Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.70030496G>ACA413448690EDAc.769G>A (p.Gly257Arg)
c.373G>A (p.Gly125Arg)
Xg.70030496G>CCA16043329EDAc.769G>C (p.Gly257Arg)
c.373G>C (p.Gly125Arg)
ClinVar dbSNP
Xg.70030496G=CA2435980415EDAc.769G= (p.Gly257=)
c.373G= (p.Gly125=)
Xg.70030496G>TCA413448691EDAc.769G>T (p.Gly257Trp)
c.373G>T (p.Gly125Trp)
Xg.70030497G>ACA413448692EDAc.770G>A (p.Gly257Glu)
c.374G>A (p.Gly125Glu)
gnomAD v4
Xg.70030497G>CCA413448693EDAc.770G>C (p.Gly257Ala)
c.374G>C (p.Gly125Ala)
Xg.70030497G>TCA413448694EDAc.770G>T (p.Gly257Val)
c.374G>T (p.Gly125Val)
Xg.70030498G>ACA517013110EDAc.771G>A (p.Gly257=)
c.375G>A (p.Gly125=)
ClinVar dbSNP
Xg.70030498G>CCA517013112EDAc.771G>C (p.Gly257=)
c.375G>C (p.Gly125=)
Xg.70030498G>TCA517013114EDAc.771G>T (p.Gly257=)
c.375G>T (p.Gly125=)
gnomAD v4
Xg.70030499T>ACA413448696EDAc.772T>A (p.Ser258Thr)
c.376T>A (p.Ser126Thr)
Xg.70030499T>CCA413448697EDAc.772T>C (p.Ser258Pro)
c.376T>C (p.Ser126Pro)
Xg.70030499T>GCA413448695EDAc.772T>G (p.Ser258Ala)
c.376T>G (p.Ser126Ala)
Xg.70030500C>ACA413448699EDAc.773C>A (p.Ser258Ter)
c.377C>A (p.Ser126Ter)
Xg.70030500C>GCA413448698EDAc.773C>G (p.Ser258Ter)
c.377C>G (p.Ser126Ter)
Xg.70030500C>TCA413448700EDAc.773C>T (p.Ser258Leu)
c.377C>T (p.Ser126Leu)
Xg.70030501A>CCA517013122EDAc.774A>C (p.Ser258=)
c.378A>C (p.Ser126=)
gnomAD v4
Xg.70030501A>GCA517013123EDAc.774A>G (p.Ser258=)
c.378A>G (p.Ser126=)
Xg.70030501A>TCA517013125EDAc.774A>T (p.Ser258=)
c.378A>T (p.Ser126=)
Xg.70030502G>ACA413448701EDAc.775G>A (p.Ala259Thr)
c.379G>A (p.Ala127Thr)
Xg.70030502G>CCA413448703EDAc.775G>C (p.Ala259Pro)
c.379G>C (p.Ala127Pro)
Xg.70030502G>TCA413448702EDAc.775G>T (p.Ala259Ser)
c.379G>T (p.Ala127Ser)
gnomAD v4
Xg.70030503C>ACA10586172EDAc.776C>A (p.Ala259Glu)
c.380C>A (p.Ala127Glu)
ClinVar dbSNP
Xg.70030503C=CA2435980416EDAc.776C= (p.Ala259=)
c.380C= (p.Ala127=)
Xg.70030503C>GCA413448704EDAc.776C>G (p.Ala259Gly)
c.380C>G (p.Ala127Gly)
Xg.70030503C>TCA413448705EDAc.776C>T (p.Ala259Val)
c.380C>T (p.Ala127Val)
dbSNP
Xg.70030504A=CA2435980417EDAc.777A= (p.Ala259=)
c.381A= (p.Ala127=)
Xg.70030504A>CCA10439000EDAc.777A>C (p.Ala259=)
c.381A>C (p.Ala127=)
ClinVar dbSNP ExAC gnomAD v4
Xg.70030504A>GCA517013135EDAc.777A>G (p.Ala259=)
c.381A>G (p.Ala127=)
ClinVar dbSNP
Xg.70030504A>TCA517013137EDAc.777A>T (p.Ala259=)
c.381A>T (p.Ala127=)
Xg.70030505A>CCA413448706EDAc.778A>C (p.Ile260Leu)
c.382A>C (p.Ile128Leu)
Xg.70030505A>GCA413448707EDAc.778A>G (p.Ile260Val)
c.382A>G (p.Ile128Val)
Xg.70030505A>TCA413448708EDAc.778A>T (p.Ile260Phe)
c.382A>T (p.Ile128Phe)
Xg.70030506T>ACA413448709EDAc.779T>A (p.Ile260Asn)
c.383T>A (p.Ile128Asn)
Xg.70030506T>CCA413448710EDAc.779T>C (p.Ile260Thr)
c.383T>C (p.Ile128Thr)
Xg.70030506T>GCA413448711EDAc.779T>G (p.Ile260Ser)
c.383T>G (p.Ile128Ser)
Xg.70030507T>ACA517013163EDAc.780T>A (p.Ile260=)
c.384T>A (p.Ile128=)
Xg.70030507T>CCA517013165EDAc.780T>C (p.Ile260=)
c.384T>C (p.Ile128=)
Xg.70030507T>GCA413448712EDAc.780T>G (p.Ile260Met)
c.384T>G (p.Ile128Met)
Xg.70030508C>ACA413448715EDAc.781C>A (p.Gln261Lys)
c.385C>A (p.Gln129Lys)
gnomAD v4
Xg.70030508C>GCA413448713EDAc.781C>G (p.Gln261Glu)
c.385C>G (p.Gln129Glu)
Xg.70030508C>TCA413448714EDAc.781C>T (p.Gln261Ter)
c.385C>T (p.Gln129Ter)
Xg.70030509A>CCA413448716EDAc.782A>C (p.Gln261Pro)
c.386A>C (p.Gln129Pro)
Xg.70030509A>GCA413448717EDAc.782A>G (p.Gln261Arg)
c.386A>G (p.Gln129Arg)
gnomAD v4
Xg.70030509A>TCA413448718EDAc.782A>T (p.Gln261Leu)
c.386A>T (p.Gln129Leu)
Xg.70030510A>CCA413448719EDAc.783A>C (p.Gln261His)
c.387A>C (p.Gln129His)
Xg.70030510A>GCA517013177EDAc.783A>G (p.Gln261=)
c.387A>G (p.Gln129=)
Xg.70030510A>TCA413448720EDAc.783A>T (p.Gln261His)
c.387A>T (p.Gln129His)
Xg.70030511G>ACA413448721EDAc.784G>A (p.Val262Ile)
c.388G>A (p.Val130Ile)
dbSNP gnomAD v2
Xg.70030511G>CCA413448722EDAc.784G>C (p.Val262Leu)
c.388G>C (p.Val130Leu)

Number of alleles fetched