
16 | g.2326119G>T | CA493361803 | ABCA3 | c.210C>A (p.Thr70=) n.773C>A | |
16 | g.2326120G>A | CA394352277 | ABCA3 | c.209C>T (p.Thr70Ile) n.772C>T | |
16 | g.2326120G>C | CA394352280 | ABCA3 | c.209C>G (p.Thr70Ser) n.772C>G | |
16 | g.2326120G>T | CA394352276 | ABCA3 | c.209C>A (p.Thr70Asn) n.772C>A | |
16 | g.2326121T>A | CA394352281 | ABCA3 | c.208A>T (p.Thr70Ser) n.771A>T | |
16 | g.2326121T>C | CA394352284 | ABCA3 | c.208A>G (p.Thr70Ala) n.771A>G | |
16 | g.2326121T>G | CA394352286 | ABCA3 | c.208A>C (p.Thr70Pro) n.771A>C | dbSNP |
16 | g.2326121T= | CA2202173511 | ABCA3 | c.208A= (p.Thr70=) n.771A= | |
16 | g.2326122G>A | CA493361812 | ABCA3 | c.207C>T (p.Phe69=) n.770C>T | |
16 | g.2326122G>C | CA394352288 | ABCA3 | c.207C>G (p.Phe69Leu) n.770C>G | |
16 | g.2326122G>T | CA394352291 | ABCA3 | c.207C>A (p.Phe69Leu) n.770C>A | |
16 | g.2326123A>C | CA394352298 | ABCA3 | c.206T>G (p.Phe69Cys) n.769T>G | |
16 | g.2326123A>G | CA394352294 | ABCA3 | c.206T>C (p.Phe69Ser) n.769T>C | |
16 | g.2326123A>T | CA394352296 | ABCA3 | c.206T>A (p.Phe69Tyr) n.769T>A | |
16 | g.2326124A>C | CA394352301 | ABCA3 | c.205T>G (p.Phe69Val) n.768T>G | |
16 | g.2326124A>G | CA394352303 | ABCA3 | c.205T>C (p.Phe69Leu) n.768T>C | gnomAD v4 |
16 | g.2326124A>T | CA394352306 | ABCA3 | c.205T>A (p.Phe69Ile) n.768T>A | |
16 | g.2326125G>A | CA493361822 | ABCA3 | c.204C>T (p.Phe68=) n.767C>T | |
16 | g.2326125G>C | CA394352307 | ABCA3 | c.204C>G (p.Phe68Leu) n.767C>G | |
16 | g.2326125G>T | CA394352309 | ABCA3 | c.204C>A (p.Phe68Leu) n.767C>A | |
16 | g.2326126A>C | CA394352311 | ABCA3 | c.203T>G (p.Phe68Cys) n.766T>G | |
16 | g.2326126A>G | CA394352316 | ABCA3 | c.203T>C (p.Phe68Ser) n.766T>C | |
16 | g.2326126A>T | CA394352314 | ABCA3 | c.203T>A (p.Phe68Tyr) n.766T>A | |
16 | g.2326127A>C | CA394352318 | ABCA3 | c.202T>G (p.Phe68Val) n.765T>G | |
16 | g.2326127A>G | CA394352321 | ABCA3 | c.202T>C (p.Phe68Leu) n.765T>C | |
16 | g.2326127A>T | CA394352322 | ABCA3 | c.202T>A (p.Phe68Ile) n.765T>A | |
16 | g.2326128C>A | CA493361832 | ABCA3 | c.201G>T (p.Leu67=) n.764G>T | |
16 | g.2326128C= | CA2202169061 | ABCA3 | c.201G= (p.Leu67=) n.764G= | |
16 | g.2326128C>G | CA493361834 | ABCA3 | c.201G>C (p.Leu67=) n.764G>C | dbSNP gnomAD v4 |
16 | g.2326128C>T | CA493361836 | ABCA3 | c.201G>A (p.Leu67=) n.764G>A | gnomAD v4 |
16 | g.2326129A>C | CA394352324 | ABCA3 | c.200T>G (p.Leu67Arg) n.763T>G | |
16 | g.2326129A>G | CA394352327 | ABCA3 | c.200T>C (p.Leu67Pro) n.763T>C | |
16 | g.2326129A>T | CA394352328 | ABCA3 | c.200T>A (p.Leu67Gln) n.763T>A | |
16 | g.2326130G>A | CA493361841 | ABCA3 | c.199C>T (p.Leu67=) n.762C>T | |
16 | g.2326130G>C | CA394352329 | ABCA3 | c.199C>G (p.Leu67Val) n.762C>G | |
16 | g.2326130G>T | CA394352331 | ABCA3 | c.199C>A (p.Leu67Met) n.762C>A | |
16 | g.2326131A= | CA2202169065 | ABCA3 | c.198T= (p.Pro66=) n.761T= | |
16 | g.2326131A>C | CA493361844 | ABCA3 | c.198T>G (p.Pro66=) n.761T>G | |
16 | g.2326131A>G | CA493361845 | ABCA3 | c.198T>C (p.Pro66=) n.761T>C | dbSNP |
16 | g.2326131A>T | CA493361847 | ABCA3 | c.198T>A (p.Pro66=) n.761T>A | ClinVar |
16 | g.2326132G>A | CA394352341 | ABCA3 | c.197C>T (p.Pro66Leu) n.760C>T | gnomAD v4 |
16 | g.2326132G>C | CA394352343 | ABCA3 | c.197C>G (p.Pro66Arg) n.760C>G | |
16 | g.2326132G>T | CA394352345 | ABCA3 | c.197C>A (p.Pro66His) n.760C>A | |
16 | g.2326133G>A | CA394352349 | ABCA3 | c.196C>T (p.Pro66Ser) n.759C>T | |
16 | g.2326133G>C | CA394352352 | ABCA3 | c.196C>G (p.Pro66Ala) n.759C>G | |
16 | g.2326133G>T | CA394352347 | ABCA3 | c.196C>A (p.Pro66Thr) n.759C>A | |
16 | g.2326134C>A | CA493361855 | ABCA3 | c.195G>T (p.Leu65=) n.758G>T | ClinVar gnomAD v4 |
16 | g.2326134C>G | CA493361857 | ABCA3 | c.195G>C (p.Leu65=) n.758G>C | |
16 | g.2326134C>T | CA493361859 | ABCA3 | c.195G>A (p.Leu65=) n.758G>A | |
16 | g.2326135A>C | CA394352359 | ABCA3 | c.194T>G (p.Leu65Arg) n.757T>G | |
16 | g.2326135A>G | CA394352355 | ABCA3 | c.194T>C (p.Leu65Pro) n.757T>C | |
16 | g.2326135A>T | CA394352357 | ABCA3 | c.194T>A (p.Leu65Gln) n.757T>A | |
16 | g.2326136G>A | CA493361865 | ABCA3 | c.193C>T (p.Leu65=) n.756C>T | |
16 | g.2326136G>C | CA394352361 | ABCA3 | c.193C>G (p.Leu65Val) n.756C>G | |
16 | g.2326136G>T | CA394352365 | ABCA3 | c.193C>A (p.Leu65Met) n.756C>A | |
16 | g.2326137C>A | CA394352367 | ABCA3 | c.192G>T (p.Glu64Asp) n.755G>T | |
16 | g.2326137C= | CA2202169069 | ABCA3 | c.192G= (p.Glu64=) n.755G= | |
16 | g.2326137C>G | CA7841764 | ABCA3 | c.192G>C (p.Glu64Asp) n.755G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2326137C>T | CA493361866 | ABCA3 | c.192G>A (p.Glu64=) n.755G>A | gnomAD v4 |
16 | g.2326138T>A | CA394352371 | ABCA3 | c.191A>T (p.Glu64Val) n.754A>T | |
16 | g.2326138T>C | CA394352373 | ABCA3 | c.191A>G (p.Glu64Gly) n.754A>G | |
16 | g.2326138T>G | CA10647184 | ABCA3 | c.191A>C (p.Glu64Ala) n.754A>C | ClinVar dbSNP |
16 | g.2326138T= | CA2202169077 | ABCA3 | c.191A= (p.Glu64=) n.754A= | |
16 | g.2326139C>A | CA394352376 | ABCA3 | c.190G>T (p.Glu64Ter) n.753G>T | |
16 | g.2326139C>G | CA394352378 | ABCA3 | c.190G>C (p.Glu64Gln) n.753G>C | |
16 | g.2326139C>T | CA394352379 | ABCA3 | c.190G>A (p.Glu64Lys) n.753G>A | ClinVar |
16 | g.2326140C>A | CA394352384 | ABCA3 | c.189G>T (p.Gln63His) n.752G>T | |
16 | g.2326140C>G | CA394352382 | ABCA3 | c.189G>C (p.Gln63His) n.752G>C | |
16 | g.2326140C>T | CA493361870 | ABCA3 | c.189G>A (p.Gln63=) n.752G>A | |
16 | g.2326141T>A | CA394352385 | ABCA3 | c.188A>T (p.Gln63Leu) n.751A>T | |
16 | g.2326141T>C | CA394352386 | ABCA3 | c.188A>G (p.Gln63Arg) n.751A>G | |
16 | g.2326141T>G | CA394352389 | ABCA3 | c.188A>C (p.Gln63Pro) n.751A>C | dbSNP |
16 | g.2326141T= | CA2202169084 | ABCA3 | c.188A= (p.Gln63=) n.751A= | |
16 | g.2326142G>A | CA394352391 | ABCA3 | c.187C>T (p.Gln63Ter) n.750C>T | |
16 | g.2326142G>C | CA394352392 | ABCA3 | c.187C>G (p.Gln63Glu) n.750C>G | |
16 | g.2326142G>T | CA394352394 | ABCA3 | c.187C>A (p.Gln63Lys) n.750C>A | |
16 | g.2326143G>A | CA493361873 | ABCA3 | c.186C>T (p.Ile62=) n.749C>T | |
16 | g.2326143G>C | CA394352395 | ABCA3 | c.186C>G (p.Ile62Met) n.749C>G | |
16 | g.2326143G>T | CA493361874 | ABCA3 | c.186C>A (p.Ile62=) n.749C>A | |
16 | g.2326144A= | CA2202169086 | ABCA3 | c.185T= (p.Ile62=) n.748T= | |
16 | g.2326144A>C | CA394352397 | ABCA3 | c.185T>G (p.Ile62Ser) n.748T>G | |
16 | g.2326144A>G | CA394352399 | ABCA3 | c.185T>C (p.Ile62Thr) n.748T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2326144A>T | CA394352401 | ABCA3 | c.185T>A (p.Ile62Asn) n.748T>A | |
16 | g.2326145T>A | CA394352403 | ABCA3 | c.184A>T (p.Ile62Phe) n.747A>T | |
16 | g.2326145T>C | CA394352405 | ABCA3 | c.184A>G (p.Ile62Val) n.747A>G | gnomAD v4 |
16 | g.2326145T>G | CA394352408 | ABCA3 | c.184A>C (p.Ile62Leu) n.747A>C | |
16 | g.2326146G>A | CA493361876 | ABCA3 | c.183C>T (p.Ser61=) n.746C>T | |
16 | g.2326146G>C | CA493361878 | ABCA3 | c.183C>G (p.Ser61=) n.746C>G | |
16 | g.2326146G>T | CA493361880 | ABCA3 | c.183C>A (p.Ser61=) n.746C>A | |
16 | g.2326147G>A | CA394352411 | ABCA3 | c.182C>T (p.Ser61Phe) n.745C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2326147G>C | CA394352413 | ABCA3 | c.182C>G (p.Ser61Cys) n.745C>G | ClinVar gnomAD v4 |
16 | g.2326147G= | CA2202169090 | ABCA3 | c.182C= (p.Ser61=) n.745C= | |
16 | g.2326147G>T | CA394352409 | ABCA3 | c.182C>A (p.Ser61Tyr) n.745C>A | |
16 | g.2326148A= | CA2202169093 | ABCA3 | c.181T= (p.Ser61=) n.744T= | |
16 | g.2326148A>C | CA394352414 | ABCA3 | c.181T>G (p.Ser61Ala) n.744T>G | |
16 | g.2326148A>G | CA394352416 | ABCA3 | c.181T>C (p.Ser61Pro) n.744T>C | |
16 | g.2326148A>T | CA394352418 | ABCA3 | c.181T>A (p.Ser61Thr) n.744T>A | dbSNP gnomAD v4 |
16 | g.2326149C>A | CA394352421 | ABCA3 | c.180G>T (p.Gln60His) n.743G>T | |
16 | g.2326149C>G | CA394352423 | ABCA3 | c.180G>C (p.Gln60His) n.743G>C | gnomAD v4 |
16 | g.2326149C>T | CA493361883 | ABCA3 | c.180G>A (p.Gln60=) n.743G>A | ClinVar gnomAD v4 |
16 | g.2326150T>A | CA394352432 | ABCA3 | c.179A>T (p.Gln60Leu) n.742A>T | |
16 | g.2326150T>C | CA394352430 | ABCA3 | c.179A>G (p.Gln60Arg) n.742A>G | |
16 | g.2326150T>G | CA394352427 | ABCA3 | c.179A>C (p.Gln60Pro) n.742A>C | |
16 | g.2326151G>A | CA394352435 | ABCA3 | c.178C>T (p.Gln60Ter) n.741C>T | |
16 | g.2326151G>C | CA394352436 | ABCA3 | c.178C>G (p.Gln60Glu) n.741C>G | gnomAD v4 |
16 | g.2326151G>T | CA394352439 | ABCA3 | c.178C>A (p.Gln60Lys) n.741C>A | |
16 | g.2326152G>A | CA493361885 | ABCA3 | c.177C>T (p.Gly59=) n.740C>T | |
16 | g.2326152G>C | CA493361886 | ABCA3 | c.177C>G (p.Gly59=) n.740C>G | ClinVar |
16 | g.2326152G>T | CA493361887 | ABCA3 | c.177C>A (p.Gly59=) n.740C>A | |
16 | g.2326153C>A | CA394352441 | ABCA3 | c.176G>T (p.Gly59Val) n.739G>T | |
16 | g.2326153C>G | CA394352443 | ABCA3 | c.176G>C (p.Gly59Ala) n.739G>C | |
16 | g.2326153C>T | CA394352445 | ABCA3 | c.176G>A (p.Gly59Asp) n.739G>A | |
16 | g.2326154C>A | CA394352446 | ABCA3 | c.175G>T (p.Gly59Cys) n.738G>T | |
16 | g.2326154C>G | CA394352450 | ABCA3 | c.175G>C (p.Gly59Arg) n.738G>C | |
16 | g.2326154C>T | CA394352447 | ABCA3 | c.175G>A (p.Gly59Ser) n.738G>A | |
16 | g.2326155C>A | CA7841765 | ABCA3 | c.174G>T (p.Pro58=) n.737G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326155C= | CA2202169096 | ABCA3 | c.174G= (p.Pro58=) n.737G= | |
16 | g.2326155C>G | CA493361890 | ABCA3 | c.174G>C (p.Pro58=) n.737G>C | gnomAD v4 |
16 | g.2326155C>T | CA7841766 | ABCA3 | c.174G>A (p.Pro58=) n.737G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326156G>A | CA7841767 | ABCA3 | c.173C>T (p.Pro58Leu) n.736C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326156G>C | CA394352458 | ABCA3 | c.173C>G (p.Pro58Arg) n.736C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326156G= | CA2202169099 | ABCA3 | c.173C= (p.Pro58=) n.736C= | |
16 | g.2326156G>T | CA394352460 | ABCA3 | c.173C>A (p.Pro58Gln) n.736C>A | gnomAD v4 |
16 | g.2326157G>A | CA394352463 | ABCA3 | c.172C>T (p.Pro58Ser) n.735C>T | |
16 | g.2326157G>C | CA394352465 | ABCA3 | c.172C>G (p.Pro58Ala) n.735C>G | |
16 | g.2326157G>T | CA394352466 | ABCA3 | c.172C>A (p.Pro58Thr) n.735C>A | |
16 | g.2326158G>A | CA493361892 | ABCA3 | c.171C>T (p.Tyr57=) n.734C>T | gnomAD v4 |
16 | g.2326158G>C | CA394352468 | ABCA3 | c.171C>G (p.Tyr57Ter) n.734C>G | |
16 | g.2326158G>T | CA394352470 | ABCA3 | c.171C>A (p.Tyr57Ter) n.734C>A | |
16 | g.2326159T>A | CA394352473 | ABCA3 | c.170A>T (p.Tyr57Phe) n.733A>T | |
16 | g.2326159T>C | CA394352475 | ABCA3 | c.170A>G (p.Tyr57Cys) n.733A>G | dbSNP |
16 | g.2326159T>G | CA394352477 | ABCA3 | c.170A>C (p.Tyr57Ser) n.733A>C | dbSNP |
16 | g.2326159T= | CA2202169101 | ABCA3 | c.170A= (p.Tyr57=) n.733A= | |
16 | g.2326160A>C | CA394352481 | ABCA3 | c.169T>G (p.Tyr57Asp) n.732T>G | |
16 | g.2326160A>G | CA394352484 | ABCA3 | c.169T>C (p.Tyr57His) n.732T>C | |
16 | g.2326160A>T | CA394352480 | ABCA3 | c.169T>A (p.Tyr57Asn) n.732T>A | |
16 | g.2326160_2326162del | CA2631191207 | ABCA3 | c.167_169del (p.Ile56_Tyr57delinsAsn) n.730_732del | gnomAD v4 |
16 | g.2326161G>A | CA7841768 | ABCA3 | c.168C>T (p.Ile56=) n.731C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326161G>C | CA394352487 | ABCA3 | c.168C>G (p.Ile56Met) n.731C>G | |
16 | g.2326161G= | CA2202169105 | ABCA3 | c.168C= (p.Ile56=) n.731C= | |
16 | g.2326161G>T | CA493361894 | ABCA3 | c.168C>A (p.Ile56=) n.731C>A | |
16 | g.2326162A= | CA2202169108 | ABCA3 | c.167T= (p.Ile56=) n.730T= | |
16 | g.2326162A>C | CA394352494 | ABCA3 | c.167T>G (p.Ile56Ser) n.730T>G | dbSNP gnomAD v4 |
16 | g.2326162A>G | CA394352492 | ABCA3 | c.167T>C (p.Ile56Thr) n.730T>C | |
16 | g.2326162A>T | CA394352495 | ABCA3 | c.167T>A (p.Ile56Asn) n.730T>A | |
16 | g.2326163T>A | CA394352498 | ABCA3 | c.166A>T (p.Ile56Phe) n.729A>T | |
16 | g.2326163T>C | CA7841769 | ABCA3 | c.166A>G (p.Ile56Val) n.729A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2326163T>G | CA394352502 | ABCA3 | c.166A>C (p.Ile56Leu) n.729A>C | |
16 | g.2326163T= | CA2202169112 | ABCA3 | c.166A= (p.Ile56=) n.729A= | |
16 | g.2326164G>A | CA493361897 | ABCA3 | c.165C>T (p.Thr55=) n.728C>T | dbSNP gnomAD v4 |
16 | g.2326164G>C | CA493361898 | ABCA3 | c.165C>G (p.Thr55=) n.728C>G | |
16 | g.2326164G= | CA2202169115 | ABCA3 | c.165C= (p.Thr55=) n.728C= | |
16 | g.2326164G>T | CA493361899 | ABCA3 | c.165C>A (p.Thr55=) n.728C>A | |
16 | g.2326165G>A | CA394352504 | ABCA3 | c.164C>T (p.Thr55Ile) n.727C>T | gnomAD v4 |
16 | g.2326165G>C | CA394352505 | ABCA3 | c.164C>G (p.Thr55Ser) n.727C>G | |
16 | g.2326165G>T | CA394352507 | ABCA3 | c.164C>A (p.Thr55Asn) n.727C>A | |
16 | g.2326166T>A | CA394352510 | ABCA3 | c.163A>T (p.Thr55Ser) n.726A>T | |
16 | g.2326166T>C | CA394352511 | ABCA3 | c.163A>G (p.Thr55Ala) n.726A>G | gnomAD v4 |
16 | g.2326166T>G | CA394352512 | ABCA3 | c.163A>C (p.Thr55Pro) n.726A>C | dbSNP |
16 | g.2326166T= | CA2202169118 | ABCA3 | c.163A= (p.Thr55=) n.726A= | |
16 | g.2326167G>A | CA493361901 | ABCA3 | c.162C>T (p.Ala54=) n.725C>T | dbSNP gnomAD v4 COSMIC |
16 | g.2326167G>C | CA493361902 | ABCA3 | c.162C>G (p.Ala54=) n.725C>G | |
16 | g.2326167G= | CA2202169123 | ABCA3 | c.162C= (p.Ala54=) n.725C= | |
16 | g.2326167G>T | CA493361903 | ABCA3 | c.162C>A (p.Ala54=) n.725C>A | |
16 | g.2326168G>A | CA7841770 | ABCA3 | c.161C>T (p.Ala54Val) n.724C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2326168G>C | CA394352516 | ABCA3 | c.161C>G (p.Ala54Gly) n.724C>G | |
16 | g.2326168G= | CA2202169126 | ABCA3 | c.161C= (p.Ala54=) n.724C= | |
16 | g.2326168G>T | CA394352518 | ABCA3 | c.161C>A (p.Ala54Asp) n.724C>A | |
16 | g.2326169C>A | CA394352521 | ABCA3 | c.160G>T (p.Ala54Ser) n.723G>T | |
16 | g.2326169C= | CA2202169132 | ABCA3 | c.160G= (p.Ala54=) n.723G= | |
16 | g.2326169C>G | CA394352523 | ABCA3 | c.160G>C (p.Ala54Pro) n.723G>C | ClinVar |
16 | g.2326169C>T | CA7841771 | ABCA3 | c.160G>A (p.Ala54Thr) n.723G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326170G>A | CA7841772 | ABCA3 | c.159C>T (p.Asn53=) n.722C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2326170G>C | CA394352530 | ABCA3 | c.159C>G (p.Asn53Lys) n.722C>G | COSMIC |
16 | g.2326170G= | CA2202169137 | ABCA3 | c.159C= (p.Asn53=) n.722C= | |
16 | g.2326170G>T | CA394352529 | ABCA3 | c.159C>A (p.Asn53Lys) n.722C>A | |
16 | g.2326171T>A | CA394352533 | ABCA3 | c.158A>T (p.Asn53Ile) n.721A>T | |
16 | g.2326171T>C | CA276853835 | ABCA3 | c.158A>G (p.Asn53Ser) n.721A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2326171T>G | CA394352534 | ABCA3 | c.158A>C (p.Asn53Thr) n.721A>C | gnomAD v4 |
16 | g.2326171T= | CA2202169140 | ABCA3 | c.158A= (p.Asn53=) n.721A= | |
16 | g.2326172T>A | CA394352536 | ABCA3 | c.157A>T (p.Asn53Tyr) n.720A>T | |
16 | g.2326172T>C | CA394352539 | ABCA3 | c.157A>G (p.Asn53Asp) n.720A>G | |
16 | g.2326172T>G | CA394352543 | ABCA3 | c.157A>C (p.Asn53His) n.720A>C | |
16 | g.2326173G>A | CA493361904 | ABCA3 | c.156C>T (p.Pro52=) n.719C>T | gnomAD v4 |
16 | g.2326173G>C | CA493361905 | ABCA3 | c.156C>G (p.Pro52=) n.719C>G | |
16 | g.2326173G>T | CA493361906 | ABCA3 | c.156C>A (p.Pro52=) n.719C>A | gnomAD v4 |
16 | g.2326174G>A | CA7841773 | ABCA3 | c.155C>T (p.Pro52Leu) n.718C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2326174G>C | CA394352546 | ABCA3 | c.155C>G (p.Pro52Arg) n.718C>G | dbSNP |
16 | g.2326174G= | CA2202169143 | ABCA3 | c.155C= (p.Pro52=) n.718C= | |
16 | g.2326174G>T | CA394352548 | ABCA3 | c.155C>A (p.Pro52His) n.718C>A | |
16 | g.2326175G>A | CA394352556 | ABCA3 | c.154C>T (p.Pro52Ser) n.717C>T | |
16 | g.2326175G>C | CA394352554 | ABCA3 | c.154C>G (p.Pro52Ala) n.717C>G | |
16 | g.2326175G= | CA2202169148 | ABCA3 | c.154C= (p.Pro52=) n.717C= | |
16 | g.2326175G>T | CA394352551 | ABCA3 | c.154C>A (p.Pro52Thr) n.717C>A | dbSNP |
16 | g.2326176C>A | CA7841774 | ABCA3 | c.153G>T (p.Val51=) n.716G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2326176C= | CA2202169150 | ABCA3 | c.153G= (p.Val51=) n.716G= | |
16 | g.2326176C>G | CA493361907 | ABCA3 | c.153G>C (p.Val51=) n.716G>C | |
16 | g.2326176C>T | CA493361908 | ABCA3 | c.153G>A (p.Val51=) n.716G>A | ClinVar |
16 | g.2326177A>C | CA394352560 | ABCA3 | c.152T>G (p.Val51Gly) n.715T>G | |
16 | g.2326177A>G | CA394352563 | ABCA3 | c.152T>C (p.Val51Ala) n.715T>C | |
16 | g.2326177A>T | CA394352568 | ABCA3 | c.152T>A (p.Val51Glu) n.715T>A | |
16 | g.2326178C>A | CA394352570 | ABCA3 | c.151G>T (p.Val51Leu) n.714G>T | |
16 | g.2326178C>G | CA394352572 | ABCA3 | c.151G>C (p.Val51Leu) n.714G>C | |
16 | g.2326178C>T | CA394352575 | ABCA3 | c.151G>A (p.Val51Met) n.714G>A | gnomAD v4 |
16 | g.2326179A>C | CA394352577 | ABCA3 | c.150T>G (p.Asn50Lys) n.713T>G | |
16 | g.2326179A>G | CA493361909 | ABCA3 | c.150T>C (p.Asn50=) n.713T>C | |
16 | g.2326179A>T | CA394352580 | ABCA3 | c.150T>A (p.Asn50Lys) n.713T>A | |
16 | g.2326180T>A | CA394352585 | ABCA3 | c.149A>T (p.Asn50Ile) n.712A>T | |
16 | g.2326180T>C | CA276853844 | ABCA3 | c.149A>G (p.Asn50Ser) n.712A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2326180T>G | CA394352588 | ABCA3 | c.149A>C (p.Asn50Thr) n.712A>C | |
16 | g.2326180T= | CA2202169153 | ABCA3 | c.149A= (p.Asn50=) n.712A= | |
16 | g.2326181T>A | CA394352598 | ABCA3 | c.148A>T (p.Asn50Tyr) n.711A>T | |
16 | g.2326181T>C | CA394352592 | ABCA3 | c.148A>G (p.Asn50Asp) n.711A>G | gnomAD v4 |
16 | g.2326181T>G | CA394352596 | ABCA3 | c.148A>C (p.Asn50His) n.711A>C | |
16 | g.2326182T>A | CA394352601 | ABCA3 | c.147A>T (p.Glu49Asp) n.710A>T | |
16 | g.2326182T>C | CA493361910 | ABCA3 | c.147A>G (p.Glu49=) n.710A>G | |
16 | g.2326182T>G | CA394352604 | ABCA3 | c.147A>C (p.Glu49Asp) n.710A>C | |
16 | g.2326183T>A | CA394352605 | ABCA3 | c.146A>T (p.Glu49Val) n.709A>T | |
16 | g.2326183T>C | CA394352609 | ABCA3 | c.146A>G (p.Glu49Gly) n.709A>G | |
16 | g.2326183T>G | CA394352610 | ABCA3 | c.146A>C (p.Glu49Ala) n.709A>C | |
16 | g.2326184C>A | CA394352612 | ABCA3 | c.145G>T (p.Glu49Ter) n.708G>T | |
16 | g.2326184C>G | CA394352613 | ABCA3 | c.145G>C (p.Glu49Gln) n.708G>C | |
16 | g.2326184C>T | CA394352615 | ABCA3 | c.145G>A (p.Glu49Lys) n.708G>A | COSMIC |
16 | g.2326185C>A | CA493361912 | ABCA3 | c.144G>T (p.Ser48=) n.707G>T | |
16 | g.2326185C= | CA2202169158 | ABCA3 | c.144G= (p.Ser48=) n.707G= | |
16 | g.2326185C>G | CA493361911 | ABCA3 | c.144G>C (p.Ser48=) n.707G>C | |
16 | g.2326185C>T | CA7841775 | ABCA3 | c.144G>A (p.Ser48=) n.707G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326186G>A | CA7841776 | ABCA3 | c.143C>T (p.Ser48Leu) n.706C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326186G>C | CA394352619 | ABCA3 | c.143C>G (p.Ser48Trp) n.706C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2326186G= | CA2202169165 | ABCA3 | c.143C= (p.Ser48=) n.706C= | |
16 | g.2326186G>T | CA394352621 | ABCA3 | c.143C>A (p.Ser48Ter) n.706C>A | ClinVar gnomAD v4 |
16 | g.2326186_2326198delinsGACTGAATCTTCA | CA2202169164 | ABCA3 | c.131_143delinsTGAAGATTCAGTC (p.Leu44=) n.694_706delinsTGAAGATTCAGTC | |
16 | g.2326187A= | CA2202169171 | ABCA3 | c.142T= (p.Ser48=) n.705T= | |
16 | g.2326187A>C | CA394352623 | ABCA3 | c.142T>G (p.Ser48Ala) n.705T>G | |
16 | g.2326187A>G | CA7841777 | ABCA3 | c.142T>C (p.Ser48Pro) n.705T>C | dbSNP ExAC gnomAD v2 |
16 | g.2326187A>T | CA394352622 | ABCA3 | c.142T>A (p.Ser48Thr) n.705T>A | |
16 | g.2326188_2326199del | CA719179689 | ABCA3 | c.131_142del (p.Leu44_Gln47del) n.694_705del | dbSNP |
16 | g.2326188C>A | CA394352624 | ABCA3 | c.141G>T (p.Gln47His) n.704G>T | |
16 | g.2326188C>G | CA394352625 | ABCA3 | c.141G>C (p.Gln47His) n.704G>C | |
16 | g.2326188C>T | CA493361913 | ABCA3 | c.141G>A (p.Gln47=) n.704G>A | |
16 | g.2326189T>A | CA276853851 | ABCA3 | c.140A>T (p.Gln47Leu) n.703A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326189T>C | CA394352627 | ABCA3 | c.140A>G (p.Gln47Arg) n.703A>G | dbSNP gnomAD v4 |
16 | g.2326189T>G | CA394352628 | ABCA3 | c.140A>C (p.Gln47Pro) n.703A>C | |
16 | g.2326189T= | CA2202169175 | ABCA3 | c.140A= (p.Gln47=) n.703A= | |
16 | g.2326189_2326190del | CA645596761 | ABCA3 | c.139_140del (p.Gln47ValfsTer?) n.702_703del | COSMIC |
16 | g.2326190G>A | CA394352629 | ABCA3 | c.139C>T (p.Gln47Ter) n.702C>T | |
16 | g.2326190G>C | CA394352631 | ABCA3 | c.139C>G (p.Gln47Glu) n.702C>G | |
16 | g.2326190G>T | CA394352633 | ABCA3 | c.139C>A (p.Gln47Lys) n.702C>A | |
16 | g.2326191A= | CA2202169178 | ABCA3 | c.138T= (p.Ile46=) n.701T= | |
16 | g.2326191A>C | CA394352634 | ABCA3 | c.138T>G (p.Ile46Met) n.701T>G | gnomAD v4 |
16 | g.2326191A>G | CA493361914 | ABCA3 | c.138T>C (p.Ile46=) n.701T>C | dbSNP gnomAD v4 |
16 | g.2326191A>T | CA493361915 | ABCA3 | c.138T>A (p.Ile46=) n.701T>A | |
16 | g.2326192A>C | CA394352635 | ABCA3 | c.137T>G (p.Ile46Ser) n.700T>G | gnomAD v4 |
16 | g.2326192A>G | CA394352636 | ABCA3 | c.137T>C (p.Ile46Thr) n.700T>C | |
16 | g.2326192A>T | CA394352642 | ABCA3 | c.137T>A (p.Ile46Asn) n.700T>A | |
16 | g.2326193T>A | CA394352644 | ABCA3 | c.136A>T (p.Ile46Phe) n.699A>T | dbSNP gnomAD v4 |
16 | g.2326193T>C | CA7841778 | ABCA3 | c.136A>G (p.Ile46Val) n.699A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2326193T>G | CA394352655 | ABCA3 | c.136A>C (p.Ile46Leu) n.699A>C | |
16 | g.2326193T= | CA2202169182 | ABCA3 | c.136A= (p.Ile46=) n.699A= | |
16 | g.2326194C>A | CA394352657 | ABCA3 | c.135G>T (p.Lys45Asn) n.698G>T | |
16 | g.2326194C>G | CA394352659 | ABCA3 | c.135G>C (p.Lys45Asn) n.698G>C | |
16 | g.2326194C>T | CA493361916 | ABCA3 | c.135G>A (p.Lys45=) n.698G>A | |
16 | g.2326195T>A | CA394352662 | ABCA3 | c.134A>T (p.Lys45Met) n.697A>T | |
16 | g.2326195T>C | CA394352663 | ABCA3 | c.134A>G (p.Lys45Arg) n.697A>G | |
16 | g.2326195T>G | CA394352665 | ABCA3 | c.134A>C (p.Lys45Thr) n.697A>C | |
16 | g.2326196T>A | CA394352667 | ABCA3 | c.133A>T (p.Lys45Ter) n.696A>T | |
16 | g.2326196T>C | CA394352669 | ABCA3 | c.133A>G (p.Lys45Glu) n.696A>G | |
16 | g.2326196T>G | CA394352670 | ABCA3 | c.133A>C (p.Lys45Gln) n.696A>C | |
16 | g.2326197C>A | CA394352671 | ABCA3 | c.132G>T (p.Leu44Phe) n.695G>T | |
16 | g.2326197C>G | CA394352672 | ABCA3 | c.132G>C (p.Leu44Phe) n.695G>C | |
16 | g.2326197C>T | CA493361917 | ABCA3 | c.132G>A (p.Leu44=) n.695G>A | COSMIC |
16 | g.2326198A>C | CA394352673 | ABCA3 | c.131T>G (p.Leu44Trp) n.694T>G | gnomAD v4 |
16 | g.2326198A>G | CA394352675 | ABCA3 | c.131T>C (p.Leu44Ser) n.694T>C | |
16 | g.2326198A>T | CA394352676 | ABCA3 | c.131T>A (p.Leu44Ter) n.694T>A | |
16 | g.2326199A= | CA2202169186 | ABCA3 | c.130T= (p.Leu44=) n.693T= | |
16 | g.2326199A>C | CA394352678 | ABCA3 | c.130T>G (p.Leu44Val) n.693T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2326199A>G | CA493361918 | ABCA3 | c.130T>C (p.Leu44=) n.693T>C | gnomAD v4 |
16 | g.2326199A>T | CA394352681 | ABCA3 | c.130T>A (p.Leu44Met) n.693T>A | dbSNP gnomAD v4 |
16 | g.2326200G>A | CA493361919 | ABCA3 | c.129C>T (p.Arg43=) n.692C>T | |
16 | g.2326200G>C | CA493361920 | ABCA3 | c.129C>G (p.Arg43=) n.692C>G | |
16 | g.2326200G>T | CA493361921 | ABCA3 | c.129C>A (p.Arg43=) n.692C>A | |
16 | g.2326201C>A | CA394352683 | ABCA3 | c.128G>T (p.Arg43Leu) n.691G>T | |
16 | g.2326201C= | CA2202169190 | ABCA3 | c.128G= (p.Arg43=) n.691G= | |
16 | g.2326201C>G | CA394352685 | ABCA3 | c.128G>C (p.Arg43Pro) n.691G>C | dbSNP |
16 | g.2326201C>T | CA7841779 | ABCA3 | c.128G>A (p.Arg43His) n.691G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326202G>A | CA7841780 | ABCA3 | c.127C>T (p.Arg43Cys) n.690C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2326202G>C | CA394352688 | ABCA3 | c.127C>G (p.Arg43Gly) n.690C>G | |
16 | g.2326202G= | CA2202169195 | ABCA3 | c.127C= (p.Arg43=) n.690C= | |
16 | g.2326202G>T | CA394352693 | ABCA3 | c.127C>A (p.Arg43Ser) n.690C>A | gnomAD v4 |
16 | g.2326203G>A | CA493361922 | ABCA3 | c.126C>T (p.Leu42=) n.689C>T | dbSNP gnomAD v4 |
16 | g.2326203G>C | CA493361923 | ABCA3 | c.126C>G (p.Leu42=) n.689C>G | |
16 | g.2326203G= | CA2202169199 | ABCA3 | c.126C= (p.Leu42=) n.689C= | |
16 | g.2326203G>T | CA493361924 | ABCA3 | c.126C>A (p.Leu42=) n.689C>A | |
16 | g.2326204A>C | CA394352696 | ABCA3 | c.125T>G (p.Leu42Arg) n.688T>G | |
16 | g.2326204A>G | CA394352697 | ABCA3 | c.125T>C (p.Leu42Pro) n.688T>C | |
16 | g.2326204A>T | CA394352700 | ABCA3 | c.125T>A (p.Leu42His) n.688T>A | |
16 | g.2326205G>A | CA394352703 | ABCA3 | c.124C>T (p.Leu42Phe) n.687C>T | gnomAD v4 |
16 | g.2326205G>C | CA394352713 | ABCA3 | c.124C>G (p.Leu42Val) n.687C>G | |
16 | g.2326205G>T | CA394352717 | ABCA3 | c.124C>A (p.Leu42Ile) n.687C>A | |
16 | g.2326206C>A | CA394352722 | ABCA3 | c.123G>T (p.Trp41Cys) n.686G>T | gnomAD v4 |
16 | g.2326206C>G | CA394352725 | ABCA3 | c.123G>C (p.Trp41Cys) n.686G>C | gnomAD v4 |
16 | g.2326206C>T | CA394352729 | ABCA3 | c.123G>A (p.Trp41Ter) n.686G>A | gnomAD v4 |
16 | g.2326207C>A | CA394352742 | ABCA3 | c.122G>T (p.Trp41Leu) n.685G>T | |
16 | g.2326207C>G | CA394352741 | ABCA3 | c.122G>C (p.Trp41Ser) n.685G>C | |
16 | g.2326207C>T | CA394352731 | ABCA3 | c.122G>A (p.Trp41Ter) n.685G>A | |
16 | g.2326208A>C | CA394352743 | ABCA3 | c.121T>G (p.Trp41Gly) n.684T>G | |
16 | g.2326208A>G | CA394352744 | ABCA3 | c.121T>C (p.Trp41Arg) n.684T>C | |
16 | g.2326208A>T | CA394352745 | ABCA3 | c.121T>A (p.Trp41Arg) n.684T>A | |
16 | g.2326209G>A | CA493361926 | ABCA3 | c.120C>T (p.Ile40=) n.683C>T | |
16 | g.2326209G>C | CA394352748 | ABCA3 | c.120C>G (p.Ile40Met) n.683C>G | dbSNP gnomAD v4 |
16 | g.2326209G= | CA2202169201 | ABCA3 | c.120C= (p.Ile40=) n.683C= | |
16 | g.2326209G>T | CA493361925 | ABCA3 | c.120C>A (p.Ile40=) n.683C>A | |
16 | g.2326210A= | CA2202169202 | ABCA3 | c.119T= (p.Ile40=) n.682T= | |
16 | g.2326210A>C | CA394352753 | ABCA3 | c.119T>G (p.Ile40Ser) n.682T>G | gnomAD v4 |
16 | g.2326210A>G | CA394352756 | ABCA3 | c.119T>C (p.Ile40Thr) n.682T>C | dbSNP gnomAD v2 |
16 | g.2326210A>T | CA394352759 | ABCA3 | c.119T>A (p.Ile40Asn) n.682T>A | |
16 | g.2326211T>A | CA394352762 | ABCA3 | c.118A>T (p.Ile40Phe) n.681A>T | |
16 | g.2326211T>C | CA394352764 | ABCA3 | c.118A>G (p.Ile40Val) n.681A>G | |
16 | g.2326211T>G | CA394352766 | ABCA3 | c.118A>C (p.Ile40Leu) n.681A>C | |
16 | g.2326212G>A | CA493361927 | ABCA3 | c.117C>T (p.Leu39=) n.680C>T | dbSNP gnomAD v4 |
16 | g.2326212G>C | CA493361929 | ABCA3 | c.117C>G (p.Leu39=) n.680C>G | |
16 | g.2326212G= | CA2202169203 | ABCA3 | c.117C= (p.Leu39=) n.680C= | |
16 | g.2326212G>T | CA493361928 | ABCA3 | c.117C>A (p.Leu39=) n.680C>A |