Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.215011456C>ACA350483415ABCA12c.2315G>T (p.Gly772Val)
c.1361G>T (p.Gly454Val)
n.2559G>T
n.2757G>T
2g.215011456C>GCA350483416ABCA12c.2315G>C (p.Gly772Ala)
c.1361G>C (p.Gly454Ala)
n.2559G>C
n.2757G>C
2g.215011456C>TCA350483417ABCA12c.2315G>A (p.Gly772Glu)
c.1361G>A (p.Gly454Glu)
n.2559G>A
n.2757G>A
COSMIC COSMIC
2g.215011457C>ACA350483418ABCA12c.2314G>T (p.Gly772Ter)
c.1360G>T (p.Gly454Ter)
n.2558G>T
n.2756G>T
2g.215011457C>GCA350483419ABCA12c.2314G>C (p.Gly772Arg)
c.1360G>C (p.Gly454Arg)
n.2558G>C
n.2756G>C
2g.215011457C>TCA350483420ABCA12c.2314G>A (p.Gly772Arg)
c.1360G>A (p.Gly454Arg)
n.2558G>A
n.2756G>A
2g.215011458A>CCA350483422ABCA12c.2313T>G (p.Tyr771Ter)
c.1359T>G (p.Tyr453Ter)
n.2557T>G
n.2755T>G
2g.215011458A>GCA431151421ABCA12c.2313T>C (p.Tyr771=)
c.1359T>C (p.Tyr453=)
n.2557T>C
n.2755T>C
2g.215011458A>TCA350483421ABCA12c.2313T>A (p.Tyr771Ter)
c.1359T>A (p.Tyr453Ter)
n.2557T>A
n.2755T>A
2g.215011459T>ACA350483423ABCA12c.2312A>T (p.Tyr771Phe)
c.1358A>T (p.Tyr453Phe)
n.2556A>T
n.2754A>T
dbSNP gnomAD v4
2g.215011459T>CCA350483424ABCA12c.2312A>G (p.Tyr771Cys)
c.1358A>G (p.Tyr453Cys)
n.2556A>G
n.2754A>G
dbSNP gnomAD v4
2g.215011459T>GCA350483425ABCA12c.2312A>C (p.Tyr771Ser)
c.1358A>C (p.Tyr453Ser)
n.2556A>C
n.2754A>C
2g.215011459T=CA1327174103ABCA12c.2312A= (p.Tyr771=)
c.1358A= (p.Tyr453=)
n.2556A=
n.2754A=
2g.215011460A>CCA350483426ABCA12c.2311T>G (p.Tyr771Asp)
c.1357T>G (p.Tyr453Asp)
n.2555T>G
n.2753T>G
2g.215011460A>GCA350483427ABCA12c.2311T>C (p.Tyr771His)
c.1357T>C (p.Tyr453His)
n.2555T>C
n.2753T>C
2g.215011460A>TCA350483428ABCA12c.2311T>A (p.Tyr771Asn)
c.1357T>A (p.Tyr453Asn)
n.2555T>A
n.2753T>A
2g.215011461T>ACA350483429ABCA12c.2310A>T (p.Lys770Asn)
c.1356A>T (p.Lys452Asn)
n.2554A>T
n.2752A>T
2g.215011461T>CCA431151422ABCA12c.2310A>G (p.Lys770=)
c.1356A>G (p.Lys452=)
n.2554A>G
n.2752A>G
2g.215011461T>GCA350483430ABCA12c.2310A>C (p.Lys770Asn)
c.1356A>C (p.Lys452Asn)
n.2554A>C
n.2752A>C
2g.215011462T>ACA350483431ABCA12c.2309A>T (p.Lys770Ile)
c.1355A>T (p.Lys452Ile)
n.2553A>T
n.2751A>T
2g.215011462T>CCA350483432ABCA12c.2309A>G (p.Lys770Arg)
c.1355A>G (p.Lys452Arg)
n.2553A>G
n.2751A>G
2g.215011462T>GCA350483433ABCA12c.2309A>C (p.Lys770Thr)
c.1355A>C (p.Lys452Thr)
n.2553A>C
n.2751A>C
2g.215011463T>ACA350483436ABCA12c.2308A>T (p.Lys770Ter)
c.1354A>T (p.Lys452Ter)
n.2552A>T
n.2750A>T
2g.215011463T>CCA350483435ABCA12c.2308A>G (p.Lys770Glu)
c.1354A>G (p.Lys452Glu)
n.2552A>G
n.2750A>G
2g.215011463T>GCA350483434ABCA12c.2308A>C (p.Lys770Gln)
c.1354A>C (p.Lys452Gln)
n.2552A>C
n.2750A>C
2g.215011464T>ACA431151424ABCA12c.2307A>T (p.Ser769=)
c.1353A>T (p.Ser451=)
n.2551A>T
n.2749A>T
2g.215011464T>CCA431151425ABCA12c.2307A>G (p.Ser769=)
c.1353A>G (p.Ser451=)
n.2551A>G
n.2749A>G
2g.215011464T>GCA431151426ABCA12c.2307A>C (p.Ser769=)
c.1353A>C (p.Ser451=)
n.2551A>C
n.2749A>C
2g.215011465G>ACA350483437ABCA12c.2306C>T (p.Ser769Leu)
c.1352C>T (p.Ser451Leu)
n.2550C>T
n.2748C>T
gnomAD v4 COSMIC COSMIC
2g.215011465G>CCA350483438ABCA12c.2306C>G (p.Ser769Ter)
c.1352C>G (p.Ser451Ter)
n.2550C>G
n.2748C>G
2g.215011465G>TCA350483439ABCA12c.2306C>A (p.Ser769Ter)
c.1352C>A (p.Ser451Ter)
n.2550C>A
n.2748C>A
gnomAD v4
2g.215011466A>CCA350483440ABCA12c.2305T>G (p.Ser769Ala)
c.1351T>G (p.Ser451Ala)
n.2549T>G
n.2747T>G
2g.215011466A>GCA350483441ABCA12c.2305T>C (p.Ser769Pro)
c.1351T>C (p.Ser451Pro)
n.2549T>C
n.2747T>C
2g.215011466A>TCA350483442ABCA12c.2305T>A (p.Ser769Thr)
c.1351T>A (p.Ser451Thr)
n.2549T>A
n.2747T>A
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=

Number of alleles fetched