Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51790428G>ACA384909065SCN8Ac.4450G>A (p.Glu1484Lys)
c.2514G>A
c.4327G>A (p.Glu1443Lys)
c.4483G>A (p.Glu1495Lys)
12g.51790428G>CCA384909066SCN8Ac.4450G>C (p.Glu1484Gln)
c.2514G>C
c.4327G>C (p.Glu1443Gln)
c.4483G>C (p.Glu1495Gln)
12g.51790428G=CA2036173475SCN8Ac.4450G= (p.Glu1484=)
c.2514G=
c.4327G= (p.Glu1443=)
c.4483G= (p.Glu1495=)
12g.51790428G>TCA384909067SCN8Ac.4450G>T (p.Glu1484Ter)
c.2514G>T
c.4327G>T (p.Glu1443Ter)
c.4483G>T (p.Glu1495Ter)
 dbSNP
12g.51790429A>CCA384909068SCN8Ac.4451A>C (p.Glu1484Ala)
c.2515A>C
c.4328A>C (p.Glu1443Ala)
c.4484A>C (p.Glu1495Ala)
12g.51790429A>GCA384909069SCN8Ac.4451A>G (p.Glu1484Gly)
c.2515A>G
c.4328A>G (p.Glu1443Gly)
c.4484A>G (p.Glu1495Gly)
12g.51790429A>TCA384909070SCN8Ac.4451A>T (p.Glu1484Val)
c.2515A>T
c.4328A>T (p.Glu1443Val)
c.4484A>T (p.Glu1495Val)
12g.51790430A>CCA384909071SCN8Ac.4452A>C (p.Glu1484Asp)
c.2516A>C
c.4329A>C (p.Glu1443Asp)
c.4485A>C (p.Glu1495Asp)
12g.51790430A>GCA479795123SCN8Ac.4452A>G (p.Glu1484=)
c.2516A>G
c.4329A>G (p.Glu1443=)
c.4485A>G (p.Glu1495=)
12g.51790430A>TCA384909072SCN8Ac.4452A>T (p.Glu1484Asp)
c.2516A>T
c.4329A>T (p.Glu1443Asp)
c.4485A>T (p.Glu1495Asp)
12g.51790431C>ACA384909073SCN8Ac.4453C>A (p.Gln1485Lys)
c.2517C>A
c.4330C>A (p.Gln1444Lys)
c.4486C>A (p.Gln1496Lys)
12g.51790431C=CA2036173479SCN8Ac.4453C= (p.Gln1485=)
c.2517C=
c.4330C= (p.Gln1444=)
c.4486C= (p.Gln1496=)
12g.51790431C>GCA384909074SCN8Ac.4453C>G (p.Gln1485Glu)
c.2517C>G
c.4330C>G (p.Gln1444Glu)
c.4486C>G (p.Gln1496Glu)
12g.51790431C>TCA384909075SCN8Ac.4453C>T (p.Gln1485Ter)
c.2517C>T
c.4330C>T (p.Gln1444Ter)
c.4486C>T (p.Gln1496Ter)
 dbSNP
12g.51790432A>CCA384909076SCN8Ac.4454A>C (p.Gln1485Pro)
c.2518A>C
c.4331A>C (p.Gln1444Pro)
c.4487A>C (p.Gln1496Pro)
12g.51790432A>GCA384909077SCN8Ac.4454A>G (p.Gln1485Arg)
c.2518A>G
c.4331A>G (p.Gln1444Arg)
c.4487A>G (p.Gln1496Arg)
12g.51790432A>TCA384909078SCN8Ac.4454A>T (p.Gln1485Leu)
c.2518A>T
c.4331A>T (p.Gln1444Leu)
c.4487A>T (p.Gln1496Leu)
12g.51790433G>ACA479795124SCN8Ac.4455G>A (p.Gln1485=)
c.2519G>A
c.4332G>A (p.Gln1444=)
c.4488G>A (p.Gln1496=)
12g.51790433G>CCA384909079SCN8Ac.4455G>C (p.Gln1485His)
c.2519G>C
c.4332G>C (p.Gln1444His)
c.4488G>C (p.Gln1496His)
12g.51790433G>TCA384909080SCN8Ac.4455G>T (p.Gln1485His)
c.2519G>T
c.4332G>T (p.Gln1444His)
c.4488G>T (p.Gln1496His)
12g.51790434A=CA2036173481SCN8Ac.4456A= (p.Lys1486=)
c.2520A=
c.4333A= (p.Lys1445=)
c.4489A= (p.Lys1497=)
12g.51790434A>CCA384909081SCN8Ac.4456A>C (p.Lys1486Gln)
c.2520A>C
c.4333A>C (p.Lys1445Gln)
c.4489A>C (p.Lys1497Gln)
12g.51790434A>GCA384909082SCN8Ac.4456A>G (p.Lys1486Glu)
c.2520A>G
c.4333A>G (p.Lys1445Glu)
c.4489A>G (p.Lys1497Glu)
12g.51790434A>TCA384909083SCN8Ac.4456A>T (p.Lys1486Ter)
c.2520A>T
c.4333A>T (p.Lys1445Ter)
c.4489A>T (p.Lys1497Ter)
 dbSNP
12g.51790435A>CCA384909086SCN8Ac.4457A>C (p.Lys1486Thr)
c.2521A>C
c.4334A>C (p.Lys1445Thr)
c.4490A>C (p.Lys1497Thr)
12g.51790435A>GCA384909085SCN8Ac.4457A>G (p.Lys1486Arg)
c.2521A>G
c.4334A>G (p.Lys1445Arg)
c.4490A>G (p.Lys1497Arg)
12g.51790435A>TCA384909084SCN8Ac.4457A>T (p.Lys1486Met)
c.2521A>T
c.4334A>T (p.Lys1445Met)
c.4490A>T (p.Lys1497Met)
12g.51790436G>ACA479795125SCN8Ac.4458G>A (p.Lys1486=)
c.2522G>A
c.4335G>A (p.Lys1445=)
c.4491G>A (p.Lys1497=)
 gnomAD v4
12g.51790436G>CCA384909087SCN8Ac.4458G>C (p.Lys1486Asn)
c.2522G>C
c.4335G>C (p.Lys1445Asn)
c.4491G>C (p.Lys1497Asn)
12g.51790436G=CA2036173484SCN8Ac.4458G= (p.Lys1486=)
c.2522G=
c.4335G= (p.Lys1445=)
c.4491G= (p.Lys1497=)
12g.51790436G>TCA384909088SCN8Ac.4458G>T (p.Lys1486Asn)
c.2522G>T
c.4335G>T (p.Lys1445Asn)
c.4491G>T (p.Lys1497Asn)
 dbSNP
12g.51790437A=CA2036173486SCN8Ac.4459A= (p.Lys1487=)
c.2523A=
c.4336A= (p.Lys1446=)
c.4492A= (p.Lys1498=)
12g.51790437A>CCA384909089SCN8Ac.4459A>C (p.Lys1487Gln)
c.2523A>C
c.4336A>C (p.Lys1446Gln)
c.4492A>C (p.Lys1498Gln)
12g.51790437A>GCA384909090SCN8Ac.4459A>G (p.Lys1487Glu)
c.2523A>G
c.4336A>G (p.Lys1446Glu)
c.4492A>G (p.Lys1498Glu)
12g.51790437A>TCA384909091SCN8Ac.4459A>T (p.Lys1487Ter)
c.2523A>T
c.4336A>T (p.Lys1446Ter)
c.4492A>T (p.Lys1498Ter)
 dbSNP
12g.51790438A>CCA384909092SCN8Ac.4460A>C (p.Lys1487Thr)
c.2524A>C
c.4337A>C (p.Lys1446Thr)
c.4493A>C (p.Lys1498Thr)
12g.51790438A>GCA384909093SCN8Ac.4460A>G (p.Lys1487Arg)
c.2524A>G
c.4337A>G (p.Lys1446Arg)
c.4493A>G (p.Lys1498Arg)
12g.51790438A>TCA384909094SCN8Ac.4460A>T (p.Lys1487Met)
c.2524A>T
c.4337A>T (p.Lys1446Met)
c.4493A>T (p.Lys1498Met)
 ClinVar
12g.51790439G>ACA479795126SCN8Ac.4461G>A (p.Lys1487=)
c.2525G>A
c.4338G>A (p.Lys1446=)
c.4494G>A (p.Lys1498=)
 gnomAD v4
12g.51790439G>CCA384909095SCN8Ac.4461G>C (p.Lys1487Asn)
c.2525G>C
c.4338G>C (p.Lys1446Asn)
c.4494G>C (p.Lys1498Asn)
12g.51790439G>TCA384909096SCN8Ac.4461G>T (p.Lys1487Asn)
c.2525G>T
c.4338G>T (p.Lys1446Asn)
c.4494G>T (p.Lys1498Asn)
12g.51790440T>ACA384909097SCN8Ac.4462T>A (p.Tyr1488Asn)
c.2526T>A
c.4339T>A (p.Tyr1447Asn)
c.4495T>A (p.Tyr1499Asn)
12g.51790440T>CCA384909098SCN8Ac.4462T>C (p.Tyr1488His)
c.2526T>C
c.4339T>C (p.Tyr1447His)
c.4495T>C (p.Tyr1499His)
12g.51790440T>GCA384909099SCN8Ac.4462T>G (p.Tyr1488Asp)
c.2526T>G
c.4339T>G (p.Tyr1447Asp)
c.4495T>G (p.Tyr1499Asp)
12g.51790441A>CCA384909100SCN8Ac.4463A>C (p.Tyr1488Ser)
c.2527A>C
c.4340A>C (p.Tyr1447Ser)
c.4496A>C (p.Tyr1499Ser)
12g.51790441A>GCA384909102SCN8Ac.4463A>G (p.Tyr1488Cys)
c.2527A>G
c.4340A>G (p.Tyr1447Cys)
c.4496A>G (p.Tyr1499Cys)
12g.51790441A>TCA384909101SCN8Ac.4463A>T (p.Tyr1488Phe)
c.2527A>T
c.4340A>T (p.Tyr1447Phe)
c.4496A>T (p.Tyr1499Phe)
12g.51790442C>ACA384909103SCN8Ac.4464C>A (p.Tyr1488Ter)
c.2528C>A
c.4341C>A (p.Tyr1447Ter)
c.4497C>A (p.Tyr1499Ter)
12g.51790442C>GCA384909104SCN8Ac.4464C>G (p.Tyr1488Ter)
c.2528C>G
c.4341C>G (p.Tyr1447Ter)
c.4497C>G (p.Tyr1499Ter)
12g.51790442C>TCA479795127SCN8Ac.4464C>T (p.Tyr1488=)
c.2528C>T
c.4341C>T (p.Tyr1447=)
c.4497C>T (p.Tyr1499=)

Number of alleles fetched