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.237359377_237359716delCA2573135586COL6A3c.5665-326_5678del
c.6283-326_6296del
c.4462-326_4475del
c.5683-326_5696del
c.5062-326_5075del
c.5782-326_5795del
c.6280-326_6293del
c.3877-326_3890del
 ClinVar dbSNP
2g.237359388C>ACA351216331COL6A3c.5665G>T (p.Gly1889Cys)
c.6283G>T (p.Gly2095Cys)
c.4462G>T (p.Gly1488Cys)
c.5683G>T (p.Gly1895Cys)
c.5062G>T (p.Gly1688Cys)
c.5782G>T (p.Gly1928Cys)
c.6280G>T (p.Gly2094Cys)
c.3877G>T (p.Gly1293Cys)
2g.237359388C>GCA351216335COL6A3c.5665G>C (p.Gly1889Arg)
c.6283G>C (p.Gly2095Arg)
c.4462G>C (p.Gly1488Arg)
c.5683G>C (p.Gly1895Arg)
c.5062G>C (p.Gly1688Arg)
c.5782G>C (p.Gly1928Arg)
c.6280G>C (p.Gly2094Arg)
c.3877G>C (p.Gly1293Arg)
2g.237359388C>TCA351216333COL6A3c.5665G>A (p.Gly1889Ser)
c.6283G>A (p.Gly2095Ser)
c.4462G>A (p.Gly1488Ser)
c.5683G>A (p.Gly1895Ser)
c.5062G>A (p.Gly1688Ser)
c.5782G>A (p.Gly1928Ser)
c.6280G>A (p.Gly2094Ser)
c.3877G>A (p.Gly1293Ser)
2g.237359389C>ACA351216337COL6A3c.5665-1G>T (n.5665-1G>T)
c.6283-1G>T (n.6283-1G>T)
c.4462-1G>T (n.4462-1G>T)
c.5683-1G>T (n.5683-1G>T)
c.5062-1G>T (n.5062-1G>T)
c.5782-1G>T (n.5782-1G>T)
c.6280-1G>T (n.6280-1G>T)
c.3877-1G>T (n.3877-1G>T)
2g.237359389C>GCA351216341COL6A3c.5665-1G>C (n.5665-1G>C)
c.6283-1G>C (n.6283-1G>C)
c.4462-1G>C (n.4462-1G>C)
c.5683-1G>C (n.5683-1G>C)
c.5062-1G>C (n.5062-1G>C)
c.5782-1G>C (n.5782-1G>C)
c.6280-1G>C (n.6280-1G>C)
c.3877-1G>C (n.3877-1G>C)
2g.237359389C>TCA351216339COL6A3c.5665-1G>A (n.5665-1G>A)
c.6283-1G>A (n.6283-1G>A)
c.4462-1G>A (n.4462-1G>A)
c.5683-1G>A (n.5683-1G>A)
c.5062-1G>A (n.5062-1G>A)
c.5782-1G>A (n.5782-1G>A)
c.6280-1G>A (n.6280-1G>A)
c.3877-1G>A (n.3877-1G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.237359390T>ACA351216343COL6A3c.5665-2A>T (n.5665-2A>T)
c.6283-2A>T (n.6283-2A>T)
c.4462-2A>T (n.4462-2A>T)
c.5683-2A>T (n.5683-2A>T)
c.5062-2A>T (n.5062-2A>T)
c.5782-2A>T (n.5782-2A>T)
c.6280-2A>T (n.6280-2A>T)
c.3877-2A>T (n.3877-2A>T)
2g.237359390T>CCA351216344COL6A3c.5665-2A>G (n.5665-2A>G)
c.6283-2A>G (n.6283-2A>G)
c.4462-2A>G (n.4462-2A>G)
c.5683-2A>G (n.5683-2A>G)
c.5062-2A>G (n.5062-2A>G)
c.5782-2A>G (n.5782-2A>G)
c.6280-2A>G (n.6280-2A>G)
c.3877-2A>G (n.3877-2A>G)
 ClinVar dbSNP
2g.237359390T>GCA275964COL6A3c.5665-2A>C (n.5665-2A>C)
c.6283-2A>C (n.6283-2A>C)
c.4462-2A>C (n.4462-2A>C)
c.5683-2A>C (n.5683-2A>C)
c.5062-2A>C (n.5062-2A>C)
c.5782-2A>C (n.5782-2A>C)
c.6280-2A>C (n.6280-2A>C)
c.3877-2A>C (n.3877-2A>C)
 ClinVar dbSNP
2g.237359390T=CA1337617504COL6A3c.5665-2A= (n.5665-2A=)
c.6283-2A= (n.6283-2A=)
c.4462-2A= (n.4462-2A=)
c.5683-2A= (n.5683-2A=)
c.5062-2A= (n.5062-2A=)
c.5782-2A= (n.5782-2A=)
c.6280-2A= (n.6280-2A=)
c.3877-2A= (n.3877-2A=)
2g.237359390delinsAGGAGAGCCCAGGCA2586971655COL6A3c.5665-2delinsCCTGGGCTCTCCT (n.5665-2delinsCCTGGGCTCTCCT)
c.6283-2delinsCCTGGGCTCTCCT (n.6283-2delinsCCTGGGCTCTCCT)
c.4462-2delinsCCTGGGCTCTCCT (n.4462-2delinsCCTGGGCTCTCCT)
c.5683-2delinsCCTGGGCTCTCCT (n.5683-2delinsCCTGGGCTCTCCT)
c.5062-2delinsCCTGGGCTCTCCT (n.5062-2delinsCCTGGGCTCTCCT)
c.5782-2delinsCCTGGGCTCTCCT (n.5782-2delinsCCTGGGCTCTCCT)
c.6280-2delinsCCTGGGCTCTCCT (n.6280-2delinsCCTGGGCTCTCCT)
c.3877-2delinsCCTGGGCTCTCCT (n.3877-2delinsCCTGGGCTCTCCT)
2g.237359391A>GCA2577289764COL6A3c.5665-3T>C (n.5665-3T>C)
c.6283-3T>C (n.6283-3T>C)
c.4462-3T>C (n.4462-3T>C)
c.5683-3T>C (n.5683-3T>C)
c.5062-3T>C (n.5062-3T>C)
c.5782-3T>C (n.5782-3T>C)
c.6280-3T>C (n.6280-3T>C)
c.3877-3T>C (n.3877-3T>C)
2g.237359394A>GCA2663798220COL6A3c.5665-6T>C (n.5665-6T>C)
c.6283-6T>C (n.6283-6T>C)
c.4462-6T>C (n.4462-6T>C)
c.5683-6T>C (n.5683-6T>C)
c.5062-6T>C (n.5062-6T>C)
c.5782-6T>C (n.5782-6T>C)
c.6280-6T>C (n.6280-6T>C)
c.3877-6T>C (n.3877-6T>C)
 gnomAD v4
2g.237359395G>ACA2188359COL6A3c.5665-7C>T (n.5665-7C>T)
c.6283-7C>T (n.6283-7C>T)
c.4462-7C>T (n.4462-7C>T)
c.5683-7C>T (n.5683-7C>T)
c.5062-7C>T (n.5062-7C>T)
c.5782-7C>T (n.5782-7C>T)
c.6280-7C>T (n.6280-7C>T)
c.3877-7C>T (n.3877-7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237359395G=CA1337617505COL6A3c.5665-7C= (n.5665-7C=)
c.6283-7C= (n.6283-7C=)
c.4462-7C= (n.4462-7C=)
c.5683-7C= (n.5683-7C=)
c.5062-7C= (n.5062-7C=)
c.5782-7C= (n.5782-7C=)
c.6280-7C= (n.6280-7C=)
c.3877-7C= (n.3877-7C=)
2g.237359396G=CA1337617506COL6A3c.5665-8C= (n.5665-8C=)
c.6283-8C= (n.6283-8C=)
c.4462-8C= (n.4462-8C=)
c.5683-8C= (n.5683-8C=)
c.5062-8C= (n.5062-8C=)
c.5782-8C= (n.5782-8C=)
c.6280-8C= (n.6280-8C=)
c.3877-8C= (n.3877-8C=)
2g.237359396G>TCA2188360COL6A3c.5665-8C>A (n.5665-8C>A)
c.6283-8C>A (n.6283-8C>A)
c.4462-8C>A (n.4462-8C>A)
c.5683-8C>A (n.5683-8C>A)
c.5062-8C>A (n.5062-8C>A)
c.5782-8C>A (n.5782-8C>A)
c.6280-8C>A (n.6280-8C>A)
c.3877-8C>A (n.3877-8C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237359397C=CA1337617507COL6A3c.5665-9G= (n.5665-9G=)
c.6283-9G= (n.6283-9G=)
c.4462-9G= (n.4462-9G=)
c.5683-9G= (n.5683-9G=)
c.5062-9G= (n.5062-9G=)
c.5782-9G= (n.5782-9G=)
c.6280-9G= (n.6280-9G=)
c.3877-9G= (n.3877-9G=)
2g.237359397C>TCA2188361COL6A3c.5665-9G>A (n.5665-9G>A)
c.6283-9G>A (n.6283-9G>A)
c.4462-9G>A (n.4462-9G>A)
c.5683-9G>A (n.5683-9G>A)
c.5062-9G>A (n.5062-9G>A)
c.5782-9G>A (n.5782-9G>A)
c.6280-9G>A (n.6280-9G>A)
c.3877-9G>A (n.3877-9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237359400G>ACA67853354COL6A3c.5665-12C>T (n.5665-12C>T)
c.6283-12C>T (n.6283-12C>T)
c.4462-12C>T (n.4462-12C>T)
c.5683-12C>T (n.5683-12C>T)
c.5062-12C>T (n.5062-12C>T)
c.5782-12C>T (n.5782-12C>T)
c.6280-12C>T (n.6280-12C>T)
c.3877-12C>T (n.3877-12C>T)
 dbSNP
2g.237359400G>CCA1337617509COL6A3c.5665-12C>G (n.5665-12C>G)
c.6283-12C>G (n.6283-12C>G)
c.4462-12C>G (n.4462-12C>G)
c.5683-12C>G (n.5683-12C>G)
c.5062-12C>G (n.5062-12C>G)
c.5782-12C>G (n.5782-12C>G)
c.6280-12C>G (n.6280-12C>G)
c.3877-12C>G (n.3877-12C>G)
 dbSNP
2g.237359400G=CA1337617508COL6A3c.5665-12C= (n.5665-12C=)
c.6283-12C= (n.6283-12C=)
c.4462-12C= (n.4462-12C=)
c.5683-12C= (n.5683-12C=)
c.5062-12C= (n.5062-12C=)
c.5782-12C= (n.5782-12C=)
c.6280-12C= (n.6280-12C=)
c.3877-12C= (n.3877-12C=)
2g.237359400_237359402delinsGGCCA1337617510COL6A3c.5665-14_5665-12delinsGCC (n.5665-14_5665-12delinsGCC)
c.6283-14_6283-12delinsGCC (n.6283-14_6283-12delinsGCC)
c.4462-14_4462-12delinsGCC (n.4462-14_4462-12delinsGCC)
c.5683-14_5683-12delinsGCC (n.5683-14_5683-12delinsGCC)
c.5062-14_5062-12delinsGCC (n.5062-14_5062-12delinsGCC)
c.5782-14_5782-12delinsGCC (n.5782-14_5782-12delinsGCC)
c.6280-14_6280-12delinsGCC (n.6280-14_6280-12delinsGCC)
c.3877-14_3877-12delinsGCC (n.3877-14_3877-12delinsGCC)
2g.237359401G>ACA1337617512COL6A3c.5665-13C>T (n.5665-13C>T)
c.6283-13C>T (n.6283-13C>T)
c.4462-13C>T (n.4462-13C>T)
c.5683-13C>T (n.5683-13C>T)
c.5062-13C>T (n.5062-13C>T)
c.5782-13C>T (n.5782-13C>T)
c.6280-13C>T (n.6280-13C>T)
c.3877-13C>T (n.3877-13C>T)
 dbSNP
2g.237359401G=CA1337617511COL6A3c.5665-13C= (n.5665-13C=)
c.6283-13C= (n.6283-13C=)
c.4462-13C= (n.4462-13C=)
c.5683-13C= (n.5683-13C=)
c.5062-13C= (n.5062-13C=)
c.5782-13C= (n.5782-13C=)
c.6280-13C= (n.6280-13C=)
c.3877-13C= (n.3877-13C=)
2g.237359402_237359403delCA540463759COL6A3c.5665-14_5665-13del (n.5665-14_5665-13del)
c.6283-14_6283-13del (n.6283-14_6283-13del)
c.4462-14_4462-13del (n.4462-14_4462-13del)
c.5683-14_5683-13del (n.5683-14_5683-13del)
c.5062-14_5062-13del (n.5062-14_5062-13del)
c.5782-14_5782-13del (n.5782-14_5782-13del)
c.6280-14_6280-13del (n.6280-14_6280-13del)
c.3877-14_3877-13del (n.3877-14_3877-13del)
 dbSNP gnomAD v2 gnomAD v4
2g.237359402C>ACA540463761COL6A3c.5665-14G>T (n.5665-14G>T)
c.6283-14G>T (n.6283-14G>T)
c.4462-14G>T (n.4462-14G>T)
c.5683-14G>T (n.5683-14G>T)
c.5062-14G>T (n.5062-14G>T)
c.5782-14G>T (n.5782-14G>T)
c.6280-14G>T (n.6280-14G>T)
c.3877-14G>T (n.3877-14G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237359402C=CA1337617513COL6A3c.5665-14G= (n.5665-14G=)
c.6283-14G= (n.6283-14G=)
c.4462-14G= (n.4462-14G=)
c.5683-14G= (n.5683-14G=)
c.5062-14G= (n.5062-14G=)
c.5782-14G= (n.5782-14G=)
c.6280-14G= (n.6280-14G=)
c.3877-14G= (n.3877-14G=)
2g.237359402C>GCA2663798222COL6A3c.5665-14G>C (n.5665-14G>C)
c.6283-14G>C (n.6283-14G>C)
c.4462-14G>C (n.4462-14G>C)
c.5683-14G>C (n.5683-14G>C)
c.5062-14G>C (n.5062-14G>C)
c.5782-14G>C (n.5782-14G>C)
c.6280-14G>C (n.6280-14G>C)
c.3877-14G>C (n.3877-14G>C)
 dbSNP gnomAD v4
2g.237359402C>TCA2188362COL6A3c.5665-14G>A (n.5665-14G>A)
c.6283-14G>A (n.6283-14G>A)
c.4462-14G>A (n.4462-14G>A)
c.5683-14G>A (n.5683-14G>A)
c.5062-14G>A (n.5062-14G>A)
c.5782-14G>A (n.5782-14G>A)
c.6280-14G>A (n.6280-14G>A)
c.3877-14G>A (n.3877-14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237359403G>ACA2188363COL6A3c.5665-15C>T (n.5665-15C>T)
c.6283-15C>T (n.6283-15C>T)
c.4462-15C>T (n.4462-15C>T)
c.5683-15C>T (n.5683-15C>T)
c.5062-15C>T (n.5062-15C>T)
c.5782-15C>T (n.5782-15C>T)
c.6280-15C>T (n.6280-15C>T)
c.3877-15C>T (n.3877-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237359403G>CCA2577289765COL6A3c.5665-15C>G (n.5665-15C>G)
c.6283-15C>G (n.6283-15C>G)
c.4462-15C>G (n.4462-15C>G)
c.5683-15C>G (n.5683-15C>G)
c.5062-15C>G (n.5062-15C>G)
c.5782-15C>G (n.5782-15C>G)
c.6280-15C>G (n.6280-15C>G)
c.3877-15C>G (n.3877-15C>G)
2g.237359403G=CA1337617514COL6A3c.5665-15C= (n.5665-15C=)
c.6283-15C= (n.6283-15C=)
c.4462-15C= (n.4462-15C=)
c.5683-15C= (n.5683-15C=)
c.5062-15C= (n.5062-15C=)
c.5782-15C= (n.5782-15C=)
c.6280-15C= (n.6280-15C=)
c.3877-15C= (n.3877-15C=)
2g.237359403G>TCA2580066084COL6A3c.5665-15C>A (n.5665-15C>A)
c.6283-15C>A (n.6283-15C>A)
c.4462-15C>A (n.4462-15C>A)
c.5683-15C>A (n.5683-15C>A)
c.5062-15C>A (n.5062-15C>A)
c.5782-15C>A (n.5782-15C>A)
c.6280-15C>A (n.6280-15C>A)
c.3877-15C>A (n.3877-15C>A)
 ClinVar
2g.237359405T>ACA2663798224COL6A3c.5665-17A>T (n.5665-17A>T)
c.6283-17A>T (n.6283-17A>T)
c.4462-17A>T (n.4462-17A>T)
c.5683-17A>T (n.5683-17A>T)
c.5062-17A>T (n.5062-17A>T)
c.5782-17A>T (n.5782-17A>T)
c.6280-17A>T (n.6280-17A>T)
c.3877-17A>T (n.3877-17A>T)
 gnomAD v4
2g.237359405T>CCA2188364COL6A3c.5665-17A>G (n.5665-17A>G)
c.6283-17A>G (n.6283-17A>G)
c.4462-17A>G (n.4462-17A>G)
c.5683-17A>G (n.5683-17A>G)
c.5062-17A>G (n.5062-17A>G)
c.5782-17A>G (n.5782-17A>G)
c.6280-17A>G (n.6280-17A>G)
c.3877-17A>G (n.3877-17A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237359405T=CA1337617516COL6A3c.5665-17A= (n.5665-17A=)
c.6283-17A= (n.6283-17A=)
c.4462-17A= (n.4462-17A=)
c.5683-17A= (n.5683-17A=)
c.5062-17A= (n.5062-17A=)
c.5782-17A= (n.5782-17A=)
c.6280-17A= (n.6280-17A=)
c.3877-17A= (n.3877-17A=)
2g.237359405_237359406delinsTACA1337617515COL6A3c.5665-18_5665-17delinsTA (n.5665-18_5665-17delinsTA)
c.6283-18_6283-17delinsTA (n.6283-18_6283-17delinsTA)
c.4462-18_4462-17delinsTA (n.4462-18_4462-17delinsTA)
c.5683-18_5683-17delinsTA (n.5683-18_5683-17delinsTA)
c.5062-18_5062-17delinsTA (n.5062-18_5062-17delinsTA)
c.5782-18_5782-17delinsTA (n.5782-18_5782-17delinsTA)
c.6280-18_6280-17delinsTA (n.6280-18_6280-17delinsTA)
c.3877-18_3877-17delinsTA (n.3877-18_3877-17delinsTA)
2g.237359406delCA2188365COL6A3c.5665-18del (n.5665-18del)
c.6283-18del (n.6283-18del)
c.4462-18del (n.4462-18del)
c.5683-18del (n.5683-18del)
c.5062-18del (n.5062-18del)
c.5782-18del (n.5782-18del)
c.6280-18del (n.6280-18del)
c.3877-18del (n.3877-18del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237359406A>TCA2663798225COL6A3c.5665-18T>A (n.5665-18T>A)
c.6283-18T>A (n.6283-18T>A)
c.4462-18T>A (n.4462-18T>A)
c.5683-18T>A (n.5683-18T>A)
c.5062-18T>A (n.5062-18T>A)
c.5782-18T>A (n.5782-18T>A)
c.6280-18T>A (n.6280-18T>A)
c.3877-18T>A (n.3877-18T>A)
 gnomAD v4
2g.237359407G>CCA766638987COL6A3c.5665-19C>G (n.5665-19C>G)
c.6283-19C>G (n.6283-19C>G)
c.4462-19C>G (n.4462-19C>G)
c.5683-19C>G (n.5683-19C>G)
c.5062-19C>G (n.5062-19C>G)
c.5782-19C>G (n.5782-19C>G)
c.6280-19C>G (n.6280-19C>G)
c.3877-19C>G (n.3877-19C>G)
 dbSNP
2g.237359407G=CA1337617517COL6A3c.5665-19C= (n.5665-19C=)
c.6283-19C= (n.6283-19C=)
c.4462-19C= (n.4462-19C=)
c.5683-19C= (n.5683-19C=)
c.5062-19C= (n.5062-19C=)
c.5782-19C= (n.5782-19C=)
c.6280-19C= (n.6280-19C=)
c.3877-19C= (n.3877-19C=)
2g.237359408G>ACA2188367COL6A3c.5665-20C>T (n.5665-20C>T)
c.6283-20C>T (n.6283-20C>T)
c.4462-20C>T (n.4462-20C>T)
c.5683-20C>T (n.5683-20C>T)
c.5062-20C>T (n.5062-20C>T)
c.5782-20C>T (n.5782-20C>T)
c.6280-20C>T (n.6280-20C>T)
c.3877-20C>T (n.3877-20C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237359408G>CCA2188366COL6A3c.5665-20C>G (n.5665-20C>G)
c.6283-20C>G (n.6283-20C>G)
c.4462-20C>G (n.4462-20C>G)
c.5683-20C>G (n.5683-20C>G)
c.5062-20C>G (n.5062-20C>G)
c.5782-20C>G (n.5782-20C>G)
c.6280-20C>G (n.6280-20C>G)
c.3877-20C>G (n.3877-20C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237359408G=CA1337617518COL6A3c.5665-20C= (n.5665-20C=)
c.6283-20C= (n.6283-20C=)
c.4462-20C= (n.4462-20C=)
c.5683-20C= (n.5683-20C=)
c.5062-20C= (n.5062-20C=)
c.5782-20C= (n.5782-20C=)
c.6280-20C= (n.6280-20C=)
c.3877-20C= (n.3877-20C=)
2g.237359409G>ACA2663798226COL6A3c.5665-21C>T (n.5665-21C>T)
c.6283-21C>T (n.6283-21C>T)
c.4462-21C>T (n.4462-21C>T)
c.5683-21C>T (n.5683-21C>T)
c.5062-21C>T (n.5062-21C>T)
c.5782-21C>T (n.5782-21C>T)
c.6280-21C>T (n.6280-21C>T)
c.3877-21C>T (n.3877-21C>T)
 gnomAD v4
2g.237359412A>CCA2754787264COL6A3c.5665-24T>G (n.5665-24T>G)
c.6283-24T>G (n.6283-24T>G)
c.4462-24T>G (n.4462-24T>G)
c.5683-24T>G (n.5683-24T>G)
c.5062-24T>G (n.5062-24T>G)
c.5782-24T>G (n.5782-24T>G)
c.6280-24T>G (n.6280-24T>G)
c.3877-24T>G (n.3877-24T>G)

Number of alleles fetched