Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237359333_237360158delinsATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCA1337617482COL6A3c.5594_5691+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT
c.6212_6309+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT
c.4391_4488+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT
c.5612_5709+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT
c.4991_5088+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT
c.5711_5808+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT
c.6209_6306+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT
c.3806_3903+29delinsGTGAGCGTGGTCCGCCTGGTGTGAACGGCACTCAAGGTTTCCAGGGCTGCCCGGGCCAGAGAGGAGTAAAGGTGAGGCGTGGGTGATGGGGTTGCTAGCGTGGGGAGGGGTCAGGTGACTCGCAGTTTCTCCAGATGCTGCCAGGGAGGGAGGCGCTGGTCCAGGCTTCTTGACCTCAGCATTCAGCAGCCCGTGACCTCTCATTGGAAGGCAGTTCTGAGCAGGGTGGGTTCAGGAGCAGGGGCTGCAGCTGGTGGGGAGCCTGAGAATGGAGAAATAGTTTCCTGTGGAAACATGAAGAAGCCAGGAAACCCTCACAAGGAGAGAACATGGGCCAGGGCGGAGGGTAGGCTGGTGCCCACGGCCCCGGCCCTGGACCGTGGGAGCAGTCAGGGAAGGGAGTGGAGTGAGAGGACAGCAGGTGGGTTGAAGGCTGGTGAACTTGCTTCTCTGTTTGCTGAAGTTTGAAGGCAGGTGCTGAAGGGAAGGGCTGCAAAGTTACAAAGTCAGCTCCTTGCCCTGGGTTTTGGGGTCCACCCCCGCCGGCCCAGGGAGCCAAGACCACCCAAGCATTCAGTTCTAGTTTTAGTTTTAAAACATCGCACGTGGTGGTGAGAGAGGAATCCAAAGGGGTAGGACTCTAATATTACATTTTCAGACACTGCAACATTCAAATGGGGTGGAGTGGGGGAACAGCCCTTGGCCTCTTCTGCCCGAGGGACCAGCCCTGCAGGAAAAGCTAATGCTTCCCCTATCGCCTTGCCTTCTAGGGCTCTCGGGGATTCCCAGGAGAGAAGGTATGCAAGCTTGGTTTTGTTTTACAAAT
2g.237359334_237360158delCA658796209COL6A3c.5594_5691+28del
c.6212_6309+28del
c.4391_4488+28del
c.5612_5709+28del
c.4991_5088+28del
c.5711_5808+28del
c.6209_6306+28del
c.3806_3903+28del
ClinVar dbSNP
2g.237360131C>ACA351216628COL6A3c.5621G>T (p.Gly1874Val)
c.6239G>T (p.Gly2080Val)
c.4418G>T (p.Gly1473Val)
c.5639G>T (p.Gly1880Val)
c.5018G>T (p.Gly1673Val)
c.5738G>T (p.Gly1913Val)
c.6236G>T (p.Gly2079Val)
c.3833G>T (p.Gly1278Val)
ClinVar dbSNP
2g.237360131C=CA1337617822COL6A3c.5621G= (p.Gly1874=)
c.6239G= (p.Gly2080=)
c.4418G= (p.Gly1473=)
c.5639G= (p.Gly1880=)
c.5018G= (p.Gly1673=)
c.5738G= (p.Gly1913=)
c.6236G= (p.Gly2079=)
c.3833G= (p.Gly1278=)
2g.237360131C>GCA351216630COL6A3c.5621G>C (p.Gly1874Ala)
c.6239G>C (p.Gly2080Ala)
c.4418G>C (p.Gly1473Ala)
c.5639G>C (p.Gly1880Ala)
c.5018G>C (p.Gly1673Ala)
c.5738G>C (p.Gly1913Ala)
c.6236G>C (p.Gly2079Ala)
c.3833G>C (p.Gly1278Ala)
2g.237360131C>TCA275040COL6A3c.5621G>A (p.Gly1874Asp)
c.6239G>A (p.Gly2080Asp)
c.4418G>A (p.Gly1473Asp)
c.5639G>A (p.Gly1880Asp)
c.5018G>A (p.Gly1673Asp)
c.5738G>A (p.Gly1913Asp)
c.6236G>A (p.Gly2079Asp)
c.3833G>A (p.Gly1278Asp)
ClinVar dbSNP
2g.237360132C>ACA351216633COL6A3c.5620G>T (p.Gly1874Cys)
c.6238G>T (p.Gly2080Cys)
c.4417G>T (p.Gly1473Cys)
c.5638G>T (p.Gly1880Cys)
c.5017G>T (p.Gly1673Cys)
c.5737G>T (p.Gly1913Cys)
c.6235G>T (p.Gly2079Cys)
c.3832G>T (p.Gly1278Cys)
2g.237360132C=CA1337617823COL6A3c.5620G= (p.Gly1874=)
c.6238G= (p.Gly2080=)
c.4417G= (p.Gly1473=)
c.5638G= (p.Gly1880=)
c.5017G= (p.Gly1673=)
c.5737G= (p.Gly1913=)
c.6235G= (p.Gly2079=)
c.3832G= (p.Gly1278=)
2g.237360132C>GCA351216634COL6A3c.5620G>C (p.Gly1874Arg)
c.6238G>C (p.Gly2080Arg)
c.4417G>C (p.Gly1473Arg)
c.5638G>C (p.Gly1880Arg)
c.5017G>C (p.Gly1673Arg)
c.5737G>C (p.Gly1913Arg)
c.6235G>C (p.Gly2079Arg)
c.3832G>C (p.Gly1278Arg)
ClinVar dbSNP
2g.237360132C>TCA351216635COL6A3c.5620G>A (p.Gly1874Ser)
c.6238G>A (p.Gly2080Ser)
c.4417G>A (p.Gly1473Ser)
c.5638G>A (p.Gly1880Ser)
c.5017G>A (p.Gly1673Ser)
c.5737G>A (p.Gly1913Ser)
c.6235G>A (p.Gly2079Ser)
c.3832G>A (p.Gly1278Ser)
ClinVar dbSNP COSMIC
2g.237360133G>ACA2188393COL6A3c.5619C>T (p.Asn1873=)
c.6237C>T (p.Asn2079=)
c.4416C>T (p.Asn1472=)
c.5637C>T (p.Asn1879=)
c.5016C>T (p.Asn1672=)
c.5736C>T (p.Asn1912=)
c.6234C>T (p.Asn2078=)
c.3831C>T (p.Asn1277=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237360133G>CCA351216637COL6A3c.5619C>G (p.Asn1873Lys)
c.6237C>G (p.Asn2079Lys)
c.4416C>G (p.Asn1472Lys)
c.5637C>G (p.Asn1879Lys)
c.5016C>G (p.Asn1672Lys)
c.5736C>G (p.Asn1912Lys)
c.6234C>G (p.Asn2078Lys)
c.3831C>G (p.Asn1277Lys)
2g.237360133G=CA1337617824COL6A3c.5619C= (p.Asn1873=)
c.6237C= (p.Asn2079=)
c.4416C= (p.Asn1472=)
c.5637C= (p.Asn1879=)
c.5016C= (p.Asn1672=)
c.5736C= (p.Asn1912=)
c.6234C= (p.Asn2078=)
c.3831C= (p.Asn1277=)
2g.237360133G>TCA351216636COL6A3c.5619C>A (p.Asn1873Lys)
c.6237C>A (p.Asn2079Lys)
c.4416C>A (p.Asn1472Lys)
c.5637C>A (p.Asn1879Lys)
c.5016C>A (p.Asn1672Lys)
c.5736C>A (p.Asn1912Lys)
c.6234C>A (p.Asn2078Lys)
c.3831C>A (p.Asn1277Lys)
2g.237360134T>ACA351216639COL6A3c.5618A>T (p.Asn1873Ile)
c.6236A>T (p.Asn2079Ile)
c.4415A>T (p.Asn1472Ile)
c.5636A>T (p.Asn1879Ile)
c.5015A>T (p.Asn1672Ile)
c.5735A>T (p.Asn1912Ile)
c.6233A>T (p.Asn2078Ile)
c.3830A>T (p.Asn1277Ile)
2g.237360134T>CCA351216641COL6A3c.5618A>G (p.Asn1873Ser)
c.6236A>G (p.Asn2079Ser)
c.4415A>G (p.Asn1472Ser)
c.5636A>G (p.Asn1879Ser)
c.5015A>G (p.Asn1672Ser)
c.5735A>G (p.Asn1912Ser)
c.6233A>G (p.Asn2078Ser)
c.3830A>G (p.Asn1277Ser)
ClinVar
2g.237360134T>GCA351216644COL6A3c.5618A>C (p.Asn1873Thr)
c.6236A>C (p.Asn2079Thr)
c.4415A>C (p.Asn1472Thr)
c.5636A>C (p.Asn1879Thr)
c.5015A>C (p.Asn1672Thr)
c.5735A>C (p.Asn1912Thr)
c.6233A>C (p.Asn2078Thr)
c.3830A>C (p.Asn1277Thr)
2g.237360135T>ACA351216647COL6A3c.5617A>T (p.Asn1873Tyr)
c.6235A>T (p.Asn2079Tyr)
c.4414A>T (p.Asn1472Tyr)
c.5635A>T (p.Asn1879Tyr)
c.5014A>T (p.Asn1672Tyr)
c.5734A>T (p.Asn1912Tyr)
c.6232A>T (p.Asn2078Tyr)
c.3829A>T (p.Asn1277Tyr)
ClinVar dbSNP
2g.237360135T>CCA351216648COL6A3c.5617A>G (p.Asn1873Asp)
c.6235A>G (p.Asn2079Asp)
c.4414A>G (p.Asn1472Asp)
c.5635A>G (p.Asn1879Asp)
c.5014A>G (p.Asn1672Asp)
c.5734A>G (p.Asn1912Asp)
c.6232A>G (p.Asn2078Asp)
c.3829A>G (p.Asn1277Asp)
2g.237360135T>GCA351216650COL6A3c.5617A>C (p.Asn1873His)
c.6235A>C (p.Asn2079His)
c.4414A>C (p.Asn1472His)
c.5635A>C (p.Asn1879His)
c.5014A>C (p.Asn1672His)
c.5734A>C (p.Asn1912His)
c.6232A>C (p.Asn2078His)
c.3829A>C (p.Asn1277His)
2g.237360136C>ACA431678465COL6A3c.5616G>T (p.Val1872=)
c.6234G>T (p.Val2078=)
c.4413G>T (p.Val1471=)
c.5634G>T (p.Val1878=)
c.5013G>T (p.Val1671=)
c.5733G>T (p.Val1911=)
c.6231G>T (p.Val2077=)
c.3828G>T (p.Val1276=)
gnomAD v4
2g.237360136C=CA1337617825COL6A3c.5616G= (p.Val1872=)
c.6234G= (p.Val2078=)
c.4413G= (p.Val1471=)
c.5634G= (p.Val1878=)
c.5013G= (p.Val1671=)
c.5733G= (p.Val1911=)
c.6231G= (p.Val2077=)
c.3828G= (p.Val1276=)
2g.237360136C>GCA431678466COL6A3c.5616G>C (p.Val1872=)
c.6234G>C (p.Val2078=)
c.4413G>C (p.Val1471=)
c.5634G>C (p.Val1878=)
c.5013G>C (p.Val1671=)
c.5733G>C (p.Val1911=)
c.6231G>C (p.Val2077=)
c.3828G>C (p.Val1276=)
COSMIC
2g.237360136C>TCA2188394COL6A3c.5616G>A (p.Val1872=)
c.6234G>A (p.Val2078=)
c.4413G>A (p.Val1471=)
c.5634G>A (p.Val1878=)
c.5013G>A (p.Val1671=)
c.5733G>A (p.Val1911=)
c.6231G>A (p.Val2077=)
c.3828G>A (p.Val1276=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237360137A>CCA351216654COL6A3c.5615T>G (p.Val1872Gly)
c.6233T>G (p.Val2078Gly)
c.4412T>G (p.Val1471Gly)
c.5633T>G (p.Val1878Gly)
c.5012T>G (p.Val1671Gly)
c.5732T>G (p.Val1911Gly)
c.6230T>G (p.Val2077Gly)
c.3827T>G (p.Val1276Gly)
2g.237360137A>GCA351216657COL6A3c.5615T>C (p.Val1872Ala)
c.6233T>C (p.Val2078Ala)
c.4412T>C (p.Val1471Ala)
c.5633T>C (p.Val1878Ala)
c.5012T>C (p.Val1671Ala)
c.5732T>C (p.Val1911Ala)
c.6230T>C (p.Val2077Ala)
c.3827T>C (p.Val1276Ala)
2g.237360137A>TCA351216658COL6A3c.5615T>A (p.Val1872Glu)
c.6233T>A (p.Val2078Glu)
c.4412T>A (p.Val1471Glu)
c.5633T>A (p.Val1878Glu)
c.5012T>A (p.Val1671Glu)
c.5732T>A (p.Val1911Glu)
c.6230T>A (p.Val2077Glu)
c.3827T>A (p.Val1276Glu)
2g.237360138C>ACA351216661COL6A3c.5614G>T (p.Val1872Leu)
c.6232G>T (p.Val2078Leu)
c.4411G>T (p.Val1471Leu)
c.5632G>T (p.Val1878Leu)
c.5011G>T (p.Val1671Leu)
c.5731G>T (p.Val1911Leu)
c.6229G>T (p.Val2077Leu)
c.3826G>T (p.Val1276Leu)
2g.237360138C>GCA351216663COL6A3c.5614G>C (p.Val1872Leu)
c.6232G>C (p.Val2078Leu)
c.4411G>C (p.Val1471Leu)
c.5632G>C (p.Val1878Leu)
c.5011G>C (p.Val1671Leu)
c.5731G>C (p.Val1911Leu)
c.6229G>C (p.Val2077Leu)
c.3826G>C (p.Val1276Leu)
ClinVar dbSNP
2g.237360138C>TCA351216664COL6A3c.5614G>A (p.Val1872Met)
c.6232G>A (p.Val2078Met)
c.4411G>A (p.Val1471Met)
c.5632G>A (p.Val1878Met)
c.5011G>A (p.Val1671Met)
c.5731G>A (p.Val1911Met)
c.6229G>A (p.Val2077Met)
c.3826G>A (p.Val1276Met)
ClinVar
2g.237360139A>CCA431678467COL6A3c.5613T>G (p.Gly1871=)
c.6231T>G (p.Gly2077=)
c.4410T>G (p.Gly1470=)
c.5631T>G (p.Gly1877=)
c.5010T>G (p.Gly1670=)
c.5730T>G (p.Gly1910=)
c.6228T>G (p.Gly2076=)
c.3825T>G (p.Gly1275=)
2g.237360139A>GCA431678469COL6A3c.5613T>C (p.Gly1871=)
c.6231T>C (p.Gly2077=)
c.4410T>C (p.Gly1470=)
c.5631T>C (p.Gly1877=)
c.5010T>C (p.Gly1670=)
c.5730T>C (p.Gly1910=)
c.6228T>C (p.Gly2076=)
c.3825T>C (p.Gly1275=)
gnomAD v4
2g.237360139A>TCA431678468COL6A3c.5613T>A (p.Gly1871=)
c.6231T>A (p.Gly2077=)
c.4410T>A (p.Gly1470=)
c.5631T>A (p.Gly1877=)
c.5010T>A (p.Gly1670=)
c.5730T>A (p.Gly1910=)
c.6228T>A (p.Gly2076=)
c.3825T>A (p.Gly1275=)
COSMIC
2g.237360140C>ACA351216678COL6A3c.5612G>T (p.Gly1871Val)
c.6230G>T (p.Gly2077Val)
c.4409G>T (p.Gly1470Val)
c.5630G>T (p.Gly1877Val)
c.5009G>T (p.Gly1670Val)
c.5729G>T (p.Gly1910Val)
c.6227G>T (p.Gly2076Val)
c.3824G>T (p.Gly1275Val)
ClinVar dbSNP
2g.237360140C=CA1337617826COL6A3c.5612G= (p.Gly1871=)
c.6230G= (p.Gly2077=)
c.4409G= (p.Gly1470=)
c.5630G= (p.Gly1877=)
c.5009G= (p.Gly1670=)
c.5729G= (p.Gly1910=)
c.6227G= (p.Gly2076=)
c.3824G= (p.Gly1275=)
2g.237360140C>GCA351216673COL6A3c.5612G>C (p.Gly1871Ala)
c.6230G>C (p.Gly2077Ala)
c.4409G>C (p.Gly1470Ala)
c.5630G>C (p.Gly1877Ala)
c.5009G>C (p.Gly1670Ala)
c.5729G>C (p.Gly1910Ala)
c.6227G>C (p.Gly2076Ala)
c.3824G>C (p.Gly1275Ala)
dbSNP
2g.237360140C>TCA351216671COL6A3c.5612G>A (p.Gly1871Asp)
c.6230G>A (p.Gly2077Asp)
c.4409G>A (p.Gly1470Asp)
c.5630G>A (p.Gly1877Asp)
c.5009G>A (p.Gly1670Asp)
c.5729G>A (p.Gly1910Asp)
c.6227G>A (p.Gly2076Asp)
c.3824G>A (p.Gly1275Asp)
ClinVar dbSNP
2g.237360141C>ACA351216679COL6A3c.5611G>T (p.Gly1871Cys)
c.6229G>T (p.Gly2077Cys)
c.4408G>T (p.Gly1470Cys)
c.5629G>T (p.Gly1877Cys)
c.5008G>T (p.Gly1670Cys)
c.5728G>T (p.Gly1910Cys)
c.6226G>T (p.Gly2076Cys)
c.3823G>T (p.Gly1275Cys)
2g.237360141C>GCA351216681COL6A3c.5611G>C (p.Gly1871Arg)
c.6229G>C (p.Gly2077Arg)
c.4408G>C (p.Gly1470Arg)
c.5629G>C (p.Gly1877Arg)
c.5008G>C (p.Gly1670Arg)
c.5728G>C (p.Gly1910Arg)
c.6226G>C (p.Gly2076Arg)
c.3823G>C (p.Gly1275Arg)
2g.237360141C>TCA351216682COL6A3c.5611G>A (p.Gly1871Ser)
c.6229G>A (p.Gly2077Ser)
c.4408G>A (p.Gly1470Ser)
c.5629G>A (p.Gly1877Ser)
c.5008G>A (p.Gly1670Ser)
c.5728G>A (p.Gly1910Ser)
c.6226G>A (p.Gly2076Ser)
c.3823G>A (p.Gly1275Ser)
2g.237360142A>CCA431678472COL6A3c.5610T>G (p.Pro1870=)
c.6228T>G (p.Pro2076=)
c.4407T>G (p.Pro1469=)
c.5628T>G (p.Pro1876=)
c.5007T>G (p.Pro1669=)
c.5727T>G (p.Pro1909=)
c.6225T>G (p.Pro2075=)
c.3822T>G (p.Pro1274=)
2g.237360142A>GCA431678470COL6A3c.5610T>C (p.Pro1870=)
c.6228T>C (p.Pro2076=)
c.4407T>C (p.Pro1469=)
c.5628T>C (p.Pro1876=)
c.5007T>C (p.Pro1669=)
c.5727T>C (p.Pro1909=)
c.6225T>C (p.Pro2075=)
c.3822T>C (p.Pro1274=)
2g.237360142A>TCA431678471COL6A3c.5610T>A (p.Pro1870=)
c.6228T>A (p.Pro2076=)
c.4407T>A (p.Pro1469=)
c.5628T>A (p.Pro1876=)
c.5007T>A (p.Pro1669=)
c.5727T>A (p.Pro1909=)
c.6225T>A (p.Pro2075=)
c.3822T>A (p.Pro1274=)
2g.237360143G>ACA351216685COL6A3c.5609C>T (p.Pro1870Leu)
c.6227C>T (p.Pro2076Leu)
c.4406C>T (p.Pro1469Leu)
c.5627C>T (p.Pro1876Leu)
c.5006C>T (p.Pro1669Leu)
c.5726C>T (p.Pro1909Leu)
c.6224C>T (p.Pro2075Leu)
c.3821C>T (p.Pro1274Leu)
2g.237360143G>CCA351216688COL6A3c.5609C>G (p.Pro1870Arg)
c.6227C>G (p.Pro2076Arg)
c.4406C>G (p.Pro1469Arg)
c.5627C>G (p.Pro1876Arg)
c.5006C>G (p.Pro1669Arg)
c.5726C>G (p.Pro1909Arg)
c.6224C>G (p.Pro2075Arg)
c.3821C>G (p.Pro1274Arg)
gnomAD v4
2g.237360143G>TCA351216690COL6A3c.5609C>A (p.Pro1870His)
c.6227C>A (p.Pro2076His)
c.4406C>A (p.Pro1469His)
c.5627C>A (p.Pro1876His)
c.5006C>A (p.Pro1669His)
c.5726C>A (p.Pro1909His)
c.6224C>A (p.Pro2075His)
c.3821C>A (p.Pro1274His)
2g.237360144G>ACA351216692COL6A3c.5608C>T (p.Pro1870Ser)
c.6226C>T (p.Pro2076Ser)
c.4405C>T (p.Pro1469Ser)
c.5626C>T (p.Pro1876Ser)
c.5005C>T (p.Pro1669Ser)
c.5725C>T (p.Pro1909Ser)
c.6223C>T (p.Pro2075Ser)
c.3820C>T (p.Pro1274Ser)
2g.237360144G>CCA351216697COL6A3c.5608C>G (p.Pro1870Ala)
c.6226C>G (p.Pro2076Ala)
c.4405C>G (p.Pro1469Ala)
c.5626C>G (p.Pro1876Ala)
c.5005C>G (p.Pro1669Ala)
c.5725C>G (p.Pro1909Ala)
c.6223C>G (p.Pro2075Ala)
c.3820C>G (p.Pro1274Ala)
2g.237360144G>TCA351216698COL6A3c.5608C>A (p.Pro1870Thr)
c.6226C>A (p.Pro2076Thr)
c.4405C>A (p.Pro1469Thr)
c.5626C>A (p.Pro1876Thr)
c.5005C>A (p.Pro1669Thr)
c.5725C>A (p.Pro1909Thr)
c.6223C>A (p.Pro2075Thr)
c.3820C>A (p.Pro1274Thr)
2g.237360144_237360155delinsGCGGACCACGCTCA1337617827COL6A3c.5597_5608delinsAGCGTGGTCCGC (p.Glu1866=)
c.6215_6226delinsAGCGTGGTCCGC (p.Glu2072=)
c.4394_4405delinsAGCGTGGTCCGC (p.Glu1465=)
c.5615_5626delinsAGCGTGGTCCGC (p.Glu1872=)
c.4994_5005delinsAGCGTGGTCCGC (p.Glu1665=)
c.5714_5725delinsAGCGTGGTCCGC (p.Glu1905=)
c.6212_6223delinsAGCGTGGTCCGC (p.Glu2071=)
c.3809_3820delinsAGCGTGGTCCGC (p.Glu1270=)

Number of alleles fetched