| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2285499C>A | CA394316613 | ABCA3 | c.3426G>T (p.Trp1142Cys) c.3252G>T (p.Trp1084Cys) | |
| 16 | g.2285499C= | CA2202149733 | ABCA3 | c.3426G= (p.Trp1142=) c.3252G= (p.Trp1084=) | |
| 16 | g.2285499C>G | CA394316614 | ABCA3 | c.3426G>C (p.Trp1142Cys) c.3252G>C (p.Trp1084Cys) | gnomAD v4 |
| 16 | g.2285499C>T | CA119212 | ABCA3 | c.3426G>A (p.Trp1142Ter) c.3252G>A (p.Trp1084Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2285500C>A | CA394316615 | ABCA3 | c.3425G>T (p.Trp1142Leu) c.3251G>T (p.Trp1084Leu) | |
| 16 | g.2285500C= | CA2202149734 | ABCA3 | c.3425G= (p.Trp1142=) c.3251G= (p.Trp1084=) | |
| 16 | g.2285500C>G | CA394316616 | ABCA3 | c.3425G>C (p.Trp1142Ser) c.3251G>C (p.Trp1084Ser) | |
| 16 | g.2285500C>T | CA394316617 | ABCA3 | c.3425G>A (p.Trp1142Ter) c.3251G>A (p.Trp1084Ter) | dbSNP gnomAD v2 |
| 16 | g.2285501A= | CA2202149735 | ABCA3 | c.3424T= (p.Trp1142=) c.3250T= (p.Trp1084=) | |
| 16 | g.2285501A>C | CA394316618 | ABCA3 | c.3424T>G (p.Trp1142Gly) c.3250T>G (p.Trp1084Gly) | |
| 16 | g.2285501A>G | CA394316620 | ABCA3 | c.3424T>C (p.Trp1142Arg) c.3250T>C (p.Trp1084Arg) | |
| 16 | g.2285501A>T | CA394316619 | ABCA3 | c.3424T>A (p.Trp1142Arg) c.3250T>A (p.Trp1084Arg) | dbSNP |
| 16 | g.2285502G>A | CA493124499 | ABCA3 | c.3423C>T (p.Phe1141=) c.3249C>T (p.Phe1083=) | |
| 16 | g.2285502G>C | CA394316621 | ABCA3 | c.3423C>G (p.Phe1141Leu) c.3249C>G (p.Phe1083Leu) | |
| 16 | g.2285502G>T | CA394316622 | ABCA3 | c.3423C>A (p.Phe1141Leu) c.3249C>A (p.Phe1083Leu) | |
| 16 | g.2285503A>C | CA394316623 | ABCA3 | c.3422T>G (p.Phe1141Cys) c.3248T>G (p.Phe1083Cys) | |
| 16 | g.2285503A>G | CA394316624 | ABCA3 | c.3422T>C (p.Phe1141Ser) c.3248T>C (p.Phe1083Ser) | |
| 16 | g.2285503A>T | CA394316625 | ABCA3 | c.3422T>A (p.Phe1141Tyr) c.3248T>A (p.Phe1083Tyr) | |
| 16 | g.2285504A>C | CA394316627 | ABCA3 | c.3421T>G (p.Phe1141Val) c.3247T>G (p.Phe1083Val) | |
| 16 | g.2285504A>G | CA394316629 | ABCA3 | c.3421T>C (p.Phe1141Leu) c.3247T>C (p.Phe1083Leu) | |
| 16 | g.2285504A>T | CA394316631 | ABCA3 | c.3421T>A (p.Phe1141Ile) c.3247T>A (p.Phe1083Ile) | gnomAD v4 |
| 16 | g.2285505A>C | CA394316634 | ABCA3 | c.3420T>G (p.Ser1140Arg) c.3246T>G (p.Ser1082Arg) | |
| 16 | g.2285505A>G | CA493124557 | ABCA3 | c.3420T>C (p.Ser1140=) c.3246T>C (p.Ser1082=) | |
| 16 | g.2285505A>T | CA394316635 | ABCA3 | c.3420T>A (p.Ser1140Arg) c.3246T>A (p.Ser1082Arg) | |
| 16 | g.2285506C>A | CA394316637 | ABCA3 | c.3419G>T (p.Ser1140Ile) c.3245G>T (p.Ser1082Ile) | |
| 16 | g.2285506C= | CA2202149736 | ABCA3 | c.3419G= (p.Ser1140=) c.3245G= (p.Ser1082=) | |
| 16 | g.2285506C>G | CA394316640 | ABCA3 | c.3419G>C (p.Ser1140Thr) c.3245G>C (p.Ser1082Thr) | |
| 16 | g.2285506C>T | CA276822628 | ABCA3 | c.3419G>A (p.Ser1140Asn) c.3245G>A (p.Ser1082Asn) | dbSNP gnomAD v4 |
| 16 | g.2285507T>A | CA394316641 | ABCA3 | c.3418A>T (p.Ser1140Cys) c.3244A>T (p.Ser1082Cys) | |
| 16 | g.2285507T>C | CA394316645 | ABCA3 | c.3418A>G (p.Ser1140Gly) c.3244A>G (p.Ser1082Gly) | |
| 16 | g.2285507T>G | CA394316643 | ABCA3 | c.3418A>C (p.Ser1140Arg) c.3244A>C (p.Ser1082Arg) | |
| 16 | g.2285508G>A | CA493124582 | ABCA3 | c.3417C>T (p.Ala1139=) c.3243C>T (p.Ala1081=) | |
| 16 | g.2285508G>C | CA493124586 | ABCA3 | c.3417C>G (p.Ala1139=) c.3243C>G (p.Ala1081=) | |
| 16 | g.2285508G>T | CA493124589 | ABCA3 | c.3417C>A (p.Ala1139=) c.3243C>A (p.Ala1081=) | |
| 16 | g.2285509G>A | CA394316648 | ABCA3 | c.3416C>T (p.Ala1139Val) c.3242C>T (p.Ala1081Val) | gnomAD v4 |
| 16 | g.2285509G>C | CA394316650 | ABCA3 | c.3416C>G (p.Ala1139Gly) c.3242C>G (p.Ala1081Gly) | |
| 16 | g.2285509G>T | CA394316651 | ABCA3 | c.3416C>A (p.Ala1139Asp) c.3242C>A (p.Ala1081Asp) | |
| 16 | g.2285510C>A | CA7840516 | ABCA3 | c.3415G>T (p.Ala1139Ser) c.3241G>T (p.Ala1081Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2285510C= | CA2202149737 | ABCA3 | c.3415G= (p.Ala1139=) c.3241G= (p.Ala1081=) | |
| 16 | g.2285510C>G | CA394316654 | ABCA3 | c.3415G>C (p.Ala1139Pro) c.3241G>C (p.Ala1081Pro) | |
| 16 | g.2285510C>T | CA394316656 | ABCA3 | c.3415G>A (p.Ala1139Thr) c.3241G>A (p.Ala1081Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2285511C>A | CA493124621 | ABCA3 | c.3414G>T (p.Val1138=) c.3240G>T (p.Val1080=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2285511C= | CA2202149738 | ABCA3 | c.3414G= (p.Val1138=) c.3240G= (p.Val1080=) | |
| 16 | g.2285511C>G | CA493124625 | ABCA3 | c.3414G>C (p.Val1138=) c.3240G>C (p.Val1080=) | |
| 16 | g.2285511C>T | CA493124627 | ABCA3 | c.3414G>A (p.Val1138=) c.3240G>A (p.Val1080=) | |
| 16 | g.2285512A>C | CA394316658 | ABCA3 | c.3413T>G (p.Val1138Gly) c.3239T>G (p.Val1080Gly) | |
| 16 | g.2285512A>G | CA394316661 | ABCA3 | c.3413T>C (p.Val1138Ala) c.3239T>C (p.Val1080Ala) | |
| 16 | g.2285512A>T | CA394316662 | ABCA3 | c.3413T>A (p.Val1138Glu) c.3239T>A (p.Val1080Glu) | |
| 16 | g.2285513C>A | CA394316667 | ABCA3 | c.3412G>T (p.Val1138Leu) c.3238G>T (p.Val1080Leu) | |
| 16 | g.2285513C= | CA2202149739 | ABCA3 | c.3412G= (p.Val1138=) c.3238G= (p.Val1080=) |