Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214980608C>A | CA350461165 | ABCA12 | c.4615G>T (p.Glu1539Ter) c.3661G>T (p.Glu1221Ter) n.4915G>T c.4624G>T (p.Glu1542Ter) n.5113G>T | |
2 | g.214980608C= | CA1327161020 | ABCA12 | c.4615G= (p.Glu1539=) c.3661G= (p.Glu1221=) n.4915G= c.4624G= (p.Glu1542=) n.5113G= | |
2 | g.214980608C>G | CA350461167 | ABCA12 | c.4615G>C (p.Glu1539Gln) c.3661G>C (p.Glu1221Gln) n.4915G>C c.4624G>C (p.Glu1542Gln) n.5113G>C | |
2 | g.214980608C>T | CA252478 | ABCA12 | c.4615G>A (p.Glu1539Lys) c.3661G>A (p.Glu1221Lys) n.4915G>A c.4624G>A (p.Glu1542Lys) n.5113G>A | ClinVar dbSNP gnomAD v4 |
2 | g.214980609G>A | CA2091433 | ABCA12 | c.4614C>T (p.Asp1538=) c.3660C>T (p.Asp1220=) n.4914C>T c.4623C>T (p.Asp1541=) n.5112C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214980609G>C | CA350461171 | ABCA12 | c.4614C>G (p.Asp1538Glu) c.3660C>G (p.Asp1220Glu) n.4914C>G c.4623C>G (p.Asp1541Glu) n.5112C>G | |
2 | g.214980609G= | CA1327161021 | ABCA12 | c.4614C= (p.Asp1538=) c.3660C= (p.Asp1220=) n.4914C= c.4623C= (p.Asp1541=) n.5112C= | |
2 | g.214980609G>T | CA350461173 | ABCA12 | c.4614C>A (p.Asp1538Glu) c.3660C>A (p.Asp1220Glu) n.4914C>A c.4623C>A (p.Asp1541Glu) n.5112C>A | |
2 | g.214980610T>A | CA350461179 | ABCA12 | c.4613A>T (p.Asp1538Val) c.3659A>T (p.Asp1220Val) n.4913A>T c.4622A>T (p.Asp1541Val) n.5111A>T | COSMIC COSMIC |
2 | g.214980610T>C | CA350461176 | ABCA12 | c.4613A>G (p.Asp1538Gly) c.3659A>G (p.Asp1220Gly) n.4913A>G c.4622A>G (p.Asp1541Gly) n.5111A>G | |
2 | g.214980610T>G | CA350461177 | ABCA12 | c.4613A>C (p.Asp1538Ala) c.3659A>C (p.Asp1220Ala) n.4913A>C c.4622A>C (p.Asp1541Ala) n.5111A>C | |
2 | g.214980611C>A | CA350461180 | ABCA12 | c.4612G>T (p.Asp1538Tyr) c.3658G>T (p.Asp1220Tyr) n.4912G>T c.4621G>T (p.Asp1541Tyr) n.5110G>T | |
2 | g.214980611C>G | CA350461183 | ABCA12 | c.4612G>C (p.Asp1538His) c.3658G>C (p.Asp1220His) n.4912G>C c.4621G>C (p.Asp1541His) n.5110G>C | |
2 | g.214980611C>T | CA350461185 | ABCA12 | c.4612G>A (p.Asp1538Asn) c.3658G>A (p.Asp1220Asn) n.4912G>A c.4621G>A (p.Asp1541Asn) n.5110G>A | |
2 | g.214980612C>A | CA350461187 | ABCA12 | c.4611G>T (p.Leu1537Phe) c.3657G>T (p.Leu1219Phe) n.4911G>T c.4620G>T (p.Leu1540Phe) n.5109G>T | gnomAD v4 |
2 | g.214980612C>G | CA350461189 | ABCA12 | c.4611G>C (p.Leu1537Phe) c.3657G>C (p.Leu1219Phe) n.4911G>C c.4620G>C (p.Leu1540Phe) n.5109G>C | |
2 | g.214980612C>T | CA431148967 | ABCA12 | c.4611G>A (p.Leu1537=) c.3657G>A (p.Leu1219=) n.4911G>A c.4620G>A (p.Leu1540=) n.5109G>A | |
2 | g.214980613A>C | CA350461194 | ABCA12 | c.4610T>G (p.Leu1537Trp) c.3656T>G (p.Leu1219Trp) n.4910T>G c.4619T>G (p.Leu1540Trp) n.5108T>G | gnomAD v4 |
2 | g.214980613A>G | CA350461191 | ABCA12 | c.4610T>C (p.Leu1537Ser) c.3656T>C (p.Leu1219Ser) n.4910T>C c.4619T>C (p.Leu1540Ser) n.5108T>C | |
2 | g.214980613A>T | CA350461192 | ABCA12 | c.4610T>A (p.Leu1537Ter) c.3656T>A (p.Leu1219Ter) n.4910T>A c.4619T>A (p.Leu1540Ter) n.5108T>A | |
2 | g.214980614A>C | CA350461195 | ABCA12 | c.4609T>G (p.Leu1537Val) c.3655T>G (p.Leu1219Val) n.4909T>G c.4618T>G (p.Leu1540Val) n.5107T>G | |
2 | g.214980614A>G | CA431148974 | ABCA12 | c.4609T>C (p.Leu1537=) c.3655T>C (p.Leu1219=) n.4909T>C c.4618T>C (p.Leu1540=) n.5107T>C | |
2 | g.214980614A>T | CA350461196 | ABCA12 | c.4609T>A (p.Leu1537Met) c.3655T>A (p.Leu1219Met) n.4909T>A c.4618T>A (p.Leu1540Met) n.5107T>A | |
2 | g.214980615G>A | CA431148975 | ABCA12 | c.4608C>T (p.His1536=) c.3654C>T (p.His1218=) n.4908C>T c.4617C>T (p.His1539=) n.5106C>T | |
2 | g.214980615G>C | CA350461197 | ABCA12 | c.4608C>G (p.His1536Gln) c.3654C>G (p.His1218Gln) n.4908C>G c.4617C>G (p.His1539Gln) n.5106C>G | |
2 | g.214980615G>T | CA350461198 | ABCA12 | c.4608C>A (p.His1536Gln) c.3654C>A (p.His1218Gln) n.4908C>A c.4617C>A (p.His1539Gln) n.5106C>A | |
2 | g.214980616T>A | CA350461199 | ABCA12 | c.4607A>T (p.His1536Leu) c.3653A>T (p.His1218Leu) n.4907A>T c.4616A>T (p.His1539Leu) n.5105A>T | |
2 | g.214980616T>C | CA64814940 | ABCA12 | c.4607A>G (p.His1536Arg) c.3653A>G (p.His1218Arg) n.4907A>G c.4616A>G (p.His1539Arg) n.5105A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214980616T>G | CA350461201 | ABCA12 | c.4607A>C (p.His1536Pro) c.3653A>C (p.His1218Pro) n.4907A>C c.4616A>C (p.His1539Pro) n.5105A>C | |
2 | g.214980616T= | CA1327161022 | ABCA12 | c.4607A= (p.His1536=) c.3653A= (p.His1218=) n.4907A= c.4616A= (p.His1539=) n.5105A= | |
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 | |
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 | 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 |