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)

Number of alleles fetched