Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237361137C>A | CA351217413 | COL6A3 | c.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) | |
2 | g.237361137C= | CA1337618622 | COL6A3 | c.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=) | |
2 | g.237361137C>G | CA351217414 | COL6A3 | c.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) | |
2 | g.237361137C>T | CA295335 | COL6A3 | c.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 |
2 | g.237361138C>A | CA351217416 | COL6A3 | c.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) | |
2 | g.237361138C= | CA1337618630 | COL6A3 | c.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=) | |
2 | g.237361138C>G | CA10604911 | COL6A3 | c.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 |
2 | g.237361138C>T | CA215987 | COL6A3 | c.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 |
2 | g.237361139A= | CA1337618636 | COL6A3 | c.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=) | |
2 | g.237361139A>C | CA431678505 | COL6A3 | c.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=) | |
2 | g.237361139A>G | CA67855151 | COL6A3 | c.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 |
2 | g.237361139A>T | CA431678506 | COL6A3 | c.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=) | |
2 | g.237361140G>A | CA351217427 | COL6A3 | c.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) | |
2 | g.237361140G>C | CA351217424 | COL6A3 | c.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) | |
2 | g.237361140G>T | CA351217426 | COL6A3 | c.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) | |
2 | g.237361141G>A | CA2188422 | COL6A3 | c.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 |
2 | g.237361141G>C | CA351217430 | COL6A3 | c.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 |
2 | g.237361141G= | CA1337618638 | COL6A3 | c.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=) | |
2 | g.237361141G>T | CA351217432 | COL6A3 | c.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) | |
2 | g.237361142A>C | CA351217434 | COL6A3 | c.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) | |
2 | g.237361142A>G | CA431678507 | COL6A3 | c.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=) | |
2 | g.237361142A>T | CA351217436 | COL6A3 | c.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) | |
2 | g.237361143T>A | CA351217438 | COL6A3 | c.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) | |
2 | g.237361143T>C | CA351217439 | COL6A3 | c.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 |
2 | g.237361143T>G | CA351217440 | COL6A3 | c.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) | |
2 | g.237361144A>C | CA351217441 | COL6A3 | c.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) | |
2 | g.237361144A>G | CA351217442 | COL6A3 | c.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) | |
2 | g.237361144A>T | CA351217443 | COL6A3 | c.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) | |
2 | g.237361145G>A | CA431678510 | COL6A3 | c.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 |
2 | g.237361145G>C | CA431678508 | COL6A3 | c.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=) | |
2 | g.237361145G>T | CA431678509 | COL6A3 | c.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=) | |
2 | g.237361146C>A | CA351217444 | COL6A3 | c.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) | |
2 | g.237361146C>G | CA351217449 | COL6A3 | c.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) | |
2 | g.237361146C>T | CA351217448 | COL6A3 | c.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 |
2 | g.237361147C>A | CA351217450 | COL6A3 | c.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) | |
2 | g.237361147C>G | CA351217451 | COL6A3 | c.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) | |
2 | g.237361147C>T | CA351217452 | COL6A3 | c.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) | |
2 | g.237361148T>A | CA431678511 | COL6A3 | c.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=) | |
2 | g.237361148T>C | CA431678512 | COL6A3 | c.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=) | |
2 | g.237361148T>G | CA431678513 | COL6A3 | c.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=) | |
2 | g.237361149C>A | CA351217454 | COL6A3 | c.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) | |
2 | g.237361149C= | CA1337618643 | COL6A3 | c.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=) | |
2 | g.237361149C>G | CA351217458 | COL6A3 | c.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) | |
2 | g.237361149C>T | CA2188423 | COL6A3 | c.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 |
2 | g.237361150G>A | CA205930 | COL6A3 | c.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 |
2 | g.237361150G>C | CA351217468 | COL6A3 | c.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) | |
2 | g.237361150G= | CA1337618651 | COL6A3 | c.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=) | |
2 | g.237361150G>T | CA431678514 | COL6A3 | c.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=) | |
2 | g.237361151G>A | CA2188424 | COL6A3 | c.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 |
2 | g.237361151G>C | CA351217472 | COL6A3 | c.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) | |
2 | g.237361151G= | CA1337618656 | COL6A3 | c.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=) | |
2 | g.237361151G>T | CA351217473 | COL6A3 | c.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) | |
2 | g.237361152T>A | CA351217480 | COL6A3 | c.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) | |
2 | g.237361152T>C | CA351217479 | COL6A3 | c.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) | |
2 | g.237361152T>G | CA351217478 | COL6A3 | c.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) | |
2 | g.237361153A>C | CA351217496 | COL6A3 | c.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) | |
2 | g.237361153A>G | CA351217482 | COL6A3 | c.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 |
2 | g.237361153A>T | CA351217489 | COL6A3 | c.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) | |
2 | g.237361154_237361183del | CA2573129725 | COL6A3 | c.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 | |
2 | g.237361154G>A | CA431678515 | COL6A3 | c.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=) | |
2 | g.237361154G>C | CA431678517 | COL6A3 | c.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=) | |
2 | g.237361154G>T | CA431678516 | COL6A3 | c.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 |
2 | g.237361155C>A | CA351217497 | COL6A3 | c.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) | |
2 | g.237361155C>G | CA351217498 | COL6A3 | c.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) | |
2 | g.237361155C>T | CA351217499 | COL6A3 | c.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) | |
2 | g.237361156C>A | CA10604870 | COL6A3 | c.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 |
2 | g.237361156C= | CA1337618665 | COL6A3 | c.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=) | |
2 | g.237361156C>G | CA351217501 | COL6A3 | c.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) | |
2 | g.237361156C>T | CA2188425 | COL6A3 | c.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 |
2 | g.237361157G>A | CA2188426 | COL6A3 | c.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 |
2 | g.237361157G>C | CA351217504 | COL6A3 | c.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) | |
2 | g.237361157G= | CA1337618675 | COL6A3 | c.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=) | |
2 | g.237361157G>T | CA351217505 | COL6A3 | c.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) | |
2 | g.237361158T>A | CA351217507 | COL6A3 | c.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) | |
2 | g.237361158T>C | CA351217508 | COL6A3 | c.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) | |
2 | g.237361158T>G | CA351217509 | COL6A3 | c.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) | |
2 | g.237361159C>A | CA351217513 | COL6A3 | c.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) | |
2 | g.237361159C>G | CA351217517 | COL6A3 | c.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) | |
2 | g.237361159C>T | CA351217515 | COL6A3 | c.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) | |
2 | g.237361160T>A | CA351217518 | COL6A3 | c.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) | |
2 | g.237361160T>C | CA431678518 | COL6A3 | c.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=) | |
2 | g.237361160T>G | CA351217519 | COL6A3 | c.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) | |
2 | g.237361161T>A | CA351217520 | COL6A3 | c.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) | |
2 | g.237361161T>C | CA351217522 | COL6A3 | c.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 |
2 | g.237361161T>G | CA351217523 | COL6A3 | c.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) | |
2 | g.237361161T= | CA1337618682 | COL6A3 | c.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=) | |
2 | g.237361162C>A | CA351217524 | COL6A3 | c.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) | |
2 | g.237361162C>G | CA351217525 | COL6A3 | c.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) | |
2 | g.237361162C>T | CA351217526 | COL6A3 | c.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 |
2 | g.237361163T>A | CA431678519 | COL6A3 | c.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=) | |
2 | g.237361163T>C | CA431678520 | COL6A3 | c.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 |
2 | g.237361163T>G | CA431678521 | COL6A3 | c.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 |
2 | g.237361163T= | CA1337618685 | COL6A3 | c.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=) | |
2 | g.237361164C>A | CA351217528 | COL6A3 | c.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) | |
2 | g.237361164C= | CA1337618689 | COL6A3 | c.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=) | |
2 | g.237361164C>G | CA351217529 | COL6A3 | c.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) | |
2 | g.237361164C>T | CA16617501 | COL6A3 | c.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 |
2 | g.237361165C>A | CA351217538 | COL6A3 | c.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) | |
2 | g.237361165C>G | CA351217540 | COL6A3 | c.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) | |
2 | g.237361165C>T | CA351217536 | COL6A3 | c.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) | |
2 | g.237361166A= | CA1337618692 | COL6A3 | c.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=) | |
2 | g.237361166A>C | CA431678522 | COL6A3 | c.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=) | |
2 | g.237361166A>G | CA431678523 | COL6A3 | c.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=) | |
2 | g.237361166A>T | CA2188427 | COL6A3 | c.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 |
2 | g.237361167G>A | CA351217553 | COL6A3 | c.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) | |
2 | g.237361167G>C | CA351217550 | COL6A3 | c.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) | |
2 | g.237361167G>T | CA351217552 | COL6A3 | c.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) | |
2 | g.237361168G>A | CA351217556 | COL6A3 | c.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) | |
2 | g.237361168G>C | CA351217558 | COL6A3 | c.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) | |
2 | g.237361168G>T | CA351217561 | COL6A3 | c.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) | |
2 | g.237361169A= | CA1337618696 | COL6A3 | c.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=) | |
2 | g.237361169A>C | CA351217563 | COL6A3 | c.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) | |
2 | g.237361169A>G | CA431678524 | COL6A3 | c.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=) | |
2 | g.237361169A>T | CA2188428 | COL6A3 | c.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 |
2 | g.237361170A>C | CA351217566 | COL6A3 | c.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) | |
2 | g.237361170A>G | CA351217568 | COL6A3 | c.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 |
2 | g.237361170A>T | CA351217570 | COL6A3 | c.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) | |
2 | g.237361171T>A | CA351217572 | COL6A3 | c.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) | |
2 | g.237361171T>C | CA351217573 | COL6A3 | c.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) | |
2 | g.237361171T>G | CA351217574 | COL6A3 | c.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) | |
2 | g.237361172A= | CA1337618701 | COL6A3 | c.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=) | |
2 | g.237361172A>C | CA431678525 | COL6A3 | c.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=) | |
2 | g.237361172A>G | CA431678526 | COL6A3 | c.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 |
2 | g.237361172A>T | CA431678527 | COL6A3 | c.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=) | |
2 | g.237361173C>A | CA10602841 | COL6A3 | c.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 |
2 | g.237361173C= | CA1337618709 | COL6A3 | c.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=) | |
2 | g.237361173C>G | CA351217576 | COL6A3 | c.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) | |
2 | g.237361173C>T | CA351217575 | COL6A3 | c.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 |
2 | g.237361174C>A | CA351217578 | COL6A3 | c.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 |
2 | g.237361174C= | CA1337618719 | COL6A3 | c.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=) | |
2 | g.237361174C>G | CA351217582 | COL6A3 | c.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 |
2 | g.237361174C>T | CA351217585 | COL6A3 | c.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) | |
2 | g.237361175C>A | CA351217586 | COL6A3 | c.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) | |
2 | g.237361175C>G | CA351217588 | COL6A3 | c.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) | |
2 | g.237361175C>T | CA351217590 | COL6A3 | c.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 |
2 | g.237361176T>A | CA351217592 | COL6A3 | c.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) | |
2 | g.237361176T>C | CA351217593 | COL6A3 | c.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) | |
2 | g.237361176T>G | CA10602842 | COL6A3 | c.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 |
2 | g.237361176T= | CA1337618723 | COL6A3 | c.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=) | |
2 | g.237361177G>A | CA2577289869 | COL6A3 | c.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) | |
2 | g.237361177G>T | CA2663795494 | COL6A3 | c.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 |
2 | g.237361178A= | CA1337618728 | COL6A3 | c.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=) | |
2 | g.237361178A>C | CA233828 | COL6A3 | c.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 |
2 | g.237361183A>G | CA2701837956 | COL6A3 | c.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 |
2 | g.237361184A>T | CA2663795504 | COL6A3 | c.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 |
2 | g.237361186T>C | CA2188429 | COL6A3 | c.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 |
2 | g.237361186T= | CA1337618733 | COL6A3 | c.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=) | |
2 | g.237361187A= | CA1337618735 | COL6A3 | c.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=) | |
2 | g.237361187A>C | CA2577289870 | COL6A3 | c.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 |
2 | g.237361187A>G | CA2663795512 | COL6A3 | c.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 |
2 | g.237361187A>T | CA540464261 | COL6A3 | c.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 |
2 | g.237361188A= | CA1337618738 | COL6A3 | c.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=) | |
2 | g.237361188A>G | CA766578276 | COL6A3 | c.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 |
2 | g.237361188_237361196delinsATCGGGTCC | CA1337618739 | COL6A3 | c.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) | |
2 | g.237361191_237361198del | CA1337618742 | COL6A3 | c.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 |
2 | g.237361190C>A | CA2581795759 | COL6A3 | c.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) | |
2 | g.237361190C= | CA1337618751 | COL6A3 | c.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=) | |
2 | g.237361190C>G | CA2188430 | COL6A3 | c.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 |
2 | g.237361190C>T | CA147989 | COL6A3 | c.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 |
2 | g.237361190_237361191insT | CA2188431 | COL6A3 | c.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 |
2 | g.237361190_237361191insTGTTTAATCCCG | CA1337618759 | COL6A3 | c.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 |
2 | g.237361191G>A | CA2188432 | COL6A3 | c.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 |
2 | g.237361191G= | CA1337618761 | COL6A3 | c.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=) | |
2 | g.237361191G>T | CA1337618762 | COL6A3 | c.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 |
2 | g.237361191_237361192insTTTAATCCCGT | CA2188433 | COL6A3 | c.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 |
2 | g.237361192G>A | CA2577289871 | COL6A3 | c.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) | |
2 | g.237361193G>A | CA2663795532 | COL6A3 | c.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 |
2 | g.237361193G= | CA1337618768 | COL6A3 | c.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=) | |
2 | g.237361193G>T | CA540464268 | COL6A3 | c.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 |
2 | g.237361196C= | CA1337618770 | COL6A3 | c.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=) | |
2 | g.237361196C>T | CA2188434 | COL6A3 | c.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 |
2 | g.237361198C= | CA1337618772 | COL6A3 | c.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=) | |
2 | g.237361198C>G | CA540464269 | COL6A3 | c.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 |
2 | g.237361198C>T | CA2663795542 | COL6A3 | c.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 |
2 | g.237361199T>C | CA540464270 | COL6A3 | c.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 |
2 | g.237361199T>G | CA67855285 | COL6A3 | c.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 |
2 | g.237361199T= | CA1337618775 | COL6A3 | c.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=) | |
2 | g.237361208C= | CA1337618780 | COL6A3 | c.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=) | |
2 | g.237361208C>T | CA2188435 | COL6A3 | c.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 |
2 | g.237361209C>A | CA2577289872 | COL6A3 | c.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) | |
2 | g.237361209C= | CA1337618784 | COL6A3 | c.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=) | |
2 | g.237361209C>T | CA540464271 | COL6A3 | c.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 |
2 | g.237361210G>A | CA2188436 | COL6A3 | c.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 |
2 | g.237361210G= | CA1337618786 | COL6A3 | c.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=) | |
2 | g.237361210G>T | CA1043803933 | COL6A3 | c.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 |
2 | g.237361211T>A | CA2188437 | COL6A3 | c.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 |
2 | g.237361211T>C | CA1337618793 | COL6A3 | c.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 |
2 | g.237361211T= | CA1337618792 | COL6A3 | c.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=) | |
2 | g.237361212G>T | CA2663795558 | COL6A3 | c.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 |
2 | g.237361213G>A | CA2188438 | COL6A3 | c.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 |
2 | g.237361213G= | CA1337618796 | COL6A3 | c.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=) | |
2 | g.237361213G>T | CA2663795562 | COL6A3 | c.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 |
2 | g.237361214T>C | CA766578298 | COL6A3 | c.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 |
2 | g.237361214T= | CA1337618799 | COL6A3 | c.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=) | |
2 | g.237361215C>A | CA2577289873 | COL6A3 | c.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 |
2 | g.237361215C= | CA1337618802 | COL6A3 | c.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=) | |
2 | g.237361215C>T | CA67855298 | COL6A3 | c.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 |
2 | g.237361216T>C | CA2577289874 | COL6A3 | c.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) | |
2 | g.237361218C>A | CA2663795566 | COL6A3 | c.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 |
2 | g.237361221T>G | CA540464272 | COL6A3 | c.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 |
2 | g.237361221T= | CA1337618804 | COL6A3 | c.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=) | |
2 | g.237361222G>T | CA2577289875 | COL6A3 | c.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 |
2 | g.237361223C= | CA1337618806 | COL6A3 | c.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=) | |
2 | g.237361223C>T | CA2188439 | COL6A3 | c.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 |
2 | g.237361224T>C | CA2577289876 | COL6A3 | c.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 |
2 | g.237361224T>G | CA2545840189 | COL6A3 | c.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 |
2 | g.237361225C>A | CA2663795574 | COL6A3 | c.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 |
2 | g.237361225C>T | CA2663795575 | COL6A3 | c.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 |
2 | g.237361226T>C | CA2188440 | COL6A3 | c.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 |
2 | g.237361226T>G | CA2663795576 | COL6A3 | c.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 |
2 | g.237361226T= | CA1337618809 | COL6A3 | c.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=) | |
2 | g.237361226_237361228delinsCAG | CA67855332 | COL6A3 | c.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 |
2 | g.237361226_237361228delinsTAC | CA1337618812 | COL6A3 | c.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) | |
2 | g.237361227A= | CA1337618814 | COL6A3 | c.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=) | |
2 | g.237361227A>G | CA540464273 | COL6A3 | c.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 |
2 | g.237361227A>T | CA2663795579 | COL6A3 | c.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 |
2 | g.237361228C>A | CA2581795761 | COL6A3 | c.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) | |
2 | g.237361228C= | CA1337618819 | COL6A3 | c.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=) | |
2 | g.237361228C>G | CA11175402 | COL6A3 | c.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 |
2 | g.237361228C>T | CA2581795760 | COL6A3 | c.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 |
2 | g.237361229A= | CA1337618823 | COL6A3 | c.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=) | |
2 | g.237361229A>G | CA1337618824 | COL6A3 | c.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 |
2 | g.237361230G>A | CA67855335 | COL6A3 | c.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 |
2 | g.237361230G= | CA1337618826 | COL6A3 | c.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=) | |
2 | g.237361230G>T | CA2577289878 | COL6A3 | c.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 |
2 | g.237361231T>C | CA2754787403 | COL6A3 | c.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) | |
2 | g.237361231T>G | CA2663795591 | COL6A3 | c.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 |
2 | g.237361234G>A | CA2663795592 | COL6A3 | c.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 |
2 | g.237361236A>C | CA2663795594 | COL6A3 | c.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 |