Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.237336445_237336463delinsGGTGGTCACCGGCTTCGTC	CA1337607203	COL6A3	c.1282_1300delinsGACGAAGCCGGTGACCACC c.8019_8037delinsGACGAAGCCGGTGACCACC (p.Thr2673=) c.764_782delinsGACGAAGCCGGTGACCACC n.904_922delinsGACGAAGCCGGTGACCACC c.8637_8655delinsGACGAAGCCGGTGACCACC (p.Thr2879=) c.6813_6831delinsGACGAAGCCGGTGACCACC (p.Thr2271=) c.6816_6834delinsGACGAAGCCGGTGACCACC (p.Thr2272=) n.5079_5097delinsGACGAAGCCGGTGACCACC c.8037_8055delinsGACGAAGCCGGTGACCACC (p.Thr2679=) c.7416_7434delinsGACGAAGCCGGTGACCACC (p.Thr2472=) c.8136_8154delinsGACGAAGCCGGTGACCACC (p.Thr2712=) c.8634_8652delinsGACGAAGCCGGTGACCACC (p.Thr2878=) c.6231_6249delinsGACGAAGCCGGTGACCACC (p.Thr2077=)
2	g.237336448_237336465dup	CA540749778	COL6A3	c.1282_1299dup c.8019_8036dup (p.Thr2679_Thr2680insThrLysProValThrThr) c.764_781dup n.904_921dup c.8637_8654dup (p.Thr2885_Thr2886insThrLysProValThrThr) c.6813_6830dup (p.Thr2277_Thr2278insThrLysProValThrThr) c.6816_6833dup (p.Thr2278_Thr2279insThrLysProValThrThr) n.5079_5096dup c.8037_8054dup (p.Thr2685_Thr2686insThrLysProValThrThr) c.7416_7433dup (p.Thr2478_Thr2479insThrLysProValThrThr) c.8136_8153dup (p.Thr2718_Thr2719insThrLysProValThrThr) c.8634_8651dup (p.Thr2884_Thr2885insThrLysProValThrThr) c.6231_6248dup (p.Thr2083_Thr2084insThrLysProValThrThr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336448_237336465del	CA766623425	COL6A3	c.1282_1299del c.8019_8036del (p.Thr2674_Thr2679del) c.764_781del n.904_921del c.8637_8654del (p.Thr2880_Thr2885del) c.6813_6830del (p.Thr2272_Thr2277del) c.6816_6833del (p.Thr2273_Thr2278del) n.5079_5096del c.8037_8054del (p.Thr2680_Thr2685del) c.7416_7433del (p.Thr2473_Thr2478del) c.8136_8153del (p.Thr2713_Thr2718del) c.8634_8651del (p.Thr2879_Thr2884del) c.6231_6248del (p.Thr2078_Thr2083del)	dbSNP
2	g.237336448_237336466delinsGGTCACCGGCTTCGTCGTA	CA1337607204	COL6A3	c.1279_1297delinsTACGACGAAGCCGGTGACC c.8016_8034delinsTACGACGAAGCCGGTGACC (p.Thr2672=) c.761_779delinsTACGACGAAGCCGGTGACC n.901_919delinsTACGACGAAGCCGGTGACC c.8634_8652delinsTACGACGAAGCCGGTGACC (p.Thr2878=) c.6810_6828delinsTACGACGAAGCCGGTGACC (p.Thr2270=) c.6813_6831delinsTACGACGAAGCCGGTGACC (p.Thr2271=) n.5076_5094delinsTACGACGAAGCCGGTGACC c.8034_8052delinsTACGACGAAGCCGGTGACC (p.Thr2678=) c.7413_7431delinsTACGACGAAGCCGGTGACC (p.Thr2471=) c.8133_8151delinsTACGACGAAGCCGGTGACC (p.Thr2711=) c.8631_8649delinsTACGACGAAGCCGGTGACC (p.Thr2877=) c.6228_6246delinsTACGACGAAGCCGGTGACC (p.Thr2076=)
2	g.237336463_237336480del	CA2187473	COL6A3	c.1279_1296del c.8016_8033del (p.Thr2673_Thr2678del) c.761_778del n.901_918del c.8634_8651del (p.Thr2879_Thr2884del) c.6810_6827del (p.Thr2271_Thr2276del) c.6813_6830del (p.Thr2272_Thr2277del) n.5076_5093del c.8034_8051del (p.Thr2679_Thr2684del) c.7413_7430del (p.Thr2472_Thr2477del) c.8133_8150del (p.Thr2712_Thr2717del) c.8631_8648del (p.Thr2878_Thr2883del) c.6228_6245del (p.Thr2077_Thr2082del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336463C>A	CA431674895	COL6A3	c.1282G>T c.8019G>T (p.Thr2673=) c.764G>T n.904G>T c.8637G>T (p.Thr2879=) c.6813G>T (p.Thr2271=) c.6816G>T (p.Thr2272=) n.5079G>T c.8037G>T (p.Thr2679=) c.7416G>T (p.Thr2472=) c.8136G>T (p.Thr2712=) c.8634G>T (p.Thr2878=) c.6231G>T (p.Thr2077=)	gnomAD v4
2	g.237336463C=	CA1337607215	COL6A3	c.1282G= c.8019G= (p.Thr2673=) c.764G= n.904G= c.8637G= (p.Thr2879=) c.6813G= (p.Thr2271=) c.6816G= (p.Thr2272=) n.5079G= c.8037G= (p.Thr2679=) c.7416G= (p.Thr2472=) c.8136G= (p.Thr2712=) c.8634G= (p.Thr2878=) c.6231G= (p.Thr2077=)
2	g.237336463C>G	CA431674896	COL6A3	c.1282G>C c.8019G>C (p.Thr2673=) c.764G>C n.904G>C c.8637G>C (p.Thr2879=) c.6813G>C (p.Thr2271=) c.6816G>C (p.Thr2272=) n.5079G>C c.8037G>C (p.Thr2679=) c.7416G>C (p.Thr2472=) c.8136G>C (p.Thr2712=) c.8634G>C (p.Thr2878=) c.6231G>C (p.Thr2077=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237336463C>T	CA431674897	COL6A3	c.1282G>A c.8019G>A (p.Thr2673=) c.764G>A n.904G>A c.8637G>A (p.Thr2879=) c.6813G>A (p.Thr2271=) c.6816G>A (p.Thr2272=) n.5079G>A c.8037G>A (p.Thr2679=) c.7416G>A (p.Thr2472=) c.8136G>A (p.Thr2712=) c.8634G>A (p.Thr2878=) c.6231G>A (p.Thr2077=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.237336464G>A	CA2187481	COL6A3	c.1281C>T c.8018C>T (p.Thr2673Met) c.763C>T n.903C>T c.8636C>T (p.Thr2879Met) c.6812C>T (p.Thr2271Met) c.6815C>T (p.Thr2272Met) n.5078C>T c.8036C>T (p.Thr2679Met) c.7415C>T (p.Thr2472Met) c.8135C>T (p.Thr2712Met) c.8633C>T (p.Thr2878Met) c.6230C>T (p.Thr2077Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336464G>C	CA351191943	COL6A3	c.1281C>G c.8018C>G (p.Thr2673Arg) c.763C>G n.903C>G c.8636C>G (p.Thr2879Arg) c.6812C>G (p.Thr2271Arg) c.6815C>G (p.Thr2272Arg) n.5078C>G c.8036C>G (p.Thr2679Arg) c.7415C>G (p.Thr2472Arg) c.8135C>G (p.Thr2712Arg) c.8633C>G (p.Thr2878Arg) c.6230C>G (p.Thr2077Arg)
2	g.237336464G=	CA1337607216	COL6A3	c.1281C= c.8018C= (p.Thr2673=) c.763C= n.903C= c.8636C= (p.Thr2879=) c.6812C= (p.Thr2271=) c.6815C= (p.Thr2272=) n.5078C= c.8036C= (p.Thr2679=) c.7415C= (p.Thr2472=) c.8135C= (p.Thr2712=) c.8633C= (p.Thr2878=) c.6230C= (p.Thr2077=)
2	g.237336464G>T	CA351191944	COL6A3	c.1281C>A c.8018C>A (p.Thr2673Lys) c.763C>A n.903C>A c.8636C>A (p.Thr2879Lys) c.6812C>A (p.Thr2271Lys) c.6815C>A (p.Thr2272Lys) n.5078C>A c.8036C>A (p.Thr2679Lys) c.7415C>A (p.Thr2472Lys) c.8135C>A (p.Thr2712Lys) c.8633C>A (p.Thr2878Lys) c.6230C>A (p.Thr2077Lys)
2	g.237336465T>A	CA351191945	COL6A3	c.1280A>T c.8017A>T (p.Thr2673Ser) c.762A>T n.902A>T c.8635A>T (p.Thr2879Ser) c.6811A>T (p.Thr2271Ser) c.6814A>T (p.Thr2272Ser) n.5077A>T c.8035A>T (p.Thr2679Ser) c.7414A>T (p.Thr2472Ser) c.8134A>T (p.Thr2712Ser) c.8632A>T (p.Thr2878Ser) c.6229A>T (p.Thr2077Ser)
2	g.237336465T>C	CA2187483	COL6A3	c.1280A>G c.8017A>G (p.Thr2673Ala) c.762A>G n.902A>G c.8635A>G (p.Thr2879Ala) c.6811A>G (p.Thr2271Ala) c.6814A>G (p.Thr2272Ala) n.5077A>G c.8035A>G (p.Thr2679Ala) c.7414A>G (p.Thr2472Ala) c.8134A>G (p.Thr2712Ala) c.8632A>G (p.Thr2878Ala) c.6229A>G (p.Thr2077Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336465T>G	CA351191946	COL6A3	c.1280A>C c.8017A>C (p.Thr2673Pro) c.762A>C n.902A>C c.8635A>C (p.Thr2879Pro) c.6811A>C (p.Thr2271Pro) c.6814A>C (p.Thr2272Pro) n.5077A>C c.8035A>C (p.Thr2679Pro) c.7414A>C (p.Thr2472Pro) c.8134A>C (p.Thr2712Pro) c.8632A>C (p.Thr2878Pro) c.6229A>C (p.Thr2077Pro)
2	g.237336465T=	CA1337607217	COL6A3	c.1280A= c.8017A= (p.Thr2673=) c.762A= n.902A= c.8635A= (p.Thr2879=) c.6811A= (p.Thr2271=) c.6814A= (p.Thr2272=) n.5077A= c.8035A= (p.Thr2679=) c.7414A= (p.Thr2472=) c.8134A= (p.Thr2712=) c.8632A= (p.Thr2878=) c.6229A= (p.Thr2077=)
2	g.237336465dup	CA2187482	COL6A3	c.1280dup c.8017dup (p.Thr2673AsnfsTer?) c.762dup n.902dup c.8635dup (p.Thr2879AsnfsTer?) c.6811dup (p.Thr2271AsnfsTer?) c.6814dup (p.Thr2272AsnfsTer?) n.5077dup c.8035dup (p.Thr2679AsnfsTer?) c.7414dup (p.Thr2472AsnfsTer?) c.8134dup (p.Thr2712AsnfsTer?) c.8632dup (p.Thr2878AsnfsTer?) c.6229dup (p.Thr2077AsnfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336466del	CA2573051898	COL6A3	c.1279del c.8016del (p.Thr2673ArgfsTer5) c.761del n.901del c.8634del (p.Thr2879ArgfsTer5) c.6810del (p.Thr2271ArgfsTer5) c.6813del (p.Thr2272ArgfsTer5) n.5076del c.8034del (p.Thr2679ArgfsTer5) c.7413del (p.Thr2472ArgfsTer5) c.8133del (p.Thr2712ArgfsTer5) c.8631del (p.Thr2878ArgfsTer5) c.6228del (p.Thr2077ArgfsTer5)	ClinVar dbSNP
2	g.237336466A=	CA1337607218	COL6A3	c.1279T= c.8016T= (p.Thr2672=) c.761T= n.901T= c.8634T= (p.Thr2878=) c.6810T= (p.Thr2270=) c.6813T= (p.Thr2271=) n.5076T= c.8034T= (p.Thr2678=) c.7413T= (p.Thr2471=) c.8133T= (p.Thr2711=) c.8631T= (p.Thr2877=) c.6228T= (p.Thr2076=)
2	g.237336466A>C	CA2187485	COL6A3	c.1279T>G c.8016T>G (p.Thr2672=) c.761T>G n.901T>G c.8634T>G (p.Thr2878=) c.6810T>G (p.Thr2270=) c.6813T>G (p.Thr2271=) n.5076T>G c.8034T>G (p.Thr2678=) c.7413T>G (p.Thr2471=) c.8133T>G (p.Thr2711=) c.8631T>G (p.Thr2877=) c.6228T>G (p.Thr2076=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336466A>G	CA2187484	COL6A3	c.1279T>C c.8016T>C (p.Thr2672=) c.761T>C n.901T>C c.8634T>C (p.Thr2878=) c.6810T>C (p.Thr2270=) c.6813T>C (p.Thr2271=) n.5076T>C c.8034T>C (p.Thr2678=) c.7413T>C (p.Thr2471=) c.8133T>C (p.Thr2711=) c.8631T>C (p.Thr2877=) c.6228T>C (p.Thr2076=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336466A>T	CA431674898	COL6A3	c.1279T>A c.8016T>A (p.Thr2672=) c.761T>A n.901T>A c.8634T>A (p.Thr2878=) c.6810T>A (p.Thr2270=) c.6813T>A (p.Thr2271=) n.5076T>A c.8034T>A (p.Thr2678=) c.7413T>A (p.Thr2471=) c.8133T>A (p.Thr2711=) c.8631T>A (p.Thr2877=) c.6228T>A (p.Thr2076=)	ClinVar dbSNP
2	g.237336467G>A	CA351191947	COL6A3	c.1278C>T c.8015C>T (p.Thr2672Ile) c.760C>T n.900C>T c.8633C>T (p.Thr2878Ile) c.6809C>T (p.Thr2270Ile) c.6812C>T (p.Thr2271Ile) n.5075C>T c.8033C>T (p.Thr2678Ile) c.7412C>T (p.Thr2471Ile) c.8132C>T (p.Thr2711Ile) c.8630C>T (p.Thr2877Ile) c.6227C>T (p.Thr2076Ile)
2	g.237336467G>C	CA351191948	COL6A3	c.1278C>G c.8015C>G (p.Thr2672Ser) c.760C>G n.900C>G c.8633C>G (p.Thr2878Ser) c.6809C>G (p.Thr2270Ser) c.6812C>G (p.Thr2271Ser) n.5075C>G c.8033C>G (p.Thr2678Ser) c.7412C>G (p.Thr2471Ser) c.8132C>G (p.Thr2711Ser) c.8630C>G (p.Thr2877Ser) c.6227C>G (p.Thr2076Ser)
2	g.237336467G>T	CA351191949	COL6A3	c.1278C>A c.8015C>A (p.Thr2672Asn) c.760C>A n.900C>A c.8633C>A (p.Thr2878Asn) c.6809C>A (p.Thr2270Asn) c.6812C>A (p.Thr2271Asn) n.5075C>A c.8033C>A (p.Thr2678Asn) c.7412C>A (p.Thr2471Asn) c.8132C>A (p.Thr2711Asn) c.8630C>A (p.Thr2877Asn) c.6227C>A (p.Thr2076Asn)
2	g.237336468T>A	CA351191950	COL6A3	c.1277A>T c.8014A>T (p.Thr2672Ser) c.759A>T n.899A>T c.8632A>T (p.Thr2878Ser) c.6808A>T (p.Thr2270Ser) c.6811A>T (p.Thr2271Ser) n.5074A>T c.8032A>T (p.Thr2678Ser) c.7411A>T (p.Thr2471Ser) c.8131A>T (p.Thr2711Ser) c.8629A>T (p.Thr2877Ser) c.6226A>T (p.Thr2076Ser)
2	g.237336468T>C	CA2187486	COL6A3	c.1277A>G c.8014A>G (p.Thr2672Ala) c.759A>G n.899A>G c.8632A>G (p.Thr2878Ala) c.6808A>G (p.Thr2270Ala) c.6811A>G (p.Thr2271Ala) n.5074A>G c.8032A>G (p.Thr2678Ala) c.7411A>G (p.Thr2471Ala) c.8131A>G (p.Thr2711Ala) c.8629A>G (p.Thr2877Ala) c.6226A>G (p.Thr2076Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336468T>G	CA351191951	COL6A3	c.1277A>C c.8014A>C (p.Thr2672Pro) c.759A>C n.899A>C c.8632A>C (p.Thr2878Pro) c.6808A>C (p.Thr2270Pro) c.6811A>C (p.Thr2271Pro) n.5074A>C c.8032A>C (p.Thr2678Pro) c.7411A>C (p.Thr2471Pro) c.8131A>C (p.Thr2711Pro) c.8629A>C (p.Thr2877Pro) c.6226A>C (p.Thr2076Pro)
2	g.237336468T=	CA1337607219	COL6A3	c.1277A= c.8014A= (p.Thr2672=) c.759A= n.899A= c.8632A= (p.Thr2878=) c.6808A= (p.Thr2270=) c.6811A= (p.Thr2271=) n.5074A= c.8032A= (p.Thr2678=) c.7411A= (p.Thr2471=) c.8131A= (p.Thr2711=) c.8629A= (p.Thr2877=) c.6226A= (p.Thr2076=)
2	g.237336469C>A	CA431674901	COL6A3	c.1276G>T c.8013G>T (p.Val2671=) c.758G>T n.898G>T c.8631G>T (p.Val2877=) c.6807G>T (p.Val2269=) c.6810G>T (p.Val2270=) n.5073G>T c.8031G>T (p.Val2677=) c.7410G>T (p.Val2470=) c.8130G>T (p.Val2710=) c.8628G>T (p.Val2876=) c.6225G>T (p.Val2075=)
2	g.237336469C>G	CA431674899	COL6A3	c.1276G>C c.8013G>C (p.Val2671=) c.758G>C n.898G>C c.8631G>C (p.Val2877=) c.6807G>C (p.Val2269=) c.6810G>C (p.Val2270=) n.5073G>C c.8031G>C (p.Val2677=) c.7410G>C (p.Val2470=) c.8130G>C (p.Val2710=) c.8628G>C (p.Val2876=) c.6225G>C (p.Val2075=)
2	g.237336469C>T	CA431674900	COL6A3	c.1276G>A c.8013G>A (p.Val2671=) c.758G>A n.898G>A c.8631G>A (p.Val2877=) c.6807G>A (p.Val2269=) c.6810G>A (p.Val2270=) n.5073G>A c.8031G>A (p.Val2677=) c.7410G>A (p.Val2470=) c.8130G>A (p.Val2710=) c.8628G>A (p.Val2876=) c.6225G>A (p.Val2075=)	gnomAD v4
2	g.237336470A>C	CA351191952	COL6A3	c.1275T>G c.8012T>G (p.Val2671Gly) c.757T>G n.897T>G c.8630T>G (p.Val2877Gly) c.6806T>G (p.Val2269Gly) c.6809T>G (p.Val2270Gly) n.5072T>G c.8030T>G (p.Val2677Gly) c.7409T>G (p.Val2470Gly) c.8129T>G (p.Val2710Gly) c.8627T>G (p.Val2876Gly) c.6224T>G (p.Val2075Gly)
2	g.237336470A>G	CA351191953	COL6A3	c.1275T>C c.8012T>C (p.Val2671Ala) c.757T>C n.897T>C c.8630T>C (p.Val2877Ala) c.6806T>C (p.Val2269Ala) c.6809T>C (p.Val2270Ala) n.5072T>C c.8030T>C (p.Val2677Ala) c.7409T>C (p.Val2470Ala) c.8129T>C (p.Val2710Ala) c.8627T>C (p.Val2876Ala) c.6224T>C (p.Val2075Ala)
2	g.237336470A>T	CA351191954	COL6A3	c.1275T>A c.8012T>A (p.Val2671Glu) c.757T>A n.897T>A c.8630T>A (p.Val2877Glu) c.6806T>A (p.Val2269Glu) c.6809T>A (p.Val2270Glu) n.5072T>A c.8030T>A (p.Val2677Glu) c.7409T>A (p.Val2470Glu) c.8129T>A (p.Val2710Glu) c.8627T>A (p.Val2876Glu) c.6224T>A (p.Val2075Glu)
2	g.237336471C>A	CA351191955	COL6A3	c.1274G>T c.8011G>T (p.Val2671Leu) c.756G>T n.896G>T c.8629G>T (p.Val2877Leu) c.6805G>T (p.Val2269Leu) c.6808G>T (p.Val2270Leu) n.5071G>T c.8029G>T (p.Val2677Leu) c.7408G>T (p.Val2470Leu) c.8128G>T (p.Val2710Leu) c.8626G>T (p.Val2876Leu) c.6223G>T (p.Val2075Leu)
2	g.237336471C>G	CA351191956	COL6A3	c.1274G>C c.8011G>C (p.Val2671Leu) c.756G>C n.896G>C c.8629G>C (p.Val2877Leu) c.6805G>C (p.Val2269Leu) c.6808G>C (p.Val2270Leu) n.5071G>C c.8029G>C (p.Val2677Leu) c.7408G>C (p.Val2470Leu) c.8128G>C (p.Val2710Leu) c.8626G>C (p.Val2876Leu) c.6223G>C (p.Val2075Leu)
2	g.237336471C>T	CA351191957	COL6A3	c.1274G>A c.8011G>A (p.Val2671Met) c.756G>A n.896G>A c.8629G>A (p.Val2877Met) c.6805G>A (p.Val2269Met) c.6808G>A (p.Val2270Met) n.5071G>A c.8029G>A (p.Val2677Met) c.7408G>A (p.Val2470Met) c.8128G>A (p.Val2710Met) c.8626G>A (p.Val2876Met) c.6223G>A (p.Val2075Met)
2	g.237336472C>A	CA431674902	COL6A3	c.1273G>T c.8010G>T (p.Pro2670=) c.755G>T n.895G>T c.8628G>T (p.Pro2876=) c.6804G>T (p.Pro2268=) c.6807G>T (p.Pro2269=) n.5070G>T c.8028G>T (p.Pro2676=) c.7407G>T (p.Pro2469=) c.8127G>T (p.Pro2709=) c.8625G>T (p.Pro2875=) c.6222G>T (p.Pro2074=)
2	g.237336472C=	CA1337607220	COL6A3	c.1273G= c.8010G= (p.Pro2670=) c.755G= n.895G= c.8628G= (p.Pro2876=) c.6804G= (p.Pro2268=) c.6807G= (p.Pro2269=) n.5070G= c.8028G= (p.Pro2676=) c.7407G= (p.Pro2469=) c.8127G= (p.Pro2709=) c.8625G= (p.Pro2875=) c.6222G= (p.Pro2074=)
2	g.237336472C>G	CA431674903	COL6A3	c.1273G>C c.8010G>C (p.Pro2670=) c.755G>C n.895G>C c.8628G>C (p.Pro2876=) c.6804G>C (p.Pro2268=) c.6807G>C (p.Pro2269=) n.5070G>C c.8028G>C (p.Pro2676=) c.7407G>C (p.Pro2469=) c.8127G>C (p.Pro2709=) c.8625G>C (p.Pro2875=) c.6222G>C (p.Pro2074=)
2	g.237336472C>T	CA2187487	COL6A3	c.1273G>A c.8010G>A (p.Pro2670=) c.755G>A n.895G>A c.8628G>A (p.Pro2876=) c.6804G>A (p.Pro2268=) c.6807G>A (p.Pro2269=) n.5070G>A c.8028G>A (p.Pro2676=) c.7407G>A (p.Pro2469=) c.8127G>A (p.Pro2709=) c.8625G>A (p.Pro2875=) c.6222G>A (p.Pro2074=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336473G>A	CA2187488	COL6A3	c.1272C>T c.8009C>T (p.Pro2670Leu) c.754C>T n.894C>T c.8627C>T (p.Pro2876Leu) c.6803C>T (p.Pro2268Leu) c.6806C>T (p.Pro2269Leu) n.5069C>T c.8027C>T (p.Pro2676Leu) c.7406C>T (p.Pro2469Leu) c.8126C>T (p.Pro2709Leu) c.8624C>T (p.Pro2875Leu) c.6221C>T (p.Pro2074Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336473G>C	CA351191959	COL6A3	c.1272C>G c.8009C>G (p.Pro2670Arg) c.754C>G n.894C>G c.8627C>G (p.Pro2876Arg) c.6803C>G (p.Pro2268Arg) c.6806C>G (p.Pro2269Arg) n.5069C>G c.8027C>G (p.Pro2676Arg) c.7406C>G (p.Pro2469Arg) c.8126C>G (p.Pro2709Arg) c.8624C>G (p.Pro2875Arg) c.6221C>G (p.Pro2074Arg)
2	g.237336473G=	CA1337607221	COL6A3	c.1272C= c.8009C= (p.Pro2670=) c.754C= n.894C= c.8627C= (p.Pro2876=) c.6803C= (p.Pro2268=) c.6806C= (p.Pro2269=) n.5069C= c.8027C= (p.Pro2676=) c.7406C= (p.Pro2469=) c.8126C= (p.Pro2709=) c.8624C= (p.Pro2875=) c.6221C= (p.Pro2074=)
2	g.237336473G>T	CA351191958	COL6A3	c.1272C>A c.8009C>A (p.Pro2670Gln) c.754C>A n.894C>A c.8627C>A (p.Pro2876Gln) c.6803C>A (p.Pro2268Gln) c.6806C>A (p.Pro2269Gln) n.5069C>A c.8027C>A (p.Pro2676Gln) c.7406C>A (p.Pro2469Gln) c.8126C>A (p.Pro2709Gln) c.8624C>A (p.Pro2875Gln) c.6221C>A (p.Pro2074Gln)
2	g.237336474G>A	CA351191960	COL6A3	c.1271C>T c.8008C>T (p.Pro2670Ser) c.753C>T n.893C>T c.8626C>T (p.Pro2876Ser) c.6802C>T (p.Pro2268Ser) c.6805C>T (p.Pro2269Ser) n.5068C>T c.8026C>T (p.Pro2676Ser) c.7405C>T (p.Pro2469Ser) c.8125C>T (p.Pro2709Ser) c.8623C>T (p.Pro2875Ser) c.6220C>T (p.Pro2074Ser)
2	g.237336474G>C	CA2187489	COL6A3	c.1271C>G c.8008C>G (p.Pro2670Ala) c.753C>G n.893C>G c.8626C>G (p.Pro2876Ala) c.6802C>G (p.Pro2268Ala) c.6805C>G (p.Pro2269Ala) n.5068C>G c.8026C>G (p.Pro2676Ala) c.7405C>G (p.Pro2469Ala) c.8125C>G (p.Pro2709Ala) c.8623C>G (p.Pro2875Ala) c.6220C>G (p.Pro2074Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336474G=	CA1337607222	COL6A3	c.1271C= c.8008C= (p.Pro2670=) c.753C= n.893C= c.8626C= (p.Pro2876=) c.6802C= (p.Pro2268=) c.6805C= (p.Pro2269=) n.5068C= c.8026C= (p.Pro2676=) c.7405C= (p.Pro2469=) c.8125C= (p.Pro2709=) c.8623C= (p.Pro2875=) c.6220C= (p.Pro2074=)
2	g.237336474G>T	CA351191961	COL6A3	c.1271C>A c.8008C>A (p.Pro2670Thr) c.753C>A n.893C>A c.8626C>A (p.Pro2876Thr) c.6802C>A (p.Pro2268Thr) c.6805C>A (p.Pro2269Thr) n.5068C>A c.8026C>A (p.Pro2676Thr) c.7405C>A (p.Pro2469Thr) c.8125C>A (p.Pro2709Thr) c.8623C>A (p.Pro2875Thr) c.6220C>A (p.Pro2074Thr)	dbSNP gnomAD v4
2	g.237336475C>A	CA351191962	COL6A3	c.1270G>T c.8007G>T (p.Lys2669Asn) c.752G>T n.892G>T c.8625G>T (p.Lys2875Asn) c.6801G>T (p.Lys2267Asn) c.6804G>T (p.Lys2268Asn) n.5067G>T c.8025G>T (p.Lys2675Asn) c.7404G>T (p.Lys2468Asn) c.8124G>T (p.Lys2708Asn) c.8622G>T (p.Lys2874Asn) c.6219G>T (p.Lys2073Asn)
2	g.237336475C>G	CA351191963	COL6A3	c.1270G>C c.8007G>C (p.Lys2669Asn) c.752G>C n.892G>C c.8625G>C (p.Lys2875Asn) c.6801G>C (p.Lys2267Asn) c.6804G>C (p.Lys2268Asn) n.5067G>C c.8025G>C (p.Lys2675Asn) c.7404G>C (p.Lys2468Asn) c.8124G>C (p.Lys2708Asn) c.8622G>C (p.Lys2874Asn) c.6219G>C (p.Lys2073Asn)
2	g.237336475C>T	CA431674904	COL6A3	c.1270G>A c.8007G>A (p.Lys2669=) c.752G>A n.892G>A c.8625G>A (p.Lys2875=) c.6801G>A (p.Lys2267=) c.6804G>A (p.Lys2268=) n.5067G>A c.8025G>A (p.Lys2675=) c.7404G>A (p.Lys2468=) c.8124G>A (p.Lys2708=) c.8622G>A (p.Lys2874=) c.6219G>A (p.Lys2073=)
2	g.237336476T>A	CA351191964	COL6A3	c.1269A>T c.8006A>T (p.Lys2669Met) c.751A>T n.891A>T c.8624A>T (p.Lys2875Met) c.6800A>T (p.Lys2267Met) c.6803A>T (p.Lys2268Met) n.5066A>T c.8024A>T (p.Lys2675Met) c.7403A>T (p.Lys2468Met) c.8123A>T (p.Lys2708Met) c.8621A>T (p.Lys2874Met) c.6218A>T (p.Lys2073Met)
2	g.237336476T>C	CA351191965	COL6A3	c.1269A>G c.8006A>G (p.Lys2669Arg) c.751A>G n.891A>G c.8624A>G (p.Lys2875Arg) c.6800A>G (p.Lys2267Arg) c.6803A>G (p.Lys2268Arg) n.5066A>G c.8024A>G (p.Lys2675Arg) c.7403A>G (p.Lys2468Arg) c.8123A>G (p.Lys2708Arg) c.8621A>G (p.Lys2874Arg) c.6218A>G (p.Lys2073Arg)	gnomAD v4
2	g.237336476T>G	CA351191966	COL6A3	c.1269A>C c.8006A>C (p.Lys2669Thr) c.751A>C n.891A>C c.8624A>C (p.Lys2875Thr) c.6800A>C (p.Lys2267Thr) c.6803A>C (p.Lys2268Thr) n.5066A>C c.8024A>C (p.Lys2675Thr) c.7403A>C (p.Lys2468Thr) c.8123A>C (p.Lys2708Thr) c.8621A>C (p.Lys2874Thr) c.6218A>C (p.Lys2073Thr)
2	g.237336478_237336481del	CA2663792306	COL6A3	c.1266_1269del c.8003_8006del (p.Thr2668SerfsTer3) c.748_751del n.888_891del c.8621_8624del (p.Thr2874SerfsTer3) c.6797_6800del (p.Thr2266SerfsTer3) c.6800_6803del (p.Thr2267SerfsTer3) n.5063_5066del c.8021_8024del (p.Thr2674SerfsTer3) c.7400_7403del (p.Thr2467SerfsTer3) c.8120_8123del (p.Thr2707SerfsTer3) c.8618_8621del (p.Thr2873SerfsTer3) c.6215_6218del (p.Thr2072SerfsTer3)	gnomAD v4
2	g.237336477T>A	CA351191967	COL6A3	c.1268A>T c.8005A>T (p.Lys2669Ter) c.750A>T n.890A>T c.8623A>T (p.Lys2875Ter) c.6799A>T (p.Lys2267Ter) c.6802A>T (p.Lys2268Ter) n.5065A>T c.8023A>T (p.Lys2675Ter) c.7402A>T (p.Lys2468Ter) c.8122A>T (p.Lys2708Ter) c.8620A>T (p.Lys2874Ter) c.6217A>T (p.Lys2073Ter)
2	g.237336477T>C	CA351191968	COL6A3	c.1268A>G c.8005A>G (p.Lys2669Glu) c.750A>G n.890A>G c.8623A>G (p.Lys2875Glu) c.6799A>G (p.Lys2267Glu) c.6802A>G (p.Lys2268Glu) n.5065A>G c.8023A>G (p.Lys2675Glu) c.7402A>G (p.Lys2468Glu) c.8122A>G (p.Lys2708Glu) c.8620A>G (p.Lys2874Glu) c.6217A>G (p.Lys2073Glu)
2	g.237336477T>G	CA351191969	COL6A3	c.1268A>C c.8005A>C (p.Lys2669Gln) c.750A>C n.890A>C c.8623A>C (p.Lys2875Gln) c.6799A>C (p.Lys2267Gln) c.6802A>C (p.Lys2268Gln) n.5065A>C c.8023A>C (p.Lys2675Gln) c.7402A>C (p.Lys2468Gln) c.8122A>C (p.Lys2708Gln) c.8620A>C (p.Lys2874Gln) c.6217A>C (p.Lys2073Gln)
2	g.237336478C>A	CA431674905	COL6A3	c.1267G>T c.8004G>T (p.Thr2668=) c.749G>T n.889G>T c.8622G>T (p.Thr2874=) c.6798G>T (p.Thr2266=) c.6801G>T (p.Thr2267=) n.5064G>T c.8022G>T (p.Thr2674=) c.7401G>T (p.Thr2467=) c.8121G>T (p.Thr2707=) c.8619G>T (p.Thr2873=) c.6216G>T (p.Thr2072=)
2	g.237336478C=	CA1337607223	COL6A3	c.1267G= c.8004G= (p.Thr2668=) c.749G= n.889G= c.8622G= (p.Thr2874=) c.6798G= (p.Thr2266=) c.6801G= (p.Thr2267=) n.5064G= c.8022G= (p.Thr2674=) c.7401G= (p.Thr2467=) c.8121G= (p.Thr2707=) c.8619G= (p.Thr2873=) c.6216G= (p.Thr2072=)
2	g.237336478C>G	CA431674906	COL6A3	c.1267G>C c.8004G>C (p.Thr2668=) c.749G>C n.889G>C c.8622G>C (p.Thr2874=) c.6798G>C (p.Thr2266=) c.6801G>C (p.Thr2267=) n.5064G>C c.8022G>C (p.Thr2674=) c.7401G>C (p.Thr2467=) c.8121G>C (p.Thr2707=) c.8619G>C (p.Thr2873=) c.6216G>C (p.Thr2072=)
2	g.237336478C>T	CA2187490	COL6A3	c.1267G>A c.8004G>A (p.Thr2668=) c.749G>A n.889G>A c.8622G>A (p.Thr2874=) c.6798G>A (p.Thr2266=) c.6801G>A (p.Thr2267=) n.5064G>A c.8022G>A (p.Thr2674=) c.7401G>A (p.Thr2467=) c.8121G>A (p.Thr2707=) c.8619G>A (p.Thr2873=) c.6216G>A (p.Thr2072=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336479G>A	CA2187491	COL6A3	c.1266C>T c.8003C>T (p.Thr2668Met) c.748C>T n.888C>T c.8621C>T (p.Thr2874Met) c.6797C>T (p.Thr2266Met) c.6800C>T (p.Thr2267Met) n.5063C>T c.8021C>T (p.Thr2674Met) c.7400C>T (p.Thr2467Met) c.8120C>T (p.Thr2707Met) c.8618C>T (p.Thr2873Met) c.6215C>T (p.Thr2072Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336479G>C	CA351191970	COL6A3	c.1266C>G c.8003C>G (p.Thr2668Arg) c.748C>G n.888C>G c.8621C>G (p.Thr2874Arg) c.6797C>G (p.Thr2266Arg) c.6800C>G (p.Thr2267Arg) n.5063C>G c.8021C>G (p.Thr2674Arg) c.7400C>G (p.Thr2467Arg) c.8120C>G (p.Thr2707Arg) c.8618C>G (p.Thr2873Arg) c.6215C>G (p.Thr2072Arg)
2	g.237336479G=	CA1337607224	COL6A3	c.1266C= c.8003C= (p.Thr2668=) c.748C= n.888C= c.8621C= (p.Thr2874=) c.6797C= (p.Thr2266=) c.6800C= (p.Thr2267=) n.5063C= c.8021C= (p.Thr2674=) c.7400C= (p.Thr2467=) c.8120C= (p.Thr2707=) c.8618C= (p.Thr2873=) c.6215C= (p.Thr2072=)
2	g.237336479G>T	CA351191971	COL6A3	c.1266C>A c.8003C>A (p.Thr2668Lys) c.748C>A n.888C>A c.8621C>A (p.Thr2874Lys) c.6797C>A (p.Thr2266Lys) c.6800C>A (p.Thr2267Lys) n.5063C>A c.8021C>A (p.Thr2674Lys) c.7400C>A (p.Thr2467Lys) c.8120C>A (p.Thr2707Lys) c.8618C>A (p.Thr2873Lys) c.6215C>A (p.Thr2072Lys)
2	g.237336480T>A	CA351191974	COL6A3	c.1265A>T c.8002A>T (p.Thr2668Ser) c.747A>T n.887A>T c.8620A>T (p.Thr2874Ser) c.6796A>T (p.Thr2266Ser) c.6799A>T (p.Thr2267Ser) n.5062A>T c.8020A>T (p.Thr2674Ser) c.7399A>T (p.Thr2467Ser) c.8119A>T (p.Thr2707Ser) c.8617A>T (p.Thr2873Ser) c.6214A>T (p.Thr2072Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336480T>C	CA351191973	COL6A3	c.1265A>G c.8002A>G (p.Thr2668Ala) c.747A>G n.887A>G c.8620A>G (p.Thr2874Ala) c.6796A>G (p.Thr2266Ala) c.6799A>G (p.Thr2267Ala) n.5062A>G c.8020A>G (p.Thr2674Ala) c.7399A>G (p.Thr2467Ala) c.8119A>G (p.Thr2707Ala) c.8617A>G (p.Thr2873Ala) c.6214A>G (p.Thr2072Ala)
2	g.237336480T>G	CA351191972	COL6A3	c.1265A>C c.8002A>C (p.Thr2668Pro) c.747A>C n.887A>C c.8620A>C (p.Thr2874Pro) c.6796A>C (p.Thr2266Pro) c.6799A>C (p.Thr2267Pro) n.5062A>C c.8020A>C (p.Thr2674Pro) c.7399A>C (p.Thr2467Pro) c.8119A>C (p.Thr2707Pro) c.8617A>C (p.Thr2873Pro) c.6214A>C (p.Thr2072Pro)
2	g.237336480T=	CA1337607225	COL6A3	c.1265A= c.8002A= (p.Thr2668=) c.747A= n.887A= c.8620A= (p.Thr2874=) c.6796A= (p.Thr2266=) c.6799A= (p.Thr2267=) n.5062A= c.8020A= (p.Thr2674=) c.7399A= (p.Thr2467=) c.8119A= (p.Thr2707=) c.8617A= (p.Thr2873=) c.6214A= (p.Thr2072=)
2	g.237336481T>A	CA431674907	COL6A3	c.1264A>T c.8001A>T (p.Thr2667=) c.746A>T n.886A>T c.8619A>T (p.Thr2873=) c.6795A>T (p.Thr2265=) c.6798A>T (p.Thr2266=) n.5061A>T c.8019A>T (p.Thr2673=) c.7398A>T (p.Thr2466=) c.8118A>T (p.Thr2706=) c.8616A>T (p.Thr2872=) c.6213A>T (p.Thr2071=)
2	g.237336481T>C	CA431674908	COL6A3	c.1264A>G c.8001A>G (p.Thr2667=) c.746A>G n.886A>G c.8619A>G (p.Thr2873=) c.6795A>G (p.Thr2265=) c.6798A>G (p.Thr2266=) n.5061A>G c.8019A>G (p.Thr2673=) c.7398A>G (p.Thr2466=) c.8118A>G (p.Thr2706=) c.8616A>G (p.Thr2872=) c.6213A>G (p.Thr2071=)
2	g.237336481T>G	CA431674909	COL6A3	c.1264A>C c.8001A>C (p.Thr2667=) c.746A>C n.886A>C c.8619A>C (p.Thr2873=) c.6795A>C (p.Thr2265=) c.6798A>C (p.Thr2266=) n.5061A>C c.8019A>C (p.Thr2673=) c.7398A>C (p.Thr2466=) c.8118A>C (p.Thr2706=) c.8616A>C (p.Thr2872=) c.6213A>C (p.Thr2071=)
2	g.237336482G>A	CA351191975	COL6A3	c.1263C>T c.8000C>T (p.Thr2667Ile) c.745C>T n.885C>T c.8618C>T (p.Thr2873Ile) c.6794C>T (p.Thr2265Ile) c.6797C>T (p.Thr2266Ile) n.5060C>T c.8018C>T (p.Thr2673Ile) c.7397C>T (p.Thr2466Ile) c.8117C>T (p.Thr2706Ile) c.8615C>T (p.Thr2872Ile) c.6212C>T (p.Thr2071Ile)
2	g.237336482G>C	CA351191976	COL6A3	c.1263C>G c.8000C>G (p.Thr2667Arg) c.745C>G n.885C>G c.8618C>G (p.Thr2873Arg) c.6794C>G (p.Thr2265Arg) c.6797C>G (p.Thr2266Arg) n.5060C>G c.8018C>G (p.Thr2673Arg) c.7397C>G (p.Thr2466Arg) c.8117C>G (p.Thr2706Arg) c.8615C>G (p.Thr2872Arg) c.6212C>G (p.Thr2071Arg)
2	g.237336482G>T	CA351191977	COL6A3	c.1263C>A c.8000C>A (p.Thr2667Lys) c.745C>A n.885C>A c.8618C>A (p.Thr2873Lys) c.6794C>A (p.Thr2265Lys) c.6797C>A (p.Thr2266Lys) n.5060C>A c.8018C>A (p.Thr2673Lys) c.7397C>A (p.Thr2466Lys) c.8117C>A (p.Thr2706Lys) c.8615C>A (p.Thr2872Lys) c.6212C>A (p.Thr2071Lys)
2	g.237336483T>A	CA351191978	COL6A3	c.1262A>T c.7999A>T (p.Thr2667Ser) c.744A>T n.884A>T c.8617A>T (p.Thr2873Ser) c.6793A>T (p.Thr2265Ser) c.6796A>T (p.Thr2266Ser) n.5059A>T c.8017A>T (p.Thr2673Ser) c.7396A>T (p.Thr2466Ser) c.8116A>T (p.Thr2706Ser) c.8614A>T (p.Thr2872Ser) c.6211A>T (p.Thr2071Ser)
2	g.237336483T>C	CA351191979	COL6A3	c.1262A>G c.7999A>G (p.Thr2667Ala) c.744A>G n.884A>G c.8617A>G (p.Thr2873Ala) c.6793A>G (p.Thr2265Ala) c.6796A>G (p.Thr2266Ala) n.5059A>G c.8017A>G (p.Thr2673Ala) c.7396A>G (p.Thr2466Ala) c.8116A>G (p.Thr2706Ala) c.8614A>G (p.Thr2872Ala) c.6211A>G (p.Thr2071Ala)	gnomAD v4
2	g.237336483T>G	CA351191980	COL6A3	c.1262A>C c.7999A>C (p.Thr2667Pro) c.744A>C n.884A>C c.8617A>C (p.Thr2873Pro) c.6793A>C (p.Thr2265Pro) c.6796A>C (p.Thr2266Pro) n.5059A>C c.8017A>C (p.Thr2673Pro) c.7396A>C (p.Thr2466Pro) c.8116A>C (p.Thr2706Pro) c.8614A>C (p.Thr2872Pro) c.6211A>C (p.Thr2071Pro)
2	g.237336484C>A	CA431674910	COL6A3	c.1261G>T c.7998G>T (p.Thr2666=) c.743G>T n.883G>T c.8616G>T (p.Thr2872=) c.6792G>T (p.Thr2264=) c.6795G>T (p.Thr2265=) n.5058G>T c.8016G>T (p.Thr2672=) c.7395G>T (p.Thr2465=) c.8115G>T (p.Thr2705=) c.8613G>T (p.Thr2871=) c.6210G>T (p.Thr2070=)	COSMIC
2	g.237336484C=	CA1337607226	COL6A3	c.1261G= c.7998G= (p.Thr2666=) c.743G= n.883G= c.8616G= (p.Thr2872=) c.6792G= (p.Thr2264=) c.6795G= (p.Thr2265=) n.5058G= c.8016G= (p.Thr2672=) c.7395G= (p.Thr2465=) c.8115G= (p.Thr2705=) c.8613G= (p.Thr2871=) c.6210G= (p.Thr2070=)
2	g.237336484C>G	CA431674911	COL6A3	c.1261G>C c.7998G>C (p.Thr2666=) c.743G>C n.883G>C c.8616G>C (p.Thr2872=) c.6792G>C (p.Thr2264=) c.6795G>C (p.Thr2265=) n.5058G>C c.8016G>C (p.Thr2672=) c.7395G>C (p.Thr2465=) c.8115G>C (p.Thr2705=) c.8613G>C (p.Thr2871=) c.6210G>C (p.Thr2070=)
2	g.237336484C>T	CA431674912	COL6A3	c.1261G>A c.7998G>A (p.Thr2666=) c.743G>A n.883G>A c.8616G>A (p.Thr2872=) c.6792G>A (p.Thr2264=) c.6795G>A (p.Thr2265=) n.5058G>A c.8016G>A (p.Thr2672=) c.7395G>A (p.Thr2465=) c.8115G>A (p.Thr2705=) c.8613G>A (p.Thr2871=) c.6210G>A (p.Thr2070=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.237336485G>A	CA2187492	COL6A3	c.1260C>T c.7997C>T (p.Thr2666Met) c.742C>T n.882C>T c.8615C>T (p.Thr2872Met) c.6791C>T (p.Thr2264Met) c.6794C>T (p.Thr2265Met) n.5057C>T c.8015C>T (p.Thr2672Met) c.7394C>T (p.Thr2465Met) c.8114C>T (p.Thr2705Met) c.8612C>T (p.Thr2871Met) c.6209C>T (p.Thr2070Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336485G>C	CA351191981	COL6A3	c.1260C>G c.7997C>G (p.Thr2666Arg) c.742C>G n.882C>G c.8615C>G (p.Thr2872Arg) c.6791C>G (p.Thr2264Arg) c.6794C>G (p.Thr2265Arg) n.5057C>G c.8015C>G (p.Thr2672Arg) c.7394C>G (p.Thr2465Arg) c.8114C>G (p.Thr2705Arg) c.8612C>G (p.Thr2871Arg) c.6209C>G (p.Thr2070Arg)
2	g.237336485G=	CA1337607227	COL6A3	c.1260C= c.7997C= (p.Thr2666=) c.742C= n.882C= c.8615C= (p.Thr2872=) c.6791C= (p.Thr2264=) c.6794C= (p.Thr2265=) n.5057C= c.8015C= (p.Thr2672=) c.7394C= (p.Thr2465=) c.8114C= (p.Thr2705=) c.8612C= (p.Thr2871=) c.6209C= (p.Thr2070=)
2	g.237336485G>T	CA67830757	COL6A3	c.1260C>A c.7997C>A (p.Thr2666Lys) c.742C>A n.882C>A c.8615C>A (p.Thr2872Lys) c.6791C>A (p.Thr2264Lys) c.6794C>A (p.Thr2265Lys) n.5057C>A c.8015C>A (p.Thr2672Lys) c.7394C>A (p.Thr2465Lys) c.8114C>A (p.Thr2705Lys) c.8612C>A (p.Thr2871Lys) c.6209C>A (p.Thr2070Lys)	dbSNP
2	g.237336486T>A	CA351191982	COL6A3	c.1259A>T c.7996A>T (p.Thr2666Ser) c.741A>T n.881A>T c.8614A>T (p.Thr2872Ser) c.6790A>T (p.Thr2264Ser) c.6793A>T (p.Thr2265Ser) n.5056A>T c.8014A>T (p.Thr2672Ser) c.7393A>T (p.Thr2465Ser) c.8113A>T (p.Thr2705Ser) c.8611A>T (p.Thr2871Ser) c.6208A>T (p.Thr2070Ser)
2	g.237336486T>C	CA351191983	COL6A3	c.1259A>G c.7996A>G (p.Thr2666Ala) c.741A>G n.881A>G c.8614A>G (p.Thr2872Ala) c.6790A>G (p.Thr2264Ala) c.6793A>G (p.Thr2265Ala) n.5056A>G c.8014A>G (p.Thr2672Ala) c.7393A>G (p.Thr2465Ala) c.8113A>G (p.Thr2705Ala) c.8611A>G (p.Thr2871Ala) c.6208A>G (p.Thr2070Ala)
2	g.237336486T>G	CA351191984	COL6A3	c.1259A>C c.7996A>C (p.Thr2666Pro) c.741A>C n.881A>C c.8614A>C (p.Thr2872Pro) c.6790A>C (p.Thr2264Pro) c.6793A>C (p.Thr2265Pro) n.5056A>C c.8014A>C (p.Thr2672Pro) c.7393A>C (p.Thr2465Pro) c.8113A>C (p.Thr2705Pro) c.8611A>C (p.Thr2871Pro) c.6208A>C (p.Thr2070Pro)
2	g.237336487C>A	CA431674913	COL6A3	c.1258G>T c.7995G>T (p.Val2665=) c.740G>T n.880G>T c.8613G>T (p.Val2871=) c.6789G>T (p.Val2263=) c.6792G>T (p.Val2264=) n.5055G>T c.8013G>T (p.Val2671=) c.7392G>T (p.Val2464=) c.8112G>T (p.Val2704=) c.8610G>T (p.Val2870=) c.6207G>T (p.Val2069=)
2	g.237336487C>G	CA431674914	COL6A3	c.1258G>C c.7995G>C (p.Val2665=) c.740G>C n.880G>C c.8613G>C (p.Val2871=) c.6789G>C (p.Val2263=) c.6792G>C (p.Val2264=) n.5055G>C c.8013G>C (p.Val2671=) c.7392G>C (p.Val2464=) c.8112G>C (p.Val2704=) c.8610G>C (p.Val2870=) c.6207G>C (p.Val2069=)
2	g.237336487C>T	CA431674915	COL6A3	c.1258G>A c.7995G>A (p.Val2665=) c.740G>A n.880G>A c.8613G>A (p.Val2871=) c.6789G>A (p.Val2263=) c.6792G>A (p.Val2264=) n.5055G>A c.8013G>A (p.Val2671=) c.7392G>A (p.Val2464=) c.8112G>A (p.Val2704=) c.8610G>A (p.Val2870=) c.6207G>A (p.Val2069=)
2	g.237336488A=	CA1337607228	COL6A3	c.1257T= c.7994T= (p.Val2665=) c.739T= n.879T= c.8612T= (p.Val2871=) c.6788T= (p.Val2263=) c.6791T= (p.Val2264=) n.5054T= c.8012T= (p.Val2671=) c.7391T= (p.Val2464=) c.8111T= (p.Val2704=) c.8609T= (p.Val2870=) c.6206T= (p.Val2069=)
2	g.237336488A>C	CA351191986	COL6A3	c.1257T>G c.7994T>G (p.Val2665Gly) c.739T>G n.879T>G c.8612T>G (p.Val2871Gly) c.6788T>G (p.Val2263Gly) c.6791T>G (p.Val2264Gly) n.5054T>G c.8012T>G (p.Val2671Gly) c.7391T>G (p.Val2464Gly) c.8111T>G (p.Val2704Gly) c.8609T>G (p.Val2870Gly) c.6206T>G (p.Val2069Gly)
2	g.237336488A>G	CA67830758	COL6A3	c.1257T>C c.7994T>C (p.Val2665Ala) c.739T>C n.879T>C c.8612T>C (p.Val2871Ala) c.6788T>C (p.Val2263Ala) c.6791T>C (p.Val2264Ala) n.5054T>C c.8012T>C (p.Val2671Ala) c.7391T>C (p.Val2464Ala) c.8111T>C (p.Val2704Ala) c.8609T>C (p.Val2870Ala) c.6206T>C (p.Val2069Ala)	dbSNP
2	g.237336488A>T	CA351191985	COL6A3	c.1257T>A c.7994T>A (p.Val2665Glu) c.739T>A n.879T>A c.8612T>A (p.Val2871Glu) c.6788T>A (p.Val2263Glu) c.6791T>A (p.Val2264Glu) n.5054T>A c.8012T>A (p.Val2671Glu) c.7391T>A (p.Val2464Glu) c.8111T>A (p.Val2704Glu) c.8609T>A (p.Val2870Glu) c.6206T>A (p.Val2069Glu)
2	g.237336489C>A	CA351191987	COL6A3	c.1256G>T c.7993G>T (p.Val2665Leu) c.738G>T n.878G>T c.8611G>T (p.Val2871Leu) c.6787G>T (p.Val2263Leu) c.6790G>T (p.Val2264Leu) n.5053G>T c.8011G>T (p.Val2671Leu) c.7390G>T (p.Val2464Leu) c.8110G>T (p.Val2704Leu) c.8608G>T (p.Val2870Leu) c.6205G>T (p.Val2069Leu)
2	g.237336489C>G	CA351191988	COL6A3	c.1256G>C c.7993G>C (p.Val2665Leu) c.738G>C n.878G>C c.8611G>C (p.Val2871Leu) c.6787G>C (p.Val2263Leu) c.6790G>C (p.Val2264Leu) n.5053G>C c.8011G>C (p.Val2671Leu) c.7390G>C (p.Val2464Leu) c.8110G>C (p.Val2704Leu) c.8608G>C (p.Val2870Leu) c.6205G>C (p.Val2069Leu)
2	g.237336489C>T	CA351191989	COL6A3	c.1256G>A c.7993G>A (p.Val2665Met) c.738G>A n.878G>A c.8611G>A (p.Val2871Met) c.6787G>A (p.Val2263Met) c.6790G>A (p.Val2264Met) n.5053G>A c.8011G>A (p.Val2671Met) c.7390G>A (p.Val2464Met) c.8110G>A (p.Val2704Met) c.8608G>A (p.Val2870Met) c.6205G>A (p.Val2069Met)	ClinVar
2	g.237336490T>A	CA431674916	COL6A3	c.1255A>T c.7992A>T (p.Pro2664=) c.737A>T n.877A>T c.8610A>T (p.Pro2870=) c.6786A>T (p.Pro2262=) c.6789A>T (p.Pro2263=) n.5052A>T c.8010A>T (p.Pro2670=) c.7389A>T (p.Pro2463=) c.8109A>T (p.Pro2703=) c.8607A>T (p.Pro2869=) c.6204A>T (p.Pro2068=)	gnomAD v4
2	g.237336490T>C	CA431674917	COL6A3	c.1255A>G c.7992A>G (p.Pro2664=) c.737A>G n.877A>G c.8610A>G (p.Pro2870=) c.6786A>G (p.Pro2262=) c.6789A>G (p.Pro2263=) n.5052A>G c.8010A>G (p.Pro2670=) c.7389A>G (p.Pro2463=) c.8109A>G (p.Pro2703=) c.8607A>G (p.Pro2869=) c.6204A>G (p.Pro2068=)
2	g.237336490T>G	CA431674918	COL6A3	c.1255A>C c.7992A>C (p.Pro2664=) c.737A>C n.877A>C c.8610A>C (p.Pro2870=) c.6786A>C (p.Pro2262=) c.6789A>C (p.Pro2263=) n.5052A>C c.8010A>C (p.Pro2670=) c.7389A>C (p.Pro2463=) c.8109A>C (p.Pro2703=) c.8607A>C (p.Pro2869=) c.6204A>C (p.Pro2068=)
2	g.237336491G>A	CA351191990	COL6A3	c.1254C>T c.7991C>T (p.Pro2664Leu) c.736C>T n.876C>T c.8609C>T (p.Pro2870Leu) c.6785C>T (p.Pro2262Leu) c.6788C>T (p.Pro2263Leu) n.5051C>T c.8009C>T (p.Pro2670Leu) c.7388C>T (p.Pro2463Leu) c.8108C>T (p.Pro2703Leu) c.8606C>T (p.Pro2869Leu) c.6203C>T (p.Pro2068Leu)
2	g.237336491G>C	CA351191991	COL6A3	c.1254C>G c.7991C>G (p.Pro2664Arg) c.736C>G n.876C>G c.8609C>G (p.Pro2870Arg) c.6785C>G (p.Pro2262Arg) c.6788C>G (p.Pro2263Arg) n.5051C>G c.8009C>G (p.Pro2670Arg) c.7388C>G (p.Pro2463Arg) c.8108C>G (p.Pro2703Arg) c.8606C>G (p.Pro2869Arg) c.6203C>G (p.Pro2068Arg)
2	g.237336491G>T	CA351191992	COL6A3	c.1254C>A c.7991C>A (p.Pro2664Gln) c.736C>A n.876C>A c.8609C>A (p.Pro2870Gln) c.6785C>A (p.Pro2262Gln) c.6788C>A (p.Pro2263Gln) n.5051C>A c.8009C>A (p.Pro2670Gln) c.7388C>A (p.Pro2463Gln) c.8108C>A (p.Pro2703Gln) c.8606C>A (p.Pro2869Gln) c.6203C>A (p.Pro2068Gln)
2	g.237336492G>A	CA351191995	COL6A3	c.1253C>T c.7990C>T (p.Pro2664Ser) c.735C>T n.875C>T c.8608C>T (p.Pro2870Ser) c.6784C>T (p.Pro2262Ser) c.6787C>T (p.Pro2263Ser) n.5050C>T c.8008C>T (p.Pro2670Ser) c.7387C>T (p.Pro2463Ser) c.8107C>T (p.Pro2703Ser) c.8605C>T (p.Pro2869Ser) c.6202C>T (p.Pro2068Ser)	gnomAD v4
2	g.237336492G>C	CA351191993	COL6A3	c.1253C>G c.7990C>G (p.Pro2664Ala) c.735C>G n.875C>G c.8608C>G (p.Pro2870Ala) c.6784C>G (p.Pro2262Ala) c.6787C>G (p.Pro2263Ala) n.5050C>G c.8008C>G (p.Pro2670Ala) c.7387C>G (p.Pro2463Ala) c.8107C>G (p.Pro2703Ala) c.8605C>G (p.Pro2869Ala) c.6202C>G (p.Pro2068Ala)	dbSNP
2	g.237336492G=	CA1337607229	COL6A3	c.1253C= c.7990C= (p.Pro2664=) c.735C= n.875C= c.8608C= (p.Pro2870=) c.6784C= (p.Pro2262=) c.6787C= (p.Pro2263=) n.5050C= c.8008C= (p.Pro2670=) c.7387C= (p.Pro2463=) c.8107C= (p.Pro2703=) c.8605C= (p.Pro2869=) c.6202C= (p.Pro2068=)
2	g.237336492G>T	CA351191994	COL6A3	c.1253C>A c.7990C>A (p.Pro2664Thr) c.735C>A n.875C>A c.8608C>A (p.Pro2870Thr) c.6784C>A (p.Pro2262Thr) c.6787C>A (p.Pro2263Thr) n.5050C>A c.8008C>A (p.Pro2670Thr) c.7387C>A (p.Pro2463Thr) c.8107C>A (p.Pro2703Thr) c.8605C>A (p.Pro2869Thr) c.6202C>A (p.Pro2068Thr)
2	g.237336493G>A	CA431674919	COL6A3	c.1252C>T c.7989C>T (p.Asn2663=) c.734C>T n.874C>T c.8607C>T (p.Asn2869=) c.6783C>T (p.Asn2261=) c.6786C>T (p.Asn2262=) n.5049C>T c.8007C>T (p.Asn2669=) c.7386C>T (p.Asn2462=) c.8106C>T (p.Asn2702=) c.8604C>T (p.Asn2868=) c.6201C>T (p.Asn2067=)
2	g.237336493G>C	CA351191996	COL6A3	c.1252C>G c.7989C>G (p.Asn2663Lys) c.734C>G n.874C>G c.8607C>G (p.Asn2869Lys) c.6783C>G (p.Asn2261Lys) c.6786C>G (p.Asn2262Lys) n.5049C>G c.8007C>G (p.Asn2669Lys) c.7386C>G (p.Asn2462Lys) c.8106C>G (p.Asn2702Lys) c.8604C>G (p.Asn2868Lys) c.6201C>G (p.Asn2067Lys)
2	g.237336493G>T	CA351191997	COL6A3	c.1252C>A c.7989C>A (p.Asn2663Lys) c.734C>A n.874C>A c.8607C>A (p.Asn2869Lys) c.6783C>A (p.Asn2261Lys) c.6786C>A (p.Asn2262Lys) n.5049C>A c.8007C>A (p.Asn2669Lys) c.7386C>A (p.Asn2462Lys) c.8106C>A (p.Asn2702Lys) c.8604C>A (p.Asn2868Lys) c.6201C>A (p.Asn2067Lys)	COSMIC
2	g.237336494T>A	CA351191998	COL6A3	c.1251A>T c.7988A>T (p.Asn2663Ile) c.733A>T n.873A>T c.8606A>T (p.Asn2869Ile) c.6782A>T (p.Asn2261Ile) c.6785A>T (p.Asn2262Ile) n.5048A>T c.8006A>T (p.Asn2669Ile) c.7385A>T (p.Asn2462Ile) c.8105A>T (p.Asn2702Ile) c.8603A>T (p.Asn2868Ile) c.6200A>T (p.Asn2067Ile)
2	g.237336494T>C	CA351191999	COL6A3	c.1251A>G c.7988A>G (p.Asn2663Ser) c.733A>G n.873A>G c.8606A>G (p.Asn2869Ser) c.6782A>G (p.Asn2261Ser) c.6785A>G (p.Asn2262Ser) n.5048A>G c.8006A>G (p.Asn2669Ser) c.7385A>G (p.Asn2462Ser) c.8105A>G (p.Asn2702Ser) c.8603A>G (p.Asn2868Ser) c.6200A>G (p.Asn2067Ser)
2	g.237336494T>G	CA351192000	COL6A3	c.1251A>C c.7988A>C (p.Asn2663Thr) c.733A>C n.873A>C c.8606A>C (p.Asn2869Thr) c.6782A>C (p.Asn2261Thr) c.6785A>C (p.Asn2262Thr) n.5048A>C c.8006A>C (p.Asn2669Thr) c.7385A>C (p.Asn2462Thr) c.8105A>C (p.Asn2702Thr) c.8603A>C (p.Asn2868Thr) c.6200A>C (p.Asn2067Thr)
2	g.237336495T>A	CA351192001	COL6A3	c.1250A>T c.7987A>T (p.Asn2663Tyr) c.732A>T n.872A>T c.8605A>T (p.Asn2869Tyr) c.6781A>T (p.Asn2261Tyr) c.6784A>T (p.Asn2262Tyr) n.5047A>T c.8005A>T (p.Asn2669Tyr) c.7384A>T (p.Asn2462Tyr) c.8104A>T (p.Asn2702Tyr) c.8602A>T (p.Asn2868Tyr) c.6199A>T (p.Asn2067Tyr)
2	g.237336495T>C	CA351192003	COL6A3	c.1250A>G c.7987A>G (p.Asn2663Asp) c.732A>G n.872A>G c.8605A>G (p.Asn2869Asp) c.6781A>G (p.Asn2261Asp) c.6784A>G (p.Asn2262Asp) n.5047A>G c.8005A>G (p.Asn2669Asp) c.7384A>G (p.Asn2462Asp) c.8104A>G (p.Asn2702Asp) c.8602A>G (p.Asn2868Asp) c.6199A>G (p.Asn2067Asp)	gnomAD v4
2	g.237336495T>G	CA351192002	COL6A3	c.1250A>C c.7987A>C (p.Asn2663His) c.732A>C n.872A>C c.8605A>C (p.Asn2869His) c.6781A>C (p.Asn2261His) c.6784A>C (p.Asn2262His) n.5047A>C c.8005A>C (p.Asn2669His) c.7384A>C (p.Asn2462His) c.8104A>C (p.Asn2702His) c.8602A>C (p.Asn2868His) c.6199A>C (p.Asn2067His)
2	g.237336496G>A	CA431674920	COL6A3	c.1249C>T c.7986C>T (p.Ser2662=) c.731C>T n.871C>T c.8604C>T (p.Ser2868=) c.6780C>T (p.Ser2260=) c.6783C>T (p.Ser2261=) n.5046C>T c.8004C>T (p.Ser2668=) c.7383C>T (p.Ser2461=) c.8103C>T (p.Ser2701=) c.8601C>T (p.Ser2867=) c.6198C>T (p.Ser2066=)	ClinVar
2	g.237336496G>C	CA431674921	COL6A3	c.1249C>G c.7986C>G (p.Ser2662=) c.731C>G n.871C>G c.8604C>G (p.Ser2868=) c.6780C>G (p.Ser2260=) c.6783C>G (p.Ser2261=) n.5046C>G c.8004C>G (p.Ser2668=) c.7383C>G (p.Ser2461=) c.8103C>G (p.Ser2701=) c.8601C>G (p.Ser2867=) c.6198C>G (p.Ser2066=)
2	g.237336496G>T	CA431674922	COL6A3	c.1249C>A c.7986C>A (p.Ser2662=) c.731C>A n.871C>A c.8604C>A (p.Ser2868=) c.6780C>A (p.Ser2260=) c.6783C>A (p.Ser2261=) n.5046C>A c.8004C>A (p.Ser2668=) c.7383C>A (p.Ser2461=) c.8103C>A (p.Ser2701=) c.8601C>A (p.Ser2867=) c.6198C>A (p.Ser2066=)
2	g.237336497G>A	CA351192004	COL6A3	c.1248C>T c.7985C>T (p.Ser2662Phe) c.730C>T n.870C>T c.8603C>T (p.Ser2868Phe) c.6779C>T (p.Ser2260Phe) c.6782C>T (p.Ser2261Phe) n.5045C>T c.8003C>T (p.Ser2668Phe) c.7382C>T (p.Ser2461Phe) c.8102C>T (p.Ser2701Phe) c.8600C>T (p.Ser2867Phe) c.6197C>T (p.Ser2066Phe)
2	g.237336497G>C	CA351192005	COL6A3	c.1248C>G c.7985C>G (p.Ser2662Cys) c.730C>G n.870C>G c.8603C>G (p.Ser2868Cys) c.6779C>G (p.Ser2260Cys) c.6782C>G (p.Ser2261Cys) n.5045C>G c.8003C>G (p.Ser2668Cys) c.7382C>G (p.Ser2461Cys) c.8102C>G (p.Ser2701Cys) c.8600C>G (p.Ser2867Cys) c.6197C>G (p.Ser2066Cys)
2	g.237336497G>T	CA351192006	COL6A3	c.1248C>A c.7985C>A (p.Ser2662Tyr) c.730C>A n.870C>A c.8603C>A (p.Ser2868Tyr) c.6779C>A (p.Ser2260Tyr) c.6782C>A (p.Ser2261Tyr) n.5045C>A c.8003C>A (p.Ser2668Tyr) c.7382C>A (p.Ser2461Tyr) c.8102C>A (p.Ser2701Tyr) c.8600C>A (p.Ser2867Tyr) c.6197C>A (p.Ser2066Tyr)
2	g.237336498A>C	CA351192007	COL6A3	c.1247T>G c.7984T>G (p.Ser2662Ala) c.729T>G n.869T>G c.8602T>G (p.Ser2868Ala) c.6778T>G (p.Ser2260Ala) c.6781T>G (p.Ser2261Ala) n.5044T>G c.8002T>G (p.Ser2668Ala) c.7381T>G (p.Ser2461Ala) c.8101T>G (p.Ser2701Ala) c.8599T>G (p.Ser2867Ala) c.6196T>G (p.Ser2066Ala)
2	g.237336498A>G	CA351192008	COL6A3	c.1247T>C c.7984T>C (p.Ser2662Pro) c.729T>C n.869T>C c.8602T>C (p.Ser2868Pro) c.6778T>C (p.Ser2260Pro) c.6781T>C (p.Ser2261Pro) n.5044T>C c.8002T>C (p.Ser2668Pro) c.7381T>C (p.Ser2461Pro) c.8101T>C (p.Ser2701Pro) c.8599T>C (p.Ser2867Pro) c.6196T>C (p.Ser2066Pro)
2	g.237336498A>T	CA351192009	COL6A3	c.1247T>A c.7984T>A (p.Ser2662Thr) c.729T>A n.869T>A c.8602T>A (p.Ser2868Thr) c.6778T>A (p.Ser2260Thr) c.6781T>A (p.Ser2261Thr) n.5044T>A c.8002T>A (p.Ser2668Thr) c.7381T>A (p.Ser2461Thr) c.8101T>A (p.Ser2701Thr) c.8599T>A (p.Ser2867Thr) c.6196T>A (p.Ser2066Thr)
2	g.237336499T>A	CA431674923	COL6A3	c.1246A>T c.7983A>T (p.Thr2661=) c.728A>T n.868A>T c.8601A>T (p.Thr2867=) c.6777A>T (p.Thr2259=) c.6780A>T (p.Thr2260=) n.5043A>T c.8001A>T (p.Thr2667=) c.7380A>T (p.Thr2460=) c.8100A>T (p.Thr2700=) c.8598A>T (p.Thr2866=) c.6195A>T (p.Thr2065=)
2	g.237336499T>C	CA431674924	COL6A3	c.1246A>G c.7983A>G (p.Thr2661=) c.728A>G n.868A>G c.8601A>G (p.Thr2867=) c.6777A>G (p.Thr2259=) c.6780A>G (p.Thr2260=) n.5043A>G c.8001A>G (p.Thr2667=) c.7380A>G (p.Thr2460=) c.8100A>G (p.Thr2700=) c.8598A>G (p.Thr2866=) c.6195A>G (p.Thr2065=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336499T>G	CA431674925	COL6A3	c.1246A>C c.7983A>C (p.Thr2661=) c.728A>C n.868A>C c.8601A>C (p.Thr2867=) c.6777A>C (p.Thr2259=) c.6780A>C (p.Thr2260=) n.5043A>C c.8001A>C (p.Thr2667=) c.7380A>C (p.Thr2460=) c.8100A>C (p.Thr2700=) c.8598A>C (p.Thr2866=) c.6195A>C (p.Thr2065=)
2	g.237336499T=	CA1337607230	COL6A3	c.1246A= c.7983A= (p.Thr2661=) c.728A= n.868A= c.8601A= (p.Thr2867=) c.6777A= (p.Thr2259=) c.6780A= (p.Thr2260=) n.5043A= c.8001A= (p.Thr2667=) c.7380A= (p.Thr2460=) c.8100A= (p.Thr2700=) c.8598A= (p.Thr2866=) c.6195A= (p.Thr2065=)
2	g.237336500G>A	CA351192010	COL6A3	c.1245C>T c.7982C>T (p.Thr2661Ile) c.727C>T n.867C>T c.8600C>T (p.Thr2867Ile) c.6776C>T (p.Thr2259Ile) c.6779C>T (p.Thr2260Ile) n.5042C>T c.8000C>T (p.Thr2667Ile) c.7379C>T (p.Thr2460Ile) c.8099C>T (p.Thr2700Ile) c.8597C>T (p.Thr2866Ile) c.6194C>T (p.Thr2065Ile)
2	g.237336500G>C	CA351192011	COL6A3	c.1245C>G c.7982C>G (p.Thr2661Arg) c.727C>G n.867C>G c.8600C>G (p.Thr2867Arg) c.6776C>G (p.Thr2259Arg) c.6779C>G (p.Thr2260Arg) n.5042C>G c.8000C>G (p.Thr2667Arg) c.7379C>G (p.Thr2460Arg) c.8099C>G (p.Thr2700Arg) c.8597C>G (p.Thr2866Arg) c.6194C>G (p.Thr2065Arg)
2	g.237336500G>T	CA351192012	COL6A3	c.1245C>A c.7982C>A (p.Thr2661Lys) c.727C>A n.867C>A c.8600C>A (p.Thr2867Lys) c.6776C>A (p.Thr2259Lys) c.6779C>A (p.Thr2260Lys) n.5042C>A c.8000C>A (p.Thr2667Lys) c.7379C>A (p.Thr2460Lys) c.8099C>A (p.Thr2700Lys) c.8597C>A (p.Thr2866Lys) c.6194C>A (p.Thr2065Lys)
2	g.237336501T>A	CA351192013	COL6A3	c.1244A>T c.7981A>T (p.Thr2661Ser) c.726A>T n.866A>T c.8599A>T (p.Thr2867Ser) c.6775A>T (p.Thr2259Ser) c.6778A>T (p.Thr2260Ser) n.5041A>T c.7999A>T (p.Thr2667Ser) c.7378A>T (p.Thr2460Ser) c.8098A>T (p.Thr2700Ser) c.8596A>T (p.Thr2866Ser) c.6193A>T (p.Thr2065Ser)
2	g.237336501T>C	CA67830761	COL6A3	c.1244A>G c.7981A>G (p.Thr2661Ala) c.726A>G n.866A>G c.8599A>G (p.Thr2867Ala) c.6775A>G (p.Thr2259Ala) c.6778A>G (p.Thr2260Ala) n.5041A>G c.7999A>G (p.Thr2667Ala) c.7378A>G (p.Thr2460Ala) c.8098A>G (p.Thr2700Ala) c.8596A>G (p.Thr2866Ala) c.6193A>G (p.Thr2065Ala)	dbSNP
2	g.237336501T>G	CA351192014	COL6A3	c.1244A>C c.7981A>C (p.Thr2661Pro) c.726A>C n.866A>C c.8599A>C (p.Thr2867Pro) c.6775A>C (p.Thr2259Pro) c.6778A>C (p.Thr2260Pro) n.5041A>C c.7999A>C (p.Thr2667Pro) c.7378A>C (p.Thr2460Pro) c.8098A>C (p.Thr2700Pro) c.8596A>C (p.Thr2866Pro) c.6193A>C (p.Thr2065Pro)
2	g.237336501T=	CA1337607231	COL6A3	c.1244A= c.7981A= (p.Thr2661=) c.726A= n.866A= c.8599A= (p.Thr2867=) c.6775A= (p.Thr2259=) c.6778A= (p.Thr2260=) n.5041A= c.7999A= (p.Thr2667=) c.7378A= (p.Thr2460=) c.8098A= (p.Thr2700=) c.8596A= (p.Thr2866=) c.6193A= (p.Thr2065=)
2	g.237336502A=	CA1337607232	COL6A3	c.1243T= c.7980T= (p.Pro2660=) c.725T= n.865T= c.8598T= (p.Pro2866=) c.6774T= (p.Pro2258=) c.6777T= (p.Pro2259=) n.5040T= c.7998T= (p.Pro2666=) c.7377T= (p.Pro2459=) c.8097T= (p.Pro2699=) c.8595T= (p.Pro2865=) c.6192T= (p.Pro2064=)
2	g.237336502A>C	CA431674926	COL6A3	c.1243T>G c.7980T>G (p.Pro2660=) c.725T>G n.865T>G c.8598T>G (p.Pro2866=) c.6774T>G (p.Pro2258=) c.6777T>G (p.Pro2259=) n.5040T>G c.7998T>G (p.Pro2666=) c.7377T>G (p.Pro2459=) c.8097T>G (p.Pro2699=) c.8595T>G (p.Pro2865=) c.6192T>G (p.Pro2064=)
2	g.237336502A>G	CA431674927	COL6A3	c.1243T>C c.7980T>C (p.Pro2660=) c.725T>C n.865T>C c.8598T>C (p.Pro2866=) c.6774T>C (p.Pro2258=) c.6777T>C (p.Pro2259=) n.5040T>C c.7998T>C (p.Pro2666=) c.7377T>C (p.Pro2459=) c.8097T>C (p.Pro2699=) c.8595T>C (p.Pro2865=) c.6192T>C (p.Pro2064=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237336502A>T	CA431674928	COL6A3	c.1243T>A c.7980T>A (p.Pro2660=) c.725T>A n.865T>A c.8598T>A (p.Pro2866=) c.6774T>A (p.Pro2258=) c.6777T>A (p.Pro2259=) n.5040T>A c.7998T>A (p.Pro2666=) c.7377T>A (p.Pro2459=) c.8097T>A (p.Pro2699=) c.8595T>A (p.Pro2865=) c.6192T>A (p.Pro2064=)
2	g.237336503G>A	CA351192016	COL6A3	c.1242C>T c.7979C>T (p.Pro2660Leu) c.724C>T n.864C>T c.8597C>T (p.Pro2866Leu) c.6773C>T (p.Pro2258Leu) c.6776C>T (p.Pro2259Leu) n.5039C>T c.7997C>T (p.Pro2666Leu) c.7376C>T (p.Pro2459Leu) c.8096C>T (p.Pro2699Leu) c.8594C>T (p.Pro2865Leu) c.6191C>T (p.Pro2064Leu)
2	g.237336503G>C	CA351192017	COL6A3	c.1242C>G c.7979C>G (p.Pro2660Arg) c.724C>G n.864C>G c.8597C>G (p.Pro2866Arg) c.6773C>G (p.Pro2258Arg) c.6776C>G (p.Pro2259Arg) n.5039C>G c.7997C>G (p.Pro2666Arg) c.7376C>G (p.Pro2459Arg) c.8096C>G (p.Pro2699Arg) c.8594C>G (p.Pro2865Arg) c.6191C>G (p.Pro2064Arg)
2	g.237336503G>T	CA351192015	COL6A3	c.1242C>A c.7979C>A (p.Pro2660His) c.724C>A n.864C>A c.8597C>A (p.Pro2866His) c.6773C>A (p.Pro2258His) c.6776C>A (p.Pro2259His) n.5039C>A c.7997C>A (p.Pro2666His) c.7376C>A (p.Pro2459His) c.8096C>A (p.Pro2699His) c.8594C>A (p.Pro2865His) c.6191C>A (p.Pro2064His)
2	g.237336504G>A	CA2187493	COL6A3	c.1241C>T c.7978C>T (p.Pro2660Ser) c.723C>T n.863C>T c.8596C>T (p.Pro2866Ser) c.6772C>T (p.Pro2258Ser) c.6775C>T (p.Pro2259Ser) n.5038C>T c.7996C>T (p.Pro2666Ser) c.7375C>T (p.Pro2459Ser) c.8095C>T (p.Pro2699Ser) c.8593C>T (p.Pro2865Ser) c.6190C>T (p.Pro2064Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336504G>C	CA351192019	COL6A3	c.1241C>G c.7978C>G (p.Pro2660Ala) c.723C>G n.863C>G c.8596C>G (p.Pro2866Ala) c.6772C>G (p.Pro2258Ala) c.6775C>G (p.Pro2259Ala) n.5038C>G c.7996C>G (p.Pro2666Ala) c.7375C>G (p.Pro2459Ala) c.8095C>G (p.Pro2699Ala) c.8593C>G (p.Pro2865Ala) c.6190C>G (p.Pro2064Ala)
2	g.237336504G=	CA1337607233	COL6A3	c.1241C= c.7978C= (p.Pro2660=) c.723C= n.863C= c.8596C= (p.Pro2866=) c.6772C= (p.Pro2258=) c.6775C= (p.Pro2259=) n.5038C= c.7996C= (p.Pro2666=) c.7375C= (p.Pro2459=) c.8095C= (p.Pro2699=) c.8593C= (p.Pro2865=) c.6190C= (p.Pro2064=)
2	g.237336504G>T	CA351192018	COL6A3	c.1241C>A c.7978C>A (p.Pro2660Thr) c.723C>A n.863C>A c.8596C>A (p.Pro2866Thr) c.6772C>A (p.Pro2258Thr) c.6775C>A (p.Pro2259Thr) n.5038C>A c.7996C>A (p.Pro2666Thr) c.7375C>A (p.Pro2459Thr) c.8095C>A (p.Pro2699Thr) c.8593C>A (p.Pro2865Thr) c.6190C>A (p.Pro2064Thr)
2	g.237336505A>C	CA351192020	COL6A3	c.1240T>G c.7977T>G (p.Ser2659Arg) c.722T>G n.862T>G c.8595T>G (p.Ser2865Arg) c.6771T>G (p.Ser2257Arg) c.6774T>G (p.Ser2258Arg) n.5037T>G c.7995T>G (p.Ser2665Arg) c.7374T>G (p.Ser2458Arg) c.8094T>G (p.Ser2698Arg) c.8592T>G (p.Ser2864Arg) c.6189T>G (p.Ser2063Arg)
2	g.237336505A>G	CA431674929	COL6A3	c.1240T>C c.7977T>C (p.Ser2659=) c.722T>C n.862T>C c.8595T>C (p.Ser2865=) c.6771T>C (p.Ser2257=) c.6774T>C (p.Ser2258=) n.5037T>C c.7995T>C (p.Ser2665=) c.7374T>C (p.Ser2458=) c.8094T>C (p.Ser2698=) c.8592T>C (p.Ser2864=) c.6189T>C (p.Ser2063=)	gnomAD v4
2	g.237336505A>T	CA351192021	COL6A3	c.1240T>A c.7977T>A (p.Ser2659Arg) c.722T>A n.862T>A c.8595T>A (p.Ser2865Arg) c.6771T>A (p.Ser2257Arg) c.6774T>A (p.Ser2258Arg) n.5037T>A c.7995T>A (p.Ser2665Arg) c.7374T>A (p.Ser2458Arg) c.8094T>A (p.Ser2698Arg) c.8592T>A (p.Ser2864Arg) c.6189T>A (p.Ser2063Arg)
2	g.237336506C>A	CA351192022	COL6A3	c.1239G>T c.7976G>T (p.Ser2659Ile) c.721G>T n.861G>T c.8594G>T (p.Ser2865Ile) c.6770G>T (p.Ser2257Ile) c.6773G>T (p.Ser2258Ile) n.5036G>T c.7994G>T (p.Ser2665Ile) c.7373G>T (p.Ser2458Ile) c.8093G>T (p.Ser2698Ile) c.8591G>T (p.Ser2864Ile) c.6188G>T (p.Ser2063Ile)	dbSNP gnomAD v3 gnomAD v4
2	g.237336506C=	CA1337607234	COL6A3	c.1239G= c.7976G= (p.Ser2659=) c.721G= n.861G= c.8594G= (p.Ser2865=) c.6770G= (p.Ser2257=) c.6773G= (p.Ser2258=) n.5036G= c.7994G= (p.Ser2665=) c.7373G= (p.Ser2458=) c.8093G= (p.Ser2698=) c.8591G= (p.Ser2864=) c.6188G= (p.Ser2063=)
2	g.237336506C>G	CA351192023	COL6A3	c.1239G>C c.7976G>C (p.Ser2659Thr) c.721G>C n.861G>C c.8594G>C (p.Ser2865Thr) c.6770G>C (p.Ser2257Thr) c.6773G>C (p.Ser2258Thr) n.5036G>C c.7994G>C (p.Ser2665Thr) c.7373G>C (p.Ser2458Thr) c.8093G>C (p.Ser2698Thr) c.8591G>C (p.Ser2864Thr) c.6188G>C (p.Ser2063Thr)
2	g.237336506C>T	CA351192024	COL6A3	c.1239G>A c.7976G>A (p.Ser2659Asn) c.721G>A n.861G>A c.8594G>A (p.Ser2865Asn) c.6770G>A (p.Ser2257Asn) c.6773G>A (p.Ser2258Asn) n.5036G>A c.7994G>A (p.Ser2665Asn) c.7373G>A (p.Ser2458Asn) c.8093G>A (p.Ser2698Asn) c.8591G>A (p.Ser2864Asn) c.6188G>A (p.Ser2063Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.237336507T>A	CA351192027	COL6A3	c.1238A>T c.7975A>T (p.Ser2659Cys) c.720A>T n.860A>T c.8593A>T (p.Ser2865Cys) c.6769A>T (p.Ser2257Cys) c.6772A>T (p.Ser2258Cys) n.5035A>T c.7993A>T (p.Ser2665Cys) c.7372A>T (p.Ser2458Cys) c.8092A>T (p.Ser2698Cys) c.8590A>T (p.Ser2864Cys) c.6187A>T (p.Ser2063Cys)	gnomAD v4
2	g.237336507T>C	CA351192026	COL6A3	c.1238A>G c.7975A>G (p.Ser2659Gly) c.720A>G n.860A>G c.8593A>G (p.Ser2865Gly) c.6769A>G (p.Ser2257Gly) c.6772A>G (p.Ser2258Gly) n.5035A>G c.7993A>G (p.Ser2665Gly) c.7372A>G (p.Ser2458Gly) c.8092A>G (p.Ser2698Gly) c.8590A>G (p.Ser2864Gly) c.6187A>G (p.Ser2063Gly)
2	g.237336507T>G	CA351192025	COL6A3	c.1238A>C c.7975A>C (p.Ser2659Arg) c.720A>C n.860A>C c.8593A>C (p.Ser2865Arg) c.6769A>C (p.Ser2257Arg) c.6772A>C (p.Ser2258Arg) n.5035A>C c.7993A>C (p.Ser2665Arg) c.7372A>C (p.Ser2458Arg) c.8092A>C (p.Ser2698Arg) c.8590A>C (p.Ser2864Arg) c.6187A>C (p.Ser2063Arg)
2	g.237336508T>A	CA431674930	COL6A3	c.1237A>T c.7974A>T (p.Ser2658=) c.719A>T n.859A>T c.8592A>T (p.Ser2864=) c.6768A>T (p.Ser2256=) c.6771A>T (p.Ser2257=) n.5034A>T c.7992A>T (p.Ser2664=) c.7371A>T (p.Ser2457=) c.8091A>T (p.Ser2697=) c.8589A>T (p.Ser2863=) c.6186A>T (p.Ser2062=)
2	g.237336508T>C	CA67830771	COL6A3	c.1237A>G c.7974A>G (p.Ser2658=) c.719A>G n.859A>G c.8592A>G (p.Ser2864=) c.6768A>G (p.Ser2256=) c.6771A>G (p.Ser2257=) n.5034A>G c.7992A>G (p.Ser2664=) c.7371A>G (p.Ser2457=) c.8091A>G (p.Ser2697=) c.8589A>G (p.Ser2863=) c.6186A>G (p.Ser2062=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237336508T>G	CA431674931	COL6A3	c.1237A>C c.7974A>C (p.Ser2658=) c.719A>C n.859A>C c.8592A>C (p.Ser2864=) c.6768A>C (p.Ser2256=) c.6771A>C (p.Ser2257=) n.5034A>C c.7992A>C (p.Ser2664=) c.7371A>C (p.Ser2457=) c.8091A>C (p.Ser2697=) c.8589A>C (p.Ser2863=) c.6186A>C (p.Ser2062=)
2	g.237336508T=	CA1337607235	COL6A3	c.1237A= c.7974A= (p.Ser2658=) c.719A= n.859A= c.8592A= (p.Ser2864=) c.6768A= (p.Ser2256=) c.6771A= (p.Ser2257=) n.5034A= c.7992A= (p.Ser2664=) c.7371A= (p.Ser2457=) c.8091A= (p.Ser2697=) c.8589A= (p.Ser2863=) c.6186A= (p.Ser2062=)
2	g.237336509G>A	CA351192028	COL6A3	c.1236C>T c.7973C>T (p.Ser2658Leu) c.718C>T n.858C>T c.8591C>T (p.Ser2864Leu) c.6767C>T (p.Ser2256Leu) c.6770C>T (p.Ser2257Leu) n.5033C>T c.7991C>T (p.Ser2664Leu) c.7370C>T (p.Ser2457Leu) c.8090C>T (p.Ser2697Leu) c.8588C>T (p.Ser2863Leu) c.6185C>T (p.Ser2062Leu)
2	g.237336509G>C	CA351192029	COL6A3	c.1236C>G c.7973C>G (p.Ser2658Ter) c.718C>G n.858C>G c.8591C>G (p.Ser2864Ter) c.6767C>G (p.Ser2256Ter) c.6770C>G (p.Ser2257Ter) n.5033C>G c.7991C>G (p.Ser2664Ter) c.7370C>G (p.Ser2457Ter) c.8090C>G (p.Ser2697Ter) c.8588C>G (p.Ser2863Ter) c.6185C>G (p.Ser2062Ter)
2	g.237336509G>T	CA351192030	COL6A3	c.1236C>A c.7973C>A (p.Ser2658Ter) c.718C>A n.858C>A c.8591C>A (p.Ser2864Ter) c.6767C>A (p.Ser2256Ter) c.6770C>A (p.Ser2257Ter) n.5033C>A c.7991C>A (p.Ser2664Ter) c.7370C>A (p.Ser2457Ter) c.8090C>A (p.Ser2697Ter) c.8588C>A (p.Ser2863Ter) c.6185C>A (p.Ser2062Ter)
2	g.237336510A>C	CA351192031	COL6A3	c.1235T>G c.7972T>G (p.Ser2658Ala) c.717T>G n.857T>G c.8590T>G (p.Ser2864Ala) c.6766T>G (p.Ser2256Ala) c.6769T>G (p.Ser2257Ala) n.5032T>G c.7990T>G (p.Ser2664Ala) c.7369T>G (p.Ser2457Ala) c.8089T>G (p.Ser2697Ala) c.8587T>G (p.Ser2863Ala) c.6184T>G (p.Ser2062Ala)	gnomAD v4
2	g.237336510A>G	CA351192032	COL6A3	c.1235T>C c.7972T>C (p.Ser2658Pro) c.717T>C n.857T>C c.8590T>C (p.Ser2864Pro) c.6766T>C (p.Ser2256Pro) c.6769T>C (p.Ser2257Pro) n.5032T>C c.7990T>C (p.Ser2664Pro) c.7369T>C (p.Ser2457Pro) c.8089T>C (p.Ser2697Pro) c.8587T>C (p.Ser2863Pro) c.6184T>C (p.Ser2062Pro)
2	g.237336510A>T	CA351192033	COL6A3	c.1235T>A c.7972T>A (p.Ser2658Thr) c.717T>A n.857T>A c.8590T>A (p.Ser2864Thr) c.6766T>A (p.Ser2256Thr) c.6769T>A (p.Ser2257Thr) n.5032T>A c.7990T>A (p.Ser2664Thr) c.7369T>A (p.Ser2457Thr) c.8089T>A (p.Ser2697Thr) c.8587T>A (p.Ser2863Thr) c.6184T>A (p.Ser2062Thr)
2	g.237336511A>C	CA431674932	COL6A3	c.1234T>G c.7971T>G (p.Thr2657=) c.716T>G n.856T>G c.8589T>G (p.Thr2863=) c.6765T>G (p.Thr2255=) c.6768T>G (p.Thr2256=) n.5031T>G c.7989T>G (p.Thr2663=) c.7368T>G (p.Thr2456=) c.8088T>G (p.Thr2696=) c.8586T>G (p.Thr2862=) c.6183T>G (p.Thr2061=)
2	g.237336511A>G	CA431674933	COL6A3	c.1234T>C c.7971T>C (p.Thr2657=) c.716T>C n.856T>C c.8589T>C (p.Thr2863=) c.6765T>C (p.Thr2255=) c.6768T>C (p.Thr2256=) n.5031T>C c.7989T>C (p.Thr2663=) c.7368T>C (p.Thr2456=) c.8088T>C (p.Thr2696=) c.8586T>C (p.Thr2862=) c.6183T>C (p.Thr2061=)
2	g.237336511A>T	CA431674934	COL6A3	c.1234T>A c.7971T>A (p.Thr2657=) c.716T>A n.856T>A c.8589T>A (p.Thr2863=) c.6765T>A (p.Thr2255=) c.6768T>A (p.Thr2256=) n.5031T>A c.7989T>A (p.Thr2663=) c.7368T>A (p.Thr2456=) c.8088T>A (p.Thr2696=) c.8586T>A (p.Thr2862=) c.6183T>A (p.Thr2061=)
2	g.237336512G>A	CA351192036	COL6A3	c.1233C>T c.7970C>T (p.Thr2657Ile) c.715C>T n.855C>T c.8588C>T (p.Thr2863Ile) c.6764C>T (p.Thr2255Ile) c.6767C>T (p.Thr2256Ile) n.5030C>T c.7988C>T (p.Thr2663Ile) c.7367C>T (p.Thr2456Ile) c.8087C>T (p.Thr2696Ile) c.8585C>T (p.Thr2862Ile) c.6182C>T (p.Thr2061Ile)	ClinVar
2	g.237336512G>C	CA351192034	COL6A3	c.1233C>G c.7970C>G (p.Thr2657Ser) c.715C>G n.855C>G c.8588C>G (p.Thr2863Ser) c.6764C>G (p.Thr2255Ser) c.6767C>G (p.Thr2256Ser) n.5030C>G c.7988C>G (p.Thr2663Ser) c.7367C>G (p.Thr2456Ser) c.8087C>G (p.Thr2696Ser) c.8585C>G (p.Thr2862Ser) c.6182C>G (p.Thr2061Ser)
2	g.237336512G=	CA1337607236	COL6A3	c.1233C= c.7970C= (p.Thr2657=) c.715C= n.855C= c.8588C= (p.Thr2863=) c.6764C= (p.Thr2255=) c.6767C= (p.Thr2256=) n.5030C= c.7988C= (p.Thr2663=) c.7367C= (p.Thr2456=) c.8087C= (p.Thr2696=) c.8585C= (p.Thr2862=) c.6182C= (p.Thr2061=)
2	g.237336512G>T	CA351192035	COL6A3	c.1233C>A c.7970C>A (p.Thr2657Asn) c.715C>A n.855C>A c.8588C>A (p.Thr2863Asn) c.6764C>A (p.Thr2255Asn) c.6767C>A (p.Thr2256Asn) n.5030C>A c.7988C>A (p.Thr2663Asn) c.7367C>A (p.Thr2456Asn) c.8087C>A (p.Thr2696Asn) c.8585C>A (p.Thr2862Asn) c.6182C>A (p.Thr2061Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.237336513T>A	CA351192037	COL6A3	c.1232A>T c.7969A>T (p.Thr2657Ser) c.714A>T n.854A>T c.8587A>T (p.Thr2863Ser) c.6763A>T (p.Thr2255Ser) c.6766A>T (p.Thr2256Ser) n.5029A>T c.7987A>T (p.Thr2663Ser) c.7366A>T (p.Thr2456Ser) c.8086A>T (p.Thr2696Ser) c.8584A>T (p.Thr2862Ser) c.6181A>T (p.Thr2061Ser)
2	g.237336513T>C	CA351192038	COL6A3	c.1232A>G c.7969A>G (p.Thr2657Ala) c.714A>G n.854A>G c.8587A>G (p.Thr2863Ala) c.6763A>G (p.Thr2255Ala) c.6766A>G (p.Thr2256Ala) n.5029A>G c.7987A>G (p.Thr2663Ala) c.7366A>G (p.Thr2456Ala) c.8086A>G (p.Thr2696Ala) c.8584A>G (p.Thr2862Ala) c.6181A>G (p.Thr2061Ala)
2	g.237336513T>G	CA351192039	COL6A3	c.1232A>C c.7969A>C (p.Thr2657Pro) c.714A>C n.854A>C c.8587A>C (p.Thr2863Pro) c.6763A>C (p.Thr2255Pro) c.6766A>C (p.Thr2256Pro) n.5029A>C c.7987A>C (p.Thr2663Pro) c.7366A>C (p.Thr2456Pro) c.8086A>C (p.Thr2696Pro) c.8584A>C (p.Thr2862Pro) c.6181A>C (p.Thr2061Pro)
2	g.237336514A>C	CA431674935	COL6A3	c.1231T>G c.7968T>G (p.Val2656=) c.713T>G n.853T>G c.8586T>G (p.Val2862=) c.6762T>G (p.Val2254=) c.6765T>G (p.Val2255=) n.5028T>G c.7986T>G (p.Val2662=) c.7365T>G (p.Val2455=) c.8085T>G (p.Val2695=) c.8583T>G (p.Val2861=) c.6180T>G (p.Val2060=)
2	g.237336514A>G	CA431674937	COL6A3	c.1231T>C c.7968T>C (p.Val2656=) c.713T>C n.853T>C c.8586T>C (p.Val2862=) c.6762T>C (p.Val2254=) c.6765T>C (p.Val2255=) n.5028T>C c.7986T>C (p.Val2662=) c.7365T>C (p.Val2455=) c.8085T>C (p.Val2695=) c.8583T>C (p.Val2861=) c.6180T>C (p.Val2060=)	COSMIC
2	g.237336514A>T	CA431674936	COL6A3	c.1231T>A c.7968T>A (p.Val2656=) c.713T>A n.853T>A c.8586T>A (p.Val2862=) c.6762T>A (p.Val2254=) c.6765T>A (p.Val2255=) n.5028T>A c.7986T>A (p.Val2662=) c.7365T>A (p.Val2455=) c.8085T>A (p.Val2695=) c.8583T>A (p.Val2861=) c.6180T>A (p.Val2060=)
2	g.237336515A>C	CA351192040	COL6A3	c.1230T>G c.7967T>G (p.Val2656Gly) c.712T>G n.852T>G c.8585T>G (p.Val2862Gly) c.6761T>G (p.Val2254Gly) c.6764T>G (p.Val2255Gly) n.5027T>G c.7985T>G (p.Val2662Gly) c.7364T>G (p.Val2455Gly) c.8084T>G (p.Val2695Gly) c.8582T>G (p.Val2861Gly) c.6179T>G (p.Val2060Gly)
2	g.237336515A>G	CA351192041	COL6A3	c.1230T>C c.7967T>C (p.Val2656Ala) c.712T>C n.852T>C c.8585T>C (p.Val2862Ala) c.6761T>C (p.Val2254Ala) c.6764T>C (p.Val2255Ala) n.5027T>C c.7985T>C (p.Val2662Ala) c.7364T>C (p.Val2455Ala) c.8084T>C (p.Val2695Ala) c.8582T>C (p.Val2861Ala) c.6179T>C (p.Val2060Ala)
2	g.237336515A>T	CA351192042	COL6A3	c.1230T>A c.7967T>A (p.Val2656Asp) c.712T>A n.852T>A c.8585T>A (p.Val2862Asp) c.6761T>A (p.Val2254Asp) c.6764T>A (p.Val2255Asp) n.5027T>A c.7985T>A (p.Val2662Asp) c.7364T>A (p.Val2455Asp) c.8084T>A (p.Val2695Asp) c.8582T>A (p.Val2861Asp) c.6179T>A (p.Val2060Asp)
2	g.237336516C>A	CA351192043	COL6A3	c.1229G>T c.7966G>T (p.Val2656Phe) c.711G>T n.851G>T c.8584G>T (p.Val2862Phe) c.6760G>T (p.Val2254Phe) c.6763G>T (p.Val2255Phe) n.5026G>T c.7984G>T (p.Val2662Phe) c.7363G>T (p.Val2455Phe) c.8083G>T (p.Val2695Phe) c.8581G>T (p.Val2861Phe) c.6178G>T (p.Val2060Phe)	gnomAD v4
2	g.237336516C=	CA1337607237	COL6A3	c.1229G= c.7966G= (p.Val2656=) c.711G= n.851G= c.8584G= (p.Val2862=) c.6760G= (p.Val2254=) c.6763G= (p.Val2255=) n.5026G= c.7984G= (p.Val2662=) c.7363G= (p.Val2455=) c.8083G= (p.Val2695=) c.8581G= (p.Val2861=) c.6178G= (p.Val2060=)
2	g.237336516C>G	CA351192044	COL6A3	c.1229G>C c.7966G>C (p.Val2656Leu) c.711G>C n.851G>C c.8584G>C (p.Val2862Leu) c.6760G>C (p.Val2254Leu) c.6763G>C (p.Val2255Leu) n.5026G>C c.7984G>C (p.Val2662Leu) c.7363G>C (p.Val2455Leu) c.8083G>C (p.Val2695Leu) c.8581G>C (p.Val2861Leu) c.6178G>C (p.Val2060Leu)
2	g.237336516C>T	CA2187494	COL6A3	c.1229G>A c.7966G>A (p.Val2656Ile) c.711G>A n.851G>A c.8584G>A (p.Val2862Ile) c.6760G>A (p.Val2254Ile) c.6763G>A (p.Val2255Ile) n.5026G>A c.7984G>A (p.Val2662Ile) c.7363G>A (p.Val2455Ile) c.8083G>A (p.Val2695Ile) c.8581G>A (p.Val2861Ile) c.6178G>A (p.Val2060Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336517G>A	CA2187495	COL6A3	c.1228C>T c.7965C>T (p.Asn2655=) c.710C>T n.850C>T c.8583C>T (p.Asn2861=) c.6759C>T (p.Asn2253=) c.6762C>T (p.Asn2254=) n.5025C>T c.7983C>T (p.Asn2661=) c.7362C>T (p.Asn2454=) c.8082C>T (p.Asn2694=) c.8580C>T (p.Asn2860=) c.6177C>T (p.Asn2059=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336517G>C	CA351192045	COL6A3	c.1228C>G c.7965C>G (p.Asn2655Lys) c.710C>G n.850C>G c.8583C>G (p.Asn2861Lys) c.6759C>G (p.Asn2253Lys) c.6762C>G (p.Asn2254Lys) n.5025C>G c.7983C>G (p.Asn2661Lys) c.7362C>G (p.Asn2454Lys) c.8082C>G (p.Asn2694Lys) c.8580C>G (p.Asn2860Lys) c.6177C>G (p.Asn2059Lys)
2	g.237336517G=	CA1337607238	COL6A3	c.1228C= c.7965C= (p.Asn2655=) c.710C= n.850C= c.8583C= (p.Asn2861=) c.6759C= (p.Asn2253=) c.6762C= (p.Asn2254=) n.5025C= c.7983C= (p.Asn2661=) c.7362C= (p.Asn2454=) c.8082C= (p.Asn2694=) c.8580C= (p.Asn2860=) c.6177C= (p.Asn2059=)
2	g.237336517G>T	CA351192046	COL6A3	c.1228C>A c.7965C>A (p.Asn2655Lys) c.710C>A n.850C>A c.8583C>A (p.Asn2861Lys) c.6759C>A (p.Asn2253Lys) c.6762C>A (p.Asn2254Lys) n.5025C>A c.7983C>A (p.Asn2661Lys) c.7362C>A (p.Asn2454Lys) c.8082C>A (p.Asn2694Lys) c.8580C>A (p.Asn2860Lys) c.6177C>A (p.Asn2059Lys)	gnomAD v4
2	g.237336518T>A	CA351192047	COL6A3	c.1227A>T c.7964A>T (p.Asn2655Ile) c.709A>T n.849A>T c.8582A>T (p.Asn2861Ile) c.6758A>T (p.Asn2253Ile) c.6761A>T (p.Asn2254Ile) n.5024A>T c.7982A>T (p.Asn2661Ile) c.7361A>T (p.Asn2454Ile) c.8081A>T (p.Asn2694Ile) c.8579A>T (p.Asn2860Ile) c.6176A>T (p.Asn2059Ile)	dbSNP
2	g.237336518T>C	CA351192049	COL6A3	c.1227A>G c.7964A>G (p.Asn2655Ser) c.709A>G n.849A>G c.8582A>G (p.Asn2861Ser) c.6758A>G (p.Asn2253Ser) c.6761A>G (p.Asn2254Ser) n.5024A>G c.7982A>G (p.Asn2661Ser) c.7361A>G (p.Asn2454Ser) c.8081A>G (p.Asn2694Ser) c.8579A>G (p.Asn2860Ser) c.6176A>G (p.Asn2059Ser)
2	g.237336518T>G	CA351192048	COL6A3	c.1227A>C c.7964A>C (p.Asn2655Thr) c.709A>C n.849A>C c.8582A>C (p.Asn2861Thr) c.6758A>C (p.Asn2253Thr) c.6761A>C (p.Asn2254Thr) n.5024A>C c.7982A>C (p.Asn2661Thr) c.7361A>C (p.Asn2454Thr) c.8081A>C (p.Asn2694Thr) c.8579A>C (p.Asn2860Thr) c.6176A>C (p.Asn2059Thr)
2	g.237336518T=	CA1337607239	COL6A3	c.1227A= c.7964A= (p.Asn2655=) c.709A= n.849A= c.8582A= (p.Asn2861=) c.6758A= (p.Asn2253=) c.6761A= (p.Asn2254=) n.5024A= c.7982A= (p.Asn2661=) c.7361A= (p.Asn2454=) c.8081A= (p.Asn2694=) c.8579A= (p.Asn2860=) c.6176A= (p.Asn2059=)
2	g.237336519T>A	CA351192050	COL6A3	c.1226A>T c.7963A>T (p.Asn2655Tyr) c.708A>T n.848A>T c.8581A>T (p.Asn2861Tyr) c.6757A>T (p.Asn2253Tyr) c.6760A>T (p.Asn2254Tyr) n.5023A>T c.7981A>T (p.Asn2661Tyr) c.7360A>T (p.Asn2454Tyr) c.8080A>T (p.Asn2694Tyr) c.8578A>T (p.Asn2860Tyr) c.6175A>T (p.Asn2059Tyr)
2	g.237336519T>C	CA351192051	COL6A3	c.1226A>G c.7963A>G (p.Asn2655Asp) c.708A>G n.848A>G c.8581A>G (p.Asn2861Asp) c.6757A>G (p.Asn2253Asp) c.6760A>G (p.Asn2254Asp) n.5023A>G c.7981A>G (p.Asn2661Asp) c.7360A>G (p.Asn2454Asp) c.8080A>G (p.Asn2694Asp) c.8578A>G (p.Asn2860Asp) c.6175A>G (p.Asn2059Asp)	gnomAD v4
2	g.237336519T>G	CA351192052	COL6A3	c.1226A>C c.7963A>C (p.Asn2655His) c.708A>C n.848A>C c.8581A>C (p.Asn2861His) c.6757A>C (p.Asn2253His) c.6760A>C (p.Asn2254His) n.5023A>C c.7981A>C (p.Asn2661His) c.7360A>C (p.Asn2454His) c.8080A>C (p.Asn2694His) c.8578A>C (p.Asn2860His) c.6175A>C (p.Asn2059His)
2	g.237336520A>C	CA351192053	COL6A3	c.1225T>G c.7962T>G (p.Asn2654Lys) c.707T>G n.847T>G c.8580T>G (p.Asn2860Lys) c.6756T>G (p.Asn2252Lys) c.6759T>G (p.Asn2253Lys) n.5022T>G c.7980T>G (p.Asn2660Lys) c.7359T>G (p.Asn2453Lys) c.8079T>G (p.Asn2693Lys) c.8577T>G (p.Asn2859Lys) c.6174T>G (p.Asn2058Lys)
2	g.237336520A>G	CA431674938	COL6A3	c.1225T>C c.7962T>C (p.Asn2654=) c.707T>C n.847T>C c.8580T>C (p.Asn2860=) c.6756T>C (p.Asn2252=) c.6759T>C (p.Asn2253=) n.5022T>C c.7980T>C (p.Asn2660=) c.7359T>C (p.Asn2453=) c.8079T>C (p.Asn2693=) c.8577T>C (p.Asn2859=) c.6174T>C (p.Asn2058=)	COSMIC
2	g.237336520A>T	CA351192054	COL6A3	c.1225T>A c.7962T>A (p.Asn2654Lys) c.707T>A n.847T>A c.8580T>A (p.Asn2860Lys) c.6756T>A (p.Asn2252Lys) c.6759T>A (p.Asn2253Lys) n.5022T>A c.7980T>A (p.Asn2660Lys) c.7359T>A (p.Asn2453Lys) c.8079T>A (p.Asn2693Lys) c.8577T>A (p.Asn2859Lys) c.6174T>A (p.Asn2058Lys)
2	g.237336521T>A	CA351192055	COL6A3	c.1224A>T c.7961A>T (p.Asn2654Ile) c.706A>T n.846A>T c.8579A>T (p.Asn2860Ile) c.6755A>T (p.Asn2252Ile) c.6758A>T (p.Asn2253Ile) n.5021A>T c.7979A>T (p.Asn2660Ile) c.7358A>T (p.Asn2453Ile) c.8078A>T (p.Asn2693Ile) c.8576A>T (p.Asn2859Ile) c.6173A>T (p.Asn2058Ile)
2	g.237336521T>C	CA67830779	COL6A3	c.1224A>G c.7961A>G (p.Asn2654Ser) c.706A>G n.846A>G c.8579A>G (p.Asn2860Ser) c.6755A>G (p.Asn2252Ser) c.6758A>G (p.Asn2253Ser) n.5021A>G c.7979A>G (p.Asn2660Ser) c.7358A>G (p.Asn2453Ser) c.8078A>G (p.Asn2693Ser) c.8576A>G (p.Asn2859Ser) c.6173A>G (p.Asn2058Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336521T>G	CA351192056	COL6A3	c.1224A>C c.7961A>C (p.Asn2654Thr) c.706A>C n.846A>C c.8579A>C (p.Asn2860Thr) c.6755A>C (p.Asn2252Thr) c.6758A>C (p.Asn2253Thr) n.5021A>C c.7979A>C (p.Asn2660Thr) c.7358A>C (p.Asn2453Thr) c.8078A>C (p.Asn2693Thr) c.8576A>C (p.Asn2859Thr) c.6173A>C (p.Asn2058Thr)
2	g.237336521T=	CA1337607240	COL6A3	c.1224A= c.7961A= (p.Asn2654=) c.706A= n.846A= c.8579A= (p.Asn2860=) c.6755A= (p.Asn2252=) c.6758A= (p.Asn2253=) n.5021A= c.7979A= (p.Asn2660=) c.7358A= (p.Asn2453=) c.8078A= (p.Asn2693=) c.8576A= (p.Asn2859=) c.6173A= (p.Asn2058=)
2	g.237336522T>A	CA351192057	COL6A3	c.1223A>T c.7960A>T (p.Asn2654Tyr) c.705A>T n.845A>T c.8578A>T (p.Asn2860Tyr) c.6754A>T (p.Asn2252Tyr) c.6757A>T (p.Asn2253Tyr) n.5020A>T c.7978A>T (p.Asn2660Tyr) c.7357A>T (p.Asn2453Tyr) c.8077A>T (p.Asn2693Tyr) c.8575A>T (p.Asn2859Tyr) c.6172A>T (p.Asn2058Tyr)
2	g.237336522T>C	CA351192058	COL6A3	c.1223A>G c.7960A>G (p.Asn2654Asp) c.705A>G n.845A>G c.8578A>G (p.Asn2860Asp) c.6754A>G (p.Asn2252Asp) c.6757A>G (p.Asn2253Asp) n.5020A>G c.7978A>G (p.Asn2660Asp) c.7357A>G (p.Asn2453Asp) c.8077A>G (p.Asn2693Asp) c.8575A>G (p.Asn2859Asp) c.6172A>G (p.Asn2058Asp)	dbSNP gnomAD v2
2	g.237336522T>G	CA351192059	COL6A3	c.1223A>C c.7960A>C (p.Asn2654His) c.705A>C n.845A>C c.8578A>C (p.Asn2860His) c.6754A>C (p.Asn2252His) c.6757A>C (p.Asn2253His) n.5020A>C c.7978A>C (p.Asn2660His) c.7357A>C (p.Asn2453His) c.8077A>C (p.Asn2693His) c.8575A>C (p.Asn2859His) c.6172A>C (p.Asn2058His)
2	g.237336522T=	CA1337607241	COL6A3	c.1223A= c.7960A= (p.Asn2654=) c.705A= n.845A= c.8578A= (p.Asn2860=) c.6754A= (p.Asn2252=) c.6757A= (p.Asn2253=) n.5020A= c.7978A= (p.Asn2660=) c.7357A= (p.Asn2453=) c.8077A= (p.Asn2693=) c.8575A= (p.Asn2859=) c.6172A= (p.Asn2058=)
2	g.237336523C>A	CA431674939	COL6A3	c.1222G>T c.7959G>T (p.Pro2653=) c.704G>T n.844G>T c.8577G>T (p.Pro2859=) c.6753G>T (p.Pro2251=) c.6756G>T (p.Pro2252=) n.5019G>T c.7977G>T (p.Pro2659=) c.7356G>T (p.Pro2452=) c.8076G>T (p.Pro2692=) c.8574G>T (p.Pro2858=) c.6171G>T (p.Pro2057=)
2	g.237336523C=	CA1337607242	COL6A3	c.1222G= c.7959G= (p.Pro2653=) c.704G= n.844G= c.8577G= (p.Pro2859=) c.6753G= (p.Pro2251=) c.6756G= (p.Pro2252=) n.5019G= c.7977G= (p.Pro2659=) c.7356G= (p.Pro2452=) c.8076G= (p.Pro2692=) c.8574G= (p.Pro2858=) c.6171G= (p.Pro2057=)
2	g.237336523C>G	CA431674940	COL6A3	c.1222G>C c.7959G>C (p.Pro2653=) c.704G>C n.844G>C c.8577G>C (p.Pro2859=) c.6753G>C (p.Pro2251=) c.6756G>C (p.Pro2252=) n.5019G>C c.7977G>C (p.Pro2659=) c.7356G>C (p.Pro2452=) c.8076G>C (p.Pro2692=) c.8574G>C (p.Pro2858=) c.6171G>C (p.Pro2057=)
2	g.237336523C>T	CA431674941	COL6A3	c.1222G>A c.7959G>A (p.Pro2653=) c.704G>A n.844G>A c.8577G>A (p.Pro2859=) c.6753G>A (p.Pro2251=) c.6756G>A (p.Pro2252=) n.5019G>A c.7977G>A (p.Pro2659=) c.7356G>A (p.Pro2452=) c.8076G>A (p.Pro2692=) c.8574G>A (p.Pro2858=) c.6171G>A (p.Pro2057=)	dbSNP gnomAD v2 gnomAD v4
2	g.237336524G>A	CA67830780	COL6A3	c.1221C>T c.7958C>T (p.Pro2653Leu) c.703C>T n.843C>T c.8576C>T (p.Pro2859Leu) c.6752C>T (p.Pro2251Leu) c.6755C>T (p.Pro2252Leu) n.5018C>T c.7976C>T (p.Pro2659Leu) c.7355C>T (p.Pro2452Leu) c.8075C>T (p.Pro2692Leu) c.8573C>T (p.Pro2858Leu) c.6170C>T (p.Pro2057Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336524G>C	CA351192061	COL6A3	c.1221C>G c.7958C>G (p.Pro2653Arg) c.703C>G n.843C>G c.8576C>G (p.Pro2859Arg) c.6752C>G (p.Pro2251Arg) c.6755C>G (p.Pro2252Arg) n.5018C>G c.7976C>G (p.Pro2659Arg) c.7355C>G (p.Pro2452Arg) c.8075C>G (p.Pro2692Arg) c.8573C>G (p.Pro2858Arg) c.6170C>G (p.Pro2057Arg)
2	g.237336524G=	CA1337607243	COL6A3	c.1221C= c.7958C= (p.Pro2653=) c.703C= n.843C= c.8576C= (p.Pro2859=) c.6752C= (p.Pro2251=) c.6755C= (p.Pro2252=) n.5018C= c.7976C= (p.Pro2659=) c.7355C= (p.Pro2452=) c.8075C= (p.Pro2692=) c.8573C= (p.Pro2858=) c.6170C= (p.Pro2057=)
2	g.237336524G>T	CA351192060	COL6A3	c.1221C>A c.7958C>A (p.Pro2653Gln) c.703C>A n.843C>A c.8576C>A (p.Pro2859Gln) c.6752C>A (p.Pro2251Gln) c.6755C>A (p.Pro2252Gln) n.5018C>A c.7976C>A (p.Pro2659Gln) c.7355C>A (p.Pro2452Gln) c.8075C>A (p.Pro2692Gln) c.8573C>A (p.Pro2858Gln) c.6170C>A (p.Pro2057Gln)
2	g.237336525G>A	CA351192062	COL6A3	c.1220C>T c.7957C>T (p.Pro2653Ser) c.702C>T n.842C>T c.8575C>T (p.Pro2859Ser) c.6751C>T (p.Pro2251Ser) c.6754C>T (p.Pro2252Ser) n.5017C>T c.7975C>T (p.Pro2659Ser) c.7354C>T (p.Pro2452Ser) c.8074C>T (p.Pro2692Ser) c.8572C>T (p.Pro2858Ser) c.6169C>T (p.Pro2057Ser)	COSMIC
2	g.237336525G>C	CA351192063	COL6A3	c.1220C>G c.7957C>G (p.Pro2653Ala) c.702C>G n.842C>G c.8575C>G (p.Pro2859Ala) c.6751C>G (p.Pro2251Ala) c.6754C>G (p.Pro2252Ala) n.5017C>G c.7975C>G (p.Pro2659Ala) c.7354C>G (p.Pro2452Ala) c.8074C>G (p.Pro2692Ala) c.8572C>G (p.Pro2858Ala) c.6169C>G (p.Pro2057Ala)
2	g.237336525G=	CA1337607245	COL6A3	c.1220C= c.7957C= (p.Pro2653=) c.702C= n.842C= c.8575C= (p.Pro2859=) c.6751C= (p.Pro2251=) c.6754C= (p.Pro2252=) n.5017C= c.7975C= (p.Pro2659=) c.7354C= (p.Pro2452=) c.8074C= (p.Pro2692=) c.8572C= (p.Pro2858=) c.6169C= (p.Pro2057=)
2	g.237336525G>T	CA10604425	COL6A3	c.1220C>A c.7957C>A (p.Pro2653Thr) c.702C>A n.842C>A c.8575C>A (p.Pro2859Thr) c.6751C>A (p.Pro2251Thr) c.6754C>A (p.Pro2252Thr) n.5017C>A c.7975C>A (p.Pro2659Thr) c.7354C>A (p.Pro2452Thr) c.8074C>A (p.Pro2692Thr) c.8572C>A (p.Pro2858Thr) c.6169C>A (p.Pro2057Thr)	ClinVar dbSNP
2	g.237336526A=	CA1337607250	COL6A3	c.1219T= c.7956T= (p.Val2652=) c.701T= n.841T= c.8574T= (p.Val2858=) c.6750T= (p.Val2250=) c.6753T= (p.Val2251=) n.5016T= c.7974T= (p.Val2658=) c.7353T= (p.Val2451=) c.8073T= (p.Val2691=) c.8571T= (p.Val2857=) c.6168T= (p.Val2056=)
2	g.237336526A>C	CA431674942	COL6A3	c.1219T>G c.7956T>G (p.Val2652=) c.701T>G n.841T>G c.8574T>G (p.Val2858=) c.6750T>G (p.Val2250=) c.6753T>G (p.Val2251=) n.5016T>G c.7974T>G (p.Val2658=) c.7353T>G (p.Val2451=) c.8073T>G (p.Val2691=) c.8571T>G (p.Val2857=) c.6168T>G (p.Val2056=)	dbSNP gnomAD v3 gnomAD v4
2	g.237336526A>G	CA431674944	COL6A3	c.1219T>C c.7956T>C (p.Val2652=) c.701T>C n.841T>C c.8574T>C (p.Val2858=) c.6750T>C (p.Val2250=) c.6753T>C (p.Val2251=) n.5016T>C c.7974T>C (p.Val2658=) c.7353T>C (p.Val2451=) c.8073T>C (p.Val2691=) c.8571T>C (p.Val2857=) c.6168T>C (p.Val2056=)
2	g.237336526A>T	CA431674943	COL6A3	c.1219T>A c.7956T>A (p.Val2652=) c.701T>A n.841T>A c.8574T>A (p.Val2858=) c.6750T>A (p.Val2250=) c.6753T>A (p.Val2251=) n.5016T>A c.7974T>A (p.Val2658=) c.7353T>A (p.Val2451=) c.8073T>A (p.Val2691=) c.8571T>A (p.Val2857=) c.6168T>A (p.Val2056=)	gnomAD v4
2	g.237336527A>C	CA351192064	COL6A3	c.1218T>G c.7955T>G (p.Val2652Gly) c.700T>G n.840T>G c.8573T>G (p.Val2858Gly) c.6749T>G (p.Val2250Gly) c.6752T>G (p.Val2251Gly) n.5015T>G c.7973T>G (p.Val2658Gly) c.7352T>G (p.Val2451Gly) c.8072T>G (p.Val2691Gly) c.8570T>G (p.Val2857Gly) c.6167T>G (p.Val2056Gly)
2	g.237336527A>G	CA351192065	COL6A3	c.1218T>C c.7955T>C (p.Val2652Ala) c.700T>C n.840T>C c.8573T>C (p.Val2858Ala) c.6749T>C (p.Val2250Ala) c.6752T>C (p.Val2251Ala) n.5015T>C c.7973T>C (p.Val2658Ala) c.7352T>C (p.Val2451Ala) c.8072T>C (p.Val2691Ala) c.8570T>C (p.Val2857Ala) c.6167T>C (p.Val2056Ala)
2	g.237336527A>T	CA351192066	COL6A3	c.1218T>A c.7955T>A (p.Val2652Asp) c.700T>A n.840T>A c.8573T>A (p.Val2858Asp) c.6749T>A (p.Val2250Asp) c.6752T>A (p.Val2251Asp) n.5015T>A c.7973T>A (p.Val2658Asp) c.7352T>A (p.Val2451Asp) c.8072T>A (p.Val2691Asp) c.8570T>A (p.Val2857Asp) c.6167T>A (p.Val2056Asp)
2	g.237336528C>A	CA351192067	COL6A3	c.1217G>T c.7954G>T (p.Val2652Phe) c.699G>T n.839G>T c.8572G>T (p.Val2858Phe) c.6748G>T (p.Val2250Phe) c.6751G>T (p.Val2251Phe) n.5014G>T c.7972G>T (p.Val2658Phe) c.7351G>T (p.Val2451Phe) c.8071G>T (p.Val2691Phe) c.8569G>T (p.Val2857Phe) c.6166G>T (p.Val2056Phe)
2	g.237336528C=	CA1337607254	COL6A3	c.1217G= c.7954G= (p.Val2652=) c.699G= n.839G= c.8572G= (p.Val2858=) c.6748G= (p.Val2250=) c.6751G= (p.Val2251=) n.5014G= c.7972G= (p.Val2658=) c.7351G= (p.Val2451=) c.8071G= (p.Val2691=) c.8569G= (p.Val2857=) c.6166G= (p.Val2056=)
2	g.237336528C>G	CA351192068	COL6A3	c.1217G>C c.7954G>C (p.Val2652Leu) c.699G>C n.839G>C c.8572G>C (p.Val2858Leu) c.6748G>C (p.Val2250Leu) c.6751G>C (p.Val2251Leu) n.5014G>C c.7972G>C (p.Val2658Leu) c.7351G>C (p.Val2451Leu) c.8071G>C (p.Val2691Leu) c.8569G>C (p.Val2857Leu) c.6166G>C (p.Val2056Leu)
2	g.237336528C>T	CA202881	COL6A3	c.1217G>A c.7954G>A (p.Val2652Ile) c.699G>A n.839G>A c.8572G>A (p.Val2858Ile) c.6748G>A (p.Val2250Ile) c.6751G>A (p.Val2251Ile) n.5014G>A c.7972G>A (p.Val2658Ile) c.7351G>A (p.Val2451Ile) c.8071G>A (p.Val2691Ile) c.8569G>A (p.Val2857Ile) c.6166G>A (p.Val2056Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336529A=	CA1337607256	COL6A3	c.1216T= c.7953T= (p.Asn2651=) c.698T= n.838T= c.8571T= (p.Asn2857=) c.6747T= (p.Asn2249=) c.6750T= (p.Asn2250=) n.5013T= c.7971T= (p.Asn2657=) c.7350T= (p.Asn2450=) c.8070T= (p.Asn2690=) c.8568T= (p.Asn2856=) c.6165T= (p.Asn2055=)
2	g.237336529A>C	CA351192069	COL6A3	c.1216T>G c.7953T>G (p.Asn2651Lys) c.698T>G n.838T>G c.8571T>G (p.Asn2857Lys) c.6747T>G (p.Asn2249Lys) c.6750T>G (p.Asn2250Lys) n.5013T>G c.7971T>G (p.Asn2657Lys) c.7350T>G (p.Asn2450Lys) c.8070T>G (p.Asn2690Lys) c.8568T>G (p.Asn2856Lys) c.6165T>G (p.Asn2055Lys)
2	g.237336529A>G	CA431674947	COL6A3	c.1216T>C c.7953T>C (p.Asn2651=) c.698T>C n.838T>C c.8571T>C (p.Asn2857=) c.6747T>C (p.Asn2249=) c.6750T>C (p.Asn2250=) n.5013T>C c.7971T>C (p.Asn2657=) c.7350T>C (p.Asn2450=) c.8070T>C (p.Asn2690=) c.8568T>C (p.Asn2856=) c.6165T>C (p.Asn2055=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.237336529A>T	CA351192070	COL6A3	c.1216T>A c.7953T>A (p.Asn2651Lys) c.698T>A n.838T>A c.8571T>A (p.Asn2857Lys) c.6747T>A (p.Asn2249Lys) c.6750T>A (p.Asn2250Lys) n.5013T>A c.7971T>A (p.Asn2657Lys) c.7350T>A (p.Asn2450Lys) c.8070T>A (p.Asn2690Lys) c.8568T>A (p.Asn2856Lys) c.6165T>A (p.Asn2055Lys)	dbSNP
2	g.237336530T>A	CA351192073	COL6A3	c.1215A>T c.7952A>T (p.Asn2651Ile) c.697A>T n.837A>T c.8570A>T (p.Asn2857Ile) c.6746A>T (p.Asn2249Ile) c.6749A>T (p.Asn2250Ile) n.5012A>T c.7970A>T (p.Asn2657Ile) c.7349A>T (p.Asn2450Ile) c.8069A>T (p.Asn2690Ile) c.8567A>T (p.Asn2856Ile) c.6164A>T (p.Asn2055Ile)
2	g.237336530T>C	CA351192072	COL6A3	c.1215A>G c.7952A>G (p.Asn2651Ser) c.697A>G n.837A>G c.8570A>G (p.Asn2857Ser) c.6746A>G (p.Asn2249Ser) c.6749A>G (p.Asn2250Ser) n.5012A>G c.7970A>G (p.Asn2657Ser) c.7349A>G (p.Asn2450Ser) c.8069A>G (p.Asn2690Ser) c.8567A>G (p.Asn2856Ser) c.6164A>G (p.Asn2055Ser)	gnomAD v4
2	g.237336530T>G	CA351192071	COL6A3	c.1215A>C c.7952A>C (p.Asn2651Thr) c.697A>C n.837A>C c.8570A>C (p.Asn2857Thr) c.6746A>C (p.Asn2249Thr) c.6749A>C (p.Asn2250Thr) n.5012A>C c.7970A>C (p.Asn2657Thr) c.7349A>C (p.Asn2450Thr) c.8069A>C (p.Asn2690Thr) c.8567A>C (p.Asn2856Thr) c.6164A>C (p.Asn2055Thr)
2	g.237336531T>A	CA351192075	COL6A3	c.1214A>T c.7951A>T (p.Asn2651Tyr) c.696A>T n.836A>T c.8569A>T (p.Asn2857Tyr) c.6745A>T (p.Asn2249Tyr) c.6748A>T (p.Asn2250Tyr) n.5011A>T c.7969A>T (p.Asn2657Tyr) c.7348A>T (p.Asn2450Tyr) c.8068A>T (p.Asn2690Tyr) c.8566A>T (p.Asn2856Tyr) c.6163A>T (p.Asn2055Tyr)
2	g.237336531T>C	CA351192079	COL6A3	c.1214A>G c.7951A>G (p.Asn2651Asp) c.696A>G n.836A>G c.8569A>G (p.Asn2857Asp) c.6745A>G (p.Asn2249Asp) c.6748A>G (p.Asn2250Asp) n.5011A>G c.7969A>G (p.Asn2657Asp) c.7348A>G (p.Asn2450Asp) c.8068A>G (p.Asn2690Asp) c.8566A>G (p.Asn2856Asp) c.6163A>G (p.Asn2055Asp)
2	g.237336531T>G	CA351192077	COL6A3	c.1214A>C c.7951A>C (p.Asn2651His) c.696A>C n.836A>C c.8569A>C (p.Asn2857His) c.6745A>C (p.Asn2249His) c.6748A>C (p.Asn2250His) n.5011A>C c.7969A>C (p.Asn2657His) c.7348A>C (p.Asn2450His) c.8068A>C (p.Asn2690His) c.8566A>C (p.Asn2856His) c.6163A>C (p.Asn2055His)
2	g.237336532T>A	CA431674948	COL6A3	c.1213A>T c.7950A>T (p.Val2650=) c.695A>T n.835A>T c.8568A>T (p.Val2856=) c.6744A>T (p.Val2248=) c.6747A>T (p.Val2249=) n.5010A>T c.7968A>T (p.Val2656=) c.7347A>T (p.Val2449=) c.8067A>T (p.Val2689=) c.8565A>T (p.Val2855=) c.6162A>T (p.Val2054=)
2	g.237336532T>C	CA431674949	COL6A3	c.1213A>G c.7950A>G (p.Val2650=) c.695A>G n.835A>G c.8568A>G (p.Val2856=) c.6744A>G (p.Val2248=) c.6747A>G (p.Val2249=) n.5010A>G c.7968A>G (p.Val2656=) c.7347A>G (p.Val2449=) c.8067A>G (p.Val2689=) c.8565A>G (p.Val2855=) c.6162A>G (p.Val2054=)
2	g.237336532T>G	CA431674950	COL6A3	c.1213A>C c.7950A>C (p.Val2650=) c.695A>C n.835A>C c.8568A>C (p.Val2856=) c.6744A>C (p.Val2248=) c.6747A>C (p.Val2249=) n.5010A>C c.7968A>C (p.Val2656=) c.7347A>C (p.Val2449=) c.8067A>C (p.Val2689=) c.8565A>C (p.Val2855=) c.6162A>C (p.Val2054=)
2	g.237336533C>A	CA351192083	COL6A3	c.1213-1G>T c.7950-1G>T (n.7950-1G>T) c.695-1G>T n.835-1G>T c.8568-1G>T (n.8568-1G>T) c.6744-1G>T (n.6744-1G>T) c.6747-1G>T (n.6747-1G>T) n.5010-1G>T c.7968-1G>T (n.7968-1G>T) c.7347-1G>T (n.7347-1G>T) c.8067-1G>T (n.8067-1G>T) c.8565-1G>T (n.8565-1G>T) c.6162-1G>T (n.6162-1G>T)
2	g.237336533C>G	CA351192085	COL6A3	c.1213-1G>C c.7950-1G>C (n.7950-1G>C) c.695-1G>C n.835-1G>C c.8568-1G>C (n.8568-1G>C) c.6744-1G>C (n.6744-1G>C) c.6747-1G>C (n.6747-1G>C) n.5010-1G>C c.7968-1G>C (n.7968-1G>C) c.7347-1G>C (n.7347-1G>C) c.8067-1G>C (n.8067-1G>C) c.8565-1G>C (n.8565-1G>C) c.6162-1G>C (n.6162-1G>C)
2	g.237336533C>T	CA351192086	COL6A3	c.1213-1G>A c.7950-1G>A (n.7950-1G>A) c.695-1G>A n.835-1G>A c.8568-1G>A (n.8568-1G>A) c.6744-1G>A (n.6744-1G>A) c.6747-1G>A (n.6747-1G>A) n.5010-1G>A c.7968-1G>A (n.7968-1G>A) c.7347-1G>A (n.7347-1G>A) c.8067-1G>A (n.8067-1G>A) c.8565-1G>A (n.8565-1G>A) c.6162-1G>A (n.6162-1G>A)	COSMIC
2	g.237336534T>A	CA351192087	COL6A3	c.1213-2A>T c.7950-2A>T (n.7950-2A>T) c.695-2A>T n.835-2A>T c.8568-2A>T (n.8568-2A>T) c.6744-2A>T (n.6744-2A>T) c.6747-2A>T (n.6747-2A>T) n.5010-2A>T c.7968-2A>T (n.7968-2A>T) c.7347-2A>T (n.7347-2A>T) c.8067-2A>T (n.8067-2A>T) c.8565-2A>T (n.8565-2A>T) c.6162-2A>T (n.6162-2A>T)
2	g.237336534T>C	CA351192089	COL6A3	c.1213-2A>G c.7950-2A>G (n.7950-2A>G) c.695-2A>G n.835-2A>G c.8568-2A>G (n.8568-2A>G) c.6744-2A>G (n.6744-2A>G) c.6747-2A>G (n.6747-2A>G) n.5010-2A>G c.7968-2A>G (n.7968-2A>G) c.7347-2A>G (n.7347-2A>G) c.8067-2A>G (n.8067-2A>G) c.8565-2A>G (n.8565-2A>G) c.6162-2A>G (n.6162-2A>G)
2	g.237336534T>G	CA351192090	COL6A3	c.1213-2A>C c.7950-2A>C (n.7950-2A>C) c.695-2A>C n.835-2A>C c.8568-2A>C (n.8568-2A>C) c.6744-2A>C (n.6744-2A>C) c.6747-2A>C (n.6747-2A>C) n.5010-2A>C c.7968-2A>C (n.7968-2A>C) c.7347-2A>C (n.7347-2A>C) c.8067-2A>C (n.8067-2A>C) c.8565-2A>C (n.8565-2A>C) c.6162-2A>C (n.6162-2A>C)	gnomAD v4
2	g.237336535G=	CA1337607257	COL6A3	c.1213-3C= c.7950-3C= (n.7950-3C=) c.695-3C= n.835-3C= c.8568-3C= (n.8568-3C=) c.6744-3C= (n.6744-3C=) c.6747-3C= (n.6747-3C=) n.5010-3C= c.7968-3C= (n.7968-3C=) c.7347-3C= (n.7347-3C=) c.8067-3C= (n.8067-3C=) c.8565-3C= (n.8565-3C=) c.6162-3C= (n.6162-3C=)
2	g.237336535G>T	CA1337607258	COL6A3	c.1213-3C>A c.7950-3C>A (n.7950-3C>A) c.695-3C>A n.835-3C>A c.8568-3C>A (n.8568-3C>A) c.6744-3C>A (n.6744-3C>A) c.6747-3C>A (n.6747-3C>A) n.5010-3C>A c.7968-3C>A (n.7968-3C>A) c.7347-3C>A (n.7347-3C>A) c.8067-3C>A (n.8067-3C>A) c.8565-3C>A (n.8565-3C>A) c.6162-3C>A (n.6162-3C>A)	dbSNP
2	g.237336540G>A	CA1043806677	COL6A3	c.1213-8C>T c.7950-8C>T (n.7950-8C>T) c.695-8C>T n.835-8C>T c.8568-8C>T (n.8568-8C>T) c.6744-8C>T (n.6744-8C>T) c.6747-8C>T (n.6747-8C>T) n.5010-8C>T c.7968-8C>T (n.7968-8C>T) c.7347-8C>T (n.7347-8C>T) c.8067-8C>T (n.8067-8C>T) c.8565-8C>T (n.8565-8C>T) c.6162-8C>T (n.6162-8C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.237336540G=	CA1337607259	COL6A3	c.1213-8C= c.7950-8C= (n.7950-8C=) c.695-8C= n.835-8C= c.8568-8C= (n.8568-8C=) c.6744-8C= (n.6744-8C=) c.6747-8C= (n.6747-8C=) n.5010-8C= c.7968-8C= (n.7968-8C=) c.7347-8C= (n.7347-8C=) c.8067-8C= (n.8067-8C=) c.8565-8C= (n.8565-8C=) c.6162-8C= (n.6162-8C=)
2	g.237336541A=	CA1337607261	COL6A3	c.1213-9T= c.7950-9T= (n.7950-9T=) c.695-9T= n.835-9T= c.8568-9T= (n.8568-9T=) c.6744-9T= (n.6744-9T=) c.6747-9T= (n.6747-9T=) n.5010-9T= c.7968-9T= (n.7968-9T=) c.7347-9T= (n.7347-9T=) c.8067-9T= (n.8067-9T=) c.8565-9T= (n.8565-9T=) c.6162-9T= (n.6162-9T=)
2	g.237336541A>G	CA766623632	COL6A3	c.1213-9T>C c.7950-9T>C (n.7950-9T>C) c.695-9T>C n.835-9T>C c.8568-9T>C (n.8568-9T>C) c.6744-9T>C (n.6744-9T>C) c.6747-9T>C (n.6747-9T>C) n.5010-9T>C c.7968-9T>C (n.7968-9T>C) c.7347-9T>C (n.7347-9T>C) c.8067-9T>C (n.8067-9T>C) c.8565-9T>C (n.8565-9T>C) c.6162-9T>C (n.6162-9T>C)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.237336542C>A	CA1337607265	COL6A3	c.1213-10G>T c.7950-10G>T (n.7950-10G>T) c.695-10G>T n.835-10G>T c.8568-10G>T (n.8568-10G>T) c.6744-10G>T (n.6744-10G>T) c.6747-10G>T (n.6747-10G>T) n.5010-10G>T c.7968-10G>T (n.7968-10G>T) c.7347-10G>T (n.7347-10G>T) c.8067-10G>T (n.8067-10G>T) c.8565-10G>T (n.8565-10G>T) c.6162-10G>T (n.6162-10G>T)	ClinVar dbSNP gnomAD v4
2	g.237336542C=	CA1337607264	COL6A3	c.1213-10G= c.7950-10G= (n.7950-10G=) c.695-10G= n.835-10G= c.8568-10G= (n.8568-10G=) c.6744-10G= (n.6744-10G=) c.6747-10G= (n.6747-10G=) n.5010-10G= c.7968-10G= (n.7968-10G=) c.7347-10G= (n.7347-10G=) c.8067-10G= (n.8067-10G=) c.8565-10G= (n.8565-10G=) c.6162-10G= (n.6162-10G=)
2	g.237336542C>G	CA2663791461	COL6A3	c.1213-10G>C c.7950-10G>C (n.7950-10G>C) c.695-10G>C n.835-10G>C c.8568-10G>C (n.8568-10G>C) c.6744-10G>C (n.6744-10G>C) c.6747-10G>C (n.6747-10G>C) n.5010-10G>C c.7968-10G>C (n.7968-10G>C) c.7347-10G>C (n.7347-10G>C) c.8067-10G>C (n.8067-10G>C) c.8565-10G>C (n.8565-10G>C) c.6162-10G>C (n.6162-10G>C)	ClinVar gnomAD v4
2	g.237336542C>T	CA67830787	COL6A3	c.1213-10G>A c.7950-10G>A (n.7950-10G>A) c.695-10G>A n.835-10G>A c.8568-10G>A (n.8568-10G>A) c.6744-10G>A (n.6744-10G>A) c.6747-10G>A (n.6747-10G>A) n.5010-10G>A c.7968-10G>A (n.7968-10G>A) c.7347-10G>A (n.7347-10G>A) c.8067-10G>A (n.8067-10G>A) c.8565-10G>A (n.8565-10G>A) c.6162-10G>A (n.6162-10G>A)	dbSNP
2	g.237336544A=	CA1337607267	COL6A3	c.1213-12T= c.7950-12T= (n.7950-12T=) c.695-12T= n.835-12T= c.8568-12T= (n.8568-12T=) c.6744-12T= (n.6744-12T=) c.6747-12T= (n.6747-12T=) n.5010-12T= c.7968-12T= (n.7968-12T=) c.7347-12T= (n.7347-12T=) c.8067-12T= (n.8067-12T=) c.8565-12T= (n.8565-12T=) c.6162-12T= (n.6162-12T=)
2	g.237336544A>G	CA540461130	COL6A3	c.1213-12T>C c.7950-12T>C (n.7950-12T>C) c.695-12T>C n.835-12T>C c.8568-12T>C (n.8568-12T>C) c.6744-12T>C (n.6744-12T>C) c.6747-12T>C (n.6747-12T>C) n.5010-12T>C c.7968-12T>C (n.7968-12T>C) c.7347-12T>C (n.7347-12T>C) c.8067-12T>C (n.8067-12T>C) c.8565-12T>C (n.8565-12T>C) c.6162-12T>C (n.6162-12T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336544A>T	CA67830789	COL6A3	c.1213-12T>A c.7950-12T>A (n.7950-12T>A) c.695-12T>A n.835-12T>A c.8568-12T>A (n.8568-12T>A) c.6744-12T>A (n.6744-12T>A) c.6747-12T>A (n.6747-12T>A) n.5010-12T>A c.7968-12T>A (n.7968-12T>A) c.7347-12T>A (n.7347-12T>A) c.8067-12T>A (n.8067-12T>A) c.8565-12T>A (n.8565-12T>A) c.6162-12T>A (n.6162-12T>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336546T>C	CA540461131	COL6A3	c.1213-14A>G c.7950-14A>G (n.7950-14A>G) c.695-14A>G n.835-14A>G c.8568-14A>G (n.8568-14A>G) c.6744-14A>G (n.6744-14A>G) c.6747-14A>G (n.6747-14A>G) n.5010-14A>G c.7968-14A>G (n.7968-14A>G) c.7347-14A>G (n.7347-14A>G) c.8067-14A>G (n.8067-14A>G) c.8565-14A>G (n.8565-14A>G) c.6162-14A>G (n.6162-14A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.237336546T=	CA1337607270	COL6A3	c.1213-14A= c.7950-14A= (n.7950-14A=) c.695-14A= n.835-14A= c.8568-14A= (n.8568-14A=) c.6744-14A= (n.6744-14A=) c.6747-14A= (n.6747-14A=) n.5010-14A= c.7968-14A= (n.7968-14A=) c.7347-14A= (n.7347-14A=) c.8067-14A= (n.8067-14A=) c.8565-14A= (n.8565-14A=) c.6162-14A= (n.6162-14A=)
2	g.237336547T>G	CA2577289275	COL6A3	c.1213-15A>C c.7950-15A>C (n.7950-15A>C) c.695-15A>C n.835-15A>C c.8568-15A>C (n.8568-15A>C) c.6744-15A>C (n.6744-15A>C) c.6747-15A>C (n.6747-15A>C) n.5010-15A>C c.7968-15A>C (n.7968-15A>C) c.7347-15A>C (n.7347-15A>C) c.8067-15A>C (n.8067-15A>C) c.8565-15A>C (n.8565-15A>C) c.6162-15A>C (n.6162-15A>C)
2	g.237336548A>C	CA2701806150	COL6A3	c.1213-16T>G c.7950-16T>G (n.7950-16T>G) c.695-16T>G n.835-16T>G c.8568-16T>G (n.8568-16T>G) c.6744-16T>G (n.6744-16T>G) c.6747-16T>G (n.6747-16T>G) n.5010-16T>G c.7968-16T>G (n.7968-16T>G) c.7347-16T>G (n.7347-16T>G) c.8067-16T>G (n.8067-16T>G) c.8565-16T>G (n.8565-16T>G) c.6162-16T>G (n.6162-16T>G)	dbSNP
2	g.237336549A=	CA1337607271	COL6A3	c.1213-17T= c.7950-17T= (n.7950-17T=) c.695-17T= n.835-17T= c.8568-17T= (n.8568-17T=) c.6744-17T= (n.6744-17T=) c.6747-17T= (n.6747-17T=) n.5010-17T= c.7968-17T= (n.7968-17T=) c.7347-17T= (n.7347-17T=) c.8067-17T= (n.8067-17T=) c.8565-17T= (n.8565-17T=) c.6162-17T= (n.6162-17T=)
2	g.237336549A>C	CA1337607273	COL6A3	c.1213-17T>G c.7950-17T>G (n.7950-17T>G) c.695-17T>G n.835-17T>G c.8568-17T>G (n.8568-17T>G) c.6744-17T>G (n.6744-17T>G) c.6747-17T>G (n.6747-17T>G) n.5010-17T>G c.7968-17T>G (n.7968-17T>G) c.7347-17T>G (n.7347-17T>G) c.8067-17T>G (n.8067-17T>G) c.8565-17T>G (n.8565-17T>G) c.6162-17T>G (n.6162-17T>G)	dbSNP
2	g.237336549A>T	CA2663791462	COL6A3	c.1213-17T>A c.7950-17T>A (n.7950-17T>A) c.695-17T>A n.835-17T>A c.8568-17T>A (n.8568-17T>A) c.6744-17T>A (n.6744-17T>A) c.6747-17T>A (n.6747-17T>A) n.5010-17T>A c.7968-17T>A (n.7968-17T>A) c.7347-17T>A (n.7347-17T>A) c.8067-17T>A (n.8067-17T>A) c.8565-17T>A (n.8565-17T>A) c.6162-17T>A (n.6162-17T>A)	gnomAD v4
2	g.237336551T>C	CA10586820	COL6A3	c.1213-19A>G c.7950-19A>G (n.7950-19A>G) c.695-19A>G n.835-19A>G c.8568-19A>G (n.8568-19A>G) c.6744-19A>G (n.6744-19A>G) c.6747-19A>G (n.6747-19A>G) n.5010-19A>G c.7968-19A>G (n.7968-19A>G) c.7347-19A>G (n.7347-19A>G) c.8067-19A>G (n.8067-19A>G) c.8565-19A>G (n.8565-19A>G) c.6162-19A>G (n.6162-19A>G)	ClinVar dbSNP
2	g.237336551T=	CA1337607275	COL6A3	c.1213-19A= c.7950-19A= (n.7950-19A=) c.695-19A= n.835-19A= c.8568-19A= (n.8568-19A=) c.6744-19A= (n.6744-19A=) c.6747-19A= (n.6747-19A=) n.5010-19A= c.7968-19A= (n.7968-19A=) c.7347-19A= (n.7347-19A=) c.8067-19A= (n.8067-19A=) c.8565-19A= (n.8565-19A=) c.6162-19A= (n.6162-19A=)
2	g.237336555A=	CA1337607276	COL6A3	c.1213-23T= c.7950-23T= (n.7950-23T=) c.695-23T= n.835-23T= c.8568-23T= (n.8568-23T=) c.6744-23T= (n.6744-23T=) c.6747-23T= (n.6747-23T=) n.5010-23T= c.7968-23T= (n.7968-23T=) c.7347-23T= (n.7347-23T=) c.8067-23T= (n.8067-23T=) c.8565-23T= (n.8565-23T=) c.6162-23T= (n.6162-23T=)
2	g.237336555A>G	CA67830791	COL6A3	c.1213-23T>C c.7950-23T>C (n.7950-23T>C) c.695-23T>C n.835-23T>C c.8568-23T>C (n.8568-23T>C) c.6744-23T>C (n.6744-23T>C) c.6747-23T>C (n.6747-23T>C) n.5010-23T>C c.7968-23T>C (n.7968-23T>C) c.7347-23T>C (n.7347-23T>C) c.8067-23T>C (n.8067-23T>C) c.8565-23T>C (n.8565-23T>C) c.6162-23T>C (n.6162-23T>C)	dbSNP
2	g.237336556C>T	CA2663791464	COL6A3	c.1213-24G>A c.7950-24G>A (n.7950-24G>A) c.695-24G>A n.835-24G>A c.8568-24G>A (n.8568-24G>A) c.6744-24G>A (n.6744-24G>A) c.6747-24G>A (n.6747-24G>A) n.5010-24G>A c.7968-24G>A (n.7968-24G>A) c.7347-24G>A (n.7347-24G>A) c.8067-24G>A (n.8067-24G>A) c.8565-24G>A (n.8565-24G>A) c.6162-24G>A (n.6162-24G>A)	gnomAD v4
2	g.237336557C>A	CA2187496	COL6A3	c.1213-25G>T c.7950-25G>T (n.7950-25G>T) c.695-25G>T n.835-25G>T c.8568-25G>T (n.8568-25G>T) c.6744-25G>T (n.6744-25G>T) c.6747-25G>T (n.6747-25G>T) n.5010-25G>T c.7968-25G>T (n.7968-25G>T) c.7347-25G>T (n.7347-25G>T) c.8067-25G>T (n.8067-25G>T) c.8565-25G>T (n.8565-25G>T) c.6162-25G>T (n.6162-25G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336557C=	CA1337607278	COL6A3	c.1213-25G= c.7950-25G= (n.7950-25G=) c.695-25G= n.835-25G= c.8568-25G= (n.8568-25G=) c.6744-25G= (n.6744-25G=) c.6747-25G= (n.6747-25G=) n.5010-25G= c.7968-25G= (n.7968-25G=) c.7347-25G= (n.7347-25G=) c.8067-25G= (n.8067-25G=) c.8565-25G= (n.8565-25G=) c.6162-25G= (n.6162-25G=)

Number of alleles fetched