Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237336328_237336342dupCA2580066110COL6A3c.1403_1417dup
c.8140_8154dup (p.Ala2718_Thr2719insAlaLysProValAla)
c.885_899dup
n.1025_1039dup
c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla)
c.6934_6948dup (p.Ala2316_Thr2317insAlaLysProValAla)
c.6937_6951dup (p.Ala2317_Thr2318insAlaLysProValAla)
n.5200_5214dup
c.8158_8172dup (p.Ala2724_Thr2725insAlaLysProValAla)
c.7537_7551dup (p.Ala2517_Thr2518insAlaLysProValAla)
c.8257_8271dup (p.Ala2757_Thr2758insAlaLysProValAla)
c.8755_8769dup (p.Ala2923_Thr2924insAlaLysProValAla)
c.6352_6366dup (p.Ala2122_Thr2123insAlaLysProValAla)
 ClinVar
2g.237336328_237336343delinsGGCCACAGGCTTGGCACA1337607139COL6A3c.1402_1417delinsTGCCAAGCCTGTGGCC
c.8139_8154delinsTGCCAAGCCTGTGGCC (p.Ala2713=)
c.884_899delinsTGCCAAGCCTGTGGCC
n.1024_1039delinsTGCCAAGCCTGTGGCC
c.8757_8772delinsTGCCAAGCCTGTGGCC (p.Ala2919=)
c.6933_6948delinsTGCCAAGCCTGTGGCC (p.Ala2311=)
c.6936_6951delinsTGCCAAGCCTGTGGCC (p.Ala2312=)
n.5199_5214delinsTGCCAAGCCTGTGGCC
c.8157_8172delinsTGCCAAGCCTGTGGCC (p.Ala2719=)
c.7536_7551delinsTGCCAAGCCTGTGGCC (p.Ala2512=)
c.8256_8271delinsTGCCAAGCCTGTGGCC (p.Ala2752=)
c.8754_8769delinsTGCCAAGCCTGTGGCC (p.Ala2918=)
c.6351_6366delinsTGCCAAGCCTGTGGCC (p.Ala2117=)
2g.237336337_237336351delCA2187447COL6A3c.1402_1416del
c.8139_8153del (p.Ala2714_Ala2718del)
c.884_898del
n.1024_1038del
c.8757_8771del (p.Ala2920_Ala2924del)
c.6933_6947del (p.Ala2312_Ala2316del)
c.6936_6950del (p.Ala2313_Ala2317del)
n.5199_5213del
c.8157_8171del (p.Ala2720_Ala2724del)
c.7536_7550del (p.Ala2513_Ala2517del)
c.8256_8270del (p.Ala2753_Ala2757del)
c.8754_8768del (p.Ala2919_Ala2923del)
c.6351_6365del (p.Ala2118_Ala2122del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336334A=CA1337607141COL6A3c.1411T=
c.8148T= (p.Pro2716=)
c.893T=
n.1033T=
c.8766T= (p.Pro2922=)
c.6942T= (p.Pro2314=)
c.6945T= (p.Pro2315=)
n.5208T=
c.8166T= (p.Pro2722=)
c.7545T= (p.Pro2515=)
c.8265T= (p.Pro2755=)
c.8763T= (p.Pro2921=)
c.6360T= (p.Pro2120=)
2g.237336334A>CCA431701895COL6A3c.1411T>G
c.8148T>G (p.Pro2716=)
c.893T>G
n.1033T>G
c.8766T>G (p.Pro2922=)
c.6942T>G (p.Pro2314=)
c.6945T>G (p.Pro2315=)
n.5208T>G
c.8166T>G (p.Pro2722=)
c.7545T>G (p.Pro2515=)
c.8265T>G (p.Pro2755=)
c.8763T>G (p.Pro2921=)
c.6360T>G (p.Pro2120=)
2g.237336334A>GCA431701898COL6A3c.1411T>C
c.8148T>C (p.Pro2716=)
c.893T>C
n.1033T>C
c.8766T>C (p.Pro2922=)
c.6942T>C (p.Pro2314=)
c.6945T>C (p.Pro2315=)
n.5208T>C
c.8166T>C (p.Pro2722=)
c.7545T>C (p.Pro2515=)
c.8265T>C (p.Pro2755=)
c.8763T>C (p.Pro2921=)
c.6360T>C (p.Pro2120=)
 dbSNP gnomAD v4
2g.237336334A>TCA431701899COL6A3c.1411T>A
c.8148T>A (p.Pro2716=)
c.893T>A
n.1033T>A
c.8766T>A (p.Pro2922=)
c.6942T>A (p.Pro2314=)
c.6945T>A (p.Pro2315=)
n.5208T>A
c.8166T>A (p.Pro2722=)
c.7545T>A (p.Pro2515=)
c.8265T>A (p.Pro2755=)
c.8763T>A (p.Pro2921=)
c.6360T>A (p.Pro2120=)
2g.237336335G>ACA351191650COL6A3c.1410C>T
c.8147C>T (p.Pro2716Leu)
c.892C>T
n.1032C>T
c.8765C>T (p.Pro2922Leu)
c.6941C>T (p.Pro2314Leu)
c.6944C>T (p.Pro2315Leu)
n.5207C>T
c.8165C>T (p.Pro2722Leu)
c.7544C>T (p.Pro2515Leu)
c.8264C>T (p.Pro2755Leu)
c.8762C>T (p.Pro2921Leu)
c.6359C>T (p.Pro2120Leu)
 gnomAD v4 COSMIC
2g.237336335G>CCA351191653COL6A3c.1410C>G
c.8147C>G (p.Pro2716Arg)
c.892C>G
n.1032C>G
c.8765C>G (p.Pro2922Arg)
c.6941C>G (p.Pro2314Arg)
c.6944C>G (p.Pro2315Arg)
n.5207C>G
c.8165C>G (p.Pro2722Arg)
c.7544C>G (p.Pro2515Arg)
c.8264C>G (p.Pro2755Arg)
c.8762C>G (p.Pro2921Arg)
c.6359C>G (p.Pro2120Arg)
2g.237336335G>TCA351191652COL6A3c.1410C>A
c.8147C>A (p.Pro2716His)
c.892C>A
n.1032C>A
c.8765C>A (p.Pro2922His)
c.6941C>A (p.Pro2314His)
c.6944C>A (p.Pro2315His)
n.5207C>A
c.8165C>A (p.Pro2722His)
c.7544C>A (p.Pro2515His)
c.8264C>A (p.Pro2755His)
c.8762C>A (p.Pro2921His)
c.6359C>A (p.Pro2120His)
2g.237336336dupCA916807165COL6A3c.1410dup
c.8147dup (p.Val2717CysfsTer9)
c.892dup
n.1032dup
c.8765dup (p.Val2923CysfsTer9)
c.6941dup (p.Val2315CysfsTer9)
c.6944dup (p.Val2316CysfsTer9)
n.5207dup
c.8165dup (p.Val2723CysfsTer9)
c.7544dup (p.Val2516CysfsTer9)
c.8264dup (p.Val2756CysfsTer9)
c.8762dup (p.Val2922CysfsTer9)
c.6359dup (p.Val2121CysfsTer9)
 dbSNP
2g.237336336G>ACA351191655COL6A3c.1409C>T
c.8146C>T (p.Pro2716Ser)
c.891C>T
n.1031C>T
c.8764C>T (p.Pro2922Ser)
c.6940C>T (p.Pro2314Ser)
c.6943C>T (p.Pro2315Ser)
n.5206C>T
c.8164C>T (p.Pro2722Ser)
c.7543C>T (p.Pro2515Ser)
c.8263C>T (p.Pro2755Ser)
c.8761C>T (p.Pro2921Ser)
c.6358C>T (p.Pro2120Ser)
 ClinVar
2g.237336336G>CCA351191657COL6A3c.1409C>G
c.8146C>G (p.Pro2716Ala)
c.891C>G
n.1031C>G
c.8764C>G (p.Pro2922Ala)
c.6940C>G (p.Pro2314Ala)
c.6943C>G (p.Pro2315Ala)
n.5206C>G
c.8164C>G (p.Pro2722Ala)
c.7543C>G (p.Pro2515Ala)
c.8263C>G (p.Pro2755Ala)
c.8761C>G (p.Pro2921Ala)
c.6358C>G (p.Pro2120Ala)
2g.237336336G>TCA351191656COL6A3c.1409C>A
c.8146C>A (p.Pro2716Thr)
c.891C>A
n.1031C>A
c.8764C>A (p.Pro2922Thr)
c.6940C>A (p.Pro2314Thr)
c.6943C>A (p.Pro2315Thr)
n.5206C>A
c.8164C>A (p.Pro2722Thr)
c.7543C>A (p.Pro2515Thr)
c.8263C>A (p.Pro2755Thr)
c.8761C>A (p.Pro2921Thr)
c.6358C>A (p.Pro2120Thr)
2g.237336336_237336346delCA2663792159COL6A3c.1399_1409del
c.8136_8146del (p.Ala2713CysfsTer9)
c.881_891del
n.1021_1031del
c.8754_8764del (p.Ala2919CysfsTer9)
c.6930_6940del (p.Ala2311CysfsTer9)
c.6933_6943del (p.Ala2312CysfsTer9)
n.5196_5206del
c.8154_8164del (p.Ala2719CysfsTer9)
c.7533_7543del (p.Ala2512CysfsTer9)
c.8253_8263del (p.Ala2752CysfsTer9)
c.8751_8761del (p.Ala2918CysfsTer9)
c.6348_6358del (p.Ala2117CysfsTer9)
 gnomAD v4
2g.237336337C>ACA351191658COL6A3c.1408G>T
c.8145G>T (p.Lys2715Asn)
c.890G>T
n.1030G>T
c.8763G>T (p.Lys2921Asn)
c.6939G>T (p.Lys2313Asn)
c.6942G>T (p.Lys2314Asn)
n.5205G>T
c.8163G>T (p.Lys2721Asn)
c.7542G>T (p.Lys2514Asn)
c.8262G>T (p.Lys2754Asn)
c.8760G>T (p.Lys2920Asn)
c.6357G>T (p.Lys2119Asn)
 gnomAD v4
2g.237336337C=CA1337607142COL6A3c.1408G=
c.8145G= (p.Lys2715=)
c.890G=
n.1030G=
c.8763G= (p.Lys2921=)
c.6939G= (p.Lys2313=)
c.6942G= (p.Lys2314=)
n.5205G=
c.8163G= (p.Lys2721=)
c.7542G= (p.Lys2514=)
c.8262G= (p.Lys2754=)
c.8760G= (p.Lys2920=)
c.6357G= (p.Lys2119=)
2g.237336337C>GCA351191659COL6A3c.1408G>C
c.8145G>C (p.Lys2715Asn)
c.890G>C
n.1030G>C
c.8763G>C (p.Lys2921Asn)
c.6939G>C (p.Lys2313Asn)
c.6942G>C (p.Lys2314Asn)
n.5205G>C
c.8163G>C (p.Lys2721Asn)
c.7542G>C (p.Lys2514Asn)
c.8262G>C (p.Lys2754Asn)
c.8760G>C (p.Lys2920Asn)
c.6357G>C (p.Lys2119Asn)
2g.237336337C>TCA431701918COL6A3c.1408G>A
c.8145G>A (p.Lys2715=)
c.890G>A
n.1030G>A
c.8763G>A (p.Lys2921=)
c.6939G>A (p.Lys2313=)
c.6942G>A (p.Lys2314=)
n.5205G>A
c.8163G>A (p.Lys2721=)
c.7542G>A (p.Lys2514=)
c.8262G>A (p.Lys2754=)
c.8760G>A (p.Lys2920=)
c.6357G>A (p.Lys2119=)
 dbSNP
2g.237336338T>ACA351191661COL6A3c.1407A>T
c.8144A>T (p.Lys2715Met)
c.889A>T
n.1029A>T
c.8762A>T (p.Lys2921Met)
c.6938A>T (p.Lys2313Met)
c.6941A>T (p.Lys2314Met)
n.5204A>T
c.8162A>T (p.Lys2721Met)
c.7541A>T (p.Lys2514Met)
c.8261A>T (p.Lys2754Met)
c.8759A>T (p.Lys2920Met)
c.6356A>T (p.Lys2119Met)
2g.237336338T>CCA351191663COL6A3c.1407A>G
c.8144A>G (p.Lys2715Arg)
c.889A>G
n.1029A>G
c.8762A>G (p.Lys2921Arg)
c.6938A>G (p.Lys2313Arg)
c.6941A>G (p.Lys2314Arg)
n.5204A>G
c.8162A>G (p.Lys2721Arg)
c.7541A>G (p.Lys2514Arg)
c.8261A>G (p.Lys2754Arg)
c.8759A>G (p.Lys2920Arg)
c.6356A>G (p.Lys2119Arg)
 gnomAD v4
2g.237336338T>GCA351191664COL6A3c.1407A>C
c.8144A>C (p.Lys2715Thr)
c.889A>C
n.1029A>C
c.8762A>C (p.Lys2921Thr)
c.6938A>C (p.Lys2313Thr)
c.6941A>C (p.Lys2314Thr)
n.5204A>C
c.8162A>C (p.Lys2721Thr)
c.7541A>C (p.Lys2514Thr)
c.8261A>C (p.Lys2754Thr)
c.8759A>C (p.Lys2920Thr)
c.6356A>C (p.Lys2119Thr)
2g.237336339dupCA540749777COL6A3c.1407dup
c.8144dup (p.Pro2716AlafsTer10)
c.889dup
n.1029dup
c.8762dup (p.Pro2922AlafsTer10)
c.6938dup (p.Pro2314AlafsTer10)
c.6941dup (p.Pro2315AlafsTer10)
n.5204dup
c.8162dup (p.Pro2722AlafsTer10)
c.7541dup (p.Pro2515AlafsTer10)
c.8261dup (p.Pro2755AlafsTer10)
c.8759dup (p.Pro2921AlafsTer10)
c.6356dup (p.Pro2120AlafsTer10)
 dbSNP gnomAD v2
2g.237336339T>ACA351191665COL6A3c.1406A>T
c.8143A>T (p.Lys2715Ter)
c.888A>T
n.1028A>T
c.8761A>T (p.Lys2921Ter)
c.6937A>T (p.Lys2313Ter)
c.6940A>T (p.Lys2314Ter)
n.5203A>T
c.8161A>T (p.Lys2721Ter)
c.7540A>T (p.Lys2514Ter)
c.8260A>T (p.Lys2754Ter)
c.8758A>T (p.Lys2920Ter)
c.6355A>T (p.Lys2119Ter)
2g.237336339T>CCA351191666COL6A3c.1406A>G
c.8143A>G (p.Lys2715Glu)
c.888A>G
n.1028A>G
c.8761A>G (p.Lys2921Glu)
c.6937A>G (p.Lys2313Glu)
c.6940A>G (p.Lys2314Glu)
n.5203A>G
c.8161A>G (p.Lys2721Glu)
c.7540A>G (p.Lys2514Glu)
c.8260A>G (p.Lys2754Glu)
c.8758A>G (p.Lys2920Glu)
c.6355A>G (p.Lys2119Glu)
 gnomAD v4
2g.237336339T>GCA351191667COL6A3c.1406A>C
c.8143A>C (p.Lys2715Gln)
c.888A>C
n.1028A>C
c.8761A>C (p.Lys2921Gln)
c.6937A>C (p.Lys2313Gln)
c.6940A>C (p.Lys2314Gln)
n.5203A>C
c.8161A>C (p.Lys2721Gln)
c.7540A>C (p.Lys2514Gln)
c.8260A>C (p.Lys2754Gln)
c.8758A>C (p.Lys2920Gln)
c.6355A>C (p.Lys2119Gln)
 dbSNP
2g.237336339T=CA1337607143COL6A3c.1406A=
c.8143A= (p.Lys2715=)
c.888A=
n.1028A=
c.8761A= (p.Lys2921=)
c.6937A= (p.Lys2313=)
c.6940A= (p.Lys2314=)
n.5203A=
c.8161A= (p.Lys2721=)
c.7540A= (p.Lys2514=)
c.8260A= (p.Lys2754=)
c.8758A= (p.Lys2920=)
c.6355A= (p.Lys2119=)
2g.237336340G>ACA431701964COL6A3c.1405C>T
c.8142C>T (p.Ala2714=)
c.887C>T
n.1027C>T
c.8760C>T (p.Ala2920=)
c.6936C>T (p.Ala2312=)
c.6939C>T (p.Ala2313=)
n.5202C>T
c.8160C>T (p.Ala2720=)
c.7539C>T (p.Ala2513=)
c.8259C>T (p.Ala2753=)
c.8757C>T (p.Ala2919=)
c.6354C>T (p.Ala2118=)
2g.237336340G>CCA431701958COL6A3c.1405C>G
c.8142C>G (p.Ala2714=)
c.887C>G
n.1027C>G
c.8760C>G (p.Ala2920=)
c.6936C>G (p.Ala2312=)
c.6939C>G (p.Ala2313=)
n.5202C>G
c.8160C>G (p.Ala2720=)
c.7539C>G (p.Ala2513=)
c.8259C>G (p.Ala2753=)
c.8757C>G (p.Ala2919=)
c.6354C>G (p.Ala2118=)
 dbSNP gnomAD v2 gnomAD v4
2g.237336340G=CA1337607144COL6A3c.1405C=
c.8142C= (p.Ala2714=)
c.887C=
n.1027C=
c.8760C= (p.Ala2920=)
c.6936C= (p.Ala2312=)
c.6939C= (p.Ala2313=)
n.5202C=
c.8160C= (p.Ala2720=)
c.7539C= (p.Ala2513=)
c.8259C= (p.Ala2753=)
c.8757C= (p.Ala2919=)
c.6354C= (p.Ala2118=)
2g.237336340G>TCA2187448COL6A3c.1405C>A
c.8142C>A (p.Ala2714=)
c.887C>A
n.1027C>A
c.8760C>A (p.Ala2920=)
c.6936C>A (p.Ala2312=)
c.6939C>A (p.Ala2313=)
n.5202C>A
c.8160C>A (p.Ala2720=)
c.7539C>A (p.Ala2513=)
c.8259C>A (p.Ala2753=)
c.8757C>A (p.Ala2919=)
c.6354C>A (p.Ala2118=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336341G>ACA351191668COL6A3c.1404C>T
c.8141C>T (p.Ala2714Val)
c.886C>T
n.1026C>T
c.8759C>T (p.Ala2920Val)
c.6935C>T (p.Ala2312Val)
c.6938C>T (p.Ala2313Val)
n.5201C>T
c.8159C>T (p.Ala2720Val)
c.7538C>T (p.Ala2513Val)
c.8258C>T (p.Ala2753Val)
c.8756C>T (p.Ala2919Val)
c.6353C>T (p.Ala2118Val)
2g.237336341G>CCA351191670COL6A3c.1404C>G
c.8141C>G (p.Ala2714Gly)
c.886C>G
n.1026C>G
c.8759C>G (p.Ala2920Gly)
c.6935C>G (p.Ala2312Gly)
c.6938C>G (p.Ala2313Gly)
n.5201C>G
c.8159C>G (p.Ala2720Gly)
c.7538C>G (p.Ala2513Gly)
c.8258C>G (p.Ala2753Gly)
c.8756C>G (p.Ala2919Gly)
c.6353C>G (p.Ala2118Gly)
 dbSNP gnomAD v2
2g.237336341G=CA1337607145COL6A3c.1404C=
c.8141C= (p.Ala2714=)
c.886C=
n.1026C=
c.8759C= (p.Ala2920=)
c.6935C= (p.Ala2312=)
c.6938C= (p.Ala2313=)
n.5201C=
c.8159C= (p.Ala2720=)
c.7538C= (p.Ala2513=)
c.8258C= (p.Ala2753=)
c.8756C= (p.Ala2919=)
c.6353C= (p.Ala2118=)
2g.237336341G>TCA351191672COL6A3c.1404C>A
c.8141C>A (p.Ala2714Asp)
c.886C>A
n.1026C>A
c.8759C>A (p.Ala2920Asp)
c.6935C>A (p.Ala2312Asp)
c.6938C>A (p.Ala2313Asp)
n.5201C>A
c.8159C>A (p.Ala2720Asp)
c.7538C>A (p.Ala2513Asp)
c.8258C>A (p.Ala2753Asp)
c.8756C>A (p.Ala2919Asp)
c.6353C>A (p.Ala2118Asp)
 ClinVar dbSNP
2g.237336342C>ACA351191674COL6A3c.1403G>T
c.8140G>T (p.Ala2714Ser)
c.885G>T
n.1025G>T
c.8758G>T (p.Ala2920Ser)
c.6934G>T (p.Ala2312Ser)
c.6937G>T (p.Ala2313Ser)
n.5200G>T
c.8158G>T (p.Ala2720Ser)
c.7537G>T (p.Ala2513Ser)
c.8257G>T (p.Ala2753Ser)
c.8755G>T (p.Ala2919Ser)
c.6352G>T (p.Ala2118Ser)
2g.237336342C=CA1337607146COL6A3c.1403G=
c.8140G= (p.Ala2714=)
c.885G=
n.1025G=
c.8758G= (p.Ala2920=)
c.6934G= (p.Ala2312=)
c.6937G= (p.Ala2313=)
n.5200G=
c.8158G= (p.Ala2720=)
c.7537G= (p.Ala2513=)
c.8257G= (p.Ala2753=)
c.8755G= (p.Ala2919=)
c.6352G= (p.Ala2118=)
2g.237336342C>GCA351191678COL6A3c.1403G>C
c.8140G>C (p.Ala2714Pro)
c.885G>C
n.1025G>C
c.8758G>C (p.Ala2920Pro)
c.6934G>C (p.Ala2312Pro)
c.6937G>C (p.Ala2313Pro)
n.5200G>C
c.8158G>C (p.Ala2720Pro)
c.7537G>C (p.Ala2513Pro)
c.8257G>C (p.Ala2753Pro)
c.8755G>C (p.Ala2919Pro)
c.6352G>C (p.Ala2118Pro)
 dbSNP gnomAD v2
2g.237336342C>TCA351191679COL6A3c.1403G>A
c.8140G>A (p.Ala2714Thr)
c.885G>A
n.1025G>A
c.8758G>A (p.Ala2920Thr)
c.6934G>A (p.Ala2312Thr)
c.6937G>A (p.Ala2313Thr)
n.5200G>A
c.8158G>A (p.Ala2720Thr)
c.7537G>A (p.Ala2513Thr)
c.8257G>A (p.Ala2753Thr)
c.8755G>A (p.Ala2919Thr)
c.6352G>A (p.Ala2118Thr)
2g.237336343A>CCA431701986COL6A3c.1402T>G
c.8139T>G (p.Ala2713=)
c.884T>G
n.1024T>G
c.8757T>G (p.Ala2919=)
c.6933T>G (p.Ala2311=)
c.6936T>G (p.Ala2312=)
n.5199T>G
c.8157T>G (p.Ala2719=)
c.7536T>G (p.Ala2512=)
c.8256T>G (p.Ala2752=)
c.8754T>G (p.Ala2918=)
c.6351T>G (p.Ala2117=)
2g.237336343A>GCA431701988COL6A3c.1402T>C
c.8139T>C (p.Ala2713=)
c.884T>C
n.1024T>C
c.8757T>C (p.Ala2919=)
c.6933T>C (p.Ala2311=)
c.6936T>C (p.Ala2312=)
n.5199T>C
c.8157T>C (p.Ala2719=)
c.7536T>C (p.Ala2512=)
c.8256T>C (p.Ala2752=)
c.8754T>C (p.Ala2918=)
c.6351T>C (p.Ala2117=)
2g.237336343A>TCA431701991COL6A3c.1402T>A
c.8139T>A (p.Ala2713=)
c.884T>A
n.1024T>A
c.8757T>A (p.Ala2919=)
c.6933T>A (p.Ala2311=)
c.6936T>A (p.Ala2312=)
n.5199T>A
c.8157T>A (p.Ala2719=)
c.7536T>A (p.Ala2512=)
c.8256T>A (p.Ala2752=)
c.8754T>A (p.Ala2918=)
c.6351T>A (p.Ala2117=)
2g.237336344G>ACA351191680COL6A3c.1401C>T
c.8138C>T (p.Ala2713Val)
c.883C>T
n.1023C>T
c.8756C>T (p.Ala2919Val)
c.6932C>T (p.Ala2311Val)
c.6935C>T (p.Ala2312Val)
n.5198C>T
c.8156C>T (p.Ala2719Val)
c.7535C>T (p.Ala2512Val)
c.8255C>T (p.Ala2752Val)
c.8753C>T (p.Ala2918Val)
c.6350C>T (p.Ala2117Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336344G>CCA351191682COL6A3c.1401C>G
c.8138C>G (p.Ala2713Gly)
c.883C>G
n.1023C>G
c.8756C>G (p.Ala2919Gly)
c.6932C>G (p.Ala2311Gly)
c.6935C>G (p.Ala2312Gly)
n.5198C>G
c.8156C>G (p.Ala2719Gly)
c.7535C>G (p.Ala2512Gly)
c.8255C>G (p.Ala2752Gly)
c.8753C>G (p.Ala2918Gly)
c.6350C>G (p.Ala2117Gly)
2g.237336344G=CA1337607147COL6A3c.1401C=
c.8138C= (p.Ala2713=)
c.883C=
n.1023C=
c.8756C= (p.Ala2919=)
c.6932C= (p.Ala2311=)
c.6935C= (p.Ala2312=)
n.5198C=
c.8156C= (p.Ala2719=)
c.7535C= (p.Ala2512=)
c.8255C= (p.Ala2752=)
c.8753C= (p.Ala2918=)
c.6350C= (p.Ala2117=)
2g.237336344G>TCA351191681COL6A3c.1401C>A
c.8138C>A (p.Ala2713Asp)
c.883C>A
n.1023C>A
c.8756C>A (p.Ala2919Asp)
c.6932C>A (p.Ala2311Asp)
c.6935C>A (p.Ala2312Asp)
n.5198C>A
c.8156C>A (p.Ala2719Asp)
c.7535C>A (p.Ala2512Asp)
c.8255C>A (p.Ala2752Asp)
c.8753C>A (p.Ala2918Asp)
c.6350C>A (p.Ala2117Asp)
2g.237336345C>ACA351191683COL6A3c.1400G>T
c.8137G>T (p.Ala2713Ser)
c.882G>T
n.1022G>T
c.8755G>T (p.Ala2919Ser)
c.6931G>T (p.Ala2311Ser)
c.6934G>T (p.Ala2312Ser)
n.5197G>T
c.8155G>T (p.Ala2719Ser)
c.7534G>T (p.Ala2512Ser)
c.8254G>T (p.Ala2752Ser)
c.8752G>T (p.Ala2918Ser)
c.6349G>T (p.Ala2117Ser)
2g.237336345C>GCA351191685COL6A3c.1400G>C
c.8137G>C (p.Ala2713Pro)
c.882G>C
n.1022G>C
c.8755G>C (p.Ala2919Pro)
c.6931G>C (p.Ala2311Pro)
c.6934G>C (p.Ala2312Pro)
n.5197G>C
c.8155G>C (p.Ala2719Pro)
c.7534G>C (p.Ala2512Pro)
c.8254G>C (p.Ala2752Pro)
c.8752G>C (p.Ala2918Pro)
c.6349G>C (p.Ala2117Pro)
2g.237336345C>TCA351191686COL6A3c.1400G>A
c.8137G>A (p.Ala2713Thr)
c.882G>A
n.1022G>A
c.8755G>A (p.Ala2919Thr)
c.6931G>A (p.Ala2311Thr)
c.6934G>A (p.Ala2312Thr)
n.5197G>A
c.8155G>A (p.Ala2719Thr)
c.7534G>A (p.Ala2512Thr)
c.8254G>A (p.Ala2752Thr)
c.8752G>A (p.Ala2918Thr)
c.6349G>A (p.Ala2117Thr)
 dbSNP gnomAD v4
2g.237336346C>ACA431702009COL6A3c.1399G>T
c.8136G>T (p.Val2712=)
c.881G>T
n.1021G>T
c.8754G>T (p.Val2918=)
c.6930G>T (p.Val2310=)
c.6933G>T (p.Val2311=)
n.5196G>T
c.8154G>T (p.Val2718=)
c.7533G>T (p.Val2511=)
c.8253G>T (p.Val2751=)
c.8751G>T (p.Val2917=)
c.6348G>T (p.Val2116=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336346C=CA1337607148COL6A3c.1399G=
c.8136G= (p.Val2712=)
c.881G=
n.1021G=
c.8754G= (p.Val2918=)
c.6930G= (p.Val2310=)
c.6933G= (p.Val2311=)
n.5196G=
c.8154G= (p.Val2718=)
c.7533G= (p.Val2511=)
c.8253G= (p.Val2751=)
c.8751G= (p.Val2917=)
c.6348G= (p.Val2116=)
2g.237336346C>GCA431702012COL6A3c.1399G>C
c.8136G>C (p.Val2712=)
c.881G>C
n.1021G>C
c.8754G>C (p.Val2918=)
c.6930G>C (p.Val2310=)
c.6933G>C (p.Val2311=)
n.5196G>C
c.8154G>C (p.Val2718=)
c.7533G>C (p.Val2511=)
c.8253G>C (p.Val2751=)
c.8751G>C (p.Val2917=)
c.6348G>C (p.Val2116=)
2g.237336346C>TCA431702016COL6A3c.1399G>A
c.8136G>A (p.Val2712=)
c.881G>A
n.1021G>A
c.8754G>A (p.Val2918=)
c.6930G>A (p.Val2310=)
c.6933G>A (p.Val2311=)
n.5196G>A
c.8154G>A (p.Val2718=)
c.7533G>A (p.Val2511=)
c.8253G>A (p.Val2751=)
c.8751G>A (p.Val2917=)
c.6348G>A (p.Val2116=)
 ClinVar dbSNP
2g.237336347A>CCA351191688COL6A3c.1398T>G
c.8135T>G (p.Val2712Gly)
c.880T>G
n.1020T>G
c.8753T>G (p.Val2918Gly)
c.6929T>G (p.Val2310Gly)
c.6932T>G (p.Val2311Gly)
n.5195T>G
c.8153T>G (p.Val2718Gly)
c.7532T>G (p.Val2511Gly)
c.8252T>G (p.Val2751Gly)
c.8750T>G (p.Val2917Gly)
c.6347T>G (p.Val2116Gly)
2g.237336347A>GCA351191690COL6A3c.1398T>C
c.8135T>C (p.Val2712Ala)
c.880T>C
n.1020T>C
c.8753T>C (p.Val2918Ala)
c.6929T>C (p.Val2310Ala)
c.6932T>C (p.Val2311Ala)
n.5195T>C
c.8153T>C (p.Val2718Ala)
c.7532T>C (p.Val2511Ala)
c.8252T>C (p.Val2751Ala)
c.8750T>C (p.Val2917Ala)
c.6347T>C (p.Val2116Ala)
2g.237336347A>TCA351191692COL6A3c.1398T>A
c.8135T>A (p.Val2712Glu)
c.880T>A
n.1020T>A
c.8753T>A (p.Val2918Glu)
c.6929T>A (p.Val2310Glu)
c.6932T>A (p.Val2311Glu)
n.5195T>A
c.8153T>A (p.Val2718Glu)
c.7532T>A (p.Val2511Glu)
c.8252T>A (p.Val2751Glu)
c.8750T>A (p.Val2917Glu)
c.6347T>A (p.Val2116Glu)
 gnomAD v4
2g.237336348C>ACA351191694COL6A3c.1397G>T
c.8134G>T (p.Val2712Leu)
c.879G>T
n.1019G>T
c.8752G>T (p.Val2918Leu)
c.6928G>T (p.Val2310Leu)
c.6931G>T (p.Val2311Leu)
n.5194G>T
c.8152G>T (p.Val2718Leu)
c.7531G>T (p.Val2511Leu)
c.8251G>T (p.Val2751Leu)
c.8749G>T (p.Val2917Leu)
c.6346G>T (p.Val2116Leu)
2g.237336348C>GCA351191696COL6A3c.1397G>C
c.8134G>C (p.Val2712Leu)
c.879G>C
n.1019G>C
c.8752G>C (p.Val2918Leu)
c.6928G>C (p.Val2310Leu)
c.6931G>C (p.Val2311Leu)
n.5194G>C
c.8152G>C (p.Val2718Leu)
c.7531G>C (p.Val2511Leu)
c.8251G>C (p.Val2751Leu)
c.8749G>C (p.Val2917Leu)
c.6346G>C (p.Val2116Leu)
2g.237336348C>TCA351191698COL6A3c.1397G>A
c.8134G>A (p.Val2712Met)
c.879G>A
n.1019G>A
c.8752G>A (p.Val2918Met)
c.6928G>A (p.Val2310Met)
c.6931G>A (p.Val2311Met)
n.5194G>A
c.8152G>A (p.Val2718Met)
c.7531G>A (p.Val2511Met)
c.8251G>A (p.Val2751Met)
c.8749G>A (p.Val2917Met)
c.6346G>A (p.Val2116Met)
 gnomAD v4
2g.237336349A>CCA431702046COL6A3c.1396T>G
c.8133T>G (p.Pro2711=)
c.878T>G
n.1018T>G
c.8751T>G (p.Pro2917=)
c.6927T>G (p.Pro2309=)
c.6930T>G (p.Pro2310=)
n.5193T>G
c.8151T>G (p.Pro2717=)
c.7530T>G (p.Pro2510=)
c.8250T>G (p.Pro2750=)
c.8748T>G (p.Pro2916=)
c.6345T>G (p.Pro2115=)
2g.237336349A>GCA431702049COL6A3c.1396T>C
c.8133T>C (p.Pro2711=)
c.878T>C
n.1018T>C
c.8751T>C (p.Pro2917=)
c.6927T>C (p.Pro2309=)
c.6930T>C (p.Pro2310=)
n.5193T>C
c.8151T>C (p.Pro2717=)
c.7530T>C (p.Pro2510=)
c.8250T>C (p.Pro2750=)
c.8748T>C (p.Pro2916=)
c.6345T>C (p.Pro2115=)
2g.237336349A>TCA431702054COL6A3c.1396T>A
c.8133T>A (p.Pro2711=)
c.878T>A
n.1018T>A
c.8751T>A (p.Pro2917=)
c.6927T>A (p.Pro2309=)
c.6930T>A (p.Pro2310=)
n.5193T>A
c.8151T>A (p.Pro2717=)
c.7530T>A (p.Pro2510=)
c.8250T>A (p.Pro2750=)
c.8748T>A (p.Pro2916=)
c.6345T>A (p.Pro2115=)
2g.237336350G>ACA351191700COL6A3c.1395C>T
c.8132C>T (p.Pro2711Leu)
c.877C>T
n.1017C>T
c.8750C>T (p.Pro2917Leu)
c.6926C>T (p.Pro2309Leu)
c.6929C>T (p.Pro2310Leu)
n.5192C>T
c.8150C>T (p.Pro2717Leu)
c.7529C>T (p.Pro2510Leu)
c.8249C>T (p.Pro2750Leu)
c.8747C>T (p.Pro2916Leu)
c.6344C>T (p.Pro2115Leu)
2g.237336350G>CCA351191702COL6A3c.1395C>G
c.8132C>G (p.Pro2711Arg)
c.877C>G
n.1017C>G
c.8750C>G (p.Pro2917Arg)
c.6926C>G (p.Pro2309Arg)
c.6929C>G (p.Pro2310Arg)
n.5192C>G
c.8150C>G (p.Pro2717Arg)
c.7529C>G (p.Pro2510Arg)
c.8249C>G (p.Pro2750Arg)
c.8747C>G (p.Pro2916Arg)
c.6344C>G (p.Pro2115Arg)
2g.237336350G=CA1337607149COL6A3c.1395C=
c.8132C= (p.Pro2711=)
c.877C=
n.1017C=
c.8750C= (p.Pro2917=)
c.6926C= (p.Pro2309=)
c.6929C= (p.Pro2310=)
n.5192C=
c.8150C= (p.Pro2717=)
c.7529C= (p.Pro2510=)
c.8249C= (p.Pro2750=)
c.8747C= (p.Pro2916=)
c.6344C= (p.Pro2115=)
2g.237336350G>TCA351191703COL6A3c.1395C>A
c.8132C>A (p.Pro2711His)
c.877C>A
n.1017C>A
c.8750C>A (p.Pro2917His)
c.6926C>A (p.Pro2309His)
c.6929C>A (p.Pro2310His)
n.5192C>A
c.8150C>A (p.Pro2717His)
c.7529C>A (p.Pro2510His)
c.8249C>A (p.Pro2750His)
c.8747C>A (p.Pro2916His)
c.6344C>A (p.Pro2115His)
 ClinVar dbSNP
2g.237336351G>ACA2187449COL6A3c.1394C>T
c.8131C>T (p.Pro2711Ser)
c.876C>T
n.1016C>T
c.8749C>T (p.Pro2917Ser)
c.6925C>T (p.Pro2309Ser)
c.6928C>T (p.Pro2310Ser)
n.5191C>T
c.8149C>T (p.Pro2717Ser)
c.7528C>T (p.Pro2510Ser)
c.8248C>T (p.Pro2750Ser)
c.8746C>T (p.Pro2916Ser)
c.6343C>T (p.Pro2115Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336351G>CCA351191711COL6A3c.1394C>G
c.8131C>G (p.Pro2711Ala)
c.876C>G
n.1016C>G
c.8749C>G (p.Pro2917Ala)
c.6925C>G (p.Pro2309Ala)
c.6928C>G (p.Pro2310Ala)
n.5191C>G
c.8149C>G (p.Pro2717Ala)
c.7528C>G (p.Pro2510Ala)
c.8248C>G (p.Pro2750Ala)
c.8746C>G (p.Pro2916Ala)
c.6343C>G (p.Pro2115Ala)
2g.237336351G=CA1337607150COL6A3c.1394C=
c.8131C= (p.Pro2711=)
c.876C=
n.1016C=
c.8749C= (p.Pro2917=)
c.6925C= (p.Pro2309=)
c.6928C= (p.Pro2310=)
n.5191C=
c.8149C= (p.Pro2717=)
c.7528C= (p.Pro2510=)
c.8248C= (p.Pro2750=)
c.8746C= (p.Pro2916=)
c.6343C= (p.Pro2115=)
2g.237336351G>TCA351191709COL6A3c.1394C>A
c.8131C>A (p.Pro2711Thr)
c.876C>A
n.1016C>A
c.8749C>A (p.Pro2917Thr)
c.6925C>A (p.Pro2309Thr)
c.6928C>A (p.Pro2310Thr)
n.5191C>A
c.8149C>A (p.Pro2717Thr)
c.7528C>A (p.Pro2510Thr)
c.8248C>A (p.Pro2750Thr)
c.8746C>A (p.Pro2916Thr)
c.6343C>A (p.Pro2115Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.237336352T>ACA351191712COL6A3c.1393A>T
c.8130A>T (p.Lys2710Asn)
c.875A>T
n.1015A>T
c.8748A>T (p.Lys2916Asn)
c.6924A>T (p.Lys2308Asn)
c.6927A>T (p.Lys2309Asn)
n.5190A>T
c.8148A>T (p.Lys2716Asn)
c.7527A>T (p.Lys2509Asn)
c.8247A>T (p.Lys2749Asn)
c.8745A>T (p.Lys2915Asn)
c.6342A>T (p.Lys2114Asn)
 gnomAD v4
2g.237336352T>CCA431702063COL6A3c.1393A>G
c.8130A>G (p.Lys2710=)
c.875A>G
n.1015A>G
c.8748A>G (p.Lys2916=)
c.6924A>G (p.Lys2308=)
c.6927A>G (p.Lys2309=)
n.5190A>G
c.8148A>G (p.Lys2716=)
c.7527A>G (p.Lys2509=)
c.8247A>G (p.Lys2749=)
c.8745A>G (p.Lys2915=)
c.6342A>G (p.Lys2114=)
2g.237336352T>GCA2187450COL6A3c.1393A>C
c.8130A>C (p.Lys2710Asn)
c.875A>C
n.1015A>C
c.8748A>C (p.Lys2916Asn)
c.6924A>C (p.Lys2308Asn)
c.6927A>C (p.Lys2309Asn)
n.5190A>C
c.8148A>C (p.Lys2716Asn)
c.7527A>C (p.Lys2509Asn)
c.8247A>C (p.Lys2749Asn)
c.8745A>C (p.Lys2915Asn)
c.6342A>C (p.Lys2114Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336352T=CA1337607151COL6A3c.1393A=
c.8130A= (p.Lys2710=)
c.875A=
n.1015A=
c.8748A= (p.Lys2916=)
c.6924A= (p.Lys2308=)
c.6927A= (p.Lys2309=)
n.5190A=
c.8148A= (p.Lys2716=)
c.7527A= (p.Lys2509=)
c.8247A= (p.Lys2749=)
c.8745A= (p.Lys2915=)
c.6342A= (p.Lys2114=)
2g.237336353T>ACA351191715COL6A3c.1392A>T
c.8129A>T (p.Lys2710Ile)
c.874A>T
n.1014A>T
c.8747A>T (p.Lys2916Ile)
c.6923A>T (p.Lys2308Ile)
c.6926A>T (p.Lys2309Ile)
n.5189A>T
c.8147A>T (p.Lys2716Ile)
c.7526A>T (p.Lys2509Ile)
c.8246A>T (p.Lys2749Ile)
c.8744A>T (p.Lys2915Ile)
c.6341A>T (p.Lys2114Ile)
2g.237336353T>CCA351191716COL6A3c.1392A>G
c.8129A>G (p.Lys2710Arg)
c.874A>G
n.1014A>G
c.8747A>G (p.Lys2916Arg)
c.6923A>G (p.Lys2308Arg)
c.6926A>G (p.Lys2309Arg)
n.5189A>G
c.8147A>G (p.Lys2716Arg)
c.7526A>G (p.Lys2509Arg)
c.8246A>G (p.Lys2749Arg)
c.8744A>G (p.Lys2915Arg)
c.6341A>G (p.Lys2114Arg)
2g.237336353T>GCA351191717COL6A3c.1392A>C
c.8129A>C (p.Lys2710Thr)
c.874A>C
n.1014A>C
c.8747A>C (p.Lys2916Thr)
c.6923A>C (p.Lys2308Thr)
c.6926A>C (p.Lys2309Thr)
n.5189A>C
c.8147A>C (p.Lys2716Thr)
c.7526A>C (p.Lys2509Thr)
c.8246A>C (p.Lys2749Thr)
c.8744A>C (p.Lys2915Thr)
c.6341A>C (p.Lys2114Thr)
2g.237336354T>ACA351191718COL6A3c.1391A>T
c.8128A>T (p.Lys2710Ter)
c.873A>T
n.1013A>T
c.8746A>T (p.Lys2916Ter)
c.6922A>T (p.Lys2308Ter)
c.6925A>T (p.Lys2309Ter)
n.5188A>T
c.8146A>T (p.Lys2716Ter)
c.7525A>T (p.Lys2509Ter)
c.8245A>T (p.Lys2749Ter)
c.8743A>T (p.Lys2915Ter)
c.6340A>T (p.Lys2114Ter)
2g.237336354T>CCA351191719COL6A3c.1391A>G
c.8128A>G (p.Lys2710Glu)
c.873A>G
n.1013A>G
c.8746A>G (p.Lys2916Glu)
c.6922A>G (p.Lys2308Glu)
c.6925A>G (p.Lys2309Glu)
n.5188A>G
c.8146A>G (p.Lys2716Glu)
c.7525A>G (p.Lys2509Glu)
c.8245A>G (p.Lys2749Glu)
c.8743A>G (p.Lys2915Glu)
c.6340A>G (p.Lys2114Glu)
 COSMIC
2g.237336354T>GCA351191722COL6A3c.1391A>C
c.8128A>C (p.Lys2710Gln)
c.873A>C
n.1013A>C
c.8746A>C (p.Lys2916Gln)
c.6922A>C (p.Lys2308Gln)
c.6925A>C (p.Lys2309Gln)
n.5188A>C
c.8146A>C (p.Lys2716Gln)
c.7525A>C (p.Lys2509Gln)
c.8245A>C (p.Lys2749Gln)
c.8743A>C (p.Lys2915Gln)
c.6340A>C (p.Lys2114Gln)
2g.237336355C>ACA431702076COL6A3c.1390G>T
c.8127G>T (p.Ala2709=)
c.872G>T
n.1012G>T
c.8745G>T (p.Ala2915=)
c.6921G>T (p.Ala2307=)
c.6924G>T (p.Ala2308=)
n.5187G>T
c.8145G>T (p.Ala2715=)
c.7524G>T (p.Ala2508=)
c.8244G>T (p.Ala2748=)
c.8742G>T (p.Ala2914=)
c.6339G>T (p.Ala2113=)
 dbSNP
2g.237336355C=CA1337607152COL6A3c.1390G=
c.8127G= (p.Ala2709=)
c.872G=
n.1012G=
c.8745G= (p.Ala2915=)
c.6921G= (p.Ala2307=)
c.6924G= (p.Ala2308=)
n.5187G=
c.8145G= (p.Ala2715=)
c.7524G= (p.Ala2508=)
c.8244G= (p.Ala2748=)
c.8742G= (p.Ala2914=)
c.6339G= (p.Ala2113=)
2g.237336355C>GCA431702078COL6A3c.1390G>C
c.8127G>C (p.Ala2709=)
c.872G>C
n.1012G>C
c.8745G>C (p.Ala2915=)
c.6921G>C (p.Ala2307=)
c.6924G>C (p.Ala2308=)
n.5187G>C
c.8145G>C (p.Ala2715=)
c.7524G>C (p.Ala2508=)
c.8244G>C (p.Ala2748=)
c.8742G>C (p.Ala2914=)
c.6339G>C (p.Ala2113=)
2g.237336355C>TCA202878COL6A3c.1390G>A
c.8127G>A (p.Ala2709=)
c.872G>A
n.1012G>A
c.8745G>A (p.Ala2915=)
c.6921G>A (p.Ala2307=)
c.6924G>A (p.Ala2308=)
n.5187G>A
c.8145G>A (p.Ala2715=)
c.7524G>A (p.Ala2508=)
c.8244G>A (p.Ala2748=)
c.8742G>A (p.Ala2914=)
c.6339G>A (p.Ala2113=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336356G>ACA2187451COL6A3c.1389C>T
c.8126C>T (p.Ala2709Val)
c.871C>T
n.1011C>T
c.8744C>T (p.Ala2915Val)
c.6920C>T (p.Ala2307Val)
c.6923C>T (p.Ala2308Val)
n.5186C>T
c.8144C>T (p.Ala2715Val)
c.7523C>T (p.Ala2508Val)
c.8243C>T (p.Ala2748Val)
c.8741C>T (p.Ala2914Val)
c.6338C>T (p.Ala2113Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237336356G>CCA351191728COL6A3c.1389C>G
c.8126C>G (p.Ala2709Gly)
c.871C>G
n.1011C>G
c.8744C>G (p.Ala2915Gly)
c.6920C>G (p.Ala2307Gly)
c.6923C>G (p.Ala2308Gly)
n.5186C>G
c.8144C>G (p.Ala2715Gly)
c.7523C>G (p.Ala2508Gly)
c.8243C>G (p.Ala2748Gly)
c.8741C>G (p.Ala2914Gly)
c.6338C>G (p.Ala2113Gly)
2g.237336356G=CA1337607153COL6A3c.1389C=
c.8126C= (p.Ala2709=)
c.871C=
n.1011C=
c.8744C= (p.Ala2915=)
c.6920C= (p.Ala2307=)
c.6923C= (p.Ala2308=)
n.5186C=
c.8144C= (p.Ala2715=)
c.7523C= (p.Ala2508=)
c.8243C= (p.Ala2748=)
c.8741C= (p.Ala2914=)
c.6338C= (p.Ala2113=)
2g.237336356G>TCA351191731COL6A3c.1389C>A
c.8126C>A (p.Ala2709Glu)
c.871C>A
n.1011C>A
c.8744C>A (p.Ala2915Glu)
c.6920C>A (p.Ala2307Glu)
c.6923C>A (p.Ala2308Glu)
n.5186C>A
c.8144C>A (p.Ala2715Glu)
c.7523C>A (p.Ala2508Glu)
c.8243C>A (p.Ala2748Glu)
c.8741C>A (p.Ala2914Glu)
c.6338C>A (p.Ala2113Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.237336360_237336374delCA2663792160COL6A3c.1375_1389del
c.8112_8126del (p.Lys2705_Ala2709del)
c.857_871del
n.997_1011del
c.8730_8744del (p.Lys2911_Ala2915del)
c.6906_6920del (p.Lys2303_Ala2307del)
c.6909_6923del (p.Lys2304_Ala2308del)
n.5172_5186del
c.8130_8144del (p.Lys2711_Ala2715del)
c.7509_7523del (p.Lys2504_Ala2508del)
c.8229_8243del (p.Lys2744_Ala2748del)
c.8727_8741del (p.Lys2910_Ala2914del)
c.6324_6338del (p.Lys2109_Ala2113del)
 gnomAD v4
2g.237336357C>ACA351191735COL6A3c.1388G>T
c.8125G>T (p.Ala2709Ser)
c.870G>T
n.1010G>T
c.8743G>T (p.Ala2915Ser)
c.6919G>T (p.Ala2307Ser)
c.6922G>T (p.Ala2308Ser)
n.5185G>T
c.8143G>T (p.Ala2715Ser)
c.7522G>T (p.Ala2508Ser)
c.8242G>T (p.Ala2748Ser)
c.8740G>T (p.Ala2914Ser)
c.6337G>T (p.Ala2113Ser)
2g.237336357C=CA1337607154COL6A3c.1388G=
c.8125G= (p.Ala2709=)
c.870G=
n.1010G=
c.8743G= (p.Ala2915=)
c.6919G= (p.Ala2307=)
c.6922G= (p.Ala2308=)
n.5185G=
c.8143G= (p.Ala2715=)
c.7522G= (p.Ala2508=)
c.8242G= (p.Ala2748=)
c.8740G= (p.Ala2914=)
c.6337G= (p.Ala2113=)
2g.237336357C>GCA351191734COL6A3c.1388G>C
c.8125G>C (p.Ala2709Pro)
c.870G>C
n.1010G>C
c.8743G>C (p.Ala2915Pro)
c.6919G>C (p.Ala2307Pro)
c.6922G>C (p.Ala2308Pro)
n.5185G>C
c.8143G>C (p.Ala2715Pro)
c.7522G>C (p.Ala2508Pro)
c.8242G>C (p.Ala2748Pro)
c.8740G>C (p.Ala2914Pro)
c.6337G>C (p.Ala2113Pro)
2g.237336357C>TCA2187452COL6A3c.1388G>A
c.8125G>A (p.Ala2709Thr)
c.870G>A
n.1010G>A
c.8743G>A (p.Ala2915Thr)
c.6919G>A (p.Ala2307Thr)
c.6922G>A (p.Ala2308Thr)
n.5185G>A
c.8143G>A (p.Ala2715Thr)
c.7522G>A (p.Ala2508Thr)
c.8242G>A (p.Ala2748Thr)
c.8740G>A (p.Ala2914Thr)
c.6337G>A (p.Ala2113Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336358A>CCA431702098COL6A3c.1387T>G
c.8124T>G (p.Pro2708=)
c.869T>G
n.1009T>G
c.8742T>G (p.Pro2914=)
c.6918T>G (p.Pro2306=)
c.6921T>G (p.Pro2307=)
n.5184T>G
c.8142T>G (p.Pro2714=)
c.7521T>G (p.Pro2507=)
c.8241T>G (p.Pro2747=)
c.8739T>G (p.Pro2913=)
c.6336T>G (p.Pro2112=)
2g.237336358A>GCA431702100COL6A3c.1387T>C
c.8124T>C (p.Pro2708=)
c.869T>C
n.1009T>C
c.8742T>C (p.Pro2914=)
c.6918T>C (p.Pro2306=)
c.6921T>C (p.Pro2307=)
n.5184T>C
c.8142T>C (p.Pro2714=)
c.7521T>C (p.Pro2507=)
c.8241T>C (p.Pro2747=)
c.8739T>C (p.Pro2913=)
c.6336T>C (p.Pro2112=)
2g.237336358A>TCA431702102COL6A3c.1387T>A
c.8124T>A (p.Pro2708=)
c.869T>A
n.1009T>A
c.8742T>A (p.Pro2914=)
c.6918T>A (p.Pro2306=)
c.6921T>A (p.Pro2307=)
n.5184T>A
c.8142T>A (p.Pro2714=)
c.7521T>A (p.Pro2507=)
c.8241T>A (p.Pro2747=)
c.8739T>A (p.Pro2913=)
c.6336T>A (p.Pro2112=)
2g.237336359G>ACA2187453COL6A3c.1386C>T
c.8123C>T (p.Pro2708Leu)
c.868C>T
n.1008C>T
c.8741C>T (p.Pro2914Leu)
c.6917C>T (p.Pro2306Leu)
c.6920C>T (p.Pro2307Leu)
n.5183C>T
c.8141C>T (p.Pro2714Leu)
c.7520C>T (p.Pro2507Leu)
c.8240C>T (p.Pro2747Leu)
c.8738C>T (p.Pro2913Leu)
c.6335C>T (p.Pro2112Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336359G>CCA351191736COL6A3c.1386C>G
c.8123C>G (p.Pro2708Arg)
c.868C>G
n.1008C>G
c.8741C>G (p.Pro2914Arg)
c.6917C>G (p.Pro2306Arg)
c.6920C>G (p.Pro2307Arg)
n.5183C>G
c.8141C>G (p.Pro2714Arg)
c.7520C>G (p.Pro2507Arg)
c.8240C>G (p.Pro2747Arg)
c.8738C>G (p.Pro2913Arg)
c.6335C>G (p.Pro2112Arg)
2g.237336359G=CA1337607155COL6A3c.1386C=
c.8123C= (p.Pro2708=)
c.868C=
n.1008C=
c.8741C= (p.Pro2914=)
c.6917C= (p.Pro2306=)
c.6920C= (p.Pro2307=)
n.5183C=
c.8141C= (p.Pro2714=)
c.7520C= (p.Pro2507=)
c.8240C= (p.Pro2747=)
c.8738C= (p.Pro2913=)
c.6335C= (p.Pro2112=)
2g.237336359G>TCA351191737COL6A3c.1386C>A
c.8123C>A (p.Pro2708His)
c.868C>A
n.1008C>A
c.8741C>A (p.Pro2914His)
c.6917C>A (p.Pro2306His)
c.6920C>A (p.Pro2307His)
n.5183C>A
c.8141C>A (p.Pro2714His)
c.7520C>A (p.Pro2507His)
c.8240C>A (p.Pro2747His)
c.8738C>A (p.Pro2913His)
c.6335C>A (p.Pro2112His)
2g.237336360G>ACA351191738COL6A3c.1385C>T
c.8122C>T (p.Pro2708Ser)
c.867C>T
n.1007C>T
c.8740C>T (p.Pro2914Ser)
c.6916C>T (p.Pro2306Ser)
c.6919C>T (p.Pro2307Ser)
n.5182C>T
c.8140C>T (p.Pro2714Ser)
c.7519C>T (p.Pro2507Ser)
c.8239C>T (p.Pro2747Ser)
c.8737C>T (p.Pro2913Ser)
c.6334C>T (p.Pro2112Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237336360G>CCA351191739COL6A3c.1385C>G
c.8122C>G (p.Pro2708Ala)
c.867C>G
n.1007C>G
c.8740C>G (p.Pro2914Ala)
c.6916C>G (p.Pro2306Ala)
c.6919C>G (p.Pro2307Ala)
n.5182C>G
c.8140C>G (p.Pro2714Ala)
c.7519C>G (p.Pro2507Ala)
c.8239C>G (p.Pro2747Ala)
c.8737C>G (p.Pro2913Ala)
c.6334C>G (p.Pro2112Ala)
2g.237336360G=CA1337607156COL6A3c.1385C=
c.8122C= (p.Pro2708=)
c.867C=
n.1007C=
c.8740C= (p.Pro2914=)
c.6916C= (p.Pro2306=)
c.6919C= (p.Pro2307=)
n.5182C=
c.8140C= (p.Pro2714=)
c.7519C= (p.Pro2507=)
c.8239C= (p.Pro2747=)
c.8737C= (p.Pro2913=)
c.6334C= (p.Pro2112=)
2g.237336360G>TCA351191740COL6A3c.1385C>A
c.8122C>A (p.Pro2708Thr)
c.867C>A
n.1007C>A
c.8740C>A (p.Pro2914Thr)
c.6916C>A (p.Pro2306Thr)
c.6919C>A (p.Pro2307Thr)
n.5182C>A
c.8140C>A (p.Pro2714Thr)
c.7519C>A (p.Pro2507Thr)
c.8239C>A (p.Pro2747Thr)
c.8737C>A (p.Pro2913Thr)
c.6334C>A (p.Pro2112Thr)
2g.237336361G>ACA431702114COL6A3c.1384C>T
c.8121C>T (p.Ala2707=)
c.866C>T
n.1006C>T
c.8739C>T (p.Ala2913=)
c.6915C>T (p.Ala2305=)
c.6918C>T (p.Ala2306=)
n.5181C>T
c.8139C>T (p.Ala2713=)
c.7518C>T (p.Ala2506=)
c.8238C>T (p.Ala2746=)
c.8736C>T (p.Ala2912=)
c.6333C>T (p.Ala2111=)
 dbSNP
2g.237336361G>CCA431702118COL6A3c.1384C>G
c.8121C>G (p.Ala2707=)
c.866C>G
n.1006C>G
c.8739C>G (p.Ala2913=)
c.6915C>G (p.Ala2305=)
c.6918C>G (p.Ala2306=)
n.5181C>G
c.8139C>G (p.Ala2713=)
c.7518C>G (p.Ala2506=)
c.8238C>G (p.Ala2746=)
c.8736C>G (p.Ala2912=)
c.6333C>G (p.Ala2111=)
2g.237336361G=CA1337607157COL6A3c.1384C=
c.8121C= (p.Ala2707=)
c.866C=
n.1006C=
c.8739C= (p.Ala2913=)
c.6915C= (p.Ala2305=)
c.6918C= (p.Ala2306=)
n.5181C=
c.8139C= (p.Ala2713=)
c.7518C= (p.Ala2506=)
c.8238C= (p.Ala2746=)
c.8736C= (p.Ala2912=)
c.6333C= (p.Ala2111=)
2g.237336361G>TCA431702116COL6A3c.1384C>A
c.8121C>A (p.Ala2707=)
c.866C>A
n.1006C>A
c.8739C>A (p.Ala2913=)
c.6915C>A (p.Ala2305=)
c.6918C>A (p.Ala2306=)
n.5181C>A
c.8139C>A (p.Ala2713=)
c.7518C>A (p.Ala2506=)
c.8238C>A (p.Ala2746=)
c.8736C>A (p.Ala2912=)
c.6333C>A (p.Ala2111=)
2g.237336362G>ACA351191741COL6A3c.1383C>T
c.8120C>T (p.Ala2707Val)
c.865C>T
n.1005C>T
c.8738C>T (p.Ala2913Val)
c.6914C>T (p.Ala2305Val)
c.6917C>T (p.Ala2306Val)
n.5180C>T
c.8138C>T (p.Ala2713Val)
c.7517C>T (p.Ala2506Val)
c.8237C>T (p.Ala2746Val)
c.8735C>T (p.Ala2912Val)
c.6332C>T (p.Ala2111Val)
 gnomAD v4
2g.237336362G>CCA351191742COL6A3c.1383C>G
c.8120C>G (p.Ala2707Gly)
c.865C>G
n.1005C>G
c.8738C>G (p.Ala2913Gly)
c.6914C>G (p.Ala2305Gly)
c.6917C>G (p.Ala2306Gly)
n.5180C>G
c.8138C>G (p.Ala2713Gly)
c.7517C>G (p.Ala2506Gly)
c.8237C>G (p.Ala2746Gly)
c.8735C>G (p.Ala2912Gly)
c.6332C>G (p.Ala2111Gly)
 gnomAD v4
2g.237336362G=CA1337607158COL6A3c.1383C=
c.8120C= (p.Ala2707=)
c.865C=
n.1005C=
c.8738C= (p.Ala2913=)
c.6914C= (p.Ala2305=)
c.6917C= (p.Ala2306=)
n.5180C=
c.8138C= (p.Ala2713=)
c.7517C= (p.Ala2506=)
c.8237C= (p.Ala2746=)
c.8735C= (p.Ala2912=)
c.6332C= (p.Ala2111=)
2g.237336362G>TCA351191743COL6A3c.1383C>A
c.8120C>A (p.Ala2707Asp)
c.865C>A
n.1005C>A
c.8738C>A (p.Ala2913Asp)
c.6914C>A (p.Ala2305Asp)
c.6917C>A (p.Ala2306Asp)
n.5180C>A
c.8138C>A (p.Ala2713Asp)
c.7517C>A (p.Ala2506Asp)
c.8237C>A (p.Ala2746Asp)
c.8735C>A (p.Ala2912Asp)
c.6332C>A (p.Ala2111Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336363C>ACA351191744COL6A3c.1382G>T
c.8119G>T (p.Ala2707Ser)
c.864G>T
n.1004G>T
c.8737G>T (p.Ala2913Ser)
c.6913G>T (p.Ala2305Ser)
c.6916G>T (p.Ala2306Ser)
n.5179G>T
c.8137G>T (p.Ala2713Ser)
c.7516G>T (p.Ala2506Ser)
c.8236G>T (p.Ala2746Ser)
c.8734G>T (p.Ala2912Ser)
c.6331G>T (p.Ala2111Ser)
 gnomAD v4
2g.237336363C>GCA351191745COL6A3c.1382G>C
c.8119G>C (p.Ala2707Pro)
c.864G>C
n.1004G>C
c.8737G>C (p.Ala2913Pro)
c.6913G>C (p.Ala2305Pro)
c.6916G>C (p.Ala2306Pro)
n.5179G>C
c.8137G>C (p.Ala2713Pro)
c.7516G>C (p.Ala2506Pro)
c.8236G>C (p.Ala2746Pro)
c.8734G>C (p.Ala2912Pro)
c.6331G>C (p.Ala2111Pro)
2g.237336363C>TCA351191746COL6A3c.1382G>A
c.8119G>A (p.Ala2707Thr)
c.864G>A
n.1004G>A
c.8737G>A (p.Ala2913Thr)
c.6913G>A (p.Ala2305Thr)
c.6916G>A (p.Ala2306Thr)
n.5179G>A
c.8137G>A (p.Ala2713Thr)
c.7516G>A (p.Ala2506Thr)
c.8236G>A (p.Ala2746Thr)
c.8734G>A (p.Ala2912Thr)
c.6331G>A (p.Ala2111Thr)
2g.237336364delCA2573130114COL6A3c.1382del
c.8119del (p.Ala2707ProfsTer24)
c.864del
n.1004del
c.8737del (p.Ala2913ProfsTer24)
c.6913del (p.Ala2305ProfsTer24)
c.6916del (p.Ala2306ProfsTer24)
n.5179del
c.8137del (p.Ala2713ProfsTer24)
c.7516del (p.Ala2506ProfsTer24)
c.8236del (p.Ala2746ProfsTer24)
c.8734del (p.Ala2912ProfsTer24)
c.6331del (p.Ala2111ProfsTer24)
2g.237336364C>ACA2187454COL6A3c.1381G>T
c.8118G>T (p.Pro2706=)
c.863G>T
n.1003G>T
c.8736G>T (p.Pro2912=)
c.6912G>T (p.Pro2304=)
c.6915G>T (p.Pro2305=)
n.5178G>T
c.8136G>T (p.Pro2712=)
c.7515G>T (p.Pro2505=)
c.8235G>T (p.Pro2745=)
c.8733G>T (p.Pro2911=)
c.6330G>T (p.Pro2110=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336364C=CA1337607159COL6A3c.1381G=
c.8118G= (p.Pro2706=)
c.863G=
n.1003G=
c.8736G= (p.Pro2912=)
c.6912G= (p.Pro2304=)
c.6915G= (p.Pro2305=)
n.5178G=
c.8136G= (p.Pro2712=)
c.7515G= (p.Pro2505=)
c.8235G= (p.Pro2745=)
c.8733G= (p.Pro2911=)
c.6330G= (p.Pro2110=)
2g.237336364C>GCA431702129COL6A3c.1381G>C
c.8118G>C (p.Pro2706=)
c.863G>C
n.1003G>C
c.8736G>C (p.Pro2912=)
c.6912G>C (p.Pro2304=)
c.6915G>C (p.Pro2305=)
n.5178G>C
c.8136G>C (p.Pro2712=)
c.7515G>C (p.Pro2505=)
c.8235G>C (p.Pro2745=)
c.8733G>C (p.Pro2911=)
c.6330G>C (p.Pro2110=)
2g.237336364C>TCA2187455COL6A3c.1381G>A
c.8118G>A (p.Pro2706=)
c.863G>A
n.1003G>A
c.8736G>A (p.Pro2912=)
c.6912G>A (p.Pro2304=)
c.6915G>A (p.Pro2305=)
n.5178G>A
c.8136G>A (p.Pro2712=)
c.7515G>A (p.Pro2505=)
c.8235G>A (p.Pro2745=)
c.8733G>A (p.Pro2911=)
c.6330G>A (p.Pro2110=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336364_237336379delinsCGGCTTTGCAGCGGCTCA1337607160COL6A3c.1366_1381delinsAGCCGCTGCAAAGCCG
c.8103_8118delinsAGCCGCTGCAAAGCCG (p.Pro2701=)
c.848_863delinsAGCCGCTGCAAAGCCG
n.988_1003delinsAGCCGCTGCAAAGCCG
c.8721_8736delinsAGCCGCTGCAAAGCCG (p.Pro2907=)
c.6897_6912delinsAGCCGCTGCAAAGCCG (p.Pro2299=)
c.6900_6915delinsAGCCGCTGCAAAGCCG (p.Pro2300=)
n.5163_5178delinsAGCCGCTGCAAAGCCG
c.8121_8136delinsAGCCGCTGCAAAGCCG (p.Pro2707=)
c.7500_7515delinsAGCCGCTGCAAAGCCG (p.Pro2500=)
c.8220_8235delinsAGCCGCTGCAAAGCCG (p.Pro2740=)
c.8718_8733delinsAGCCGCTGCAAAGCCG (p.Pro2906=)
c.6315_6330delinsAGCCGCTGCAAAGCCG (p.Pro2105=)
2g.237336365G>ACA179921COL6A3c.1380C>T
c.8117C>T (p.Pro2706Leu)
c.862C>T
n.1002C>T
c.8735C>T (p.Pro2912Leu)
c.6911C>T (p.Pro2304Leu)
c.6914C>T (p.Pro2305Leu)
n.5177C>T
c.8135C>T (p.Pro2712Leu)
c.7514C>T (p.Pro2505Leu)
c.8234C>T (p.Pro2745Leu)
c.8732C>T (p.Pro2911Leu)
c.6329C>T (p.Pro2110Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237336365G>CCA351191747COL6A3c.1380C>G
c.8117C>G (p.Pro2706Arg)
c.862C>G
n.1002C>G
c.8735C>G (p.Pro2912Arg)
c.6911C>G (p.Pro2304Arg)
c.6914C>G (p.Pro2305Arg)
n.5177C>G
c.8135C>G (p.Pro2712Arg)
c.7514C>G (p.Pro2505Arg)
c.8234C>G (p.Pro2745Arg)
c.8732C>G (p.Pro2911Arg)
c.6329C>G (p.Pro2110Arg)
2g.237336365G=CA1337607162COL6A3c.1380C=
c.8117C= (p.Pro2706=)
c.862C=
n.1002C=
c.8735C= (p.Pro2912=)
c.6911C= (p.Pro2304=)
c.6914C= (p.Pro2305=)
n.5177C=
c.8135C= (p.Pro2712=)
c.7514C= (p.Pro2505=)
c.8234C= (p.Pro2745=)
c.8732C= (p.Pro2911=)
c.6329C= (p.Pro2110=)
2g.237336365G>TCA351191748COL6A3c.1380C>A
c.8117C>A (p.Pro2706Gln)
c.862C>A
n.1002C>A
c.8735C>A (p.Pro2912Gln)
c.6911C>A (p.Pro2304Gln)
c.6914C>A (p.Pro2305Gln)
n.5177C>A
c.8135C>A (p.Pro2712Gln)
c.7514C>A (p.Pro2505Gln)
c.8234C>A (p.Pro2745Gln)
c.8732C>A (p.Pro2911Gln)
c.6329C>A (p.Pro2110Gln)
 gnomAD v4
2g.237336370_237336384delCA1337607161COL6A3c.1366_1380del
c.8103_8117del (p.Ala2702_Pro2706del)
c.848_862del
n.988_1002del
c.8721_8735del (p.Ala2908_Pro2912del)
c.6897_6911del (p.Ala2300_Pro2304del)
c.6900_6914del (p.Ala2301_Pro2305del)
n.5163_5177del
c.8121_8135del (p.Ala2708_Pro2712del)
c.7500_7514del (p.Ala2501_Pro2505del)
c.8220_8234del (p.Ala2741_Pro2745del)
c.8718_8732del (p.Ala2907_Pro2911del)
c.6315_6329del (p.Ala2106_Pro2110del)
 dbSNP gnomAD v4
2g.237336366G>ACA351191749COL6A3c.1379C>T
c.8116C>T (p.Pro2706Ser)
c.861C>T
n.1001C>T
c.8734C>T (p.Pro2912Ser)
c.6910C>T (p.Pro2304Ser)
c.6913C>T (p.Pro2305Ser)
n.5176C>T
c.8134C>T (p.Pro2712Ser)
c.7513C>T (p.Pro2505Ser)
c.8233C>T (p.Pro2745Ser)
c.8731C>T (p.Pro2911Ser)
c.6328C>T (p.Pro2110Ser)
2g.237336366G>CCA351191750COL6A3c.1379C>G
c.8116C>G (p.Pro2706Ala)
c.861C>G
n.1001C>G
c.8734C>G (p.Pro2912Ala)
c.6910C>G (p.Pro2304Ala)
c.6913C>G (p.Pro2305Ala)
n.5176C>G
c.8134C>G (p.Pro2712Ala)
c.7513C>G (p.Pro2505Ala)
c.8233C>G (p.Pro2745Ala)
c.8731C>G (p.Pro2911Ala)
c.6328C>G (p.Pro2110Ala)
2g.237336366G>TCA351191751COL6A3c.1379C>A
c.8116C>A (p.Pro2706Thr)
c.861C>A
n.1001C>A
c.8734C>A (p.Pro2912Thr)
c.6910C>A (p.Pro2304Thr)
c.6913C>A (p.Pro2305Thr)
n.5176C>A
c.8134C>A (p.Pro2712Thr)
c.7513C>A (p.Pro2505Thr)
c.8233C>A (p.Pro2745Thr)
c.8731C>A (p.Pro2911Thr)
c.6328C>A (p.Pro2110Thr)
2g.237336367C>ACA351191753COL6A3c.1378G>T
c.8115G>T (p.Lys2705Asn)
c.860G>T
n.1000G>T
c.8733G>T (p.Lys2911Asn)
c.6909G>T (p.Lys2303Asn)
c.6912G>T (p.Lys2304Asn)
n.5175G>T
c.8133G>T (p.Lys2711Asn)
c.7512G>T (p.Lys2504Asn)
c.8232G>T (p.Lys2744Asn)
c.8730G>T (p.Lys2910Asn)
c.6327G>T (p.Lys2109Asn)
 COSMIC
2g.237336367C=CA1337607163COL6A3c.1378G=
c.8115G= (p.Lys2705=)
c.860G=
n.1000G=
c.8733G= (p.Lys2911=)
c.6909G= (p.Lys2303=)
c.6912G= (p.Lys2304=)
n.5175G=
c.8133G= (p.Lys2711=)
c.7512G= (p.Lys2504=)
c.8232G= (p.Lys2744=)
c.8730G= (p.Lys2910=)
c.6327G= (p.Lys2109=)
2g.237336367C>GCA351191752COL6A3c.1378G>C
c.8115G>C (p.Lys2705Asn)
c.860G>C
n.1000G>C
c.8733G>C (p.Lys2911Asn)
c.6909G>C (p.Lys2303Asn)
c.6912G>C (p.Lys2304Asn)
n.5175G>C
c.8133G>C (p.Lys2711Asn)
c.7512G>C (p.Lys2504Asn)
c.8232G>C (p.Lys2744Asn)
c.8730G>C (p.Lys2910Asn)
c.6327G>C (p.Lys2109Asn)
 dbSNP
2g.237336367C>TCA431702148COL6A3c.1378G>A
c.8115G>A (p.Lys2705=)
c.860G>A
n.1000G>A
c.8733G>A (p.Lys2911=)
c.6909G>A (p.Lys2303=)
c.6912G>A (p.Lys2304=)
n.5175G>A
c.8133G>A (p.Lys2711=)
c.7512G>A (p.Lys2504=)
c.8232G>A (p.Lys2744=)
c.8730G>A (p.Lys2910=)
c.6327G>A (p.Lys2109=)
 gnomAD v4
2g.237336368T>ACA351191754COL6A3c.1377A>T
c.8114A>T (p.Lys2705Met)
c.859A>T
n.999A>T
c.8732A>T (p.Lys2911Met)
c.6908A>T (p.Lys2303Met)
c.6911A>T (p.Lys2304Met)
n.5174A>T
c.8132A>T (p.Lys2711Met)
c.7511A>T (p.Lys2504Met)
c.8231A>T (p.Lys2744Met)
c.8729A>T (p.Lys2910Met)
c.6326A>T (p.Lys2109Met)
2g.237336368T>CCA351191755COL6A3c.1377A>G
c.8114A>G (p.Lys2705Arg)
c.859A>G
n.999A>G
c.8732A>G (p.Lys2911Arg)
c.6908A>G (p.Lys2303Arg)
c.6911A>G (p.Lys2304Arg)
n.5174A>G
c.8132A>G (p.Lys2711Arg)
c.7511A>G (p.Lys2504Arg)
c.8231A>G (p.Lys2744Arg)
c.8729A>G (p.Lys2910Arg)
c.6326A>G (p.Lys2109Arg)
2g.237336368T>GCA351191756COL6A3c.1377A>C
c.8114A>C (p.Lys2705Thr)
c.859A>C
n.999A>C
c.8732A>C (p.Lys2911Thr)
c.6908A>C (p.Lys2303Thr)
c.6911A>C (p.Lys2304Thr)
n.5174A>C
c.8132A>C (p.Lys2711Thr)
c.7511A>C (p.Lys2504Thr)
c.8231A>C (p.Lys2744Thr)
c.8729A>C (p.Lys2910Thr)
c.6326A>C (p.Lys2109Thr)
2g.237336369T>ACA351191757COL6A3c.1376A>T
c.8113A>T (p.Lys2705Ter)
c.858A>T
n.998A>T
c.8731A>T (p.Lys2911Ter)
c.6907A>T (p.Lys2303Ter)
c.6910A>T (p.Lys2304Ter)
n.5173A>T
c.8131A>T (p.Lys2711Ter)
c.7510A>T (p.Lys2504Ter)
c.8230A>T (p.Lys2744Ter)
c.8728A>T (p.Lys2910Ter)
c.6325A>T (p.Lys2109Ter)
2g.237336369T>CCA351191758COL6A3c.1376A>G
c.8113A>G (p.Lys2705Glu)
c.858A>G
n.998A>G
c.8731A>G (p.Lys2911Glu)
c.6907A>G (p.Lys2303Glu)
c.6910A>G (p.Lys2304Glu)
n.5173A>G
c.8131A>G (p.Lys2711Glu)
c.7510A>G (p.Lys2504Glu)
c.8230A>G (p.Lys2744Glu)
c.8728A>G (p.Lys2910Glu)
c.6325A>G (p.Lys2109Glu)
2g.237336369T>GCA351191759COL6A3c.1376A>C
c.8113A>C (p.Lys2705Gln)
c.858A>C
n.998A>C
c.8731A>C (p.Lys2911Gln)
c.6907A>C (p.Lys2303Gln)
c.6910A>C (p.Lys2304Gln)
n.5173A>C
c.8131A>C (p.Lys2711Gln)
c.7510A>C (p.Lys2504Gln)
c.8230A>C (p.Lys2744Gln)
c.8728A>C (p.Lys2910Gln)
c.6325A>C (p.Lys2109Gln)
2g.237336370T>ACA431702156COL6A3c.1375A>T
c.8112A>T (p.Ala2704=)
c.857A>T
n.997A>T
c.8730A>T (p.Ala2910=)
c.6906A>T (p.Ala2302=)
c.6909A>T (p.Ala2303=)
n.5172A>T
c.8130A>T (p.Ala2710=)
c.7509A>T (p.Ala2503=)
c.8229A>T (p.Ala2743=)
c.8727A>T (p.Ala2909=)
c.6324A>T (p.Ala2108=)
2g.237336370T>CCA431702158COL6A3c.1375A>G
c.8112A>G (p.Ala2704=)
c.857A>G
n.997A>G
c.8730A>G (p.Ala2910=)
c.6906A>G (p.Ala2302=)
c.6909A>G (p.Ala2303=)
n.5172A>G
c.8130A>G (p.Ala2710=)
c.7509A>G (p.Ala2503=)
c.8229A>G (p.Ala2743=)
c.8727A>G (p.Ala2909=)
c.6324A>G (p.Ala2108=)
2g.237336370T>GCA431702159COL6A3c.1375A>C
c.8112A>C (p.Ala2704=)
c.857A>C
n.997A>C
c.8730A>C (p.Ala2910=)
c.6906A>C (p.Ala2302=)
c.6909A>C (p.Ala2303=)
n.5172A>C
c.8130A>C (p.Ala2710=)
c.7509A>C (p.Ala2503=)
c.8229A>C (p.Ala2743=)
c.8727A>C (p.Ala2909=)
c.6324A>C (p.Ala2108=)
2g.237336371G>ACA2187456COL6A3c.1374C>T
c.8111C>T (p.Ala2704Val)
c.856C>T
n.996C>T
c.8729C>T (p.Ala2910Val)
c.6905C>T (p.Ala2302Val)
c.6908C>T (p.Ala2303Val)
n.5171C>T
c.8129C>T (p.Ala2710Val)
c.7508C>T (p.Ala2503Val)
c.8228C>T (p.Ala2743Val)
c.8726C>T (p.Ala2909Val)
c.6323C>T (p.Ala2108Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336371G>CCA351191760COL6A3c.1374C>G
c.8111C>G (p.Ala2704Gly)
c.856C>G
n.996C>G
c.8729C>G (p.Ala2910Gly)
c.6905C>G (p.Ala2302Gly)
c.6908C>G (p.Ala2303Gly)
n.5171C>G
c.8129C>G (p.Ala2710Gly)
c.7508C>G (p.Ala2503Gly)
c.8228C>G (p.Ala2743Gly)
c.8726C>G (p.Ala2909Gly)
c.6323C>G (p.Ala2108Gly)
2g.237336371G=CA1337607164COL6A3c.1374C=
c.8111C= (p.Ala2704=)
c.856C=
n.996C=
c.8729C= (p.Ala2910=)
c.6905C= (p.Ala2302=)
c.6908C= (p.Ala2303=)
n.5171C=
c.8129C= (p.Ala2710=)
c.7508C= (p.Ala2503=)
c.8228C= (p.Ala2743=)
c.8726C= (p.Ala2909=)
c.6323C= (p.Ala2108=)
2g.237336371G>TCA351191761COL6A3c.1374C>A
c.8111C>A (p.Ala2704Glu)
c.856C>A
n.996C>A
c.8729C>A (p.Ala2910Glu)
c.6905C>A (p.Ala2302Glu)
c.6908C>A (p.Ala2303Glu)
n.5171C>A
c.8129C>A (p.Ala2710Glu)
c.7508C>A (p.Ala2503Glu)
c.8228C>A (p.Ala2743Glu)
c.8726C>A (p.Ala2909Glu)
c.6323C>A (p.Ala2108Glu)
2g.237336372C>ACA351191762COL6A3c.1373G>T
c.8110G>T (p.Ala2704Ser)
c.855G>T
n.995G>T
c.8728G>T (p.Ala2910Ser)
c.6904G>T (p.Ala2302Ser)
c.6907G>T (p.Ala2303Ser)
n.5170G>T
c.8128G>T (p.Ala2710Ser)
c.7507G>T (p.Ala2503Ser)
c.8227G>T (p.Ala2743Ser)
c.8725G>T (p.Ala2909Ser)
c.6322G>T (p.Ala2108Ser)
2g.237336372C>GCA351191763COL6A3c.1373G>C
c.8110G>C (p.Ala2704Pro)
c.855G>C
n.995G>C
c.8728G>C (p.Ala2910Pro)
c.6904G>C (p.Ala2302Pro)
c.6907G>C (p.Ala2303Pro)
n.5170G>C
c.8128G>C (p.Ala2710Pro)
c.7507G>C (p.Ala2503Pro)
c.8227G>C (p.Ala2743Pro)
c.8725G>C (p.Ala2909Pro)
c.6322G>C (p.Ala2108Pro)
2g.237336372C>TCA351191764COL6A3c.1373G>A
c.8110G>A (p.Ala2704Thr)
c.855G>A
n.995G>A
c.8728G>A (p.Ala2910Thr)
c.6904G>A (p.Ala2302Thr)
c.6907G>A (p.Ala2303Thr)
n.5170G>A
c.8128G>A (p.Ala2710Thr)
c.7507G>A (p.Ala2503Thr)
c.8227G>A (p.Ala2743Thr)
c.8725G>A (p.Ala2909Thr)
c.6322G>A (p.Ala2108Thr)
2g.237336373A>CCA431702173COL6A3c.1372T>G
c.8109T>G (p.Ala2703=)
c.854T>G
n.994T>G
c.8727T>G (p.Ala2909=)
c.6903T>G (p.Ala2301=)
c.6906T>G (p.Ala2302=)
n.5169T>G
c.8127T>G (p.Ala2709=)
c.7506T>G (p.Ala2502=)
c.8226T>G (p.Ala2742=)
c.8724T>G (p.Ala2908=)
c.6321T>G (p.Ala2107=)
2g.237336373A>GCA431702177COL6A3c.1372T>C
c.8109T>C (p.Ala2703=)
c.854T>C
n.994T>C
c.8727T>C (p.Ala2909=)
c.6903T>C (p.Ala2301=)
c.6906T>C (p.Ala2302=)
n.5169T>C
c.8127T>C (p.Ala2709=)
c.7506T>C (p.Ala2502=)
c.8226T>C (p.Ala2742=)
c.8724T>C (p.Ala2908=)
c.6321T>C (p.Ala2107=)
2g.237336373A>TCA431702175COL6A3c.1372T>A
c.8109T>A (p.Ala2703=)
c.854T>A
n.994T>A
c.8727T>A (p.Ala2909=)
c.6903T>A (p.Ala2301=)
c.6906T>A (p.Ala2302=)
n.5169T>A
c.8127T>A (p.Ala2709=)
c.7506T>A (p.Ala2502=)
c.8226T>A (p.Ala2742=)
c.8724T>A (p.Ala2908=)
c.6321T>A (p.Ala2107=)
2g.237336374G>ACA351191765COL6A3c.1371C>T
c.8108C>T (p.Ala2703Val)
c.853C>T
n.993C>T
c.8726C>T (p.Ala2909Val)
c.6902C>T (p.Ala2301Val)
c.6905C>T (p.Ala2302Val)
n.5168C>T
c.8126C>T (p.Ala2709Val)
c.7505C>T (p.Ala2502Val)
c.8225C>T (p.Ala2742Val)
c.8723C>T (p.Ala2908Val)
c.6320C>T (p.Ala2107Val)
 dbSNP gnomAD v2 gnomAD v4
2g.237336374G>CCA351191766COL6A3c.1371C>G
c.8108C>G (p.Ala2703Gly)
c.853C>G
n.993C>G
c.8726C>G (p.Ala2909Gly)
c.6902C>G (p.Ala2301Gly)
c.6905C>G (p.Ala2302Gly)
n.5168C>G
c.8126C>G (p.Ala2709Gly)
c.7505C>G (p.Ala2502Gly)
c.8225C>G (p.Ala2742Gly)
c.8723C>G (p.Ala2908Gly)
c.6320C>G (p.Ala2107Gly)
2g.237336374G=CA1337607165COL6A3c.1371C=
c.8108C= (p.Ala2703=)
c.853C=
n.993C=
c.8726C= (p.Ala2909=)
c.6902C= (p.Ala2301=)
c.6905C= (p.Ala2302=)
n.5168C=
c.8126C= (p.Ala2709=)
c.7505C= (p.Ala2502=)
c.8225C= (p.Ala2742=)
c.8723C= (p.Ala2908=)
c.6320C= (p.Ala2107=)
2g.237336374G>TCA351191767COL6A3c.1371C>A
c.8108C>A (p.Ala2703Asp)
c.853C>A
n.993C>A
c.8726C>A (p.Ala2909Asp)
c.6902C>A (p.Ala2301Asp)
c.6905C>A (p.Ala2302Asp)
n.5168C>A
c.8126C>A (p.Ala2709Asp)
c.7505C>A (p.Ala2502Asp)
c.8225C>A (p.Ala2742Asp)
c.8723C>A (p.Ala2908Asp)
c.6320C>A (p.Ala2107Asp)
2g.237336375C>ACA2187458COL6A3c.1370G>T
c.8107G>T (p.Ala2703Ser)
c.852G>T
n.992G>T
c.8725G>T (p.Ala2909Ser)
c.6901G>T (p.Ala2301Ser)
c.6904G>T (p.Ala2302Ser)
n.5167G>T
c.8125G>T (p.Ala2709Ser)
c.7504G>T (p.Ala2502Ser)
c.8224G>T (p.Ala2742Ser)
c.8722G>T (p.Ala2908Ser)
c.6319G>T (p.Ala2107Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336375C=CA1337607166COL6A3c.1370G=
c.8107G= (p.Ala2703=)
c.852G=
n.992G=
c.8725G= (p.Ala2909=)
c.6901G= (p.Ala2301=)
c.6904G= (p.Ala2302=)
n.5167G=
c.8125G= (p.Ala2709=)
c.7504G= (p.Ala2502=)
c.8224G= (p.Ala2742=)
c.8722G= (p.Ala2908=)
c.6319G= (p.Ala2107=)
2g.237336375C>GCA67830635COL6A3c.1370G>C
c.8107G>C (p.Ala2703Pro)
c.852G>C
n.992G>C
c.8725G>C (p.Ala2909Pro)
c.6901G>C (p.Ala2301Pro)
c.6904G>C (p.Ala2302Pro)
n.5167G>C
c.8125G>C (p.Ala2709Pro)
c.7504G>C (p.Ala2502Pro)
c.8224G>C (p.Ala2742Pro)
c.8722G>C (p.Ala2908Pro)
c.6319G>C (p.Ala2107Pro)
 dbSNP
2g.237336375C>TCA2187457COL6A3c.1370G>A
c.8107G>A (p.Ala2703Thr)
c.852G>A
n.992G>A
c.8725G>A (p.Ala2909Thr)
c.6901G>A (p.Ala2301Thr)
c.6904G>A (p.Ala2302Thr)
n.5167G>A
c.8125G>A (p.Ala2709Thr)
c.7504G>A (p.Ala2502Thr)
c.8224G>A (p.Ala2742Thr)
c.8722G>A (p.Ala2908Thr)
c.6319G>A (p.Ala2107Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237336376G>ACA245534COL6A3c.1369C>T
c.8106C>T (p.Ala2702=)
c.851C>T
n.991C>T
c.8724C>T (p.Ala2908=)
c.6900C>T (p.Ala2300=)
c.6903C>T (p.Ala2301=)
n.5166C>T
c.8124C>T (p.Ala2708=)
c.7503C>T (p.Ala2501=)
c.8223C>T (p.Ala2741=)
c.8721C>T (p.Ala2907=)
c.6318C>T (p.Ala2106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336376G>CCA431702202COL6A3c.1369C>G
c.8106C>G (p.Ala2702=)
c.851C>G
n.991C>G
c.8724C>G (p.Ala2908=)
c.6900C>G (p.Ala2300=)
c.6903C>G (p.Ala2301=)
n.5166C>G
c.8124C>G (p.Ala2708=)
c.7503C>G (p.Ala2501=)
c.8223C>G (p.Ala2741=)
c.8721C>G (p.Ala2907=)
c.6318C>G (p.Ala2106=)
2g.237336376G=CA1337607167COL6A3c.1369C=
c.8106C= (p.Ala2702=)
c.851C=
n.991C=
c.8724C= (p.Ala2908=)
c.6900C= (p.Ala2300=)
c.6903C= (p.Ala2301=)
n.5166C=
c.8124C= (p.Ala2708=)
c.7503C= (p.Ala2501=)
c.8223C= (p.Ala2741=)
c.8721C= (p.Ala2907=)
c.6318C= (p.Ala2106=)
2g.237336376G>TCA431702205COL6A3c.1369C>A
c.8106C>A (p.Ala2702=)
c.851C>A
n.991C>A
c.8724C>A (p.Ala2908=)
c.6900C>A (p.Ala2300=)
c.6903C>A (p.Ala2301=)
n.5166C>A
c.8124C>A (p.Ala2708=)
c.7503C>A (p.Ala2501=)
c.8223C>A (p.Ala2741=)
c.8721C>A (p.Ala2907=)
c.6318C>A (p.Ala2106=)
2g.237336377G>ACA351191768COL6A3c.1368C>T
c.8105C>T (p.Ala2702Val)
c.850C>T
n.990C>T
c.8723C>T (p.Ala2908Val)
c.6899C>T (p.Ala2300Val)
c.6902C>T (p.Ala2301Val)
n.5165C>T
c.8123C>T (p.Ala2708Val)
c.7502C>T (p.Ala2501Val)
c.8222C>T (p.Ala2741Val)
c.8720C>T (p.Ala2907Val)
c.6317C>T (p.Ala2106Val)
2g.237336377G>CCA351191769COL6A3c.1368C>G
c.8105C>G (p.Ala2702Gly)
c.850C>G
n.990C>G
c.8723C>G (p.Ala2908Gly)
c.6899C>G (p.Ala2300Gly)
c.6902C>G (p.Ala2301Gly)
n.5165C>G
c.8123C>G (p.Ala2708Gly)
c.7502C>G (p.Ala2501Gly)
c.8222C>G (p.Ala2741Gly)
c.8720C>G (p.Ala2907Gly)
c.6317C>G (p.Ala2106Gly)
 ClinVar
2g.237336377G=CA1337607168COL6A3c.1368C=
c.8105C= (p.Ala2702=)
c.850C=
n.990C=
c.8723C= (p.Ala2908=)
c.6899C= (p.Ala2300=)
c.6902C= (p.Ala2301=)
n.5165C=
c.8123C= (p.Ala2708=)
c.7502C= (p.Ala2501=)
c.8222C= (p.Ala2741=)
c.8720C= (p.Ala2907=)
c.6317C= (p.Ala2106=)
2g.237336377G>TCA351191770COL6A3c.1368C>A
c.8105C>A (p.Ala2702Asp)
c.850C>A
n.990C>A
c.8723C>A (p.Ala2908Asp)
c.6899C>A (p.Ala2300Asp)
c.6902C>A (p.Ala2301Asp)
n.5165C>A
c.8123C>A (p.Ala2708Asp)
c.7502C>A (p.Ala2501Asp)
c.8222C>A (p.Ala2741Asp)
c.8720C>A (p.Ala2907Asp)
c.6317C>A (p.Ala2106Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.237336378C>ACA351191771COL6A3c.1367G>T
c.8104G>T (p.Ala2702Ser)
c.849G>T
n.989G>T
c.8722G>T (p.Ala2908Ser)
c.6898G>T (p.Ala2300Ser)
c.6901G>T (p.Ala2301Ser)
n.5164G>T
c.8122G>T (p.Ala2708Ser)
c.7501G>T (p.Ala2501Ser)
c.8221G>T (p.Ala2741Ser)
c.8719G>T (p.Ala2907Ser)
c.6316G>T (p.Ala2106Ser)
2g.237336378C>GCA351191773COL6A3c.1367G>C
c.8104G>C (p.Ala2702Pro)
c.849G>C
n.989G>C
c.8722G>C (p.Ala2908Pro)
c.6898G>C (p.Ala2300Pro)
c.6901G>C (p.Ala2301Pro)
n.5164G>C
c.8122G>C (p.Ala2708Pro)
c.7501G>C (p.Ala2501Pro)
c.8221G>C (p.Ala2741Pro)
c.8719G>C (p.Ala2907Pro)
c.6316G>C (p.Ala2106Pro)
2g.237336378C>TCA351191772COL6A3c.1367G>A
c.8104G>A (p.Ala2702Thr)
c.849G>A
n.989G>A
c.8722G>A (p.Ala2908Thr)
c.6898G>A (p.Ala2300Thr)
c.6901G>A (p.Ala2301Thr)
n.5164G>A
c.8122G>A (p.Ala2708Thr)
c.7501G>A (p.Ala2501Thr)
c.8221G>A (p.Ala2741Thr)
c.8719G>A (p.Ala2907Thr)
c.6316G>A (p.Ala2106Thr)
2g.237336379T>ACA431702220COL6A3c.1366A>T
c.8103A>T (p.Pro2701=)
c.848A>T
n.988A>T
c.8721A>T (p.Pro2907=)
c.6897A>T (p.Pro2299=)
c.6900A>T (p.Pro2300=)
n.5163A>T
c.8121A>T (p.Pro2707=)
c.7500A>T (p.Pro2500=)
c.8220A>T (p.Pro2740=)
c.8718A>T (p.Pro2906=)
c.6315A>T (p.Pro2105=)
2g.237336379T>CCA431702221COL6A3c.1366A>G
c.8103A>G (p.Pro2701=)
c.848A>G
n.988A>G
c.8721A>G (p.Pro2907=)
c.6897A>G (p.Pro2299=)
c.6900A>G (p.Pro2300=)
n.5163A>G
c.8121A>G (p.Pro2707=)
c.7500A>G (p.Pro2500=)
c.8220A>G (p.Pro2740=)
c.8718A>G (p.Pro2906=)
c.6315A>G (p.Pro2105=)
2g.237336379T>GCA431702224COL6A3c.1366A>C
c.8103A>C (p.Pro2701=)
c.848A>C
n.988A>C
c.8721A>C (p.Pro2907=)
c.6897A>C (p.Pro2299=)
c.6900A>C (p.Pro2300=)
n.5163A>C
c.8121A>C (p.Pro2707=)
c.7500A>C (p.Pro2500=)
c.8220A>C (p.Pro2740=)
c.8718A>C (p.Pro2906=)
c.6315A>C (p.Pro2105=)
2g.237336380G>ACA67830636COL6A3c.1365C>T
c.8102C>T (p.Pro2701Leu)
c.847C>T
n.987C>T
c.8720C>T (p.Pro2907Leu)
c.6896C>T (p.Pro2299Leu)
c.6899C>T (p.Pro2300Leu)
n.5162C>T
c.8120C>T (p.Pro2707Leu)
c.7499C>T (p.Pro2500Leu)
c.8219C>T (p.Pro2740Leu)
c.8717C>T (p.Pro2906Leu)
c.6314C>T (p.Pro2105Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.237336380G>CCA351191774COL6A3c.1365C>G
c.8102C>G (p.Pro2701Arg)
c.847C>G
n.987C>G
c.8720C>G (p.Pro2907Arg)
c.6896C>G (p.Pro2299Arg)
c.6899C>G (p.Pro2300Arg)
n.5162C>G
c.8120C>G (p.Pro2707Arg)
c.7499C>G (p.Pro2500Arg)
c.8219C>G (p.Pro2740Arg)
c.8717C>G (p.Pro2906Arg)
c.6314C>G (p.Pro2105Arg)
2g.237336380G=CA1337607169COL6A3c.1365C=
c.8102C= (p.Pro2701=)
c.847C=
n.987C=
c.8720C= (p.Pro2907=)
c.6896C= (p.Pro2299=)
c.6899C= (p.Pro2300=)
n.5162C=
c.8120C= (p.Pro2707=)
c.7499C= (p.Pro2500=)
c.8219C= (p.Pro2740=)
c.8717C= (p.Pro2906=)
c.6314C= (p.Pro2105=)
2g.237336380G>TCA351191775COL6A3c.1365C>A
c.8102C>A (p.Pro2701Gln)
c.847C>A
n.987C>A
c.8720C>A (p.Pro2907Gln)
c.6896C>A (p.Pro2299Gln)
c.6899C>A (p.Pro2300Gln)
n.5162C>A
c.8120C>A (p.Pro2707Gln)
c.7499C>A (p.Pro2500Gln)
c.8219C>A (p.Pro2740Gln)
c.8717C>A (p.Pro2906Gln)
c.6314C>A (p.Pro2105Gln)
2g.237336381G>ACA351191776COL6A3c.1364C>T
c.8101C>T (p.Pro2701Ser)
c.846C>T
n.986C>T
c.8719C>T (p.Pro2907Ser)
c.6895C>T (p.Pro2299Ser)
c.6898C>T (p.Pro2300Ser)
n.5161C>T
c.8119C>T (p.Pro2707Ser)
c.7498C>T (p.Pro2500Ser)
c.8218C>T (p.Pro2740Ser)
c.8716C>T (p.Pro2906Ser)
c.6313C>T (p.Pro2105Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.237336381G>CCA351191777COL6A3c.1364C>G
c.8101C>G (p.Pro2701Ala)
c.846C>G
n.986C>G
c.8719C>G (p.Pro2907Ala)
c.6895C>G (p.Pro2299Ala)
c.6898C>G (p.Pro2300Ala)
n.5161C>G
c.8119C>G (p.Pro2707Ala)
c.7498C>G (p.Pro2500Ala)
c.8218C>G (p.Pro2740Ala)
c.8716C>G (p.Pro2906Ala)
c.6313C>G (p.Pro2105Ala)
2g.237336381G=CA1337607170COL6A3c.1364C=
c.8101C= (p.Pro2701=)
c.846C=
n.986C=
c.8719C= (p.Pro2907=)
c.6895C= (p.Pro2299=)
c.6898C= (p.Pro2300=)
n.5161C=
c.8119C= (p.Pro2707=)
c.7498C= (p.Pro2500=)
c.8218C= (p.Pro2740=)
c.8716C= (p.Pro2906=)
c.6313C= (p.Pro2105=)
2g.237336381G>TCA351191778COL6A3c.1364C>A
c.8101C>A (p.Pro2701Thr)
c.846C>A
n.986C>A
c.8719C>A (p.Pro2907Thr)
c.6895C>A (p.Pro2299Thr)
c.6898C>A (p.Pro2300Thr)
n.5161C>A
c.8119C>A (p.Pro2707Thr)
c.7498C>A (p.Pro2500Thr)
c.8218C>A (p.Pro2740Thr)
c.8716C>A (p.Pro2906Thr)
c.6313C>A (p.Pro2105Thr)
2g.237336382C>ACA351191780COL6A3c.1363G>T
c.8100G>T (p.Lys2700Asn)
c.845G>T
n.985G>T
c.8718G>T (p.Lys2906Asn)
c.6894G>T (p.Lys2298Asn)
c.6897G>T (p.Lys2299Asn)
n.5160G>T
c.8118G>T (p.Lys2706Asn)
c.7497G>T (p.Lys2499Asn)
c.8217G>T (p.Lys2739Asn)
c.8715G>T (p.Lys2905Asn)
c.6312G>T (p.Lys2104Asn)
2g.237336382C>GCA351191779COL6A3c.1363G>C
c.8100G>C (p.Lys2700Asn)
c.845G>C
n.985G>C
c.8718G>C (p.Lys2906Asn)
c.6894G>C (p.Lys2298Asn)
c.6897G>C (p.Lys2299Asn)
n.5160G>C
c.8118G>C (p.Lys2706Asn)
c.7497G>C (p.Lys2499Asn)
c.8217G>C (p.Lys2739Asn)
c.8715G>C (p.Lys2905Asn)
c.6312G>C (p.Lys2104Asn)
2g.237336382C>TCA431702237COL6A3c.1363G>A
c.8100G>A (p.Lys2700=)
c.845G>A
n.985G>A
c.8718G>A (p.Lys2906=)
c.6894G>A (p.Lys2298=)
c.6897G>A (p.Lys2299=)
n.5160G>A
c.8118G>A (p.Lys2706=)
c.7497G>A (p.Lys2499=)
c.8217G>A (p.Lys2739=)
c.8715G>A (p.Lys2905=)
c.6312G>A (p.Lys2104=)
2g.237336383T>ACA351191781COL6A3c.1362A>T
c.8099A>T (p.Lys2700Met)
c.844A>T
n.984A>T
c.8717A>T (p.Lys2906Met)
c.6893A>T (p.Lys2298Met)
c.6896A>T (p.Lys2299Met)
n.5159A>T
c.8117A>T (p.Lys2706Met)
c.7496A>T (p.Lys2499Met)
c.8216A>T (p.Lys2739Met)
c.8714A>T (p.Lys2905Met)
c.6311A>T (p.Lys2104Met)
2g.237336383T>CCA351191782COL6A3c.1362A>G
c.8099A>G (p.Lys2700Arg)
c.844A>G
n.984A>G
c.8717A>G (p.Lys2906Arg)
c.6893A>G (p.Lys2298Arg)
c.6896A>G (p.Lys2299Arg)
n.5159A>G
c.8117A>G (p.Lys2706Arg)
c.7496A>G (p.Lys2499Arg)
c.8216A>G (p.Lys2739Arg)
c.8714A>G (p.Lys2905Arg)
c.6311A>G (p.Lys2104Arg)
2g.237336383T>GCA351191783COL6A3c.1362A>C
c.8099A>C (p.Lys2700Thr)
c.844A>C
n.984A>C
c.8717A>C (p.Lys2906Thr)
c.6893A>C (p.Lys2298Thr)
c.6896A>C (p.Lys2299Thr)
n.5159A>C
c.8117A>C (p.Lys2706Thr)
c.7496A>C (p.Lys2499Thr)
c.8216A>C (p.Lys2739Thr)
c.8714A>C (p.Lys2905Thr)
c.6311A>C (p.Lys2104Thr)
2g.237336384T>ACA351191784COL6A3c.1361A>T
c.8098A>T (p.Lys2700Ter)
c.843A>T
n.983A>T
c.8716A>T (p.Lys2906Ter)
c.6892A>T (p.Lys2298Ter)
c.6895A>T (p.Lys2299Ter)
n.5158A>T
c.8116A>T (p.Lys2706Ter)
c.7495A>T (p.Lys2499Ter)
c.8215A>T (p.Lys2739Ter)
c.8713A>T (p.Lys2905Ter)
c.6310A>T (p.Lys2104Ter)
2g.237336384T>CCA351191785COL6A3c.1361A>G
c.8098A>G (p.Lys2700Glu)
c.843A>G
n.983A>G
c.8716A>G (p.Lys2906Glu)
c.6892A>G (p.Lys2298Glu)
c.6895A>G (p.Lys2299Glu)
n.5158A>G
c.8116A>G (p.Lys2706Glu)
c.7495A>G (p.Lys2499Glu)
c.8215A>G (p.Lys2739Glu)
c.8713A>G (p.Lys2905Glu)
c.6310A>G (p.Lys2104Glu)
2g.237336384T>GCA351191786COL6A3c.1361A>C
c.8098A>C (p.Lys2700Gln)
c.843A>C
n.983A>C
c.8716A>C (p.Lys2906Gln)
c.6892A>C (p.Lys2298Gln)
c.6895A>C (p.Lys2299Gln)
n.5158A>C
c.8116A>C (p.Lys2706Gln)
c.7495A>C (p.Lys2499Gln)
c.8215A>C (p.Lys2739Gln)
c.8713A>C (p.Lys2905Gln)
c.6310A>C (p.Lys2104Gln)
2g.237336385C>ACA431702251COL6A3c.1360G>T
c.8097G>T (p.Val2699=)
c.842G>T
n.982G>T
c.8715G>T (p.Val2905=)
c.6891G>T (p.Val2297=)
c.6894G>T (p.Val2298=)
n.5157G>T
c.8115G>T (p.Val2705=)
c.7494G>T (p.Val2498=)
c.8214G>T (p.Val2738=)
c.8712G>T (p.Val2904=)
c.6309G>T (p.Val2103=)
2g.237336385C=CA1337607171COL6A3c.1360G=
c.8097G= (p.Val2699=)
c.842G=
n.982G=
c.8715G= (p.Val2905=)
c.6891G= (p.Val2297=)
c.6894G= (p.Val2298=)
n.5157G=
c.8115G= (p.Val2705=)
c.7494G= (p.Val2498=)
c.8214G= (p.Val2738=)
c.8712G= (p.Val2904=)
c.6309G= (p.Val2103=)
2g.237336385C>GCA431702257COL6A3c.1360G>C
c.8097G>C (p.Val2699=)
c.842G>C
n.982G>C
c.8715G>C (p.Val2905=)
c.6891G>C (p.Val2297=)
c.6894G>C (p.Val2298=)
n.5157G>C
c.8115G>C (p.Val2705=)
c.7494G>C (p.Val2498=)
c.8214G>C (p.Val2738=)
c.8712G>C (p.Val2904=)
c.6309G>C (p.Val2103=)
2g.237336385C>TCA431702254COL6A3c.1360G>A
c.8097G>A (p.Val2699=)
c.842G>A
n.982G>A
c.8715G>A (p.Val2905=)
c.6891G>A (p.Val2297=)
c.6894G>A (p.Val2298=)
n.5157G>A
c.8115G>A (p.Val2705=)
c.7494G>A (p.Val2498=)
c.8214G>A (p.Val2738=)
c.8712G>A (p.Val2904=)
c.6309G>A (p.Val2103=)
 dbSNP gnomAD v2 gnomAD v4
2g.237336387_237336388delCA2701805778COL6A3c.1359_1360del
c.8096_8097del (p.Val2699GlufsTer26)
c.841_842del
n.981_982del
c.8714_8715del (p.Val2905GlufsTer26)
c.6890_6891del (p.Val2297GlufsTer26)
c.6893_6894del (p.Val2298GlufsTer26)
n.5156_5157del
c.8114_8115del (p.Val2705GlufsTer26)
c.7493_7494del (p.Val2498GlufsTer26)
c.8213_8214del (p.Val2738GlufsTer26)
c.8711_8712del (p.Val2904GlufsTer26)
c.6308_6309del (p.Val2103GlufsTer26)
 dbSNP
2g.237336386A=CA1337607172COL6A3c.1359T=
c.8096T= (p.Val2699=)
c.841T=
n.981T=
c.8714T= (p.Val2905=)
c.6890T= (p.Val2297=)
c.6893T= (p.Val2298=)
n.5156T=
c.8114T= (p.Val2705=)
c.7493T= (p.Val2498=)
c.8213T= (p.Val2738=)
c.8711T= (p.Val2904=)
c.6308T= (p.Val2103=)
2g.237336386A>CCA351191787COL6A3c.1359T>G
c.8096T>G (p.Val2699Gly)
c.841T>G
n.981T>G
c.8714T>G (p.Val2905Gly)
c.6890T>G (p.Val2297Gly)
c.6893T>G (p.Val2298Gly)
n.5156T>G
c.8114T>G (p.Val2705Gly)
c.7493T>G (p.Val2498Gly)
c.8213T>G (p.Val2738Gly)
c.8711T>G (p.Val2904Gly)
c.6308T>G (p.Val2103Gly)
2g.237336386A>GCA351191789COL6A3c.1359T>C
c.8096T>C (p.Val2699Ala)
c.841T>C
n.981T>C
c.8714T>C (p.Val2905Ala)
c.6890T>C (p.Val2297Ala)
c.6893T>C (p.Val2298Ala)
n.5156T>C
c.8114T>C (p.Val2705Ala)
c.7493T>C (p.Val2498Ala)
c.8213T>C (p.Val2738Ala)
c.8711T>C (p.Val2904Ala)
c.6308T>C (p.Val2103Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237336386A>TCA351191788COL6A3c.1359T>A
c.8096T>A (p.Val2699Glu)
c.841T>A
n.981T>A
c.8714T>A (p.Val2905Glu)
c.6890T>A (p.Val2297Glu)
c.6893T>A (p.Val2298Glu)
n.5156T>A
c.8114T>A (p.Val2705Glu)
c.7493T>A (p.Val2498Glu)
c.8213T>A (p.Val2738Glu)
c.8711T>A (p.Val2904Glu)
c.6308T>A (p.Val2103Glu)
2g.237336387C>ACA351191790COL6A3c.1358G>T
c.8095G>T (p.Val2699Leu)
c.840G>T
n.980G>T
c.8713G>T (p.Val2905Leu)
c.6889G>T (p.Val2297Leu)
c.6892G>T (p.Val2298Leu)
n.5155G>T
c.8113G>T (p.Val2705Leu)
c.7492G>T (p.Val2498Leu)
c.8212G>T (p.Val2738Leu)
c.8710G>T (p.Val2904Leu)
c.6307G>T (p.Val2103Leu)
 gnomAD v4
2g.237336387C=CA1337607173COL6A3c.1358G=
c.8095G= (p.Val2699=)
c.840G=
n.980G=
c.8713G= (p.Val2905=)
c.6889G= (p.Val2297=)
c.6892G= (p.Val2298=)
n.5155G=
c.8113G= (p.Val2705=)
c.7492G= (p.Val2498=)
c.8212G= (p.Val2738=)
c.8710G= (p.Val2904=)
c.6307G= (p.Val2103=)
2g.237336387C>GCA351191791COL6A3c.1358G>C
c.8095G>C (p.Val2699Leu)
c.840G>C
n.980G>C
c.8713G>C (p.Val2905Leu)
c.6889G>C (p.Val2297Leu)
c.6892G>C (p.Val2298Leu)
n.5155G>C
c.8113G>C (p.Val2705Leu)
c.7492G>C (p.Val2498Leu)
c.8212G>C (p.Val2738Leu)
c.8710G>C (p.Val2904Leu)
c.6307G>C (p.Val2103Leu)
 dbSNP gnomAD v4
2g.237336387C>TCA351191792COL6A3c.1358G>A
c.8095G>A (p.Val2699Met)
c.840G>A
n.980G>A
c.8713G>A (p.Val2905Met)
c.6889G>A (p.Val2297Met)
c.6892G>A (p.Val2298Met)
n.5155G>A
c.8113G>A (p.Val2705Met)
c.7492G>A (p.Val2498Met)
c.8212G>A (p.Val2738Met)
c.8710G>A (p.Val2904Met)
c.6307G>A (p.Val2103Met)
2g.237336388A>CCA431702273COL6A3c.1357T>G
c.8094T>G (p.Ser2698=)
c.839T>G
n.979T>G
c.8712T>G (p.Ser2904=)
c.6888T>G (p.Ser2296=)
c.6891T>G (p.Ser2297=)
n.5154T>G
c.8112T>G (p.Ser2704=)
c.7491T>G (p.Ser2497=)
c.8211T>G (p.Ser2737=)
c.8709T>G (p.Ser2903=)
c.6306T>G (p.Ser2102=)
2g.237336388A>GCA431702269COL6A3c.1357T>C
c.8094T>C (p.Ser2698=)
c.839T>C
n.979T>C
c.8712T>C (p.Ser2904=)
c.6888T>C (p.Ser2296=)
c.6891T>C (p.Ser2297=)
n.5154T>C
c.8112T>C (p.Ser2704=)
c.7491T>C (p.Ser2497=)
c.8211T>C (p.Ser2737=)
c.8709T>C (p.Ser2903=)
c.6306T>C (p.Ser2102=)
2g.237336388A>TCA431702271COL6A3c.1357T>A
c.8094T>A (p.Ser2698=)
c.839T>A
n.979T>A
c.8712T>A (p.Ser2904=)
c.6888T>A (p.Ser2296=)
c.6891T>A (p.Ser2297=)
n.5154T>A
c.8112T>A (p.Ser2704=)
c.7491T>A (p.Ser2497=)
c.8211T>A (p.Ser2737=)
c.8709T>A (p.Ser2903=)
c.6306T>A (p.Ser2102=)
2g.237336389G>ACA2187459COL6A3c.1356C>T
c.8093C>T (p.Ser2698Phe)
c.838C>T
n.978C>T
c.8711C>T (p.Ser2904Phe)
c.6887C>T (p.Ser2296Phe)
c.6890C>T (p.Ser2297Phe)
n.5153C>T
c.8111C>T (p.Ser2704Phe)
c.7490C>T (p.Ser2497Phe)
c.8210C>T (p.Ser2737Phe)
c.8708C>T (p.Ser2903Phe)
c.6305C>T (p.Ser2102Phe)
 dbSNP ExAC gnomAD v4
2g.237336389G>CCA351191793COL6A3c.1356C>G
c.8093C>G (p.Ser2698Cys)
c.838C>G
n.978C>G
c.8711C>G (p.Ser2904Cys)
c.6887C>G (p.Ser2296Cys)
c.6890C>G (p.Ser2297Cys)
n.5153C>G
c.8111C>G (p.Ser2704Cys)
c.7490C>G (p.Ser2497Cys)
c.8210C>G (p.Ser2737Cys)
c.8708C>G (p.Ser2903Cys)
c.6305C>G (p.Ser2102Cys)
2g.237336389G=CA1337607174COL6A3c.1356C=
c.8093C= (p.Ser2698=)
c.838C=
n.978C=
c.8711C= (p.Ser2904=)
c.6887C= (p.Ser2296=)
c.6890C= (p.Ser2297=)
n.5153C=
c.8111C= (p.Ser2704=)
c.7490C= (p.Ser2497=)
c.8210C= (p.Ser2737=)
c.8708C= (p.Ser2903=)
c.6305C= (p.Ser2102=)
2g.237336389G>TCA351191794COL6A3c.1356C>A
c.8093C>A (p.Ser2698Tyr)
c.838C>A
n.978C>A
c.8711C>A (p.Ser2904Tyr)
c.6887C>A (p.Ser2296Tyr)
c.6890C>A (p.Ser2297Tyr)
n.5153C>A
c.8111C>A (p.Ser2704Tyr)
c.7490C>A (p.Ser2497Tyr)
c.8210C>A (p.Ser2737Tyr)
c.8708C>A (p.Ser2903Tyr)
c.6305C>A (p.Ser2102Tyr)
2g.237336390A>CCA351191795COL6A3c.1355T>G
c.8092T>G (p.Ser2698Ala)
c.837T>G
n.977T>G
c.8710T>G (p.Ser2904Ala)
c.6886T>G (p.Ser2296Ala)
c.6889T>G (p.Ser2297Ala)
n.5152T>G
c.8110T>G (p.Ser2704Ala)
c.7489T>G (p.Ser2497Ala)
c.8209T>G (p.Ser2737Ala)
c.8707T>G (p.Ser2903Ala)
c.6304T>G (p.Ser2102Ala)
2g.237336390A>GCA351191796COL6A3c.1355T>C
c.8092T>C (p.Ser2698Pro)
c.837T>C
n.977T>C
c.8710T>C (p.Ser2904Pro)
c.6886T>C (p.Ser2296Pro)
c.6889T>C (p.Ser2297Pro)
n.5152T>C
c.8110T>C (p.Ser2704Pro)
c.7489T>C (p.Ser2497Pro)
c.8209T>C (p.Ser2737Pro)
c.8707T>C (p.Ser2903Pro)
c.6304T>C (p.Ser2102Pro)
2g.237336390A>TCA351191797COL6A3c.1355T>A
c.8092T>A (p.Ser2698Thr)
c.837T>A
n.977T>A
c.8710T>A (p.Ser2904Thr)
c.6886T>A (p.Ser2296Thr)
c.6889T>A (p.Ser2297Thr)
n.5152T>A
c.8110T>A (p.Ser2704Thr)
c.7489T>A (p.Ser2497Thr)
c.8209T>A (p.Ser2737Thr)
c.8707T>A (p.Ser2903Thr)
c.6304T>A (p.Ser2102Thr)
2g.237336391T>ACA431702288COL6A3c.1354A>T
c.8091A>T (p.Pro2697=)
c.836A>T
n.976A>T
c.8709A>T (p.Pro2903=)
c.6885A>T (p.Pro2295=)
c.6888A>T (p.Pro2296=)
n.5151A>T
c.8109A>T (p.Pro2703=)
c.7488A>T (p.Pro2496=)
c.8208A>T (p.Pro2736=)
c.8706A>T (p.Pro2902=)
c.6303A>T (p.Pro2101=)
2g.237336391T>CCA431702290COL6A3c.1354A>G
c.8091A>G (p.Pro2697=)
c.836A>G
n.976A>G
c.8709A>G (p.Pro2903=)
c.6885A>G (p.Pro2295=)
c.6888A>G (p.Pro2296=)
n.5151A>G
c.8109A>G (p.Pro2703=)
c.7488A>G (p.Pro2496=)
c.8208A>G (p.Pro2736=)
c.8706A>G (p.Pro2902=)
c.6303A>G (p.Pro2101=)
 ClinVar dbSNP gnomAD v4
2g.237336391T>GCA2187460COL6A3c.1354A>C
c.8091A>C (p.Pro2697=)
c.836A>C
n.976A>C
c.8709A>C (p.Pro2903=)
c.6885A>C (p.Pro2295=)
c.6888A>C (p.Pro2296=)
n.5151A>C
c.8109A>C (p.Pro2703=)
c.7488A>C (p.Pro2496=)
c.8208A>C (p.Pro2736=)
c.8706A>C (p.Pro2902=)
c.6303A>C (p.Pro2101=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336391T=CA1337607175COL6A3c.1354A=
c.8091A= (p.Pro2697=)
c.836A=
n.976A=
c.8709A= (p.Pro2903=)
c.6885A= (p.Pro2295=)
c.6888A= (p.Pro2296=)
n.5151A=
c.8109A= (p.Pro2703=)
c.7488A= (p.Pro2496=)
c.8208A= (p.Pro2736=)
c.8706A= (p.Pro2902=)
c.6303A= (p.Pro2101=)
2g.237336392G>ACA351191798COL6A3c.1353C>T
c.8090C>T (p.Pro2697Leu)
c.835C>T
n.975C>T
c.8708C>T (p.Pro2903Leu)
c.6884C>T (p.Pro2295Leu)
c.6887C>T (p.Pro2296Leu)
n.5150C>T
c.8108C>T (p.Pro2703Leu)
c.7487C>T (p.Pro2496Leu)
c.8207C>T (p.Pro2736Leu)
c.8705C>T (p.Pro2902Leu)
c.6302C>T (p.Pro2101Leu)
2g.237336392G>CCA351191800COL6A3c.1353C>G
c.8090C>G (p.Pro2697Arg)
c.835C>G
n.975C>G
c.8708C>G (p.Pro2903Arg)
c.6884C>G (p.Pro2295Arg)
c.6887C>G (p.Pro2296Arg)
n.5150C>G
c.8108C>G (p.Pro2703Arg)
c.7487C>G (p.Pro2496Arg)
c.8207C>G (p.Pro2736Arg)
c.8705C>G (p.Pro2902Arg)
c.6302C>G (p.Pro2101Arg)
2g.237336392G=CA1337607176COL6A3c.1353C=
c.8090C= (p.Pro2697=)
c.835C=
n.975C=
c.8708C= (p.Pro2903=)
c.6884C= (p.Pro2295=)
c.6887C= (p.Pro2296=)
n.5150C=
c.8108C= (p.Pro2703=)
c.7487C= (p.Pro2496=)
c.8207C= (p.Pro2736=)
c.8705C= (p.Pro2902=)
c.6302C= (p.Pro2101=)
2g.237336392G>TCA351191799COL6A3c.1353C>A
c.8090C>A (p.Pro2697Gln)
c.835C>A
n.975C>A
c.8708C>A (p.Pro2903Gln)
c.6884C>A (p.Pro2295Gln)
c.6887C>A (p.Pro2296Gln)
n.5150C>A
c.8108C>A (p.Pro2703Gln)
c.7487C>A (p.Pro2496Gln)
c.8207C>A (p.Pro2736Gln)
c.8705C>A (p.Pro2902Gln)
c.6302C>A (p.Pro2101Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.237336393G>ACA351191801COL6A3c.1352C>T
c.8089C>T (p.Pro2697Ser)
c.834C>T
n.974C>T
c.8707C>T (p.Pro2903Ser)
c.6883C>T (p.Pro2295Ser)
c.6886C>T (p.Pro2296Ser)
n.5149C>T
c.8107C>T (p.Pro2703Ser)
c.7486C>T (p.Pro2496Ser)
c.8206C>T (p.Pro2736Ser)
c.8704C>T (p.Pro2902Ser)
c.6301C>T (p.Pro2101Ser)
 gnomAD v4
2g.237336393G>CCA351191803COL6A3c.1352C>G
c.8089C>G (p.Pro2697Ala)
c.834C>G
n.974C>G
c.8707C>G (p.Pro2903Ala)
c.6883C>G (p.Pro2295Ala)
c.6886C>G (p.Pro2296Ala)
n.5149C>G
c.8107C>G (p.Pro2703Ala)
c.7486C>G (p.Pro2496Ala)
c.8206C>G (p.Pro2736Ala)
c.8704C>G (p.Pro2902Ala)
c.6301C>G (p.Pro2101Ala)
 dbSNP gnomAD v4
2g.237336393G=CA1337607177COL6A3c.1352C=
c.8089C= (p.Pro2697=)
c.834C=
n.974C=
c.8707C= (p.Pro2903=)
c.6883C= (p.Pro2295=)
c.6886C= (p.Pro2296=)
n.5149C=
c.8107C= (p.Pro2703=)
c.7486C= (p.Pro2496=)
c.8206C= (p.Pro2736=)
c.8704C= (p.Pro2902=)
c.6301C= (p.Pro2101=)
2g.237336393G>TCA351191802COL6A3c.1352C>A
c.8089C>A (p.Pro2697Thr)
c.834C>A
n.974C>A
c.8707C>A (p.Pro2903Thr)
c.6883C>A (p.Pro2295Thr)
c.6886C>A (p.Pro2296Thr)
n.5149C>A
c.8107C>A (p.Pro2703Thr)
c.7486C>A (p.Pro2496Thr)
c.8206C>A (p.Pro2736Thr)
c.8704C>A (p.Pro2902Thr)
c.6301C>A (p.Pro2101Thr)
 COSMIC
2g.237336394C>ACA351191804COL6A3c.1351G>T
c.8088G>T (p.Gln2696His)
c.833G>T
n.973G>T
c.8706G>T (p.Gln2902His)
c.6882G>T (p.Gln2294His)
c.6885G>T (p.Gln2295His)
n.5148G>T
c.8106G>T (p.Gln2702His)
c.7485G>T (p.Gln2495His)
c.8205G>T (p.Gln2735His)
c.8703G>T (p.Gln2901His)
c.6300G>T (p.Gln2100His)
2g.237336394C>GCA351191805COL6A3c.1351G>C
c.8088G>C (p.Gln2696His)
c.833G>C
n.973G>C
c.8706G>C (p.Gln2902His)
c.6882G>C (p.Gln2294His)
c.6885G>C (p.Gln2295His)
n.5148G>C
c.8106G>C (p.Gln2702His)
c.7485G>C (p.Gln2495His)
c.8205G>C (p.Gln2735His)
c.8703G>C (p.Gln2901His)
c.6300G>C (p.Gln2100His)
2g.237336394C>TCA431702308COL6A3c.1351G>A
c.8088G>A (p.Gln2696=)
c.833G>A
n.973G>A
c.8706G>A (p.Gln2902=)
c.6882G>A (p.Gln2294=)
c.6885G>A (p.Gln2295=)
n.5148G>A
c.8106G>A (p.Gln2702=)
c.7485G>A (p.Gln2495=)
c.8205G>A (p.Gln2735=)
c.8703G>A (p.Gln2901=)
c.6300G>A (p.Gln2100=)
2g.237336395T>ACA351191806COL6A3c.1350A>T
c.8087A>T (p.Gln2696Leu)
c.832A>T
n.972A>T
c.8705A>T (p.Gln2902Leu)
c.6881A>T (p.Gln2294Leu)
c.6884A>T (p.Gln2295Leu)
n.5147A>T
c.8105A>T (p.Gln2702Leu)
c.7484A>T (p.Gln2495Leu)
c.8204A>T (p.Gln2735Leu)
c.8702A>T (p.Gln2901Leu)
c.6299A>T (p.Gln2100Leu)
2g.237336395T>CCA351191807COL6A3c.1350A>G
c.8087A>G (p.Gln2696Arg)
c.832A>G
n.972A>G
c.8705A>G (p.Gln2902Arg)
c.6881A>G (p.Gln2294Arg)
c.6884A>G (p.Gln2295Arg)
n.5147A>G
c.8105A>G (p.Gln2702Arg)
c.7484A>G (p.Gln2495Arg)
c.8204A>G (p.Gln2735Arg)
c.8702A>G (p.Gln2901Arg)
c.6299A>G (p.Gln2100Arg)
2g.237336395T>GCA351191808COL6A3c.1350A>C
c.8087A>C (p.Gln2696Pro)
c.832A>C
n.972A>C
c.8705A>C (p.Gln2902Pro)
c.6881A>C (p.Gln2294Pro)
c.6884A>C (p.Gln2295Pro)
n.5147A>C
c.8105A>C (p.Gln2702Pro)
c.7484A>C (p.Gln2495Pro)
c.8204A>C (p.Gln2735Pro)
c.8702A>C (p.Gln2901Pro)
c.6299A>C (p.Gln2100Pro)
2g.237336396G>ACA351191809COL6A3c.1349C>T
c.8086C>T (p.Gln2696Ter)
c.831C>T
n.971C>T
c.8704C>T (p.Gln2902Ter)
c.6880C>T (p.Gln2294Ter)
c.6883C>T (p.Gln2295Ter)
n.5146C>T
c.8104C>T (p.Gln2702Ter)
c.7483C>T (p.Gln2495Ter)
c.8203C>T (p.Gln2735Ter)
c.8701C>T (p.Gln2901Ter)
c.6298C>T (p.Gln2100Ter)
2g.237336396G>CCA351191810COL6A3c.1349C>G
c.8086C>G (p.Gln2696Glu)
c.831C>G
n.971C>G
c.8704C>G (p.Gln2902Glu)
c.6880C>G (p.Gln2294Glu)
c.6883C>G (p.Gln2295Glu)
n.5146C>G
c.8104C>G (p.Gln2702Glu)
c.7483C>G (p.Gln2495Glu)
c.8203C>G (p.Gln2735Glu)
c.8701C>G (p.Gln2901Glu)
c.6298C>G (p.Gln2100Glu)
2g.237336396G>TCA351191811COL6A3c.1349C>A
c.8086C>A (p.Gln2696Lys)
c.831C>A
n.971C>A
c.8704C>A (p.Gln2902Lys)
c.6880C>A (p.Gln2294Lys)
c.6883C>A (p.Gln2295Lys)
n.5146C>A
c.8104C>A (p.Gln2702Lys)
c.7483C>A (p.Gln2495Lys)
c.8203C>A (p.Gln2735Lys)
c.8701C>A (p.Gln2901Lys)
c.6298C>A (p.Gln2100Lys)
2g.237336397A>CCA351191812COL6A3c.1348T>G
c.8085T>G (p.Asn2695Lys)
c.830T>G
n.970T>G
c.8703T>G (p.Asn2901Lys)
c.6879T>G (p.Asn2293Lys)
c.6882T>G (p.Asn2294Lys)
n.5145T>G
c.8103T>G (p.Asn2701Lys)
c.7482T>G (p.Asn2494Lys)
c.8202T>G (p.Asn2734Lys)
c.8700T>G (p.Asn2900Lys)
c.6297T>G (p.Asn2099Lys)
2g.237336397A>GCA431702325COL6A3c.1348T>C
c.8085T>C (p.Asn2695=)
c.830T>C
n.970T>C
c.8703T>C (p.Asn2901=)
c.6879T>C (p.Asn2293=)
c.6882T>C (p.Asn2294=)
n.5145T>C
c.8103T>C (p.Asn2701=)
c.7482T>C (p.Asn2494=)
c.8202T>C (p.Asn2734=)
c.8700T>C (p.Asn2900=)
c.6297T>C (p.Asn2099=)
2g.237336397A>TCA351191813COL6A3c.1348T>A
c.8085T>A (p.Asn2695Lys)
c.830T>A
n.970T>A
c.8703T>A (p.Asn2901Lys)
c.6879T>A (p.Asn2293Lys)
c.6882T>A (p.Asn2294Lys)
n.5145T>A
c.8103T>A (p.Asn2701Lys)
c.7482T>A (p.Asn2494Lys)
c.8202T>A (p.Asn2734Lys)
c.8700T>A (p.Asn2900Lys)
c.6297T>A (p.Asn2099Lys)
2g.237336398T>ACA351191814COL6A3c.1347A>T
c.8084A>T (p.Asn2695Ile)
c.829A>T
n.969A>T
c.8702A>T (p.Asn2901Ile)
c.6878A>T (p.Asn2293Ile)
c.6881A>T (p.Asn2294Ile)
n.5144A>T
c.8102A>T (p.Asn2701Ile)
c.7481A>T (p.Asn2494Ile)
c.8201A>T (p.Asn2734Ile)
c.8699A>T (p.Asn2900Ile)
c.6296A>T (p.Asn2099Ile)
2g.237336398T>CCA351191815COL6A3c.1347A>G
c.8084A>G (p.Asn2695Ser)
c.829A>G
n.969A>G
c.8702A>G (p.Asn2901Ser)
c.6878A>G (p.Asn2293Ser)
c.6881A>G (p.Asn2294Ser)
n.5144A>G
c.8102A>G (p.Asn2701Ser)
c.7481A>G (p.Asn2494Ser)
c.8201A>G (p.Asn2734Ser)
c.8699A>G (p.Asn2900Ser)
c.6296A>G (p.Asn2099Ser)
2g.237336398T>GCA351191816COL6A3c.1347A>C
c.8084A>C (p.Asn2695Thr)
c.829A>C
n.969A>C
c.8702A>C (p.Asn2901Thr)
c.6878A>C (p.Asn2293Thr)
c.6881A>C (p.Asn2294Thr)
n.5144A>C
c.8102A>C (p.Asn2701Thr)
c.7481A>C (p.Asn2494Thr)
c.8201A>C (p.Asn2734Thr)
c.8699A>C (p.Asn2900Thr)
c.6296A>C (p.Asn2099Thr)
2g.237336399T>ACA351191819COL6A3c.1346A>T
c.8083A>T (p.Asn2695Tyr)
c.828A>T
n.968A>T
c.8701A>T (p.Asn2901Tyr)
c.6877A>T (p.Asn2293Tyr)
c.6880A>T (p.Asn2294Tyr)
n.5143A>T
c.8101A>T (p.Asn2701Tyr)
c.7480A>T (p.Asn2494Tyr)
c.8200A>T (p.Asn2734Tyr)
c.8698A>T (p.Asn2900Tyr)
c.6295A>T (p.Asn2099Tyr)
2g.237336399T>CCA351191818COL6A3c.1346A>G
c.8083A>G (p.Asn2695Asp)
c.828A>G
n.968A>G
c.8701A>G (p.Asn2901Asp)
c.6877A>G (p.Asn2293Asp)
c.6880A>G (p.Asn2294Asp)
n.5143A>G
c.8101A>G (p.Asn2701Asp)
c.7480A>G (p.Asn2494Asp)
c.8200A>G (p.Asn2734Asp)
c.8698A>G (p.Asn2900Asp)
c.6295A>G (p.Asn2099Asp)
 gnomAD v4
2g.237336399T>GCA351191817COL6A3c.1346A>C
c.8083A>C (p.Asn2695His)
c.828A>C
n.968A>C
c.8701A>C (p.Asn2901His)
c.6877A>C (p.Asn2293His)
c.6880A>C (p.Asn2294His)
n.5143A>C
c.8101A>C (p.Asn2701His)
c.7480A>C (p.Asn2494His)
c.8200A>C (p.Asn2734His)
c.8698A>C (p.Asn2900His)
c.6295A>C (p.Asn2099His)
2g.237336400T>ACA431702342COL6A3c.1345A>T
c.8082A>T (p.Ile2694=)
c.827A>T
n.967A>T
c.8700A>T (p.Ile2900=)
c.6876A>T (p.Ile2292=)
c.6879A>T (p.Ile2293=)
n.5142A>T
c.8100A>T (p.Ile2700=)
c.7479A>T (p.Ile2493=)
c.8199A>T (p.Ile2733=)
c.8697A>T (p.Ile2899=)
c.6294A>T (p.Ile2098=)
2g.237336400T>CCA2187461COL6A3c.1345A>G
c.8082A>G (p.Ile2694Met)
c.827A>G
n.967A>G
c.8700A>G (p.Ile2900Met)
c.6876A>G (p.Ile2292Met)
c.6879A>G (p.Ile2293Met)
n.5142A>G
c.8100A>G (p.Ile2700Met)
c.7479A>G (p.Ile2493Met)
c.8199A>G (p.Ile2733Met)
c.8697A>G (p.Ile2899Met)
c.6294A>G (p.Ile2098Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336400T>GCA431702340COL6A3c.1345A>C
c.8082A>C (p.Ile2694=)
c.827A>C
n.967A>C
c.8700A>C (p.Ile2900=)
c.6876A>C (p.Ile2292=)
c.6879A>C (p.Ile2293=)
n.5142A>C
c.8100A>C (p.Ile2700=)
c.7479A>C (p.Ile2493=)
c.8199A>C (p.Ile2733=)
c.8697A>C (p.Ile2899=)
c.6294A>C (p.Ile2098=)
2g.237336400T=CA1337607178COL6A3c.1345A=
c.8082A= (p.Ile2694=)
c.827A=
n.967A=
c.8700A= (p.Ile2900=)
c.6876A= (p.Ile2292=)
c.6879A= (p.Ile2293=)
n.5142A=
c.8100A= (p.Ile2700=)
c.7479A= (p.Ile2493=)
c.8199A= (p.Ile2733=)
c.8697A= (p.Ile2899=)
c.6294A= (p.Ile2098=)
2g.237336401A>CCA351191820COL6A3c.1344T>G
c.8081T>G (p.Ile2694Arg)
c.826T>G
n.966T>G
c.8699T>G (p.Ile2900Arg)
c.6875T>G (p.Ile2292Arg)
c.6878T>G (p.Ile2293Arg)
n.5141T>G
c.8099T>G (p.Ile2700Arg)
c.7478T>G (p.Ile2493Arg)
c.8198T>G (p.Ile2733Arg)
c.8696T>G (p.Ile2899Arg)
c.6293T>G (p.Ile2098Arg)
2g.237336401A>GCA351191821COL6A3c.1344T>C
c.8081T>C (p.Ile2694Thr)
c.826T>C
n.966T>C
c.8699T>C (p.Ile2900Thr)
c.6875T>C (p.Ile2292Thr)
c.6878T>C (p.Ile2293Thr)
n.5141T>C
c.8099T>C (p.Ile2700Thr)
c.7478T>C (p.Ile2493Thr)
c.8198T>C (p.Ile2733Thr)
c.8696T>C (p.Ile2899Thr)
c.6293T>C (p.Ile2098Thr)
 gnomAD v4
2g.237336401A>TCA351191822COL6A3c.1344T>A
c.8081T>A (p.Ile2694Lys)
c.826T>A
n.966T>A
c.8699T>A (p.Ile2900Lys)
c.6875T>A (p.Ile2292Lys)
c.6878T>A (p.Ile2293Lys)
n.5141T>A
c.8099T>A (p.Ile2700Lys)
c.7478T>A (p.Ile2493Lys)
c.8198T>A (p.Ile2733Lys)
c.8696T>A (p.Ile2899Lys)
c.6293T>A (p.Ile2098Lys)
2g.237336402T>ACA351191823COL6A3c.1343A>T
c.8080A>T (p.Ile2694Leu)
c.825A>T
n.965A>T
c.8698A>T (p.Ile2900Leu)
c.6874A>T (p.Ile2292Leu)
c.6877A>T (p.Ile2293Leu)
n.5140A>T
c.8098A>T (p.Ile2700Leu)
c.7477A>T (p.Ile2493Leu)
c.8197A>T (p.Ile2733Leu)
c.8695A>T (p.Ile2899Leu)
c.6292A>T (p.Ile2098Leu)
2g.237336402T>CCA351191824COL6A3c.1343A>G
c.8080A>G (p.Ile2694Val)
c.825A>G
n.965A>G
c.8698A>G (p.Ile2900Val)
c.6874A>G (p.Ile2292Val)
c.6877A>G (p.Ile2293Val)
n.5140A>G
c.8098A>G (p.Ile2700Val)
c.7477A>G (p.Ile2493Val)
c.8197A>G (p.Ile2733Val)
c.8695A>G (p.Ile2899Val)
c.6292A>G (p.Ile2098Val)
 ClinVar dbSNP
2g.237336402T>GCA351191825COL6A3c.1343A>C
c.8080A>C (p.Ile2694Leu)
c.825A>C
n.965A>C
c.8698A>C (p.Ile2900Leu)
c.6874A>C (p.Ile2292Leu)
c.6877A>C (p.Ile2293Leu)
n.5140A>C
c.8098A>C (p.Ile2700Leu)
c.7477A>C (p.Ile2493Leu)
c.8197A>C (p.Ile2733Leu)
c.8695A>C (p.Ile2899Leu)
c.6292A>C (p.Ile2098Leu)
 ClinVar dbSNP gnomAD v4
2g.237336402T=CA1337607179COL6A3c.1343A=
c.8080A= (p.Ile2694=)
c.825A=
n.965A=
c.8698A= (p.Ile2900=)
c.6874A= (p.Ile2292=)
c.6877A= (p.Ile2293=)
n.5140A=
c.8098A= (p.Ile2700=)
c.7477A= (p.Ile2493=)
c.8197A= (p.Ile2733=)
c.8695A= (p.Ile2899=)
c.6292A= (p.Ile2098=)
2g.237336403A=CA1337607180COL6A3c.1342T=
c.8079T= (p.Ile2693=)
c.824T=
n.964T=
c.8697T= (p.Ile2899=)
c.6873T= (p.Ile2291=)
c.6876T= (p.Ile2292=)
n.5139T=
c.8097T= (p.Ile2699=)
c.7476T= (p.Ile2492=)
c.8196T= (p.Ile2732=)
c.8694T= (p.Ile2898=)
c.6291T= (p.Ile2097=)
2g.237336403A>CCA351191826COL6A3c.1342T>G
c.8079T>G (p.Ile2693Met)
c.824T>G
n.964T>G
c.8697T>G (p.Ile2899Met)
c.6873T>G (p.Ile2291Met)
c.6876T>G (p.Ile2292Met)
n.5139T>G
c.8097T>G (p.Ile2699Met)
c.7476T>G (p.Ile2492Met)
c.8196T>G (p.Ile2732Met)
c.8694T>G (p.Ile2898Met)
c.6291T>G (p.Ile2097Met)
 dbSNP gnomAD v2 gnomAD v4
2g.237336403A>GCA431702357COL6A3c.1342T>C
c.8079T>C (p.Ile2693=)
c.824T>C
n.964T>C
c.8697T>C (p.Ile2899=)
c.6873T>C (p.Ile2291=)
c.6876T>C (p.Ile2292=)
n.5139T>C
c.8097T>C (p.Ile2699=)
c.7476T>C (p.Ile2492=)
c.8196T>C (p.Ile2732=)
c.8694T>C (p.Ile2898=)
c.6291T>C (p.Ile2097=)
2g.237336403A>TCA431702360COL6A3c.1342T>A
c.8079T>A (p.Ile2693=)
c.824T>A
n.964T>A
c.8697T>A (p.Ile2899=)
c.6873T>A (p.Ile2291=)
c.6876T>A (p.Ile2292=)
n.5139T>A
c.8097T>A (p.Ile2699=)
c.7476T>A (p.Ile2492=)
c.8196T>A (p.Ile2732=)
c.8694T>A (p.Ile2898=)
c.6291T>A (p.Ile2097=)
 gnomAD v4
2g.237336404A>CCA351191827COL6A3c.1341T>G
c.8078T>G (p.Ile2693Ser)
c.823T>G
n.963T>G
c.8696T>G (p.Ile2899Ser)
c.6872T>G (p.Ile2291Ser)
c.6875T>G (p.Ile2292Ser)
n.5138T>G
c.8096T>G (p.Ile2699Ser)
c.7475T>G (p.Ile2492Ser)
c.8195T>G (p.Ile2732Ser)
c.8693T>G (p.Ile2898Ser)
c.6290T>G (p.Ile2097Ser)
2g.237336404A>GCA351191828COL6A3c.1341T>C
c.8078T>C (p.Ile2693Thr)
c.823T>C
n.963T>C
c.8696T>C (p.Ile2899Thr)
c.6872T>C (p.Ile2291Thr)
c.6875T>C (p.Ile2292Thr)
n.5138T>C
c.8096T>C (p.Ile2699Thr)
c.7475T>C (p.Ile2492Thr)
c.8195T>C (p.Ile2732Thr)
c.8693T>C (p.Ile2898Thr)
c.6290T>C (p.Ile2097Thr)
2g.237336404A>TCA351191829COL6A3c.1341T>A
c.8078T>A (p.Ile2693Asn)
c.823T>A
n.963T>A
c.8696T>A (p.Ile2899Asn)
c.6872T>A (p.Ile2291Asn)
c.6875T>A (p.Ile2292Asn)
n.5138T>A
c.8096T>A (p.Ile2699Asn)
c.7475T>A (p.Ile2492Asn)
c.8195T>A (p.Ile2732Asn)
c.8693T>A (p.Ile2898Asn)
c.6290T>A (p.Ile2097Asn)
2g.237336405T>ACA351191831COL6A3c.1340A>T
c.8077A>T (p.Ile2693Phe)
c.822A>T
n.962A>T
c.8695A>T (p.Ile2899Phe)
c.6871A>T (p.Ile2291Phe)
c.6874A>T (p.Ile2292Phe)
n.5137A>T
c.8095A>T (p.Ile2699Phe)
c.7474A>T (p.Ile2492Phe)
c.8194A>T (p.Ile2732Phe)
c.8692A>T (p.Ile2898Phe)
c.6289A>T (p.Ile2097Phe)
2g.237336405T>CCA2187462COL6A3c.1340A>G
c.8077A>G (p.Ile2693Val)
c.822A>G
n.962A>G
c.8695A>G (p.Ile2899Val)
c.6871A>G (p.Ile2291Val)
c.6874A>G (p.Ile2292Val)
n.5137A>G
c.8095A>G (p.Ile2699Val)
c.7474A>G (p.Ile2492Val)
c.8194A>G (p.Ile2732Val)
c.8692A>G (p.Ile2898Val)
c.6289A>G (p.Ile2097Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336405T>GCA351191830COL6A3c.1340A>C
c.8077A>C (p.Ile2693Leu)
c.822A>C
n.962A>C
c.8695A>C (p.Ile2899Leu)
c.6871A>C (p.Ile2291Leu)
c.6874A>C (p.Ile2292Leu)
n.5137A>C
c.8095A>C (p.Ile2699Leu)
c.7474A>C (p.Ile2492Leu)
c.8194A>C (p.Ile2732Leu)
c.8692A>C (p.Ile2898Leu)
c.6289A>C (p.Ile2097Leu)
2g.237336405T=CA1337607181COL6A3c.1340A=
c.8077A= (p.Ile2693=)
c.822A=
n.962A=
c.8695A= (p.Ile2899=)
c.6871A= (p.Ile2291=)
c.6874A= (p.Ile2292=)
n.5137A=
c.8095A= (p.Ile2699=)
c.7474A= (p.Ile2492=)
c.8194A= (p.Ile2732=)
c.8692A= (p.Ile2898=)
c.6289A= (p.Ile2097=)
2g.237336406A=CA1337607182COL6A3c.1339T=
c.8076T= (p.Thr2692=)
c.821T=
n.961T=
c.8694T= (p.Thr2898=)
c.6870T= (p.Thr2290=)
c.6873T= (p.Thr2291=)
n.5136T=
c.8094T= (p.Thr2698=)
c.7473T= (p.Thr2491=)
c.8193T= (p.Thr2731=)
c.8691T= (p.Thr2897=)
c.6288T= (p.Thr2096=)
2g.237336406A>CCA431702373COL6A3c.1339T>G
c.8076T>G (p.Thr2692=)
c.821T>G
n.961T>G
c.8694T>G (p.Thr2898=)
c.6870T>G (p.Thr2290=)
c.6873T>G (p.Thr2291=)
n.5136T>G
c.8094T>G (p.Thr2698=)
c.7473T>G (p.Thr2491=)
c.8193T>G (p.Thr2731=)
c.8691T>G (p.Thr2897=)
c.6288T>G (p.Thr2096=)
2g.237336406A>GCA2187463COL6A3c.1339T>C
c.8076T>C (p.Thr2692=)
c.821T>C
n.961T>C
c.8694T>C (p.Thr2898=)
c.6870T>C (p.Thr2290=)
c.6873T>C (p.Thr2291=)
n.5136T>C
c.8094T>C (p.Thr2698=)
c.7473T>C (p.Thr2491=)
c.8193T>C (p.Thr2731=)
c.8691T>C (p.Thr2897=)
c.6288T>C (p.Thr2096=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237336406A>TCA431702375COL6A3c.1339T>A
c.8076T>A (p.Thr2692=)
c.821T>A
n.961T>A
c.8694T>A (p.Thr2898=)
c.6870T>A (p.Thr2290=)
c.6873T>A (p.Thr2291=)
n.5136T>A
c.8094T>A (p.Thr2698=)
c.7473T>A (p.Thr2491=)
c.8193T>A (p.Thr2731=)
c.8691T>A (p.Thr2897=)
c.6288T>A (p.Thr2096=)
2g.237336407G>ACA351191832COL6A3c.1338C>T
c.8075C>T (p.Thr2692Ile)
c.820C>T
n.960C>T
c.8693C>T (p.Thr2898Ile)
c.6869C>T (p.Thr2290Ile)
c.6872C>T (p.Thr2291Ile)
n.5135C>T
c.8093C>T (p.Thr2698Ile)
c.7472C>T (p.Thr2491Ile)
c.8192C>T (p.Thr2731Ile)
c.8690C>T (p.Thr2897Ile)
c.6287C>T (p.Thr2096Ile)
2g.237336407G>CCA351191833COL6A3c.1338C>G
c.8075C>G (p.Thr2692Ser)
c.820C>G
n.960C>G
c.8693C>G (p.Thr2898Ser)
c.6869C>G (p.Thr2290Ser)
c.6872C>G (p.Thr2291Ser)
n.5135C>G
c.8093C>G (p.Thr2698Ser)
c.7472C>G (p.Thr2491Ser)
c.8192C>G (p.Thr2731Ser)
c.8690C>G (p.Thr2897Ser)
c.6287C>G (p.Thr2096Ser)
2g.237336407G>TCA351191834COL6A3c.1338C>A
c.8075C>A (p.Thr2692Asn)
c.820C>A
n.960C>A
c.8693C>A (p.Thr2898Asn)
c.6869C>A (p.Thr2290Asn)
c.6872C>A (p.Thr2291Asn)
n.5135C>A
c.8093C>A (p.Thr2698Asn)
c.7472C>A (p.Thr2491Asn)
c.8192C>A (p.Thr2731Asn)
c.8690C>A (p.Thr2897Asn)
c.6287C>A (p.Thr2096Asn)
2g.237336408T>ACA351191835COL6A3c.1337A>T
c.8074A>T (p.Thr2692Ser)
c.819A>T
n.959A>T
c.8692A>T (p.Thr2898Ser)
c.6868A>T (p.Thr2290Ser)
c.6871A>T (p.Thr2291Ser)
n.5134A>T
c.8092A>T (p.Thr2698Ser)
c.7471A>T (p.Thr2491Ser)
c.8191A>T (p.Thr2731Ser)
c.8689A>T (p.Thr2897Ser)
c.6286A>T (p.Thr2096Ser)
2g.237336408T>CCA351191836COL6A3c.1337A>G
c.8074A>G (p.Thr2692Ala)
c.819A>G
n.959A>G
c.8692A>G (p.Thr2898Ala)
c.6868A>G (p.Thr2290Ala)
c.6871A>G (p.Thr2291Ala)
n.5134A>G
c.8092A>G (p.Thr2698Ala)
c.7471A>G (p.Thr2491Ala)
c.8191A>G (p.Thr2731Ala)
c.8689A>G (p.Thr2897Ala)
c.6286A>G (p.Thr2096Ala)
2g.237336408T>GCA351191837COL6A3c.1337A>C
c.8074A>C (p.Thr2692Pro)
c.819A>C
n.959A>C
c.8692A>C (p.Thr2898Pro)
c.6868A>C (p.Thr2290Pro)
c.6871A>C (p.Thr2291Pro)
n.5134A>C
c.8092A>C (p.Thr2698Pro)
c.7471A>C (p.Thr2491Pro)
c.8191A>C (p.Thr2731Pro)
c.8689A>C (p.Thr2897Pro)
c.6286A>C (p.Thr2096Pro)
2g.237336409C>ACA431702388COL6A3c.1336G>T
c.8073G>T (p.Val2691=)
c.818G>T
n.958G>T
c.8691G>T (p.Val2897=)
c.6867G>T (p.Val2289=)
c.6870G>T (p.Val2290=)
n.5133G>T
c.8091G>T (p.Val2697=)
c.7470G>T (p.Val2490=)
c.8190G>T (p.Val2730=)
c.8688G>T (p.Val2896=)
c.6285G>T (p.Val2095=)
2g.237336409C=CA1337607184COL6A3c.1336G=
c.8073G= (p.Val2691=)
c.818G=
n.958G=
c.8691G= (p.Val2897=)
c.6867G= (p.Val2289=)
c.6870G= (p.Val2290=)
n.5133G=
c.8091G= (p.Val2697=)
c.7470G= (p.Val2490=)
c.8190G= (p.Val2730=)
c.8688G= (p.Val2896=)
c.6285G= (p.Val2095=)
2g.237336409C>GCA431702392COL6A3c.1336G>C
c.8073G>C (p.Val2691=)
c.818G>C
n.958G>C
c.8691G>C (p.Val2897=)
c.6867G>C (p.Val2289=)
c.6870G>C (p.Val2290=)
n.5133G>C
c.8091G>C (p.Val2697=)
c.7470G>C (p.Val2490=)
c.8190G>C (p.Val2730=)
c.8688G>C (p.Val2896=)
c.6285G>C (p.Val2095=)
2g.237336409C>TCA431702390COL6A3c.1336G>A
c.8073G>A (p.Val2691=)
c.818G>A
n.958G>A
c.8691G>A (p.Val2897=)
c.6867G>A (p.Val2289=)
c.6870G>A (p.Val2290=)
n.5133G>A
c.8091G>A (p.Val2697=)
c.7470G>A (p.Val2490=)
c.8190G>A (p.Val2730=)
c.8688G>A (p.Val2896=)
c.6285G>A (p.Val2095=)
 dbSNP gnomAD v2
2g.237336409_237336430delinsCACAGGCTTTGTTGTGGTGGTTCA1337607183COL6A3c.1315_1336delinsAACCACCACAACAAAGCCTGTG
c.8052_8073delinsAACCACCACAACAAAGCCTGTG (p.Val2684=)
c.797_818delinsAACCACCACAACAAAGCCTGTG
n.937_958delinsAACCACCACAACAAAGCCTGTG
c.8670_8691delinsAACCACCACAACAAAGCCTGTG (p.Val2890=)
c.6846_6867delinsAACCACCACAACAAAGCCTGTG (p.Val2282=)
c.6849_6870delinsAACCACCACAACAAAGCCTGTG (p.Val2283=)
n.5112_5133delinsAACCACCACAACAAAGCCTGTG
c.8070_8091delinsAACCACCACAACAAAGCCTGTG (p.Val2690=)
c.7449_7470delinsAACCACCACAACAAAGCCTGTG (p.Val2483=)
c.8169_8190delinsAACCACCACAACAAAGCCTGTG (p.Val2723=)
c.8667_8688delinsAACCACCACAACAAAGCCTGTG (p.Val2889=)
c.6264_6285delinsAACCACCACAACAAAGCCTGTG (p.Val2088=)
2g.237336410A=CA1337607185COL6A3c.1335T=
c.8072T= (p.Val2691=)
c.817T=
n.957T=
c.8690T= (p.Val2897=)
c.6866T= (p.Val2289=)
c.6869T= (p.Val2290=)
n.5132T=
c.8090T= (p.Val2697=)
c.7469T= (p.Val2490=)
c.8189T= (p.Val2730=)
c.8687T= (p.Val2896=)
c.6284T= (p.Val2095=)
2g.237336410A>CCA351191838COL6A3c.1335T>G
c.8072T>G (p.Val2691Gly)
c.817T>G
n.957T>G
c.8690T>G (p.Val2897Gly)
c.6866T>G (p.Val2289Gly)
c.6869T>G (p.Val2290Gly)
n.5132T>G
c.8090T>G (p.Val2697Gly)
c.7469T>G (p.Val2490Gly)
c.8189T>G (p.Val2730Gly)
c.8687T>G (p.Val2896Gly)
c.6284T>G (p.Val2095Gly)
 gnomAD v4
2g.237336410A>GCA351191839COL6A3c.1335T>C
c.8072T>C (p.Val2691Ala)
c.817T>C
n.957T>C
c.8690T>C (p.Val2897Ala)
c.6866T>C (p.Val2289Ala)
c.6869T>C (p.Val2290Ala)
n.5132T>C
c.8090T>C (p.Val2697Ala)
c.7469T>C (p.Val2490Ala)
c.8189T>C (p.Val2730Ala)
c.8687T>C (p.Val2896Ala)
c.6284T>C (p.Val2095Ala)
 gnomAD v4
2g.237336410A>TCA351191840COL6A3c.1335T>A
c.8072T>A (p.Val2691Glu)
c.817T>A
n.957T>A
c.8690T>A (p.Val2897Glu)
c.6866T>A (p.Val2289Glu)
c.6869T>A (p.Val2290Glu)
n.5132T>A
c.8090T>A (p.Val2697Glu)
c.7469T>A (p.Val2490Glu)
c.8189T>A (p.Val2730Glu)
c.8687T>A (p.Val2896Glu)
c.6284T>A (p.Val2095Glu)
 dbSNP
2g.237336430_237336450dupCA1043806476COL6A3c.1315_1335dup
c.8052_8072dup (p.Val2691_Thr2692insThrThrThrThrLysProVal)
c.797_817dup
n.937_957dup
c.8670_8690dup (p.Val2897_Thr2898insThrThrThrThrLysProVal)
c.6846_6866dup (p.Val2289_Thr2290insThrThrThrThrLysProVal)
c.6849_6869dup (p.Val2290_Thr2291insThrThrThrThrLysProVal)
n.5112_5132dup
c.8070_8090dup (p.Val2697_Thr2698insThrThrThrThrLysProVal)
c.7449_7469dup (p.Val2490_Thr2491insThrThrThrThrLysProVal)
c.8169_8189dup (p.Val2730_Thr2731insThrThrThrThrLysProVal)
c.8667_8687dup (p.Val2896_Thr2897insThrThrThrThrLysProVal)
c.6264_6284dup (p.Val2095_Thr2096insThrThrThrThrLysProVal)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237336430_237336450delCA2187464COL6A3c.1315_1335del
c.8052_8072del (p.Thr2685_Val2691del)
c.797_817del
n.937_957del
c.8670_8690del (p.Thr2891_Val2897del)
c.6846_6866del (p.Thr2283_Val2289del)
c.6849_6869del (p.Thr2284_Val2290del)
n.5112_5132del
c.8070_8090del (p.Thr2691_Val2697del)
c.7449_7469del (p.Thr2484_Val2490del)
c.8169_8189del (p.Thr2724_Val2730del)
c.8667_8687del (p.Thr2890_Val2896del)
c.6264_6284del (p.Thr2089_Val2095del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336411C>ACA351191843COL6A3c.1334G>T
c.8071G>T (p.Val2691Leu)
c.816G>T
n.956G>T
c.8689G>T (p.Val2897Leu)
c.6865G>T (p.Val2289Leu)
c.6868G>T (p.Val2290Leu)
n.5131G>T
c.8089G>T (p.Val2697Leu)
c.7468G>T (p.Val2490Leu)
c.8188G>T (p.Val2730Leu)
c.8686G>T (p.Val2896Leu)
c.6283G>T (p.Val2095Leu)
2g.237336411C>GCA351191842COL6A3c.1334G>C
c.8071G>C (p.Val2691Leu)
c.816G>C
n.956G>C
c.8689G>C (p.Val2897Leu)
c.6865G>C (p.Val2289Leu)
c.6868G>C (p.Val2290Leu)
n.5131G>C
c.8089G>C (p.Val2697Leu)
c.7468G>C (p.Val2490Leu)
c.8188G>C (p.Val2730Leu)
c.8686G>C (p.Val2896Leu)
c.6283G>C (p.Val2095Leu)
 gnomAD v4
2g.237336411C>TCA351191841COL6A3c.1334G>A
c.8071G>A (p.Val2691Met)
c.816G>A
n.956G>A
c.8689G>A (p.Val2897Met)
c.6865G>A (p.Val2289Met)
c.6868G>A (p.Val2290Met)
n.5131G>A
c.8089G>A (p.Val2697Met)
c.7468G>A (p.Val2490Met)
c.8188G>A (p.Val2730Met)
c.8686G>A (p.Val2896Met)
c.6283G>A (p.Val2095Met)
2g.237336412A=CA1337607186COL6A3c.1333T=
c.8070T= (p.Pro2690=)
c.815T=
n.955T=
c.8688T= (p.Pro2896=)
c.6864T= (p.Pro2288=)
c.6867T= (p.Pro2289=)
n.5130T=
c.8088T= (p.Pro2696=)
c.7467T= (p.Pro2489=)
c.8187T= (p.Pro2729=)
c.8685T= (p.Pro2895=)
c.6282T= (p.Pro2094=)
2g.237336412A>CCA431702405COL6A3c.1333T>G
c.8070T>G (p.Pro2690=)
c.815T>G
n.955T>G
c.8688T>G (p.Pro2896=)
c.6864T>G (p.Pro2288=)
c.6867T>G (p.Pro2289=)
n.5130T>G
c.8088T>G (p.Pro2696=)
c.7467T>G (p.Pro2489=)
c.8187T>G (p.Pro2729=)
c.8685T>G (p.Pro2895=)
c.6282T>G (p.Pro2094=)
2g.237336412A>GCA2187465COL6A3c.1333T>C
c.8070T>C (p.Pro2690=)
c.815T>C
n.955T>C
c.8688T>C (p.Pro2896=)
c.6864T>C (p.Pro2288=)
c.6867T>C (p.Pro2289=)
n.5130T>C
c.8088T>C (p.Pro2696=)
c.7467T>C (p.Pro2489=)
c.8187T>C (p.Pro2729=)
c.8685T>C (p.Pro2895=)
c.6282T>C (p.Pro2094=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336412A>TCA431702408COL6A3c.1333T>A
c.8070T>A (p.Pro2690=)
c.815T>A
n.955T>A
c.8688T>A (p.Pro2896=)
c.6864T>A (p.Pro2288=)
c.6867T>A (p.Pro2289=)
n.5130T>A
c.8088T>A (p.Pro2696=)
c.7467T>A (p.Pro2489=)
c.8187T>A (p.Pro2729=)
c.8685T>A (p.Pro2895=)
c.6282T>A (p.Pro2094=)
2g.237336413G>ACA351191844COL6A3c.1332C>T
c.8069C>T (p.Pro2690Leu)
c.814C>T
n.954C>T
c.8687C>T (p.Pro2896Leu)
c.6863C>T (p.Pro2288Leu)
c.6866C>T (p.Pro2289Leu)
n.5129C>T
c.8087C>T (p.Pro2696Leu)
c.7466C>T (p.Pro2489Leu)
c.8186C>T (p.Pro2729Leu)
c.8684C>T (p.Pro2895Leu)
c.6281C>T (p.Pro2094Leu)
2g.237336413G>CCA351191845COL6A3c.1332C>G
c.8069C>G (p.Pro2690Arg)
c.814C>G
n.954C>G
c.8687C>G (p.Pro2896Arg)
c.6863C>G (p.Pro2288Arg)
c.6866C>G (p.Pro2289Arg)
n.5129C>G
c.8087C>G (p.Pro2696Arg)
c.7466C>G (p.Pro2489Arg)
c.8186C>G (p.Pro2729Arg)
c.8684C>G (p.Pro2895Arg)
c.6281C>G (p.Pro2094Arg)
2g.237336413G>TCA351191846COL6A3c.1332C>A
c.8069C>A (p.Pro2690His)
c.814C>A
n.954C>A
c.8687C>A (p.Pro2896His)
c.6863C>A (p.Pro2288His)
c.6866C>A (p.Pro2289His)
n.5129C>A
c.8087C>A (p.Pro2696His)
c.7466C>A (p.Pro2489His)
c.8186C>A (p.Pro2729His)
c.8684C>A (p.Pro2895His)
c.6281C>A (p.Pro2094His)
2g.237336414G>ACA351191847COL6A3c.1331C>T
c.8068C>T (p.Pro2690Ser)
c.813C>T
n.953C>T
c.8686C>T (p.Pro2896Ser)
c.6862C>T (p.Pro2288Ser)
c.6865C>T (p.Pro2289Ser)
n.5128C>T
c.8086C>T (p.Pro2696Ser)
c.7465C>T (p.Pro2489Ser)
c.8185C>T (p.Pro2729Ser)
c.8683C>T (p.Pro2895Ser)
c.6280C>T (p.Pro2094Ser)
2g.237336414G>CCA351191848COL6A3c.1331C>G
c.8068C>G (p.Pro2690Ala)
c.813C>G
n.953C>G
c.8686C>G (p.Pro2896Ala)
c.6862C>G (p.Pro2288Ala)
c.6865C>G (p.Pro2289Ala)
n.5128C>G
c.8086C>G (p.Pro2696Ala)
c.7465C>G (p.Pro2489Ala)
c.8185C>G (p.Pro2729Ala)
c.8683C>G (p.Pro2895Ala)
c.6280C>G (p.Pro2094Ala)
2g.237336414G>TCA351191849COL6A3c.1331C>A
c.8068C>A (p.Pro2690Thr)
c.813C>A
n.953C>A
c.8686C>A (p.Pro2896Thr)
c.6862C>A (p.Pro2288Thr)
c.6865C>A (p.Pro2289Thr)
n.5128C>A
c.8086C>A (p.Pro2696Thr)
c.7465C>A (p.Pro2489Thr)
c.8185C>A (p.Pro2729Thr)
c.8683C>A (p.Pro2895Thr)
c.6280C>A (p.Pro2094Thr)
2g.237336415C>ACA351191850COL6A3c.1330G>T
c.8067G>T (p.Lys2689Asn)
c.812G>T
n.952G>T
c.8685G>T (p.Lys2895Asn)
c.6861G>T (p.Lys2287Asn)
c.6864G>T (p.Lys2288Asn)
n.5127G>T
c.8085G>T (p.Lys2695Asn)
c.7464G>T (p.Lys2488Asn)
c.8184G>T (p.Lys2728Asn)
c.8682G>T (p.Lys2894Asn)
c.6279G>T (p.Lys2093Asn)
 gnomAD v4
2g.237336415C>GCA351191851COL6A3c.1330G>C
c.8067G>C (p.Lys2689Asn)
c.812G>C
n.952G>C
c.8685G>C (p.Lys2895Asn)
c.6861G>C (p.Lys2287Asn)
c.6864G>C (p.Lys2288Asn)
n.5127G>C
c.8085G>C (p.Lys2695Asn)
c.7464G>C (p.Lys2488Asn)
c.8184G>C (p.Lys2728Asn)
c.8682G>C (p.Lys2894Asn)
c.6279G>C (p.Lys2093Asn)
2g.237336415C>TCA431702423COL6A3c.1330G>A
c.8067G>A (p.Lys2689=)
c.812G>A
n.952G>A
c.8685G>A (p.Lys2895=)
c.6861G>A (p.Lys2287=)
c.6864G>A (p.Lys2288=)
n.5127G>A
c.8085G>A (p.Lys2695=)
c.7464G>A (p.Lys2488=)
c.8184G>A (p.Lys2728=)
c.8682G>A (p.Lys2894=)
c.6279G>A (p.Lys2093=)
2g.237336416T>ACA351191852COL6A3c.1329A>T
c.8066A>T (p.Lys2689Met)
c.811A>T
n.951A>T
c.8684A>T (p.Lys2895Met)
c.6860A>T (p.Lys2287Met)
c.6863A>T (p.Lys2288Met)
n.5126A>T
c.8084A>T (p.Lys2695Met)
c.7463A>T (p.Lys2488Met)
c.8183A>T (p.Lys2728Met)
c.8681A>T (p.Lys2894Met)
c.6278A>T (p.Lys2093Met)
2g.237336416T>CCA351191853COL6A3c.1329A>G
c.8066A>G (p.Lys2689Arg)
c.811A>G
n.951A>G
c.8684A>G (p.Lys2895Arg)
c.6860A>G (p.Lys2287Arg)
c.6863A>G (p.Lys2288Arg)
n.5126A>G
c.8084A>G (p.Lys2695Arg)
c.7463A>G (p.Lys2488Arg)
c.8183A>G (p.Lys2728Arg)
c.8681A>G (p.Lys2894Arg)
c.6278A>G (p.Lys2093Arg)
2g.237336416T>GCA351191854COL6A3c.1329A>C
c.8066A>C (p.Lys2689Thr)
c.811A>C
n.951A>C
c.8684A>C (p.Lys2895Thr)
c.6860A>C (p.Lys2287Thr)
c.6863A>C (p.Lys2288Thr)
n.5126A>C
c.8084A>C (p.Lys2695Thr)
c.7463A>C (p.Lys2488Thr)
c.8183A>C (p.Lys2728Thr)
c.8681A>C (p.Lys2894Thr)
c.6278A>C (p.Lys2093Thr)
2g.237336417T>ACA351191856COL6A3c.1328A>T
c.8065A>T (p.Lys2689Ter)
c.810A>T
n.950A>T
c.8683A>T (p.Lys2895Ter)
c.6859A>T (p.Lys2287Ter)
c.6862A>T (p.Lys2288Ter)
n.5125A>T
c.8083A>T (p.Lys2695Ter)
c.7462A>T (p.Lys2488Ter)
c.8182A>T (p.Lys2728Ter)
c.8680A>T (p.Lys2894Ter)
c.6277A>T (p.Lys2093Ter)
2g.237336417T>CCA351191857COL6A3c.1328A>G
c.8065A>G (p.Lys2689Glu)
c.810A>G
n.950A>G
c.8683A>G (p.Lys2895Glu)
c.6859A>G (p.Lys2287Glu)
c.6862A>G (p.Lys2288Glu)
n.5125A>G
c.8083A>G (p.Lys2695Glu)
c.7462A>G (p.Lys2488Glu)
c.8182A>G (p.Lys2728Glu)
c.8680A>G (p.Lys2894Glu)
c.6277A>G (p.Lys2093Glu)
2g.237336417T>GCA351191855COL6A3c.1328A>C
c.8065A>C (p.Lys2689Gln)
c.810A>C
n.950A>C
c.8683A>C (p.Lys2895Gln)
c.6859A>C (p.Lys2287Gln)
c.6862A>C (p.Lys2288Gln)
n.5125A>C
c.8083A>C (p.Lys2695Gln)
c.7462A>C (p.Lys2488Gln)
c.8182A>C (p.Lys2728Gln)
c.8680A>C (p.Lys2894Gln)
c.6277A>C (p.Lys2093Gln)
2g.237336418T>ACA431702436COL6A3c.1327A>T
c.8064A>T (p.Thr2688=)
c.809A>T
n.949A>T
c.8682A>T (p.Thr2894=)
c.6858A>T (p.Thr2286=)
c.6861A>T (p.Thr2287=)
n.5124A>T
c.8082A>T (p.Thr2694=)
c.7461A>T (p.Thr2487=)
c.8181A>T (p.Thr2727=)
c.8679A>T (p.Thr2893=)
c.6276A>T (p.Thr2092=)
2g.237336418T>CCA431702438COL6A3c.1327A>G
c.8064A>G (p.Thr2688=)
c.809A>G
n.949A>G
c.8682A>G (p.Thr2894=)
c.6858A>G (p.Thr2286=)
c.6861A>G (p.Thr2287=)
n.5124A>G
c.8082A>G (p.Thr2694=)
c.7461A>G (p.Thr2487=)
c.8181A>G (p.Thr2727=)
c.8679A>G (p.Thr2893=)
c.6276A>G (p.Thr2092=)
2g.237336418T>GCA431702441COL6A3c.1327A>C
c.8064A>C (p.Thr2688=)
c.809A>C
n.949A>C
c.8682A>C (p.Thr2894=)
c.6858A>C (p.Thr2286=)
c.6861A>C (p.Thr2287=)
n.5124A>C
c.8082A>C (p.Thr2694=)
c.7461A>C (p.Thr2487=)
c.8181A>C (p.Thr2727=)
c.8679A>C (p.Thr2893=)
c.6276A>C (p.Thr2092=)
2g.237336419G>ACA2187466COL6A3c.1326C>T
c.8063C>T (p.Thr2688Ile)
c.808C>T
n.948C>T
c.8681C>T (p.Thr2894Ile)
c.6857C>T (p.Thr2286Ile)
c.6860C>T (p.Thr2287Ile)
n.5123C>T
c.8081C>T (p.Thr2694Ile)
c.7460C>T (p.Thr2487Ile)
c.8180C>T (p.Thr2727Ile)
c.8678C>T (p.Thr2893Ile)
c.6275C>T (p.Thr2092Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336419G>CCA351191858COL6A3c.1326C>G
c.8063C>G (p.Thr2688Arg)
c.808C>G
n.948C>G
c.8681C>G (p.Thr2894Arg)
c.6857C>G (p.Thr2286Arg)
c.6860C>G (p.Thr2287Arg)
n.5123C>G
c.8081C>G (p.Thr2694Arg)
c.7460C>G (p.Thr2487Arg)
c.8180C>G (p.Thr2727Arg)
c.8678C>G (p.Thr2893Arg)
c.6275C>G (p.Thr2092Arg)
2g.237336419G=CA1337607187COL6A3c.1326C=
c.8063C= (p.Thr2688=)
c.808C=
n.948C=
c.8681C= (p.Thr2894=)
c.6857C= (p.Thr2286=)
c.6860C= (p.Thr2287=)
n.5123C=
c.8081C= (p.Thr2694=)
c.7460C= (p.Thr2487=)
c.8180C= (p.Thr2727=)
c.8678C= (p.Thr2893=)
c.6275C= (p.Thr2092=)
2g.237336419G>TCA351191859COL6A3c.1326C>A
c.8063C>A (p.Thr2688Lys)
c.808C>A
n.948C>A
c.8681C>A (p.Thr2894Lys)
c.6857C>A (p.Thr2286Lys)
c.6860C>A (p.Thr2287Lys)
n.5123C>A
c.8081C>A (p.Thr2694Lys)
c.7460C>A (p.Thr2487Lys)
c.8180C>A (p.Thr2727Lys)
c.8678C>A (p.Thr2893Lys)
c.6275C>A (p.Thr2092Lys)
2g.237336420T>ACA351191860COL6A3c.1325A>T
c.8062A>T (p.Thr2688Ser)
c.807A>T
n.947A>T
c.8680A>T (p.Thr2894Ser)
c.6856A>T (p.Thr2286Ser)
c.6859A>T (p.Thr2287Ser)
n.5122A>T
c.8080A>T (p.Thr2694Ser)
c.7459A>T (p.Thr2487Ser)
c.8179A>T (p.Thr2727Ser)
c.8677A>T (p.Thr2893Ser)
c.6274A>T (p.Thr2092Ser)
2g.237336420T>CCA351191861COL6A3c.1325A>G
c.8062A>G (p.Thr2688Ala)
c.807A>G
n.947A>G
c.8680A>G (p.Thr2894Ala)
c.6856A>G (p.Thr2286Ala)
c.6859A>G (p.Thr2287Ala)
n.5122A>G
c.8080A>G (p.Thr2694Ala)
c.7459A>G (p.Thr2487Ala)
c.8179A>G (p.Thr2727Ala)
c.8677A>G (p.Thr2893Ala)
c.6274A>G (p.Thr2092Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237336420T>GCA351191862COL6A3c.1325A>C
c.8062A>C (p.Thr2688Pro)
c.807A>C
n.947A>C
c.8680A>C (p.Thr2894Pro)
c.6856A>C (p.Thr2286Pro)
c.6859A>C (p.Thr2287Pro)
n.5122A>C
c.8080A>C (p.Thr2694Pro)
c.7459A>C (p.Thr2487Pro)
c.8179A>C (p.Thr2727Pro)
c.8677A>C (p.Thr2893Pro)
c.6274A>C (p.Thr2092Pro)
2g.237336420T=CA1337607188COL6A3c.1325A=
c.8062A= (p.Thr2688=)
c.807A=
n.947A=
c.8680A= (p.Thr2894=)
c.6856A= (p.Thr2286=)
c.6859A= (p.Thr2287=)
n.5122A=
c.8080A= (p.Thr2694=)
c.7459A= (p.Thr2487=)
c.8179A= (p.Thr2727=)
c.8677A= (p.Thr2893=)
c.6274A= (p.Thr2092=)
2g.237336421T>ACA431702458COL6A3c.1324A>T
c.8061A>T (p.Thr2687=)
c.806A>T
n.946A>T
c.8679A>T (p.Thr2893=)
c.6855A>T (p.Thr2285=)
c.6858A>T (p.Thr2286=)
n.5121A>T
c.8079A>T (p.Thr2693=)
c.7458A>T (p.Thr2486=)
c.8178A>T (p.Thr2726=)
c.8676A>T (p.Thr2892=)
c.6273A>T (p.Thr2091=)
2g.237336421T>CCA431702454COL6A3c.1324A>G
c.8061A>G (p.Thr2687=)
c.806A>G
n.946A>G
c.8679A>G (p.Thr2893=)
c.6855A>G (p.Thr2285=)
c.6858A>G (p.Thr2286=)
n.5121A>G
c.8079A>G (p.Thr2693=)
c.7458A>G (p.Thr2486=)
c.8178A>G (p.Thr2726=)
c.8676A>G (p.Thr2892=)
c.6273A>G (p.Thr2091=)
2g.237336421T>GCA431702456COL6A3c.1324A>C
c.8061A>C (p.Thr2687=)
c.806A>C
n.946A>C
c.8679A>C (p.Thr2893=)
c.6855A>C (p.Thr2285=)
c.6858A>C (p.Thr2286=)
n.5121A>C
c.8079A>C (p.Thr2693=)
c.7458A>C (p.Thr2486=)
c.8178A>C (p.Thr2726=)
c.8676A>C (p.Thr2892=)
c.6273A>C (p.Thr2091=)
2g.237336422G>ACA351191865COL6A3c.1323C>T
c.8060C>T (p.Thr2687Ile)
c.805C>T
n.945C>T
c.8678C>T (p.Thr2893Ile)
c.6854C>T (p.Thr2285Ile)
c.6857C>T (p.Thr2286Ile)
n.5120C>T
c.8078C>T (p.Thr2693Ile)
c.7457C>T (p.Thr2486Ile)
c.8177C>T (p.Thr2726Ile)
c.8675C>T (p.Thr2892Ile)
c.6272C>T (p.Thr2091Ile)
2g.237336422G>CCA351191863COL6A3c.1323C>G
c.8060C>G (p.Thr2687Arg)
c.805C>G
n.945C>G
c.8678C>G (p.Thr2893Arg)
c.6854C>G (p.Thr2285Arg)
c.6857C>G (p.Thr2286Arg)
n.5120C>G
c.8078C>G (p.Thr2693Arg)
c.7457C>G (p.Thr2486Arg)
c.8177C>G (p.Thr2726Arg)
c.8675C>G (p.Thr2892Arg)
c.6272C>G (p.Thr2091Arg)
2g.237336422G>TCA351191864COL6A3c.1323C>A
c.8060C>A (p.Thr2687Lys)
c.805C>A
n.945C>A
c.8678C>A (p.Thr2893Lys)
c.6854C>A (p.Thr2285Lys)
c.6857C>A (p.Thr2286Lys)
n.5120C>A
c.8078C>A (p.Thr2693Lys)
c.7457C>A (p.Thr2486Lys)
c.8177C>A (p.Thr2726Lys)
c.8675C>A (p.Thr2892Lys)
c.6272C>A (p.Thr2091Lys)
2g.237336423T>ACA351191866COL6A3c.1322A>T
c.8059A>T (p.Thr2687Ser)
c.804A>T
n.944A>T
c.8677A>T (p.Thr2893Ser)
c.6853A>T (p.Thr2285Ser)
c.6856A>T (p.Thr2286Ser)
n.5119A>T
c.8077A>T (p.Thr2693Ser)
c.7456A>T (p.Thr2486Ser)
c.8176A>T (p.Thr2726Ser)
c.8674A>T (p.Thr2892Ser)
c.6271A>T (p.Thr2091Ser)
2g.237336423T>CCA2187467COL6A3c.1322A>G
c.8059A>G (p.Thr2687Ala)
c.804A>G
n.944A>G
c.8677A>G (p.Thr2893Ala)
c.6853A>G (p.Thr2285Ala)
c.6856A>G (p.Thr2286Ala)
n.5119A>G
c.8077A>G (p.Thr2693Ala)
c.7456A>G (p.Thr2486Ala)
c.8176A>G (p.Thr2726Ala)
c.8674A>G (p.Thr2892Ala)
c.6271A>G (p.Thr2091Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237336423T>GCA351191867COL6A3c.1322A>C
c.8059A>C (p.Thr2687Pro)
c.804A>C
n.944A>C
c.8677A>C (p.Thr2893Pro)
c.6853A>C (p.Thr2285Pro)
c.6856A>C (p.Thr2286Pro)
n.5119A>C
c.8077A>C (p.Thr2693Pro)
c.7456A>C (p.Thr2486Pro)
c.8176A>C (p.Thr2726Pro)
c.8674A>C (p.Thr2892Pro)
c.6271A>C (p.Thr2091Pro)
2g.237336423T=CA1337607189COL6A3c.1322A=
c.8059A= (p.Thr2687=)
c.804A=
n.944A=
c.8677A= (p.Thr2893=)
c.6853A= (p.Thr2285=)
c.6856A= (p.Thr2286=)
n.5119A=
c.8077A= (p.Thr2693=)
c.7456A= (p.Thr2486=)
c.8176A= (p.Thr2726=)
c.8674A= (p.Thr2892=)
c.6271A= (p.Thr2091=)
2g.237336424G>ACA431702472COL6A3c.1321C>T
c.8058C>T (p.Thr2686=)
c.803C>T
n.943C>T
c.8676C>T (p.Thr2892=)
c.6852C>T (p.Thr2284=)
c.6855C>T (p.Thr2285=)
n.5118C>T
c.8076C>T (p.Thr2692=)
c.7455C>T (p.Thr2485=)
c.8175C>T (p.Thr2725=)
c.8673C>T (p.Thr2891=)
c.6270C>T (p.Thr2090=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237336424G>CCA431702474COL6A3c.1321C>G
c.8058C>G (p.Thr2686=)
c.803C>G
n.943C>G
c.8676C>G (p.Thr2892=)
c.6852C>G (p.Thr2284=)
c.6855C>G (p.Thr2285=)
n.5118C>G
c.8076C>G (p.Thr2692=)
c.7455C>G (p.Thr2485=)
c.8175C>G (p.Thr2725=)
c.8673C>G (p.Thr2891=)
c.6270C>G (p.Thr2090=)
 gnomAD v4
2g.237336424G=CA1337607190COL6A3c.1321C=
c.8058C= (p.Thr2686=)
c.803C=
n.943C=
c.8676C= (p.Thr2892=)
c.6852C= (p.Thr2284=)
c.6855C= (p.Thr2285=)
n.5118C=
c.8076C= (p.Thr2692=)
c.7455C= (p.Thr2485=)
c.8175C= (p.Thr2725=)
c.8673C= (p.Thr2891=)
c.6270C= (p.Thr2090=)
2g.237336424G>TCA431702476COL6A3c.1321C>A
c.8058C>A (p.Thr2686=)
c.803C>A
n.943C>A
c.8676C>A (p.Thr2892=)
c.6852C>A (p.Thr2284=)
c.6855C>A (p.Thr2285=)
n.5118C>A
c.8076C>A (p.Thr2692=)
c.7455C>A (p.Thr2485=)
c.8175C>A (p.Thr2725=)
c.8673C>A (p.Thr2891=)
c.6270C>A (p.Thr2090=)
 dbSNP gnomAD v4
2g.237336424_237336425insTTGGCA2754786750COL6A3c.1321_1322insCAAC
c.8058_8059insCAAC (p.Thr2687GlnfsTer?)
c.803_804insCAAC
n.943_944insCAAC
c.8676_8677insCAAC (p.Thr2893GlnfsTer?)
c.6852_6853insCAAC (p.Thr2285GlnfsTer?)
c.6855_6856insCAAC (p.Thr2286GlnfsTer?)
n.5118_5119insCAAC
c.8076_8077insCAAC (p.Thr2693GlnfsTer?)
c.7455_7456insCAAC (p.Thr2486GlnfsTer?)
c.8175_8176insCAAC (p.Thr2726GlnfsTer?)
c.8673_8674insCAAC (p.Thr2892GlnfsTer?)
c.6270_6271insCAAC (p.Thr2091GlnfsTer?)
2g.237336424_237336425insTTGGGTCA2754786751COL6A3c.1320_1321insACCCAA
c.8057_8058insACCCAA (p.Thr2686_Thr2687insProAsn)
c.802_803insACCCAA
n.942_943insACCCAA
c.8675_8676insACCCAA (p.Thr2892_Thr2893insProAsn)
c.6851_6852insACCCAA (p.Thr2284_Thr2285insProAsn)
c.6854_6855insACCCAA (p.Thr2285_Thr2286insProAsn)
n.5117_5118insACCCAA
c.8075_8076insACCCAA (p.Thr2692_Thr2693insProAsn)
c.7454_7455insACCCAA (p.Thr2485_Thr2486insProAsn)
c.8174_8175insACCCAA (p.Thr2725_Thr2726insProAsn)
c.8672_8673insACCCAA (p.Thr2891_Thr2892insProAsn)
c.6269_6270insACCCAA (p.Thr2090_Thr2091insProAsn)
2g.237336425G>ACA351191868COL6A3c.1320C>T
c.8057C>T (p.Thr2686Ile)
c.802C>T
n.942C>T
c.8675C>T (p.Thr2892Ile)
c.6851C>T (p.Thr2284Ile)
c.6854C>T (p.Thr2285Ile)
n.5117C>T
c.8075C>T (p.Thr2692Ile)
c.7454C>T (p.Thr2485Ile)
c.8174C>T (p.Thr2725Ile)
c.8672C>T (p.Thr2891Ile)
c.6269C>T (p.Thr2090Ile)
 gnomAD v4
2g.237336425G>CCA351191869COL6A3c.1320C>G
c.8057C>G (p.Thr2686Ser)
c.802C>G
n.942C>G
c.8675C>G (p.Thr2892Ser)
c.6851C>G (p.Thr2284Ser)
c.6854C>G (p.Thr2285Ser)
n.5117C>G
c.8075C>G (p.Thr2692Ser)
c.7454C>G (p.Thr2485Ser)
c.8174C>G (p.Thr2725Ser)
c.8672C>G (p.Thr2891Ser)
c.6269C>G (p.Thr2090Ser)
2g.237336425G>TCA351191870COL6A3c.1320C>A
c.8057C>A (p.Thr2686Asn)
c.802C>A
n.942C>A
c.8675C>A (p.Thr2892Asn)
c.6851C>A (p.Thr2284Asn)
c.6854C>A (p.Thr2285Asn)
n.5117C>A
c.8075C>A (p.Thr2692Asn)
c.7454C>A (p.Thr2485Asn)
c.8174C>A (p.Thr2725Asn)
c.8672C>A (p.Thr2891Asn)
c.6269C>A (p.Thr2090Asn)
2g.237336426T>ACA351191871COL6A3c.1319A>T
c.8056A>T (p.Thr2686Ser)
c.801A>T
n.941A>T
c.8674A>T (p.Thr2892Ser)
c.6850A>T (p.Thr2284Ser)
c.6853A>T (p.Thr2285Ser)
n.5116A>T
c.8074A>T (p.Thr2692Ser)
c.7453A>T (p.Thr2485Ser)
c.8173A>T (p.Thr2725Ser)
c.8671A>T (p.Thr2891Ser)
c.6268A>T (p.Thr2090Ser)
2g.237336426T>CCA351191873COL6A3c.1319A>G
c.8056A>G (p.Thr2686Ala)
c.801A>G
n.941A>G
c.8674A>G (p.Thr2892Ala)
c.6850A>G (p.Thr2284Ala)
c.6853A>G (p.Thr2285Ala)
n.5116A>G
c.8074A>G (p.Thr2692Ala)
c.7453A>G (p.Thr2485Ala)
c.8173A>G (p.Thr2725Ala)
c.8671A>G (p.Thr2891Ala)
c.6268A>G (p.Thr2090Ala)
2g.237336426T>GCA351191872COL6A3c.1319A>C
c.8056A>C (p.Thr2686Pro)
c.801A>C
n.941A>C
c.8674A>C (p.Thr2892Pro)
c.6850A>C (p.Thr2284Pro)
c.6853A>C (p.Thr2285Pro)
n.5116A>C
c.8074A>C (p.Thr2692Pro)
c.7453A>C (p.Thr2485Pro)
c.8173A>C (p.Thr2725Pro)
c.8671A>C (p.Thr2891Pro)
c.6268A>C (p.Thr2090Pro)
2g.237336426T=CA1337607191COL6A3c.1319A=
c.8056A= (p.Thr2686=)
c.801A=
n.941A=
c.8674A= (p.Thr2892=)
c.6850A= (p.Thr2284=)
c.6853A= (p.Thr2285=)
n.5116A=
c.8074A= (p.Thr2692=)
c.7453A= (p.Thr2485=)
c.8173A= (p.Thr2725=)
c.8671A= (p.Thr2891=)
c.6268A= (p.Thr2090=)
2g.237336427G>ACA431702490COL6A3c.1318C>T
c.8055C>T (p.Thr2685=)
c.800C>T
n.940C>T
c.8673C>T (p.Thr2891=)
c.6849C>T (p.Thr2283=)
c.6852C>T (p.Thr2284=)
n.5115C>T
c.8073C>T (p.Thr2691=)
c.7452C>T (p.Thr2484=)
c.8172C>T (p.Thr2724=)
c.8670C>T (p.Thr2890=)
c.6267C>T (p.Thr2089=)
2g.237336427G>CCA431702493COL6A3c.1318C>G
c.8055C>G (p.Thr2685=)
c.800C>G
n.940C>G
c.8673C>G (p.Thr2891=)
c.6849C>G (p.Thr2283=)
c.6852C>G (p.Thr2284=)
n.5115C>G
c.8073C>G (p.Thr2691=)
c.7452C>G (p.Thr2484=)
c.8172C>G (p.Thr2724=)
c.8670C>G (p.Thr2890=)
c.6267C>G (p.Thr2089=)
2g.237336427G=CA1337607192COL6A3c.1318C=
c.8055C= (p.Thr2685=)
c.800C=
n.940C=
c.8673C= (p.Thr2891=)
c.6849C= (p.Thr2283=)
c.6852C= (p.Thr2284=)
n.5115C=
c.8073C= (p.Thr2691=)
c.7452C= (p.Thr2484=)
c.8172C= (p.Thr2724=)
c.8670C= (p.Thr2890=)
c.6267C= (p.Thr2089=)
2g.237336427G>TCA2187468COL6A3c.1318C>A
c.8055C>A (p.Thr2685=)
c.800C>A
n.940C>A
c.8673C>A (p.Thr2891=)
c.6849C>A (p.Thr2283=)
c.6852C>A (p.Thr2284=)
n.5115C>A
c.8073C>A (p.Thr2691=)
c.7452C>A (p.Thr2484=)
c.8172C>A (p.Thr2724=)
c.8670C>A (p.Thr2890=)
c.6267C>A (p.Thr2089=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336428dupCA67830681COL6A3c.1318dup
c.8055dup (p.Thr2686HisfsTer?)
c.800dup
n.940dup
c.8673dup (p.Thr2892HisfsTer?)
c.6849dup (p.Thr2284HisfsTer?)
c.6852dup (p.Thr2285HisfsTer?)
n.5115dup
c.8073dup (p.Thr2692HisfsTer?)
c.7452dup (p.Thr2485HisfsTer?)
c.8172dup (p.Thr2725HisfsTer?)
c.8670dup (p.Thr2891HisfsTer?)
c.6267dup (p.Thr2090HisfsTer?)
 dbSNP
2g.237336427_237336428insTCA2754786752COL6A3c.1317_1318insA
c.8054_8055insA (p.Thr2686HisfsTer?)
c.799_800insA
n.939_940insA
c.8672_8673insA (p.Thr2892HisfsTer?)
c.6848_6849insA (p.Thr2284HisfsTer?)
c.6851_6852insA (p.Thr2285HisfsTer?)
n.5114_5115insA
c.8072_8073insA (p.Thr2692HisfsTer?)
c.7451_7452insA (p.Thr2485HisfsTer?)
c.8171_8172insA (p.Thr2725HisfsTer?)
c.8669_8670insA (p.Thr2891HisfsTer?)
c.6266_6267insA (p.Thr2090HisfsTer?)
2g.237336427_237336428insTGTTTGGTCA2754786753COL6A3c.1317_1318insACCAAACA
c.8054_8055insACCAAACA (p.Thr2686ProfsTer9)
c.799_800insACCAAACA
n.939_940insACCAAACA
c.8672_8673insACCAAACA (p.Thr2892ProfsTer9)
c.6848_6849insACCAAACA (p.Thr2284ProfsTer9)
c.6851_6852insACCAAACA (p.Thr2285ProfsTer9)
n.5114_5115insACCAAACA
c.8072_8073insACCAAACA (p.Thr2692ProfsTer9)
c.7451_7452insACCAAACA (p.Thr2485ProfsTer9)
c.8171_8172insACCAAACA (p.Thr2725ProfsTer9)
c.8669_8670insACCAAACA (p.Thr2891ProfsTer9)
c.6266_6267insACCAAACA (p.Thr2090ProfsTer9)
2g.237336428G>ACA351191874COL6A3c.1317C>T
c.8054C>T (p.Thr2685Ile)
c.799C>T
n.939C>T
c.8672C>T (p.Thr2891Ile)
c.6848C>T (p.Thr2283Ile)
c.6851C>T (p.Thr2284Ile)
n.5114C>T
c.8072C>T (p.Thr2691Ile)
c.7451C>T (p.Thr2484Ile)
c.8171C>T (p.Thr2724Ile)
c.8669C>T (p.Thr2890Ile)
c.6266C>T (p.Thr2089Ile)
2g.237336428G>CCA351191875COL6A3c.1317C>G
c.8054C>G (p.Thr2685Ser)
c.799C>G
n.939C>G
c.8672C>G (p.Thr2891Ser)
c.6848C>G (p.Thr2283Ser)
c.6851C>G (p.Thr2284Ser)
n.5114C>G
c.8072C>G (p.Thr2691Ser)
c.7451C>G (p.Thr2484Ser)
c.8171C>G (p.Thr2724Ser)
c.8669C>G (p.Thr2890Ser)
c.6266C>G (p.Thr2089Ser)
2g.237336428G>TCA351191876COL6A3c.1317C>A
c.8054C>A (p.Thr2685Asn)
c.799C>A
n.939C>A
c.8672C>A (p.Thr2891Asn)
c.6848C>A (p.Thr2283Asn)
c.6851C>A (p.Thr2284Asn)
n.5114C>A
c.8072C>A (p.Thr2691Asn)
c.7451C>A (p.Thr2484Asn)
c.8171C>A (p.Thr2724Asn)
c.8669C>A (p.Thr2890Asn)
c.6266C>A (p.Thr2089Asn)
2g.237336428_237336429insGTGTGTCA2754786754COL6A3c.1316_1317insACACAC
c.8053_8054insACACAC (p.Thr2685delinsAsnThrPro)
c.798_799insACACAC
n.938_939insACACAC
c.8671_8672insACACAC (p.Thr2891delinsAsnThrPro)
c.6847_6848insACACAC (p.Thr2283delinsAsnThrPro)
c.6850_6851insACACAC (p.Thr2284delinsAsnThrPro)
n.5113_5114insACACAC
c.8071_8072insACACAC (p.Thr2691delinsAsnThrPro)
c.7450_7451insACACAC (p.Thr2484delinsAsnThrPro)
c.8170_8171insACACAC (p.Thr2724delinsAsnThrPro)
c.8668_8669insACACAC (p.Thr2890delinsAsnThrPro)
c.6265_6266insACACAC (p.Thr2089delinsAsnThrPro)
2g.237336429T>ACA351191877COL6A3c.1316A>T
c.8053A>T (p.Thr2685Ser)
c.798A>T
n.938A>T
c.8671A>T (p.Thr2891Ser)
c.6847A>T (p.Thr2283Ser)
c.6850A>T (p.Thr2284Ser)
n.5113A>T
c.8071A>T (p.Thr2691Ser)
c.7450A>T (p.Thr2484Ser)
c.8170A>T (p.Thr2724Ser)
c.8668A>T (p.Thr2890Ser)
c.6265A>T (p.Thr2089Ser)
2g.237336429T>CCA351191878COL6A3c.1316A>G
c.8053A>G (p.Thr2685Ala)
c.798A>G
n.938A>G
c.8671A>G (p.Thr2891Ala)
c.6847A>G (p.Thr2283Ala)
c.6850A>G (p.Thr2284Ala)
n.5113A>G
c.8071A>G (p.Thr2691Ala)
c.7450A>G (p.Thr2484Ala)
c.8170A>G (p.Thr2724Ala)
c.8668A>G (p.Thr2890Ala)
c.6265A>G (p.Thr2089Ala)
2g.237336429T>GCA351191879COL6A3c.1316A>C
c.8053A>C (p.Thr2685Pro)
c.798A>C
n.938A>C
c.8671A>C (p.Thr2891Pro)
c.6847A>C (p.Thr2283Pro)
c.6850A>C (p.Thr2284Pro)
n.5113A>C
c.8071A>C (p.Thr2691Pro)
c.7450A>C (p.Thr2484Pro)
c.8170A>C (p.Thr2724Pro)
c.8668A>C (p.Thr2890Pro)
c.6265A>C (p.Thr2089Pro)
2g.237336430T>ACA431702495COL6A3c.1315A>T
c.8052A>T (p.Val2684=)
c.797A>T
n.937A>T
c.8670A>T (p.Val2890=)
c.6846A>T (p.Val2282=)
c.6849A>T (p.Val2283=)
n.5112A>T
c.8070A>T (p.Val2690=)
c.7449A>T (p.Val2483=)
c.8169A>T (p.Val2723=)
c.8667A>T (p.Val2889=)
c.6264A>T (p.Val2088=)
2g.237336430T>CCA67830694COL6A3c.1315A>G
c.8052A>G (p.Val2684=)
c.797A>G
n.937A>G
c.8670A>G (p.Val2890=)
c.6846A>G (p.Val2282=)
c.6849A>G (p.Val2283=)
n.5112A>G
c.8070A>G (p.Val2690=)
c.7449A>G (p.Val2483=)
c.8169A>G (p.Val2723=)
c.8667A>G (p.Val2889=)
c.6264A>G (p.Val2088=)
 ClinVar dbSNP
2g.237336430T>GCA431702494COL6A3c.1315A>C
c.8052A>C (p.Val2684=)
c.797A>C
n.937A>C
c.8670A>C (p.Val2890=)
c.6846A>C (p.Val2282=)
c.6849A>C (p.Val2283=)
n.5112A>C
c.8070A>C (p.Val2690=)
c.7449A>C (p.Val2483=)
c.8169A>C (p.Val2723=)
c.8667A>C (p.Val2889=)
c.6264A>C (p.Val2088=)
2g.237336430T=CA1337607193COL6A3c.1315A=
c.8052A= (p.Val2684=)
c.797A=
n.937A=
c.8670A= (p.Val2890=)
c.6846A= (p.Val2282=)
c.6849A= (p.Val2283=)
n.5112A=
c.8070A= (p.Val2690=)
c.7449A= (p.Val2483=)
c.8169A= (p.Val2723=)
c.8667A= (p.Val2889=)
c.6264A= (p.Val2088=)
2g.237336431A=CA1337607195COL6A3c.1314T=
c.8051T= (p.Val2684=)
c.796T=
n.936T=
c.8669T= (p.Val2890=)
c.6845T= (p.Val2282=)
c.6848T= (p.Val2283=)
n.5111T=
c.8069T= (p.Val2690=)
c.7448T= (p.Val2483=)
c.8168T= (p.Val2723=)
c.8666T= (p.Val2889=)
c.6263T= (p.Val2088=)
2g.237336431A>CCA351191880COL6A3c.1314T>G
c.8051T>G (p.Val2684Gly)
c.796T>G
n.936T>G
c.8669T>G (p.Val2890Gly)
c.6845T>G (p.Val2282Gly)
c.6848T>G (p.Val2283Gly)
n.5111T>G
c.8069T>G (p.Val2690Gly)
c.7448T>G (p.Val2483Gly)
c.8168T>G (p.Val2723Gly)
c.8666T>G (p.Val2889Gly)
c.6263T>G (p.Val2088Gly)
2g.237336431A>GCA2187469COL6A3c.1314T>C
c.8051T>C (p.Val2684Ala)
c.796T>C
n.936T>C
c.8669T>C (p.Val2890Ala)
c.6845T>C (p.Val2282Ala)
c.6848T>C (p.Val2283Ala)
n.5111T>C
c.8069T>C (p.Val2690Ala)
c.7448T>C (p.Val2483Ala)
c.8168T>C (p.Val2723Ala)
c.8666T>C (p.Val2889Ala)
c.6263T>C (p.Val2088Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237336431A>TCA351191881COL6A3c.1314T>A
c.8051T>A (p.Val2684Glu)
c.796T>A
n.936T>A
c.8669T>A (p.Val2890Glu)
c.6845T>A (p.Val2282Glu)
c.6848T>A (p.Val2283Glu)
n.5111T>A
c.8069T>A (p.Val2690Glu)
c.7448T>A (p.Val2483Glu)
c.8168T>A (p.Val2723Glu)
c.8666T>A (p.Val2889Glu)
c.6263T>A (p.Val2088Glu)
2g.237336431_237336433delCA2754786755COL6A3c.1312_1314del
c.8049_8051del (p.Val2684del)
c.794_796del
n.934_936del
c.8667_8669del (p.Val2890del)
c.6843_6845del (p.Val2282del)
c.6846_6848del (p.Val2283del)
n.5109_5111del
c.8067_8069del (p.Val2690del)
c.7446_7448del (p.Val2483del)
c.8166_8168del (p.Val2723del)
c.8664_8666del (p.Val2889del)
c.6261_6263del (p.Val2088del)
2g.237336433_237336453dupCA1337607194COL6A3c.1294_1314dup
c.8031_8051dup (p.Val2684_Thr2685insThrThrThrThrLysProVal)
c.776_796dup
n.916_936dup
c.8649_8669dup (p.Val2890_Thr2891insThrThrThrThrLysProVal)
c.6825_6845dup (p.Val2282_Thr2283insThrThrThrThrLysProVal)
c.6828_6848dup (p.Val2283_Thr2284insThrThrThrThrLysProVal)
n.5091_5111dup
c.8049_8069dup (p.Val2690_Thr2691insThrThrThrThrLysProVal)
c.7428_7448dup (p.Val2483_Thr2484insThrThrThrThrLysProVal)
c.8148_8168dup (p.Val2723_Thr2724insThrThrThrThrLysProVal)
c.8646_8666dup (p.Val2889_Thr2890insThrThrThrThrLysProVal)
c.6243_6263dup (p.Val2088_Thr2089insThrThrThrThrLysProVal)
 dbSNP
2g.237336432C>ACA351191882COL6A3c.1313G>T
c.8050G>T (p.Val2684Leu)
c.795G>T
n.935G>T
c.8668G>T (p.Val2890Leu)
c.6844G>T (p.Val2282Leu)
c.6847G>T (p.Val2283Leu)
n.5110G>T
c.8068G>T (p.Val2690Leu)
c.7447G>T (p.Val2483Leu)
c.8167G>T (p.Val2723Leu)
c.8665G>T (p.Val2889Leu)
c.6262G>T (p.Val2088Leu)
2g.237336432C>GCA351191884COL6A3c.1313G>C
c.8050G>C (p.Val2684Leu)
c.795G>C
n.935G>C
c.8668G>C (p.Val2890Leu)
c.6844G>C (p.Val2282Leu)
c.6847G>C (p.Val2283Leu)
n.5110G>C
c.8068G>C (p.Val2690Leu)
c.7447G>C (p.Val2483Leu)
c.8167G>C (p.Val2723Leu)
c.8665G>C (p.Val2889Leu)
c.6262G>C (p.Val2088Leu)
2g.237336432C>TCA351191883COL6A3c.1313G>A
c.8050G>A (p.Val2684Ile)
c.795G>A
n.935G>A
c.8668G>A (p.Val2890Ile)
c.6844G>A (p.Val2282Ile)
c.6847G>A (p.Val2283Ile)
n.5110G>A
c.8068G>A (p.Val2690Ile)
c.7447G>A (p.Val2483Ile)
c.8167G>A (p.Val2723Ile)
c.8665G>A (p.Val2889Ile)
c.6262G>A (p.Val2088Ile)
2g.237336433A=CA1337607196COL6A3c.1312T=
c.8049T= (p.Pro2683=)
c.794T=
n.934T=
c.8667T= (p.Pro2889=)
c.6843T= (p.Pro2281=)
c.6846T= (p.Pro2282=)
n.5109T=
c.8067T= (p.Pro2689=)
c.7446T= (p.Pro2482=)
c.8166T= (p.Pro2722=)
c.8664T= (p.Pro2888=)
c.6261T= (p.Pro2087=)
2g.237336433A>CCA431702496COL6A3c.1312T>G
c.8049T>G (p.Pro2683=)
c.794T>G
n.934T>G
c.8667T>G (p.Pro2889=)
c.6843T>G (p.Pro2281=)
c.6846T>G (p.Pro2282=)
n.5109T>G
c.8067T>G (p.Pro2689=)
c.7446T>G (p.Pro2482=)
c.8166T>G (p.Pro2722=)
c.8664T>G (p.Pro2888=)
c.6261T>G (p.Pro2087=)
 COSMIC
2g.237336433A>GCA431702497COL6A3c.1312T>C
c.8049T>C (p.Pro2683=)
c.794T>C
n.934T>C
c.8667T>C (p.Pro2889=)
c.6843T>C (p.Pro2281=)
c.6846T>C (p.Pro2282=)
n.5109T>C
c.8067T>C (p.Pro2689=)
c.7446T>C (p.Pro2482=)
c.8166T>C (p.Pro2722=)
c.8664T>C (p.Pro2888=)
c.6261T>C (p.Pro2087=)
 ClinVar dbSNP gnomAD v4
2g.237336433A>TCA431702498COL6A3c.1312T>A
c.8049T>A (p.Pro2683=)
c.794T>A
n.934T>A
c.8667T>A (p.Pro2889=)
c.6843T>A (p.Pro2281=)
c.6846T>A (p.Pro2282=)
n.5109T>A
c.8067T>A (p.Pro2689=)
c.7446T>A (p.Pro2482=)
c.8166T>A (p.Pro2722=)
c.8664T>A (p.Pro2888=)
c.6261T>A (p.Pro2087=)
2g.237336434G>ACA351191885COL6A3c.1311C>T
c.8048C>T (p.Pro2683Leu)
c.793C>T
n.933C>T
c.8666C>T (p.Pro2889Leu)
c.6842C>T (p.Pro2281Leu)
c.6845C>T (p.Pro2282Leu)
n.5108C>T
c.8066C>T (p.Pro2689Leu)
c.7445C>T (p.Pro2482Leu)
c.8165C>T (p.Pro2722Leu)
c.8663C>T (p.Pro2888Leu)
c.6260C>T (p.Pro2087Leu)
 dbSNP
2g.237336434G>CCA351191886COL6A3c.1311C>G
c.8048C>G (p.Pro2683Arg)
c.793C>G
n.933C>G
c.8666C>G (p.Pro2889Arg)
c.6842C>G (p.Pro2281Arg)
c.6845C>G (p.Pro2282Arg)
n.5108C>G
c.8066C>G (p.Pro2689Arg)
c.7445C>G (p.Pro2482Arg)
c.8165C>G (p.Pro2722Arg)
c.8663C>G (p.Pro2888Arg)
c.6260C>G (p.Pro2087Arg)
2g.237336434G=CA1337607197COL6A3c.1311C=
c.8048C= (p.Pro2683=)
c.793C=
n.933C=
c.8666C= (p.Pro2889=)
c.6842C= (p.Pro2281=)
c.6845C= (p.Pro2282=)
n.5108C=
c.8066C= (p.Pro2689=)
c.7445C= (p.Pro2482=)
c.8165C= (p.Pro2722=)
c.8663C= (p.Pro2888=)
c.6260C= (p.Pro2087=)
2g.237336434G>TCA351191887COL6A3c.1311C>A
c.8048C>A (p.Pro2683His)
c.793C>A
n.933C>A
c.8666C>A (p.Pro2889His)
c.6842C>A (p.Pro2281His)
c.6845C>A (p.Pro2282His)
n.5108C>A
c.8066C>A (p.Pro2689His)
c.7445C>A (p.Pro2482His)
c.8165C>A (p.Pro2722His)
c.8663C>A (p.Pro2888His)
c.6260C>A (p.Pro2087His)
2g.237336439_237336459dupCA2187470COL6A3c.1291_1311dup
c.8028_8048dup (p.Pro2683_Val2684insValThrThrThrThrLysPro)
c.773_793dup
n.913_933dup
c.8646_8666dup (p.Pro2889_Val2890insValThrThrThrThrLysPro)
c.6822_6842dup (p.Pro2281_Val2282insValThrThrThrThrLysPro)
c.6825_6845dup (p.Pro2282_Val2283insValThrThrThrThrLysPro)
n.5088_5108dup
c.8046_8066dup (p.Pro2689_Val2690insValThrThrThrThrLysPro)
c.7425_7445dup (p.Pro2482_Val2483insValThrThrThrThrLysPro)
c.8145_8165dup (p.Pro2722_Val2723insValThrThrThrThrLysPro)
c.8643_8663dup (p.Pro2888_Val2889insValThrThrThrThrLysPro)
c.6240_6260dup (p.Pro2087_Val2088insValThrThrThrThrLysPro)
 dbSNP ExAC gnomAD v2

Number of alleles fetched