Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.215011467A=CA1327174104ABCA12c.2304T= (p.Ala768=)
c.1350T= (p.Ala450=)
n.2548T=
n.2746T=
2g.215011467A>CCA431151427ABCA12c.2304T>G (p.Ala768=)
c.1350T>G (p.Ala450=)
n.2548T>G
n.2746T>G
 gnomAD v4
2g.215011467A>GCA2091994ABCA12c.2304T>C (p.Ala768=)
c.1350T>C (p.Ala450=)
n.2548T>C
n.2746T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011467A>TCA431151428ABCA12c.2304T>A (p.Ala768=)
c.1350T>A (p.Ala450=)
n.2548T>A
n.2746T>A
2g.215011468G>ACA350483443ABCA12c.2303C>T (p.Ala768Val)
c.1349C>T (p.Ala450Val)
n.2547C>T
n.2745C>T
2g.215011468G>CCA350483444ABCA12c.2303C>G (p.Ala768Gly)
c.1349C>G (p.Ala450Gly)
n.2547C>G
n.2745C>G
2g.215011468G>TCA350483445ABCA12c.2303C>A (p.Ala768Asp)
c.1349C>A (p.Ala450Asp)
n.2547C>A
n.2745C>A
2g.215011469C>ACA350483446ABCA12c.2302G>T (p.Ala768Ser)
c.1348G>T (p.Ala450Ser)
n.2546G>T
n.2744G>T
 dbSNP gnomAD v3 gnomAD v4
2g.215011469C=CA1327174105ABCA12c.2302G= (p.Ala768=)
c.1348G= (p.Ala450=)
n.2546G=
n.2744G=
2g.215011469C>GCA350483447ABCA12c.2302G>C (p.Ala768Pro)
c.1348G>C (p.Ala450Pro)
n.2546G>C
n.2744G>C
2g.215011469C>TCA2091995ABCA12c.2302G>A (p.Ala768Thr)
c.1348G>A (p.Ala450Thr)
n.2546G>A
n.2744G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011470A=CA1327174106ABCA12c.2301T= (p.Ile767=)
c.1347T= (p.Ile449=)
n.2545T=
n.2743T=
2g.215011470A>CCA350483448ABCA12c.2301T>G (p.Ile767Met)
c.1347T>G (p.Ile449Met)
n.2545T>G
n.2743T>G
2g.215011470A>GCA431151429ABCA12c.2301T>C (p.Ile767=)
c.1347T>C (p.Ile449=)
n.2545T>C
n.2743T>C
 dbSNP
2g.215011470A>TCA431151430ABCA12c.2301T>A (p.Ile767=)
c.1347T>A (p.Ile449=)
n.2545T>A
n.2743T>A
 dbSNP gnomAD v2 gnomAD v4
2g.215011471A=CA1327174107ABCA12c.2300T= (p.Ile767=)
c.1346T= (p.Ile449=)
n.2544T=
n.2742T=
2g.215011471A>CCA350483449ABCA12c.2300T>G (p.Ile767Ser)
c.1346T>G (p.Ile449Ser)
n.2544T>G
n.2742T>G
2g.215011471A>GCA350483450ABCA12c.2300T>C (p.Ile767Thr)
c.1346T>C (p.Ile449Thr)
n.2544T>C
n.2742T>C
 gnomAD v4
2g.215011471A>TCA64844252ABCA12c.2300T>A (p.Ile767Asn)
c.1346T>A (p.Ile449Asn)
n.2544T>A
n.2742T>A
 dbSNP
2g.215011472T>ACA350483451ABCA12c.2299A>T (p.Ile767Phe)
c.1345A>T (p.Ile449Phe)
n.2543A>T
n.2741A>T
2g.215011472T>CCA350483452ABCA12c.2299A>G (p.Ile767Val)
c.1345A>G (p.Ile449Val)
n.2543A>G
n.2741A>G
 dbSNP gnomAD v3 gnomAD v4
2g.215011472T>GCA350483453ABCA12c.2299A>C (p.Ile767Leu)
c.1345A>C (p.Ile449Leu)
n.2543A>C
n.2741A>C
2g.215011472T=CA1327174108ABCA12c.2299A= (p.Ile767=)
c.1345A= (p.Ile449=)
n.2543A=
n.2741A=
2g.215011473T>ACA350483454ABCA12c.2298A>T (p.Gln766His)
c.1344A>T (p.Gln448His)
n.2542A>T
n.2740A>T
2g.215011473T>CCA64844262ABCA12c.2298A>G (p.Gln766=)
c.1344A>G (p.Gln448=)
n.2542A>G
n.2740A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215011473T>GCA350483455ABCA12c.2298A>C (p.Gln766His)
c.1344A>C (p.Gln448His)
n.2542A>C
n.2740A>C
2g.215011473T=CA1327174109ABCA12c.2298A= (p.Gln766=)
c.1344A= (p.Gln448=)
n.2542A=
n.2740A=
2g.215011474T>ACA350483456ABCA12c.2297A>T (p.Gln766Leu)
c.1343A>T (p.Gln448Leu)
n.2541A>T
n.2739A>T
2g.215011474T>CCA350483457ABCA12c.2297A>G (p.Gln766Arg)
c.1343A>G (p.Gln448Arg)
n.2541A>G
n.2739A>G
 gnomAD v4
2g.215011474T>GCA350483458ABCA12c.2297A>C (p.Gln766Pro)
c.1343A>C (p.Gln448Pro)
n.2541A>C
n.2739A>C
2g.215011475G>ACA350483459ABCA12c.2296C>T (p.Gln766Ter)
c.1342C>T (p.Gln448Ter)
n.2540C>T
n.2738C>T
 ClinVar dbSNP
2g.215011475G>CCA350483460ABCA12c.2296C>G (p.Gln766Glu)
c.1342C>G (p.Gln448Glu)
n.2540C>G
n.2738C>G
 dbSNP
2g.215011475G=CA1327174110ABCA12c.2296C= (p.Gln766=)
c.1342C= (p.Gln448=)
n.2540C=
n.2738C=
2g.215011475G>TCA2091996ABCA12c.2296C>A (p.Gln766Lys)
c.1342C>A (p.Gln448Lys)
n.2540C>A
n.2738C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215011476C>ACA350483462ABCA12c.2295G>T (p.Glu765Asp)
c.1341G>T (p.Glu447Asp)
n.2539G>T
n.2737G>T
2g.215011476C=CA1327174111ABCA12c.2295G= (p.Glu765=)
c.1341G= (p.Glu447=)
n.2539G=
n.2737G=
2g.215011476C>GCA350483461ABCA12c.2295G>C (p.Glu765Asp)
c.1341G>C (p.Glu447Asp)
n.2539G>C
n.2737G>C
2g.215011476C>TCA2091997ABCA12c.2295G>A (p.Glu765=)
c.1341G>A (p.Glu447=)
n.2539G>A
n.2737G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215011477T>ACA350483463ABCA12c.2294A>T (p.Glu765Val)
c.1340A>T (p.Glu447Val)
n.2538A>T
n.2736A>T
2g.215011477T>CCA350483464ABCA12c.2294A>G (p.Glu765Gly)
c.1340A>G (p.Glu447Gly)
n.2538A>G
n.2736A>G
2g.215011477T>GCA350483465ABCA12c.2294A>C (p.Glu765Ala)
c.1340A>C (p.Glu447Ala)
n.2538A>C
n.2736A>C
 dbSNP
2g.215011478C>ACA350483466ABCA12c.2293G>T (p.Glu765Ter)
c.1339G>T (p.Glu447Ter)
n.2537G>T
n.2735G>T
2g.215011478C>GCA350483467ABCA12c.2293G>C (p.Glu765Gln)
c.1339G>C (p.Glu447Gln)
n.2537G>C
n.2735G>C
 COSMIC COSMIC
2g.215011478C>TCA350483468ABCA12c.2293G>A (p.Glu765Lys)
c.1339G>A (p.Glu447Lys)
n.2537G>A
n.2735G>A
2g.215011479T>ACA350483469ABCA12c.2292A>T (p.Lys764Asn)
c.1338A>T (p.Lys446Asn)
n.2536A>T
n.2734A>T
2g.215011479T>CCA431151431ABCA12c.2292A>G (p.Lys764=)
c.1338A>G (p.Lys446=)
n.2536A>G
n.2734A>G
2g.215011479T>GCA350483470ABCA12c.2292A>C (p.Lys764Asn)
c.1338A>C (p.Lys446Asn)
n.2536A>C
n.2734A>C
2g.215011480T>ACA350483471ABCA12c.2291A>T (p.Lys764Ile)
c.1337A>T (p.Lys446Ile)
n.2535A>T
n.2733A>T
 dbSNP gnomAD v2 gnomAD v4
2g.215011480T>CCA350483472ABCA12c.2291A>G (p.Lys764Arg)
c.1337A>G (p.Lys446Arg)
n.2535A>G
n.2733A>G
2g.215011480T>GCA64844283ABCA12c.2291A>C (p.Lys764Thr)
c.1337A>C (p.Lys446Thr)
n.2535A>C
n.2733A>C
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched