Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214980608C>ACA350461165ABCA12c.4615G>T (p.Glu1539Ter)
c.3661G>T (p.Glu1221Ter)
n.4915G>T
c.4624G>T (p.Glu1542Ter)
n.5113G>T
2g.214980608C=CA1327161020ABCA12c.4615G= (p.Glu1539=)
c.3661G= (p.Glu1221=)
n.4915G=
c.4624G= (p.Glu1542=)
n.5113G=
2g.214980608C>GCA350461167ABCA12c.4615G>C (p.Glu1539Gln)
c.3661G>C (p.Glu1221Gln)
n.4915G>C
c.4624G>C (p.Glu1542Gln)
n.5113G>C
2g.214980608C>TCA252478ABCA12c.4615G>A (p.Glu1539Lys)
c.3661G>A (p.Glu1221Lys)
n.4915G>A
c.4624G>A (p.Glu1542Lys)
n.5113G>A
ClinVar dbSNP
2g.214980609G>ACA2091433ABCA12c.4614C>T (p.Asp1538=)
c.3660C>T (p.Asp1220=)
n.4914C>T
c.4623C>T (p.Asp1541=)
n.5112C>T
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC
2g.214980609G>CCA350461171ABCA12c.4614C>G (p.Asp1538Glu)
c.3660C>G (p.Asp1220Glu)
n.4914C>G
c.4623C>G (p.Asp1541Glu)
n.5112C>G
2g.214980609G=CA1327161021ABCA12c.4614C= (p.Asp1538=)
c.3660C= (p.Asp1220=)
n.4914C=
c.4623C= (p.Asp1541=)
n.5112C=
2g.214980609G>TCA350461173ABCA12c.4614C>A (p.Asp1538Glu)
c.3660C>A (p.Asp1220Glu)
n.4914C>A
c.4623C>A (p.Asp1541Glu)
n.5112C>A
2g.214980610T>ACA350461179ABCA12c.4613A>T (p.Asp1538Val)
c.3659A>T (p.Asp1220Val)
n.4913A>T
c.4622A>T (p.Asp1541Val)
n.5111A>T
COSMIC COSMIC
2g.214980610T>CCA350461176ABCA12c.4613A>G (p.Asp1538Gly)
c.3659A>G (p.Asp1220Gly)
n.4913A>G
c.4622A>G (p.Asp1541Gly)
n.5111A>G
2g.214980610T>GCA350461177ABCA12c.4613A>C (p.Asp1538Ala)
c.3659A>C (p.Asp1220Ala)
n.4913A>C
c.4622A>C (p.Asp1541Ala)
n.5111A>C
2g.214980611C>ACA350461180ABCA12c.4612G>T (p.Asp1538Tyr)
c.3658G>T (p.Asp1220Tyr)
n.4912G>T
c.4621G>T (p.Asp1541Tyr)
n.5110G>T
2g.214980611C>GCA350461183ABCA12c.4612G>C (p.Asp1538His)
c.3658G>C (p.Asp1220His)
n.4912G>C
c.4621G>C (p.Asp1541His)
n.5110G>C
2g.214980611C>TCA350461185ABCA12c.4612G>A (p.Asp1538Asn)
c.3658G>A (p.Asp1220Asn)
n.4912G>A
c.4621G>A (p.Asp1541Asn)
n.5110G>A
2g.214980612C>ACA350461187ABCA12c.4611G>T (p.Leu1537Phe)
c.3657G>T (p.Leu1219Phe)
n.4911G>T
c.4620G>T (p.Leu1540Phe)
n.5109G>T
2g.214980612C>GCA350461189ABCA12c.4611G>C (p.Leu1537Phe)
c.3657G>C (p.Leu1219Phe)
n.4911G>C
c.4620G>C (p.Leu1540Phe)
n.5109G>C
2g.214980612C>TCA431148967ABCA12c.4611G>A (p.Leu1537=)
c.3657G>A (p.Leu1219=)
n.4911G>A
c.4620G>A (p.Leu1540=)
n.5109G>A
2g.214980613A>CCA350461194ABCA12c.4610T>G (p.Leu1537Trp)
c.3656T>G (p.Leu1219Trp)
n.4910T>G
c.4619T>G (p.Leu1540Trp)
n.5108T>G
2g.214980613A>GCA350461191ABCA12c.4610T>C (p.Leu1537Ser)
c.3656T>C (p.Leu1219Ser)
n.4910T>C
c.4619T>C (p.Leu1540Ser)
n.5108T>C
2g.214980613A>TCA350461192ABCA12c.4610T>A (p.Leu1537Ter)
c.3656T>A (p.Leu1219Ter)
n.4910T>A
c.4619T>A (p.Leu1540Ter)
n.5108T>A
2g.214980614A>CCA350461195ABCA12c.4609T>G (p.Leu1537Val)
c.3655T>G (p.Leu1219Val)
n.4909T>G
c.4618T>G (p.Leu1540Val)
n.5107T>G
2g.214980614A>GCA431148974ABCA12c.4609T>C (p.Leu1537=)
c.3655T>C (p.Leu1219=)
n.4909T>C
c.4618T>C (p.Leu1540=)
n.5107T>C
2g.214980614A>TCA350461196ABCA12c.4609T>A (p.Leu1537Met)
c.3655T>A (p.Leu1219Met)
n.4909T>A
c.4618T>A (p.Leu1540Met)
n.5107T>A
2g.214980615G>ACA431148975ABCA12c.4608C>T (p.His1536=)
c.3654C>T (p.His1218=)
n.4908C>T
c.4617C>T (p.His1539=)
n.5106C>T
2g.214980615G>CCA350461197ABCA12c.4608C>G (p.His1536Gln)
c.3654C>G (p.His1218Gln)
n.4908C>G
c.4617C>G (p.His1539Gln)
n.5106C>G
2g.214980615G>TCA350461198ABCA12c.4608C>A (p.His1536Gln)
c.3654C>A (p.His1218Gln)
n.4908C>A
c.4617C>A (p.His1539Gln)
n.5106C>A
2g.214980616T>ACA350461199ABCA12c.4607A>T (p.His1536Leu)
c.3653A>T (p.His1218Leu)
n.4907A>T
c.4616A>T (p.His1539Leu)
n.5105A>T
2g.214980616T>CCA64814940ABCA12c.4607A>G (p.His1536Arg)
c.3653A>G (p.His1218Arg)
n.4907A>G
c.4616A>G (p.His1539Arg)
n.5105A>G
dbSNP
2g.214980616T>GCA350461201ABCA12c.4607A>C (p.His1536Pro)
c.3653A>C (p.His1218Pro)
n.4907A>C
c.4616A>C (p.His1539Pro)
n.5105A>C
2g.214980616T=CA1327161022ABCA12c.4607A= (p.His1536=)
c.3653A= (p.His1218=)
n.4907A=
c.4616A= (p.His1539=)
n.5105A=
2g.214980617G>ACA350461203ABCA12c.4606C>T (p.His1536Tyr)
c.3652C>T (p.His1218Tyr)
n.4906C>T
c.4615C>T (p.His1539Tyr)
n.5104C>T
2g.214980617G>CCA350461204ABCA12c.4606C>G (p.His1536Asp)
c.3652C>G (p.His1218Asp)
n.4906C>G
c.4615C>G (p.His1539Asp)
n.5104C>G
2g.214980617G>TCA350461206ABCA12c.4606C>A (p.His1536Asn)
c.3652C>A (p.His1218Asn)
n.4906C>A
c.4615C>A (p.His1539Asn)
n.5104C>A
2g.214980618G>ACA431148984ABCA12c.4605C>T (p.His1535=)
c.3651C>T (p.His1217=)
n.4905C>T
c.4614C>T (p.His1538=)
n.5103C>T
2g.214980618G>CCA350461208ABCA12c.4605C>G (p.His1535Gln)
c.3651C>G (p.His1217Gln)
n.4905C>G
c.4614C>G (p.His1538Gln)
n.5103C>G
2g.214980618G>TCA350461209ABCA12c.4605C>A (p.His1535Gln)
c.3651C>A (p.His1217Gln)
n.4905C>A
c.4614C>A (p.His1538Gln)
n.5103C>A
2g.214980619T>ACA350461210ABCA12c.4604A>T (p.His1535Leu)
c.3650A>T (p.His1217Leu)
n.4904A>T
c.4613A>T (p.His1538Leu)
n.5102A>T
2g.214980619T>CCA350461214ABCA12c.4604A>G (p.His1535Arg)
c.3650A>G (p.His1217Arg)
n.4904A>G
c.4613A>G (p.His1538Arg)
n.5102A>G
2g.214980619T>GCA350461212ABCA12c.4604A>C (p.His1535Pro)
c.3650A>C (p.His1217Pro)
n.4904A>C
c.4613A>C (p.His1538Pro)
n.5102A>C
2g.214980620G>ACA350461216ABCA12c.4603C>T (p.His1535Tyr)
c.3649C>T (p.His1217Tyr)
n.4903C>T
c.4612C>T (p.His1538Tyr)
n.5101C>T
2g.214980620G>CCA350461218ABCA12c.4603C>G (p.His1535Asp)
c.3649C>G (p.His1217Asp)
n.4903C>G
c.4612C>G (p.His1538Asp)
n.5101C>G
2g.214980620G>TCA350461220ABCA12c.4603C>A (p.His1535Asn)
c.3649C>A (p.His1217Asn)
n.4903C>A
c.4612C>A (p.His1538Asn)
n.5101C>A
2g.214980621C>ACA431148991ABCA12c.4602G>T (p.Thr1534=)
c.3648G>T (p.Thr1216=)
n.4902G>T
c.4611G>T (p.Thr1537=)
n.5100G>T
2g.214980621C=CA1327161023ABCA12c.4602G= (p.Thr1534=)
c.3648G= (p.Thr1216=)
n.4902G=
c.4611G= (p.Thr1537=)
n.5100G=
2g.214980621C>GCA431148993ABCA12c.4602G>C (p.Thr1534=)
c.3648G>C (p.Thr1216=)
n.4902G>C
c.4611G>C (p.Thr1537=)
n.5100G>C
2g.214980621C>TCA64814945ABCA12c.4602G>A (p.Thr1534=)
c.3648G>A (p.Thr1216=)
n.4902G>A
c.4611G>A (p.Thr1537=)
n.5100G>A
dbSNP COSMIC COSMIC
2g.214980622G>ACA2091434ABCA12c.4601C>T (p.Thr1534Met)
c.3647C>T (p.Thr1216Met)
n.4901C>T
c.4610C>T (p.Thr1537Met)
n.5099C>T
dbSNP ExAC gnomAD COSMIC COSMIC
2g.214980622G>CCA350461223ABCA12c.4601C>G (p.Thr1534Arg)
c.3647C>G (p.Thr1216Arg)
n.4901C>G
c.4610C>G (p.Thr1537Arg)
n.5099C>G
2g.214980622G=CA1327161024ABCA12c.4601C= (p.Thr1534=)
c.3647C= (p.Thr1216=)
n.4901C=
c.4610C= (p.Thr1537=)
n.5099C=
2g.214980622G>TCA350461225ABCA12c.4601C>A (p.Thr1534Lys)
c.3647C>A (p.Thr1216Lys)
n.4901C>A
c.4610C>A (p.Thr1537Lys)
n.5099C>A
COSMIC COSMIC

Number of alleles fetched