Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237325657T>ACA431674619COL6A3c.1777A>T
c.8778A>T (p.Pro2926=)
c.1523A>T
c.262A>T (n.262A>T)
c.9396A>T (p.Pro3132=)
c.7572A>T (p.Pro2524=)
c.7575A>T (p.Pro2525=)
n.4524A>T
n.5838A>T
c.8796A>T (p.Pro2932=)
c.8175A>T (p.Pro2725=)
c.8895A>T (p.Pro2965=)
c.9393A>T (p.Pro3131=)
c.6990A>T (p.Pro2330=)
2g.237325657T>CCA431674620COL6A3c.1777A>G
c.8778A>G (p.Pro2926=)
c.1523A>G
c.262A>G (n.262A>G)
c.9396A>G (p.Pro3132=)
c.7572A>G (p.Pro2524=)
c.7575A>G (p.Pro2525=)
n.4524A>G
n.5838A>G
c.8796A>G (p.Pro2932=)
c.8175A>G (p.Pro2725=)
c.8895A>G (p.Pro2965=)
c.9393A>G (p.Pro3131=)
c.6990A>G (p.Pro2330=)
 gnomAD v4
2g.237325657T>GCA431674621COL6A3c.1777A>C
c.8778A>C (p.Pro2926=)
c.1523A>C
c.262A>C (n.262A>C)
c.9396A>C (p.Pro3132=)
c.7572A>C (p.Pro2524=)
c.7575A>C (p.Pro2525=)
n.4524A>C
n.5838A>C
c.8796A>C (p.Pro2932=)
c.8175A>C (p.Pro2725=)
c.8895A>C (p.Pro2965=)
c.9393A>C (p.Pro3131=)
c.6990A>C (p.Pro2330=)
2g.237325658G>ACA351185541COL6A3c.1776C>T
c.8777C>T (p.Pro2926Leu)
c.1522C>T
c.261C>T (n.261C>T)
c.9395C>T (p.Pro3132Leu)
c.7571C>T (p.Pro2524Leu)
c.7574C>T (p.Pro2525Leu)
n.4523C>T
n.5837C>T
c.8795C>T (p.Pro2932Leu)
c.8174C>T (p.Pro2725Leu)
c.8894C>T (p.Pro2965Leu)
c.9392C>T (p.Pro3131Leu)
c.6989C>T (p.Pro2330Leu)
2g.237325658G>CCA351185542COL6A3c.1776C>G
c.8777C>G (p.Pro2926Arg)
c.1522C>G
c.261C>G (n.261C>G)
c.9395C>G (p.Pro3132Arg)
c.7571C>G (p.Pro2524Arg)
c.7574C>G (p.Pro2525Arg)
n.4523C>G
n.5837C>G
c.8795C>G (p.Pro2932Arg)
c.8174C>G (p.Pro2725Arg)
c.8894C>G (p.Pro2965Arg)
c.9392C>G (p.Pro3131Arg)
c.6989C>G (p.Pro2330Arg)
2g.237325658G>TCA351185543COL6A3c.1776C>A
c.8777C>A (p.Pro2926Gln)
c.1522C>A
c.261C>A (n.261C>A)
c.9395C>A (p.Pro3132Gln)
c.7571C>A (p.Pro2524Gln)
c.7574C>A (p.Pro2525Gln)
n.4523C>A
n.5837C>A
c.8795C>A (p.Pro2932Gln)
c.8174C>A (p.Pro2725Gln)
c.8894C>A (p.Pro2965Gln)
c.9392C>A (p.Pro3131Gln)
c.6989C>A (p.Pro2330Gln)
 gnomAD v4
2g.237325659G>ACA2187278COL6A3c.1775C>T
c.8776C>T (p.Pro2926Ser)
c.1521C>T
c.260C>T (n.260C>T)
c.9394C>T (p.Pro3132Ser)
c.7570C>T (p.Pro2524Ser)
c.7573C>T (p.Pro2525Ser)
n.4522C>T
n.5836C>T
c.8794C>T (p.Pro2932Ser)
c.8173C>T (p.Pro2725Ser)
c.8893C>T (p.Pro2965Ser)
c.9391C>T (p.Pro3131Ser)
c.6988C>T (p.Pro2330Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325659G>CCA351185545COL6A3c.1775C>G
c.8776C>G (p.Pro2926Ala)
c.1521C>G
c.260C>G (n.260C>G)
c.9394C>G (p.Pro3132Ala)
c.7570C>G (p.Pro2524Ala)
c.7573C>G (p.Pro2525Ala)
n.4522C>G
n.5836C>G
c.8794C>G (p.Pro2932Ala)
c.8173C>G (p.Pro2725Ala)
c.8893C>G (p.Pro2965Ala)
c.9391C>G (p.Pro3131Ala)
c.6988C>G (p.Pro2330Ala)
2g.237325659G=CA1337602330COL6A3c.1775C=
c.8776C= (p.Pro2926=)
c.1521C=
c.260C= (n.260C=)
c.9394C= (p.Pro3132=)
c.7570C= (p.Pro2524=)
c.7573C= (p.Pro2525=)
n.4522C=
n.5836C=
c.8794C= (p.Pro2932=)
c.8173C= (p.Pro2725=)
c.8893C= (p.Pro2965=)
c.9391C= (p.Pro3131=)
c.6988C= (p.Pro2330=)
2g.237325659G>TCA351185544COL6A3c.1775C>A
c.8776C>A (p.Pro2926Thr)
c.1521C>A
c.260C>A (n.260C>A)
c.9394C>A (p.Pro3132Thr)
c.7570C>A (p.Pro2524Thr)
c.7573C>A (p.Pro2525Thr)
n.4522C>A
n.5836C>A
c.8794C>A (p.Pro2932Thr)
c.8173C>A (p.Pro2725Thr)
c.8893C>A (p.Pro2965Thr)
c.9391C>A (p.Pro3131Thr)
c.6988C>A (p.Pro2330Thr)
2g.237325660A>CCA351185546COL6A3c.1774T>G
c.8775T>G (p.Asp2925Glu)
c.1520T>G
c.259T>G (n.259T>G)
c.9393T>G (p.Asp3131Glu)
c.7569T>G (p.Asp2523Glu)
c.7572T>G (p.Asp2524Glu)
n.4521T>G
n.5835T>G
c.8793T>G (p.Asp2931Glu)
c.8172T>G (p.Asp2724Glu)
c.8892T>G (p.Asp2964Glu)
c.9390T>G (p.Asp3130Glu)
c.6987T>G (p.Asp2329Glu)
2g.237325660A>GCA431674622COL6A3c.1774T>C
c.8775T>C (p.Asp2925=)
c.1520T>C
c.259T>C (n.259T>C)
c.9393T>C (p.Asp3131=)
c.7569T>C (p.Asp2523=)
c.7572T>C (p.Asp2524=)
n.4521T>C
n.5835T>C
c.8793T>C (p.Asp2931=)
c.8172T>C (p.Asp2724=)
c.8892T>C (p.Asp2964=)
c.9390T>C (p.Asp3130=)
c.6987T>C (p.Asp2329=)
2g.237325660A>TCA351185547COL6A3c.1774T>A
c.8775T>A (p.Asp2925Glu)
c.1520T>A
c.259T>A (n.259T>A)
c.9393T>A (p.Asp3131Glu)
c.7569T>A (p.Asp2523Glu)
c.7572T>A (p.Asp2524Glu)
n.4521T>A
n.5835T>A
c.8793T>A (p.Asp2931Glu)
c.8172T>A (p.Asp2724Glu)
c.8892T>A (p.Asp2964Glu)
c.9390T>A (p.Asp3130Glu)
c.6987T>A (p.Asp2329Glu)
2g.237325661T>ACA351185548COL6A3c.1773A>T
c.8774A>T (p.Asp2925Val)
c.1519A>T
c.258A>T (n.258A>T)
c.9392A>T (p.Asp3131Val)
c.7568A>T (p.Asp2523Val)
c.7571A>T (p.Asp2524Val)
n.4520A>T
n.5834A>T
c.8792A>T (p.Asp2931Val)
c.8171A>T (p.Asp2724Val)
c.8891A>T (p.Asp2964Val)
c.9389A>T (p.Asp3130Val)
c.6986A>T (p.Asp2329Val)
2g.237325661T>CCA351185549COL6A3c.1773A>G
c.8774A>G (p.Asp2925Gly)
c.1519A>G
c.258A>G (n.258A>G)
c.9392A>G (p.Asp3131Gly)
c.7568A>G (p.Asp2523Gly)
c.7571A>G (p.Asp2524Gly)
n.4520A>G
n.5834A>G
c.8792A>G (p.Asp2931Gly)
c.8171A>G (p.Asp2724Gly)
c.8891A>G (p.Asp2964Gly)
c.9389A>G (p.Asp3130Gly)
c.6986A>G (p.Asp2329Gly)
2g.237325661T>GCA351185550COL6A3c.1773A>C
c.8774A>C (p.Asp2925Ala)
c.1519A>C
c.258A>C (n.258A>C)
c.9392A>C (p.Asp3131Ala)
c.7568A>C (p.Asp2523Ala)
c.7571A>C (p.Asp2524Ala)
n.4520A>C
n.5834A>C
c.8792A>C (p.Asp2931Ala)
c.8171A>C (p.Asp2724Ala)
c.8891A>C (p.Asp2964Ala)
c.9389A>C (p.Asp3130Ala)
c.6986A>C (p.Asp2329Ala)
2g.237325662C>ACA351185551COL6A3c.1772G>T
c.8773G>T (p.Asp2925Tyr)
c.1518G>T
c.257G>T (n.257G>T)
c.9391G>T (p.Asp3131Tyr)
c.7567G>T (p.Asp2523Tyr)
c.7570G>T (p.Asp2524Tyr)
n.4519G>T
n.5833G>T
c.8791G>T (p.Asp2931Tyr)
c.8170G>T (p.Asp2724Tyr)
c.8890G>T (p.Asp2964Tyr)
c.9388G>T (p.Asp3130Tyr)
c.6985G>T (p.Asp2329Tyr)
2g.237325662C=CA1337602331COL6A3c.1772G=
c.8773G= (p.Asp2925=)
c.1518G=
c.257G= (n.257G=)
c.9391G= (p.Asp3131=)
c.7567G= (p.Asp2523=)
c.7570G= (p.Asp2524=)
n.4519G=
n.5833G=
c.8791G= (p.Asp2931=)
c.8170G= (p.Asp2724=)
c.8890G= (p.Asp2964=)
c.9388G= (p.Asp3130=)
c.6985G= (p.Asp2329=)
2g.237325662C>GCA2187279COL6A3c.1772G>C
c.8773G>C (p.Asp2925His)
c.1518G>C
c.257G>C (n.257G>C)
c.9391G>C (p.Asp3131His)
c.7567G>C (p.Asp2523His)
c.7570G>C (p.Asp2524His)
n.4519G>C
n.5833G>C
c.8791G>C (p.Asp2931His)
c.8170G>C (p.Asp2724His)
c.8890G>C (p.Asp2964His)
c.9388G>C (p.Asp3130His)
c.6985G>C (p.Asp2329His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237325662C>TCA351185552COL6A3c.1772G>A
c.8773G>A (p.Asp2925Asn)
c.1518G>A
c.257G>A (n.257G>A)
c.9391G>A (p.Asp3131Asn)
c.7567G>A (p.Asp2523Asn)
c.7570G>A (p.Asp2524Asn)
n.4519G>A
n.5833G>A
c.8791G>A (p.Asp2931Asn)
c.8170G>A (p.Asp2724Asn)
c.8890G>A (p.Asp2964Asn)
c.9388G>A (p.Asp3130Asn)
c.6985G>A (p.Asp2329Asn)
 ClinVar COSMIC
2g.237325663A=CA1337602332COL6A3c.1771T=
c.8772T= (p.Tyr2924=)
c.1517T=
c.256T= (n.256T=)
c.9390T= (p.Tyr3130=)
c.7566T= (p.Tyr2522=)
c.7569T= (p.Tyr2523=)
n.4518T=
n.5832T=
c.8790T= (p.Tyr2930=)
c.8169T= (p.Tyr2723=)
c.8889T= (p.Tyr2963=)
c.9387T= (p.Tyr3129=)
c.6984T= (p.Tyr2328=)
2g.237325663A>CCA351185553COL6A3c.1771T>G
c.8772T>G (p.Tyr2924Ter)
c.1517T>G
c.256T>G (n.256T>G)
c.9390T>G (p.Tyr3130Ter)
c.7566T>G (p.Tyr2522Ter)
c.7569T>G (p.Tyr2523Ter)
n.4518T>G
n.5832T>G
c.8790T>G (p.Tyr2930Ter)
c.8169T>G (p.Tyr2723Ter)
c.8889T>G (p.Tyr2963Ter)
c.9387T>G (p.Tyr3129Ter)
c.6984T>G (p.Tyr2328Ter)
 gnomAD v4
2g.237325663A>GCA431674623COL6A3c.1771T>C
c.8772T>C (p.Tyr2924=)
c.1517T>C
c.256T>C (n.256T>C)
c.9390T>C (p.Tyr3130=)
c.7566T>C (p.Tyr2522=)
c.7569T>C (p.Tyr2523=)
n.4518T>C
n.5832T>C
c.8790T>C (p.Tyr2930=)
c.8169T>C (p.Tyr2723=)
c.8889T>C (p.Tyr2963=)
c.9387T>C (p.Tyr3129=)
c.6984T>C (p.Tyr2328=)
 dbSNP gnomAD v2 gnomAD v4
2g.237325663A>TCA351185554COL6A3c.1771T>A
c.8772T>A (p.Tyr2924Ter)
c.1517T>A
c.256T>A (n.256T>A)
c.9390T>A (p.Tyr3130Ter)
c.7566T>A (p.Tyr2522Ter)
c.7569T>A (p.Tyr2523Ter)
n.4518T>A
n.5832T>A
c.8790T>A (p.Tyr2930Ter)
c.8169T>A (p.Tyr2723Ter)
c.8889T>A (p.Tyr2963Ter)
c.9387T>A (p.Tyr3129Ter)
c.6984T>A (p.Tyr2328Ter)
2g.237325664T>ACA351185555COL6A3c.1770A>T
c.8771A>T (p.Tyr2924Phe)
c.1516A>T
c.255A>T (n.255A>T)
c.9389A>T (p.Tyr3130Phe)
c.7565A>T (p.Tyr2522Phe)
c.7568A>T (p.Tyr2523Phe)
n.4517A>T
n.5831A>T
c.8789A>T (p.Tyr2930Phe)
c.8168A>T (p.Tyr2723Phe)
c.8888A>T (p.Tyr2963Phe)
c.9386A>T (p.Tyr3129Phe)
c.6983A>T (p.Tyr2328Phe)
2g.237325664T>CCA351185556COL6A3c.1770A>G
c.8771A>G (p.Tyr2924Cys)
c.1516A>G
c.255A>G (n.255A>G)
c.9389A>G (p.Tyr3130Cys)
c.7565A>G (p.Tyr2522Cys)
c.7568A>G (p.Tyr2523Cys)
n.4517A>G
n.5831A>G
c.8789A>G (p.Tyr2930Cys)
c.8168A>G (p.Tyr2723Cys)
c.8888A>G (p.Tyr2963Cys)
c.9386A>G (p.Tyr3129Cys)
c.6983A>G (p.Tyr2328Cys)
2g.237325664T>GCA351185557COL6A3c.1770A>C
c.8771A>C (p.Tyr2924Ser)
c.1516A>C
c.255A>C (n.255A>C)
c.9389A>C (p.Tyr3130Ser)
c.7565A>C (p.Tyr2522Ser)
c.7568A>C (p.Tyr2523Ser)
n.4517A>C
n.5831A>C
c.8789A>C (p.Tyr2930Ser)
c.8168A>C (p.Tyr2723Ser)
c.8888A>C (p.Tyr2963Ser)
c.9386A>C (p.Tyr3129Ser)
c.6983A>C (p.Tyr2328Ser)
2g.237325665A>CCA351185559COL6A3c.1769T>G
c.8770T>G (p.Tyr2924Asp)
c.1515T>G
c.254T>G (n.254T>G)
c.9388T>G (p.Tyr3130Asp)
c.7564T>G (p.Tyr2522Asp)
c.7567T>G (p.Tyr2523Asp)
n.4516T>G
n.5830T>G
c.8788T>G (p.Tyr2930Asp)
c.8167T>G (p.Tyr2723Asp)
c.8887T>G (p.Tyr2963Asp)
c.9385T>G (p.Tyr3129Asp)
c.6982T>G (p.Tyr2328Asp)
 gnomAD v4
2g.237325665A>GCA351185560COL6A3c.1769T>C
c.8770T>C (p.Tyr2924His)
c.1515T>C
c.254T>C (n.254T>C)
c.9388T>C (p.Tyr3130His)
c.7564T>C (p.Tyr2522His)
c.7567T>C (p.Tyr2523His)
n.4516T>C
n.5830T>C
c.8788T>C (p.Tyr2930His)
c.8167T>C (p.Tyr2723His)
c.8887T>C (p.Tyr2963His)
c.9385T>C (p.Tyr3129His)
c.6982T>C (p.Tyr2328His)
2g.237325665A>TCA351185558COL6A3c.1769T>A
c.8770T>A (p.Tyr2924Asn)
c.1515T>A
c.254T>A (n.254T>A)
c.9388T>A (p.Tyr3130Asn)
c.7564T>A (p.Tyr2522Asn)
c.7567T>A (p.Tyr2523Asn)
n.4516T>A
n.5830T>A
c.8788T>A (p.Tyr2930Asn)
c.8167T>A (p.Tyr2723Asn)
c.8887T>A (p.Tyr2963Asn)
c.9385T>A (p.Tyr3129Asn)
c.6982T>A (p.Tyr2328Asn)
2g.237325665_237325669dupCA2586971652COL6A3c.1765_1769dup
c.8766_8770dup (p.Tyr2924CysfsTer?)
c.1511_1515dup
c.250_254dup (n.250_254dup)
c.9384_9388dup (p.Tyr3130CysfsTer?)
c.7560_7564dup (p.Tyr2522CysfsTer?)
c.7563_7567dup (p.Tyr2523CysfsTer?)
n.4512_4516dup
n.5826_5830dup
c.8784_8788dup (p.Tyr2930CysfsTer?)
c.8163_8167dup (p.Tyr2723CysfsTer?)
c.8883_8887dup (p.Tyr2963CysfsTer?)
c.9381_9385dup (p.Tyr3129CysfsTer?)
c.6978_6982dup (p.Tyr2328CysfsTer?)
2g.237325666G>ACA431674625COL6A3c.1768C>T
c.8769C>T (p.Tyr2923=)
c.1514C>T
c.253C>T (n.253C>T)
c.9387C>T (p.Tyr3129=)
c.7563C>T (p.Tyr2521=)
c.7566C>T (p.Tyr2522=)
n.4515C>T
n.5829C>T
c.8787C>T (p.Tyr2929=)
c.8166C>T (p.Tyr2722=)
c.8886C>T (p.Tyr2962=)
c.9384C>T (p.Tyr3128=)
c.6981C>T (p.Tyr2327=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237325666G>CCA351185562COL6A3c.1768C>G
c.8769C>G (p.Tyr2923Ter)
c.1514C>G
c.253C>G (n.253C>G)
c.9387C>G (p.Tyr3129Ter)
c.7563C>G (p.Tyr2521Ter)
c.7566C>G (p.Tyr2522Ter)
n.4515C>G
n.5829C>G
c.8787C>G (p.Tyr2929Ter)
c.8166C>G (p.Tyr2722Ter)
c.8886C>G (p.Tyr2962Ter)
c.9384C>G (p.Tyr3128Ter)
c.6981C>G (p.Tyr2327Ter)
2g.237325666G=CA1337602333COL6A3c.1768C=
c.8769C= (p.Tyr2923=)
c.1514C=
c.253C= (n.253C=)
c.9387C= (p.Tyr3129=)
c.7563C= (p.Tyr2521=)
c.7566C= (p.Tyr2522=)
n.4515C=
n.5829C=
c.8787C= (p.Tyr2929=)
c.8166C= (p.Tyr2722=)
c.8886C= (p.Tyr2962=)
c.9384C= (p.Tyr3128=)
c.6981C= (p.Tyr2327=)
2g.237325666G>TCA351185561COL6A3c.1768C>A
c.8769C>A (p.Tyr2923Ter)
c.1514C>A
c.253C>A (n.253C>A)
c.9387C>A (p.Tyr3129Ter)
c.7563C>A (p.Tyr2521Ter)
c.7566C>A (p.Tyr2522Ter)
n.4515C>A
n.5829C>A
c.8787C>A (p.Tyr2929Ter)
c.8166C>A (p.Tyr2722Ter)
c.8886C>A (p.Tyr2962Ter)
c.9384C>A (p.Tyr3128Ter)
c.6981C>A (p.Tyr2327Ter)
2g.237325667T>ACA351185563COL6A3c.1767A>T
c.8768A>T (p.Tyr2923Phe)
c.1513A>T
c.252A>T (n.252A>T)
c.9386A>T (p.Tyr3129Phe)
c.7562A>T (p.Tyr2521Phe)
c.7565A>T (p.Tyr2522Phe)
n.4514A>T
n.5828A>T
c.8786A>T (p.Tyr2929Phe)
c.8165A>T (p.Tyr2722Phe)
c.8885A>T (p.Tyr2962Phe)
c.9383A>T (p.Tyr3128Phe)
c.6980A>T (p.Tyr2327Phe)
2g.237325667T>CCA2187280COL6A3c.1767A>G
c.8768A>G (p.Tyr2923Cys)
c.1513A>G
c.252A>G (n.252A>G)
c.9386A>G (p.Tyr3129Cys)
c.7562A>G (p.Tyr2521Cys)
c.7565A>G (p.Tyr2522Cys)
n.4514A>G
n.5828A>G
c.8786A>G (p.Tyr2929Cys)
c.8165A>G (p.Tyr2722Cys)
c.8885A>G (p.Tyr2962Cys)
c.9383A>G (p.Tyr3128Cys)
c.6980A>G (p.Tyr2327Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325667T>GCA351185564COL6A3c.1767A>C
c.8768A>C (p.Tyr2923Ser)
c.1513A>C
c.252A>C (n.252A>C)
c.9386A>C (p.Tyr3129Ser)
c.7562A>C (p.Tyr2521Ser)
c.7565A>C (p.Tyr2522Ser)
n.4514A>C
n.5828A>C
c.8786A>C (p.Tyr2929Ser)
c.8165A>C (p.Tyr2722Ser)
c.8885A>C (p.Tyr2962Ser)
c.9383A>C (p.Tyr3128Ser)
c.6980A>C (p.Tyr2327Ser)
2g.237325667T=CA1337602334COL6A3c.1767A=
c.8768A= (p.Tyr2923=)
c.1513A=
c.252A= (n.252A=)
c.9386A= (p.Tyr3129=)
c.7562A= (p.Tyr2521=)
c.7565A= (p.Tyr2522=)
n.4514A=
n.5828A=
c.8786A= (p.Tyr2929=)
c.8165A= (p.Tyr2722=)
c.8885A= (p.Tyr2962=)
c.9383A= (p.Tyr3128=)
c.6980A= (p.Tyr2327=)
2g.237325667_237325669delCA2573130143COL6A3c.1765_1767del
c.8766_8768del (p.Trp2922_Tyr2923delinsCys)
c.1511_1513del
c.250_252del (n.250_252del)
c.9384_9386del (p.Trp3128_Tyr3129delinsCys)
c.7560_7562del (p.Trp2520_Tyr2521delinsCys)
c.7563_7565del (p.Trp2521_Tyr2522delinsCys)
n.4512_4514del
n.5826_5828del
c.8784_8786del (p.Trp2928_Tyr2929delinsCys)
c.8163_8165del (p.Trp2721_Tyr2722delinsCys)
c.8883_8885del (p.Trp2961_Tyr2962delinsCys)
c.9381_9383del (p.Trp3127_Tyr3128delinsCys)
c.6978_6980del (p.Trp2326_Tyr2327delinsCys)
2g.237325668A>CCA351185565COL6A3c.1766T>G
c.8767T>G (p.Tyr2923Asp)
c.1512T>G
c.251T>G (n.251T>G)
c.9385T>G (p.Tyr3129Asp)
c.7561T>G (p.Tyr2521Asp)
c.7564T>G (p.Tyr2522Asp)
n.4513T>G
n.5827T>G
c.8785T>G (p.Tyr2929Asp)
c.8164T>G (p.Tyr2722Asp)
c.8884T>G (p.Tyr2962Asp)
c.9382T>G (p.Tyr3128Asp)
c.6979T>G (p.Tyr2327Asp)
2g.237325668A>GCA351185567COL6A3c.1766T>C
c.8767T>C (p.Tyr2923His)
c.1512T>C
c.251T>C (n.251T>C)
c.9385T>C (p.Tyr3129His)
c.7561T>C (p.Tyr2521His)
c.7564T>C (p.Tyr2522His)
n.4513T>C
n.5827T>C
c.8785T>C (p.Tyr2929His)
c.8164T>C (p.Tyr2722His)
c.8884T>C (p.Tyr2962His)
c.9382T>C (p.Tyr3128His)
c.6979T>C (p.Tyr2327His)
2g.237325668A>TCA351185566COL6A3c.1766T>A
c.8767T>A (p.Tyr2923Asn)
c.1512T>A
c.251T>A (n.251T>A)
c.9385T>A (p.Tyr3129Asn)
c.7561T>A (p.Tyr2521Asn)
c.7564T>A (p.Tyr2522Asn)
n.4513T>A
n.5827T>A
c.8785T>A (p.Tyr2929Asn)
c.8164T>A (p.Tyr2722Asn)
c.8884T>A (p.Tyr2962Asn)
c.9382T>A (p.Tyr3128Asn)
c.6979T>A (p.Tyr2327Asn)
2g.237325669C>ACA351185568COL6A3c.1765G>T
c.8766G>T (p.Trp2922Cys)
c.1511G>T
c.250G>T (n.250G>T)
c.9384G>T (p.Trp3128Cys)
c.7560G>T (p.Trp2520Cys)
c.7563G>T (p.Trp2521Cys)
n.4512G>T
n.5826G>T
c.8784G>T (p.Trp2928Cys)
c.8163G>T (p.Trp2721Cys)
c.8883G>T (p.Trp2961Cys)
c.9381G>T (p.Trp3127Cys)
c.6978G>T (p.Trp2326Cys)
2g.237325669C=CA1337602335COL6A3c.1765G=
c.8766G= (p.Trp2922=)
c.1511G=
c.250G= (n.250G=)
c.9384G= (p.Trp3128=)
c.7560G= (p.Trp2520=)
c.7563G= (p.Trp2521=)
n.4512G=
n.5826G=
c.8784G= (p.Trp2928=)
c.8163G= (p.Trp2721=)
c.8883G= (p.Trp2961=)
c.9381G= (p.Trp3127=)
c.6978G= (p.Trp2326=)
2g.237325669C>GCA351185569COL6A3c.1765G>C
c.8766G>C (p.Trp2922Cys)
c.1511G>C
c.250G>C (n.250G>C)
c.9384G>C (p.Trp3128Cys)
c.7560G>C (p.Trp2520Cys)
c.7563G>C (p.Trp2521Cys)
n.4512G>C
n.5826G>C
c.8784G>C (p.Trp2928Cys)
c.8163G>C (p.Trp2721Cys)
c.8883G>C (p.Trp2961Cys)
c.9381G>C (p.Trp3127Cys)
c.6978G>C (p.Trp2326Cys)
2g.237325669C>TCA351185570COL6A3c.1765G>A
c.8766G>A (p.Trp2922Ter)
c.1511G>A
c.250G>A (n.250G>A)
c.9384G>A (p.Trp3128Ter)
c.7560G>A (p.Trp2520Ter)
c.7563G>A (p.Trp2521Ter)
n.4512G>A
n.5826G>A
c.8784G>A (p.Trp2928Ter)
c.8163G>A (p.Trp2721Ter)
c.8883G>A (p.Trp2961Ter)
c.9381G>A (p.Trp3127Ter)
c.6978G>A (p.Trp2326Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.237325670C>ACA351185571COL6A3c.1764G>T
c.8765G>T (p.Trp2922Leu)
c.1510G>T
c.249G>T (n.249G>T)
c.9383G>T (p.Trp3128Leu)
c.7559G>T (p.Trp2520Leu)
c.7562G>T (p.Trp2521Leu)
n.4511G>T
n.5825G>T
c.8783G>T (p.Trp2928Leu)
c.8162G>T (p.Trp2721Leu)
c.8882G>T (p.Trp2961Leu)
c.9380G>T (p.Trp3127Leu)
c.6977G>T (p.Trp2326Leu)
2g.237325670C>GCA351185572COL6A3c.1764G>C
c.8765G>C (p.Trp2922Ser)
c.1510G>C
c.249G>C (n.249G>C)
c.9383G>C (p.Trp3128Ser)
c.7559G>C (p.Trp2520Ser)
c.7562G>C (p.Trp2521Ser)
n.4511G>C
n.5825G>C
c.8783G>C (p.Trp2928Ser)
c.8162G>C (p.Trp2721Ser)
c.8882G>C (p.Trp2961Ser)
c.9380G>C (p.Trp3127Ser)
c.6977G>C (p.Trp2326Ser)
 gnomAD v4
2g.237325670C>TCA351185573COL6A3c.1764G>A
c.8765G>A (p.Trp2922Ter)
c.1510G>A
c.249G>A (n.249G>A)
c.9383G>A (p.Trp3128Ter)
c.7559G>A (p.Trp2520Ter)
c.7562G>A (p.Trp2521Ter)
n.4511G>A
n.5825G>A
c.8783G>A (p.Trp2928Ter)
c.8162G>A (p.Trp2721Ter)
c.8882G>A (p.Trp2961Ter)
c.9380G>A (p.Trp3127Ter)
c.6977G>A (p.Trp2326Ter)
 gnomAD v4
2g.237325671A>CCA351185574COL6A3c.1763T>G
c.8764T>G (p.Trp2922Gly)
c.1509T>G
c.248T>G (n.248T>G)
c.9382T>G (p.Trp3128Gly)
c.7558T>G (p.Trp2520Gly)
c.7561T>G (p.Trp2521Gly)
n.4510T>G
n.5824T>G
c.8782T>G (p.Trp2928Gly)
c.8161T>G (p.Trp2721Gly)
c.8881T>G (p.Trp2961Gly)
c.9379T>G (p.Trp3127Gly)
c.6976T>G (p.Trp2326Gly)
 ClinVar dbSNP
2g.237325671A>GCA351185575COL6A3c.1763T>C
c.8764T>C (p.Trp2922Arg)
c.1509T>C
c.248T>C (n.248T>C)
c.9382T>C (p.Trp3128Arg)
c.7558T>C (p.Trp2520Arg)
c.7561T>C (p.Trp2521Arg)
n.4510T>C
n.5824T>C
c.8782T>C (p.Trp2928Arg)
c.8161T>C (p.Trp2721Arg)
c.8881T>C (p.Trp2961Arg)
c.9379T>C (p.Trp3127Arg)
c.6976T>C (p.Trp2326Arg)
2g.237325671A>TCA351185576COL6A3c.1763T>A
c.8764T>A (p.Trp2922Arg)
c.1509T>A
c.248T>A (n.248T>A)
c.9382T>A (p.Trp3128Arg)
c.7558T>A (p.Trp2520Arg)
c.7561T>A (p.Trp2521Arg)
n.4510T>A
n.5824T>A
c.8782T>A (p.Trp2928Arg)
c.8161T>A (p.Trp2721Arg)
c.8881T>A (p.Trp2961Arg)
c.9379T>A (p.Trp3127Arg)
c.6976T>A (p.Trp2326Arg)
2g.237325672T>ACA351185577COL6A3c.1762A>T
c.8763A>T (p.Lys2921Asn)
c.1508A>T
c.247A>T (n.247A>T)
c.9381A>T (p.Lys3127Asn)
c.7557A>T (p.Lys2519Asn)
c.7560A>T (p.Lys2520Asn)
n.4509A>T
n.5823A>T
c.8781A>T (p.Lys2927Asn)
c.8160A>T (p.Lys2720Asn)
c.8880A>T (p.Lys2960Asn)
c.9378A>T (p.Lys3126Asn)
c.6975A>T (p.Lys2325Asn)
2g.237325672T>CCA431674626COL6A3c.1762A>G
c.8763A>G (p.Lys2921=)
c.1508A>G
c.247A>G (n.247A>G)
c.9381A>G (p.Lys3127=)
c.7557A>G (p.Lys2519=)
c.7560A>G (p.Lys2520=)
n.4509A>G
n.5823A>G
c.8781A>G (p.Lys2927=)
c.8160A>G (p.Lys2720=)
c.8880A>G (p.Lys2960=)
c.9378A>G (p.Lys3126=)
c.6975A>G (p.Lys2325=)
2g.237325672T>GCA351185578COL6A3c.1762A>C
c.8763A>C (p.Lys2921Asn)
c.1508A>C
c.247A>C (n.247A>C)
c.9381A>C (p.Lys3127Asn)
c.7557A>C (p.Lys2519Asn)
c.7560A>C (p.Lys2520Asn)
n.4509A>C
n.5823A>C
c.8781A>C (p.Lys2927Asn)
c.8160A>C (p.Lys2720Asn)
c.8880A>C (p.Lys2960Asn)
c.9378A>C (p.Lys3126Asn)
c.6975A>C (p.Lys2325Asn)
2g.237325673T>ACA351185580COL6A3c.1761A>T
c.8762A>T (p.Lys2921Ile)
c.1507A>T
c.246A>T (n.246A>T)
c.9380A>T (p.Lys3127Ile)
c.7556A>T (p.Lys2519Ile)
c.7559A>T (p.Lys2520Ile)
n.4508A>T
n.5822A>T
c.8780A>T (p.Lys2927Ile)
c.8159A>T (p.Lys2720Ile)
c.8879A>T (p.Lys2960Ile)
c.9377A>T (p.Lys3126Ile)
c.6974A>T (p.Lys2325Ile)
2g.237325673T>CCA2187281COL6A3c.1761A>G
c.8762A>G (p.Lys2921Arg)
c.1507A>G
c.246A>G (n.246A>G)
c.9380A>G (p.Lys3127Arg)
c.7556A>G (p.Lys2519Arg)
c.7559A>G (p.Lys2520Arg)
n.4508A>G
n.5822A>G
c.8780A>G (p.Lys2927Arg)
c.8159A>G (p.Lys2720Arg)
c.8879A>G (p.Lys2960Arg)
c.9377A>G (p.Lys3126Arg)
c.6974A>G (p.Lys2325Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325673T>GCA351185579COL6A3c.1761A>C
c.8762A>C (p.Lys2921Thr)
c.1507A>C
c.246A>C (n.246A>C)
c.9380A>C (p.Lys3127Thr)
c.7556A>C (p.Lys2519Thr)
c.7559A>C (p.Lys2520Thr)
n.4508A>C
n.5822A>C
c.8780A>C (p.Lys2927Thr)
c.8159A>C (p.Lys2720Thr)
c.8879A>C (p.Lys2960Thr)
c.9377A>C (p.Lys3126Thr)
c.6974A>C (p.Lys2325Thr)
2g.237325673T=CA1337602336COL6A3c.1761A=
c.8762A= (p.Lys2921=)
c.1507A=
c.246A= (n.246A=)
c.9380A= (p.Lys3127=)
c.7556A= (p.Lys2519=)
c.7559A= (p.Lys2520=)
n.4508A=
n.5822A=
c.8780A= (p.Lys2927=)
c.8159A= (p.Lys2720=)
c.8879A= (p.Lys2960=)
c.9377A= (p.Lys3126=)
c.6974A= (p.Lys2325=)
2g.237325674T>ACA351185581COL6A3c.1760A>T
c.8761A>T (p.Lys2921Ter)
c.1506A>T
c.245A>T (n.245A>T)
c.9379A>T (p.Lys3127Ter)
c.7555A>T (p.Lys2519Ter)
c.7558A>T (p.Lys2520Ter)
n.4507A>T
n.5821A>T
c.8779A>T (p.Lys2927Ter)
c.8158A>T (p.Lys2720Ter)
c.8878A>T (p.Lys2960Ter)
c.9376A>T (p.Lys3126Ter)
c.6973A>T (p.Lys2325Ter)
2g.237325674T>CCA351185582COL6A3c.1760A>G
c.8761A>G (p.Lys2921Glu)
c.1506A>G
c.245A>G (n.245A>G)
c.9379A>G (p.Lys3127Glu)
c.7555A>G (p.Lys2519Glu)
c.7558A>G (p.Lys2520Glu)
n.4507A>G
n.5821A>G
c.8779A>G (p.Lys2927Glu)
c.8158A>G (p.Lys2720Glu)
c.8878A>G (p.Lys2960Glu)
c.9376A>G (p.Lys3126Glu)
c.6973A>G (p.Lys2325Glu)
2g.237325674T>GCA351185583COL6A3c.1760A>C
c.8761A>C (p.Lys2921Gln)
c.1506A>C
c.245A>C (n.245A>C)
c.9379A>C (p.Lys3127Gln)
c.7555A>C (p.Lys2519Gln)
c.7558A>C (p.Lys2520Gln)
n.4507A>C
n.5821A>C
c.8779A>C (p.Lys2927Gln)
c.8158A>C (p.Lys2720Gln)
c.8878A>C (p.Lys2960Gln)
c.9376A>C (p.Lys3126Gln)
c.6973A>C (p.Lys2325Gln)
2g.237325675_237325680dupCA2577289195COL6A3c.1755_1760dup
c.8756_8761dup (p.Leu2920_Lys2921insIleLeu)
c.1501_1506dup
c.240_245dup (n.240_245dup)
c.9374_9379dup (p.Leu3126_Lys3127insIleLeu)
c.7550_7555dup (p.Leu2518_Lys2519insIleLeu)
c.7553_7558dup (p.Leu2519_Lys2520insIleLeu)
n.4502_4507dup
n.5816_5821dup
c.8774_8779dup (p.Leu2926_Lys2927insIleLeu)
c.8153_8158dup (p.Leu2719_Lys2720insIleLeu)
c.8873_8878dup (p.Leu2959_Lys2960insIleLeu)
c.9371_9376dup (p.Leu3125_Lys3126insIleLeu)
c.6968_6973dup (p.Leu2324_Lys2325insIleLeu)
2g.237325675T>ACA351185584COL6A3c.1759A>T
c.8760A>T (p.Leu2920Phe)
c.1505A>T
c.244A>T (n.244A>T)
c.9378A>T (p.Leu3126Phe)
c.7554A>T (p.Leu2518Phe)
c.7557A>T (p.Leu2519Phe)
n.4506A>T
n.5820A>T
c.8778A>T (p.Leu2926Phe)
c.8157A>T (p.Leu2719Phe)
c.8877A>T (p.Leu2959Phe)
c.9375A>T (p.Leu3125Phe)
c.6972A>T (p.Leu2324Phe)
2g.237325675T>CCA431674627COL6A3c.1759A>G
c.8760A>G (p.Leu2920=)
c.1505A>G
c.244A>G (n.244A>G)
c.9378A>G (p.Leu3126=)
c.7554A>G (p.Leu2518=)
c.7557A>G (p.Leu2519=)
n.4506A>G
n.5820A>G
c.8778A>G (p.Leu2926=)
c.8157A>G (p.Leu2719=)
c.8877A>G (p.Leu2959=)
c.9375A>G (p.Leu3125=)
c.6972A>G (p.Leu2324=)
2g.237325675T>GCA351185585COL6A3c.1759A>C
c.8760A>C (p.Leu2920Phe)
c.1505A>C
c.244A>C (n.244A>C)
c.9378A>C (p.Leu3126Phe)
c.7554A>C (p.Leu2518Phe)
c.7557A>C (p.Leu2519Phe)
n.4506A>C
n.5820A>C
c.8778A>C (p.Leu2926Phe)
c.8157A>C (p.Leu2719Phe)
c.8877A>C (p.Leu2959Phe)
c.9375A>C (p.Leu3125Phe)
c.6972A>C (p.Leu2324Phe)
2g.237325676A>CCA351185586COL6A3c.1758T>G
c.8759T>G (p.Leu2920Ter)
c.1504T>G
c.243T>G (n.243T>G)
c.9377T>G (p.Leu3126Ter)
c.7553T>G (p.Leu2518Ter)
c.7556T>G (p.Leu2519Ter)
n.4505T>G
n.5819T>G
c.8777T>G (p.Leu2926Ter)
c.8156T>G (p.Leu2719Ter)
c.8876T>G (p.Leu2959Ter)
c.9374T>G (p.Leu3125Ter)
c.6971T>G (p.Leu2324Ter)
2g.237325676A>GCA351185587COL6A3c.1758T>C
c.8759T>C (p.Leu2920Ser)
c.1504T>C
c.243T>C (n.243T>C)
c.9377T>C (p.Leu3126Ser)
c.7553T>C (p.Leu2518Ser)
c.7556T>C (p.Leu2519Ser)
n.4505T>C
n.5819T>C
c.8777T>C (p.Leu2926Ser)
c.8156T>C (p.Leu2719Ser)
c.8876T>C (p.Leu2959Ser)
c.9374T>C (p.Leu3125Ser)
c.6971T>C (p.Leu2324Ser)
2g.237325676A>TCA351185588COL6A3c.1758T>A
c.8759T>A (p.Leu2920Ter)
c.1504T>A
c.243T>A (n.243T>A)
c.9377T>A (p.Leu3126Ter)
c.7553T>A (p.Leu2518Ter)
c.7556T>A (p.Leu2519Ter)
n.4505T>A
n.5819T>A
c.8777T>A (p.Leu2926Ter)
c.8156T>A (p.Leu2719Ter)
c.8876T>A (p.Leu2959Ter)
c.9374T>A (p.Leu3125Ter)
c.6971T>A (p.Leu2324Ter)
2g.237325677A>CCA351185589COL6A3c.1757T>G
c.8758T>G (p.Leu2920Val)
c.1503T>G
c.242T>G (n.242T>G)
c.9376T>G (p.Leu3126Val)
c.7552T>G (p.Leu2518Val)
c.7555T>G (p.Leu2519Val)
n.4504T>G
n.5818T>G
c.8776T>G (p.Leu2926Val)
c.8155T>G (p.Leu2719Val)
c.8875T>G (p.Leu2959Val)
c.9373T>G (p.Leu3125Val)
c.6970T>G (p.Leu2324Val)
2g.237325677A>GCA431674628COL6A3c.1757T>C
c.8758T>C (p.Leu2920=)
c.1503T>C
c.242T>C (n.242T>C)
c.9376T>C (p.Leu3126=)
c.7552T>C (p.Leu2518=)
c.7555T>C (p.Leu2519=)
n.4504T>C
n.5818T>C
c.8776T>C (p.Leu2926=)
c.8155T>C (p.Leu2719=)
c.8875T>C (p.Leu2959=)
c.9373T>C (p.Leu3125=)
c.6970T>C (p.Leu2324=)
2g.237325677A>TCA351185590COL6A3c.1757T>A
c.8758T>A (p.Leu2920Ile)
c.1503T>A
c.242T>A (n.242T>A)
c.9376T>A (p.Leu3126Ile)
c.7552T>A (p.Leu2518Ile)
c.7555T>A (p.Leu2519Ile)
n.4504T>A
n.5818T>A
c.8776T>A (p.Leu2926Ile)
c.8155T>A (p.Leu2719Ile)
c.8875T>A (p.Leu2959Ile)
c.9373T>A (p.Leu3125Ile)
c.6970T>A (p.Leu2324Ile)
2g.237325678T>ACA431674630COL6A3c.1756A>T
c.8757A>T (p.Ile2919=)
c.1502A>T
c.241A>T (n.241A>T)
c.9375A>T (p.Ile3125=)
c.7551A>T (p.Ile2517=)
c.7554A>T (p.Ile2518=)
n.4503A>T
n.5817A>T
c.8775A>T (p.Ile2925=)
c.8154A>T (p.Ile2718=)
c.8874A>T (p.Ile2958=)
c.9372A>T (p.Ile3124=)
c.6969A>T (p.Ile2323=)
2g.237325678T>CCA351185591COL6A3c.1756A>G
c.8757A>G (p.Ile2919Met)
c.1502A>G
c.241A>G (n.241A>G)
c.9375A>G (p.Ile3125Met)
c.7551A>G (p.Ile2517Met)
c.7554A>G (p.Ile2518Met)
n.4503A>G
n.5817A>G
c.8775A>G (p.Ile2925Met)
c.8154A>G (p.Ile2718Met)
c.8874A>G (p.Ile2958Met)
c.9372A>G (p.Ile3124Met)
c.6969A>G (p.Ile2323Met)
 gnomAD v4
2g.237325678T>GCA431674629COL6A3c.1756A>C
c.8757A>C (p.Ile2919=)
c.1502A>C
c.241A>C (n.241A>C)
c.9375A>C (p.Ile3125=)
c.7551A>C (p.Ile2517=)
c.7554A>C (p.Ile2518=)
n.4503A>C
n.5817A>C
c.8775A>C (p.Ile2925=)
c.8154A>C (p.Ile2718=)
c.8874A>C (p.Ile2958=)
c.9372A>C (p.Ile3124=)
c.6969A>C (p.Ile2323=)
2g.237325679A=CA1337602337COL6A3c.1755T=
c.8756T= (p.Ile2919=)
c.1501T=
c.240T= (n.240T=)
c.9374T= (p.Ile3125=)
c.7550T= (p.Ile2517=)
c.7553T= (p.Ile2518=)
n.4502T=
n.5816T=
c.8774T= (p.Ile2925=)
c.8153T= (p.Ile2718=)
c.8873T= (p.Ile2958=)
c.9371T= (p.Ile3124=)
c.6968T= (p.Ile2323=)
2g.237325679A>CCA351185596COL6A3c.1755T>G
c.8756T>G (p.Ile2919Arg)
c.1501T>G
c.240T>G (n.240T>G)
c.9374T>G (p.Ile3125Arg)
c.7550T>G (p.Ile2517Arg)
c.7553T>G (p.Ile2518Arg)
n.4502T>G
n.5816T>G
c.8774T>G (p.Ile2925Arg)
c.8153T>G (p.Ile2718Arg)
c.8873T>G (p.Ile2958Arg)
c.9371T>G (p.Ile3124Arg)
c.6968T>G (p.Ile2323Arg)
2g.237325679A>GCA351185594COL6A3c.1755T>C
c.8756T>C (p.Ile2919Thr)
c.1501T>C
c.240T>C (n.240T>C)
c.9374T>C (p.Ile3125Thr)
c.7550T>C (p.Ile2517Thr)
c.7553T>C (p.Ile2518Thr)
n.4502T>C
n.5816T>C
c.8774T>C (p.Ile2925Thr)
c.8153T>C (p.Ile2718Thr)
c.8873T>C (p.Ile2958Thr)
c.9371T>C (p.Ile3124Thr)
c.6968T>C (p.Ile2323Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237325679A>TCA351185592COL6A3c.1755T>A
c.8756T>A (p.Ile2919Lys)
c.1501T>A
c.240T>A (n.240T>A)
c.9374T>A (p.Ile3125Lys)
c.7550T>A (p.Ile2517Lys)
c.7553T>A (p.Ile2518Lys)
n.4502T>A
n.5816T>A
c.8774T>A (p.Ile2925Lys)
c.8153T>A (p.Ile2718Lys)
c.8873T>A (p.Ile2958Lys)
c.9371T>A (p.Ile3124Lys)
c.6968T>A (p.Ile2323Lys)
2g.237325680T>ACA351185598COL6A3c.1754A>T
c.8755A>T (p.Ile2919Leu)
c.1500A>T
c.239A>T (n.239A>T)
c.9373A>T (p.Ile3125Leu)
c.7549A>T (p.Ile2517Leu)
c.7552A>T (p.Ile2518Leu)
n.4501A>T
n.5815A>T
c.8773A>T (p.Ile2925Leu)
c.8152A>T (p.Ile2718Leu)
c.8872A>T (p.Ile2958Leu)
c.9370A>T (p.Ile3124Leu)
c.6967A>T (p.Ile2323Leu)
2g.237325680T>CCA351185599COL6A3c.1754A>G
c.8755A>G (p.Ile2919Val)
c.1500A>G
c.239A>G (n.239A>G)
c.9373A>G (p.Ile3125Val)
c.7549A>G (p.Ile2517Val)
c.7552A>G (p.Ile2518Val)
n.4501A>G
n.5815A>G
c.8773A>G (p.Ile2925Val)
c.8152A>G (p.Ile2718Val)
c.8872A>G (p.Ile2958Val)
c.9370A>G (p.Ile3124Val)
c.6967A>G (p.Ile2323Val)
 dbSNP
2g.237325680T>GCA351185601COL6A3c.1754A>C
c.8755A>C (p.Ile2919Leu)
c.1500A>C
c.239A>C (n.239A>C)
c.9373A>C (p.Ile3125Leu)
c.7549A>C (p.Ile2517Leu)
c.7552A>C (p.Ile2518Leu)
n.4501A>C
n.5815A>C
c.8773A>C (p.Ile2925Leu)
c.8152A>C (p.Ile2718Leu)
c.8872A>C (p.Ile2958Leu)
c.9370A>C (p.Ile3124Leu)
c.6967A>C (p.Ile2323Leu)
2g.237325680T=CA1337602338COL6A3c.1754A=
c.8755A= (p.Ile2919=)
c.1500A=
c.239A= (n.239A=)
c.9373A= (p.Ile3125=)
c.7549A= (p.Ile2517=)
c.7552A= (p.Ile2518=)
n.4501A=
n.5815A=
c.8773A= (p.Ile2925=)
c.8152A= (p.Ile2718=)
c.8872A= (p.Ile2958=)
c.9370A= (p.Ile3124=)
c.6967A= (p.Ile2323=)
2g.237325681G>ACA431674631COL6A3c.1753C>T
c.8754C>T (p.Phe2918=)
c.1499C>T
c.238C>T (n.238C>T)
c.9372C>T (p.Phe3124=)
c.7548C>T (p.Phe2516=)
c.7551C>T (p.Phe2517=)
n.4500C>T
n.5814C>T
c.8772C>T (p.Phe2924=)
c.8151C>T (p.Phe2717=)
c.8871C>T (p.Phe2957=)
c.9369C>T (p.Phe3123=)
c.6966C>T (p.Phe2322=)
2g.237325681G>CCA351185603COL6A3c.1753C>G
c.8754C>G (p.Phe2918Leu)
c.1499C>G
c.238C>G (n.238C>G)
c.9372C>G (p.Phe3124Leu)
c.7548C>G (p.Phe2516Leu)
c.7551C>G (p.Phe2517Leu)
n.4500C>G
n.5814C>G
c.8772C>G (p.Phe2924Leu)
c.8151C>G (p.Phe2717Leu)
c.8871C>G (p.Phe2957Leu)
c.9369C>G (p.Phe3123Leu)
c.6966C>G (p.Phe2322Leu)
2g.237325681G>TCA351185604COL6A3c.1753C>A
c.8754C>A (p.Phe2918Leu)
c.1499C>A
c.238C>A (n.238C>A)
c.9372C>A (p.Phe3124Leu)
c.7548C>A (p.Phe2516Leu)
c.7551C>A (p.Phe2517Leu)
n.4500C>A
n.5814C>A
c.8772C>A (p.Phe2924Leu)
c.8151C>A (p.Phe2717Leu)
c.8871C>A (p.Phe2957Leu)
c.9369C>A (p.Phe3123Leu)
c.6966C>A (p.Phe2322Leu)
2g.237325682A>CCA351185605COL6A3c.1752T>G
c.8753T>G (p.Phe2918Cys)
c.1498T>G
c.237T>G (n.237T>G)
c.9371T>G (p.Phe3124Cys)
c.7547T>G (p.Phe2516Cys)
c.7550T>G (p.Phe2517Cys)
n.4499T>G
n.5813T>G
c.8771T>G (p.Phe2924Cys)
c.8150T>G (p.Phe2717Cys)
c.8870T>G (p.Phe2957Cys)
c.9368T>G (p.Phe3123Cys)
c.6965T>G (p.Phe2322Cys)
2g.237325682A>GCA351185606COL6A3c.1752T>C
c.8753T>C (p.Phe2918Ser)
c.1498T>C
c.237T>C (n.237T>C)
c.9371T>C (p.Phe3124Ser)
c.7547T>C (p.Phe2516Ser)
c.7550T>C (p.Phe2517Ser)
n.4499T>C
n.5813T>C
c.8771T>C (p.Phe2924Ser)
c.8150T>C (p.Phe2717Ser)
c.8870T>C (p.Phe2957Ser)
c.9368T>C (p.Phe3123Ser)
c.6965T>C (p.Phe2322Ser)
2g.237325682A>TCA351185607COL6A3c.1752T>A
c.8753T>A (p.Phe2918Tyr)
c.1498T>A
c.237T>A (n.237T>A)
c.9371T>A (p.Phe3124Tyr)
c.7547T>A (p.Phe2516Tyr)
c.7550T>A (p.Phe2517Tyr)
n.4499T>A
n.5813T>A
c.8771T>A (p.Phe2924Tyr)
c.8150T>A (p.Phe2717Tyr)
c.8870T>A (p.Phe2957Tyr)
c.9368T>A (p.Phe3123Tyr)
c.6965T>A (p.Phe2322Tyr)
2g.237325683A>CCA351185610COL6A3c.1751T>G
c.8752T>G (p.Phe2918Val)
c.1497T>G
c.236T>G (n.236T>G)
c.9370T>G (p.Phe3124Val)
c.7546T>G (p.Phe2516Val)
c.7549T>G (p.Phe2517Val)
n.4498T>G
n.5812T>G
c.8770T>G (p.Phe2924Val)
c.8149T>G (p.Phe2717Val)
c.8869T>G (p.Phe2957Val)
c.9367T>G (p.Phe3123Val)
c.6964T>G (p.Phe2322Val)
2g.237325683A>GCA351185612COL6A3c.1751T>C
c.8752T>C (p.Phe2918Leu)
c.1497T>C
c.236T>C (n.236T>C)
c.9370T>C (p.Phe3124Leu)
c.7546T>C (p.Phe2516Leu)
c.7549T>C (p.Phe2517Leu)
n.4498T>C
n.5812T>C
c.8770T>C (p.Phe2924Leu)
c.8149T>C (p.Phe2717Leu)
c.8869T>C (p.Phe2957Leu)
c.9367T>C (p.Phe3123Leu)
c.6964T>C (p.Phe2322Leu)
2g.237325683A>TCA351185613COL6A3c.1751T>A
c.8752T>A (p.Phe2918Ile)
c.1497T>A
c.236T>A (n.236T>A)
c.9370T>A (p.Phe3124Ile)
c.7546T>A (p.Phe2516Ile)
c.7549T>A (p.Phe2517Ile)
n.4498T>A
n.5812T>A
c.8770T>A (p.Phe2924Ile)
c.8149T>A (p.Phe2717Ile)
c.8869T>A (p.Phe2957Ile)
c.9367T>A (p.Phe3123Ile)
c.6964T>A (p.Phe2322Ile)
2g.237325684A>CCA351185616COL6A3c.1750T>G
c.8751T>G (p.Asp2917Glu)
c.1496T>G
c.235T>G (n.235T>G)
c.9369T>G (p.Asp3123Glu)
c.7545T>G (p.Asp2515Glu)
c.7548T>G (p.Asp2516Glu)
n.4497T>G
n.5811T>G
c.8769T>G (p.Asp2923Glu)
c.8148T>G (p.Asp2716Glu)
c.8868T>G (p.Asp2956Glu)
c.9366T>G (p.Asp3122Glu)
c.6963T>G (p.Asp2321Glu)
2g.237325684A>GCA431674632COL6A3c.1750T>C
c.8751T>C (p.Asp2917=)
c.1496T>C
c.235T>C (n.235T>C)
c.9369T>C (p.Asp3123=)
c.7545T>C (p.Asp2515=)
c.7548T>C (p.Asp2516=)
n.4497T>C
n.5811T>C
c.8769T>C (p.Asp2923=)
c.8148T>C (p.Asp2716=)
c.8868T>C (p.Asp2956=)
c.9366T>C (p.Asp3122=)
c.6963T>C (p.Asp2321=)
2g.237325684A>TCA351185617COL6A3c.1750T>A
c.8751T>A (p.Asp2917Glu)
c.1496T>A
c.235T>A (n.235T>A)
c.9369T>A (p.Asp3123Glu)
c.7545T>A (p.Asp2515Glu)
c.7548T>A (p.Asp2516Glu)
n.4497T>A
n.5811T>A
c.8769T>A (p.Asp2923Glu)
c.8148T>A (p.Asp2716Glu)
c.8868T>A (p.Asp2956Glu)
c.9366T>A (p.Asp3122Glu)
c.6963T>A (p.Asp2321Glu)
2g.237325685T>ACA351185619COL6A3c.1749A>T
c.8750A>T (p.Asp2917Val)
c.1495A>T
c.234A>T (n.234A>T)
c.9368A>T (p.Asp3123Val)
c.7544A>T (p.Asp2515Val)
c.7547A>T (p.Asp2516Val)
n.4496A>T
n.5810A>T
c.8768A>T (p.Asp2923Val)
c.8147A>T (p.Asp2716Val)
c.8867A>T (p.Asp2956Val)
c.9365A>T (p.Asp3122Val)
c.6962A>T (p.Asp2321Val)
2g.237325685T>CCA351185622COL6A3c.1749A>G
c.8750A>G (p.Asp2917Gly)
c.1495A>G
c.234A>G (n.234A>G)
c.9368A>G (p.Asp3123Gly)
c.7544A>G (p.Asp2515Gly)
c.7547A>G (p.Asp2516Gly)
n.4496A>G
n.5810A>G
c.8768A>G (p.Asp2923Gly)
c.8147A>G (p.Asp2716Gly)
c.8867A>G (p.Asp2956Gly)
c.9365A>G (p.Asp3122Gly)
c.6962A>G (p.Asp2321Gly)
2g.237325685T>GCA351185620COL6A3c.1749A>C
c.8750A>C (p.Asp2917Ala)
c.1495A>C
c.234A>C (n.234A>C)
c.9368A>C (p.Asp3123Ala)
c.7544A>C (p.Asp2515Ala)
c.7547A>C (p.Asp2516Ala)
n.4496A>C
n.5810A>C
c.8768A>C (p.Asp2923Ala)
c.8147A>C (p.Asp2716Ala)
c.8867A>C (p.Asp2956Ala)
c.9365A>C (p.Asp3122Ala)
c.6962A>C (p.Asp2321Ala)
2g.237325686C>ACA351185624COL6A3c.1748G>T
c.8749G>T (p.Asp2917Tyr)
c.1494G>T
c.233G>T (n.233G>T)
c.9367G>T (p.Asp3123Tyr)
c.7543G>T (p.Asp2515Tyr)
c.7546G>T (p.Asp2516Tyr)
n.4495G>T
n.5809G>T
c.8767G>T (p.Asp2923Tyr)
c.8146G>T (p.Asp2716Tyr)
c.8866G>T (p.Asp2956Tyr)
c.9364G>T (p.Asp3122Tyr)
c.6961G>T (p.Asp2321Tyr)
2g.237325686C>GCA351185626COL6A3c.1748G>C
c.8749G>C (p.Asp2917His)
c.1494G>C
c.233G>C (n.233G>C)
c.9367G>C (p.Asp3123His)
c.7543G>C (p.Asp2515His)
c.7546G>C (p.Asp2516His)
n.4495G>C
n.5809G>C
c.8767G>C (p.Asp2923His)
c.8146G>C (p.Asp2716His)
c.8866G>C (p.Asp2956His)
c.9364G>C (p.Asp3122His)
c.6961G>C (p.Asp2321His)
2g.237325686C>TCA351185628COL6A3c.1748G>A
c.8749G>A (p.Asp2917Asn)
c.1494G>A
c.233G>A (n.233G>A)
c.9367G>A (p.Asp3123Asn)
c.7543G>A (p.Asp2515Asn)
c.7546G>A (p.Asp2516Asn)
n.4495G>A
n.5809G>A
c.8767G>A (p.Asp2923Asn)
c.8146G>A (p.Asp2716Asn)
c.8866G>A (p.Asp2956Asn)
c.9364G>A (p.Asp3122Asn)
c.6961G>A (p.Asp2321Asn)
 gnomAD v4 COSMIC
2g.237325687C>ACA351185630COL6A3c.1747G>T
c.8748G>T (p.Arg2916Ser)
c.1493G>T
c.232G>T (n.232G>T)
c.9366G>T (p.Arg3122Ser)
c.7542G>T (p.Arg2514Ser)
c.7545G>T (p.Arg2515Ser)
n.4494G>T
n.5808G>T
c.8766G>T (p.Arg2922Ser)
c.8145G>T (p.Arg2715Ser)
c.8865G>T (p.Arg2955Ser)
c.9363G>T (p.Arg3121Ser)
c.6960G>T (p.Arg2320Ser)
2g.237325687C=CA1337602339COL6A3c.1747G=
c.8748G= (p.Arg2916=)
c.1493G=
c.232G= (n.232G=)
c.9366G= (p.Arg3122=)
c.7542G= (p.Arg2514=)
c.7545G= (p.Arg2515=)
n.4494G=
n.5808G=
c.8766G= (p.Arg2922=)
c.8145G= (p.Arg2715=)
c.8865G= (p.Arg2955=)
c.9363G= (p.Arg3121=)
c.6960G= (p.Arg2320=)
2g.237325687C>GCA351185632COL6A3c.1747G>C
c.8748G>C (p.Arg2916Ser)
c.1493G>C
c.232G>C (n.232G>C)
c.9366G>C (p.Arg3122Ser)
c.7542G>C (p.Arg2514Ser)
c.7545G>C (p.Arg2515Ser)
n.4494G>C
n.5808G>C
c.8766G>C (p.Arg2922Ser)
c.8145G>C (p.Arg2715Ser)
c.8865G>C (p.Arg2955Ser)
c.9363G>C (p.Arg3121Ser)
c.6960G>C (p.Arg2320Ser)
2g.237325687C>TCA2187282COL6A3c.1747G>A
c.8748G>A (p.Arg2916=)
c.1493G>A
c.232G>A (n.232G>A)
c.9366G>A (p.Arg3122=)
c.7542G>A (p.Arg2514=)
c.7545G>A (p.Arg2515=)
n.4494G>A
n.5808G>A
c.8766G>A (p.Arg2922=)
c.8145G>A (p.Arg2715=)
c.8865G>A (p.Arg2955=)
c.9363G>A (p.Arg3121=)
c.6960G>A (p.Arg2320=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237325688C>ACA351185635COL6A3c.1746G>T
c.8747G>T (p.Arg2916Met)
c.1492G>T
c.231G>T (n.231G>T)
c.9365G>T (p.Arg3122Met)
c.7541G>T (p.Arg2514Met)
c.7544G>T (p.Arg2515Met)
n.4493G>T
n.5807G>T
c.8765G>T (p.Arg2922Met)
c.8144G>T (p.Arg2715Met)
c.8864G>T (p.Arg2955Met)
c.9362G>T (p.Arg3121Met)
c.6959G>T (p.Arg2320Met)
2g.237325688C>GCA351185637COL6A3c.1746G>C
c.8747G>C (p.Arg2916Thr)
c.1492G>C
c.231G>C (n.231G>C)
c.9365G>C (p.Arg3122Thr)
c.7541G>C (p.Arg2514Thr)
c.7544G>C (p.Arg2515Thr)
n.4493G>C
n.5807G>C
c.8765G>C (p.Arg2922Thr)
c.8144G>C (p.Arg2715Thr)
c.8864G>C (p.Arg2955Thr)
c.9362G>C (p.Arg3121Thr)
c.6959G>C (p.Arg2320Thr)
2g.237325688C>TCA351185638COL6A3c.1746G>A
c.8747G>A (p.Arg2916Lys)
c.1492G>A
c.231G>A (n.231G>A)
c.9365G>A (p.Arg3122Lys)
c.7541G>A (p.Arg2514Lys)
c.7544G>A (p.Arg2515Lys)
n.4493G>A
n.5807G>A
c.8765G>A (p.Arg2922Lys)
c.8144G>A (p.Arg2715Lys)
c.8864G>A (p.Arg2955Lys)
c.9362G>A (p.Arg3121Lys)
c.6959G>A (p.Arg2320Lys)
 gnomAD v4
2g.237325689T>ACA351185639COL6A3c.1745A>T
c.8746A>T (p.Arg2916Trp)
c.1491A>T
c.230A>T (n.230A>T)
c.9364A>T (p.Arg3122Trp)
c.7540A>T (p.Arg2514Trp)
c.7543A>T (p.Arg2515Trp)
n.4492A>T
n.5806A>T
c.8764A>T (p.Arg2922Trp)
c.8143A>T (p.Arg2715Trp)
c.8863A>T (p.Arg2955Trp)
c.9361A>T (p.Arg3121Trp)
c.6958A>T (p.Arg2320Trp)
2g.237325689T>CCA351185641COL6A3c.1745A>G
c.8746A>G (p.Arg2916Gly)
c.1491A>G
c.230A>G (n.230A>G)
c.9364A>G (p.Arg3122Gly)
c.7540A>G (p.Arg2514Gly)
c.7543A>G (p.Arg2515Gly)
n.4492A>G
n.5806A>G
c.8764A>G (p.Arg2922Gly)
c.8143A>G (p.Arg2715Gly)
c.8863A>G (p.Arg2955Gly)
c.9361A>G (p.Arg3121Gly)
c.6958A>G (p.Arg2320Gly)
2g.237325689T>GCA431674633COL6A3c.1745A>C
c.8746A>C (p.Arg2916=)
c.1491A>C
c.230A>C (n.230A>C)
c.9364A>C (p.Arg3122=)
c.7540A>C (p.Arg2514=)
c.7543A>C (p.Arg2515=)
n.4492A>C
n.5806A>C
c.8764A>C (p.Arg2922=)
c.8143A>C (p.Arg2715=)
c.8863A>C (p.Arg2955=)
c.9361A>C (p.Arg3121=)
c.6958A>C (p.Arg2320=)
 COSMIC
2g.237325690G>ACA431674634COL6A3c.1744C>T
c.8745C>T (p.Cys2915=)
c.1490C>T
c.229C>T (n.229C>T)
c.9363C>T (p.Cys3121=)
c.7539C>T (p.Cys2513=)
c.7542C>T (p.Cys2514=)
n.4491C>T
n.5805C>T
c.8763C>T (p.Cys2921=)
c.8142C>T (p.Cys2714=)
c.8862C>T (p.Cys2954=)
c.9360C>T (p.Cys3120=)
c.6957C>T (p.Cys2319=)
2g.237325690G>CCA351185645COL6A3c.1744C>G
c.8745C>G (p.Cys2915Trp)
c.1490C>G
c.229C>G (n.229C>G)
c.9363C>G (p.Cys3121Trp)
c.7539C>G (p.Cys2513Trp)
c.7542C>G (p.Cys2514Trp)
n.4491C>G
n.5805C>G
c.8763C>G (p.Cys2921Trp)
c.8142C>G (p.Cys2714Trp)
c.8862C>G (p.Cys2954Trp)
c.9360C>G (p.Cys3120Trp)
c.6957C>G (p.Cys2319Trp)
2g.237325690G>TCA351185643COL6A3c.1744C>A
c.8745C>A (p.Cys2915Ter)
c.1490C>A
c.229C>A (n.229C>A)
c.9363C>A (p.Cys3121Ter)
c.7539C>A (p.Cys2513Ter)
c.7542C>A (p.Cys2514Ter)
n.4491C>A
n.5805C>A
c.8763C>A (p.Cys2921Ter)
c.8142C>A (p.Cys2714Ter)
c.8862C>A (p.Cys2954Ter)
c.9360C>A (p.Cys3120Ter)
c.6957C>A (p.Cys2319Ter)
2g.237325691C>ACA351185647COL6A3c.1743G>T
c.8744G>T (p.Cys2915Phe)
c.1489G>T
c.228G>T (n.228G>T)
c.9362G>T (p.Cys3121Phe)
c.7538G>T (p.Cys2513Phe)
c.7541G>T (p.Cys2514Phe)
n.4490G>T
n.5804G>T
c.8762G>T (p.Cys2921Phe)
c.8141G>T (p.Cys2714Phe)
c.8861G>T (p.Cys2954Phe)
c.9359G>T (p.Cys3120Phe)
c.6956G>T (p.Cys2319Phe)
2g.237325691C>GCA351185651COL6A3c.1743G>C
c.8744G>C (p.Cys2915Ser)
c.1489G>C
c.228G>C (n.228G>C)
c.9362G>C (p.Cys3121Ser)
c.7538G>C (p.Cys2513Ser)
c.7541G>C (p.Cys2514Ser)
n.4490G>C
n.5804G>C
c.8762G>C (p.Cys2921Ser)
c.8141G>C (p.Cys2714Ser)
c.8861G>C (p.Cys2954Ser)
c.9359G>C (p.Cys3120Ser)
c.6956G>C (p.Cys2319Ser)
2g.237325691C>TCA351185649COL6A3c.1743G>A
c.8744G>A (p.Cys2915Tyr)
c.1489G>A
c.228G>A (n.228G>A)
c.9362G>A (p.Cys3121Tyr)
c.7538G>A (p.Cys2513Tyr)
c.7541G>A (p.Cys2514Tyr)
n.4490G>A
n.5804G>A
c.8762G>A (p.Cys2921Tyr)
c.8141G>A (p.Cys2714Tyr)
c.8861G>A (p.Cys2954Tyr)
c.9359G>A (p.Cys3120Tyr)
c.6956G>A (p.Cys2319Tyr)
2g.237325692A>CCA351185653COL6A3c.1742T>G
c.8743T>G (p.Cys2915Gly)
c.1488T>G
c.227T>G (n.227T>G)
c.9361T>G (p.Cys3121Gly)
c.7537T>G (p.Cys2513Gly)
c.7540T>G (p.Cys2514Gly)
n.4489T>G
n.5803T>G
c.8761T>G (p.Cys2921Gly)
c.8140T>G (p.Cys2714Gly)
c.8860T>G (p.Cys2954Gly)
c.9358T>G (p.Cys3120Gly)
c.6955T>G (p.Cys2319Gly)
2g.237325692A>GCA351185655COL6A3c.1742T>C
c.8743T>C (p.Cys2915Arg)
c.1488T>C
c.227T>C (n.227T>C)
c.9361T>C (p.Cys3121Arg)
c.7537T>C (p.Cys2513Arg)
c.7540T>C (p.Cys2514Arg)
n.4489T>C
n.5803T>C
c.8761T>C (p.Cys2921Arg)
c.8140T>C (p.Cys2714Arg)
c.8860T>C (p.Cys2954Arg)
c.9358T>C (p.Cys3120Arg)
c.6955T>C (p.Cys2319Arg)
2g.237325692A>TCA351185656COL6A3c.1742T>A
c.8743T>A (p.Cys2915Ser)
c.1488T>A
c.227T>A (n.227T>A)
c.9361T>A (p.Cys3121Ser)
c.7537T>A (p.Cys2513Ser)
c.7540T>A (p.Cys2514Ser)
n.4489T>A
n.5803T>A
c.8761T>A (p.Cys2921Ser)
c.8140T>A (p.Cys2714Ser)
c.8860T>A (p.Cys2954Ser)
c.9358T>A (p.Cys3120Ser)
c.6955T>A (p.Cys2319Ser)
2g.237325693A=CA1337602340COL6A3c.1741T=
c.8742T= (p.Thr2914=)
c.1487T=
c.226T= (n.226T=)
c.9360T= (p.Thr3120=)
c.7536T= (p.Thr2512=)
c.7539T= (p.Thr2513=)
n.4488T=
n.5802T=
c.8760T= (p.Thr2920=)
c.8139T= (p.Thr2713=)
c.8859T= (p.Thr2953=)
c.9357T= (p.Thr3119=)
c.6954T= (p.Thr2318=)
2g.237325693A>CCA431674635COL6A3c.1741T>G
c.8742T>G (p.Thr2914=)
c.1487T>G
c.226T>G (n.226T>G)
c.9360T>G (p.Thr3120=)
c.7536T>G (p.Thr2512=)
c.7539T>G (p.Thr2513=)
n.4488T>G
n.5802T>G
c.8760T>G (p.Thr2920=)
c.8139T>G (p.Thr2713=)
c.8859T>G (p.Thr2953=)
c.9357T>G (p.Thr3119=)
c.6954T>G (p.Thr2318=)
2g.237325693A>GCA431674636COL6A3c.1741T>C
c.8742T>C (p.Thr2914=)
c.1487T>C
c.226T>C (n.226T>C)
c.9360T>C (p.Thr3120=)
c.7536T>C (p.Thr2512=)
c.7539T>C (p.Thr2513=)
n.4488T>C
n.5802T>C
c.8760T>C (p.Thr2920=)
c.8139T>C (p.Thr2713=)
c.8859T>C (p.Thr2953=)
c.9357T>C (p.Thr3119=)
c.6954T>C (p.Thr2318=)
 dbSNP
2g.237325693A>TCA431674637COL6A3c.1741T>A
c.8742T>A (p.Thr2914=)
c.1487T>A
c.226T>A (n.226T>A)
c.9360T>A (p.Thr3120=)
c.7536T>A (p.Thr2512=)
c.7539T>A (p.Thr2513=)
n.4488T>A
n.5802T>A
c.8760T>A (p.Thr2920=)
c.8139T>A (p.Thr2713=)
c.8859T>A (p.Thr2953=)
c.9357T>A (p.Thr3119=)
c.6954T>A (p.Thr2318=)
2g.237325694G>ACA351185659COL6A3c.1740C>T
c.8741C>T (p.Thr2914Ile)
c.1486C>T
c.225C>T (n.225C>T)
c.9359C>T (p.Thr3120Ile)
c.7535C>T (p.Thr2512Ile)
c.7538C>T (p.Thr2513Ile)
n.4487C>T
n.5801C>T
c.8759C>T (p.Thr2920Ile)
c.8138C>T (p.Thr2713Ile)
c.8858C>T (p.Thr2953Ile)
c.9356C>T (p.Thr3119Ile)
c.6953C>T (p.Thr2318Ile)
2g.237325694G>CCA351185661COL6A3c.1740C>G
c.8741C>G (p.Thr2914Ser)
c.1486C>G
c.225C>G (n.225C>G)
c.9359C>G (p.Thr3120Ser)
c.7535C>G (p.Thr2512Ser)
c.7538C>G (p.Thr2513Ser)
n.4487C>G
n.5801C>G
c.8759C>G (p.Thr2920Ser)
c.8138C>G (p.Thr2713Ser)
c.8858C>G (p.Thr2953Ser)
c.9356C>G (p.Thr3119Ser)
c.6953C>G (p.Thr2318Ser)
2g.237325694G=CA1337602341COL6A3c.1740C=
c.8741C= (p.Thr2914=)
c.1486C=
c.225C= (n.225C=)
c.9359C= (p.Thr3120=)
c.7535C= (p.Thr2512=)
c.7538C= (p.Thr2513=)
n.4487C=
n.5801C=
c.8759C= (p.Thr2920=)
c.8138C= (p.Thr2713=)
c.8858C= (p.Thr2953=)
c.9356C= (p.Thr3119=)
c.6953C= (p.Thr2318=)
2g.237325694G>TCA2187283COL6A3c.1740C>A
c.8741C>A (p.Thr2914Asn)
c.1486C>A
c.225C>A (n.225C>A)
c.9359C>A (p.Thr3120Asn)
c.7535C>A (p.Thr2512Asn)
c.7538C>A (p.Thr2513Asn)
n.4487C>A
n.5801C>A
c.8759C>A (p.Thr2920Asn)
c.8138C>A (p.Thr2713Asn)
c.8858C>A (p.Thr2953Asn)
c.9356C>A (p.Thr3119Asn)
c.6953C>A (p.Thr2318Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237325695T>ACA351185664COL6A3c.1739A>T
c.8740A>T (p.Thr2914Ser)
c.1485A>T
c.224A>T (n.224A>T)
c.9358A>T (p.Thr3120Ser)
c.7534A>T (p.Thr2512Ser)
c.7537A>T (p.Thr2513Ser)
n.4486A>T
n.5800A>T
c.8758A>T (p.Thr2920Ser)
c.8137A>T (p.Thr2713Ser)
c.8857A>T (p.Thr2953Ser)
c.9355A>T (p.Thr3119Ser)
c.6952A>T (p.Thr2318Ser)
2g.237325695T>CCA351185666COL6A3c.1739A>G
c.8740A>G (p.Thr2914Ala)
c.1485A>G
c.224A>G (n.224A>G)
c.9358A>G (p.Thr3120Ala)
c.7534A>G (p.Thr2512Ala)
c.7537A>G (p.Thr2513Ala)
n.4486A>G
n.5800A>G
c.8758A>G (p.Thr2920Ala)
c.8137A>G (p.Thr2713Ala)
c.8857A>G (p.Thr2953Ala)
c.9355A>G (p.Thr3119Ala)
c.6952A>G (p.Thr2318Ala)
 ClinVar
2g.237325695T>GCA2187284COL6A3c.1739A>C
c.8740A>C (p.Thr2914Pro)
c.1485A>C
c.224A>C (n.224A>C)
c.9358A>C (p.Thr3120Pro)
c.7534A>C (p.Thr2512Pro)
c.7537A>C (p.Thr2513Pro)
n.4486A>C
n.5800A>C
c.8758A>C (p.Thr2920Pro)
c.8137A>C (p.Thr2713Pro)
c.8857A>C (p.Thr2953Pro)
c.9355A>C (p.Thr3119Pro)
c.6952A>C (p.Thr2318Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325695T=CA1337602342COL6A3c.1739A=
c.8740A= (p.Thr2914=)
c.1485A=
c.224A= (n.224A=)
c.9358A= (p.Thr3120=)
c.7534A= (p.Thr2512=)
c.7537A= (p.Thr2513=)
n.4486A=
n.5800A=
c.8758A= (p.Thr2920=)
c.8137A= (p.Thr2713=)
c.8857A= (p.Thr2953=)
c.9355A= (p.Thr3119=)
c.6952A= (p.Thr2318=)
2g.237325696T>ACA431674638COL6A3c.1738A>T
c.8739A>T (p.Gly2913=)
c.1484A>T
c.223A>T (n.223A>T)
c.9357A>T (p.Gly3119=)
c.7533A>T (p.Gly2511=)
c.7536A>T (p.Gly2512=)
n.4485A>T
n.5799A>T
c.8757A>T (p.Gly2919=)
c.8136A>T (p.Gly2712=)
c.8856A>T (p.Gly2952=)
c.9354A>T (p.Gly3118=)
c.6951A>T (p.Gly2317=)
2g.237325696T>CCA431674639COL6A3c.1738A>G
c.8739A>G (p.Gly2913=)
c.1484A>G
c.223A>G (n.223A>G)
c.9357A>G (p.Gly3119=)
c.7533A>G (p.Gly2511=)
c.7536A>G (p.Gly2512=)
n.4485A>G
n.5799A>G
c.8757A>G (p.Gly2919=)
c.8136A>G (p.Gly2712=)
c.8856A>G (p.Gly2952=)
c.9354A>G (p.Gly3118=)
c.6951A>G (p.Gly2317=)
2g.237325696T>GCA431674640COL6A3c.1738A>C
c.8739A>C (p.Gly2913=)
c.1484A>C
c.223A>C (n.223A>C)
c.9357A>C (p.Gly3119=)
c.7533A>C (p.Gly2511=)
c.7536A>C (p.Gly2512=)
n.4485A>C
n.5799A>C
c.8757A>C (p.Gly2919=)
c.8136A>C (p.Gly2712=)
c.8856A>C (p.Gly2952=)
c.9354A>C (p.Gly3118=)
c.6951A>C (p.Gly2317=)
 gnomAD v4
2g.237325697C>ACA351185668COL6A3c.1737G>T
c.8738G>T (p.Gly2913Val)
c.1483G>T
c.222G>T (n.222G>T)
c.9356G>T (p.Gly3119Val)
c.7532G>T (p.Gly2511Val)
c.7535G>T (p.Gly2512Val)
n.4484G>T
n.5798G>T
c.8756G>T (p.Gly2919Val)
c.8135G>T (p.Gly2712Val)
c.8855G>T (p.Gly2952Val)
c.9353G>T (p.Gly3118Val)
c.6950G>T (p.Gly2317Val)
2g.237325697C>GCA351185670COL6A3c.1737G>C
c.8738G>C (p.Gly2913Ala)
c.1483G>C
c.222G>C (n.222G>C)
c.9356G>C (p.Gly3119Ala)
c.7532G>C (p.Gly2511Ala)
c.7535G>C (p.Gly2512Ala)
n.4484G>C
n.5798G>C
c.8756G>C (p.Gly2919Ala)
c.8135G>C (p.Gly2712Ala)
c.8855G>C (p.Gly2952Ala)
c.9353G>C (p.Gly3118Ala)
c.6950G>C (p.Gly2317Ala)
2g.237325697C>TCA351185672COL6A3c.1737G>A
c.8738G>A (p.Gly2913Glu)
c.1483G>A
c.222G>A (n.222G>A)
c.9356G>A (p.Gly3119Glu)
c.7532G>A (p.Gly2511Glu)
c.7535G>A (p.Gly2512Glu)
n.4484G>A
n.5798G>A
c.8756G>A (p.Gly2919Glu)
c.8135G>A (p.Gly2712Glu)
c.8855G>A (p.Gly2952Glu)
c.9353G>A (p.Gly3118Glu)
c.6950G>A (p.Gly2317Glu)
2g.237325698C>ACA351185677COL6A3c.1736G>T
c.8737G>T (p.Gly2913Ter)
c.1482G>T
c.221G>T (n.221G>T)
c.9355G>T (p.Gly3119Ter)
c.7531G>T (p.Gly2511Ter)
c.7534G>T (p.Gly2512Ter)
n.4483G>T
n.5797G>T
c.8755G>T (p.Gly2919Ter)
c.8134G>T (p.Gly2712Ter)
c.8854G>T (p.Gly2952Ter)
c.9352G>T (p.Gly3118Ter)
c.6949G>T (p.Gly2317Ter)
2g.237325698C>GCA351185674COL6A3c.1736G>C
c.8737G>C (p.Gly2913Arg)
c.1482G>C
c.221G>C (n.221G>C)
c.9355G>C (p.Gly3119Arg)
c.7531G>C (p.Gly2511Arg)
c.7534G>C (p.Gly2512Arg)
n.4483G>C
n.5797G>C
c.8755G>C (p.Gly2919Arg)
c.8134G>C (p.Gly2712Arg)
c.8854G>C (p.Gly2952Arg)
c.9352G>C (p.Gly3118Arg)
c.6949G>C (p.Gly2317Arg)
2g.237325698C>TCA351185676COL6A3c.1736G>A
c.8737G>A (p.Gly2913Arg)
c.1482G>A
c.221G>A (n.221G>A)
c.9355G>A (p.Gly3119Arg)
c.7531G>A (p.Gly2511Arg)
c.7534G>A (p.Gly2512Arg)
n.4483G>A
n.5797G>A
c.8755G>A (p.Gly2919Arg)
c.8134G>A (p.Gly2712Arg)
c.8854G>A (p.Gly2952Arg)
c.9352G>A (p.Gly3118Arg)
c.6949G>A (p.Gly2317Arg)
2g.237325699T>ACA351185971COL6A3c.1735A>T
c.8736A>T (p.Glu2912Asp)
c.1481A>T
c.220A>T (n.220A>T)
c.9354A>T (p.Glu3118Asp)
c.7530A>T (p.Glu2510Asp)
c.7533A>T (p.Glu2511Asp)
n.4482A>T
n.5796A>T
c.8754A>T (p.Glu2918Asp)
c.8133A>T (p.Glu2711Asp)
c.8853A>T (p.Glu2951Asp)
c.9351A>T (p.Glu3117Asp)
c.6948A>T (p.Glu2316Asp)
2g.237325699T>CCA431674651COL6A3c.1735A>G
c.8736A>G (p.Glu2912=)
c.1481A>G
c.220A>G (n.220A>G)
c.9354A>G (p.Glu3118=)
c.7530A>G (p.Glu2510=)
c.7533A>G (p.Glu2511=)
n.4482A>G
n.5796A>G
c.8754A>G (p.Glu2918=)
c.8133A>G (p.Glu2711=)
c.8853A>G (p.Glu2951=)
c.9351A>G (p.Glu3117=)
c.6948A>G (p.Glu2316=)
2g.237325699T>GCA351185973COL6A3c.1735A>C
c.8736A>C (p.Glu2912Asp)
c.1481A>C
c.220A>C (n.220A>C)
c.9354A>C (p.Glu3118Asp)
c.7530A>C (p.Glu2510Asp)
c.7533A>C (p.Glu2511Asp)
n.4482A>C
n.5796A>C
c.8754A>C (p.Glu2918Asp)
c.8133A>C (p.Glu2711Asp)
c.8853A>C (p.Glu2951Asp)
c.9351A>C (p.Glu3117Asp)
c.6948A>C (p.Glu2316Asp)
2g.237325700T>ACA351185975COL6A3c.1734A>T
c.8735A>T (p.Glu2912Val)
c.1480A>T
c.219A>T (n.219A>T)
c.9353A>T (p.Glu3118Val)
c.7529A>T (p.Glu2510Val)
c.7532A>T (p.Glu2511Val)
n.4481A>T
n.5795A>T
c.8753A>T (p.Glu2918Val)
c.8132A>T (p.Glu2711Val)
c.8852A>T (p.Glu2951Val)
c.9350A>T (p.Glu3117Val)
c.6947A>T (p.Glu2316Val)
2g.237325700T>CCA351185978COL6A3c.1734A>G
c.8735A>G (p.Glu2912Gly)
c.1480A>G
c.219A>G (n.219A>G)
c.9353A>G (p.Glu3118Gly)
c.7529A>G (p.Glu2510Gly)
c.7532A>G (p.Glu2511Gly)
n.4481A>G
n.5795A>G
c.8753A>G (p.Glu2918Gly)
c.8132A>G (p.Glu2711Gly)
c.8852A>G (p.Glu2951Gly)
c.9350A>G (p.Glu3117Gly)
c.6947A>G (p.Glu2316Gly)
2g.237325700T>GCA351185980COL6A3c.1734A>C
c.8735A>C (p.Glu2912Ala)
c.1480A>C
c.219A>C (n.219A>C)
c.9353A>C (p.Glu3118Ala)
c.7529A>C (p.Glu2510Ala)
c.7532A>C (p.Glu2511Ala)
n.4481A>C
n.5795A>C
c.8753A>C (p.Glu2918Ala)
c.8132A>C (p.Glu2711Ala)
c.8852A>C (p.Glu2951Ala)
c.9350A>C (p.Glu3117Ala)
c.6947A>C (p.Glu2316Ala)
2g.237325701C>ACA351185982COL6A3c.1733G>T
c.8734G>T (p.Glu2912Ter)
c.1479G>T
c.218G>T (n.218G>T)
c.9352G>T (p.Glu3118Ter)
c.7528G>T (p.Glu2510Ter)
c.7531G>T (p.Glu2511Ter)
n.4480G>T
n.5794G>T
c.8752G>T (p.Glu2918Ter)
c.8131G>T (p.Glu2711Ter)
c.8851G>T (p.Glu2951Ter)
c.9349G>T (p.Glu3117Ter)
c.6946G>T (p.Glu2316Ter)
2g.237325701C=CA1337602343COL6A3c.1733G=
c.8734G= (p.Glu2912=)
c.1479G=
c.218G= (n.218G=)
c.9352G= (p.Glu3118=)
c.7528G= (p.Glu2510=)
c.7531G= (p.Glu2511=)
n.4480G=
n.5794G=
c.8752G= (p.Glu2918=)
c.8131G= (p.Glu2711=)
c.8851G= (p.Glu2951=)
c.9349G= (p.Glu3117=)
c.6946G= (p.Glu2316=)
2g.237325701C>GCA351185984COL6A3c.1733G>C
c.8734G>C (p.Glu2912Gln)
c.1479G>C
c.218G>C (n.218G>C)
c.9352G>C (p.Glu3118Gln)
c.7528G>C (p.Glu2510Gln)
c.7531G>C (p.Glu2511Gln)
n.4480G>C
n.5794G>C
c.8752G>C (p.Glu2918Gln)
c.8131G>C (p.Glu2711Gln)
c.8851G>C (p.Glu2951Gln)
c.9349G>C (p.Glu3117Gln)
c.6946G>C (p.Glu2316Gln)
2g.237325701C>TCA2187285COL6A3c.1733G>A
c.8734G>A (p.Glu2912Lys)
c.1479G>A
c.218G>A (n.218G>A)
c.9352G>A (p.Glu3118Lys)
c.7528G>A (p.Glu2510Lys)
c.7531G>A (p.Glu2511Lys)
n.4480G>A
n.5794G>A
c.8752G>A (p.Glu2918Lys)
c.8131G>A (p.Glu2711Lys)
c.8851G>A (p.Glu2951Lys)
c.9349G>A (p.Glu3117Lys)
c.6946G>A (p.Glu2316Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.237325702G>ACA245663COL6A3c.1732C>T
c.8733C>T (p.Asp2911=)
c.1478C>T
c.217C>T (n.217C>T)
c.9351C>T (p.Asp3117=)
c.7527C>T (p.Asp2509=)
c.7530C>T (p.Asp2510=)
n.4479C>T
n.5793C>T
c.8751C>T (p.Asp2917=)
c.8130C>T (p.Asp2710=)
c.8850C>T (p.Asp2950=)
c.9348C>T (p.Asp3116=)
c.6945C>T (p.Asp2315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325702G>CCA351185987COL6A3c.1732C>G
c.8733C>G (p.Asp2911Glu)
c.1478C>G
c.217C>G (n.217C>G)
c.9351C>G (p.Asp3117Glu)
c.7527C>G (p.Asp2509Glu)
c.7530C>G (p.Asp2510Glu)
n.4479C>G
n.5793C>G
c.8751C>G (p.Asp2917Glu)
c.8130C>G (p.Asp2710Glu)
c.8850C>G (p.Asp2950Glu)
c.9348C>G (p.Asp3116Glu)
c.6945C>G (p.Asp2315Glu)
2g.237325702G=CA1337602344COL6A3c.1732C=
c.8733C= (p.Asp2911=)
c.1478C=
c.217C= (n.217C=)
c.9351C= (p.Asp3117=)
c.7527C= (p.Asp2509=)
c.7530C= (p.Asp2510=)
n.4479C=
n.5793C=
c.8751C= (p.Asp2917=)
c.8130C= (p.Asp2710=)
c.8850C= (p.Asp2950=)
c.9348C= (p.Asp3116=)
c.6945C= (p.Asp2315=)
2g.237325702G>TCA351185989COL6A3c.1732C>A
c.8733C>A (p.Asp2911Glu)
c.1478C>A
c.217C>A (n.217C>A)
c.9351C>A (p.Asp3117Glu)
c.7527C>A (p.Asp2509Glu)
c.7530C>A (p.Asp2510Glu)
n.4479C>A
n.5793C>A
c.8751C>A (p.Asp2917Glu)
c.8130C>A (p.Asp2710Glu)
c.8850C>A (p.Asp2950Glu)
c.9348C>A (p.Asp3116Glu)
c.6945C>A (p.Asp2315Glu)
2g.237325703T>ACA351185995COL6A3c.1731A>T
c.8732A>T (p.Asp2911Val)
c.1477A>T
c.216A>T (n.216A>T)
c.9350A>T (p.Asp3117Val)
c.7526A>T (p.Asp2509Val)
c.7529A>T (p.Asp2510Val)
n.4478A>T
n.5792A>T
c.8750A>T (p.Asp2917Val)
c.8129A>T (p.Asp2710Val)
c.8849A>T (p.Asp2950Val)
c.9347A>T (p.Asp3116Val)
c.6944A>T (p.Asp2315Val)
2g.237325703T>CCA351185993COL6A3c.1731A>G
c.8732A>G (p.Asp2911Gly)
c.1477A>G
c.216A>G (n.216A>G)
c.9350A>G (p.Asp3117Gly)
c.7526A>G (p.Asp2509Gly)
c.7529A>G (p.Asp2510Gly)
n.4478A>G
n.5792A>G
c.8750A>G (p.Asp2917Gly)
c.8129A>G (p.Asp2710Gly)
c.8849A>G (p.Asp2950Gly)
c.9347A>G (p.Asp3116Gly)
c.6944A>G (p.Asp2315Gly)
2g.237325703T>GCA351185991COL6A3c.1731A>C
c.8732A>C (p.Asp2911Ala)
c.1477A>C
c.216A>C (n.216A>C)
c.9350A>C (p.Asp3117Ala)
c.7526A>C (p.Asp2509Ala)
c.7529A>C (p.Asp2510Ala)
n.4478A>C
n.5792A>C
c.8750A>C (p.Asp2917Ala)
c.8129A>C (p.Asp2710Ala)
c.8849A>C (p.Asp2950Ala)
c.9347A>C (p.Asp3116Ala)
c.6944A>C (p.Asp2315Ala)
2g.237325704C>ACA351185996COL6A3c.1730G>T
c.8731G>T (p.Asp2911Tyr)
c.1476G>T
c.215G>T (n.215G>T)
c.9349G>T (p.Asp3117Tyr)
c.7525G>T (p.Asp2509Tyr)
c.7528G>T (p.Asp2510Tyr)
n.4477G>T
n.5791G>T
c.8749G>T (p.Asp2917Tyr)
c.8128G>T (p.Asp2710Tyr)
c.8848G>T (p.Asp2950Tyr)
c.9346G>T (p.Asp3116Tyr)
c.6943G>T (p.Asp2315Tyr)
2g.237325704C=CA1337602345COL6A3c.1730G=
c.8731G= (p.Asp2911=)
c.1476G=
c.215G= (n.215G=)
c.9349G= (p.Asp3117=)
c.7525G= (p.Asp2509=)
c.7528G= (p.Asp2510=)
n.4477G=
n.5791G=
c.8749G= (p.Asp2917=)
c.8128G= (p.Asp2710=)
c.8848G= (p.Asp2950=)
c.9346G= (p.Asp3116=)
c.6943G= (p.Asp2315=)
2g.237325704C>GCA351185998COL6A3c.1730G>C
c.8731G>C (p.Asp2911His)
c.1476G>C
c.215G>C (n.215G>C)
c.9349G>C (p.Asp3117His)
c.7525G>C (p.Asp2509His)
c.7528G>C (p.Asp2510His)
n.4477G>C
n.5791G>C
c.8749G>C (p.Asp2917His)
c.8128G>C (p.Asp2710His)
c.8848G>C (p.Asp2950His)
c.9346G>C (p.Asp3116His)
c.6943G>C (p.Asp2315His)
2g.237325704C>TCA351186000COL6A3c.1730G>A
c.8731G>A (p.Asp2911Asn)
c.1476G>A
c.215G>A (n.215G>A)
c.9349G>A (p.Asp3117Asn)
c.7525G>A (p.Asp2509Asn)
c.7528G>A (p.Asp2510Asn)
n.4477G>A
n.5791G>A
c.8749G>A (p.Asp2917Asn)
c.8128G>A (p.Asp2710Asn)
c.8848G>A (p.Asp2950Asn)
c.9346G>A (p.Asp3116Asn)
c.6943G>A (p.Asp2315Asn)
 dbSNP gnomAD v4
2g.237325705T>ACA351186002COL6A3c.1729A>T
c.8730A>T (p.Lys2910Asn)
c.1475A>T
c.214A>T (n.214A>T)
c.9348A>T (p.Lys3116Asn)
c.7524A>T (p.Lys2508Asn)
c.7527A>T (p.Lys2509Asn)
n.4476A>T
n.5790A>T
c.8748A>T (p.Lys2916Asn)
c.8127A>T (p.Lys2709Asn)
c.8847A>T (p.Lys2949Asn)
c.9345A>T (p.Lys3115Asn)
c.6942A>T (p.Lys2314Asn)
2g.237325705T>CCA431674658COL6A3c.1729A>G
c.8730A>G (p.Lys2910=)
c.1475A>G
c.214A>G (n.214A>G)
c.9348A>G (p.Lys3116=)
c.7524A>G (p.Lys2508=)
c.7527A>G (p.Lys2509=)
n.4476A>G
n.5790A>G
c.8748A>G (p.Lys2916=)
c.8127A>G (p.Lys2709=)
c.8847A>G (p.Lys2949=)
c.9345A>G (p.Lys3115=)
c.6942A>G (p.Lys2314=)
2g.237325705T>GCA351186013COL6A3c.1729A>C
c.8730A>C (p.Lys2910Asn)
c.1475A>C
c.214A>C (n.214A>C)
c.9348A>C (p.Lys3116Asn)
c.7524A>C (p.Lys2508Asn)
c.7527A>C (p.Lys2509Asn)
n.4476A>C
n.5790A>C
c.8748A>C (p.Lys2916Asn)
c.8127A>C (p.Lys2709Asn)
c.8847A>C (p.Lys2949Asn)
c.9345A>C (p.Lys3115Asn)
c.6942A>C (p.Lys2314Asn)
2g.237325707delCA2663789454COL6A3c.1729del
c.8730del (p.Asp2911ThrfsTer10)
c.1475del
c.214del (n.214del)
c.9348del (p.Asp3117ThrfsTer10)
c.7524del (p.Asp2509ThrfsTer10)
c.7527del (p.Asp2510ThrfsTer10)
n.4476del
n.5790del
c.8748del (p.Asp2917ThrfsTer10)
c.8127del (p.Asp2710ThrfsTer10)
c.8847del (p.Asp2950ThrfsTer10)
c.9345del (p.Asp3116ThrfsTer10)
c.6942del (p.Asp2315ThrfsTer10)
 gnomAD v4
2g.237325706T>ACA351186014COL6A3c.1728A>T
c.8729A>T (p.Lys2910Ile)
c.1474A>T
c.213A>T (n.213A>T)
c.9347A>T (p.Lys3116Ile)
c.7523A>T (p.Lys2508Ile)
c.7526A>T (p.Lys2509Ile)
n.4475A>T
n.5789A>T
c.8747A>T (p.Lys2916Ile)
c.8126A>T (p.Lys2709Ile)
c.8846A>T (p.Lys2949Ile)
c.9344A>T (p.Lys3115Ile)
c.6941A>T (p.Lys2314Ile)
2g.237325706T>CCA351186015COL6A3c.1728A>G
c.8729A>G (p.Lys2910Arg)
c.1474A>G
c.213A>G (n.213A>G)
c.9347A>G (p.Lys3116Arg)
c.7523A>G (p.Lys2508Arg)
c.7526A>G (p.Lys2509Arg)
n.4475A>G
n.5789A>G
c.8747A>G (p.Lys2916Arg)
c.8126A>G (p.Lys2709Arg)
c.8846A>G (p.Lys2949Arg)
c.9344A>G (p.Lys3115Arg)
c.6941A>G (p.Lys2314Arg)
2g.237325706T>GCA351186016COL6A3c.1728A>C
c.8729A>C (p.Lys2910Thr)
c.1474A>C
c.213A>C (n.213A>C)
c.9347A>C (p.Lys3116Thr)
c.7523A>C (p.Lys2508Thr)
c.7526A>C (p.Lys2509Thr)
n.4475A>C
n.5789A>C
c.8747A>C (p.Lys2916Thr)
c.8126A>C (p.Lys2709Thr)
c.8846A>C (p.Lys2949Thr)
c.9344A>C (p.Lys3115Thr)
c.6941A>C (p.Lys2314Thr)
2g.237325707T>ACA351186018COL6A3c.1727A>T
c.8728A>T (p.Lys2910Ter)
c.1473A>T
c.212A>T (n.212A>T)
c.9346A>T (p.Lys3116Ter)
c.7522A>T (p.Lys2508Ter)
c.7525A>T (p.Lys2509Ter)
n.4474A>T
n.5788A>T
c.8746A>T (p.Lys2916Ter)
c.8125A>T (p.Lys2709Ter)
c.8845A>T (p.Lys2949Ter)
c.9343A>T (p.Lys3115Ter)
c.6940A>T (p.Lys2314Ter)
2g.237325707T>CCA351186019COL6A3c.1727A>G
c.8728A>G (p.Lys2910Glu)
c.1473A>G
c.212A>G (n.212A>G)
c.9346A>G (p.Lys3116Glu)
c.7522A>G (p.Lys2508Glu)
c.7525A>G (p.Lys2509Glu)
n.4474A>G
n.5788A>G
c.8746A>G (p.Lys2916Glu)
c.8125A>G (p.Lys2709Glu)
c.8845A>G (p.Lys2949Glu)
c.9343A>G (p.Lys3115Glu)
c.6940A>G (p.Lys2314Glu)
2g.237325707T>GCA351186021COL6A3c.1727A>C
c.8728A>C (p.Lys2910Gln)
c.1473A>C
c.212A>C (n.212A>C)
c.9346A>C (p.Lys3116Gln)
c.7522A>C (p.Lys2508Gln)
c.7525A>C (p.Lys2509Gln)
n.4474A>C
n.5788A>C
c.8746A>C (p.Lys2916Gln)
c.8125A>C (p.Lys2709Gln)
c.8845A>C (p.Lys2949Gln)
c.9343A>C (p.Lys3115Gln)
c.6940A>C (p.Lys2314Gln)
2g.237325708C>ACA431674662COL6A3c.1726G>T
c.8727G>T (p.Pro2909=)
c.1472G>T
c.211G>T (n.211G>T)
c.9345G>T (p.Pro3115=)
c.7521G>T (p.Pro2507=)
c.7524G>T (p.Pro2508=)
n.4473G>T
n.5787G>T
c.8745G>T (p.Pro2915=)
c.8124G>T (p.Pro2708=)
c.8844G>T (p.Pro2948=)
c.9342G>T (p.Pro3114=)
c.6939G>T (p.Pro2313=)
2g.237325708C=CA1337602346COL6A3c.1726G=
c.8727G= (p.Pro2909=)
c.1472G=
c.211G= (n.211G=)
c.9345G= (p.Pro3115=)
c.7521G= (p.Pro2507=)
c.7524G= (p.Pro2508=)
n.4473G=
n.5787G=
c.8745G= (p.Pro2915=)
c.8124G= (p.Pro2708=)
c.8844G= (p.Pro2948=)
c.9342G= (p.Pro3114=)
c.6939G= (p.Pro2313=)
2g.237325708C>GCA431674664COL6A3c.1726G>C
c.8727G>C (p.Pro2909=)
c.1472G>C
c.211G>C (n.211G>C)
c.9345G>C (p.Pro3115=)
c.7521G>C (p.Pro2507=)
c.7524G>C (p.Pro2508=)
n.4473G>C
n.5787G>C
c.8745G>C (p.Pro2915=)
c.8124G>C (p.Pro2708=)
c.8844G>C (p.Pro2948=)
c.9342G>C (p.Pro3114=)
c.6939G>C (p.Pro2313=)
2g.237325708C>TCA2187286COL6A3c.1726G>A
c.8727G>A (p.Pro2909=)
c.1472G>A
c.211G>A (n.211G>A)
c.9345G>A (p.Pro3115=)
c.7521G>A (p.Pro2507=)
c.7524G>A (p.Pro2508=)
n.4473G>A
n.5787G>A
c.8745G>A (p.Pro2915=)
c.8124G>A (p.Pro2708=)
c.8844G>A (p.Pro2948=)
c.9342G>A (p.Pro3114=)
c.6939G>A (p.Pro2313=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237325709G>ACA2187287COL6A3c.1725C>T
c.8726C>T (p.Pro2909Leu)
c.1471C>T
c.210C>T (n.210C>T)
c.9344C>T (p.Pro3115Leu)
c.7520C>T (p.Pro2507Leu)
c.7523C>T (p.Pro2508Leu)
n.4472C>T
n.5786C>T
c.8744C>T (p.Pro2915Leu)
c.8123C>T (p.Pro2708Leu)
c.8843C>T (p.Pro2948Leu)
c.9341C>T (p.Pro3114Leu)
c.6938C>T (p.Pro2313Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325709G>CCA351186025COL6A3c.1725C>G
c.8726C>G (p.Pro2909Arg)
c.1471C>G
c.210C>G (n.210C>G)
c.9344C>G (p.Pro3115Arg)
c.7520C>G (p.Pro2507Arg)
c.7523C>G (p.Pro2508Arg)
n.4472C>G
n.5786C>G
c.8744C>G (p.Pro2915Arg)
c.8123C>G (p.Pro2708Arg)
c.8843C>G (p.Pro2948Arg)
c.9341C>G (p.Pro3114Arg)
c.6938C>G (p.Pro2313Arg)
2g.237325709G=CA1337602347COL6A3c.1725C=
c.8726C= (p.Pro2909=)
c.1471C=
c.210C= (n.210C=)
c.9344C= (p.Pro3115=)
c.7520C= (p.Pro2507=)
c.7523C= (p.Pro2508=)
n.4472C=
n.5786C=
c.8744C= (p.Pro2915=)
c.8123C= (p.Pro2708=)
c.8843C= (p.Pro2948=)
c.9341C= (p.Pro3114=)
c.6938C= (p.Pro2313=)
2g.237325709G>TCA351186024COL6A3c.1725C>A
c.8726C>A (p.Pro2909Gln)
c.1471C>A
c.210C>A (n.210C>A)
c.9344C>A (p.Pro3115Gln)
c.7520C>A (p.Pro2507Gln)
c.7523C>A (p.Pro2508Gln)
n.4472C>A
n.5786C>A
c.8744C>A (p.Pro2915Gln)
c.8123C>A (p.Pro2708Gln)
c.8843C>A (p.Pro2948Gln)
c.9341C>A (p.Pro3114Gln)
c.6938C>A (p.Pro2313Gln)
2g.237325710G>ACA351186029COL6A3c.1724C>T
c.8725C>T (p.Pro2909Ser)
c.1470C>T
c.209C>T (n.209C>T)
c.9343C>T (p.Pro3115Ser)
c.7519C>T (p.Pro2507Ser)
c.7522C>T (p.Pro2508Ser)
n.4471C>T
n.5785C>T
c.8743C>T (p.Pro2915Ser)
c.8122C>T (p.Pro2708Ser)
c.8842C>T (p.Pro2948Ser)
c.9340C>T (p.Pro3114Ser)
c.6937C>T (p.Pro2313Ser)
2g.237325710G>CCA351186030COL6A3c.1724C>G
c.8725C>G (p.Pro2909Ala)
c.1470C>G
c.209C>G (n.209C>G)
c.9343C>G (p.Pro3115Ala)
c.7519C>G (p.Pro2507Ala)
c.7522C>G (p.Pro2508Ala)
n.4471C>G
n.5785C>G
c.8743C>G (p.Pro2915Ala)
c.8122C>G (p.Pro2708Ala)
c.8842C>G (p.Pro2948Ala)
c.9340C>G (p.Pro3114Ala)
c.6937C>G (p.Pro2313Ala)
2g.237325710G>TCA351186031COL6A3c.1724C>A
c.8725C>A (p.Pro2909Thr)
c.1470C>A
c.209C>A (n.209C>A)
c.9343C>A (p.Pro3115Thr)
c.7519C>A (p.Pro2507Thr)
c.7522C>A (p.Pro2508Thr)
n.4471C>A
n.5785C>A
c.8743C>A (p.Pro2915Thr)
c.8122C>A (p.Pro2708Thr)
c.8842C>A (p.Pro2948Thr)
c.9340C>A (p.Pro3114Thr)
c.6937C>A (p.Pro2313Thr)
2g.237325711C>ACA351186032COL6A3c.1723G>T
c.8724G>T (p.Leu2908Phe)
c.1469G>T
c.208G>T (n.208G>T)
c.9342G>T (p.Leu3114Phe)
c.7518G>T (p.Leu2506Phe)
c.7521G>T (p.Leu2507Phe)
n.4470G>T
n.5784G>T
c.8742G>T (p.Leu2914Phe)
c.8121G>T (p.Leu2707Phe)
c.8841G>T (p.Leu2947Phe)
c.9339G>T (p.Leu3113Phe)
c.6936G>T (p.Leu2312Phe)
 gnomAD v4
2g.237325711C>GCA351186034COL6A3c.1723G>C
c.8724G>C (p.Leu2908Phe)
c.1469G>C
c.208G>C (n.208G>C)
c.9342G>C (p.Leu3114Phe)
c.7518G>C (p.Leu2506Phe)
c.7521G>C (p.Leu2507Phe)
n.4470G>C
n.5784G>C
c.8742G>C (p.Leu2914Phe)
c.8121G>C (p.Leu2707Phe)
c.8841G>C (p.Leu2947Phe)
c.9339G>C (p.Leu3113Phe)
c.6936G>C (p.Leu2312Phe)
2g.237325711C>TCA431674666COL6A3c.1723G>A
c.8724G>A (p.Leu2908=)
c.1469G>A
c.208G>A (n.208G>A)
c.9342G>A (p.Leu3114=)
c.7518G>A (p.Leu2506=)
c.7521G>A (p.Leu2507=)
n.4470G>A
n.5784G>A
c.8742G>A (p.Leu2914=)
c.8121G>A (p.Leu2707=)
c.8841G>A (p.Leu2947=)
c.9339G>A (p.Leu3113=)
c.6936G>A (p.Leu2312=)
2g.237325712A>CCA351186041COL6A3c.1722T>G
c.8723T>G (p.Leu2908Trp)
c.1468T>G
c.207T>G (n.207T>G)
c.9341T>G (p.Leu3114Trp)
c.7517T>G (p.Leu2506Trp)
c.7520T>G (p.Leu2507Trp)
n.4469T>G
n.5783T>G
c.8741T>G (p.Leu2914Trp)
c.8120T>G (p.Leu2707Trp)
c.8840T>G (p.Leu2947Trp)
c.9338T>G (p.Leu3113Trp)
c.6935T>G (p.Leu2312Trp)
2g.237325712A>GCA351186042COL6A3c.1722T>C
c.8723T>C (p.Leu2908Ser)
c.1468T>C
c.207T>C (n.207T>C)
c.9341T>C (p.Leu3114Ser)
c.7517T>C (p.Leu2506Ser)
c.7520T>C (p.Leu2507Ser)
n.4469T>C
n.5783T>C
c.8741T>C (p.Leu2914Ser)
c.8120T>C (p.Leu2707Ser)
c.8840T>C (p.Leu2947Ser)
c.9338T>C (p.Leu3113Ser)
c.6935T>C (p.Leu2312Ser)
2g.237325712A>TCA351186043COL6A3c.1722T>A
c.8723T>A (p.Leu2908Ter)
c.1468T>A
c.207T>A (n.207T>A)
c.9341T>A (p.Leu3114Ter)
c.7517T>A (p.Leu2506Ter)
c.7520T>A (p.Leu2507Ter)
n.4469T>A
n.5783T>A
c.8741T>A (p.Leu2914Ter)
c.8120T>A (p.Leu2707Ter)
c.8840T>A (p.Leu2947Ter)
c.9338T>A (p.Leu3113Ter)
c.6935T>A (p.Leu2312Ter)
2g.237325713A>CCA351186046COL6A3c.1721T>G
c.8722T>G (p.Leu2908Val)
c.1467T>G
c.206T>G (n.206T>G)
c.9340T>G (p.Leu3114Val)
c.7516T>G (p.Leu2506Val)
c.7519T>G (p.Leu2507Val)
n.4468T>G
n.5782T>G
c.8740T>G (p.Leu2914Val)
c.8119T>G (p.Leu2707Val)
c.8839T>G (p.Leu2947Val)
c.9337T>G (p.Leu3113Val)
c.6934T>G (p.Leu2312Val)
2g.237325713A>GCA431674667COL6A3c.1721T>C
c.8722T>C (p.Leu2908=)
c.1467T>C
c.206T>C (n.206T>C)
c.9340T>C (p.Leu3114=)
c.7516T>C (p.Leu2506=)
c.7519T>C (p.Leu2507=)
n.4468T>C
n.5782T>C
c.8740T>C (p.Leu2914=)
c.8119T>C (p.Leu2707=)
c.8839T>C (p.Leu2947=)
c.9337T>C (p.Leu3113=)
c.6934T>C (p.Leu2312=)
2g.237325713A>TCA351186047COL6A3c.1721T>A
c.8722T>A (p.Leu2908Met)
c.1467T>A
c.206T>A (n.206T>A)
c.9340T>A (p.Leu3114Met)
c.7516T>A (p.Leu2506Met)
c.7519T>A (p.Leu2507Met)
n.4468T>A
n.5782T>A
c.8740T>A (p.Leu2914Met)
c.8119T>A (p.Leu2707Met)
c.8839T>A (p.Leu2947Met)
c.9337T>A (p.Leu3113Met)
c.6934T>A (p.Leu2312Met)
2g.237325714C>ACA351186048COL6A3c.1720G>T
c.8721G>T (p.Lys2907Asn)
c.1466G>T
c.205G>T (n.205G>T)
c.9339G>T (p.Lys3113Asn)
c.7515G>T (p.Lys2505Asn)
c.7518G>T (p.Lys2506Asn)
n.4467G>T
n.5781G>T
c.8739G>T (p.Lys2913Asn)
c.8118G>T (p.Lys2706Asn)
c.8838G>T (p.Lys2946Asn)
c.9336G>T (p.Lys3112Asn)
c.6933G>T (p.Lys2311Asn)
2g.237325714C=CA1337602348COL6A3c.1720G=
c.8721G= (p.Lys2907=)
c.1466G=
c.205G= (n.205G=)
c.9339G= (p.Lys3113=)
c.7515G= (p.Lys2505=)
c.7518G= (p.Lys2506=)
n.4467G=
n.5781G=
c.8739G= (p.Lys2913=)
c.8118G= (p.Lys2706=)
c.8838G= (p.Lys2946=)
c.9336G= (p.Lys3112=)
c.6933G= (p.Lys2311=)
2g.237325714C>GCA351186050COL6A3c.1720G>C
c.8721G>C (p.Lys2907Asn)
c.1466G>C
c.205G>C (n.205G>C)
c.9339G>C (p.Lys3113Asn)
c.7515G>C (p.Lys2505Asn)
c.7518G>C (p.Lys2506Asn)
n.4467G>C
n.5781G>C
c.8739G>C (p.Lys2913Asn)
c.8118G>C (p.Lys2706Asn)
c.8838G>C (p.Lys2946Asn)
c.9336G>C (p.Lys3112Asn)
c.6933G>C (p.Lys2311Asn)
2g.237325714C>TCA2187288COL6A3c.1720G>A
c.8721G>A (p.Lys2907=)
c.1466G>A
c.205G>A (n.205G>A)
c.9339G>A (p.Lys3113=)
c.7515G>A (p.Lys2505=)
c.7518G>A (p.Lys2506=)
n.4467G>A
n.5781G>A
c.8739G>A (p.Lys2913=)
c.8118G>A (p.Lys2706=)
c.8838G>A (p.Lys2946=)
c.9336G>A (p.Lys3112=)
c.6933G>A (p.Lys2311=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325715T>ACA351186057COL6A3c.1719A>T
c.8720A>T (p.Lys2907Met)
c.1465A>T
c.204A>T (n.204A>T)
c.9338A>T (p.Lys3113Met)
c.7514A>T (p.Lys2505Met)
c.7517A>T (p.Lys2506Met)
n.4466A>T
n.5780A>T
c.8738A>T (p.Lys2913Met)
c.8117A>T (p.Lys2706Met)
c.8837A>T (p.Lys2946Met)
c.9335A>T (p.Lys3112Met)
c.6932A>T (p.Lys2311Met)
2g.237325715T>CCA2187289COL6A3c.1719A>G
c.8720A>G (p.Lys2907Arg)
c.1465A>G
c.204A>G (n.204A>G)
c.9338A>G (p.Lys3113Arg)
c.7514A>G (p.Lys2505Arg)
c.7517A>G (p.Lys2506Arg)
n.4466A>G
n.5780A>G
c.8738A>G (p.Lys2913Arg)
c.8117A>G (p.Lys2706Arg)
c.8837A>G (p.Lys2946Arg)
c.9335A>G (p.Lys3112Arg)
c.6932A>G (p.Lys2311Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237325715T>GCA351186053COL6A3c.1719A>C
c.8720A>C (p.Lys2907Thr)
c.1465A>C
c.204A>C (n.204A>C)
c.9338A>C (p.Lys3113Thr)
c.7514A>C (p.Lys2505Thr)
c.7517A>C (p.Lys2506Thr)
n.4466A>C
n.5780A>C
c.8738A>C (p.Lys2913Thr)
c.8117A>C (p.Lys2706Thr)
c.8837A>C (p.Lys2946Thr)
c.9335A>C (p.Lys3112Thr)
c.6932A>C (p.Lys2311Thr)
2g.237325715T=CA1337602349COL6A3c.1719A=
c.8720A= (p.Lys2907=)
c.1465A=
c.204A= (n.204A=)
c.9338A= (p.Lys3113=)
c.7514A= (p.Lys2505=)
c.7517A= (p.Lys2506=)
n.4466A=
n.5780A=
c.8738A= (p.Lys2913=)
c.8117A= (p.Lys2706=)
c.8837A= (p.Lys2946=)
c.9335A= (p.Lys3112=)
c.6932A= (p.Lys2311=)
2g.237325716T>ACA351186060COL6A3c.1718A>T
c.8719A>T (p.Lys2907Ter)
c.1464A>T
c.203A>T (n.203A>T)
c.9337A>T (p.Lys3113Ter)
c.7513A>T (p.Lys2505Ter)
c.7516A>T (p.Lys2506Ter)
n.4465A>T
n.5779A>T
c.8737A>T (p.Lys2913Ter)
c.8116A>T (p.Lys2706Ter)
c.8836A>T (p.Lys2946Ter)
c.9334A>T (p.Lys3112Ter)
c.6931A>T (p.Lys2311Ter)
2g.237325716T>CCA351186059COL6A3c.1718A>G
c.8719A>G (p.Lys2907Glu)
c.1464A>G
c.203A>G (n.203A>G)
c.9337A>G (p.Lys3113Glu)
c.7513A>G (p.Lys2505Glu)
c.7516A>G (p.Lys2506Glu)
n.4465A>G
n.5779A>G
c.8737A>G (p.Lys2913Glu)
c.8116A>G (p.Lys2706Glu)
c.8836A>G (p.Lys2946Glu)
c.9334A>G (p.Lys3112Glu)
c.6931A>G (p.Lys2311Glu)
2g.237325716T>GCA67823253COL6A3c.1718A>C
c.8719A>C (p.Lys2907Gln)
c.1464A>C
c.203A>C (n.203A>C)
c.9337A>C (p.Lys3113Gln)
c.7513A>C (p.Lys2505Gln)
c.7516A>C (p.Lys2506Gln)
n.4465A>C
n.5779A>C
c.8737A>C (p.Lys2913Gln)
c.8116A>C (p.Lys2706Gln)
c.8836A>C (p.Lys2946Gln)
c.9334A>C (p.Lys3112Gln)
c.6931A>C (p.Lys2311Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.237325716T=CA1337602350COL6A3c.1718A=
c.8719A= (p.Lys2907=)
c.1464A=
c.203A= (n.203A=)
c.9337A= (p.Lys3113=)
c.7513A= (p.Lys2505=)
c.7516A= (p.Lys2506=)
n.4465A=
n.5779A=
c.8737A= (p.Lys2913=)
c.8116A= (p.Lys2706=)
c.8836A= (p.Lys2946=)
c.9334A= (p.Lys3112=)
c.6931A= (p.Lys2311=)
2g.237325717G>ACA431674673COL6A3c.1717C>T
c.8718C>T (p.Cys2906=)
c.1463C>T
c.202C>T (n.202C>T)
c.9336C>T (p.Cys3112=)
c.7512C>T (p.Cys2504=)
c.7515C>T (p.Cys2505=)
n.4464C>T
n.5778C>T
c.8736C>T (p.Cys2912=)
c.8115C>T (p.Cys2705=)
c.8835C>T (p.Cys2945=)
c.9333C>T (p.Cys3111=)
c.6930C>T (p.Cys2310=)
 gnomAD v4
2g.237325717G>CCA351186061COL6A3c.1717C>G
c.8718C>G (p.Cys2906Trp)
c.1463C>G
c.202C>G (n.202C>G)
c.9336C>G (p.Cys3112Trp)
c.7512C>G (p.Cys2504Trp)
c.7515C>G (p.Cys2505Trp)
n.4464C>G
n.5778C>G
c.8736C>G (p.Cys2912Trp)
c.8115C>G (p.Cys2705Trp)
c.8835C>G (p.Cys2945Trp)
c.9333C>G (p.Cys3111Trp)
c.6930C>G (p.Cys2310Trp)
 gnomAD v4
2g.237325717G>TCA351186062COL6A3c.1717C>A
c.8718C>A (p.Cys2906Ter)
c.1463C>A
c.202C>A (n.202C>A)
c.9336C>A (p.Cys3112Ter)
c.7512C>A (p.Cys2504Ter)
c.7515C>A (p.Cys2505Ter)
n.4464C>A
n.5778C>A
c.8736C>A (p.Cys2912Ter)
c.8115C>A (p.Cys2705Ter)
c.8835C>A (p.Cys2945Ter)
c.9333C>A (p.Cys3111Ter)
c.6930C>A (p.Cys2310Ter)
 COSMIC
2g.237325718C>ACA351186064COL6A3c.1716G>T
c.8717G>T (p.Cys2906Phe)
c.1462G>T
c.201G>T (n.201G>T)
c.9335G>T (p.Cys3112Phe)
c.7511G>T (p.Cys2504Phe)
c.7514G>T (p.Cys2505Phe)
n.4463G>T
n.5777G>T
c.8735G>T (p.Cys2912Phe)
c.8114G>T (p.Cys2705Phe)
c.8834G>T (p.Cys2945Phe)
c.9332G>T (p.Cys3111Phe)
c.6929G>T (p.Cys2310Phe)
2g.237325718C>GCA351186066COL6A3c.1716G>C
c.8717G>C (p.Cys2906Ser)
c.1462G>C
c.201G>C (n.201G>C)
c.9335G>C (p.Cys3112Ser)
c.7511G>C (p.Cys2504Ser)
c.7514G>C (p.Cys2505Ser)
n.4463G>C
n.5777G>C
c.8735G>C (p.Cys2912Ser)
c.8114G>C (p.Cys2705Ser)
c.8834G>C (p.Cys2945Ser)
c.9332G>C (p.Cys3111Ser)
c.6929G>C (p.Cys2310Ser)
2g.237325718C>TCA351186068COL6A3c.1716G>A
c.8717G>A (p.Cys2906Tyr)
c.1462G>A
c.201G>A (n.201G>A)
c.9335G>A (p.Cys3112Tyr)
c.7511G>A (p.Cys2504Tyr)
c.7514G>A (p.Cys2505Tyr)
n.4463G>A
n.5777G>A
c.8735G>A (p.Cys2912Tyr)
c.8114G>A (p.Cys2705Tyr)
c.8834G>A (p.Cys2945Tyr)
c.9332G>A (p.Cys3111Tyr)
c.6929G>A (p.Cys2310Tyr)
2g.237325719A>CCA351186069COL6A3c.1715T>G
c.8716T>G (p.Cys2906Gly)
c.1461T>G
c.200T>G (n.200T>G)
c.9334T>G (p.Cys3112Gly)
c.7510T>G (p.Cys2504Gly)
c.7513T>G (p.Cys2505Gly)
n.4462T>G
n.5776T>G
c.8734T>G (p.Cys2912Gly)
c.8113T>G (p.Cys2705Gly)
c.8833T>G (p.Cys2945Gly)
c.9331T>G (p.Cys3111Gly)
c.6928T>G (p.Cys2310Gly)
2g.237325719A>GCA351186070COL6A3c.1715T>C
c.8716T>C (p.Cys2906Arg)
c.1461T>C
c.200T>C (n.200T>C)
c.9334T>C (p.Cys3112Arg)
c.7510T>C (p.Cys2504Arg)
c.7513T>C (p.Cys2505Arg)
n.4462T>C
n.5776T>C
c.8734T>C (p.Cys2912Arg)
c.8113T>C (p.Cys2705Arg)
c.8833T>C (p.Cys2945Arg)
c.9331T>C (p.Cys3111Arg)
c.6928T>C (p.Cys2310Arg)
 ClinVar
2g.237325719A>TCA351186072COL6A3c.1715T>A
c.8716T>A (p.Cys2906Ser)
c.1461T>A
c.200T>A (n.200T>A)
c.9334T>A (p.Cys3112Ser)
c.7510T>A (p.Cys2504Ser)
c.7513T>A (p.Cys2505Ser)
n.4462T>A
n.5776T>A
c.8734T>A (p.Cys2912Ser)
c.8113T>A (p.Cys2705Ser)
c.8833T>A (p.Cys2945Ser)
c.9331T>A (p.Cys3111Ser)
c.6928T>A (p.Cys2310Ser)
2g.237325720T>ACA431674676COL6A3c.1714A>T
c.8715A>T (p.Ile2905=)
c.1460A>T
c.199A>T (n.199A>T)
c.9333A>T (p.Ile3111=)
c.7509A>T (p.Ile2503=)
c.7512A>T (p.Ile2504=)
n.4461A>T
n.5775A>T
c.8733A>T (p.Ile2911=)
c.8112A>T (p.Ile2704=)
c.8832A>T (p.Ile2944=)
c.9330A>T (p.Ile3110=)
c.6927A>T (p.Ile2309=)
2g.237325720T>CCA351186074COL6A3c.1714A>G
c.8715A>G (p.Ile2905Met)
c.1460A>G
c.199A>G (n.199A>G)
c.9333A>G (p.Ile3111Met)
c.7509A>G (p.Ile2503Met)
c.7512A>G (p.Ile2504Met)
n.4461A>G
n.5775A>G
c.8733A>G (p.Ile2911Met)
c.8112A>G (p.Ile2704Met)
c.8832A>G (p.Ile2944Met)
c.9330A>G (p.Ile3110Met)
c.6927A>G (p.Ile2309Met)
2g.237325720T>GCA431674678COL6A3c.1714A>C
c.8715A>C (p.Ile2905=)
c.1460A>C
c.199A>C (n.199A>C)
c.9333A>C (p.Ile3111=)
c.7509A>C (p.Ile2503=)
c.7512A>C (p.Ile2504=)
n.4461A>C
n.5775A>C
c.8733A>C (p.Ile2911=)
c.8112A>C (p.Ile2704=)
c.8832A>C (p.Ile2944=)
c.9330A>C (p.Ile3110=)
c.6927A>C (p.Ile2309=)
2g.237325721A=CA1337602351COL6A3c.1713T=
c.8714T= (p.Ile2905=)
c.1459T=
c.198T= (n.198T=)
c.9332T= (p.Ile3111=)
c.7508T= (p.Ile2503=)
c.7511T= (p.Ile2504=)
n.4460T=
n.5774T=
c.8732T= (p.Ile2911=)
c.8111T= (p.Ile2704=)
c.8831T= (p.Ile2944=)
c.9329T= (p.Ile3110=)
c.6926T= (p.Ile2309=)
2g.237325721A>CCA351186076COL6A3c.1713T>G
c.8714T>G (p.Ile2905Arg)
c.1459T>G
c.198T>G (n.198T>G)
c.9332T>G (p.Ile3111Arg)
c.7508T>G (p.Ile2503Arg)
c.7511T>G (p.Ile2504Arg)
n.4460T>G
n.5774T>G
c.8732T>G (p.Ile2911Arg)
c.8111T>G (p.Ile2704Arg)
c.8831T>G (p.Ile2944Arg)
c.9329T>G (p.Ile3110Arg)
c.6926T>G (p.Ile2309Arg)
2g.237325721A>GCA2187290COL6A3c.1713T>C
c.8714T>C (p.Ile2905Thr)
c.1459T>C
c.198T>C (n.198T>C)
c.9332T>C (p.Ile3111Thr)
c.7508T>C (p.Ile2503Thr)
c.7511T>C (p.Ile2504Thr)
n.4460T>C
n.5774T>C
c.8732T>C (p.Ile2911Thr)
c.8111T>C (p.Ile2704Thr)
c.8831T>C (p.Ile2944Thr)
c.9329T>C (p.Ile3110Thr)
c.6926T>C (p.Ile2309Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325721A>TCA351186078COL6A3c.1713T>A
c.8714T>A (p.Ile2905Lys)
c.1459T>A
c.198T>A (n.198T>A)
c.9332T>A (p.Ile3111Lys)
c.7508T>A (p.Ile2503Lys)
c.7511T>A (p.Ile2504Lys)
n.4460T>A
n.5774T>A
c.8732T>A (p.Ile2911Lys)
c.8111T>A (p.Ile2704Lys)
c.8831T>A (p.Ile2944Lys)
c.9329T>A (p.Ile3110Lys)
c.6926T>A (p.Ile2309Lys)
2g.237325722T>ACA351186083COL6A3c.1712A>T
c.8713A>T (p.Ile2905Leu)
c.1458A>T
c.197A>T (n.197A>T)
c.9331A>T (p.Ile3111Leu)
c.7507A>T (p.Ile2503Leu)
c.7510A>T (p.Ile2504Leu)
n.4459A>T
n.5773A>T
c.8731A>T (p.Ile2911Leu)
c.8110A>T (p.Ile2704Leu)
c.8830A>T (p.Ile2944Leu)
c.9328A>T (p.Ile3110Leu)
c.6925A>T (p.Ile2309Leu)
2g.237325722T>CCA351186081COL6A3c.1712A>G
c.8713A>G (p.Ile2905Val)
c.1458A>G
c.197A>G (n.197A>G)
c.9331A>G (p.Ile3111Val)
c.7507A>G (p.Ile2503Val)
c.7510A>G (p.Ile2504Val)
n.4459A>G
n.5773A>G
c.8731A>G (p.Ile2911Val)
c.8110A>G (p.Ile2704Val)
c.8830A>G (p.Ile2944Val)
c.9328A>G (p.Ile3110Val)
c.6925A>G (p.Ile2309Val)
2g.237325722T>GCA351186080COL6A3c.1712A>C
c.8713A>C (p.Ile2905Leu)
c.1458A>C
c.197A>C (n.197A>C)
c.9331A>C (p.Ile3111Leu)
c.7507A>C (p.Ile2503Leu)
c.7510A>C (p.Ile2504Leu)
n.4459A>C
n.5773A>C
c.8731A>C (p.Ile2911Leu)
c.8110A>C (p.Ile2704Leu)
c.8830A>C (p.Ile2944Leu)
c.9328A>C (p.Ile3110Leu)
c.6925A>C (p.Ile2309Leu)
2g.237325723A=CA1337602352COL6A3c.1711T=
c.8712T= (p.Asp2904=)
c.1457T=
c.196T= (n.196T=)
c.9330T= (p.Asp3110=)
c.7506T= (p.Asp2502=)
c.7509T= (p.Asp2503=)
n.4458T=
n.5772T=
c.8730T= (p.Asp2910=)
c.8109T= (p.Asp2703=)
c.8829T= (p.Asp2943=)
c.9327T= (p.Asp3109=)
c.6924T= (p.Asp2308=)
2g.237325723A>CCA351186084COL6A3c.1711T>G
c.8712T>G (p.Asp2904Glu)
c.1457T>G
c.196T>G (n.196T>G)
c.9330T>G (p.Asp3110Glu)
c.7506T>G (p.Asp2502Glu)
c.7509T>G (p.Asp2503Glu)
n.4458T>G
n.5772T>G
c.8730T>G (p.Asp2910Glu)
c.8109T>G (p.Asp2703Glu)
c.8829T>G (p.Asp2943Glu)
c.9327T>G (p.Asp3109Glu)
c.6924T>G (p.Asp2308Glu)
2g.237325723A>GCA431674681COL6A3c.1711T>C
c.8712T>C (p.Asp2904=)
c.1457T>C
c.196T>C (n.196T>C)
c.9330T>C (p.Asp3110=)
c.7506T>C (p.Asp2502=)
c.7509T>C (p.Asp2503=)
n.4458T>C
n.5772T>C
c.8730T>C (p.Asp2910=)
c.8109T>C (p.Asp2703=)
c.8829T>C (p.Asp2943=)
c.9327T>C (p.Asp3109=)
c.6924T>C (p.Asp2308=)
 gnomAD v4
2g.237325723A>TCA16604164COL6A3c.1711T>A
c.8712T>A (p.Asp2904Glu)
c.1457T>A
c.196T>A (n.196T>A)
c.9330T>A (p.Asp3110Glu)
c.7506T>A (p.Asp2502Glu)
c.7509T>A (p.Asp2503Glu)
n.4458T>A
n.5772T>A
c.8730T>A (p.Asp2910Glu)
c.8109T>A (p.Asp2703Glu)
c.8829T>A (p.Asp2943Glu)
c.9327T>A (p.Asp3109Glu)
c.6924T>A (p.Asp2308Glu)
 ClinVar dbSNP
2g.237325724T>ACA351186086COL6A3c.1710A>T
c.8711A>T (p.Asp2904Val)
c.1456A>T
c.195A>T (n.195A>T)
c.9329A>T (p.Asp3110Val)
c.7505A>T (p.Asp2502Val)
c.7508A>T (p.Asp2503Val)
n.4457A>T
n.5771A>T
c.8729A>T (p.Asp2910Val)
c.8108A>T (p.Asp2703Val)
c.8828A>T (p.Asp2943Val)
c.9326A>T (p.Asp3109Val)
c.6923A>T (p.Asp2308Val)
2g.237325724T>CCA351186087COL6A3c.1710A>G
c.8711A>G (p.Asp2904Gly)
c.1456A>G
c.195A>G (n.195A>G)
c.9329A>G (p.Asp3110Gly)
c.7505A>G (p.Asp2502Gly)
c.7508A>G (p.Asp2503Gly)
n.4457A>G
n.5771A>G
c.8729A>G (p.Asp2910Gly)
c.8108A>G (p.Asp2703Gly)
c.8828A>G (p.Asp2943Gly)
c.9326A>G (p.Asp3109Gly)
c.6923A>G (p.Asp2308Gly)
2g.237325724T>GCA351186088COL6A3c.1710A>C
c.8711A>C (p.Asp2904Ala)
c.1456A>C
c.195A>C (n.195A>C)
c.9329A>C (p.Asp3110Ala)
c.7505A>C (p.Asp2502Ala)
c.7508A>C (p.Asp2503Ala)
n.4457A>C
n.5771A>C
c.8729A>C (p.Asp2910Ala)
c.8108A>C (p.Asp2703Ala)
c.8828A>C (p.Asp2943Ala)
c.9326A>C (p.Asp3109Ala)
c.6923A>C (p.Asp2308Ala)
 ClinVar
2g.237325725C>ACA351186089COL6A3c.1710-1G>T
c.8711-1G>T (n.8711-1G>T)
c.1456-1G>T
c.195-1G>T (n.195-1G>T)
c.9329-1G>T (n.9329-1G>T)
c.7505-1G>T (n.7505-1G>T)
c.7508-1G>T (n.7508-1G>T)
n.4456G>T
n.5771-1G>T
c.8729-1G>T (n.8729-1G>T)
c.8108-1G>T (n.8108-1G>T)
c.8828-1G>T (n.8828-1G>T)
c.9326-1G>T (n.9326-1G>T)
c.6923-1G>T (n.6923-1G>T)
2g.237325725C>GCA351186091COL6A3c.1710-1G>C
c.8711-1G>C (n.8711-1G>C)
c.1456-1G>C
c.195-1G>C (n.195-1G>C)
c.9329-1G>C (n.9329-1G>C)
c.7505-1G>C (n.7505-1G>C)
c.7508-1G>C (n.7508-1G>C)
n.4456G>C
n.5771-1G>C
c.8729-1G>C (n.8729-1G>C)
c.8108-1G>C (n.8108-1G>C)
c.8828-1G>C (n.8828-1G>C)
c.9326-1G>C (n.9326-1G>C)
c.6923-1G>C (n.6923-1G>C)
2g.237325725C>TCA351186092COL6A3c.1710-1G>A
c.8711-1G>A (n.8711-1G>A)
c.1456-1G>A
c.195-1G>A (n.195-1G>A)
c.9329-1G>A (n.9329-1G>A)
c.7505-1G>A (n.7505-1G>A)
c.7508-1G>A (n.7508-1G>A)
n.4456G>A
n.5771-1G>A
c.8729-1G>A (n.8729-1G>A)
c.8108-1G>A (n.8108-1G>A)
c.8828-1G>A (n.8828-1G>A)
c.9326-1G>A (n.9326-1G>A)
c.6923-1G>A (n.6923-1G>A)
2g.237325726T>ACA351186094COL6A3c.1710-2A>T
c.8711-2A>T (n.8711-2A>T)
c.1456-2A>T
c.195-2A>T (n.195-2A>T)
c.9329-2A>T (n.9329-2A>T)
c.7505-2A>T (n.7505-2A>T)
c.7508-2A>T (n.7508-2A>T)
n.4455A>T
n.5771-2A>T
c.8729-2A>T (n.8729-2A>T)
c.8108-2A>T (n.8108-2A>T)
c.8828-2A>T (n.8828-2A>T)
c.9326-2A>T (n.9326-2A>T)
c.6923-2A>T (n.6923-2A>T)
2g.237325726T>CCA351186096COL6A3c.1710-2A>G
c.8711-2A>G (n.8711-2A>G)
c.1456-2A>G
c.195-2A>G (n.195-2A>G)
c.9329-2A>G (n.9329-2A>G)
c.7505-2A>G (n.7505-2A>G)
c.7508-2A>G (n.7508-2A>G)
n.4455A>G
n.5771-2A>G
c.8729-2A>G (n.8729-2A>G)
c.8108-2A>G (n.8108-2A>G)
c.8828-2A>G (n.8828-2A>G)
c.9326-2A>G (n.9326-2A>G)
c.6923-2A>G (n.6923-2A>G)
2g.237325726T>GCA351186097COL6A3c.1710-2A>C
c.8711-2A>C (n.8711-2A>C)
c.1456-2A>C
c.195-2A>C (n.195-2A>C)
c.9329-2A>C (n.9329-2A>C)
c.7505-2A>C (n.7505-2A>C)
c.7508-2A>C (n.7508-2A>C)
n.4455A>C
n.5771-2A>C
c.8729-2A>C (n.8729-2A>C)
c.8108-2A>C (n.8108-2A>C)
c.8828-2A>C (n.8828-2A>C)
c.9326-2A>C (n.9326-2A>C)
c.6923-2A>C (n.6923-2A>C)
 gnomAD v4
2g.237325726_237325727insGCA2754791274COL6A3c.1710-3_1710-2insC
c.8711-3_8711-2insC (n.8711-3_8711-2insC)
c.1456-3_1456-2insC
c.195-3_195-2insC (n.195-3_195-2insC)
c.9329-3_9329-2insC (n.9329-3_9329-2insC)
c.7505-3_7505-2insC (n.7505-3_7505-2insC)
c.7508-3_7508-2insC (n.7508-3_7508-2insC)
n.4454_4455insC
n.5771-3_5771-2insC
c.8729-3_8729-2insC (n.8729-3_8729-2insC)
c.8108-3_8108-2insC (n.8108-3_8108-2insC)
c.8828-3_8828-2insC (n.8828-3_8828-2insC)
c.9326-3_9326-2insC (n.9326-3_9326-2insC)
c.6923-3_6923-2insC (n.6923-3_6923-2insC)
2g.237325728T>ACA2187291COL6A3c.1710-4A>T
c.8711-4A>T (n.8711-4A>T)
c.1456-4A>T
c.195-4A>T (n.195-4A>T)
c.9329-4A>T (n.9329-4A>T)
c.7505-4A>T (n.7505-4A>T)
c.7508-4A>T (n.7508-4A>T)
n.4453A>T
n.5771-4A>T
c.8729-4A>T (n.8729-4A>T)
c.8108-4A>T (n.8108-4A>T)
c.8828-4A>T (n.8828-4A>T)
c.9326-4A>T (n.9326-4A>T)
c.6923-4A>T (n.6923-4A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325728T>CCA540460351COL6A3c.1710-4A>G
c.8711-4A>G (n.8711-4A>G)
c.1456-4A>G
c.195-4A>G (n.195-4A>G)
c.9329-4A>G (n.9329-4A>G)
c.7505-4A>G (n.7505-4A>G)
c.7508-4A>G (n.7508-4A>G)
n.4453A>G
n.5771-4A>G
c.8729-4A>G (n.8729-4A>G)
c.8108-4A>G (n.8108-4A>G)
c.8828-4A>G (n.8828-4A>G)
c.9326-4A>G (n.9326-4A>G)
c.6923-4A>G (n.6923-4A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237325728T>GCA2663789455COL6A3c.1710-4A>C
c.8711-4A>C (n.8711-4A>C)
c.1456-4A>C
c.195-4A>C (n.195-4A>C)
c.9329-4A>C (n.9329-4A>C)
c.7505-4A>C (n.7505-4A>C)
c.7508-4A>C (n.7508-4A>C)
n.4453A>C
n.5771-4A>C
c.8729-4A>C (n.8729-4A>C)
c.8108-4A>C (n.8108-4A>C)
c.8828-4A>C (n.8828-4A>C)
c.9326-4A>C (n.9326-4A>C)
c.6923-4A>C (n.6923-4A>C)
 gnomAD v4
2g.237325728T=CA1337602353COL6A3c.1710-4A=
c.8711-4A= (n.8711-4A=)
c.1456-4A=
c.195-4A= (n.195-4A=)
c.9329-4A= (n.9329-4A=)
c.7505-4A= (n.7505-4A=)
c.7508-4A= (n.7508-4A=)
n.4453A=
n.5771-4A=
c.8729-4A= (n.8729-4A=)
c.8108-4A= (n.8108-4A=)
c.8828-4A= (n.8828-4A=)
c.9326-4A= (n.9326-4A=)
c.6923-4A= (n.6923-4A=)
2g.237325728_237325729insTCAGTGAGAGCCCA1337602354COL6A3c.1710-5_1710-4insGGCTCTCACTGA
c.8711-5_8711-4insGGCTCTCACTGA (n.8711-5_8711-4insGGCTCTCACTGA)
c.1456-5_1456-4insGGCTCTCACTGA
c.195-5_195-4insGGCTCTCACTGA (n.195-5_195-4insGGCTCTCACTGA)
c.9329-5_9329-4insGGCTCTCACTGA (n.9329-5_9329-4insGGCTCTCACTGA)
c.7505-5_7505-4insGGCTCTCACTGA (n.7505-5_7505-4insGGCTCTCACTGA)
c.7508-5_7508-4insGGCTCTCACTGA (n.7508-5_7508-4insGGCTCTCACTGA)
n.4452_4453insGGCTCTCACTGA
n.5771-5_5771-4insGGCTCTCACTGA
c.8729-5_8729-4insGGCTCTCACTGA (n.8729-5_8729-4insGGCTCTCACTGA)
c.8108-5_8108-4insGGCTCTCACTGA (n.8108-5_8108-4insGGCTCTCACTGA)
c.8828-5_8828-4insGGCTCTCACTGA (n.8828-5_8828-4insGGCTCTCACTGA)
c.9326-5_9326-4insGGCTCTCACTGA (n.9326-5_9326-4insGGCTCTCACTGA)
c.6923-5_6923-4insGGCTCTCACTGA (n.6923-5_6923-4insGGCTCTCACTGA)
 dbSNP
2g.237325728_237325729insTCAGTGAGAGCCAATGGTTCTGTGCTCCA2754791277COL6A3c.1710-5_1710-4insGAGCACAGAACCATTGGCTCTCACTGA
c.8711-5_8711-4insGAGCACAGAACCATTGGCTCTCACTGA (n.8711-5_8711-4insGAGCACAGAACCATTGGCTCTCACTGA)
c.1456-5_1456-4insGAGCACAGAACCATTGGCTCTCACTGA
c.195-5_195-4insGAGCACAGAACCATTGGCTCTCACTGA (n.195-5_195-4insGAGCACAGAACCATTGGCTCTCACTGA)
c.9329-5_9329-4insGAGCACAGAACCATTGGCTCTCACTGA (n.9329-5_9329-4insGAGCACAGAACCATTGGCTCTCACTGA)
c.7505-5_7505-4insGAGCACAGAACCATTGGCTCTCACTGA (n.7505-5_7505-4insGAGCACAGAACCATTGGCTCTCACTGA)
c.7508-5_7508-4insGAGCACAGAACCATTGGCTCTCACTGA (n.7508-5_7508-4insGAGCACAGAACCATTGGCTCTCACTGA)
n.4452_4453insGAGCACAGAACCATTGGCTCTCACTGA
n.5771-5_5771-4insGAGCACAGAACCATTGGCTCTCACTGA
c.8729-5_8729-4insGAGCACAGAACCATTGGCTCTCACTGA (n.8729-5_8729-4insGAGCACAGAACCATTGGCTCTCACTGA)
c.8108-5_8108-4insGAGCACAGAACCATTGGCTCTCACTGA (n.8108-5_8108-4insGAGCACAGAACCATTGGCTCTCACTGA)
c.8828-5_8828-4insGAGCACAGAACCATTGGCTCTCACTGA (n.8828-5_8828-4insGAGCACAGAACCATTGGCTCTCACTGA)
c.9326-5_9326-4insGAGCACAGAACCATTGGCTCTCACTGA (n.9326-5_9326-4insGAGCACAGAACCATTGGCTCTCACTGA)
c.6923-5_6923-4insGAGCACAGAACCATTGGCTCTCACTGA (n.6923-5_6923-4insGAGCACAGAACCATTGGCTCTCACTGA)
2g.237325731_237325734dupCA1337602355COL6A3c.1710-8_1710-5dup
c.8711-8_8711-5dup (n.8711-8_8711-5dup)
c.1456-8_1456-5dup
c.195-8_195-5dup (n.195-8_195-5dup)
c.9329-8_9329-5dup (n.9329-8_9329-5dup)
c.7505-8_7505-5dup (n.7505-8_7505-5dup)
c.7508-8_7508-5dup (n.7508-8_7508-5dup)
n.4449_4452dup
n.5771-8_5771-5dup
c.8729-8_8729-5dup (n.8729-8_8729-5dup)
c.8108-8_8108-5dup (n.8108-8_8108-5dup)
c.8828-8_8828-5dup (n.8828-8_8828-5dup)
c.9326-8_9326-5dup (n.9326-8_9326-5dup)
c.6923-8_6923-5dup (n.6923-8_6923-5dup)
 dbSNP gnomAD v4
2g.237325730_237325731delinsATCA1337602356COL6A3c.1710-7_1710-6delinsAT
c.8711-7_8711-6delinsAT (n.8711-7_8711-6delinsAT)
c.1456-7_1456-6delinsAT
c.195-7_195-6delinsAT (n.195-7_195-6delinsAT)
c.9329-7_9329-6delinsAT (n.9329-7_9329-6delinsAT)
c.7505-7_7505-6delinsAT (n.7505-7_7505-6delinsAT)
c.7508-7_7508-6delinsAT (n.7508-7_7508-6delinsAT)
n.4450_4451delinsAT
n.5771-7_5771-6delinsAT
c.8729-7_8729-6delinsAT (n.8729-7_8729-6delinsAT)
c.8108-7_8108-6delinsAT (n.8108-7_8108-6delinsAT)
c.8828-7_8828-6delinsAT (n.8828-7_8828-6delinsAT)
c.9326-7_9326-6delinsAT (n.9326-7_9326-6delinsAT)
c.6923-7_6923-6delinsAT (n.6923-7_6923-6delinsAT)
2g.237325731delCA766636418COL6A3c.1710-7del
c.8711-7del (n.8711-7del)
c.1456-7del
c.195-7del (n.195-7del)
c.9329-7del (n.9329-7del)
c.7505-7del (n.7505-7del)
c.7508-7del (n.7508-7del)
n.4450del
n.5771-7del
c.8729-7del (n.8729-7del)
c.8108-7del (n.8108-7del)
c.8828-7del (n.8828-7del)
c.9326-7del (n.9326-7del)
c.6923-7del (n.6923-7del)
 dbSNP
2g.237325731T>ACA2187292COL6A3c.1710-7A>T
c.8711-7A>T (n.8711-7A>T)
c.1456-7A>T
c.195-7A>T (n.195-7A>T)
c.9329-7A>T (n.9329-7A>T)
c.7505-7A>T (n.7505-7A>T)
c.7508-7A>T (n.7508-7A>T)
n.4450A>T
n.5771-7A>T
c.8729-7A>T (n.8729-7A>T)
c.8108-7A>T (n.8108-7A>T)
c.8828-7A>T (n.8828-7A>T)
c.9326-7A>T (n.9326-7A>T)
c.6923-7A>T (n.6923-7A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325731T>CCA2663789456COL6A3c.1710-7A>G
c.8711-7A>G (n.8711-7A>G)
c.1456-7A>G
c.195-7A>G (n.195-7A>G)
c.9329-7A>G (n.9329-7A>G)
c.7505-7A>G (n.7505-7A>G)
c.7508-7A>G (n.7508-7A>G)
n.4450A>G
n.5771-7A>G
c.8729-7A>G (n.8729-7A>G)
c.8108-7A>G (n.8108-7A>G)
c.8828-7A>G (n.8828-7A>G)
c.9326-7A>G (n.9326-7A>G)
c.6923-7A>G (n.6923-7A>G)
 gnomAD v4
2g.237325731T=CA1337602357COL6A3c.1710-7A=
c.8711-7A= (n.8711-7A=)
c.1456-7A=
c.195-7A= (n.195-7A=)
c.9329-7A= (n.9329-7A=)
c.7505-7A= (n.7505-7A=)
c.7508-7A= (n.7508-7A=)
n.4450A=
n.5771-7A=
c.8729-7A= (n.8729-7A=)
c.8108-7A= (n.8108-7A=)
c.8828-7A= (n.8828-7A=)
c.9326-7A= (n.9326-7A=)
c.6923-7A= (n.6923-7A=)
2g.237325731_237325732insGGTTCTGTGCTCACCATTAGATTGATGGTTGCA1337602358COL6A3c.1710-8_1710-7insCAACCATCAATCTAATGGTGAGCACAGAACC
c.8711-8_8711-7insCAACCATCAATCTAATGGTGAGCACAGAACC (n.8711-8_8711-7insCAACCATCAATCTAATGGTGAGCACAGAACC)
c.1456-8_1456-7insCAACCATCAATCTAATGGTGAGCACAGAACC
c.195-8_195-7insCAACCATCAATCTAATGGTGAGCACAGAACC (n.195-8_195-7insCAACCATCAATCTAATGGTGAGCACAGAACC)
c.9329-8_9329-7insCAACCATCAATCTAATGGTGAGCACAGAACC (n.9329-8_9329-7insCAACCATCAATCTAATGGTGAGCACAGAACC)
c.7505-8_7505-7insCAACCATCAATCTAATGGTGAGCACAGAACC (n.7505-8_7505-7insCAACCATCAATCTAATGGTGAGCACAGAACC)
c.7508-8_7508-7insCAACCATCAATCTAATGGTGAGCACAGAACC (n.7508-8_7508-7insCAACCATCAATCTAATGGTGAGCACAGAACC)
n.4449_4450insCAACCATCAATCTAATGGTGAGCACAGAACC
n.5771-8_5771-7insCAACCATCAATCTAATGGTGAGCACAGAACC
c.8729-8_8729-7insCAACCATCAATCTAATGGTGAGCACAGAACC (n.8729-8_8729-7insCAACCATCAATCTAATGGTGAGCACAGAACC)
c.8108-8_8108-7insCAACCATCAATCTAATGGTGAGCACAGAACC (n.8108-8_8108-7insCAACCATCAATCTAATGGTGAGCACAGAACC)
c.8828-8_8828-7insCAACCATCAATCTAATGGTGAGCACAGAACC (n.8828-8_8828-7insCAACCATCAATCTAATGGTGAGCACAGAACC)
c.9326-8_9326-7insCAACCATCAATCTAATGGTGAGCACAGAACC (n.9326-8_9326-7insCAACCATCAATCTAATGGTGAGCACAGAACC)
c.6923-8_6923-7insCAACCATCAATCTAATGGTGAGCACAGAACC (n.6923-8_6923-7insCAACCATCAATCTAATGGTGAGCACAGAACC)
 dbSNP
2g.237325732A=CA1337602359COL6A3c.1710-8T=
c.8711-8T= (n.8711-8T=)
c.1456-8T=
c.195-8T= (n.195-8T=)
c.9329-8T= (n.9329-8T=)
c.7505-8T= (n.7505-8T=)
c.7508-8T= (n.7508-8T=)
n.4449T=
n.5771-8T=
c.8729-8T= (n.8729-8T=)
c.8108-8T= (n.8108-8T=)
c.8828-8T= (n.8828-8T=)
c.9326-8T= (n.9326-8T=)
c.6923-8T= (n.6923-8T=)
2g.237325732A>GCA2187293COL6A3c.1710-8T>C
c.8711-8T>C (n.8711-8T>C)
c.1456-8T>C
c.195-8T>C (n.195-8T>C)
c.9329-8T>C (n.9329-8T>C)
c.7505-8T>C (n.7505-8T>C)
c.7508-8T>C (n.7508-8T>C)
n.4449T>C
n.5771-8T>C
c.8729-8T>C (n.8729-8T>C)
c.8108-8T>C (n.8108-8T>C)
c.8828-8T>C (n.8828-8T>C)
c.9326-8T>C (n.9326-8T>C)
c.6923-8T>C (n.6923-8T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237325733A=CA1337602360COL6A3c.1710-9T=
c.8711-9T= (n.8711-9T=)
c.1456-9T=
c.195-9T= (n.195-9T=)
c.9329-9T= (n.9329-9T=)
c.7505-9T= (n.7505-9T=)
c.7508-9T= (n.7508-9T=)
n.4448T=
n.5771-9T=
c.8729-9T= (n.8729-9T=)
c.8108-9T= (n.8108-9T=)
c.8828-9T= (n.8828-9T=)
c.9326-9T= (n.9326-9T=)
c.6923-9T= (n.6923-9T=)
2g.237325733_237325734insCTAGCA1337602362COL6A3c.1710-10_1710-9insCTAG
c.8711-10_8711-9insCTAG (n.8711-10_8711-9insCTAG)
c.1456-10_1456-9insCTAG
c.195-10_195-9insCTAG (n.195-10_195-9insCTAG)
c.9329-10_9329-9insCTAG (n.9329-10_9329-9insCTAG)
c.7505-10_7505-9insCTAG (n.7505-10_7505-9insCTAG)
c.7508-10_7508-9insCTAG (n.7508-10_7508-9insCTAG)
n.4447_4448insCTAG
n.5771-10_5771-9insCTAG
c.8729-10_8729-9insCTAG (n.8729-10_8729-9insCTAG)
c.8108-10_8108-9insCTAG (n.8108-10_8108-9insCTAG)
c.8828-10_8828-9insCTAG (n.8828-10_8828-9insCTAG)
c.9326-10_9326-9insCTAG (n.9326-10_9326-9insCTAG)
c.6923-10_6923-9insCTAG (n.6923-10_6923-9insCTAG)
 dbSNP
2g.237325734A=CA1337602361COL6A3c.1710-10T=
c.8711-10T= (n.8711-10T=)
c.1456-10T=
c.195-10T= (n.195-10T=)
c.9329-10T= (n.9329-10T=)
c.7505-10T= (n.7505-10T=)
c.7508-10T= (n.7508-10T=)
n.4447T=
n.5771-10T=
c.8729-10T= (n.8729-10T=)
c.8108-10T= (n.8108-10T=)
c.8828-10T= (n.8828-10T=)
c.9326-10T= (n.9326-10T=)
c.6923-10T= (n.6923-10T=)
2g.237325734A>CCA1337602363COL6A3c.1710-10T>G
c.8711-10T>G (n.8711-10T>G)
c.1456-10T>G
c.195-10T>G (n.195-10T>G)
c.9329-10T>G (n.9329-10T>G)
c.7505-10T>G (n.7505-10T>G)
c.7508-10T>G (n.7508-10T>G)
n.4447T>G
n.5771-10T>G
c.8729-10T>G (n.8729-10T>G)
c.8108-10T>G (n.8108-10T>G)
c.8828-10T>G (n.8828-10T>G)
c.9326-10T>G (n.9326-10T>G)
c.6923-10T>G (n.6923-10T>G)
 dbSNP gnomAD v4
2g.237325736A>GCA431674684COL6A3c.1710-12T>C
c.8711-12T>C (n.8711-12T>C)
c.1456-12T>C
c.195-12T>C (n.195-12T>C)
c.9329-12T>C (n.9329-12T>C)
c.7505-12T>C (n.7505-12T>C)
c.7508-12T>C (n.7508-12T>C)
n.4445T>C
n.5771-12T>C
c.8729-12T>C (n.8729-12T>C)
c.8108-12T>C (n.8108-12T>C)
c.8828-12T>C (n.8828-12T>C)
c.9326-12T>C (n.9326-12T>C)
c.6923-12T>C (n.6923-12T>C)
2g.237325737C=CA1337602364COL6A3c.1710-13G=
c.8711-13G= (n.8711-13G=)
c.1456-13G=
c.195-13G= (n.195-13G=)
c.9329-13G= (n.9329-13G=)
c.7505-13G= (n.7505-13G=)
c.7508-13G= (n.7508-13G=)
n.4444G=
n.5771-13G=
c.8729-13G= (n.8729-13G=)
c.8108-13G= (n.8108-13G=)
c.8828-13G= (n.8828-13G=)
c.9326-13G= (n.9326-13G=)
c.6923-13G= (n.6923-13G=)
2g.237325737C>TCA540460352COL6A3c.1710-13G>A
c.8711-13G>A (n.8711-13G>A)
c.1456-13G>A
c.195-13G>A (n.195-13G>A)
c.9329-13G>A (n.9329-13G>A)
c.7505-13G>A (n.7505-13G>A)
c.7508-13G>A (n.7508-13G>A)
n.4444G>A
n.5771-13G>A
c.8729-13G>A (n.8729-13G>A)
c.8108-13G>A (n.8108-13G>A)
c.8828-13G>A (n.8828-13G>A)
c.9326-13G>A (n.9326-13G>A)
c.6923-13G>A (n.6923-13G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.237325738A=CA1337602365COL6A3c.1710-14T=
c.8711-14T= (n.8711-14T=)
c.1456-14T=
c.195-14T= (n.195-14T=)
c.9329-14T= (n.9329-14T=)
c.7505-14T= (n.7505-14T=)
c.7508-14T= (n.7508-14T=)
n.4443T=
n.5771-14T=
c.8729-14T= (n.8729-14T=)
c.8108-14T= (n.8108-14T=)
c.8828-14T= (n.8828-14T=)
c.9326-14T= (n.9326-14T=)
c.6923-14T= (n.6923-14T=)
2g.237325738A>GCA2701629877COL6A3c.1710-14T>C
c.8711-14T>C (n.8711-14T>C)
c.1456-14T>C
c.195-14T>C (n.195-14T>C)
c.9329-14T>C (n.9329-14T>C)
c.7505-14T>C (n.7505-14T>C)
c.7508-14T>C (n.7508-14T>C)
n.4443T>C
n.5771-14T>C
c.8729-14T>C (n.8729-14T>C)
c.8108-14T>C (n.8108-14T>C)
c.8828-14T>C (n.8828-14T>C)
c.9326-14T>C (n.9326-14T>C)
c.6923-14T>C (n.6923-14T>C)
 dbSNP
2g.237325738A>TCA2187294COL6A3c.1710-14T>A
c.8711-14T>A (n.8711-14T>A)
c.1456-14T>A
c.195-14T>A (n.195-14T>A)
c.9329-14T>A (n.9329-14T>A)
c.7505-14T>A (n.7505-14T>A)
c.7508-14T>A (n.7508-14T>A)
n.4443T>A
n.5771-14T>A
c.8729-14T>A (n.8729-14T>A)
c.8108-14T>A (n.8108-14T>A)
c.8828-14T>A (n.8828-14T>A)
c.9326-14T>A (n.9326-14T>A)
c.6923-14T>A (n.6923-14T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237325739T>ACA1337602367COL6A3c.1710-15A>T
c.8711-15A>T (n.8711-15A>T)
c.1456-15A>T
c.195-15A>T (n.195-15A>T)
c.9329-15A>T (n.9329-15A>T)
c.7505-15A>T (n.7505-15A>T)
c.7508-15A>T (n.7508-15A>T)
n.4442A>T
n.5771-15A>T
c.8729-15A>T (n.8729-15A>T)
c.8108-15A>T (n.8108-15A>T)
c.8828-15A>T (n.8828-15A>T)
c.9326-15A>T (n.9326-15A>T)
c.6923-15A>T (n.6923-15A>T)
 dbSNP
2g.237325739T>CCA1337602368COL6A3c.1710-15A>G
c.8711-15A>G (n.8711-15A>G)
c.1456-15A>G
c.195-15A>G (n.195-15A>G)
c.9329-15A>G (n.9329-15A>G)
c.7505-15A>G (n.7505-15A>G)
c.7508-15A>G (n.7508-15A>G)
n.4442A>G
n.5771-15A>G
c.8729-15A>G (n.8729-15A>G)
c.8108-15A>G (n.8108-15A>G)
c.8828-15A>G (n.8828-15A>G)
c.9326-15A>G (n.9326-15A>G)
c.6923-15A>G (n.6923-15A>G)
 dbSNP gnomAD v4
2g.237325739T>GCA2701664166COL6A3c.1710-15A>C
c.8711-15A>C (n.8711-15A>C)
c.1456-15A>C
c.195-15A>C (n.195-15A>C)
c.9329-15A>C (n.9329-15A>C)
c.7505-15A>C (n.7505-15A>C)
c.7508-15A>C (n.7508-15A>C)
n.4442A>C
n.5771-15A>C
c.8729-15A>C (n.8729-15A>C)
c.8108-15A>C (n.8108-15A>C)
c.8828-15A>C (n.8828-15A>C)
c.9326-15A>C (n.9326-15A>C)
c.6923-15A>C (n.6923-15A>C)
 dbSNP
2g.237325739T=CA1337602366COL6A3c.1710-15A=
c.8711-15A= (n.8711-15A=)
c.1456-15A=
c.195-15A= (n.195-15A=)
c.9329-15A= (n.9329-15A=)
c.7505-15A= (n.7505-15A=)
c.7508-15A= (n.7508-15A=)
n.4442A=
n.5771-15A=
c.8729-15A= (n.8729-15A=)
c.8108-15A= (n.8108-15A=)
c.8828-15A= (n.8828-15A=)
c.9326-15A= (n.9326-15A=)
c.6923-15A= (n.6923-15A=)
2g.237325740G>ACA2754791278COL6A3c.1710-16C>T
c.8711-16C>T (n.8711-16C>T)
c.1456-16C>T
c.195-16C>T (n.195-16C>T)
c.9329-16C>T (n.9329-16C>T)
c.7505-16C>T (n.7505-16C>T)
c.7508-16C>T (n.7508-16C>T)
n.4441C>T
n.5771-16C>T
c.8729-16C>T (n.8729-16C>T)
c.8108-16C>T (n.8108-16C>T)
c.8828-16C>T (n.8828-16C>T)
c.9326-16C>T (n.9326-16C>T)
c.6923-16C>T (n.6923-16C>T)
2g.237325742G>ACA540460353COL6A3c.1710-18C>T
c.8711-18C>T (n.8711-18C>T)
c.1456-18C>T
c.195-18C>T (n.195-18C>T)
c.9329-18C>T (n.9329-18C>T)
c.7505-18C>T (n.7505-18C>T)
c.7508-18C>T (n.7508-18C>T)
n.4439C>T
n.5771-18C>T
c.8729-18C>T (n.8729-18C>T)
c.8108-18C>T (n.8108-18C>T)
c.8828-18C>T (n.8828-18C>T)
c.9326-18C>T (n.9326-18C>T)
c.6923-18C>T (n.6923-18C>T)
 dbSNP gnomAD v2
2g.237325742G>CCA1337602370COL6A3c.1710-18C>G
c.8711-18C>G (n.8711-18C>G)
c.1456-18C>G
c.195-18C>G (n.195-18C>G)
c.9329-18C>G (n.9329-18C>G)
c.7505-18C>G (n.7505-18C>G)
c.7508-18C>G (n.7508-18C>G)
n.4439C>G
n.5771-18C>G
c.8729-18C>G (n.8729-18C>G)
c.8108-18C>G (n.8108-18C>G)
c.8828-18C>G (n.8828-18C>G)
c.9326-18C>G (n.9326-18C>G)
c.6923-18C>G (n.6923-18C>G)
 dbSNP
2g.237325742G=CA1337602369COL6A3c.1710-18C=
c.8711-18C= (n.8711-18C=)
c.1456-18C=
c.195-18C= (n.195-18C=)
c.9329-18C= (n.9329-18C=)
c.7505-18C= (n.7505-18C=)
c.7508-18C= (n.7508-18C=)
n.4439C=
n.5771-18C=
c.8729-18C= (n.8729-18C=)
c.8108-18C= (n.8108-18C=)
c.8828-18C= (n.8828-18C=)
c.9326-18C= (n.9326-18C=)
c.6923-18C= (n.6923-18C=)
2g.237325742G>TCA2187295COL6A3c.1710-18C>A
c.8711-18C>A (n.8711-18C>A)
c.1456-18C>A
c.195-18C>A (n.195-18C>A)
c.9329-18C>A (n.9329-18C>A)
c.7505-18C>A (n.7505-18C>A)
c.7508-18C>A (n.7508-18C>A)
n.4439C>A
n.5771-18C>A
c.8729-18C>A (n.8729-18C>A)
c.8108-18C>A (n.8108-18C>A)
c.8828-18C>A (n.8828-18C>A)
c.9326-18C>A (n.9326-18C>A)
c.6923-18C>A (n.6923-18C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325743A>GCA2663789458COL6A3c.1710-19T>C
c.8711-19T>C (n.8711-19T>C)
c.1456-19T>C
c.195-19T>C (n.195-19T>C)
c.9329-19T>C (n.9329-19T>C)
c.7505-19T>C (n.7505-19T>C)
c.7508-19T>C (n.7508-19T>C)
n.4438T>C
n.5771-19T>C
c.8729-19T>C (n.8729-19T>C)
c.8108-19T>C (n.8108-19T>C)
c.8828-19T>C (n.8828-19T>C)
c.9326-19T>C (n.9326-19T>C)
c.6923-19T>C (n.6923-19T>C)
 gnomAD v4
2g.237325746delCA2663789457COL6A3c.1710-19del
c.8711-19del (n.8711-19del)
c.1456-19del
c.195-19del (n.195-19del)
c.9329-19del (n.9329-19del)
c.7505-19del (n.7505-19del)
c.7508-19del (n.7508-19del)
n.4438del
n.5771-19del
c.8729-19del (n.8729-19del)
c.8108-19del (n.8108-19del)
c.8828-19del (n.8828-19del)
c.9326-19del (n.9326-19del)
c.6923-19del (n.6923-19del)
 gnomAD v4
2g.237325746A>GCA2663789459COL6A3c.1710-22T>C
c.8711-22T>C (n.8711-22T>C)
c.1456-22T>C
c.195-22T>C (n.195-22T>C)
c.9329-22T>C (n.9329-22T>C)
c.7505-22T>C (n.7505-22T>C)
c.7508-22T>C (n.7508-22T>C)
n.4435T>C
n.5771-22T>C
c.8729-22T>C (n.8729-22T>C)
c.8108-22T>C (n.8108-22T>C)
c.8828-22T>C (n.8828-22T>C)
c.9326-22T>C (n.9326-22T>C)
c.6923-22T>C (n.6923-22T>C)
 gnomAD v4
2g.237325747G>ACA67823282COL6A3c.1710-23C>T
c.8711-23C>T (n.8711-23C>T)
c.1456-23C>T
c.195-23C>T (n.195-23C>T)
c.9329-23C>T (n.9329-23C>T)
c.7505-23C>T (n.7505-23C>T)
c.7508-23C>T (n.7508-23C>T)
n.4434C>T
n.5771-23C>T
c.8729-23C>T (n.8729-23C>T)
c.8108-23C>T (n.8108-23C>T)
c.8828-23C>T (n.8828-23C>T)
c.9326-23C>T (n.9326-23C>T)
c.6923-23C>T (n.6923-23C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.237325747G=CA1337602371COL6A3c.1710-23C=
c.8711-23C= (n.8711-23C=)
c.1456-23C=
c.195-23C= (n.195-23C=)
c.9329-23C= (n.9329-23C=)
c.7505-23C= (n.7505-23C=)
c.7508-23C= (n.7508-23C=)
n.4434C=
n.5771-23C=
c.8729-23C= (n.8729-23C=)
c.8108-23C= (n.8108-23C=)
c.8828-23C= (n.8828-23C=)
c.9326-23C= (n.9326-23C=)
c.6923-23C= (n.6923-23C=)
2g.237325747G>TCA2663789460COL6A3c.1710-23C>A
c.8711-23C>A (n.8711-23C>A)
c.1456-23C>A
c.195-23C>A (n.195-23C>A)
c.9329-23C>A (n.9329-23C>A)
c.7505-23C>A (n.7505-23C>A)
c.7508-23C>A (n.7508-23C>A)
n.4434C>A
n.5771-23C>A
c.8729-23C>A (n.8729-23C>A)
c.8108-23C>A (n.8108-23C>A)
c.8828-23C>A (n.8828-23C>A)
c.9326-23C>A (n.9326-23C>A)
c.6923-23C>A (n.6923-23C>A)
 gnomAD v4
2g.237325748G>ACA2663789461COL6A3c.1710-24C>T
c.8711-24C>T (n.8711-24C>T)
c.1456-24C>T
c.195-24C>T (n.195-24C>T)
c.9329-24C>T (n.9329-24C>T)
c.7505-24C>T (n.7505-24C>T)
c.7508-24C>T (n.7508-24C>T)
n.4433C>T
n.5771-24C>T
c.8729-24C>T (n.8729-24C>T)
c.8108-24C>T (n.8108-24C>T)
c.8828-24C>T (n.8828-24C>T)
c.9326-24C>T (n.9326-24C>T)
c.6923-24C>T (n.6923-24C>T)
 gnomAD v4
2g.237325748G>TCA2663789462COL6A3c.1710-24C>A
c.8711-24C>A (n.8711-24C>A)
c.1456-24C>A
c.195-24C>A (n.195-24C>A)
c.9329-24C>A (n.9329-24C>A)
c.7505-24C>A (n.7505-24C>A)
c.7508-24C>A (n.7508-24C>A)
n.4433C>A
n.5771-24C>A
c.8729-24C>A (n.8729-24C>A)
c.8108-24C>A (n.8108-24C>A)
c.8828-24C>A (n.8828-24C>A)
c.9326-24C>A (n.9326-24C>A)
c.6923-24C>A (n.6923-24C>A)
 gnomAD v4
2g.237325751A=CA1337602372COL6A3c.1710-27T=
c.8711-27T= (n.8711-27T=)
c.1456-27T=
c.195-27T= (n.195-27T=)
c.9329-27T= (n.9329-27T=)
c.7505-27T= (n.7505-27T=)
c.7508-27T= (n.7508-27T=)
n.4430T=
n.5771-27T=
c.8729-27T= (n.8729-27T=)
c.8108-27T= (n.8108-27T=)
c.8828-27T= (n.8828-27T=)
c.9326-27T= (n.9326-27T=)
c.6923-27T= (n.6923-27T=)
2g.237325751A>GCA540460355COL6A3c.1710-27T>C
c.8711-27T>C (n.8711-27T>C)
c.1456-27T>C
c.195-27T>C (n.195-27T>C)
c.9329-27T>C (n.9329-27T>C)
c.7505-27T>C (n.7505-27T>C)
c.7508-27T>C (n.7508-27T>C)
n.4430T>C
n.5771-27T>C
c.8729-27T>C (n.8729-27T>C)
c.8108-27T>C (n.8108-27T>C)
c.8828-27T>C (n.8828-27T>C)
c.9326-27T>C (n.9326-27T>C)
c.6923-27T>C (n.6923-27T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237325756T>ACA1337602374COL6A3c.1710-32A>T
c.8711-32A>T (n.8711-32A>T)
c.1456-32A>T
c.195-32A>T (n.195-32A>T)
c.9329-32A>T (n.9329-32A>T)
c.7505-32A>T (n.7505-32A>T)
c.7508-32A>T (n.7508-32A>T)
n.4425A>T
n.5771-32A>T
c.8729-32A>T (n.8729-32A>T)
c.8108-32A>T (n.8108-32A>T)
c.8828-32A>T (n.8828-32A>T)
c.9326-32A>T (n.9326-32A>T)
c.6923-32A>T (n.6923-32A>T)
 dbSNP gnomAD v4
2g.237325756T>CCA2187296COL6A3c.1710-32A>G
c.8711-32A>G (n.8711-32A>G)
c.1456-32A>G
c.195-32A>G (n.195-32A>G)
c.9329-32A>G (n.9329-32A>G)
c.7505-32A>G (n.7505-32A>G)
c.7508-32A>G (n.7508-32A>G)
n.4425A>G
n.5771-32A>G
c.8729-32A>G (n.8729-32A>G)
c.8108-32A>G (n.8108-32A>G)
c.8828-32A>G (n.8828-32A>G)
c.9326-32A>G (n.9326-32A>G)
c.6923-32A>G (n.6923-32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325756T=CA1337602373COL6A3c.1710-32A=
c.8711-32A= (n.8711-32A=)
c.1456-32A=
c.195-32A= (n.195-32A=)
c.9329-32A= (n.9329-32A=)
c.7505-32A= (n.7505-32A=)
c.7508-32A= (n.7508-32A=)
n.4425A=
n.5771-32A=
c.8729-32A= (n.8729-32A=)
c.8108-32A= (n.8108-32A=)
c.8828-32A= (n.8828-32A=)
c.9326-32A= (n.9326-32A=)
c.6923-32A= (n.6923-32A=)
2g.237325757G>ACA222671COL6A3c.1710-33C>T
c.8711-33C>T (n.8711-33C>T)
c.1456-33C>T
c.195-33C>T (n.195-33C>T)
c.9329-33C>T (n.9329-33C>T)
c.7505-33C>T (n.7505-33C>T)
c.7508-33C>T (n.7508-33C>T)
n.4424C>T
n.5771-33C>T
c.8729-33C>T (n.8729-33C>T)
c.8108-33C>T (n.8108-33C>T)
c.8828-33C>T (n.8828-33C>T)
c.9326-33C>T (n.9326-33C>T)
c.6923-33C>T (n.6923-33C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237325757G=CA1337602375COL6A3c.1710-33C=
c.8711-33C= (n.8711-33C=)
c.1456-33C=
c.195-33C= (n.195-33C=)
c.9329-33C= (n.9329-33C=)
c.7505-33C= (n.7505-33C=)
c.7508-33C= (n.7508-33C=)
n.4424C=
n.5771-33C=
c.8729-33C= (n.8729-33C=)
c.8108-33C= (n.8108-33C=)
c.8828-33C= (n.8828-33C=)
c.9326-33C= (n.9326-33C=)
c.6923-33C= (n.6923-33C=)

Number of alleles fetched