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.237360122C>ACA351216598COL6A3c.5630G>T (p.Gly1877Val)
c.6248G>T (p.Gly2083Val)
c.4427G>T (p.Gly1476Val)
c.5648G>T (p.Gly1883Val)
c.5027G>T (p.Gly1676Val)
c.5747G>T (p.Gly1916Val)
c.6245G>T (p.Gly2082Val)
c.3842G>T (p.Gly1281Val)
 ClinVar dbSNP
2g.237360122C=CA1337617819COL6A3c.5630G= (p.Gly1877=)
c.6248G= (p.Gly2083=)
c.4427G= (p.Gly1476=)
c.5648G= (p.Gly1883=)
c.5027G= (p.Gly1676=)
c.5747G= (p.Gly1916=)
c.6245G= (p.Gly2082=)
c.3842G= (p.Gly1281=)
2g.237360122C>GCA351216600COL6A3c.5630G>C (p.Gly1877Ala)
c.6248G>C (p.Gly2083Ala)
c.4427G>C (p.Gly1476Ala)
c.5648G>C (p.Gly1883Ala)
c.5027G>C (p.Gly1676Ala)
c.5747G>C (p.Gly1916Ala)
c.6245G>C (p.Gly2082Ala)
c.3842G>C (p.Gly1281Ala)
2g.237360122C>TCA351216602COL6A3c.5630G>A (p.Gly1877Asp)
c.6248G>A (p.Gly2083Asp)
c.4427G>A (p.Gly1476Asp)
c.5648G>A (p.Gly1883Asp)
c.5027G>A (p.Gly1676Asp)
c.5747G>A (p.Gly1916Asp)
c.6245G>A (p.Gly2082Asp)
c.3842G>A (p.Gly1281Asp)
 ClinVar
2g.237360123C>ACA351216604COL6A3c.5629G>T (p.Gly1877Cys)
c.6247G>T (p.Gly2083Cys)
c.4426G>T (p.Gly1476Cys)
c.5647G>T (p.Gly1883Cys)
c.5026G>T (p.Gly1676Cys)
c.5746G>T (p.Gly1916Cys)
c.6244G>T (p.Gly2082Cys)
c.3841G>T (p.Gly1281Cys)
2g.237360123C>GCA351216606COL6A3c.5629G>C (p.Gly1877Arg)
c.6247G>C (p.Gly2083Arg)
c.4426G>C (p.Gly1476Arg)
c.5647G>C (p.Gly1883Arg)
c.5026G>C (p.Gly1676Arg)
c.5746G>C (p.Gly1916Arg)
c.6244G>C (p.Gly2082Arg)
c.3841G>C (p.Gly1281Arg)
2g.237360123C>TCA351216608COL6A3c.5629G>A (p.Gly1877Ser)
c.6247G>A (p.Gly2083Ser)
c.4426G>A (p.Gly1476Ser)
c.5647G>A (p.Gly1883Ser)
c.5026G>A (p.Gly1676Ser)
c.5746G>A (p.Gly1916Ser)
c.6244G>A (p.Gly2082Ser)
c.3841G>A (p.Gly1281Ser)
2g.237360123_237360125delCA2580066086COL6A3c.5627_5629del (p.Gln1876_Gly1877delinsArg)
c.6245_6247del (p.Gln2082_Gly2083delinsArg)
c.4424_4426del (p.Gln1475_Gly1476delinsArg)
c.5645_5647del (p.Gln1882_Gly1883delinsArg)
c.5024_5026del (p.Gln1675_Gly1676delinsArg)
c.5744_5746del (p.Gln1915_Gly1916delinsArg)
c.6242_6244del (p.Gln2081_Gly2082delinsArg)
c.3839_3841del (p.Gln1280_Gly1281delinsArg)
 ClinVar
2g.237360124T>ACA351216610COL6A3c.5628A>T (p.Gln1876His)
c.6246A>T (p.Gln2082His)
c.4425A>T (p.Gln1475His)
c.5646A>T (p.Gln1882His)
c.5025A>T (p.Gln1675His)
c.5745A>T (p.Gln1915His)
c.6243A>T (p.Gln2081His)
c.3840A>T (p.Gln1280His)
2g.237360124T>CCA431678457COL6A3c.5628A>G (p.Gln1876=)
c.6246A>G (p.Gln2082=)
c.4425A>G (p.Gln1475=)
c.5646A>G (p.Gln1882=)
c.5025A>G (p.Gln1675=)
c.5745A>G (p.Gln1915=)
c.6243A>G (p.Gln2081=)
c.3840A>G (p.Gln1280=)
2g.237360124T>GCA351216612COL6A3c.5628A>C (p.Gln1876His)
c.6246A>C (p.Gln2082His)
c.4425A>C (p.Gln1475His)
c.5646A>C (p.Gln1882His)
c.5025A>C (p.Gln1675His)
c.5745A>C (p.Gln1915His)
c.6243A>C (p.Gln2081His)
c.3840A>C (p.Gln1280His)
2g.237360125T>ACA351216615COL6A3c.5627A>T (p.Gln1876Leu)
c.6245A>T (p.Gln2082Leu)
c.4424A>T (p.Gln1475Leu)
c.5645A>T (p.Gln1882Leu)
c.5024A>T (p.Gln1675Leu)
c.5744A>T (p.Gln1915Leu)
c.6242A>T (p.Gln2081Leu)
c.3839A>T (p.Gln1280Leu)
2g.237360125T>CCA351216616COL6A3c.5627A>G (p.Gln1876Arg)
c.6245A>G (p.Gln2082Arg)
c.4424A>G (p.Gln1475Arg)
c.5645A>G (p.Gln1882Arg)
c.5024A>G (p.Gln1675Arg)
c.5744A>G (p.Gln1915Arg)
c.6242A>G (p.Gln2081Arg)
c.3839A>G (p.Gln1280Arg)
 gnomAD v4
2g.237360125T>GCA351216617COL6A3c.5627A>C (p.Gln1876Pro)
c.6245A>C (p.Gln2082Pro)
c.4424A>C (p.Gln1475Pro)
c.5645A>C (p.Gln1882Pro)
c.5024A>C (p.Gln1675Pro)
c.5744A>C (p.Gln1915Pro)
c.6242A>C (p.Gln2081Pro)
c.3839A>C (p.Gln1280Pro)
 ClinVar gnomAD v4
2g.237360126G>ACA351216620COL6A3c.5626C>T (p.Gln1876Ter)
c.6244C>T (p.Gln2082Ter)
c.4423C>T (p.Gln1475Ter)
c.5644C>T (p.Gln1882Ter)
c.5023C>T (p.Gln1675Ter)
c.5743C>T (p.Gln1915Ter)
c.6241C>T (p.Gln2081Ter)
c.3838C>T (p.Gln1280Ter)
2g.237360126G>CCA351216619COL6A3c.5626C>G (p.Gln1876Glu)
c.6244C>G (p.Gln2082Glu)
c.4423C>G (p.Gln1475Glu)
c.5644C>G (p.Gln1882Glu)
c.5023C>G (p.Gln1675Glu)
c.5743C>G (p.Gln1915Glu)
c.6241C>G (p.Gln2081Glu)
c.3838C>G (p.Gln1280Glu)
2g.237360126G>TCA351216618COL6A3c.5626C>A (p.Gln1876Lys)
c.6244C>A (p.Gln2082Lys)
c.4423C>A (p.Gln1475Lys)
c.5644C>A (p.Gln1882Lys)
c.5023C>A (p.Gln1675Lys)
c.5743C>A (p.Gln1915Lys)
c.6241C>A (p.Gln2081Lys)
c.3838C>A (p.Gln1280Lys)
2g.237360127A>CCA431678458COL6A3c.5625T>G (p.Thr1875=)
c.6243T>G (p.Thr2081=)
c.4422T>G (p.Thr1474=)
c.5643T>G (p.Thr1881=)
c.5022T>G (p.Thr1674=)
c.5742T>G (p.Thr1914=)
c.6240T>G (p.Thr2080=)
c.3837T>G (p.Thr1279=)
 gnomAD v4
2g.237360127A>GCA431678460COL6A3c.5625T>C (p.Thr1875=)
c.6243T>C (p.Thr2081=)
c.4422T>C (p.Thr1474=)
c.5643T>C (p.Thr1881=)
c.5022T>C (p.Thr1674=)
c.5742T>C (p.Thr1914=)
c.6240T>C (p.Thr2080=)
c.3837T>C (p.Thr1279=)
2g.237360127A>TCA431678459COL6A3c.5625T>A (p.Thr1875=)
c.6243T>A (p.Thr2081=)
c.4422T>A (p.Thr1474=)
c.5643T>A (p.Thr1881=)
c.5022T>A (p.Thr1674=)
c.5742T>A (p.Thr1914=)
c.6240T>A (p.Thr2080=)
c.3837T>A (p.Thr1279=)
2g.237360128G>ACA351216621COL6A3c.5624C>T (p.Thr1875Ile)
c.6242C>T (p.Thr2081Ile)
c.4421C>T (p.Thr1474Ile)
c.5642C>T (p.Thr1881Ile)
c.5021C>T (p.Thr1674Ile)
c.5741C>T (p.Thr1914Ile)
c.6239C>T (p.Thr2080Ile)
c.3836C>T (p.Thr1279Ile)
2g.237360128G>CCA351216622COL6A3c.5624C>G (p.Thr1875Ser)
c.6242C>G (p.Thr2081Ser)
c.4421C>G (p.Thr1474Ser)
c.5642C>G (p.Thr1881Ser)
c.5021C>G (p.Thr1674Ser)
c.5741C>G (p.Thr1914Ser)
c.6239C>G (p.Thr2080Ser)
c.3836C>G (p.Thr1279Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237360128G=CA1337617820COL6A3c.5624C= (p.Thr1875=)
c.6242C= (p.Thr2081=)
c.4421C= (p.Thr1474=)
c.5642C= (p.Thr1881=)
c.5021C= (p.Thr1674=)
c.5741C= (p.Thr1914=)
c.6239C= (p.Thr2080=)
c.3836C= (p.Thr1279=)
2g.237360128G>TCA351216623COL6A3c.5624C>A (p.Thr1875Asn)
c.6242C>A (p.Thr2081Asn)
c.4421C>A (p.Thr1474Asn)
c.5642C>A (p.Thr1881Asn)
c.5021C>A (p.Thr1674Asn)
c.5741C>A (p.Thr1914Asn)
c.6239C>A (p.Thr2080Asn)
c.3836C>A (p.Thr1279Asn)
2g.237360129T>ACA2188392COL6A3c.5623A>T (p.Thr1875Ser)
c.6241A>T (p.Thr2081Ser)
c.4420A>T (p.Thr1474Ser)
c.5641A>T (p.Thr1881Ser)
c.5020A>T (p.Thr1674Ser)
c.5740A>T (p.Thr1914Ser)
c.6238A>T (p.Thr2080Ser)
c.3835A>T (p.Thr1279Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237360129T>CCA351216624COL6A3c.5623A>G (p.Thr1875Ala)
c.6241A>G (p.Thr2081Ala)
c.4420A>G (p.Thr1474Ala)
c.5641A>G (p.Thr1881Ala)
c.5020A>G (p.Thr1674Ala)
c.5740A>G (p.Thr1914Ala)
c.6238A>G (p.Thr2080Ala)
c.3835A>G (p.Thr1279Ala)
 gnomAD v4
2g.237360129T>GCA351216626COL6A3c.5623A>C (p.Thr1875Pro)
c.6241A>C (p.Thr2081Pro)
c.4420A>C (p.Thr1474Pro)
c.5641A>C (p.Thr1881Pro)
c.5020A>C (p.Thr1674Pro)
c.5740A>C (p.Thr1914Pro)
c.6238A>C (p.Thr2080Pro)
c.3835A>C (p.Thr1279Pro)
2g.237360129T=CA1337617821COL6A3c.5623A= (p.Thr1875=)
c.6241A= (p.Thr2081=)
c.4420A= (p.Thr1474=)
c.5641A= (p.Thr1881=)
c.5020A= (p.Thr1674=)
c.5740A= (p.Thr1914=)
c.6238A= (p.Thr2080=)
c.3835A= (p.Thr1279=)
2g.237360130G>ACA431678461COL6A3c.5622C>T (p.Gly1874=)
c.6240C>T (p.Gly2080=)
c.4419C>T (p.Gly1473=)
c.5640C>T (p.Gly1880=)
c.5019C>T (p.Gly1673=)
c.5739C>T (p.Gly1913=)
c.6237C>T (p.Gly2079=)
c.3834C>T (p.Gly1278=)
 gnomAD v4
2g.237360130G>CCA431678462COL6A3c.5622C>G (p.Gly1874=)
c.6240C>G (p.Gly2080=)
c.4419C>G (p.Gly1473=)
c.5640C>G (p.Gly1880=)
c.5019C>G (p.Gly1673=)
c.5739C>G (p.Gly1913=)
c.6237C>G (p.Gly2079=)
c.3834C>G (p.Gly1278=)
2g.237360130G>TCA431678463COL6A3c.5622C>A (p.Gly1874=)
c.6240C>A (p.Gly2080=)
c.4419C>A (p.Gly1473=)
c.5640C>A (p.Gly1880=)
c.5019C>A (p.Gly1673=)
c.5739C>A (p.Gly1913=)
c.6237C>A (p.Gly2079=)
c.3834C>A (p.Gly1278=)
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)
 ClinVar
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=)
2g.237360145C>ACA2188396COL6A3c.5607G>T (p.Pro1869=)
c.6225G>T (p.Pro2075=)
c.4404G>T (p.Pro1468=)
c.5625G>T (p.Pro1875=)
c.5004G>T (p.Pro1668=)
c.5724G>T (p.Pro1908=)
c.6222G>T (p.Pro2074=)
c.3819G>T (p.Pro1273=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237360145C=CA1337617828COL6A3c.5607G= (p.Pro1869=)
c.6225G= (p.Pro2075=)
c.4404G= (p.Pro1468=)
c.5625G= (p.Pro1875=)
c.5004G= (p.Pro1668=)
c.5724G= (p.Pro1908=)
c.6222G= (p.Pro2074=)
c.3819G= (p.Pro1273=)
2g.237360145C>GCA431678473COL6A3c.5607G>C (p.Pro1869=)
c.6225G>C (p.Pro2075=)
c.4404G>C (p.Pro1468=)
c.5625G>C (p.Pro1875=)
c.5004G>C (p.Pro1668=)
c.5724G>C (p.Pro1908=)
c.6222G>C (p.Pro2074=)
c.3819G>C (p.Pro1273=)
2g.237360145C>TCA2188395COL6A3c.5607G>A (p.Pro1869=)
c.6225G>A (p.Pro2075=)
c.4404G>A (p.Pro1468=)
c.5625G>A (p.Pro1875=)
c.5004G>A (p.Pro1668=)
c.5724G>A (p.Pro1908=)
c.6222G>A (p.Pro2074=)
c.3819G>A (p.Pro1273=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237360146_237360156delCA915941785COL6A3c.5597_5607del (p.Glu1866AlafsTer?)
c.6215_6225del (p.Glu2072AlafsTer?)
c.4394_4404del (p.Glu1465AlafsTer?)
c.5615_5625del (p.Glu1872AlafsTer?)
c.4994_5004del (p.Glu1665AlafsTer?)
c.5714_5724del (p.Glu1905AlafsTer?)
c.6212_6222del (p.Glu2071AlafsTer?)
c.3809_3819del (p.Glu1270AlafsTer?)
 ClinVar dbSNP
2g.237360146G>ACA2188397COL6A3c.5606C>T (p.Pro1869Leu)
c.6224C>T (p.Pro2075Leu)
c.4403C>T (p.Pro1468Leu)
c.5624C>T (p.Pro1875Leu)
c.5003C>T (p.Pro1668Leu)
c.5723C>T (p.Pro1908Leu)
c.6221C>T (p.Pro2074Leu)
c.3818C>T (p.Pro1273Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237360146G>CCA351216706COL6A3c.5606C>G (p.Pro1869Arg)
c.6224C>G (p.Pro2075Arg)
c.4403C>G (p.Pro1468Arg)
c.5624C>G (p.Pro1875Arg)
c.5003C>G (p.Pro1668Arg)
c.5723C>G (p.Pro1908Arg)
c.6221C>G (p.Pro2074Arg)
c.3818C>G (p.Pro1273Arg)
 COSMIC
2g.237360146G=CA1337617829COL6A3c.5606C= (p.Pro1869=)
c.6224C= (p.Pro2075=)
c.4403C= (p.Pro1468=)
c.5624C= (p.Pro1875=)
c.5003C= (p.Pro1668=)
c.5723C= (p.Pro1908=)
c.6221C= (p.Pro2074=)
c.3818C= (p.Pro1273=)
2g.237360146G>TCA351216707COL6A3c.5606C>A (p.Pro1869Gln)
c.6224C>A (p.Pro2075Gln)
c.4403C>A (p.Pro1468Gln)
c.5624C>A (p.Pro1875Gln)
c.5003C>A (p.Pro1668Gln)
c.5723C>A (p.Pro1908Gln)
c.6221C>A (p.Pro2074Gln)
c.3818C>A (p.Pro1273Gln)
 gnomAD v4
2g.237360147G>ACA351216711COL6A3c.5605C>T (p.Pro1869Ser)
c.6223C>T (p.Pro2075Ser)
c.4402C>T (p.Pro1468Ser)
c.5623C>T (p.Pro1875Ser)
c.5002C>T (p.Pro1668Ser)
c.5722C>T (p.Pro1908Ser)
c.6220C>T (p.Pro2074Ser)
c.3817C>T (p.Pro1273Ser)
2g.237360147G>CCA351216713COL6A3c.5605C>G (p.Pro1869Ala)
c.6223C>G (p.Pro2075Ala)
c.4402C>G (p.Pro1468Ala)
c.5623C>G (p.Pro1875Ala)
c.5002C>G (p.Pro1668Ala)
c.5722C>G (p.Pro1908Ala)
c.6220C>G (p.Pro2074Ala)
c.3817C>G (p.Pro1273Ala)
2g.237360147G>TCA351216708COL6A3c.5605C>A (p.Pro1869Thr)
c.6223C>A (p.Pro2075Thr)
c.4402C>A (p.Pro1468Thr)
c.5623C>A (p.Pro1875Thr)
c.5002C>A (p.Pro1668Thr)
c.5722C>A (p.Pro1908Thr)
c.6220C>A (p.Pro2074Thr)
c.3817C>A (p.Pro1273Thr)
2g.237360148A>CCA431678474COL6A3c.5604T>G (p.Gly1868=)
c.6222T>G (p.Gly2074=)
c.4401T>G (p.Gly1467=)
c.5622T>G (p.Gly1874=)
c.5001T>G (p.Gly1667=)
c.5721T>G (p.Gly1907=)
c.6219T>G (p.Gly2073=)
c.3816T>G (p.Gly1272=)
2g.237360148A>GCA431678475COL6A3c.5604T>C (p.Gly1868=)
c.6222T>C (p.Gly2074=)
c.4401T>C (p.Gly1467=)
c.5622T>C (p.Gly1874=)
c.5001T>C (p.Gly1667=)
c.5721T>C (p.Gly1907=)
c.6219T>C (p.Gly2073=)
c.3816T>C (p.Gly1272=)
 gnomAD v4
2g.237360148A>TCA431678476COL6A3c.5604T>A (p.Gly1868=)
c.6222T>A (p.Gly2074=)
c.4401T>A (p.Gly1467=)
c.5622T>A (p.Gly1874=)
c.5001T>A (p.Gly1667=)
c.5721T>A (p.Gly1907=)
c.6219T>A (p.Gly2073=)
c.3816T>A (p.Gly1272=)
2g.237360149C>ACA351216715COL6A3c.5603G>T (p.Gly1868Val)
c.6221G>T (p.Gly2074Val)
c.4400G>T (p.Gly1467Val)
c.5621G>T (p.Gly1874Val)
c.5000G>T (p.Gly1667Val)
c.5720G>T (p.Gly1907Val)
c.6218G>T (p.Gly2073Val)
c.3815G>T (p.Gly1272Val)
2g.237360149C>GCA351216716COL6A3c.5603G>C (p.Gly1868Ala)
c.6221G>C (p.Gly2074Ala)
c.4400G>C (p.Gly1467Ala)
c.5621G>C (p.Gly1874Ala)
c.5000G>C (p.Gly1667Ala)
c.5720G>C (p.Gly1907Ala)
c.6218G>C (p.Gly2073Ala)
c.3815G>C (p.Gly1272Ala)
2g.237360149C>TCA351216717COL6A3c.5603G>A (p.Gly1868Asp)
c.6221G>A (p.Gly2074Asp)
c.4400G>A (p.Gly1467Asp)
c.5621G>A (p.Gly1874Asp)
c.5000G>A (p.Gly1667Asp)
c.5720G>A (p.Gly1907Asp)
c.6218G>A (p.Gly2073Asp)
c.3815G>A (p.Gly1272Asp)
 ClinVar
2g.237360150C>ACA351216718COL6A3c.5602G>T (p.Gly1868Cys)
c.6220G>T (p.Gly2074Cys)
c.4399G>T (p.Gly1467Cys)
c.5620G>T (p.Gly1874Cys)
c.4999G>T (p.Gly1667Cys)
c.5719G>T (p.Gly1907Cys)
c.6217G>T (p.Gly2073Cys)
c.3814G>T (p.Gly1272Cys)
2g.237360150C=CA1337617830COL6A3c.5602G= (p.Gly1868=)
c.6220G= (p.Gly2074=)
c.4399G= (p.Gly1467=)
c.5620G= (p.Gly1874=)
c.4999G= (p.Gly1667=)
c.5719G= (p.Gly1907=)
c.6217G= (p.Gly2073=)
c.3814G= (p.Gly1272=)
2g.237360150C>GCA351216720COL6A3c.5602G>C (p.Gly1868Arg)
c.6220G>C (p.Gly2074Arg)
c.4399G>C (p.Gly1467Arg)
c.5620G>C (p.Gly1874Arg)
c.4999G>C (p.Gly1667Arg)
c.5719G>C (p.Gly1907Arg)
c.6217G>C (p.Gly2073Arg)
c.3814G>C (p.Gly1272Arg)
2g.237360150C>TCA10606535COL6A3c.5602G>A (p.Gly1868Ser)
c.6220G>A (p.Gly2074Ser)
c.4399G>A (p.Gly1467Ser)
c.5620G>A (p.Gly1874Ser)
c.4999G>A (p.Gly1667Ser)
c.5719G>A (p.Gly1907Ser)
c.6217G>A (p.Gly2073Ser)
c.3814G>A (p.Gly1272Ser)
 ClinVar dbSNP
2g.237360151A>CCA431678477COL6A3c.5601T>G (p.Arg1867=)
c.6219T>G (p.Arg2073=)
c.4398T>G (p.Arg1466=)
c.5619T>G (p.Arg1873=)
c.4998T>G (p.Arg1666=)
c.5718T>G (p.Arg1906=)
c.6216T>G (p.Arg2072=)
c.3813T>G (p.Arg1271=)
2g.237360151A>GCA431678478COL6A3c.5601T>C (p.Arg1867=)
c.6219T>C (p.Arg2073=)
c.4398T>C (p.Arg1466=)
c.5619T>C (p.Arg1873=)
c.4998T>C (p.Arg1666=)
c.5718T>C (p.Arg1906=)
c.6216T>C (p.Arg2072=)
c.3813T>C (p.Arg1271=)
2g.237360151A>TCA431678479COL6A3c.5601T>A (p.Arg1867=)
c.6219T>A (p.Arg2073=)
c.4398T>A (p.Arg1466=)
c.5619T>A (p.Arg1873=)
c.4998T>A (p.Arg1666=)
c.5718T>A (p.Arg1906=)
c.6216T>A (p.Arg2072=)
c.3813T>A (p.Arg1271=)
2g.237360152C>ACA351216726COL6A3c.5600G>T (p.Arg1867Leu)
c.6218G>T (p.Arg2073Leu)
c.4397G>T (p.Arg1466Leu)
c.5618G>T (p.Arg1873Leu)
c.4997G>T (p.Arg1666Leu)
c.5717G>T (p.Arg1906Leu)
c.6215G>T (p.Arg2072Leu)
c.3812G>T (p.Arg1271Leu)
2g.237360152C=CA1337617831COL6A3c.5600G= (p.Arg1867=)
c.6218G= (p.Arg2073=)
c.4397G= (p.Arg1466=)
c.5618G= (p.Arg1873=)
c.4997G= (p.Arg1666=)
c.5717G= (p.Arg1906=)
c.6215G= (p.Arg2072=)
c.3812G= (p.Arg1271=)
2g.237360152C>GCA351216734COL6A3c.5600G>C (p.Arg1867Pro)
c.6218G>C (p.Arg2073Pro)
c.4397G>C (p.Arg1466Pro)
c.5618G>C (p.Arg1873Pro)
c.4997G>C (p.Arg1666Pro)
c.5717G>C (p.Arg1906Pro)
c.6215G>C (p.Arg2072Pro)
c.3812G>C (p.Arg1271Pro)
2g.237360152C>TCA2188398COL6A3c.5600G>A (p.Arg1867His)
c.6218G>A (p.Arg2073His)
c.4397G>A (p.Arg1466His)
c.5618G>A (p.Arg1873His)
c.4997G>A (p.Arg1666His)
c.5717G>A (p.Arg1906His)
c.6215G>A (p.Arg2072His)
c.3812G>A (p.Arg1271His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237360153G>ACA351216740COL6A3c.5599C>T (p.Arg1867Cys)
c.6217C>T (p.Arg2073Cys)
c.4396C>T (p.Arg1466Cys)
c.5617C>T (p.Arg1873Cys)
c.4996C>T (p.Arg1666Cys)
c.5716C>T (p.Arg1906Cys)
c.6214C>T (p.Arg2072Cys)
c.3811C>T (p.Arg1271Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237360153G>CCA351216746COL6A3c.5599C>G (p.Arg1867Gly)
c.6217C>G (p.Arg2073Gly)
c.4396C>G (p.Arg1466Gly)
c.5617C>G (p.Arg1873Gly)
c.4996C>G (p.Arg1666Gly)
c.5716C>G (p.Arg1906Gly)
c.6214C>G (p.Arg2072Gly)
c.3811C>G (p.Arg1271Gly)
2g.237360153G=CA1337617832COL6A3c.5599C= (p.Arg1867=)
c.6217C= (p.Arg2073=)
c.4396C= (p.Arg1466=)
c.5617C= (p.Arg1873=)
c.4996C= (p.Arg1666=)
c.5716C= (p.Arg1906=)
c.6214C= (p.Arg2072=)
c.3811C= (p.Arg1271=)
2g.237360153G>TCA351216747COL6A3c.5599C>A (p.Arg1867Ser)
c.6217C>A (p.Arg2073Ser)
c.4396C>A (p.Arg1466Ser)
c.5617C>A (p.Arg1873Ser)
c.4996C>A (p.Arg1666Ser)
c.5716C>A (p.Arg1906Ser)
c.6214C>A (p.Arg2072Ser)
c.3811C>A (p.Arg1271Ser)
2g.237360154C>ACA351216753COL6A3c.5598G>T (p.Glu1866Asp)
c.6216G>T (p.Glu2072Asp)
c.4395G>T (p.Glu1465Asp)
c.5616G>T (p.Glu1872Asp)
c.4995G>T (p.Glu1665Asp)
c.5715G>T (p.Glu1905Asp)
c.6213G>T (p.Glu2071Asp)
c.3810G>T (p.Glu1270Asp)
 dbSNP gnomAD v4
2g.237360154C=CA1337617833COL6A3c.5598G= (p.Glu1866=)
c.6216G= (p.Glu2072=)
c.4395G= (p.Glu1465=)
c.5616G= (p.Glu1872=)
c.4995G= (p.Glu1665=)
c.5715G= (p.Glu1905=)
c.6213G= (p.Glu2071=)
c.3810G= (p.Glu1270=)
2g.237360154C>GCA351216751COL6A3c.5598G>C (p.Glu1866Asp)
c.6216G>C (p.Glu2072Asp)
c.4395G>C (p.Glu1465Asp)
c.5616G>C (p.Glu1872Asp)
c.4995G>C (p.Glu1665Asp)
c.5715G>C (p.Glu1905Asp)
c.6213G>C (p.Glu2071Asp)
c.3810G>C (p.Glu1270Asp)
2g.237360154C>TCA431678480COL6A3c.5598G>A (p.Glu1866=)
c.6216G>A (p.Glu2072=)
c.4395G>A (p.Glu1465=)
c.5616G>A (p.Glu1872=)
c.4995G>A (p.Glu1665=)
c.5715G>A (p.Glu1905=)
c.6213G>A (p.Glu2071=)
c.3810G>A (p.Glu1270=)
 gnomAD v4
2g.237360155T>ACA351216754COL6A3c.5597A>T (p.Glu1866Val)
c.6215A>T (p.Glu2072Val)
c.4394A>T (p.Glu1465Val)
c.5615A>T (p.Glu1872Val)
c.4994A>T (p.Glu1665Val)
c.5714A>T (p.Glu1905Val)
c.6212A>T (p.Glu2071Val)
c.3809A>T (p.Glu1270Val)
2g.237360155T>CCA351216756COL6A3c.5597A>G (p.Glu1866Gly)
c.6215A>G (p.Glu2072Gly)
c.4394A>G (p.Glu1465Gly)
c.5615A>G (p.Glu1872Gly)
c.4994A>G (p.Glu1665Gly)
c.5714A>G (p.Glu1905Gly)
c.6212A>G (p.Glu2071Gly)
c.3809A>G (p.Glu1270Gly)
 gnomAD v4
2g.237360155T>GCA351216761COL6A3c.5597A>C (p.Glu1866Ala)
c.6215A>C (p.Glu2072Ala)
c.4394A>C (p.Glu1465Ala)
c.5615A>C (p.Glu1872Ala)
c.4994A>C (p.Glu1665Ala)
c.5714A>C (p.Glu1905Ala)
c.6212A>C (p.Glu2071Ala)
c.3809A>C (p.Glu1270Ala)
2g.237360156C>ACA351216766COL6A3c.5596G>T (p.Glu1866Ter)
c.6214G>T (p.Glu2072Ter)
c.4393G>T (p.Glu1465Ter)
c.5614G>T (p.Glu1872Ter)
c.4993G>T (p.Glu1665Ter)
c.5713G>T (p.Glu1905Ter)
c.6211G>T (p.Glu2071Ter)
c.3808G>T (p.Glu1270Ter)
2g.237360156C>GCA351216768COL6A3c.5596G>C (p.Glu1866Gln)
c.6214G>C (p.Glu2072Gln)
c.4393G>C (p.Glu1465Gln)
c.5614G>C (p.Glu1872Gln)
c.4993G>C (p.Glu1665Gln)
c.5713G>C (p.Glu1905Gln)
c.6211G>C (p.Glu2071Gln)
c.3808G>C (p.Glu1270Gln)
2g.237360156C>TCA351216771COL6A3c.5596G>A (p.Glu1866Lys)
c.6214G>A (p.Glu2072Lys)
c.4393G>A (p.Glu1465Lys)
c.5614G>A (p.Glu1872Lys)
c.4993G>A (p.Glu1665Lys)
c.5713G>A (p.Glu1905Lys)
c.6211G>A (p.Glu2071Lys)
c.3808G>A (p.Glu1270Lys)
 gnomAD v4
2g.237360159_237360160insGGGTCCACCCA2754787338COL6A3c.5596_5597insGACCCGGTG (p.Gly1865_Glu1866insGlyProGly)
c.6214_6215insGACCCGGTG (p.Gly2071_Glu2072insGlyProGly)
c.4393_4394insGACCCGGTG (p.Gly1464_Glu1465insGlyProGly)
c.5614_5615insGACCCGGTG (p.Gly1871_Glu1872insGlyProGly)
c.4993_4994insGACCCGGTG (p.Gly1664_Glu1665insGlyProGly)
c.5713_5714insGACCCGGTG (p.Gly1904_Glu1905insGlyProGly)
c.6211_6212insGACCCGGTG (p.Gly2070_Glu2071insGlyProGly)
c.3808_3809insGACCCGGTG (p.Gly1269_Glu1270insGlyProGly)
2g.237360157A>CCA431678481COL6A3c.5595T>G (p.Gly1865=)
c.6213T>G (p.Gly2071=)
c.4392T>G (p.Gly1464=)
c.5613T>G (p.Gly1871=)
c.4992T>G (p.Gly1664=)
c.5712T>G (p.Gly1904=)
c.6210T>G (p.Gly2070=)
c.3807T>G (p.Gly1269=)
 COSMIC
2g.237360157A>GCA431678482COL6A3c.5595T>C (p.Gly1865=)
c.6213T>C (p.Gly2071=)
c.4392T>C (p.Gly1464=)
c.5613T>C (p.Gly1871=)
c.4992T>C (p.Gly1664=)
c.5712T>C (p.Gly1904=)
c.6210T>C (p.Gly2070=)
c.3807T>C (p.Gly1269=)
 ClinVar gnomAD v4
2g.237360157A>TCA431678483COL6A3c.5595T>A (p.Gly1865=)
c.6213T>A (p.Gly2071=)
c.4392T>A (p.Gly1464=)
c.5613T>A (p.Gly1871=)
c.4992T>A (p.Gly1664=)
c.5712T>A (p.Gly1904=)
c.6210T>A (p.Gly2070=)
c.3807T>A (p.Gly1269=)
2g.237360158C>ACA351216772COL6A3c.5594G>T (p.Gly1865Val)
c.6212G>T (p.Gly2071Val)
c.4391G>T (p.Gly1464Val)
c.5612G>T (p.Gly1871Val)
c.4991G>T (p.Gly1664Val)
c.5711G>T (p.Gly1904Val)
c.6209G>T (p.Gly2070Val)
c.3806G>T (p.Gly1269Val)
2g.237360158C=CA1337617834COL6A3c.5594G= (p.Gly1865=)
c.6212G= (p.Gly2071=)
c.4391G= (p.Gly1464=)
c.5612G= (p.Gly1871=)
c.4991G= (p.Gly1664=)
c.5711G= (p.Gly1904=)
c.6209G= (p.Gly2070=)
c.3806G= (p.Gly1269=)
2g.237360158C>GCA351216773COL6A3c.5594G>C (p.Gly1865Ala)
c.6212G>C (p.Gly2071Ala)
c.4391G>C (p.Gly1464Ala)
c.5612G>C (p.Gly1871Ala)
c.4991G>C (p.Gly1664Ala)
c.5711G>C (p.Gly1904Ala)
c.6209G>C (p.Gly2070Ala)
c.3806G>C (p.Gly1269Ala)
2g.237360158C>TCA10605883COL6A3c.5594G>A (p.Gly1865Asp)
c.6212G>A (p.Gly2071Asp)
c.4391G>A (p.Gly1464Asp)
c.5612G>A (p.Gly1871Asp)
c.4991G>A (p.Gly1664Asp)
c.5711G>A (p.Gly1904Asp)
c.6209G>A (p.Gly2070Asp)
c.3806G>A (p.Gly1269Asp)
 ClinVar dbSNP
2g.237360159C>ACA351216776COL6A3c.5593G>T (p.Gly1865Cys)
c.6211G>T (p.Gly2071Cys)
c.4390G>T (p.Gly1464Cys)
c.5611G>T (p.Gly1871Cys)
c.4990G>T (p.Gly1664Cys)
c.5710G>T (p.Gly1904Cys)
c.6208G>T (p.Gly2070Cys)
c.3805G>T (p.Gly1269Cys)
 ClinVar dbSNP
2g.237360159C>GCA351216779COL6A3c.5593G>C (p.Gly1865Arg)
c.6211G>C (p.Gly2071Arg)
c.4390G>C (p.Gly1464Arg)
c.5611G>C (p.Gly1871Arg)
c.4990G>C (p.Gly1664Arg)
c.5710G>C (p.Gly1904Arg)
c.6208G>C (p.Gly2070Arg)
c.3805G>C (p.Gly1269Arg)
2g.237360159C>TCA351216784COL6A3c.5593G>A (p.Gly1865Ser)
c.6211G>A (p.Gly2071Ser)
c.4390G>A (p.Gly1464Ser)
c.5611G>A (p.Gly1871Ser)
c.4990G>A (p.Gly1664Ser)
c.5710G>A (p.Gly1904Ser)
c.6208G>A (p.Gly2070Ser)
c.3805G>A (p.Gly1269Ser)
 gnomAD v4
2g.237360160C>ACA351216795COL6A3c.5593-1G>T (n.5593-1G>T)
c.6211-1G>T (n.6211-1G>T)
c.4390-1G>T (n.4390-1G>T)
c.5611-1G>T (n.5611-1G>T)
c.4990-1G>T (n.4990-1G>T)
c.5710-1G>T (n.5710-1G>T)
c.6208-1G>T (n.6208-1G>T)
c.3805-1G>T (n.3805-1G>T)
2g.237360160C>GCA351216793COL6A3c.5593-1G>C (n.5593-1G>C)
c.6211-1G>C (n.6211-1G>C)
c.4390-1G>C (n.4390-1G>C)
c.5611-1G>C (n.5611-1G>C)
c.4990-1G>C (n.4990-1G>C)
c.5710-1G>C (n.5710-1G>C)
c.6208-1G>C (n.6208-1G>C)
c.3805-1G>C (n.3805-1G>C)
2g.237360160C>TCA351216787COL6A3c.5593-1G>A (n.5593-1G>A)
c.6211-1G>A (n.6211-1G>A)
c.4390-1G>A (n.4390-1G>A)
c.5611-1G>A (n.5611-1G>A)
c.4990-1G>A (n.4990-1G>A)
c.5710-1G>A (n.5710-1G>A)
c.6208-1G>A (n.6208-1G>A)
c.3805-1G>A (n.3805-1G>A)
2g.237360161T>ACA351216798COL6A3c.5593-2A>T (n.5593-2A>T)
c.6211-2A>T (n.6211-2A>T)
c.4390-2A>T (n.4390-2A>T)
c.5611-2A>T (n.5611-2A>T)
c.4990-2A>T (n.4990-2A>T)
c.5710-2A>T (n.5710-2A>T)
c.6208-2A>T (n.6208-2A>T)
c.3805-2A>T (n.3805-2A>T)
2g.237360161T>CCA351216802COL6A3c.5593-2A>G (n.5593-2A>G)
c.6211-2A>G (n.6211-2A>G)
c.4390-2A>G (n.4390-2A>G)
c.5611-2A>G (n.5611-2A>G)
c.4990-2A>G (n.4990-2A>G)
c.5710-2A>G (n.5710-2A>G)
c.6208-2A>G (n.6208-2A>G)
c.3805-2A>G (n.3805-2A>G)
2g.237360161T>GCA351216800COL6A3c.5593-2A>C (n.5593-2A>C)
c.6211-2A>C (n.6211-2A>C)
c.4390-2A>C (n.4390-2A>C)
c.5611-2A>C (n.5611-2A>C)
c.4990-2A>C (n.4990-2A>C)
c.5710-2A>C (n.5710-2A>C)
c.6208-2A>C (n.6208-2A>C)
c.3805-2A>C (n.3805-2A>C)
2g.237360162G>ACA147990COL6A3c.5593-3C>T (n.5593-3C>T)
c.6211-3C>T (n.6211-3C>T)
c.4390-3C>T (n.4390-3C>T)
c.5611-3C>T (n.5611-3C>T)
c.4990-3C>T (n.4990-3C>T)
c.5710-3C>T (n.5710-3C>T)
c.6208-3C>T (n.6208-3C>T)
c.3805-3C>T (n.3805-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237360162G>CCA2554071064COL6A3c.5593-3C>G (n.5593-3C>G)
c.6211-3C>G (n.6211-3C>G)
c.4390-3C>G (n.4390-3C>G)
c.5611-3C>G (n.5611-3C>G)
c.4990-3C>G (n.4990-3C>G)
c.5710-3C>G (n.5710-3C>G)
c.6208-3C>G (n.6208-3C>G)
c.3805-3C>G (n.3805-3C>G)
2g.237360162G=CA1337617835COL6A3c.5593-3C= (n.5593-3C=)
c.6211-3C= (n.6211-3C=)
c.4390-3C= (n.4390-3C=)
c.5611-3C= (n.5611-3C=)
c.4990-3C= (n.4990-3C=)
c.5710-3C= (n.5710-3C=)
c.6208-3C= (n.6208-3C=)
c.3805-3C= (n.3805-3C=)
2g.237360163T>CCA222637COL6A3c.5593-4A>G (n.5593-4A>G)
c.6211-4A>G (n.6211-4A>G)
c.4390-4A>G (n.4390-4A>G)
c.5611-4A>G (n.5611-4A>G)
c.4990-4A>G (n.4990-4A>G)
c.5710-4A>G (n.5710-4A>G)
c.6208-4A>G (n.6208-4A>G)
c.3805-4A>G (n.3805-4A>G)
 ClinVar dbSNP gnomAD v2
2g.237360163T=CA1337617836COL6A3c.5593-4A= (n.5593-4A=)
c.6211-4A= (n.6211-4A=)
c.4390-4A= (n.4390-4A=)
c.5611-4A= (n.5611-4A=)
c.4990-4A= (n.4990-4A=)
c.5710-4A= (n.5710-4A=)
c.6208-4A= (n.6208-4A=)
c.3805-4A= (n.3805-4A=)
2g.237360164T>CCA1337617838COL6A3c.5593-5A>G (n.5593-5A>G)
c.6211-5A>G (n.6211-5A>G)
c.4390-5A>G (n.4390-5A>G)
c.5611-5A>G (n.5611-5A>G)
c.4990-5A>G (n.4990-5A>G)
c.5710-5A>G (n.5710-5A>G)
c.6208-5A>G (n.6208-5A>G)
c.3805-5A>G (n.3805-5A>G)
 dbSNP gnomAD v4
2g.237360164T=CA1337617837COL6A3c.5593-5A= (n.5593-5A=)
c.6211-5A= (n.6211-5A=)
c.4390-5A= (n.4390-5A=)
c.5611-5A= (n.5611-5A=)
c.4990-5A= (n.4990-5A=)
c.5710-5A= (n.5710-5A=)
c.6208-5A= (n.6208-5A=)
c.3805-5A= (n.3805-5A=)
2g.237360165G>ACA766577639COL6A3c.5593-6C>T (n.5593-6C>T)
c.6211-6C>T (n.6211-6C>T)
c.4390-6C>T (n.4390-6C>T)
c.5611-6C>T (n.5611-6C>T)
c.4990-6C>T (n.4990-6C>T)
c.5710-6C>T (n.5710-6C>T)
c.6208-6C>T (n.6208-6C>T)
c.3805-6C>T (n.3805-6C>T)
 dbSNP
2g.237360165G=CA1337617839COL6A3c.5593-6C= (n.5593-6C=)
c.6211-6C= (n.6211-6C=)
c.4390-6C= (n.4390-6C=)
c.5611-6C= (n.5611-6C=)
c.4990-6C= (n.4990-6C=)
c.5710-6C= (n.5710-6C=)
c.6208-6C= (n.6208-6C=)
c.3805-6C= (n.3805-6C=)
2g.237360166T>CCA2577289838COL6A3c.5593-7A>G (n.5593-7A>G)
c.6211-7A>G (n.6211-7A>G)
c.4390-7A>G (n.4390-7A>G)
c.5611-7A>G (n.5611-7A>G)
c.4990-7A>G (n.4990-7A>G)
c.5710-7A>G (n.5710-7A>G)
c.6208-7A>G (n.6208-7A>G)
c.3805-7A>G (n.3805-7A>G)
2g.237360166T>GCA2663795132COL6A3c.5593-7A>C (n.5593-7A>C)
c.6211-7A>C (n.6211-7A>C)
c.4390-7A>C (n.4390-7A>C)
c.5611-7A>C (n.5611-7A>C)
c.4990-7A>C (n.4990-7A>C)
c.5710-7A>C (n.5710-7A>C)
c.6208-7A>C (n.6208-7A>C)
c.3805-7A>C (n.3805-7A>C)
 gnomAD v4
2g.237360167G>ACA2533085252COL6A3c.5593-8C>T (n.5593-8C>T)
c.6211-8C>T (n.6211-8C>T)
c.4390-8C>T (n.4390-8C>T)
c.5611-8C>T (n.5611-8C>T)
c.4990-8C>T (n.4990-8C>T)
c.5710-8C>T (n.5710-8C>T)
c.6208-8C>T (n.6208-8C>T)
c.3805-8C>T (n.3805-8C>T)
2g.237360167_237360168delinsGACA1337617840COL6A3c.5593-9_5593-8delinsTC (n.5593-9_5593-8delinsTC)
c.6211-9_6211-8delinsTC (n.6211-9_6211-8delinsTC)
c.4390-9_4390-8delinsTC (n.4390-9_4390-8delinsTC)
c.5611-9_5611-8delinsTC (n.5611-9_5611-8delinsTC)
c.4990-9_4990-8delinsTC (n.4990-9_4990-8delinsTC)
c.5710-9_5710-8delinsTC (n.5710-9_5710-8delinsTC)
c.6208-9_6208-8delinsTC (n.6208-9_6208-8delinsTC)
c.3805-9_3805-8delinsTC (n.3805-9_3805-8delinsTC)
2g.237360168delCA540464047COL6A3c.5593-9del (n.5593-9del)
c.6211-9del (n.6211-9del)
c.4390-9del (n.4390-9del)
c.5611-9del (n.5611-9del)
c.4990-9del (n.4990-9del)
c.5710-9del (n.5710-9del)
c.6208-9del (n.6208-9del)
c.3805-9del (n.3805-9del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237360170A>TCA2580066087COL6A3c.5593-11T>A (n.5593-11T>A)
c.6211-11T>A (n.6211-11T>A)
c.4390-11T>A (n.4390-11T>A)
c.5611-11T>A (n.5611-11T>A)
c.4990-11T>A (n.4990-11T>A)
c.5710-11T>A (n.5710-11T>A)
c.6208-11T>A (n.6208-11T>A)
c.3805-11T>A (n.3805-11T>A)
 ClinVar gnomAD v4
2g.237360171G>ACA1043803565COL6A3c.5593-12C>T (n.5593-12C>T)
c.6211-12C>T (n.6211-12C>T)
c.4390-12C>T (n.4390-12C>T)
c.5611-12C>T (n.5611-12C>T)
c.4990-12C>T (n.4990-12C>T)
c.5710-12C>T (n.5710-12C>T)
c.6208-12C>T (n.6208-12C>T)
c.3805-12C>T (n.3805-12C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.237360171G>CCA766577645COL6A3c.5593-12C>G (n.5593-12C>G)
c.6211-12C>G (n.6211-12C>G)
c.4390-12C>G (n.4390-12C>G)
c.5611-12C>G (n.5611-12C>G)
c.4990-12C>G (n.4990-12C>G)
c.5710-12C>G (n.5710-12C>G)
c.6208-12C>G (n.6208-12C>G)
c.3805-12C>G (n.3805-12C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.237360171G=CA1337617841COL6A3c.5593-12C= (n.5593-12C=)
c.6211-12C= (n.6211-12C=)
c.4390-12C= (n.4390-12C=)
c.5611-12C= (n.5611-12C=)
c.4990-12C= (n.4990-12C=)
c.5710-12C= (n.5710-12C=)
c.6208-12C= (n.6208-12C=)
c.3805-12C= (n.3805-12C=)
2g.237360172A=CA1337617842COL6A3c.5593-13T= (n.5593-13T=)
c.6211-13T= (n.6211-13T=)
c.4390-13T= (n.4390-13T=)
c.5611-13T= (n.5611-13T=)
c.4990-13T= (n.4990-13T=)
c.5710-13T= (n.5710-13T=)
c.6208-13T= (n.6208-13T=)
c.3805-13T= (n.3805-13T=)
2g.237360172A>GCA2188399COL6A3c.5593-13T>C (n.5593-13T>C)
c.6211-13T>C (n.6211-13T>C)
c.4390-13T>C (n.4390-13T>C)
c.5611-13T>C (n.5611-13T>C)
c.4990-13T>C (n.4990-13T>C)
c.5710-13T>C (n.5710-13T>C)
c.6208-13T>C (n.6208-13T>C)
c.3805-13T>C (n.3805-13T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237360172A>TCA2663795135COL6A3c.5593-13T>A (n.5593-13T>A)
c.6211-13T>A (n.6211-13T>A)
c.4390-13T>A (n.4390-13T>A)
c.5611-13T>A (n.5611-13T>A)
c.4990-13T>A (n.4990-13T>A)
c.5710-13T>A (n.5710-13T>A)
c.6208-13T>A (n.6208-13T>A)
c.3805-13T>A (n.3805-13T>A)
 gnomAD v4
2g.237360172_237360182delinsACAAAGGCATTCA1337617843COL6A3c.5593-23_5593-13delinsAATGCCTTTGT (n.5593-23_5593-13delinsAATGCCTTTGT)
c.6211-23_6211-13delinsAATGCCTTTGT (n.6211-23_6211-13delinsAATGCCTTTGT)
c.4390-23_4390-13delinsAATGCCTTTGT (n.4390-23_4390-13delinsAATGCCTTTGT)
c.5611-23_5611-13delinsAATGCCTTTGT (n.5611-23_5611-13delinsAATGCCTTTGT)
c.4990-23_4990-13delinsAATGCCTTTGT (n.4990-23_4990-13delinsAATGCCTTTGT)
c.5710-23_5710-13delinsAATGCCTTTGT (n.5710-23_5710-13delinsAATGCCTTTGT)
c.6208-23_6208-13delinsAATGCCTTTGT (n.6208-23_6208-13delinsAATGCCTTTGT)
c.3805-23_3805-13delinsAATGCCTTTGT (n.3805-23_3805-13delinsAATGCCTTTGT)
2g.237360173C>ACA2663795137COL6A3c.5593-14G>T (n.5593-14G>T)
c.6211-14G>T (n.6211-14G>T)
c.4390-14G>T (n.4390-14G>T)
c.5611-14G>T (n.5611-14G>T)
c.4990-14G>T (n.4990-14G>T)
c.5710-14G>T (n.5710-14G>T)
c.6208-14G>T (n.6208-14G>T)
c.3805-14G>T (n.3805-14G>T)
 gnomAD v4
2g.237360173C=CA1337617844COL6A3c.5593-14G= (n.5593-14G=)
c.6211-14G= (n.6211-14G=)
c.4390-14G= (n.4390-14G=)
c.5611-14G= (n.5611-14G=)
c.4990-14G= (n.4990-14G=)
c.5710-14G= (n.5710-14G=)
c.6208-14G= (n.6208-14G=)
c.3805-14G= (n.3805-14G=)
2g.237360173C>TCA540464053COL6A3c.5593-14G>A (n.5593-14G>A)
c.6211-14G>A (n.6211-14G>A)
c.4390-14G>A (n.4390-14G>A)
c.5611-14G>A (n.5611-14G>A)
c.4990-14G>A (n.4990-14G>A)
c.5710-14G>A (n.5710-14G>A)
c.6208-14G>A (n.6208-14G>A)
c.3805-14G>A (n.3805-14G>A)
 dbSNP gnomAD v2
2g.237360173_237360182delinsGCAAAACA10612839COL6A3c.5593-23_5593-14delinsTTTTGC (n.5593-23_5593-14delinsTTTTGC)
c.6211-23_6211-14delinsTTTTGC (n.6211-23_6211-14delinsTTTTGC)
c.4390-23_4390-14delinsTTTTGC (n.4390-23_4390-14delinsTTTTGC)
c.5611-23_5611-14delinsTTTTGC (n.5611-23_5611-14delinsTTTTGC)
c.4990-23_4990-14delinsTTTTGC (n.4990-23_4990-14delinsTTTTGC)
c.5710-23_5710-14delinsTTTTGC (n.5710-23_5710-14delinsTTTTGC)
c.6208-23_6208-14delinsTTTTGC (n.6208-23_6208-14delinsTTTTGC)
c.3805-23_3805-14delinsTTTTGC (n.3805-23_3805-14delinsTTTTGC)
 ClinVar dbSNP
2g.237360174A>GCA2754787339COL6A3c.5593-15T>C (n.5593-15T>C)
c.6211-15T>C (n.6211-15T>C)
c.4390-15T>C (n.4390-15T>C)
c.5611-15T>C (n.5611-15T>C)
c.4990-15T>C (n.4990-15T>C)
c.5710-15T>C (n.5710-15T>C)
c.6208-15T>C (n.6208-15T>C)
c.3805-15T>C (n.3805-15T>C)
2g.237360176A>CCA2663795139COL6A3c.5593-17T>G (n.5593-17T>G)
c.6211-17T>G (n.6211-17T>G)
c.4390-17T>G (n.4390-17T>G)
c.5611-17T>G (n.5611-17T>G)
c.4990-17T>G (n.4990-17T>G)
c.5710-17T>G (n.5710-17T>G)
c.6208-17T>G (n.6208-17T>G)
c.3805-17T>G (n.3805-17T>G)
 ClinVar gnomAD v4
2g.237360178G>ACA2663795141COL6A3c.5593-19C>T (n.5593-19C>T)
c.6211-19C>T (n.6211-19C>T)
c.4390-19C>T (n.4390-19C>T)
c.5611-19C>T (n.5611-19C>T)
c.4990-19C>T (n.4990-19C>T)
c.5710-19C>T (n.5710-19C>T)
c.6208-19C>T (n.6208-19C>T)
c.3805-19C>T (n.3805-19C>T)
 gnomAD v4
2g.237360180A>GCA2663795142COL6A3c.5593-21T>C (n.5593-21T>C)
c.6211-21T>C (n.6211-21T>C)
c.4390-21T>C (n.4390-21T>C)
c.5611-21T>C (n.5611-21T>C)
c.4990-21T>C (n.4990-21T>C)
c.5710-21T>C (n.5710-21T>C)
c.6208-21T>C (n.6208-21T>C)
c.3805-21T>C (n.3805-21T>C)
 gnomAD v4
2g.237360181T>CCA1337617845COL6A3c.5593-22A>G (n.5593-22A>G)
c.6211-22A>G (n.6211-22A>G)
c.4390-22A>G (n.4390-22A>G)
c.5611-22A>G (n.5611-22A>G)
c.4990-22A>G (n.4990-22A>G)
c.5710-22A>G (n.5710-22A>G)
c.6208-22A>G (n.6208-22A>G)
c.3805-22A>G (n.3805-22A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.237360181T=CA1337617846COL6A3c.5593-22A= (n.5593-22A=)
c.6211-22A= (n.6211-22A=)
c.4390-22A= (n.4390-22A=)
c.5611-22A= (n.5611-22A=)
c.4990-22A= (n.4990-22A=)
c.5710-22A= (n.5710-22A=)
c.6208-22A= (n.6208-22A=)
c.3805-22A= (n.3805-22A=)
2g.237360183T>CCA2188400COL6A3c.5593-24A>G (n.5593-24A>G)
c.6211-24A>G (n.6211-24A>G)
c.4390-24A>G (n.4390-24A>G)
c.5611-24A>G (n.5611-24A>G)
c.4990-24A>G (n.4990-24A>G)
c.5710-24A>G (n.5710-24A>G)
c.6208-24A>G (n.6208-24A>G)
c.3805-24A>G (n.3805-24A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237360183T=CA1337617847COL6A3c.5593-24A= (n.5593-24A=)
c.6211-24A= (n.6211-24A=)
c.4390-24A= (n.4390-24A=)
c.5611-24A= (n.5611-24A=)
c.4990-24A= (n.4990-24A=)
c.5710-24A= (n.5710-24A=)
c.6208-24A= (n.6208-24A=)
c.3805-24A= (n.3805-24A=)
2g.237360184T>CCA2577289839COL6A3c.5593-25A>G (n.5593-25A>G)
c.6211-25A>G (n.6211-25A>G)
c.4390-25A>G (n.4390-25A>G)
c.5611-25A>G (n.5611-25A>G)
c.4990-25A>G (n.4990-25A>G)
c.5710-25A>G (n.5710-25A>G)
c.6208-25A>G (n.6208-25A>G)
c.3805-25A>G (n.3805-25A>G)
2g.237360185G=CA1337617848COL6A3c.5593-26C= (n.5593-26C=)
c.6211-26C= (n.6211-26C=)
c.4390-26C= (n.4390-26C=)
c.5611-26C= (n.5611-26C=)
c.4990-26C= (n.4990-26C=)
c.5710-26C= (n.5710-26C=)
c.6208-26C= (n.6208-26C=)
c.3805-26C= (n.3805-26C=)
2g.237360185G>TCA540464057COL6A3c.5593-26C>A (n.5593-26C>A)
c.6211-26C>A (n.6211-26C>A)
c.4390-26C>A (n.4390-26C>A)
c.5611-26C>A (n.5611-26C>A)
c.4990-26C>A (n.4990-26C>A)
c.5710-26C>A (n.5710-26C>A)
c.6208-26C>A (n.6208-26C>A)
c.3805-26C>A (n.3805-26C>A)
 dbSNP gnomAD v2
2g.237360190C>ACA766577659COL6A3c.5593-31G>T (n.5593-31G>T)
c.6211-31G>T (n.6211-31G>T)
c.4390-31G>T (n.4390-31G>T)
c.5611-31G>T (n.5611-31G>T)
c.4990-31G>T (n.4990-31G>T)
c.5710-31G>T (n.5710-31G>T)
c.6208-31G>T (n.6208-31G>T)
c.3805-31G>T (n.3805-31G>T)
 dbSNP
2g.237360190C=CA1337617849COL6A3c.5593-31G= (n.5593-31G=)
c.6211-31G= (n.6211-31G=)
c.4390-31G= (n.4390-31G=)
c.5611-31G= (n.5611-31G=)
c.4990-31G= (n.4990-31G=)
c.5710-31G= (n.5710-31G=)
c.6208-31G= (n.6208-31G=)
c.3805-31G= (n.3805-31G=)
2g.237360191T>CCA2577289840COL6A3c.5593-32A>G (n.5593-32A>G)
c.6211-32A>G (n.6211-32A>G)
c.4390-32A>G (n.4390-32A>G)
c.5611-32A>G (n.5611-32A>G)
c.4990-32A>G (n.4990-32A>G)
c.5710-32A>G (n.5710-32A>G)
c.6208-32A>G (n.6208-32A>G)
c.3805-32A>G (n.3805-32A>G)
2g.237360194A=CA1337617850COL6A3c.5593-35T= (n.5593-35T=)
c.6211-35T= (n.6211-35T=)
c.4390-35T= (n.4390-35T=)
c.5611-35T= (n.5611-35T=)
c.4990-35T= (n.4990-35T=)
c.5710-35T= (n.5710-35T=)
c.6208-35T= (n.6208-35T=)
c.3805-35T= (n.3805-35T=)
2g.237360194A>GCA540464063COL6A3c.5593-35T>C (n.5593-35T>C)
c.6211-35T>C (n.6211-35T>C)
c.4390-35T>C (n.4390-35T>C)
c.5611-35T>C (n.5611-35T>C)
c.4990-35T>C (n.4990-35T>C)
c.5710-35T>C (n.5710-35T>C)
c.6208-35T>C (n.6208-35T>C)
c.3805-35T>C (n.3805-35T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.237360194A>TCA540464061COL6A3c.5593-35T>A (n.5593-35T>A)
c.6211-35T>A (n.6211-35T>A)
c.4390-35T>A (n.4390-35T>A)
c.5611-35T>A (n.5611-35T>A)
c.4990-35T>A (n.4990-35T>A)
c.5710-35T>A (n.5710-35T>A)
c.6208-35T>A (n.6208-35T>A)
c.3805-35T>A (n.3805-35T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.237360195G>ACA2188401COL6A3c.5593-36C>T (n.5593-36C>T)
c.6211-36C>T (n.6211-36C>T)
c.4390-36C>T (n.4390-36C>T)
c.5611-36C>T (n.5611-36C>T)
c.4990-36C>T (n.4990-36C>T)
c.5710-36C>T (n.5710-36C>T)
c.6208-36C>T (n.6208-36C>T)
c.3805-36C>T (n.3805-36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237360195G>CCA2663795147COL6A3c.5593-36C>G (n.5593-36C>G)
c.6211-36C>G (n.6211-36C>G)
c.4390-36C>G (n.4390-36C>G)
c.5611-36C>G (n.5611-36C>G)
c.4990-36C>G (n.4990-36C>G)
c.5710-36C>G (n.5710-36C>G)
c.6208-36C>G (n.6208-36C>G)
c.3805-36C>G (n.3805-36C>G)
 gnomAD v4
2g.237360195G=CA1337617851COL6A3c.5593-36C= (n.5593-36C=)
c.6211-36C= (n.6211-36C=)
c.4390-36C= (n.4390-36C=)
c.5611-36C= (n.5611-36C=)
c.4990-36C= (n.4990-36C=)
c.5710-36C= (n.5710-36C=)
c.6208-36C= (n.6208-36C=)
c.3805-36C= (n.3805-36C=)
2g.237360197C>TCA2663795150COL6A3c.5593-38G>A (n.5593-38G>A)
c.6211-38G>A (n.6211-38G>A)
c.4390-38G>A (n.4390-38G>A)
c.5611-38G>A (n.5611-38G>A)
c.4990-38G>A (n.4990-38G>A)
c.5710-38G>A (n.5710-38G>A)
c.6208-38G>A (n.6208-38G>A)
c.3805-38G>A (n.3805-38G>A)
 gnomAD v4
2g.237360198C>TCA2663795153COL6A3c.5593-39G>A (n.5593-39G>A)
c.6211-39G>A (n.6211-39G>A)
c.4390-39G>A (n.4390-39G>A)
c.5611-39G>A (n.5611-39G>A)
c.4990-39G>A (n.4990-39G>A)
c.5710-39G>A (n.5710-39G>A)
c.6208-39G>A (n.6208-39G>A)
c.3805-39G>A (n.3805-39G>A)
 gnomAD v4
2g.237360199T>CCA2577289841COL6A3c.5593-40A>G (n.5593-40A>G)
c.6211-40A>G (n.6211-40A>G)
c.4390-40A>G (n.4390-40A>G)
c.5611-40A>G (n.5611-40A>G)
c.4990-40A>G (n.4990-40A>G)
c.5710-40A>G (n.5710-40A>G)
c.6208-40A>G (n.6208-40A>G)
c.3805-40A>G (n.3805-40A>G)
 gnomAD v4
2g.237360199_237360202delinsTTCACA1337617852COL6A3c.5593-43_5593-40delinsTGAA (n.5593-43_5593-40delinsTGAA)
c.6211-43_6211-40delinsTGAA (n.6211-43_6211-40delinsTGAA)
c.4390-43_4390-40delinsTGAA (n.4390-43_4390-40delinsTGAA)
c.5611-43_5611-40delinsTGAA (n.5611-43_5611-40delinsTGAA)
c.4990-43_4990-40delinsTGAA (n.4990-43_4990-40delinsTGAA)
c.5710-43_5710-40delinsTGAA (n.5710-43_5710-40delinsTGAA)
c.6208-43_6208-40delinsTGAA (n.6208-43_6208-40delinsTGAA)
c.3805-43_3805-40delinsTGAA (n.3805-43_3805-40delinsTGAA)
2g.237360200T>ACA2663795155COL6A3c.5593-41A>T (n.5593-41A>T)
c.6211-41A>T (n.6211-41A>T)
c.4390-41A>T (n.4390-41A>T)
c.5611-41A>T (n.5611-41A>T)
c.4990-41A>T (n.4990-41A>T)
c.5710-41A>T (n.5710-41A>T)
c.6208-41A>T (n.6208-41A>T)
c.3805-41A>T (n.3805-41A>T)
 gnomAD v4
2g.237360200T>GCA2577289842COL6A3c.5593-41A>C (n.5593-41A>C)
c.6211-41A>C (n.6211-41A>C)
c.4390-41A>C (n.4390-41A>C)
c.5611-41A>C (n.5611-41A>C)
c.4990-41A>C (n.4990-41A>C)
c.5710-41A>C (n.5710-41A>C)
c.6208-41A>C (n.6208-41A>C)
c.3805-41A>C (n.3805-41A>C)
 gnomAD v4
2g.237360203_237360205delCA2188402COL6A3c.5593-43_5593-41del (n.5593-43_5593-41del)
c.6211-43_6211-41del (n.6211-43_6211-41del)
c.4390-43_4390-41del (n.4390-43_4390-41del)
c.5611-43_5611-41del (n.5611-43_5611-41del)
c.4990-43_4990-41del (n.4990-43_4990-41del)
c.5710-43_5710-41del (n.5710-43_5710-41del)
c.6208-43_6208-41del (n.6208-43_6208-41del)
c.3805-43_3805-41del (n.3805-43_3805-41del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237360202A=CA1337617853COL6A3c.5593-43T= (n.5593-43T=)
c.6211-43T= (n.6211-43T=)
c.4390-43T= (n.4390-43T=)
c.5611-43T= (n.5611-43T=)
c.4990-43T= (n.4990-43T=)
c.5710-43T= (n.5710-43T=)
c.6208-43T= (n.6208-43T=)
c.3805-43T= (n.3805-43T=)
2g.237360202A>GCA540464068COL6A3c.5593-43T>C (n.5593-43T>C)
c.6211-43T>C (n.6211-43T>C)
c.4390-43T>C (n.4390-43T>C)
c.5611-43T>C (n.5611-43T>C)
c.4990-43T>C (n.4990-43T>C)
c.5710-43T>C (n.5710-43T>C)
c.6208-43T>C (n.6208-43T>C)
c.3805-43T>C (n.3805-43T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.237360203T>ACA2663795157COL6A3c.5593-44A>T (n.5593-44A>T)
c.6211-44A>T (n.6211-44A>T)
c.4390-44A>T (n.4390-44A>T)
c.5611-44A>T (n.5611-44A>T)
c.4990-44A>T (n.4990-44A>T)
c.5710-44A>T (n.5710-44A>T)
c.6208-44A>T (n.6208-44A>T)
c.3805-44A>T (n.3805-44A>T)
 gnomAD v4
2g.237360203T>CCA2663795158COL6A3c.5593-44A>G (n.5593-44A>G)
c.6211-44A>G (n.6211-44A>G)
c.4390-44A>G (n.4390-44A>G)
c.5611-44A>G (n.5611-44A>G)
c.4990-44A>G (n.4990-44A>G)
c.5710-44A>G (n.5710-44A>G)
c.6208-44A>G (n.6208-44A>G)
c.3805-44A>G (n.3805-44A>G)
 gnomAD v4
2g.237360204C>TCA2663795159COL6A3c.5593-45G>A (n.5593-45G>A)
c.6211-45G>A (n.6211-45G>A)
c.4390-45G>A (n.4390-45G>A)
c.5611-45G>A (n.5611-45G>A)
c.4990-45G>A (n.4990-45G>A)
c.5710-45G>A (n.5710-45G>A)
c.6208-45G>A (n.6208-45G>A)
c.3805-45G>A (n.3805-45G>A)
 gnomAD v4
2g.237360207C>ACA2188403COL6A3c.5593-48G>T (n.5593-48G>T)
c.6211-48G>T (n.6211-48G>T)
c.4390-48G>T (n.4390-48G>T)
c.5611-48G>T (n.5611-48G>T)
c.4990-48G>T (n.4990-48G>T)
c.5710-48G>T (n.5710-48G>T)
c.6208-48G>T (n.6208-48G>T)
c.3805-48G>T (n.3805-48G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237360207C=CA1337617854COL6A3c.5593-48G= (n.5593-48G=)
c.6211-48G= (n.6211-48G=)
c.4390-48G= (n.4390-48G=)
c.5611-48G= (n.5611-48G=)
c.4990-48G= (n.4990-48G=)
c.5710-48G= (n.5710-48G=)
c.6208-48G= (n.6208-48G=)
c.3805-48G= (n.3805-48G=)
2g.237360207C>GCA1337617855COL6A3c.5593-48G>C (n.5593-48G>C)
c.6211-48G>C (n.6211-48G>C)
c.4390-48G>C (n.4390-48G>C)
c.5611-48G>C (n.5611-48G>C)
c.4990-48G>C (n.4990-48G>C)
c.5710-48G>C (n.5710-48G>C)
c.6208-48G>C (n.6208-48G>C)
c.3805-48G>C (n.3805-48G>C)
 dbSNP
2g.237360208C>ACA2577289843COL6A3c.5593-49G>T (n.5593-49G>T)
c.6211-49G>T (n.6211-49G>T)
c.4390-49G>T (n.4390-49G>T)
c.5611-49G>T (n.5611-49G>T)
c.4990-49G>T (n.4990-49G>T)
c.5710-49G>T (n.5710-49G>T)
c.6208-49G>T (n.6208-49G>T)
c.3805-49G>T (n.3805-49G>T)
 gnomAD v4
2g.237360209T>CCA766577670COL6A3c.5593-50A>G (n.5593-50A>G)
c.6211-50A>G (n.6211-50A>G)
c.4390-50A>G (n.4390-50A>G)
c.5611-50A>G (n.5611-50A>G)
c.4990-50A>G (n.4990-50A>G)
c.5710-50A>G (n.5710-50A>G)
c.6208-50A>G (n.6208-50A>G)
c.3805-50A>G (n.3805-50A>G)
 dbSNP gnomAD v4
2g.237360209T=CA1337617856COL6A3c.5593-50A= (n.5593-50A=)
c.6211-50A= (n.6211-50A=)
c.4390-50A= (n.4390-50A=)
c.5611-50A= (n.5611-50A=)
c.4990-50A= (n.4990-50A=)
c.5710-50A= (n.5710-50A=)
c.6208-50A= (n.6208-50A=)
c.3805-50A= (n.3805-50A=)
2g.237360211T>CCA766577671COL6A3c.5593-52A>G (n.5593-52A>G)
c.6211-52A>G (n.6211-52A>G)
c.4390-52A>G (n.4390-52A>G)
c.5611-52A>G (n.5611-52A>G)
c.4990-52A>G (n.4990-52A>G)
c.5710-52A>G (n.5710-52A>G)
c.6208-52A>G (n.6208-52A>G)
c.3805-52A>G (n.3805-52A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.237360211T=CA1337617857COL6A3c.5593-52A= (n.5593-52A=)
c.6211-52A= (n.6211-52A=)
c.4390-52A= (n.4390-52A=)
c.5611-52A= (n.5611-52A=)
c.4990-52A= (n.4990-52A=)
c.5710-52A= (n.5710-52A=)
c.6208-52A= (n.6208-52A=)
c.3805-52A= (n.3805-52A=)
2g.237360214C=CA1337617858COL6A3c.5593-55G= (n.5593-55G=)
c.6211-55G= (n.6211-55G=)
c.4390-55G= (n.4390-55G=)
c.5611-55G= (n.5611-55G=)
c.4990-55G= (n.4990-55G=)
c.5710-55G= (n.5710-55G=)
c.6208-55G= (n.6208-55G=)
c.3805-55G= (n.3805-55G=)
2g.237360214C>GCA2577289844COL6A3c.5593-55G>C (n.5593-55G>C)
c.6211-55G>C (n.6211-55G>C)
c.4390-55G>C (n.4390-55G>C)
c.5611-55G>C (n.5611-55G>C)
c.4990-55G>C (n.4990-55G>C)
c.5710-55G>C (n.5710-55G>C)
c.6208-55G>C (n.6208-55G>C)
c.3805-55G>C (n.3805-55G>C)
2g.237360214C>TCA67854288COL6A3c.5593-55G>A (n.5593-55G>A)
c.6211-55G>A (n.6211-55G>A)
c.4390-55G>A (n.4390-55G>A)
c.5611-55G>A (n.5611-55G>A)
c.4990-55G>A (n.4990-55G>A)
c.5710-55G>A (n.5710-55G>A)
c.6208-55G>A (n.6208-55G>A)
c.3805-55G>A (n.3805-55G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.237360216G>ACA1043803577COL6A3c.5593-57C>T (n.5593-57C>T)
c.6211-57C>T (n.6211-57C>T)
c.4390-57C>T (n.4390-57C>T)
c.5611-57C>T (n.5611-57C>T)
c.4990-57C>T (n.4990-57C>T)
c.5710-57C>T (n.5710-57C>T)
c.6208-57C>T (n.6208-57C>T)
c.3805-57C>T (n.3805-57C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.237360216G=CA1337617859COL6A3c.5593-57C= (n.5593-57C=)
c.6211-57C= (n.6211-57C=)
c.4390-57C= (n.4390-57C=)
c.5611-57C= (n.5611-57C=)
c.4990-57C= (n.4990-57C=)
c.5710-57C= (n.5710-57C=)
c.6208-57C= (n.6208-57C=)
c.3805-57C= (n.3805-57C=)
2g.237360216G>TCA2663795162COL6A3c.5593-57C>A (n.5593-57C>A)
c.6211-57C>A (n.6211-57C>A)
c.4390-57C>A (n.4390-57C>A)
c.5611-57C>A (n.5611-57C>A)
c.4990-57C>A (n.4990-57C>A)
c.5710-57C>A (n.5710-57C>A)
c.6208-57C>A (n.6208-57C>A)
c.3805-57C>A (n.3805-57C>A)
 gnomAD v4
2g.237360217C=CA1337617861COL6A3c.5593-58G= (n.5593-58G=)
c.6211-58G= (n.6211-58G=)
c.4390-58G= (n.4390-58G=)
c.5611-58G= (n.5611-58G=)
c.4990-58G= (n.4990-58G=)
c.5710-58G= (n.5710-58G=)
c.6208-58G= (n.6208-58G=)
c.3805-58G= (n.3805-58G=)
2g.237360217C>GCA1337617860COL6A3c.5593-58G>C (n.5593-58G>C)
c.6211-58G>C (n.6211-58G>C)
c.4390-58G>C (n.4390-58G>C)
c.5611-58G>C (n.5611-58G>C)
c.4990-58G>C (n.4990-58G>C)
c.5710-58G>C (n.5710-58G>C)
c.6208-58G>C (n.6208-58G>C)
c.3805-58G>C (n.3805-58G>C)
 dbSNP
2g.237360218C>ACA1337617863COL6A3c.5593-59G>T (n.5593-59G>T)
c.6211-59G>T (n.6211-59G>T)
c.4390-59G>T (n.4390-59G>T)
c.5611-59G>T (n.5611-59G>T)
c.4990-59G>T (n.4990-59G>T)
c.5710-59G>T (n.5710-59G>T)
c.6208-59G>T (n.6208-59G>T)
c.3805-59G>T (n.3805-59G>T)
 dbSNP gnomAD v4
2g.237360218C=CA1337617862COL6A3c.5593-59G= (n.5593-59G=)
c.6211-59G= (n.6211-59G=)
c.4390-59G= (n.4390-59G=)
c.5611-59G= (n.5611-59G=)
c.4990-59G= (n.4990-59G=)
c.5710-59G= (n.5710-59G=)
c.6208-59G= (n.6208-59G=)
c.3805-59G= (n.3805-59G=)
2g.237360218C>TCA67854310COL6A3c.5593-59G>A (n.5593-59G>A)
c.6211-59G>A (n.6211-59G>A)
c.4390-59G>A (n.4390-59G>A)
c.5611-59G>A (n.5611-59G>A)
c.4990-59G>A (n.4990-59G>A)
c.5710-59G>A (n.5710-59G>A)
c.6208-59G>A (n.6208-59G>A)
c.3805-59G>A (n.3805-59G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237360219G>ACA67854318COL6A3c.5593-60C>T (n.5593-60C>T)
c.6211-60C>T (n.6211-60C>T)
c.4390-60C>T (n.4390-60C>T)
c.5611-60C>T (n.5611-60C>T)
c.4990-60C>T (n.4990-60C>T)
c.5710-60C>T (n.5710-60C>T)
c.6208-60C>T (n.6208-60C>T)
c.3805-60C>T (n.3805-60C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.237360219G>CCA2663795163COL6A3c.5593-60C>G (n.5593-60C>G)
c.6211-60C>G (n.6211-60C>G)
c.4390-60C>G (n.4390-60C>G)
c.5611-60C>G (n.5611-60C>G)
c.4990-60C>G (n.4990-60C>G)
c.5710-60C>G (n.5710-60C>G)
c.6208-60C>G (n.6208-60C>G)
c.3805-60C>G (n.3805-60C>G)
 gnomAD v4
2g.237360219G=CA1337617864COL6A3c.5593-60C= (n.5593-60C=)
c.6211-60C= (n.6211-60C=)
c.4390-60C= (n.4390-60C=)
c.5611-60C= (n.5611-60C=)
c.4990-60C= (n.4990-60C=)
c.5710-60C= (n.5710-60C=)
c.6208-60C= (n.6208-60C=)
c.3805-60C= (n.3805-60C=)
2g.237360219G>TCA2577289846COL6A3c.5593-60C>A (n.5593-60C>A)
c.6211-60C>A (n.6211-60C>A)
c.4390-60C>A (n.4390-60C>A)
c.5611-60C>A (n.5611-60C>A)
c.4990-60C>A (n.4990-60C>A)
c.5710-60C>A (n.5710-60C>A)
c.6208-60C>A (n.6208-60C>A)
c.3805-60C>A (n.3805-60C>A)
2g.237360221delCA2577289845COL6A3c.5593-60del (n.5593-60del)
c.6211-60del (n.6211-60del)
c.4390-60del (n.4390-60del)
c.5611-60del (n.5611-60del)
c.4990-60del (n.4990-60del)
c.5710-60del (n.5710-60del)
c.6208-60del (n.6208-60del)
c.3805-60del (n.3805-60del)
2g.237360221G>ACA540464071COL6A3c.5593-62C>T (n.5593-62C>T)
c.6211-62C>T (n.6211-62C>T)
c.4390-62C>T (n.4390-62C>T)
c.5611-62C>T (n.5611-62C>T)
c.4990-62C>T (n.4990-62C>T)
c.5710-62C>T (n.5710-62C>T)
c.6208-62C>T (n.6208-62C>T)
c.3805-62C>T (n.3805-62C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237360221G=CA1337617865COL6A3c.5593-62C= (n.5593-62C=)
c.6211-62C= (n.6211-62C=)
c.4390-62C= (n.4390-62C=)
c.5611-62C= (n.5611-62C=)
c.4990-62C= (n.4990-62C=)
c.5710-62C= (n.5710-62C=)
c.6208-62C= (n.6208-62C=)
c.3805-62C= (n.3805-62C=)
2g.237360221G>TCA2663795164COL6A3c.5593-62C>A (n.5593-62C>A)
c.6211-62C>A (n.6211-62C>A)
c.4390-62C>A (n.4390-62C>A)
c.5611-62C>A (n.5611-62C>A)
c.4990-62C>A (n.4990-62C>A)
c.5710-62C>A (n.5710-62C>A)
c.6208-62C>A (n.6208-62C>A)
c.3805-62C>A (n.3805-62C>A)
 gnomAD v4
2g.237360222C>ACA2663795165COL6A3c.5593-63G>T (n.5593-63G>T)
c.6211-63G>T (n.6211-63G>T)
c.4390-63G>T (n.4390-63G>T)
c.5611-63G>T (n.5611-63G>T)
c.4990-63G>T (n.4990-63G>T)
c.5710-63G>T (n.5710-63G>T)
c.6208-63G>T (n.6208-63G>T)
c.3805-63G>T (n.3805-63G>T)
 gnomAD v4
2g.237360222C=CA1337617866COL6A3c.5593-63G= (n.5593-63G=)
c.6211-63G= (n.6211-63G=)
c.4390-63G= (n.4390-63G=)
c.5611-63G= (n.5611-63G=)
c.4990-63G= (n.4990-63G=)
c.5710-63G= (n.5710-63G=)
c.6208-63G= (n.6208-63G=)
c.3805-63G= (n.3805-63G=)
2g.237360222C>TCA67854321COL6A3c.5593-63G>A (n.5593-63G>A)
c.6211-63G>A (n.6211-63G>A)
c.4390-63G>A (n.4390-63G>A)
c.5611-63G>A (n.5611-63G>A)
c.4990-63G>A (n.4990-63G>A)
c.5710-63G>A (n.5710-63G>A)
c.6208-63G>A (n.6208-63G>A)
c.3805-63G>A (n.3805-63G>A)
 dbSNP

Number of alleles fetched