Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237366932C>ACA351187861COL6A3c.4637G>T (p.Gly1546Val)
c.5255G>T (p.Gly1752Val)
c.3434G>T (p.Gly1145Val)
c.4655G>T (p.Gly1552Val)
c.4034G>T (p.Gly1345Val)
c.4754G>T (p.Gly1585Val)
c.5252G>T (p.Gly1751Val)
c.2849G>T (p.Gly950Val)
2g.237366932C>GCA351187860COL6A3c.4637G>C (p.Gly1546Ala)
c.5255G>C (p.Gly1752Ala)
c.3434G>C (p.Gly1145Ala)
c.4655G>C (p.Gly1552Ala)
c.4034G>C (p.Gly1345Ala)
c.4754G>C (p.Gly1585Ala)
c.5252G>C (p.Gly1751Ala)
c.2849G>C (p.Gly950Ala)
2g.237366932C>TCA351187859COL6A3c.4637G>A (p.Gly1546Glu)
c.5255G>A (p.Gly1752Glu)
c.3434G>A (p.Gly1145Glu)
c.4655G>A (p.Gly1552Glu)
c.4034G>A (p.Gly1345Glu)
c.4754G>A (p.Gly1585Glu)
c.5252G>A (p.Gly1751Glu)
c.2849G>A (p.Gly950Glu)
 COSMIC
2g.237366933C>ACA351187862COL6A3c.4636G>T (p.Gly1546Ter)
c.5254G>T (p.Gly1752Ter)
c.3433G>T (p.Gly1145Ter)
c.4654G>T (p.Gly1552Ter)
c.4033G>T (p.Gly1345Ter)
c.4753G>T (p.Gly1585Ter)
c.5251G>T (p.Gly1751Ter)
c.2848G>T (p.Gly950Ter)
2g.237366933C>GCA351187864COL6A3c.4636G>C (p.Gly1546Arg)
c.5254G>C (p.Gly1752Arg)
c.3433G>C (p.Gly1145Arg)
c.4654G>C (p.Gly1552Arg)
c.4033G>C (p.Gly1345Arg)
c.4753G>C (p.Gly1585Arg)
c.5251G>C (p.Gly1751Arg)
c.2848G>C (p.Gly950Arg)
2g.237366933C>TCA351187863COL6A3c.4636G>A (p.Gly1546Arg)
c.5254G>A (p.Gly1752Arg)
c.3433G>A (p.Gly1145Arg)
c.4654G>A (p.Gly1552Arg)
c.4033G>A (p.Gly1345Arg)
c.4753G>A (p.Gly1585Arg)
c.5251G>A (p.Gly1751Arg)
c.2848G>A (p.Gly950Arg)
2g.237366934C>ACA431710637COL6A3c.4635G>T (p.Thr1545=)
c.5253G>T (p.Thr1751=)
c.3432G>T (p.Thr1144=)
c.4653G>T (p.Thr1551=)
c.4032G>T (p.Thr1344=)
c.4752G>T (p.Thr1584=)
c.5250G>T (p.Thr1750=)
c.2847G>T (p.Thr949=)
2g.237366934C=CA1337620967COL6A3c.4635G= (p.Thr1545=)
c.5253G= (p.Thr1751=)
c.3432G= (p.Thr1144=)
c.4653G= (p.Thr1551=)
c.4032G= (p.Thr1344=)
c.4752G= (p.Thr1584=)
c.5250G= (p.Thr1750=)
c.2847G= (p.Thr949=)
2g.237366934C>GCA431710638COL6A3c.4635G>C (p.Thr1545=)
c.5253G>C (p.Thr1751=)
c.3432G>C (p.Thr1144=)
c.4653G>C (p.Thr1551=)
c.4032G>C (p.Thr1344=)
c.4752G>C (p.Thr1584=)
c.5250G>C (p.Thr1750=)
c.2847G>C (p.Thr949=)
2g.237366934C>TCA10605201COL6A3c.4635G>A (p.Thr1545=)
c.5253G>A (p.Thr1751=)
c.3432G>A (p.Thr1144=)
c.4653G>A (p.Thr1551=)
c.4032G>A (p.Thr1344=)
c.4752G>A (p.Thr1584=)
c.5250G>A (p.Thr1750=)
c.2847G>A (p.Thr949=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237366935G>ACA2188712COL6A3c.4634C>T (p.Thr1545Met)
c.5252C>T (p.Thr1751Met)
c.3431C>T (p.Thr1144Met)
c.4652C>T (p.Thr1551Met)
c.4031C>T (p.Thr1344Met)
c.4751C>T (p.Thr1584Met)
c.5249C>T (p.Thr1750Met)
c.2846C>T (p.Thr949Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366935G>CCA351187865COL6A3c.4634C>G (p.Thr1545Arg)
c.5252C>G (p.Thr1751Arg)
c.3431C>G (p.Thr1144Arg)
c.4652C>G (p.Thr1551Arg)
c.4031C>G (p.Thr1344Arg)
c.4751C>G (p.Thr1584Arg)
c.5249C>G (p.Thr1750Arg)
c.2846C>G (p.Thr949Arg)
2g.237366935G=CA1337620968COL6A3c.4634C= (p.Thr1545=)
c.5252C= (p.Thr1751=)
c.3431C= (p.Thr1144=)
c.4652C= (p.Thr1551=)
c.4031C= (p.Thr1344=)
c.4751C= (p.Thr1584=)
c.5249C= (p.Thr1750=)
c.2846C= (p.Thr949=)
2g.237366935G>TCA351187866COL6A3c.4634C>A (p.Thr1545Lys)
c.5252C>A (p.Thr1751Lys)
c.3431C>A (p.Thr1144Lys)
c.4652C>A (p.Thr1551Lys)
c.4031C>A (p.Thr1344Lys)
c.4751C>A (p.Thr1584Lys)
c.5249C>A (p.Thr1750Lys)
c.2846C>A (p.Thr949Lys)
2g.237366936T>ACA351187867COL6A3c.4633A>T (p.Thr1545Ser)
c.5251A>T (p.Thr1751Ser)
c.3430A>T (p.Thr1144Ser)
c.4651A>T (p.Thr1551Ser)
c.4030A>T (p.Thr1344Ser)
c.4750A>T (p.Thr1584Ser)
c.5248A>T (p.Thr1750Ser)
c.2845A>T (p.Thr949Ser)
 dbSNP
2g.237366936T>CCA351187869COL6A3c.4633A>G (p.Thr1545Ala)
c.5251A>G (p.Thr1751Ala)
c.3430A>G (p.Thr1144Ala)
c.4651A>G (p.Thr1551Ala)
c.4030A>G (p.Thr1344Ala)
c.4750A>G (p.Thr1584Ala)
c.5248A>G (p.Thr1750Ala)
c.2845A>G (p.Thr949Ala)
 gnomAD v4
2g.237366936T>GCA351187868COL6A3c.4633A>C (p.Thr1545Pro)
c.5251A>C (p.Thr1751Pro)
c.3430A>C (p.Thr1144Pro)
c.4651A>C (p.Thr1551Pro)
c.4030A>C (p.Thr1344Pro)
c.4750A>C (p.Thr1584Pro)
c.5248A>C (p.Thr1750Pro)
c.2845A>C (p.Thr949Pro)
2g.237366937G>ACA431710639COL6A3c.4632C>T (p.Ile1544=)
c.5250C>T (p.Ile1750=)
c.3429C>T (p.Ile1143=)
c.4650C>T (p.Ile1550=)
c.4029C>T (p.Ile1343=)
c.4749C>T (p.Ile1583=)
c.5247C>T (p.Ile1749=)
c.2844C>T (p.Ile948=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.237366937G>CCA351187870COL6A3c.4632C>G (p.Ile1544Met)
c.5250C>G (p.Ile1750Met)
c.3429C>G (p.Ile1143Met)
c.4650C>G (p.Ile1550Met)
c.4029C>G (p.Ile1343Met)
c.4749C>G (p.Ile1583Met)
c.5247C>G (p.Ile1749Met)
c.2844C>G (p.Ile948Met)
2g.237366937G=CA1337620969COL6A3c.4632C= (p.Ile1544=)
c.5250C= (p.Ile1750=)
c.3429C= (p.Ile1143=)
c.4650C= (p.Ile1550=)
c.4029C= (p.Ile1343=)
c.4749C= (p.Ile1583=)
c.5247C= (p.Ile1749=)
c.2844C= (p.Ile948=)
2g.237366937G>TCA431710640COL6A3c.4632C>A (p.Ile1544=)
c.5250C>A (p.Ile1750=)
c.3429C>A (p.Ile1143=)
c.4650C>A (p.Ile1550=)
c.4029C>A (p.Ile1343=)
c.4749C>A (p.Ile1583=)
c.5247C>A (p.Ile1749=)
c.2844C>A (p.Ile948=)
2g.237366938A>CCA351187871COL6A3c.4631T>G (p.Ile1544Ser)
c.5249T>G (p.Ile1750Ser)
c.3428T>G (p.Ile1143Ser)
c.4649T>G (p.Ile1550Ser)
c.4028T>G (p.Ile1343Ser)
c.4748T>G (p.Ile1583Ser)
c.5246T>G (p.Ile1749Ser)
c.2843T>G (p.Ile948Ser)
2g.237366938A>GCA351187872COL6A3c.4631T>C (p.Ile1544Thr)
c.5249T>C (p.Ile1750Thr)
c.3428T>C (p.Ile1143Thr)
c.4649T>C (p.Ile1550Thr)
c.4028T>C (p.Ile1343Thr)
c.4748T>C (p.Ile1583Thr)
c.5246T>C (p.Ile1749Thr)
c.2843T>C (p.Ile948Thr)
 gnomAD v4
2g.237366938A>TCA351187873COL6A3c.4631T>A (p.Ile1544Asn)
c.5249T>A (p.Ile1750Asn)
c.3428T>A (p.Ile1143Asn)
c.4649T>A (p.Ile1550Asn)
c.4028T>A (p.Ile1343Asn)
c.4748T>A (p.Ile1583Asn)
c.5246T>A (p.Ile1749Asn)
c.2843T>A (p.Ile948Asn)
2g.237366939T>ACA351187874COL6A3c.4630A>T (p.Ile1544Phe)
c.5248A>T (p.Ile1750Phe)
c.3427A>T (p.Ile1143Phe)
c.4648A>T (p.Ile1550Phe)
c.4027A>T (p.Ile1343Phe)
c.4747A>T (p.Ile1583Phe)
c.5245A>T (p.Ile1749Phe)
c.2842A>T (p.Ile948Phe)
2g.237366939T>CCA351187875COL6A3c.4630A>G (p.Ile1544Val)
c.5248A>G (p.Ile1750Val)
c.3427A>G (p.Ile1143Val)
c.4648A>G (p.Ile1550Val)
c.4027A>G (p.Ile1343Val)
c.4747A>G (p.Ile1583Val)
c.5245A>G (p.Ile1749Val)
c.2842A>G (p.Ile948Val)
2g.237366939T>GCA351187876COL6A3c.4630A>C (p.Ile1544Leu)
c.5248A>C (p.Ile1750Leu)
c.3427A>C (p.Ile1143Leu)
c.4648A>C (p.Ile1550Leu)
c.4027A>C (p.Ile1343Leu)
c.4747A>C (p.Ile1583Leu)
c.5245A>C (p.Ile1749Leu)
c.2842A>C (p.Ile948Leu)
2g.237366940C>ACA431710641COL6A3c.4629G>T (p.Val1543=)
c.5247G>T (p.Val1749=)
c.3426G>T (p.Val1142=)
c.4647G>T (p.Val1549=)
c.4026G>T (p.Val1342=)
c.4746G>T (p.Val1582=)
c.5244G>T (p.Val1748=)
c.2841G>T (p.Val947=)
2g.237366940C>GCA431710643COL6A3c.4629G>C (p.Val1543=)
c.5247G>C (p.Val1749=)
c.3426G>C (p.Val1142=)
c.4647G>C (p.Val1549=)
c.4026G>C (p.Val1342=)
c.4746G>C (p.Val1582=)
c.5244G>C (p.Val1748=)
c.2841G>C (p.Val947=)
2g.237366940C>TCA431710642COL6A3c.4629G>A (p.Val1543=)
c.5247G>A (p.Val1749=)
c.3426G>A (p.Val1142=)
c.4647G>A (p.Val1549=)
c.4026G>A (p.Val1342=)
c.4746G>A (p.Val1582=)
c.5244G>A (p.Val1748=)
c.2841G>A (p.Val947=)
2g.237366941A>CCA351187877COL6A3c.4628T>G (p.Val1543Gly)
c.5246T>G (p.Val1749Gly)
c.3425T>G (p.Val1142Gly)
c.4646T>G (p.Val1549Gly)
c.4025T>G (p.Val1342Gly)
c.4745T>G (p.Val1582Gly)
c.5243T>G (p.Val1748Gly)
c.2840T>G (p.Val947Gly)
2g.237366941A>GCA351187878COL6A3c.4628T>C (p.Val1543Ala)
c.5246T>C (p.Val1749Ala)
c.3425T>C (p.Val1142Ala)
c.4646T>C (p.Val1549Ala)
c.4025T>C (p.Val1342Ala)
c.4745T>C (p.Val1582Ala)
c.5243T>C (p.Val1748Ala)
c.2840T>C (p.Val947Ala)
2g.237366941A>TCA351187879COL6A3c.4628T>A (p.Val1543Glu)
c.5246T>A (p.Val1749Glu)
c.3425T>A (p.Val1142Glu)
c.4646T>A (p.Val1549Glu)
c.4025T>A (p.Val1342Glu)
c.4745T>A (p.Val1582Glu)
c.5243T>A (p.Val1748Glu)
c.2840T>A (p.Val947Glu)
2g.237366942C>ACA351187880COL6A3c.4627G>T (p.Val1543Leu)
c.5245G>T (p.Val1749Leu)
c.3424G>T (p.Val1142Leu)
c.4645G>T (p.Val1549Leu)
c.4024G>T (p.Val1342Leu)
c.4744G>T (p.Val1582Leu)
c.5242G>T (p.Val1748Leu)
c.2839G>T (p.Val947Leu)
2g.237366942C>GCA351187881COL6A3c.4627G>C (p.Val1543Leu)
c.5245G>C (p.Val1749Leu)
c.3424G>C (p.Val1142Leu)
c.4645G>C (p.Val1549Leu)
c.4024G>C (p.Val1342Leu)
c.4744G>C (p.Val1582Leu)
c.5242G>C (p.Val1748Leu)
c.2839G>C (p.Val947Leu)
2g.237366942C>TCA351187882COL6A3c.4627G>A (p.Val1543Met)
c.5245G>A (p.Val1749Met)
c.3424G>A (p.Val1142Met)
c.4645G>A (p.Val1549Met)
c.4024G>A (p.Val1342Met)
c.4744G>A (p.Val1582Met)
c.5242G>A (p.Val1748Met)
c.2839G>A (p.Val947Met)
2g.237366943A=CA1337620970COL6A3c.4626T= (p.Phe1542=)
c.5244T= (p.Phe1748=)
c.3423T= (p.Phe1141=)
c.4644T= (p.Phe1548=)
c.4023T= (p.Phe1341=)
c.4743T= (p.Phe1581=)
c.5241T= (p.Phe1747=)
c.2838T= (p.Phe946=)
2g.237366943A>CCA351187883COL6A3c.4626T>G (p.Phe1542Leu)
c.5244T>G (p.Phe1748Leu)
c.3423T>G (p.Phe1141Leu)
c.4644T>G (p.Phe1548Leu)
c.4023T>G (p.Phe1341Leu)
c.4743T>G (p.Phe1581Leu)
c.5241T>G (p.Phe1747Leu)
c.2838T>G (p.Phe946Leu)
2g.237366943A>GCA431710644COL6A3c.4626T>C (p.Phe1542=)
c.5244T>C (p.Phe1748=)
c.3423T>C (p.Phe1141=)
c.4644T>C (p.Phe1548=)
c.4023T>C (p.Phe1341=)
c.4743T>C (p.Phe1581=)
c.5241T>C (p.Phe1747=)
c.2838T>C (p.Phe946=)
2g.237366943A>TCA2188713COL6A3c.4626T>A (p.Phe1542Leu)
c.5244T>A (p.Phe1748Leu)
c.3423T>A (p.Phe1141Leu)
c.4644T>A (p.Phe1548Leu)
c.4023T>A (p.Phe1341Leu)
c.4743T>A (p.Phe1581Leu)
c.5241T>A (p.Phe1747Leu)
c.2838T>A (p.Phe946Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366944A>CCA351187884COL6A3c.4625T>G (p.Phe1542Cys)
c.5243T>G (p.Phe1748Cys)
c.3422T>G (p.Phe1141Cys)
c.4643T>G (p.Phe1548Cys)
c.4022T>G (p.Phe1341Cys)
c.4742T>G (p.Phe1581Cys)
c.5240T>G (p.Phe1747Cys)
c.2837T>G (p.Phe946Cys)
2g.237366944A>GCA351187885COL6A3c.4625T>C (p.Phe1542Ser)
c.5243T>C (p.Phe1748Ser)
c.3422T>C (p.Phe1141Ser)
c.4643T>C (p.Phe1548Ser)
c.4022T>C (p.Phe1341Ser)
c.4742T>C (p.Phe1581Ser)
c.5240T>C (p.Phe1747Ser)
c.2837T>C (p.Phe946Ser)
2g.237366944A>TCA351187886COL6A3c.4625T>A (p.Phe1542Tyr)
c.5243T>A (p.Phe1748Tyr)
c.3422T>A (p.Phe1141Tyr)
c.4643T>A (p.Phe1548Tyr)
c.4022T>A (p.Phe1341Tyr)
c.4742T>A (p.Phe1581Tyr)
c.5240T>A (p.Phe1747Tyr)
c.2837T>A (p.Phe946Tyr)
2g.237366945A=CA1337620971COL6A3c.4624T= (p.Phe1542=)
c.5242T= (p.Phe1748=)
c.3421T= (p.Phe1141=)
c.4642T= (p.Phe1548=)
c.4021T= (p.Phe1341=)
c.4741T= (p.Phe1581=)
c.5239T= (p.Phe1747=)
c.2836T= (p.Phe946=)
2g.237366945A>CCA351187887COL6A3c.4624T>G (p.Phe1542Val)
c.5242T>G (p.Phe1748Val)
c.3421T>G (p.Phe1141Val)
c.4642T>G (p.Phe1548Val)
c.4021T>G (p.Phe1341Val)
c.4741T>G (p.Phe1581Val)
c.5239T>G (p.Phe1747Val)
c.2836T>G (p.Phe946Val)
2g.237366945A>GCA351187888COL6A3c.4624T>C (p.Phe1542Leu)
c.5242T>C (p.Phe1748Leu)
c.3421T>C (p.Phe1141Leu)
c.4642T>C (p.Phe1548Leu)
c.4021T>C (p.Phe1341Leu)
c.4741T>C (p.Phe1581Leu)
c.5239T>C (p.Phe1747Leu)
c.2836T>C (p.Phe946Leu)
 gnomAD v4
2g.237366945A>TCA351187889COL6A3c.4624T>A (p.Phe1542Ile)
c.5242T>A (p.Phe1748Ile)
c.3421T>A (p.Phe1141Ile)
c.4642T>A (p.Phe1548Ile)
c.4021T>A (p.Phe1341Ile)
c.4741T>A (p.Phe1581Ile)
c.5239T>A (p.Phe1747Ile)
c.2836T>A (p.Phe946Ile)
 dbSNP gnomAD v2
2g.237366946G>ACA2188714COL6A3c.4623C>T (p.Ala1541=)
c.5241C>T (p.Ala1747=)
c.3420C>T (p.Ala1140=)
c.4641C>T (p.Ala1547=)
c.4020C>T (p.Ala1340=)
c.4740C>T (p.Ala1580=)
c.5238C>T (p.Ala1746=)
c.2835C>T (p.Ala945=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366946G>CCA431710646COL6A3c.4623C>G (p.Ala1541=)
c.5241C>G (p.Ala1747=)
c.3420C>G (p.Ala1140=)
c.4641C>G (p.Ala1547=)
c.4020C>G (p.Ala1340=)
c.4740C>G (p.Ala1580=)
c.5238C>G (p.Ala1746=)
c.2835C>G (p.Ala945=)
2g.237366946G=CA1337620972COL6A3c.4623C= (p.Ala1541=)
c.5241C= (p.Ala1747=)
c.3420C= (p.Ala1140=)
c.4641C= (p.Ala1547=)
c.4020C= (p.Ala1340=)
c.4740C= (p.Ala1580=)
c.5238C= (p.Ala1746=)
c.2835C= (p.Ala945=)
2g.237366946G>TCA431710647COL6A3c.4623C>A (p.Ala1541=)
c.5241C>A (p.Ala1747=)
c.3420C>A (p.Ala1140=)
c.4641C>A (p.Ala1547=)
c.4020C>A (p.Ala1340=)
c.4740C>A (p.Ala1580=)
c.5238C>A (p.Ala1746=)
c.2835C>A (p.Ala945=)
2g.237366947G>ACA351187890COL6A3c.4622C>T (p.Ala1541Val)
c.5240C>T (p.Ala1747Val)
c.3419C>T (p.Ala1140Val)
c.4640C>T (p.Ala1547Val)
c.4019C>T (p.Ala1340Val)
c.4739C>T (p.Ala1580Val)
c.5237C>T (p.Ala1746Val)
c.2834C>T (p.Ala945Val)
2g.237366947G>CCA351187891COL6A3c.4622C>G (p.Ala1541Gly)
c.5240C>G (p.Ala1747Gly)
c.3419C>G (p.Ala1140Gly)
c.4640C>G (p.Ala1547Gly)
c.4019C>G (p.Ala1340Gly)
c.4739C>G (p.Ala1580Gly)
c.5237C>G (p.Ala1746Gly)
c.2834C>G (p.Ala945Gly)
 gnomAD v4
2g.237366947G>TCA351187892COL6A3c.4622C>A (p.Ala1541Asp)
c.5240C>A (p.Ala1747Asp)
c.3419C>A (p.Ala1140Asp)
c.4640C>A (p.Ala1547Asp)
c.4019C>A (p.Ala1340Asp)
c.4739C>A (p.Ala1580Asp)
c.5237C>A (p.Ala1746Asp)
c.2834C>A (p.Ala945Asp)
2g.237366948C>ACA351187893COL6A3c.4621G>T (p.Ala1541Ser)
c.5239G>T (p.Ala1747Ser)
c.3418G>T (p.Ala1140Ser)
c.4639G>T (p.Ala1547Ser)
c.4018G>T (p.Ala1340Ser)
c.4738G>T (p.Ala1580Ser)
c.5236G>T (p.Ala1746Ser)
c.2833G>T (p.Ala945Ser)
2g.237366948C>GCA351187894COL6A3c.4621G>C (p.Ala1541Pro)
c.5239G>C (p.Ala1747Pro)
c.3418G>C (p.Ala1140Pro)
c.4639G>C (p.Ala1547Pro)
c.4018G>C (p.Ala1340Pro)
c.4738G>C (p.Ala1580Pro)
c.5236G>C (p.Ala1746Pro)
c.2833G>C (p.Ala945Pro)
2g.237366948C>TCA351187895COL6A3c.4621G>A (p.Ala1541Thr)
c.5239G>A (p.Ala1747Thr)
c.3418G>A (p.Ala1140Thr)
c.4639G>A (p.Ala1547Thr)
c.4018G>A (p.Ala1340Thr)
c.4738G>A (p.Ala1580Thr)
c.5236G>A (p.Ala1746Thr)
c.2833G>A (p.Ala945Thr)
2g.237366949A>CCA351187896COL6A3c.4620T>G (p.Ile1540Met)
c.5238T>G (p.Ile1746Met)
c.3417T>G (p.Ile1139Met)
c.4638T>G (p.Ile1546Met)
c.4017T>G (p.Ile1339Met)
c.4737T>G (p.Ile1579Met)
c.5235T>G (p.Ile1745Met)
c.2832T>G (p.Ile944Met)
 gnomAD v4
2g.237366949A>GCA431710651COL6A3c.4620T>C (p.Ile1540=)
c.5238T>C (p.Ile1746=)
c.3417T>C (p.Ile1139=)
c.4638T>C (p.Ile1546=)
c.4017T>C (p.Ile1339=)
c.4737T>C (p.Ile1579=)
c.5235T>C (p.Ile1745=)
c.2832T>C (p.Ile944=)
2g.237366949A>TCA431710652COL6A3c.4620T>A (p.Ile1540=)
c.5238T>A (p.Ile1746=)
c.3417T>A (p.Ile1139=)
c.4638T>A (p.Ile1546=)
c.4017T>A (p.Ile1339=)
c.4737T>A (p.Ile1579=)
c.5235T>A (p.Ile1745=)
c.2832T>A (p.Ile944=)
2g.237366950A>CCA351187899COL6A3c.4619T>G (p.Ile1540Ser)
c.5237T>G (p.Ile1746Ser)
c.3416T>G (p.Ile1139Ser)
c.4637T>G (p.Ile1546Ser)
c.4016T>G (p.Ile1339Ser)
c.4736T>G (p.Ile1579Ser)
c.5234T>G (p.Ile1745Ser)
c.2831T>G (p.Ile944Ser)
2g.237366950A>GCA351187897COL6A3c.4619T>C (p.Ile1540Thr)
c.5237T>C (p.Ile1746Thr)
c.3416T>C (p.Ile1139Thr)
c.4637T>C (p.Ile1546Thr)
c.4016T>C (p.Ile1339Thr)
c.4736T>C (p.Ile1579Thr)
c.5234T>C (p.Ile1745Thr)
c.2831T>C (p.Ile944Thr)
 gnomAD v4
2g.237366950A>TCA351187898COL6A3c.4619T>A (p.Ile1540Asn)
c.5237T>A (p.Ile1746Asn)
c.3416T>A (p.Ile1139Asn)
c.4637T>A (p.Ile1546Asn)
c.4016T>A (p.Ile1339Asn)
c.4736T>A (p.Ile1579Asn)
c.5234T>A (p.Ile1745Asn)
c.2831T>A (p.Ile944Asn)
2g.237366951T>ACA351187900COL6A3c.4618A>T (p.Ile1540Phe)
c.5236A>T (p.Ile1746Phe)
c.3415A>T (p.Ile1139Phe)
c.4636A>T (p.Ile1546Phe)
c.4015A>T (p.Ile1339Phe)
c.4735A>T (p.Ile1579Phe)
c.5233A>T (p.Ile1745Phe)
c.2830A>T (p.Ile944Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.237366951T>CCA351187901COL6A3c.4618A>G (p.Ile1540Val)
c.5236A>G (p.Ile1746Val)
c.3415A>G (p.Ile1139Val)
c.4636A>G (p.Ile1546Val)
c.4015A>G (p.Ile1339Val)
c.4735A>G (p.Ile1579Val)
c.5233A>G (p.Ile1745Val)
c.2830A>G (p.Ile944Val)
 dbSNP gnomAD v2 gnomAD v4
2g.237366951T>GCA351187902COL6A3c.4618A>C (p.Ile1540Leu)
c.5236A>C (p.Ile1746Leu)
c.3415A>C (p.Ile1139Leu)
c.4636A>C (p.Ile1546Leu)
c.4015A>C (p.Ile1339Leu)
c.4735A>C (p.Ile1579Leu)
c.5233A>C (p.Ile1745Leu)
c.2830A>C (p.Ile944Leu)
2g.237366951T=CA1337620973COL6A3c.4618A= (p.Ile1540=)
c.5236A= (p.Ile1746=)
c.3415A= (p.Ile1139=)
c.4636A= (p.Ile1546=)
c.4015A= (p.Ile1339=)
c.4735A= (p.Ile1579=)
c.5233A= (p.Ile1745=)
c.2830A= (p.Ile944=)
2g.237366952C>ACA351187903COL6A3c.4617G>T (p.Gln1539His)
c.5235G>T (p.Gln1745His)
c.3414G>T (p.Gln1138His)
c.4635G>T (p.Gln1545His)
c.4014G>T (p.Gln1338His)
c.4734G>T (p.Gln1578His)
c.5232G>T (p.Gln1744His)
c.2829G>T (p.Gln943His)
2g.237366952C=CA1337620974COL6A3c.4617G= (p.Gln1539=)
c.5235G= (p.Gln1745=)
c.3414G= (p.Gln1138=)
c.4635G= (p.Gln1545=)
c.4014G= (p.Gln1338=)
c.4734G= (p.Gln1578=)
c.5232G= (p.Gln1744=)
c.2829G= (p.Gln943=)
2g.237366952C>GCA351187904COL6A3c.4617G>C (p.Gln1539His)
c.5235G>C (p.Gln1745His)
c.3414G>C (p.Gln1138His)
c.4635G>C (p.Gln1545His)
c.4014G>C (p.Gln1338His)
c.4734G>C (p.Gln1578His)
c.5232G>C (p.Gln1744His)
c.2829G>C (p.Gln943His)
 dbSNP
2g.237366952C>TCA431710656COL6A3c.4617G>A (p.Gln1539=)
c.5235G>A (p.Gln1745=)
c.3414G>A (p.Gln1138=)
c.4635G>A (p.Gln1545=)
c.4014G>A (p.Gln1338=)
c.4734G>A (p.Gln1578=)
c.5232G>A (p.Gln1744=)
c.2829G>A (p.Gln943=)
2g.237366953T>ACA351187905COL6A3c.4616A>T (p.Gln1539Leu)
c.5234A>T (p.Gln1745Leu)
c.3413A>T (p.Gln1138Leu)
c.4634A>T (p.Gln1545Leu)
c.4013A>T (p.Gln1338Leu)
c.4733A>T (p.Gln1578Leu)
c.5231A>T (p.Gln1744Leu)
c.2828A>T (p.Gln943Leu)
2g.237366953T>CCA2188715COL6A3c.4616A>G (p.Gln1539Arg)
c.5234A>G (p.Gln1745Arg)
c.3413A>G (p.Gln1138Arg)
c.4634A>G (p.Gln1545Arg)
c.4013A>G (p.Gln1338Arg)
c.4733A>G (p.Gln1578Arg)
c.5231A>G (p.Gln1744Arg)
c.2828A>G (p.Gln943Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366953T>GCA351187906COL6A3c.4616A>C (p.Gln1539Pro)
c.5234A>C (p.Gln1745Pro)
c.3413A>C (p.Gln1138Pro)
c.4634A>C (p.Gln1545Pro)
c.4013A>C (p.Gln1338Pro)
c.4733A>C (p.Gln1578Pro)
c.5231A>C (p.Gln1744Pro)
c.2828A>C (p.Gln943Pro)
 gnomAD v4
2g.237366953T=CA1337620975COL6A3c.4616A= (p.Gln1539=)
c.5234A= (p.Gln1745=)
c.3413A= (p.Gln1138=)
c.4634A= (p.Gln1545=)
c.4013A= (p.Gln1338=)
c.4733A= (p.Gln1578=)
c.5231A= (p.Gln1744=)
c.2828A= (p.Gln943=)
2g.237366954G>ACA351187907COL6A3c.4615C>T (p.Gln1539Ter)
c.5233C>T (p.Gln1745Ter)
c.3412C>T (p.Gln1138Ter)
c.4633C>T (p.Gln1545Ter)
c.4012C>T (p.Gln1338Ter)
c.4732C>T (p.Gln1578Ter)
c.5230C>T (p.Gln1744Ter)
c.2827C>T (p.Gln943Ter)
2g.237366954G>CCA351187908COL6A3c.4615C>G (p.Gln1539Glu)
c.5233C>G (p.Gln1745Glu)
c.3412C>G (p.Gln1138Glu)
c.4633C>G (p.Gln1545Glu)
c.4012C>G (p.Gln1338Glu)
c.4732C>G (p.Gln1578Glu)
c.5230C>G (p.Gln1744Glu)
c.2827C>G (p.Gln943Glu)
2g.237366954G>TCA351187909COL6A3c.4615C>A (p.Gln1539Lys)
c.5233C>A (p.Gln1745Lys)
c.3412C>A (p.Gln1138Lys)
c.4633C>A (p.Gln1545Lys)
c.4012C>A (p.Gln1338Lys)
c.4732C>A (p.Gln1578Lys)
c.5230C>A (p.Gln1744Lys)
c.2827C>A (p.Gln943Lys)
2g.237366955A>CCA431710659COL6A3c.4614T>G (p.Pro1538=)
c.5232T>G (p.Pro1744=)
c.3411T>G (p.Pro1137=)
c.4632T>G (p.Pro1544=)
c.4011T>G (p.Pro1337=)
c.4731T>G (p.Pro1577=)
c.5229T>G (p.Pro1743=)
c.2826T>G (p.Pro942=)
2g.237366955A>GCA431710657COL6A3c.4614T>C (p.Pro1538=)
c.5232T>C (p.Pro1744=)
c.3411T>C (p.Pro1137=)
c.4632T>C (p.Pro1544=)
c.4011T>C (p.Pro1337=)
c.4731T>C (p.Pro1577=)
c.5229T>C (p.Pro1743=)
c.2826T>C (p.Pro942=)
2g.237366955A>TCA431710658COL6A3c.4614T>A (p.Pro1538=)
c.5232T>A (p.Pro1744=)
c.3411T>A (p.Pro1137=)
c.4632T>A (p.Pro1544=)
c.4011T>A (p.Pro1337=)
c.4731T>A (p.Pro1577=)
c.5229T>A (p.Pro1743=)
c.2826T>A (p.Pro942=)
2g.237366956G>ACA351187912COL6A3c.4613C>T (p.Pro1538Leu)
c.5231C>T (p.Pro1744Leu)
c.3410C>T (p.Pro1137Leu)
c.4631C>T (p.Pro1544Leu)
c.4010C>T (p.Pro1337Leu)
c.4730C>T (p.Pro1577Leu)
c.5228C>T (p.Pro1743Leu)
c.2825C>T (p.Pro942Leu)
 ClinVar
2g.237366956G>CCA351187910COL6A3c.4613C>G (p.Pro1538Arg)
c.5231C>G (p.Pro1744Arg)
c.3410C>G (p.Pro1137Arg)
c.4631C>G (p.Pro1544Arg)
c.4010C>G (p.Pro1337Arg)
c.4730C>G (p.Pro1577Arg)
c.5228C>G (p.Pro1743Arg)
c.2825C>G (p.Pro942Arg)
2g.237366956G>TCA351187911COL6A3c.4613C>A (p.Pro1538His)
c.5231C>A (p.Pro1744His)
c.3410C>A (p.Pro1137His)
c.4631C>A (p.Pro1544His)
c.4010C>A (p.Pro1337His)
c.4730C>A (p.Pro1577His)
c.5228C>A (p.Pro1743His)
c.2825C>A (p.Pro942His)
2g.237366957G>ACA2188716COL6A3c.4612C>T (p.Pro1538Ser)
c.5230C>T (p.Pro1744Ser)
c.3409C>T (p.Pro1137Ser)
c.4630C>T (p.Pro1544Ser)
c.4009C>T (p.Pro1337Ser)
c.4729C>T (p.Pro1577Ser)
c.5227C>T (p.Pro1743Ser)
c.2824C>T (p.Pro942Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366957G>CCA351187913COL6A3c.4612C>G (p.Pro1538Ala)
c.5230C>G (p.Pro1744Ala)
c.3409C>G (p.Pro1137Ala)
c.4630C>G (p.Pro1544Ala)
c.4009C>G (p.Pro1337Ala)
c.4729C>G (p.Pro1577Ala)
c.5227C>G (p.Pro1743Ala)
c.2824C>G (p.Pro942Ala)
2g.237366957G=CA1337620976COL6A3c.4612C= (p.Pro1538=)
c.5230C= (p.Pro1744=)
c.3409C= (p.Pro1137=)
c.4630C= (p.Pro1544=)
c.4009C= (p.Pro1337=)
c.4729C= (p.Pro1577=)
c.5227C= (p.Pro1743=)
c.2824C= (p.Pro942=)
2g.237366957G>TCA351187914COL6A3c.4612C>A (p.Pro1538Thr)
c.5230C>A (p.Pro1744Thr)
c.3409C>A (p.Pro1137Thr)
c.4630C>A (p.Pro1544Thr)
c.4009C>A (p.Pro1337Thr)
c.4729C>A (p.Pro1577Thr)
c.5227C>A (p.Pro1743Thr)
c.2824C>A (p.Pro942Thr)
2g.237366958G>ACA431710666COL6A3c.4611C>T (p.Val1537=)
c.5229C>T (p.Val1743=)
c.3408C>T (p.Val1136=)
c.4629C>T (p.Val1543=)
c.4008C>T (p.Val1336=)
c.4728C>T (p.Val1576=)
c.5226C>T (p.Val1742=)
c.2823C>T (p.Val941=)
 gnomAD v4 COSMIC
2g.237366958G>CCA431710667COL6A3c.4611C>G (p.Val1537=)
c.5229C>G (p.Val1743=)
c.3408C>G (p.Val1136=)
c.4629C>G (p.Val1543=)
c.4008C>G (p.Val1336=)
c.4728C>G (p.Val1576=)
c.5226C>G (p.Val1742=)
c.2823C>G (p.Val941=)
 dbSNP gnomAD v2 gnomAD v4
2g.237366958G=CA1337620977COL6A3c.4611C= (p.Val1537=)
c.5229C= (p.Val1743=)
c.3408C= (p.Val1136=)
c.4629C= (p.Val1543=)
c.4008C= (p.Val1336=)
c.4728C= (p.Val1576=)
c.5226C= (p.Val1742=)
c.2823C= (p.Val941=)
2g.237366958G>TCA431710668COL6A3c.4611C>A (p.Val1537=)
c.5229C>A (p.Val1743=)
c.3408C>A (p.Val1136=)
c.4629C>A (p.Val1543=)
c.4008C>A (p.Val1336=)
c.4728C>A (p.Val1576=)
c.5226C>A (p.Val1742=)
c.2823C>A (p.Val941=)
2g.237366959A=CA1337620978COL6A3c.4610T= (p.Val1537=)
c.5228T= (p.Val1743=)
c.3407T= (p.Val1136=)
c.4628T= (p.Val1543=)
c.4007T= (p.Val1336=)
c.4727T= (p.Val1576=)
c.5225T= (p.Val1742=)
c.2822T= (p.Val941=)
2g.237366959A>CCA351187915COL6A3c.4610T>G (p.Val1537Gly)
c.5228T>G (p.Val1743Gly)
c.3407T>G (p.Val1136Gly)
c.4628T>G (p.Val1543Gly)
c.4007T>G (p.Val1336Gly)
c.4727T>G (p.Val1576Gly)
c.5225T>G (p.Val1742Gly)
c.2822T>G (p.Val941Gly)
 dbSNP
2g.237366959A>GCA351187916COL6A3c.4610T>C (p.Val1537Ala)
c.5228T>C (p.Val1743Ala)
c.3407T>C (p.Val1136Ala)
c.4628T>C (p.Val1543Ala)
c.4007T>C (p.Val1336Ala)
c.4727T>C (p.Val1576Ala)
c.5225T>C (p.Val1742Ala)
c.2822T>C (p.Val941Ala)
2g.237366959A>TCA351187917COL6A3c.4610T>A (p.Val1537Asp)
c.5228T>A (p.Val1743Asp)
c.3407T>A (p.Val1136Asp)
c.4628T>A (p.Val1543Asp)
c.4007T>A (p.Val1336Asp)
c.4727T>A (p.Val1576Asp)
c.5225T>A (p.Val1742Asp)
c.2822T>A (p.Val941Asp)
2g.237366960C>ACA351187918COL6A3c.4609G>T (p.Val1537Phe)
c.5227G>T (p.Val1743Phe)
c.3406G>T (p.Val1136Phe)
c.4627G>T (p.Val1543Phe)
c.4006G>T (p.Val1336Phe)
c.4726G>T (p.Val1576Phe)
c.5224G>T (p.Val1742Phe)
c.2821G>T (p.Val941Phe)
2g.237366960C>GCA351187919COL6A3c.4609G>C (p.Val1537Leu)
c.5227G>C (p.Val1743Leu)
c.3406G>C (p.Val1136Leu)
c.4627G>C (p.Val1543Leu)
c.4006G>C (p.Val1336Leu)
c.4726G>C (p.Val1576Leu)
c.5224G>C (p.Val1742Leu)
c.2821G>C (p.Val941Leu)
2g.237366960C>TCA351187920COL6A3c.4609G>A (p.Val1537Ile)
c.5227G>A (p.Val1743Ile)
c.3406G>A (p.Val1136Ile)
c.4627G>A (p.Val1543Ile)
c.4006G>A (p.Val1336Ile)
c.4726G>A (p.Val1576Ile)
c.5224G>A (p.Val1742Ile)
c.2821G>A (p.Val941Ile)
 gnomAD v4
2g.237366961C>ACA431710673COL6A3c.4608G>T (p.Arg1536=)
c.5226G>T (p.Arg1742=)
c.3405G>T (p.Arg1135=)
c.4626G>T (p.Arg1542=)
c.4005G>T (p.Arg1335=)
c.4725G>T (p.Arg1575=)
c.5223G>T (p.Arg1741=)
c.2820G>T (p.Arg940=)
 COSMIC
2g.237366961C=CA1337620979COL6A3c.4608G= (p.Arg1536=)
c.5226G= (p.Arg1742=)
c.3405G= (p.Arg1135=)
c.4626G= (p.Arg1542=)
c.4005G= (p.Arg1335=)
c.4725G= (p.Arg1575=)
c.5223G= (p.Arg1741=)
c.2820G= (p.Arg940=)
2g.237366961C>GCA431710675COL6A3c.4608G>C (p.Arg1536=)
c.5226G>C (p.Arg1742=)
c.3405G>C (p.Arg1135=)
c.4626G>C (p.Arg1542=)
c.4005G>C (p.Arg1335=)
c.4725G>C (p.Arg1575=)
c.5223G>C (p.Arg1741=)
c.2820G>C (p.Arg940=)
 dbSNP
2g.237366961C>TCA431710676COL6A3c.4608G>A (p.Arg1536=)
c.5226G>A (p.Arg1742=)
c.3405G>A (p.Arg1135=)
c.4626G>A (p.Arg1542=)
c.4005G>A (p.Arg1335=)
c.4725G>A (p.Arg1575=)
c.5223G>A (p.Arg1741=)
c.2820G>A (p.Arg940=)
 gnomAD v4
2g.237366962C>ACA351187921COL6A3c.4607G>T (p.Arg1536Leu)
c.5225G>T (p.Arg1742Leu)
c.3404G>T (p.Arg1135Leu)
c.4625G>T (p.Arg1542Leu)
c.4004G>T (p.Arg1335Leu)
c.4724G>T (p.Arg1575Leu)
c.5222G>T (p.Arg1741Leu)
c.2819G>T (p.Arg940Leu)
2g.237366962C=CA1337620980COL6A3c.4607G= (p.Arg1536=)
c.5225G= (p.Arg1742=)
c.3404G= (p.Arg1135=)
c.4625G= (p.Arg1542=)
c.4004G= (p.Arg1335=)
c.4724G= (p.Arg1575=)
c.5222G= (p.Arg1741=)
c.2819G= (p.Arg940=)
2g.237366962C>GCA351187922COL6A3c.4607G>C (p.Arg1536Pro)
c.5225G>C (p.Arg1742Pro)
c.3404G>C (p.Arg1135Pro)
c.4625G>C (p.Arg1542Pro)
c.4004G>C (p.Arg1335Pro)
c.4724G>C (p.Arg1575Pro)
c.5222G>C (p.Arg1741Pro)
c.2819G>C (p.Arg940Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.237366962C>TCA10604777COL6A3c.4607G>A (p.Arg1536Gln)
c.5225G>A (p.Arg1742Gln)
c.3404G>A (p.Arg1135Gln)
c.4625G>A (p.Arg1542Gln)
c.4004G>A (p.Arg1335Gln)
c.4724G>A (p.Arg1575Gln)
c.5222G>A (p.Arg1741Gln)
c.2819G>A (p.Arg940Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237366963G>ACA2188717COL6A3c.4606C>T (p.Arg1536Trp)
c.5224C>T (p.Arg1742Trp)
c.3403C>T (p.Arg1135Trp)
c.4624C>T (p.Arg1542Trp)
c.4003C>T (p.Arg1335Trp)
c.4723C>T (p.Arg1575Trp)
c.5221C>T (p.Arg1741Trp)
c.2818C>T (p.Arg940Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.237366963G>CCA351187923COL6A3c.4606C>G (p.Arg1536Gly)
c.5224C>G (p.Arg1742Gly)
c.3403C>G (p.Arg1135Gly)
c.4624C>G (p.Arg1542Gly)
c.4003C>G (p.Arg1335Gly)
c.4723C>G (p.Arg1575Gly)
c.5221C>G (p.Arg1741Gly)
c.2818C>G (p.Arg940Gly)
2g.237366963G=CA1337620981COL6A3c.4606C= (p.Arg1536=)
c.5224C= (p.Arg1742=)
c.3403C= (p.Arg1135=)
c.4624C= (p.Arg1542=)
c.4003C= (p.Arg1335=)
c.4723C= (p.Arg1575=)
c.5221C= (p.Arg1741=)
c.2818C= (p.Arg940=)
2g.237366963G>TCA67814479COL6A3c.4606C>A (p.Arg1536=)
c.5224C>A (p.Arg1742=)
c.3403C>A (p.Arg1135=)
c.4624C>A (p.Arg1542=)
c.4003C>A (p.Arg1335=)
c.4723C>A (p.Arg1575=)
c.5221C>A (p.Arg1741=)
c.2818C>A (p.Arg940=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237366964C>ACA351187924COL6A3c.4605G>T (p.Gln1535His)
c.5223G>T (p.Gln1741His)
c.3402G>T (p.Gln1134His)
c.4623G>T (p.Gln1541His)
c.4002G>T (p.Gln1334His)
c.4722G>T (p.Gln1574His)
c.5220G>T (p.Gln1740His)
c.2817G>T (p.Gln939His)
2g.237366964C>GCA351187925COL6A3c.4605G>C (p.Gln1535His)
c.5223G>C (p.Gln1741His)
c.3402G>C (p.Gln1134His)
c.4623G>C (p.Gln1541His)
c.4002G>C (p.Gln1334His)
c.4722G>C (p.Gln1574His)
c.5220G>C (p.Gln1740His)
c.2817G>C (p.Gln939His)
2g.237366964C>TCA431710683COL6A3c.4605G>A (p.Gln1535=)
c.5223G>A (p.Gln1741=)
c.3402G>A (p.Gln1134=)
c.4623G>A (p.Gln1541=)
c.4002G>A (p.Gln1334=)
c.4722G>A (p.Gln1574=)
c.5220G>A (p.Gln1740=)
c.2817G>A (p.Gln939=)
2g.237366965T>ACA2188718COL6A3c.4604A>T (p.Gln1535Leu)
c.5222A>T (p.Gln1741Leu)
c.3401A>T (p.Gln1134Leu)
c.4622A>T (p.Gln1541Leu)
c.4001A>T (p.Gln1334Leu)
c.4721A>T (p.Gln1574Leu)
c.5219A>T (p.Gln1740Leu)
c.2816A>T (p.Gln939Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366965T>CCA351187926COL6A3c.4604A>G (p.Gln1535Arg)
c.5222A>G (p.Gln1741Arg)
c.3401A>G (p.Gln1134Arg)
c.4622A>G (p.Gln1541Arg)
c.4001A>G (p.Gln1334Arg)
c.4721A>G (p.Gln1574Arg)
c.5219A>G (p.Gln1740Arg)
c.2816A>G (p.Gln939Arg)
2g.237366965T>GCA351187927COL6A3c.4604A>C (p.Gln1535Pro)
c.5222A>C (p.Gln1741Pro)
c.3401A>C (p.Gln1134Pro)
c.4622A>C (p.Gln1541Pro)
c.4001A>C (p.Gln1334Pro)
c.4721A>C (p.Gln1574Pro)
c.5219A>C (p.Gln1740Pro)
c.2816A>C (p.Gln939Pro)
2g.237366965T=CA1337620982COL6A3c.4604A= (p.Gln1535=)
c.5222A= (p.Gln1741=)
c.3401A= (p.Gln1134=)
c.4622A= (p.Gln1541=)
c.4001A= (p.Gln1334=)
c.4721A= (p.Gln1574=)
c.5219A= (p.Gln1740=)
c.2816A= (p.Gln939=)
2g.237366966G>ACA351187928COL6A3c.4603C>T (p.Gln1535Ter)
c.5221C>T (p.Gln1741Ter)
c.3400C>T (p.Gln1134Ter)
c.4621C>T (p.Gln1541Ter)
c.4000C>T (p.Gln1334Ter)
c.4720C>T (p.Gln1574Ter)
c.5218C>T (p.Gln1740Ter)
c.2815C>T (p.Gln939Ter)
2g.237366966G>CCA351187930COL6A3c.4603C>G (p.Gln1535Glu)
c.5221C>G (p.Gln1741Glu)
c.3400C>G (p.Gln1134Glu)
c.4621C>G (p.Gln1541Glu)
c.4000C>G (p.Gln1334Glu)
c.4720C>G (p.Gln1574Glu)
c.5218C>G (p.Gln1740Glu)
c.2815C>G (p.Gln939Glu)
2g.237366966G>TCA351187932COL6A3c.4603C>A (p.Gln1535Lys)
c.5221C>A (p.Gln1741Lys)
c.3400C>A (p.Gln1134Lys)
c.4621C>A (p.Gln1541Lys)
c.4000C>A (p.Gln1334Lys)
c.4720C>A (p.Gln1574Lys)
c.5218C>A (p.Gln1740Lys)
c.2815C>A (p.Gln939Lys)
 ClinVar
2g.237366967G>ACA431710688COL6A3c.4602C>T (p.Asp1534=)
c.5220C>T (p.Asp1740=)
c.3399C>T (p.Asp1133=)
c.4620C>T (p.Asp1540=)
c.3999C>T (p.Asp1333=)
c.4719C>T (p.Asp1573=)
c.5217C>T (p.Asp1739=)
c.2814C>T (p.Asp938=)
2g.237366967G>CCA351187933COL6A3c.4602C>G (p.Asp1534Glu)
c.5220C>G (p.Asp1740Glu)
c.3399C>G (p.Asp1133Glu)
c.4620C>G (p.Asp1540Glu)
c.3999C>G (p.Asp1333Glu)
c.4719C>G (p.Asp1573Glu)
c.5217C>G (p.Asp1739Glu)
c.2814C>G (p.Asp938Glu)
2g.237366967G>TCA351187935COL6A3c.4602C>A (p.Asp1534Glu)
c.5220C>A (p.Asp1740Glu)
c.3399C>A (p.Asp1133Glu)
c.4620C>A (p.Asp1540Glu)
c.3999C>A (p.Asp1333Glu)
c.4719C>A (p.Asp1573Glu)
c.5217C>A (p.Asp1739Glu)
c.2814C>A (p.Asp938Glu)
2g.237366968T>ACA351187937COL6A3c.4601A>T (p.Asp1534Val)
c.5219A>T (p.Asp1740Val)
c.3398A>T (p.Asp1133Val)
c.4619A>T (p.Asp1540Val)
c.3998A>T (p.Asp1333Val)
c.4718A>T (p.Asp1573Val)
c.5216A>T (p.Asp1739Val)
c.2813A>T (p.Asp938Val)
2g.237366968T>CCA351187939COL6A3c.4601A>G (p.Asp1534Gly)
c.5219A>G (p.Asp1740Gly)
c.3398A>G (p.Asp1133Gly)
c.4619A>G (p.Asp1540Gly)
c.3998A>G (p.Asp1333Gly)
c.4718A>G (p.Asp1573Gly)
c.5216A>G (p.Asp1739Gly)
c.2813A>G (p.Asp938Gly)
2g.237366968T>GCA351187942COL6A3c.4601A>C (p.Asp1534Ala)
c.5219A>C (p.Asp1740Ala)
c.3398A>C (p.Asp1133Ala)
c.4619A>C (p.Asp1540Ala)
c.3998A>C (p.Asp1333Ala)
c.4718A>C (p.Asp1573Ala)
c.5216A>C (p.Asp1739Ala)
c.2813A>C (p.Asp938Ala)
2g.237366969C>ACA351187948COL6A3c.4600G>T (p.Asp1534Tyr)
c.5218G>T (p.Asp1740Tyr)
c.3397G>T (p.Asp1133Tyr)
c.4618G>T (p.Asp1540Tyr)
c.3997G>T (p.Asp1333Tyr)
c.4717G>T (p.Asp1573Tyr)
c.5215G>T (p.Asp1739Tyr)
c.2812G>T (p.Asp938Tyr)
2g.237366969C>GCA351187947COL6A3c.4600G>C (p.Asp1534His)
c.5218G>C (p.Asp1740His)
c.3397G>C (p.Asp1133His)
c.4618G>C (p.Asp1540His)
c.3997G>C (p.Asp1333His)
c.4717G>C (p.Asp1573His)
c.5215G>C (p.Asp1739His)
c.2812G>C (p.Asp938His)
2g.237366969C>TCA351187945COL6A3c.4600G>A (p.Asp1534Asn)
c.5218G>A (p.Asp1740Asn)
c.3397G>A (p.Asp1133Asn)
c.4618G>A (p.Asp1540Asn)
c.3997G>A (p.Asp1333Asn)
c.4717G>A (p.Asp1573Asn)
c.5215G>A (p.Asp1739Asn)
c.2812G>A (p.Asp938Asn)
 COSMIC
2g.237366970C>ACA431710692COL6A3c.4599G>T (p.Leu1533=)
c.5217G>T (p.Leu1739=)
c.3396G>T (p.Leu1132=)
c.4617G>T (p.Leu1539=)
c.3996G>T (p.Leu1332=)
c.4716G>T (p.Leu1572=)
c.5214G>T (p.Leu1738=)
c.2811G>T (p.Leu937=)
 COSMIC
2g.237366970C=CA1337620983COL6A3c.4599G= (p.Leu1533=)
c.5217G= (p.Leu1739=)
c.3396G= (p.Leu1132=)
c.4617G= (p.Leu1539=)
c.3996G= (p.Leu1332=)
c.4716G= (p.Leu1572=)
c.5214G= (p.Leu1738=)
c.2811G= (p.Leu937=)
2g.237366970C>GCA431710693COL6A3c.4599G>C (p.Leu1533=)
c.5217G>C (p.Leu1739=)
c.3396G>C (p.Leu1132=)
c.4617G>C (p.Leu1539=)
c.3996G>C (p.Leu1332=)
c.4716G>C (p.Leu1572=)
c.5214G>C (p.Leu1738=)
c.2811G>C (p.Leu937=)
 dbSNP
2g.237366970C>TCA431710696COL6A3c.4599G>A (p.Leu1533=)
c.5217G>A (p.Leu1739=)
c.3396G>A (p.Leu1132=)
c.4617G>A (p.Leu1539=)
c.3996G>A (p.Leu1332=)
c.4716G>A (p.Leu1572=)
c.5214G>A (p.Leu1738=)
c.2811G>A (p.Leu937=)
 dbSNP COSMIC
2g.237366971A=CA1337620984COL6A3c.4598T= (p.Leu1533=)
c.5216T= (p.Leu1739=)
c.3395T= (p.Leu1132=)
c.4616T= (p.Leu1539=)
c.3995T= (p.Leu1332=)
c.4715T= (p.Leu1572=)
c.5213T= (p.Leu1738=)
c.2810T= (p.Leu937=)
2g.237366971A>CCA351187953COL6A3c.4598T>G (p.Leu1533Arg)
c.5216T>G (p.Leu1739Arg)
c.3395T>G (p.Leu1132Arg)
c.4616T>G (p.Leu1539Arg)
c.3995T>G (p.Leu1332Arg)
c.4715T>G (p.Leu1572Arg)
c.5213T>G (p.Leu1738Arg)
c.2810T>G (p.Leu937Arg)
2g.237366971A>GCA351187954COL6A3c.4598T>C (p.Leu1533Pro)
c.5216T>C (p.Leu1739Pro)
c.3395T>C (p.Leu1132Pro)
c.4616T>C (p.Leu1539Pro)
c.3995T>C (p.Leu1332Pro)
c.4715T>C (p.Leu1572Pro)
c.5213T>C (p.Leu1738Pro)
c.2810T>C (p.Leu937Pro)
 dbSNP
2g.237366971A>TCA351187957COL6A3c.4598T>A (p.Leu1533Gln)
c.5216T>A (p.Leu1739Gln)
c.3395T>A (p.Leu1132Gln)
c.4616T>A (p.Leu1539Gln)
c.3995T>A (p.Leu1332Gln)
c.4715T>A (p.Leu1572Gln)
c.5213T>A (p.Leu1738Gln)
c.2810T>A (p.Leu937Gln)
2g.237366972G>ACA431710697COL6A3c.4597C>T (p.Leu1533=)
c.5215C>T (p.Leu1739=)
c.3394C>T (p.Leu1132=)
c.4615C>T (p.Leu1539=)
c.3994C>T (p.Leu1332=)
c.4714C>T (p.Leu1572=)
c.5212C>T (p.Leu1738=)
c.2809C>T (p.Leu937=)
2g.237366972G>CCA351187959COL6A3c.4597C>G (p.Leu1533Val)
c.5215C>G (p.Leu1739Val)
c.3394C>G (p.Leu1132Val)
c.4615C>G (p.Leu1539Val)
c.3994C>G (p.Leu1332Val)
c.4714C>G (p.Leu1572Val)
c.5212C>G (p.Leu1738Val)
c.2809C>G (p.Leu937Val)
2g.237366972G=CA1337620985COL6A3c.4597C= (p.Leu1533=)
c.5215C= (p.Leu1739=)
c.3394C= (p.Leu1132=)
c.4615C= (p.Leu1539=)
c.3994C= (p.Leu1332=)
c.4714C= (p.Leu1572=)
c.5212C= (p.Leu1738=)
c.2809C= (p.Leu937=)
2g.237366972G>TCA351187962COL6A3c.4597C>A (p.Leu1533Met)
c.5215C>A (p.Leu1739Met)
c.3394C>A (p.Leu1132Met)
c.4615C>A (p.Leu1539Met)
c.3994C>A (p.Leu1332Met)
c.4714C>A (p.Leu1572Met)
c.5212C>A (p.Leu1738Met)
c.2809C>A (p.Leu937Met)
 ClinVar dbSNP gnomAD v4
2g.237366973G>ACA431710699COL6A3c.4596C>T (p.Arg1532=)
c.5214C>T (p.Arg1738=)
c.3393C>T (p.Arg1131=)
c.4614C>T (p.Arg1538=)
c.3993C>T (p.Arg1331=)
c.4713C>T (p.Arg1571=)
c.5211C>T (p.Arg1737=)
c.2808C>T (p.Arg936=)
 ClinVar dbSNP
2g.237366973G>CCA431710700COL6A3c.4596C>G (p.Arg1532=)
c.5214C>G (p.Arg1738=)
c.3393C>G (p.Arg1131=)
c.4614C>G (p.Arg1538=)
c.3993C>G (p.Arg1331=)
c.4713C>G (p.Arg1571=)
c.5211C>G (p.Arg1737=)
c.2808C>G (p.Arg936=)
2g.237366973G=CA1337620986COL6A3c.4596C= (p.Arg1532=)
c.5214C= (p.Arg1738=)
c.3393C= (p.Arg1131=)
c.4614C= (p.Arg1538=)
c.3993C= (p.Arg1331=)
c.4713C= (p.Arg1571=)
c.5211C= (p.Arg1737=)
c.2808C= (p.Arg936=)
2g.237366973G>TCA431710701COL6A3c.4596C>A (p.Arg1532=)
c.5214C>A (p.Arg1738=)
c.3393C>A (p.Arg1131=)
c.4614C>A (p.Arg1538=)
c.3993C>A (p.Arg1331=)
c.4713C>A (p.Arg1571=)
c.5211C>A (p.Arg1737=)
c.2808C>A (p.Arg936=)
2g.237366974C>ACA351187964COL6A3c.4595G>T (p.Arg1532Leu)
c.5213G>T (p.Arg1738Leu)
c.3392G>T (p.Arg1131Leu)
c.4613G>T (p.Arg1538Leu)
c.3992G>T (p.Arg1331Leu)
c.4712G>T (p.Arg1571Leu)
c.5210G>T (p.Arg1737Leu)
c.2807G>T (p.Arg936Leu)
 gnomAD v4
2g.237366974C=CA1337620987COL6A3c.4595G= (p.Arg1532=)
c.5213G= (p.Arg1738=)
c.3392G= (p.Arg1131=)
c.4613G= (p.Arg1538=)
c.3992G= (p.Arg1331=)
c.4712G= (p.Arg1571=)
c.5210G= (p.Arg1737=)
c.2807G= (p.Arg936=)
2g.237366974C>GCA351187966COL6A3c.4595G>C (p.Arg1532Pro)
c.5213G>C (p.Arg1738Pro)
c.3392G>C (p.Arg1131Pro)
c.4613G>C (p.Arg1538Pro)
c.3992G>C (p.Arg1331Pro)
c.4712G>C (p.Arg1571Pro)
c.5210G>C (p.Arg1737Pro)
c.2807G>C (p.Arg936Pro)
2g.237366974C>TCA2188719COL6A3c.4595G>A (p.Arg1532His)
c.5213G>A (p.Arg1738His)
c.3392G>A (p.Arg1131His)
c.4613G>A (p.Arg1538His)
c.3992G>A (p.Arg1331His)
c.4712G>A (p.Arg1571His)
c.5210G>A (p.Arg1737His)
c.2807G>A (p.Arg936His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237366975G>ACA67814486COL6A3c.4594C>T (p.Arg1532Cys)
c.5212C>T (p.Arg1738Cys)
c.3391C>T (p.Arg1131Cys)
c.4612C>T (p.Arg1538Cys)
c.3991C>T (p.Arg1331Cys)
c.4711C>T (p.Arg1571Cys)
c.5209C>T (p.Arg1737Cys)
c.2806C>T (p.Arg936Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.237366975G>CCA351187973COL6A3c.4594C>G (p.Arg1532Gly)
c.5212C>G (p.Arg1738Gly)
c.3391C>G (p.Arg1131Gly)
c.4612C>G (p.Arg1538Gly)
c.3991C>G (p.Arg1331Gly)
c.4711C>G (p.Arg1571Gly)
c.5209C>G (p.Arg1737Gly)
c.2806C>G (p.Arg936Gly)
2g.237366975G=CA1337620988COL6A3c.4594C= (p.Arg1532=)
c.5212C= (p.Arg1738=)
c.3391C= (p.Arg1131=)
c.4612C= (p.Arg1538=)
c.3991C= (p.Arg1331=)
c.4711C= (p.Arg1571=)
c.5209C= (p.Arg1737=)
c.2806C= (p.Arg936=)
2g.237366975G>TCA351187975COL6A3c.4594C>A (p.Arg1532Ser)
c.5212C>A (p.Arg1738Ser)
c.3391C>A (p.Arg1131Ser)
c.4612C>A (p.Arg1538Ser)
c.3991C>A (p.Arg1331Ser)
c.4711C>A (p.Arg1571Ser)
c.5209C>A (p.Arg1737Ser)
c.2806C>A (p.Arg936Ser)
2g.237366976G>ACA431710709COL6A3c.4593C>T (p.Ser1531=)
c.5211C>T (p.Ser1737=)
c.3390C>T (p.Ser1130=)
c.4611C>T (p.Ser1537=)
c.3990C>T (p.Ser1330=)
c.4710C>T (p.Ser1570=)
c.5208C>T (p.Ser1736=)
c.2805C>T (p.Ser935=)
2g.237366976G>CCA2188720COL6A3c.4593C>G (p.Ser1531Arg)
c.5211C>G (p.Ser1737Arg)
c.3390C>G (p.Ser1130Arg)
c.4611C>G (p.Ser1537Arg)
c.3990C>G (p.Ser1330Arg)
c.4710C>G (p.Ser1570Arg)
c.5208C>G (p.Ser1736Arg)
c.2805C>G (p.Ser935Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366976G=CA1337620989COL6A3c.4593C= (p.Ser1531=)
c.5211C= (p.Ser1737=)
c.3390C= (p.Ser1130=)
c.4611C= (p.Ser1537=)
c.3990C= (p.Ser1330=)
c.4710C= (p.Ser1570=)
c.5208C= (p.Ser1736=)
c.2805C= (p.Ser935=)
2g.237366976G>TCA351187978COL6A3c.4593C>A (p.Ser1531Arg)
c.5211C>A (p.Ser1737Arg)
c.3390C>A (p.Ser1130Arg)
c.4611C>A (p.Ser1537Arg)
c.3990C>A (p.Ser1330Arg)
c.4710C>A (p.Ser1570Arg)
c.5208C>A (p.Ser1736Arg)
c.2805C>A (p.Ser935Arg)
2g.237366977C>ACA351187983COL6A3c.4592G>T (p.Ser1531Ile)
c.5210G>T (p.Ser1737Ile)
c.3389G>T (p.Ser1130Ile)
c.4610G>T (p.Ser1537Ile)
c.3989G>T (p.Ser1330Ile)
c.4709G>T (p.Ser1570Ile)
c.5207G>T (p.Ser1736Ile)
c.2804G>T (p.Ser935Ile)
2g.237366977C>GCA351187985COL6A3c.4592G>C (p.Ser1531Thr)
c.5210G>C (p.Ser1737Thr)
c.3389G>C (p.Ser1130Thr)
c.4610G>C (p.Ser1537Thr)
c.3989G>C (p.Ser1330Thr)
c.4709G>C (p.Ser1570Thr)
c.5207G>C (p.Ser1736Thr)
c.2804G>C (p.Ser935Thr)
 dbSNP
2g.237366977C>TCA351187981COL6A3c.4592G>A (p.Ser1531Asn)
c.5210G>A (p.Ser1737Asn)
c.3389G>A (p.Ser1130Asn)
c.4610G>A (p.Ser1537Asn)
c.3989G>A (p.Ser1330Asn)
c.4709G>A (p.Ser1570Asn)
c.5207G>A (p.Ser1736Asn)
c.2804G>A (p.Ser935Asn)
 ClinVar gnomAD v4
2g.237366978T>ACA351187988COL6A3c.4591A>T (p.Ser1531Cys)
c.5209A>T (p.Ser1737Cys)
c.3388A>T (p.Ser1130Cys)
c.4609A>T (p.Ser1537Cys)
c.3988A>T (p.Ser1330Cys)
c.4708A>T (p.Ser1570Cys)
c.5206A>T (p.Ser1736Cys)
c.2803A>T (p.Ser935Cys)
2g.237366978T>CCA351187989COL6A3c.4591A>G (p.Ser1531Gly)
c.5209A>G (p.Ser1737Gly)
c.3388A>G (p.Ser1130Gly)
c.4609A>G (p.Ser1537Gly)
c.3988A>G (p.Ser1330Gly)
c.4708A>G (p.Ser1570Gly)
c.5206A>G (p.Ser1736Gly)
c.2803A>G (p.Ser935Gly)
2g.237366978T>GCA351187991COL6A3c.4591A>C (p.Ser1531Arg)
c.5209A>C (p.Ser1737Arg)
c.3388A>C (p.Ser1130Arg)
c.4609A>C (p.Ser1537Arg)
c.3988A>C (p.Ser1330Arg)
c.4708A>C (p.Ser1570Arg)
c.5206A>C (p.Ser1736Arg)
c.2803A>C (p.Ser935Arg)
2g.237366979G>ACA431710714COL6A3c.4590C>T (p.Gly1530=)
c.5208C>T (p.Gly1736=)
c.3387C>T (p.Gly1129=)
c.4608C>T (p.Gly1536=)
c.3987C>T (p.Gly1329=)
c.4707C>T (p.Gly1569=)
c.5205C>T (p.Gly1735=)
c.2802C>T (p.Gly934=)
2g.237366979G>CCA431710715COL6A3c.4590C>G (p.Gly1530=)
c.5208C>G (p.Gly1736=)
c.3387C>G (p.Gly1129=)
c.4608C>G (p.Gly1536=)
c.3987C>G (p.Gly1329=)
c.4707C>G (p.Gly1569=)
c.5205C>G (p.Gly1735=)
c.2802C>G (p.Gly934=)
2g.237366979G>TCA431710716COL6A3c.4590C>A (p.Gly1530=)
c.5208C>A (p.Gly1736=)
c.3387C>A (p.Gly1129=)
c.4608C>A (p.Gly1536=)
c.3987C>A (p.Gly1329=)
c.4707C>A (p.Gly1569=)
c.5205C>A (p.Gly1735=)
c.2802C>A (p.Gly934=)
2g.237366980C>ACA351187994COL6A3c.4589G>T (p.Gly1530Val)
c.5207G>T (p.Gly1736Val)
c.3386G>T (p.Gly1129Val)
c.4607G>T (p.Gly1536Val)
c.3986G>T (p.Gly1329Val)
c.4706G>T (p.Gly1569Val)
c.5204G>T (p.Gly1735Val)
c.2801G>T (p.Gly934Val)
2g.237366980C>GCA351187995COL6A3c.4589G>C (p.Gly1530Ala)
c.5207G>C (p.Gly1736Ala)
c.3386G>C (p.Gly1129Ala)
c.4607G>C (p.Gly1536Ala)
c.3986G>C (p.Gly1329Ala)
c.4706G>C (p.Gly1569Ala)
c.5204G>C (p.Gly1735Ala)
c.2801G>C (p.Gly934Ala)
2g.237366980C>TCA351187998COL6A3c.4589G>A (p.Gly1530Asp)
c.5207G>A (p.Gly1736Asp)
c.3386G>A (p.Gly1129Asp)
c.4607G>A (p.Gly1536Asp)
c.3986G>A (p.Gly1329Asp)
c.4706G>A (p.Gly1569Asp)
c.5204G>A (p.Gly1735Asp)
c.2801G>A (p.Gly934Asp)
 COSMIC
2g.237366981C>ACA351188000COL6A3c.4588G>T (p.Gly1530Cys)
c.5206G>T (p.Gly1736Cys)
c.3385G>T (p.Gly1129Cys)
c.4606G>T (p.Gly1536Cys)
c.3985G>T (p.Gly1329Cys)
c.4705G>T (p.Gly1569Cys)
c.5203G>T (p.Gly1735Cys)
c.2800G>T (p.Gly934Cys)
2g.237366981C>GCA351188002COL6A3c.4588G>C (p.Gly1530Arg)
c.5206G>C (p.Gly1736Arg)
c.3385G>C (p.Gly1129Arg)
c.4606G>C (p.Gly1536Arg)
c.3985G>C (p.Gly1329Arg)
c.4705G>C (p.Gly1569Arg)
c.5203G>C (p.Gly1735Arg)
c.2800G>C (p.Gly934Arg)
2g.237366981C>TCA351188004COL6A3c.4588G>A (p.Gly1530Ser)
c.5206G>A (p.Gly1736Ser)
c.3385G>A (p.Gly1129Ser)
c.4606G>A (p.Gly1536Ser)
c.3985G>A (p.Gly1329Ser)
c.4705G>A (p.Gly1569Ser)
c.5203G>A (p.Gly1735Ser)
c.2800G>A (p.Gly934Ser)
 COSMIC
2g.237366982T>ACA431710720COL6A3c.4587A>T (p.Ala1529=)
c.5205A>T (p.Ala1735=)
c.3384A>T (p.Ala1128=)
c.4605A>T (p.Ala1535=)
c.3984A>T (p.Ala1328=)
c.4704A>T (p.Ala1568=)
c.5202A>T (p.Ala1734=)
c.2799A>T (p.Ala933=)
2g.237366982T>CCA431710721COL6A3c.4587A>G (p.Ala1529=)
c.5205A>G (p.Ala1735=)
c.3384A>G (p.Ala1128=)
c.4605A>G (p.Ala1535=)
c.3984A>G (p.Ala1328=)
c.4704A>G (p.Ala1568=)
c.5202A>G (p.Ala1734=)
c.2799A>G (p.Ala933=)
 dbSNP
2g.237366982T>GCA431710723COL6A3c.4587A>C (p.Ala1529=)
c.5205A>C (p.Ala1735=)
c.3384A>C (p.Ala1128=)
c.4605A>C (p.Ala1535=)
c.3984A>C (p.Ala1328=)
c.4704A>C (p.Ala1568=)
c.5202A>C (p.Ala1734=)
c.2799A>C (p.Ala933=)
 gnomAD v4
2g.237366982T=CA1337620990COL6A3c.4587A= (p.Ala1529=)
c.5205A= (p.Ala1735=)
c.3384A= (p.Ala1128=)
c.4605A= (p.Ala1535=)
c.3984A= (p.Ala1328=)
c.4704A= (p.Ala1568=)
c.5202A= (p.Ala1734=)
c.2799A= (p.Ala933=)
2g.237366983G>ACA351188007COL6A3c.4586C>T (p.Ala1529Val)
c.5204C>T (p.Ala1735Val)
c.3383C>T (p.Ala1128Val)
c.4604C>T (p.Ala1535Val)
c.3983C>T (p.Ala1328Val)
c.4703C>T (p.Ala1568Val)
c.5201C>T (p.Ala1734Val)
c.2798C>T (p.Ala933Val)
2g.237366983G>CCA351188009COL6A3c.4586C>G (p.Ala1529Gly)
c.5204C>G (p.Ala1735Gly)
c.3383C>G (p.Ala1128Gly)
c.4604C>G (p.Ala1535Gly)
c.3983C>G (p.Ala1328Gly)
c.4703C>G (p.Ala1568Gly)
c.5201C>G (p.Ala1734Gly)
c.2798C>G (p.Ala933Gly)
2g.237366983G=CA1337620991COL6A3c.4586C= (p.Ala1529=)
c.5204C= (p.Ala1735=)
c.3383C= (p.Ala1128=)
c.4604C= (p.Ala1535=)
c.3983C= (p.Ala1328=)
c.4703C= (p.Ala1568=)
c.5201C= (p.Ala1734=)
c.2798C= (p.Ala933=)
2g.237366983G>TCA351188011COL6A3c.4586C>A (p.Ala1529Glu)
c.5204C>A (p.Ala1735Glu)
c.3383C>A (p.Ala1128Glu)
c.4604C>A (p.Ala1535Glu)
c.3983C>A (p.Ala1328Glu)
c.4703C>A (p.Ala1568Glu)
c.5201C>A (p.Ala1734Glu)
c.2798C>A (p.Ala933Glu)
 dbSNP gnomAD v2
2g.237366984C>ACA10606460COL6A3c.4585G>T (p.Ala1529Ser)
c.5203G>T (p.Ala1735Ser)
c.3382G>T (p.Ala1128Ser)
c.4603G>T (p.Ala1535Ser)
c.3982G>T (p.Ala1328Ser)
c.4702G>T (p.Ala1568Ser)
c.5200G>T (p.Ala1734Ser)
c.2797G>T (p.Ala933Ser)
 ClinVar dbSNP
2g.237366984C=CA1337620992COL6A3c.4585G= (p.Ala1529=)
c.5203G= (p.Ala1735=)
c.3382G= (p.Ala1128=)
c.4603G= (p.Ala1535=)
c.3982G= (p.Ala1328=)
c.4702G= (p.Ala1568=)
c.5200G= (p.Ala1734=)
c.2797G= (p.Ala933=)
2g.237366984C>GCA351188013COL6A3c.4585G>C (p.Ala1529Pro)
c.5203G>C (p.Ala1735Pro)
c.3382G>C (p.Ala1128Pro)
c.4603G>C (p.Ala1535Pro)
c.3982G>C (p.Ala1328Pro)
c.4702G>C (p.Ala1568Pro)
c.5200G>C (p.Ala1734Pro)
c.2797G>C (p.Ala933Pro)
2g.237366984C>TCA351188015COL6A3c.4585G>A (p.Ala1529Thr)
c.5203G>A (p.Ala1735Thr)
c.3382G>A (p.Ala1128Thr)
c.4603G>A (p.Ala1535Thr)
c.3982G>A (p.Ala1328Thr)
c.4702G>A (p.Ala1568Thr)
c.5200G>A (p.Ala1734Thr)
c.2797G>A (p.Ala933Thr)
 gnomAD v4 COSMIC
2g.237366985C>ACA351188018COL6A3c.4584G>T (p.Glu1528Asp)
c.5202G>T (p.Glu1734Asp)
c.3381G>T (p.Glu1127Asp)
c.4602G>T (p.Glu1534Asp)
c.3981G>T (p.Glu1327Asp)
c.4701G>T (p.Glu1567Asp)
c.5199G>T (p.Glu1733Asp)
c.2796G>T (p.Glu932Asp)
2g.237366985C>GCA351188023COL6A3c.4584G>C (p.Glu1528Asp)
c.5202G>C (p.Glu1734Asp)
c.3381G>C (p.Glu1127Asp)
c.4602G>C (p.Glu1534Asp)
c.3981G>C (p.Glu1327Asp)
c.4701G>C (p.Glu1567Asp)
c.5199G>C (p.Glu1733Asp)
c.2796G>C (p.Glu932Asp)
2g.237366985C>TCA431710730COL6A3c.4584G>A (p.Glu1528=)
c.5202G>A (p.Glu1734=)
c.3381G>A (p.Glu1127=)
c.4602G>A (p.Glu1534=)
c.3981G>A (p.Glu1327=)
c.4701G>A (p.Glu1567=)
c.5199G>A (p.Glu1733=)
c.2796G>A (p.Glu932=)
2g.237366986T>ACA351188027COL6A3c.4583A>T (p.Glu1528Val)
c.5201A>T (p.Glu1734Val)
c.3380A>T (p.Glu1127Val)
c.4601A>T (p.Glu1534Val)
c.3980A>T (p.Glu1327Val)
c.4700A>T (p.Glu1567Val)
c.5198A>T (p.Glu1733Val)
c.2795A>T (p.Glu932Val)
2g.237366986T>CCA351188028COL6A3c.4583A>G (p.Glu1528Gly)
c.5201A>G (p.Glu1734Gly)
c.3380A>G (p.Glu1127Gly)
c.4601A>G (p.Glu1534Gly)
c.3980A>G (p.Glu1327Gly)
c.4700A>G (p.Glu1567Gly)
c.5198A>G (p.Glu1733Gly)
c.2795A>G (p.Glu932Gly)
2g.237366986T>GCA351188031COL6A3c.4583A>C (p.Glu1528Ala)
c.5201A>C (p.Glu1734Ala)
c.3380A>C (p.Glu1127Ala)
c.4601A>C (p.Glu1534Ala)
c.3980A>C (p.Glu1327Ala)
c.4700A>C (p.Glu1567Ala)
c.5198A>C (p.Glu1733Ala)
c.2795A>C (p.Glu932Ala)
2g.237366987C>ACA351188036COL6A3c.4582G>T (p.Glu1528Ter)
c.5200G>T (p.Glu1734Ter)
c.3379G>T (p.Glu1127Ter)
c.4600G>T (p.Glu1534Ter)
c.3979G>T (p.Glu1327Ter)
c.4699G>T (p.Glu1567Ter)
c.5197G>T (p.Glu1733Ter)
c.2794G>T (p.Glu932Ter)
 COSMIC
2g.237366987C>GCA351188038COL6A3c.4582G>C (p.Glu1528Gln)
c.5200G>C (p.Glu1734Gln)
c.3379G>C (p.Glu1127Gln)
c.4600G>C (p.Glu1534Gln)
c.3979G>C (p.Glu1327Gln)
c.4699G>C (p.Glu1567Gln)
c.5197G>C (p.Glu1733Gln)
c.2794G>C (p.Glu932Gln)
2g.237366987C>TCA351188040COL6A3c.4582G>A (p.Glu1528Lys)
c.5200G>A (p.Glu1734Lys)
c.3379G>A (p.Glu1127Lys)
c.4600G>A (p.Glu1534Lys)
c.3979G>A (p.Glu1327Lys)
c.4699G>A (p.Glu1567Lys)
c.5197G>A (p.Glu1733Lys)
c.2794G>A (p.Glu932Lys)
 gnomAD v4
2g.237366988A>CCA431710732COL6A3c.4581T>G (p.Pro1527=)
c.5199T>G (p.Pro1733=)
c.3378T>G (p.Pro1126=)
c.4599T>G (p.Pro1533=)
c.3978T>G (p.Pro1326=)
c.4698T>G (p.Pro1566=)
c.5196T>G (p.Pro1732=)
c.2793T>G (p.Pro931=)
 gnomAD v4
2g.237366988A>GCA431710734COL6A3c.4581T>C (p.Pro1527=)
c.5199T>C (p.Pro1733=)
c.3378T>C (p.Pro1126=)
c.4599T>C (p.Pro1533=)
c.3978T>C (p.Pro1326=)
c.4698T>C (p.Pro1566=)
c.5196T>C (p.Pro1732=)
c.2793T>C (p.Pro931=)
 gnomAD v4
2g.237366988A>TCA431710733COL6A3c.4581T>A (p.Pro1527=)
c.5199T>A (p.Pro1733=)
c.3378T>A (p.Pro1126=)
c.4599T>A (p.Pro1533=)
c.3978T>A (p.Pro1326=)
c.4698T>A (p.Pro1566=)
c.5196T>A (p.Pro1732=)
c.2793T>A (p.Pro931=)
2g.237366989G>ACA351188042COL6A3c.4580C>T (p.Pro1527Leu)
c.5198C>T (p.Pro1733Leu)
c.3377C>T (p.Pro1126Leu)
c.4598C>T (p.Pro1533Leu)
c.3977C>T (p.Pro1326Leu)
c.4697C>T (p.Pro1566Leu)
c.5195C>T (p.Pro1732Leu)
c.2792C>T (p.Pro931Leu)
2g.237366989G>CCA351188044COL6A3c.4580C>G (p.Pro1527Arg)
c.5198C>G (p.Pro1733Arg)
c.3377C>G (p.Pro1126Arg)
c.4598C>G (p.Pro1533Arg)
c.3977C>G (p.Pro1326Arg)
c.4697C>G (p.Pro1566Arg)
c.5195C>G (p.Pro1732Arg)
c.2792C>G (p.Pro931Arg)
2g.237366989G>TCA351188048COL6A3c.4580C>A (p.Pro1527His)
c.5198C>A (p.Pro1733His)
c.3377C>A (p.Pro1126His)
c.4598C>A (p.Pro1533His)
c.3977C>A (p.Pro1326His)
c.4697C>A (p.Pro1566His)
c.5195C>A (p.Pro1732His)
c.2792C>A (p.Pro931His)
2g.237366990G>ACA351188053COL6A3c.4579C>T (p.Pro1527Ser)
c.5197C>T (p.Pro1733Ser)
c.3376C>T (p.Pro1126Ser)
c.4597C>T (p.Pro1533Ser)
c.3976C>T (p.Pro1326Ser)
c.4696C>T (p.Pro1566Ser)
c.5194C>T (p.Pro1732Ser)
c.2791C>T (p.Pro931Ser)
2g.237366990G>CCA351188056COL6A3c.4579C>G (p.Pro1527Ala)
c.5197C>G (p.Pro1733Ala)
c.3376C>G (p.Pro1126Ala)
c.4597C>G (p.Pro1533Ala)
c.3976C>G (p.Pro1326Ala)
c.4696C>G (p.Pro1566Ala)
c.5194C>G (p.Pro1732Ala)
c.2791C>G (p.Pro931Ala)
2g.237366990G>TCA351188052COL6A3c.4579C>A (p.Pro1527Thr)
c.5197C>A (p.Pro1733Thr)
c.3376C>A (p.Pro1126Thr)
c.4597C>A (p.Pro1533Thr)
c.3976C>A (p.Pro1326Thr)
c.4696C>A (p.Pro1566Thr)
c.5194C>A (p.Pro1732Thr)
c.2791C>A (p.Pro931Thr)
2g.237366991C>ACA431710740COL6A3c.4578G>T (p.Val1526=)
c.5196G>T (p.Val1732=)
c.3375G>T (p.Val1125=)
c.4596G>T (p.Val1532=)
c.3975G>T (p.Val1325=)
c.4695G>T (p.Val1565=)
c.5193G>T (p.Val1731=)
c.2790G>T (p.Val930=)
2g.237366991C>GCA431710738COL6A3c.4578G>C (p.Val1526=)
c.5196G>C (p.Val1732=)
c.3375G>C (p.Val1125=)
c.4596G>C (p.Val1532=)
c.3975G>C (p.Val1325=)
c.4695G>C (p.Val1565=)
c.5193G>C (p.Val1731=)
c.2790G>C (p.Val930=)
2g.237366991C>TCA431710739COL6A3c.4578G>A (p.Val1526=)
c.5196G>A (p.Val1732=)
c.3375G>A (p.Val1125=)
c.4596G>A (p.Val1532=)
c.3975G>A (p.Val1325=)
c.4695G>A (p.Val1565=)
c.5193G>A (p.Val1731=)
c.2790G>A (p.Val930=)
 gnomAD v4
2g.237366992A>CCA351188063COL6A3c.4577T>G (p.Val1526Gly)
c.5195T>G (p.Val1732Gly)
c.3374T>G (p.Val1125Gly)
c.4595T>G (p.Val1532Gly)
c.3974T>G (p.Val1325Gly)
c.4694T>G (p.Val1565Gly)
c.5192T>G (p.Val1731Gly)
c.2789T>G (p.Val930Gly)
2g.237366992A>GCA351188060COL6A3c.4577T>C (p.Val1526Ala)
c.5195T>C (p.Val1732Ala)
c.3374T>C (p.Val1125Ala)
c.4595T>C (p.Val1532Ala)
c.3974T>C (p.Val1325Ala)
c.4694T>C (p.Val1565Ala)
c.5192T>C (p.Val1731Ala)
c.2789T>C (p.Val930Ala)
 gnomAD v4
2g.237366992A>TCA351188065COL6A3c.4577T>A (p.Val1526Glu)
c.5195T>A (p.Val1732Glu)
c.3374T>A (p.Val1125Glu)
c.4595T>A (p.Val1532Glu)
c.3974T>A (p.Val1325Glu)
c.4694T>A (p.Val1565Glu)
c.5192T>A (p.Val1731Glu)
c.2789T>A (p.Val930Glu)
2g.237366993C>ACA351188067COL6A3c.4576G>T (p.Val1526Leu)
c.5194G>T (p.Val1732Leu)
c.3373G>T (p.Val1125Leu)
c.4594G>T (p.Val1532Leu)
c.3973G>T (p.Val1325Leu)
c.4693G>T (p.Val1565Leu)
c.5191G>T (p.Val1731Leu)
c.2788G>T (p.Val930Leu)
2g.237366993C>GCA351188069COL6A3c.4576G>C (p.Val1526Leu)
c.5194G>C (p.Val1732Leu)
c.3373G>C (p.Val1125Leu)
c.4594G>C (p.Val1532Leu)
c.3973G>C (p.Val1325Leu)
c.4693G>C (p.Val1565Leu)
c.5191G>C (p.Val1731Leu)
c.2788G>C (p.Val930Leu)
2g.237366993C>TCA351188071COL6A3c.4576G>A (p.Val1526Met)
c.5194G>A (p.Val1732Met)
c.3373G>A (p.Val1125Met)
c.4594G>A (p.Val1532Met)
c.3973G>A (p.Val1325Met)
c.4693G>A (p.Val1565Met)
c.5191G>A (p.Val1731Met)
c.2788G>A (p.Val930Met)
2g.237366994A>CCA351188074COL6A3c.4575T>G (p.Phe1525Leu)
c.5193T>G (p.Phe1731Leu)
c.3372T>G (p.Phe1124Leu)
c.4593T>G (p.Phe1531Leu)
c.3972T>G (p.Phe1324Leu)
c.4692T>G (p.Phe1564Leu)
c.5190T>G (p.Phe1730Leu)
c.2787T>G (p.Phe929Leu)
2g.237366994A>GCA431710745COL6A3c.4575T>C (p.Phe1525=)
c.5193T>C (p.Phe1731=)
c.3372T>C (p.Phe1124=)
c.4593T>C (p.Phe1531=)
c.3972T>C (p.Phe1324=)
c.4692T>C (p.Phe1564=)
c.5190T>C (p.Phe1730=)
c.2787T>C (p.Phe929=)
2g.237366994A>TCA351188075COL6A3c.4575T>A (p.Phe1525Leu)
c.5193T>A (p.Phe1731Leu)
c.3372T>A (p.Phe1124Leu)
c.4593T>A (p.Phe1531Leu)
c.3972T>A (p.Phe1324Leu)
c.4692T>A (p.Phe1564Leu)
c.5190T>A (p.Phe1730Leu)
c.2787T>A (p.Phe929Leu)
2g.237366995A>CCA351188077COL6A3c.4574T>G (p.Phe1525Cys)
c.5192T>G (p.Phe1731Cys)
c.3371T>G (p.Phe1124Cys)
c.4592T>G (p.Phe1531Cys)
c.3971T>G (p.Phe1324Cys)
c.4691T>G (p.Phe1564Cys)
c.5189T>G (p.Phe1730Cys)
c.2786T>G (p.Phe929Cys)
2g.237366995A>GCA351188080COL6A3c.4574T>C (p.Phe1525Ser)
c.5192T>C (p.Phe1731Ser)
c.3371T>C (p.Phe1124Ser)
c.4592T>C (p.Phe1531Ser)
c.3971T>C (p.Phe1324Ser)
c.4691T>C (p.Phe1564Ser)
c.5189T>C (p.Phe1730Ser)
c.2786T>C (p.Phe929Ser)
 gnomAD v4
2g.237366995A>TCA351188083COL6A3c.4574T>A (p.Phe1525Tyr)
c.5192T>A (p.Phe1731Tyr)
c.3371T>A (p.Phe1124Tyr)
c.4592T>A (p.Phe1531Tyr)
c.3971T>A (p.Phe1324Tyr)
c.4691T>A (p.Phe1564Tyr)
c.5189T>A (p.Phe1730Tyr)
c.2786T>A (p.Phe929Tyr)
2g.237366996A>CCA351188088COL6A3c.4573T>G (p.Phe1525Val)
c.5191T>G (p.Phe1731Val)
c.3370T>G (p.Phe1124Val)
c.4591T>G (p.Phe1531Val)
c.3970T>G (p.Phe1324Val)
c.4690T>G (p.Phe1564Val)
c.5188T>G (p.Phe1730Val)
c.2785T>G (p.Phe929Val)
 gnomAD v4
2g.237366996A>GCA351188091COL6A3c.4573T>C (p.Phe1525Leu)
c.5191T>C (p.Phe1731Leu)
c.3370T>C (p.Phe1124Leu)
c.4591T>C (p.Phe1531Leu)
c.3970T>C (p.Phe1324Leu)
c.4690T>C (p.Phe1564Leu)
c.5188T>C (p.Phe1730Leu)
c.2785T>C (p.Phe929Leu)
2g.237366996A>TCA351188095COL6A3c.4573T>A (p.Phe1525Ile)
c.5191T>A (p.Phe1731Ile)
c.3370T>A (p.Phe1124Ile)
c.4591T>A (p.Phe1531Ile)
c.3970T>A (p.Phe1324Ile)
c.4690T>A (p.Phe1564Ile)
c.5188T>A (p.Phe1730Ile)
c.2785T>A (p.Phe929Ile)
2g.237366997G>ACA431710750COL6A3c.4572C>T (p.His1524=)
c.5190C>T (p.His1730=)
c.3369C>T (p.His1123=)
c.4590C>T (p.His1530=)
c.3969C>T (p.His1323=)
c.4689C>T (p.His1563=)
c.5187C>T (p.His1729=)
c.2784C>T (p.His928=)
2g.237366997G>CCA351188098COL6A3c.4572C>G (p.His1524Gln)
c.5190C>G (p.His1730Gln)
c.3369C>G (p.His1123Gln)
c.4590C>G (p.His1530Gln)
c.3969C>G (p.His1323Gln)
c.4689C>G (p.His1563Gln)
c.5187C>G (p.His1729Gln)
c.2784C>G (p.His928Gln)
2g.237366997G>TCA351188101COL6A3c.4572C>A (p.His1524Gln)
c.5190C>A (p.His1730Gln)
c.3369C>A (p.His1123Gln)
c.4590C>A (p.His1530Gln)
c.3969C>A (p.His1323Gln)
c.4689C>A (p.His1563Gln)
c.5187C>A (p.His1729Gln)
c.2784C>A (p.His928Gln)
2g.237366998T>ACA351188116COL6A3c.4571A>T (p.His1524Leu)
c.5189A>T (p.His1730Leu)
c.3368A>T (p.His1123Leu)
c.4589A>T (p.His1530Leu)
c.3968A>T (p.His1323Leu)
c.4688A>T (p.His1563Leu)
c.5186A>T (p.His1729Leu)
c.2783A>T (p.His928Leu)
2g.237366998T>CCA351188105COL6A3c.4571A>G (p.His1524Arg)
c.5189A>G (p.His1730Arg)
c.3368A>G (p.His1123Arg)
c.4589A>G (p.His1530Arg)
c.3968A>G (p.His1323Arg)
c.4688A>G (p.His1563Arg)
c.5186A>G (p.His1729Arg)
c.2783A>G (p.His928Arg)
2g.237366998T>GCA351188107COL6A3c.4571A>C (p.His1524Pro)
c.5189A>C (p.His1730Pro)
c.3368A>C (p.His1123Pro)
c.4589A>C (p.His1530Pro)
c.3968A>C (p.His1323Pro)
c.4688A>C (p.His1563Pro)
c.5186A>C (p.His1729Pro)
c.2783A>C (p.His928Pro)
2g.237366999G>ACA351188120COL6A3c.4570C>T (p.His1524Tyr)
c.5188C>T (p.His1730Tyr)
c.3367C>T (p.His1123Tyr)
c.4588C>T (p.His1530Tyr)
c.3967C>T (p.His1323Tyr)
c.4687C>T (p.His1563Tyr)
c.5185C>T (p.His1729Tyr)
c.2782C>T (p.His928Tyr)
2g.237366999G>CCA351188123COL6A3c.4570C>G (p.His1524Asp)
c.5188C>G (p.His1730Asp)
c.3367C>G (p.His1123Asp)
c.4588C>G (p.His1530Asp)
c.3967C>G (p.His1323Asp)
c.4687C>G (p.His1563Asp)
c.5185C>G (p.His1729Asp)
c.2782C>G (p.His928Asp)
2g.237366999G>TCA351188125COL6A3c.4570C>A (p.His1524Asn)
c.5188C>A (p.His1730Asn)
c.3367C>A (p.His1123Asn)
c.4588C>A (p.His1530Asn)
c.3967C>A (p.His1323Asn)
c.4687C>A (p.His1563Asn)
c.5185C>A (p.His1729Asn)
c.2782C>A (p.His928Asn)
2g.237367000G>ACA431710756COL6A3c.4569C>T (p.Asn1523=)
c.5187C>T (p.Asn1729=)
c.3366C>T (p.Asn1122=)
c.4587C>T (p.Asn1529=)
c.3966C>T (p.Asn1322=)
c.4686C>T (p.Asn1562=)
c.5184C>T (p.Asn1728=)
c.2781C>T (p.Asn927=)
 gnomAD v4
2g.237367000G>CCA351188129COL6A3c.4569C>G (p.Asn1523Lys)
c.5187C>G (p.Asn1729Lys)
c.3366C>G (p.Asn1122Lys)
c.4587C>G (p.Asn1529Lys)
c.3966C>G (p.Asn1322Lys)
c.4686C>G (p.Asn1562Lys)
c.5184C>G (p.Asn1728Lys)
c.2781C>G (p.Asn927Lys)
2g.237367000G>TCA351188132COL6A3c.4569C>A (p.Asn1523Lys)
c.5187C>A (p.Asn1729Lys)
c.3366C>A (p.Asn1122Lys)
c.4587C>A (p.Asn1529Lys)
c.3966C>A (p.Asn1322Lys)
c.4686C>A (p.Asn1562Lys)
c.5184C>A (p.Asn1728Lys)
c.2781C>A (p.Asn927Lys)
 gnomAD v4
2g.237367001T>ACA351188136COL6A3c.4568A>T (p.Asn1523Ile)
c.5186A>T (p.Asn1729Ile)
c.3365A>T (p.Asn1122Ile)
c.4586A>T (p.Asn1529Ile)
c.3965A>T (p.Asn1322Ile)
c.4685A>T (p.Asn1562Ile)
c.5183A>T (p.Asn1728Ile)
c.2780A>T (p.Asn927Ile)
2g.237367001T>CCA351188139COL6A3c.4568A>G (p.Asn1523Ser)
c.5186A>G (p.Asn1729Ser)
c.3365A>G (p.Asn1122Ser)
c.4586A>G (p.Asn1529Ser)
c.3965A>G (p.Asn1322Ser)
c.4685A>G (p.Asn1562Ser)
c.5183A>G (p.Asn1728Ser)
c.2780A>G (p.Asn927Ser)
2g.237367001T>GCA351188140COL6A3c.4568A>C (p.Asn1523Thr)
c.5186A>C (p.Asn1729Thr)
c.3365A>C (p.Asn1122Thr)
c.4586A>C (p.Asn1529Thr)
c.3965A>C (p.Asn1322Thr)
c.4685A>C (p.Asn1562Thr)
c.5183A>C (p.Asn1728Thr)
c.2780A>C (p.Asn927Thr)
 dbSNP
2g.237367001T=CA1337620993COL6A3c.4568A= (p.Asn1523=)
c.5186A= (p.Asn1729=)
c.3365A= (p.Asn1122=)
c.4586A= (p.Asn1529=)
c.3965A= (p.Asn1322=)
c.4685A= (p.Asn1562=)
c.5183A= (p.Asn1728=)
c.2780A= (p.Asn927=)
2g.237367002T>ACA351188146COL6A3c.4567A>T (p.Asn1523Tyr)
c.5185A>T (p.Asn1729Tyr)
c.3364A>T (p.Asn1122Tyr)
c.4585A>T (p.Asn1529Tyr)
c.3964A>T (p.Asn1322Tyr)
c.4684A>T (p.Asn1562Tyr)
c.5182A>T (p.Asn1728Tyr)
c.2779A>T (p.Asn927Tyr)
 dbSNP
2g.237367002T>CCA351188148COL6A3c.4567A>G (p.Asn1523Asp)
c.5185A>G (p.Asn1729Asp)
c.3364A>G (p.Asn1122Asp)
c.4585A>G (p.Asn1529Asp)
c.3964A>G (p.Asn1322Asp)
c.4684A>G (p.Asn1562Asp)
c.5182A>G (p.Asn1728Asp)
c.2779A>G (p.Asn927Asp)
2g.237367002T>GCA351188151COL6A3c.4567A>C (p.Asn1523His)
c.5185A>C (p.Asn1729His)
c.3364A>C (p.Asn1122His)
c.4585A>C (p.Asn1529His)
c.3964A>C (p.Asn1322His)
c.4684A>C (p.Asn1562His)
c.5182A>C (p.Asn1728His)
c.2779A>C (p.Asn927His)
2g.237367002T=CA1337620994COL6A3c.4567A= (p.Asn1523=)
c.5185A= (p.Asn1729=)
c.3364A= (p.Asn1122=)
c.4585A= (p.Asn1529=)
c.3964A= (p.Asn1322=)
c.4684A= (p.Asn1562=)
c.5182A= (p.Asn1728=)
c.2779A= (p.Asn927=)
2g.237367003T>ACA431710766COL6A3c.4566A>T (p.Val1522=)
c.5184A>T (p.Val1728=)
c.3363A>T (p.Val1121=)
c.4584A>T (p.Val1528=)
c.3963A>T (p.Val1321=)
c.4683A>T (p.Val1561=)
c.5181A>T (p.Val1727=)
c.2778A>T (p.Val926=)
2g.237367003T>CCA431710764COL6A3c.4566A>G (p.Val1522=)
c.5184A>G (p.Val1728=)
c.3363A>G (p.Val1121=)
c.4584A>G (p.Val1528=)
c.3963A>G (p.Val1321=)
c.4683A>G (p.Val1561=)
c.5181A>G (p.Val1727=)
c.2778A>G (p.Val926=)
2g.237367003T>GCA431710765COL6A3c.4566A>C (p.Val1522=)
c.5184A>C (p.Val1728=)
c.3363A>C (p.Val1121=)
c.4584A>C (p.Val1528=)
c.3963A>C (p.Val1321=)
c.4683A>C (p.Val1561=)
c.5181A>C (p.Val1727=)
c.2778A>C (p.Val926=)
2g.237367004A>CCA351188161COL6A3c.4565T>G (p.Val1522Gly)
c.5183T>G (p.Val1728Gly)
c.3362T>G (p.Val1121Gly)
c.4583T>G (p.Val1528Gly)
c.3962T>G (p.Val1321Gly)
c.4682T>G (p.Val1561Gly)
c.5180T>G (p.Val1727Gly)
c.2777T>G (p.Val926Gly)
2g.237367004A>GCA351188158COL6A3c.4565T>C (p.Val1522Ala)
c.5183T>C (p.Val1728Ala)
c.3362T>C (p.Val1121Ala)
c.4583T>C (p.Val1528Ala)
c.3962T>C (p.Val1321Ala)
c.4682T>C (p.Val1561Ala)
c.5180T>C (p.Val1727Ala)
c.2777T>C (p.Val926Ala)
 COSMIC
2g.237367004A>TCA351188155COL6A3c.4565T>A (p.Val1522Glu)
c.5183T>A (p.Val1728Glu)
c.3362T>A (p.Val1121Glu)
c.4583T>A (p.Val1528Glu)
c.3962T>A (p.Val1321Glu)
c.4682T>A (p.Val1561Glu)
c.5180T>A (p.Val1727Glu)
c.2777T>A (p.Val926Glu)
2g.237367005C>ACA351188164COL6A3c.4564G>T (p.Val1522Leu)
c.5182G>T (p.Val1728Leu)
c.3361G>T (p.Val1121Leu)
c.4582G>T (p.Val1528Leu)
c.3961G>T (p.Val1321Leu)
c.4681G>T (p.Val1561Leu)
c.5179G>T (p.Val1727Leu)
c.2776G>T (p.Val926Leu)
 COSMIC
2g.237367005C=CA1337620995COL6A3c.4564G= (p.Val1522=)
c.5182G= (p.Val1728=)
c.3361G= (p.Val1121=)
c.4582G= (p.Val1528=)
c.3961G= (p.Val1321=)
c.4681G= (p.Val1561=)
c.5179G= (p.Val1727=)
c.2776G= (p.Val926=)
2g.237367005C>GCA351188169COL6A3c.4564G>C (p.Val1522Leu)
c.5182G>C (p.Val1728Leu)
c.3361G>C (p.Val1121Leu)
c.4582G>C (p.Val1528Leu)
c.3961G>C (p.Val1321Leu)
c.4681G>C (p.Val1561Leu)
c.5179G>C (p.Val1727Leu)
c.2776G>C (p.Val926Leu)
2g.237367005C>TCA2188721COL6A3c.4564G>A (p.Val1522Ile)
c.5182G>A (p.Val1728Ile)
c.3361G>A (p.Val1121Ile)
c.4582G>A (p.Val1528Ile)
c.3961G>A (p.Val1321Ile)
c.4681G>A (p.Val1561Ile)
c.5179G>A (p.Val1727Ile)
c.2776G>A (p.Val926Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367006C>ACA431710771COL6A3c.4563G>T (p.Arg1521=)
c.5181G>T (p.Arg1727=)
c.3360G>T (p.Arg1120=)
c.4581G>T (p.Arg1527=)
c.3960G>T (p.Arg1320=)
c.4680G>T (p.Arg1560=)
c.5178G>T (p.Arg1726=)
c.2775G>T (p.Arg925=)
 dbSNP gnomAD v4
2g.237367006C=CA1337620996COL6A3c.4563G= (p.Arg1521=)
c.5181G= (p.Arg1727=)
c.3360G= (p.Arg1120=)
c.4581G= (p.Arg1527=)
c.3960G= (p.Arg1320=)
c.4680G= (p.Arg1560=)
c.5178G= (p.Arg1726=)
c.2775G= (p.Arg925=)
2g.237367006C>GCA2188722COL6A3c.4563G>C (p.Arg1521=)
c.5181G>C (p.Arg1727=)
c.3360G>C (p.Arg1120=)
c.4581G>C (p.Arg1527=)
c.3960G>C (p.Arg1320=)
c.4680G>C (p.Arg1560=)
c.5178G>C (p.Arg1726=)
c.2775G>C (p.Arg925=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237367006C>TCA431710772COL6A3c.4563G>A (p.Arg1521=)
c.5181G>A (p.Arg1727=)
c.3360G>A (p.Arg1120=)
c.4581G>A (p.Arg1527=)
c.3960G>A (p.Arg1320=)
c.4680G>A (p.Arg1560=)
c.5178G>A (p.Arg1726=)
c.2775G>A (p.Arg925=)
2g.237367007C>ACA351188180COL6A3c.4562G>T (p.Arg1521Leu)
c.5180G>T (p.Arg1727Leu)
c.3359G>T (p.Arg1120Leu)
c.4580G>T (p.Arg1527Leu)
c.3959G>T (p.Arg1320Leu)
c.4679G>T (p.Arg1560Leu)
c.5177G>T (p.Arg1726Leu)
c.2774G>T (p.Arg925Leu)
2g.237367007C=CA1337620997COL6A3c.4562G= (p.Arg1521=)
c.5180G= (p.Arg1727=)
c.3359G= (p.Arg1120=)
c.4580G= (p.Arg1527=)
c.3959G= (p.Arg1320=)
c.4679G= (p.Arg1560=)
c.5177G= (p.Arg1726=)
c.2774G= (p.Arg925=)
2g.237367007C>GCA351188181COL6A3c.4562G>C (p.Arg1521Pro)
c.5180G>C (p.Arg1727Pro)
c.3359G>C (p.Arg1120Pro)
c.4580G>C (p.Arg1527Pro)
c.3959G>C (p.Arg1320Pro)
c.4679G>C (p.Arg1560Pro)
c.5177G>C (p.Arg1726Pro)
c.2774G>C (p.Arg925Pro)
2g.237367007C>TCA2188723COL6A3c.4562G>A (p.Arg1521Gln)
c.5180G>A (p.Arg1727Gln)
c.3359G>A (p.Arg1120Gln)
c.4580G>A (p.Arg1527Gln)
c.3959G>A (p.Arg1320Gln)
c.4679G>A (p.Arg1560Gln)
c.5177G>A (p.Arg1726Gln)
c.2774G>A (p.Arg925Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367008G>ACA2188724COL6A3c.4561C>T (p.Arg1521Trp)
c.5179C>T (p.Arg1727Trp)
c.3358C>T (p.Arg1120Trp)
c.4579C>T (p.Arg1527Trp)
c.3958C>T (p.Arg1320Trp)
c.4678C>T (p.Arg1560Trp)
c.5176C>T (p.Arg1726Trp)
c.2773C>T (p.Arg925Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237367008G>CCA351188188COL6A3c.4561C>G (p.Arg1521Gly)
c.5179C>G (p.Arg1727Gly)
c.3358C>G (p.Arg1120Gly)
c.4579C>G (p.Arg1527Gly)
c.3958C>G (p.Arg1320Gly)
c.4678C>G (p.Arg1560Gly)
c.5176C>G (p.Arg1726Gly)
c.2773C>G (p.Arg925Gly)
2g.237367008G=CA1337620998COL6A3c.4561C= (p.Arg1521=)
c.5179C= (p.Arg1727=)
c.3358C= (p.Arg1120=)
c.4579C= (p.Arg1527=)
c.3958C= (p.Arg1320=)
c.4678C= (p.Arg1560=)
c.5176C= (p.Arg1726=)
c.2773C= (p.Arg925=)
2g.237367008G>TCA431710776COL6A3c.4561C>A (p.Arg1521=)
c.5179C>A (p.Arg1727=)
c.3358C>A (p.Arg1120=)
c.4579C>A (p.Arg1527=)
c.3958C>A (p.Arg1320=)
c.4678C>A (p.Arg1560=)
c.5176C>A (p.Arg1726=)
c.2773C>A (p.Arg925=)
2g.237367009C>ACA431710777COL6A3c.4560G>T (p.Leu1520=)
c.5178G>T (p.Leu1726=)
c.3357G>T (p.Leu1119=)
c.4578G>T (p.Leu1526=)
c.3957G>T (p.Leu1319=)
c.4677G>T (p.Leu1559=)
c.5175G>T (p.Leu1725=)
c.2772G>T (p.Leu924=)
2g.237367009C=CA1337620999COL6A3c.4560G= (p.Leu1520=)
c.5178G= (p.Leu1726=)
c.3357G= (p.Leu1119=)
c.4578G= (p.Leu1526=)
c.3957G= (p.Leu1319=)
c.4677G= (p.Leu1559=)
c.5175G= (p.Leu1725=)
c.2772G= (p.Leu924=)
2g.237367009C>GCA431710778COL6A3c.4560G>C (p.Leu1520=)
c.5178G>C (p.Leu1726=)
c.3357G>C (p.Leu1119=)
c.4578G>C (p.Leu1526=)
c.3957G>C (p.Leu1319=)
c.4677G>C (p.Leu1559=)
c.5175G>C (p.Leu1725=)
c.2772G>C (p.Leu924=)
2g.237367009C>TCA67814512COL6A3c.4560G>A (p.Leu1520=)
c.5178G>A (p.Leu1726=)
c.3357G>A (p.Leu1119=)
c.4578G>A (p.Leu1526=)
c.3957G>A (p.Leu1319=)
c.4677G>A (p.Leu1559=)
c.5175G>A (p.Leu1725=)
c.2772G>A (p.Leu924=)
 dbSNP
2g.237367010A=CA1337621000COL6A3c.4559T= (p.Leu1520=)
c.5177T= (p.Leu1726=)
c.3356T= (p.Leu1119=)
c.4577T= (p.Leu1526=)
c.3956T= (p.Leu1319=)
c.4676T= (p.Leu1559=)
c.5174T= (p.Leu1725=)
c.2771T= (p.Leu924=)
2g.237367010A>CCA257718COL6A3c.4559T>G (p.Leu1520Arg)
c.5177T>G (p.Leu1726Arg)
c.3356T>G (p.Leu1119Arg)
c.4577T>G (p.Leu1526Arg)
c.3956T>G (p.Leu1319Arg)
c.4676T>G (p.Leu1559Arg)
c.5174T>G (p.Leu1725Arg)
c.2771T>G (p.Leu924Arg)
 ClinVar dbSNP
2g.237367010A>GCA351188195COL6A3c.4559T>C (p.Leu1520Pro)
c.5177T>C (p.Leu1726Pro)
c.3356T>C (p.Leu1119Pro)
c.4577T>C (p.Leu1526Pro)
c.3956T>C (p.Leu1319Pro)
c.4676T>C (p.Leu1559Pro)
c.5174T>C (p.Leu1725Pro)
c.2771T>C (p.Leu924Pro)
2g.237367010A>TCA351188199COL6A3c.4559T>A (p.Leu1520Gln)
c.5177T>A (p.Leu1726Gln)
c.3356T>A (p.Leu1119Gln)
c.4577T>A (p.Leu1526Gln)
c.3956T>A (p.Leu1319Gln)
c.4676T>A (p.Leu1559Gln)
c.5174T>A (p.Leu1725Gln)
c.2771T>A (p.Leu924Gln)
2g.237367013_237367021delCA2586965623COL6A3c.4551_4559del (p.Glu1518_Leu1520del)
c.5169_5177del (p.Glu1724_Leu1726del)
c.3348_3356del (p.Glu1117_Leu1119del)
c.4569_4577del (p.Glu1524_Leu1526del)
c.3948_3956del (p.Glu1317_Leu1319del)
c.4668_4676del (p.Glu1557_Leu1559del)
c.5166_5174del (p.Glu1723_Leu1725del)
c.2763_2771del (p.Glu922_Leu924del)
2g.237367011G>ACA431710779COL6A3c.4558C>T (p.Leu1520=)
c.5176C>T (p.Leu1726=)
c.3355C>T (p.Leu1119=)
c.4576C>T (p.Leu1526=)
c.3955C>T (p.Leu1319=)
c.4675C>T (p.Leu1559=)
c.5173C>T (p.Leu1725=)
c.2770C>T (p.Leu924=)
2g.237367011G>CCA351188201COL6A3c.4558C>G (p.Leu1520Val)
c.5176C>G (p.Leu1726Val)
c.3355C>G (p.Leu1119Val)
c.4576C>G (p.Leu1526Val)
c.3955C>G (p.Leu1319Val)
c.4675C>G (p.Leu1559Val)
c.5173C>G (p.Leu1725Val)
c.2770C>G (p.Leu924Val)
2g.237367011G>TCA351188204COL6A3c.4558C>A (p.Leu1520Met)
c.5176C>A (p.Leu1726Met)
c.3355C>A (p.Leu1119Met)
c.4576C>A (p.Leu1526Met)
c.3955C>A (p.Leu1319Met)
c.4675C>A (p.Leu1559Met)
c.5173C>A (p.Leu1725Met)
c.2770C>A (p.Leu924Met)
 ClinVar dbSNP
2g.237367012G>ACA431710780COL6A3c.4557C>T (p.His1519=)
c.5175C>T (p.His1725=)
c.3354C>T (p.His1118=)
c.4575C>T (p.His1525=)
c.3954C>T (p.His1318=)
c.4674C>T (p.His1558=)
c.5172C>T (p.His1724=)
c.2769C>T (p.His923=)
2g.237367012G>CCA351188205COL6A3c.4557C>G (p.His1519Gln)
c.5175C>G (p.His1725Gln)
c.3354C>G (p.His1118Gln)
c.4575C>G (p.His1525Gln)
c.3954C>G (p.His1318Gln)
c.4674C>G (p.His1558Gln)
c.5172C>G (p.His1724Gln)
c.2769C>G (p.His923Gln)
2g.237367012G>TCA351188206COL6A3c.4557C>A (p.His1519Gln)
c.5175C>A (p.His1725Gln)
c.3354C>A (p.His1118Gln)
c.4575C>A (p.His1525Gln)
c.3954C>A (p.His1318Gln)
c.4674C>A (p.His1558Gln)
c.5172C>A (p.His1724Gln)
c.2769C>A (p.His923Gln)
 gnomAD v4
2g.237367013T>ACA351188208COL6A3c.4556A>T (p.His1519Leu)
c.5174A>T (p.His1725Leu)
c.3353A>T (p.His1118Leu)
c.4574A>T (p.His1525Leu)
c.3953A>T (p.His1318Leu)
c.4673A>T (p.His1558Leu)
c.5171A>T (p.His1724Leu)
c.2768A>T (p.His923Leu)
2g.237367013T>CCA351188209COL6A3c.4556A>G (p.His1519Arg)
c.5174A>G (p.His1725Arg)
c.3353A>G (p.His1118Arg)
c.4574A>G (p.His1525Arg)
c.3953A>G (p.His1318Arg)
c.4673A>G (p.His1558Arg)
c.5171A>G (p.His1724Arg)
c.2768A>G (p.His923Arg)
2g.237367013T>GCA351188212COL6A3c.4556A>C (p.His1519Pro)
c.5174A>C (p.His1725Pro)
c.3353A>C (p.His1118Pro)
c.4574A>C (p.His1525Pro)
c.3953A>C (p.His1318Pro)
c.4673A>C (p.His1558Pro)
c.5171A>C (p.His1724Pro)
c.2768A>C (p.His923Pro)
 ClinVar dbSNP
2g.237367013T=CA1337621001COL6A3c.4556A= (p.His1519=)
c.5174A= (p.His1725=)
c.3353A= (p.His1118=)
c.4574A= (p.His1525=)
c.3953A= (p.His1318=)
c.4673A= (p.His1558=)
c.5171A= (p.His1724=)
c.2768A= (p.His923=)
2g.237367014G>ACA2188725COL6A3c.4555C>T (p.His1519Tyr)
c.5173C>T (p.His1725Tyr)
c.3352C>T (p.His1118Tyr)
c.4573C>T (p.His1525Tyr)
c.3952C>T (p.His1318Tyr)
c.4672C>T (p.His1558Tyr)
c.5170C>T (p.His1724Tyr)
c.2767C>T (p.His923Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237367014G>CCA351188215COL6A3c.4555C>G (p.His1519Asp)
c.5173C>G (p.His1725Asp)
c.3352C>G (p.His1118Asp)
c.4573C>G (p.His1525Asp)
c.3952C>G (p.His1318Asp)
c.4672C>G (p.His1558Asp)
c.5170C>G (p.His1724Asp)
c.2767C>G (p.His923Asp)
2g.237367014G=CA1337621002COL6A3c.4555C= (p.His1519=)
c.5173C= (p.His1725=)
c.3352C= (p.His1118=)
c.4573C= (p.His1525=)
c.3952C= (p.His1318=)
c.4672C= (p.His1558=)
c.5170C= (p.His1724=)
c.2767C= (p.His923=)
2g.237367014G>TCA351188216COL6A3c.4555C>A (p.His1519Asn)
c.5173C>A (p.His1725Asn)
c.3352C>A (p.His1118Asn)
c.4573C>A (p.His1525Asn)
c.3952C>A (p.His1318Asn)
c.4672C>A (p.His1558Asn)
c.5170C>A (p.His1724Asn)
c.2767C>A (p.His923Asn)
2g.237367015C>ACA351188217COL6A3c.4554G>T (p.Glu1518Asp)
c.5172G>T (p.Glu1724Asp)
c.3351G>T (p.Glu1117Asp)
c.4572G>T (p.Glu1524Asp)
c.3951G>T (p.Glu1317Asp)
c.4671G>T (p.Glu1557Asp)
c.5169G>T (p.Glu1723Asp)
c.2766G>T (p.Glu922Asp)
2g.237367015C=CA1337621003COL6A3c.4554G= (p.Glu1518=)
c.5172G= (p.Glu1724=)
c.3351G= (p.Glu1117=)
c.4572G= (p.Glu1524=)
c.3951G= (p.Glu1317=)
c.4671G= (p.Glu1557=)
c.5169G= (p.Glu1723=)
c.2766G= (p.Glu922=)
2g.237367015C>GCA351188218COL6A3c.4554G>C (p.Glu1518Asp)
c.5172G>C (p.Glu1724Asp)
c.3351G>C (p.Glu1117Asp)
c.4572G>C (p.Glu1524Asp)
c.3951G>C (p.Glu1317Asp)
c.4671G>C (p.Glu1557Asp)
c.5169G>C (p.Glu1723Asp)
c.2766G>C (p.Glu922Asp)
2g.237367015C>TCA67814531COL6A3c.4554G>A (p.Glu1518=)
c.5172G>A (p.Glu1724=)
c.3351G>A (p.Glu1117=)
c.4572G>A (p.Glu1524=)
c.3951G>A (p.Glu1317=)
c.4671G>A (p.Glu1557=)
c.5169G>A (p.Glu1723=)
c.2766G>A (p.Glu922=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237367016T>ACA351188221COL6A3c.4553A>T (p.Glu1518Val)
c.5171A>T (p.Glu1724Val)
c.3350A>T (p.Glu1117Val)
c.4571A>T (p.Glu1524Val)
c.3950A>T (p.Glu1317Val)
c.4670A>T (p.Glu1557Val)
c.5168A>T (p.Glu1723Val)
c.2765A>T (p.Glu922Val)
2g.237367016T>CCA351188223COL6A3c.4553A>G (p.Glu1518Gly)
c.5171A>G (p.Glu1724Gly)
c.3350A>G (p.Glu1117Gly)
c.4571A>G (p.Glu1524Gly)
c.3950A>G (p.Glu1317Gly)
c.4670A>G (p.Glu1557Gly)
c.5168A>G (p.Glu1723Gly)
c.2765A>G (p.Glu922Gly)
2g.237367016T>GCA351188227COL6A3c.4553A>C (p.Glu1518Ala)
c.5171A>C (p.Glu1724Ala)
c.3350A>C (p.Glu1117Ala)
c.4571A>C (p.Glu1524Ala)
c.3950A>C (p.Glu1317Ala)
c.4670A>C (p.Glu1557Ala)
c.5168A>C (p.Glu1723Ala)
c.2765A>C (p.Glu922Ala)
2g.237367017C>ACA351188236COL6A3c.4552G>T (p.Glu1518Ter)
c.5170G>T (p.Glu1724Ter)
c.3349G>T (p.Glu1117Ter)
c.4570G>T (p.Glu1524Ter)
c.3949G>T (p.Glu1317Ter)
c.4669G>T (p.Glu1557Ter)
c.5167G>T (p.Glu1723Ter)
c.2764G>T (p.Glu922Ter)
2g.237367017C=CA1337621004COL6A3c.4552G= (p.Glu1518=)
c.5170G= (p.Glu1724=)
c.3349G= (p.Glu1117=)
c.4570G= (p.Glu1524=)
c.3949G= (p.Glu1317=)
c.4669G= (p.Glu1557=)
c.5167G= (p.Glu1723=)
c.2764G= (p.Glu922=)
2g.237367017C>GCA351188231COL6A3c.4552G>C (p.Glu1518Gln)
c.5170G>C (p.Glu1724Gln)
c.3349G>C (p.Glu1117Gln)
c.4570G>C (p.Glu1524Gln)
c.3949G>C (p.Glu1317Gln)
c.4669G>C (p.Glu1557Gln)
c.5167G>C (p.Glu1723Gln)
c.2764G>C (p.Glu922Gln)
2g.237367017C>TCA222617COL6A3c.4552G>A (p.Glu1518Lys)
c.5170G>A (p.Glu1724Lys)
c.3349G>A (p.Glu1117Lys)
c.4570G>A (p.Glu1524Lys)
c.3949G>A (p.Glu1317Lys)
c.4669G>A (p.Glu1557Lys)
c.5167G>A (p.Glu1723Lys)
c.2764G>A (p.Glu922Lys)
 ClinVar dbSNP gnomAD v4
2g.237367018A>CCA431710792COL6A3c.4551T>G (p.Leu1517=)
c.5169T>G (p.Leu1723=)
c.3348T>G (p.Leu1116=)
c.4569T>G (p.Leu1523=)
c.3948T>G (p.Leu1316=)
c.4668T>G (p.Leu1556=)
c.5166T>G (p.Leu1722=)
c.2763T>G (p.Leu921=)
2g.237367018A>GCA431710793COL6A3c.4551T>C (p.Leu1517=)
c.5169T>C (p.Leu1723=)
c.3348T>C (p.Leu1116=)
c.4569T>C (p.Leu1523=)
c.3948T>C (p.Leu1316=)
c.4668T>C (p.Leu1556=)
c.5166T>C (p.Leu1722=)
c.2763T>C (p.Leu921=)
2g.237367018A>TCA431710794COL6A3c.4551T>A (p.Leu1517=)
c.5169T>A (p.Leu1723=)
c.3348T>A (p.Leu1116=)
c.4569T>A (p.Leu1523=)
c.3948T>A (p.Leu1316=)
c.4668T>A (p.Leu1556=)
c.5166T>A (p.Leu1722=)
c.2763T>A (p.Leu921=)
2g.237367019A>CCA351188239COL6A3c.4550T>G (p.Leu1517Arg)
c.5168T>G (p.Leu1723Arg)
c.3347T>G (p.Leu1116Arg)
c.4568T>G (p.Leu1523Arg)
c.3947T>G (p.Leu1316Arg)
c.4667T>G (p.Leu1556Arg)
c.5165T>G (p.Leu1722Arg)
c.2762T>G (p.Leu921Arg)
 ClinVar
2g.237367019A>GCA351188242COL6A3c.4550T>C (p.Leu1517Pro)
c.5168T>C (p.Leu1723Pro)
c.3347T>C (p.Leu1116Pro)
c.4568T>C (p.Leu1523Pro)
c.3947T>C (p.Leu1316Pro)
c.4667T>C (p.Leu1556Pro)
c.5165T>C (p.Leu1722Pro)
c.2762T>C (p.Leu921Pro)
2g.237367019A>TCA351188246COL6A3c.4550T>A (p.Leu1517His)
c.5168T>A (p.Leu1723His)
c.3347T>A (p.Leu1116His)
c.4568T>A (p.Leu1523His)
c.3947T>A (p.Leu1316His)
c.4667T>A (p.Leu1556His)
c.5165T>A (p.Leu1722His)
c.2762T>A (p.Leu921His)
2g.237367020G>ACA351188251COL6A3c.4549C>T (p.Leu1517Phe)
c.5167C>T (p.Leu1723Phe)
c.3346C>T (p.Leu1116Phe)
c.4567C>T (p.Leu1523Phe)
c.3946C>T (p.Leu1316Phe)
c.4666C>T (p.Leu1556Phe)
c.5164C>T (p.Leu1722Phe)
c.2761C>T (p.Leu921Phe)
 gnomAD v4
2g.237367020G>CCA351188254COL6A3c.4549C>G (p.Leu1517Val)
c.5167C>G (p.Leu1723Val)
c.3346C>G (p.Leu1116Val)
c.4567C>G (p.Leu1523Val)
c.3946C>G (p.Leu1316Val)
c.4666C>G (p.Leu1556Val)
c.5164C>G (p.Leu1722Val)
c.2761C>G (p.Leu921Val)
 gnomAD v4
2g.237367020G>TCA351188257COL6A3c.4549C>A (p.Leu1517Ile)
c.5167C>A (p.Leu1723Ile)
c.3346C>A (p.Leu1116Ile)
c.4567C>A (p.Leu1523Ile)
c.3946C>A (p.Leu1316Ile)
c.4666C>A (p.Leu1556Ile)
c.5164C>A (p.Leu1722Ile)
c.2761C>A (p.Leu921Ile)
 COSMIC
2g.237367021G>ACA431710796COL6A3c.4548C>T (p.Gly1516=)
c.5166C>T (p.Gly1722=)
c.3345C>T (p.Gly1115=)
c.4566C>T (p.Gly1522=)
c.3945C>T (p.Gly1315=)
c.4665C>T (p.Gly1555=)
c.5163C>T (p.Gly1721=)
c.2760C>T (p.Gly920=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237367021G>CCA431710797COL6A3c.4548C>G (p.Gly1516=)
c.5166C>G (p.Gly1722=)
c.3345C>G (p.Gly1115=)
c.4566C>G (p.Gly1522=)
c.3945C>G (p.Gly1315=)
c.4665C>G (p.Gly1555=)
c.5163C>G (p.Gly1721=)
c.2760C>G (p.Gly920=)
2g.237367021G=CA1337621005COL6A3c.4548C= (p.Gly1516=)
c.5166C= (p.Gly1722=)
c.3345C= (p.Gly1115=)
c.4566C= (p.Gly1522=)
c.3945C= (p.Gly1315=)
c.4665C= (p.Gly1555=)
c.5163C= (p.Gly1721=)
c.2760C= (p.Gly920=)
2g.237367021G>TCA431710798COL6A3c.4548C>A (p.Gly1516=)
c.5166C>A (p.Gly1722=)
c.3345C>A (p.Gly1115=)
c.4566C>A (p.Gly1522=)
c.3945C>A (p.Gly1315=)
c.4665C>A (p.Gly1555=)
c.5163C>A (p.Gly1721=)
c.2760C>A (p.Gly920=)
2g.237367022C>ACA351188261COL6A3c.4547G>T (p.Gly1516Val)
c.5165G>T (p.Gly1722Val)
c.3344G>T (p.Gly1115Val)
c.4565G>T (p.Gly1522Val)
c.3944G>T (p.Gly1315Val)
c.4664G>T (p.Gly1555Val)
c.5162G>T (p.Gly1721Val)
c.2759G>T (p.Gly920Val)
2g.237367022C=CA1337621006COL6A3c.4547G= (p.Gly1516=)
c.5165G= (p.Gly1722=)
c.3344G= (p.Gly1115=)
c.4565G= (p.Gly1522=)
c.3944G= (p.Gly1315=)
c.4664G= (p.Gly1555=)
c.5162G= (p.Gly1721=)
c.2759G= (p.Gly920=)
2g.237367022C>GCA351188263COL6A3c.4547G>C (p.Gly1516Ala)
c.5165G>C (p.Gly1722Ala)
c.3344G>C (p.Gly1115Ala)
c.4565G>C (p.Gly1522Ala)
c.3944G>C (p.Gly1315Ala)
c.4664G>C (p.Gly1555Ala)
c.5162G>C (p.Gly1721Ala)
c.2759G>C (p.Gly920Ala)
2g.237367022C>TCA351188265COL6A3c.4547G>A (p.Gly1516Asp)
c.5165G>A (p.Gly1722Asp)
c.3344G>A (p.Gly1115Asp)
c.4565G>A (p.Gly1522Asp)
c.3944G>A (p.Gly1315Asp)
c.4664G>A (p.Gly1555Asp)
c.5162G>A (p.Gly1721Asp)
c.2759G>A (p.Gly920Asp)
 ClinVar dbSNP
2g.237367023C>ACA351188271COL6A3c.4546G>T (p.Gly1516Cys)
c.5164G>T (p.Gly1722Cys)
c.3343G>T (p.Gly1115Cys)
c.4564G>T (p.Gly1522Cys)
c.3943G>T (p.Gly1315Cys)
c.4663G>T (p.Gly1555Cys)
c.5161G>T (p.Gly1721Cys)
c.2758G>T (p.Gly920Cys)
2g.237367023C>GCA351188273COL6A3c.4546G>C (p.Gly1516Arg)
c.5164G>C (p.Gly1722Arg)
c.3343G>C (p.Gly1115Arg)
c.4564G>C (p.Gly1522Arg)
c.3943G>C (p.Gly1315Arg)
c.4663G>C (p.Gly1555Arg)
c.5161G>C (p.Gly1721Arg)
c.2758G>C (p.Gly920Arg)
2g.237367023C>TCA351188274COL6A3c.4546G>A (p.Gly1516Ser)
c.5164G>A (p.Gly1722Ser)
c.3343G>A (p.Gly1115Ser)
c.4564G>A (p.Gly1522Ser)
c.3943G>A (p.Gly1315Ser)
c.4663G>A (p.Gly1555Ser)
c.5161G>A (p.Gly1721Ser)
c.2758G>A (p.Gly920Ser)
2g.237367024C>ACA2188726COL6A3c.4545G>T (p.Val1515=)
c.5163G>T (p.Val1721=)
c.3342G>T (p.Val1114=)
c.4563G>T (p.Val1521=)
c.3942G>T (p.Val1314=)
c.4662G>T (p.Val1554=)
c.5160G>T (p.Val1720=)
c.2757G>T (p.Val919=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.237367024C=CA1337621007COL6A3c.4545G= (p.Val1515=)
c.5163G= (p.Val1721=)
c.3342G= (p.Val1114=)
c.4563G= (p.Val1521=)
c.3942G= (p.Val1314=)
c.4662G= (p.Val1554=)
c.5160G= (p.Val1720=)
c.2757G= (p.Val919=)
2g.237367024C>GCA431710803COL6A3c.4545G>C (p.Val1515=)
c.5163G>C (p.Val1721=)
c.3342G>C (p.Val1114=)
c.4563G>C (p.Val1521=)
c.3942G>C (p.Val1314=)
c.4662G>C (p.Val1554=)
c.5160G>C (p.Val1720=)
c.2757G>C (p.Val919=)
2g.237367024C>TCA2188727COL6A3c.4545G>A (p.Val1515=)
c.5163G>A (p.Val1721=)
c.3342G>A (p.Val1114=)
c.4563G>A (p.Val1521=)
c.3942G>A (p.Val1314=)
c.4662G>A (p.Val1554=)
c.5160G>A (p.Val1720=)
c.2757G>A (p.Val919=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367025A=CA1337621008COL6A3c.4544T= (p.Val1515=)
c.5162T= (p.Val1721=)
c.3341T= (p.Val1114=)
c.4562T= (p.Val1521=)
c.3941T= (p.Val1314=)
c.4661T= (p.Val1554=)
c.5159T= (p.Val1720=)
c.2756T= (p.Val919=)
2g.237367025A>CCA351188287COL6A3c.4544T>G (p.Val1515Gly)
c.5162T>G (p.Val1721Gly)
c.3341T>G (p.Val1114Gly)
c.4562T>G (p.Val1521Gly)
c.3941T>G (p.Val1314Gly)
c.4661T>G (p.Val1554Gly)
c.5159T>G (p.Val1720Gly)
c.2756T>G (p.Val919Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.237367025A>GCA2188728COL6A3c.4544T>C (p.Val1515Ala)
c.5162T>C (p.Val1721Ala)
c.3341T>C (p.Val1114Ala)
c.4562T>C (p.Val1521Ala)
c.3941T>C (p.Val1314Ala)
c.4661T>C (p.Val1554Ala)
c.5159T>C (p.Val1720Ala)
c.2756T>C (p.Val919Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367025A>TCA351188283COL6A3c.4544T>A (p.Val1515Glu)
c.5162T>A (p.Val1721Glu)
c.3341T>A (p.Val1114Glu)
c.4562T>A (p.Val1521Glu)
c.3941T>A (p.Val1314Glu)
c.4661T>A (p.Val1554Glu)
c.5159T>A (p.Val1720Glu)
c.2756T>A (p.Val919Glu)
2g.237367026C>ACA351188292COL6A3c.4543G>T (p.Val1515Leu)
c.5161G>T (p.Val1721Leu)
c.3340G>T (p.Val1114Leu)
c.4561G>T (p.Val1521Leu)
c.3940G>T (p.Val1314Leu)
c.4660G>T (p.Val1554Leu)
c.5158G>T (p.Val1720Leu)
c.2755G>T (p.Val919Leu)
2g.237367026C>GCA351188296COL6A3c.4543G>C (p.Val1515Leu)
c.5161G>C (p.Val1721Leu)
c.3340G>C (p.Val1114Leu)
c.4561G>C (p.Val1521Leu)
c.3940G>C (p.Val1314Leu)
c.4660G>C (p.Val1554Leu)
c.5158G>C (p.Val1720Leu)
c.2755G>C (p.Val919Leu)
2g.237367026C>TCA351188299COL6A3c.4543G>A (p.Val1515Met)
c.5161G>A (p.Val1721Met)
c.3340G>A (p.Val1114Met)
c.4561G>A (p.Val1521Met)
c.3940G>A (p.Val1314Met)
c.4660G>A (p.Val1554Met)
c.5158G>A (p.Val1720Met)
c.2755G>A (p.Val919Met)
 gnomAD v4
2g.237367027C>ACA351188302COL6A3c.4542G>T (p.Lys1514Asn)
c.5160G>T (p.Lys1720Asn)
c.3339G>T (p.Lys1113Asn)
c.4560G>T (p.Lys1520Asn)
c.3939G>T (p.Lys1313Asn)
c.4659G>T (p.Lys1553Asn)
c.5157G>T (p.Lys1719Asn)
c.2754G>T (p.Lys918Asn)
2g.237367027C>GCA351188304COL6A3c.4542G>C (p.Lys1514Asn)
c.5160G>C (p.Lys1720Asn)
c.3339G>C (p.Lys1113Asn)
c.4560G>C (p.Lys1520Asn)
c.3939G>C (p.Lys1313Asn)
c.4659G>C (p.Lys1553Asn)
c.5157G>C (p.Lys1719Asn)
c.2754G>C (p.Lys918Asn)
2g.237367027C>TCA431710810COL6A3c.4542G>A (p.Lys1514=)
c.5160G>A (p.Lys1720=)
c.3339G>A (p.Lys1113=)
c.4560G>A (p.Lys1520=)
c.3939G>A (p.Lys1313=)
c.4659G>A (p.Lys1553=)
c.5157G>A (p.Lys1719=)
c.2754G>A (p.Lys918=)
 COSMIC
2g.237367028T>ACA351188308COL6A3c.4541A>T (p.Lys1514Met)
c.5159A>T (p.Lys1720Met)
c.3338A>T (p.Lys1113Met)
c.4559A>T (p.Lys1520Met)
c.3938A>T (p.Lys1313Met)
c.4658A>T (p.Lys1553Met)
c.5156A>T (p.Lys1719Met)
c.2753A>T (p.Lys918Met)
2g.237367028T>CCA351188310COL6A3c.4541A>G (p.Lys1514Arg)
c.5159A>G (p.Lys1720Arg)
c.3338A>G (p.Lys1113Arg)
c.4559A>G (p.Lys1520Arg)
c.3938A>G (p.Lys1313Arg)
c.4658A>G (p.Lys1553Arg)
c.5156A>G (p.Lys1719Arg)
c.2753A>G (p.Lys918Arg)
 ClinVar dbSNP gnomAD v4
2g.237367028T>GCA351188314COL6A3c.4541A>C (p.Lys1514Thr)
c.5159A>C (p.Lys1720Thr)
c.3338A>C (p.Lys1113Thr)
c.4559A>C (p.Lys1520Thr)
c.3938A>C (p.Lys1313Thr)
c.4658A>C (p.Lys1553Thr)
c.5156A>C (p.Lys1719Thr)
c.2753A>C (p.Lys918Thr)
2g.237367028T=CA1337621009COL6A3c.4541A= (p.Lys1514=)
c.5159A= (p.Lys1720=)
c.3338A= (p.Lys1113=)
c.4559A= (p.Lys1520=)
c.3938A= (p.Lys1313=)
c.4658A= (p.Lys1553=)
c.5156A= (p.Lys1719=)
c.2753A= (p.Lys918=)
2g.237367029T>ACA351188317COL6A3c.4540A>T (p.Lys1514Ter)
c.5158A>T (p.Lys1720Ter)
c.3337A>T (p.Lys1113Ter)
c.4558A>T (p.Lys1520Ter)
c.3937A>T (p.Lys1313Ter)
c.4657A>T (p.Lys1553Ter)
c.5155A>T (p.Lys1719Ter)
c.2752A>T (p.Lys918Ter)
2g.237367029T>CCA351188319COL6A3c.4540A>G (p.Lys1514Glu)
c.5158A>G (p.Lys1720Glu)
c.3337A>G (p.Lys1113Glu)
c.4558A>G (p.Lys1520Glu)
c.3937A>G (p.Lys1313Glu)
c.4657A>G (p.Lys1553Glu)
c.5155A>G (p.Lys1719Glu)
c.2752A>G (p.Lys918Glu)
2g.237367029T>GCA2188729COL6A3c.4540A>C (p.Lys1514Gln)
c.5158A>C (p.Lys1720Gln)
c.3337A>C (p.Lys1113Gln)
c.4558A>C (p.Lys1520Gln)
c.3937A>C (p.Lys1313Gln)
c.4657A>C (p.Lys1553Gln)
c.5155A>C (p.Lys1719Gln)
c.2752A>C (p.Lys918Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237367029T=CA1337621010COL6A3c.4540A= (p.Lys1514=)
c.5158A= (p.Lys1720=)
c.3337A= (p.Lys1113=)
c.4558A= (p.Lys1520=)
c.3937A= (p.Lys1313=)
c.4657A= (p.Lys1553=)
c.5155A= (p.Lys1719=)
c.2752A= (p.Lys918=)
2g.237367030A>CCA431710814COL6A3c.4539T>G (p.Thr1513=)
c.5157T>G (p.Thr1719=)
c.3336T>G (p.Thr1112=)
c.4557T>G (p.Thr1519=)
c.3936T>G (p.Thr1312=)
c.4656T>G (p.Thr1552=)
c.5154T>G (p.Thr1718=)
c.2751T>G (p.Thr917=)
2g.237367030A>GCA431710815COL6A3c.4539T>C (p.Thr1513=)
c.5157T>C (p.Thr1719=)
c.3336T>C (p.Thr1112=)
c.4557T>C (p.Thr1519=)
c.3936T>C (p.Thr1312=)
c.4656T>C (p.Thr1552=)
c.5154T>C (p.Thr1718=)
c.2751T>C (p.Thr917=)
2g.237367030A>TCA431710816COL6A3c.4539T>A (p.Thr1513=)
c.5157T>A (p.Thr1719=)
c.3336T>A (p.Thr1112=)
c.4557T>A (p.Thr1519=)
c.3936T>A (p.Thr1312=)
c.4656T>A (p.Thr1552=)
c.5154T>A (p.Thr1718=)
c.2751T>A (p.Thr917=)
2g.237367031G>ACA2188730COL6A3c.4538C>T (p.Thr1513Ile)
c.5156C>T (p.Thr1719Ile)
c.3335C>T (p.Thr1112Ile)
c.4556C>T (p.Thr1519Ile)
c.3935C>T (p.Thr1312Ile)
c.4655C>T (p.Thr1552Ile)
c.5153C>T (p.Thr1718Ile)
c.2750C>T (p.Thr917Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237367031G>CCA351188322COL6A3c.4538C>G (p.Thr1513Ser)
c.5156C>G (p.Thr1719Ser)
c.3335C>G (p.Thr1112Ser)
c.4556C>G (p.Thr1519Ser)
c.3935C>G (p.Thr1312Ser)
c.4655C>G (p.Thr1552Ser)
c.5153C>G (p.Thr1718Ser)
c.2750C>G (p.Thr917Ser)
2g.237367031G=CA1337621011COL6A3c.4538C= (p.Thr1513=)
c.5156C= (p.Thr1719=)
c.3335C= (p.Thr1112=)
c.4556C= (p.Thr1519=)
c.3935C= (p.Thr1312=)
c.4655C= (p.Thr1552=)
c.5153C= (p.Thr1718=)
c.2750C= (p.Thr917=)
2g.237367031G>TCA351188324COL6A3c.4538C>A (p.Thr1513Asn)
c.5156C>A (p.Thr1719Asn)
c.3335C>A (p.Thr1112Asn)
c.4556C>A (p.Thr1519Asn)
c.3935C>A (p.Thr1312Asn)
c.4655C>A (p.Thr1552Asn)
c.5153C>A (p.Thr1718Asn)
c.2750C>A (p.Thr917Asn)
2g.237367032T>ACA351188331COL6A3c.4537A>T (p.Thr1513Ser)
c.5155A>T (p.Thr1719Ser)
c.3334A>T (p.Thr1112Ser)
c.4555A>T (p.Thr1519Ser)
c.3934A>T (p.Thr1312Ser)
c.4654A>T (p.Thr1552Ser)
c.5152A>T (p.Thr1718Ser)
c.2749A>T (p.Thr917Ser)
 dbSNP gnomAD v2
2g.237367032T>CCA351188333COL6A3c.4537A>G (p.Thr1513Ala)
c.5155A>G (p.Thr1719Ala)
c.3334A>G (p.Thr1112Ala)
c.4555A>G (p.Thr1519Ala)
c.3934A>G (p.Thr1312Ala)
c.4654A>G (p.Thr1552Ala)
c.5152A>G (p.Thr1718Ala)
c.2749A>G (p.Thr917Ala)
2g.237367032T>GCA351188327COL6A3c.4537A>C (p.Thr1513Pro)
c.5155A>C (p.Thr1719Pro)
c.3334A>C (p.Thr1112Pro)
c.4555A>C (p.Thr1519Pro)
c.3934A>C (p.Thr1312Pro)
c.4654A>C (p.Thr1552Pro)
c.5152A>C (p.Thr1718Pro)
c.2749A>C (p.Thr917Pro)
2g.237367032T=CA1337621012COL6A3c.4537A= (p.Thr1513=)
c.5155A= (p.Thr1719=)
c.3334A= (p.Thr1112=)
c.4555A= (p.Thr1519=)
c.3934A= (p.Thr1312=)
c.4654A= (p.Thr1552=)
c.5152A= (p.Thr1718=)
c.2749A= (p.Thr917=)

Number of alleles fetched