| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214980617G>A | CA350461203 | ABCA12 | c.4606C>T (p.His1536Tyr) c.3652C>T (p.His1218Tyr) n.4906C>T c.4615C>T (p.His1539Tyr) n.5104C>T | gnomAD v4 |
| 2 | g.214980617G>C | CA350461204 | ABCA12 | c.4606C>G (p.His1536Asp) c.3652C>G (p.His1218Asp) n.4906C>G c.4615C>G (p.His1539Asp) n.5104C>G | |
| 2 | g.214980617G>T | CA350461206 | ABCA12 | c.4606C>A (p.His1536Asn) c.3652C>A (p.His1218Asn) n.4906C>A c.4615C>A (p.His1539Asn) n.5104C>A | |
| 2 | g.214980618G>A | CA431148984 | ABCA12 | c.4605C>T (p.His1535=) c.3651C>T (p.His1217=) n.4905C>T c.4614C>T (p.His1538=) n.5103C>T | |
| 2 | g.214980618G>C | CA350461208 | ABCA12 | c.4605C>G (p.His1535Gln) c.3651C>G (p.His1217Gln) n.4905C>G c.4614C>G (p.His1538Gln) n.5103C>G | gnomAD v4 |
| 2 | g.214980618G>T | CA350461209 | ABCA12 | c.4605C>A (p.His1535Gln) c.3651C>A (p.His1217Gln) n.4905C>A c.4614C>A (p.His1538Gln) n.5103C>A | |
| 2 | g.214980619T>A | CA350461210 | ABCA12 | c.4604A>T (p.His1535Leu) c.3650A>T (p.His1217Leu) n.4904A>T c.4613A>T (p.His1538Leu) n.5102A>T | |
| 2 | g.214980619T>C | CA350461214 | ABCA12 | c.4604A>G (p.His1535Arg) c.3650A>G (p.His1217Arg) n.4904A>G c.4613A>G (p.His1538Arg) n.5102A>G | |
| 2 | g.214980619T>G | CA350461212 | ABCA12 | c.4604A>C (p.His1535Pro) c.3650A>C (p.His1217Pro) n.4904A>C c.4613A>C (p.His1538Pro) n.5102A>C | |
| 2 | g.214980620G>A | CA350461216 | ABCA12 | c.4603C>T (p.His1535Tyr) c.3649C>T (p.His1217Tyr) n.4903C>T c.4612C>T (p.His1538Tyr) n.5101C>T | ClinVar |
| 2 | g.214980620G>C | CA350461218 | ABCA12 | c.4603C>G (p.His1535Asp) c.3649C>G (p.His1217Asp) n.4903C>G c.4612C>G (p.His1538Asp) n.5101C>G | |
| 2 | g.214980620G>T | CA350461220 | ABCA12 | c.4603C>A (p.His1535Asn) c.3649C>A (p.His1217Asn) n.4903C>A c.4612C>A (p.His1538Asn) n.5101C>A | |
| 2 | g.214980621C>A | CA431148991 | ABCA12 | c.4602G>T (p.Thr1534=) c.3648G>T (p.Thr1216=) n.4902G>T c.4611G>T (p.Thr1537=) n.5100G>T | |
| 2 | g.214980621C= | CA1327161023 | ABCA12 | c.4602G= (p.Thr1534=) c.3648G= (p.Thr1216=) n.4902G= c.4611G= (p.Thr1537=) n.5100G= | |
| 2 | g.214980621C>G | CA431148993 | ABCA12 | c.4602G>C (p.Thr1534=) c.3648G>C (p.Thr1216=) n.4902G>C c.4611G>C (p.Thr1537=) n.5100G>C | |
| 2 | g.214980621C>T | CA64814945 | ABCA12 | c.4602G>A (p.Thr1534=) c.3648G>A (p.Thr1216=) n.4902G>A c.4611G>A (p.Thr1537=) n.5100G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 2 | g.214980622G>A | CA2091434 | ABCA12 | c.4601C>T (p.Thr1534Met) c.3647C>T (p.Thr1216Met) n.4901C>T c.4610C>T (p.Thr1537Met) n.5099C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.214980622G>C | CA350461223 | ABCA12 | c.4601C>G (p.Thr1534Arg) c.3647C>G (p.Thr1216Arg) n.4901C>G c.4610C>G (p.Thr1537Arg) n.5099C>G | |
| 2 | g.214980622G= | CA1327161024 | ABCA12 | c.4601C= (p.Thr1534=) c.3647C= (p.Thr1216=) n.4901C= c.4610C= (p.Thr1537=) n.5099C= | |
| 2 | g.214980622G>T | CA350461225 | ABCA12 | c.4601C>A (p.Thr1534Lys) c.3647C>A (p.Thr1216Lys) n.4901C>A c.4610C>A (p.Thr1537Lys) n.5099C>A | COSMIC COSMIC |
| 2 | g.214980623T>A | CA350461228 | ABCA12 | c.4600A>T (p.Thr1534Ser) c.3646A>T (p.Thr1216Ser) n.4900A>T c.4609A>T (p.Thr1537Ser) n.5098A>T | |
| 2 | g.214980623T>C | CA350461229 | ABCA12 | c.4600A>G (p.Thr1534Ala) c.3646A>G (p.Thr1216Ala) n.4900A>G c.4609A>G (p.Thr1537Ala) n.5098A>G | |
| 2 | g.214980623T>G | CA350461232 | ABCA12 | c.4600A>C (p.Thr1534Pro) c.3646A>C (p.Thr1216Pro) n.4900A>C c.4609A>C (p.Thr1537Pro) n.5098A>C | |
| 2 | g.214980624T>A | CA431148998 | ABCA12 | c.4599A>T (p.Ser1533=) c.3645A>T (p.Ser1215=) n.4899A>T c.4608A>T (p.Ser1536=) n.5097A>T | |
| 2 | g.214980624T>C | CA431148999 | ABCA12 | c.4599A>G (p.Ser1533=) c.3645A>G (p.Ser1215=) n.4899A>G c.4608A>G (p.Ser1536=) n.5097A>G | dbSNP |
| 2 | g.214980624T>G | CA431148997 | ABCA12 | c.4599A>C (p.Ser1533=) c.3645A>C (p.Ser1215=) n.4899A>C c.4608A>C (p.Ser1536=) n.5097A>C | |
| 2 | g.214980625G>A | CA350461234 | ABCA12 | c.4598C>T (p.Ser1533Leu) c.3644C>T (p.Ser1215Leu) n.4898C>T c.4607C>T (p.Ser1536Leu) n.5096C>T | |
| 2 | g.214980625G>C | CA350461235 | ABCA12 | c.4598C>G (p.Ser1533Ter) c.3644C>G (p.Ser1215Ter) n.4898C>G c.4607C>G (p.Ser1536Ter) n.5096C>G | |
| 2 | g.214980625G>T | CA350461236 | ABCA12 | c.4598C>A (p.Ser1533Ter) c.3644C>A (p.Ser1215Ter) n.4898C>A c.4607C>A (p.Ser1536Ter) n.5096C>A | |
| 2 | g.214980626A>C | CA350461239 | ABCA12 | c.4597T>G (p.Ser1533Ala) c.3643T>G (p.Ser1215Ala) n.4897T>G c.4606T>G (p.Ser1536Ala) n.5095T>G | |
| 2 | g.214980626A>G | CA350461242 | ABCA12 | c.4597T>C (p.Ser1533Pro) c.3643T>C (p.Ser1215Pro) n.4897T>C c.4606T>C (p.Ser1536Pro) n.5095T>C | ClinVar gnomAD v4 |
| 2 | g.214980626A>T | CA350461240 | ABCA12 | c.4597T>A (p.Ser1533Thr) c.3643T>A (p.Ser1215Thr) n.4897T>A c.4606T>A (p.Ser1536Thr) n.5095T>A | |
| 2 | g.214980627C>A | CA431149006 | ABCA12 | c.4596G>T (p.Leu1532=) c.3642G>T (p.Leu1214=) n.4896G>T c.4605G>T (p.Leu1535=) n.5094G>T | |
| 2 | g.214980627C>G | CA431149007 | ABCA12 | c.4596G>C (p.Leu1532=) c.3642G>C (p.Leu1214=) n.4896G>C c.4605G>C (p.Leu1535=) n.5094G>C | |
| 2 | g.214980627C>T | CA431149009 | ABCA12 | c.4596G>A (p.Leu1532=) c.3642G>A (p.Leu1214=) n.4896G>A c.4605G>A (p.Leu1535=) n.5094G>A | |
| 2 | g.214980628A= | CA1327161025 | ABCA12 | c.4595T= (p.Leu1532=) c.3641T= (p.Leu1214=) n.4895T= c.4604T= (p.Leu1535=) n.5093T= | |
| 2 | g.214980628A>C | CA350461244 | ABCA12 | c.4595T>G (p.Leu1532Arg) c.3641T>G (p.Leu1214Arg) n.4895T>G c.4604T>G (p.Leu1535Arg) n.5093T>G | |
| 2 | g.214980628A>G | CA2091435 | ABCA12 | c.4595T>C (p.Leu1532Pro) c.3641T>C (p.Leu1214Pro) n.4895T>C c.4604T>C (p.Leu1535Pro) n.5093T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.214980628A>T | CA350461246 | ABCA12 | c.4595T>A (p.Leu1532Gln) c.3641T>A (p.Leu1214Gln) n.4895T>A c.4604T>A (p.Leu1535Gln) n.5093T>A | |
| 2 | g.214980629G>A | CA2091436 | ABCA12 | c.4594C>T (p.Leu1532=) c.3640C>T (p.Leu1214=) n.4894C>T c.4603C>T (p.Leu1535=) n.5092C>T | dbSNP ExAC gnomAD v2 |
| 2 | g.214980629G>C | CA350461250 | ABCA12 | c.4594C>G (p.Leu1532Val) c.3640C>G (p.Leu1214Val) n.4894C>G c.4603C>G (p.Leu1535Val) n.5092C>G | |
| 2 | g.214980629G= | CA1327161026 | ABCA12 | c.4594C= (p.Leu1532=) c.3640C= (p.Leu1214=) n.4894C= c.4603C= (p.Leu1535=) n.5092C= | |
| 2 | g.214980629G>T | CA350461251 | ABCA12 | c.4594C>A (p.Leu1532Met) c.3640C>A (p.Leu1214Met) n.4894C>A c.4603C>A (p.Leu1535Met) n.5092C>A | gnomAD v4 |
| 2 | g.214980630A= | CA1327161027 | ABCA12 | c.4593T= (p.Ile1531=) c.3639T= (p.Ile1213=) n.4893T= c.4602T= (p.Ile1534=) n.5091T= | |
| 2 | g.214980630A>C | CA2091437 | ABCA12 | c.4593T>G (p.Ile1531Met) c.3639T>G (p.Ile1213Met) n.4893T>G c.4602T>G (p.Ile1534Met) n.5091T>G | dbSNP ExAC gnomAD v4 |
| 2 | g.214980630A>G | CA431149014 | ABCA12 | c.4593T>C (p.Ile1531=) c.3639T>C (p.Ile1213=) n.4893T>C c.4602T>C (p.Ile1534=) n.5091T>C | |
| 2 | g.214980630A>T | CA431149016 | ABCA12 | c.4593T>A (p.Ile1531=) c.3639T>A (p.Ile1213=) n.4893T>A c.4602T>A (p.Ile1534=) n.5091T>A | |
| 2 | g.214980631A>C | CA350461255 | ABCA12 | c.4592T>G (p.Ile1531Ser) c.3638T>G (p.Ile1213Ser) n.4892T>G c.4601T>G (p.Ile1534Ser) n.5090T>G | |
| 2 | g.214980631A>G | CA350461256 | ABCA12 | c.4592T>C (p.Ile1531Thr) c.3638T>C (p.Ile1213Thr) n.4892T>C c.4601T>C (p.Ile1534Thr) n.5090T>C | |
| 2 | g.214980631A>T | CA350461258 | ABCA12 | c.4592T>A (p.Ile1531Asn) c.3638T>A (p.Ile1213Asn) n.4892T>A c.4601T>A (p.Ile1534Asn) n.5090T>A |