Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237366815G>ACA351187619COL6A3c.4754C>T (p.Ser1585Phe)
c.5372C>T (p.Ser1791Phe)
c.3551C>T (p.Ser1184Phe)
c.4772C>T (p.Ser1591Phe)
c.4151C>T (p.Ser1384Phe)
c.4871C>T (p.Ser1624Phe)
c.5369C>T (p.Ser1790Phe)
c.2966C>T (p.Ser989Phe)
2g.237366815G>CCA351187620COL6A3c.4754C>G (p.Ser1585Cys)
c.5372C>G (p.Ser1791Cys)
c.3551C>G (p.Ser1184Cys)
c.4772C>G (p.Ser1591Cys)
c.4151C>G (p.Ser1384Cys)
c.4871C>G (p.Ser1624Cys)
c.5369C>G (p.Ser1790Cys)
c.2966C>G (p.Ser989Cys)
2g.237366815G=CA1337620900COL6A3c.4754C= (p.Ser1585=)
c.5372C= (p.Ser1791=)
c.3551C= (p.Ser1184=)
c.4772C= (p.Ser1591=)
c.4151C= (p.Ser1384=)
c.4871C= (p.Ser1624=)
c.5369C= (p.Ser1790=)
c.2966C= (p.Ser989=)
2g.237366815G>TCA351187621COL6A3c.4754C>A (p.Ser1585Tyr)
c.5372C>A (p.Ser1791Tyr)
c.3551C>A (p.Ser1184Tyr)
c.4772C>A (p.Ser1591Tyr)
c.4151C>A (p.Ser1384Tyr)
c.4871C>A (p.Ser1624Tyr)
c.5369C>A (p.Ser1790Tyr)
c.2966C>A (p.Ser989Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237366816A>CCA351187622COL6A3c.4753T>G (p.Ser1585Ala)
c.5371T>G (p.Ser1791Ala)
c.3550T>G (p.Ser1184Ala)
c.4771T>G (p.Ser1591Ala)
c.4150T>G (p.Ser1384Ala)
c.4870T>G (p.Ser1624Ala)
c.5368T>G (p.Ser1790Ala)
c.2965T>G (p.Ser989Ala)
2g.237366816A>GCA351187623COL6A3c.4753T>C (p.Ser1585Pro)
c.5371T>C (p.Ser1791Pro)
c.3550T>C (p.Ser1184Pro)
c.4771T>C (p.Ser1591Pro)
c.4150T>C (p.Ser1384Pro)
c.4870T>C (p.Ser1624Pro)
c.5368T>C (p.Ser1790Pro)
c.2965T>C (p.Ser989Pro)
2g.237366816A>TCA351187624COL6A3c.4753T>A (p.Ser1585Thr)
c.5371T>A (p.Ser1791Thr)
c.3550T>A (p.Ser1184Thr)
c.4771T>A (p.Ser1591Thr)
c.4150T>A (p.Ser1384Thr)
c.4870T>A (p.Ser1624Thr)
c.5368T>A (p.Ser1790Thr)
c.2965T>A (p.Ser989Thr)
2g.237366817C>ACA431710919COL6A3c.4752G>T (p.Ala1584=)
c.5370G>T (p.Ala1790=)
c.3549G>T (p.Ala1183=)
c.4770G>T (p.Ala1590=)
c.4149G>T (p.Ala1383=)
c.4869G>T (p.Ala1623=)
c.5367G>T (p.Ala1789=)
c.2964G>T (p.Ala988=)
2g.237366817C=CA1337620901COL6A3c.4752G= (p.Ala1584=)
c.5370G= (p.Ala1790=)
c.3549G= (p.Ala1183=)
c.4770G= (p.Ala1590=)
c.4149G= (p.Ala1383=)
c.4869G= (p.Ala1623=)
c.5367G= (p.Ala1789=)
c.2964G= (p.Ala988=)
2g.237366817C>GCA431710920COL6A3c.4752G>C (p.Ala1584=)
c.5370G>C (p.Ala1790=)
c.3549G>C (p.Ala1183=)
c.4770G>C (p.Ala1590=)
c.4149G>C (p.Ala1383=)
c.4869G>C (p.Ala1623=)
c.5367G>C (p.Ala1789=)
c.2964G>C (p.Ala988=)
2g.237366817C>TCA2188683COL6A3c.4752G>A (p.Ala1584=)
c.5370G>A (p.Ala1790=)
c.3549G>A (p.Ala1183=)
c.4770G>A (p.Ala1590=)
c.4149G>A (p.Ala1383=)
c.4869G>A (p.Ala1623=)
c.5367G>A (p.Ala1789=)
c.2964G>A (p.Ala988=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237366818G>ACA2188684COL6A3c.4751C>T (p.Ala1584Val)
c.5369C>T (p.Ala1790Val)
c.3548C>T (p.Ala1183Val)
c.4769C>T (p.Ala1590Val)
c.4148C>T (p.Ala1383Val)
c.4868C>T (p.Ala1623Val)
c.5366C>T (p.Ala1789Val)
c.2963C>T (p.Ala988Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366818G>CCA351187625COL6A3c.4751C>G (p.Ala1584Gly)
c.5369C>G (p.Ala1790Gly)
c.3548C>G (p.Ala1183Gly)
c.4769C>G (p.Ala1590Gly)
c.4148C>G (p.Ala1383Gly)
c.4868C>G (p.Ala1623Gly)
c.5366C>G (p.Ala1789Gly)
c.2963C>G (p.Ala988Gly)
2g.237366818G=CA1337620902COL6A3c.4751C= (p.Ala1584=)
c.5369C= (p.Ala1790=)
c.3548C= (p.Ala1183=)
c.4769C= (p.Ala1590=)
c.4148C= (p.Ala1383=)
c.4868C= (p.Ala1623=)
c.5366C= (p.Ala1789=)
c.2963C= (p.Ala988=)
2g.237366818G>TCA351187626COL6A3c.4751C>A (p.Ala1584Glu)
c.5369C>A (p.Ala1790Glu)
c.3548C>A (p.Ala1183Glu)
c.4769C>A (p.Ala1590Glu)
c.4148C>A (p.Ala1383Glu)
c.4868C>A (p.Ala1623Glu)
c.5366C>A (p.Ala1789Glu)
c.2963C>A (p.Ala988Glu)
2g.237366819C>ACA351187627COL6A3c.4750G>T (p.Ala1584Ser)
c.5368G>T (p.Ala1790Ser)
c.3547G>T (p.Ala1183Ser)
c.4768G>T (p.Ala1590Ser)
c.4147G>T (p.Ala1383Ser)
c.4867G>T (p.Ala1623Ser)
c.5365G>T (p.Ala1789Ser)
c.2962G>T (p.Ala988Ser)
2g.237366819C>GCA351187628COL6A3c.4750G>C (p.Ala1584Pro)
c.5368G>C (p.Ala1790Pro)
c.3547G>C (p.Ala1183Pro)
c.4768G>C (p.Ala1590Pro)
c.4147G>C (p.Ala1383Pro)
c.4867G>C (p.Ala1623Pro)
c.5365G>C (p.Ala1789Pro)
c.2962G>C (p.Ala988Pro)
2g.237366819C>TCA351187629COL6A3c.4750G>A (p.Ala1584Thr)
c.5368G>A (p.Ala1790Thr)
c.3547G>A (p.Ala1183Thr)
c.4768G>A (p.Ala1590Thr)
c.4147G>A (p.Ala1383Thr)
c.4867G>A (p.Ala1623Thr)
c.5365G>A (p.Ala1789Thr)
c.2962G>A (p.Ala988Thr)
2g.237366820T>ACA431710927COL6A3c.4749A>T (p.Ile1583=)
c.5367A>T (p.Ile1789=)
c.3546A>T (p.Ile1182=)
c.4767A>T (p.Ile1589=)
c.4146A>T (p.Ile1382=)
c.4866A>T (p.Ile1622=)
c.5364A>T (p.Ile1788=)
c.2961A>T (p.Ile987=)
2g.237366820T>CCA351187630COL6A3c.4749A>G (p.Ile1583Met)
c.5367A>G (p.Ile1789Met)
c.3546A>G (p.Ile1182Met)
c.4767A>G (p.Ile1589Met)
c.4146A>G (p.Ile1382Met)
c.4866A>G (p.Ile1622Met)
c.5364A>G (p.Ile1788Met)
c.2961A>G (p.Ile987Met)
 dbSNP gnomAD v4
2g.237366820T>GCA431710928COL6A3c.4749A>C (p.Ile1583=)
c.5367A>C (p.Ile1789=)
c.3546A>C (p.Ile1182=)
c.4767A>C (p.Ile1589=)
c.4146A>C (p.Ile1382=)
c.4866A>C (p.Ile1622=)
c.5364A>C (p.Ile1788=)
c.2961A>C (p.Ile987=)
2g.237366820T=CA1337620903COL6A3c.4749A= (p.Ile1583=)
c.5367A= (p.Ile1789=)
c.3546A= (p.Ile1182=)
c.4767A= (p.Ile1589=)
c.4146A= (p.Ile1382=)
c.4866A= (p.Ile1622=)
c.5364A= (p.Ile1788=)
c.2961A= (p.Ile987=)
2g.237366821A>CCA351187631COL6A3c.4748T>G (p.Ile1583Arg)
c.5366T>G (p.Ile1789Arg)
c.3545T>G (p.Ile1182Arg)
c.4766T>G (p.Ile1589Arg)
c.4145T>G (p.Ile1382Arg)
c.4865T>G (p.Ile1622Arg)
c.5363T>G (p.Ile1788Arg)
c.2960T>G (p.Ile987Arg)
2g.237366821A>GCA351187632COL6A3c.4748T>C (p.Ile1583Thr)
c.5366T>C (p.Ile1789Thr)
c.3545T>C (p.Ile1182Thr)
c.4766T>C (p.Ile1589Thr)
c.4145T>C (p.Ile1382Thr)
c.4865T>C (p.Ile1622Thr)
c.5363T>C (p.Ile1788Thr)
c.2960T>C (p.Ile987Thr)
 gnomAD v4
2g.237366821A>TCA351187633COL6A3c.4748T>A (p.Ile1583Lys)
c.5366T>A (p.Ile1789Lys)
c.3545T>A (p.Ile1182Lys)
c.4766T>A (p.Ile1589Lys)
c.4145T>A (p.Ile1382Lys)
c.4865T>A (p.Ile1622Lys)
c.5363T>A (p.Ile1788Lys)
c.2960T>A (p.Ile987Lys)
2g.237366822T>ACA351187634COL6A3c.4747A>T (p.Ile1583Leu)
c.5365A>T (p.Ile1789Leu)
c.3544A>T (p.Ile1182Leu)
c.4765A>T (p.Ile1589Leu)
c.4144A>T (p.Ile1382Leu)
c.4864A>T (p.Ile1622Leu)
c.5362A>T (p.Ile1788Leu)
c.2959A>T (p.Ile987Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237366822T>CCA351187635COL6A3c.4747A>G (p.Ile1583Val)
c.5365A>G (p.Ile1789Val)
c.3544A>G (p.Ile1182Val)
c.4765A>G (p.Ile1589Val)
c.4144A>G (p.Ile1382Val)
c.4864A>G (p.Ile1622Val)
c.5362A>G (p.Ile1788Val)
c.2959A>G (p.Ile987Val)
2g.237366822T>GCA351187636COL6A3c.4747A>C (p.Ile1583Leu)
c.5365A>C (p.Ile1789Leu)
c.3544A>C (p.Ile1182Leu)
c.4765A>C (p.Ile1589Leu)
c.4144A>C (p.Ile1382Leu)
c.4864A>C (p.Ile1622Leu)
c.5362A>C (p.Ile1788Leu)
c.2959A>C (p.Ile987Leu)
2g.237366822T=CA1337620904COL6A3c.4747A= (p.Ile1583=)
c.5365A= (p.Ile1789=)
c.3544A= (p.Ile1182=)
c.4765A= (p.Ile1589=)
c.4144A= (p.Ile1382=)
c.4864A= (p.Ile1622=)
c.5362A= (p.Ile1788=)
c.2959A= (p.Ile987=)
2g.237366823C>ACA351187637COL6A3c.4746G>T (p.Lys1582Asn)
c.5364G>T (p.Lys1788Asn)
c.3543G>T (p.Lys1181Asn)
c.4764G>T (p.Lys1588Asn)
c.4143G>T (p.Lys1381Asn)
c.4863G>T (p.Lys1621Asn)
c.5361G>T (p.Lys1787Asn)
c.2958G>T (p.Lys986Asn)
2g.237366823C>GCA351187638COL6A3c.4746G>C (p.Lys1582Asn)
c.5364G>C (p.Lys1788Asn)
c.3543G>C (p.Lys1181Asn)
c.4764G>C (p.Lys1588Asn)
c.4143G>C (p.Lys1381Asn)
c.4863G>C (p.Lys1621Asn)
c.5361G>C (p.Lys1787Asn)
c.2958G>C (p.Lys986Asn)
 dbSNP
2g.237366823C>TCA431710933COL6A3c.4746G>A (p.Lys1582=)
c.5364G>A (p.Lys1788=)
c.3543G>A (p.Lys1181=)
c.4764G>A (p.Lys1588=)
c.4143G>A (p.Lys1381=)
c.4863G>A (p.Lys1621=)
c.5361G>A (p.Lys1787=)
c.2958G>A (p.Lys986=)
 gnomAD v4
2g.237366824T>ACA351187640COL6A3c.4745A>T (p.Lys1582Met)
c.5363A>T (p.Lys1788Met)
c.3542A>T (p.Lys1181Met)
c.4763A>T (p.Lys1588Met)
c.4142A>T (p.Lys1381Met)
c.4862A>T (p.Lys1621Met)
c.5360A>T (p.Lys1787Met)
c.2957A>T (p.Lys986Met)
 dbSNP gnomAD v2 gnomAD v4
2g.237366824T>CCA351187641COL6A3c.4745A>G (p.Lys1582Arg)
c.5363A>G (p.Lys1788Arg)
c.3542A>G (p.Lys1181Arg)
c.4763A>G (p.Lys1588Arg)
c.4142A>G (p.Lys1381Arg)
c.4862A>G (p.Lys1621Arg)
c.5360A>G (p.Lys1787Arg)
c.2957A>G (p.Lys986Arg)
2g.237366824T>GCA351187639COL6A3c.4745A>C (p.Lys1582Thr)
c.5363A>C (p.Lys1788Thr)
c.3542A>C (p.Lys1181Thr)
c.4763A>C (p.Lys1588Thr)
c.4142A>C (p.Lys1381Thr)
c.4862A>C (p.Lys1621Thr)
c.5360A>C (p.Lys1787Thr)
c.2957A>C (p.Lys986Thr)
2g.237366824T=CA1337620905COL6A3c.4745A= (p.Lys1582=)
c.5363A= (p.Lys1788=)
c.3542A= (p.Lys1181=)
c.4763A= (p.Lys1588=)
c.4142A= (p.Lys1381=)
c.4862A= (p.Lys1621=)
c.5360A= (p.Lys1787=)
c.2957A= (p.Lys986=)
2g.237366825T>ACA351187644COL6A3c.4744A>T (p.Lys1582Ter)
c.5362A>T (p.Lys1788Ter)
c.3541A>T (p.Lys1181Ter)
c.4762A>T (p.Lys1588Ter)
c.4141A>T (p.Lys1381Ter)
c.4861A>T (p.Lys1621Ter)
c.5359A>T (p.Lys1787Ter)
c.2956A>T (p.Lys986Ter)
2g.237366825T>CCA351187642COL6A3c.4744A>G (p.Lys1582Glu)
c.5362A>G (p.Lys1788Glu)
c.3541A>G (p.Lys1181Glu)
c.4762A>G (p.Lys1588Glu)
c.4141A>G (p.Lys1381Glu)
c.4861A>G (p.Lys1621Glu)
c.5359A>G (p.Lys1787Glu)
c.2956A>G (p.Lys986Glu)
2g.237366825T>GCA351187643COL6A3c.4744A>C (p.Lys1582Gln)
c.5362A>C (p.Lys1788Gln)
c.3541A>C (p.Lys1181Gln)
c.4762A>C (p.Lys1588Gln)
c.4141A>C (p.Lys1381Gln)
c.4861A>C (p.Lys1621Gln)
c.5359A>C (p.Lys1787Gln)
c.2956A>C (p.Lys986Gln)
2g.237366826T>ACA431710937COL6A3c.4743A>T (p.Gly1581=)
c.5361A>T (p.Gly1787=)
c.3540A>T (p.Gly1180=)
c.4761A>T (p.Gly1587=)
c.4140A>T (p.Gly1380=)
c.4860A>T (p.Gly1620=)
c.5358A>T (p.Gly1786=)
c.2955A>T (p.Gly985=)
2g.237366826T>CCA431710935COL6A3c.4743A>G (p.Gly1581=)
c.5361A>G (p.Gly1787=)
c.3540A>G (p.Gly1180=)
c.4761A>G (p.Gly1587=)
c.4140A>G (p.Gly1380=)
c.4860A>G (p.Gly1620=)
c.5358A>G (p.Gly1786=)
c.2955A>G (p.Gly985=)
2g.237366826T>GCA431710936COL6A3c.4743A>C (p.Gly1581=)
c.5361A>C (p.Gly1787=)
c.3540A>C (p.Gly1180=)
c.4761A>C (p.Gly1587=)
c.4140A>C (p.Gly1380=)
c.4860A>C (p.Gly1620=)
c.5358A>C (p.Gly1786=)
c.2955A>C (p.Gly985=)
2g.237366827C>ACA351187645COL6A3c.4742G>T (p.Gly1581Val)
c.5360G>T (p.Gly1787Val)
c.3539G>T (p.Gly1180Val)
c.4760G>T (p.Gly1587Val)
c.4139G>T (p.Gly1380Val)
c.4859G>T (p.Gly1620Val)
c.5357G>T (p.Gly1786Val)
c.2954G>T (p.Gly985Val)
2g.237366827C>GCA351187646COL6A3c.4742G>C (p.Gly1581Ala)
c.5360G>C (p.Gly1787Ala)
c.3539G>C (p.Gly1180Ala)
c.4760G>C (p.Gly1587Ala)
c.4139G>C (p.Gly1380Ala)
c.4859G>C (p.Gly1620Ala)
c.5357G>C (p.Gly1786Ala)
c.2954G>C (p.Gly985Ala)
2g.237366827C>TCA351187647COL6A3c.4742G>A (p.Gly1581Glu)
c.5360G>A (p.Gly1787Glu)
c.3539G>A (p.Gly1180Glu)
c.4760G>A (p.Gly1587Glu)
c.4139G>A (p.Gly1380Glu)
c.4859G>A (p.Gly1620Glu)
c.5357G>A (p.Gly1786Glu)
c.2954G>A (p.Gly985Glu)
 COSMIC
2g.237366828C>ACA351187648COL6A3c.4741G>T (p.Gly1581Ter)
c.5359G>T (p.Gly1787Ter)
c.3538G>T (p.Gly1180Ter)
c.4759G>T (p.Gly1587Ter)
c.4138G>T (p.Gly1380Ter)
c.4858G>T (p.Gly1620Ter)
c.5356G>T (p.Gly1786Ter)
c.2953G>T (p.Gly985Ter)
2g.237366828C>GCA351187649COL6A3c.4741G>C (p.Gly1581Arg)
c.5359G>C (p.Gly1787Arg)
c.3538G>C (p.Gly1180Arg)
c.4759G>C (p.Gly1587Arg)
c.4138G>C (p.Gly1380Arg)
c.4858G>C (p.Gly1620Arg)
c.5356G>C (p.Gly1786Arg)
c.2953G>C (p.Gly985Arg)
2g.237366828C>TCA351187650COL6A3c.4741G>A (p.Gly1581Arg)
c.5359G>A (p.Gly1787Arg)
c.3538G>A (p.Gly1180Arg)
c.4759G>A (p.Gly1587Arg)
c.4138G>A (p.Gly1380Arg)
c.4858G>A (p.Gly1620Arg)
c.5356G>A (p.Gly1786Arg)
c.2953G>A (p.Gly985Arg)
 ClinVar dbSNP gnomAD v4
2g.237366828_237366829delinsCACA1337620906COL6A3c.4740_4741delinsTG (p.Val1580=)
c.5358_5359delinsTG (p.Val1786=)
c.3537_3538delinsTG (p.Val1179=)
c.4758_4759delinsTG (p.Val1586=)
c.4137_4138delinsTG (p.Val1379=)
c.4857_4858delinsTG (p.Val1619=)
c.5355_5356delinsTG (p.Val1785=)
c.2952_2953delinsTG (p.Val984=)
2g.237366829A=CA1337620907COL6A3c.4740T= (p.Val1580=)
c.5358T= (p.Val1786=)
c.3537T= (p.Val1179=)
c.4758T= (p.Val1586=)
c.4137T= (p.Val1379=)
c.4857T= (p.Val1619=)
c.5355T= (p.Val1785=)
c.2952T= (p.Val984=)
2g.237366829A>CCA431710945COL6A3c.4740T>G (p.Val1580=)
c.5358T>G (p.Val1786=)
c.3537T>G (p.Val1179=)
c.4758T>G (p.Val1586=)
c.4137T>G (p.Val1379=)
c.4857T>G (p.Val1619=)
c.5355T>G (p.Val1785=)
c.2952T>G (p.Val984=)
 dbSNP gnomAD v2 gnomAD v4
2g.237366829A>GCA431710946COL6A3c.4740T>C (p.Val1580=)
c.5358T>C (p.Val1786=)
c.3537T>C (p.Val1179=)
c.4758T>C (p.Val1586=)
c.4137T>C (p.Val1379=)
c.4857T>C (p.Val1619=)
c.5355T>C (p.Val1785=)
c.2952T>C (p.Val984=)
2g.237366829A>TCA431710949COL6A3c.4740T>A (p.Val1580=)
c.5358T>A (p.Val1786=)
c.3537T>A (p.Val1179=)
c.4758T>A (p.Val1586=)
c.4137T>A (p.Val1379=)
c.4857T>A (p.Val1619=)
c.5355T>A (p.Val1785=)
c.2952T>A (p.Val984=)
2g.237366830delCA2188685COL6A3c.4740del (p.Gly1581GlufsTer3)
c.5358del (p.Gly1787GlufsTer3)
c.3537del (p.Gly1180GlufsTer3)
c.4758del (p.Gly1587GlufsTer3)
c.4137del (p.Gly1380GlufsTer3)
c.4857del (p.Gly1620GlufsTer3)
c.5355del (p.Gly1786GlufsTer3)
c.2952del (p.Gly985GlufsTer3)
 dbSNP ExAC
2g.237366830A=CA1337620908COL6A3c.4739T= (p.Val1580=)
c.5357T= (p.Val1786=)
c.3536T= (p.Val1179=)
c.4757T= (p.Val1586=)
c.4136T= (p.Val1379=)
c.4856T= (p.Val1619=)
c.5354T= (p.Val1785=)
c.2951T= (p.Val984=)
2g.237366830A>CCA351187651COL6A3c.4739T>G (p.Val1580Gly)
c.5357T>G (p.Val1786Gly)
c.3536T>G (p.Val1179Gly)
c.4757T>G (p.Val1586Gly)
c.4136T>G (p.Val1379Gly)
c.4856T>G (p.Val1619Gly)
c.5354T>G (p.Val1785Gly)
c.2951T>G (p.Val984Gly)
2g.237366830A>GCA351187652COL6A3c.4739T>C (p.Val1580Ala)
c.5357T>C (p.Val1786Ala)
c.3536T>C (p.Val1179Ala)
c.4757T>C (p.Val1586Ala)
c.4136T>C (p.Val1379Ala)
c.4856T>C (p.Val1619Ala)
c.5354T>C (p.Val1785Ala)
c.2951T>C (p.Val984Ala)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.237366830A>TCA351187653COL6A3c.4739T>A (p.Val1580Asp)
c.5357T>A (p.Val1786Asp)
c.3536T>A (p.Val1179Asp)
c.4757T>A (p.Val1586Asp)
c.4136T>A (p.Val1379Asp)
c.4856T>A (p.Val1619Asp)
c.5354T>A (p.Val1785Asp)
c.2951T>A (p.Val984Asp)
2g.237366830_237366831delinsACCA1337620909COL6A3c.4738_4739delinsGT (p.Val1580=)
c.5356_5357delinsGT (p.Val1786=)
c.3535_3536delinsGT (p.Val1179=)
c.4756_4757delinsGT (p.Val1586=)
c.4135_4136delinsGT (p.Val1379=)
c.4855_4856delinsGT (p.Val1619=)
c.5353_5354delinsGT (p.Val1785=)
c.2950_2951delinsGT (p.Val984=)
2g.237366831C>ACA351187656COL6A3c.4738G>T (p.Val1580Phe)
c.5356G>T (p.Val1786Phe)
c.3535G>T (p.Val1179Phe)
c.4756G>T (p.Val1586Phe)
c.4135G>T (p.Val1379Phe)
c.4855G>T (p.Val1619Phe)
c.5353G>T (p.Val1785Phe)
c.2950G>T (p.Val984Phe)
2g.237366831C>GCA351187655COL6A3c.4738G>C (p.Val1580Leu)
c.5356G>C (p.Val1786Leu)
c.3535G>C (p.Val1179Leu)
c.4756G>C (p.Val1586Leu)
c.4135G>C (p.Val1379Leu)
c.4855G>C (p.Val1619Leu)
c.5353G>C (p.Val1785Leu)
c.2950G>C (p.Val984Leu)
2g.237366831C>TCA351187654COL6A3c.4738G>A (p.Val1580Ile)
c.5356G>A (p.Val1786Ile)
c.3535G>A (p.Val1179Ile)
c.4756G>A (p.Val1586Ile)
c.4135G>A (p.Val1379Ile)
c.4855G>A (p.Val1619Ile)
c.5353G>A (p.Val1785Ile)
c.2950G>A (p.Val984Ile)
 ClinVar dbSNP gnomAD v4
2g.237366832delCA540749816COL6A3c.4738del (p.Val1580LeufsTer4)
c.5356del (p.Val1786LeufsTer4)
c.3535del (p.Val1179LeufsTer4)
c.4756del (p.Val1586LeufsTer4)
c.4135del (p.Val1379LeufsTer4)
c.4855del (p.Val1619LeufsTer4)
c.5353del (p.Val1785LeufsTer4)
c.2950del (p.Val984LeufsTer4)
 dbSNP gnomAD v2
2g.237366832C>ACA2188686COL6A3c.4737G>T (p.Glu1579Asp)
c.5355G>T (p.Glu1785Asp)
c.3534G>T (p.Glu1178Asp)
c.4755G>T (p.Glu1585Asp)
c.4134G>T (p.Glu1378Asp)
c.4854G>T (p.Glu1618Asp)
c.5352G>T (p.Glu1784Asp)
c.2949G>T (p.Glu983Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366832C=CA1337620910COL6A3c.4737G= (p.Glu1579=)
c.5355G= (p.Glu1785=)
c.3534G= (p.Glu1178=)
c.4755G= (p.Glu1585=)
c.4134G= (p.Glu1378=)
c.4854G= (p.Glu1618=)
c.5352G= (p.Glu1784=)
c.2949G= (p.Glu983=)
2g.237366832C>GCA351187657COL6A3c.4737G>C (p.Glu1579Asp)
c.5355G>C (p.Glu1785Asp)
c.3534G>C (p.Glu1178Asp)
c.4755G>C (p.Glu1585Asp)
c.4134G>C (p.Glu1378Asp)
c.4854G>C (p.Glu1618Asp)
c.5352G>C (p.Glu1784Asp)
c.2949G>C (p.Glu983Asp)
2g.237366832C>TCA431710954COL6A3c.4737G>A (p.Glu1579=)
c.5355G>A (p.Glu1785=)
c.3534G>A (p.Glu1178=)
c.4755G>A (p.Glu1585=)
c.4134G>A (p.Glu1378=)
c.4854G>A (p.Glu1618=)
c.5352G>A (p.Glu1784=)
c.2949G>A (p.Glu983=)
2g.237366833T>ACA351187658COL6A3c.4736A>T (p.Glu1579Val)
c.5354A>T (p.Glu1785Val)
c.3533A>T (p.Glu1178Val)
c.4754A>T (p.Glu1585Val)
c.4133A>T (p.Glu1378Val)
c.4853A>T (p.Glu1618Val)
c.5351A>T (p.Glu1784Val)
c.2948A>T (p.Glu983Val)
2g.237366833T>CCA351187659COL6A3c.4736A>G (p.Glu1579Gly)
c.5354A>G (p.Glu1785Gly)
c.3533A>G (p.Glu1178Gly)
c.4754A>G (p.Glu1585Gly)
c.4133A>G (p.Glu1378Gly)
c.4853A>G (p.Glu1618Gly)
c.5351A>G (p.Glu1784Gly)
c.2948A>G (p.Glu983Gly)
2g.237366833T>GCA351187660COL6A3c.4736A>C (p.Glu1579Ala)
c.5354A>C (p.Glu1785Ala)
c.3533A>C (p.Glu1178Ala)
c.4754A>C (p.Glu1585Ala)
c.4133A>C (p.Glu1378Ala)
c.4853A>C (p.Glu1618Ala)
c.5351A>C (p.Glu1784Ala)
c.2948A>C (p.Glu983Ala)
2g.237366834C>ACA351187661COL6A3c.4735G>T (p.Glu1579Ter)
c.5353G>T (p.Glu1785Ter)
c.3532G>T (p.Glu1178Ter)
c.4753G>T (p.Glu1585Ter)
c.4132G>T (p.Glu1378Ter)
c.4852G>T (p.Glu1618Ter)
c.5350G>T (p.Glu1784Ter)
c.2947G>T (p.Glu983Ter)
2g.237366834C>GCA351187662COL6A3c.4735G>C (p.Glu1579Gln)
c.5353G>C (p.Glu1785Gln)
c.3532G>C (p.Glu1178Gln)
c.4753G>C (p.Glu1585Gln)
c.4132G>C (p.Glu1378Gln)
c.4852G>C (p.Glu1618Gln)
c.5350G>C (p.Glu1784Gln)
c.2947G>C (p.Glu983Gln)
2g.237366834C>TCA351187663COL6A3c.4735G>A (p.Glu1579Lys)
c.5353G>A (p.Glu1785Lys)
c.3532G>A (p.Glu1178Lys)
c.4753G>A (p.Glu1585Lys)
c.4132G>A (p.Glu1378Lys)
c.4852G>A (p.Glu1618Lys)
c.5350G>A (p.Glu1784Lys)
c.2947G>A (p.Glu983Lys)
2g.237366835C>ACA351187664COL6A3c.4734G>T (p.Glu1578Asp)
c.5352G>T (p.Glu1784Asp)
c.3531G>T (p.Glu1177Asp)
c.4752G>T (p.Glu1584Asp)
c.4131G>T (p.Glu1377Asp)
c.4851G>T (p.Glu1617Asp)
c.5349G>T (p.Glu1783Asp)
c.2946G>T (p.Glu982Asp)
2g.237366835C>GCA351187665COL6A3c.4734G>C (p.Glu1578Asp)
c.5352G>C (p.Glu1784Asp)
c.3531G>C (p.Glu1177Asp)
c.4752G>C (p.Glu1584Asp)
c.4131G>C (p.Glu1377Asp)
c.4851G>C (p.Glu1617Asp)
c.5349G>C (p.Glu1783Asp)
c.2946G>C (p.Glu982Asp)
2g.237366835C>TCA431710961COL6A3c.4734G>A (p.Glu1578=)
c.5352G>A (p.Glu1784=)
c.3531G>A (p.Glu1177=)
c.4752G>A (p.Glu1584=)
c.4131G>A (p.Glu1377=)
c.4851G>A (p.Glu1617=)
c.5349G>A (p.Glu1783=)
c.2946G>A (p.Glu982=)
 dbSNP gnomAD v4 COSMIC
2g.237366836T>ACA351187666COL6A3c.4733A>T (p.Glu1578Val)
c.5351A>T (p.Glu1784Val)
c.3530A>T (p.Glu1177Val)
c.4751A>T (p.Glu1584Val)
c.4130A>T (p.Glu1377Val)
c.4850A>T (p.Glu1617Val)
c.5348A>T (p.Glu1783Val)
c.2945A>T (p.Glu982Val)
2g.237366836T>CCA351187667COL6A3c.4733A>G (p.Glu1578Gly)
c.5351A>G (p.Glu1784Gly)
c.3530A>G (p.Glu1177Gly)
c.4751A>G (p.Glu1584Gly)
c.4130A>G (p.Glu1377Gly)
c.4850A>G (p.Glu1617Gly)
c.5348A>G (p.Glu1783Gly)
c.2945A>G (p.Glu982Gly)
 ClinVar dbSNP gnomAD v4
2g.237366836T>GCA351187668COL6A3c.4733A>C (p.Glu1578Ala)
c.5351A>C (p.Glu1784Ala)
c.3530A>C (p.Glu1177Ala)
c.4751A>C (p.Glu1584Ala)
c.4130A>C (p.Glu1377Ala)
c.4850A>C (p.Glu1617Ala)
c.5348A>C (p.Glu1783Ala)
c.2945A>C (p.Glu982Ala)
2g.237366836T=CA1337620911COL6A3c.4733A= (p.Glu1578=)
c.5351A= (p.Glu1784=)
c.3530A= (p.Glu1177=)
c.4751A= (p.Glu1584=)
c.4130A= (p.Glu1377=)
c.4850A= (p.Glu1617=)
c.5348A= (p.Glu1783=)
c.2945A= (p.Glu982=)
2g.237366837C>ACA351187671COL6A3c.4732G>T (p.Glu1578Ter)
c.5350G>T (p.Glu1784Ter)
c.3529G>T (p.Glu1177Ter)
c.4750G>T (p.Glu1584Ter)
c.4129G>T (p.Glu1377Ter)
c.4849G>T (p.Glu1617Ter)
c.5347G>T (p.Glu1783Ter)
c.2944G>T (p.Glu982Ter)
2g.237366837C>GCA351187670COL6A3c.4732G>C (p.Glu1578Gln)
c.5350G>C (p.Glu1784Gln)
c.3529G>C (p.Glu1177Gln)
c.4750G>C (p.Glu1584Gln)
c.4129G>C (p.Glu1377Gln)
c.4849G>C (p.Glu1617Gln)
c.5347G>C (p.Glu1783Gln)
c.2944G>C (p.Glu982Gln)
2g.237366837C>TCA351187669COL6A3c.4732G>A (p.Glu1578Lys)
c.5350G>A (p.Glu1784Lys)
c.3529G>A (p.Glu1177Lys)
c.4750G>A (p.Glu1584Lys)
c.4129G>A (p.Glu1377Lys)
c.4849G>A (p.Glu1617Lys)
c.5347G>A (p.Glu1783Lys)
c.2944G>A (p.Glu982Lys)
2g.237366837_237366843delCA2577290090COL6A3c.4726_4732del (p.Asp1576ArgfsTer6)
c.5344_5350del (p.Asp1782ArgfsTer6)
c.3523_3529del (p.Asp1175ArgfsTer6)
c.4744_4750del (p.Asp1582ArgfsTer6)
c.4123_4129del (p.Asp1375ArgfsTer6)
c.4843_4849del (p.Asp1615ArgfsTer6)
c.5341_5347del (p.Asp1781ArgfsTer6)
c.2938_2944del (p.Asp980ArgfsTer6)
2g.237366838C>ACA431710970COL6A3c.4731G>T (p.Ser1577=)
c.5349G>T (p.Ser1783=)
c.3528G>T (p.Ser1176=)
c.4749G>T (p.Ser1583=)
c.4128G>T (p.Ser1376=)
c.4848G>T (p.Ser1616=)
c.5346G>T (p.Ser1782=)
c.2943G>T (p.Ser981=)
2g.237366838C=CA1337620912COL6A3c.4731G= (p.Ser1577=)
c.5349G= (p.Ser1783=)
c.3528G= (p.Ser1176=)
c.4749G= (p.Ser1583=)
c.4128G= (p.Ser1376=)
c.4848G= (p.Ser1616=)
c.5346G= (p.Ser1782=)
c.2943G= (p.Ser981=)
2g.237366838C>GCA431710971COL6A3c.4731G>C (p.Ser1577=)
c.5349G>C (p.Ser1783=)
c.3528G>C (p.Ser1176=)
c.4749G>C (p.Ser1583=)
c.4128G>C (p.Ser1376=)
c.4848G>C (p.Ser1616=)
c.5346G>C (p.Ser1782=)
c.2943G>C (p.Ser981=)
 dbSNP gnomAD v3 gnomAD v4
2g.237366838C>TCA2188687COL6A3c.4731G>A (p.Ser1577=)
c.5349G>A (p.Ser1783=)
c.3528G>A (p.Ser1176=)
c.4749G>A (p.Ser1583=)
c.4128G>A (p.Ser1376=)
c.4848G>A (p.Ser1616=)
c.5346G>A (p.Ser1782=)
c.2943G>A (p.Ser981=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366839G>ACA351187672COL6A3c.4730C>T (p.Ser1577Leu)
c.5348C>T (p.Ser1783Leu)
c.3527C>T (p.Ser1176Leu)
c.4748C>T (p.Ser1583Leu)
c.4127C>T (p.Ser1376Leu)
c.4847C>T (p.Ser1616Leu)
c.5345C>T (p.Ser1782Leu)
c.2942C>T (p.Ser981Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237366839G>CCA351187673COL6A3c.4730C>G (p.Ser1577Trp)
c.5348C>G (p.Ser1783Trp)
c.3527C>G (p.Ser1176Trp)
c.4748C>G (p.Ser1583Trp)
c.4127C>G (p.Ser1376Trp)
c.4847C>G (p.Ser1616Trp)
c.5345C>G (p.Ser1782Trp)
c.2942C>G (p.Ser981Trp)
2g.237366839G=CA1337620913COL6A3c.4730C= (p.Ser1577=)
c.5348C= (p.Ser1783=)
c.3527C= (p.Ser1176=)
c.4748C= (p.Ser1583=)
c.4127C= (p.Ser1376=)
c.4847C= (p.Ser1616=)
c.5345C= (p.Ser1782=)
c.2942C= (p.Ser981=)
2g.237366839G>TCA351187674COL6A3c.4730C>A (p.Ser1577Ter)
c.5348C>A (p.Ser1783Ter)
c.3527C>A (p.Ser1176Ter)
c.4748C>A (p.Ser1583Ter)
c.4127C>A (p.Ser1376Ter)
c.4847C>A (p.Ser1616Ter)
c.5345C>A (p.Ser1782Ter)
c.2942C>A (p.Ser981Ter)
2g.237366840A>CCA351187675COL6A3c.4729T>G (p.Ser1577Ala)
c.5347T>G (p.Ser1783Ala)
c.3526T>G (p.Ser1176Ala)
c.4747T>G (p.Ser1583Ala)
c.4126T>G (p.Ser1376Ala)
c.4846T>G (p.Ser1616Ala)
c.5344T>G (p.Ser1782Ala)
c.2941T>G (p.Ser981Ala)
 COSMIC
2g.237366840A>GCA351187676COL6A3c.4729T>C (p.Ser1577Pro)
c.5347T>C (p.Ser1783Pro)
c.3526T>C (p.Ser1176Pro)
c.4747T>C (p.Ser1583Pro)
c.4126T>C (p.Ser1376Pro)
c.4846T>C (p.Ser1616Pro)
c.5344T>C (p.Ser1782Pro)
c.2941T>C (p.Ser981Pro)
2g.237366840A>TCA351187677COL6A3c.4729T>A (p.Ser1577Thr)
c.5347T>A (p.Ser1783Thr)
c.3526T>A (p.Ser1176Thr)
c.4747T>A (p.Ser1583Thr)
c.4126T>A (p.Ser1376Thr)
c.4846T>A (p.Ser1616Thr)
c.5344T>A (p.Ser1782Thr)
c.2941T>A (p.Ser981Thr)
 COSMIC
2g.237366841G>ACA431710977COL6A3c.4728C>T (p.Asp1576=)
c.5346C>T (p.Asp1782=)
c.3525C>T (p.Asp1175=)
c.4746C>T (p.Asp1582=)
c.4125C>T (p.Asp1375=)
c.4845C>T (p.Asp1615=)
c.5343C>T (p.Asp1781=)
c.2940C>T (p.Asp980=)
2g.237366841G>CCA351187678COL6A3c.4728C>G (p.Asp1576Glu)
c.5346C>G (p.Asp1782Glu)
c.3525C>G (p.Asp1175Glu)
c.4746C>G (p.Asp1582Glu)
c.4125C>G (p.Asp1375Glu)
c.4845C>G (p.Asp1615Glu)
c.5343C>G (p.Asp1781Glu)
c.2940C>G (p.Asp980Glu)
2g.237366841G>TCA351187679COL6A3c.4728C>A (p.Asp1576Glu)
c.5346C>A (p.Asp1782Glu)
c.3525C>A (p.Asp1175Glu)
c.4746C>A (p.Asp1582Glu)
c.4125C>A (p.Asp1375Glu)
c.4845C>A (p.Asp1615Glu)
c.5343C>A (p.Asp1781Glu)
c.2940C>A (p.Asp980Glu)
2g.237366842T>ACA351187680COL6A3c.4727A>T (p.Asp1576Val)
c.5345A>T (p.Asp1782Val)
c.3524A>T (p.Asp1175Val)
c.4745A>T (p.Asp1582Val)
c.4124A>T (p.Asp1375Val)
c.4844A>T (p.Asp1615Val)
c.5342A>T (p.Asp1781Val)
c.2939A>T (p.Asp980Val)
 gnomAD v4
2g.237366842T>CCA351187681COL6A3c.4727A>G (p.Asp1576Gly)
c.5345A>G (p.Asp1782Gly)
c.3524A>G (p.Asp1175Gly)
c.4745A>G (p.Asp1582Gly)
c.4124A>G (p.Asp1375Gly)
c.4844A>G (p.Asp1615Gly)
c.5342A>G (p.Asp1781Gly)
c.2939A>G (p.Asp980Gly)
2g.237366842T>GCA351187682COL6A3c.4727A>C (p.Asp1576Ala)
c.5345A>C (p.Asp1782Ala)
c.3524A>C (p.Asp1175Ala)
c.4745A>C (p.Asp1582Ala)
c.4124A>C (p.Asp1375Ala)
c.4844A>C (p.Asp1615Ala)
c.5342A>C (p.Asp1781Ala)
c.2939A>C (p.Asp980Ala)
2g.237366843C>ACA351187683COL6A3c.4726G>T (p.Asp1576Tyr)
c.5344G>T (p.Asp1782Tyr)
c.3523G>T (p.Asp1175Tyr)
c.4744G>T (p.Asp1582Tyr)
c.4123G>T (p.Asp1375Tyr)
c.4843G>T (p.Asp1615Tyr)
c.5341G>T (p.Asp1781Tyr)
c.2938G>T (p.Asp980Tyr)
 gnomAD v4
2g.237366843C=CA1337620914COL6A3c.4726G= (p.Asp1576=)
c.5344G= (p.Asp1782=)
c.3523G= (p.Asp1175=)
c.4744G= (p.Asp1582=)
c.4123G= (p.Asp1375=)
c.4843G= (p.Asp1615=)
c.5341G= (p.Asp1781=)
c.2938G= (p.Asp980=)
2g.237366843C>GCA351187684COL6A3c.4726G>C (p.Asp1576His)
c.5344G>C (p.Asp1782His)
c.3523G>C (p.Asp1175His)
c.4744G>C (p.Asp1582His)
c.4123G>C (p.Asp1375His)
c.4843G>C (p.Asp1615His)
c.5341G>C (p.Asp1781His)
c.2938G>C (p.Asp980His)
2g.237366843C>TCA2188688COL6A3c.4726G>A (p.Asp1576Asn)
c.5344G>A (p.Asp1782Asn)
c.3523G>A (p.Asp1175Asn)
c.4744G>A (p.Asp1582Asn)
c.4123G>A (p.Asp1375Asn)
c.4843G>A (p.Asp1615Asn)
c.5341G>A (p.Asp1781Asn)
c.2938G>A (p.Asp980Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366844G>ACA2188689COL6A3c.4725C>T (p.Ile1575=)
c.5343C>T (p.Ile1781=)
c.3522C>T (p.Ile1174=)
c.4743C>T (p.Ile1581=)
c.4122C>T (p.Ile1374=)
c.4842C>T (p.Ile1614=)
c.5340C>T (p.Ile1780=)
c.2937C>T (p.Ile979=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366844G>CCA351187685COL6A3c.4725C>G (p.Ile1575Met)
c.5343C>G (p.Ile1781Met)
c.3522C>G (p.Ile1174Met)
c.4743C>G (p.Ile1581Met)
c.4122C>G (p.Ile1374Met)
c.4842C>G (p.Ile1614Met)
c.5340C>G (p.Ile1780Met)
c.2937C>G (p.Ile979Met)
2g.237366844G=CA1337620915COL6A3c.4725C= (p.Ile1575=)
c.5343C= (p.Ile1781=)
c.3522C= (p.Ile1174=)
c.4743C= (p.Ile1581=)
c.4122C= (p.Ile1374=)
c.4842C= (p.Ile1614=)
c.5340C= (p.Ile1780=)
c.2937C= (p.Ile979=)
2g.237366844G>TCA431710981COL6A3c.4725C>A (p.Ile1575=)
c.5343C>A (p.Ile1781=)
c.3522C>A (p.Ile1174=)
c.4743C>A (p.Ile1581=)
c.4122C>A (p.Ile1374=)
c.4842C>A (p.Ile1614=)
c.5340C>A (p.Ile1780=)
c.2937C>A (p.Ile979=)
 ClinVar gnomAD v4
2g.237366845A=CA1337620916COL6A3c.4724T= (p.Ile1575=)
c.5342T= (p.Ile1781=)
c.3521T= (p.Ile1174=)
c.4742T= (p.Ile1581=)
c.4121T= (p.Ile1374=)
c.4841T= (p.Ile1614=)
c.5339T= (p.Ile1780=)
c.2936T= (p.Ile979=)
2g.237366845A>CCA351187686COL6A3c.4724T>G (p.Ile1575Ser)
c.5342T>G (p.Ile1781Ser)
c.3521T>G (p.Ile1174Ser)
c.4742T>G (p.Ile1581Ser)
c.4121T>G (p.Ile1374Ser)
c.4841T>G (p.Ile1614Ser)
c.5339T>G (p.Ile1780Ser)
c.2936T>G (p.Ile979Ser)
2g.237366845A>GCA67814277COL6A3c.4724T>C (p.Ile1575Thr)
c.5342T>C (p.Ile1781Thr)
c.3521T>C (p.Ile1174Thr)
c.4742T>C (p.Ile1581Thr)
c.4121T>C (p.Ile1374Thr)
c.4841T>C (p.Ile1614Thr)
c.5339T>C (p.Ile1780Thr)
c.2936T>C (p.Ile979Thr)
 dbSNP
2g.237366845A>TCA351187687COL6A3c.4724T>A (p.Ile1575Asn)
c.5342T>A (p.Ile1781Asn)
c.3521T>A (p.Ile1174Asn)
c.4742T>A (p.Ile1581Asn)
c.4121T>A (p.Ile1374Asn)
c.4841T>A (p.Ile1614Asn)
c.5339T>A (p.Ile1780Asn)
c.2936T>A (p.Ile979Asn)
2g.237366846T>ACA351187688COL6A3c.4723A>T (p.Ile1575Phe)
c.5341A>T (p.Ile1781Phe)
c.3520A>T (p.Ile1174Phe)
c.4741A>T (p.Ile1581Phe)
c.4120A>T (p.Ile1374Phe)
c.4840A>T (p.Ile1614Phe)
c.5338A>T (p.Ile1780Phe)
c.2935A>T (p.Ile979Phe)
2g.237366846T>CCA239566COL6A3c.4723A>G (p.Ile1575Val)
c.5341A>G (p.Ile1781Val)
c.3520A>G (p.Ile1174Val)
c.4741A>G (p.Ile1581Val)
c.4120A>G (p.Ile1374Val)
c.4840A>G (p.Ile1614Val)
c.5338A>G (p.Ile1780Val)
c.2935A>G (p.Ile979Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366846T>GCA351187689COL6A3c.4723A>C (p.Ile1575Leu)
c.5341A>C (p.Ile1781Leu)
c.3520A>C (p.Ile1174Leu)
c.4741A>C (p.Ile1581Leu)
c.4120A>C (p.Ile1374Leu)
c.4840A>C (p.Ile1614Leu)
c.5338A>C (p.Ile1780Leu)
c.2935A>C (p.Ile979Leu)
2g.237366846T=CA1337620917COL6A3c.4723A= (p.Ile1575=)
c.5341A= (p.Ile1781=)
c.3520A= (p.Ile1174=)
c.4741A= (p.Ile1581=)
c.4120A= (p.Ile1374=)
c.4840A= (p.Ile1614=)
c.5338A= (p.Ile1780=)
c.2935A= (p.Ile979=)
2g.237366847A>CCA351187690COL6A3c.4722T>G (p.Asn1574Lys)
c.5340T>G (p.Asn1780Lys)
c.3519T>G (p.Asn1173Lys)
c.4740T>G (p.Asn1580Lys)
c.4119T>G (p.Asn1373Lys)
c.4839T>G (p.Asn1613Lys)
c.5337T>G (p.Asn1779Lys)
c.2934T>G (p.Asn978Lys)
2g.237366847A>GCA431710985COL6A3c.4722T>C (p.Asn1574=)
c.5340T>C (p.Asn1780=)
c.3519T>C (p.Asn1173=)
c.4740T>C (p.Asn1580=)
c.4119T>C (p.Asn1373=)
c.4839T>C (p.Asn1613=)
c.5337T>C (p.Asn1779=)
c.2934T>C (p.Asn978=)
 gnomAD v4
2g.237366847A>TCA351187691COL6A3c.4722T>A (p.Asn1574Lys)
c.5340T>A (p.Asn1780Lys)
c.3519T>A (p.Asn1173Lys)
c.4740T>A (p.Asn1580Lys)
c.4119T>A (p.Asn1373Lys)
c.4839T>A (p.Asn1613Lys)
c.5337T>A (p.Asn1779Lys)
c.2934T>A (p.Asn978Lys)
2g.237366848T>ACA351187692COL6A3c.4721A>T (p.Asn1574Ile)
c.5339A>T (p.Asn1780Ile)
c.3518A>T (p.Asn1173Ile)
c.4739A>T (p.Asn1580Ile)
c.4118A>T (p.Asn1373Ile)
c.4838A>T (p.Asn1613Ile)
c.5336A>T (p.Asn1779Ile)
c.2933A>T (p.Asn978Ile)
2g.237366848T>CCA67814314COL6A3c.4721A>G (p.Asn1574Ser)
c.5339A>G (p.Asn1780Ser)
c.3518A>G (p.Asn1173Ser)
c.4739A>G (p.Asn1580Ser)
c.4118A>G (p.Asn1373Ser)
c.4838A>G (p.Asn1613Ser)
c.5336A>G (p.Asn1779Ser)
c.2933A>G (p.Asn978Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237366848T>GCA351187693COL6A3c.4721A>C (p.Asn1574Thr)
c.5339A>C (p.Asn1780Thr)
c.3518A>C (p.Asn1173Thr)
c.4739A>C (p.Asn1580Thr)
c.4118A>C (p.Asn1373Thr)
c.4838A>C (p.Asn1613Thr)
c.5336A>C (p.Asn1779Thr)
c.2933A>C (p.Asn978Thr)
 gnomAD v4
2g.237366848T=CA1337620918COL6A3c.4721A= (p.Asn1574=)
c.5339A= (p.Asn1780=)
c.3518A= (p.Asn1173=)
c.4739A= (p.Asn1580=)
c.4118A= (p.Asn1373=)
c.4838A= (p.Asn1613=)
c.5336A= (p.Asn1779=)
c.2933A= (p.Asn978=)
2g.237366849T>ACA351187694COL6A3c.4720A>T (p.Asn1574Tyr)
c.5338A>T (p.Asn1780Tyr)
c.3517A>T (p.Asn1173Tyr)
c.4738A>T (p.Asn1580Tyr)
c.4117A>T (p.Asn1373Tyr)
c.4837A>T (p.Asn1613Tyr)
c.5335A>T (p.Asn1779Tyr)
c.2932A>T (p.Asn978Tyr)
2g.237366849T>CCA351187695COL6A3c.4720A>G (p.Asn1574Asp)
c.5338A>G (p.Asn1780Asp)
c.3517A>G (p.Asn1173Asp)
c.4738A>G (p.Asn1580Asp)
c.4117A>G (p.Asn1373Asp)
c.4837A>G (p.Asn1613Asp)
c.5335A>G (p.Asn1779Asp)
c.2932A>G (p.Asn978Asp)
2g.237366849T>GCA351187696COL6A3c.4720A>C (p.Asn1574His)
c.5338A>C (p.Asn1780His)
c.3517A>C (p.Asn1173His)
c.4738A>C (p.Asn1580His)
c.4117A>C (p.Asn1373His)
c.4837A>C (p.Asn1613His)
c.5335A>C (p.Asn1779His)
c.2932A>C (p.Asn978His)
2g.237366850C>ACA351187697COL6A3c.4719G>T (p.Arg1573Ser)
c.5337G>T (p.Arg1779Ser)
c.3516G>T (p.Arg1172Ser)
c.4737G>T (p.Arg1579Ser)
c.4116G>T (p.Arg1372Ser)
c.4836G>T (p.Arg1612Ser)
c.5334G>T (p.Arg1778Ser)
c.2931G>T (p.Arg977Ser)
2g.237366850C=CA1337620919COL6A3c.4719G= (p.Arg1573=)
c.5337G= (p.Arg1779=)
c.3516G= (p.Arg1172=)
c.4737G= (p.Arg1579=)
c.4116G= (p.Arg1372=)
c.4836G= (p.Arg1612=)
c.5334G= (p.Arg1778=)
c.2931G= (p.Arg977=)
2g.237366850C>GCA351187698COL6A3c.4719G>C (p.Arg1573Ser)
c.5337G>C (p.Arg1779Ser)
c.3516G>C (p.Arg1172Ser)
c.4737G>C (p.Arg1579Ser)
c.4116G>C (p.Arg1372Ser)
c.4836G>C (p.Arg1612Ser)
c.5334G>C (p.Arg1778Ser)
c.2931G>C (p.Arg977Ser)
2g.237366850C>TCA2188690COL6A3c.4719G>A (p.Arg1573=)
c.5337G>A (p.Arg1779=)
c.3516G>A (p.Arg1172=)
c.4737G>A (p.Arg1579=)
c.4116G>A (p.Arg1372=)
c.4836G>A (p.Arg1612=)
c.5334G>A (p.Arg1778=)
c.2931G>A (p.Arg977=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237366851C>ACA351187699COL6A3c.4718G>T (p.Arg1573Met)
c.5336G>T (p.Arg1779Met)
c.3515G>T (p.Arg1172Met)
c.4736G>T (p.Arg1579Met)
c.4115G>T (p.Arg1372Met)
c.4835G>T (p.Arg1612Met)
c.5333G>T (p.Arg1778Met)
c.2930G>T (p.Arg977Met)
2g.237366851C=CA1337620920COL6A3c.4718G= (p.Arg1573=)
c.5336G= (p.Arg1779=)
c.3515G= (p.Arg1172=)
c.4736G= (p.Arg1579=)
c.4115G= (p.Arg1372=)
c.4835G= (p.Arg1612=)
c.5333G= (p.Arg1778=)
c.2930G= (p.Arg977=)
2g.237366851C>GCA2188691COL6A3c.4718G>C (p.Arg1573Thr)
c.5336G>C (p.Arg1779Thr)
c.3515G>C (p.Arg1172Thr)
c.4736G>C (p.Arg1579Thr)
c.4115G>C (p.Arg1372Thr)
c.4835G>C (p.Arg1612Thr)
c.5333G>C (p.Arg1778Thr)
c.2930G>C (p.Arg977Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366851C>TCA351187700COL6A3c.4718G>A (p.Arg1573Lys)
c.5336G>A (p.Arg1779Lys)
c.3515G>A (p.Arg1172Lys)
c.4736G>A (p.Arg1579Lys)
c.4115G>A (p.Arg1372Lys)
c.4835G>A (p.Arg1612Lys)
c.5333G>A (p.Arg1778Lys)
c.2930G>A (p.Arg977Lys)
2g.237366852T>ACA351187701COL6A3c.4717A>T (p.Arg1573Trp)
c.5335A>T (p.Arg1779Trp)
c.3514A>T (p.Arg1172Trp)
c.4735A>T (p.Arg1579Trp)
c.4114A>T (p.Arg1372Trp)
c.4834A>T (p.Arg1612Trp)
c.5332A>T (p.Arg1778Trp)
c.2929A>T (p.Arg977Trp)
2g.237366852T>CCA351187702COL6A3c.4717A>G (p.Arg1573Gly)
c.5335A>G (p.Arg1779Gly)
c.3514A>G (p.Arg1172Gly)
c.4735A>G (p.Arg1579Gly)
c.4114A>G (p.Arg1372Gly)
c.4834A>G (p.Arg1612Gly)
c.5332A>G (p.Arg1778Gly)
c.2929A>G (p.Arg977Gly)
2g.237366852T>GCA431710996COL6A3c.4717A>C (p.Arg1573=)
c.5335A>C (p.Arg1779=)
c.3514A>C (p.Arg1172=)
c.4735A>C (p.Arg1579=)
c.4114A>C (p.Arg1372=)
c.4834A>C (p.Arg1612=)
c.5332A>C (p.Arg1778=)
c.2929A>C (p.Arg977=)
2g.237366853C>ACA2188692COL6A3c.4716G>T (p.Val1572=)
c.5334G>T (p.Val1778=)
c.3513G>T (p.Val1171=)
c.4734G>T (p.Val1578=)
c.4113G>T (p.Val1371=)
c.4833G>T (p.Val1611=)
c.5331G>T (p.Val1777=)
c.2928G>T (p.Val976=)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.237366853C=CA1337620921COL6A3c.4716G= (p.Val1572=)
c.5334G= (p.Val1778=)
c.3513G= (p.Val1171=)
c.4734G= (p.Val1578=)
c.4113G= (p.Val1371=)
c.4833G= (p.Val1611=)
c.5331G= (p.Val1777=)
c.2928G= (p.Val976=)
2g.237366853C>GCA431711001COL6A3c.4716G>C (p.Val1572=)
c.5334G>C (p.Val1778=)
c.3513G>C (p.Val1171=)
c.4734G>C (p.Val1578=)
c.4113G>C (p.Val1371=)
c.4833G>C (p.Val1611=)
c.5331G>C (p.Val1777=)
c.2928G>C (p.Val976=)
2g.237366853C>TCA431711002COL6A3c.4716G>A (p.Val1572=)
c.5334G>A (p.Val1778=)
c.3513G>A (p.Val1171=)
c.4734G>A (p.Val1578=)
c.4113G>A (p.Val1371=)
c.4833G>A (p.Val1611=)
c.5331G>A (p.Val1777=)
c.2928G>A (p.Val976=)
2g.237366854A=CA1337620922COL6A3c.4715T= (p.Val1572=)
c.5333T= (p.Val1778=)
c.3512T= (p.Val1171=)
c.4733T= (p.Val1578=)
c.4112T= (p.Val1371=)
c.4832T= (p.Val1611=)
c.5330T= (p.Val1777=)
c.2927T= (p.Val976=)
2g.237366854A>CCA351187703COL6A3c.4715T>G (p.Val1572Gly)
c.5333T>G (p.Val1778Gly)
c.3512T>G (p.Val1171Gly)
c.4733T>G (p.Val1578Gly)
c.4112T>G (p.Val1371Gly)
c.4832T>G (p.Val1611Gly)
c.5330T>G (p.Val1777Gly)
c.2927T>G (p.Val976Gly)
 gnomAD v4
2g.237366854A>GCA351187704COL6A3c.4715T>C (p.Val1572Ala)
c.5333T>C (p.Val1778Ala)
c.3512T>C (p.Val1171Ala)
c.4733T>C (p.Val1578Ala)
c.4112T>C (p.Val1371Ala)
c.4832T>C (p.Val1611Ala)
c.5330T>C (p.Val1777Ala)
c.2927T>C (p.Val976Ala)
2g.237366854A>TCA351187705COL6A3c.4715T>A (p.Val1572Glu)
c.5333T>A (p.Val1778Glu)
c.3512T>A (p.Val1171Glu)
c.4733T>A (p.Val1578Glu)
c.4112T>A (p.Val1371Glu)
c.4832T>A (p.Val1611Glu)
c.5330T>A (p.Val1777Glu)
c.2927T>A (p.Val976Glu)
 dbSNP gnomAD v4
2g.237366855C>ACA351187706COL6A3c.4714G>T (p.Val1572Leu)
c.5332G>T (p.Val1778Leu)
c.3511G>T (p.Val1171Leu)
c.4732G>T (p.Val1578Leu)
c.4111G>T (p.Val1371Leu)
c.4831G>T (p.Val1611Leu)
c.5329G>T (p.Val1777Leu)
c.2926G>T (p.Val976Leu)
2g.237366855C=CA1337620923COL6A3c.4714G= (p.Val1572=)
c.5332G= (p.Val1778=)
c.3511G= (p.Val1171=)
c.4732G= (p.Val1578=)
c.4111G= (p.Val1371=)
c.4831G= (p.Val1611=)
c.5329G= (p.Val1777=)
c.2926G= (p.Val976=)
2g.237366855C>GCA351187707COL6A3c.4714G>C (p.Val1572Leu)
c.5332G>C (p.Val1778Leu)
c.3511G>C (p.Val1171Leu)
c.4732G>C (p.Val1578Leu)
c.4111G>C (p.Val1371Leu)
c.4831G>C (p.Val1611Leu)
c.5329G>C (p.Val1777Leu)
c.2926G>C (p.Val976Leu)
2g.237366855C>TCA351187708COL6A3c.4714G>A (p.Val1572Met)
c.5332G>A (p.Val1778Met)
c.3511G>A (p.Val1171Met)
c.4732G>A (p.Val1578Met)
c.4111G>A (p.Val1371Met)
c.4831G>A (p.Val1611Met)
c.5329G>A (p.Val1777Met)
c.2926G>A (p.Val976Met)
 dbSNP gnomAD v2 gnomAD v4
2g.237366856T>ACA431711005COL6A3c.4713A>T (p.Gly1571=)
c.5331A>T (p.Gly1777=)
c.3510A>T (p.Gly1170=)
c.4731A>T (p.Gly1577=)
c.4110A>T (p.Gly1370=)
c.4830A>T (p.Gly1610=)
c.5328A>T (p.Gly1776=)
c.2925A>T (p.Gly975=)
2g.237366856T>CCA431711006COL6A3c.4713A>G (p.Gly1571=)
c.5331A>G (p.Gly1777=)
c.3510A>G (p.Gly1170=)
c.4731A>G (p.Gly1577=)
c.4110A>G (p.Gly1370=)
c.4830A>G (p.Gly1610=)
c.5328A>G (p.Gly1776=)
c.2925A>G (p.Gly975=)
2g.237366856T>GCA431711007COL6A3c.4713A>C (p.Gly1571=)
c.5331A>C (p.Gly1777=)
c.3510A>C (p.Gly1170=)
c.4731A>C (p.Gly1577=)
c.4110A>C (p.Gly1370=)
c.4830A>C (p.Gly1610=)
c.5328A>C (p.Gly1776=)
c.2925A>C (p.Gly975=)
2g.237366857C>ACA351187709COL6A3c.4712G>T (p.Gly1571Val)
c.5330G>T (p.Gly1777Val)
c.3509G>T (p.Gly1170Val)
c.4730G>T (p.Gly1577Val)
c.4109G>T (p.Gly1370Val)
c.4829G>T (p.Gly1610Val)
c.5327G>T (p.Gly1776Val)
c.2924G>T (p.Gly975Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237366857C=CA1337620924COL6A3c.4712G= (p.Gly1571=)
c.5330G= (p.Gly1777=)
c.3509G= (p.Gly1170=)
c.4730G= (p.Gly1577=)
c.4109G= (p.Gly1370=)
c.4829G= (p.Gly1610=)
c.5327G= (p.Gly1776=)
c.2924G= (p.Gly975=)
2g.237366857C>GCA351187710COL6A3c.4712G>C (p.Gly1571Ala)
c.5330G>C (p.Gly1777Ala)
c.3509G>C (p.Gly1170Ala)
c.4730G>C (p.Gly1577Ala)
c.4109G>C (p.Gly1370Ala)
c.4829G>C (p.Gly1610Ala)
c.5327G>C (p.Gly1776Ala)
c.2924G>C (p.Gly975Ala)
2g.237366857C>TCA351187711COL6A3c.4712G>A (p.Gly1571Glu)
c.5330G>A (p.Gly1777Glu)
c.3509G>A (p.Gly1170Glu)
c.4730G>A (p.Gly1577Glu)
c.4109G>A (p.Gly1370Glu)
c.4829G>A (p.Gly1610Glu)
c.5327G>A (p.Gly1776Glu)
c.2924G>A (p.Gly975Glu)
 ClinVar
2g.237366858C>ACA351187714COL6A3c.4711G>T (p.Gly1571Ter)
c.5329G>T (p.Gly1777Ter)
c.3508G>T (p.Gly1170Ter)
c.4729G>T (p.Gly1577Ter)
c.4108G>T (p.Gly1370Ter)
c.4828G>T (p.Gly1610Ter)
c.5326G>T (p.Gly1776Ter)
c.2923G>T (p.Gly975Ter)
 gnomAD v4
2g.237366858C>GCA351187712COL6A3c.4711G>C (p.Gly1571Arg)
c.5329G>C (p.Gly1777Arg)
c.3508G>C (p.Gly1170Arg)
c.4729G>C (p.Gly1577Arg)
c.4108G>C (p.Gly1370Arg)
c.4828G>C (p.Gly1610Arg)
c.5326G>C (p.Gly1776Arg)
c.2923G>C (p.Gly975Arg)
2g.237366858C>TCA351187713COL6A3c.4711G>A (p.Gly1571Arg)
c.5329G>A (p.Gly1777Arg)
c.3508G>A (p.Gly1170Arg)
c.4729G>A (p.Gly1577Arg)
c.4108G>A (p.Gly1370Arg)
c.4828G>A (p.Gly1610Arg)
c.5326G>A (p.Gly1776Arg)
c.2923G>A (p.Gly975Arg)
 gnomAD v4
2g.237366859A>CCA431711016COL6A3c.4710T>G (p.Val1570=)
c.5328T>G (p.Val1776=)
c.3507T>G (p.Val1169=)
c.4728T>G (p.Val1576=)
c.4107T>G (p.Val1369=)
c.4827T>G (p.Val1609=)
c.5325T>G (p.Val1775=)
c.2922T>G (p.Val974=)
2g.237366859A>GCA431711012COL6A3c.4710T>C (p.Val1570=)
c.5328T>C (p.Val1776=)
c.3507T>C (p.Val1169=)
c.4728T>C (p.Val1576=)
c.4107T>C (p.Val1369=)
c.4827T>C (p.Val1609=)
c.5325T>C (p.Val1775=)
c.2922T>C (p.Val974=)
2g.237366859A>TCA431711014COL6A3c.4710T>A (p.Val1570=)
c.5328T>A (p.Val1776=)
c.3507T>A (p.Val1169=)
c.4728T>A (p.Val1576=)
c.4107T>A (p.Val1369=)
c.4827T>A (p.Val1609=)
c.5325T>A (p.Val1775=)
c.2922T>A (p.Val974=)
2g.237366860A=CA1337620925COL6A3c.4709T= (p.Val1570=)
c.5327T= (p.Val1776=)
c.3506T= (p.Val1169=)
c.4727T= (p.Val1576=)
c.4106T= (p.Val1369=)
c.4826T= (p.Val1609=)
c.5324T= (p.Val1775=)
c.2921T= (p.Val974=)
2g.237366860A>CCA351187715COL6A3c.4709T>G (p.Val1570Gly)
c.5327T>G (p.Val1776Gly)
c.3506T>G (p.Val1169Gly)
c.4727T>G (p.Val1576Gly)
c.4106T>G (p.Val1369Gly)
c.4826T>G (p.Val1609Gly)
c.5324T>G (p.Val1775Gly)
c.2921T>G (p.Val974Gly)
2g.237366860A>GCA351187716COL6A3c.4709T>C (p.Val1570Ala)
c.5327T>C (p.Val1776Ala)
c.3506T>C (p.Val1169Ala)
c.4727T>C (p.Val1576Ala)
c.4106T>C (p.Val1369Ala)
c.4826T>C (p.Val1609Ala)
c.5324T>C (p.Val1775Ala)
c.2921T>C (p.Val974Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.237366860A>TCA351187717COL6A3c.4709T>A (p.Val1570Asp)
c.5327T>A (p.Val1776Asp)
c.3506T>A (p.Val1169Asp)
c.4727T>A (p.Val1576Asp)
c.4106T>A (p.Val1369Asp)
c.4826T>A (p.Val1609Asp)
c.5324T>A (p.Val1775Asp)
c.2921T>A (p.Val974Asp)
2g.237366861C>ACA2188693COL6A3c.4708G>T (p.Val1570Phe)
c.5326G>T (p.Val1776Phe)
c.3505G>T (p.Val1169Phe)
c.4726G>T (p.Val1576Phe)
c.4105G>T (p.Val1369Phe)
c.4825G>T (p.Val1609Phe)
c.5323G>T (p.Val1775Phe)
c.2920G>T (p.Val974Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366861C=CA1337620926COL6A3c.4708G= (p.Val1570=)
c.5326G= (p.Val1776=)
c.3505G= (p.Val1169=)
c.4726G= (p.Val1576=)
c.4105G= (p.Val1369=)
c.4825G= (p.Val1609=)
c.5323G= (p.Val1775=)
c.2920G= (p.Val974=)
2g.237366861C>GCA351187718COL6A3c.4708G>C (p.Val1570Leu)
c.5326G>C (p.Val1776Leu)
c.3505G>C (p.Val1169Leu)
c.4726G>C (p.Val1576Leu)
c.4105G>C (p.Val1369Leu)
c.4825G>C (p.Val1609Leu)
c.5323G>C (p.Val1775Leu)
c.2920G>C (p.Val974Leu)
2g.237366861C>TCA351187719COL6A3c.4708G>A (p.Val1570Ile)
c.5326G>A (p.Val1776Ile)
c.3505G>A (p.Val1169Ile)
c.4726G>A (p.Val1576Ile)
c.4105G>A (p.Val1369Ile)
c.4825G>A (p.Val1609Ile)
c.5323G>A (p.Val1775Ile)
c.2920G>A (p.Val974Ile)
2g.237366862A>CCA431711023COL6A3c.4707T>G (p.Ala1569=)
c.5325T>G (p.Ala1775=)
c.3504T>G (p.Ala1168=)
c.4725T>G (p.Ala1575=)
c.4104T>G (p.Ala1368=)
c.4824T>G (p.Ala1608=)
c.5322T>G (p.Ala1774=)
c.2919T>G (p.Ala973=)
2g.237366862A>GCA431711024COL6A3c.4707T>C (p.Ala1569=)
c.5325T>C (p.Ala1775=)
c.3504T>C (p.Ala1168=)
c.4725T>C (p.Ala1575=)
c.4104T>C (p.Ala1368=)
c.4824T>C (p.Ala1608=)
c.5322T>C (p.Ala1774=)
c.2919T>C (p.Ala973=)
 gnomAD v4
2g.237366862A>TCA431711025COL6A3c.4707T>A (p.Ala1569=)
c.5325T>A (p.Ala1775=)
c.3504T>A (p.Ala1168=)
c.4725T>A (p.Ala1575=)
c.4104T>A (p.Ala1368=)
c.4824T>A (p.Ala1608=)
c.5322T>A (p.Ala1774=)
c.2919T>A (p.Ala973=)
2g.237366863G>ACA351187720COL6A3c.4706C>T (p.Ala1569Val)
c.5324C>T (p.Ala1775Val)
c.3503C>T (p.Ala1168Val)
c.4724C>T (p.Ala1575Val)
c.4103C>T (p.Ala1368Val)
c.4823C>T (p.Ala1608Val)
c.5321C>T (p.Ala1774Val)
c.2918C>T (p.Ala973Val)
2g.237366863G>CCA351187721COL6A3c.4706C>G (p.Ala1569Gly)
c.5324C>G (p.Ala1775Gly)
c.3503C>G (p.Ala1168Gly)
c.4724C>G (p.Ala1575Gly)
c.4103C>G (p.Ala1368Gly)
c.4823C>G (p.Ala1608Gly)
c.5321C>G (p.Ala1774Gly)
c.2918C>G (p.Ala973Gly)
2g.237366863G>TCA351187722COL6A3c.4706C>A (p.Ala1569Asp)
c.5324C>A (p.Ala1775Asp)
c.3503C>A (p.Ala1168Asp)
c.4724C>A (p.Ala1575Asp)
c.4103C>A (p.Ala1368Asp)
c.4823C>A (p.Ala1608Asp)
c.5321C>A (p.Ala1774Asp)
c.2918C>A (p.Ala973Asp)
2g.237366864C>ACA351187723COL6A3c.4705G>T (p.Ala1569Ser)
c.5323G>T (p.Ala1775Ser)
c.3502G>T (p.Ala1168Ser)
c.4723G>T (p.Ala1575Ser)
c.4102G>T (p.Ala1368Ser)
c.4822G>T (p.Ala1608Ser)
c.5320G>T (p.Ala1774Ser)
c.2917G>T (p.Ala973Ser)
2g.237366864C=CA1337620927COL6A3c.4705G= (p.Ala1569=)
c.5323G= (p.Ala1775=)
c.3502G= (p.Ala1168=)
c.4723G= (p.Ala1575=)
c.4102G= (p.Ala1368=)
c.4822G= (p.Ala1608=)
c.5320G= (p.Ala1774=)
c.2917G= (p.Ala973=)
2g.237366864C>GCA2188694COL6A3c.4705G>C (p.Ala1569Pro)
c.5323G>C (p.Ala1775Pro)
c.3502G>C (p.Ala1168Pro)
c.4723G>C (p.Ala1575Pro)
c.4102G>C (p.Ala1368Pro)
c.4822G>C (p.Ala1608Pro)
c.5320G>C (p.Ala1774Pro)
c.2917G>C (p.Ala973Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366864C>TCA351187724COL6A3c.4705G>A (p.Ala1569Thr)
c.5323G>A (p.Ala1775Thr)
c.3502G>A (p.Ala1168Thr)
c.4723G>A (p.Ala1575Thr)
c.4102G>A (p.Ala1368Thr)
c.4822G>A (p.Ala1608Thr)
c.5320G>A (p.Ala1774Thr)
c.2917G>A (p.Ala973Thr)
2g.237366865A>CCA351187725COL6A3c.4704T>G (p.Phe1568Leu)
c.5322T>G (p.Phe1774Leu)
c.3501T>G (p.Phe1167Leu)
c.4722T>G (p.Phe1574Leu)
c.4101T>G (p.Phe1367Leu)
c.4821T>G (p.Phe1607Leu)
c.5319T>G (p.Phe1773Leu)
c.2916T>G (p.Phe972Leu)
2g.237366865A>GCA431711030COL6A3c.4704T>C (p.Phe1568=)
c.5322T>C (p.Phe1774=)
c.3501T>C (p.Phe1167=)
c.4722T>C (p.Phe1574=)
c.4101T>C (p.Phe1367=)
c.4821T>C (p.Phe1607=)
c.5319T>C (p.Phe1773=)
c.2916T>C (p.Phe972=)
2g.237366865A>TCA351187726COL6A3c.4704T>A (p.Phe1568Leu)
c.5322T>A (p.Phe1774Leu)
c.3501T>A (p.Phe1167Leu)
c.4722T>A (p.Phe1574Leu)
c.4101T>A (p.Phe1367Leu)
c.4821T>A (p.Phe1607Leu)
c.5319T>A (p.Phe1773Leu)
c.2916T>A (p.Phe972Leu)
2g.237366866A>CCA351187727COL6A3c.4703T>G (p.Phe1568Cys)
c.5321T>G (p.Phe1774Cys)
c.3500T>G (p.Phe1167Cys)
c.4721T>G (p.Phe1574Cys)
c.4100T>G (p.Phe1367Cys)
c.4820T>G (p.Phe1607Cys)
c.5318T>G (p.Phe1773Cys)
c.2915T>G (p.Phe972Cys)
2g.237366866A>GCA351187728COL6A3c.4703T>C (p.Phe1568Ser)
c.5321T>C (p.Phe1774Ser)
c.3500T>C (p.Phe1167Ser)
c.4721T>C (p.Phe1574Ser)
c.4100T>C (p.Phe1367Ser)
c.4820T>C (p.Phe1607Ser)
c.5318T>C (p.Phe1773Ser)
c.2915T>C (p.Phe972Ser)
2g.237366866A>TCA351187729COL6A3c.4703T>A (p.Phe1568Tyr)
c.5321T>A (p.Phe1774Tyr)
c.3500T>A (p.Phe1167Tyr)
c.4721T>A (p.Phe1574Tyr)
c.4100T>A (p.Phe1367Tyr)
c.4820T>A (p.Phe1607Tyr)
c.5318T>A (p.Phe1773Tyr)
c.2915T>A (p.Phe972Tyr)
2g.237366867A>CCA351187730COL6A3c.4702T>G (p.Phe1568Val)
c.5320T>G (p.Phe1774Val)
c.3499T>G (p.Phe1167Val)
c.4720T>G (p.Phe1574Val)
c.4099T>G (p.Phe1367Val)
c.4819T>G (p.Phe1607Val)
c.5317T>G (p.Phe1773Val)
c.2914T>G (p.Phe972Val)
2g.237366867A>GCA351187731COL6A3c.4702T>C (p.Phe1568Leu)
c.5320T>C (p.Phe1774Leu)
c.3499T>C (p.Phe1167Leu)
c.4720T>C (p.Phe1574Leu)
c.4099T>C (p.Phe1367Leu)
c.4819T>C (p.Phe1607Leu)
c.5317T>C (p.Phe1773Leu)
c.2914T>C (p.Phe972Leu)
2g.237366867A>TCA351187732COL6A3c.4702T>A (p.Phe1568Ile)
c.5320T>A (p.Phe1774Ile)
c.3499T>A (p.Phe1167Ile)
c.4720T>A (p.Phe1574Ile)
c.4099T>A (p.Phe1367Ile)
c.4819T>A (p.Phe1607Ile)
c.5317T>A (p.Phe1773Ile)
c.2914T>A (p.Phe972Ile)
2g.237366868C>ACA431711034COL6A3c.4701G>T (p.Val1567=)
c.5319G>T (p.Val1773=)
c.3498G>T (p.Val1166=)
c.4719G>T (p.Val1573=)
c.4098G>T (p.Val1366=)
c.4818G>T (p.Val1606=)
c.5316G>T (p.Val1772=)
c.2913G>T (p.Val971=)
2g.237366868C=CA1337620928COL6A3c.4701G= (p.Val1567=)
c.5319G= (p.Val1773=)
c.3498G= (p.Val1166=)
c.4719G= (p.Val1573=)
c.4098G= (p.Val1366=)
c.4818G= (p.Val1606=)
c.5316G= (p.Val1772=)
c.2913G= (p.Val971=)
2g.237366868C>GCA431711035COL6A3c.4701G>C (p.Val1567=)
c.5319G>C (p.Val1773=)
c.3498G>C (p.Val1166=)
c.4719G>C (p.Val1573=)
c.4098G>C (p.Val1366=)
c.4818G>C (p.Val1606=)
c.5316G>C (p.Val1772=)
c.2913G>C (p.Val971=)
2g.237366868C>TCA2188695COL6A3c.4701G>A (p.Val1567=)
c.5319G>A (p.Val1773=)
c.3498G>A (p.Val1166=)
c.4719G>A (p.Val1573=)
c.4098G>A (p.Val1366=)
c.4818G>A (p.Val1606=)
c.5316G>A (p.Val1772=)
c.2913G>A (p.Val971=)
 dbSNP ExAC gnomAD v2
2g.237366869A=CA1337620929COL6A3c.4700T= (p.Val1567=)
c.5318T= (p.Val1773=)
c.3497T= (p.Val1166=)
c.4718T= (p.Val1573=)
c.4097T= (p.Val1366=)
c.4817T= (p.Val1606=)
c.5315T= (p.Val1772=)
c.2912T= (p.Val971=)
2g.237366869A>CCA351187733COL6A3c.4700T>G (p.Val1567Gly)
c.5318T>G (p.Val1773Gly)
c.3497T>G (p.Val1166Gly)
c.4718T>G (p.Val1573Gly)
c.4097T>G (p.Val1366Gly)
c.4817T>G (p.Val1606Gly)
c.5315T>G (p.Val1772Gly)
c.2912T>G (p.Val971Gly)
2g.237366869A>GCA2188696COL6A3c.4700T>C (p.Val1567Ala)
c.5318T>C (p.Val1773Ala)
c.3497T>C (p.Val1166Ala)
c.4718T>C (p.Val1573Ala)
c.4097T>C (p.Val1366Ala)
c.4817T>C (p.Val1606Ala)
c.5315T>C (p.Val1772Ala)
c.2912T>C (p.Val971Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366869A>TCA351187734COL6A3c.4700T>A (p.Val1567Glu)
c.5318T>A (p.Val1773Glu)
c.3497T>A (p.Val1166Glu)
c.4718T>A (p.Val1573Glu)
c.4097T>A (p.Val1366Glu)
c.4817T>A (p.Val1606Glu)
c.5315T>A (p.Val1772Glu)
c.2912T>A (p.Val971Glu)
2g.237366870C>ACA351187735COL6A3c.4699G>T (p.Val1567Leu)
c.5317G>T (p.Val1773Leu)
c.3496G>T (p.Val1166Leu)
c.4717G>T (p.Val1573Leu)
c.4096G>T (p.Val1366Leu)
c.4816G>T (p.Val1606Leu)
c.5314G>T (p.Val1772Leu)
c.2911G>T (p.Val971Leu)
2g.237366870C=CA1337620930COL6A3c.4699G= (p.Val1567=)
c.5317G= (p.Val1773=)
c.3496G= (p.Val1166=)
c.4717G= (p.Val1573=)
c.4096G= (p.Val1366=)
c.4816G= (p.Val1606=)
c.5314G= (p.Val1772=)
c.2911G= (p.Val971=)
2g.237366870C>GCA351187737COL6A3c.4699G>C (p.Val1567Leu)
c.5317G>C (p.Val1773Leu)
c.3496G>C (p.Val1166Leu)
c.4717G>C (p.Val1573Leu)
c.4096G>C (p.Val1366Leu)
c.4816G>C (p.Val1606Leu)
c.5314G>C (p.Val1772Leu)
c.2911G>C (p.Val971Leu)
2g.237366870C>TCA2188697COL6A3c.4699G>A (p.Val1567Met)
c.5317G>A (p.Val1773Met)
c.3496G>A (p.Val1166Met)
c.4717G>A (p.Val1573Met)
c.4096G>A (p.Val1366Met)
c.4816G>A (p.Val1606Met)
c.5314G>A (p.Val1772Met)
c.2911G>A (p.Val971Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366871T>ACA351187739COL6A3c.4698A>T (p.Lys1566Asn)
c.5316A>T (p.Lys1772Asn)
c.3495A>T (p.Lys1165Asn)
c.4716A>T (p.Lys1572Asn)
c.4095A>T (p.Lys1365Asn)
c.4815A>T (p.Lys1605Asn)
c.5313A>T (p.Lys1771Asn)
c.2910A>T (p.Lys970Asn)
2g.237366871T>CCA431711044COL6A3c.4698A>G (p.Lys1566=)
c.5316A>G (p.Lys1772=)
c.3495A>G (p.Lys1165=)
c.4716A>G (p.Lys1572=)
c.4095A>G (p.Lys1365=)
c.4815A>G (p.Lys1605=)
c.5313A>G (p.Lys1771=)
c.2910A>G (p.Lys970=)
2g.237366871T>GCA351187738COL6A3c.4698A>C (p.Lys1566Asn)
c.5316A>C (p.Lys1772Asn)
c.3495A>C (p.Lys1165Asn)
c.4716A>C (p.Lys1572Asn)
c.4095A>C (p.Lys1365Asn)
c.4815A>C (p.Lys1605Asn)
c.5313A>C (p.Lys1771Asn)
c.2910A>C (p.Lys970Asn)
2g.237366872T>ACA351187740COL6A3c.4697A>T (p.Lys1566Ile)
c.5315A>T (p.Lys1772Ile)
c.3494A>T (p.Lys1165Ile)
c.4715A>T (p.Lys1572Ile)
c.4094A>T (p.Lys1365Ile)
c.4814A>T (p.Lys1605Ile)
c.5312A>T (p.Lys1771Ile)
c.2909A>T (p.Lys970Ile)
2g.237366872T>CCA2188698COL6A3c.4697A>G (p.Lys1566Arg)
c.5315A>G (p.Lys1772Arg)
c.3494A>G (p.Lys1165Arg)
c.4715A>G (p.Lys1572Arg)
c.4094A>G (p.Lys1365Arg)
c.4814A>G (p.Lys1605Arg)
c.5312A>G (p.Lys1771Arg)
c.2909A>G (p.Lys970Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366872T>GCA351187741COL6A3c.4697A>C (p.Lys1566Thr)
c.5315A>C (p.Lys1772Thr)
c.3494A>C (p.Lys1165Thr)
c.4715A>C (p.Lys1572Thr)
c.4094A>C (p.Lys1365Thr)
c.4814A>C (p.Lys1605Thr)
c.5312A>C (p.Lys1771Thr)
c.2909A>C (p.Lys970Thr)
2g.237366872T=CA1337620931COL6A3c.4697A= (p.Lys1566=)
c.5315A= (p.Lys1772=)
c.3494A= (p.Lys1165=)
c.4715A= (p.Lys1572=)
c.4094A= (p.Lys1365=)
c.4814A= (p.Lys1605=)
c.5312A= (p.Lys1771=)
c.2909A= (p.Lys970=)
2g.237366873T>ACA351187742COL6A3c.4696A>T (p.Lys1566Ter)
c.5314A>T (p.Lys1772Ter)
c.3493A>T (p.Lys1165Ter)
c.4714A>T (p.Lys1572Ter)
c.4093A>T (p.Lys1365Ter)
c.4813A>T (p.Lys1605Ter)
c.5311A>T (p.Lys1771Ter)
c.2908A>T (p.Lys970Ter)
2g.237366873T>CCA351187743COL6A3c.4696A>G (p.Lys1566Glu)
c.5314A>G (p.Lys1772Glu)
c.3493A>G (p.Lys1165Glu)
c.4714A>G (p.Lys1572Glu)
c.4093A>G (p.Lys1365Glu)
c.4813A>G (p.Lys1605Glu)
c.5311A>G (p.Lys1771Glu)
c.2908A>G (p.Lys970Glu)
2g.237366873T>GCA351187744COL6A3c.4696A>C (p.Lys1566Gln)
c.5314A>C (p.Lys1772Gln)
c.3493A>C (p.Lys1165Gln)
c.4714A>C (p.Lys1572Gln)
c.4093A>C (p.Lys1365Gln)
c.4813A>C (p.Lys1605Gln)
c.5311A>C (p.Lys1771Gln)
c.2908A>C (p.Lys970Gln)
2g.237366874G>ACA431711052COL6A3c.4695C>T (p.Val1565=)
c.5313C>T (p.Val1771=)
c.3492C>T (p.Val1164=)
c.4713C>T (p.Val1571=)
c.4092C>T (p.Val1364=)
c.4812C>T (p.Val1604=)
c.5310C>T (p.Val1770=)
c.2907C>T (p.Val969=)
2g.237366874G>CCA2188699COL6A3c.4695C>G (p.Val1565=)
c.5313C>G (p.Val1771=)
c.3492C>G (p.Val1164=)
c.4713C>G (p.Val1571=)
c.4092C>G (p.Val1364=)
c.4812C>G (p.Val1604=)
c.5310C>G (p.Val1770=)
c.2907C>G (p.Val969=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366874G=CA1337620932COL6A3c.4695C= (p.Val1565=)
c.5313C= (p.Val1771=)
c.3492C= (p.Val1164=)
c.4713C= (p.Val1571=)
c.4092C= (p.Val1364=)
c.4812C= (p.Val1604=)
c.5310C= (p.Val1770=)
c.2907C= (p.Val969=)
2g.237366874G>TCA431711053COL6A3c.4695C>A (p.Val1565=)
c.5313C>A (p.Val1771=)
c.3492C>A (p.Val1164=)
c.4713C>A (p.Val1571=)
c.4092C>A (p.Val1364=)
c.4812C>A (p.Val1604=)
c.5310C>A (p.Val1770=)
c.2907C>A (p.Val969=)
2g.237366875A=CA1337620933COL6A3c.4694T= (p.Val1565=)
c.5312T= (p.Val1771=)
c.3491T= (p.Val1164=)
c.4712T= (p.Val1571=)
c.4091T= (p.Val1364=)
c.4811T= (p.Val1604=)
c.5309T= (p.Val1770=)
c.2906T= (p.Val969=)
2g.237366875A>CCA2188700COL6A3c.4694T>G (p.Val1565Gly)
c.5312T>G (p.Val1771Gly)
c.3491T>G (p.Val1164Gly)
c.4712T>G (p.Val1571Gly)
c.4091T>G (p.Val1364Gly)
c.4811T>G (p.Val1604Gly)
c.5309T>G (p.Val1770Gly)
c.2906T>G (p.Val969Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366875A>GCA351187745COL6A3c.4694T>C (p.Val1565Ala)
c.5312T>C (p.Val1771Ala)
c.3491T>C (p.Val1164Ala)
c.4712T>C (p.Val1571Ala)
c.4091T>C (p.Val1364Ala)
c.4811T>C (p.Val1604Ala)
c.5309T>C (p.Val1770Ala)
c.2906T>C (p.Val969Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.237366875A>TCA67814368COL6A3c.4694T>A (p.Val1565Asp)
c.5312T>A (p.Val1771Asp)
c.3491T>A (p.Val1164Asp)
c.4712T>A (p.Val1571Asp)
c.4091T>A (p.Val1364Asp)
c.4811T>A (p.Val1604Asp)
c.5309T>A (p.Val1770Asp)
c.2906T>A (p.Val969Asp)
 dbSNP
2g.237366876C>ACA351187746COL6A3c.4693G>T (p.Val1565Phe)
c.5311G>T (p.Val1771Phe)
c.3490G>T (p.Val1164Phe)
c.4711G>T (p.Val1571Phe)
c.4090G>T (p.Val1364Phe)
c.4810G>T (p.Val1604Phe)
c.5308G>T (p.Val1770Phe)
c.2905G>T (p.Val969Phe)
2g.237366876C=CA1337620934COL6A3c.4693G= (p.Val1565=)
c.5311G= (p.Val1771=)
c.3490G= (p.Val1164=)
c.4711G= (p.Val1571=)
c.4090G= (p.Val1364=)
c.4810G= (p.Val1604=)
c.5308G= (p.Val1770=)
c.2905G= (p.Val969=)
2g.237366876C>GCA351187747COL6A3c.4693G>C (p.Val1565Leu)
c.5311G>C (p.Val1771Leu)
c.3490G>C (p.Val1164Leu)
c.4711G>C (p.Val1571Leu)
c.4090G>C (p.Val1364Leu)
c.4810G>C (p.Val1604Leu)
c.5308G>C (p.Val1770Leu)
c.2905G>C (p.Val969Leu)
 ClinVar dbSNP gnomAD v4
2g.237366876C>TCA351187748COL6A3c.4693G>A (p.Val1565Ile)
c.5311G>A (p.Val1771Ile)
c.3490G>A (p.Val1164Ile)
c.4711G>A (p.Val1571Ile)
c.4090G>A (p.Val1364Ile)
c.4810G>A (p.Val1604Ile)
c.5308G>A (p.Val1770Ile)
c.2905G>A (p.Val969Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.237366881dupCA2663798499COL6A3c.4693dup (p.Val1565GlyfsTer?)
c.5311dup (p.Val1771GlyfsTer?)
c.3490dup (p.Val1164GlyfsTer?)
c.4711dup (p.Val1571GlyfsTer?)
c.4090dup (p.Val1364GlyfsTer?)
c.4810dup (p.Val1604GlyfsTer?)
c.5308dup (p.Val1770GlyfsTer?)
c.2905dup (p.Val969GlyfsTer?)
 gnomAD v4
2g.237366881delCA645514273COL6A3c.4693del (p.Val1565SerfsTer8)
c.5311del (p.Val1771SerfsTer8)
c.3490del (p.Val1164SerfsTer8)
c.4711del (p.Val1571SerfsTer8)
c.4090del (p.Val1364SerfsTer8)
c.4810del (p.Val1604SerfsTer8)
c.5308del (p.Val1770SerfsTer8)
c.2905del (p.Val969SerfsTer8)
 ClinVar COSMIC
2g.237366877C>ACA431711066COL6A3c.4692G>T (p.Gly1564=)
c.5310G>T (p.Gly1770=)
c.3489G>T (p.Gly1163=)
c.4710G>T (p.Gly1570=)
c.4089G>T (p.Gly1363=)
c.4809G>T (p.Gly1603=)
c.5307G>T (p.Gly1769=)
c.2904G>T (p.Gly968=)
2g.237366877C=CA1337620935COL6A3c.4692G= (p.Gly1564=)
c.5310G= (p.Gly1770=)
c.3489G= (p.Gly1163=)
c.4710G= (p.Gly1570=)
c.4089G= (p.Gly1363=)
c.4809G= (p.Gly1603=)
c.5307G= (p.Gly1769=)
c.2904G= (p.Gly968=)
2g.237366877C>GCA431711068COL6A3c.4692G>C (p.Gly1564=)
c.5310G>C (p.Gly1770=)
c.3489G>C (p.Gly1163=)
c.4710G>C (p.Gly1570=)
c.4089G>C (p.Gly1363=)
c.4809G>C (p.Gly1603=)
c.5307G>C (p.Gly1769=)
c.2904G>C (p.Gly968=)
 gnomAD v4
2g.237366877C>TCA431711069COL6A3c.4692G>A (p.Gly1564=)
c.5310G>A (p.Gly1770=)
c.3489G>A (p.Gly1163=)
c.4710G>A (p.Gly1570=)
c.4089G>A (p.Gly1363=)
c.4809G>A (p.Gly1603=)
c.5307G>A (p.Gly1769=)
c.2904G>A (p.Gly968=)
 dbSNP gnomAD v4
2g.237366878C>ACA351187749COL6A3c.4691G>T (p.Gly1564Val)
c.5309G>T (p.Gly1770Val)
c.3488G>T (p.Gly1163Val)
c.4709G>T (p.Gly1570Val)
c.4088G>T (p.Gly1363Val)
c.4808G>T (p.Gly1603Val)
c.5306G>T (p.Gly1769Val)
c.2903G>T (p.Gly968Val)
 dbSNP gnomAD v2 gnomAD v4
2g.237366878C=CA1337620936COL6A3c.4691G= (p.Gly1564=)
c.5309G= (p.Gly1770=)
c.3488G= (p.Gly1163=)
c.4709G= (p.Gly1570=)
c.4088G= (p.Gly1363=)
c.4808G= (p.Gly1603=)
c.5306G= (p.Gly1769=)
c.2903G= (p.Gly968=)
2g.237366878C>GCA351187751COL6A3c.4691G>C (p.Gly1564Ala)
c.5309G>C (p.Gly1770Ala)
c.3488G>C (p.Gly1163Ala)
c.4709G>C (p.Gly1570Ala)
c.4088G>C (p.Gly1363Ala)
c.4808G>C (p.Gly1603Ala)
c.5306G>C (p.Gly1769Ala)
c.2903G>C (p.Gly968Ala)
2g.237366878C>TCA351187750COL6A3c.4691G>A (p.Gly1564Glu)
c.5309G>A (p.Gly1770Glu)
c.3488G>A (p.Gly1163Glu)
c.4709G>A (p.Gly1570Glu)
c.4088G>A (p.Gly1363Glu)
c.4808G>A (p.Gly1603Glu)
c.5306G>A (p.Gly1769Glu)
c.2903G>A (p.Gly968Glu)
2g.237366879C>ACA351187752COL6A3c.4690G>T (p.Gly1564Trp)
c.5308G>T (p.Gly1770Trp)
c.3487G>T (p.Gly1163Trp)
c.4708G>T (p.Gly1570Trp)
c.4087G>T (p.Gly1363Trp)
c.4807G>T (p.Gly1603Trp)
c.5305G>T (p.Gly1769Trp)
c.2902G>T (p.Gly968Trp)
2g.237366879C=CA1337620937COL6A3c.4690G= (p.Gly1564=)
c.5308G= (p.Gly1770=)
c.3487G= (p.Gly1163=)
c.4708G= (p.Gly1570=)
c.4087G= (p.Gly1363=)
c.4807G= (p.Gly1603=)
c.5305G= (p.Gly1769=)
c.2902G= (p.Gly968=)
2g.237366879C>GCA2188701COL6A3c.4690G>C (p.Gly1564Arg)
c.5308G>C (p.Gly1770Arg)
c.3487G>C (p.Gly1163Arg)
c.4708G>C (p.Gly1570Arg)
c.4087G>C (p.Gly1363Arg)
c.4807G>C (p.Gly1603Arg)
c.5305G>C (p.Gly1769Arg)
c.2902G>C (p.Gly968Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366879C>TCA351187753COL6A3c.4690G>A (p.Gly1564Arg)
c.5308G>A (p.Gly1770Arg)
c.3487G>A (p.Gly1163Arg)
c.4708G>A (p.Gly1570Arg)
c.4087G>A (p.Gly1363Arg)
c.4807G>A (p.Gly1603Arg)
c.5305G>A (p.Gly1769Arg)
c.2902G>A (p.Gly968Arg)
 gnomAD v4
2g.237366879_237366891delinsCCCTCTGGGTGAGCA1337620938COL6A3c.4678_4690delinsCTCACCCAGAGGG (p.Leu1560=)
c.5296_5308delinsCTCACCCAGAGGG (p.Leu1766=)
c.3475_3487delinsCTCACCCAGAGGG (p.Leu1159=)
c.4696_4708delinsCTCACCCAGAGGG (p.Leu1566=)
c.4075_4087delinsCTCACCCAGAGGG (p.Leu1359=)
c.4795_4807delinsCTCACCCAGAGGG (p.Leu1599=)
c.5293_5305delinsCTCACCCAGAGGG (p.Leu1765=)
c.2890_2902delinsCTCACCCAGAGGG (p.Leu964=)
2g.237366880C>ACA2188702COL6A3c.4689G>T (p.Arg1563Ser)
c.5307G>T (p.Arg1769Ser)
c.3486G>T (p.Arg1162Ser)
c.4707G>T (p.Arg1569Ser)
c.4086G>T (p.Arg1362Ser)
c.4806G>T (p.Arg1602Ser)
c.5304G>T (p.Arg1768Ser)
c.2901G>T (p.Arg967Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366880C=CA1337620940COL6A3c.4689G= (p.Arg1563=)
c.5307G= (p.Arg1769=)
c.3486G= (p.Arg1162=)
c.4707G= (p.Arg1569=)
c.4086G= (p.Arg1362=)
c.4806G= (p.Arg1602=)
c.5304G= (p.Arg1768=)
c.2901G= (p.Arg967=)
2g.237366880C>GCA351187754COL6A3c.4689G>C (p.Arg1563Ser)
c.5307G>C (p.Arg1769Ser)
c.3486G>C (p.Arg1162Ser)
c.4707G>C (p.Arg1569Ser)
c.4086G>C (p.Arg1362Ser)
c.4806G>C (p.Arg1602Ser)
c.5304G>C (p.Arg1768Ser)
c.2901G>C (p.Arg967Ser)
 dbSNP gnomAD v4
2g.237366880C>TCA431711076COL6A3c.4689G>A (p.Arg1563=)
c.5307G>A (p.Arg1769=)
c.3486G>A (p.Arg1162=)
c.4707G>A (p.Arg1569=)
c.4086G>A (p.Arg1362=)
c.4806G>A (p.Arg1602=)
c.5304G>A (p.Arg1768=)
c.2901G>A (p.Arg967=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237366880_237366891delCA1337620939COL6A3c.4678_4689del (p.Leu1560_Arg1563del)
c.5296_5307del (p.Leu1766_Arg1769del)
c.3475_3486del (p.Leu1159_Arg1162del)
c.4696_4707del (p.Leu1566_Arg1569del)
c.4075_4086del (p.Leu1359_Arg1362del)
c.4795_4806del (p.Leu1599_Arg1602del)
c.5293_5304del (p.Leu1765_Arg1768del)
c.2890_2901del (p.Leu964_Arg967del)
 dbSNP gnomAD v4
2g.237366881C>ACA351187755COL6A3c.4688G>T (p.Arg1563Met)
c.5306G>T (p.Arg1769Met)
c.3485G>T (p.Arg1162Met)
c.4706G>T (p.Arg1569Met)
c.4085G>T (p.Arg1362Met)
c.4805G>T (p.Arg1602Met)
c.5303G>T (p.Arg1768Met)
c.2900G>T (p.Arg967Met)
2g.237366881C=CA1337620941COL6A3c.4688G= (p.Arg1563=)
c.5306G= (p.Arg1769=)
c.3485G= (p.Arg1162=)
c.4706G= (p.Arg1569=)
c.4085G= (p.Arg1362=)
c.4805G= (p.Arg1602=)
c.5303G= (p.Arg1768=)
c.2900G= (p.Arg967=)
2g.237366881C>GCA2188703COL6A3c.4688G>C (p.Arg1563Thr)
c.5306G>C (p.Arg1769Thr)
c.3485G>C (p.Arg1162Thr)
c.4706G>C (p.Arg1569Thr)
c.4085G>C (p.Arg1362Thr)
c.4805G>C (p.Arg1602Thr)
c.5303G>C (p.Arg1768Thr)
c.2900G>C (p.Arg967Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366881C>TCA351187756COL6A3c.4688G>A (p.Arg1563Lys)
c.5306G>A (p.Arg1769Lys)
c.3485G>A (p.Arg1162Lys)
c.4706G>A (p.Arg1569Lys)
c.4085G>A (p.Arg1362Lys)
c.4805G>A (p.Arg1602Lys)
c.5303G>A (p.Arg1768Lys)
c.2900G>A (p.Arg967Lys)
 dbSNP
2g.237366881_237366882delinsCTCA1337620942COL6A3c.4687_4688delinsAG (p.Arg1563=)
c.5305_5306delinsAG (p.Arg1769=)
c.3484_3485delinsAG (p.Arg1162=)
c.4705_4706delinsAG (p.Arg1569=)
c.4084_4085delinsAG (p.Arg1362=)
c.4804_4805delinsAG (p.Arg1602=)
c.5302_5303delinsAG (p.Arg1768=)
c.2899_2900delinsAG (p.Arg967=)
2g.237366882delCA916807418COL6A3c.4687del (p.Arg1563GlyfsTer10)
c.5305del (p.Arg1769GlyfsTer10)
c.3484del (p.Arg1162GlyfsTer10)
c.4705del (p.Arg1569GlyfsTer10)
c.4084del (p.Arg1362GlyfsTer10)
c.4804del (p.Arg1602GlyfsTer10)
c.5302del (p.Arg1768GlyfsTer10)
c.2899del (p.Arg967GlyfsTer10)
 dbSNP
2g.237366882T>ACA351187757COL6A3c.4687A>T (p.Arg1563Trp)
c.5305A>T (p.Arg1769Trp)
c.3484A>T (p.Arg1162Trp)
c.4705A>T (p.Arg1569Trp)
c.4084A>T (p.Arg1362Trp)
c.4804A>T (p.Arg1602Trp)
c.5302A>T (p.Arg1768Trp)
c.2899A>T (p.Arg967Trp)
 ClinVar dbSNP gnomAD v4
2g.237366882T>CCA351187758COL6A3c.4687A>G (p.Arg1563Gly)
c.5305A>G (p.Arg1769Gly)
c.3484A>G (p.Arg1162Gly)
c.4705A>G (p.Arg1569Gly)
c.4084A>G (p.Arg1362Gly)
c.4804A>G (p.Arg1602Gly)
c.5302A>G (p.Arg1768Gly)
c.2899A>G (p.Arg967Gly)
2g.237366882T>GCA431711080COL6A3c.4687A>C (p.Arg1563=)
c.5305A>C (p.Arg1769=)
c.3484A>C (p.Arg1162=)
c.4705A>C (p.Arg1569=)
c.4084A>C (p.Arg1362=)
c.4804A>C (p.Arg1602=)
c.5302A>C (p.Arg1768=)
c.2899A>C (p.Arg967=)
2g.237366883C>ACA351187759COL6A3c.4686G>T (p.Gln1562His)
c.5304G>T (p.Gln1768His)
c.3483G>T (p.Gln1161His)
c.4704G>T (p.Gln1568His)
c.4083G>T (p.Gln1361His)
c.4803G>T (p.Gln1601His)
c.5301G>T (p.Gln1767His)
c.2898G>T (p.Gln966His)
2g.237366883C>GCA351187760COL6A3c.4686G>C (p.Gln1562His)
c.5304G>C (p.Gln1768His)
c.3483G>C (p.Gln1161His)
c.4704G>C (p.Gln1568His)
c.4083G>C (p.Gln1361His)
c.4803G>C (p.Gln1601His)
c.5301G>C (p.Gln1767His)
c.2898G>C (p.Gln966His)
2g.237366883C>TCA431711082COL6A3c.4686G>A (p.Gln1562=)
c.5304G>A (p.Gln1768=)
c.3483G>A (p.Gln1161=)
c.4704G>A (p.Gln1568=)
c.4083G>A (p.Gln1361=)
c.4803G>A (p.Gln1601=)
c.5301G>A (p.Gln1767=)
c.2898G>A (p.Gln966=)
 gnomAD v4
2g.237366884T>ACA351187761COL6A3c.4685A>T (p.Gln1562Leu)
c.5303A>T (p.Gln1768Leu)
c.3482A>T (p.Gln1161Leu)
c.4703A>T (p.Gln1568Leu)
c.4082A>T (p.Gln1361Leu)
c.4802A>T (p.Gln1601Leu)
c.5300A>T (p.Gln1767Leu)
c.2897A>T (p.Gln966Leu)
2g.237366884T>CCA351187762COL6A3c.4685A>G (p.Gln1562Arg)
c.5303A>G (p.Gln1768Arg)
c.3482A>G (p.Gln1161Arg)
c.4703A>G (p.Gln1568Arg)
c.4082A>G (p.Gln1361Arg)
c.4802A>G (p.Gln1601Arg)
c.5300A>G (p.Gln1767Arg)
c.2897A>G (p.Gln966Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.237366884T>GCA351187763COL6A3c.4685A>C (p.Gln1562Pro)
c.5303A>C (p.Gln1768Pro)
c.3482A>C (p.Gln1161Pro)
c.4703A>C (p.Gln1568Pro)
c.4082A>C (p.Gln1361Pro)
c.4802A>C (p.Gln1601Pro)
c.5300A>C (p.Gln1767Pro)
c.2897A>C (p.Gln966Pro)
 gnomAD v4
2g.237366884T=CA1337620943COL6A3c.4685A= (p.Gln1562=)
c.5303A= (p.Gln1768=)
c.3482A= (p.Gln1161=)
c.4703A= (p.Gln1568=)
c.4082A= (p.Gln1361=)
c.4802A= (p.Gln1601=)
c.5300A= (p.Gln1767=)
c.2897A= (p.Gln966=)
2g.237366885G>ACA351187766COL6A3c.4684C>T (p.Gln1562Ter)
c.5302C>T (p.Gln1768Ter)
c.3481C>T (p.Gln1161Ter)
c.4702C>T (p.Gln1568Ter)
c.4081C>T (p.Gln1361Ter)
c.4801C>T (p.Gln1601Ter)
c.5299C>T (p.Gln1767Ter)
c.2896C>T (p.Gln966Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.237366885G>CCA351187764COL6A3c.4684C>G (p.Gln1562Glu)
c.5302C>G (p.Gln1768Glu)
c.3481C>G (p.Gln1161Glu)
c.4702C>G (p.Gln1568Glu)
c.4081C>G (p.Gln1361Glu)
c.4801C>G (p.Gln1601Glu)
c.5299C>G (p.Gln1767Glu)
c.2896C>G (p.Gln966Glu)
2g.237366885G=CA1337620944COL6A3c.4684C= (p.Gln1562=)
c.5302C= (p.Gln1768=)
c.3481C= (p.Gln1161=)
c.4702C= (p.Gln1568=)
c.4081C= (p.Gln1361=)
c.4801C= (p.Gln1601=)
c.5299C= (p.Gln1767=)
c.2896C= (p.Gln966=)
2g.237366885G>TCA351187765COL6A3c.4684C>A (p.Gln1562Lys)
c.5302C>A (p.Gln1768Lys)
c.3481C>A (p.Gln1161Lys)
c.4702C>A (p.Gln1568Lys)
c.4081C>A (p.Gln1361Lys)
c.4801C>A (p.Gln1601Lys)
c.5299C>A (p.Gln1767Lys)
c.2896C>A (p.Gln966Lys)
2g.237366886G>ACA431711089COL6A3c.4683C>T (p.Thr1561=)
c.5301C>T (p.Thr1767=)
c.3480C>T (p.Thr1160=)
c.4701C>T (p.Thr1567=)
c.4080C>T (p.Thr1360=)
c.4800C>T (p.Thr1600=)
c.5298C>T (p.Thr1766=)
c.2895C>T (p.Thr965=)
2g.237366886G>CCA431711090COL6A3c.4683C>G (p.Thr1561=)
c.5301C>G (p.Thr1767=)
c.3480C>G (p.Thr1160=)
c.4701C>G (p.Thr1567=)
c.4080C>G (p.Thr1360=)
c.4800C>G (p.Thr1600=)
c.5298C>G (p.Thr1766=)
c.2895C>G (p.Thr965=)
2g.237366886G>TCA431711091COL6A3c.4683C>A (p.Thr1561=)
c.5301C>A (p.Thr1767=)
c.3480C>A (p.Thr1160=)
c.4701C>A (p.Thr1567=)
c.4080C>A (p.Thr1360=)
c.4800C>A (p.Thr1600=)
c.5298C>A (p.Thr1766=)
c.2895C>A (p.Thr965=)
2g.237366887G>ACA351187767COL6A3c.4682C>T (p.Thr1561Ile)
c.5300C>T (p.Thr1767Ile)
c.3479C>T (p.Thr1160Ile)
c.4700C>T (p.Thr1567Ile)
c.4079C>T (p.Thr1360Ile)
c.4799C>T (p.Thr1600Ile)
c.5297C>T (p.Thr1766Ile)
c.2894C>T (p.Thr965Ile)
 gnomAD v4
2g.237366887G>CCA351187768COL6A3c.4682C>G (p.Thr1561Ser)
c.5300C>G (p.Thr1767Ser)
c.3479C>G (p.Thr1160Ser)
c.4700C>G (p.Thr1567Ser)
c.4079C>G (p.Thr1360Ser)
c.4799C>G (p.Thr1600Ser)
c.5297C>G (p.Thr1766Ser)
c.2894C>G (p.Thr965Ser)
2g.237366887G>TCA351187769COL6A3c.4682C>A (p.Thr1561Asn)
c.5300C>A (p.Thr1767Asn)
c.3479C>A (p.Thr1160Asn)
c.4700C>A (p.Thr1567Asn)
c.4079C>A (p.Thr1360Asn)
c.4799C>A (p.Thr1600Asn)
c.5297C>A (p.Thr1766Asn)
c.2894C>A (p.Thr965Asn)
2g.237366888T>ACA351187770COL6A3c.4681A>T (p.Thr1561Ser)
c.5299A>T (p.Thr1767Ser)
c.3478A>T (p.Thr1160Ser)
c.4699A>T (p.Thr1567Ser)
c.4078A>T (p.Thr1360Ser)
c.4798A>T (p.Thr1600Ser)
c.5296A>T (p.Thr1766Ser)
c.2893A>T (p.Thr965Ser)
2g.237366888T>CCA351187771COL6A3c.4681A>G (p.Thr1561Ala)
c.5299A>G (p.Thr1767Ala)
c.3478A>G (p.Thr1160Ala)
c.4699A>G (p.Thr1567Ala)
c.4078A>G (p.Thr1360Ala)
c.4798A>G (p.Thr1600Ala)
c.5296A>G (p.Thr1766Ala)
c.2893A>G (p.Thr965Ala)
2g.237366888T>GCA351187772COL6A3c.4681A>C (p.Thr1561Pro)
c.5299A>C (p.Thr1767Pro)
c.3478A>C (p.Thr1160Pro)
c.4699A>C (p.Thr1567Pro)
c.4078A>C (p.Thr1360Pro)
c.4798A>C (p.Thr1600Pro)
c.5296A>C (p.Thr1766Pro)
c.2893A>C (p.Thr965Pro)
 gnomAD v4
2g.237366889G>ACA431711096COL6A3c.4680C>T (p.Leu1560=)
c.5298C>T (p.Leu1766=)
c.3477C>T (p.Leu1159=)
c.4698C>T (p.Leu1566=)
c.4077C>T (p.Leu1359=)
c.4797C>T (p.Leu1599=)
c.5295C>T (p.Leu1765=)
c.2892C>T (p.Leu964=)
 dbSNP gnomAD v2 gnomAD v4
2g.237366889G>CCA431711097COL6A3c.4680C>G (p.Leu1560=)
c.5298C>G (p.Leu1766=)
c.3477C>G (p.Leu1159=)
c.4698C>G (p.Leu1566=)
c.4077C>G (p.Leu1359=)
c.4797C>G (p.Leu1599=)
c.5295C>G (p.Leu1765=)
c.2892C>G (p.Leu964=)
2g.237366889G=CA1337620945COL6A3c.4680C= (p.Leu1560=)
c.5298C= (p.Leu1766=)
c.3477C= (p.Leu1159=)
c.4698C= (p.Leu1566=)
c.4077C= (p.Leu1359=)
c.4797C= (p.Leu1599=)
c.5295C= (p.Leu1765=)
c.2892C= (p.Leu964=)
2g.237366889G>TCA2188704COL6A3c.4680C>A (p.Leu1560=)
c.5298C>A (p.Leu1766=)
c.3477C>A (p.Leu1159=)
c.4698C>A (p.Leu1566=)
c.4077C>A (p.Leu1359=)
c.4797C>A (p.Leu1599=)
c.5295C>A (p.Leu1765=)
c.2892C>A (p.Leu964=)
 dbSNP ExAC gnomAD v2
2g.237366890A>CCA351187773COL6A3c.4679T>G (p.Leu1560Arg)
c.5297T>G (p.Leu1766Arg)
c.3476T>G (p.Leu1159Arg)
c.4697T>G (p.Leu1566Arg)
c.4076T>G (p.Leu1359Arg)
c.4796T>G (p.Leu1599Arg)
c.5294T>G (p.Leu1765Arg)
c.2891T>G (p.Leu964Arg)
2g.237366890A>GCA351187774COL6A3c.4679T>C (p.Leu1560Pro)
c.5297T>C (p.Leu1766Pro)
c.3476T>C (p.Leu1159Pro)
c.4697T>C (p.Leu1566Pro)
c.4076T>C (p.Leu1359Pro)
c.4796T>C (p.Leu1599Pro)
c.5294T>C (p.Leu1765Pro)
c.2891T>C (p.Leu964Pro)
2g.237366890A>TCA351187775COL6A3c.4679T>A (p.Leu1560His)
c.5297T>A (p.Leu1766His)
c.3476T>A (p.Leu1159His)
c.4697T>A (p.Leu1566His)
c.4076T>A (p.Leu1359His)
c.4796T>A (p.Leu1599His)
c.5294T>A (p.Leu1765His)
c.2891T>A (p.Leu964His)
2g.237366891G>ACA351187776COL6A3c.4678C>T (p.Leu1560Phe)
c.5296C>T (p.Leu1766Phe)
c.3475C>T (p.Leu1159Phe)
c.4696C>T (p.Leu1566Phe)
c.4075C>T (p.Leu1359Phe)
c.4795C>T (p.Leu1599Phe)
c.5293C>T (p.Leu1765Phe)
c.2890C>T (p.Leu964Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.237366891G>CCA10606139COL6A3c.4678C>G (p.Leu1560Val)
c.5296C>G (p.Leu1766Val)
c.3475C>G (p.Leu1159Val)
c.4696C>G (p.Leu1566Val)
c.4075C>G (p.Leu1359Val)
c.4795C>G (p.Leu1599Val)
c.5293C>G (p.Leu1765Val)
c.2890C>G (p.Leu964Val)
 ClinVar dbSNP gnomAD v4
2g.237366891G=CA1337620946COL6A3c.4678C= (p.Leu1560=)
c.5296C= (p.Leu1766=)
c.3475C= (p.Leu1159=)
c.4696C= (p.Leu1566=)
c.4075C= (p.Leu1359=)
c.4795C= (p.Leu1599=)
c.5293C= (p.Leu1765=)
c.2890C= (p.Leu964=)
2g.237366891G>TCA351187777COL6A3c.4678C>A (p.Leu1560Ile)
c.5296C>A (p.Leu1766Ile)
c.3475C>A (p.Leu1159Ile)
c.4696C>A (p.Leu1566Ile)
c.4075C>A (p.Leu1359Ile)
c.4795C>A (p.Leu1599Ile)
c.5293C>A (p.Leu1765Ile)
c.2890C>A (p.Leu964Ile)
2g.237366892G>ACA431711102COL6A3c.4677C>T (p.Ala1559=)
c.5295C>T (p.Ala1765=)
c.3474C>T (p.Ala1158=)
c.4695C>T (p.Ala1565=)
c.4074C>T (p.Ala1358=)
c.4794C>T (p.Ala1598=)
c.5292C>T (p.Ala1764=)
c.2889C>T (p.Ala963=)
2g.237366892G>CCA431711104COL6A3c.4677C>G (p.Ala1559=)
c.5295C>G (p.Ala1765=)
c.3474C>G (p.Ala1158=)
c.4695C>G (p.Ala1565=)
c.4074C>G (p.Ala1358=)
c.4794C>G (p.Ala1598=)
c.5292C>G (p.Ala1764=)
c.2889C>G (p.Ala963=)
2g.237366892G>TCA431711103COL6A3c.4677C>A (p.Ala1559=)
c.5295C>A (p.Ala1765=)
c.3474C>A (p.Ala1158=)
c.4695C>A (p.Ala1565=)
c.4074C>A (p.Ala1358=)
c.4794C>A (p.Ala1598=)
c.5292C>A (p.Ala1764=)
c.2889C>A (p.Ala963=)
2g.237366893G>ACA351187778COL6A3c.4676C>T (p.Ala1559Val)
c.5294C>T (p.Ala1765Val)
c.3473C>T (p.Ala1158Val)
c.4694C>T (p.Ala1565Val)
c.4073C>T (p.Ala1358Val)
c.4793C>T (p.Ala1598Val)
c.5291C>T (p.Ala1764Val)
c.2888C>T (p.Ala963Val)
 gnomAD v4
2g.237366893G>CCA351187780COL6A3c.4676C>G (p.Ala1559Gly)
c.5294C>G (p.Ala1765Gly)
c.3473C>G (p.Ala1158Gly)
c.4694C>G (p.Ala1565Gly)
c.4073C>G (p.Ala1358Gly)
c.4793C>G (p.Ala1598Gly)
c.5291C>G (p.Ala1764Gly)
c.2888C>G (p.Ala963Gly)
2g.237366893G>TCA351187779COL6A3c.4676C>A (p.Ala1559Asp)
c.5294C>A (p.Ala1765Asp)
c.3473C>A (p.Ala1158Asp)
c.4694C>A (p.Ala1565Asp)
c.4073C>A (p.Ala1358Asp)
c.4793C>A (p.Ala1598Asp)
c.5291C>A (p.Ala1764Asp)
c.2888C>A (p.Ala963Asp)
2g.237366894C>ACA351187781COL6A3c.4675G>T (p.Ala1559Ser)
c.5293G>T (p.Ala1765Ser)
c.3472G>T (p.Ala1158Ser)
c.4693G>T (p.Ala1565Ser)
c.4072G>T (p.Ala1358Ser)
c.4792G>T (p.Ala1598Ser)
c.5290G>T (p.Ala1764Ser)
c.2887G>T (p.Ala963Ser)
2g.237366894C>GCA351187782COL6A3c.4675G>C (p.Ala1559Pro)
c.5293G>C (p.Ala1765Pro)
c.3472G>C (p.Ala1158Pro)
c.4693G>C (p.Ala1565Pro)
c.4072G>C (p.Ala1358Pro)
c.4792G>C (p.Ala1598Pro)
c.5290G>C (p.Ala1764Pro)
c.2887G>C (p.Ala963Pro)
2g.237366894C>TCA351187783COL6A3c.4675G>A (p.Ala1559Thr)
c.5293G>A (p.Ala1765Thr)
c.3472G>A (p.Ala1158Thr)
c.4693G>A (p.Ala1565Thr)
c.4072G>A (p.Ala1358Thr)
c.4792G>A (p.Ala1598Thr)
c.5290G>A (p.Ala1764Thr)
c.2887G>A (p.Ala963Thr)
2g.237366895C>ACA431711110COL6A3c.4674G>T (p.Leu1558=)
c.5292G>T (p.Leu1764=)
c.3471G>T (p.Leu1157=)
c.4692G>T (p.Leu1564=)
c.4071G>T (p.Leu1357=)
c.4791G>T (p.Leu1597=)
c.5289G>T (p.Leu1763=)
c.2886G>T (p.Leu962=)
2g.237366895C=CA1337620947COL6A3c.4674G= (p.Leu1558=)
c.5292G= (p.Leu1764=)
c.3471G= (p.Leu1157=)
c.4692G= (p.Leu1564=)
c.4071G= (p.Leu1357=)
c.4791G= (p.Leu1597=)
c.5289G= (p.Leu1763=)
c.2886G= (p.Leu962=)
2g.237366895C>GCA431711109COL6A3c.4674G>C (p.Leu1558=)
c.5292G>C (p.Leu1764=)
c.3471G>C (p.Leu1157=)
c.4692G>C (p.Leu1564=)
c.4071G>C (p.Leu1357=)
c.4791G>C (p.Leu1597=)
c.5289G>C (p.Leu1763=)
c.2886G>C (p.Leu962=)
2g.237366895C>TCA2188705COL6A3c.4674G>A (p.Leu1558=)
c.5292G>A (p.Leu1764=)
c.3471G>A (p.Leu1157=)
c.4692G>A (p.Leu1564=)
c.4071G>A (p.Leu1357=)
c.4791G>A (p.Leu1597=)
c.5289G>A (p.Leu1763=)
c.2886G>A (p.Leu962=)
 dbSNP ExAC
2g.237366896A=CA1337620948COL6A3c.4673T= (p.Leu1558=)
c.5291T= (p.Leu1764=)
c.3470T= (p.Leu1157=)
c.4691T= (p.Leu1564=)
c.4070T= (p.Leu1357=)
c.4790T= (p.Leu1597=)
c.5288T= (p.Leu1763=)
c.2885T= (p.Leu962=)
2g.237366896A>CCA351187784COL6A3c.4673T>G (p.Leu1558Arg)
c.5291T>G (p.Leu1764Arg)
c.3470T>G (p.Leu1157Arg)
c.4691T>G (p.Leu1564Arg)
c.4070T>G (p.Leu1357Arg)
c.4790T>G (p.Leu1597Arg)
c.5288T>G (p.Leu1763Arg)
c.2885T>G (p.Leu962Arg)
2g.237366896A>GCA351187785COL6A3c.4673T>C (p.Leu1558Pro)
c.5291T>C (p.Leu1764Pro)
c.3470T>C (p.Leu1157Pro)
c.4691T>C (p.Leu1564Pro)
c.4070T>C (p.Leu1357Pro)
c.4790T>C (p.Leu1597Pro)
c.5288T>C (p.Leu1763Pro)
c.2885T>C (p.Leu962Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.237366896A>TCA351187786COL6A3c.4673T>A (p.Leu1558Gln)
c.5291T>A (p.Leu1764Gln)
c.3470T>A (p.Leu1157Gln)
c.4691T>A (p.Leu1564Gln)
c.4070T>A (p.Leu1357Gln)
c.4790T>A (p.Leu1597Gln)
c.5288T>A (p.Leu1763Gln)
c.2885T>A (p.Leu962Gln)
2g.237366897G>ACA431711112COL6A3c.4672C>T (p.Leu1558=)
c.5290C>T (p.Leu1764=)
c.3469C>T (p.Leu1157=)
c.4690C>T (p.Leu1564=)
c.4069C>T (p.Leu1357=)
c.4789C>T (p.Leu1597=)
c.5287C>T (p.Leu1763=)
c.2884C>T (p.Leu962=)
 dbSNP gnomAD v2 gnomAD v4
2g.237366897G>CCA351187787COL6A3c.4672C>G (p.Leu1558Val)
c.5290C>G (p.Leu1764Val)
c.3469C>G (p.Leu1157Val)
c.4690C>G (p.Leu1564Val)
c.4069C>G (p.Leu1357Val)
c.4789C>G (p.Leu1597Val)
c.5287C>G (p.Leu1763Val)
c.2884C>G (p.Leu962Val)
2g.237366897G=CA1337620949COL6A3c.4672C= (p.Leu1558=)
c.5290C= (p.Leu1764=)
c.3469C= (p.Leu1157=)
c.4690C= (p.Leu1564=)
c.4069C= (p.Leu1357=)
c.4789C= (p.Leu1597=)
c.5287C= (p.Leu1763=)
c.2884C= (p.Leu962=)
2g.237366897G>TCA351187788COL6A3c.4672C>A (p.Leu1558Met)
c.5290C>A (p.Leu1764Met)
c.3469C>A (p.Leu1157Met)
c.4690C>A (p.Leu1564Met)
c.4069C>A (p.Leu1357Met)
c.4789C>A (p.Leu1597Met)
c.5287C>A (p.Leu1763Met)
c.2884C>A (p.Leu962Met)
2g.237366898G>ACA431711116COL6A3c.4671C>T (p.Ser1557=)
c.5289C>T (p.Ser1763=)
c.3468C>T (p.Ser1156=)
c.4689C>T (p.Ser1563=)
c.4068C>T (p.Ser1356=)
c.4788C>T (p.Ser1596=)
c.5286C>T (p.Ser1762=)
c.2883C>T (p.Ser961=)
2g.237366898G>CCA351187789COL6A3c.4671C>G (p.Ser1557Arg)
c.5289C>G (p.Ser1763Arg)
c.3468C>G (p.Ser1156Arg)
c.4689C>G (p.Ser1563Arg)
c.4068C>G (p.Ser1356Arg)
c.4788C>G (p.Ser1596Arg)
c.5286C>G (p.Ser1762Arg)
c.2883C>G (p.Ser961Arg)
2g.237366898G>TCA351187790COL6A3c.4671C>A (p.Ser1557Arg)
c.5289C>A (p.Ser1763Arg)
c.3468C>A (p.Ser1156Arg)
c.4689C>A (p.Ser1563Arg)
c.4068C>A (p.Ser1356Arg)
c.4788C>A (p.Ser1596Arg)
c.5286C>A (p.Ser1762Arg)
c.2883C>A (p.Ser961Arg)
 dbSNP
2g.237366899C>ACA351187791COL6A3c.4670G>T (p.Ser1557Ile)
c.5288G>T (p.Ser1763Ile)
c.3467G>T (p.Ser1156Ile)
c.4688G>T (p.Ser1563Ile)
c.4067G>T (p.Ser1356Ile)
c.4787G>T (p.Ser1596Ile)
c.5285G>T (p.Ser1762Ile)
c.2882G>T (p.Ser961Ile)
 dbSNP
2g.237366899C=CA1337620950COL6A3c.4670G= (p.Ser1557=)
c.5288G= (p.Ser1763=)
c.3467G= (p.Ser1156=)
c.4688G= (p.Ser1563=)
c.4067G= (p.Ser1356=)
c.4787G= (p.Ser1596=)
c.5285G= (p.Ser1762=)
c.2882G= (p.Ser961=)
2g.237366899C>GCA351187792COL6A3c.4670G>C (p.Ser1557Thr)
c.5288G>C (p.Ser1763Thr)
c.3467G>C (p.Ser1156Thr)
c.4688G>C (p.Ser1563Thr)
c.4067G>C (p.Ser1356Thr)
c.4787G>C (p.Ser1596Thr)
c.5285G>C (p.Ser1762Thr)
c.2882G>C (p.Ser961Thr)
2g.237366899C>TCA351187793COL6A3c.4670G>A (p.Ser1557Asn)
c.5288G>A (p.Ser1763Asn)
c.3467G>A (p.Ser1156Asn)
c.4688G>A (p.Ser1563Asn)
c.4067G>A (p.Ser1356Asn)
c.4787G>A (p.Ser1596Asn)
c.5285G>A (p.Ser1762Asn)
c.2882G>A (p.Ser961Asn)
2g.237366900T>ACA351187794COL6A3c.4669A>T (p.Ser1557Cys)
c.5287A>T (p.Ser1763Cys)
c.3466A>T (p.Ser1156Cys)
c.4687A>T (p.Ser1563Cys)
c.4066A>T (p.Ser1356Cys)
c.4786A>T (p.Ser1596Cys)
c.5284A>T (p.Ser1762Cys)
c.2881A>T (p.Ser961Cys)
2g.237366900T>CCA351187796COL6A3c.4669A>G (p.Ser1557Gly)
c.5287A>G (p.Ser1763Gly)
c.3466A>G (p.Ser1156Gly)
c.4687A>G (p.Ser1563Gly)
c.4066A>G (p.Ser1356Gly)
c.4786A>G (p.Ser1596Gly)
c.5284A>G (p.Ser1762Gly)
c.2881A>G (p.Ser961Gly)
 gnomAD v4
2g.237366900T>GCA351187795COL6A3c.4669A>C (p.Ser1557Arg)
c.5287A>C (p.Ser1763Arg)
c.3466A>C (p.Ser1156Arg)
c.4687A>C (p.Ser1563Arg)
c.4066A>C (p.Ser1356Arg)
c.4786A>C (p.Ser1596Arg)
c.5284A>C (p.Ser1762Arg)
c.2881A>C (p.Ser961Arg)
2g.237366901C>ACA431711119COL6A3c.4668G>T (p.Val1556=)
c.5286G>T (p.Val1762=)
c.3465G>T (p.Val1155=)
c.4686G>T (p.Val1562=)
c.4065G>T (p.Val1355=)
c.4785G>T (p.Val1595=)
c.5283G>T (p.Val1761=)
c.2880G>T (p.Val960=)
2g.237366901C>GCA431711120COL6A3c.4668G>C (p.Val1556=)
c.5286G>C (p.Val1762=)
c.3465G>C (p.Val1155=)
c.4686G>C (p.Val1562=)
c.4065G>C (p.Val1355=)
c.4785G>C (p.Val1595=)
c.5283G>C (p.Val1761=)
c.2880G>C (p.Val960=)
2g.237366901C>TCA431711121COL6A3c.4668G>A (p.Val1556=)
c.5286G>A (p.Val1762=)
c.3465G>A (p.Val1155=)
c.4686G>A (p.Val1562=)
c.4065G>A (p.Val1355=)
c.4785G>A (p.Val1595=)
c.5283G>A (p.Val1761=)
c.2880G>A (p.Val960=)
 dbSNP gnomAD v4
2g.237366902A=CA1337620951COL6A3c.4667T= (p.Val1556=)
c.5285T= (p.Val1762=)
c.3464T= (p.Val1155=)
c.4685T= (p.Val1562=)
c.4064T= (p.Val1355=)
c.4784T= (p.Val1595=)
c.5282T= (p.Val1761=)
c.2879T= (p.Val960=)
2g.237366902A>CCA351187797COL6A3c.4667T>G (p.Val1556Gly)
c.5285T>G (p.Val1762Gly)
c.3464T>G (p.Val1155Gly)
c.4685T>G (p.Val1562Gly)
c.4064T>G (p.Val1355Gly)
c.4784T>G (p.Val1595Gly)
c.5282T>G (p.Val1761Gly)
c.2879T>G (p.Val960Gly)
 gnomAD v4
2g.237366902A>GCA351187798COL6A3c.4667T>C (p.Val1556Ala)
c.5285T>C (p.Val1762Ala)
c.3464T>C (p.Val1155Ala)
c.4685T>C (p.Val1562Ala)
c.4064T>C (p.Val1355Ala)
c.4784T>C (p.Val1595Ala)
c.5282T>C (p.Val1761Ala)
c.2879T>C (p.Val960Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.237366902A>TCA351187799COL6A3c.4667T>A (p.Val1556Glu)
c.5285T>A (p.Val1762Glu)
c.3464T>A (p.Val1155Glu)
c.4685T>A (p.Val1562Glu)
c.4064T>A (p.Val1355Glu)
c.4784T>A (p.Val1595Glu)
c.5282T>A (p.Val1761Glu)
c.2879T>A (p.Val960Glu)
2g.237366903C>ACA351187800COL6A3c.4666G>T (p.Val1556Leu)
c.5284G>T (p.Val1762Leu)
c.3463G>T (p.Val1155Leu)
c.4684G>T (p.Val1562Leu)
c.4063G>T (p.Val1355Leu)
c.4783G>T (p.Val1595Leu)
c.5281G>T (p.Val1761Leu)
c.2878G>T (p.Val960Leu)
2g.237366903C>GCA351187801COL6A3c.4666G>C (p.Val1556Leu)
c.5284G>C (p.Val1762Leu)
c.3463G>C (p.Val1155Leu)
c.4684G>C (p.Val1562Leu)
c.4063G>C (p.Val1355Leu)
c.4783G>C (p.Val1595Leu)
c.5281G>C (p.Val1761Leu)
c.2878G>C (p.Val960Leu)
2g.237366903C>TCA351187802COL6A3c.4666G>A (p.Val1556Met)
c.5284G>A (p.Val1762Met)
c.3463G>A (p.Val1155Met)
c.4684G>A (p.Val1562Met)
c.4063G>A (p.Val1355Met)
c.4783G>A (p.Val1595Met)
c.5281G>A (p.Val1761Met)
c.2878G>A (p.Val960Met)
2g.237366904A=CA1337620952COL6A3c.4665T= (p.Asp1555=)
c.5283T= (p.Asp1761=)
c.3462T= (p.Asp1154=)
c.4683T= (p.Asp1561=)
c.4062T= (p.Asp1354=)
c.4782T= (p.Asp1594=)
c.5280T= (p.Asp1760=)
c.2877T= (p.Asp959=)
2g.237366904A>CCA351187803COL6A3c.4665T>G (p.Asp1555Glu)
c.5283T>G (p.Asp1761Glu)
c.3462T>G (p.Asp1154Glu)
c.4683T>G (p.Asp1561Glu)
c.4062T>G (p.Asp1354Glu)
c.4782T>G (p.Asp1594Glu)
c.5280T>G (p.Asp1760Glu)
c.2877T>G (p.Asp959Glu)
2g.237366904A>GCA431711130COL6A3c.4665T>C (p.Asp1555=)
c.5283T>C (p.Asp1761=)
c.3462T>C (p.Asp1154=)
c.4683T>C (p.Asp1561=)
c.4062T>C (p.Asp1354=)
c.4782T>C (p.Asp1594=)
c.5280T>C (p.Asp1760=)
c.2877T>C (p.Asp959=)
 dbSNP gnomAD v2 gnomAD v4
2g.237366904A>TCA351187804COL6A3c.4665T>A (p.Asp1555Glu)
c.5283T>A (p.Asp1761Glu)
c.3462T>A (p.Asp1154Glu)
c.4683T>A (p.Asp1561Glu)
c.4062T>A (p.Asp1354Glu)
c.4782T>A (p.Asp1594Glu)
c.5280T>A (p.Asp1760Glu)
c.2877T>A (p.Asp959Glu)
2g.237366905T>ACA351187805COL6A3c.4664A>T (p.Asp1555Val)
c.5282A>T (p.Asp1761Val)
c.3461A>T (p.Asp1154Val)
c.4682A>T (p.Asp1561Val)
c.4061A>T (p.Asp1354Val)
c.4781A>T (p.Asp1594Val)
c.5279A>T (p.Asp1760Val)
c.2876A>T (p.Asp959Val)
2g.237366905T>CCA351187806COL6A3c.4664A>G (p.Asp1555Gly)
c.5282A>G (p.Asp1761Gly)
c.3461A>G (p.Asp1154Gly)
c.4682A>G (p.Asp1561Gly)
c.4061A>G (p.Asp1354Gly)
c.4781A>G (p.Asp1594Gly)
c.5279A>G (p.Asp1760Gly)
c.2876A>G (p.Asp959Gly)
 gnomAD v4
2g.237366905T>GCA351187807COL6A3c.4664A>C (p.Asp1555Ala)
c.5282A>C (p.Asp1761Ala)
c.3461A>C (p.Asp1154Ala)
c.4682A>C (p.Asp1561Ala)
c.4061A>C (p.Asp1354Ala)
c.4781A>C (p.Asp1594Ala)
c.5279A>C (p.Asp1760Ala)
c.2876A>C (p.Asp959Ala)
2g.237366906C>ACA351187808COL6A3c.4663G>T (p.Asp1555Tyr)
c.5281G>T (p.Asp1761Tyr)
c.3460G>T (p.Asp1154Tyr)
c.4681G>T (p.Asp1561Tyr)
c.4060G>T (p.Asp1354Tyr)
c.4780G>T (p.Asp1594Tyr)
c.5278G>T (p.Asp1760Tyr)
c.2875G>T (p.Asp959Tyr)
2g.237366906C=CA1337620953COL6A3c.4663G= (p.Asp1555=)
c.5281G= (p.Asp1761=)
c.3460G= (p.Asp1154=)
c.4681G= (p.Asp1561=)
c.4060G= (p.Asp1354=)
c.4780G= (p.Asp1594=)
c.5278G= (p.Asp1760=)
c.2875G= (p.Asp959=)
2g.237366906C>GCA351187809COL6A3c.4663G>C (p.Asp1555His)
c.5281G>C (p.Asp1761His)
c.3460G>C (p.Asp1154His)
c.4681G>C (p.Asp1561His)
c.4060G>C (p.Asp1354His)
c.4780G>C (p.Asp1594His)
c.5278G>C (p.Asp1760His)
c.2875G>C (p.Asp959His)
2g.237366906C>TCA67814393COL6A3c.4663G>A (p.Asp1555Asn)
c.5281G>A (p.Asp1761Asn)
c.3460G>A (p.Asp1154Asn)
c.4681G>A (p.Asp1561Asn)
c.4060G>A (p.Asp1354Asn)
c.4780G>A (p.Asp1594Asn)
c.5278G>A (p.Asp1760Asn)
c.2875G>A (p.Asp959Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237366907delCA2695197704COL6A3c.4663del (p.Asp1555MetfsTer2)
c.5281del (p.Asp1761MetfsTer2)
c.3460del (p.Asp1154MetfsTer2)
c.4681del (p.Asp1561MetfsTer2)
c.4060del (p.Asp1354MetfsTer2)
c.4780del (p.Asp1594MetfsTer2)
c.5278del (p.Asp1760MetfsTer2)
c.2875del (p.Asp959MetfsTer2)
 ClinVar
2g.237366907C>ACA351187810COL6A3c.4662G>T (p.Gln1554His)
c.5280G>T (p.Gln1760His)
c.3459G>T (p.Gln1153His)
c.4680G>T (p.Gln1560His)
c.4059G>T (p.Gln1353His)
c.4779G>T (p.Gln1593His)
c.5277G>T (p.Gln1759His)
c.2874G>T (p.Gln958His)
2g.237366907C>GCA351187811COL6A3c.4662G>C (p.Gln1554His)
c.5280G>C (p.Gln1760His)
c.3459G>C (p.Gln1153His)
c.4680G>C (p.Gln1560His)
c.4059G>C (p.Gln1353His)
c.4779G>C (p.Gln1593His)
c.5277G>C (p.Gln1759His)
c.2874G>C (p.Gln958His)
2g.237366907C>TCA431711142COL6A3c.4662G>A (p.Gln1554=)
c.5280G>A (p.Gln1760=)
c.3459G>A (p.Gln1153=)
c.4680G>A (p.Gln1560=)
c.4059G>A (p.Gln1353=)
c.4779G>A (p.Gln1593=)
c.5277G>A (p.Gln1759=)
c.2874G>A (p.Gln958=)
2g.237366908T>ACA351187812COL6A3c.4661A>T (p.Gln1554Leu)
c.5279A>T (p.Gln1760Leu)
c.3458A>T (p.Gln1153Leu)
c.4679A>T (p.Gln1560Leu)
c.4058A>T (p.Gln1353Leu)
c.4778A>T (p.Gln1593Leu)
c.5276A>T (p.Gln1759Leu)
c.2873A>T (p.Gln958Leu)
2g.237366908T>CCA351187813COL6A3c.4661A>G (p.Gln1554Arg)
c.5279A>G (p.Gln1760Arg)
c.3458A>G (p.Gln1153Arg)
c.4679A>G (p.Gln1560Arg)
c.4058A>G (p.Gln1353Arg)
c.4778A>G (p.Gln1593Arg)
c.5276A>G (p.Gln1759Arg)
c.2873A>G (p.Gln958Arg)
 gnomAD v4
2g.237366908T>GCA351187814COL6A3c.4661A>C (p.Gln1554Pro)
c.5279A>C (p.Gln1760Pro)
c.3458A>C (p.Gln1153Pro)
c.4679A>C (p.Gln1560Pro)
c.4058A>C (p.Gln1353Pro)
c.4778A>C (p.Gln1593Pro)
c.5276A>C (p.Gln1759Pro)
c.2873A>C (p.Gln958Pro)
2g.237366909G>ACA351187815COL6A3c.4660C>T (p.Gln1554Ter)
c.5278C>T (p.Gln1760Ter)
c.3457C>T (p.Gln1153Ter)
c.4678C>T (p.Gln1560Ter)
c.4057C>T (p.Gln1353Ter)
c.4777C>T (p.Gln1593Ter)
c.5275C>T (p.Gln1759Ter)
c.2872C>T (p.Gln958Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237366909G>CCA351187816COL6A3c.4660C>G (p.Gln1554Glu)
c.5278C>G (p.Gln1760Glu)
c.3457C>G (p.Gln1153Glu)
c.4678C>G (p.Gln1560Glu)
c.4057C>G (p.Gln1353Glu)
c.4777C>G (p.Gln1593Glu)
c.5275C>G (p.Gln1759Glu)
c.2872C>G (p.Gln958Glu)
2g.237366909G=CA1337620954COL6A3c.4660C= (p.Gln1554=)
c.5278C= (p.Gln1760=)
c.3457C= (p.Gln1153=)
c.4678C= (p.Gln1560=)
c.4057C= (p.Gln1353=)
c.4777C= (p.Gln1593=)
c.5275C= (p.Gln1759=)
c.2872C= (p.Gln958=)
2g.237366909G>TCA351187817COL6A3c.4660C>A (p.Gln1554Lys)
c.5278C>A (p.Gln1760Lys)
c.3457C>A (p.Gln1153Lys)
c.4678C>A (p.Gln1560Lys)
c.4057C>A (p.Gln1353Lys)
c.4777C>A (p.Gln1593Lys)
c.5275C>A (p.Gln1759Lys)
c.2872C>A (p.Gln958Lys)
2g.237366910T>ACA431711147COL6A3c.4659A>T (p.Ala1553=)
c.5277A>T (p.Ala1759=)
c.3456A>T (p.Ala1152=)
c.4677A>T (p.Ala1559=)
c.4056A>T (p.Ala1352=)
c.4776A>T (p.Ala1592=)
c.5274A>T (p.Ala1758=)
c.2871A>T (p.Ala957=)
2g.237366910T>CCA2188706COL6A3c.4659A>G (p.Ala1553=)
c.5277A>G (p.Ala1759=)
c.3456A>G (p.Ala1152=)
c.4677A>G (p.Ala1559=)
c.4056A>G (p.Ala1352=)
c.4776A>G (p.Ala1592=)
c.5274A>G (p.Ala1758=)
c.2871A>G (p.Ala957=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366910T>GCA431711148COL6A3c.4659A>C (p.Ala1553=)
c.5277A>C (p.Ala1759=)
c.3456A>C (p.Ala1152=)
c.4677A>C (p.Ala1559=)
c.4056A>C (p.Ala1352=)
c.4776A>C (p.Ala1592=)
c.5274A>C (p.Ala1758=)
c.2871A>C (p.Ala957=)
2g.237366910T=CA1337620955COL6A3c.4659A= (p.Ala1553=)
c.5277A= (p.Ala1759=)
c.3456A= (p.Ala1152=)
c.4677A= (p.Ala1559=)
c.4056A= (p.Ala1352=)
c.4776A= (p.Ala1592=)
c.5274A= (p.Ala1758=)
c.2871A= (p.Ala957=)
2g.237366911G>ACA351187818COL6A3c.4658C>T (p.Ala1553Val)
c.5276C>T (p.Ala1759Val)
c.3455C>T (p.Ala1152Val)
c.4676C>T (p.Ala1559Val)
c.4055C>T (p.Ala1352Val)
c.4775C>T (p.Ala1592Val)
c.5273C>T (p.Ala1758Val)
c.2870C>T (p.Ala957Val)
 dbSNP gnomAD v3 gnomAD v4
2g.237366911G>CCA2188707COL6A3c.4658C>G (p.Ala1553Gly)
c.5276C>G (p.Ala1759Gly)
c.3455C>G (p.Ala1152Gly)
c.4676C>G (p.Ala1559Gly)
c.4055C>G (p.Ala1352Gly)
c.4775C>G (p.Ala1592Gly)
c.5273C>G (p.Ala1758Gly)
c.2870C>G (p.Ala957Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366911G=CA1337620956COL6A3c.4658C= (p.Ala1553=)
c.5276C= (p.Ala1759=)
c.3455C= (p.Ala1152=)
c.4676C= (p.Ala1559=)
c.4055C= (p.Ala1352=)
c.4775C= (p.Ala1592=)
c.5273C= (p.Ala1758=)
c.2870C= (p.Ala957=)
2g.237366911G>TCA2188708COL6A3c.4658C>A (p.Ala1553Glu)
c.5276C>A (p.Ala1759Glu)
c.3455C>A (p.Ala1152Glu)
c.4676C>A (p.Ala1559Glu)
c.4055C>A (p.Ala1352Glu)
c.4775C>A (p.Ala1592Glu)
c.5273C>A (p.Ala1758Glu)
c.2870C>A (p.Ala957Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366912C>ACA351187819COL6A3c.4657G>T (p.Ala1553Ser)
c.5275G>T (p.Ala1759Ser)
c.3454G>T (p.Ala1152Ser)
c.4675G>T (p.Ala1559Ser)
c.4054G>T (p.Ala1352Ser)
c.4774G>T (p.Ala1592Ser)
c.5272G>T (p.Ala1758Ser)
c.2869G>T (p.Ala957Ser)
2g.237366912C=CA1337620957COL6A3c.4657G= (p.Ala1553=)
c.5275G= (p.Ala1759=)
c.3454G= (p.Ala1152=)
c.4675G= (p.Ala1559=)
c.4054G= (p.Ala1352=)
c.4774G= (p.Ala1592=)
c.5272G= (p.Ala1758=)
c.2869G= (p.Ala957=)
2g.237366912C>GCA351187820COL6A3c.4657G>C (p.Ala1553Pro)
c.5275G>C (p.Ala1759Pro)
c.3454G>C (p.Ala1152Pro)
c.4675G>C (p.Ala1559Pro)
c.4054G>C (p.Ala1352Pro)
c.4774G>C (p.Ala1592Pro)
c.5272G>C (p.Ala1758Pro)
c.2869G>C (p.Ala957Pro)
2g.237366912C>TCA351187821COL6A3c.4657G>A (p.Ala1553Thr)
c.5275G>A (p.Ala1759Thr)
c.3454G>A (p.Ala1152Thr)
c.4675G>A (p.Ala1559Thr)
c.4054G>A (p.Ala1352Thr)
c.4774G>A (p.Ala1592Thr)
c.5272G>A (p.Ala1758Thr)
c.2869G>A (p.Ala957Thr)
 dbSNP gnomAD v4
2g.237366913A=CA1337620958COL6A3c.4656T= (p.Asp1552=)
c.5274T= (p.Asp1758=)
c.3453T= (p.Asp1151=)
c.4674T= (p.Asp1558=)
c.4053T= (p.Asp1351=)
c.4773T= (p.Asp1591=)
c.5271T= (p.Asp1757=)
c.2868T= (p.Asp956=)
2g.237366913A>CCA67814403COL6A3c.4656T>G (p.Asp1552Glu)
c.5274T>G (p.Asp1758Glu)
c.3453T>G (p.Asp1151Glu)
c.4674T>G (p.Asp1558Glu)
c.4053T>G (p.Asp1351Glu)
c.4773T>G (p.Asp1591Glu)
c.5271T>G (p.Asp1757Glu)
c.2868T>G (p.Asp956Glu)
 dbSNP gnomAD v4
2g.237366913A>GCA431711155COL6A3c.4656T>C (p.Asp1552=)
c.5274T>C (p.Asp1758=)
c.3453T>C (p.Asp1151=)
c.4674T>C (p.Asp1558=)
c.4053T>C (p.Asp1351=)
c.4773T>C (p.Asp1591=)
c.5271T>C (p.Asp1757=)
c.2868T>C (p.Asp956=)
 dbSNP gnomAD v3 gnomAD v4
2g.237366913A>TCA351187822COL6A3c.4656T>A (p.Asp1552Glu)
c.5274T>A (p.Asp1758Glu)
c.3453T>A (p.Asp1151Glu)
c.4674T>A (p.Asp1558Glu)
c.4053T>A (p.Asp1351Glu)
c.4773T>A (p.Asp1591Glu)
c.5271T>A (p.Asp1757Glu)
c.2868T>A (p.Asp956Glu)
 gnomAD v4
2g.237366914T>ACA351187823COL6A3c.4655A>T (p.Asp1552Val)
c.5273A>T (p.Asp1758Val)
c.3452A>T (p.Asp1151Val)
c.4673A>T (p.Asp1558Val)
c.4052A>T (p.Asp1351Val)
c.4772A>T (p.Asp1591Val)
c.5270A>T (p.Asp1757Val)
c.2867A>T (p.Asp956Val)
2g.237366914T>CCA351187824COL6A3c.4655A>G (p.Asp1552Gly)
c.5273A>G (p.Asp1758Gly)
c.3452A>G (p.Asp1151Gly)
c.4673A>G (p.Asp1558Gly)
c.4052A>G (p.Asp1351Gly)
c.4772A>G (p.Asp1591Gly)
c.5270A>G (p.Asp1757Gly)
c.2867A>G (p.Asp956Gly)
2g.237366914T>GCA351187825COL6A3c.4655A>C (p.Asp1552Ala)
c.5273A>C (p.Asp1758Ala)
c.3452A>C (p.Asp1151Ala)
c.4673A>C (p.Asp1558Ala)
c.4052A>C (p.Asp1351Ala)
c.4772A>C (p.Asp1591Ala)
c.5270A>C (p.Asp1757Ala)
c.2867A>C (p.Asp956Ala)
2g.237366915C>ACA351187826COL6A3c.4654G>T (p.Asp1552Tyr)
c.5272G>T (p.Asp1758Tyr)
c.3451G>T (p.Asp1151Tyr)
c.4672G>T (p.Asp1558Tyr)
c.4051G>T (p.Asp1351Tyr)
c.4771G>T (p.Asp1591Tyr)
c.5269G>T (p.Asp1757Tyr)
c.2866G>T (p.Asp956Tyr)
2g.237366915C=CA1337620959COL6A3c.4654G= (p.Asp1552=)
c.5272G= (p.Asp1758=)
c.3451G= (p.Asp1151=)
c.4672G= (p.Asp1558=)
c.4051G= (p.Asp1351=)
c.4771G= (p.Asp1591=)
c.5269G= (p.Asp1757=)
c.2866G= (p.Asp956=)
2g.237366915C>GCA351187827COL6A3c.4654G>C (p.Asp1552His)
c.5272G>C (p.Asp1758His)
c.3451G>C (p.Asp1151His)
c.4672G>C (p.Asp1558His)
c.4051G>C (p.Asp1351His)
c.4771G>C (p.Asp1591His)
c.5269G>C (p.Asp1757His)
c.2866G>C (p.Asp956His)
2g.237366915C>TCA2188709COL6A3c.4654G>A (p.Asp1552Asn)
c.5272G>A (p.Asp1758Asn)
c.3451G>A (p.Asp1151Asn)
c.4672G>A (p.Asp1558Asn)
c.4051G>A (p.Asp1351Asn)
c.4771G>A (p.Asp1591Asn)
c.5269G>A (p.Asp1757Asn)
c.2866G>A (p.Asp956Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched