Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24290904_24290955delCA2677515139DCDC2c.682_704+29del
gnomAD v4
6g.24290929T>ACA1616446723DCDC2c.704+3A>T (n.704+3A>T)
dbSNP
6g.24290929T>CCA1616446725DCDC2c.704+3A>G (n.704+3A>G)
dbSNP gnomAD v4
6g.24290929T=CA1616446720DCDC2c.704+3A= (n.704+3A=)
6g.24290930A>CCA363280032DCDC2c.704+2T>G (n.704+2T>G)
6g.24290930A>GCA363280036DCDC2c.704+2T>C (n.704+2T>C)
6g.24290930A>TCA363280041DCDC2c.704+2T>A (n.704+2T>A)
6g.24290931C>ACA363280044DCDC2c.704+1G>T (n.704+1G>T)
6g.24290931C>GCA363280056DCDC2c.704+1G>C (n.704+1G>C)
6g.24290931C>TCA363280060DCDC2c.704+1G>A (n.704+1G>A)
6g.24290932C>ACA363280061DCDC2c.704G>T (p.Gly235Val)
6g.24290932C>GCA363280064DCDC2c.704G>C (p.Gly235Ala)
6g.24290932C>TCA363280062DCDC2c.704G>A (p.Gly235Asp)
6g.24290933C>ACA363280066DCDC2c.703G>T (p.Gly235Cys)
6g.24290933C>GCA363280069DCDC2c.703G>C (p.Gly235Arg)
gnomAD v4
6g.24290933C>TCA363280071DCDC2c.703G>A (p.Gly235Ser)
6g.24290934A>CCA363280074DCDC2c.702T>G (p.Phe234Leu)
6g.24290934A>GCA448951161DCDC2c.702T>C (p.Phe234=)
gnomAD v4
6g.24290934A>TCA363280075DCDC2c.702T>A (p.Phe234Leu)
6g.24290937delCA2677515148DCDC2c.702del (p.Phe234LeufsTer12)
gnomAD v4
6g.24290935A>CCA363280078DCDC2c.701T>G (p.Phe234Cys)
6g.24290935A>GCA363280081DCDC2c.701T>C (p.Phe234Ser)
gnomAD v4
6g.24290935A>TCA363280083DCDC2c.701T>A (p.Phe234Tyr)
6g.24290936A>CCA363280085DCDC2c.700T>G (p.Phe234Val)
6g.24290936A>GCA363280087DCDC2c.700T>C (p.Phe234Leu)
6g.24290936A>TCA363280089DCDC2c.700T>A (p.Phe234Ile)
6g.24290937A>CCA448951162DCDC2c.699T>G (p.Pro233=)
6g.24290937A>GCA448951163DCDC2c.699T>C (p.Pro233=)
6g.24290937A>TCA448951164DCDC2c.699T>A (p.Pro233=)
gnomAD v4
6g.24290938G>ACA363280098DCDC2c.698C>T (p.Pro233Leu)
dbSNP gnomAD v2 gnomAD v4
6g.24290938G>CCA363280093DCDC2c.698C>G (p.Pro233Arg)
6g.24290938G=CA1616446729DCDC2c.698C= (p.Pro233=)
6g.24290938G>TCA363280091DCDC2c.698C>A (p.Pro233His)
6g.24290939G>ACA363280111DCDC2c.697C>T (p.Pro233Ser)
gnomAD v4
6g.24290939G>CCA363280104DCDC2c.697C>G (p.Pro233Ala)
6g.24290939G>TCA363280113DCDC2c.697C>A (p.Pro233Thr)
6g.24290940C>ACA3654694DCDC2c.696G>T (p.Arg232Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24290940C=CA1616446734DCDC2c.696G= (p.Arg232=)
6g.24290940C>GCA363280120DCDC2c.696G>C (p.Arg232Ser)
dbSNP gnomAD v3 gnomAD v4
6g.24290940C>TCA448951165DCDC2c.696G>A (p.Arg232=)
ClinVar dbSNP gnomAD v4
6g.24290941C>ACA363280123DCDC2c.695G>T (p.Arg232Met)
6g.24290941C>GCA363280124DCDC2c.695G>C (p.Arg232Thr)
6g.24290941C>TCA363280126DCDC2c.695G>A (p.Arg232Lys)
6g.24290942T>ACA363280128DCDC2c.694A>T (p.Arg232Trp)
6g.24290942T>CCA363280130DCDC2c.694A>G (p.Arg232Gly)
6g.24290942T>GCA448951166DCDC2c.694A>C (p.Arg232=)
6g.24290943T>ACA363280132DCDC2c.693A>T (p.Arg231Ser)
6g.24290943T>CCA3654695DCDC2c.693A>G (p.Arg231=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24290943T>GCA363280137DCDC2c.693A>C (p.Arg231Ser)
6g.24290943T=CA1616446738DCDC2c.693A= (p.Arg231=)

Number of alleles fetched