Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.130592944_130592950dupCA2661125015CFC1c.606_612dup (p.Ser205GlyfsTer?)
c.491_497dup (p.Pro167ValfsTer22)
c.381_387dup (p.Ser130GlyfsTer?)
 gnomAD v4
2g.130592944_130592950delCA2661125016CFC1c.606_612del (p.Val203ProfsTer26)
c.491_497del (p.Trp164PhefsTer?)
c.381_387del (p.Val128ProfsTer26)
 gnomAD v4
2g.130592943delCA2752191865CFC1c.607del (p.Val203SerfsTer28)
c.492del (p.Trp164CysfsTer?)
c.382del (p.Val128SerfsTer28)
2g.130592943C>ACA348502355CFC1c.606G>T (p.Leu202=)
c.491G>T (p.Trp164Leu)
c.381G>T (p.Leu127=)
 gnomAD v4
2g.130592943C=CA1288363464CFC1c.606G= (p.Leu202=)
c.491G= (p.Trp164=)
c.381G= (p.Leu127=)
2g.130592943C>GCA290060CFC1c.606G>C (p.Leu202=)
c.491G>C (p.Trp164Ser)
c.381G>C (p.Leu127=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.130592943C>TCA348502356CFC1c.606G>A (p.Leu202=)
c.491G>A (p.Trp164Ter)
c.381G>A (p.Leu127=)
 dbSNP
2g.130592944A>CCA348502357CFC1c.605T>G (p.Leu202Arg)
c.490T>G (p.Trp164Gly)
c.380T>G (p.Leu127Arg)
2g.130592944A>GCA348502358CFC1c.605T>C (p.Leu202Pro)
c.490T>C (p.Trp164Arg)
c.380T>C (p.Leu127Pro)
2g.130592944A>TCA348502359CFC1c.605T>A (p.Leu202Gln)
c.490T>A (p.Trp164Arg)
c.380T>A (p.Leu127Gln)
2g.130592945G>ACA428885195CFC1c.604C>T (p.Leu202=)
c.489C>T (p.Pro163=)
c.379C>T (p.Leu127=)
 gnomAD v4
2g.130592945G>CCA348502361CFC1c.604C>G (p.Leu202Val)
c.489C>G (p.Pro163=)
c.379C>G (p.Leu127Val)
 gnomAD v4
2g.130592945G>TCA348502360CFC1c.604C>A (p.Leu202Met)
c.489C>A (p.Pro163=)
c.379C>A (p.Leu127Met)
2g.130592946G>ACA348502362CFC1c.603C>T (p.Ser201=)
c.488C>T (p.Pro163Leu)
c.378C>T (p.Ser126=)
 gnomAD v4
2g.130592946G>CCA348502363CFC1c.603C>G (p.Ser201=)
c.488C>G (p.Pro163Arg)
c.378C>G (p.Ser126=)
2g.130592946G>TCA348502364CFC1c.603C>A (p.Ser201=)
c.488C>A (p.Pro163His)
c.378C>A (p.Ser126=)
2g.130592947G>ACA348502365CFC1c.602C>T (p.Ser201Phe)
c.487C>T (p.Pro163Ser)
c.377C>T (p.Ser126Phe)
2g.130592947G>CCA348502366CFC1c.602C>G (p.Ser201Cys)
c.487C>G (p.Pro163Ala)
c.377C>G (p.Ser126Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.130592947G=CA1288363465CFC1c.602C= (p.Ser201=)
c.487C= (p.Pro163=)
c.377C= (p.Ser126=)
2g.130592947G>TCA348502367CFC1c.602C>A (p.Ser201Tyr)
c.487C>A (p.Pro163Thr)
c.377C>A (p.Ser126Tyr)
2g.130592948A=CA1288363466CFC1c.601T= (p.Ser201=)
c.486T= (p.Gly162=)
c.376T= (p.Ser126=)
2g.130592948A>CCA348502368CFC1c.601T>G (p.Ser201Ala)
c.486T>G (p.Gly162=)
c.376T>G (p.Ser126Ala)
 dbSNP gnomAD v4
2g.130592948A>GCA348502369CFC1c.601T>C (p.Ser201Pro)
c.486T>C (p.Gly162=)
c.376T>C (p.Ser126Pro)
2g.130592948A>TCA348502370CFC1c.601T>A (p.Ser201Thr)
c.486T>A (p.Gly162=)
c.376T>A (p.Ser126Thr)
2g.130592949C>ACA290057CFC1c.600G>T (p.Arg200=)
c.485G>T (p.Gly162Val)
c.375G>T (p.Arg125=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592949C=CA1288363467CFC1c.600G= (p.Arg200=)
c.485G= (p.Gly162=)
c.375G= (p.Arg125=)
2g.130592949C>GCA348502371CFC1c.600G>C (p.Arg200=)
c.485G>C (p.Gly162Ala)
c.375G>C (p.Arg125=)
2g.130592949C>TCA348502372CFC1c.600G>A (p.Arg200=)
c.485G>A (p.Gly162Asp)
c.375G>A (p.Arg125=)
 gnomAD v4
2g.130592950C>ACA348502375CFC1c.599G>T (p.Arg200Leu)
c.484G>T (p.Gly162Cys)
c.374G>T (p.Arg125Leu)
2g.130592950C=CA1288363468CFC1c.599G= (p.Arg200=)
c.484G= (p.Gly162=)
c.374G= (p.Arg125=)
2g.130592950C>GCA348502374CFC1c.599G>C (p.Arg200Pro)
c.484G>C (p.Gly162Arg)
c.374G>C (p.Arg125Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.130592950C>TCA348502373CFC1c.599G>A (p.Arg200Gln)
c.484G>A (p.Gly162Ser)
c.374G>A (p.Arg125Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592951G>ACA348502377CFC1c.598C>T (p.Arg200Trp)
c.483C>T (p.Leu161=)
c.373C>T (p.Arg125Trp)
 dbSNP gnomAD v3 gnomAD v4
2g.130592951G>CCA348502376CFC1c.598C>G (p.Arg200Gly)
c.483C>G (p.Leu161=)
c.373C>G (p.Arg125Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592951G=CA1288363469CFC1c.598C= (p.Arg200=)
c.483C= (p.Leu161=)
c.373C= (p.Arg125=)
2g.130592951G>TCA428885205CFC1c.598C>A (p.Arg200=)
c.483C>A (p.Leu161=)
c.373C>A (p.Arg125=)
 gnomAD v4
2g.130592952A=CA1288363470CFC1c.597T= (p.Pro199=)
c.482T= (p.Leu161=)
c.372T= (p.Pro124=)
2g.130592952A>CCA348502378CFC1c.597T>G (p.Pro199=)
c.482T>G (p.Leu161Arg)
c.372T>G (p.Pro124=)
 dbSNP gnomAD v2 gnomAD v4
2g.130592952A>GCA348502379CFC1c.597T>C (p.Pro199=)
c.482T>C (p.Leu161Pro)
c.372T>C (p.Pro124=)
2g.130592952A>TCA348502380CFC1c.597T>A (p.Pro199=)
c.482T>A (p.Leu161His)
c.372T>A (p.Pro124=)
2g.130592952dupCA2661125017CFC1c.597dup (p.Arg200SerfsTer?)
c.482dup (p.Gly162ArgfsTer25)
c.372dup (p.Arg125SerfsTer?)
 gnomAD v4
2g.130592953G>ACA348502381CFC1c.596C>T (p.Pro199Leu)
c.481C>T (p.Leu161Phe)
c.371C>T (p.Pro124Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592953G>CCA348502382CFC1c.596C>G (p.Pro199Arg)
c.481C>G (p.Leu161Val)
c.371C>G (p.Pro124Arg)
2g.130592953G=CA1288363471CFC1c.596C= (p.Pro199=)
c.481C= (p.Leu161=)
c.371C= (p.Pro124=)
2g.130592953G>TCA348502383CFC1c.596C>A (p.Pro199His)
c.481C>A (p.Leu161Ile)
c.371C>A (p.Pro124His)
2g.130592954G>ACA348502384CFC1c.595C>T (p.Pro199Ser)
c.480C>T (p.Thr160=)
c.370C>T (p.Pro124Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.130592954G>CCA348502385CFC1c.595C>G (p.Pro199Ala)
c.480C>G (p.Thr160=)
c.370C>G (p.Pro124Ala)
2g.130592954G=CA1288363472CFC1c.595C= (p.Pro199=)
c.480C= (p.Thr160=)
c.370C= (p.Pro124=)
2g.130592954G>TCA348502386CFC1c.595C>A (p.Pro199Thr)
c.480C>A (p.Thr160=)
c.370C>A (p.Pro124Thr)
2g.130592955G>ACA348502387CFC1c.594C>T (p.His198=)
c.479C>T (p.Thr160Ile)
c.369C>T (p.His123=)

Number of alleles fetched