Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237367028T>ACA351188308COL6A3c.4541A>T (p.Lys1514Met)
c.5159A>T (p.Lys1720Met)
c.3338A>T (p.Lys1113Met)
c.4559A>T (p.Lys1520Met)
c.3938A>T (p.Lys1313Met)
c.4658A>T (p.Lys1553Met)
c.5156A>T (p.Lys1719Met)
c.2753A>T (p.Lys918Met)
2g.237367028T>CCA351188310COL6A3c.4541A>G (p.Lys1514Arg)
c.5159A>G (p.Lys1720Arg)
c.3338A>G (p.Lys1113Arg)
c.4559A>G (p.Lys1520Arg)
c.3938A>G (p.Lys1313Arg)
c.4658A>G (p.Lys1553Arg)
c.5156A>G (p.Lys1719Arg)
c.2753A>G (p.Lys918Arg)
 ClinVar dbSNP gnomAD v4
2g.237367028T>GCA351188314COL6A3c.4541A>C (p.Lys1514Thr)
c.5159A>C (p.Lys1720Thr)
c.3338A>C (p.Lys1113Thr)
c.4559A>C (p.Lys1520Thr)
c.3938A>C (p.Lys1313Thr)
c.4658A>C (p.Lys1553Thr)
c.5156A>C (p.Lys1719Thr)
c.2753A>C (p.Lys918Thr)
2g.237367028T=CA1337621009COL6A3c.4541A= (p.Lys1514=)
c.5159A= (p.Lys1720=)
c.3338A= (p.Lys1113=)
c.4559A= (p.Lys1520=)
c.3938A= (p.Lys1313=)
c.4658A= (p.Lys1553=)
c.5156A= (p.Lys1719=)
c.2753A= (p.Lys918=)
2g.237367029T>ACA351188317COL6A3c.4540A>T (p.Lys1514Ter)
c.5158A>T (p.Lys1720Ter)
c.3337A>T (p.Lys1113Ter)
c.4558A>T (p.Lys1520Ter)
c.3937A>T (p.Lys1313Ter)
c.4657A>T (p.Lys1553Ter)
c.5155A>T (p.Lys1719Ter)
c.2752A>T (p.Lys918Ter)
2g.237367029T>CCA351188319COL6A3c.4540A>G (p.Lys1514Glu)
c.5158A>G (p.Lys1720Glu)
c.3337A>G (p.Lys1113Glu)
c.4558A>G (p.Lys1520Glu)
c.3937A>G (p.Lys1313Glu)
c.4657A>G (p.Lys1553Glu)
c.5155A>G (p.Lys1719Glu)
c.2752A>G (p.Lys918Glu)
2g.237367029T>GCA2188729COL6A3c.4540A>C (p.Lys1514Gln)
c.5158A>C (p.Lys1720Gln)
c.3337A>C (p.Lys1113Gln)
c.4558A>C (p.Lys1520Gln)
c.3937A>C (p.Lys1313Gln)
c.4657A>C (p.Lys1553Gln)
c.5155A>C (p.Lys1719Gln)
c.2752A>C (p.Lys918Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237367029T=CA1337621010COL6A3c.4540A= (p.Lys1514=)
c.5158A= (p.Lys1720=)
c.3337A= (p.Lys1113=)
c.4558A= (p.Lys1520=)
c.3937A= (p.Lys1313=)
c.4657A= (p.Lys1553=)
c.5155A= (p.Lys1719=)
c.2752A= (p.Lys918=)
2g.237367030A>CCA431710814COL6A3c.4539T>G (p.Thr1513=)
c.5157T>G (p.Thr1719=)
c.3336T>G (p.Thr1112=)
c.4557T>G (p.Thr1519=)
c.3936T>G (p.Thr1312=)
c.4656T>G (p.Thr1552=)
c.5154T>G (p.Thr1718=)
c.2751T>G (p.Thr917=)
2g.237367030A>GCA431710815COL6A3c.4539T>C (p.Thr1513=)
c.5157T>C (p.Thr1719=)
c.3336T>C (p.Thr1112=)
c.4557T>C (p.Thr1519=)
c.3936T>C (p.Thr1312=)
c.4656T>C (p.Thr1552=)
c.5154T>C (p.Thr1718=)
c.2751T>C (p.Thr917=)
2g.237367030A>TCA431710816COL6A3c.4539T>A (p.Thr1513=)
c.5157T>A (p.Thr1719=)
c.3336T>A (p.Thr1112=)
c.4557T>A (p.Thr1519=)
c.3936T>A (p.Thr1312=)
c.4656T>A (p.Thr1552=)
c.5154T>A (p.Thr1718=)
c.2751T>A (p.Thr917=)
2g.237367031G>ACA2188730COL6A3c.4538C>T (p.Thr1513Ile)
c.5156C>T (p.Thr1719Ile)
c.3335C>T (p.Thr1112Ile)
c.4556C>T (p.Thr1519Ile)
c.3935C>T (p.Thr1312Ile)
c.4655C>T (p.Thr1552Ile)
c.5153C>T (p.Thr1718Ile)
c.2750C>T (p.Thr917Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367031G>CCA351188322COL6A3c.4538C>G (p.Thr1513Ser)
c.5156C>G (p.Thr1719Ser)
c.3335C>G (p.Thr1112Ser)
c.4556C>G (p.Thr1519Ser)
c.3935C>G (p.Thr1312Ser)
c.4655C>G (p.Thr1552Ser)
c.5153C>G (p.Thr1718Ser)
c.2750C>G (p.Thr917Ser)
2g.237367031G=CA1337621011COL6A3c.4538C= (p.Thr1513=)
c.5156C= (p.Thr1719=)
c.3335C= (p.Thr1112=)
c.4556C= (p.Thr1519=)
c.3935C= (p.Thr1312=)
c.4655C= (p.Thr1552=)
c.5153C= (p.Thr1718=)
c.2750C= (p.Thr917=)
2g.237367031G>TCA351188324COL6A3c.4538C>A (p.Thr1513Asn)
c.5156C>A (p.Thr1719Asn)
c.3335C>A (p.Thr1112Asn)
c.4556C>A (p.Thr1519Asn)
c.3935C>A (p.Thr1312Asn)
c.4655C>A (p.Thr1552Asn)
c.5153C>A (p.Thr1718Asn)
c.2750C>A (p.Thr917Asn)
2g.237367032T>ACA351188331COL6A3c.4537A>T (p.Thr1513Ser)
c.5155A>T (p.Thr1719Ser)
c.3334A>T (p.Thr1112Ser)
c.4555A>T (p.Thr1519Ser)
c.3934A>T (p.Thr1312Ser)
c.4654A>T (p.Thr1552Ser)
c.5152A>T (p.Thr1718Ser)
c.2749A>T (p.Thr917Ser)
 dbSNP gnomAD v2
2g.237367032T>CCA351188333COL6A3c.4537A>G (p.Thr1513Ala)
c.5155A>G (p.Thr1719Ala)
c.3334A>G (p.Thr1112Ala)
c.4555A>G (p.Thr1519Ala)
c.3934A>G (p.Thr1312Ala)
c.4654A>G (p.Thr1552Ala)
c.5152A>G (p.Thr1718Ala)
c.2749A>G (p.Thr917Ala)
2g.237367032T>GCA351188327COL6A3c.4537A>C (p.Thr1513Pro)
c.5155A>C (p.Thr1719Pro)
c.3334A>C (p.Thr1112Pro)
c.4555A>C (p.Thr1519Pro)
c.3934A>C (p.Thr1312Pro)
c.4654A>C (p.Thr1552Pro)
c.5152A>C (p.Thr1718Pro)
c.2749A>C (p.Thr917Pro)
2g.237367032T=CA1337621012COL6A3c.4537A= (p.Thr1513=)
c.5155A= (p.Thr1719=)
c.3334A= (p.Thr1112=)
c.4555A= (p.Thr1519=)
c.3934A= (p.Thr1312=)
c.4654A= (p.Thr1552=)
c.5152A= (p.Thr1718=)
c.2749A= (p.Thr917=)
2g.237367033G>ACA431710819COL6A3c.4536C>T (p.Asn1512=)
c.5154C>T (p.Asn1718=)
c.3333C>T (p.Asn1111=)
c.4554C>T (p.Asn1518=)
c.3933C>T (p.Asn1311=)
c.4653C>T (p.Asn1551=)
c.5151C>T (p.Asn1717=)
c.2748C>T (p.Asn916=)
2g.237367033G>CCA351188338COL6A3c.4536C>G (p.Asn1512Lys)
c.5154C>G (p.Asn1718Lys)
c.3333C>G (p.Asn1111Lys)
c.4554C>G (p.Asn1518Lys)
c.3933C>G (p.Asn1311Lys)
c.4653C>G (p.Asn1551Lys)
c.5151C>G (p.Asn1717Lys)
c.2748C>G (p.Asn916Lys)
2g.237367033G>TCA351188342COL6A3c.4536C>A (p.Asn1512Lys)
c.5154C>A (p.Asn1718Lys)
c.3333C>A (p.Asn1111Lys)
c.4554C>A (p.Asn1518Lys)
c.3933C>A (p.Asn1311Lys)
c.4653C>A (p.Asn1551Lys)
c.5151C>A (p.Asn1717Lys)
c.2748C>A (p.Asn916Lys)
2g.237367034T>ACA351188350COL6A3c.4535A>T (p.Asn1512Ile)
c.5153A>T (p.Asn1718Ile)
c.3332A>T (p.Asn1111Ile)
c.4553A>T (p.Asn1518Ile)
c.3932A>T (p.Asn1311Ile)
c.4652A>T (p.Asn1551Ile)
c.5150A>T (p.Asn1717Ile)
c.2747A>T (p.Asn916Ile)
2g.237367034T>CCA351188353COL6A3c.4535A>G (p.Asn1512Ser)
c.5153A>G (p.Asn1718Ser)
c.3332A>G (p.Asn1111Ser)
c.4553A>G (p.Asn1518Ser)
c.3932A>G (p.Asn1311Ser)
c.4652A>G (p.Asn1551Ser)
c.5150A>G (p.Asn1717Ser)
c.2747A>G (p.Asn916Ser)
 dbSNP gnomAD v4
2g.237367034T>GCA351188356COL6A3c.4535A>C (p.Asn1512Thr)
c.5153A>C (p.Asn1718Thr)
c.3332A>C (p.Asn1111Thr)
c.4553A>C (p.Asn1518Thr)
c.3932A>C (p.Asn1311Thr)
c.4652A>C (p.Asn1551Thr)
c.5150A>C (p.Asn1717Thr)
c.2747A>C (p.Asn916Thr)
2g.237367034T=CA1337621013COL6A3c.4535A= (p.Asn1512=)
c.5153A= (p.Asn1718=)
c.3332A= (p.Asn1111=)
c.4553A= (p.Asn1518=)
c.3932A= (p.Asn1311=)
c.4652A= (p.Asn1551=)
c.5150A= (p.Asn1717=)
c.2747A= (p.Asn916=)
2g.237367035T>ACA351188370COL6A3c.4534A>T (p.Asn1512Tyr)
c.5152A>T (p.Asn1718Tyr)
c.3331A>T (p.Asn1111Tyr)
c.4552A>T (p.Asn1518Tyr)
c.3931A>T (p.Asn1311Tyr)
c.4651A>T (p.Asn1551Tyr)
c.5149A>T (p.Asn1717Tyr)
c.2746A>T (p.Asn916Tyr)
2g.237367035T>CCA351188367COL6A3c.4534A>G (p.Asn1512Asp)
c.5152A>G (p.Asn1718Asp)
c.3331A>G (p.Asn1111Asp)
c.4552A>G (p.Asn1518Asp)
c.3931A>G (p.Asn1311Asp)
c.4651A>G (p.Asn1551Asp)
c.5149A>G (p.Asn1717Asp)
c.2746A>G (p.Asn916Asp)
2g.237367035T>GCA351188364COL6A3c.4534A>C (p.Asn1512His)
c.5152A>C (p.Asn1718His)
c.3331A>C (p.Asn1111His)
c.4552A>C (p.Asn1518His)
c.3931A>C (p.Asn1311His)
c.4651A>C (p.Asn1551His)
c.5149A>C (p.Asn1717His)
c.2746A>C (p.Asn916His)
2g.237367036G>ACA431710826COL6A3c.4533C>T (p.Ala1511=)
c.5151C>T (p.Ala1717=)
c.3330C>T (p.Ala1110=)
c.4551C>T (p.Ala1517=)
c.3930C>T (p.Ala1310=)
c.4650C>T (p.Ala1550=)
c.5148C>T (p.Ala1716=)
c.2745C>T (p.Ala915=)
 gnomAD v4
2g.237367036G>CCA431710829COL6A3c.4533C>G (p.Ala1511=)
c.5151C>G (p.Ala1717=)
c.3330C>G (p.Ala1110=)
c.4551C>G (p.Ala1517=)
c.3930C>G (p.Ala1310=)
c.4650C>G (p.Ala1550=)
c.5148C>G (p.Ala1716=)
c.2745C>G (p.Ala915=)
2g.237367036G>TCA431710828COL6A3c.4533C>A (p.Ala1511=)
c.5151C>A (p.Ala1717=)
c.3330C>A (p.Ala1110=)
c.4551C>A (p.Ala1517=)
c.3930C>A (p.Ala1310=)
c.4650C>A (p.Ala1550=)
c.5148C>A (p.Ala1716=)
c.2745C>A (p.Ala915=)
2g.237367037G>ACA351188374COL6A3c.4532C>T (p.Ala1511Val)
c.5150C>T (p.Ala1717Val)
c.3329C>T (p.Ala1110Val)
c.4550C>T (p.Ala1517Val)
c.3929C>T (p.Ala1310Val)
c.4649C>T (p.Ala1550Val)
c.5147C>T (p.Ala1716Val)
c.2744C>T (p.Ala915Val)
 gnomAD v4
2g.237367037G>CCA351188401COL6A3c.4532C>G (p.Ala1511Gly)
c.5150C>G (p.Ala1717Gly)
c.3329C>G (p.Ala1110Gly)
c.4550C>G (p.Ala1517Gly)
c.3929C>G (p.Ala1310Gly)
c.4649C>G (p.Ala1550Gly)
c.5147C>G (p.Ala1716Gly)
c.2744C>G (p.Ala915Gly)
2g.237367037G>TCA351188404COL6A3c.4532C>A (p.Ala1511Asp)
c.5150C>A (p.Ala1717Asp)
c.3329C>A (p.Ala1110Asp)
c.4550C>A (p.Ala1517Asp)
c.3929C>A (p.Ala1310Asp)
c.4649C>A (p.Ala1550Asp)
c.5147C>A (p.Ala1716Asp)
c.2744C>A (p.Ala915Asp)
2g.237367038C>ACA351188407COL6A3c.4531G>T (p.Ala1511Ser)
c.5149G>T (p.Ala1717Ser)
c.3328G>T (p.Ala1110Ser)
c.4549G>T (p.Ala1517Ser)
c.3928G>T (p.Ala1310Ser)
c.4648G>T (p.Ala1550Ser)
c.5146G>T (p.Ala1716Ser)
c.2743G>T (p.Ala915Ser)
 gnomAD v4
2g.237367038C=CA1337621014COL6A3c.4531G= (p.Ala1511=)
c.5149G= (p.Ala1717=)
c.3328G= (p.Ala1110=)
c.4549G= (p.Ala1517=)
c.3928G= (p.Ala1310=)
c.4648G= (p.Ala1550=)
c.5146G= (p.Ala1716=)
c.2743G= (p.Ala915=)
2g.237367038C>GCA2188732COL6A3c.4531G>C (p.Ala1511Pro)
c.5149G>C (p.Ala1717Pro)
c.3328G>C (p.Ala1110Pro)
c.4549G>C (p.Ala1517Pro)
c.3928G>C (p.Ala1310Pro)
c.4648G>C (p.Ala1550Pro)
c.5146G>C (p.Ala1716Pro)
c.2743G>C (p.Ala915Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367038C>TCA2188731COL6A3c.4531G>A (p.Ala1511Thr)
c.5149G>A (p.Ala1717Thr)
c.3328G>A (p.Ala1110Thr)
c.4549G>A (p.Ala1517Thr)
c.3928G>A (p.Ala1310Thr)
c.4648G>A (p.Ala1550Thr)
c.5146G>A (p.Ala1716Thr)
c.2743G>A (p.Ala915Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237367039G>ACA2188733COL6A3c.4530C>T (p.His1510=)
c.5148C>T (p.His1716=)
c.3327C>T (p.His1109=)
c.4548C>T (p.His1516=)
c.3927C>T (p.His1309=)
c.4647C>T (p.His1549=)
c.5145C>T (p.His1715=)
c.2742C>T (p.His914=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237367039G>CCA2188734COL6A3c.4530C>G (p.His1510Gln)
c.5148C>G (p.His1716Gln)
c.3327C>G (p.His1109Gln)
c.4548C>G (p.His1516Gln)
c.3927C>G (p.His1309Gln)
c.4647C>G (p.His1549Gln)
c.5145C>G (p.His1715Gln)
c.2742C>G (p.His914Gln)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.237367039G=CA1337621015COL6A3c.4530C= (p.His1510=)
c.5148C= (p.His1716=)
c.3327C= (p.His1109=)
c.4548C= (p.His1516=)
c.3927C= (p.His1309=)
c.4647C= (p.His1549=)
c.5145C= (p.His1715=)
c.2742C= (p.His914=)
2g.237367039G>TCA351188414COL6A3c.4530C>A (p.His1510Gln)
c.5148C>A (p.His1716Gln)
c.3327C>A (p.His1109Gln)
c.4548C>A (p.His1516Gln)
c.3927C>A (p.His1309Gln)
c.4647C>A (p.His1549Gln)
c.5145C>A (p.His1715Gln)
c.2742C>A (p.His914Gln)
2g.237367040T>ACA351188419COL6A3c.4529A>T (p.His1510Leu)
c.5147A>T (p.His1716Leu)
c.3326A>T (p.His1109Leu)
c.4547A>T (p.His1516Leu)
c.3926A>T (p.His1309Leu)
c.4646A>T (p.His1549Leu)
c.5144A>T (p.His1715Leu)
c.2741A>T (p.His914Leu)
2g.237367040T>CCA351188421COL6A3c.4529A>G (p.His1510Arg)
c.5147A>G (p.His1716Arg)
c.3326A>G (p.His1109Arg)
c.4547A>G (p.His1516Arg)
c.3926A>G (p.His1309Arg)
c.4646A>G (p.His1549Arg)
c.5144A>G (p.His1715Arg)
c.2741A>G (p.His914Arg)
2g.237367040T>GCA351188422COL6A3c.4529A>C (p.His1510Pro)
c.5147A>C (p.His1716Pro)
c.3326A>C (p.His1109Pro)
c.4547A>C (p.His1516Pro)
c.3926A>C (p.His1309Pro)
c.4646A>C (p.His1549Pro)
c.5144A>C (p.His1715Pro)
c.2741A>C (p.His914Pro)
2g.237367041G>ACA351188423COL6A3c.4528C>T (p.His1510Tyr)
c.5146C>T (p.His1716Tyr)
c.3325C>T (p.His1109Tyr)
c.4546C>T (p.His1516Tyr)
c.3925C>T (p.His1309Tyr)
c.4645C>T (p.His1549Tyr)
c.5143C>T (p.His1715Tyr)
c.2740C>T (p.His914Tyr)
 ClinVar
2g.237367041G>CCA351188424COL6A3c.4528C>G (p.His1510Asp)
c.5146C>G (p.His1716Asp)
c.3325C>G (p.His1109Asp)
c.4546C>G (p.His1516Asp)
c.3925C>G (p.His1309Asp)
c.4645C>G (p.His1549Asp)
c.5143C>G (p.His1715Asp)
c.2740C>G (p.His914Asp)
2g.237367041G>TCA351188427COL6A3c.4528C>A (p.His1510Asn)
c.5146C>A (p.His1716Asn)
c.3325C>A (p.His1109Asn)
c.4546C>A (p.His1516Asn)
c.3925C>A (p.His1309Asn)
c.4645C>A (p.His1549Asn)
c.5143C>A (p.His1715Asn)
c.2740C>A (p.His914Asn)
2g.237367042T>ACA351188429COL6A3c.4527A>T (p.Arg1509Ser)
c.5145A>T (p.Arg1715Ser)
c.3324A>T (p.Arg1108Ser)
c.4545A>T (p.Arg1515Ser)
c.3924A>T (p.Arg1308Ser)
c.4644A>T (p.Arg1548Ser)
c.5142A>T (p.Arg1714Ser)
c.2739A>T (p.Arg913Ser)
2g.237367042T>CCA431710839COL6A3c.4527A>G (p.Arg1509=)
c.5145A>G (p.Arg1715=)
c.3324A>G (p.Arg1108=)
c.4545A>G (p.Arg1515=)
c.3924A>G (p.Arg1308=)
c.4644A>G (p.Arg1548=)
c.5142A>G (p.Arg1714=)
c.2739A>G (p.Arg913=)
 dbSNP gnomAD v4
2g.237367042T>GCA351188438COL6A3c.4527A>C (p.Arg1509Ser)
c.5145A>C (p.Arg1715Ser)
c.3324A>C (p.Arg1108Ser)
c.4545A>C (p.Arg1515Ser)
c.3924A>C (p.Arg1308Ser)
c.4644A>C (p.Arg1548Ser)
c.5142A>C (p.Arg1714Ser)
c.2739A>C (p.Arg913Ser)
2g.237367042T=CA1337621016COL6A3c.4527A= (p.Arg1509=)
c.5145A= (p.Arg1715=)
c.3324A= (p.Arg1108=)
c.4545A= (p.Arg1515=)
c.3924A= (p.Arg1308=)
c.4644A= (p.Arg1548=)
c.5142A= (p.Arg1714=)
c.2739A= (p.Arg913=)
2g.237367043C>ACA351188442COL6A3c.4526G>T (p.Arg1509Ile)
c.5144G>T (p.Arg1715Ile)
c.3323G>T (p.Arg1108Ile)
c.4544G>T (p.Arg1515Ile)
c.3923G>T (p.Arg1308Ile)
c.4643G>T (p.Arg1548Ile)
c.5141G>T (p.Arg1714Ile)
c.2738G>T (p.Arg913Ile)
2g.237367043C>GCA351188443COL6A3c.4526G>C (p.Arg1509Thr)
c.5144G>C (p.Arg1715Thr)
c.3323G>C (p.Arg1108Thr)
c.4544G>C (p.Arg1515Thr)
c.3923G>C (p.Arg1308Thr)
c.4643G>C (p.Arg1548Thr)
c.5141G>C (p.Arg1714Thr)
c.2738G>C (p.Arg913Thr)
2g.237367043C>TCA351188445COL6A3c.4526G>A (p.Arg1509Lys)
c.5144G>A (p.Arg1715Lys)
c.3323G>A (p.Arg1108Lys)
c.4544G>A (p.Arg1515Lys)
c.3923G>A (p.Arg1308Lys)
c.4643G>A (p.Arg1548Lys)
c.5141G>A (p.Arg1714Lys)
c.2738G>A (p.Arg913Lys)
2g.237367044T>ACA351188448COL6A3c.4525A>T (p.Arg1509Ter)
c.5143A>T (p.Arg1715Ter)
c.3322A>T (p.Arg1108Ter)
c.4543A>T (p.Arg1515Ter)
c.3922A>T (p.Arg1308Ter)
c.4642A>T (p.Arg1548Ter)
c.5140A>T (p.Arg1714Ter)
c.2737A>T (p.Arg913Ter)
2g.237367044T>CCA351188449COL6A3c.4525A>G (p.Arg1509Gly)
c.5143A>G (p.Arg1715Gly)
c.3322A>G (p.Arg1108Gly)
c.4543A>G (p.Arg1515Gly)
c.3922A>G (p.Arg1308Gly)
c.4642A>G (p.Arg1548Gly)
c.5140A>G (p.Arg1714Gly)
c.2737A>G (p.Arg913Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237367044T>GCA431710844COL6A3c.4525A>C (p.Arg1509=)
c.5143A>C (p.Arg1715=)
c.3322A>C (p.Arg1108=)
c.4543A>C (p.Arg1515=)
c.3922A>C (p.Arg1308=)
c.4642A>C (p.Arg1548=)
c.5140A>C (p.Arg1714=)
c.2737A>C (p.Arg913=)
2g.237367044T=CA1337621017COL6A3c.4525A= (p.Arg1509=)
c.5143A= (p.Arg1715=)
c.3322A= (p.Arg1108=)
c.4543A= (p.Arg1515=)
c.3922A= (p.Arg1308=)
c.4642A= (p.Arg1548=)
c.5140A= (p.Arg1714=)
c.2737A= (p.Arg913=)
2g.237367045T>ACA431710847COL6A3c.4524A>T (p.Gly1508=)
c.5142A>T (p.Gly1714=)
c.3321A>T (p.Gly1107=)
c.4542A>T (p.Gly1514=)
c.3921A>T (p.Gly1307=)
c.4641A>T (p.Gly1547=)
c.5139A>T (p.Gly1713=)
c.2736A>T (p.Gly912=)
2g.237367045T>CCA431710848COL6A3c.4524A>G (p.Gly1508=)
c.5142A>G (p.Gly1714=)
c.3321A>G (p.Gly1107=)
c.4542A>G (p.Gly1514=)
c.3921A>G (p.Gly1307=)
c.4641A>G (p.Gly1547=)
c.5139A>G (p.Gly1713=)
c.2736A>G (p.Gly912=)
2g.237367045T>GCA431710849COL6A3c.4524A>C (p.Gly1508=)
c.5142A>C (p.Gly1714=)
c.3321A>C (p.Gly1107=)
c.4542A>C (p.Gly1514=)
c.3921A>C (p.Gly1307=)
c.4641A>C (p.Gly1547=)
c.5139A>C (p.Gly1713=)
c.2736A>C (p.Gly912=)
2g.237367046C>ACA351188452COL6A3c.4523G>T (p.Gly1508Val)
c.5141G>T (p.Gly1714Val)
c.3320G>T (p.Gly1107Val)
c.4541G>T (p.Gly1514Val)
c.3920G>T (p.Gly1307Val)
c.4640G>T (p.Gly1547Val)
c.5138G>T (p.Gly1713Val)
c.2735G>T (p.Gly912Val)
2g.237367046C=CA1337621018COL6A3c.4523G= (p.Gly1508=)
c.5141G= (p.Gly1714=)
c.3320G= (p.Gly1107=)
c.4541G= (p.Gly1514=)
c.3920G= (p.Gly1307=)
c.4640G= (p.Gly1547=)
c.5138G= (p.Gly1713=)
c.2735G= (p.Gly912=)
2g.237367046C>GCA351188457COL6A3c.4523G>C (p.Gly1508Ala)
c.5141G>C (p.Gly1714Ala)
c.3320G>C (p.Gly1107Ala)
c.4541G>C (p.Gly1514Ala)
c.3920G>C (p.Gly1307Ala)
c.4640G>C (p.Gly1547Ala)
c.5138G>C (p.Gly1713Ala)
c.2735G>C (p.Gly912Ala)
2g.237367046C>TCA351188455COL6A3c.4523G>A (p.Gly1508Glu)
c.5141G>A (p.Gly1714Glu)
c.3320G>A (p.Gly1107Glu)
c.4541G>A (p.Gly1514Glu)
c.3920G>A (p.Gly1307Glu)
c.4640G>A (p.Gly1547Glu)
c.5138G>A (p.Gly1713Glu)
c.2735G>A (p.Gly912Glu)
 dbSNP gnomAD v4
2g.237367050dupCA2754787069COL6A3c.4523dup (p.Arg1509LysfsTer6)
c.5141dup (p.Arg1715LysfsTer6)
c.3320dup (p.Arg1108LysfsTer6)
c.4541dup (p.Arg1515LysfsTer6)
c.3920dup (p.Arg1308LysfsTer6)
c.4640dup (p.Arg1548LysfsTer6)
c.5138dup (p.Arg1714LysfsTer6)
c.2735dup (p.Arg913LysfsTer6)
2g.237367047C>ACA351188469COL6A3c.4522G>T (p.Gly1508Ter)
c.5140G>T (p.Gly1714Ter)
c.3319G>T (p.Gly1107Ter)
c.4540G>T (p.Gly1514Ter)
c.3919G>T (p.Gly1307Ter)
c.4639G>T (p.Gly1547Ter)
c.5137G>T (p.Gly1713Ter)
c.2734G>T (p.Gly912Ter)
2g.237367047C>GCA351188477COL6A3c.4522G>C (p.Gly1508Arg)
c.5140G>C (p.Gly1714Arg)
c.3319G>C (p.Gly1107Arg)
c.4540G>C (p.Gly1514Arg)
c.3919G>C (p.Gly1307Arg)
c.4639G>C (p.Gly1547Arg)
c.5137G>C (p.Gly1713Arg)
c.2734G>C (p.Gly912Arg)
2g.237367047C>TCA351188472COL6A3c.4522G>A (p.Gly1508Arg)
c.5140G>A (p.Gly1714Arg)
c.3319G>A (p.Gly1107Arg)
c.4540G>A (p.Gly1514Arg)
c.3919G>A (p.Gly1307Arg)
c.4639G>A (p.Gly1547Arg)
c.5137G>A (p.Gly1713Arg)
c.2734G>A (p.Gly912Arg)
2g.237367048C>ACA431710854COL6A3c.4521G>T (p.Gly1507=)
c.5139G>T (p.Gly1713=)
c.3318G>T (p.Gly1106=)
c.4539G>T (p.Gly1513=)
c.3918G>T (p.Gly1306=)
c.4638G>T (p.Gly1546=)
c.5136G>T (p.Gly1712=)
c.2733G>T (p.Gly911=)
2g.237367048C=CA1337621019COL6A3c.4521G= (p.Gly1507=)
c.5139G= (p.Gly1713=)
c.3318G= (p.Gly1106=)
c.4539G= (p.Gly1513=)
c.3918G= (p.Gly1306=)
c.4638G= (p.Gly1546=)
c.5136G= (p.Gly1712=)
c.2733G= (p.Gly911=)
2g.237367048C>GCA431710855COL6A3c.4521G>C (p.Gly1507=)
c.5139G>C (p.Gly1713=)
c.3318G>C (p.Gly1106=)
c.4539G>C (p.Gly1513=)
c.3918G>C (p.Gly1306=)
c.4638G>C (p.Gly1546=)
c.5136G>C (p.Gly1712=)
c.2733G>C (p.Gly911=)
2g.237367048C>TCA2188735COL6A3c.4521G>A (p.Gly1507=)
c.5139G>A (p.Gly1713=)
c.3318G>A (p.Gly1106=)
c.4539G>A (p.Gly1513=)
c.3918G>A (p.Gly1306=)
c.4638G>A (p.Gly1546=)
c.5136G>A (p.Gly1712=)
c.2733G>A (p.Gly911=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367049C>ACA351188484COL6A3c.4520G>T (p.Gly1507Val)
c.5138G>T (p.Gly1713Val)
c.3317G>T (p.Gly1106Val)
c.4538G>T (p.Gly1513Val)
c.3917G>T (p.Gly1306Val)
c.4637G>T (p.Gly1546Val)
c.5135G>T (p.Gly1712Val)
c.2732G>T (p.Gly911Val)
 dbSNP gnomAD v4
2g.237367049C=CA1337621020COL6A3c.4520G= (p.Gly1507=)
c.5138G= (p.Gly1713=)
c.3317G= (p.Gly1106=)
c.4538G= (p.Gly1513=)
c.3917G= (p.Gly1306=)
c.4637G= (p.Gly1546=)
c.5135G= (p.Gly1712=)
c.2732G= (p.Gly911=)
2g.237367049C>GCA351188486COL6A3c.4520G>C (p.Gly1507Ala)
c.5138G>C (p.Gly1713Ala)
c.3317G>C (p.Gly1106Ala)
c.4538G>C (p.Gly1513Ala)
c.3917G>C (p.Gly1306Ala)
c.4637G>C (p.Gly1546Ala)
c.5135G>C (p.Gly1712Ala)
c.2732G>C (p.Gly911Ala)
2g.237367049C>TCA2188736COL6A3c.4520G>A (p.Gly1507Glu)
c.5138G>A (p.Gly1713Glu)
c.3317G>A (p.Gly1106Glu)
c.4538G>A (p.Gly1513Glu)
c.3917G>A (p.Gly1306Glu)
c.4637G>A (p.Gly1546Glu)
c.5135G>A (p.Gly1712Glu)
c.2732G>A (p.Gly911Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237367050C>ACA351188492COL6A3c.4519G>T (p.Gly1507Trp)
c.5137G>T (p.Gly1713Trp)
c.3316G>T (p.Gly1106Trp)
c.4537G>T (p.Gly1513Trp)
c.3916G>T (p.Gly1306Trp)
c.4636G>T (p.Gly1546Trp)
c.5134G>T (p.Gly1712Trp)
c.2731G>T (p.Gly911Trp)
2g.237367050C>GCA351188494COL6A3c.4519G>C (p.Gly1507Arg)
c.5137G>C (p.Gly1713Arg)
c.3316G>C (p.Gly1106Arg)
c.4537G>C (p.Gly1513Arg)
c.3916G>C (p.Gly1306Arg)
c.4636G>C (p.Gly1546Arg)
c.5134G>C (p.Gly1712Arg)
c.2731G>C (p.Gly911Arg)
2g.237367050C>TCA351188497COL6A3c.4519G>A (p.Gly1507Arg)
c.5137G>A (p.Gly1713Arg)
c.3316G>A (p.Gly1106Arg)
c.4537G>A (p.Gly1513Arg)
c.3916G>A (p.Gly1306Arg)
c.4636G>A (p.Gly1546Arg)
c.5134G>A (p.Gly1712Arg)
c.2731G>A (p.Gly911Arg)
 ClinVar COSMIC
2g.237367056_237367067delCA2586965624COL6A3c.4508_4519del (p.Val1503_Lys1506del)
c.5126_5137del (p.Val1709_Lys1712del)
c.3305_3316del (p.Val1102_Lys1105del)
c.4526_4537del (p.Val1509_Lys1512del)
c.3905_3916del (p.Val1302_Lys1305del)
c.4625_4636del (p.Val1542_Lys1545del)
c.5123_5134del (p.Val1708_Lys1711del)
c.2720_2731del (p.Val907_Lys910del)
2g.237367051T>ACA351188499COL6A3c.4518A>T (p.Lys1506Asn)
c.5136A>T (p.Lys1712Asn)
c.3315A>T (p.Lys1105Asn)
c.4536A>T (p.Lys1512Asn)
c.3915A>T (p.Lys1305Asn)
c.4635A>T (p.Lys1545Asn)
c.5133A>T (p.Lys1711Asn)
c.2730A>T (p.Lys910Asn)
2g.237367051T>CCA2188737COL6A3c.4518A>G (p.Lys1506=)
c.5136A>G (p.Lys1712=)
c.3315A>G (p.Lys1105=)
c.4536A>G (p.Lys1512=)
c.3915A>G (p.Lys1305=)
c.4635A>G (p.Lys1545=)
c.5133A>G (p.Lys1711=)
c.2730A>G (p.Lys910=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367051T>GCA351188505COL6A3c.4518A>C (p.Lys1506Asn)
c.5136A>C (p.Lys1712Asn)
c.3315A>C (p.Lys1105Asn)
c.4536A>C (p.Lys1512Asn)
c.3915A>C (p.Lys1305Asn)
c.4635A>C (p.Lys1545Asn)
c.5133A>C (p.Lys1711Asn)
c.2730A>C (p.Lys910Asn)
2g.237367051T=CA1337621021COL6A3c.4518A= (p.Lys1506=)
c.5136A= (p.Lys1712=)
c.3315A= (p.Lys1105=)
c.4536A= (p.Lys1512=)
c.3915A= (p.Lys1305=)
c.4635A= (p.Lys1545=)
c.5133A= (p.Lys1711=)
c.2730A= (p.Lys910=)
2g.237367052T>ACA351188511COL6A3c.4517A>T (p.Lys1506Ile)
c.5135A>T (p.Lys1712Ile)
c.3314A>T (p.Lys1105Ile)
c.4535A>T (p.Lys1512Ile)
c.3914A>T (p.Lys1305Ile)
c.4634A>T (p.Lys1545Ile)
c.5132A>T (p.Lys1711Ile)
c.2729A>T (p.Lys910Ile)
2g.237367052T>CCA351188510COL6A3c.4517A>G (p.Lys1506Arg)
c.5135A>G (p.Lys1712Arg)
c.3314A>G (p.Lys1105Arg)
c.4535A>G (p.Lys1512Arg)
c.3914A>G (p.Lys1305Arg)
c.4634A>G (p.Lys1545Arg)
c.5132A>G (p.Lys1711Arg)
c.2729A>G (p.Lys910Arg)
2g.237367052T>GCA351188508COL6A3c.4517A>C (p.Lys1506Thr)
c.5135A>C (p.Lys1712Thr)
c.3314A>C (p.Lys1105Thr)
c.4535A>C (p.Lys1512Thr)
c.3914A>C (p.Lys1305Thr)
c.4634A>C (p.Lys1545Thr)
c.5132A>C (p.Lys1711Thr)
c.2729A>C (p.Lys910Thr)
2g.237367053T>ACA351188515COL6A3c.4516A>T (p.Lys1506Ter)
c.5134A>T (p.Lys1712Ter)
c.3313A>T (p.Lys1105Ter)
c.4534A>T (p.Lys1512Ter)
c.3913A>T (p.Lys1305Ter)
c.4633A>T (p.Lys1545Ter)
c.5131A>T (p.Lys1711Ter)
c.2728A>T (p.Lys910Ter)
2g.237367053T>CCA351188523COL6A3c.4516A>G (p.Lys1506Glu)
c.5134A>G (p.Lys1712Glu)
c.3313A>G (p.Lys1105Glu)
c.4534A>G (p.Lys1512Glu)
c.3913A>G (p.Lys1305Glu)
c.4633A>G (p.Lys1545Glu)
c.5131A>G (p.Lys1711Glu)
c.2728A>G (p.Lys910Glu)
2g.237367053T>GCA351188527COL6A3c.4516A>C (p.Lys1506Gln)
c.5134A>C (p.Lys1712Gln)
c.3313A>C (p.Lys1105Gln)
c.4534A>C (p.Lys1512Gln)
c.3913A>C (p.Lys1305Gln)
c.4633A>C (p.Lys1545Gln)
c.5131A>C (p.Lys1711Gln)
c.2728A>C (p.Lys910Gln)
 gnomAD v4
2g.237367054G>ACA67814565COL6A3c.4515C>T (p.Tyr1505=)
c.5133C>T (p.Tyr1711=)
c.3312C>T (p.Tyr1104=)
c.4533C>T (p.Tyr1511=)
c.3912C>T (p.Tyr1304=)
c.4632C>T (p.Tyr1544=)
c.5130C>T (p.Tyr1710=)
c.2727C>T (p.Tyr909=)
 dbSNP gnomAD v2 gnomAD v4
2g.237367054G>CCA351188529COL6A3c.4515C>G (p.Tyr1505Ter)
c.5133C>G (p.Tyr1711Ter)
c.3312C>G (p.Tyr1104Ter)
c.4533C>G (p.Tyr1511Ter)
c.3912C>G (p.Tyr1304Ter)
c.4632C>G (p.Tyr1544Ter)
c.5130C>G (p.Tyr1710Ter)
c.2727C>G (p.Tyr909Ter)
 COSMIC
2g.237367054G=CA1337621022COL6A3c.4515C= (p.Tyr1505=)
c.5133C= (p.Tyr1711=)
c.3312C= (p.Tyr1104=)
c.4533C= (p.Tyr1511=)
c.3912C= (p.Tyr1304=)
c.4632C= (p.Tyr1544=)
c.5130C= (p.Tyr1710=)
c.2727C= (p.Tyr909=)
2g.237367054G>TCA351188534COL6A3c.4515C>A (p.Tyr1505Ter)
c.5133C>A (p.Tyr1711Ter)
c.3312C>A (p.Tyr1104Ter)
c.4533C>A (p.Tyr1511Ter)
c.3912C>A (p.Tyr1304Ter)
c.4632C>A (p.Tyr1544Ter)
c.5130C>A (p.Tyr1710Ter)
c.2727C>A (p.Tyr909Ter)
2g.237367055T>ACA351188539COL6A3c.4514A>T (p.Tyr1505Phe)
c.5132A>T (p.Tyr1711Phe)
c.3311A>T (p.Tyr1104Phe)
c.4532A>T (p.Tyr1511Phe)
c.3911A>T (p.Tyr1304Phe)
c.4631A>T (p.Tyr1544Phe)
c.5129A>T (p.Tyr1710Phe)
c.2726A>T (p.Tyr909Phe)
2g.237367055T>CCA2188738COL6A3c.4514A>G (p.Tyr1505Cys)
c.5132A>G (p.Tyr1711Cys)
c.3311A>G (p.Tyr1104Cys)
c.4532A>G (p.Tyr1511Cys)
c.3911A>G (p.Tyr1304Cys)
c.4631A>G (p.Tyr1544Cys)
c.5129A>G (p.Tyr1710Cys)
c.2726A>G (p.Tyr909Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367055T>GCA351188553COL6A3c.4514A>C (p.Tyr1505Ser)
c.5132A>C (p.Tyr1711Ser)
c.3311A>C (p.Tyr1104Ser)
c.4532A>C (p.Tyr1511Ser)
c.3911A>C (p.Tyr1304Ser)
c.4631A>C (p.Tyr1544Ser)
c.5129A>C (p.Tyr1710Ser)
c.2726A>C (p.Tyr909Ser)
2g.237367055T=CA1337621023COL6A3c.4514A= (p.Tyr1505=)
c.5132A= (p.Tyr1711=)
c.3311A= (p.Tyr1104=)
c.4532A= (p.Tyr1511=)
c.3911A= (p.Tyr1304=)
c.4631A= (p.Tyr1544=)
c.5129A= (p.Tyr1710=)
c.2726A= (p.Tyr909=)
2g.237367056A>CCA351188560COL6A3c.4513T>G (p.Tyr1505Asp)
c.5131T>G (p.Tyr1711Asp)
c.3310T>G (p.Tyr1104Asp)
c.4531T>G (p.Tyr1511Asp)
c.3910T>G (p.Tyr1304Asp)
c.4630T>G (p.Tyr1544Asp)
c.5128T>G (p.Tyr1710Asp)
c.2725T>G (p.Tyr909Asp)
2g.237367056A>GCA351188562COL6A3c.4513T>C (p.Tyr1505His)
c.5131T>C (p.Tyr1711His)
c.3310T>C (p.Tyr1104His)
c.4531T>C (p.Tyr1511His)
c.3910T>C (p.Tyr1304His)
c.4630T>C (p.Tyr1544His)
c.5128T>C (p.Tyr1710His)
c.2725T>C (p.Tyr909His)
2g.237367056A>TCA351188564COL6A3c.4513T>A (p.Tyr1505Asn)
c.5131T>A (p.Tyr1711Asn)
c.3310T>A (p.Tyr1104Asn)
c.4531T>A (p.Tyr1511Asn)
c.3910T>A (p.Tyr1304Asn)
c.4630T>A (p.Tyr1544Asn)
c.5128T>A (p.Tyr1710Asn)
c.2725T>A (p.Tyr909Asn)
2g.237367057G>ACA431710875COL6A3c.4512C>T (p.Val1504=)
c.5130C>T (p.Val1710=)
c.3309C>T (p.Val1103=)
c.4530C>T (p.Val1510=)
c.3909C>T (p.Val1303=)
c.4629C>T (p.Val1543=)
c.5127C>T (p.Val1709=)
c.2724C>T (p.Val908=)
 gnomAD v4
2g.237367057G>CCA431710876COL6A3c.4512C>G (p.Val1504=)
c.5130C>G (p.Val1710=)
c.3309C>G (p.Val1103=)
c.4530C>G (p.Val1510=)
c.3909C>G (p.Val1303=)
c.4629C>G (p.Val1543=)
c.5127C>G (p.Val1709=)
c.2724C>G (p.Val908=)
2g.237367057G>TCA431710878COL6A3c.4512C>A (p.Val1504=)
c.5130C>A (p.Val1710=)
c.3309C>A (p.Val1103=)
c.4530C>A (p.Val1510=)
c.3909C>A (p.Val1303=)
c.4629C>A (p.Val1543=)
c.5127C>A (p.Val1709=)
c.2724C>A (p.Val908=)
2g.237367058A>CCA351188568COL6A3c.4511T>G (p.Val1504Gly)
c.5129T>G (p.Val1710Gly)
c.3308T>G (p.Val1103Gly)
c.4529T>G (p.Val1510Gly)
c.3908T>G (p.Val1303Gly)
c.4628T>G (p.Val1543Gly)
c.5126T>G (p.Val1709Gly)
c.2723T>G (p.Val908Gly)
2g.237367058A>GCA351188569COL6A3c.4511T>C (p.Val1504Ala)
c.5129T>C (p.Val1710Ala)
c.3308T>C (p.Val1103Ala)
c.4529T>C (p.Val1510Ala)
c.3908T>C (p.Val1303Ala)
c.4628T>C (p.Val1543Ala)
c.5126T>C (p.Val1709Ala)
c.2723T>C (p.Val908Ala)
 dbSNP gnomAD v4
2g.237367058A>TCA351188567COL6A3c.4511T>A (p.Val1504Asp)
c.5129T>A (p.Val1710Asp)
c.3308T>A (p.Val1103Asp)
c.4529T>A (p.Val1510Asp)
c.3908T>A (p.Val1303Asp)
c.4628T>A (p.Val1543Asp)
c.5126T>A (p.Val1709Asp)
c.2723T>A (p.Val908Asp)
2g.237367059C>ACA351188576COL6A3c.4510G>T (p.Val1504Phe)
c.5128G>T (p.Val1710Phe)
c.3307G>T (p.Val1103Phe)
c.4528G>T (p.Val1510Phe)
c.3907G>T (p.Val1303Phe)
c.4627G>T (p.Val1543Phe)
c.5125G>T (p.Val1709Phe)
c.2722G>T (p.Val908Phe)
 gnomAD v4
2g.237367059C=CA1337621024COL6A3c.4510G= (p.Val1504=)
c.5128G= (p.Val1710=)
c.3307G= (p.Val1103=)
c.4528G= (p.Val1510=)
c.3907G= (p.Val1303=)
c.4627G= (p.Val1543=)
c.5125G= (p.Val1709=)
c.2722G= (p.Val908=)
2g.237367059C>GCA351188578COL6A3c.4510G>C (p.Val1504Leu)
c.5128G>C (p.Val1710Leu)
c.3307G>C (p.Val1103Leu)
c.4528G>C (p.Val1510Leu)
c.3907G>C (p.Val1303Leu)
c.4627G>C (p.Val1543Leu)
c.5125G>C (p.Val1709Leu)
c.2722G>C (p.Val908Leu)
2g.237367059C>TCA2188739COL6A3c.4510G>A (p.Val1504Ile)
c.5128G>A (p.Val1710Ile)
c.3307G>A (p.Val1103Ile)
c.4528G>A (p.Val1510Ile)
c.3907G>A (p.Val1303Ile)
c.4627G>A (p.Val1543Ile)
c.5125G>A (p.Val1709Ile)
c.2722G>A (p.Val908Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367060C>ACA431710882COL6A3c.4509G>T (p.Val1503=)
c.5127G>T (p.Val1709=)
c.3306G>T (p.Val1102=)
c.4527G>T (p.Val1509=)
c.3906G>T (p.Val1302=)
c.4626G>T (p.Val1542=)
c.5124G>T (p.Val1708=)
c.2721G>T (p.Val907=)
2g.237367060C=CA1337621025COL6A3c.4509G= (p.Val1503=)
c.5127G= (p.Val1709=)
c.3306G= (p.Val1102=)
c.4527G= (p.Val1509=)
c.3906G= (p.Val1302=)
c.4626G= (p.Val1542=)
c.5124G= (p.Val1708=)
c.2721G= (p.Val907=)
2g.237367060C>GCA431710883COL6A3c.4509G>C (p.Val1503=)
c.5127G>C (p.Val1709=)
c.3306G>C (p.Val1102=)
c.4527G>C (p.Val1509=)
c.3906G>C (p.Val1302=)
c.4626G>C (p.Val1542=)
c.5124G>C (p.Val1708=)
c.2721G>C (p.Val907=)
 dbSNP gnomAD v4
2g.237367060C>TCA2188740COL6A3c.4509G>A (p.Val1503=)
c.5127G>A (p.Val1709=)
c.3306G>A (p.Val1102=)
c.4527G>A (p.Val1509=)
c.3906G>A (p.Val1302=)
c.4626G>A (p.Val1542=)
c.5124G>A (p.Val1708=)
c.2721G>A (p.Val907=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367061A=CA1337621026COL6A3c.4508T= (p.Val1503=)
c.5126T= (p.Val1709=)
c.3305T= (p.Val1102=)
c.4526T= (p.Val1509=)
c.3905T= (p.Val1302=)
c.4625T= (p.Val1542=)
c.5123T= (p.Val1708=)
c.2720T= (p.Val907=)
2g.237367061A>CCA351188581COL6A3c.4508T>G (p.Val1503Gly)
c.5126T>G (p.Val1709Gly)
c.3305T>G (p.Val1102Gly)
c.4526T>G (p.Val1509Gly)
c.3905T>G (p.Val1302Gly)
c.4625T>G (p.Val1542Gly)
c.5123T>G (p.Val1708Gly)
c.2720T>G (p.Val907Gly)
2g.237367061A>GCA351188585COL6A3c.4508T>C (p.Val1503Ala)
c.5126T>C (p.Val1709Ala)
c.3305T>C (p.Val1102Ala)
c.4526T>C (p.Val1509Ala)
c.3905T>C (p.Val1302Ala)
c.4625T>C (p.Val1542Ala)
c.5123T>C (p.Val1708Ala)
c.2720T>C (p.Val907Ala)
2g.237367061A>TCA351188586COL6A3c.4508T>A (p.Val1503Glu)
c.5126T>A (p.Val1709Glu)
c.3305T>A (p.Val1102Glu)
c.4526T>A (p.Val1509Glu)
c.3905T>A (p.Val1302Glu)
c.4625T>A (p.Val1542Glu)
c.5123T>A (p.Val1708Glu)
c.2720T>A (p.Val907Glu)
 ClinVar dbSNP
2g.237367062C>ACA351188591COL6A3c.4507G>T (p.Val1503Leu)
c.5125G>T (p.Val1709Leu)
c.3304G>T (p.Val1102Leu)
c.4525G>T (p.Val1509Leu)
c.3904G>T (p.Val1302Leu)
c.4624G>T (p.Val1542Leu)
c.5122G>T (p.Val1708Leu)
c.2719G>T (p.Val907Leu)
2g.237367062C>GCA351188592COL6A3c.4507G>C (p.Val1503Leu)
c.5125G>C (p.Val1709Leu)
c.3304G>C (p.Val1102Leu)
c.4525G>C (p.Val1509Leu)
c.3904G>C (p.Val1302Leu)
c.4624G>C (p.Val1542Leu)
c.5122G>C (p.Val1708Leu)
c.2719G>C (p.Val907Leu)
2g.237367062C>TCA351188593COL6A3c.4507G>A (p.Val1503Met)
c.5125G>A (p.Val1709Met)
c.3304G>A (p.Val1102Met)
c.4525G>A (p.Val1509Met)
c.3904G>A (p.Val1302Met)
c.4624G>A (p.Val1542Met)
c.5122G>A (p.Val1708Met)
c.2719G>A (p.Val907Met)
2g.237367063T>ACA351188596COL6A3c.4506A>T (p.Lys1502Asn)
c.5124A>T (p.Lys1708Asn)
c.3303A>T (p.Lys1101Asn)
c.4524A>T (p.Lys1508Asn)
c.3903A>T (p.Lys1301Asn)
c.4623A>T (p.Lys1541Asn)
c.5121A>T (p.Lys1707Asn)
c.2718A>T (p.Lys906Asn)
2g.237367063T>CCA431710888COL6A3c.4506A>G (p.Lys1502=)
c.5124A>G (p.Lys1708=)
c.3303A>G (p.Lys1101=)
c.4524A>G (p.Lys1508=)
c.3903A>G (p.Lys1301=)
c.4623A>G (p.Lys1541=)
c.5121A>G (p.Lys1707=)
c.2718A>G (p.Lys906=)
2g.237367063T>GCA351188600COL6A3c.4506A>C (p.Lys1502Asn)
c.5124A>C (p.Lys1708Asn)
c.3303A>C (p.Lys1101Asn)
c.4524A>C (p.Lys1508Asn)
c.3903A>C (p.Lys1301Asn)
c.4623A>C (p.Lys1541Asn)
c.5121A>C (p.Lys1707Asn)
c.2718A>C (p.Lys906Asn)
2g.237367064T>ACA351188614COL6A3c.4505A>T (p.Lys1502Ile)
c.5123A>T (p.Lys1708Ile)
c.3302A>T (p.Lys1101Ile)
c.4523A>T (p.Lys1508Ile)
c.3902A>T (p.Lys1301Ile)
c.4622A>T (p.Lys1541Ile)
c.5120A>T (p.Lys1707Ile)
c.2717A>T (p.Lys906Ile)
2g.237367064T>CCA2188741COL6A3c.4505A>G (p.Lys1502Arg)
c.5123A>G (p.Lys1708Arg)
c.3302A>G (p.Lys1101Arg)
c.4523A>G (p.Lys1508Arg)
c.3902A>G (p.Lys1301Arg)
c.4622A>G (p.Lys1541Arg)
c.5120A>G (p.Lys1707Arg)
c.2717A>G (p.Lys906Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367064T>GCA351188610COL6A3c.4505A>C (p.Lys1502Thr)
c.5123A>C (p.Lys1708Thr)
c.3302A>C (p.Lys1101Thr)
c.4523A>C (p.Lys1508Thr)
c.3902A>C (p.Lys1301Thr)
c.4622A>C (p.Lys1541Thr)
c.5120A>C (p.Lys1707Thr)
c.2717A>C (p.Lys906Thr)
2g.237367064T=CA1337621027COL6A3c.4505A= (p.Lys1502=)
c.5123A= (p.Lys1708=)
c.3302A= (p.Lys1101=)
c.4523A= (p.Lys1508=)
c.3902A= (p.Lys1301=)
c.4622A= (p.Lys1541=)
c.5120A= (p.Lys1707=)
c.2717A= (p.Lys906=)
2g.237367065T>ACA351188619COL6A3c.4504A>T (p.Lys1502Ter)
c.5122A>T (p.Lys1708Ter)
c.3301A>T (p.Lys1101Ter)
c.4522A>T (p.Lys1508Ter)
c.3901A>T (p.Lys1301Ter)
c.4621A>T (p.Lys1541Ter)
c.5119A>T (p.Lys1707Ter)
c.2716A>T (p.Lys906Ter)
2g.237367065T>CCA351188624COL6A3c.4504A>G (p.Lys1502Glu)
c.5122A>G (p.Lys1708Glu)
c.3301A>G (p.Lys1101Glu)
c.4522A>G (p.Lys1508Glu)
c.3901A>G (p.Lys1301Glu)
c.4621A>G (p.Lys1541Glu)
c.5119A>G (p.Lys1707Glu)
c.2716A>G (p.Lys906Glu)
 gnomAD v4 COSMIC
2g.237367065T>GCA351188626COL6A3c.4504A>C (p.Lys1502Gln)
c.5122A>C (p.Lys1708Gln)
c.3301A>C (p.Lys1101Gln)
c.4522A>C (p.Lys1508Gln)
c.3901A>C (p.Lys1301Gln)
c.4621A>C (p.Lys1541Gln)
c.5119A>C (p.Lys1707Gln)
c.2716A>C (p.Lys906Gln)
2g.237367066G>ACA431710895COL6A3c.4503C>T (p.Asn1501=)
c.5121C>T (p.Asn1707=)
c.3300C>T (p.Asn1100=)
c.4521C>T (p.Asn1507=)
c.3900C>T (p.Asn1300=)
c.4620C>T (p.Asn1540=)
c.5118C>T (p.Asn1706=)
c.2715C>T (p.Asn905=)
2g.237367066G>CCA351188630COL6A3c.4503C>G (p.Asn1501Lys)
c.5121C>G (p.Asn1707Lys)
c.3300C>G (p.Asn1100Lys)
c.4521C>G (p.Asn1507Lys)
c.3900C>G (p.Asn1300Lys)
c.4620C>G (p.Asn1540Lys)
c.5118C>G (p.Asn1706Lys)
c.2715C>G (p.Asn905Lys)
2g.237367066G>TCA351188634COL6A3c.4503C>A (p.Asn1501Lys)
c.5121C>A (p.Asn1707Lys)
c.3300C>A (p.Asn1100Lys)
c.4521C>A (p.Asn1507Lys)
c.3900C>A (p.Asn1300Lys)
c.4620C>A (p.Asn1540Lys)
c.5118C>A (p.Asn1706Lys)
c.2715C>A (p.Asn905Lys)
2g.237367067T>ACA351188647COL6A3c.4502A>T (p.Asn1501Ile)
c.5120A>T (p.Asn1707Ile)
c.3299A>T (p.Asn1100Ile)
c.4520A>T (p.Asn1507Ile)
c.3899A>T (p.Asn1300Ile)
c.4619A>T (p.Asn1540Ile)
c.5117A>T (p.Asn1706Ile)
c.2714A>T (p.Asn905Ile)
2g.237367067T>CCA351188649COL6A3c.4502A>G (p.Asn1501Ser)
c.5120A>G (p.Asn1707Ser)
c.3299A>G (p.Asn1100Ser)
c.4520A>G (p.Asn1507Ser)
c.3899A>G (p.Asn1300Ser)
c.4619A>G (p.Asn1540Ser)
c.5117A>G (p.Asn1706Ser)
c.2714A>G (p.Asn905Ser)
 COSMIC
2g.237367067T>GCA351188651COL6A3c.4502A>C (p.Asn1501Thr)
c.5120A>C (p.Asn1707Thr)
c.3299A>C (p.Asn1100Thr)
c.4520A>C (p.Asn1507Thr)
c.3899A>C (p.Asn1300Thr)
c.4619A>C (p.Asn1540Thr)
c.5117A>C (p.Asn1706Thr)
c.2714A>C (p.Asn905Thr)
2g.237367068T>ACA351188654COL6A3c.4501A>T (p.Asn1501Tyr)
c.5119A>T (p.Asn1707Tyr)
c.3298A>T (p.Asn1100Tyr)
c.4519A>T (p.Asn1507Tyr)
c.3898A>T (p.Asn1300Tyr)
c.4618A>T (p.Asn1540Tyr)
c.5116A>T (p.Asn1706Tyr)
c.2713A>T (p.Asn905Tyr)
2g.237367068T>CCA351188659COL6A3c.4501A>G (p.Asn1501Asp)
c.5119A>G (p.Asn1707Asp)
c.3298A>G (p.Asn1100Asp)
c.4519A>G (p.Asn1507Asp)
c.3898A>G (p.Asn1300Asp)
c.4618A>G (p.Asn1540Asp)
c.5116A>G (p.Asn1706Asp)
c.2713A>G (p.Asn905Asp)
2g.237367068T>GCA67814571COL6A3c.4501A>C (p.Asn1501His)
c.5119A>C (p.Asn1707His)
c.3298A>C (p.Asn1100His)
c.4519A>C (p.Asn1507His)
c.3898A>C (p.Asn1300His)
c.4618A>C (p.Asn1540His)
c.5116A>C (p.Asn1706His)
c.2713A>C (p.Asn905His)
 dbSNP gnomAD v2 gnomAD v4
2g.237367068T=CA1337621028COL6A3c.4501A= (p.Asn1501=)
c.5119A= (p.Asn1707=)
c.3298A= (p.Asn1100=)
c.4519A= (p.Asn1507=)
c.3898A= (p.Asn1300=)
c.4618A= (p.Asn1540=)
c.5116A= (p.Asn1706=)
c.2713A= (p.Asn905=)
2g.237367069G>ACA2188742COL6A3c.4500C>T (p.Ile1500=)
c.5118C>T (p.Ile1706=)
c.3297C>T (p.Ile1099=)
c.4518C>T (p.Ile1506=)
c.3897C>T (p.Ile1299=)
c.4617C>T (p.Ile1539=)
c.5115C>T (p.Ile1705=)
c.2712C>T (p.Ile904=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367069G>CCA351188673COL6A3c.4500C>G (p.Ile1500Met)
c.5118C>G (p.Ile1706Met)
c.3297C>G (p.Ile1099Met)
c.4518C>G (p.Ile1506Met)
c.3897C>G (p.Ile1299Met)
c.4617C>G (p.Ile1539Met)
c.5115C>G (p.Ile1705Met)
c.2712C>G (p.Ile904Met)
2g.237367069G=CA1337621029COL6A3c.4500C= (p.Ile1500=)
c.5118C= (p.Ile1706=)
c.3297C= (p.Ile1099=)
c.4518C= (p.Ile1506=)
c.3897C= (p.Ile1299=)
c.4617C= (p.Ile1539=)
c.5115C= (p.Ile1705=)
c.2712C= (p.Ile904=)
2g.237367069G>TCA431710900COL6A3c.4500C>A (p.Ile1500=)
c.5118C>A (p.Ile1706=)
c.3297C>A (p.Ile1099=)
c.4518C>A (p.Ile1506=)
c.3897C>A (p.Ile1299=)
c.4617C>A (p.Ile1539=)
c.5115C>A (p.Ile1705=)
c.2712C>A (p.Ile904=)
2g.237367070A>CCA351188679COL6A3c.4499T>G (p.Ile1500Ser)
c.5117T>G (p.Ile1706Ser)
c.3296T>G (p.Ile1099Ser)
c.4517T>G (p.Ile1506Ser)
c.3896T>G (p.Ile1299Ser)
c.4616T>G (p.Ile1539Ser)
c.5114T>G (p.Ile1705Ser)
c.2711T>G (p.Ile904Ser)
2g.237367070A>GCA351188678COL6A3c.4499T>C (p.Ile1500Thr)
c.5117T>C (p.Ile1706Thr)
c.3296T>C (p.Ile1099Thr)
c.4517T>C (p.Ile1506Thr)
c.3896T>C (p.Ile1299Thr)
c.4616T>C (p.Ile1539Thr)
c.5114T>C (p.Ile1705Thr)
c.2711T>C (p.Ile904Thr)
2g.237367070A>TCA351188677COL6A3c.4499T>A (p.Ile1500Asn)
c.5117T>A (p.Ile1706Asn)
c.3296T>A (p.Ile1099Asn)
c.4517T>A (p.Ile1506Asn)
c.3896T>A (p.Ile1299Asn)
c.4616T>A (p.Ile1539Asn)
c.5114T>A (p.Ile1705Asn)
c.2711T>A (p.Ile904Asn)
2g.237367071T>ACA351188683COL6A3c.4498A>T (p.Ile1500Phe)
c.5116A>T (p.Ile1706Phe)
c.3295A>T (p.Ile1099Phe)
c.4516A>T (p.Ile1506Phe)
c.3895A>T (p.Ile1299Phe)
c.4615A>T (p.Ile1539Phe)
c.5113A>T (p.Ile1705Phe)
c.2710A>T (p.Ile904Phe)
2g.237367071T>CCA351188680COL6A3c.4498A>G (p.Ile1500Val)
c.5116A>G (p.Ile1706Val)
c.3295A>G (p.Ile1099Val)
c.4516A>G (p.Ile1506Val)
c.3895A>G (p.Ile1299Val)
c.4615A>G (p.Ile1539Val)
c.5113A>G (p.Ile1705Val)
c.2710A>G (p.Ile904Val)
2g.237367071T>GCA351188685COL6A3c.4498A>C (p.Ile1500Leu)
c.5116A>C (p.Ile1706Leu)
c.3295A>C (p.Ile1099Leu)
c.4516A>C (p.Ile1506Leu)
c.3895A>C (p.Ile1299Leu)
c.4615A>C (p.Ile1539Leu)
c.5113A>C (p.Ile1705Leu)
c.2710A>C (p.Ile904Leu)
2g.237367072G>ACA431710903COL6A3c.4497C>T (p.Ala1499=)
c.5115C>T (p.Ala1705=)
c.3294C>T (p.Ala1098=)
c.4515C>T (p.Ala1505=)
c.3894C>T (p.Ala1298=)
c.4614C>T (p.Ala1538=)
c.5112C>T (p.Ala1704=)
c.2709C>T (p.Ala903=)
 dbSNP gnomAD v2 gnomAD v4
2g.237367072G>CCA431710905COL6A3c.4497C>G (p.Ala1499=)
c.5115C>G (p.Ala1705=)
c.3294C>G (p.Ala1098=)
c.4515C>G (p.Ala1505=)
c.3894C>G (p.Ala1298=)
c.4614C>G (p.Ala1538=)
c.5112C>G (p.Ala1704=)
c.2709C>G (p.Ala903=)
2g.237367072G=CA1337621030COL6A3c.4497C= (p.Ala1499=)
c.5115C= (p.Ala1705=)
c.3294C= (p.Ala1098=)
c.4515C= (p.Ala1505=)
c.3894C= (p.Ala1298=)
c.4614C= (p.Ala1538=)
c.5112C= (p.Ala1704=)
c.2709C= (p.Ala903=)
2g.237367072G>TCA431710904COL6A3c.4497C>A (p.Ala1499=)
c.5115C>A (p.Ala1705=)
c.3294C>A (p.Ala1098=)
c.4515C>A (p.Ala1505=)
c.3894C>A (p.Ala1298=)
c.4614C>A (p.Ala1538=)
c.5112C>A (p.Ala1704=)
c.2709C>A (p.Ala903=)
2g.237367073G>ACA351188689COL6A3c.4496C>T (p.Ala1499Val)
c.5114C>T (p.Ala1705Val)
c.3293C>T (p.Ala1098Val)
c.4514C>T (p.Ala1505Val)
c.3893C>T (p.Ala1298Val)
c.4613C>T (p.Ala1538Val)
c.5111C>T (p.Ala1704Val)
c.2708C>T (p.Ala903Val)
 gnomAD v4
2g.237367073G>CCA351188690COL6A3c.4496C>G (p.Ala1499Gly)
c.5114C>G (p.Ala1705Gly)
c.3293C>G (p.Ala1098Gly)
c.4514C>G (p.Ala1505Gly)
c.3893C>G (p.Ala1298Gly)
c.4613C>G (p.Ala1538Gly)
c.5111C>G (p.Ala1704Gly)
c.2708C>G (p.Ala903Gly)
2g.237367073G=CA1337621031COL6A3c.4496C= (p.Ala1499=)
c.5114C= (p.Ala1705=)
c.3293C= (p.Ala1098=)
c.4514C= (p.Ala1505=)
c.3893C= (p.Ala1298=)
c.4613C= (p.Ala1538=)
c.5111C= (p.Ala1704=)
c.2708C= (p.Ala903=)
2g.237367073G>TCA351188691COL6A3c.4496C>A (p.Ala1499Asp)
c.5114C>A (p.Ala1705Asp)
c.3293C>A (p.Ala1098Asp)
c.4514C>A (p.Ala1505Asp)
c.3893C>A (p.Ala1298Asp)
c.4613C>A (p.Ala1538Asp)
c.5111C>A (p.Ala1704Asp)
c.2708C>A (p.Ala903Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.237367074C>ACA351188692COL6A3c.4495G>T (p.Ala1499Ser)
c.5113G>T (p.Ala1705Ser)
c.3292G>T (p.Ala1098Ser)
c.4513G>T (p.Ala1505Ser)
c.3892G>T (p.Ala1298Ser)
c.4612G>T (p.Ala1538Ser)
c.5110G>T (p.Ala1704Ser)
c.2707G>T (p.Ala903Ser)
 dbSNP
2g.237367074C=CA1337621032COL6A3c.4495G= (p.Ala1499=)
c.5113G= (p.Ala1705=)
c.3292G= (p.Ala1098=)
c.4513G= (p.Ala1505=)
c.3892G= (p.Ala1298=)
c.4612G= (p.Ala1538=)
c.5110G= (p.Ala1704=)
c.2707G= (p.Ala903=)
2g.237367074C>GCA351188696COL6A3c.4495G>C (p.Ala1499Pro)
c.5113G>C (p.Ala1705Pro)
c.3292G>C (p.Ala1098Pro)
c.4513G>C (p.Ala1505Pro)
c.3892G>C (p.Ala1298Pro)
c.4612G>C (p.Ala1538Pro)
c.5110G>C (p.Ala1704Pro)
c.2707G>C (p.Ala903Pro)
2g.237367074C>TCA10604304COL6A3c.4495G>A (p.Ala1499Thr)
c.5113G>A (p.Ala1705Thr)
c.3292G>A (p.Ala1098Thr)
c.4513G>A (p.Ala1505Thr)
c.3892G>A (p.Ala1298Thr)
c.4612G>A (p.Ala1538Thr)
c.5110G>A (p.Ala1704Thr)
c.2707G>A (p.Ala903Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237367075G>ACA2188743COL6A3c.4494C>T (p.Asp1498=)
c.5112C>T (p.Asp1704=)
c.3291C>T (p.Asp1097=)
c.4512C>T (p.Asp1504=)
c.3891C>T (p.Asp1297=)
c.4611C>T (p.Asp1537=)
c.5109C>T (p.Asp1703=)
c.2706C>T (p.Asp902=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237367075G>CCA351188703COL6A3c.4494C>G (p.Asp1498Glu)
c.5112C>G (p.Asp1704Glu)
c.3291C>G (p.Asp1097Glu)
c.4512C>G (p.Asp1504Glu)
c.3891C>G (p.Asp1297Glu)
c.4611C>G (p.Asp1537Glu)
c.5109C>G (p.Asp1703Glu)
c.2706C>G (p.Asp902Glu)
2g.237367075G=CA1337621033COL6A3c.4494C= (p.Asp1498=)
c.5112C= (p.Asp1704=)
c.3291C= (p.Asp1097=)
c.4512C= (p.Asp1504=)
c.3891C= (p.Asp1297=)
c.4611C= (p.Asp1537=)
c.5109C= (p.Asp1703=)
c.2706C= (p.Asp902=)
2g.237367075G>TCA351188707COL6A3c.4494C>A (p.Asp1498Glu)
c.5112C>A (p.Asp1704Glu)
c.3291C>A (p.Asp1097Glu)
c.4512C>A (p.Asp1504Glu)
c.3891C>A (p.Asp1297Glu)
c.4611C>A (p.Asp1537Glu)
c.5109C>A (p.Asp1703Glu)
c.2706C>A (p.Asp902Glu)
2g.237367076T>ACA351188713COL6A3c.4493A>T (p.Asp1498Val)
c.5111A>T (p.Asp1704Val)
c.3290A>T (p.Asp1097Val)
c.4511A>T (p.Asp1504Val)
c.3890A>T (p.Asp1297Val)
c.4610A>T (p.Asp1537Val)
c.5108A>T (p.Asp1703Val)
c.2705A>T (p.Asp902Val)
2g.237367076T>CCA351188717COL6A3c.4493A>G (p.Asp1498Gly)
c.5111A>G (p.Asp1704Gly)
c.3290A>G (p.Asp1097Gly)
c.4511A>G (p.Asp1504Gly)
c.3890A>G (p.Asp1297Gly)
c.4610A>G (p.Asp1537Gly)
c.5108A>G (p.Asp1703Gly)
c.2705A>G (p.Asp902Gly)
2g.237367076T>GCA351188718COL6A3c.4493A>C (p.Asp1498Ala)
c.5111A>C (p.Asp1704Ala)
c.3290A>C (p.Asp1097Ala)
c.4511A>C (p.Asp1504Ala)
c.3890A>C (p.Asp1297Ala)
c.4610A>C (p.Asp1537Ala)
c.5108A>C (p.Asp1703Ala)
c.2705A>C (p.Asp902Ala)
2g.237367077C>ACA351188724COL6A3c.4492G>T (p.Asp1498Tyr)
c.5110G>T (p.Asp1704Tyr)
c.3289G>T (p.Asp1097Tyr)
c.4510G>T (p.Asp1504Tyr)
c.3889G>T (p.Asp1297Tyr)
c.4609G>T (p.Asp1537Tyr)
c.5107G>T (p.Asp1703Tyr)
c.2704G>T (p.Asp902Tyr)
2g.237367077C>GCA351188719COL6A3c.4492G>C (p.Asp1498His)
c.5110G>C (p.Asp1704His)
c.3289G>C (p.Asp1097His)
c.4510G>C (p.Asp1504His)
c.3889G>C (p.Asp1297His)
c.4609G>C (p.Asp1537His)
c.5107G>C (p.Asp1703His)
c.2704G>C (p.Asp902His)
2g.237367077C>TCA351188720COL6A3c.4492G>A (p.Asp1498Asn)
c.5110G>A (p.Asp1704Asn)
c.3289G>A (p.Asp1097Asn)
c.4510G>A (p.Asp1504Asn)
c.3889G>A (p.Asp1297Asn)
c.4609G>A (p.Asp1537Asn)
c.5107G>A (p.Asp1703Asn)
c.2704G>A (p.Asp902Asn)
 COSMIC
2g.237367078A>CCA351188728COL6A3c.4491T>G (p.Ile1497Met)
c.5109T>G (p.Ile1703Met)
c.3288T>G (p.Ile1096Met)
c.4509T>G (p.Ile1503Met)
c.3888T>G (p.Ile1296Met)
c.4608T>G (p.Ile1536Met)
c.5106T>G (p.Ile1702Met)
c.2703T>G (p.Ile901Met)
2g.237367078A>GCA431710915COL6A3c.4491T>C (p.Ile1497=)
c.5109T>C (p.Ile1703=)
c.3288T>C (p.Ile1096=)
c.4509T>C (p.Ile1503=)
c.3888T>C (p.Ile1296=)
c.4608T>C (p.Ile1536=)
c.5106T>C (p.Ile1702=)
c.2703T>C (p.Ile901=)
2g.237367078A>TCA431710916COL6A3c.4491T>A (p.Ile1497=)
c.5109T>A (p.Ile1703=)
c.3288T>A (p.Ile1096=)
c.4509T>A (p.Ile1503=)
c.3888T>A (p.Ile1296=)
c.4608T>A (p.Ile1536=)
c.5106T>A (p.Ile1702=)
c.2703T>A (p.Ile901=)
2g.237367079A>CCA351188734COL6A3c.4490T>G (p.Ile1497Ser)
c.5108T>G (p.Ile1703Ser)
c.3287T>G (p.Ile1096Ser)
c.4508T>G (p.Ile1503Ser)
c.3887T>G (p.Ile1296Ser)
c.4607T>G (p.Ile1536Ser)
c.5105T>G (p.Ile1702Ser)
c.2702T>G (p.Ile901Ser)
2g.237367079A>GCA351188736COL6A3c.4490T>C (p.Ile1497Thr)
c.5108T>C (p.Ile1703Thr)
c.3287T>C (p.Ile1096Thr)
c.4508T>C (p.Ile1503Thr)
c.3887T>C (p.Ile1296Thr)
c.4607T>C (p.Ile1536Thr)
c.5105T>C (p.Ile1702Thr)
c.2702T>C (p.Ile901Thr)
2g.237367079A>TCA351188739COL6A3c.4490T>A (p.Ile1497Asn)
c.5108T>A (p.Ile1703Asn)
c.3287T>A (p.Ile1096Asn)
c.4508T>A (p.Ile1503Asn)
c.3887T>A (p.Ile1296Asn)
c.4607T>A (p.Ile1536Asn)
c.5105T>A (p.Ile1702Asn)
c.2702T>A (p.Ile901Asn)
2g.237367080T>ACA351188747COL6A3c.4489A>T (p.Ile1497Phe)
c.5107A>T (p.Ile1703Phe)
c.3286A>T (p.Ile1096Phe)
c.4507A>T (p.Ile1503Phe)
c.3886A>T (p.Ile1296Phe)
c.4606A>T (p.Ile1536Phe)
c.5104A>T (p.Ile1702Phe)
c.2701A>T (p.Ile901Phe)
2g.237367080T>CCA351188749COL6A3c.4489A>G (p.Ile1497Val)
c.5107A>G (p.Ile1703Val)
c.3286A>G (p.Ile1096Val)
c.4507A>G (p.Ile1503Val)
c.3886A>G (p.Ile1296Val)
c.4606A>G (p.Ile1536Val)
c.5104A>G (p.Ile1702Val)
c.2701A>G (p.Ile901Val)
2g.237367080T>GCA351188755COL6A3c.4489A>C (p.Ile1497Leu)
c.5107A>C (p.Ile1703Leu)
c.3286A>C (p.Ile1096Leu)
c.4507A>C (p.Ile1503Leu)
c.3886A>C (p.Ile1296Leu)
c.4606A>C (p.Ile1536Leu)
c.5104A>C (p.Ile1702Leu)
c.2701A>C (p.Ile901Leu)
2g.237367081A>CCA351188758COL6A3c.4488T>G (p.Ile1496Met)
c.5106T>G (p.Ile1702Met)
c.3285T>G (p.Ile1095Met)
c.4506T>G (p.Ile1502Met)
c.3885T>G (p.Ile1295Met)
c.4605T>G (p.Ile1535Met)
c.5103T>G (p.Ile1701Met)
c.2700T>G (p.Ile900Met)
2g.237367081A>GCA431710924COL6A3c.4488T>C (p.Ile1496=)
c.5106T>C (p.Ile1702=)
c.3285T>C (p.Ile1095=)
c.4506T>C (p.Ile1502=)
c.3885T>C (p.Ile1295=)
c.4605T>C (p.Ile1535=)
c.5103T>C (p.Ile1701=)
c.2700T>C (p.Ile900=)
 gnomAD v4
2g.237367081A>TCA431710925COL6A3c.4488T>A (p.Ile1496=)
c.5106T>A (p.Ile1702=)
c.3285T>A (p.Ile1095=)
c.4506T>A (p.Ile1502=)
c.3885T>A (p.Ile1295=)
c.4605T>A (p.Ile1535=)
c.5103T>A (p.Ile1701=)
c.2700T>A (p.Ile900=)
2g.237367081_237367082insCCTAGAAAACGAATTGCATTAACAGATAGATTTGACATAGAATTTCCTTTCTCTTTGAGGTGATTAATGAACCACACCA2529218344COL6A3c.4487_4488insGTGTGGTTCATTAATCACCTCAAAGAGAAAGGAAATTCTATGTCAAATCTATCTGTTAATGCAATTCGTTTTCTAGG (p.Ile1496MetfsTer26)
c.5105_5106insGTGTGGTTCATTAATCACCTCAAAGAGAAAGGAAATTCTATGTCAAATCTATCTGTTAATGCAATTCGTTTTCTAGG (p.Ile1702MetfsTer26)
c.3284_3285insGTGTGGTTCATTAATCACCTCAAAGAGAAAGGAAATTCTATGTCAAATCTATCTGTTAATGCAATTCGTTTTCTAGG (p.Ile1095MetfsTer26)
c.4505_4506insGTGTGGTTCATTAATCACCTCAAAGAGAAAGGAAATTCTATGTCAAATCTATCTGTTAATGCAATTCGTTTTCTAGG (p.Ile1502MetfsTer26)
c.3884_3885insGTGTGGTTCATTAATCACCTCAAAGAGAAAGGAAATTCTATGTCAAATCTATCTGTTAATGCAATTCGTTTTCTAGG (p.Ile1295MetfsTer26)
c.4604_4605insGTGTGGTTCATTAATCACCTCAAAGAGAAAGGAAATTCTATGTCAAATCTATCTGTTAATGCAATTCGTTTTCTAGG (p.Ile1535MetfsTer26)
c.5102_5103insGTGTGGTTCATTAATCACCTCAAAGAGAAAGGAAATTCTATGTCAAATCTATCTGTTAATGCAATTCGTTTTCTAGG (p.Ile1701MetfsTer26)
c.2699_2700insGTGTGGTTCATTAATCACCTCAAAGAGAAAGGAAATTCTATGTCAAATCTATCTGTTAATGCAATTCGTTTTCTAGG (p.Ile900MetfsTer26)
2g.237367082A=CA1337621034COL6A3c.4487T= (p.Ile1496=)
c.5105T= (p.Ile1702=)
c.3284T= (p.Ile1095=)
c.4505T= (p.Ile1502=)
c.3884T= (p.Ile1295=)
c.4604T= (p.Ile1535=)
c.5102T= (p.Ile1701=)
c.2699T= (p.Ile900=)
2g.237367082A>CCA351188763COL6A3c.4487T>G (p.Ile1496Ser)
c.5105T>G (p.Ile1702Ser)
c.3284T>G (p.Ile1095Ser)
c.4505T>G (p.Ile1502Ser)
c.3884T>G (p.Ile1295Ser)
c.4604T>G (p.Ile1535Ser)
c.5102T>G (p.Ile1701Ser)
c.2699T>G (p.Ile900Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.237367082A>GCA351188766COL6A3c.4487T>C (p.Ile1496Thr)
c.5105T>C (p.Ile1702Thr)
c.3284T>C (p.Ile1095Thr)
c.4505T>C (p.Ile1502Thr)
c.3884T>C (p.Ile1295Thr)
c.4604T>C (p.Ile1535Thr)
c.5102T>C (p.Ile1701Thr)
c.2699T>C (p.Ile900Thr)
2g.237367082A>TCA351188773COL6A3c.4487T>A (p.Ile1496Asn)
c.5105T>A (p.Ile1702Asn)
c.3284T>A (p.Ile1095Asn)
c.4505T>A (p.Ile1502Asn)
c.3884T>A (p.Ile1295Asn)
c.4604T>A (p.Ile1535Asn)
c.5102T>A (p.Ile1701Asn)
c.2699T>A (p.Ile900Asn)
2g.237367083T>ACA351188785COL6A3c.4486A>T (p.Ile1496Phe)
c.5104A>T (p.Ile1702Phe)
c.3283A>T (p.Ile1095Phe)
c.4504A>T (p.Ile1502Phe)
c.3883A>T (p.Ile1295Phe)
c.4603A>T (p.Ile1535Phe)
c.5101A>T (p.Ile1701Phe)
c.2698A>T (p.Ile900Phe)
 dbSNP gnomAD v4
2g.237367083T>CCA351188786COL6A3c.4486A>G (p.Ile1496Val)
c.5104A>G (p.Ile1702Val)
c.3283A>G (p.Ile1095Val)
c.4504A>G (p.Ile1502Val)
c.3883A>G (p.Ile1295Val)
c.4603A>G (p.Ile1535Val)
c.5101A>G (p.Ile1701Val)
c.2698A>G (p.Ile900Val)
2g.237367083T>GCA351188784COL6A3c.4486A>C (p.Ile1496Leu)
c.5104A>C (p.Ile1702Leu)
c.3283A>C (p.Ile1095Leu)
c.4504A>C (p.Ile1502Leu)
c.3883A>C (p.Ile1295Leu)
c.4603A>C (p.Ile1535Leu)
c.5101A>C (p.Ile1701Leu)
c.2698A>C (p.Ile900Leu)
 gnomAD v4
2g.237367083T=CA1337621035COL6A3c.4486A= (p.Ile1496=)
c.5104A= (p.Ile1702=)
c.3283A= (p.Ile1095=)
c.4504A= (p.Ile1502=)
c.3883A= (p.Ile1295=)
c.4603A= (p.Ile1535=)
c.5101A= (p.Ile1701=)
c.2698A= (p.Ile900=)
2g.237367084C>ACA351188790COL6A3c.4485G>T (p.Gln1495His)
c.5103G>T (p.Gln1701His)
c.3282G>T (p.Gln1094His)
c.4503G>T (p.Gln1501His)
c.3882G>T (p.Gln1294His)
c.4602G>T (p.Gln1534His)
c.5100G>T (p.Gln1700His)
c.2697G>T (p.Gln899His)
2g.237367084C>GCA351188794COL6A3c.4485G>C (p.Gln1495His)
c.5103G>C (p.Gln1701His)
c.3282G>C (p.Gln1094His)
c.4503G>C (p.Gln1501His)
c.3882G>C (p.Gln1294His)
c.4602G>C (p.Gln1534His)
c.5100G>C (p.Gln1700His)
c.2697G>C (p.Gln899His)
2g.237367084C>TCA431710930COL6A3c.4485G>A (p.Gln1495=)
c.5103G>A (p.Gln1701=)
c.3282G>A (p.Gln1094=)
c.4503G>A (p.Gln1501=)
c.3882G>A (p.Gln1294=)
c.4602G>A (p.Gln1534=)
c.5100G>A (p.Gln1700=)
c.2697G>A (p.Gln899=)
2g.237367084_237367085insCTATTTTACTATTATATGAAAAAATGCATAGAATAGCAATAAAACAATTCA2511918709COL6A3c.4484_4485insAATTGTTTTATTGCTATTCTATGCATTTTTTCATATAATAGTAAAATAG (p.Ile1497ValfsTer15)
c.5102_5103insAATTGTTTTATTGCTATTCTATGCATTTTTTCATATAATAGTAAAATAG (p.Ile1703ValfsTer15)
c.3281_3282insAATTGTTTTATTGCTATTCTATGCATTTTTTCATATAATAGTAAAATAG (p.Ile1096ValfsTer15)
c.4502_4503insAATTGTTTTATTGCTATTCTATGCATTTTTTCATATAATAGTAAAATAG (p.Ile1503ValfsTer15)
c.3881_3882insAATTGTTTTATTGCTATTCTATGCATTTTTTCATATAATAGTAAAATAG (p.Ile1296ValfsTer15)
c.4601_4602insAATTGTTTTATTGCTATTCTATGCATTTTTTCATATAATAGTAAAATAG (p.Ile1536ValfsTer15)
c.5099_5100insAATTGTTTTATTGCTATTCTATGCATTTTTTCATATAATAGTAAAATAG (p.Ile1702ValfsTer15)
c.2696_2697insAATTGTTTTATTGCTATTCTATGCATTTTTTCATATAATAGTAAAATAG (p.Ile901ValfsTer15)
2g.237367085T>ACA351188803COL6A3c.4484A>T (p.Gln1495Leu)
c.5102A>T (p.Gln1701Leu)
c.3281A>T (p.Gln1094Leu)
c.4502A>T (p.Gln1501Leu)
c.3881A>T (p.Gln1294Leu)
c.4601A>T (p.Gln1534Leu)
c.5099A>T (p.Gln1700Leu)
c.2696A>T (p.Gln899Leu)
 COSMIC
2g.237367085T>CCA351188807COL6A3c.4484A>G (p.Gln1495Arg)
c.5102A>G (p.Gln1701Arg)
c.3281A>G (p.Gln1094Arg)
c.4502A>G (p.Gln1501Arg)
c.3881A>G (p.Gln1294Arg)
c.4601A>G (p.Gln1534Arg)
c.5099A>G (p.Gln1700Arg)
c.2696A>G (p.Gln899Arg)
2g.237367085T>GCA351188811COL6A3c.4484A>C (p.Gln1495Pro)
c.5102A>C (p.Gln1701Pro)
c.3281A>C (p.Gln1094Pro)
c.4502A>C (p.Gln1501Pro)
c.3881A>C (p.Gln1294Pro)
c.4601A>C (p.Gln1534Pro)
c.5099A>C (p.Gln1700Pro)
c.2696A>C (p.Gln899Pro)
2g.237367086G>ACA351188815COL6A3c.4483C>T (p.Gln1495Ter)
c.5101C>T (p.Gln1701Ter)
c.3280C>T (p.Gln1094Ter)
c.4501C>T (p.Gln1501Ter)
c.3880C>T (p.Gln1294Ter)
c.4600C>T (p.Gln1534Ter)
c.5098C>T (p.Gln1700Ter)
c.2695C>T (p.Gln899Ter)
2g.237367086G>CCA351188818COL6A3c.4483C>G (p.Gln1495Glu)
c.5101C>G (p.Gln1701Glu)
c.3280C>G (p.Gln1094Glu)
c.4501C>G (p.Gln1501Glu)
c.3880C>G (p.Gln1294Glu)
c.4600C>G (p.Gln1534Glu)
c.5098C>G (p.Gln1700Glu)
c.2695C>G (p.Gln899Glu)
 gnomAD v4
2g.237367086G=CA1337621036COL6A3c.4483C= (p.Gln1495=)
c.5101C= (p.Gln1701=)
c.3280C= (p.Gln1094=)
c.4501C= (p.Gln1501=)
c.3880C= (p.Gln1294=)
c.4600C= (p.Gln1534=)
c.5098C= (p.Gln1700=)
c.2695C= (p.Gln899=)
2g.237367086G>TCA67814596COL6A3c.4483C>A (p.Gln1495Lys)
c.5101C>A (p.Gln1701Lys)
c.3280C>A (p.Gln1094Lys)
c.4501C>A (p.Gln1501Lys)
c.3880C>A (p.Gln1294Lys)
c.4600C>A (p.Gln1534Lys)
c.5098C>A (p.Gln1700Lys)
c.2695C>A (p.Gln899Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.237367087C>ACA351188825COL6A3c.4482G>T (p.Arg1494Ser)
c.5100G>T (p.Arg1700Ser)
c.3279G>T (p.Arg1093Ser)
c.4500G>T (p.Arg1500Ser)
c.3879G>T (p.Arg1293Ser)
c.4599G>T (p.Arg1533Ser)
c.5097G>T (p.Arg1699Ser)
c.2694G>T (p.Arg898Ser)
2g.237367087C=CA1337621037COL6A3c.4482G= (p.Arg1494=)
c.5100G= (p.Arg1700=)
c.3279G= (p.Arg1093=)
c.4500G= (p.Arg1500=)
c.3879G= (p.Arg1293=)
c.4599G= (p.Arg1533=)
c.5097G= (p.Arg1699=)
c.2694G= (p.Arg898=)
2g.237367087C>GCA351188829COL6A3c.4482G>C (p.Arg1494Ser)
c.5100G>C (p.Arg1700Ser)
c.3279G>C (p.Arg1093Ser)
c.4500G>C (p.Arg1500Ser)
c.3879G>C (p.Arg1293Ser)
c.4599G>C (p.Arg1533Ser)
c.5097G>C (p.Arg1699Ser)
c.2694G>C (p.Arg898Ser)
2g.237367087C>TCA147983COL6A3c.4482G>A (p.Arg1494=)
c.5100G>A (p.Arg1700=)
c.3279G>A (p.Arg1093=)
c.4500G>A (p.Arg1500=)
c.3879G>A (p.Arg1293=)
c.4599G>A (p.Arg1533=)
c.5097G>A (p.Arg1699=)
c.2694G>A (p.Arg898=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367088C>ACA351188834COL6A3c.4481G>T (p.Arg1494Met)
c.5099G>T (p.Arg1700Met)
c.3278G>T (p.Arg1093Met)
c.4499G>T (p.Arg1500Met)
c.3878G>T (p.Arg1293Met)
c.4598G>T (p.Arg1533Met)
c.5096G>T (p.Arg1699Met)
c.2693G>T (p.Arg898Met)
2g.237367088C=CA1337621038COL6A3c.4481G= (p.Arg1494=)
c.5099G= (p.Arg1700=)
c.3278G= (p.Arg1093=)
c.4499G= (p.Arg1500=)
c.3878G= (p.Arg1293=)
c.4598G= (p.Arg1533=)
c.5096G= (p.Arg1699=)
c.2693G= (p.Arg898=)
2g.237367088C>GCA351188836COL6A3c.4481G>C (p.Arg1494Thr)
c.5099G>C (p.Arg1700Thr)
c.3278G>C (p.Arg1093Thr)
c.4499G>C (p.Arg1500Thr)
c.3878G>C (p.Arg1293Thr)
c.4598G>C (p.Arg1533Thr)
c.5096G>C (p.Arg1699Thr)
c.2693G>C (p.Arg898Thr)
2g.237367088C>TCA351188839COL6A3c.4481G>A (p.Arg1494Lys)
c.5099G>A (p.Arg1700Lys)
c.3278G>A (p.Arg1093Lys)
c.4499G>A (p.Arg1500Lys)
c.3878G>A (p.Arg1293Lys)
c.4598G>A (p.Arg1533Lys)
c.5096G>A (p.Arg1699Lys)
c.2693G>A (p.Arg898Lys)
 dbSNP gnomAD v4
2g.237367089T>ACA351188842COL6A3c.4480A>T (p.Arg1494Trp)
c.5098A>T (p.Arg1700Trp)
c.3277A>T (p.Arg1093Trp)
c.4498A>T (p.Arg1500Trp)
c.3877A>T (p.Arg1293Trp)
c.4597A>T (p.Arg1533Trp)
c.5095A>T (p.Arg1699Trp)
c.2692A>T (p.Arg898Trp)
2g.237367089T>CCA2188744COL6A3c.4480A>G (p.Arg1494Gly)
c.5098A>G (p.Arg1700Gly)
c.3277A>G (p.Arg1093Gly)
c.4498A>G (p.Arg1500Gly)
c.3877A>G (p.Arg1293Gly)
c.4597A>G (p.Arg1533Gly)
c.5095A>G (p.Arg1699Gly)
c.2692A>G (p.Arg898Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.237367089T>GCA431710944COL6A3c.4480A>C (p.Arg1494=)
c.5098A>C (p.Arg1700=)
c.3277A>C (p.Arg1093=)
c.4498A>C (p.Arg1500=)
c.3877A>C (p.Arg1293=)
c.4597A>C (p.Arg1533=)
c.5095A>C (p.Arg1699=)
c.2692A>C (p.Arg898=)
2g.237367089T=CA1337621039COL6A3c.4480A= (p.Arg1494=)
c.5098A= (p.Arg1700=)
c.3277A= (p.Arg1093=)
c.4498A= (p.Arg1500=)
c.3877A= (p.Arg1293=)
c.4597A= (p.Arg1533=)
c.5095A= (p.Arg1699=)
c.2692A= (p.Arg898=)
2g.237367090C>ACA351188846COL6A3c.4479G>T (p.Lys1493Asn)
c.5097G>T (p.Lys1699Asn)
c.3276G>T (p.Lys1092Asn)
c.4497G>T (p.Lys1499Asn)
c.3876G>T (p.Lys1292Asn)
c.4596G>T (p.Lys1532Asn)
c.5094G>T (p.Lys1698Asn)
c.2691G>T (p.Lys897Asn)
2g.237367090C>GCA351188847COL6A3c.4479G>C (p.Lys1493Asn)
c.5097G>C (p.Lys1699Asn)
c.3276G>C (p.Lys1092Asn)
c.4497G>C (p.Lys1499Asn)
c.3876G>C (p.Lys1292Asn)
c.4596G>C (p.Lys1532Asn)
c.5094G>C (p.Lys1698Asn)
c.2691G>C (p.Lys897Asn)
2g.237367090C>TCA431710947COL6A3c.4479G>A (p.Lys1493=)
c.5097G>A (p.Lys1699=)
c.3276G>A (p.Lys1092=)
c.4497G>A (p.Lys1499=)
c.3876G>A (p.Lys1292=)
c.4596G>A (p.Lys1532=)
c.5094G>A (p.Lys1698=)
c.2691G>A (p.Lys897=)
 gnomAD v4
2g.237367091T>ACA351188849COL6A3c.4478A>T (p.Lys1493Met)
c.5096A>T (p.Lys1699Met)
c.3275A>T (p.Lys1092Met)
c.4496A>T (p.Lys1499Met)
c.3875A>T (p.Lys1292Met)
c.4595A>T (p.Lys1532Met)
c.5093A>T (p.Lys1698Met)
c.2690A>T (p.Lys897Met)
2g.237367091T>CCA351188853COL6A3c.4478A>G (p.Lys1493Arg)
c.5096A>G (p.Lys1699Arg)
c.3275A>G (p.Lys1092Arg)
c.4496A>G (p.Lys1499Arg)
c.3875A>G (p.Lys1292Arg)
c.4595A>G (p.Lys1532Arg)
c.5093A>G (p.Lys1698Arg)
c.2690A>G (p.Lys897Arg)
2g.237367091T>GCA351188856COL6A3c.4478A>C (p.Lys1493Thr)
c.5096A>C (p.Lys1699Thr)
c.3275A>C (p.Lys1092Thr)
c.4496A>C (p.Lys1499Thr)
c.3875A>C (p.Lys1292Thr)
c.4595A>C (p.Lys1532Thr)
c.5093A>C (p.Lys1698Thr)
c.2690A>C (p.Lys897Thr)
2g.237367092delCA2577290091COL6A3c.4478del (p.Lys1493ArgfsTer30)
c.5096del (p.Lys1699ArgfsTer30)
c.3275del (p.Lys1092ArgfsTer30)
c.4496del (p.Lys1499ArgfsTer30)
c.3875del (p.Lys1292ArgfsTer30)
c.4595del (p.Lys1532ArgfsTer30)
c.5093del (p.Lys1698ArgfsTer30)
c.2690del (p.Lys897ArgfsTer30)
2g.237367092T>ACA351188863COL6A3c.4477A>T (p.Lys1493Ter)
c.5095A>T (p.Lys1699Ter)
c.3274A>T (p.Lys1092Ter)
c.4495A>T (p.Lys1499Ter)
c.3874A>T (p.Lys1292Ter)
c.4594A>T (p.Lys1532Ter)
c.5092A>T (p.Lys1698Ter)
c.2689A>T (p.Lys897Ter)
2g.237367092T>CCA351188867COL6A3c.4477A>G (p.Lys1493Glu)
c.5095A>G (p.Lys1699Glu)
c.3274A>G (p.Lys1092Glu)
c.4495A>G (p.Lys1499Glu)
c.3874A>G (p.Lys1292Glu)
c.4594A>G (p.Lys1532Glu)
c.5092A>G (p.Lys1698Glu)
c.2689A>G (p.Lys897Glu)
 gnomAD v4
2g.237367092T>GCA351188869COL6A3c.4477A>C (p.Lys1493Gln)
c.5095A>C (p.Lys1699Gln)
c.3274A>C (p.Lys1092Gln)
c.4495A>C (p.Lys1499Gln)
c.3874A>C (p.Lys1292Gln)
c.4594A>C (p.Lys1532Gln)
c.5092A>C (p.Lys1698Gln)
c.2689A>C (p.Lys897Gln)
 ClinVar dbSNP gnomAD v2
2g.237367092T=CA1337621040COL6A3c.4477A= (p.Lys1493=)
c.5095A= (p.Lys1699=)
c.3274A= (p.Lys1092=)
c.4495A= (p.Lys1499=)
c.3874A= (p.Lys1292=)
c.4594A= (p.Lys1532=)
c.5092A= (p.Lys1698=)
c.2689A= (p.Lys897=)
2g.237367093G>ACA431710953COL6A3c.4476C>T (p.Thr1492=)
c.5094C>T (p.Thr1698=)
c.3273C>T (p.Thr1091=)
c.4494C>T (p.Thr1498=)
c.3873C>T (p.Thr1291=)
c.4593C>T (p.Thr1531=)
c.5091C>T (p.Thr1697=)
c.2688C>T (p.Thr896=)
 dbSNP gnomAD v4
2g.237367093G>CCA431710955COL6A3c.4476C>G (p.Thr1492=)
c.5094C>G (p.Thr1698=)
c.3273C>G (p.Thr1091=)
c.4494C>G (p.Thr1498=)
c.3873C>G (p.Thr1291=)
c.4593C>G (p.Thr1531=)
c.5091C>G (p.Thr1697=)
c.2688C>G (p.Thr896=)
2g.237367093G=CA1337621041COL6A3c.4476C= (p.Thr1492=)
c.5094C= (p.Thr1698=)
c.3273C= (p.Thr1091=)
c.4494C= (p.Thr1498=)
c.3873C= (p.Thr1291=)
c.4593C= (p.Thr1531=)
c.5091C= (p.Thr1697=)
c.2688C= (p.Thr896=)
2g.237367093G>TCA431710957COL6A3c.4476C>A (p.Thr1492=)
c.5094C>A (p.Thr1698=)
c.3273C>A (p.Thr1091=)
c.4494C>A (p.Thr1498=)
c.3873C>A (p.Thr1291=)
c.4593C>A (p.Thr1531=)
c.5091C>A (p.Thr1697=)
c.2688C>A (p.Thr896=)
2g.237367094G>ACA351188874COL6A3c.4475C>T (p.Thr1492Ile)
c.5093C>T (p.Thr1698Ile)
c.3272C>T (p.Thr1091Ile)
c.4493C>T (p.Thr1498Ile)
c.3872C>T (p.Thr1291Ile)
c.4592C>T (p.Thr1531Ile)
c.5090C>T (p.Thr1697Ile)
c.2687C>T (p.Thr896Ile)
 gnomAD v4
2g.237367094G>CCA351188875COL6A3c.4475C>G (p.Thr1492Ser)
c.5093C>G (p.Thr1698Ser)
c.3272C>G (p.Thr1091Ser)
c.4493C>G (p.Thr1498Ser)
c.3872C>G (p.Thr1291Ser)
c.4592C>G (p.Thr1531Ser)
c.5090C>G (p.Thr1697Ser)
c.2687C>G (p.Thr896Ser)
2g.237367094G>TCA351188876COL6A3c.4475C>A (p.Thr1492Asn)
c.5093C>A (p.Thr1698Asn)
c.3272C>A (p.Thr1091Asn)
c.4493C>A (p.Thr1498Asn)
c.3872C>A (p.Thr1291Asn)
c.4592C>A (p.Thr1531Asn)
c.5090C>A (p.Thr1697Asn)
c.2687C>A (p.Thr896Asn)
2g.237367095T>ACA351188878COL6A3c.4474A>T (p.Thr1492Ser)
c.5092A>T (p.Thr1698Ser)
c.3271A>T (p.Thr1091Ser)
c.4492A>T (p.Thr1498Ser)
c.3871A>T (p.Thr1291Ser)
c.4591A>T (p.Thr1531Ser)
c.5089A>T (p.Thr1697Ser)
c.2686A>T (p.Thr896Ser)
2g.237367095T>CCA2188745COL6A3c.4474A>G (p.Thr1492Ala)
c.5092A>G (p.Thr1698Ala)
c.3271A>G (p.Thr1091Ala)
c.4492A>G (p.Thr1498Ala)
c.3871A>G (p.Thr1291Ala)
c.4591A>G (p.Thr1531Ala)
c.5089A>G (p.Thr1697Ala)
c.2686A>G (p.Thr896Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237367095T>GCA351188894COL6A3c.4474A>C (p.Thr1492Pro)
c.5092A>C (p.Thr1698Pro)
c.3271A>C (p.Thr1091Pro)
c.4492A>C (p.Thr1498Pro)
c.3871A>C (p.Thr1291Pro)
c.4591A>C (p.Thr1531Pro)
c.5089A>C (p.Thr1697Pro)
c.2686A>C (p.Thr896Pro)
2g.237367095T=CA1337621042COL6A3c.4474A= (p.Thr1492=)
c.5092A= (p.Thr1698=)
c.3271A= (p.Thr1091=)
c.4492A= (p.Thr1498=)
c.3871A= (p.Thr1291=)
c.4591A= (p.Thr1531=)
c.5089A= (p.Thr1697=)
c.2686A= (p.Thr896=)
2g.237367096A>CCA431710963COL6A3c.4473T>G (p.Ser1491=)
c.5091T>G (p.Ser1697=)
c.3270T>G (p.Ser1090=)
c.4491T>G (p.Ser1497=)
c.3870T>G (p.Ser1290=)
c.4590T>G (p.Ser1530=)
c.5088T>G (p.Ser1696=)
c.2685T>G (p.Ser895=)
2g.237367096A>GCA431710964COL6A3c.4473T>C (p.Ser1491=)
c.5091T>C (p.Ser1697=)
c.3270T>C (p.Ser1090=)
c.4491T>C (p.Ser1497=)
c.3870T>C (p.Ser1290=)
c.4590T>C (p.Ser1530=)
c.5088T>C (p.Ser1696=)
c.2685T>C (p.Ser895=)
 dbSNP gnomAD v4
2g.237367096A>TCA431710968COL6A3c.4473T>A (p.Ser1491=)
c.5091T>A (p.Ser1697=)
c.3270T>A (p.Ser1090=)
c.4491T>A (p.Ser1497=)
c.3870T>A (p.Ser1290=)
c.4590T>A (p.Ser1530=)
c.5088T>A (p.Ser1696=)
c.2685T>A (p.Ser895=)
2g.237367097G>ACA351188898COL6A3c.4472C>T (p.Ser1491Phe)
c.5090C>T (p.Ser1697Phe)
c.3269C>T (p.Ser1090Phe)
c.4490C>T (p.Ser1497Phe)
c.3869C>T (p.Ser1290Phe)
c.4589C>T (p.Ser1530Phe)
c.5087C>T (p.Ser1696Phe)
c.2684C>T (p.Ser895Phe)
 gnomAD v4
2g.237367097G>CCA351188901COL6A3c.4472C>G (p.Ser1491Cys)
c.5090C>G (p.Ser1697Cys)
c.3269C>G (p.Ser1090Cys)
c.4490C>G (p.Ser1497Cys)
c.3869C>G (p.Ser1290Cys)
c.4589C>G (p.Ser1530Cys)
c.5087C>G (p.Ser1696Cys)
c.2684C>G (p.Ser895Cys)
 gnomAD v4
2g.237367097G>TCA351188897COL6A3c.4472C>A (p.Ser1491Tyr)
c.5090C>A (p.Ser1697Tyr)
c.3269C>A (p.Ser1090Tyr)
c.4490C>A (p.Ser1497Tyr)
c.3869C>A (p.Ser1290Tyr)
c.4589C>A (p.Ser1530Tyr)
c.5087C>A (p.Ser1696Tyr)
c.2684C>A (p.Ser895Tyr)
2g.237367098A>CCA351188905COL6A3c.4471T>G (p.Ser1491Ala)
c.5089T>G (p.Ser1697Ala)
c.3268T>G (p.Ser1090Ala)
c.4489T>G (p.Ser1497Ala)
c.3868T>G (p.Ser1290Ala)
c.4588T>G (p.Ser1530Ala)
c.5086T>G (p.Ser1696Ala)
c.2683T>G (p.Ser895Ala)
2g.237367098A>GCA351188911COL6A3c.4471T>C (p.Ser1491Pro)
c.5089T>C (p.Ser1697Pro)
c.3268T>C (p.Ser1090Pro)
c.4489T>C (p.Ser1497Pro)
c.3868T>C (p.Ser1290Pro)
c.4588T>C (p.Ser1530Pro)
c.5086T>C (p.Ser1696Pro)
c.2683T>C (p.Ser895Pro)
 gnomAD v4
2g.237367098A>TCA351188908COL6A3c.4471T>A (p.Ser1491Thr)
c.5089T>A (p.Ser1697Thr)
c.3268T>A (p.Ser1090Thr)
c.4489T>A (p.Ser1497Thr)
c.3868T>A (p.Ser1290Thr)
c.4588T>A (p.Ser1530Thr)
c.5086T>A (p.Ser1696Thr)
c.2683T>A (p.Ser895Thr)
 COSMIC
2g.237367099G>ACA431710975COL6A3c.4470C>T (p.Phe1490=)
c.5088C>T (p.Phe1696=)
c.3267C>T (p.Phe1089=)
c.4488C>T (p.Phe1496=)
c.3867C>T (p.Phe1289=)
c.4587C>T (p.Phe1529=)
c.5085C>T (p.Phe1695=)
c.2682C>T (p.Phe894=)
 COSMIC
2g.237367099G>CCA351188918COL6A3c.4470C>G (p.Phe1490Leu)
c.5088C>G (p.Phe1696Leu)
c.3267C>G (p.Phe1089Leu)
c.4488C>G (p.Phe1496Leu)
c.3867C>G (p.Phe1289Leu)
c.4587C>G (p.Phe1529Leu)
c.5085C>G (p.Phe1695Leu)
c.2682C>G (p.Phe894Leu)
2g.237367099G>TCA351188919COL6A3c.4470C>A (p.Phe1490Leu)
c.5088C>A (p.Phe1696Leu)
c.3267C>A (p.Phe1089Leu)
c.4488C>A (p.Phe1496Leu)
c.3867C>A (p.Phe1289Leu)
c.4587C>A (p.Phe1529Leu)
c.5085C>A (p.Phe1695Leu)
c.2682C>A (p.Phe894Leu)
 gnomAD v4
2g.237367100A>CCA351188923COL6A3c.4469T>G (p.Phe1490Cys)
c.5087T>G (p.Phe1696Cys)
c.3266T>G (p.Phe1089Cys)
c.4487T>G (p.Phe1496Cys)
c.3866T>G (p.Phe1289Cys)
c.4586T>G (p.Phe1529Cys)
c.5084T>G (p.Phe1695Cys)
c.2681T>G (p.Phe894Cys)
2g.237367100A>GCA351188926COL6A3c.4469T>C (p.Phe1490Ser)
c.5087T>C (p.Phe1696Ser)
c.3266T>C (p.Phe1089Ser)
c.4487T>C (p.Phe1496Ser)
c.3866T>C (p.Phe1289Ser)
c.4586T>C (p.Phe1529Ser)
c.5084T>C (p.Phe1695Ser)
c.2681T>C (p.Phe894Ser)
2g.237367100A>TCA351188930COL6A3c.4469T>A (p.Phe1490Tyr)
c.5087T>A (p.Phe1696Tyr)
c.3266T>A (p.Phe1089Tyr)
c.4487T>A (p.Phe1496Tyr)
c.3866T>A (p.Phe1289Tyr)
c.4586T>A (p.Phe1529Tyr)
c.5084T>A (p.Phe1695Tyr)
c.2681T>A (p.Phe894Tyr)
2g.237367101A=CA1337621043COL6A3c.4468T= (p.Phe1490=)
c.5086T= (p.Phe1696=)
c.3265T= (p.Phe1089=)
c.4486T= (p.Phe1496=)
c.3865T= (p.Phe1289=)
c.4585T= (p.Phe1529=)
c.5083T= (p.Phe1695=)
c.2680T= (p.Phe894=)
2g.237367101A>CCA351188934COL6A3c.4468T>G (p.Phe1490Val)
c.5086T>G (p.Phe1696Val)
c.3265T>G (p.Phe1089Val)
c.4486T>G (p.Phe1496Val)
c.3865T>G (p.Phe1289Val)
c.4585T>G (p.Phe1529Val)
c.5083T>G (p.Phe1695Val)
c.2680T>G (p.Phe894Val)
2g.237367101A>GCA351188935COL6A3c.4468T>C (p.Phe1490Leu)
c.5086T>C (p.Phe1696Leu)
c.3265T>C (p.Phe1089Leu)
c.4486T>C (p.Phe1496Leu)
c.3865T>C (p.Phe1289Leu)
c.4585T>C (p.Phe1529Leu)
c.5083T>C (p.Phe1695Leu)
c.2680T>C (p.Phe894Leu)
2g.237367101A>TCA351188936COL6A3c.4468T>A (p.Phe1490Ile)
c.5086T>A (p.Phe1696Ile)
c.3265T>A (p.Phe1089Ile)
c.4486T>A (p.Phe1496Ile)
c.3865T>A (p.Phe1289Ile)
c.4585T>A (p.Phe1529Ile)
c.5083T>A (p.Phe1695Ile)
c.2680T>A (p.Phe894Ile)
 ClinVar dbSNP gnomAD v4
2g.237367102G>ACA431710978COL6A3c.4467C>T (p.Asp1489=)
c.5085C>T (p.Asp1695=)
c.3264C>T (p.Asp1088=)
c.4485C>T (p.Asp1495=)
c.3864C>T (p.Asp1288=)
c.4584C>T (p.Asp1528=)
c.5082C>T (p.Asp1694=)
c.2679C>T (p.Asp893=)
 gnomAD v4
2g.237367102G>CCA10606449COL6A3c.4467C>G (p.Asp1489Glu)
c.5085C>G (p.Asp1695Glu)
c.3264C>G (p.Asp1088Glu)
c.4485C>G (p.Asp1495Glu)
c.3864C>G (p.Asp1288Glu)
c.4584C>G (p.Asp1528Glu)
c.5082C>G (p.Asp1694Glu)
c.2679C>G (p.Asp893Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237367102G=CA1337621044COL6A3c.4467C= (p.Asp1489=)
c.5085C= (p.Asp1695=)
c.3264C= (p.Asp1088=)
c.4485C= (p.Asp1495=)
c.3864C= (p.Asp1288=)
c.4584C= (p.Asp1528=)
c.5082C= (p.Asp1694=)
c.2679C= (p.Asp893=)
2g.237367102G>TCA351188941COL6A3c.4467C>A (p.Asp1489Glu)
c.5085C>A (p.Asp1695Glu)
c.3264C>A (p.Asp1088Glu)
c.4485C>A (p.Asp1495Glu)
c.3864C>A (p.Asp1288Glu)
c.4584C>A (p.Asp1528Glu)
c.5082C>A (p.Asp1694Glu)
c.2679C>A (p.Asp893Glu)
2g.237367103T>ACA2188746COL6A3c.4466A>T (p.Asp1489Val)
c.414A>T
c.5084A>T (p.Asp1695Val)
c.3263A>T (p.Asp1088Val)
c.4484A>T (p.Asp1495Val)
c.3863A>T (p.Asp1288Val)
c.4583A>T (p.Asp1528Val)
c.5081A>T (p.Asp1694Val)
c.2678A>T (p.Asp893Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237367103T>CCA351188949COL6A3c.4466A>G (p.Asp1489Gly)
c.414A>G
c.5084A>G (p.Asp1695Gly)
c.3263A>G (p.Asp1088Gly)
c.4484A>G (p.Asp1495Gly)
c.3863A>G (p.Asp1288Gly)
c.4583A>G (p.Asp1528Gly)
c.5081A>G (p.Asp1694Gly)
c.2678A>G (p.Asp893Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237367103T>GCA351188951COL6A3c.4466A>C (p.Asp1489Ala)
c.414A>C
c.5084A>C (p.Asp1695Ala)
c.3263A>C (p.Asp1088Ala)
c.4484A>C (p.Asp1495Ala)
c.3863A>C (p.Asp1288Ala)
c.4583A>C (p.Asp1528Ala)
c.5081A>C (p.Asp1694Ala)
c.2678A>C (p.Asp893Ala)
2g.237367103T=CA1337621045COL6A3c.4466A= (p.Asp1489=)
c.414A=
c.5084A= (p.Asp1695=)
c.3263A= (p.Asp1088=)
c.4484A= (p.Asp1495=)
c.3863A= (p.Asp1288=)
c.4583A= (p.Asp1528=)
c.5081A= (p.Asp1694=)
c.2678A= (p.Asp893=)
2g.237367104C>ACA351188960COL6A3c.4465G>T (p.Asp1489Tyr)
c.413G>T
c.5083G>T (p.Asp1695Tyr)
c.3262G>T (p.Asp1088Tyr)
c.4483G>T (p.Asp1495Tyr)
c.3862G>T (p.Asp1288Tyr)
c.4582G>T (p.Asp1528Tyr)
c.5080G>T (p.Asp1694Tyr)
c.2677G>T (p.Asp893Tyr)
2g.237367104C=CA1337621046COL6A3c.4465G= (p.Asp1489=)
c.413G=
c.5083G= (p.Asp1695=)
c.3262G= (p.Asp1088=)
c.4483G= (p.Asp1495=)
c.3862G= (p.Asp1288=)
c.4582G= (p.Asp1528=)
c.5080G= (p.Asp1694=)
c.2677G= (p.Asp893=)
2g.237367104C>GCA67814617COL6A3c.4465G>C (p.Asp1489His)
c.413G>C
c.5083G>C (p.Asp1695His)
c.3262G>C (p.Asp1088His)
c.4483G>C (p.Asp1495His)
c.3862G>C (p.Asp1288His)
c.4582G>C (p.Asp1528His)
c.5080G>C (p.Asp1694His)
c.2677G>C (p.Asp893His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237367104C>TCA351188954COL6A3c.4465G>A (p.Asp1489Asn)
c.413G>A
c.5083G>A (p.Asp1695Asn)
c.3262G>A (p.Asp1088Asn)
c.4483G>A (p.Asp1495Asn)
c.3862G>A (p.Asp1288Asn)
c.4582G>A (p.Asp1528Asn)
c.5080G>A (p.Asp1694Asn)
c.2677G>A (p.Asp893Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.237367105C>ACA351188962COL6A3c.4464G>T (p.Lys1488Asn)
c.412G>T
c.5082G>T (p.Lys1694Asn)
c.3261G>T (p.Lys1087Asn)
c.4482G>T (p.Lys1494Asn)
c.3861G>T (p.Lys1287Asn)
c.4581G>T (p.Lys1527Asn)
c.5079G>T (p.Lys1693Asn)
c.2676G>T (p.Lys892Asn)
2g.237367105C=CA1337621047COL6A3c.4464G= (p.Lys1488=)
c.412G=
c.5082G= (p.Lys1694=)
c.3261G= (p.Lys1087=)
c.4482G= (p.Lys1494=)
c.3861G= (p.Lys1287=)
c.4581G= (p.Lys1527=)
c.5079G= (p.Lys1693=)
c.2676G= (p.Lys892=)
2g.237367105C>GCA351188963COL6A3c.4464G>C (p.Lys1488Asn)
c.412G>C
c.5082G>C (p.Lys1694Asn)
c.3261G>C (p.Lys1087Asn)
c.4482G>C (p.Lys1494Asn)
c.3861G>C (p.Lys1287Asn)
c.4581G>C (p.Lys1527Asn)
c.5079G>C (p.Lys1693Asn)
c.2676G>C (p.Lys892Asn)
2g.237367105C>TCA2188747COL6A3c.4464G>A (p.Lys1488=)
c.412G>A
c.5082G>A (p.Lys1694=)
c.3261G>A (p.Lys1087=)
c.4482G>A (p.Lys1494=)
c.3861G>A (p.Lys1287=)
c.4581G>A (p.Lys1527=)
c.5079G>A (p.Lys1693=)
c.2676G>A (p.Lys892=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237367106T>ACA351188967COL6A3c.4463A>T (p.Lys1488Met)
c.411A>T
c.5081A>T (p.Lys1694Met)
c.3260A>T (p.Lys1087Met)
c.4481A>T (p.Lys1494Met)
c.3860A>T (p.Lys1287Met)
c.4580A>T (p.Lys1527Met)
c.5078A>T (p.Lys1693Met)
c.2675A>T (p.Lys892Met)
2g.237367106T>CCA351188972COL6A3c.4463A>G (p.Lys1488Arg)
c.411A>G
c.5081A>G (p.Lys1694Arg)
c.3260A>G (p.Lys1087Arg)
c.4481A>G (p.Lys1494Arg)
c.3860A>G (p.Lys1287Arg)
c.4580A>G (p.Lys1527Arg)
c.5078A>G (p.Lys1693Arg)
c.2675A>G (p.Lys892Arg)
 gnomAD v4
2g.237367106T>GCA351188983COL6A3c.4463A>C (p.Lys1488Thr)
c.411A>C
c.5081A>C (p.Lys1694Thr)
c.3260A>C (p.Lys1087Thr)
c.4481A>C (p.Lys1494Thr)
c.3860A>C (p.Lys1287Thr)
c.4580A>C (p.Lys1527Thr)
c.5078A>C (p.Lys1693Thr)
c.2675A>C (p.Lys892Thr)
2g.237367107T>ACA351188987COL6A3c.4462A>T (p.Lys1488Ter)
c.410A>T
c.5080A>T (p.Lys1694Ter)
c.3259A>T (p.Lys1087Ter)
c.4480A>T (p.Lys1494Ter)
c.3859A>T (p.Lys1287Ter)
c.4579A>T (p.Lys1527Ter)
c.5077A>T (p.Lys1693Ter)
c.2674A>T (p.Lys892Ter)
2g.237367107T>CCA351188994COL6A3c.4462A>G (p.Lys1488Glu)
c.410A>G
c.5080A>G (p.Lys1694Glu)
c.3259A>G (p.Lys1087Glu)
c.4480A>G (p.Lys1494Glu)
c.3859A>G (p.Lys1287Glu)
c.4579A>G (p.Lys1527Glu)
c.5077A>G (p.Lys1693Glu)
c.2674A>G (p.Lys892Glu)
2g.237367107T>GCA351188999COL6A3c.4462A>C (p.Lys1488Gln)
c.410A>C
c.5080A>C (p.Lys1694Gln)
c.3259A>C (p.Lys1087Gln)
c.4480A>C (p.Lys1494Gln)
c.3859A>C (p.Lys1287Gln)
c.4579A>C (p.Lys1527Gln)
c.5077A>C (p.Lys1693Gln)
c.2674A>C (p.Lys892Gln)
2g.237367108C>ACA431710989COL6A3c.4461G>T (p.Leu1487=)
c.409G>T
c.5079G>T (p.Leu1693=)
c.3258G>T (p.Leu1086=)
c.4479G>T (p.Leu1493=)
c.3858G>T (p.Leu1286=)
c.4578G>T (p.Leu1526=)
c.5076G>T (p.Leu1692=)
c.2673G>T (p.Leu891=)
2g.237367108C=CA1337621048COL6A3c.4461G= (p.Leu1487=)
c.409G=
c.5079G= (p.Leu1693=)
c.3258G= (p.Leu1086=)
c.4479G= (p.Leu1493=)
c.3858G= (p.Leu1286=)
c.4578G= (p.Leu1526=)
c.5076G= (p.Leu1692=)
c.2673G= (p.Leu891=)
2g.237367108C>GCA431710991COL6A3c.4461G>C (p.Leu1487=)
c.409G>C
c.5079G>C (p.Leu1693=)
c.3258G>C (p.Leu1086=)
c.4479G>C (p.Leu1493=)
c.3858G>C (p.Leu1286=)
c.4578G>C (p.Leu1526=)
c.5076G>C (p.Leu1692=)
c.2673G>C (p.Leu891=)
 gnomAD v4
2g.237367108C>TCA67814622COL6A3c.4461G>A (p.Leu1487=)
c.409G>A
c.5079G>A (p.Leu1693=)
c.3258G>A (p.Leu1086=)
c.4479G>A (p.Leu1493=)
c.3858G>A (p.Leu1286=)
c.4578G>A (p.Leu1526=)
c.5076G>A (p.Leu1692=)
c.2673G>A (p.Leu891=)
 dbSNP
2g.237367109A=CA1337621049COL6A3c.4460T= (p.Leu1487=)
c.408T=
c.5078T= (p.Leu1693=)
c.3257T= (p.Leu1086=)
c.4478T= (p.Leu1493=)
c.3857T= (p.Leu1286=)
c.4577T= (p.Leu1526=)
c.5075T= (p.Leu1692=)
c.2672T= (p.Leu891=)
2g.237367109A>CCA351189021COL6A3c.4460T>G (p.Leu1487Arg)
c.408T>G
c.5078T>G (p.Leu1693Arg)
c.3257T>G (p.Leu1086Arg)
c.4478T>G (p.Leu1493Arg)
c.3857T>G (p.Leu1286Arg)
c.4577T>G (p.Leu1526Arg)
c.5075T>G (p.Leu1692Arg)
c.2672T>G (p.Leu891Arg)
2g.237367109A>GCA2188748COL6A3c.4460T>C (p.Leu1487Pro)
c.408T>C
c.5078T>C (p.Leu1693Pro)
c.3257T>C (p.Leu1086Pro)
c.4478T>C (p.Leu1493Pro)
c.3857T>C (p.Leu1286Pro)
c.4577T>C (p.Leu1526Pro)
c.5075T>C (p.Leu1692Pro)
c.2672T>C (p.Leu891Pro)
 ClinVar dbSNP ExAC
2g.237367109A>TCA351189027COL6A3c.4460T>A (p.Leu1487Gln)
c.408T>A
c.5078T>A (p.Leu1693Gln)
c.3257T>A (p.Leu1086Gln)
c.4478T>A (p.Leu1493Gln)
c.3857T>A (p.Leu1286Gln)
c.4577T>A (p.Leu1526Gln)
c.5075T>A (p.Leu1692Gln)
c.2672T>A (p.Leu891Gln)
2g.237367110G>ACA431710995COL6A3c.4459C>T (p.Leu1487=)
c.407C>T
c.5077C>T (p.Leu1693=)
c.3256C>T (p.Leu1086=)
c.4477C>T (p.Leu1493=)
c.3856C>T (p.Leu1286=)
c.4576C>T (p.Leu1526=)
c.5074C>T (p.Leu1692=)
c.2671C>T (p.Leu891=)
2g.237367110G>CCA351189031COL6A3c.4459C>G (p.Leu1487Val)
c.407C>G
c.5077C>G (p.Leu1693Val)
c.3256C>G (p.Leu1086Val)
c.4477C>G (p.Leu1493Val)
c.3856C>G (p.Leu1286Val)
c.4576C>G (p.Leu1526Val)
c.5074C>G (p.Leu1692Val)
c.2671C>G (p.Leu891Val)
2g.237367110G>TCA351189032COL6A3c.4459C>A (p.Leu1487Met)
c.407C>A
c.5077C>A (p.Leu1693Met)
c.3256C>A (p.Leu1086Met)
c.4477C>A (p.Leu1493Met)
c.3856C>A (p.Leu1286Met)
c.4576C>A (p.Leu1526Met)
c.5074C>A (p.Leu1692Met)
c.2671C>A (p.Leu891Met)
2g.237367111G>ACA431711003COL6A3c.4458C>T (p.Phe1486=)
c.406C>T
c.5076C>T (p.Phe1692=)
c.3255C>T (p.Phe1085=)
c.4476C>T (p.Phe1492=)
c.3855C>T (p.Phe1285=)
c.4575C>T (p.Phe1525=)
c.5073C>T (p.Phe1691=)
c.2670C>T (p.Phe890=)
2g.237367111G>CCA351189037COL6A3c.4458C>G (p.Phe1486Leu)
c.406C>G
c.5076C>G (p.Phe1692Leu)
c.3255C>G (p.Phe1085Leu)
c.4476C>G (p.Phe1492Leu)
c.3855C>G (p.Phe1285Leu)
c.4575C>G (p.Phe1525Leu)
c.5073C>G (p.Phe1691Leu)
c.2670C>G (p.Phe890Leu)
2g.237367111G>TCA351189041COL6A3c.4458C>A (p.Phe1486Leu)
c.406C>A
c.5076C>A (p.Phe1692Leu)
c.3255C>A (p.Phe1085Leu)
c.4476C>A (p.Phe1492Leu)
c.3855C>A (p.Phe1285Leu)
c.4575C>A (p.Phe1525Leu)
c.5073C>A (p.Phe1691Leu)
c.2670C>A (p.Phe890Leu)
2g.237367112A>CCA351189047COL6A3c.4457T>G (p.Phe1486Cys)
c.405T>G
c.5075T>G (p.Phe1692Cys)
c.3254T>G (p.Phe1085Cys)
c.4475T>G (p.Phe1492Cys)
c.3854T>G (p.Phe1285Cys)
c.4574T>G (p.Phe1525Cys)
c.5072T>G (p.Phe1691Cys)
c.2669T>G (p.Phe890Cys)
2g.237367112A>GCA351189051COL6A3c.4457T>C (p.Phe1486Ser)
c.405T>C
c.5075T>C (p.Phe1692Ser)
c.3254T>C (p.Phe1085Ser)
c.4475T>C (p.Phe1492Ser)
c.3854T>C (p.Phe1285Ser)
c.4574T>C (p.Phe1525Ser)
c.5072T>C (p.Phe1691Ser)
c.2669T>C (p.Phe890Ser)
2g.237367112A>TCA351189054COL6A3c.4457T>A (p.Phe1486Tyr)
c.405T>A
c.5075T>A (p.Phe1692Tyr)
c.3254T>A (p.Phe1085Tyr)
c.4475T>A (p.Phe1492Tyr)
c.3854T>A (p.Phe1285Tyr)
c.4574T>A (p.Phe1525Tyr)
c.5072T>A (p.Phe1691Tyr)
c.2669T>A (p.Phe890Tyr)
2g.237367113A=CA1337621050COL6A3c.4456T= (p.Phe1486=)
c.404T=
c.5074T= (p.Phe1692=)
c.3253T= (p.Phe1085=)
c.4474T= (p.Phe1492=)
c.3853T= (p.Phe1285=)
c.4573T= (p.Phe1525=)
c.5071T= (p.Phe1691=)
c.2668T= (p.Phe890=)
2g.237367113A>CCA351189067COL6A3c.4456T>G (p.Phe1486Val)
c.404T>G
c.5074T>G (p.Phe1692Val)
c.3253T>G (p.Phe1085Val)
c.4474T>G (p.Phe1492Val)
c.3853T>G (p.Phe1285Val)
c.4573T>G (p.Phe1525Val)
c.5071T>G (p.Phe1691Val)
c.2668T>G (p.Phe890Val)
2g.237367113A>GCA351189072COL6A3c.4456T>C (p.Phe1486Leu)
c.404T>C
c.5074T>C (p.Phe1692Leu)
c.3253T>C (p.Phe1085Leu)
c.4474T>C (p.Phe1492Leu)
c.3853T>C (p.Phe1285Leu)
c.4573T>C (p.Phe1525Leu)
c.5071T>C (p.Phe1691Leu)
c.2668T>C (p.Phe890Leu)
2g.237367113A>TCA351189077COL6A3c.4456T>A (p.Phe1486Ile)
c.404T>A
c.5074T>A (p.Phe1692Ile)
c.3253T>A (p.Phe1085Ile)
c.4474T>A (p.Phe1492Ile)
c.3853T>A (p.Phe1285Ile)
c.4573T>A (p.Phe1525Ile)
c.5071T>A (p.Phe1691Ile)
c.2668T>A (p.Phe890Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.237367114G>ACA431711008COL6A3c.4455C>T (p.Phe1485=)
c.403C>T
c.5073C>T (p.Phe1691=)
c.3252C>T (p.Phe1084=)
c.4473C>T (p.Phe1491=)
c.3852C>T (p.Phe1284=)
c.4572C>T (p.Phe1524=)
c.5070C>T (p.Phe1690=)
c.2667C>T (p.Phe889=)
2g.237367114G>CCA351189081COL6A3c.4455C>G (p.Phe1485Leu)
c.403C>G
c.5073C>G (p.Phe1691Leu)
c.3252C>G (p.Phe1084Leu)
c.4473C>G (p.Phe1491Leu)
c.3852C>G (p.Phe1284Leu)
c.4572C>G (p.Phe1524Leu)
c.5070C>G (p.Phe1690Leu)
c.2667C>G (p.Phe889Leu)
2g.237367114G>TCA351189087COL6A3c.4455C>A (p.Phe1485Leu)
c.403C>A
c.5073C>A (p.Phe1691Leu)
c.3252C>A (p.Phe1084Leu)
c.4473C>A (p.Phe1491Leu)
c.3852C>A (p.Phe1284Leu)
c.4572C>A (p.Phe1524Leu)
c.5070C>A (p.Phe1690Leu)
c.2667C>A (p.Phe889Leu)
2g.237367115A>CCA351189096COL6A3c.4454T>G (p.Phe1485Cys)
c.402T>G
c.5072T>G (p.Phe1691Cys)
c.3251T>G (p.Phe1084Cys)
c.4472T>G (p.Phe1491Cys)
c.3851T>G (p.Phe1284Cys)
c.4571T>G (p.Phe1524Cys)
c.5069T>G (p.Phe1690Cys)
c.2666T>G (p.Phe889Cys)
2g.237367115A>GCA351189101COL6A3c.4454T>C (p.Phe1485Ser)
c.402T>C
c.5072T>C (p.Phe1691Ser)
c.3251T>C (p.Phe1084Ser)
c.4472T>C (p.Phe1491Ser)
c.3851T>C (p.Phe1284Ser)
c.4571T>C (p.Phe1524Ser)
c.5069T>C (p.Phe1690Ser)
c.2666T>C (p.Phe889Ser)
2g.237367115A>TCA351189105COL6A3c.4454T>A (p.Phe1485Tyr)
c.402T>A
c.5072T>A (p.Phe1691Tyr)
c.3251T>A (p.Phe1084Tyr)
c.4472T>A (p.Phe1491Tyr)
c.3851T>A (p.Phe1284Tyr)
c.4571T>A (p.Phe1524Tyr)
c.5069T>A (p.Phe1690Tyr)
c.2666T>A (p.Phe889Tyr)
2g.237367116A>CCA351189108COL6A3c.4453T>G (p.Phe1485Val)
c.401T>G
c.5071T>G (p.Phe1691Val)
c.3250T>G (p.Phe1084Val)
c.4471T>G (p.Phe1491Val)
c.3850T>G (p.Phe1284Val)
c.4570T>G (p.Phe1524Val)
c.5068T>G (p.Phe1690Val)
c.2665T>G (p.Phe889Val)
2g.237367116A>GCA351189106COL6A3c.4453T>C (p.Phe1485Leu)
c.401T>C
c.5071T>C (p.Phe1691Leu)
c.3250T>C (p.Phe1084Leu)
c.4471T>C (p.Phe1491Leu)
c.3850T>C (p.Phe1284Leu)
c.4570T>C (p.Phe1524Leu)
c.5068T>C (p.Phe1690Leu)
c.2665T>C (p.Phe889Leu)
2g.237367116A>TCA351189107COL6A3c.4453T>A (p.Phe1485Ile)
c.401T>A
c.5071T>A (p.Phe1691Ile)
c.3250T>A (p.Phe1084Ile)
c.4471T>A (p.Phe1491Ile)
c.3850T>A (p.Phe1284Ile)
c.4570T>A (p.Phe1524Ile)
c.5068T>A (p.Phe1690Ile)
c.2665T>A (p.Phe889Ile)
2g.237367117T>ACA351189111COL6A3c.4452A>T (p.Glu1484Asp)
c.400A>T
c.5070A>T (p.Glu1690Asp)
c.3249A>T (p.Glu1083Asp)
c.4470A>T (p.Glu1490Asp)
c.3849A>T (p.Glu1283Asp)
c.4569A>T (p.Glu1523Asp)
c.5067A>T (p.Glu1689Asp)
c.2664A>T (p.Glu888Asp)
2g.237367117T>CCA431711018COL6A3c.4452A>G (p.Glu1484=)
c.400A>G
c.5070A>G (p.Glu1690=)
c.3249A>G (p.Glu1083=)
c.4470A>G (p.Glu1490=)
c.3849A>G (p.Glu1283=)
c.4569A>G (p.Glu1523=)
c.5067A>G (p.Glu1689=)
c.2664A>G (p.Glu888=)
 dbSNP gnomAD v3 gnomAD v4
2g.237367117T>GCA351189113COL6A3c.4452A>C (p.Glu1484Asp)
c.400A>C
c.5070A>C (p.Glu1690Asp)
c.3249A>C (p.Glu1083Asp)
c.4470A>C (p.Glu1490Asp)
c.3849A>C (p.Glu1283Asp)
c.4569A>C (p.Glu1523Asp)
c.5067A>C (p.Glu1689Asp)
c.2664A>C (p.Glu888Asp)
2g.237367117T=CA1337621051COL6A3c.4452A= (p.Glu1484=)
c.400A=
c.5070A= (p.Glu1690=)
c.3249A= (p.Glu1083=)
c.4470A= (p.Glu1490=)
c.3849A= (p.Glu1283=)
c.4569A= (p.Glu1523=)
c.5067A= (p.Glu1689=)
c.2664A= (p.Glu888=)
2g.237367118T>ACA351189116COL6A3c.4451A>T (p.Glu1484Val)
c.399A>T
c.5069A>T (p.Glu1690Val)
c.3248A>T (p.Glu1083Val)
c.4469A>T (p.Glu1490Val)
c.3848A>T (p.Glu1283Val)
c.4568A>T (p.Glu1523Val)
c.5066A>T (p.Glu1689Val)
c.2663A>T (p.Glu888Val)
2g.237367118T>CCA351189118COL6A3c.4451A>G (p.Glu1484Gly)
c.399A>G
c.5069A>G (p.Glu1690Gly)
c.3248A>G (p.Glu1083Gly)
c.4469A>G (p.Glu1490Gly)
c.3848A>G (p.Glu1283Gly)
c.4568A>G (p.Glu1523Gly)
c.5066A>G (p.Glu1689Gly)
c.2663A>G (p.Glu888Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237367118T>GCA351189120COL6A3c.4451A>C (p.Glu1484Ala)
c.399A>C
c.5069A>C (p.Glu1690Ala)
c.3248A>C (p.Glu1083Ala)
c.4469A>C (p.Glu1490Ala)
c.3848A>C (p.Glu1283Ala)
c.4568A>C (p.Glu1523Ala)
c.5066A>C (p.Glu1689Ala)
c.2663A>C (p.Glu888Ala)
2g.237367118T=CA1337621052COL6A3c.4451A= (p.Glu1484=)
c.399A=
c.5069A= (p.Glu1690=)
c.3248A= (p.Glu1083=)
c.4469A= (p.Glu1490=)
c.3848A= (p.Glu1283=)
c.4568A= (p.Glu1523=)
c.5066A= (p.Glu1689=)
c.2663A= (p.Glu888=)
2g.237367119C>ACA351189123COL6A3c.4450G>T (p.Glu1484Ter)
c.398G>T
c.5068G>T (p.Glu1690Ter)
c.3247G>T (p.Glu1083Ter)
c.4468G>T (p.Glu1490Ter)
c.3847G>T (p.Glu1283Ter)
c.4567G>T (p.Glu1523Ter)
c.5065G>T (p.Glu1689Ter)
c.2662G>T (p.Glu888Ter)
 gnomAD v4
2g.237367119C=CA1337621053COL6A3c.4450G= (p.Glu1484=)
c.398G=
c.5068G= (p.Glu1690=)
c.3247G= (p.Glu1083=)
c.4468G= (p.Glu1490=)
c.3847G= (p.Glu1283=)
c.4567G= (p.Glu1523=)
c.5065G= (p.Glu1689=)
c.2662G= (p.Glu888=)
2g.237367119C>GCA351189128COL6A3c.4450G>C (p.Glu1484Gln)
c.398G>C
c.5068G>C (p.Glu1690Gln)
c.3247G>C (p.Glu1083Gln)
c.4468G>C (p.Glu1490Gln)
c.3847G>C (p.Glu1283Gln)
c.4567G>C (p.Glu1523Gln)
c.5065G>C (p.Glu1689Gln)
c.2662G>C (p.Glu888Gln)
2g.237367119C>TCA2188749COL6A3c.4450G>A (p.Glu1484Lys)
c.398G>A
c.5068G>A (p.Glu1690Lys)
c.3247G>A (p.Glu1083Lys)
c.4468G>A (p.Glu1490Lys)
c.3847G>A (p.Glu1283Lys)
c.4567G>A (p.Glu1523Lys)
c.5065G>A (p.Glu1689Lys)
c.2662G>A (p.Glu888Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367120G>ACA2188750COL6A3c.4449C>T (p.Asp1483=)
c.397C>T
c.5067C>T (p.Asp1689=)
c.3246C>T (p.Asp1082=)
c.4467C>T (p.Asp1489=)
c.3846C>T (p.Asp1282=)
c.4566C>T (p.Asp1522=)
c.5064C>T (p.Asp1688=)
c.2661C>T (p.Asp887=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367120G>CCA351189132COL6A3c.4449C>G (p.Asp1483Glu)
c.397C>G
c.5067C>G (p.Asp1689Glu)
c.3246C>G (p.Asp1082Glu)
c.4467C>G (p.Asp1489Glu)
c.3846C>G (p.Asp1282Glu)
c.4566C>G (p.Asp1522Glu)
c.5064C>G (p.Asp1688Glu)
c.2661C>G (p.Asp887Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.237367120G=CA1337621054COL6A3c.4449C= (p.Asp1483=)
c.397C=
c.5067C= (p.Asp1689=)
c.3246C= (p.Asp1082=)
c.4467C= (p.Asp1489=)
c.3846C= (p.Asp1282=)
c.4566C= (p.Asp1522=)
c.5064C= (p.Asp1688=)
c.2661C= (p.Asp887=)
2g.237367120G>TCA67814649COL6A3c.4449C>A (p.Asp1483Glu)
c.397C>A
c.5067C>A (p.Asp1689Glu)
c.3246C>A (p.Asp1082Glu)
c.4467C>A (p.Asp1489Glu)
c.3846C>A (p.Asp1282Glu)
c.4566C>A (p.Asp1522Glu)
c.5064C>A (p.Asp1688Glu)
c.2661C>A (p.Asp887Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237367121T>ACA351189151COL6A3c.4448A>T (p.Asp1483Val)
c.396A>T
c.5066A>T (p.Asp1689Val)
c.3245A>T (p.Asp1082Val)
c.4466A>T (p.Asp1489Val)
c.3845A>T (p.Asp1282Val)
c.4565A>T (p.Asp1522Val)
c.5063A>T (p.Asp1688Val)
c.2660A>T (p.Asp887Val)
2g.237367121T>CCA351189146COL6A3c.4448A>G (p.Asp1483Gly)
c.396A>G
c.5066A>G (p.Asp1689Gly)
c.3245A>G (p.Asp1082Gly)
c.4466A>G (p.Asp1489Gly)
c.3845A>G (p.Asp1282Gly)
c.4565A>G (p.Asp1522Gly)
c.5063A>G (p.Asp1688Gly)
c.2660A>G (p.Asp887Gly)
 gnomAD v4
2g.237367121T>GCA351189142COL6A3c.4448A>C (p.Asp1483Ala)
c.396A>C
c.5066A>C (p.Asp1689Ala)
c.3245A>C (p.Asp1082Ala)
c.4466A>C (p.Asp1489Ala)
c.3845A>C (p.Asp1282Ala)
c.4565A>C (p.Asp1522Ala)
c.5063A>C (p.Asp1688Ala)
c.2660A>C (p.Asp887Ala)
2g.237367122C>ACA351189154COL6A3c.4447G>T (p.Asp1483Tyr)
c.395G>T
c.5065G>T (p.Asp1689Tyr)
c.3244G>T (p.Asp1082Tyr)
c.4465G>T (p.Asp1489Tyr)
c.3844G>T (p.Asp1282Tyr)
c.4564G>T (p.Asp1522Tyr)
c.5062G>T (p.Asp1688Tyr)
c.2659G>T (p.Asp887Tyr)
2g.237367122C>GCA351189157COL6A3c.4447G>C (p.Asp1483His)
c.395G>C
c.5065G>C (p.Asp1689His)
c.3244G>C (p.Asp1082His)
c.4465G>C (p.Asp1489His)
c.3844G>C (p.Asp1282His)
c.4564G>C (p.Asp1522His)
c.5062G>C (p.Asp1688His)
c.2659G>C (p.Asp887His)
2g.237367122C>TCA351189155COL6A3c.4447G>A (p.Asp1483Asn)
c.395G>A
c.5065G>A (p.Asp1689Asn)
c.3244G>A (p.Asp1082Asn)
c.4465G>A (p.Asp1489Asn)
c.3844G>A (p.Asp1282Asn)
c.4564G>A (p.Asp1522Asn)
c.5062G>A (p.Asp1688Asn)
c.2659G>A (p.Asp887Asn)
2g.237367123A>CCA431711036COL6A3c.4446T>G (p.Thr1482=)
c.394T>G
c.5064T>G (p.Thr1688=)
c.3243T>G (p.Thr1081=)
c.4464T>G (p.Thr1488=)
c.3843T>G (p.Thr1281=)
c.4563T>G (p.Thr1521=)
c.5061T>G (p.Thr1687=)
c.2658T>G (p.Thr886=)
 gnomAD v4
2g.237367123A>GCA431711039COL6A3c.4446T>C (p.Thr1482=)
c.394T>C
c.5064T>C (p.Thr1688=)
c.3243T>C (p.Thr1081=)
c.4464T>C (p.Thr1488=)
c.3843T>C (p.Thr1281=)
c.4563T>C (p.Thr1521=)
c.5061T>C (p.Thr1687=)
c.2658T>C (p.Thr886=)
2g.237367123A>TCA431711041COL6A3c.4446T>A (p.Thr1482=)
c.394T>A
c.5064T>A (p.Thr1688=)
c.3243T>A (p.Thr1081=)
c.4464T>A (p.Thr1488=)
c.3843T>A (p.Thr1281=)
c.4563T>A (p.Thr1521=)
c.5061T>A (p.Thr1687=)
c.2658T>A (p.Thr886=)
2g.237367124G>ACA351189159COL6A3c.4445C>T (p.Thr1482Ile)
c.393C>T
c.5063C>T (p.Thr1688Ile)
c.3242C>T (p.Thr1081Ile)
c.4463C>T (p.Thr1488Ile)
c.3842C>T (p.Thr1281Ile)
c.4562C>T (p.Thr1521Ile)
c.5060C>T (p.Thr1687Ile)
c.2657C>T (p.Thr886Ile)
2g.237367124G>CCA351189163COL6A3c.4445C>G (p.Thr1482Ser)
c.393C>G
c.5063C>G (p.Thr1688Ser)
c.3242C>G (p.Thr1081Ser)
c.4463C>G (p.Thr1488Ser)
c.3842C>G (p.Thr1281Ser)
c.4562C>G (p.Thr1521Ser)
c.5060C>G (p.Thr1687Ser)
c.2657C>G (p.Thr886Ser)
2g.237367124G>TCA351189166COL6A3c.4445C>A (p.Thr1482Asn)
c.393C>A
c.5063C>A (p.Thr1688Asn)
c.3242C>A (p.Thr1081Asn)
c.4463C>A (p.Thr1488Asn)
c.3842C>A (p.Thr1281Asn)
c.4562C>A (p.Thr1521Asn)
c.5060C>A (p.Thr1687Asn)
c.2657C>A (p.Thr886Asn)
2g.237367125T>ACA351189169COL6A3c.4444A>T (p.Thr1482Ser)
c.392A>T
c.5062A>T (p.Thr1688Ser)
c.3241A>T (p.Thr1081Ser)
c.4462A>T (p.Thr1488Ser)
c.3841A>T (p.Thr1281Ser)
c.4561A>T (p.Thr1521Ser)
c.5059A>T (p.Thr1687Ser)
c.2656A>T (p.Thr886Ser)
2g.237367125T>CCA351189172COL6A3c.4444A>G (p.Thr1482Ala)
c.392A>G
c.5062A>G (p.Thr1688Ala)
c.3241A>G (p.Thr1081Ala)
c.4462A>G (p.Thr1488Ala)
c.3841A>G (p.Thr1281Ala)
c.4561A>G (p.Thr1521Ala)
c.5059A>G (p.Thr1687Ala)
c.2656A>G (p.Thr886Ala)
2g.237367125T>GCA351189180COL6A3c.4444A>C (p.Thr1482Pro)
c.392A>C
c.5062A>C (p.Thr1688Pro)
c.3241A>C (p.Thr1081Pro)
c.4462A>C (p.Thr1488Pro)
c.3841A>C (p.Thr1281Pro)
c.4561A>C (p.Thr1521Pro)
c.5059A>C (p.Thr1687Pro)
c.2656A>C (p.Thr886Pro)
2g.237367126G>ACA16604415COL6A3c.4443C>T (p.Pro1481=)
c.391C>T
c.5061C>T (p.Pro1687=)
c.3240C>T (p.Pro1080=)
c.4461C>T (p.Pro1487=)
c.3840C>T (p.Pro1280=)
c.4560C>T (p.Pro1520=)
c.5058C>T (p.Pro1686=)
c.2655C>T (p.Pro885=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.237367126G>CCA431711046COL6A3c.4443C>G (p.Pro1481=)
c.391C>G
c.5061C>G (p.Pro1687=)
c.3240C>G (p.Pro1080=)
c.4461C>G (p.Pro1487=)
c.3840C>G (p.Pro1280=)
c.4560C>G (p.Pro1520=)
c.5058C>G (p.Pro1686=)
c.2655C>G (p.Pro885=)
2g.237367126G=CA1337621055COL6A3c.4443C= (p.Pro1481=)
c.391C=
c.5061C= (p.Pro1687=)
c.3240C= (p.Pro1080=)
c.4461C= (p.Pro1487=)
c.3840C= (p.Pro1280=)
c.4560C= (p.Pro1520=)
c.5058C= (p.Pro1686=)
c.2655C= (p.Pro885=)
2g.237367126G>TCA431711047COL6A3c.4443C>A (p.Pro1481=)
c.391C>A
c.5061C>A (p.Pro1687=)
c.3240C>A (p.Pro1080=)
c.4461C>A (p.Pro1487=)
c.3840C>A (p.Pro1280=)
c.4560C>A (p.Pro1520=)
c.5058C>A (p.Pro1686=)
c.2655C>A (p.Pro885=)
2g.237367127G>ACA351189184COL6A3c.4442C>T (p.Pro1481Leu)
c.390C>T
c.5060C>T (p.Pro1687Leu)
c.3239C>T (p.Pro1080Leu)
c.4460C>T (p.Pro1487Leu)
c.3839C>T (p.Pro1280Leu)
c.4559C>T (p.Pro1520Leu)
c.5057C>T (p.Pro1686Leu)
c.2654C>T (p.Pro885Leu)
2g.237367127G>CCA351189186COL6A3c.4442C>G (p.Pro1481Arg)
c.390C>G
c.5060C>G (p.Pro1687Arg)
c.3239C>G (p.Pro1080Arg)
c.4460C>G (p.Pro1487Arg)
c.3839C>G (p.Pro1280Arg)
c.4559C>G (p.Pro1520Arg)
c.5057C>G (p.Pro1686Arg)
c.2654C>G (p.Pro885Arg)
2g.237367127G>TCA351189189COL6A3c.4442C>A (p.Pro1481His)
c.390C>A
c.5060C>A (p.Pro1687His)
c.3239C>A (p.Pro1080His)
c.4460C>A (p.Pro1487His)
c.3839C>A (p.Pro1280His)
c.4559C>A (p.Pro1520His)
c.5057C>A (p.Pro1686His)
c.2654C>A (p.Pro885His)
 gnomAD v4 COSMIC
2g.237367128G>ACA147980COL6A3c.4441C>T (p.Pro1481Ser)
c.389C>T
c.5059C>T (p.Pro1687Ser)
c.3238C>T (p.Pro1080Ser)
c.4459C>T (p.Pro1487Ser)
c.3838C>T (p.Pro1280Ser)
c.4558C>T (p.Pro1520Ser)
c.5056C>T (p.Pro1686Ser)
c.2653C>T (p.Pro885Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367128G>CCA351189192COL6A3c.4441C>G (p.Pro1481Ala)
c.389C>G
c.5059C>G (p.Pro1687Ala)
c.3238C>G (p.Pro1080Ala)
c.4459C>G (p.Pro1487Ala)
c.3838C>G (p.Pro1280Ala)
c.4558C>G (p.Pro1520Ala)
c.5056C>G (p.Pro1686Ala)
c.2653C>G (p.Pro885Ala)
2g.237367128G=CA1337621056COL6A3c.4441C= (p.Pro1481=)
c.389C=
c.5059C= (p.Pro1687=)
c.3238C= (p.Pro1080=)
c.4459C= (p.Pro1487=)
c.3838C= (p.Pro1280=)
c.4558C= (p.Pro1520=)
c.5056C= (p.Pro1686=)
c.2653C= (p.Pro885=)
2g.237367128G>TCA2188751COL6A3c.4441C>A (p.Pro1481Thr)
c.389C>A
c.5059C>A (p.Pro1687Thr)
c.3238C>A (p.Pro1080Thr)
c.4459C>A (p.Pro1487Thr)
c.3838C>A (p.Pro1280Thr)
c.4558C>A (p.Pro1520Thr)
c.5056C>A (p.Pro1686Thr)
c.2653C>A (p.Pro885Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched