UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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=) | |
| 16 | g.2285513C>G | CA394316665 | ABCA3 | c.3412G>C (p.Val1138Leu) c.3238G>C (p.Val1080Leu) | gnomAD v4 |
| 16 | g.2285513C>T | CA7840517 | ABCA3 | c.3412G>A (p.Val1138Met) c.3238G>A (p.Val1080Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285514G>A | CA7840518 | ABCA3 | c.3411C>T (p.His1137=) c.3237C>T (p.His1079=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2285514G>C | CA394316672 | ABCA3 | c.3411C>G (p.His1137Gln) c.3237C>G (p.His1079Gln) | |
| 16 | g.2285514G= | CA2202149740 | ABCA3 | c.3411C= (p.His1137=) c.3237C= (p.His1079=) | |
| 16 | g.2285514G>T | CA394316670 | ABCA3 | c.3411C>A (p.His1137Gln) c.3237C>A (p.His1079Gln) | |
| 16 | g.2285515T>A | CA394316680 | ABCA3 | c.3410A>T (p.His1137Leu) c.3236A>T (p.His1079Leu) | |
| 16 | g.2285515T>C | CA394316682 | ABCA3 | c.3410A>G (p.His1137Arg) c.3236A>G (p.His1079Arg) | |
| 16 | g.2285515T>G | CA394316683 | ABCA3 | c.3410A>C (p.His1137Pro) c.3236A>C (p.His1079Pro) | |
| 16 | g.2285516G>A | CA394316686 | ABCA3 | c.3409C>T (p.His1137Tyr) c.3235C>T (p.His1079Tyr) | |
| 16 | g.2285516G>C | CA394316687 | ABCA3 | c.3409C>G (p.His1137Asp) c.3235C>G (p.His1079Asp) | |
| 16 | g.2285516G>T | CA394316689 | ABCA3 | c.3409C>A (p.His1137Asn) c.3235C>A (p.His1079Asn) | |
| 16 | g.2285517G>A | CA493124695 | ABCA3 | c.3408C>T (p.Val1136=) c.3234C>T (p.Val1078=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2285517G>C | CA493124699 | ABCA3 | c.3408C>G (p.Val1136=) c.3234C>G (p.Val1078=) | |
| 16 | g.2285517G= | CA2202149741 | ABCA3 | c.3408C= (p.Val1136=) c.3234C= (p.Val1078=) | |
| 16 | g.2285517G>T | CA493124710 | ABCA3 | c.3408C>A (p.Val1136=) c.3234C>A (p.Val1078=) | dbSNP gnomAD v4 |
| 16 | g.2285518A= | CA2202149742 | ABCA3 | c.3407T= (p.Val1136=) c.3233T= (p.Val1078=) | |
| 16 | g.2285518A>C | CA394316691 | ABCA3 | c.3407T>G (p.Val1136Gly) c.3233T>G (p.Val1078Gly) | |
| 16 | g.2285518A>G | CA394316692 | ABCA3 | c.3407T>C (p.Val1136Ala) c.3233T>C (p.Val1078Ala) | gnomAD v4 |
| 16 | g.2285518A>T | CA394316693 | ABCA3 | c.3407T>A (p.Val1136Asp) c.3233T>A (p.Val1078Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285519C>A | CA394316695 | ABCA3 | c.3406G>T (p.Val1136Phe) c.3232G>T (p.Val1078Phe) | |
| 16 | g.2285519C= | CA2202149743 | ABCA3 | c.3406G= (p.Val1136=) c.3232G= (p.Val1078=) | |
| 16 | g.2285519C>G | CA394316696 | ABCA3 | c.3406G>C (p.Val1136Leu) c.3232G>C (p.Val1078Leu) | |
| 16 | g.2285519C>T | CA394316699 | ABCA3 | c.3406G>A (p.Val1136Ile) c.3232G>A (p.Val1078Ile) | dbSNP gnomAD v4 |
| 16 | g.2285520T>A | CA493124734 | ABCA3 | c.3405A>T (p.Gly1135=) c.3231A>T (p.Gly1077=) | |
| 16 | g.2285520T>C | CA493124743 | ABCA3 | c.3405A>G (p.Gly1135=) c.3231A>G (p.Gly1077=) | ClinVar gnomAD v4 |
| 16 | g.2285520T>G | CA7840519 | ABCA3 | c.3405A>C (p.Gly1135=) c.3231A>C (p.Gly1077=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285520T= | CA2202149744 | ABCA3 | c.3405A= (p.Gly1135=) c.3231A= (p.Gly1077=) | |
| 16 | g.2285521C>A | CA394316704 | ABCA3 | c.3404G>T (p.Gly1135Val) c.3230G>T (p.Gly1077Val) | gnomAD v4 |
| 16 | g.2285521C>G | CA394316706 | ABCA3 | c.3404G>C (p.Gly1135Ala) c.3230G>C (p.Gly1077Ala) | |
| 16 | g.2285521C>T | CA394316709 | ABCA3 | c.3404G>A (p.Gly1135Glu) c.3230G>A (p.Gly1077Glu) | gnomAD v4 |
| 16 | g.2285522C>A | CA394316711 | ABCA3 | c.3403G>T (p.Gly1135Ter) c.3229G>T (p.Gly1077Ter) | gnomAD v4 |
| 16 | g.2285522C>G | CA394316713 | ABCA3 | c.3403G>C (p.Gly1135Arg) c.3229G>C (p.Gly1077Arg) | |
| 16 | g.2285522C>T | CA394316715 | ABCA3 | c.3403G>A (p.Gly1135Arg) c.3229G>A (p.Gly1077Arg) | gnomAD v4 |
| 16 | g.2285523A>C | CA394316718 | ABCA3 | c.3402T>G (p.Ser1134Arg) c.3228T>G (p.Ser1076Arg) | |
| 16 | g.2285523A>G | CA493124772 | ABCA3 | c.3402T>C (p.Ser1134=) c.3228T>C (p.Ser1076=) | gnomAD v4 |
| 16 | g.2285523A>T | CA394316720 | ABCA3 | c.3402T>A (p.Ser1134Arg) c.3228T>A (p.Ser1076Arg) | |
| 16 | g.2285524C>A | CA394316721 | ABCA3 | c.3401G>T (p.Ser1134Ile) c.3227G>T (p.Ser1076Ile) | |
| 16 | g.2285524C>G | CA394316722 | ABCA3 | c.3401G>C (p.Ser1134Thr) c.3227G>C (p.Ser1076Thr) | |
| 16 | g.2285524C>T | CA394316725 | ABCA3 | c.3401G>A (p.Ser1134Asn) c.3227G>A (p.Ser1076Asn) | gnomAD v4 |
| 16 | g.2285525T>A | CA394316731 | ABCA3 | c.3400A>T (p.Ser1134Cys) c.3226A>T (p.Ser1076Cys) | |
| 16 | g.2285525T>C | CA394316733 | ABCA3 | c.3400A>G (p.Ser1134Gly) c.3226A>G (p.Ser1076Gly) | dbSNP gnomAD v2 |
| 16 | g.2285525T>G | CA394316729 | ABCA3 | c.3400A>C (p.Ser1134Arg) c.3226A>C (p.Ser1076Arg) | |
| 16 | g.2285525T= | CA2202149745 | ABCA3 | c.3400A= (p.Ser1134=) c.3226A= (p.Ser1076=) | |
| 16 | g.2285526C>A | CA493124805 | ABCA3 | c.3399G>T (p.Val1133=) c.3225G>T (p.Val1075=) | |
| 16 | g.2285526C= | CA2202149746 | ABCA3 | c.3399G= (p.Val1133=) c.3225G= (p.Val1075=) | |
| 16 | g.2285526C>G | CA493124821 | ABCA3 | c.3399G>C (p.Val1133=) c.3225G>C (p.Val1075=) | |
| 16 | g.2285526C>T | CA493124816 | ABCA3 | c.3399G>A (p.Val1133=) c.3225G>A (p.Val1075=) | dbSNP gnomAD v4 |
| 16 | g.2285527A>C | CA394316736 | ABCA3 | c.3398T>G (p.Val1133Gly) c.3224T>G (p.Val1075Gly) | |
| 16 | g.2285527A>G | CA394316737 | ABCA3 | c.3398T>C (p.Val1133Ala) c.3224T>C (p.Val1075Ala) | |
| 16 | g.2285527A>T | CA394316738 | ABCA3 | c.3398T>A (p.Val1133Glu) c.3224T>A (p.Val1075Glu) | |
| 16 | g.2285528C>A | CA394316740 | ABCA3 | c.3397G>T (p.Val1133Leu) c.3223G>T (p.Val1075Leu) | |
| 16 | g.2285528C>G | CA394316741 | ABCA3 | c.3397G>C (p.Val1133Leu) c.3223G>C (p.Val1075Leu) | |
| 16 | g.2285528C>T | CA394316743 | ABCA3 | c.3397G>A (p.Val1133Met) c.3223G>A (p.Val1075Met) | |
| 16 | g.2285529A= | CA2202149747 | ABCA3 | c.3396T= (p.Phe1132=) c.3222T= (p.Phe1074=) | |
| 16 | g.2285529A>C | CA394316744 | ABCA3 | c.3396T>G (p.Phe1132Leu) c.3222T>G (p.Phe1074Leu) | |
| 16 | g.2285529A>G | CA493124865 | ABCA3 | c.3396T>C (p.Phe1132=) c.3222T>C (p.Phe1074=) | |
| 16 | g.2285529A>T | CA394316746 | ABCA3 | c.3396T>A (p.Phe1132Leu) c.3222T>A (p.Phe1074Leu) | dbSNP |
| 16 | g.2285530A>C | CA394316747 | ABCA3 | c.3395T>G (p.Phe1132Cys) c.3221T>G (p.Phe1074Cys) | |
| 16 | g.2285530A>G | CA394316748 | ABCA3 | c.3395T>C (p.Phe1132Ser) c.3221T>C (p.Phe1074Ser) | |
| 16 | g.2285530A>T | CA394316750 | ABCA3 | c.3395T>A (p.Phe1132Tyr) c.3221T>A (p.Phe1074Tyr) | |
| 16 | g.2285531A>C | CA394316752 | ABCA3 | c.3394T>G (p.Phe1132Val) c.3220T>G (p.Phe1074Val) | |
| 16 | g.2285531A>G | CA394316754 | ABCA3 | c.3394T>C (p.Phe1132Leu) c.3220T>C (p.Phe1074Leu) | |
| 16 | g.2285531A>T | CA394316756 | ABCA3 | c.3394T>A (p.Phe1132Ile) c.3220T>A (p.Phe1074Ile) | |
| 16 | g.2285532C>A | CA394316758 | ABCA3 | c.3393G>T (p.Gln1131His) c.3219G>T (p.Gln1073His) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2285532C= | CA2202149748 | ABCA3 | c.3393G= (p.Gln1131=) c.3219G= (p.Gln1073=) | |
| 16 | g.2285532C>G | CA394316760 | ABCA3 | c.3393G>C (p.Gln1131His) c.3219G>C (p.Gln1073His) | |
| 16 | g.2285532C>T | CA493124903 | ABCA3 | c.3393G>A (p.Gln1131=) c.3219G>A (p.Gln1073=) | dbSNP gnomAD v4 |
| 16 | g.2285533T>A | CA394316763 | ABCA3 | c.3392A>T (p.Gln1131Leu) c.3218A>T (p.Gln1073Leu) | |
| 16 | g.2285533T>C | CA394316765 | ABCA3 | c.3392A>G (p.Gln1131Arg) c.3218A>G (p.Gln1073Arg) | |
| 16 | g.2285533T>G | CA394316767 | ABCA3 | c.3392A>C (p.Gln1131Pro) c.3218A>C (p.Gln1073Pro) | |
| 16 | g.2285534G>A | CA394316771 | ABCA3 | c.3391C>T (p.Gln1131Ter) c.3217C>T (p.Gln1073Ter) | gnomAD v4 |
| 16 | g.2285534G>C | CA394316772 | ABCA3 | c.3391C>G (p.Gln1131Glu) c.3217C>G (p.Gln1073Glu) | |
| 16 | g.2285534G>T | CA394316774 | ABCA3 | c.3391C>A (p.Gln1131Lys) c.3217C>A (p.Gln1073Lys) | |
| 16 | g.2285535C>A | CA493124953 | ABCA3 | c.3390G>T (p.Val1130=) c.3216G>T (p.Val1072=) | |
| 16 | g.2285535C= | CA2202149749 | ABCA3 | c.3390G= (p.Val1130=) c.3216G= (p.Val1072=) | |
| 16 | g.2285535C>G | CA493124939 | ABCA3 | c.3390G>C (p.Val1130=) c.3216G>C (p.Val1072=) | |
| 16 | g.2285535C>T | CA7840520 | ABCA3 | c.3390G>A (p.Val1130=) c.3216G>A (p.Val1072=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285536A>C | CA394316777 | ABCA3 | c.3389T>G (p.Val1130Gly) c.3215T>G (p.Val1072Gly) | |
| 16 | g.2285536A>G | CA394316779 | ABCA3 | c.3389T>C (p.Val1130Ala) c.3215T>C (p.Val1072Ala) | |
| 16 | g.2285536A>T | CA394316781 | ABCA3 | c.3389T>A (p.Val1130Glu) c.3215T>A (p.Val1072Glu) | |
| 16 | g.2285537C>A | CA276822638 | ABCA3 | c.3388G>T (p.Val1130Leu) c.3214G>T (p.Val1072Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2285537C= | CA2202149750 | ABCA3 | c.3388G= (p.Val1130=) c.3214G= (p.Val1072=) | |
| 16 | g.2285537C>G | CA394316785 | ABCA3 | c.3388G>C (p.Val1130Leu) c.3214G>C (p.Val1072Leu) | |
| 16 | g.2285537C>T | CA394316787 | ABCA3 | c.3388G>A (p.Val1130Met) c.3214G>A (p.Val1072Met) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2285538A= | CA2202149751 | ABCA3 | c.3387T= (p.His1129=) c.3213T= (p.His1071=) | |
| 16 | g.2285538A>C | CA394316792 | ABCA3 | c.3387T>G (p.His1129Gln) c.3213T>G (p.His1071Gln) | |
| 16 | g.2285538A>G | CA7840521 | ABCA3 | c.3387T>C (p.His1129=) c.3213T>C (p.His1071=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2285538A>T | CA394316790 | ABCA3 | c.3387T>A (p.His1129Gln) c.3213T>A (p.His1071Gln) | |
| 16 | g.2285539T>A | CA394316795 | ABCA3 | c.3386A>T (p.His1129Leu) c.3212A>T (p.His1071Leu) | |
| 16 | g.2285539T>C | CA394316793 | ABCA3 | c.3386A>G (p.His1129Arg) c.3212A>G (p.His1071Arg) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2285539T>G | CA394316796 | ABCA3 | c.3386A>C (p.His1129Pro) c.3212A>C (p.His1071Pro) | |
| 16 | g.2285539T= | CA2202149752 | ABCA3 | c.3386A= (p.His1129=) c.3212A= (p.His1071=) | |
| 16 | g.2285540G>A | CA394316798 | ABCA3 | c.3385C>T (p.His1129Tyr) c.3211C>T (p.His1071Tyr) | gnomAD v4 |
| 16 | g.2285540G>C | CA394316800 | ABCA3 | c.3385C>G (p.His1129Asp) c.3211C>G (p.His1071Asp) | |
| 16 | g.2285540G>T | CA394316804 | ABCA3 | c.3385C>A (p.His1129Asn) c.3211C>A (p.His1071Asn) | |
| 16 | g.2285541C>A | CA394316806 | ABCA3 | c.3384G>T (p.Lys1128Asn) c.3210G>T (p.Lys1070Asn) | gnomAD v4 |
| 16 | g.2285541C= | CA2202149753 | ABCA3 | c.3384G= (p.Lys1128=) c.3210G= (p.Lys1070=) | |
| 16 | g.2285541C>G | CA394316807 | ABCA3 | c.3384G>C (p.Lys1128Asn) c.3210G>C (p.Lys1070Asn) | |
| 16 | g.2285541C>T | CA493125026 | ABCA3 | c.3384G>A (p.Lys1128=) c.3210G>A (p.Lys1070=) | dbSNP gnomAD v2 |
| 16 | g.2285542T>A | CA394316809 | ABCA3 | c.3383A>T (p.Lys1128Met) c.3209A>T (p.Lys1070Met) | |
| 16 | g.2285542T>C | CA394316814 | ABCA3 | c.3383A>G (p.Lys1128Arg) c.3209A>G (p.Lys1070Arg) | |
| 16 | g.2285542T>G | CA394316816 | ABCA3 | c.3383A>C (p.Lys1128Thr) c.3209A>C (p.Lys1070Thr) | |
| 16 | g.2285543T>A | CA394316818 | ABCA3 | c.3382A>T (p.Lys1128Ter) c.3208A>T (p.Lys1070Ter) | |
| 16 | g.2285543T>C | CA394316821 | ABCA3 | c.3382A>G (p.Lys1128Glu) c.3208A>G (p.Lys1070Glu) | dbSNP gnomAD v2 |
| 16 | g.2285543T>G | CA394316822 | ABCA3 | c.3382A>C (p.Lys1128Gln) c.3208A>C (p.Lys1070Gln) | |
| 16 | g.2285543T= | CA2202149754 | ABCA3 | c.3382A= (p.Lys1128=) c.3208A= (p.Lys1070=) | |
| 16 | g.2285544G>A | CA493125093 | ABCA3 | c.3381C>T (p.Ala1127=) c.3207C>T (p.Ala1069=) | dbSNP gnomAD v2 |
| 16 | g.2285544G>C | CA493125094 | ABCA3 | c.3381C>G (p.Ala1127=) c.3207C>G (p.Ala1069=) | |
| 16 | g.2285544G= | CA2202149755 | ABCA3 | c.3381C= (p.Ala1127=) c.3207C= (p.Ala1069=) | |
| 16 | g.2285544G>T | CA493125095 | ABCA3 | c.3381C>A (p.Ala1127=) c.3207C>A (p.Ala1069=) | |
| 16 | g.2285545G>A | CA394316829 | ABCA3 | c.3380C>T (p.Ala1127Val) c.3206C>T (p.Ala1069Val) | |
| 16 | g.2285545G>C | CA394316825 | ABCA3 | c.3380C>G (p.Ala1127Gly) c.3206C>G (p.Ala1069Gly) | |
| 16 | g.2285545G>T | CA394316826 | ABCA3 | c.3380C>A (p.Ala1127Asp) c.3206C>A (p.Ala1069Asp) | gnomAD v4 |
| 16 | g.2285546C>A | CA394316831 | ABCA3 | c.3379G>T (p.Ala1127Ser) c.3205G>T (p.Ala1069Ser) | gnomAD v4 |
| 16 | g.2285546C= | CA2202149756 | ABCA3 | c.3379G= (p.Ala1127=) c.3205G= (p.Ala1069=) | |
| 16 | g.2285546C>G | CA394316833 | ABCA3 | c.3379G>C (p.Ala1127Pro) c.3205G>C (p.Ala1069Pro) | |
| 16 | g.2285546C>T | CA394316837 | ABCA3 | c.3379G>A (p.Ala1127Thr) c.3205G>A (p.Ala1069Thr) | dbSNP |
| 16 | g.2285547C>A | CA394316841 | ABCA3 | c.3378G>T (p.Gln1126His) c.3204G>T (p.Gln1068His) | |
| 16 | g.2285547C>G | CA394316844 | ABCA3 | c.3378G>C (p.Gln1126His) c.3204G>C (p.Gln1068His) | |
| 16 | g.2285547C>T | CA493125151 | ABCA3 | c.3378G>A (p.Gln1126=) c.3204G>A (p.Gln1068=) | ClinVar gnomAD v4 |
| 16 | g.2285548T>A | CA394316847 | ABCA3 | c.3377A>T (p.Gln1126Leu) c.3203A>T (p.Gln1068Leu) | |
| 16 | g.2285548T>C | CA394316850 | ABCA3 | c.3377A>G (p.Gln1126Arg) c.3203A>G (p.Gln1068Arg) | |
| 16 | g.2285548T>G | CA394316853 | ABCA3 | c.3377A>C (p.Gln1126Pro) c.3203A>C (p.Gln1068Pro) | |
| 16 | g.2285549G>A | CA394316854 | ABCA3 | c.3376C>T (p.Gln1126Ter) c.3202C>T (p.Gln1068Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2285549G>C | CA394316855 | ABCA3 | c.3376C>G (p.Gln1126Glu) c.3202C>G (p.Gln1068Glu) | gnomAD v4 |
| 16 | g.2285549G= | CA2202149757 | ABCA3 | c.3376C= (p.Gln1126=) c.3202C= (p.Gln1068=) | |
| 16 | g.2285549G>T | CA394316856 | ABCA3 | c.3376C>A (p.Gln1126Lys) c.3202C>A (p.Gln1068Lys) | |
| 16 | g.2285550C>A | CA493125190 | ABCA3 | c.3375G>T (p.Val1125=) c.3201G>T (p.Val1067=) | |
| 16 | g.2285550C>G | CA493125198 | ABCA3 | c.3375G>C (p.Val1125=) c.3201G>C (p.Val1067=) | |
| 16 | g.2285550C>T | CA493125204 | ABCA3 | c.3375G>A (p.Val1125=) c.3201G>A (p.Val1067=) | gnomAD v4 |
| 16 | g.2285551A= | CA2202149758 | ABCA3 | c.3374T= (p.Val1125=) c.3200T= (p.Val1067=) | |
| 16 | g.2285551A>C | CA7840522 | ABCA3 | c.3374T>G (p.Val1125Gly) c.3200T>G (p.Val1067Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2285551A>G | CA394316859 | ABCA3 | c.3374T>C (p.Val1125Ala) c.3200T>C (p.Val1067Ala) | |
| 16 | g.2285551A>T | CA394316857 | ABCA3 | c.3374T>A (p.Val1125Glu) c.3200T>A (p.Val1067Glu) | |
| 16 | g.2285552C>A | CA394316861 | ABCA3 | c.3373G>T (p.Val1125Leu) c.3199G>T (p.Val1067Leu) | |
| 16 | g.2285552C= | CA2202149759 | ABCA3 | c.3373G= (p.Val1125=) c.3199G= (p.Val1067=) | |
| 16 | g.2285552C>G | CA394316864 | ABCA3 | c.3373G>C (p.Val1125Leu) c.3199G>C (p.Val1067Leu) | |
| 16 | g.2285552C>T | CA7840523 | ABCA3 | c.3373G>A (p.Val1125Met) c.3199G>A (p.Val1067Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285553G>A | CA493125241 | ABCA3 | c.3372C>T (p.Ala1124=) c.3198C>T (p.Ala1066=) | ClinVar gnomAD v4 |
| 16 | g.2285553G>C | CA493125250 | ABCA3 | c.3372C>G (p.Ala1124=) c.3198C>G (p.Ala1066=) | |
| 16 | g.2285553G>T | CA493125254 | ABCA3 | c.3372C>A (p.Ala1124=) c.3198C>A (p.Ala1066=) | |
| 16 | g.2285554G>A | CA394316870 | ABCA3 | c.3371C>T (p.Ala1124Val) c.3197C>T (p.Ala1066Val) | gnomAD v4 |
| 16 | g.2285554G>C | CA394316874 | ABCA3 | c.3371C>G (p.Ala1124Gly) c.3197C>G (p.Ala1066Gly) | |
| 16 | g.2285554G= | CA2202149760 | ABCA3 | c.3371C= (p.Ala1124=) c.3197C= (p.Ala1066=) | |
| 16 | g.2285554G>T | CA394316877 | ABCA3 | c.3371C>A (p.Ala1124Asp) c.3197C>A (p.Ala1066Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2285555C>A | CA394316882 | ABCA3 | c.3370G>T (p.Ala1124Ser) c.3196G>T (p.Ala1066Ser) | |
| 16 | g.2285555C>G | CA394316885 | ABCA3 | c.3370G>C (p.Ala1124Pro) c.3196G>C (p.Ala1066Pro) | |
| 16 | g.2285555C>T | CA394316888 | ABCA3 | c.3370G>A (p.Ala1124Thr) c.3196G>A (p.Ala1066Thr) | gnomAD v4 |
| 16 | g.2285556C>A | CA394316890 | ABCA3 | c.3369G>T (p.Arg1123Ser) c.3195G>T (p.Arg1065Ser) | gnomAD v4 |
| 16 | g.2285556C= | CA2202149761 | ABCA3 | c.3369G= (p.Arg1123=) c.3195G= (p.Arg1065=) | |
| 16 | g.2285556C>G | CA7840524 | ABCA3 | c.3369G>C (p.Arg1123Ser) c.3195G>C (p.Arg1065Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285556C>T | CA7840525 | ABCA3 | c.3369G>A (p.Arg1123=) c.3195G>A (p.Arg1065=) | dbSNP ExAC gnomAD v2 |
| 16 | g.2285557C>A | CA394316901 | ABCA3 | c.3368G>T (p.Arg1123Met) c.3194G>T (p.Arg1065Met) | |
| 16 | g.2285557C= | CA2202149762 | ABCA3 | c.3368G= (p.Arg1123=) c.3194G= (p.Arg1065=) | |
| 16 | g.2285557C>G | CA394316906 | ABCA3 | c.3368G>C (p.Arg1123Thr) c.3194G>C (p.Arg1065Thr) | |
| 16 | g.2285557C>T | CA7840526 | ABCA3 | c.3368G>A (p.Arg1123Lys) c.3194G>A (p.Arg1065Lys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.2285558T>A | CA394316910 | ABCA3 | c.3367A>T (p.Arg1123Trp) c.3193A>T (p.Arg1065Trp) | |
| 16 | g.2285558T>C | CA394316912 | ABCA3 | c.3367A>G (p.Arg1123Gly) c.3193A>G (p.Arg1065Gly) | gnomAD v4 |
| 16 | g.2285558T>G | CA493125343 | ABCA3 | c.3367A>C (p.Arg1123=) c.3193A>C (p.Arg1065=) | |
| 16 | g.2285559C>A | CA394316917 | ABCA3 | c.3366G>T (p.Glu1122Asp) c.3192G>T (p.Glu1064Asp) | gnomAD v4 |
| 16 | g.2285559C= | CA2202149763 | ABCA3 | c.3366G= (p.Glu1122=) c.3192G= (p.Glu1064=) | |
| 16 | g.2285559C>G | CA394316920 | ABCA3 | c.3366G>C (p.Glu1122Asp) c.3192G>C (p.Glu1064Asp) | |
| 16 | g.2285559C>T | CA7840527 | ABCA3 | c.3366G>A (p.Glu1122=) c.3192G>A (p.Glu1064=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2285560T>A | CA394316936 | ABCA3 | c.3365A>T (p.Glu1122Val) c.3191A>T (p.Glu1064Val) | |
| 16 | g.2285560T>C | CA394316932 | ABCA3 | c.3365A>G (p.Glu1122Gly) c.3191A>G (p.Glu1064Gly) | |
| 16 | g.2285560T>G | CA394316934 | ABCA3 | c.3365A>C (p.Glu1122Ala) c.3191A>C (p.Glu1064Ala) | |
| 16 | g.2285561C>A | CA394316940 | ABCA3 | c.3364G>T (p.Glu1122Ter) c.3190G>T (p.Glu1064Ter) | gnomAD v4 |
| 16 | g.2285561C= | CA2202149764 | ABCA3 | c.3364G= (p.Glu1122=) c.3190G= (p.Glu1064=) | |
| 16 | g.2285561C>G | CA394316943 | ABCA3 | c.3364G>C (p.Glu1122Gln) c.3190G>C (p.Glu1064Gln) | gnomAD v4 |
| 16 | g.2285561C>T | CA394316945 | ABCA3 | c.3364G>A (p.Glu1122Lys) c.3190G>A (p.Glu1064Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2285562G>A | CA7840528 | ABCA3 | c.3363C>T (p.Ser1121=) c.3189C>T (p.Ser1063=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285562G>C | CA394316948 | ABCA3 | c.3363C>G (p.Ser1121Arg) c.3189C>G (p.Ser1063Arg) | gnomAD v4 |
| 16 | g.2285562G= | CA2202149765 | ABCA3 | c.3363C= (p.Ser1121=) c.3189C= (p.Ser1063=) | |
| 16 | g.2285562G>T | CA394316949 | ABCA3 | c.3363C>A (p.Ser1121Arg) c.3189C>A (p.Ser1063Arg) | |
| 16 | g.2285563C>A | CA394316951 | ABCA3 | c.3362G>T (p.Ser1121Ile) c.3188G>T (p.Ser1063Ile) | |
| 16 | g.2285563C= | CA2202149766 | ABCA3 | c.3362G= (p.Ser1121=) c.3188G= (p.Ser1063=) | |
| 16 | g.2285563C>G | CA7840529 | ABCA3 | c.3362G>C (p.Ser1121Thr) c.3188G>C (p.Ser1063Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2285563C>T | CA394316950 | ABCA3 | c.3362G>A (p.Ser1121Asn) c.3188G>A (p.Ser1063Asn) | dbSNP gnomAD v2 |
| 16 | g.2285564T>A | CA394316954 | ABCA3 | c.3361A>T (p.Ser1121Cys) c.3187A>T (p.Ser1063Cys) | |
| 16 | g.2285564T>C | CA7840530 | ABCA3 | c.3361A>G (p.Ser1121Gly) c.3187A>G (p.Ser1063Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285564T>G | CA394316958 | ABCA3 | c.3361A>C (p.Ser1121Arg) c.3187A>C (p.Ser1063Arg) | |
| 16 | g.2285564T= | CA2202149767 | ABCA3 | c.3361A= (p.Ser1121=) c.3187A= (p.Ser1063=) | |
| 16 | g.2285565G>A | CA493125429 | ABCA3 | c.3360C>T (p.Val1120=) c.3186C>T (p.Val1062=) | |
| 16 | g.2285565G>C | CA493125426 | ABCA3 | c.3360C>G (p.Val1120=) c.3186C>G (p.Val1062=) | dbSNP |
| 16 | g.2285565G= | CA2202149768 | ABCA3 | c.3360C= (p.Val1120=) c.3186C= (p.Val1062=) | |
| 16 | g.2285565G>T | CA493125424 | ABCA3 | c.3360C>A (p.Val1120=) c.3186C>A (p.Val1062=) | |
| 16 | g.2285567_2285579del | CA2580090992 | ABCA3 | c.3348_3360del (p.Ile1117AlafsTer13) c.3174_3186del (p.Ile1059AlafsTer13) | ClinVar |
| 16 | g.2285566A= | CA2202149769 | ABCA3 | c.3359T= (p.Val1120=) c.3185T= (p.Val1062=) | |
| 16 | g.2285566A>C | CA7840531 | ABCA3 | c.3359T>G (p.Val1120Gly) c.3185T>G (p.Val1062Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2285566A>G | CA394316965 | ABCA3 | c.3359T>C (p.Val1120Ala) c.3185T>C (p.Val1062Ala) | |
| 16 | g.2285566A>T | CA394316968 | ABCA3 | c.3359T>A (p.Val1120Asp) c.3185T>A (p.Val1062Asp) | |
| 16 | g.2285567C>A | CA394316982 | ABCA3 | c.3358G>T (p.Val1120Phe) c.3184G>T (p.Val1062Phe) | |
| 16 | g.2285567C>G | CA394316975 | ABCA3 | c.3358G>C (p.Val1120Leu) c.3184G>C (p.Val1062Leu) | |
| 16 | g.2285567C>T | CA394316979 | ABCA3 | c.3358G>A (p.Val1120Ile) c.3184G>A (p.Val1062Ile) | gnomAD v4 |
| 16 | g.2285568C>A | CA493125457 | ABCA3 | c.3357G>T (p.Ala1119=) c.3183G>T (p.Ala1061=) | |
| 16 | g.2285568C= | CA2202149770 | ABCA3 | c.3357G= (p.Ala1119=) c.3183G= (p.Ala1061=) | |
| 16 | g.2285568C>G | CA7840532 | ABCA3 | c.3357G>C (p.Ala1119=) c.3183G>C (p.Ala1061=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2285568C>T | CA7840533 | ABCA3 | c.3357G>A (p.Ala1119=) c.3183G>A (p.Ala1061=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285569G>A | CA276822661 | ABCA3 | c.3356C>T (p.Ala1119Val) c.3182C>T (p.Ala1061Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285569G>C | CA394316997 | ABCA3 | c.3356C>G (p.Ala1119Gly) c.3182C>G (p.Ala1061Gly) | |
| 16 | g.2285569G= | CA2202149771 | ABCA3 | c.3356C= (p.Ala1119=) c.3182C= (p.Ala1061=) | |
| 16 | g.2285569G>T | CA7840534 | ABCA3 | c.3356C>A (p.Ala1119Glu) c.3182C>A (p.Ala1061Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2285570C>A | CA394317009 | ABCA3 | c.3355G>T (p.Ala1119Ser) c.3181G>T (p.Ala1061Ser) | gnomAD v4 |
| 16 | g.2285570C>G | CA394317002 | ABCA3 | c.3355G>C (p.Ala1119Pro) c.3181G>C (p.Ala1061Pro) | |
| 16 | g.2285570C>T | CA394317008 | ABCA3 | c.3355G>A (p.Ala1119Thr) c.3181G>A (p.Ala1061Thr) | gnomAD v4 |
| 16 | g.2285571C>A | CA493125493 | ABCA3 | c.3354G>T (p.Leu1118=) c.3180G>T (p.Leu1060=) | |
| 16 | g.2285571C= | CA2202149772 | ABCA3 | c.3354G= (p.Leu1118=) c.3180G= (p.Leu1060=) | |
| 16 | g.2285571C>G | CA493125495 | ABCA3 | c.3354G>C (p.Leu1118=) c.3180G>C (p.Leu1060=) | |
| 16 | g.2285571C>T | CA7840535 | ABCA3 | c.3354G>A (p.Leu1118=) c.3180G>A (p.Leu1060=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2285572A>C | CA394317012 | ABCA3 | c.3353T>G (p.Leu1118Arg) c.3179T>G (p.Leu1060Arg) | |
| 16 | g.2285572A>G | CA394317013 | ABCA3 | c.3353T>C (p.Leu1118Pro) c.3179T>C (p.Leu1060Pro) | gnomAD v4 |
| 16 | g.2285572A>T | CA394317015 | ABCA3 | c.3353T>A (p.Leu1118Gln) c.3179T>A (p.Leu1060Gln) | |
| 16 | g.2285573G>A | CA493125536 | ABCA3 | c.3352C>T (p.Leu1118=) c.3178C>T (p.Leu1060=) | dbSNP gnomAD v2 |
| 16 | g.2285573G>C | CA394317017 | ABCA3 | c.3352C>G (p.Leu1118Val) c.3178C>G (p.Leu1060Val) | |
| 16 | g.2285573G= | CA2202149773 | ABCA3 | c.3352C= (p.Leu1118=) c.3178C= (p.Leu1060=) | |
| 16 | g.2285573G>T | CA394317018 | ABCA3 | c.3352C>A (p.Leu1118Met) c.3178C>A (p.Leu1060Met) | gnomAD v4 |
| 16 | g.2285574G>A | CA493125548 | ABCA3 | c.3351C>T (p.Ile1117=) c.3177C>T (p.Ile1059=) | dbSNP |
| 16 | g.2285574G>C | CA394317019 | ABCA3 | c.3351C>G (p.Ile1117Met) c.3177C>G (p.Ile1059Met) | |
| 16 | g.2285574G= | CA2202149774 | ABCA3 | c.3351C= (p.Ile1117=) c.3177C= (p.Ile1059=) | |
| 16 | g.2285574G>T | CA493125558 | ABCA3 | c.3351C>A (p.Ile1117=) c.3177C>A (p.Ile1059=) | |
| 16 | g.2285575A>C | CA394317020 | ABCA3 | c.3350T>G (p.Ile1117Ser) c.3176T>G (p.Ile1059Ser) | |
| 16 | g.2285575A>G | CA394317022 | ABCA3 | c.3350T>C (p.Ile1117Thr) c.3176T>C (p.Ile1059Thr) | gnomAD v4 |
| 16 | g.2285575A>T | CA394317023 | ABCA3 | c.3350T>A (p.Ile1117Asn) c.3176T>A (p.Ile1059Asn) | |
| 16 | g.2285576T>A | CA394317029 | ABCA3 | c.3349A>T (p.Ile1117Phe) c.3175A>T (p.Ile1059Phe) | |
| 16 | g.2285576T>C | CA394317032 | ABCA3 | c.3349A>G (p.Ile1117Val) c.3175A>G (p.Ile1059Val) | |
| 16 | g.2285576T>G | CA394317033 | ABCA3 | c.3349A>C (p.Ile1117Leu) c.3175A>C (p.Ile1059Leu) | |
| 16 | g.2285577G>A | CA493125594 | ABCA3 | c.3348C>T (p.Ser1116=) c.3174C>T (p.Ser1058=) | dbSNP gnomAD v4 |
| 16 | g.2285577G>C | CA493125602 | ABCA3 | c.3348C>G (p.Ser1116=) c.3174C>G (p.Ser1058=) | |
| 16 | g.2285577G= | CA2202149775 | ABCA3 | c.3348C= (p.Ser1116=) c.3174C= (p.Ser1058=) | |
| 16 | g.2285577G>T | CA493125606 | ABCA3 | c.3348C>A (p.Ser1116=) c.3174C>A (p.Ser1058=) | |
| 16 | g.2285578G>A | CA394317034 | ABCA3 | c.3347C>T (p.Ser1116Phe) c.3173C>T (p.Ser1058Phe) | |
| 16 | g.2285578G>C | CA394317037 | ABCA3 | c.3347C>G (p.Ser1116Cys) c.3173C>G (p.Ser1058Cys) | gnomAD v4 |
| 16 | g.2285578G>T | CA394317035 | ABCA3 | c.3347C>A (p.Ser1116Tyr) c.3173C>A (p.Ser1058Tyr) | |
| 16 | g.2285579A>C | CA394317040 | ABCA3 | c.3346T>G (p.Ser1116Ala) c.3172T>G (p.Ser1058Ala) | |
| 16 | g.2285579A>G | CA394317042 | ABCA3 | c.3346T>C (p.Ser1116Pro) c.3172T>C (p.Ser1058Pro) | |
| 16 | g.2285579A>T | CA394317044 | ABCA3 | c.3346T>A (p.Ser1116Thr) c.3172T>A (p.Ser1058Thr) | |
| 16 | g.2285580G>A | CA493125636 | ABCA3 | c.3345C>T (p.Phe1115=) c.3171C>T (p.Phe1057=) | |
| 16 | g.2285580G>C | CA394317046 | ABCA3 | c.3345C>G (p.Phe1115Leu) c.3171C>G (p.Phe1057Leu) | |
| 16 | g.2285580G>T | CA394317047 | ABCA3 | c.3345C>A (p.Phe1115Leu) c.3171C>A (p.Phe1057Leu) | gnomAD v4 |
| 16 | g.2285581A>C | CA394317051 | ABCA3 | c.3344T>G (p.Phe1115Cys) c.3170T>G (p.Phe1057Cys) | |
| 16 | g.2285581A>G | CA394317049 | ABCA3 | c.3344T>C (p.Phe1115Ser) c.3170T>C (p.Phe1057Ser) | |
| 16 | g.2285581A>T | CA394317048 | ABCA3 | c.3344T>A (p.Phe1115Tyr) c.3170T>A (p.Phe1057Tyr) | |
| 16 | g.2285582A>C | CA394317055 | ABCA3 | c.3343T>G (p.Phe1115Val) c.3169T>G (p.Phe1057Val) | |
| 16 | g.2285582A>G | CA394317063 | ABCA3 | c.3343T>C (p.Phe1115Leu) c.3169T>C (p.Phe1057Leu) | |
| 16 | g.2285582A>T | CA394317066 | ABCA3 | c.3343T>A (p.Phe1115Ile) c.3169T>A (p.Phe1057Ile) | |
| 16 | g.2285583C>A | CA493125680 | ABCA3 | c.3342G>T (p.Thr1114=) c.3168G>T (p.Thr1056=) | |
| 16 | g.2285583C= | CA2202149776 | ABCA3 | c.3342G= (p.Thr1114=) c.3168G= (p.Thr1056=) | |
| 16 | g.2285583C>G | CA493125694 | ABCA3 | c.3342G>C (p.Thr1114=) c.3168G>C (p.Thr1056=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2285583C>T | CA493125686 | ABCA3 | c.3342G>A (p.Thr1114=) c.3168G>A (p.Thr1056=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285584G>A | CA276822666 | ABCA3 | c.3341C>T (p.Thr1114Met) c.3167C>T (p.Thr1056Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285584G>C | CA394317072 | ABCA3 | c.3341C>G (p.Thr1114Arg) c.3167C>G (p.Thr1056Arg) | |
| 16 | g.2285584G= | CA2202149777 | ABCA3 | c.3341C= (p.Thr1114=) c.3167C= (p.Thr1056=) | |
| 16 | g.2285584G>T | CA394317074 | ABCA3 | c.3341C>A (p.Thr1114Lys) c.3167C>A (p.Thr1056Lys) | gnomAD v4 |
| 16 | g.2285585T>A | CA394317078 | ABCA3 | c.3340A>T (p.Thr1114Ser) c.3166A>T (p.Thr1056Ser) | |
| 16 | g.2285585T>C | CA394317103 | ABCA3 | c.3340A>G (p.Thr1114Ala) c.3166A>G (p.Thr1056Ala) | |
| 16 | g.2285585T>G | CA394317100 | ABCA3 | c.3340A>C (p.Thr1114Pro) c.3166A>C (p.Thr1056Pro) | |
| 16 | g.2285586G>A | CA493125735 | ABCA3 | c.3339C>T (p.Ser1113=) c.3165C>T (p.Ser1055=) | |
| 16 | g.2285586G>C | CA394317107 | ABCA3 | c.3339C>G (p.Ser1113Arg) c.3165C>G (p.Ser1055Arg) | |
| 16 | g.2285586G>T | CA394317111 | ABCA3 | c.3339C>A (p.Ser1113Arg) c.3165C>A (p.Ser1055Arg) | |
| 16 | g.2285587C>A | CA394317114 | ABCA3 | c.3338G>T (p.Ser1113Ile) c.3164G>T (p.Ser1055Ile) | |
| 16 | g.2285587C= | CA2202149778 | ABCA3 | c.3338G= (p.Ser1113=) c.3164G= (p.Ser1055=) | |
| 16 | g.2285587C>G | CA394317115 | ABCA3 | c.3338G>C (p.Ser1113Thr) c.3164G>C (p.Ser1055Thr) | |
| 16 | g.2285587C>T | CA394317116 | ABCA3 | c.3338G>A (p.Ser1113Asn) c.3164G>A (p.Ser1055Asn) | dbSNP gnomAD v2 |
| 16 | g.2285588T>A | CA394317117 | ABCA3 | c.3337A>T (p.Ser1113Cys) c.3163A>T (p.Ser1055Cys) | gnomAD v4 |
| 16 | g.2285588T>C | CA394317120 | ABCA3 | c.3337A>G (p.Ser1113Gly) c.3163A>G (p.Ser1055Gly) | |
| 16 | g.2285588T>G | CA394317124 | ABCA3 | c.3337A>C (p.Ser1113Arg) c.3163A>C (p.Ser1055Arg) | |
| 16 | g.2285589G>A | CA493125809 | ABCA3 | c.3336C>T (p.Ala1112=) c.3162C>T (p.Ala1054=) | |
| 16 | g.2285589G>C | CA493125818 | ABCA3 | c.3336C>G (p.Ala1112=) c.3162C>G (p.Ala1054=) | |
| 16 | g.2285589G>T | CA493125813 | ABCA3 | c.3336C>A (p.Ala1112=) c.3162C>A (p.Ala1054=) | |
| 16 | g.2285590G>A | CA394317132 | ABCA3 | c.3335C>T (p.Ala1112Val) c.3161C>T (p.Ala1054Val) | gnomAD v4 |
| 16 | g.2285590G>C | CA7840536 | ABCA3 | c.3335C>G (p.Ala1112Gly) c.3161C>G (p.Ala1054Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2285590G= | CA2202149779 | ABCA3 | c.3335C= (p.Ala1112=) c.3161C= (p.Ala1054=) | |
| 16 | g.2285590G>T | CA394317139 | ABCA3 | c.3335C>A (p.Ala1112Asp) c.3161C>A (p.Ala1054Asp) | |
| 16 | g.2285591C>A | CA394317150 | ABCA3 | c.3334G>T (p.Ala1112Ser) c.3160G>T (p.Ala1054Ser) | gnomAD v4 |
| 16 | g.2285591C>G | CA394317147 | ABCA3 | c.3334G>C (p.Ala1112Pro) c.3160G>C (p.Ala1054Pro) | |
| 16 | g.2285591C>T | CA394317143 | ABCA3 | c.3334G>A (p.Ala1112Thr) c.3160G>A (p.Ala1054Thr) | gnomAD v4 |
| 16 | g.2285592C>A | CA394317155 | ABCA3 | c.3333G>T (p.Leu1111Phe) c.3159G>T (p.Leu1053Phe) | |
| 16 | g.2285592C= | CA2202149780 | ABCA3 | c.3333G= (p.Leu1111=) c.3159G= (p.Leu1053=) | |
| 16 | g.2285592C>G | CA394317163 | ABCA3 | c.3333G>C (p.Leu1111Phe) c.3159G>C (p.Leu1053Phe) | |
| 16 | g.2285592C>T | CA493125867 | ABCA3 | c.3333G>A (p.Leu1111=) c.3159G>A (p.Leu1053=) | dbSNP |
| 16 | g.2285593A>C | CA394317170 | ABCA3 | c.3332T>G (p.Leu1111Trp) c.3158T>G (p.Leu1053Trp) | |
| 16 | g.2285593A>G | CA394317172 | ABCA3 | c.3332T>C (p.Leu1111Ser) c.3158T>C (p.Leu1053Ser) | |
| 16 | g.2285593A>T | CA394317173 | ABCA3 | c.3332T>A (p.Leu1111Ter) c.3158T>A (p.Leu1053Ter) | |
| 16 | g.2285594A= | CA2202149781 | ABCA3 | c.3331T= (p.Leu1111=) c.3157T= (p.Leu1053=) | |
| 16 | g.2285594A>C | CA276822671 | ABCA3 | c.3331T>G (p.Leu1111Val) c.3157T>G (p.Leu1053Val) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2285594A>G | CA493125899 | ABCA3 | c.3331T>C (p.Leu1111=) c.3157T>C (p.Leu1053=) | |
| 16 | g.2285594A>T | CA394317176 | ABCA3 | c.3331T>A (p.Leu1111Met) c.3157T>A (p.Leu1053Met) | |
| 16 | g.2285595G>A | CA493125900 | ABCA3 | c.3330C>T (p.Phe1110=) c.3156C>T (p.Phe1052=) | dbSNP |
| 16 | g.2285595G>C | CA394317190 | ABCA3 | c.3330C>G (p.Phe1110Leu) c.3156C>G (p.Phe1052Leu) | |
| 16 | g.2285595G= | CA2202149782 | ABCA3 | c.3330C= (p.Phe1110=) c.3156C= (p.Phe1052=) | |
| 16 | g.2285595G>T | CA394317193 | ABCA3 | c.3330C>A (p.Phe1110Leu) c.3156C>A (p.Phe1052Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2285596A= | CA2202149783 | ABCA3 | c.3329T= (p.Phe1110=) c.3155T= (p.Phe1052=) | |
| 16 | g.2285596A>C | CA394317202 | ABCA3 | c.3329T>G (p.Phe1110Cys) c.3155T>G (p.Phe1052Cys) | gnomAD v4 |
| 16 | g.2285596A>G | CA7840537 | ABCA3 | c.3329T>C (p.Phe1110Ser) c.3155T>C (p.Phe1052Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2285596A>T | CA394317201 | ABCA3 | c.3329T>A (p.Phe1110Tyr) c.3155T>A (p.Phe1052Tyr) | |
| 16 | g.2285597A>C | CA394317203 | ABCA3 | c.3328T>G (p.Phe1110Val) c.3154T>G (p.Phe1052Val) | |
| 16 | g.2285597A>G | CA394317212 | ABCA3 | c.3328T>C (p.Phe1110Leu) c.3154T>C (p.Phe1052Leu) | |
| 16 | g.2285597A>T | CA394317224 | ABCA3 | c.3328T>A (p.Phe1110Ile) c.3154T>A (p.Phe1052Ile) | |
| 16 | g.2285598T>A | CA493125938 | ABCA3 | c.3327A>T (p.Ala1109=) c.3153A>T (p.Ala1051=) | |
| 16 | g.2285598T>C | CA493125935 | ABCA3 | c.3327A>G (p.Ala1109=) c.3153A>G (p.Ala1051=) | |
| 16 | g.2285598T>G | CA493125936 | ABCA3 | c.3327A>C (p.Ala1109=) c.3153A>C (p.Ala1051=) | |
| 16 | g.2285599G>A | CA394317230 | ABCA3 | c.3326C>T (p.Ala1109Val) c.3152C>T (p.Ala1051Val) | gnomAD v4 |
| 16 | g.2285599G>C | CA394317237 | ABCA3 | c.3326C>G (p.Ala1109Gly) c.3152C>G (p.Ala1051Gly) | |
| 16 | g.2285599G>T | CA394317240 | ABCA3 | c.3326C>A (p.Ala1109Glu) c.3152C>A (p.Ala1051Glu) | gnomAD v4 |