Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.215011442A=CA1327174101ABCA12c.2329T= (p.Ser777=)
c.1375T= (p.Ser459=)
n.2573T=
n.2771T=
2g.215011442A>CCA350483385ABCA12c.2329T>G (p.Ser777Ala)
c.1375T>G (p.Ser459Ala)
n.2573T>G
n.2771T>G
2g.215011442A>GCA350483386ABCA12c.2329T>C (p.Ser777Pro)
c.1375T>C (p.Ser459Pro)
n.2573T>C
n.2771T>C
2g.215011442A>TCA2091993ABCA12c.2329T>A (p.Ser777Thr)
c.1375T>A (p.Ser459Thr)
n.2573T>A
n.2771T>A
ClinVar dbSNP ExAC gnomAD
2g.215011443A>CCA350483387ABCA12c.2328T>G (p.Asn776Lys)
c.1374T>G (p.Asn458Lys)
n.2572T>G
n.2770T>G
2g.215011443A>GCA431151410ABCA12c.2328T>C (p.Asn776=)
c.1374T>C (p.Asn458=)
n.2572T>C
n.2770T>C
2g.215011443A>TCA350483388ABCA12c.2328T>A (p.Asn776Lys)
c.1374T>A (p.Asn458Lys)
n.2572T>A
n.2770T>A
2g.215011444T>ACA350483389ABCA12c.2327A>T (p.Asn776Ile)
c.1373A>T (p.Asn458Ile)
n.2571A>T
n.2769A>T
2g.215011444T>CCA350483390ABCA12c.2327A>G (p.Asn776Ser)
c.1373A>G (p.Asn458Ser)
n.2571A>G
n.2769A>G
2g.215011444T>GCA350483391ABCA12c.2327A>C (p.Asn776Thr)
c.1373A>C (p.Asn458Thr)
n.2571A>C
n.2769A>C
2g.215011445T>ACA350483392ABCA12c.2326A>T (p.Asn776Tyr)
c.1372A>T (p.Asn458Tyr)
n.2570A>T
n.2768A>T
2g.215011445T>CCA350483393ABCA12c.2326A>G (p.Asn776Asp)
c.1372A>G (p.Asn458Asp)
n.2570A>G
n.2768A>G
2g.215011445T>GCA350483394ABCA12c.2326A>C (p.Asn776His)
c.1372A>C (p.Asn458His)
n.2570A>C
n.2768A>C
2g.215011446T>ACA431151411ABCA12c.2325A>T (p.Ile775=)
c.1371A>T (p.Ile457=)
n.2569A>T
n.2767A>T
2g.215011446T>CCA350483395ABCA12c.2325A>G (p.Ile775Met)
c.1371A>G (p.Ile457Met)
n.2569A>G
n.2767A>G
2g.215011446T>GCA431151412ABCA12c.2325A>C (p.Ile775=)
c.1371A>C (p.Ile457=)
n.2569A>C
n.2767A>C
2g.215011447A>CCA350483396ABCA12c.2324T>G (p.Ile775Arg)
c.1370T>G (p.Ile457Arg)
n.2568T>G
n.2766T>G
2g.215011447A>GCA350483398ABCA12c.2324T>C (p.Ile775Thr)
c.1370T>C (p.Ile457Thr)
n.2568T>C
n.2766T>C
2g.215011447A>TCA350483397ABCA12c.2324T>A (p.Ile775Lys)
c.1370T>A (p.Ile457Lys)
n.2568T>A
n.2766T>A
2g.215011448T>ACA350483399ABCA12c.2323A>T (p.Ile775Leu)
c.1369A>T (p.Ile457Leu)
n.2567A>T
n.2765A>T
2g.215011448T>CCA350483401ABCA12c.2323A>G (p.Ile775Val)
c.1369A>G (p.Ile457Val)
n.2567A>G
n.2765A>G
2g.215011448T>GCA350483400ABCA12c.2323A>C (p.Ile775Leu)
c.1369A>C (p.Ile457Leu)
n.2567A>C
n.2765A>C
2g.215011449G>ACA431151413ABCA12c.2322C>T (p.Pro774=)
c.1368C>T (p.Pro456=)
n.2566C>T
n.2764C>T
gnomAD
2g.215011449G>CCA431151414ABCA12c.2322C>G (p.Pro774=)
c.1368C>G (p.Pro456=)
n.2566C>G
n.2764C>G
2g.215011449G=CA1327174102ABCA12c.2322C= (p.Pro774=)
c.1368C= (p.Pro456=)
n.2566C=
n.2764C=
2g.215011449G>TCA431151415ABCA12c.2322C>A (p.Pro774=)
c.1368C>A (p.Pro456=)
n.2566C>A
n.2764C>A
2g.215011450G>ACA350483402ABCA12c.2321C>T (p.Pro774Leu)
c.1367C>T (p.Pro456Leu)
n.2565C>T
n.2763C>T
2g.215011450G>CCA350483404ABCA12c.2321C>G (p.Pro774Arg)
c.1367C>G (p.Pro456Arg)
n.2565C>G
n.2763C>G
2g.215011450G>TCA350483403ABCA12c.2321C>A (p.Pro774His)
c.1367C>A (p.Pro456His)
n.2565C>A
n.2763C>A
2g.215011451G>ACA350483405ABCA12c.2320C>T (p.Pro774Ser)
c.1366C>T (p.Pro456Ser)
n.2564C>T
n.2762C>T
2g.215011451G>CCA350483407ABCA12c.2320C>G (p.Pro774Ala)
c.1366C>G (p.Pro456Ala)
n.2564C>G
n.2762C>G
2g.215011451G>TCA350483406ABCA12c.2320C>A (p.Pro774Thr)
c.1366C>A (p.Pro456Thr)
n.2564C>A
n.2762C>A
2g.215011452A>CCA350483408ABCA12c.2319T>G (p.Ile773Met)
c.1365T>G (p.Ile455Met)
n.2563T>G
n.2761T>G
2g.215011452A>GCA431151416ABCA12c.2319T>C (p.Ile773=)
c.1365T>C (p.Ile455=)
n.2563T>C
n.2761T>C
2g.215011452A>TCA431151417ABCA12c.2319T>A (p.Ile773=)
c.1365T>A (p.Ile455=)
n.2563T>A
n.2761T>A
2g.215011453A>CCA350483411ABCA12c.2318T>G (p.Ile773Ser)
c.1364T>G (p.Ile455Ser)
n.2562T>G
n.2760T>G
2g.215011453A>GCA350483409ABCA12c.2318T>C (p.Ile773Thr)
c.1364T>C (p.Ile455Thr)
n.2562T>C
n.2760T>C
2g.215011453A>TCA350483410ABCA12c.2318T>A (p.Ile773Asn)
c.1364T>A (p.Ile455Asn)
n.2562T>A
n.2760T>A
2g.215011454T>ACA350483412ABCA12c.2317A>T (p.Ile773Phe)
c.1363A>T (p.Ile455Phe)
n.2561A>T
n.2759A>T
2g.215011454T>CCA350483413ABCA12c.2317A>G (p.Ile773Val)
c.1363A>G (p.Ile455Val)
n.2561A>G
n.2759A>G
2g.215011454T>GCA350483414ABCA12c.2317A>C (p.Ile773Leu)
c.1363A>C (p.Ile455Leu)
n.2561A>C
n.2759A>C
2g.215011455T>ACA431151418ABCA12c.2316A>T (p.Gly772=)
c.1362A>T (p.Gly454=)
n.2560A>T
n.2758A>T
2g.215011455T>CCA431151420ABCA12c.2316A>G (p.Gly772=)
c.1362A>G (p.Gly454=)
n.2560A>G
n.2758A>G
2g.215011455T>GCA431151419ABCA12c.2316A>C (p.Gly772=)
c.1362A>C (p.Gly454=)
n.2560A>C
n.2758A>C
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

Number of alleles fetched