Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.237336409_237336430delinsCACAGGCTTTGTTGTGGTGGTT	CA1337607183	COL6A3	c.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=)
2	g.237336430_237336450dup	CA1043806476	COL6A3	c.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
2	g.237336430_237336450del	CA2187464	COL6A3	c.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
2	g.237336417T>A	CA351191856	COL6A3	c.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)
2	g.237336417T>C	CA351191857	COL6A3	c.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)
2	g.237336417T>G	CA351191855	COL6A3	c.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)
2	g.237336418T>A	CA431702436	COL6A3	c.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=)
2	g.237336418T>C	CA431702438	COL6A3	c.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=)
2	g.237336418T>G	CA431702441	COL6A3	c.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=)
2	g.237336419G>A	CA2187466	COL6A3	c.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
2	g.237336419G>C	CA351191858	COL6A3	c.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)
2	g.237336419G=	CA1337607187	COL6A3	c.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=)
2	g.237336419G>T	CA351191859	COL6A3	c.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)
2	g.237336420T>A	CA351191860	COL6A3	c.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)
2	g.237336420T>C	CA351191861	COL6A3	c.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
2	g.237336420T>G	CA351191862	COL6A3	c.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)
2	g.237336420T=	CA1337607188	COL6A3	c.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=)
2	g.237336421T>A	CA431702458	COL6A3	c.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=)
2	g.237336421T>C	CA431702454	COL6A3	c.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=)
2	g.237336421T>G	CA431702456	COL6A3	c.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=)
2	g.237336422G>A	CA351191865	COL6A3	c.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)
2	g.237336422G>C	CA351191863	COL6A3	c.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)
2	g.237336422G>T	CA351191864	COL6A3	c.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)
2	g.237336423T>A	CA351191866	COL6A3	c.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)
2	g.237336423T>C	CA2187467	COL6A3	c.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
2	g.237336423T>G	CA351191867	COL6A3	c.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)
2	g.237336423T=	CA1337607189	COL6A3	c.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=)
2	g.237336424G>A	CA431702472	COL6A3	c.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
2	g.237336424G>C	CA431702474	COL6A3	c.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
2	g.237336424G=	CA1337607190	COL6A3	c.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=)
2	g.237336424G>T	CA431702476	COL6A3	c.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
2	g.237336424_237336425insTTGG	CA2754786750	COL6A3	c.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?)
2	g.237336424_237336425insTTGGGT	CA2754786751	COL6A3	c.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)
2	g.237336425G>A	CA351191868	COL6A3	c.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
2	g.237336425G>C	CA351191869	COL6A3	c.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)
2	g.237336425G>T	CA351191870	COL6A3	c.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)
2	g.237336426T>A	CA351191871	COL6A3	c.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)
2	g.237336426T>C	CA351191873	COL6A3	c.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)
2	g.237336426T>G	CA351191872	COL6A3	c.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)
2	g.237336426T=	CA1337607191	COL6A3	c.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=)
2	g.237336427G>A	CA431702490	COL6A3	c.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=)
2	g.237336427G>C	CA431702493	COL6A3	c.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=)
2	g.237336427G=	CA1337607192	COL6A3	c.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=)
2	g.237336427G>T	CA2187468	COL6A3	c.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
2	g.237336428dup	CA67830681	COL6A3	c.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
2	g.237336427_237336428insT	CA2754786752	COL6A3	c.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?)
2	g.237336427_237336428insTGTTTGGT	CA2754786753	COL6A3	c.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)
2	g.237336428G>A	CA351191874	COL6A3	c.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)
2	g.237336428G>C	CA351191875	COL6A3	c.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)
2	g.237336428G>T	CA351191876	COL6A3	c.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)
2	g.237336428_237336429insGTGTGT	CA2754786754	COL6A3	c.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)
2	g.237336429T>A	CA351191877	COL6A3	c.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)
2	g.237336429T>C	CA351191878	COL6A3	c.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)
2	g.237336429T>G	CA351191879	COL6A3	c.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)
2	g.237336430T>A	CA431702495	COL6A3	c.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=)
2	g.237336430T>C	CA67830694	COL6A3	c.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
2	g.237336430T>G	CA431702494	COL6A3	c.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=)
2	g.237336430T=	CA1337607193	COL6A3	c.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=)
2	g.237336431A=	CA1337607195	COL6A3	c.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=)
2	g.237336431A>C	CA351191880	COL6A3	c.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)
2	g.237336431A>G	CA2187469	COL6A3	c.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
2	g.237336431A>T	CA351191881	COL6A3	c.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)
2	g.237336431_237336433del	CA2754786755	COL6A3	c.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)
2	g.237336433_237336453dup	CA1337607194	COL6A3	c.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
2	g.237336432C>A	CA351191882	COL6A3	c.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)
2	g.237336432C>G	CA351191884	COL6A3	c.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)
2	g.237336432C>T	CA351191883	COL6A3	c.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)
2	g.237336433A=	CA1337607196	COL6A3	c.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=)
2	g.237336433A>C	CA431702496	COL6A3	c.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
2	g.237336433A>G	CA431702497	COL6A3	c.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
2	g.237336433A>T	CA431702498	COL6A3	c.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=)
2	g.237336434G>A	CA351191885	COL6A3	c.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
2	g.237336434G>C	CA351191886	COL6A3	c.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)
2	g.237336434G=	CA1337607197	COL6A3	c.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=)
2	g.237336434G>T	CA351191887	COL6A3	c.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)
2	g.237336439_237336459dup	CA2187470	COL6A3	c.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
2	g.237336435G>A	CA351191888	COL6A3	c.1310C>T c.8047C>T (p.Pro2683Ser) c.792C>T n.932C>T c.8665C>T (p.Pro2889Ser) c.6841C>T (p.Pro2281Ser) c.6844C>T (p.Pro2282Ser) n.5107C>T c.8065C>T (p.Pro2689Ser) c.7444C>T (p.Pro2482Ser) c.8164C>T (p.Pro2722Ser) c.8662C>T (p.Pro2888Ser) c.6259C>T (p.Pro2087Ser)	dbSNP gnomAD v4
2	g.237336435G>C	CA351191889	COL6A3	c.1310C>G c.8047C>G (p.Pro2683Ala) c.792C>G n.932C>G c.8665C>G (p.Pro2889Ala) c.6841C>G (p.Pro2281Ala) c.6844C>G (p.Pro2282Ala) n.5107C>G c.8065C>G (p.Pro2689Ala) c.7444C>G (p.Pro2482Ala) c.8164C>G (p.Pro2722Ala) c.8662C>G (p.Pro2888Ala) c.6259C>G (p.Pro2087Ala)
2	g.237336435G=	CA1337607198	COL6A3	c.1310C= c.8047C= (p.Pro2683=) c.792C= n.932C= c.8665C= (p.Pro2889=) c.6841C= (p.Pro2281=) c.6844C= (p.Pro2282=) n.5107C= c.8065C= (p.Pro2689=) c.7444C= (p.Pro2482=) c.8164C= (p.Pro2722=) c.8662C= (p.Pro2888=) c.6259C= (p.Pro2087=)
2	g.237336435G>T	CA351191890	COL6A3	c.1310C>A c.8047C>A (p.Pro2683Thr) c.792C>A n.932C>A c.8665C>A (p.Pro2889Thr) c.6841C>A (p.Pro2281Thr) c.6844C>A (p.Pro2282Thr) n.5107C>A c.8065C>A (p.Pro2689Thr) c.7444C>A (p.Pro2482Thr) c.8164C>A (p.Pro2722Thr) c.8662C>A (p.Pro2888Thr) c.6259C>A (p.Pro2087Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336436C>A	CA351191891	COL6A3	c.1309G>T c.8046G>T (p.Lys2682Asn) c.791G>T n.931G>T c.8664G>T (p.Lys2888Asn) c.6840G>T (p.Lys2280Asn) c.6843G>T (p.Lys2281Asn) n.5106G>T c.8064G>T (p.Lys2688Asn) c.7443G>T (p.Lys2481Asn) c.8163G>T (p.Lys2721Asn) c.8661G>T (p.Lys2887Asn) c.6258G>T (p.Lys2086Asn)	gnomAD v4
2	g.237336436C>G	CA351191892	COL6A3	c.1309G>C c.8046G>C (p.Lys2682Asn) c.791G>C n.931G>C c.8664G>C (p.Lys2888Asn) c.6840G>C (p.Lys2280Asn) c.6843G>C (p.Lys2281Asn) n.5106G>C c.8064G>C (p.Lys2688Asn) c.7443G>C (p.Lys2481Asn) c.8163G>C (p.Lys2721Asn) c.8661G>C (p.Lys2887Asn) c.6258G>C (p.Lys2086Asn)
2	g.237336436C>T	CA431702499	COL6A3	c.1309G>A c.8046G>A (p.Lys2682=) c.791G>A n.931G>A c.8664G>A (p.Lys2888=) c.6840G>A (p.Lys2280=) c.6843G>A (p.Lys2281=) n.5106G>A c.8064G>A (p.Lys2688=) c.7443G>A (p.Lys2481=) c.8163G>A (p.Lys2721=) c.8661G>A (p.Lys2887=) c.6258G>A (p.Lys2086=)
2	g.237336437T>A	CA351191893	COL6A3	c.1308A>T c.8045A>T (p.Lys2682Met) c.790A>T n.930A>T c.8663A>T (p.Lys2888Met) c.6839A>T (p.Lys2280Met) c.6842A>T (p.Lys2281Met) n.5105A>T c.8063A>T (p.Lys2688Met) c.7442A>T (p.Lys2481Met) c.8162A>T (p.Lys2721Met) c.8660A>T (p.Lys2887Met) c.6257A>T (p.Lys2086Met)
2	g.237336437T>C	CA351191894	COL6A3	c.1308A>G c.8045A>G (p.Lys2682Arg) c.790A>G n.930A>G c.8663A>G (p.Lys2888Arg) c.6839A>G (p.Lys2280Arg) c.6842A>G (p.Lys2281Arg) n.5105A>G c.8063A>G (p.Lys2688Arg) c.7442A>G (p.Lys2481Arg) c.8162A>G (p.Lys2721Arg) c.8660A>G (p.Lys2887Arg) c.6257A>G (p.Lys2086Arg)
2	g.237336437T>G	CA351191895	COL6A3	c.1308A>C c.8045A>C (p.Lys2682Thr) c.790A>C n.930A>C c.8663A>C (p.Lys2888Thr) c.6839A>C (p.Lys2280Thr) c.6842A>C (p.Lys2281Thr) n.5105A>C c.8063A>C (p.Lys2688Thr) c.7442A>C (p.Lys2481Thr) c.8162A>C (p.Lys2721Thr) c.8660A>C (p.Lys2887Thr) c.6257A>C (p.Lys2086Thr)
2	g.237336438T>A	CA351191898	COL6A3	c.1307A>T c.8044A>T (p.Lys2682Ter) c.789A>T n.929A>T c.8662A>T (p.Lys2888Ter) c.6838A>T (p.Lys2280Ter) c.6841A>T (p.Lys2281Ter) n.5104A>T c.8062A>T (p.Lys2688Ter) c.7441A>T (p.Lys2481Ter) c.8161A>T (p.Lys2721Ter) c.8659A>T (p.Lys2887Ter) c.6256A>T (p.Lys2086Ter)
2	g.237336438T>C	CA351191897	COL6A3	c.1307A>G c.8044A>G (p.Lys2682Glu) c.789A>G n.929A>G c.8662A>G (p.Lys2888Glu) c.6838A>G (p.Lys2280Glu) c.6841A>G (p.Lys2281Glu) n.5104A>G c.8062A>G (p.Lys2688Glu) c.7441A>G (p.Lys2481Glu) c.8161A>G (p.Lys2721Glu) c.8659A>G (p.Lys2887Glu) c.6256A>G (p.Lys2086Glu)
2	g.237336438T>G	CA351191896	COL6A3	c.1307A>C c.8044A>C (p.Lys2682Gln) c.789A>C n.929A>C c.8662A>C (p.Lys2888Gln) c.6838A>C (p.Lys2280Gln) c.6841A>C (p.Lys2281Gln) n.5104A>C c.8062A>C (p.Lys2688Gln) c.7441A>C (p.Lys2481Gln) c.8161A>C (p.Lys2721Gln) c.8659A>C (p.Lys2887Gln) c.6256A>C (p.Lys2086Gln)
2	g.237336438_237336439insGGGGG	CA2754786758	COL6A3	c.1306_1307insCCCCC c.8043_8044insCCCCC (p.Lys2682ProfsTer5) c.788_789insCCCCC n.928_929insCCCCC c.8661_8662insCCCCC (p.Lys2888ProfsTer5) c.6837_6838insCCCCC (p.Lys2280ProfsTer5) c.6840_6841insCCCCC (p.Lys2281ProfsTer5) n.5103_5104insCCCCC c.8061_8062insCCCCC (p.Lys2688ProfsTer5) c.7440_7441insCCCCC (p.Lys2481ProfsTer5) c.8160_8161insCCCCC (p.Lys2721ProfsTer5) c.8658_8659insCCCCC (p.Lys2887ProfsTer5) c.6255_6256insCCCCC (p.Lys2086ProfsTer5)
2	g.237336439T>A	CA431702508	COL6A3	c.1306A>T c.8043A>T (p.Thr2681=) c.788A>T n.928A>T c.8661A>T (p.Thr2887=) c.6837A>T (p.Thr2279=) c.6840A>T (p.Thr2280=) n.5103A>T c.8061A>T (p.Thr2687=) c.7440A>T (p.Thr2480=) c.8160A>T (p.Thr2720=) c.8658A>T (p.Thr2886=) c.6255A>T (p.Thr2085=)
2	g.237336439T>C	CA431702509	COL6A3	c.1306A>G c.8043A>G (p.Thr2681=) c.788A>G n.928A>G c.8661A>G (p.Thr2887=) c.6837A>G (p.Thr2279=) c.6840A>G (p.Thr2280=) n.5103A>G c.8061A>G (p.Thr2687=) c.7440A>G (p.Thr2480=) c.8160A>G (p.Thr2720=) c.8658A>G (p.Thr2886=) c.6255A>G (p.Thr2085=)
2	g.237336439T>G	CA431702511	COL6A3	c.1306A>C c.8043A>C (p.Thr2681=) c.788A>C n.928A>C c.8661A>C (p.Thr2887=) c.6837A>C (p.Thr2279=) c.6840A>C (p.Thr2280=) n.5103A>C c.8061A>C (p.Thr2687=) c.7440A>C (p.Thr2480=) c.8160A>C (p.Thr2720=) c.8658A>C (p.Thr2886=) c.6255A>C (p.Thr2085=)
2	g.237336440G>A	CA2187471	COL6A3	c.1305C>T c.8042C>T (p.Thr2681Ile) c.787C>T n.927C>T c.8660C>T (p.Thr2887Ile) c.6836C>T (p.Thr2279Ile) c.6839C>T (p.Thr2280Ile) n.5102C>T c.8060C>T (p.Thr2687Ile) c.7439C>T (p.Thr2480Ile) c.8159C>T (p.Thr2720Ile) c.8657C>T (p.Thr2886Ile) c.6254C>T (p.Thr2085Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336440G>C	CA351191899	COL6A3	c.1305C>G c.8042C>G (p.Thr2681Arg) c.787C>G n.927C>G c.8660C>G (p.Thr2887Arg) c.6836C>G (p.Thr2279Arg) c.6839C>G (p.Thr2280Arg) n.5102C>G c.8060C>G (p.Thr2687Arg) c.7439C>G (p.Thr2480Arg) c.8159C>G (p.Thr2720Arg) c.8657C>G (p.Thr2886Arg) c.6254C>G (p.Thr2085Arg)
2	g.237336440G=	CA1337607199	COL6A3	c.1305C= c.8042C= (p.Thr2681=) c.787C= n.927C= c.8660C= (p.Thr2887=) c.6836C= (p.Thr2279=) c.6839C= (p.Thr2280=) n.5102C= c.8060C= (p.Thr2687=) c.7439C= (p.Thr2480=) c.8159C= (p.Thr2720=) c.8657C= (p.Thr2886=) c.6254C= (p.Thr2085=)
2	g.237336440G>T	CA351191900	COL6A3	c.1305C>A c.8042C>A (p.Thr2681Lys) c.787C>A n.927C>A c.8660C>A (p.Thr2887Lys) c.6836C>A (p.Thr2279Lys) c.6839C>A (p.Thr2280Lys) n.5102C>A c.8060C>A (p.Thr2687Lys) c.7439C>A (p.Thr2480Lys) c.8159C>A (p.Thr2720Lys) c.8657C>A (p.Thr2886Lys) c.6254C>A (p.Thr2085Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336441T>A	CA351191901	COL6A3	c.1304A>T c.8041A>T (p.Thr2681Ser) c.786A>T n.926A>T c.8659A>T (p.Thr2887Ser) c.6835A>T (p.Thr2279Ser) c.6838A>T (p.Thr2280Ser) n.5101A>T c.8059A>T (p.Thr2687Ser) c.7438A>T (p.Thr2480Ser) c.8158A>T (p.Thr2720Ser) c.8656A>T (p.Thr2886Ser) c.6253A>T (p.Thr2085Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.237336441T>C	CA351191902	COL6A3	c.1304A>G c.8041A>G (p.Thr2681Ala) c.786A>G n.926A>G c.8659A>G (p.Thr2887Ala) c.6835A>G (p.Thr2279Ala) c.6838A>G (p.Thr2280Ala) n.5101A>G c.8059A>G (p.Thr2687Ala) c.7438A>G (p.Thr2480Ala) c.8158A>G (p.Thr2720Ala) c.8656A>G (p.Thr2886Ala) c.6253A>G (p.Thr2085Ala)
2	g.237336441T>G	CA351191903	COL6A3	c.1304A>C c.8041A>C (p.Thr2681Pro) c.786A>C n.926A>C c.8659A>C (p.Thr2887Pro) c.6835A>C (p.Thr2279Pro) c.6838A>C (p.Thr2280Pro) n.5101A>C c.8059A>C (p.Thr2687Pro) c.7438A>C (p.Thr2480Pro) c.8158A>C (p.Thr2720Pro) c.8656A>C (p.Thr2886Pro) c.6253A>C (p.Thr2085Pro)
2	g.237336441T=	CA1337607200	COL6A3	c.1304A= c.8041A= (p.Thr2681=) c.786A= n.926A= c.8659A= (p.Thr2887=) c.6835A= (p.Thr2279=) c.6838A= (p.Thr2280=) n.5101A= c.8059A= (p.Thr2687=) c.7438A= (p.Thr2480=) c.8158A= (p.Thr2720=) c.8656A= (p.Thr2886=) c.6253A= (p.Thr2085=)
2	g.237336442T>A	CA431702523	COL6A3	c.1303A>T c.8040A>T (p.Thr2680=) c.785A>T n.925A>T c.8658A>T (p.Thr2886=) c.6834A>T (p.Thr2278=) c.6837A>T (p.Thr2279=) n.5100A>T c.8058A>T (p.Thr2686=) c.7437A>T (p.Thr2479=) c.8157A>T (p.Thr2719=) c.8655A>T (p.Thr2885=) c.6252A>T (p.Thr2084=)
2	g.237336442T>C	CA431702525	COL6A3	c.1303A>G c.8040A>G (p.Thr2680=) c.785A>G n.925A>G c.8658A>G (p.Thr2886=) c.6834A>G (p.Thr2278=) c.6837A>G (p.Thr2279=) n.5100A>G c.8058A>G (p.Thr2686=) c.7437A>G (p.Thr2479=) c.8157A>G (p.Thr2719=) c.8655A>G (p.Thr2885=) c.6252A>G (p.Thr2084=)
2	g.237336442T>G	CA431702527	COL6A3	c.1303A>C c.8040A>C (p.Thr2680=) c.785A>C n.925A>C c.8658A>C (p.Thr2886=) c.6834A>C (p.Thr2278=) c.6837A>C (p.Thr2279=) n.5100A>C c.8058A>C (p.Thr2686=) c.7437A>C (p.Thr2479=) c.8157A>C (p.Thr2719=) c.8655A>C (p.Thr2885=) c.6252A>C (p.Thr2084=)
2	g.237336443G>A	CA2187472	COL6A3	c.1302C>T c.8039C>T (p.Thr2680Ile) c.784C>T n.924C>T c.8657C>T (p.Thr2886Ile) c.6833C>T (p.Thr2278Ile) c.6836C>T (p.Thr2279Ile) n.5099C>T c.8057C>T (p.Thr2686Ile) c.7436C>T (p.Thr2479Ile) c.8156C>T (p.Thr2719Ile) c.8654C>T (p.Thr2885Ile) c.6251C>T (p.Thr2084Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336443G>C	CA351191904	COL6A3	c.1302C>G c.8039C>G (p.Thr2680Arg) c.784C>G n.924C>G c.8657C>G (p.Thr2886Arg) c.6833C>G (p.Thr2278Arg) c.6836C>G (p.Thr2279Arg) n.5099C>G c.8057C>G (p.Thr2686Arg) c.7436C>G (p.Thr2479Arg) c.8156C>G (p.Thr2719Arg) c.8654C>G (p.Thr2885Arg) c.6251C>G (p.Thr2084Arg)
2	g.237336443G=	CA1337607201	COL6A3	c.1302C= c.8039C= (p.Thr2680=) c.784C= n.924C= c.8657C= (p.Thr2886=) c.6833C= (p.Thr2278=) c.6836C= (p.Thr2279=) n.5099C= c.8057C= (p.Thr2686=) c.7436C= (p.Thr2479=) c.8156C= (p.Thr2719=) c.8654C= (p.Thr2885=) c.6251C= (p.Thr2084=)
2	g.237336443G>T	CA351191905	COL6A3	c.1302C>A c.8039C>A (p.Thr2680Lys) c.784C>A n.924C>A c.8657C>A (p.Thr2886Lys) c.6833C>A (p.Thr2278Lys) c.6836C>A (p.Thr2279Lys) n.5099C>A c.8057C>A (p.Thr2686Lys) c.7436C>A (p.Thr2479Lys) c.8156C>A (p.Thr2719Lys) c.8654C>A (p.Thr2885Lys) c.6251C>A (p.Thr2084Lys)	dbSNP
2	g.237336444T>A	CA351191906	COL6A3	c.1301A>T c.8038A>T (p.Thr2680Ser) c.783A>T n.923A>T c.8656A>T (p.Thr2886Ser) c.6832A>T (p.Thr2278Ser) c.6835A>T (p.Thr2279Ser) n.5098A>T c.8056A>T (p.Thr2686Ser) c.7435A>T (p.Thr2479Ser) c.8155A>T (p.Thr2719Ser) c.8653A>T (p.Thr2885Ser) c.6250A>T (p.Thr2084Ser)
2	g.237336444T>C	CA351191907	COL6A3	c.1301A>G c.8038A>G (p.Thr2680Ala) c.783A>G n.923A>G c.8656A>G (p.Thr2886Ala) c.6832A>G (p.Thr2278Ala) c.6835A>G (p.Thr2279Ala) n.5098A>G c.8056A>G (p.Thr2686Ala) c.7435A>G (p.Thr2479Ala) c.8155A>G (p.Thr2719Ala) c.8653A>G (p.Thr2885Ala) c.6250A>G (p.Thr2084Ala)
2	g.237336444T>G	CA351191908	COL6A3	c.1301A>C c.8038A>C (p.Thr2680Pro) c.783A>C n.923A>C c.8656A>C (p.Thr2886Pro) c.6832A>C (p.Thr2278Pro) c.6835A>C (p.Thr2279Pro) n.5098A>C c.8056A>C (p.Thr2686Pro) c.7435A>C (p.Thr2479Pro) c.8155A>C (p.Thr2719Pro) c.8653A>C (p.Thr2885Pro) c.6250A>C (p.Thr2084Pro)
2	g.237336445G>A	CA431702537	COL6A3	c.1300C>T c.8037C>T (p.Thr2679=) c.782C>T n.922C>T c.8655C>T (p.Thr2885=) c.6831C>T (p.Thr2277=) c.6834C>T (p.Thr2278=) n.5097C>T c.8055C>T (p.Thr2685=) c.7434C>T (p.Thr2478=) c.8154C>T (p.Thr2718=) c.8652C>T (p.Thr2884=) c.6249C>T (p.Thr2083=)	dbSNP gnomAD v2 gnomAD v4
2	g.237336445G>C	CA431702539	COL6A3	c.1300C>G c.8037C>G (p.Thr2679=) c.782C>G n.922C>G c.8655C>G (p.Thr2885=) c.6831C>G (p.Thr2277=) c.6834C>G (p.Thr2278=) n.5097C>G c.8055C>G (p.Thr2685=) c.7434C>G (p.Thr2478=) c.8154C>G (p.Thr2718=) c.8652C>G (p.Thr2884=) c.6249C>G (p.Thr2083=)
2	g.237336445G=	CA1337607202	COL6A3	c.1300C= c.8037C= (p.Thr2679=) c.782C= n.922C= c.8655C= (p.Thr2885=) c.6831C= (p.Thr2277=) c.6834C= (p.Thr2278=) n.5097C= c.8055C= (p.Thr2685=) c.7434C= (p.Thr2478=) c.8154C= (p.Thr2718=) c.8652C= (p.Thr2884=) c.6249C= (p.Thr2083=)
2	g.237336445G>T	CA431702541	COL6A3	c.1300C>A c.8037C>A (p.Thr2679=) c.782C>A n.922C>A c.8655C>A (p.Thr2885=) c.6831C>A (p.Thr2277=) c.6834C>A (p.Thr2278=) n.5097C>A c.8055C>A (p.Thr2685=) c.7434C>A (p.Thr2478=) c.8154C>A (p.Thr2718=) c.8652C>A (p.Thr2884=) c.6249C>A (p.Thr2083=)
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.237336445_237336446insTTGGGT	CA2754786760	COL6A3	c.1299_1300insACCCAA c.8036_8037insACCCAA (p.Thr2679_Thr2680insProAsn) c.781_782insACCCAA n.921_922insACCCAA c.8654_8655insACCCAA (p.Thr2885_Thr2886insProAsn) c.6830_6831insACCCAA (p.Thr2277_Thr2278insProAsn) c.6833_6834insACCCAA (p.Thr2278_Thr2279insProAsn) n.5096_5097insACCCAA c.8054_8055insACCCAA (p.Thr2685_Thr2686insProAsn) c.7433_7434insACCCAA (p.Thr2478_Thr2479insProAsn) c.8153_8154insACCCAA (p.Thr2718_Thr2719insProAsn) c.8651_8652insACCCAA (p.Thr2884_Thr2885insProAsn) c.6248_6249insACCCAA (p.Thr2083_Thr2084insProAsn)
2	g.237336446G>A	CA351191911	COL6A3	c.1299C>T c.8036C>T (p.Thr2679Ile) c.781C>T n.921C>T c.8654C>T (p.Thr2885Ile) c.6830C>T (p.Thr2277Ile) c.6833C>T (p.Thr2278Ile) n.5096C>T c.8054C>T (p.Thr2685Ile) c.7433C>T (p.Thr2478Ile) c.8153C>T (p.Thr2718Ile) c.8651C>T (p.Thr2884Ile) c.6248C>T (p.Thr2083Ile)	gnomAD v4
2	g.237336446G>C	CA351191910	COL6A3	c.1299C>G c.8036C>G (p.Thr2679Ser) c.781C>G n.921C>G c.8654C>G (p.Thr2885Ser) c.6830C>G (p.Thr2277Ser) c.6833C>G (p.Thr2278Ser) n.5096C>G c.8054C>G (p.Thr2685Ser) c.7433C>G (p.Thr2478Ser) c.8153C>G (p.Thr2718Ser) c.8651C>G (p.Thr2884Ser) c.6248C>G (p.Thr2083Ser)
2	g.237336446G>T	CA351191909	COL6A3	c.1299C>A c.8036C>A (p.Thr2679Asn) c.781C>A n.921C>A c.8654C>A (p.Thr2885Asn) c.6830C>A (p.Thr2277Asn) c.6833C>A (p.Thr2278Asn) n.5096C>A c.8054C>A (p.Thr2685Asn) c.7433C>A (p.Thr2478Asn) c.8153C>A (p.Thr2718Asn) c.8651C>A (p.Thr2884Asn) c.6248C>A (p.Thr2083Asn)
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.237336447T>A	CA351191912	COL6A3	c.1298A>T c.8035A>T (p.Thr2679Ser) c.780A>T n.920A>T c.8653A>T (p.Thr2885Ser) c.6829A>T (p.Thr2277Ser) c.6832A>T (p.Thr2278Ser) n.5095A>T c.8053A>T (p.Thr2685Ser) c.7432A>T (p.Thr2478Ser) c.8152A>T (p.Thr2718Ser) c.8650A>T (p.Thr2884Ser) c.6247A>T (p.Thr2083Ser)
2	g.237336447T>C	CA351191914	COL6A3	c.1298A>G c.8035A>G (p.Thr2679Ala) c.780A>G n.920A>G c.8653A>G (p.Thr2885Ala) c.6829A>G (p.Thr2277Ala) c.6832A>G (p.Thr2278Ala) n.5095A>G c.8053A>G (p.Thr2685Ala) c.7432A>G (p.Thr2478Ala) c.8152A>G (p.Thr2718Ala) c.8650A>G (p.Thr2884Ala) c.6247A>G (p.Thr2083Ala)	gnomAD v4
2	g.237336447T>G	CA351191913	COL6A3	c.1298A>C c.8035A>C (p.Thr2679Pro) c.780A>C n.920A>C c.8653A>C (p.Thr2885Pro) c.6829A>C (p.Thr2277Pro) c.6832A>C (p.Thr2278Pro) n.5095A>C c.8053A>C (p.Thr2685Pro) c.7432A>C (p.Thr2478Pro) c.8152A>C (p.Thr2718Pro) c.8650A>C (p.Thr2884Pro) c.6247A>C (p.Thr2083Pro)	COSMIC
2	g.237336448G>A	CA431702553	COL6A3	c.1297C>T c.8034C>T (p.Thr2678=) c.779C>T n.919C>T c.8652C>T (p.Thr2884=) c.6828C>T (p.Thr2276=) c.6831C>T (p.Thr2277=) n.5094C>T c.8052C>T (p.Thr2684=) c.7431C>T (p.Thr2477=) c.8151C>T (p.Thr2717=) c.8649C>T (p.Thr2883=) c.6246C>T (p.Thr2082=)	ClinVar
2	g.237336448G>C	CA431702556	COL6A3	c.1297C>G c.8034C>G (p.Thr2678=) c.779C>G n.919C>G c.8652C>G (p.Thr2884=) c.6828C>G (p.Thr2276=) c.6831C>G (p.Thr2277=) n.5094C>G c.8052C>G (p.Thr2684=) c.7431C>G (p.Thr2477=) c.8151C>G (p.Thr2717=) c.8649C>G (p.Thr2883=) c.6246C>G (p.Thr2082=)
2	g.237336448G>T	CA431702554	COL6A3	c.1297C>A c.8034C>A (p.Thr2678=) c.779C>A n.919C>A c.8652C>A (p.Thr2884=) c.6828C>A (p.Thr2276=) c.6831C>A (p.Thr2277=) n.5094C>A c.8052C>A (p.Thr2684=) c.7431C>A (p.Thr2477=) c.8151C>A (p.Thr2717=) c.8649C>A (p.Thr2883=) c.6246C>A (p.Thr2082=)
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.237336449G>A	CA2187474	COL6A3	c.1296C>T c.8033C>T (p.Thr2678Ile) c.778C>T n.918C>T c.8651C>T (p.Thr2884Ile) c.6827C>T (p.Thr2276Ile) c.6830C>T (p.Thr2277Ile) n.5093C>T c.8051C>T (p.Thr2684Ile) c.7430C>T (p.Thr2477Ile) c.8150C>T (p.Thr2717Ile) c.8648C>T (p.Thr2883Ile) c.6245C>T (p.Thr2082Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336449G>C	CA351191915	COL6A3	c.1296C>G c.8033C>G (p.Thr2678Ser) c.778C>G n.918C>G c.8651C>G (p.Thr2884Ser) c.6827C>G (p.Thr2276Ser) c.6830C>G (p.Thr2277Ser) n.5093C>G c.8051C>G (p.Thr2684Ser) c.7430C>G (p.Thr2477Ser) c.8150C>G (p.Thr2717Ser) c.8648C>G (p.Thr2883Ser) c.6245C>G (p.Thr2082Ser)
2	g.237336449G=	CA1337607205	COL6A3	c.1296C= c.8033C= (p.Thr2678=) c.778C= n.918C= c.8651C= (p.Thr2884=) c.6827C= (p.Thr2276=) c.6830C= (p.Thr2277=) n.5093C= c.8051C= (p.Thr2684=) c.7430C= (p.Thr2477=) c.8150C= (p.Thr2717=) c.8648C= (p.Thr2883=) c.6245C= (p.Thr2082=)
2	g.237336449G>T	CA351191916	COL6A3	c.1296C>A c.8033C>A (p.Thr2678Asn) c.778C>A n.918C>A c.8651C>A (p.Thr2884Asn) c.6827C>A (p.Thr2276Asn) c.6830C>A (p.Thr2277Asn) n.5093C>A c.8051C>A (p.Thr2684Asn) c.7430C>A (p.Thr2477Asn) c.8150C>A (p.Thr2717Asn) c.8648C>A (p.Thr2883Asn) c.6245C>A (p.Thr2082Asn)
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.237336449_237336450insGTGTGT	CA2754786762	COL6A3	c.1295_1296insACACAC c.8032_8033insACACAC (p.Thr2678delinsAsnThrPro) c.777_778insACACAC n.917_918insACACAC c.8650_8651insACACAC (p.Thr2884delinsAsnThrPro) c.6826_6827insACACAC (p.Thr2276delinsAsnThrPro) c.6829_6830insACACAC (p.Thr2277delinsAsnThrPro) n.5092_5093insACACAC c.8050_8051insACACAC (p.Thr2684delinsAsnThrPro) c.7429_7430insACACAC (p.Thr2477delinsAsnThrPro) c.8149_8150insACACAC (p.Thr2717delinsAsnThrPro) c.8647_8648insACACAC (p.Thr2883delinsAsnThrPro) c.6244_6245insACACAC (p.Thr2082delinsAsnThrPro)
2	g.237336450T>A	CA351191917	COL6A3	c.1295A>T c.8032A>T (p.Thr2678Ser) c.777A>T n.917A>T c.8650A>T (p.Thr2884Ser) c.6826A>T (p.Thr2276Ser) c.6829A>T (p.Thr2277Ser) n.5092A>T c.8050A>T (p.Thr2684Ser) c.7429A>T (p.Thr2477Ser) c.8149A>T (p.Thr2717Ser) c.8647A>T (p.Thr2883Ser) c.6244A>T (p.Thr2082Ser)
2	g.237336450T>C	CA351191918	COL6A3	c.1295A>G c.8032A>G (p.Thr2678Ala) c.777A>G n.917A>G c.8650A>G (p.Thr2884Ala) c.6826A>G (p.Thr2276Ala) c.6829A>G (p.Thr2277Ala) n.5092A>G c.8050A>G (p.Thr2684Ala) c.7429A>G (p.Thr2477Ala) c.8149A>G (p.Thr2717Ala) c.8647A>G (p.Thr2883Ala) c.6244A>G (p.Thr2082Ala)	gnomAD v4
2	g.237336450T>G	CA351191919	COL6A3	c.1295A>C c.8032A>C (p.Thr2678Pro) c.777A>C n.917A>C c.8650A>C (p.Thr2884Pro) c.6826A>C (p.Thr2276Pro) c.6829A>C (p.Thr2277Pro) n.5092A>C c.8050A>C (p.Thr2684Pro) c.7429A>C (p.Thr2477Pro) c.8149A>C (p.Thr2717Pro) c.8647A>C (p.Thr2883Pro) c.6244A>C (p.Thr2082Pro)	dbSNP
2	g.237336450T=	CA1337607206	COL6A3	c.1295A= c.8032A= (p.Thr2678=) c.777A= n.917A= c.8650A= (p.Thr2884=) c.6826A= (p.Thr2276=) c.6829A= (p.Thr2277=) n.5092A= c.8050A= (p.Thr2684=) c.7429A= (p.Thr2477=) c.8149A= (p.Thr2717=) c.8647A= (p.Thr2883=) c.6244A= (p.Thr2082=)
2	g.237336451C>A	CA431674888	COL6A3	c.1294G>T c.8031G>T (p.Val2677=) c.776G>T n.916G>T c.8649G>T (p.Val2883=) c.6825G>T (p.Val2275=) c.6828G>T (p.Val2276=) n.5091G>T c.8049G>T (p.Val2683=) c.7428G>T (p.Val2476=) c.8148G>T (p.Val2716=) c.8646G>T (p.Val2882=) c.6243G>T (p.Val2081=)
2	g.237336451C=	CA1337607207	COL6A3	c.1294G= c.8031G= (p.Val2677=) c.776G= n.916G= c.8649G= (p.Val2883=) c.6825G= (p.Val2275=) c.6828G= (p.Val2276=) n.5091G= c.8049G= (p.Val2683=) c.7428G= (p.Val2476=) c.8148G= (p.Val2716=) c.8646G= (p.Val2882=) c.6243G= (p.Val2081=)
2	g.237336451C>G	CA431674889	COL6A3	c.1294G>C c.8031G>C (p.Val2677=) c.776G>C n.916G>C c.8649G>C (p.Val2883=) c.6825G>C (p.Val2275=) c.6828G>C (p.Val2276=) n.5091G>C c.8049G>C (p.Val2683=) c.7428G>C (p.Val2476=) c.8148G>C (p.Val2716=) c.8646G>C (p.Val2882=) c.6243G>C (p.Val2081=)
2	g.237336451C>T	CA431674890	COL6A3	c.1294G>A c.8031G>A (p.Val2677=) c.776G>A n.916G>A c.8649G>A (p.Val2883=) c.6825G>A (p.Val2275=) c.6828G>A (p.Val2276=) n.5091G>A c.8049G>A (p.Val2683=) c.7428G>A (p.Val2476=) c.8148G>A (p.Val2716=) c.8646G>A (p.Val2882=) c.6243G>A (p.Val2081=)	dbSNP
2	g.237336452A=	CA1337607208	COL6A3	c.1293T= c.8030T= (p.Val2677=) c.775T= n.915T= c.8648T= (p.Val2883=) c.6824T= (p.Val2275=) c.6827T= (p.Val2276=) n.5090T= c.8048T= (p.Val2683=) c.7427T= (p.Val2476=) c.8147T= (p.Val2716=) c.8645T= (p.Val2882=) c.6242T= (p.Val2081=)
2	g.237336452A>C	CA351191920	COL6A3	c.1293T>G c.8030T>G (p.Val2677Gly) c.775T>G n.915T>G c.8648T>G (p.Val2883Gly) c.6824T>G (p.Val2275Gly) c.6827T>G (p.Val2276Gly) n.5090T>G c.8048T>G (p.Val2683Gly) c.7427T>G (p.Val2476Gly) c.8147T>G (p.Val2716Gly) c.8645T>G (p.Val2882Gly) c.6242T>G (p.Val2081Gly)
2	g.237336452A>G	CA2187475	COL6A3	c.1293T>C c.8030T>C (p.Val2677Ala) c.775T>C n.915T>C c.8648T>C (p.Val2883Ala) c.6824T>C (p.Val2275Ala) c.6827T>C (p.Val2276Ala) n.5090T>C c.8048T>C (p.Val2683Ala) c.7427T>C (p.Val2476Ala) c.8147T>C (p.Val2716Ala) c.8645T>C (p.Val2882Ala) c.6242T>C (p.Val2081Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336452A>T	CA351191921	COL6A3	c.1293T>A c.8030T>A (p.Val2677Glu) c.775T>A n.915T>A c.8648T>A (p.Val2883Glu) c.6824T>A (p.Val2275Glu) c.6827T>A (p.Val2276Glu) n.5090T>A c.8048T>A (p.Val2683Glu) c.7427T>A (p.Val2476Glu) c.8147T>A (p.Val2716Glu) c.8645T>A (p.Val2882Glu) c.6242T>A (p.Val2081Glu)
2	g.237336453C>A	CA351191922	COL6A3	c.1292G>T c.8029G>T (p.Val2677Leu) c.774G>T n.914G>T c.8647G>T (p.Val2883Leu) c.6823G>T (p.Val2275Leu) c.6826G>T (p.Val2276Leu) n.5089G>T c.8047G>T (p.Val2683Leu) c.7426G>T (p.Val2476Leu) c.8146G>T (p.Val2716Leu) c.8644G>T (p.Val2882Leu) c.6241G>T (p.Val2081Leu)
2	g.237336453C>G	CA351191923	COL6A3	c.1292G>C c.8029G>C (p.Val2677Leu) c.774G>C n.914G>C c.8647G>C (p.Val2883Leu) c.6823G>C (p.Val2275Leu) c.6826G>C (p.Val2276Leu) n.5089G>C c.8047G>C (p.Val2683Leu) c.7426G>C (p.Val2476Leu) c.8146G>C (p.Val2716Leu) c.8644G>C (p.Val2882Leu) c.6241G>C (p.Val2081Leu)
2	g.237336453C>T	CA351191924	COL6A3	c.1292G>A c.8029G>A (p.Val2677Met) c.774G>A n.914G>A c.8647G>A (p.Val2883Met) c.6823G>A (p.Val2275Met) c.6826G>A (p.Val2276Met) n.5089G>A c.8047G>A (p.Val2683Met) c.7426G>A (p.Val2476Met) c.8146G>A (p.Val2716Met) c.8644G>A (p.Val2882Met) c.6241G>A (p.Val2081Met)
2	g.237336454C>A	CA2187477	COL6A3	c.1291G>T c.8028G>T (p.Pro2676=) c.773G>T n.913G>T c.8646G>T (p.Pro2882=) c.6822G>T (p.Pro2274=) c.6825G>T (p.Pro2275=) n.5088G>T c.8046G>T (p.Pro2682=) c.7425G>T (p.Pro2475=) c.8145G>T (p.Pro2715=) c.8643G>T (p.Pro2881=) c.6240G>T (p.Pro2080=)	dbSNP ExAC gnomAD v2
2	g.237336454C=	CA1337607209	COL6A3	c.1291G= c.8028G= (p.Pro2676=) c.773G= n.913G= c.8646G= (p.Pro2882=) c.6822G= (p.Pro2274=) c.6825G= (p.Pro2275=) n.5088G= c.8046G= (p.Pro2682=) c.7425G= (p.Pro2475=) c.8145G= (p.Pro2715=) c.8643G= (p.Pro2881=) c.6240G= (p.Pro2080=)
2	g.237336454C>G	CA431674891	COL6A3	c.1291G>C c.8028G>C (p.Pro2676=) c.773G>C n.913G>C c.8646G>C (p.Pro2882=) c.6822G>C (p.Pro2274=) c.6825G>C (p.Pro2275=) n.5088G>C c.8046G>C (p.Pro2682=) c.7425G>C (p.Pro2475=) c.8145G>C (p.Pro2715=) c.8643G>C (p.Pro2881=) c.6240G>C (p.Pro2080=)
2	g.237336454C>T	CA2187476	COL6A3	c.1291G>A c.8028G>A (p.Pro2676=) c.773G>A n.913G>A c.8646G>A (p.Pro2882=) c.6822G>A (p.Pro2274=) c.6825G>A (p.Pro2275=) n.5088G>A c.8046G>A (p.Pro2682=) c.7425G>A (p.Pro2475=) c.8145G>A (p.Pro2715=) c.8643G>A (p.Pro2881=) c.6240G>A (p.Pro2080=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336455G>A	CA2187478	COL6A3	c.1290C>T c.8027C>T (p.Pro2676Leu) c.772C>T n.912C>T c.8645C>T (p.Pro2882Leu) c.6821C>T (p.Pro2274Leu) c.6824C>T (p.Pro2275Leu) n.5087C>T c.8045C>T (p.Pro2682Leu) c.7424C>T (p.Pro2475Leu) c.8144C>T (p.Pro2715Leu) c.8642C>T (p.Pro2881Leu) c.6239C>T (p.Pro2080Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.237336455G>C	CA351191925	COL6A3	c.1290C>G c.8027C>G (p.Pro2676Arg) c.772C>G n.912C>G c.8645C>G (p.Pro2882Arg) c.6821C>G (p.Pro2274Arg) c.6824C>G (p.Pro2275Arg) n.5087C>G c.8045C>G (p.Pro2682Arg) c.7424C>G (p.Pro2475Arg) c.8144C>G (p.Pro2715Arg) c.8642C>G (p.Pro2881Arg) c.6239C>G (p.Pro2080Arg)
2	g.237336455G=	CA1337607210	COL6A3	c.1290C= c.8027C= (p.Pro2676=) c.772C= n.912C= c.8645C= (p.Pro2882=) c.6821C= (p.Pro2274=) c.6824C= (p.Pro2275=) n.5087C= c.8045C= (p.Pro2682=) c.7424C= (p.Pro2475=) c.8144C= (p.Pro2715=) c.8642C= (p.Pro2881=) c.6239C= (p.Pro2080=)
2	g.237336455G>T	CA351191926	COL6A3	c.1290C>A c.8027C>A (p.Pro2676Gln) c.772C>A n.912C>A c.8645C>A (p.Pro2882Gln) c.6821C>A (p.Pro2274Gln) c.6824C>A (p.Pro2275Gln) n.5087C>A c.8045C>A (p.Pro2682Gln) c.7424C>A (p.Pro2475Gln) c.8144C>A (p.Pro2715Gln) c.8642C>A (p.Pro2881Gln) c.6239C>A (p.Pro2080Gln)
2	g.237336456G>A	CA351191927	COL6A3	c.1289C>T c.8026C>T (p.Pro2676Ser) c.771C>T n.911C>T c.8644C>T (p.Pro2882Ser) c.6820C>T (p.Pro2274Ser) c.6823C>T (p.Pro2275Ser) n.5086C>T c.8044C>T (p.Pro2682Ser) c.7423C>T (p.Pro2475Ser) c.8143C>T (p.Pro2715Ser) c.8641C>T (p.Pro2881Ser) c.6238C>T (p.Pro2080Ser)	ClinVar dbSNP gnomAD v4
2	g.237336456G>C	CA351191928	COL6A3	c.1289C>G c.8026C>G (p.Pro2676Ala) c.771C>G n.911C>G c.8644C>G (p.Pro2882Ala) c.6820C>G (p.Pro2274Ala) c.6823C>G (p.Pro2275Ala) n.5086C>G c.8044C>G (p.Pro2682Ala) c.7423C>G (p.Pro2475Ala) c.8143C>G (p.Pro2715Ala) c.8641C>G (p.Pro2881Ala) c.6238C>G (p.Pro2080Ala)
2	g.237336456G=	CA1337607211	COL6A3	c.1289C= c.8026C= (p.Pro2676=) c.771C= n.911C= c.8644C= (p.Pro2882=) c.6820C= (p.Pro2274=) c.6823C= (p.Pro2275=) n.5086C= c.8044C= (p.Pro2682=) c.7423C= (p.Pro2475=) c.8143C= (p.Pro2715=) c.8641C= (p.Pro2881=) c.6238C= (p.Pro2080=)
2	g.237336456G>T	CA351191929	COL6A3	c.1289C>A c.8026C>A (p.Pro2676Thr) c.771C>A n.911C>A c.8644C>A (p.Pro2882Thr) c.6820C>A (p.Pro2274Thr) c.6823C>A (p.Pro2275Thr) n.5086C>A c.8044C>A (p.Pro2682Thr) c.7423C>A (p.Pro2475Thr) c.8143C>A (p.Pro2715Thr) c.8641C>A (p.Pro2881Thr) c.6238C>A (p.Pro2080Thr)
2	g.237336457C>A	CA351191930	COL6A3	c.1288G>T c.8025G>T (p.Lys2675Asn) c.770G>T n.910G>T c.8643G>T (p.Lys2881Asn) c.6819G>T (p.Lys2273Asn) c.6822G>T (p.Lys2274Asn) n.5085G>T c.8043G>T (p.Lys2681Asn) c.7422G>T (p.Lys2474Asn) c.8142G>T (p.Lys2714Asn) c.8640G>T (p.Lys2880Asn) c.6237G>T (p.Lys2079Asn)
2	g.237336457C>G	CA351191931	COL6A3	c.1288G>C c.8025G>C (p.Lys2675Asn) c.770G>C n.910G>C c.8643G>C (p.Lys2881Asn) c.6819G>C (p.Lys2273Asn) c.6822G>C (p.Lys2274Asn) n.5085G>C c.8043G>C (p.Lys2681Asn) c.7422G>C (p.Lys2474Asn) c.8142G>C (p.Lys2714Asn) c.8640G>C (p.Lys2880Asn) c.6237G>C (p.Lys2079Asn)
2	g.237336457C>T	CA431674892	COL6A3	c.1288G>A c.8025G>A (p.Lys2675=) c.770G>A n.910G>A c.8643G>A (p.Lys2881=) c.6819G>A (p.Lys2273=) c.6822G>A (p.Lys2274=) n.5085G>A c.8043G>A (p.Lys2681=) c.7422G>A (p.Lys2474=) c.8142G>A (p.Lys2714=) c.8640G>A (p.Lys2880=) c.6237G>A (p.Lys2079=)
2	g.237336458T>A	CA351191932	COL6A3	c.1287A>T c.8024A>T (p.Lys2675Met) c.769A>T n.909A>T c.8642A>T (p.Lys2881Met) c.6818A>T (p.Lys2273Met) c.6821A>T (p.Lys2274Met) n.5084A>T c.8042A>T (p.Lys2681Met) c.7421A>T (p.Lys2474Met) c.8141A>T (p.Lys2714Met) c.8639A>T (p.Lys2880Met) c.6236A>T (p.Lys2079Met)
2	g.237336458T>C	CA351191933	COL6A3	c.1287A>G c.8024A>G (p.Lys2675Arg) c.769A>G n.909A>G c.8642A>G (p.Lys2881Arg) c.6818A>G (p.Lys2273Arg) c.6821A>G (p.Lys2274Arg) n.5084A>G c.8042A>G (p.Lys2681Arg) c.7421A>G (p.Lys2474Arg) c.8141A>G (p.Lys2714Arg) c.8639A>G (p.Lys2880Arg) c.6236A>G (p.Lys2079Arg)
2	g.237336458T>G	CA351191934	COL6A3	c.1287A>C c.8024A>C (p.Lys2675Thr) c.769A>C n.909A>C c.8642A>C (p.Lys2881Thr) c.6818A>C (p.Lys2273Thr) c.6821A>C (p.Lys2274Thr) n.5084A>C c.8042A>C (p.Lys2681Thr) c.7421A>C (p.Lys2474Thr) c.8141A>C (p.Lys2714Thr) c.8639A>C (p.Lys2880Thr) c.6236A>C (p.Lys2079Thr)
2	g.237336459T>A	CA351191935	COL6A3	c.1286A>T c.8023A>T (p.Lys2675Ter) c.768A>T n.908A>T c.8641A>T (p.Lys2881Ter) c.6817A>T (p.Lys2273Ter) c.6820A>T (p.Lys2274Ter) n.5083A>T c.8041A>T (p.Lys2681Ter) c.7420A>T (p.Lys2474Ter) c.8140A>T (p.Lys2714Ter) c.8638A>T (p.Lys2880Ter) c.6235A>T (p.Lys2079Ter)
2	g.237336459T>C	CA351191936	COL6A3	c.1286A>G c.8023A>G (p.Lys2675Glu) c.768A>G n.908A>G c.8641A>G (p.Lys2881Glu) c.6817A>G (p.Lys2273Glu) c.6820A>G (p.Lys2274Glu) n.5083A>G c.8041A>G (p.Lys2681Glu) c.7420A>G (p.Lys2474Glu) c.8140A>G (p.Lys2714Glu) c.8638A>G (p.Lys2880Glu) c.6235A>G (p.Lys2079Glu)
2	g.237336459T>G	CA351191937	COL6A3	c.1286A>C c.8023A>C (p.Lys2675Gln) c.768A>C n.908A>C c.8641A>C (p.Lys2881Gln) c.6817A>C (p.Lys2273Gln) c.6820A>C (p.Lys2274Gln) n.5083A>C c.8041A>C (p.Lys2681Gln) c.7420A>C (p.Lys2474Gln) c.8140A>C (p.Lys2714Gln) c.8638A>C (p.Lys2880Gln) c.6235A>C (p.Lys2079Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336459T=	CA1337607212	COL6A3	c.1286A= c.8023A= (p.Lys2675=) c.768A= n.908A= c.8641A= (p.Lys2881=) c.6817A= (p.Lys2273=) c.6820A= (p.Lys2274=) n.5083A= c.8041A= (p.Lys2681=) c.7420A= (p.Lys2474=) c.8140A= (p.Lys2714=) c.8638A= (p.Lys2880=) c.6235A= (p.Lys2079=)
2	g.237336460C>A	CA431674893	COL6A3	c.1285G>T c.8022G>T (p.Thr2674=) c.767G>T n.907G>T c.8640G>T (p.Thr2880=) c.6816G>T (p.Thr2272=) c.6819G>T (p.Thr2273=) n.5082G>T c.8040G>T (p.Thr2680=) c.7419G>T (p.Thr2473=) c.8139G>T (p.Thr2713=) c.8637G>T (p.Thr2879=) c.6234G>T (p.Thr2078=)
2	g.237336460C=	CA1337607213	COL6A3	c.1285G= c.8022G= (p.Thr2674=) c.767G= n.907G= c.8640G= (p.Thr2880=) c.6816G= (p.Thr2272=) c.6819G= (p.Thr2273=) n.5082G= c.8040G= (p.Thr2680=) c.7419G= (p.Thr2473=) c.8139G= (p.Thr2713=) c.8637G= (p.Thr2879=) c.6234G= (p.Thr2078=)
2	g.237336460C>G	CA431674894	COL6A3	c.1285G>C c.8022G>C (p.Thr2674=) c.767G>C n.907G>C c.8640G>C (p.Thr2880=) c.6816G>C (p.Thr2272=) c.6819G>C (p.Thr2273=) n.5082G>C c.8040G>C (p.Thr2680=) c.7419G>C (p.Thr2473=) c.8139G>C (p.Thr2713=) c.8637G>C (p.Thr2879=) c.6234G>C (p.Thr2078=)	ClinVar dbSNP gnomAD v4
2	g.237336460C>T	CA2187479	COL6A3	c.1285G>A c.8022G>A (p.Thr2674=) c.767G>A n.907G>A c.8640G>A (p.Thr2880=) c.6816G>A (p.Thr2272=) c.6819G>A (p.Thr2273=) n.5082G>A c.8040G>A (p.Thr2680=) c.7419G>A (p.Thr2473=) c.8139G>A (p.Thr2713=) c.8637G>A (p.Thr2879=) c.6234G>A (p.Thr2078=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.237336461G>A	CA2187480	COL6A3	c.1284C>T c.8021C>T (p.Thr2674Met) c.766C>T n.906C>T c.8639C>T (p.Thr2880Met) c.6815C>T (p.Thr2272Met) c.6818C>T (p.Thr2273Met) n.5081C>T c.8039C>T (p.Thr2680Met) c.7418C>T (p.Thr2473Met) c.8138C>T (p.Thr2713Met) c.8636C>T (p.Thr2879Met) c.6233C>T (p.Thr2078Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.237336461G>C	CA351191938	COL6A3	c.1284C>G c.8021C>G (p.Thr2674Arg) c.766C>G n.906C>G c.8639C>G (p.Thr2880Arg) c.6815C>G (p.Thr2272Arg) c.6818C>G (p.Thr2273Arg) n.5081C>G c.8039C>G (p.Thr2680Arg) c.7418C>G (p.Thr2473Arg) c.8138C>G (p.Thr2713Arg) c.8636C>G (p.Thr2879Arg) c.6233C>G (p.Thr2078Arg)
2	g.237336461G=	CA1337607214	COL6A3	c.1284C= c.8021C= (p.Thr2674=) c.766C= n.906C= c.8639C= (p.Thr2880=) c.6815C= (p.Thr2272=) c.6818C= (p.Thr2273=) n.5081C= c.8039C= (p.Thr2680=) c.7418C= (p.Thr2473=) c.8138C= (p.Thr2713=) c.8636C= (p.Thr2879=) c.6233C= (p.Thr2078=)
2	g.237336461G>T	CA351191939	COL6A3	c.1284C>A c.8021C>A (p.Thr2674Lys) c.766C>A n.906C>A c.8639C>A (p.Thr2880Lys) c.6815C>A (p.Thr2272Lys) c.6818C>A (p.Thr2273Lys) n.5081C>A c.8039C>A (p.Thr2680Lys) c.7418C>A (p.Thr2473Lys) c.8138C>A (p.Thr2713Lys) c.8636C>A (p.Thr2879Lys) c.6233C>A (p.Thr2078Lys)
2	g.237336462T>A	CA351191940	COL6A3	c.1283A>T c.8020A>T (p.Thr2674Ser) c.765A>T n.905A>T c.8638A>T (p.Thr2880Ser) c.6814A>T (p.Thr2272Ser) c.6817A>T (p.Thr2273Ser) n.5080A>T c.8038A>T (p.Thr2680Ser) c.7417A>T (p.Thr2473Ser) c.8137A>T (p.Thr2713Ser) c.8635A>T (p.Thr2879Ser) c.6232A>T (p.Thr2078Ser)
2	g.237336462T>C	CA351191941	COL6A3	c.1283A>G c.8020A>G (p.Thr2674Ala) c.765A>G n.905A>G c.8638A>G (p.Thr2880Ala) c.6814A>G (p.Thr2272Ala) c.6817A>G (p.Thr2273Ala) n.5080A>G c.8038A>G (p.Thr2680Ala) c.7417A>G (p.Thr2473Ala) c.8137A>G (p.Thr2713Ala) c.8635A>G (p.Thr2879Ala) c.6232A>G (p.Thr2078Ala)	gnomAD v4
2	g.237336462T>G	CA351191942	COL6A3	c.1283A>C c.8020A>C (p.Thr2674Pro) c.765A>C n.905A>C c.8638A>C (p.Thr2880Pro) c.6814A>C (p.Thr2272Pro) c.6817A>C (p.Thr2273Pro) n.5080A>C c.8038A>C (p.Thr2680Pro) c.7417A>C (p.Thr2473Pro) c.8137A>C (p.Thr2713Pro) c.8635A>C (p.Thr2879Pro) c.6232A>C (p.Thr2078Pro)
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

Number of alleles fetched