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.237359378C>ACA275050COL6A3c.5675G>T (p.Gly1892Val)
c.6293G>T (p.Gly2098Val)
c.4472G>T (p.Gly1491Val)
c.5693G>T (p.Gly1898Val)
c.5072G>T (p.Gly1691Val)
c.5792G>T (p.Gly1931Val)
c.6290G>T (p.Gly2097Val)
c.3887G>T (p.Gly1296Val)
 ClinVar dbSNP
2g.237359378C=CA1337617499COL6A3c.5675G= (p.Gly1892=)
c.6293G= (p.Gly2098=)
c.4472G= (p.Gly1491=)
c.5693G= (p.Gly1898=)
c.5072G= (p.Gly1691=)
c.5792G= (p.Gly1931=)
c.6290G= (p.Gly2097=)
c.3887G= (p.Gly1296=)
2g.237359378C>GCA351216299COL6A3c.5675G>C (p.Gly1892Ala)
c.6293G>C (p.Gly2098Ala)
c.4472G>C (p.Gly1491Ala)
c.5693G>C (p.Gly1898Ala)
c.5072G>C (p.Gly1691Ala)
c.5792G>C (p.Gly1931Ala)
c.6290G>C (p.Gly2097Ala)
c.3887G>C (p.Gly1296Ala)
2g.237359378C>TCA351216297COL6A3c.5675G>A (p.Gly1892Glu)
c.6293G>A (p.Gly2098Glu)
c.4472G>A (p.Gly1491Glu)
c.5693G>A (p.Gly1898Glu)
c.5072G>A (p.Gly1691Glu)
c.5792G>A (p.Gly1931Glu)
c.6290G>A (p.Gly2097Glu)
c.3887G>A (p.Gly1296Glu)
 ClinVar gnomAD v4
2g.237359379C>ACA351216302COL6A3c.5674G>T (p.Gly1892Ter)
c.6292G>T (p.Gly2098Ter)
c.4471G>T (p.Gly1491Ter)
c.5692G>T (p.Gly1898Ter)
c.5071G>T (p.Gly1691Ter)
c.5791G>T (p.Gly1931Ter)
c.6289G>T (p.Gly2097Ter)
c.3886G>T (p.Gly1296Ter)
2g.237359379C>GCA351216304COL6A3c.5674G>C (p.Gly1892Arg)
c.6292G>C (p.Gly2098Arg)
c.4471G>C (p.Gly1491Arg)
c.5692G>C (p.Gly1898Arg)
c.5071G>C (p.Gly1691Arg)
c.5791G>C (p.Gly1931Arg)
c.6289G>C (p.Gly2097Arg)
c.3886G>C (p.Gly1296Arg)
2g.237359379C>TCA351216306COL6A3c.5674G>A (p.Gly1892Arg)
c.6292G>A (p.Gly2098Arg)
c.4471G>A (p.Gly1491Arg)
c.5692G>A (p.Gly1898Arg)
c.5071G>A (p.Gly1691Arg)
c.5791G>A (p.Gly1931Arg)
c.6289G>A (p.Gly2097Arg)
c.3886G>A (p.Gly1296Arg)
2g.237359380C>ACA2188354COL6A3c.5673G>T (p.Arg1891=)
c.6291G>T (p.Arg2097=)
c.4470G>T (p.Arg1490=)
c.5691G>T (p.Arg1897=)
c.5070G>T (p.Arg1690=)
c.5790G>T (p.Arg1930=)
c.6288G>T (p.Arg2096=)
c.3885G>T (p.Arg1295=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237359380C=CA1337617500COL6A3c.5673G= (p.Arg1891=)
c.6291G= (p.Arg2097=)
c.4470G= (p.Arg1490=)
c.5691G= (p.Arg1897=)
c.5070G= (p.Arg1690=)
c.5790G= (p.Arg1930=)
c.6288G= (p.Arg2096=)
c.3885G= (p.Arg1295=)
2g.237359380C>GCA431678360COL6A3c.5673G>C (p.Arg1891=)
c.6291G>C (p.Arg2097=)
c.4470G>C (p.Arg1490=)
c.5691G>C (p.Arg1897=)
c.5070G>C (p.Arg1690=)
c.5790G>C (p.Arg1930=)
c.6288G>C (p.Arg2096=)
c.3885G>C (p.Arg1295=)
 gnomAD v4
2g.237359380C>TCA431678361COL6A3c.5673G>A (p.Arg1891=)
c.6291G>A (p.Arg2097=)
c.4470G>A (p.Arg1490=)
c.5691G>A (p.Arg1897=)
c.5070G>A (p.Arg1690=)
c.5790G>A (p.Arg1930=)
c.6288G>A (p.Arg2096=)
c.3885G>A (p.Arg1295=)
2g.237359381C>ACA351216310COL6A3c.5672G>T (p.Arg1891Leu)
c.6290G>T (p.Arg2097Leu)
c.4469G>T (p.Arg1490Leu)
c.5690G>T (p.Arg1897Leu)
c.5069G>T (p.Arg1690Leu)
c.5789G>T (p.Arg1930Leu)
c.6287G>T (p.Arg2096Leu)
c.3884G>T (p.Arg1295Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.237359381C=CA1337617501COL6A3c.5672G= (p.Arg1891=)
c.6290G= (p.Arg2097=)
c.4469G= (p.Arg1490=)
c.5690G= (p.Arg1897=)
c.5069G= (p.Arg1690=)
c.5789G= (p.Arg1930=)
c.6287G= (p.Arg2096=)
c.3884G= (p.Arg1295=)
2g.237359381C>GCA2188356COL6A3c.5672G>C (p.Arg1891Pro)
c.6290G>C (p.Arg2097Pro)
c.4469G>C (p.Arg1490Pro)
c.5690G>C (p.Arg1897Pro)
c.5069G>C (p.Arg1690Pro)
c.5789G>C (p.Arg1930Pro)
c.6287G>C (p.Arg2096Pro)
c.3884G>C (p.Arg1295Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237359381C>TCA2188355COL6A3c.5672G>A (p.Arg1891Gln)
c.6290G>A (p.Arg2097Gln)
c.4469G>A (p.Arg1490Gln)
c.5690G>A (p.Arg1897Gln)
c.5069G>A (p.Arg1690Gln)
c.5789G>A (p.Arg1930Gln)
c.6287G>A (p.Arg2096Gln)
c.3884G>A (p.Arg1295Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237359382G>ACA2188357COL6A3c.5671C>T (p.Arg1891Trp)
c.6289C>T (p.Arg2097Trp)
c.4468C>T (p.Arg1490Trp)
c.5689C>T (p.Arg1897Trp)
c.5068C>T (p.Arg1690Trp)
c.5788C>T (p.Arg1930Trp)
c.6286C>T (p.Arg2096Trp)
c.3883C>T (p.Arg1295Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237359382G>CCA351216315COL6A3c.5671C>G (p.Arg1891Gly)
c.6289C>G (p.Arg2097Gly)
c.4468C>G (p.Arg1490Gly)
c.5689C>G (p.Arg1897Gly)
c.5068C>G (p.Arg1690Gly)
c.5788C>G (p.Arg1930Gly)
c.6286C>G (p.Arg2096Gly)
c.3883C>G (p.Arg1295Gly)
 gnomAD v4
2g.237359382G=CA1337617502COL6A3c.5671C= (p.Arg1891=)
c.6289C= (p.Arg2097=)
c.4468C= (p.Arg1490=)
c.5689C= (p.Arg1897=)
c.5068C= (p.Arg1690=)
c.5788C= (p.Arg1930=)
c.6286C= (p.Arg2096=)
c.3883C= (p.Arg1295=)
2g.237359382G>TCA431678362COL6A3c.5671C>A (p.Arg1891=)
c.6289C>A (p.Arg2097=)
c.4468C>A (p.Arg1490=)
c.5689C>A (p.Arg1897=)
c.5068C>A (p.Arg1690=)
c.5788C>A (p.Arg1930=)
c.6286C>A (p.Arg2096=)
c.3883C>A (p.Arg1295=)
2g.237359383A>CCA431678363COL6A3c.5670T>G (p.Ser1890=)
c.6288T>G (p.Ser2096=)
c.4467T>G (p.Ser1489=)
c.5688T>G (p.Ser1896=)
c.5067T>G (p.Ser1689=)
c.5787T>G (p.Ser1929=)
c.6285T>G (p.Ser2095=)
c.3882T>G (p.Ser1294=)
2g.237359383A>GCA431678365COL6A3c.5670T>C (p.Ser1890=)
c.6288T>C (p.Ser2096=)
c.4467T>C (p.Ser1489=)
c.5688T>C (p.Ser1896=)
c.5067T>C (p.Ser1689=)
c.5787T>C (p.Ser1929=)
c.6285T>C (p.Ser2095=)
c.3882T>C (p.Ser1294=)
2g.237359383A>TCA431678364COL6A3c.5670T>A (p.Ser1890=)
c.6288T>A (p.Ser2096=)
c.4467T>A (p.Ser1489=)
c.5688T>A (p.Ser1896=)
c.5067T>A (p.Ser1689=)
c.5787T>A (p.Ser1929=)
c.6285T>A (p.Ser2095=)
c.3882T>A (p.Ser1294=)
2g.237359384G>ACA351216317COL6A3c.5669C>T (p.Ser1890Phe)
c.6287C>T (p.Ser2096Phe)
c.4466C>T (p.Ser1489Phe)
c.5687C>T (p.Ser1896Phe)
c.5066C>T (p.Ser1689Phe)
c.5786C>T (p.Ser1929Phe)
c.6284C>T (p.Ser2095Phe)
c.3881C>T (p.Ser1294Phe)
 ClinVar dbSNP gnomAD v4
2g.237359384G>CCA351216319COL6A3c.5669C>G (p.Ser1890Cys)
c.6287C>G (p.Ser2096Cys)
c.4466C>G (p.Ser1489Cys)
c.5687C>G (p.Ser1896Cys)
c.5066C>G (p.Ser1689Cys)
c.5786C>G (p.Ser1929Cys)
c.6284C>G (p.Ser2095Cys)
c.3881C>G (p.Ser1294Cys)
2g.237359384G=CA1337617503COL6A3c.5669C= (p.Ser1890=)
c.6287C= (p.Ser2096=)
c.4466C= (p.Ser1489=)
c.5687C= (p.Ser1896=)
c.5066C= (p.Ser1689=)
c.5786C= (p.Ser1929=)
c.6284C= (p.Ser2095=)
c.3881C= (p.Ser1294=)
2g.237359384G>TCA2188358COL6A3c.5669C>A (p.Ser1890Tyr)
c.6287C>A (p.Ser2096Tyr)
c.4466C>A (p.Ser1489Tyr)
c.5687C>A (p.Ser1896Tyr)
c.5066C>A (p.Ser1689Tyr)
c.5786C>A (p.Ser1929Tyr)
c.6284C>A (p.Ser2095Tyr)
c.3881C>A (p.Ser1294Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237359385A>CCA351216323COL6A3c.5668T>G (p.Ser1890Ala)
c.6286T>G (p.Ser2096Ala)
c.4465T>G (p.Ser1489Ala)
c.5686T>G (p.Ser1896Ala)
c.5065T>G (p.Ser1689Ala)
c.5785T>G (p.Ser1929Ala)
c.6283T>G (p.Ser2095Ala)
c.3880T>G (p.Ser1294Ala)
2g.237359385A>GCA351216325COL6A3c.5668T>C (p.Ser1890Pro)
c.6286T>C (p.Ser2096Pro)
c.4465T>C (p.Ser1489Pro)
c.5686T>C (p.Ser1896Pro)
c.5065T>C (p.Ser1689Pro)
c.5785T>C (p.Ser1929Pro)
c.6283T>C (p.Ser2095Pro)
c.3880T>C (p.Ser1294Pro)
2g.237359385A>TCA351216326COL6A3c.5668T>A (p.Ser1890Thr)
c.6286T>A (p.Ser2096Thr)
c.4465T>A (p.Ser1489Thr)
c.5686T>A (p.Ser1896Thr)
c.5065T>A (p.Ser1689Thr)
c.5785T>A (p.Ser1929Thr)
c.6283T>A (p.Ser2095Thr)
c.3880T>A (p.Ser1294Thr)
2g.237359386G>ACA431678368COL6A3c.5667C>T (p.Gly1889=)
c.6285C>T (p.Gly2095=)
c.4464C>T (p.Gly1488=)
c.5685C>T (p.Gly1895=)
c.5064C>T (p.Gly1688=)
c.5784C>T (p.Gly1928=)
c.6282C>T (p.Gly2094=)
c.3879C>T (p.Gly1293=)
 gnomAD v4
2g.237359386G>CCA431678366COL6A3c.5667C>G (p.Gly1889=)
c.6285C>G (p.Gly2095=)
c.4464C>G (p.Gly1488=)
c.5685C>G (p.Gly1895=)
c.5064C>G (p.Gly1688=)
c.5784C>G (p.Gly1928=)
c.6282C>G (p.Gly2094=)
c.3879C>G (p.Gly1293=)
2g.237359386G>TCA431678367COL6A3c.5667C>A (p.Gly1889=)
c.6285C>A (p.Gly2095=)
c.4464C>A (p.Gly1488=)
c.5685C>A (p.Gly1895=)
c.5064C>A (p.Gly1688=)
c.5784C>A (p.Gly1928=)
c.6282C>A (p.Gly2094=)
c.3879C>A (p.Gly1293=)
2g.237359387C>ACA351216328COL6A3c.5666G>T (p.Gly1889Val)
c.6284G>T (p.Gly2095Val)
c.4463G>T (p.Gly1488Val)
c.5684G>T (p.Gly1895Val)
c.5063G>T (p.Gly1688Val)
c.5783G>T (p.Gly1928Val)
c.6281G>T (p.Gly2094Val)
c.3878G>T (p.Gly1293Val)
2g.237359387C>GCA351216329COL6A3c.5666G>C (p.Gly1889Ala)
c.6284G>C (p.Gly2095Ala)
c.4463G>C (p.Gly1488Ala)
c.5684G>C (p.Gly1895Ala)
c.5063G>C (p.Gly1688Ala)
c.5783G>C (p.Gly1928Ala)
c.6281G>C (p.Gly2094Ala)
c.3878G>C (p.Gly1293Ala)
2g.237359387C>TCA351216330COL6A3c.5666G>A (p.Gly1889Asp)
c.6284G>A (p.Gly2095Asp)
c.4463G>A (p.Gly1488Asp)
c.5684G>A (p.Gly1895Asp)
c.5063G>A (p.Gly1688Asp)
c.5783G>A (p.Gly1928Asp)
c.6281G>A (p.Gly2094Asp)
c.3878G>A (p.Gly1293Asp)
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)

Number of alleles fetched