Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237361137C>ACA351217413COL6A3c.5576G>T (p.Gly1859Val)
c.6194G>T (p.Gly2065Val)
c.4373G>T (p.Gly1458Val)
c.5594G>T (p.Gly1865Val)
c.4973G>T (p.Gly1658Val)
c.5693G>T (p.Gly1898Val)
c.6191G>T (p.Gly2064Val)
c.3788G>T (p.Gly1263Val)
2g.237361137C=CA1337618622COL6A3c.5576G= (p.Gly1859=)
c.6194G= (p.Gly2065=)
c.4373G= (p.Gly1458=)
c.5594G= (p.Gly1865=)
c.4973G= (p.Gly1658=)
c.5693G= (p.Gly1898=)
c.6191G= (p.Gly2064=)
c.3788G= (p.Gly1263=)
2g.237361137C>GCA351217414COL6A3c.5576G>C (p.Gly1859Ala)
c.6194G>C (p.Gly2065Ala)
c.4373G>C (p.Gly1458Ala)
c.5594G>C (p.Gly1865Ala)
c.4973G>C (p.Gly1658Ala)
c.5693G>C (p.Gly1898Ala)
c.6191G>C (p.Gly2064Ala)
c.3788G>C (p.Gly1263Ala)
2g.237361137C>TCA295335COL6A3c.5576G>A (p.Gly1859Asp)
c.6194G>A (p.Gly2065Asp)
c.4373G>A (p.Gly1458Asp)
c.5594G>A (p.Gly1865Asp)
c.4973G>A (p.Gly1658Asp)
c.5693G>A (p.Gly1898Asp)
c.6191G>A (p.Gly2064Asp)
c.3788G>A (p.Gly1263Asp)
dbSNP COSMIC
2g.237361138C>ACA351217416COL6A3c.5575G>T (p.Gly1859Cys)
c.6193G>T (p.Gly2065Cys)
c.4372G>T (p.Gly1458Cys)
c.5593G>T (p.Gly1865Cys)
c.4972G>T (p.Gly1658Cys)
c.5692G>T (p.Gly1898Cys)
c.6190G>T (p.Gly2064Cys)
c.3787G>T (p.Gly1263Cys)
2g.237361138C=CA1337618630COL6A3c.5575G= (p.Gly1859=)
c.6193G= (p.Gly2065=)
c.4372G= (p.Gly1458=)
c.5593G= (p.Gly1865=)
c.4972G= (p.Gly1658=)
c.5692G= (p.Gly1898=)
c.6190G= (p.Gly2064=)
c.3787G= (p.Gly1263=)
2g.237361138C>GCA10604911COL6A3c.5575G>C (p.Gly1859Arg)
c.6193G>C (p.Gly2065Arg)
c.4372G>C (p.Gly1458Arg)
c.5593G>C (p.Gly1865Arg)
c.4972G>C (p.Gly1658Arg)
c.5692G>C (p.Gly1898Arg)
c.6190G>C (p.Gly2064Arg)
c.3787G>C (p.Gly1263Arg)
ClinVar dbSNP
2g.237361138C>TCA215987COL6A3c.5575G>A (p.Gly1859Ser)
c.6193G>A (p.Gly2065Ser)
c.4372G>A (p.Gly1458Ser)
c.5593G>A (p.Gly1865Ser)
c.4972G>A (p.Gly1658Ser)
c.5692G>A (p.Gly1898Ser)
c.6190G>A (p.Gly2064Ser)
c.3787G>A (p.Gly1263Ser)
ClinVar dbSNP
2g.237361139A=CA1337618636COL6A3c.5574T= (p.Pro1858=)
c.6192T= (p.Pro2064=)
c.4371T= (p.Pro1457=)
c.5592T= (p.Pro1864=)
c.4971T= (p.Pro1657=)
c.5691T= (p.Pro1897=)
c.6189T= (p.Pro2063=)
c.3786T= (p.Pro1262=)
2g.237361139A>CCA431678505COL6A3c.5574T>G (p.Pro1858=)
c.6192T>G (p.Pro2064=)
c.4371T>G (p.Pro1457=)
c.5592T>G (p.Pro1864=)
c.4971T>G (p.Pro1657=)
c.5691T>G (p.Pro1897=)
c.6189T>G (p.Pro2063=)
c.3786T>G (p.Pro1262=)
2g.237361139A>GCA67855151COL6A3c.5574T>C (p.Pro1858=)
c.6192T>C (p.Pro2064=)
c.4371T>C (p.Pro1457=)
c.5592T>C (p.Pro1864=)
c.4971T>C (p.Pro1657=)
c.5691T>C (p.Pro1897=)
c.6189T>C (p.Pro2063=)
c.3786T>C (p.Pro1262=)
dbSNP gnomAD v4
2g.237361139A>TCA431678506COL6A3c.5574T>A (p.Pro1858=)
c.6192T>A (p.Pro2064=)
c.4371T>A (p.Pro1457=)
c.5592T>A (p.Pro1864=)
c.4971T>A (p.Pro1657=)
c.5691T>A (p.Pro1897=)
c.6189T>A (p.Pro2063=)
c.3786T>A (p.Pro1262=)
2g.237361140G>ACA351217427COL6A3c.5573C>T (p.Pro1858Leu)
c.6191C>T (p.Pro2064Leu)
c.4370C>T (p.Pro1457Leu)
c.5591C>T (p.Pro1864Leu)
c.4970C>T (p.Pro1657Leu)
c.5690C>T (p.Pro1897Leu)
c.6188C>T (p.Pro2063Leu)
c.3785C>T (p.Pro1262Leu)
2g.237361140G>CCA351217424COL6A3c.5573C>G (p.Pro1858Arg)
c.6191C>G (p.Pro2064Arg)
c.4370C>G (p.Pro1457Arg)
c.5591C>G (p.Pro1864Arg)
c.4970C>G (p.Pro1657Arg)
c.5690C>G (p.Pro1897Arg)
c.6188C>G (p.Pro2063Arg)
c.3785C>G (p.Pro1262Arg)
2g.237361140G>TCA351217426COL6A3c.5573C>A (p.Pro1858His)
c.6191C>A (p.Pro2064His)
c.4370C>A (p.Pro1457His)
c.5591C>A (p.Pro1864His)
c.4970C>A (p.Pro1657His)
c.5690C>A (p.Pro1897His)
c.6188C>A (p.Pro2063His)
c.3785C>A (p.Pro1262His)
2g.237361141G>ACA2188422COL6A3c.5572C>T (p.Pro1858Ser)
c.6190C>T (p.Pro2064Ser)
c.4369C>T (p.Pro1457Ser)
c.5590C>T (p.Pro1864Ser)
c.4969C>T (p.Pro1657Ser)
c.5689C>T (p.Pro1897Ser)
c.6187C>T (p.Pro2063Ser)
c.3784C>T (p.Pro1262Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.237361141G>CCA351217430COL6A3c.5572C>G (p.Pro1858Ala)
c.6190C>G (p.Pro2064Ala)
c.4369C>G (p.Pro1457Ala)
c.5590C>G (p.Pro1864Ala)
c.4969C>G (p.Pro1657Ala)
c.5689C>G (p.Pro1897Ala)
c.6187C>G (p.Pro2063Ala)
c.3784C>G (p.Pro1262Ala)
gnomAD v4
2g.237361141G=CA1337618638COL6A3c.5572C= (p.Pro1858=)
c.6190C= (p.Pro2064=)
c.4369C= (p.Pro1457=)
c.5590C= (p.Pro1864=)
c.4969C= (p.Pro1657=)
c.5689C= (p.Pro1897=)
c.6187C= (p.Pro2063=)
c.3784C= (p.Pro1262=)
2g.237361141G>TCA351217432COL6A3c.5572C>A (p.Pro1858Thr)
c.6190C>A (p.Pro2064Thr)
c.4369C>A (p.Pro1457Thr)
c.5590C>A (p.Pro1864Thr)
c.4969C>A (p.Pro1657Thr)
c.5689C>A (p.Pro1897Thr)
c.6187C>A (p.Pro2063Thr)
c.3784C>A (p.Pro1262Thr)
2g.237361142A>CCA351217434COL6A3c.5571T>G (p.Tyr1857Ter)
c.6189T>G (p.Tyr2063Ter)
c.4368T>G (p.Tyr1456Ter)
c.5589T>G (p.Tyr1863Ter)
c.4968T>G (p.Tyr1656Ter)
c.5688T>G (p.Tyr1896Ter)
c.6186T>G (p.Tyr2062Ter)
c.3783T>G (p.Tyr1261Ter)
2g.237361142A>GCA431678507COL6A3c.5571T>C (p.Tyr1857=)
c.6189T>C (p.Tyr2063=)
c.4368T>C (p.Tyr1456=)
c.5589T>C (p.Tyr1863=)
c.4968T>C (p.Tyr1656=)
c.5688T>C (p.Tyr1896=)
c.6186T>C (p.Tyr2062=)
c.3783T>C (p.Tyr1261=)
2g.237361142A>TCA351217436COL6A3c.5571T>A (p.Tyr1857Ter)
c.6189T>A (p.Tyr2063Ter)
c.4368T>A (p.Tyr1456Ter)
c.5589T>A (p.Tyr1863Ter)
c.4968T>A (p.Tyr1656Ter)
c.5688T>A (p.Tyr1896Ter)
c.6186T>A (p.Tyr2062Ter)
c.3783T>A (p.Tyr1261Ter)
2g.237361143T>ACA351217438COL6A3c.5570A>T (p.Tyr1857Phe)
c.6188A>T (p.Tyr2063Phe)
c.4367A>T (p.Tyr1456Phe)
c.5588A>T (p.Tyr1863Phe)
c.4967A>T (p.Tyr1656Phe)
c.5687A>T (p.Tyr1896Phe)
c.6185A>T (p.Tyr2062Phe)
c.3782A>T (p.Tyr1261Phe)
2g.237361143T>CCA351217439COL6A3c.5570A>G (p.Tyr1857Cys)
c.6188A>G (p.Tyr2063Cys)
c.4367A>G (p.Tyr1456Cys)
c.5588A>G (p.Tyr1863Cys)
c.4967A>G (p.Tyr1656Cys)
c.5687A>G (p.Tyr1896Cys)
c.6185A>G (p.Tyr2062Cys)
c.3782A>G (p.Tyr1261Cys)
ClinVar dbSNP
2g.237361143T>GCA351217440COL6A3c.5570A>C (p.Tyr1857Ser)
c.6188A>C (p.Tyr2063Ser)
c.4367A>C (p.Tyr1456Ser)
c.5588A>C (p.Tyr1863Ser)
c.4967A>C (p.Tyr1656Ser)
c.5687A>C (p.Tyr1896Ser)
c.6185A>C (p.Tyr2062Ser)
c.3782A>C (p.Tyr1261Ser)
2g.237361144A>CCA351217441COL6A3c.5569T>G (p.Tyr1857Asp)
c.6187T>G (p.Tyr2063Asp)
c.4366T>G (p.Tyr1456Asp)
c.5587T>G (p.Tyr1863Asp)
c.4966T>G (p.Tyr1656Asp)
c.5686T>G (p.Tyr1896Asp)
c.6184T>G (p.Tyr2062Asp)
c.3781T>G (p.Tyr1261Asp)
2g.237361144A>GCA351217442COL6A3c.5569T>C (p.Tyr1857His)
c.6187T>C (p.Tyr2063His)
c.4366T>C (p.Tyr1456His)
c.5587T>C (p.Tyr1863His)
c.4966T>C (p.Tyr1656His)
c.5686T>C (p.Tyr1896His)
c.6184T>C (p.Tyr2062His)
c.3781T>C (p.Tyr1261His)
2g.237361144A>TCA351217443COL6A3c.5569T>A (p.Tyr1857Asn)
c.6187T>A (p.Tyr2063Asn)
c.4366T>A (p.Tyr1456Asn)
c.5587T>A (p.Tyr1863Asn)
c.4966T>A (p.Tyr1656Asn)
c.5686T>A (p.Tyr1896Asn)
c.6184T>A (p.Tyr2062Asn)
c.3781T>A (p.Tyr1261Asn)
2g.237361145G>ACA431678510COL6A3c.5568C>T (p.Gly1856=)
c.6186C>T (p.Gly2062=)
c.4365C>T (p.Gly1455=)
c.5586C>T (p.Gly1862=)
c.4965C>T (p.Gly1655=)
c.5685C>T (p.Gly1895=)
c.6183C>T (p.Gly2061=)
c.3780C>T (p.Gly1260=)
COSMIC
2g.237361145G>CCA431678508COL6A3c.5568C>G (p.Gly1856=)
c.6186C>G (p.Gly2062=)
c.4365C>G (p.Gly1455=)
c.5586C>G (p.Gly1862=)
c.4965C>G (p.Gly1655=)
c.5685C>G (p.Gly1895=)
c.6183C>G (p.Gly2061=)
c.3780C>G (p.Gly1260=)
2g.237361145G>TCA431678509COL6A3c.5568C>A (p.Gly1856=)
c.6186C>A (p.Gly2062=)
c.4365C>A (p.Gly1455=)
c.5586C>A (p.Gly1862=)
c.4965C>A (p.Gly1655=)
c.5685C>A (p.Gly1895=)
c.6183C>A (p.Gly2061=)
c.3780C>A (p.Gly1260=)
2g.237361146C>ACA351217444COL6A3c.5567G>T (p.Gly1856Val)
c.6185G>T (p.Gly2062Val)
c.4364G>T (p.Gly1455Val)
c.5585G>T (p.Gly1862Val)
c.4964G>T (p.Gly1655Val)
c.5684G>T (p.Gly1895Val)
c.6182G>T (p.Gly2061Val)
c.3779G>T (p.Gly1260Val)
2g.237361146C>GCA351217449COL6A3c.5567G>C (p.Gly1856Ala)
c.6185G>C (p.Gly2062Ala)
c.4364G>C (p.Gly1455Ala)
c.5585G>C (p.Gly1862Ala)
c.4964G>C (p.Gly1655Ala)
c.5684G>C (p.Gly1895Ala)
c.6182G>C (p.Gly2061Ala)
c.3779G>C (p.Gly1260Ala)
2g.237361146C>TCA351217448COL6A3c.5567G>A (p.Gly1856Asp)
c.6185G>A (p.Gly2062Asp)
c.4364G>A (p.Gly1455Asp)
c.5585G>A (p.Gly1862Asp)
c.4964G>A (p.Gly1655Asp)
c.5684G>A (p.Gly1895Asp)
c.6182G>A (p.Gly2061Asp)
c.3779G>A (p.Gly1260Asp)
ClinVar dbSNP
2g.237361147C>ACA351217450COL6A3c.5566G>T (p.Gly1856Cys)
c.6184G>T (p.Gly2062Cys)
c.4363G>T (p.Gly1455Cys)
c.5584G>T (p.Gly1862Cys)
c.4963G>T (p.Gly1655Cys)
c.5683G>T (p.Gly1895Cys)
c.6181G>T (p.Gly2061Cys)
c.3778G>T (p.Gly1260Cys)
2g.237361147C>GCA351217451COL6A3c.5566G>C (p.Gly1856Arg)
c.6184G>C (p.Gly2062Arg)
c.4363G>C (p.Gly1455Arg)
c.5584G>C (p.Gly1862Arg)
c.4963G>C (p.Gly1655Arg)
c.5683G>C (p.Gly1895Arg)
c.6181G>C (p.Gly2061Arg)
c.3778G>C (p.Gly1260Arg)
2g.237361147C>TCA351217452COL6A3c.5566G>A (p.Gly1856Ser)
c.6184G>A (p.Gly2062Ser)
c.4363G>A (p.Gly1455Ser)
c.5584G>A (p.Gly1862Ser)
c.4963G>A (p.Gly1655Ser)
c.5683G>A (p.Gly1895Ser)
c.6181G>A (p.Gly2061Ser)
c.3778G>A (p.Gly1260Ser)
2g.237361148T>ACA431678511COL6A3c.5565A>T (p.Arg1855=)
c.6183A>T (p.Arg2061=)
c.4362A>T (p.Arg1454=)
c.5583A>T (p.Arg1861=)
c.4962A>T (p.Arg1654=)
c.5682A>T (p.Arg1894=)
c.6180A>T (p.Arg2060=)
c.3777A>T (p.Arg1259=)
2g.237361148T>CCA431678512COL6A3c.5565A>G (p.Arg1855=)
c.6183A>G (p.Arg2061=)
c.4362A>G (p.Arg1454=)
c.5583A>G (p.Arg1861=)
c.4962A>G (p.Arg1654=)
c.5682A>G (p.Arg1894=)
c.6180A>G (p.Arg2060=)
c.3777A>G (p.Arg1259=)
2g.237361148T>GCA431678513COL6A3c.5565A>C (p.Arg1855=)
c.6183A>C (p.Arg2061=)
c.4362A>C (p.Arg1454=)
c.5583A>C (p.Arg1861=)
c.4962A>C (p.Arg1654=)
c.5682A>C (p.Arg1894=)
c.6180A>C (p.Arg2060=)
c.3777A>C (p.Arg1259=)
2g.237361149C>ACA351217454COL6A3c.5564G>T (p.Arg1855Leu)
c.6182G>T (p.Arg2061Leu)
c.4361G>T (p.Arg1454Leu)
c.5582G>T (p.Arg1861Leu)
c.4961G>T (p.Arg1654Leu)
c.5681G>T (p.Arg1894Leu)
c.6179G>T (p.Arg2060Leu)
c.3776G>T (p.Arg1259Leu)
2g.237361149C=CA1337618643COL6A3c.5564G= (p.Arg1855=)
c.6182G= (p.Arg2061=)
c.4361G= (p.Arg1454=)
c.5582G= (p.Arg1861=)
c.4961G= (p.Arg1654=)
c.5681G= (p.Arg1894=)
c.6179G= (p.Arg2060=)
c.3776G= (p.Arg1259=)
2g.237361149C>GCA351217458COL6A3c.5564G>C (p.Arg1855Pro)
c.6182G>C (p.Arg2061Pro)
c.4361G>C (p.Arg1454Pro)
c.5582G>C (p.Arg1861Pro)
c.4961G>C (p.Arg1654Pro)
c.5681G>C (p.Arg1894Pro)
c.6179G>C (p.Arg2060Pro)
c.3776G>C (p.Arg1259Pro)
2g.237361149C>TCA2188423COL6A3c.5564G>A (p.Arg1855Gln)
c.6182G>A (p.Arg2061Gln)
c.4361G>A (p.Arg1454Gln)
c.5582G>A (p.Arg1861Gln)
c.4961G>A (p.Arg1654Gln)
c.5681G>A (p.Arg1894Gln)
c.6179G>A (p.Arg2060Gln)
c.3776G>A (p.Arg1259Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237361150G>ACA205930COL6A3c.5563C>T (p.Arg1855Ter)
c.6181C>T (p.Arg2061Ter)
c.4360C>T (p.Arg1454Ter)
c.5581C>T (p.Arg1861Ter)
c.4960C>T (p.Arg1654Ter)
c.5680C>T (p.Arg1894Ter)
c.6178C>T (p.Arg2060Ter)
c.3775C>T (p.Arg1259Ter)
ClinVar dbSNP gnomAD v4
2g.237361150G>CCA351217468COL6A3c.5563C>G (p.Arg1855Gly)
c.6181C>G (p.Arg2061Gly)
c.4360C>G (p.Arg1454Gly)
c.5581C>G (p.Arg1861Gly)
c.4960C>G (p.Arg1654Gly)
c.5680C>G (p.Arg1894Gly)
c.6178C>G (p.Arg2060Gly)
c.3775C>G (p.Arg1259Gly)
2g.237361150G=CA1337618651COL6A3c.5563C= (p.Arg1855=)
c.6181C= (p.Arg2061=)
c.4360C= (p.Arg1454=)
c.5581C= (p.Arg1861=)
c.4960C= (p.Arg1654=)
c.5680C= (p.Arg1894=)
c.6178C= (p.Arg2060=)
c.3775C= (p.Arg1259=)
2g.237361150G>TCA431678514COL6A3c.5563C>A (p.Arg1855=)
c.6181C>A (p.Arg2061=)
c.4360C>A (p.Arg1454=)
c.5581C>A (p.Arg1861=)
c.4960C>A (p.Arg1654=)
c.5680C>A (p.Arg1894=)
c.6178C>A (p.Arg2060=)
c.3775C>A (p.Arg1259=)
2g.237361151G>ACA2188424COL6A3c.5562C>T (p.Tyr1854=)
c.6180C>T (p.Tyr2060=)
c.4359C>T (p.Tyr1453=)
c.5580C>T (p.Tyr1860=)
c.4959C>T (p.Tyr1653=)
c.5679C>T (p.Tyr1893=)
c.6177C>T (p.Tyr2059=)
c.3774C>T (p.Tyr1258=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237361151G>CCA351217472COL6A3c.5562C>G (p.Tyr1854Ter)
c.6180C>G (p.Tyr2060Ter)
c.4359C>G (p.Tyr1453Ter)
c.5580C>G (p.Tyr1860Ter)
c.4959C>G (p.Tyr1653Ter)
c.5679C>G (p.Tyr1893Ter)
c.6177C>G (p.Tyr2059Ter)
c.3774C>G (p.Tyr1258Ter)
2g.237361151G=CA1337618656COL6A3c.5562C= (p.Tyr1854=)
c.6180C= (p.Tyr2060=)
c.4359C= (p.Tyr1453=)
c.5580C= (p.Tyr1860=)
c.4959C= (p.Tyr1653=)
c.5679C= (p.Tyr1893=)
c.6177C= (p.Tyr2059=)
c.3774C= (p.Tyr1258=)
2g.237361151G>TCA351217473COL6A3c.5562C>A (p.Tyr1854Ter)
c.6180C>A (p.Tyr2060Ter)
c.4359C>A (p.Tyr1453Ter)
c.5580C>A (p.Tyr1860Ter)
c.4959C>A (p.Tyr1653Ter)
c.5679C>A (p.Tyr1893Ter)
c.6177C>A (p.Tyr2059Ter)
c.3774C>A (p.Tyr1258Ter)
2g.237361152T>ACA351217480COL6A3c.5561A>T (p.Tyr1854Phe)
c.6179A>T (p.Tyr2060Phe)
c.4358A>T (p.Tyr1453Phe)
c.5579A>T (p.Tyr1860Phe)
c.4958A>T (p.Tyr1653Phe)
c.5678A>T (p.Tyr1893Phe)
c.6176A>T (p.Tyr2059Phe)
c.3773A>T (p.Tyr1258Phe)
2g.237361152T>CCA351217479COL6A3c.5561A>G (p.Tyr1854Cys)
c.6179A>G (p.Tyr2060Cys)
c.4358A>G (p.Tyr1453Cys)
c.5579A>G (p.Tyr1860Cys)
c.4958A>G (p.Tyr1653Cys)
c.5678A>G (p.Tyr1893Cys)
c.6176A>G (p.Tyr2059Cys)
c.3773A>G (p.Tyr1258Cys)
2g.237361152T>GCA351217478COL6A3c.5561A>C (p.Tyr1854Ser)
c.6179A>C (p.Tyr2060Ser)
c.4358A>C (p.Tyr1453Ser)
c.5579A>C (p.Tyr1860Ser)
c.4958A>C (p.Tyr1653Ser)
c.5678A>C (p.Tyr1893Ser)
c.6176A>C (p.Tyr2059Ser)
c.3773A>C (p.Tyr1258Ser)
2g.237361153A>CCA351217496COL6A3c.5560T>G (p.Tyr1854Asp)
c.6178T>G (p.Tyr2060Asp)
c.4357T>G (p.Tyr1453Asp)
c.5578T>G (p.Tyr1860Asp)
c.4957T>G (p.Tyr1653Asp)
c.5677T>G (p.Tyr1893Asp)
c.6175T>G (p.Tyr2059Asp)
c.3772T>G (p.Tyr1258Asp)
2g.237361153A>GCA351217482COL6A3c.5560T>C (p.Tyr1854His)
c.6178T>C (p.Tyr2060His)
c.4357T>C (p.Tyr1453His)
c.5578T>C (p.Tyr1860His)
c.4957T>C (p.Tyr1653His)
c.5677T>C (p.Tyr1893His)
c.6175T>C (p.Tyr2059His)
c.3772T>C (p.Tyr1258His)
gnomAD v4
2g.237361153A>TCA351217489COL6A3c.5560T>A (p.Tyr1854Asn)
c.6178T>A (p.Tyr2060Asn)
c.4357T>A (p.Tyr1453Asn)
c.5578T>A (p.Tyr1860Asn)
c.4957T>A (p.Tyr1653Asn)
c.5677T>A (p.Tyr1893Asn)
c.6175T>A (p.Tyr2059Asn)
c.3772T>A (p.Tyr1258Asn)
2g.237361154_237361183delCA2573129725COL6A3c.5539-8_5560del
c.6157-8_6178del
c.4336-8_4357del
c.5557-8_5578del
c.4936-8_4957del
c.5656-8_5677del
c.6154-8_6175del
c.3751-8_3772del
2g.237361154G>ACA431678515COL6A3c.5559C>T (p.Gly1853=)
c.6177C>T (p.Gly2059=)
c.4356C>T (p.Gly1452=)
c.5577C>T (p.Gly1859=)
c.4956C>T (p.Gly1652=)
c.5676C>T (p.Gly1892=)
c.6174C>T (p.Gly2058=)
c.3771C>T (p.Gly1257=)
2g.237361154G>CCA431678517COL6A3c.5559C>G (p.Gly1853=)
c.6177C>G (p.Gly2059=)
c.4356C>G (p.Gly1452=)
c.5577C>G (p.Gly1859=)
c.4956C>G (p.Gly1652=)
c.5676C>G (p.Gly1892=)
c.6174C>G (p.Gly2058=)
c.3771C>G (p.Gly1257=)
2g.237361154G>TCA431678516COL6A3c.5559C>A (p.Gly1853=)
c.6177C>A (p.Gly2059=)
c.4356C>A (p.Gly1452=)
c.5577C>A (p.Gly1859=)
c.4956C>A (p.Gly1652=)
c.5676C>A (p.Gly1892=)
c.6174C>A (p.Gly2058=)
c.3771C>A (p.Gly1257=)
COSMIC
2g.237361155C>ACA351217497COL6A3c.5558G>T (p.Gly1853Val)
c.6176G>T (p.Gly2059Val)
c.4355G>T (p.Gly1452Val)
c.5576G>T (p.Gly1859Val)
c.4955G>T (p.Gly1652Val)
c.5675G>T (p.Gly1892Val)
c.6173G>T (p.Gly2058Val)
c.3770G>T (p.Gly1257Val)
2g.237361155C>GCA351217498COL6A3c.5558G>C (p.Gly1853Ala)
c.6176G>C (p.Gly2059Ala)
c.4355G>C (p.Gly1452Ala)
c.5576G>C (p.Gly1859Ala)
c.4955G>C (p.Gly1652Ala)
c.5675G>C (p.Gly1892Ala)
c.6173G>C (p.Gly2058Ala)
c.3770G>C (p.Gly1257Ala)
2g.237361155C>TCA351217499COL6A3c.5558G>A (p.Gly1853Asp)
c.6176G>A (p.Gly2059Asp)
c.4355G>A (p.Gly1452Asp)
c.5576G>A (p.Gly1859Asp)
c.4955G>A (p.Gly1652Asp)
c.5675G>A (p.Gly1892Asp)
c.6173G>A (p.Gly2058Asp)
c.3770G>A (p.Gly1257Asp)
2g.237361156C>ACA10604870COL6A3c.5557G>T (p.Gly1853Cys)
c.6175G>T (p.Gly2059Cys)
c.4354G>T (p.Gly1452Cys)
c.5575G>T (p.Gly1859Cys)
c.4954G>T (p.Gly1652Cys)
c.5674G>T (p.Gly1892Cys)
c.6172G>T (p.Gly2058Cys)
c.3769G>T (p.Gly1257Cys)
ClinVar dbSNP
2g.237361156C=CA1337618665COL6A3c.5557G= (p.Gly1853=)
c.6175G= (p.Gly2059=)
c.4354G= (p.Gly1452=)
c.5575G= (p.Gly1859=)
c.4954G= (p.Gly1652=)
c.5674G= (p.Gly1892=)
c.6172G= (p.Gly2058=)
c.3769G= (p.Gly1257=)
2g.237361156C>GCA351217501COL6A3c.5557G>C (p.Gly1853Arg)
c.6175G>C (p.Gly2059Arg)
c.4354G>C (p.Gly1452Arg)
c.5575G>C (p.Gly1859Arg)
c.4954G>C (p.Gly1652Arg)
c.5674G>C (p.Gly1892Arg)
c.6172G>C (p.Gly2058Arg)
c.3769G>C (p.Gly1257Arg)
2g.237361156C>TCA2188425COL6A3c.5557G>A (p.Gly1853Ser)
c.6175G>A (p.Gly2059Ser)
c.4354G>A (p.Gly1452Ser)
c.5575G>A (p.Gly1859Ser)
c.4954G>A (p.Gly1652Ser)
c.5674G>A (p.Gly1892Ser)
c.6172G>A (p.Gly2058Ser)
c.3769G>A (p.Gly1257Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.237361157G>ACA2188426COL6A3c.5556C>T (p.Asp1852=)
c.6174C>T (p.Asp2058=)
c.4353C>T (p.Asp1451=)
c.5574C>T (p.Asp1858=)
c.4953C>T (p.Asp1651=)
c.5673C>T (p.Asp1891=)
c.6171C>T (p.Asp2057=)
c.3768C>T (p.Asp1256=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.237361157G>CCA351217504COL6A3c.5556C>G (p.Asp1852Glu)
c.6174C>G (p.Asp2058Glu)
c.4353C>G (p.Asp1451Glu)
c.5574C>G (p.Asp1858Glu)
c.4953C>G (p.Asp1651Glu)
c.5673C>G (p.Asp1891Glu)
c.6171C>G (p.Asp2057Glu)
c.3768C>G (p.Asp1256Glu)
2g.237361157G=CA1337618675COL6A3c.5556C= (p.Asp1852=)
c.6174C= (p.Asp2058=)
c.4353C= (p.Asp1451=)
c.5574C= (p.Asp1858=)
c.4953C= (p.Asp1651=)
c.5673C= (p.Asp1891=)
c.6171C= (p.Asp2057=)
c.3768C= (p.Asp1256=)
2g.237361157G>TCA351217505COL6A3c.5556C>A (p.Asp1852Glu)
c.6174C>A (p.Asp2058Glu)
c.4353C>A (p.Asp1451Glu)
c.5574C>A (p.Asp1858Glu)
c.4953C>A (p.Asp1651Glu)
c.5673C>A (p.Asp1891Glu)
c.6171C>A (p.Asp2057Glu)
c.3768C>A (p.Asp1256Glu)
2g.237361158T>ACA351217507COL6A3c.5555A>T (p.Asp1852Val)
c.6173A>T (p.Asp2058Val)
c.4352A>T (p.Asp1451Val)
c.5573A>T (p.Asp1858Val)
c.4952A>T (p.Asp1651Val)
c.5672A>T (p.Asp1891Val)
c.6170A>T (p.Asp2057Val)
c.3767A>T (p.Asp1256Val)
2g.237361158T>CCA351217508COL6A3c.5555A>G (p.Asp1852Gly)
c.6173A>G (p.Asp2058Gly)
c.4352A>G (p.Asp1451Gly)
c.5573A>G (p.Asp1858Gly)
c.4952A>G (p.Asp1651Gly)
c.5672A>G (p.Asp1891Gly)
c.6170A>G (p.Asp2057Gly)
c.3767A>G (p.Asp1256Gly)
2g.237361158T>GCA351217509COL6A3c.5555A>C (p.Asp1852Ala)
c.6173A>C (p.Asp2058Ala)
c.4352A>C (p.Asp1451Ala)
c.5573A>C (p.Asp1858Ala)
c.4952A>C (p.Asp1651Ala)
c.5672A>C (p.Asp1891Ala)
c.6170A>C (p.Asp2057Ala)
c.3767A>C (p.Asp1256Ala)
2g.237361159C>ACA351217513COL6A3c.5554G>T (p.Asp1852Tyr)
c.6172G>T (p.Asp2058Tyr)
c.4351G>T (p.Asp1451Tyr)
c.5572G>T (p.Asp1858Tyr)
c.4951G>T (p.Asp1651Tyr)
c.5671G>T (p.Asp1891Tyr)
c.6169G>T (p.Asp2057Tyr)
c.3766G>T (p.Asp1256Tyr)
2g.237361159C>GCA351217517COL6A3c.5554G>C (p.Asp1852His)
c.6172G>C (p.Asp2058His)
c.4351G>C (p.Asp1451His)
c.5572G>C (p.Asp1858His)
c.4951G>C (p.Asp1651His)
c.5671G>C (p.Asp1891His)
c.6169G>C (p.Asp2057His)
c.3766G>C (p.Asp1256His)
2g.237361159C>TCA351217515COL6A3c.5554G>A (p.Asp1852Asn)
c.6172G>A (p.Asp2058Asn)
c.4351G>A (p.Asp1451Asn)
c.5572G>A (p.Asp1858Asn)
c.4951G>A (p.Asp1651Asn)
c.5671G>A (p.Asp1891Asn)
c.6169G>A (p.Asp2057Asn)
c.3766G>A (p.Asp1256Asn)
2g.237361160T>ACA351217518COL6A3c.5553A>T (p.Glu1851Asp)
c.6171A>T (p.Glu2057Asp)
c.4350A>T (p.Glu1450Asp)
c.5571A>T (p.Glu1857Asp)
c.4950A>T (p.Glu1650Asp)
c.5670A>T (p.Glu1890Asp)
c.6168A>T (p.Glu2056Asp)
c.3765A>T (p.Glu1255Asp)
2g.237361160T>CCA431678518COL6A3c.5553A>G (p.Glu1851=)
c.6171A>G (p.Glu2057=)
c.4350A>G (p.Glu1450=)
c.5571A>G (p.Glu1857=)
c.4950A>G (p.Glu1650=)
c.5670A>G (p.Glu1890=)
c.6168A>G (p.Glu2056=)
c.3765A>G (p.Glu1255=)
2g.237361160T>GCA351217519COL6A3c.5553A>C (p.Glu1851Asp)
c.6171A>C (p.Glu2057Asp)
c.4350A>C (p.Glu1450Asp)
c.5571A>C (p.Glu1857Asp)
c.4950A>C (p.Glu1650Asp)
c.5670A>C (p.Glu1890Asp)
c.6168A>C (p.Glu2056Asp)
c.3765A>C (p.Glu1255Asp)
2g.237361161T>ACA351217520COL6A3c.5552A>T (p.Glu1851Val)
c.6170A>T (p.Glu2057Val)
c.4349A>T (p.Glu1450Val)
c.5570A>T (p.Glu1857Val)
c.4949A>T (p.Glu1650Val)
c.5669A>T (p.Glu1890Val)
c.6167A>T (p.Glu2056Val)
c.3764A>T (p.Glu1255Val)
2g.237361161T>CCA351217522COL6A3c.5552A>G (p.Glu1851Gly)
c.6170A>G (p.Glu2057Gly)
c.4349A>G (p.Glu1450Gly)
c.5570A>G (p.Glu1857Gly)
c.4949A>G (p.Glu1650Gly)
c.5669A>G (p.Glu1890Gly)
c.6167A>G (p.Glu2056Gly)
c.3764A>G (p.Glu1255Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237361161T>GCA351217523COL6A3c.5552A>C (p.Glu1851Ala)
c.6170A>C (p.Glu2057Ala)
c.4349A>C (p.Glu1450Ala)
c.5570A>C (p.Glu1857Ala)
c.4949A>C (p.Glu1650Ala)
c.5669A>C (p.Glu1890Ala)
c.6167A>C (p.Glu2056Ala)
c.3764A>C (p.Glu1255Ala)
2g.237361161T=CA1337618682COL6A3c.5552A= (p.Glu1851=)
c.6170A= (p.Glu2057=)
c.4349A= (p.Glu1450=)
c.5570A= (p.Glu1857=)
c.4949A= (p.Glu1650=)
c.5669A= (p.Glu1890=)
c.6167A= (p.Glu2056=)
c.3764A= (p.Glu1255=)
2g.237361162C>ACA351217524COL6A3c.5551G>T (p.Glu1851Ter)
c.6169G>T (p.Glu2057Ter)
c.4348G>T (p.Glu1450Ter)
c.5569G>T (p.Glu1857Ter)
c.4948G>T (p.Glu1650Ter)
c.5668G>T (p.Glu1890Ter)
c.6166G>T (p.Glu2056Ter)
c.3763G>T (p.Glu1255Ter)
2g.237361162C>GCA351217525COL6A3c.5551G>C (p.Glu1851Gln)
c.6169G>C (p.Glu2057Gln)
c.4348G>C (p.Glu1450Gln)
c.5569G>C (p.Glu1857Gln)
c.4948G>C (p.Glu1650Gln)
c.5668G>C (p.Glu1890Gln)
c.6166G>C (p.Glu2056Gln)
c.3763G>C (p.Glu1255Gln)
2g.237361162C>TCA351217526COL6A3c.5551G>A (p.Glu1851Lys)
c.6169G>A (p.Glu2057Lys)
c.4348G>A (p.Glu1450Lys)
c.5569G>A (p.Glu1857Lys)
c.4948G>A (p.Glu1650Lys)
c.5668G>A (p.Glu1890Lys)
c.6166G>A (p.Glu2056Lys)
c.3763G>A (p.Glu1255Lys)
gnomAD v4
2g.237361163T>ACA431678519COL6A3c.5550A>T (p.Gly1850=)
c.6168A>T (p.Gly2056=)
c.4347A>T (p.Gly1449=)
c.5568A>T (p.Gly1856=)
c.4947A>T (p.Gly1649=)
c.5667A>T (p.Gly1889=)
c.6165A>T (p.Gly2055=)
c.3762A>T (p.Gly1254=)
2g.237361163T>CCA431678520COL6A3c.5550A>G (p.Gly1850=)
c.6168A>G (p.Gly2056=)
c.4347A>G (p.Gly1449=)
c.5568A>G (p.Gly1856=)
c.4947A>G (p.Gly1649=)
c.5667A>G (p.Gly1889=)
c.6165A>G (p.Gly2055=)
c.3762A>G (p.Gly1254=)
ClinVar dbSNP
2g.237361163T>GCA431678521COL6A3c.5550A>C (p.Gly1850=)
c.6168A>C (p.Gly2056=)
c.4347A>C (p.Gly1449=)
c.5568A>C (p.Gly1856=)
c.4947A>C (p.Gly1649=)
c.5667A>C (p.Gly1889=)
c.6165A>C (p.Gly2055=)
c.3762A>C (p.Gly1254=)
gnomAD v4
2g.237361163T=CA1337618685COL6A3c.5550A= (p.Gly1850=)
c.6168A= (p.Gly2056=)
c.4347A= (p.Gly1449=)
c.5568A= (p.Gly1856=)
c.4947A= (p.Gly1649=)
c.5667A= (p.Gly1889=)
c.6165A= (p.Gly2055=)
c.3762A= (p.Gly1254=)
2g.237361164C>ACA351217528COL6A3c.5549G>T (p.Gly1850Val)
c.6167G>T (p.Gly2056Val)
c.4346G>T (p.Gly1449Val)
c.5567G>T (p.Gly1856Val)
c.4946G>T (p.Gly1649Val)
c.5666G>T (p.Gly1889Val)
c.6164G>T (p.Gly2055Val)
c.3761G>T (p.Gly1254Val)
2g.237361164C=CA1337618689COL6A3c.5549G= (p.Gly1850=)
c.6167G= (p.Gly2056=)
c.4346G= (p.Gly1449=)
c.5567G= (p.Gly1856=)
c.4946G= (p.Gly1649=)
c.5666G= (p.Gly1889=)
c.6164G= (p.Gly2055=)
c.3761G= (p.Gly1254=)
2g.237361164C>GCA351217529COL6A3c.5549G>C (p.Gly1850Ala)
c.6167G>C (p.Gly2056Ala)
c.4346G>C (p.Gly1449Ala)
c.5567G>C (p.Gly1856Ala)
c.4946G>C (p.Gly1649Ala)
c.5666G>C (p.Gly1889Ala)
c.6164G>C (p.Gly2055Ala)
c.3761G>C (p.Gly1254Ala)
2g.237361164C>TCA16617501COL6A3c.5549G>A (p.Gly1850Glu)
c.6167G>A (p.Gly2056Glu)
c.4346G>A (p.Gly1449Glu)
c.5567G>A (p.Gly1856Glu)
c.4946G>A (p.Gly1649Glu)
c.5666G>A (p.Gly1889Glu)
c.6164G>A (p.Gly2055Glu)
c.3761G>A (p.Gly1254Glu)
ClinVar dbSNP
2g.237361165C>ACA351217538COL6A3c.5548G>T (p.Gly1850Ter)
c.6166G>T (p.Gly2056Ter)
c.4345G>T (p.Gly1449Ter)
c.5566G>T (p.Gly1856Ter)
c.4945G>T (p.Gly1649Ter)
c.5665G>T (p.Gly1889Ter)
c.6163G>T (p.Gly2055Ter)
c.3760G>T (p.Gly1254Ter)
2g.237361165C>GCA351217540COL6A3c.5548G>C (p.Gly1850Arg)
c.6166G>C (p.Gly2056Arg)
c.4345G>C (p.Gly1449Arg)
c.5566G>C (p.Gly1856Arg)
c.4945G>C (p.Gly1649Arg)
c.5665G>C (p.Gly1889Arg)
c.6163G>C (p.Gly2055Arg)
c.3760G>C (p.Gly1254Arg)
2g.237361165C>TCA351217536COL6A3c.5548G>A (p.Gly1850Arg)
c.6166G>A (p.Gly2056Arg)
c.4345G>A (p.Gly1449Arg)
c.5566G>A (p.Gly1856Arg)
c.4945G>A (p.Gly1649Arg)
c.5665G>A (p.Gly1889Arg)
c.6163G>A (p.Gly2055Arg)
c.3760G>A (p.Gly1254Arg)
2g.237361166A=CA1337618692COL6A3c.5547T= (p.Pro1849=)
c.6165T= (p.Pro2055=)
c.4344T= (p.Pro1448=)
c.5565T= (p.Pro1855=)
c.4944T= (p.Pro1648=)
c.5664T= (p.Pro1888=)
c.6162T= (p.Pro2054=)
c.3759T= (p.Pro1253=)
2g.237361166A>CCA431678522COL6A3c.5547T>G (p.Pro1849=)
c.6165T>G (p.Pro2055=)
c.4344T>G (p.Pro1448=)
c.5565T>G (p.Pro1855=)
c.4944T>G (p.Pro1648=)
c.5664T>G (p.Pro1888=)
c.6162T>G (p.Pro2054=)
c.3759T>G (p.Pro1253=)
2g.237361166A>GCA431678523COL6A3c.5547T>C (p.Pro1849=)
c.6165T>C (p.Pro2055=)
c.4344T>C (p.Pro1448=)
c.5565T>C (p.Pro1855=)
c.4944T>C (p.Pro1648=)
c.5664T>C (p.Pro1888=)
c.6162T>C (p.Pro2054=)
c.3759T>C (p.Pro1253=)
2g.237361166A>TCA2188427COL6A3c.5547T>A (p.Pro1849=)
c.6165T>A (p.Pro2055=)
c.4344T>A (p.Pro1448=)
c.5565T>A (p.Pro1855=)
c.4944T>A (p.Pro1648=)
c.5664T>A (p.Pro1888=)
c.6162T>A (p.Pro2054=)
c.3759T>A (p.Pro1253=)
dbSNP ExAC
2g.237361167G>ACA351217553COL6A3c.5546C>T (p.Pro1849Leu)
c.6164C>T (p.Pro2055Leu)
c.4343C>T (p.Pro1448Leu)
c.5564C>T (p.Pro1855Leu)
c.4943C>T (p.Pro1648Leu)
c.5663C>T (p.Pro1888Leu)
c.6161C>T (p.Pro2054Leu)
c.3758C>T (p.Pro1253Leu)
2g.237361167G>CCA351217550COL6A3c.5546C>G (p.Pro1849Arg)
c.6164C>G (p.Pro2055Arg)
c.4343C>G (p.Pro1448Arg)
c.5564C>G (p.Pro1855Arg)
c.4943C>G (p.Pro1648Arg)
c.5663C>G (p.Pro1888Arg)
c.6161C>G (p.Pro2054Arg)
c.3758C>G (p.Pro1253Arg)
2g.237361167G>TCA351217552COL6A3c.5546C>A (p.Pro1849His)
c.6164C>A (p.Pro2055His)
c.4343C>A (p.Pro1448His)
c.5564C>A (p.Pro1855His)
c.4943C>A (p.Pro1648His)
c.5663C>A (p.Pro1888His)
c.6161C>A (p.Pro2054His)
c.3758C>A (p.Pro1253His)
2g.237361168G>ACA351217556COL6A3c.5545C>T (p.Pro1849Ser)
c.6163C>T (p.Pro2055Ser)
c.4342C>T (p.Pro1448Ser)
c.5563C>T (p.Pro1855Ser)
c.4942C>T (p.Pro1648Ser)
c.5662C>T (p.Pro1888Ser)
c.6160C>T (p.Pro2054Ser)
c.3757C>T (p.Pro1253Ser)
2g.237361168G>CCA351217558COL6A3c.5545C>G (p.Pro1849Ala)
c.6163C>G (p.Pro2055Ala)
c.4342C>G (p.Pro1448Ala)
c.5563C>G (p.Pro1855Ala)
c.4942C>G (p.Pro1648Ala)
c.5662C>G (p.Pro1888Ala)
c.6160C>G (p.Pro2054Ala)
c.3757C>G (p.Pro1253Ala)
2g.237361168G>TCA351217561COL6A3c.5545C>A (p.Pro1849Thr)
c.6163C>A (p.Pro2055Thr)
c.4342C>A (p.Pro1448Thr)
c.5563C>A (p.Pro1855Thr)
c.4942C>A (p.Pro1648Thr)
c.5662C>A (p.Pro1888Thr)
c.6160C>A (p.Pro2054Thr)
c.3757C>A (p.Pro1253Thr)
2g.237361169A=CA1337618696COL6A3c.5544T= (p.Ile1848=)
c.6162T= (p.Ile2054=)
c.4341T= (p.Ile1447=)
c.5562T= (p.Ile1854=)
c.4941T= (p.Ile1647=)
c.5661T= (p.Ile1887=)
c.6159T= (p.Ile2053=)
c.3756T= (p.Ile1252=)
2g.237361169A>CCA351217563COL6A3c.5544T>G (p.Ile1848Met)
c.6162T>G (p.Ile2054Met)
c.4341T>G (p.Ile1447Met)
c.5562T>G (p.Ile1854Met)
c.4941T>G (p.Ile1647Met)
c.5661T>G (p.Ile1887Met)
c.6159T>G (p.Ile2053Met)
c.3756T>G (p.Ile1252Met)
2g.237361169A>GCA431678524COL6A3c.5544T>C (p.Ile1848=)
c.6162T>C (p.Ile2054=)
c.4341T>C (p.Ile1447=)
c.5562T>C (p.Ile1854=)
c.4941T>C (p.Ile1647=)
c.5661T>C (p.Ile1887=)
c.6159T>C (p.Ile2053=)
c.3756T>C (p.Ile1252=)
2g.237361169A>TCA2188428COL6A3c.5544T>A (p.Ile1848=)
c.6162T>A (p.Ile2054=)
c.4341T>A (p.Ile1447=)
c.5562T>A (p.Ile1854=)
c.4941T>A (p.Ile1647=)
c.5661T>A (p.Ile1887=)
c.6159T>A (p.Ile2053=)
c.3756T>A (p.Ile1252=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237361170A>CCA351217566COL6A3c.5543T>G (p.Ile1848Ser)
c.6161T>G (p.Ile2054Ser)
c.4340T>G (p.Ile1447Ser)
c.5561T>G (p.Ile1854Ser)
c.4940T>G (p.Ile1647Ser)
c.5660T>G (p.Ile1887Ser)
c.6158T>G (p.Ile2053Ser)
c.3755T>G (p.Ile1252Ser)
2g.237361170A>GCA351217568COL6A3c.5543T>C (p.Ile1848Thr)
c.6161T>C (p.Ile2054Thr)
c.4340T>C (p.Ile1447Thr)
c.5561T>C (p.Ile1854Thr)
c.4940T>C (p.Ile1647Thr)
c.5660T>C (p.Ile1887Thr)
c.6158T>C (p.Ile2053Thr)
c.3755T>C (p.Ile1252Thr)
dbSNP
2g.237361170A>TCA351217570COL6A3c.5543T>A (p.Ile1848Asn)
c.6161T>A (p.Ile2054Asn)
c.4340T>A (p.Ile1447Asn)
c.5561T>A (p.Ile1854Asn)
c.4940T>A (p.Ile1647Asn)
c.5660T>A (p.Ile1887Asn)
c.6158T>A (p.Ile2053Asn)
c.3755T>A (p.Ile1252Asn)
2g.237361171T>ACA351217572COL6A3c.5542A>T (p.Ile1848Phe)
c.6160A>T (p.Ile2054Phe)
c.4339A>T (p.Ile1447Phe)
c.5560A>T (p.Ile1854Phe)
c.4939A>T (p.Ile1647Phe)
c.5659A>T (p.Ile1887Phe)
c.6157A>T (p.Ile2053Phe)
c.3754A>T (p.Ile1252Phe)
2g.237361171T>CCA351217573COL6A3c.5542A>G (p.Ile1848Val)
c.6160A>G (p.Ile2054Val)
c.4339A>G (p.Ile1447Val)
c.5560A>G (p.Ile1854Val)
c.4939A>G (p.Ile1647Val)
c.5659A>G (p.Ile1887Val)
c.6157A>G (p.Ile2053Val)
c.3754A>G (p.Ile1252Val)
2g.237361171T>GCA351217574COL6A3c.5542A>C (p.Ile1848Leu)
c.6160A>C (p.Ile2054Leu)
c.4339A>C (p.Ile1447Leu)
c.5560A>C (p.Ile1854Leu)
c.4939A>C (p.Ile1647Leu)
c.5659A>C (p.Ile1887Leu)
c.6157A>C (p.Ile2053Leu)
c.3754A>C (p.Ile1252Leu)
2g.237361172A=CA1337618701COL6A3c.5541T= (p.Gly1847=)
c.6159T= (p.Gly2053=)
c.4338T= (p.Gly1446=)
c.5559T= (p.Gly1853=)
c.4938T= (p.Gly1646=)
c.5658T= (p.Gly1886=)
c.6156T= (p.Gly2052=)
c.3753T= (p.Gly1251=)
2g.237361172A>CCA431678525COL6A3c.5541T>G (p.Gly1847=)
c.6159T>G (p.Gly2053=)
c.4338T>G (p.Gly1446=)
c.5559T>G (p.Gly1853=)
c.4938T>G (p.Gly1646=)
c.5658T>G (p.Gly1886=)
c.6156T>G (p.Gly2052=)
c.3753T>G (p.Gly1251=)
2g.237361172A>GCA431678526COL6A3c.5541T>C (p.Gly1847=)
c.6159T>C (p.Gly2053=)
c.4338T>C (p.Gly1446=)
c.5559T>C (p.Gly1853=)
c.4938T>C (p.Gly1646=)
c.5658T>C (p.Gly1886=)
c.6156T>C (p.Gly2052=)
c.3753T>C (p.Gly1251=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237361172A>TCA431678527COL6A3c.5541T>A (p.Gly1847=)
c.6159T>A (p.Gly2053=)
c.4338T>A (p.Gly1446=)
c.5559T>A (p.Gly1853=)
c.4938T>A (p.Gly1646=)
c.5658T>A (p.Gly1886=)
c.6156T>A (p.Gly2052=)
c.3753T>A (p.Gly1251=)
2g.237361173C>ACA10602841COL6A3c.5540G>T (p.Gly1847Val)
c.6158G>T (p.Gly2053Val)
c.4337G>T (p.Gly1446Val)
c.5558G>T (p.Gly1853Val)
c.4937G>T (p.Gly1646Val)
c.5657G>T (p.Gly1886Val)
c.6155G>T (p.Gly2052Val)
c.3752G>T (p.Gly1251Val)
ClinVar dbSNP COSMIC
2g.237361173C=CA1337618709COL6A3c.5540G= (p.Gly1847=)
c.6158G= (p.Gly2053=)
c.4337G= (p.Gly1446=)
c.5558G= (p.Gly1853=)
c.4937G= (p.Gly1646=)
c.5657G= (p.Gly1886=)
c.6155G= (p.Gly2052=)
c.3752G= (p.Gly1251=)
2g.237361173C>GCA351217576COL6A3c.5540G>C (p.Gly1847Ala)
c.6158G>C (p.Gly2053Ala)
c.4337G>C (p.Gly1446Ala)
c.5558G>C (p.Gly1853Ala)
c.4937G>C (p.Gly1646Ala)
c.5657G>C (p.Gly1886Ala)
c.6155G>C (p.Gly2052Ala)
c.3752G>C (p.Gly1251Ala)
2g.237361173C>TCA351217575COL6A3c.5540G>A (p.Gly1847Asp)
c.6158G>A (p.Gly2053Asp)
c.4337G>A (p.Gly1446Asp)
c.5558G>A (p.Gly1853Asp)
c.4937G>A (p.Gly1646Asp)
c.5657G>A (p.Gly1886Asp)
c.6155G>A (p.Gly2052Asp)
c.3752G>A (p.Gly1251Asp)
ClinVar
2g.237361174C>ACA351217578COL6A3c.5539G>T (p.Gly1847Cys)
c.6157G>T (p.Gly2053Cys)
c.4336G>T (p.Gly1446Cys)
c.5557G>T (p.Gly1853Cys)
c.4936G>T (p.Gly1646Cys)
c.5656G>T (p.Gly1886Cys)
c.6154G>T (p.Gly2052Cys)
c.3751G>T (p.Gly1251Cys)
ClinVar dbSNP
2g.237361174C=CA1337618719COL6A3c.5539G= (p.Gly1847=)
c.6157G= (p.Gly2053=)
c.4336G= (p.Gly1446=)
c.5557G= (p.Gly1853=)
c.4936G= (p.Gly1646=)
c.5656G= (p.Gly1886=)
c.6154G= (p.Gly2052=)
c.3751G= (p.Gly1251=)
2g.237361174C>GCA351217582COL6A3c.5539G>C (p.Gly1847Arg)
c.6157G>C (p.Gly2053Arg)
c.4336G>C (p.Gly1446Arg)
c.5557G>C (p.Gly1853Arg)
c.4936G>C (p.Gly1646Arg)
c.5656G>C (p.Gly1886Arg)
c.6154G>C (p.Gly2052Arg)
c.3751G>C (p.Gly1251Arg)
ClinVar
2g.237361174C>TCA351217585COL6A3c.5539G>A (p.Gly1847Ser)
c.6157G>A (p.Gly2053Ser)
c.4336G>A (p.Gly1446Ser)
c.5557G>A (p.Gly1853Ser)
c.4936G>A (p.Gly1646Ser)
c.5656G>A (p.Gly1886Ser)
c.6154G>A (p.Gly2052Ser)
c.3751G>A (p.Gly1251Ser)
2g.237361175C>ACA351217586COL6A3c.5539-1G>T (n.5539-1G>T)
c.6157-1G>T (n.6157-1G>T)
c.4336-1G>T (n.4336-1G>T)
c.5557-1G>T (n.5557-1G>T)
c.4936-1G>T (n.4936-1G>T)
c.5656-1G>T (n.5656-1G>T)
c.6154-1G>T (n.6154-1G>T)
c.3751-1G>T (n.3751-1G>T)
2g.237361175C>GCA351217588COL6A3c.5539-1G>C (n.5539-1G>C)
c.6157-1G>C (n.6157-1G>C)
c.4336-1G>C (n.4336-1G>C)
c.5557-1G>C (n.5557-1G>C)
c.4936-1G>C (n.4936-1G>C)
c.5656-1G>C (n.5656-1G>C)
c.6154-1G>C (n.6154-1G>C)
c.3751-1G>C (n.3751-1G>C)
2g.237361175C>TCA351217590COL6A3c.5539-1G>A (n.5539-1G>A)
c.6157-1G>A (n.6157-1G>A)
c.4336-1G>A (n.4336-1G>A)
c.5557-1G>A (n.5557-1G>A)
c.4936-1G>A (n.4936-1G>A)
c.5656-1G>A (n.5656-1G>A)
c.6154-1G>A (n.6154-1G>A)
c.3751-1G>A (n.3751-1G>A)
ClinVar
2g.237361176T>ACA351217592COL6A3c.5539-2A>T (n.5539-2A>T)
c.6157-2A>T (n.6157-2A>T)
c.4336-2A>T (n.4336-2A>T)
c.5557-2A>T (n.5557-2A>T)
c.4936-2A>T (n.4936-2A>T)
c.5656-2A>T (n.5656-2A>T)
c.6154-2A>T (n.6154-2A>T)
c.3751-2A>T (n.3751-2A>T)
2g.237361176T>CCA351217593COL6A3c.5539-2A>G (n.5539-2A>G)
c.6157-2A>G (n.6157-2A>G)
c.4336-2A>G (n.4336-2A>G)
c.5557-2A>G (n.5557-2A>G)
c.4936-2A>G (n.4936-2A>G)
c.5656-2A>G (n.5656-2A>G)
c.6154-2A>G (n.6154-2A>G)
c.3751-2A>G (n.3751-2A>G)
2g.237361176T>GCA10602842COL6A3c.5539-2A>C (n.5539-2A>C)
c.6157-2A>C (n.6157-2A>C)
c.4336-2A>C (n.4336-2A>C)
c.5557-2A>C (n.5557-2A>C)
c.4936-2A>C (n.4936-2A>C)
c.5656-2A>C (n.5656-2A>C)
c.6154-2A>C (n.6154-2A>C)
c.3751-2A>C (n.3751-2A>C)
ClinVar dbSNP
2g.237361176T=CA1337618723COL6A3c.5539-2A= (n.5539-2A=)
c.6157-2A= (n.6157-2A=)
c.4336-2A= (n.4336-2A=)
c.5557-2A= (n.5557-2A=)
c.4936-2A= (n.4936-2A=)
c.5656-2A= (n.5656-2A=)
c.6154-2A= (n.6154-2A=)
c.3751-2A= (n.3751-2A=)
2g.237361177G>ACA2577289869COL6A3c.5539-3C>T (n.5539-3C>T)
c.6157-3C>T (n.6157-3C>T)
c.4336-3C>T (n.4336-3C>T)
c.5557-3C>T (n.5557-3C>T)
c.4936-3C>T (n.4936-3C>T)
c.5656-3C>T (n.5656-3C>T)
c.6154-3C>T (n.6154-3C>T)
c.3751-3C>T (n.3751-3C>T)
2g.237361177G>TCA2663795494COL6A3c.5539-3C>A (n.5539-3C>A)
c.6157-3C>A (n.6157-3C>A)
c.4336-3C>A (n.4336-3C>A)
c.5557-3C>A (n.5557-3C>A)
c.4936-3C>A (n.4936-3C>A)
c.5656-3C>A (n.5656-3C>A)
c.6154-3C>A (n.6154-3C>A)
c.3751-3C>A (n.3751-3C>A)
gnomAD v4
2g.237361178A=CA1337618728COL6A3c.5539-4T= (n.5539-4T=)
c.6157-4T= (n.6157-4T=)
c.4336-4T= (n.4336-4T=)
c.5557-4T= (n.5557-4T=)
c.4936-4T= (n.4936-4T=)
c.5656-4T= (n.5656-4T=)
c.6154-4T= (n.6154-4T=)
c.3751-4T= (n.3751-4T=)
2g.237361178A>CCA233828COL6A3c.5539-4T>G (n.5539-4T>G)
c.6157-4T>G (n.6157-4T>G)
c.4336-4T>G (n.4336-4T>G)
c.5557-4T>G (n.5557-4T>G)
c.4936-4T>G (n.4936-4T>G)
c.5656-4T>G (n.5656-4T>G)
c.6154-4T>G (n.6154-4T>G)
c.3751-4T>G (n.3751-4T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237361183A>GCA2701837956COL6A3c.5539-9T>C (n.5539-9T>C)
c.6157-9T>C (n.6157-9T>C)
c.4336-9T>C (n.4336-9T>C)
c.5557-9T>C (n.5557-9T>C)
c.4936-9T>C (n.4936-9T>C)
c.5656-9T>C (n.5656-9T>C)
c.6154-9T>C (n.6154-9T>C)
c.3751-9T>C (n.3751-9T>C)
dbSNP
2g.237361184A>TCA2663795504COL6A3c.5539-10T>A (n.5539-10T>A)
c.6157-10T>A (n.6157-10T>A)
c.4336-10T>A (n.4336-10T>A)
c.5557-10T>A (n.5557-10T>A)
c.4936-10T>A (n.4936-10T>A)
c.5656-10T>A (n.5656-10T>A)
c.6154-10T>A (n.6154-10T>A)
c.3751-10T>A (n.3751-10T>A)
gnomAD v4
2g.237361186T>CCA2188429COL6A3c.5539-12A>G (n.5539-12A>G)
c.6157-12A>G (n.6157-12A>G)
c.4336-12A>G (n.4336-12A>G)
c.5557-12A>G (n.5557-12A>G)
c.4936-12A>G (n.4936-12A>G)
c.5656-12A>G (n.5656-12A>G)
c.6154-12A>G (n.6154-12A>G)
c.3751-12A>G (n.3751-12A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.237361186T=CA1337618733COL6A3c.5539-12A= (n.5539-12A=)
c.6157-12A= (n.6157-12A=)
c.4336-12A= (n.4336-12A=)
c.5557-12A= (n.5557-12A=)
c.4936-12A= (n.4936-12A=)
c.5656-12A= (n.5656-12A=)
c.6154-12A= (n.6154-12A=)
c.3751-12A= (n.3751-12A=)
2g.237361187A=CA1337618735COL6A3c.5539-13T= (n.5539-13T=)
c.6157-13T= (n.6157-13T=)
c.4336-13T= (n.4336-13T=)
c.5557-13T= (n.5557-13T=)
c.4936-13T= (n.4936-13T=)
c.5656-13T= (n.5656-13T=)
c.6154-13T= (n.6154-13T=)
c.3751-13T= (n.3751-13T=)
2g.237361187A>CCA2577289870COL6A3c.5539-13T>G (n.5539-13T>G)
c.6157-13T>G (n.6157-13T>G)
c.4336-13T>G (n.4336-13T>G)
c.5557-13T>G (n.5557-13T>G)
c.4936-13T>G (n.4936-13T>G)
c.5656-13T>G (n.5656-13T>G)
c.6154-13T>G (n.6154-13T>G)
c.3751-13T>G (n.3751-13T>G)
gnomAD v4
2g.237361187A>GCA2663795512COL6A3c.5539-13T>C (n.5539-13T>C)
c.6157-13T>C (n.6157-13T>C)
c.4336-13T>C (n.4336-13T>C)
c.5557-13T>C (n.5557-13T>C)
c.4936-13T>C (n.4936-13T>C)
c.5656-13T>C (n.5656-13T>C)
c.6154-13T>C (n.6154-13T>C)
c.3751-13T>C (n.3751-13T>C)
gnomAD v4
2g.237361187A>TCA540464261COL6A3c.5539-13T>A (n.5539-13T>A)
c.6157-13T>A (n.6157-13T>A)
c.4336-13T>A (n.4336-13T>A)
c.5557-13T>A (n.5557-13T>A)
c.4936-13T>A (n.4936-13T>A)
c.5656-13T>A (n.5656-13T>A)
c.6154-13T>A (n.6154-13T>A)
c.3751-13T>A (n.3751-13T>A)
dbSNP gnomAD v2 gnomAD v4
2g.237361188A=CA1337618738COL6A3c.5539-14T= (n.5539-14T=)
c.6157-14T= (n.6157-14T=)
c.4336-14T= (n.4336-14T=)
c.5557-14T= (n.5557-14T=)
c.4936-14T= (n.4936-14T=)
c.5656-14T= (n.5656-14T=)
c.6154-14T= (n.6154-14T=)
c.3751-14T= (n.3751-14T=)
2g.237361188A>GCA766578276COL6A3c.5539-14T>C (n.5539-14T>C)
c.6157-14T>C (n.6157-14T>C)
c.4336-14T>C (n.4336-14T>C)
c.5557-14T>C (n.5557-14T>C)
c.4936-14T>C (n.4936-14T>C)
c.5656-14T>C (n.5656-14T>C)
c.6154-14T>C (n.6154-14T>C)
c.3751-14T>C (n.3751-14T>C)
dbSNP
2g.237361188_237361196delinsATCGGGTCCCA1337618739COL6A3c.5539-22_5539-14delinsGGACCCGAT (n.5539-22_5539-14delinsGGACCCGAT)
c.6157-22_6157-14delinsGGACCCGAT (n.6157-22_6157-14delinsGGACCCGAT)
c.4336-22_4336-14delinsGGACCCGAT (n.4336-22_4336-14delinsGGACCCGAT)
c.5557-22_5557-14delinsGGACCCGAT (n.5557-22_5557-14delinsGGACCCGAT)
c.4936-22_4936-14delinsGGACCCGAT (n.4936-22_4936-14delinsGGACCCGAT)
c.5656-22_5656-14delinsGGACCCGAT (n.5656-22_5656-14delinsGGACCCGAT)
c.6154-22_6154-14delinsGGACCCGAT (n.6154-22_6154-14delinsGGACCCGAT)
c.3751-22_3751-14delinsGGACCCGAT (n.3751-22_3751-14delinsGGACCCGAT)
2g.237361191_237361198delCA1337618742COL6A3c.5539-22_5539-15del (n.5539-22_5539-15del)
c.6157-22_6157-15del (n.6157-22_6157-15del)
c.4336-22_4336-15del (n.4336-22_4336-15del)
c.5557-22_5557-15del (n.5557-22_5557-15del)
c.4936-22_4936-15del (n.4936-22_4936-15del)
c.5656-22_5656-15del (n.5656-22_5656-15del)
c.6154-22_6154-15del (n.6154-22_6154-15del)
c.3751-22_3751-15del (n.3751-22_3751-15del)
dbSNP
2g.237361190C>ACA2581795759COL6A3c.5539-16G>T (n.5539-16G>T)
c.6157-16G>T (n.6157-16G>T)
c.4336-16G>T (n.4336-16G>T)
c.5557-16G>T (n.5557-16G>T)
c.4936-16G>T (n.4936-16G>T)
c.5656-16G>T (n.5656-16G>T)
c.6154-16G>T (n.6154-16G>T)
c.3751-16G>T (n.3751-16G>T)
2g.237361190C=CA1337618751COL6A3c.5539-16G= (n.5539-16G=)
c.6157-16G= (n.6157-16G=)
c.4336-16G= (n.4336-16G=)
c.5557-16G= (n.5557-16G=)
c.4936-16G= (n.4936-16G=)
c.5656-16G= (n.5656-16G=)
c.6154-16G= (n.6154-16G=)
c.3751-16G= (n.3751-16G=)
2g.237361190C>GCA2188430COL6A3c.5539-16G>C (n.5539-16G>C)
c.6157-16G>C (n.6157-16G>C)
c.4336-16G>C (n.4336-16G>C)
c.5557-16G>C (n.5557-16G>C)
c.4936-16G>C (n.4936-16G>C)
c.5656-16G>C (n.5656-16G>C)
c.6154-16G>C (n.6154-16G>C)
c.3751-16G>C (n.3751-16G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237361190C>TCA147989COL6A3c.5539-16G>A (n.5539-16G>A)
c.6157-16G>A (n.6157-16G>A)
c.4336-16G>A (n.4336-16G>A)
c.5557-16G>A (n.5557-16G>A)
c.4936-16G>A (n.4936-16G>A)
c.5656-16G>A (n.5656-16G>A)
c.6154-16G>A (n.6154-16G>A)
c.3751-16G>A (n.3751-16G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237361190_237361191insTCA2188431COL6A3c.5539-17_5539-16insA (n.5539-17_5539-16insA)
c.6157-17_6157-16insA (n.6157-17_6157-16insA)
c.4336-17_4336-16insA (n.4336-17_4336-16insA)
c.5557-17_5557-16insA (n.5557-17_5557-16insA)
c.4936-17_4936-16insA (n.4936-17_4936-16insA)
c.5656-17_5656-16insA (n.5656-17_5656-16insA)
c.6154-17_6154-16insA (n.6154-17_6154-16insA)
c.3751-17_3751-16insA (n.3751-17_3751-16insA)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.237361190_237361191insTGTTTAATCCCGCA1337618759COL6A3c.5539-17_5539-16insCGGGATTAAACA (n.5539-17_5539-16insCGGGATTAAACA)
c.6157-17_6157-16insCGGGATTAAACA (n.6157-17_6157-16insCGGGATTAAACA)
c.4336-17_4336-16insCGGGATTAAACA (n.4336-17_4336-16insCGGGATTAAACA)
c.5557-17_5557-16insCGGGATTAAACA (n.5557-17_5557-16insCGGGATTAAACA)
c.4936-17_4936-16insCGGGATTAAACA (n.4936-17_4936-16insCGGGATTAAACA)
c.5656-17_5656-16insCGGGATTAAACA (n.5656-17_5656-16insCGGGATTAAACA)
c.6154-17_6154-16insCGGGATTAAACA (n.6154-17_6154-16insCGGGATTAAACA)
c.3751-17_3751-16insCGGGATTAAACA (n.3751-17_3751-16insCGGGATTAAACA)
dbSNP
2g.237361191G>ACA2188432COL6A3c.5539-17C>T (n.5539-17C>T)
c.6157-17C>T (n.6157-17C>T)
c.4336-17C>T (n.4336-17C>T)
c.5557-17C>T (n.5557-17C>T)
c.4936-17C>T (n.4936-17C>T)
c.5656-17C>T (n.5656-17C>T)
c.6154-17C>T (n.6154-17C>T)
c.3751-17C>T (n.3751-17C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237361191G=CA1337618761COL6A3c.5539-17C= (n.5539-17C=)
c.6157-17C= (n.6157-17C=)
c.4336-17C= (n.4336-17C=)
c.5557-17C= (n.5557-17C=)
c.4936-17C= (n.4936-17C=)
c.5656-17C= (n.5656-17C=)
c.6154-17C= (n.6154-17C=)
c.3751-17C= (n.3751-17C=)
2g.237361191G>TCA1337618762COL6A3c.5539-17C>A (n.5539-17C>A)
c.6157-17C>A (n.6157-17C>A)
c.4336-17C>A (n.4336-17C>A)
c.5557-17C>A (n.5557-17C>A)
c.4936-17C>A (n.4936-17C>A)
c.5656-17C>A (n.5656-17C>A)
c.6154-17C>A (n.6154-17C>A)
c.3751-17C>A (n.3751-17C>A)
dbSNP
2g.237361191_237361192insTTTAATCCCGTCA2188433COL6A3c.5539-18_5539-17insACGGGATTAAA (n.5539-18_5539-17insACGGGATTAAA)
c.6157-18_6157-17insACGGGATTAAA (n.6157-18_6157-17insACGGGATTAAA)
c.4336-18_4336-17insACGGGATTAAA (n.4336-18_4336-17insACGGGATTAAA)
c.5557-18_5557-17insACGGGATTAAA (n.5557-18_5557-17insACGGGATTAAA)
c.4936-18_4936-17insACGGGATTAAA (n.4936-18_4936-17insACGGGATTAAA)
c.5656-18_5656-17insACGGGATTAAA (n.5656-18_5656-17insACGGGATTAAA)
c.6154-18_6154-17insACGGGATTAAA (n.6154-18_6154-17insACGGGATTAAA)
c.3751-18_3751-17insACGGGATTAAA (n.3751-18_3751-17insACGGGATTAAA)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.237361192G>ACA2577289871COL6A3c.5539-18C>T (n.5539-18C>T)
c.6157-18C>T (n.6157-18C>T)
c.4336-18C>T (n.4336-18C>T)
c.5557-18C>T (n.5557-18C>T)
c.4936-18C>T (n.4936-18C>T)
c.5656-18C>T (n.5656-18C>T)
c.6154-18C>T (n.6154-18C>T)
c.3751-18C>T (n.3751-18C>T)
2g.237361193G>ACA2663795532COL6A3c.5539-19C>T (n.5539-19C>T)
c.6157-19C>T (n.6157-19C>T)
c.4336-19C>T (n.4336-19C>T)
c.5557-19C>T (n.5557-19C>T)
c.4936-19C>T (n.4936-19C>T)
c.5656-19C>T (n.5656-19C>T)
c.6154-19C>T (n.6154-19C>T)
c.3751-19C>T (n.3751-19C>T)
gnomAD v4
2g.237361193G=CA1337618768COL6A3c.5539-19C= (n.5539-19C=)
c.6157-19C= (n.6157-19C=)
c.4336-19C= (n.4336-19C=)
c.5557-19C= (n.5557-19C=)
c.4936-19C= (n.4936-19C=)
c.5656-19C= (n.5656-19C=)
c.6154-19C= (n.6154-19C=)
c.3751-19C= (n.3751-19C=)
2g.237361193G>TCA540464268COL6A3c.5539-19C>A (n.5539-19C>A)
c.6157-19C>A (n.6157-19C>A)
c.4336-19C>A (n.4336-19C>A)
c.5557-19C>A (n.5557-19C>A)
c.4936-19C>A (n.4936-19C>A)
c.5656-19C>A (n.5656-19C>A)
c.6154-19C>A (n.6154-19C>A)
c.3751-19C>A (n.3751-19C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237361196C=CA1337618770COL6A3c.5539-22G= (n.5539-22G=)
c.6157-22G= (n.6157-22G=)
c.4336-22G= (n.4336-22G=)
c.5557-22G= (n.5557-22G=)
c.4936-22G= (n.4936-22G=)
c.5656-22G= (n.5656-22G=)
c.6154-22G= (n.6154-22G=)
c.3751-22G= (n.3751-22G=)
2g.237361196C>TCA2188434COL6A3c.5539-22G>A (n.5539-22G>A)
c.6157-22G>A (n.6157-22G>A)
c.4336-22G>A (n.4336-22G>A)
c.5557-22G>A (n.5557-22G>A)
c.4936-22G>A (n.4936-22G>A)
c.5656-22G>A (n.5656-22G>A)
c.6154-22G>A (n.6154-22G>A)
c.3751-22G>A (n.3751-22G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.237361198C=CA1337618772COL6A3c.5539-24G= (n.5539-24G=)
c.6157-24G= (n.6157-24G=)
c.4336-24G= (n.4336-24G=)
c.5557-24G= (n.5557-24G=)
c.4936-24G= (n.4936-24G=)
c.5656-24G= (n.5656-24G=)
c.6154-24G= (n.6154-24G=)
c.3751-24G= (n.3751-24G=)
2g.237361198C>GCA540464269COL6A3c.5539-24G>C (n.5539-24G>C)
c.6157-24G>C (n.6157-24G>C)
c.4336-24G>C (n.4336-24G>C)
c.5557-24G>C (n.5557-24G>C)
c.4936-24G>C (n.4936-24G>C)
c.5656-24G>C (n.5656-24G>C)
c.6154-24G>C (n.6154-24G>C)
c.3751-24G>C (n.3751-24G>C)
dbSNP gnomAD v2 gnomAD v4
2g.237361198C>TCA2663795542COL6A3c.5539-24G>A (n.5539-24G>A)
c.6157-24G>A (n.6157-24G>A)
c.4336-24G>A (n.4336-24G>A)
c.5557-24G>A (n.5557-24G>A)
c.4936-24G>A (n.4936-24G>A)
c.5656-24G>A (n.5656-24G>A)
c.6154-24G>A (n.6154-24G>A)
c.3751-24G>A (n.3751-24G>A)
gnomAD v4
2g.237361199T>CCA540464270COL6A3c.5539-25A>G (n.5539-25A>G)
c.6157-25A>G (n.6157-25A>G)
c.4336-25A>G (n.4336-25A>G)
c.5557-25A>G (n.5557-25A>G)
c.4936-25A>G (n.4936-25A>G)
c.5656-25A>G (n.5656-25A>G)
c.6154-25A>G (n.6154-25A>G)
c.3751-25A>G (n.3751-25A>G)
dbSNP gnomAD v2 gnomAD v4
2g.237361199T>GCA67855285COL6A3c.5539-25A>C (n.5539-25A>C)
c.6157-25A>C (n.6157-25A>C)
c.4336-25A>C (n.4336-25A>C)
c.5557-25A>C (n.5557-25A>C)
c.4936-25A>C (n.4936-25A>C)
c.5656-25A>C (n.5656-25A>C)
c.6154-25A>C (n.6154-25A>C)
c.3751-25A>C (n.3751-25A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237361199T=CA1337618775COL6A3c.5539-25A= (n.5539-25A=)
c.6157-25A= (n.6157-25A=)
c.4336-25A= (n.4336-25A=)
c.5557-25A= (n.5557-25A=)
c.4936-25A= (n.4936-25A=)
c.5656-25A= (n.5656-25A=)
c.6154-25A= (n.6154-25A=)
c.3751-25A= (n.3751-25A=)
2g.237361208C=CA1337618780COL6A3c.5539-34G= (n.5539-34G=)
c.6157-34G= (n.6157-34G=)
c.4336-34G= (n.4336-34G=)
c.5557-34G= (n.5557-34G=)
c.4936-34G= (n.4936-34G=)
c.5656-34G= (n.5656-34G=)
c.6154-34G= (n.6154-34G=)
c.3751-34G= (n.3751-34G=)
2g.237361208C>TCA2188435COL6A3c.5539-34G>A (n.5539-34G>A)
c.6157-34G>A (n.6157-34G>A)
c.4336-34G>A (n.4336-34G>A)
c.5557-34G>A (n.5557-34G>A)
c.4936-34G>A (n.4936-34G>A)
c.5656-34G>A (n.5656-34G>A)
c.6154-34G>A (n.6154-34G>A)
c.3751-34G>A (n.3751-34G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237361209C>ACA2577289872COL6A3c.5539-35G>T (n.5539-35G>T)
c.6157-35G>T (n.6157-35G>T)
c.4336-35G>T (n.4336-35G>T)
c.5557-35G>T (n.5557-35G>T)
c.4936-35G>T (n.4936-35G>T)
c.5656-35G>T (n.5656-35G>T)
c.6154-35G>T (n.6154-35G>T)
c.3751-35G>T (n.3751-35G>T)
2g.237361209C=CA1337618784COL6A3c.5539-35G= (n.5539-35G=)
c.6157-35G= (n.6157-35G=)
c.4336-35G= (n.4336-35G=)
c.5557-35G= (n.5557-35G=)
c.4936-35G= (n.4936-35G=)
c.5656-35G= (n.5656-35G=)
c.6154-35G= (n.6154-35G=)
c.3751-35G= (n.3751-35G=)
2g.237361209C>TCA540464271COL6A3c.5539-35G>A (n.5539-35G>A)
c.6157-35G>A (n.6157-35G>A)
c.4336-35G>A (n.4336-35G>A)
c.5557-35G>A (n.5557-35G>A)
c.4936-35G>A (n.4936-35G>A)
c.5656-35G>A (n.5656-35G>A)
c.6154-35G>A (n.6154-35G>A)
c.3751-35G>A (n.3751-35G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237361210G>ACA2188436COL6A3c.5539-36C>T (n.5539-36C>T)
c.6157-36C>T (n.6157-36C>T)
c.4336-36C>T (n.4336-36C>T)
c.5557-36C>T (n.5557-36C>T)
c.4936-36C>T (n.4936-36C>T)
c.5656-36C>T (n.5656-36C>T)
c.6154-36C>T (n.6154-36C>T)
c.3751-36C>T (n.3751-36C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237361210G=CA1337618786COL6A3c.5539-36C= (n.5539-36C=)
c.6157-36C= (n.6157-36C=)
c.4336-36C= (n.4336-36C=)
c.5557-36C= (n.5557-36C=)
c.4936-36C= (n.4936-36C=)
c.5656-36C= (n.5656-36C=)
c.6154-36C= (n.6154-36C=)
c.3751-36C= (n.3751-36C=)
2g.237361210G>TCA1043803933COL6A3c.5539-36C>A (n.5539-36C>A)
c.6157-36C>A (n.6157-36C>A)
c.4336-36C>A (n.4336-36C>A)
c.5557-36C>A (n.5557-36C>A)
c.4936-36C>A (n.4936-36C>A)
c.5656-36C>A (n.5656-36C>A)
c.6154-36C>A (n.6154-36C>A)
c.3751-36C>A (n.3751-36C>A)
dbSNP gnomAD v3 gnomAD v4
2g.237361211T>ACA2188437COL6A3c.5539-37A>T (n.5539-37A>T)
c.6157-37A>T (n.6157-37A>T)
c.4336-37A>T (n.4336-37A>T)
c.5557-37A>T (n.5557-37A>T)
c.4936-37A>T (n.4936-37A>T)
c.5656-37A>T (n.5656-37A>T)
c.6154-37A>T (n.6154-37A>T)
c.3751-37A>T (n.3751-37A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.237361211T>CCA1337618793COL6A3c.5539-37A>G (n.5539-37A>G)
c.6157-37A>G (n.6157-37A>G)
c.4336-37A>G (n.4336-37A>G)
c.5557-37A>G (n.5557-37A>G)
c.4936-37A>G (n.4936-37A>G)
c.5656-37A>G (n.5656-37A>G)
c.6154-37A>G (n.6154-37A>G)
c.3751-37A>G (n.3751-37A>G)
dbSNP gnomAD v4
2g.237361211T=CA1337618792COL6A3c.5539-37A= (n.5539-37A=)
c.6157-37A= (n.6157-37A=)
c.4336-37A= (n.4336-37A=)
c.5557-37A= (n.5557-37A=)
c.4936-37A= (n.4936-37A=)
c.5656-37A= (n.5656-37A=)
c.6154-37A= (n.6154-37A=)
c.3751-37A= (n.3751-37A=)
2g.237361212G>TCA2663795558COL6A3c.5539-38C>A (n.5539-38C>A)
c.6157-38C>A (n.6157-38C>A)
c.4336-38C>A (n.4336-38C>A)
c.5557-38C>A (n.5557-38C>A)
c.4936-38C>A (n.4936-38C>A)
c.5656-38C>A (n.5656-38C>A)
c.6154-38C>A (n.6154-38C>A)
c.3751-38C>A (n.3751-38C>A)
dbSNP gnomAD v4
2g.237361213G>ACA2188438COL6A3c.5539-39C>T (n.5539-39C>T)
c.6157-39C>T (n.6157-39C>T)
c.4336-39C>T (n.4336-39C>T)
c.5557-39C>T (n.5557-39C>T)
c.4936-39C>T (n.4936-39C>T)
c.5656-39C>T (n.5656-39C>T)
c.6154-39C>T (n.6154-39C>T)
c.3751-39C>T (n.3751-39C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.237361213G=CA1337618796COL6A3c.5539-39C= (n.5539-39C=)
c.6157-39C= (n.6157-39C=)
c.4336-39C= (n.4336-39C=)
c.5557-39C= (n.5557-39C=)
c.4936-39C= (n.4936-39C=)
c.5656-39C= (n.5656-39C=)
c.6154-39C= (n.6154-39C=)
c.3751-39C= (n.3751-39C=)
2g.237361213G>TCA2663795562COL6A3c.5539-39C>A (n.5539-39C>A)
c.6157-39C>A (n.6157-39C>A)
c.4336-39C>A (n.4336-39C>A)
c.5557-39C>A (n.5557-39C>A)
c.4936-39C>A (n.4936-39C>A)
c.5656-39C>A (n.5656-39C>A)
c.6154-39C>A (n.6154-39C>A)
c.3751-39C>A (n.3751-39C>A)
gnomAD v4
2g.237361214T>CCA766578298COL6A3c.5539-40A>G (n.5539-40A>G)
c.6157-40A>G (n.6157-40A>G)
c.4336-40A>G (n.4336-40A>G)
c.5557-40A>G (n.5557-40A>G)
c.4936-40A>G (n.4936-40A>G)
c.5656-40A>G (n.5656-40A>G)
c.6154-40A>G (n.6154-40A>G)
c.3751-40A>G (n.3751-40A>G)
dbSNP gnomAD v3 gnomAD v4
2g.237361214T=CA1337618799COL6A3c.5539-40A= (n.5539-40A=)
c.6157-40A= (n.6157-40A=)
c.4336-40A= (n.4336-40A=)
c.5557-40A= (n.5557-40A=)
c.4936-40A= (n.4936-40A=)
c.5656-40A= (n.5656-40A=)
c.6154-40A= (n.6154-40A=)
c.3751-40A= (n.3751-40A=)
2g.237361215C>ACA2577289873COL6A3c.5539-41G>T (n.5539-41G>T)
c.6157-41G>T (n.6157-41G>T)
c.4336-41G>T (n.4336-41G>T)
c.5557-41G>T (n.5557-41G>T)
c.4936-41G>T (n.4936-41G>T)
c.5656-41G>T (n.5656-41G>T)
c.6154-41G>T (n.6154-41G>T)
c.3751-41G>T (n.3751-41G>T)
gnomAD v4
2g.237361215C=CA1337618802COL6A3c.5539-41G= (n.5539-41G=)
c.6157-41G= (n.6157-41G=)
c.4336-41G= (n.4336-41G=)
c.5557-41G= (n.5557-41G=)
c.4936-41G= (n.4936-41G=)
c.5656-41G= (n.5656-41G=)
c.6154-41G= (n.6154-41G=)
c.3751-41G= (n.3751-41G=)
2g.237361215C>TCA67855298COL6A3c.5539-41G>A (n.5539-41G>A)
c.6157-41G>A (n.6157-41G>A)
c.4336-41G>A (n.4336-41G>A)
c.5557-41G>A (n.5557-41G>A)
c.4936-41G>A (n.4936-41G>A)
c.5656-41G>A (n.5656-41G>A)
c.6154-41G>A (n.6154-41G>A)
c.3751-41G>A (n.3751-41G>A)
dbSNP gnomAD v4
2g.237361216T>CCA2577289874COL6A3c.5539-42A>G (n.5539-42A>G)
c.6157-42A>G (n.6157-42A>G)
c.4336-42A>G (n.4336-42A>G)
c.5557-42A>G (n.5557-42A>G)
c.4936-42A>G (n.4936-42A>G)
c.5656-42A>G (n.5656-42A>G)
c.6154-42A>G (n.6154-42A>G)
c.3751-42A>G (n.3751-42A>G)
2g.237361218C>ACA2663795566COL6A3c.5539-44G>T (n.5539-44G>T)
c.6157-44G>T (n.6157-44G>T)
c.4336-44G>T (n.4336-44G>T)
c.5557-44G>T (n.5557-44G>T)
c.4936-44G>T (n.4936-44G>T)
c.5656-44G>T (n.5656-44G>T)
c.6154-44G>T (n.6154-44G>T)
c.3751-44G>T (n.3751-44G>T)
gnomAD v4
2g.237361221T>GCA540464272COL6A3c.5539-47A>C (n.5539-47A>C)
c.6157-47A>C (n.6157-47A>C)
c.4336-47A>C (n.4336-47A>C)
c.5557-47A>C (n.5557-47A>C)
c.4936-47A>C (n.4936-47A>C)
c.5656-47A>C (n.5656-47A>C)
c.6154-47A>C (n.6154-47A>C)
c.3751-47A>C (n.3751-47A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237361221T=CA1337618804COL6A3c.5539-47A= (n.5539-47A=)
c.6157-47A= (n.6157-47A=)
c.4336-47A= (n.4336-47A=)
c.5557-47A= (n.5557-47A=)
c.4936-47A= (n.4936-47A=)
c.5656-47A= (n.5656-47A=)
c.6154-47A= (n.6154-47A=)
c.3751-47A= (n.3751-47A=)
2g.237361222G>TCA2577289875COL6A3c.5539-48C>A (n.5539-48C>A)
c.6157-48C>A (n.6157-48C>A)
c.4336-48C>A (n.4336-48C>A)
c.5557-48C>A (n.5557-48C>A)
c.4936-48C>A (n.4936-48C>A)
c.5656-48C>A (n.5656-48C>A)
c.6154-48C>A (n.6154-48C>A)
c.3751-48C>A (n.3751-48C>A)
gnomAD v4
2g.237361223C=CA1337618806COL6A3c.5539-49G= (n.5539-49G=)
c.6157-49G= (n.6157-49G=)
c.4336-49G= (n.4336-49G=)
c.5557-49G= (n.5557-49G=)
c.4936-49G= (n.4936-49G=)
c.5656-49G= (n.5656-49G=)
c.6154-49G= (n.6154-49G=)
c.3751-49G= (n.3751-49G=)
2g.237361223C>TCA2188439COL6A3c.5539-49G>A (n.5539-49G>A)
c.6157-49G>A (n.6157-49G>A)
c.4336-49G>A (n.4336-49G>A)
c.5557-49G>A (n.5557-49G>A)
c.4936-49G>A (n.4936-49G>A)
c.5656-49G>A (n.5656-49G>A)
c.6154-49G>A (n.6154-49G>A)
c.3751-49G>A (n.3751-49G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237361224T>CCA2577289876COL6A3c.5539-50A>G (n.5539-50A>G)
c.6157-50A>G (n.6157-50A>G)
c.4336-50A>G (n.4336-50A>G)
c.5557-50A>G (n.5557-50A>G)
c.4936-50A>G (n.4936-50A>G)
c.5656-50A>G (n.5656-50A>G)
c.6154-50A>G (n.6154-50A>G)
c.3751-50A>G (n.3751-50A>G)
gnomAD v4
2g.237361224T>GCA2545840189COL6A3c.5539-50A>C (n.5539-50A>C)
c.6157-50A>C (n.6157-50A>C)
c.4336-50A>C (n.4336-50A>C)
c.5557-50A>C (n.5557-50A>C)
c.4936-50A>C (n.4936-50A>C)
c.5656-50A>C (n.5656-50A>C)
c.6154-50A>C (n.6154-50A>C)
c.3751-50A>C (n.3751-50A>C)
gnomAD v4
2g.237361225C>ACA2663795574COL6A3c.5539-51G>T (n.5539-51G>T)
c.6157-51G>T (n.6157-51G>T)
c.4336-51G>T (n.4336-51G>T)
c.5557-51G>T (n.5557-51G>T)
c.4936-51G>T (n.4936-51G>T)
c.5656-51G>T (n.5656-51G>T)
c.6154-51G>T (n.6154-51G>T)
c.3751-51G>T (n.3751-51G>T)
gnomAD v4
2g.237361225C>TCA2663795575COL6A3c.5539-51G>A (n.5539-51G>A)
c.6157-51G>A (n.6157-51G>A)
c.4336-51G>A (n.4336-51G>A)
c.5557-51G>A (n.5557-51G>A)
c.4936-51G>A (n.4936-51G>A)
c.5656-51G>A (n.5656-51G>A)
c.6154-51G>A (n.6154-51G>A)
c.3751-51G>A (n.3751-51G>A)
gnomAD v4
2g.237361226T>CCA2188440COL6A3c.5539-52A>G (n.5539-52A>G)
c.6157-52A>G (n.6157-52A>G)
c.4336-52A>G (n.4336-52A>G)
c.5557-52A>G (n.5557-52A>G)
c.4936-52A>G (n.4936-52A>G)
c.5656-52A>G (n.5656-52A>G)
c.6154-52A>G (n.6154-52A>G)
c.3751-52A>G (n.3751-52A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237361226T>GCA2663795576COL6A3c.5539-52A>C (n.5539-52A>C)
c.6157-52A>C (n.6157-52A>C)
c.4336-52A>C (n.4336-52A>C)
c.5557-52A>C (n.5557-52A>C)
c.4936-52A>C (n.4936-52A>C)
c.5656-52A>C (n.5656-52A>C)
c.6154-52A>C (n.6154-52A>C)
c.3751-52A>C (n.3751-52A>C)
gnomAD v4
2g.237361226T=CA1337618809COL6A3c.5539-52A= (n.5539-52A=)
c.6157-52A= (n.6157-52A=)
c.4336-52A= (n.4336-52A=)
c.5557-52A= (n.5557-52A=)
c.4936-52A= (n.4936-52A=)
c.5656-52A= (n.5656-52A=)
c.6154-52A= (n.6154-52A=)
c.3751-52A= (n.3751-52A=)
2g.237361226_237361228delinsCAGCA67855332COL6A3c.5539-54_5539-52delinsCTG (n.5539-54_5539-52delinsCTG)
c.6157-54_6157-52delinsCTG (n.6157-54_6157-52delinsCTG)
c.4336-54_4336-52delinsCTG (n.4336-54_4336-52delinsCTG)
c.5557-54_5557-52delinsCTG (n.5557-54_5557-52delinsCTG)
c.4936-54_4936-52delinsCTG (n.4936-54_4936-52delinsCTG)
c.5656-54_5656-52delinsCTG (n.5656-54_5656-52delinsCTG)
c.6154-54_6154-52delinsCTG (n.6154-54_6154-52delinsCTG)
c.3751-54_3751-52delinsCTG (n.3751-54_3751-52delinsCTG)
dbSNP
2g.237361226_237361228delinsTACCA1337618812COL6A3c.5539-54_5539-52delinsGTA (n.5539-54_5539-52delinsGTA)
c.6157-54_6157-52delinsGTA (n.6157-54_6157-52delinsGTA)
c.4336-54_4336-52delinsGTA (n.4336-54_4336-52delinsGTA)
c.5557-54_5557-52delinsGTA (n.5557-54_5557-52delinsGTA)
c.4936-54_4936-52delinsGTA (n.4936-54_4936-52delinsGTA)
c.5656-54_5656-52delinsGTA (n.5656-54_5656-52delinsGTA)
c.6154-54_6154-52delinsGTA (n.6154-54_6154-52delinsGTA)
c.3751-54_3751-52delinsGTA (n.3751-54_3751-52delinsGTA)
2g.237361227A=CA1337618814COL6A3c.5539-53T= (n.5539-53T=)
c.6157-53T= (n.6157-53T=)
c.4336-53T= (n.4336-53T=)
c.5557-53T= (n.5557-53T=)
c.4936-53T= (n.4936-53T=)
c.5656-53T= (n.5656-53T=)
c.6154-53T= (n.6154-53T=)
c.3751-53T= (n.3751-53T=)
2g.237361227A>GCA540464273COL6A3c.5539-53T>C (n.5539-53T>C)
c.6157-53T>C (n.6157-53T>C)
c.4336-53T>C (n.4336-53T>C)
c.5557-53T>C (n.5557-53T>C)
c.4936-53T>C (n.4936-53T>C)
c.5656-53T>C (n.5656-53T>C)
c.6154-53T>C (n.6154-53T>C)
c.3751-53T>C (n.3751-53T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237361227A>TCA2663795579COL6A3c.5539-53T>A (n.5539-53T>A)
c.6157-53T>A (n.6157-53T>A)
c.4336-53T>A (n.4336-53T>A)
c.5557-53T>A (n.5557-53T>A)
c.4936-53T>A (n.4936-53T>A)
c.5656-53T>A (n.5656-53T>A)
c.6154-53T>A (n.6154-53T>A)
c.3751-53T>A (n.3751-53T>A)
gnomAD v4
2g.237361228C>ACA2581795761COL6A3c.5539-54G>T (n.5539-54G>T)
c.6157-54G>T (n.6157-54G>T)
c.4336-54G>T (n.4336-54G>T)
c.5557-54G>T (n.5557-54G>T)
c.4936-54G>T (n.4936-54G>T)
c.5656-54G>T (n.5656-54G>T)
c.6154-54G>T (n.6154-54G>T)
c.3751-54G>T (n.3751-54G>T)
2g.237361228C=CA1337618819COL6A3c.5539-54G= (n.5539-54G=)
c.6157-54G= (n.6157-54G=)
c.4336-54G= (n.4336-54G=)
c.5557-54G= (n.5557-54G=)
c.4936-54G= (n.4936-54G=)
c.5656-54G= (n.5656-54G=)
c.6154-54G= (n.6154-54G=)
c.3751-54G= (n.3751-54G=)
2g.237361228C>GCA11175402COL6A3c.5539-54G>C (n.5539-54G>C)
c.6157-54G>C (n.6157-54G>C)
c.4336-54G>C (n.4336-54G>C)
c.5557-54G>C (n.5557-54G>C)
c.4936-54G>C (n.4936-54G>C)
c.5656-54G>C (n.5656-54G>C)
c.6154-54G>C (n.6154-54G>C)
c.3751-54G>C (n.3751-54G>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237361228C>TCA2581795760COL6A3c.5539-54G>A (n.5539-54G>A)
c.6157-54G>A (n.6157-54G>A)
c.4336-54G>A (n.4336-54G>A)
c.5557-54G>A (n.5557-54G>A)
c.4936-54G>A (n.4936-54G>A)
c.5656-54G>A (n.5656-54G>A)
c.6154-54G>A (n.6154-54G>A)
c.3751-54G>A (n.3751-54G>A)
gnomAD v4
2g.237361229A=CA1337618823COL6A3c.5539-55T= (n.5539-55T=)
c.6157-55T= (n.6157-55T=)
c.4336-55T= (n.4336-55T=)
c.5557-55T= (n.5557-55T=)
c.4936-55T= (n.4936-55T=)
c.5656-55T= (n.5656-55T=)
c.6154-55T= (n.6154-55T=)
c.3751-55T= (n.3751-55T=)
2g.237361229A>GCA1337618824COL6A3c.5539-55T>C (n.5539-55T>C)
c.6157-55T>C (n.6157-55T>C)
c.4336-55T>C (n.4336-55T>C)
c.5557-55T>C (n.5557-55T>C)
c.4936-55T>C (n.4936-55T>C)
c.5656-55T>C (n.5656-55T>C)
c.6154-55T>C (n.6154-55T>C)
c.3751-55T>C (n.3751-55T>C)
dbSNP gnomAD v4
2g.237361230G>ACA67855335COL6A3c.5539-56C>T (n.5539-56C>T)
c.6157-56C>T (n.6157-56C>T)
c.4336-56C>T (n.4336-56C>T)
c.5557-56C>T (n.5557-56C>T)
c.4936-56C>T (n.4936-56C>T)
c.5656-56C>T (n.5656-56C>T)
c.6154-56C>T (n.6154-56C>T)
c.3751-56C>T (n.3751-56C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237361230G=CA1337618826COL6A3c.5539-56C= (n.5539-56C=)
c.6157-56C= (n.6157-56C=)
c.4336-56C= (n.4336-56C=)
c.5557-56C= (n.5557-56C=)
c.4936-56C= (n.4936-56C=)
c.5656-56C= (n.5656-56C=)
c.6154-56C= (n.6154-56C=)
c.3751-56C= (n.3751-56C=)
2g.237361230G>TCA2577289878COL6A3c.5539-56C>A (n.5539-56C>A)
c.6157-56C>A (n.6157-56C>A)
c.4336-56C>A (n.4336-56C>A)
c.5557-56C>A (n.5557-56C>A)
c.4936-56C>A (n.4936-56C>A)
c.5656-56C>A (n.5656-56C>A)
c.6154-56C>A (n.6154-56C>A)
c.3751-56C>A (n.3751-56C>A)
gnomAD v4
2g.237361231T>CCA2754787403COL6A3c.5539-57A>G (n.5539-57A>G)
c.6157-57A>G (n.6157-57A>G)
c.4336-57A>G (n.4336-57A>G)
c.5557-57A>G (n.5557-57A>G)
c.4936-57A>G (n.4936-57A>G)
c.5656-57A>G (n.5656-57A>G)
c.6154-57A>G (n.6154-57A>G)
c.3751-57A>G (n.3751-57A>G)
2g.237361231T>GCA2663795591COL6A3c.5539-57A>C (n.5539-57A>C)
c.6157-57A>C (n.6157-57A>C)
c.4336-57A>C (n.4336-57A>C)
c.5557-57A>C (n.5557-57A>C)
c.4936-57A>C (n.4936-57A>C)
c.5656-57A>C (n.5656-57A>C)
c.6154-57A>C (n.6154-57A>C)
c.3751-57A>C (n.3751-57A>C)
gnomAD v4
2g.237361234G>ACA2663795592COL6A3c.5539-60C>T (n.5539-60C>T)
c.6157-60C>T (n.6157-60C>T)
c.4336-60C>T (n.4336-60C>T)
c.5557-60C>T (n.5557-60C>T)
c.4936-60C>T (n.4936-60C>T)
c.5656-60C>T (n.5656-60C>T)
c.6154-60C>T (n.6154-60C>T)
c.3751-60C>T (n.3751-60C>T)
gnomAD v4
2g.237361236A>CCA2663795594COL6A3c.5539-62T>G (n.5539-62T>G)
c.6157-62T>G (n.6157-62T>G)
c.4336-62T>G (n.4336-62T>G)
c.5557-62T>G (n.5557-62T>G)
c.4936-62T>G (n.4936-62T>G)
c.5656-62T>G (n.5656-62T>G)
c.6154-62T>G (n.6154-62T>G)
c.3751-62T>G (n.3751-62T>G)
gnomAD v4

Number of alleles fetched