| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214978830C>A | CA350459561 | ABCA12 | c.4951G>T (p.Gly1651Cys) c.3997G>T (p.Gly1333Cys) n.5251G>T c.4960G>T (p.Gly1654Cys) n.5449G>T | |
| 2 | g.214978830C= | CA1327160313 | ABCA12 | c.4951G= (p.Gly1651=) c.3997G= (p.Gly1333=) n.5251G= c.4960G= (p.Gly1654=) n.5449G= | |
| 2 | g.214978830C>G | CA350459559 | ABCA12 | c.4951G>C (p.Gly1651Arg) c.3997G>C (p.Gly1333Arg) n.5251G>C c.4960G>C (p.Gly1654Arg) n.5449G>C | |
| 2 | g.214978830C>T | CA252476 | ABCA12 | c.4951G>A (p.Gly1651Ser) c.3997G>A (p.Gly1333Ser) n.5251G>A c.4960G>A (p.Gly1654Ser) n.5449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214978831G>A | CA2091342 | ABCA12 | c.4950C>T (p.Tyr1650=) c.3996C>T (p.Tyr1332=) n.5250C>T c.4959C>T (p.Tyr1653=) n.5448C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.214978831G>C | CA350459564 | ABCA12 | c.4950C>G (p.Tyr1650Ter) c.3996C>G (p.Tyr1332Ter) n.5250C>G c.4959C>G (p.Tyr1653Ter) n.5448C>G | |
| 2 | g.214978831G= | CA1327160314 | ABCA12 | c.4950C= (p.Tyr1650=) c.3996C= (p.Tyr1332=) n.5250C= c.4959C= (p.Tyr1653=) n.5448C= | |
| 2 | g.214978831G>T | CA350459566 | ABCA12 | c.4950C>A (p.Tyr1650Ter) c.3996C>A (p.Tyr1332Ter) n.5250C>A c.4959C>A (p.Tyr1653Ter) n.5448C>A | |
| 2 | g.214978832T>A | CA350459569 | ABCA12 | c.4949A>T (p.Tyr1650Phe) c.3995A>T (p.Tyr1332Phe) n.5249A>T c.4958A>T (p.Tyr1653Phe) n.5447A>T | |
| 2 | g.214978832T>C | CA2091343 | ABCA12 | c.4949A>G (p.Tyr1650Cys) c.3995A>G (p.Tyr1332Cys) n.5249A>G c.4958A>G (p.Tyr1653Cys) n.5447A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214978832T>G | CA350459572 | ABCA12 | c.4949A>C (p.Tyr1650Ser) c.3995A>C (p.Tyr1332Ser) n.5249A>C c.4958A>C (p.Tyr1653Ser) n.5447A>C | |
| 2 | g.214978832T= | CA1327160315 | ABCA12 | c.4949A= (p.Tyr1650=) c.3995A= (p.Tyr1332=) n.5249A= c.4958A= (p.Tyr1653=) n.5447A= | |
| 2 | g.214978833A>C | CA350459575 | ABCA12 | c.4948T>G (p.Tyr1650Asp) c.3994T>G (p.Tyr1332Asp) n.5248T>G c.4957T>G (p.Tyr1653Asp) n.5446T>G | |
| 2 | g.214978833A>G | CA350459577 | ABCA12 | c.4948T>C (p.Tyr1650His) c.3994T>C (p.Tyr1332His) n.5248T>C c.4957T>C (p.Tyr1653His) n.5446T>C | |
| 2 | g.214978833A>T | CA350459580 | ABCA12 | c.4948T>A (p.Tyr1650Asn) c.3994T>A (p.Tyr1332Asn) n.5248T>A c.4957T>A (p.Tyr1653Asn) n.5446T>A | |
| 2 | g.214978834G>A | CA431147079 | ABCA12 | c.4947C>T (p.Cys1649=) c.3993C>T (p.Cys1331=) n.5247C>T c.4956C>T (p.Cys1652=) n.5445C>T | gnomAD v4 |
| 2 | g.214978834G>C | CA350459582 | ABCA12 | c.4947C>G (p.Cys1649Trp) c.3993C>G (p.Cys1331Trp) n.5247C>G c.4956C>G (p.Cys1652Trp) n.5445C>G | |
| 2 | g.214978834G>T | CA350459583 | ABCA12 | c.4947C>A (p.Cys1649Ter) c.3993C>A (p.Cys1331Ter) n.5247C>A c.4956C>A (p.Cys1652Ter) n.5445C>A | |
| 2 | g.214978835C>A | CA350459585 | ABCA12 | c.4946G>T (p.Cys1649Phe) c.3992G>T (p.Cys1331Phe) n.5246G>T c.4955G>T (p.Cys1652Phe) n.5444G>T | |
| 2 | g.214978835C= | CA1327160316 | ABCA12 | c.4946G= (p.Cys1649=) c.3992G= (p.Cys1331=) n.5246G= c.4955G= (p.Cys1652=) n.5444G= | |
| 2 | g.214978835C>G | CA350459587 | ABCA12 | c.4946G>C (p.Cys1649Ser) c.3992G>C (p.Cys1331Ser) n.5246G>C c.4955G>C (p.Cys1652Ser) n.5444G>C | |
| 2 | g.214978835C>T | CA2091344 | ABCA12 | c.4946G>A (p.Cys1649Tyr) c.3992G>A (p.Cys1331Tyr) n.5246G>A c.4955G>A (p.Cys1652Tyr) n.5444G>A | dbSNP ExAC |
| 2 | g.214978836A= | CA1327160317 | ABCA12 | c.4945T= (p.Cys1649=) c.3991T= (p.Cys1331=) n.5245T= c.4954T= (p.Cys1652=) n.5443T= | |
| 2 | g.214978836A>C | CA350459592 | ABCA12 | c.4945T>G (p.Cys1649Gly) c.3991T>G (p.Cys1331Gly) n.5245T>G c.4954T>G (p.Cys1652Gly) n.5443T>G | |
| 2 | g.214978836A>G | CA350459593 | ABCA12 | c.4945T>C (p.Cys1649Arg) c.3991T>C (p.Cys1331Arg) n.5245T>C c.4954T>C (p.Cys1652Arg) n.5443T>C | |
| 2 | g.214978836A>T | CA350459591 | ABCA12 | c.4945T>A (p.Cys1649Ser) c.3991T>A (p.Cys1331Ser) n.5245T>A c.4954T>A (p.Cys1652Ser) n.5443T>A | dbSNP |
| 2 | g.214978837C>A | CA431147099 | ABCA12 | c.4944G>T (p.Gly1648=) c.3990G>T (p.Gly1330=) n.5244G>T c.4953G>T (p.Gly1651=) n.5442G>T | |
| 2 | g.214978837C>G | CA431147102 | ABCA12 | c.4944G>C (p.Gly1648=) c.3990G>C (p.Gly1330=) n.5244G>C c.4953G>C (p.Gly1651=) n.5442G>C | |
| 2 | g.214978837C>T | CA431147105 | ABCA12 | c.4944G>A (p.Gly1648=) c.3990G>A (p.Gly1330=) n.5244G>A c.4953G>A (p.Gly1651=) n.5442G>A | |
| 2 | g.214978838C>A | CA64813546 | ABCA12 | c.4943G>T (p.Gly1648Val) c.3989G>T (p.Gly1330Val) n.5243G>T c.4952G>T (p.Gly1651Val) n.5441G>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.214978838C= | CA1327160318 | ABCA12 | c.4943G= (p.Gly1648=) c.3989G= (p.Gly1330=) n.5243G= c.4952G= (p.Gly1651=) n.5441G= | |
| 2 | g.214978838C>G | CA350459597 | ABCA12 | c.4943G>C (p.Gly1648Ala) c.3989G>C (p.Gly1330Ala) n.5243G>C c.4952G>C (p.Gly1651Ala) n.5441G>C | |
| 2 | g.214978838C>T | CA350459598 | ABCA12 | c.4943G>A (p.Gly1648Glu) c.3989G>A (p.Gly1330Glu) n.5243G>A c.4952G>A (p.Gly1651Glu) n.5441G>A | COSMIC COSMIC |
| 2 | g.214978839C>A | CA350459600 | ABCA12 | c.4942G>T (p.Gly1648Trp) c.3988G>T (p.Gly1330Trp) n.5242G>T c.4951G>T (p.Gly1651Trp) n.5440G>T | |
| 2 | g.214978839C= | CA1327160319 | ABCA12 | c.4942G= (p.Gly1648=) c.3988G= (p.Gly1330=) n.5242G= c.4951G= (p.Gly1651=) n.5440G= | |
| 2 | g.214978839C>G | CA350459602 | ABCA12 | c.4942G>C (p.Gly1648Arg) c.3988G>C (p.Gly1330Arg) n.5242G>C c.4951G>C (p.Gly1651Arg) n.5440G>C | |
| 2 | g.214978839C>T | CA2091345 | ABCA12 | c.4942G>A (p.Gly1648Arg) c.3988G>A (p.Gly1330Arg) n.5242G>A c.4951G>A (p.Gly1651Arg) n.5440G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214978840G>A | CA2091346 | ABCA12 | c.4941C>T (p.Ile1647=) c.3987C>T (p.Ile1329=) n.5241C>T c.4950C>T (p.Ile1650=) n.5439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.214978840G>C | CA350459607 | ABCA12 | c.4941C>G (p.Ile1647Met) c.3987C>G (p.Ile1329Met) n.5241C>G c.4950C>G (p.Ile1650Met) n.5439C>G | |
| 2 | g.214978840G= | CA1327160320 | ABCA12 | c.4941C= (p.Ile1647=) c.3987C= (p.Ile1329=) n.5241C= c.4950C= (p.Ile1650=) n.5439C= | |
| 2 | g.214978840G>T | CA431147118 | ABCA12 | c.4941C>A (p.Ile1647=) c.3987C>A (p.Ile1329=) n.5241C>A c.4950C>A (p.Ile1650=) n.5439C>A | |
| 2 | g.214978841A>C | CA350459610 | ABCA12 | c.4940T>G (p.Ile1647Ser) c.3986T>G (p.Ile1329Ser) n.5240T>G c.4949T>G (p.Ile1650Ser) n.5438T>G | COSMIC |
| 2 | g.214978841A>G | CA350459612 | ABCA12 | c.4940T>C (p.Ile1647Thr) c.3986T>C (p.Ile1329Thr) n.5240T>C c.4949T>C (p.Ile1650Thr) n.5438T>C | |
| 2 | g.214978841A>T | CA350459614 | ABCA12 | c.4940T>A (p.Ile1647Asn) c.3986T>A (p.Ile1329Asn) n.5240T>A c.4949T>A (p.Ile1650Asn) n.5438T>A | |
| 2 | g.214978842T>A | CA350459621 | ABCA12 | c.4939A>T (p.Ile1647Phe) c.3985A>T (p.Ile1329Phe) n.5239A>T c.4948A>T (p.Ile1650Phe) n.5437A>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.214978842T>C | CA350459626 | ABCA12 | c.4939A>G (p.Ile1647Val) c.3985A>G (p.Ile1329Val) n.5239A>G c.4948A>G (p.Ile1650Val) n.5437A>G | |
| 2 | g.214978842T>G | CA350459627 | ABCA12 | c.4939A>C (p.Ile1647Leu) c.3985A>C (p.Ile1329Leu) n.5239A>C c.4948A>C (p.Ile1650Leu) n.5437A>C | |
| 2 | g.214978842T= | CA1327160321 | ABCA12 | c.4939A= (p.Ile1647=) c.3985A= (p.Ile1329=) n.5239A= c.4948A= (p.Ile1650=) n.5437A= | |
| 2 | g.214978843G>A | CA431147131 | ABCA12 | c.4938C>T (p.Asn1646=) c.3984C>T (p.Asn1328=) n.5238C>T c.4947C>T (p.Asn1649=) n.5436C>T | dbSNP gnomAD v4 |
| 2 | g.214978843G>C | CA350459630 | ABCA12 | c.4938C>G (p.Asn1646Lys) c.3984C>G (p.Asn1328Lys) n.5238C>G c.4947C>G (p.Asn1649Lys) n.5436C>G |