Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33164337C>ACA363616049COL11A2n.806G>T
c.5000G>T (p.Arg1667Leu)
c.4679G>T (p.Arg1560Leu)
c.4742G>T (p.Arg1581Leu)
n.790G>T
c.4154G>T (p.Arg1385Leu)
c.4286G>T (p.Arg1429Leu)
c.4106G>T (p.Arg1369Leu)
c.4043G>T (p.Arg1348Leu)
c.3887G>T (p.Arg1296Leu)
c.3818G>T (p.Arg1273Leu)
 dbSNP
6g.33164337C=CA1619889641COL11A2n.806G=
c.5000G= (p.Arg1667=)
c.4679G= (p.Arg1560=)
c.4742G= (p.Arg1581=)
n.790G=
c.4154G= (p.Arg1385=)
c.4286G= (p.Arg1429=)
c.4106G= (p.Arg1369=)
c.4043G= (p.Arg1348=)
c.3887G= (p.Arg1296=)
c.3818G= (p.Arg1273=)
6g.33164337C>GCA363616050COL11A2n.806G>C
c.5000G>C (p.Arg1667Pro)
c.4679G>C (p.Arg1560Pro)
c.4742G>C (p.Arg1581Pro)
n.790G>C
c.4154G>C (p.Arg1385Pro)
c.4286G>C (p.Arg1429Pro)
c.4106G>C (p.Arg1369Pro)
c.4043G>C (p.Arg1348Pro)
c.3887G>C (p.Arg1296Pro)
c.3818G>C (p.Arg1273Pro)
6g.33164337C>TCA182105COL11A2n.806G>A
c.5000G>A (p.Arg1667His)
c.4679G>A (p.Arg1560His)
c.4742G>A (p.Arg1581His)
n.790G>A
c.4154G>A (p.Arg1385His)
c.4286G>A (p.Arg1429His)
c.4106G>A (p.Arg1369His)
c.4043G>A (p.Arg1348His)
c.3887G>A (p.Arg1296His)
c.3818G>A (p.Arg1273His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164338G>ACA3749939COL11A2n.805C>T
c.4999C>T (p.Arg1667Cys)
c.4678C>T (p.Arg1560Cys)
c.4741C>T (p.Arg1581Cys)
n.789C>T
c.4153C>T (p.Arg1385Cys)
c.4285C>T (p.Arg1429Cys)
c.4105C>T (p.Arg1369Cys)
c.4042C>T (p.Arg1348Cys)
c.3886C>T (p.Arg1296Cys)
c.3817C>T (p.Arg1273Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164338G>CCA363616053COL11A2n.805C>G
c.4999C>G (p.Arg1667Gly)
c.4678C>G (p.Arg1560Gly)
c.4741C>G (p.Arg1581Gly)
n.789C>G
c.4153C>G (p.Arg1385Gly)
c.4285C>G (p.Arg1429Gly)
c.4105C>G (p.Arg1369Gly)
c.4042C>G (p.Arg1348Gly)
c.3886C>G (p.Arg1296Gly)
c.3817C>G (p.Arg1273Gly)
6g.33164338G=CA1619889648COL11A2n.805C=
c.4999C= (p.Arg1667=)
c.4678C= (p.Arg1560=)
c.4741C= (p.Arg1581=)
n.789C=
c.4153C= (p.Arg1385=)
c.4285C= (p.Arg1429=)
c.4105C= (p.Arg1369=)
c.4042C= (p.Arg1348=)
c.3886C= (p.Arg1296=)
c.3817C= (p.Arg1273=)
6g.33164338G>TCA363616055COL11A2n.805C>A
c.4999C>A (p.Arg1667Ser)
c.4678C>A (p.Arg1560Ser)
c.4741C>A (p.Arg1581Ser)
n.789C>A
c.4153C>A (p.Arg1385Ser)
c.4285C>A (p.Arg1429Ser)
c.4105C>A (p.Arg1369Ser)
c.4042C>A (p.Arg1348Ser)
c.3886C>A (p.Arg1296Ser)
c.3817C>A (p.Arg1273Ser)
 ClinVar dbSNP
6g.33164339G>ACA449866947COL11A2n.804C>T
c.4998C>T (p.Leu1666=)
c.4677C>T (p.Leu1559=)
c.4740C>T (p.Leu1580=)
n.788C>T
c.4152C>T (p.Leu1384=)
c.4284C>T (p.Leu1428=)
c.4104C>T (p.Leu1368=)
c.4041C>T (p.Leu1347=)
c.3885C>T (p.Leu1295=)
c.3816C>T (p.Leu1272=)
 gnomAD v4 COSMIC
6g.33164339G>CCA449866948COL11A2n.804C>G
c.4998C>G (p.Leu1666=)
c.4677C>G (p.Leu1559=)
c.4740C>G (p.Leu1580=)
n.788C>G
c.4152C>G (p.Leu1384=)
c.4284C>G (p.Leu1428=)
c.4104C>G (p.Leu1368=)
c.4041C>G (p.Leu1347=)
c.3885C>G (p.Leu1295=)
c.3816C>G (p.Leu1272=)
6g.33164339G>TCA449866949COL11A2n.804C>A
c.4998C>A (p.Leu1666=)
c.4677C>A (p.Leu1559=)
c.4740C>A (p.Leu1580=)
n.788C>A
c.4152C>A (p.Leu1384=)
c.4284C>A (p.Leu1428=)
c.4104C>A (p.Leu1368=)
c.4041C>A (p.Leu1347=)
c.3885C>A (p.Leu1295=)
c.3816C>A (p.Leu1272=)
6g.33164340A=CA1619889650COL11A2n.803T=
c.4997T= (p.Leu1666=)
c.4676T= (p.Leu1559=)
c.4739T= (p.Leu1580=)
n.787T=
c.4151T= (p.Leu1384=)
c.4283T= (p.Leu1428=)
c.4103T= (p.Leu1368=)
c.4040T= (p.Leu1347=)
c.3884T= (p.Leu1295=)
c.3815T= (p.Leu1272=)
6g.33164340A>CCA363616056COL11A2n.803T>G
c.4997T>G (p.Leu1666Arg)
c.4676T>G (p.Leu1559Arg)
c.4739T>G (p.Leu1580Arg)
n.787T>G
c.4151T>G (p.Leu1384Arg)
c.4283T>G (p.Leu1428Arg)
c.4103T>G (p.Leu1368Arg)
c.4040T>G (p.Leu1347Arg)
c.3884T>G (p.Leu1295Arg)
c.3815T>G (p.Leu1272Arg)
6g.33164340A>GCA363616058COL11A2n.803T>C
c.4997T>C (p.Leu1666Pro)
c.4676T>C (p.Leu1559Pro)
c.4739T>C (p.Leu1580Pro)
n.787T>C
c.4151T>C (p.Leu1384Pro)
c.4283T>C (p.Leu1428Pro)
c.4103T>C (p.Leu1368Pro)
c.4040T>C (p.Leu1347Pro)
c.3884T>C (p.Leu1295Pro)
c.3815T>C (p.Leu1272Pro)
 dbSNP gnomAD v2 gnomAD v4
6g.33164340A>TCA363616060COL11A2n.803T>A
c.4997T>A (p.Leu1666His)
c.4676T>A (p.Leu1559His)
c.4739T>A (p.Leu1580His)
n.787T>A
c.4151T>A (p.Leu1384His)
c.4283T>A (p.Leu1428His)
c.4103T>A (p.Leu1368His)
c.4040T>A (p.Leu1347His)
c.3884T>A (p.Leu1295His)
c.3815T>A (p.Leu1272His)
6g.33164341G>ACA363616062COL11A2n.802C>T
c.4996C>T (p.Leu1666Phe)
c.4675C>T (p.Leu1559Phe)
c.4738C>T (p.Leu1580Phe)
n.786C>T
c.4150C>T (p.Leu1384Phe)
c.4282C>T (p.Leu1428Phe)
c.4102C>T (p.Leu1368Phe)
c.4039C>T (p.Leu1347Phe)
c.3883C>T (p.Leu1295Phe)
c.3814C>T (p.Leu1272Phe)
6g.33164341G>CCA363616063COL11A2n.802C>G
c.4996C>G (p.Leu1666Val)
c.4675C>G (p.Leu1559Val)
c.4738C>G (p.Leu1580Val)
n.786C>G
c.4150C>G (p.Leu1384Val)
c.4282C>G (p.Leu1428Val)
c.4102C>G (p.Leu1368Val)
c.4039C>G (p.Leu1347Val)
c.3883C>G (p.Leu1295Val)
c.3814C>G (p.Leu1272Val)
6g.33164341G>TCA363616065COL11A2n.802C>A
c.4996C>A (p.Leu1666Ile)
c.4675C>A (p.Leu1559Ile)
c.4738C>A (p.Leu1580Ile)
n.786C>A
c.4150C>A (p.Leu1384Ile)
c.4282C>A (p.Leu1428Ile)
c.4102C>A (p.Leu1368Ile)
c.4039C>A (p.Leu1347Ile)
c.3883C>A (p.Leu1295Ile)
c.3814C>A (p.Leu1272Ile)
6g.33164342T>ACA363616067COL11A2n.801A>T
c.4995A>T (p.Arg1665Ser)
c.4674A>T (p.Arg1558Ser)
c.4737A>T (p.Arg1579Ser)
n.785A>T
c.4149A>T (p.Arg1383Ser)
c.4281A>T (p.Arg1427Ser)
c.4101A>T (p.Arg1367Ser)
c.4038A>T (p.Arg1346Ser)
c.3882A>T (p.Arg1294Ser)
c.3813A>T (p.Arg1271Ser)
6g.33164342T>CCA449866950COL11A2n.801A>G
c.4995A>G (p.Arg1665=)
c.4674A>G (p.Arg1558=)
c.4737A>G (p.Arg1579=)
n.785A>G
c.4149A>G (p.Arg1383=)
c.4281A>G (p.Arg1427=)
c.4101A>G (p.Arg1367=)
c.4038A>G (p.Arg1346=)
c.3882A>G (p.Arg1294=)
c.3813A>G (p.Arg1271=)
6g.33164342T>GCA363616068COL11A2n.801A>C
c.4995A>C (p.Arg1665Ser)
c.4674A>C (p.Arg1558Ser)
c.4737A>C (p.Arg1579Ser)
n.785A>C
c.4149A>C (p.Arg1383Ser)
c.4281A>C (p.Arg1427Ser)
c.4101A>C (p.Arg1367Ser)
c.4038A>C (p.Arg1346Ser)
c.3882A>C (p.Arg1294Ser)
c.3813A>C (p.Arg1271Ser)
6g.33164343C>ACA363616075COL11A2n.800G>T
c.4994G>T (p.Arg1665Ile)
c.4673G>T (p.Arg1558Ile)
c.4736G>T (p.Arg1579Ile)
n.784G>T
c.4148G>T (p.Arg1383Ile)
c.4280G>T (p.Arg1427Ile)
c.4100G>T (p.Arg1367Ile)
c.4037G>T (p.Arg1346Ile)
c.3881G>T (p.Arg1294Ile)
c.3812G>T (p.Arg1271Ile)
6g.33164343C=CA1619889653COL11A2n.800G=
c.4994G= (p.Arg1665=)
c.4673G= (p.Arg1558=)
c.4736G= (p.Arg1579=)
n.784G=
c.4148G= (p.Arg1383=)
c.4280G= (p.Arg1427=)
c.4100G= (p.Arg1367=)
c.4037G= (p.Arg1346=)
c.3881G= (p.Arg1294=)
c.3812G= (p.Arg1271=)
6g.33164343C>GCA363616072COL11A2n.800G>C
c.4994G>C (p.Arg1665Thr)
c.4673G>C (p.Arg1558Thr)
c.4736G>C (p.Arg1579Thr)
n.784G>C
c.4148G>C (p.Arg1383Thr)
c.4280G>C (p.Arg1427Thr)
c.4100G>C (p.Arg1367Thr)
c.4037G>C (p.Arg1346Thr)
c.3881G>C (p.Arg1294Thr)
c.3812G>C (p.Arg1271Thr)
6g.33164343C>TCA363616070COL11A2n.800G>A
c.4994G>A (p.Arg1665Lys)
c.4673G>A (p.Arg1558Lys)
c.4736G>A (p.Arg1579Lys)
n.784G>A
c.4148G>A (p.Arg1383Lys)
c.4280G>A (p.Arg1427Lys)
c.4100G>A (p.Arg1367Lys)
c.4037G>A (p.Arg1346Lys)
c.3881G>A (p.Arg1294Lys)
c.3812G>A (p.Arg1271Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33164344T>ACA363616077COL11A2n.799A>T
c.4993A>T (p.Arg1665Ter)
c.4672A>T (p.Arg1558Ter)
c.4735A>T (p.Arg1579Ter)
n.783A>T
c.4147A>T (p.Arg1383Ter)
c.4279A>T (p.Arg1427Ter)
c.4099A>T (p.Arg1367Ter)
c.4036A>T (p.Arg1346Ter)
c.3880A>T (p.Arg1294Ter)
c.3811A>T (p.Arg1271Ter)
6g.33164344T>CCA363616080COL11A2n.799A>G
c.4993A>G (p.Arg1665Gly)
c.4672A>G (p.Arg1558Gly)
c.4735A>G (p.Arg1579Gly)
n.783A>G
c.4147A>G (p.Arg1383Gly)
c.4279A>G (p.Arg1427Gly)
c.4099A>G (p.Arg1367Gly)
c.4036A>G (p.Arg1346Gly)
c.3880A>G (p.Arg1294Gly)
c.3811A>G (p.Arg1271Gly)
6g.33164344T>GCA449866951COL11A2n.799A>C
c.4993A>C (p.Arg1665=)
c.4672A>C (p.Arg1558=)
c.4735A>C (p.Arg1579=)
n.783A>C
c.4147A>C (p.Arg1383=)
c.4279A>C (p.Arg1427=)
c.4099A>C (p.Arg1367=)
c.4036A>C (p.Arg1346=)
c.3880A>C (p.Arg1294=)
c.3811A>C (p.Arg1271=)
6g.33164345C>ACA449866952COL11A2n.798G>T
c.4992G>T (p.Leu1664=)
c.4671G>T (p.Leu1557=)
c.4734G>T (p.Leu1578=)
n.782G>T
c.4146G>T (p.Leu1382=)
c.4278G>T (p.Leu1426=)
c.4098G>T (p.Leu1366=)
c.4035G>T (p.Leu1345=)
c.3879G>T (p.Leu1293=)
c.3810G>T (p.Leu1270=)
6g.33164345C>GCA449866953COL11A2n.798G>C
c.4992G>C (p.Leu1664=)
c.4671G>C (p.Leu1557=)
c.4734G>C (p.Leu1578=)
n.782G>C
c.4146G>C (p.Leu1382=)
c.4278G>C (p.Leu1426=)
c.4098G>C (p.Leu1366=)
c.4035G>C (p.Leu1345=)
c.3879G>C (p.Leu1293=)
c.3810G>C (p.Leu1270=)
6g.33164345C>TCA449866954COL11A2n.798G>A
c.4992G>A (p.Leu1664=)
c.4671G>A (p.Leu1557=)
c.4734G>A (p.Leu1578=)
n.782G>A
c.4146G>A (p.Leu1382=)
c.4278G>A (p.Leu1426=)
c.4098G>A (p.Leu1366=)
c.4035G>A (p.Leu1345=)
c.3879G>A (p.Leu1293=)
c.3810G>A (p.Leu1270=)
 gnomAD v4
6g.33164346A=CA1619889658COL11A2n.797T=
c.4991T= (p.Leu1664=)
c.4670T= (p.Leu1557=)
c.4733T= (p.Leu1578=)
n.781T=
c.4145T= (p.Leu1382=)
c.4277T= (p.Leu1426=)
c.4097T= (p.Leu1366=)
c.4034T= (p.Leu1345=)
c.3878T= (p.Leu1293=)
c.3809T= (p.Leu1270=)
6g.33164346A>CCA363616082COL11A2n.797T>G
c.4991T>G (p.Leu1664Arg)
c.4670T>G (p.Leu1557Arg)
c.4733T>G (p.Leu1578Arg)
n.781T>G
c.4145T>G (p.Leu1382Arg)
c.4277T>G (p.Leu1426Arg)
c.4097T>G (p.Leu1366Arg)
c.4034T>G (p.Leu1345Arg)
c.3878T>G (p.Leu1293Arg)
c.3809T>G (p.Leu1270Arg)
 ClinVar
6g.33164346A>GCA137061412COL11A2n.797T>C
c.4991T>C (p.Leu1664Pro)
c.4670T>C (p.Leu1557Pro)
c.4733T>C (p.Leu1578Pro)
n.781T>C
c.4145T>C (p.Leu1382Pro)
c.4277T>C (p.Leu1426Pro)
c.4097T>C (p.Leu1366Pro)
c.4034T>C (p.Leu1345Pro)
c.3878T>C (p.Leu1293Pro)
c.3809T>C (p.Leu1270Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164346A>TCA363616084COL11A2n.797T>A
c.4991T>A (p.Leu1664Gln)
c.4670T>A (p.Leu1557Gln)
c.4733T>A (p.Leu1578Gln)
n.781T>A
c.4145T>A (p.Leu1382Gln)
c.4277T>A (p.Leu1426Gln)
c.4097T>A (p.Leu1366Gln)
c.4034T>A (p.Leu1345Gln)
c.3878T>A (p.Leu1293Gln)
c.3809T>A (p.Leu1270Gln)
6g.33164347G>ACA449866955COL11A2n.796C>T
c.4990C>T (p.Leu1664=)
c.4669C>T (p.Leu1557=)
c.4732C>T (p.Leu1578=)
n.780C>T
c.4144C>T (p.Leu1382=)
c.4276C>T (p.Leu1426=)
c.4096C>T (p.Leu1366=)
c.4033C>T (p.Leu1345=)
c.3877C>T (p.Leu1293=)
c.3808C>T (p.Leu1270=)
 ClinVar
6g.33164347G>CCA363616087COL11A2n.796C>G
c.4990C>G (p.Leu1664Val)
c.4669C>G (p.Leu1557Val)
c.4732C>G (p.Leu1578Val)
n.780C>G
c.4144C>G (p.Leu1382Val)
c.4276C>G (p.Leu1426Val)
c.4096C>G (p.Leu1366Val)
c.4033C>G (p.Leu1345Val)
c.3877C>G (p.Leu1293Val)
c.3808C>G (p.Leu1270Val)
6g.33164347G>TCA363616088COL11A2n.796C>A
c.4990C>A (p.Leu1664Met)
c.4669C>A (p.Leu1557Met)
c.4732C>A (p.Leu1578Met)
n.780C>A
c.4144C>A (p.Leu1382Met)
c.4276C>A (p.Leu1426Met)
c.4096C>A (p.Leu1366Met)
c.4033C>A (p.Leu1345Met)
c.3877C>A (p.Leu1293Met)
c.3808C>A (p.Leu1270Met)
6g.33164348G>ACA449866957COL11A2n.795C>T
c.4989C>T (p.Pro1663=)
c.4668C>T (p.Pro1556=)
c.4731C>T (p.Pro1577=)
n.779C>T
c.4143C>T (p.Pro1381=)
c.4275C>T (p.Pro1425=)
c.4095C>T (p.Pro1365=)
c.4032C>T (p.Pro1344=)
c.3876C>T (p.Pro1292=)
c.3807C>T (p.Pro1269=)
6g.33164348G>CCA449866956COL11A2n.795C>G
c.4989C>G (p.Pro1663=)
c.4668C>G (p.Pro1556=)
c.4731C>G (p.Pro1577=)
n.779C>G
c.4143C>G (p.Pro1381=)
c.4275C>G (p.Pro1425=)
c.4095C>G (p.Pro1365=)
c.4032C>G (p.Pro1344=)
c.3876C>G (p.Pro1292=)
c.3807C>G (p.Pro1269=)
6g.33164348G>TCA449866958COL11A2n.795C>A
c.4989C>A (p.Pro1663=)
c.4668C>A (p.Pro1556=)
c.4731C>A (p.Pro1577=)
n.779C>A
c.4143C>A (p.Pro1381=)
c.4275C>A (p.Pro1425=)
c.4095C>A (p.Pro1365=)
c.4032C>A (p.Pro1344=)
c.3876C>A (p.Pro1292=)
c.3807C>A (p.Pro1269=)
 gnomAD v4
6g.33164349G>ACA363616097COL11A2n.794C>T
c.4988C>T (p.Pro1663Leu)
c.4667C>T (p.Pro1556Leu)
c.4730C>T (p.Pro1577Leu)
n.778C>T
c.4142C>T (p.Pro1381Leu)
c.4274C>T (p.Pro1425Leu)
c.4094C>T (p.Pro1365Leu)
c.4031C>T (p.Pro1344Leu)
c.3875C>T (p.Pro1292Leu)
c.3806C>T (p.Pro1269Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.33164349G>CCA363616094COL11A2n.794C>G
c.4988C>G (p.Pro1663Arg)
c.4667C>G (p.Pro1556Arg)
c.4730C>G (p.Pro1577Arg)
n.778C>G
c.4142C>G (p.Pro1381Arg)
c.4274C>G (p.Pro1425Arg)
c.4094C>G (p.Pro1365Arg)
c.4031C>G (p.Pro1344Arg)
c.3875C>G (p.Pro1292Arg)
c.3806C>G (p.Pro1269Arg)
6g.33164349G=CA1619889664COL11A2n.794C=
c.4988C= (p.Pro1663=)
c.4667C= (p.Pro1556=)
c.4730C= (p.Pro1577=)
n.778C=
c.4142C= (p.Pro1381=)
c.4274C= (p.Pro1425=)
c.4094C= (p.Pro1365=)
c.4031C= (p.Pro1344=)
c.3875C= (p.Pro1292=)
c.3806C= (p.Pro1269=)
6g.33164349G>TCA363616091COL11A2n.794C>A
c.4988C>A (p.Pro1663His)
c.4667C>A (p.Pro1556His)
c.4730C>A (p.Pro1577His)
n.778C>A
c.4142C>A (p.Pro1381His)
c.4274C>A (p.Pro1425His)
c.4094C>A (p.Pro1365His)
c.4031C>A (p.Pro1344His)
c.3875C>A (p.Pro1292His)
c.3806C>A (p.Pro1269His)
6g.33164350G>ACA363616098COL11A2n.793C>T
c.4987C>T (p.Pro1663Ser)
c.4666C>T (p.Pro1556Ser)
c.4729C>T (p.Pro1577Ser)
n.777C>T
c.4141C>T (p.Pro1381Ser)
c.4273C>T (p.Pro1425Ser)
c.4093C>T (p.Pro1365Ser)
c.4030C>T (p.Pro1344Ser)
c.3874C>T (p.Pro1292Ser)
c.3805C>T (p.Pro1269Ser)
 dbSNP gnomAD v4
6g.33164350G>CCA363616100COL11A2n.793C>G
c.4987C>G (p.Pro1663Ala)
c.4666C>G (p.Pro1556Ala)
c.4729C>G (p.Pro1577Ala)
n.777C>G
c.4141C>G (p.Pro1381Ala)
c.4273C>G (p.Pro1425Ala)
c.4093C>G (p.Pro1365Ala)
c.4030C>G (p.Pro1344Ala)
c.3874C>G (p.Pro1292Ala)
c.3805C>G (p.Pro1269Ala)
6g.33164350G=CA1619889667COL11A2n.793C=
c.4987C= (p.Pro1663=)
c.4666C= (p.Pro1556=)
c.4729C= (p.Pro1577=)
n.777C=
c.4141C= (p.Pro1381=)
c.4273C= (p.Pro1425=)
c.4093C= (p.Pro1365=)
c.4030C= (p.Pro1344=)
c.3874C= (p.Pro1292=)
c.3805C= (p.Pro1269=)
6g.33164350G>TCA363616103COL11A2n.793C>A
c.4987C>A (p.Pro1663Thr)
c.4666C>A (p.Pro1556Thr)
c.4729C>A (p.Pro1577Thr)
n.777C>A
c.4141C>A (p.Pro1381Thr)
c.4273C>A (p.Pro1425Thr)
c.4093C>A (p.Pro1365Thr)
c.4030C>A (p.Pro1344Thr)
c.3874C>A (p.Pro1292Thr)
c.3805C>A (p.Pro1269Thr)
6g.33164351A>CCA449866959COL11A2n.792T>G
c.4986T>G (p.Gly1662=)
c.4665T>G (p.Gly1555=)
c.4728T>G (p.Gly1576=)
n.776T>G
c.4140T>G (p.Gly1380=)
c.4272T>G (p.Gly1424=)
c.4092T>G (p.Gly1364=)
c.4029T>G (p.Gly1343=)
c.3873T>G (p.Gly1291=)
c.3804T>G (p.Gly1268=)
6g.33164351A>GCA449866960COL11A2n.792T>C
c.4986T>C (p.Gly1662=)
c.4665T>C (p.Gly1555=)
c.4728T>C (p.Gly1576=)
n.776T>C
c.4140T>C (p.Gly1380=)
c.4272T>C (p.Gly1424=)
c.4092T>C (p.Gly1364=)
c.4029T>C (p.Gly1343=)
c.3873T>C (p.Gly1291=)
c.3804T>C (p.Gly1268=)
6g.33164351A>TCA449866961COL11A2n.792T>A
c.4986T>A (p.Gly1662=)
c.4665T>A (p.Gly1555=)
c.4728T>A (p.Gly1576=)
n.776T>A
c.4140T>A (p.Gly1380=)
c.4272T>A (p.Gly1424=)
c.4092T>A (p.Gly1364=)
c.4029T>A (p.Gly1343=)
c.3873T>A (p.Gly1291=)
c.3804T>A (p.Gly1268=)
 gnomAD v4
6g.33164352C>ACA363616106COL11A2n.791G>T
c.4985G>T (p.Gly1662Val)
c.4664G>T (p.Gly1555Val)
c.4727G>T (p.Gly1576Val)
n.775G>T
c.4139G>T (p.Gly1380Val)
c.4271G>T (p.Gly1424Val)
c.4091G>T (p.Gly1364Val)
c.4028G>T (p.Gly1343Val)
c.3872G>T (p.Gly1291Val)
c.3803G>T (p.Gly1268Val)
6g.33164352C>GCA363616107COL11A2n.791G>C
c.4985G>C (p.Gly1662Ala)
c.4664G>C (p.Gly1555Ala)
c.4727G>C (p.Gly1576Ala)
n.775G>C
c.4139G>C (p.Gly1380Ala)
c.4271G>C (p.Gly1424Ala)
c.4091G>C (p.Gly1364Ala)
c.4028G>C (p.Gly1343Ala)
c.3872G>C (p.Gly1291Ala)
c.3803G>C (p.Gly1268Ala)
6g.33164352C>TCA363616110COL11A2n.791G>A
c.4985G>A (p.Gly1662Asp)
c.4664G>A (p.Gly1555Asp)
c.4727G>A (p.Gly1576Asp)
n.775G>A
c.4139G>A (p.Gly1380Asp)
c.4271G>A (p.Gly1424Asp)
c.4091G>A (p.Gly1364Asp)
c.4028G>A (p.Gly1343Asp)
c.3872G>A (p.Gly1291Asp)
c.3803G>A (p.Gly1268Asp)
6g.33164353C>ACA363616117COL11A2n.790G>T
c.4984G>T (p.Gly1662Cys)
c.4663G>T (p.Gly1555Cys)
c.4726G>T (p.Gly1576Cys)
n.774G>T
c.4138G>T (p.Gly1380Cys)
c.4270G>T (p.Gly1424Cys)
c.4090G>T (p.Gly1364Cys)
c.4027G>T (p.Gly1343Cys)
c.3871G>T (p.Gly1291Cys)
c.3802G>T (p.Gly1268Cys)
6g.33164353C=CA1619889669COL11A2n.790G=
c.4984G= (p.Gly1662=)
c.4663G= (p.Gly1555=)
c.4726G= (p.Gly1576=)
n.774G=
c.4138G= (p.Gly1380=)
c.4270G= (p.Gly1424=)
c.4090G= (p.Gly1364=)
c.4027G= (p.Gly1343=)
c.3871G= (p.Gly1291=)
c.3802G= (p.Gly1268=)
6g.33164353C>GCA363616113COL11A2n.790G>C
c.4984G>C (p.Gly1662Arg)
c.4663G>C (p.Gly1555Arg)
c.4726G>C (p.Gly1576Arg)
n.774G>C
c.4138G>C (p.Gly1380Arg)
c.4270G>C (p.Gly1424Arg)
c.4090G>C (p.Gly1364Arg)
c.4027G>C (p.Gly1343Arg)
c.3871G>C (p.Gly1291Arg)
c.3802G>C (p.Gly1268Arg)
6g.33164353C>TCA363616115COL11A2n.790G>A
c.4984G>A (p.Gly1662Ser)
c.4663G>A (p.Gly1555Ser)
c.4726G>A (p.Gly1576Ser)
n.774G>A
c.4138G>A (p.Gly1380Ser)
c.4270G>A (p.Gly1424Ser)
c.4090G>A (p.Gly1364Ser)
c.4027G>A (p.Gly1343Ser)
c.3871G>A (p.Gly1291Ser)
c.3802G>A (p.Gly1268Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33164354G>ACA3749940COL11A2n.789C>T
c.4983C>T (p.Asp1661=)
c.4662C>T (p.Asp1554=)
c.4725C>T (p.Asp1575=)
n.773C>T
c.4137C>T (p.Asp1379=)
c.4269C>T (p.Asp1423=)
c.4089C>T (p.Asp1363=)
c.4026C>T (p.Asp1342=)
c.3870C>T (p.Asp1290=)
c.3801C>T (p.Asp1267=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33164354G>CCA363616120COL11A2n.789C>G
c.4983C>G (p.Asp1661Glu)
c.4662C>G (p.Asp1554Glu)
c.4725C>G (p.Asp1575Glu)
n.773C>G
c.4137C>G (p.Asp1379Glu)
c.4269C>G (p.Asp1423Glu)
c.4089C>G (p.Asp1363Glu)
c.4026C>G (p.Asp1342Glu)
c.3870C>G (p.Asp1290Glu)
c.3801C>G (p.Asp1267Glu)
6g.33164354G=CA1619889675COL11A2n.789C=
c.4983C= (p.Asp1661=)
c.4662C= (p.Asp1554=)
c.4725C= (p.Asp1575=)
n.773C=
c.4137C= (p.Asp1379=)
c.4269C= (p.Asp1423=)
c.4089C= (p.Asp1363=)
c.4026C= (p.Asp1342=)
c.3870C= (p.Asp1290=)
c.3801C= (p.Asp1267=)
6g.33164354G>TCA363616122COL11A2n.789C>A
c.4983C>A (p.Asp1661Glu)
c.4662C>A (p.Asp1554Glu)
c.4725C>A (p.Asp1575Glu)
n.773C>A
c.4137C>A (p.Asp1379Glu)
c.4269C>A (p.Asp1423Glu)
c.4089C>A (p.Asp1363Glu)
c.4026C>A (p.Asp1342Glu)
c.3870C>A (p.Asp1290Glu)
c.3801C>A (p.Asp1267Glu)
 gnomAD v4
6g.33164355T>ACA363616125COL11A2n.788A>T
c.4982A>T (p.Asp1661Val)
c.4661A>T (p.Asp1554Val)
c.4724A>T (p.Asp1575Val)
n.772A>T
c.4136A>T (p.Asp1379Val)
c.4268A>T (p.Asp1423Val)
c.4088A>T (p.Asp1363Val)
c.4025A>T (p.Asp1342Val)
c.3869A>T (p.Asp1290Val)
c.3800A>T (p.Asp1267Val)
 dbSNP gnomAD v3 gnomAD v4
6g.33164355T>CCA363616127COL11A2n.788A>G
c.4982A>G (p.Asp1661Gly)
c.4661A>G (p.Asp1554Gly)
c.4724A>G (p.Asp1575Gly)
n.772A>G
c.4136A>G (p.Asp1379Gly)
c.4268A>G (p.Asp1423Gly)
c.4088A>G (p.Asp1363Gly)
c.4025A>G (p.Asp1342Gly)
c.3869A>G (p.Asp1290Gly)
c.3800A>G (p.Asp1267Gly)
6g.33164355T>GCA363616128COL11A2n.788A>C
c.4982A>C (p.Asp1661Ala)
c.4661A>C (p.Asp1554Ala)
c.4724A>C (p.Asp1575Ala)
n.772A>C
c.4136A>C (p.Asp1379Ala)
c.4268A>C (p.Asp1423Ala)
c.4088A>C (p.Asp1363Ala)
c.4025A>C (p.Asp1342Ala)
c.3869A>C (p.Asp1290Ala)
c.3800A>C (p.Asp1267Ala)
6g.33164355T=CA1619889680COL11A2n.788A=
c.4982A= (p.Asp1661=)
c.4661A= (p.Asp1554=)
c.4724A= (p.Asp1575=)
n.772A=
c.4136A= (p.Asp1379=)
c.4268A= (p.Asp1423=)
c.4088A= (p.Asp1363=)
c.4025A= (p.Asp1342=)
c.3869A= (p.Asp1290=)
c.3800A= (p.Asp1267=)
6g.33164356C>ACA363616131COL11A2n.787G>T
c.4981G>T (p.Asp1661Tyr)
c.4660G>T (p.Asp1554Tyr)
c.4723G>T (p.Asp1575Tyr)
n.771G>T
c.4135G>T (p.Asp1379Tyr)
c.4267G>T (p.Asp1423Tyr)
c.4087G>T (p.Asp1363Tyr)
c.4024G>T (p.Asp1342Tyr)
c.3868G>T (p.Asp1290Tyr)
c.3799G>T (p.Asp1267Tyr)
 gnomAD v4
6g.33164356C>GCA363616134COL11A2n.787G>C
c.4981G>C (p.Asp1661His)
c.4660G>C (p.Asp1554His)
c.4723G>C (p.Asp1575His)
n.771G>C
c.4135G>C (p.Asp1379His)
c.4267G>C (p.Asp1423His)
c.4087G>C (p.Asp1363His)
c.4024G>C (p.Asp1342His)
c.3868G>C (p.Asp1290His)
c.3799G>C (p.Asp1267His)
6g.33164356C>TCA363616136COL11A2n.787G>A
c.4981G>A (p.Asp1661Asn)
c.4660G>A (p.Asp1554Asn)
c.4723G>A (p.Asp1575Asn)
n.771G>A
c.4135G>A (p.Asp1379Asn)
c.4267G>A (p.Asp1423Asn)
c.4087G>A (p.Asp1363Asn)
c.4024G>A (p.Asp1342Asn)
c.3868G>A (p.Asp1290Asn)
c.3799G>A (p.Asp1267Asn)
6g.33164357A>CCA449866962COL11A2n.786T>G
c.4980T>G (p.Arg1660=)
c.4659T>G (p.Arg1553=)
c.4722T>G (p.Arg1574=)
n.770T>G
c.4134T>G (p.Arg1378=)
c.4266T>G (p.Arg1422=)
c.4086T>G (p.Arg1362=)
c.4023T>G (p.Arg1341=)
c.3867T>G (p.Arg1289=)
c.3798T>G (p.Arg1266=)
 ClinVar dbSNP
6g.33164357A>GCA449866963COL11A2n.786T>C
c.4980T>C (p.Arg1660=)
c.4659T>C (p.Arg1553=)
c.4722T>C (p.Arg1574=)
n.770T>C
c.4134T>C (p.Arg1378=)
c.4266T>C (p.Arg1422=)
c.4086T>C (p.Arg1362=)
c.4023T>C (p.Arg1341=)
c.3867T>C (p.Arg1289=)
c.3798T>C (p.Arg1266=)
6g.33164357A>TCA449866964COL11A2n.786T>A
c.4980T>A (p.Arg1660=)
c.4659T>A (p.Arg1553=)
c.4722T>A (p.Arg1574=)
n.770T>A
c.4134T>A (p.Arg1378=)
c.4266T>A (p.Arg1422=)
c.4086T>A (p.Arg1362=)
c.4023T>A (p.Arg1341=)
c.3867T>A (p.Arg1289=)
c.3798T>A (p.Arg1266=)
6g.33164357dupCA2678226369COL11A2n.786dup
c.4980dup (p.Asp1661Ter)
c.4659dup (p.Asp1554Ter)
c.4722dup (p.Asp1575Ter)
n.770dup
c.4134dup (p.Asp1379Ter)
c.4266dup (p.Asp1423Ter)
c.4086dup (p.Asp1363Ter)
c.4023dup (p.Asp1342Ter)
c.3867dup (p.Asp1290Ter)
c.3798dup (p.Asp1267Ter)
 gnomAD v4
6g.33164358C>ACA363616138COL11A2n.785G>T
c.4979G>T (p.Arg1660Leu)
c.4658G>T (p.Arg1553Leu)
c.4721G>T (p.Arg1574Leu)
n.769G>T
c.4133G>T (p.Arg1378Leu)
c.4265G>T (p.Arg1422Leu)
c.4085G>T (p.Arg1362Leu)
c.4022G>T (p.Arg1341Leu)
c.3866G>T (p.Arg1289Leu)
c.3797G>T (p.Arg1266Leu)
6g.33164358C=CA1619889685COL11A2n.785G=
c.4979G= (p.Arg1660=)
c.4658G= (p.Arg1553=)
c.4721G= (p.Arg1574=)
n.769G=
c.4133G= (p.Arg1378=)
c.4265G= (p.Arg1422=)
c.4085G= (p.Arg1362=)
c.4022G= (p.Arg1341=)
c.3866G= (p.Arg1289=)
c.3797G= (p.Arg1266=)
6g.33164358C>GCA363616141COL11A2n.785G>C
c.4979G>C (p.Arg1660Pro)
c.4658G>C (p.Arg1553Pro)
c.4721G>C (p.Arg1574Pro)
n.769G>C
c.4133G>C (p.Arg1378Pro)
c.4265G>C (p.Arg1422Pro)
c.4085G>C (p.Arg1362Pro)
c.4022G>C (p.Arg1341Pro)
c.3866G>C (p.Arg1289Pro)
c.3797G>C (p.Arg1266Pro)
6g.33164358C>TCA3749941COL11A2n.785G>A
c.4979G>A (p.Arg1660His)
c.4658G>A (p.Arg1553His)
c.4721G>A (p.Arg1574His)
n.769G>A
c.4133G>A (p.Arg1378His)
c.4265G>A (p.Arg1422His)
c.4085G>A (p.Arg1362His)
c.4022G>A (p.Arg1341His)
c.3866G>A (p.Arg1289His)
c.3797G>A (p.Arg1266His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33164359G>ACA3749942COL11A2n.784C>T
c.4978C>T (p.Arg1660Cys)
c.4657C>T (p.Arg1553Cys)
c.4720C>T (p.Arg1574Cys)
n.768C>T
c.4132C>T (p.Arg1378Cys)
c.4264C>T (p.Arg1422Cys)
c.4084C>T (p.Arg1362Cys)
c.4021C>T (p.Arg1341Cys)
c.3865C>T (p.Arg1289Cys)
c.3796C>T (p.Arg1266Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164359G>CCA363616149COL11A2n.784C>G
c.4978C>G (p.Arg1660Gly)
c.4657C>G (p.Arg1553Gly)
c.4720C>G (p.Arg1574Gly)
n.768C>G
c.4132C>G (p.Arg1378Gly)
c.4264C>G (p.Arg1422Gly)
c.4084C>G (p.Arg1362Gly)
c.4021C>G (p.Arg1341Gly)
c.3865C>G (p.Arg1289Gly)
c.3796C>G (p.Arg1266Gly)
 gnomAD v4
6g.33164359G=CA1619889689COL11A2n.784C=
c.4978C= (p.Arg1660=)
c.4657C= (p.Arg1553=)
c.4720C= (p.Arg1574=)
n.768C=
c.4132C= (p.Arg1378=)
c.4264C= (p.Arg1422=)
c.4084C= (p.Arg1362=)
c.4021C= (p.Arg1341=)
c.3865C= (p.Arg1289=)
c.3796C= (p.Arg1266=)
6g.33164359G>TCA363616146COL11A2n.784C>A
c.4978C>A (p.Arg1660Ser)
c.4657C>A (p.Arg1553Ser)
c.4720C>A (p.Arg1574Ser)
n.768C>A
c.4132C>A (p.Arg1378Ser)
c.4264C>A (p.Arg1422Ser)
c.4084C>A (p.Arg1362Ser)
c.4021C>A (p.Arg1341Ser)
c.3865C>A (p.Arg1289Ser)
c.3796C>A (p.Arg1266Ser)
6g.33164360G>ACA449866965COL11A2n.783C>T
c.4977C>T (p.Ala1659=)
c.4656C>T (p.Ala1552=)
c.4719C>T (p.Ala1573=)
n.767C>T
c.4131C>T (p.Ala1377=)
c.4263C>T (p.Ala1421=)
c.4083C>T (p.Ala1361=)
c.4020C>T (p.Ala1340=)
c.3864C>T (p.Ala1288=)
c.3795C>T (p.Ala1265=)
 COSMIC
6g.33164360G>CCA449866966COL11A2n.783C>G
c.4977C>G (p.Ala1659=)
c.4656C>G (p.Ala1552=)
c.4719C>G (p.Ala1573=)
n.767C>G
c.4131C>G (p.Ala1377=)
c.4263C>G (p.Ala1421=)
c.4083C>G (p.Ala1361=)
c.4020C>G (p.Ala1340=)
c.3864C>G (p.Ala1288=)
c.3795C>G (p.Ala1265=)
6g.33164360G>TCA449866967COL11A2n.783C>A
c.4977C>A (p.Ala1659=)
c.4656C>A (p.Ala1552=)
c.4719C>A (p.Ala1573=)
n.767C>A
c.4131C>A (p.Ala1377=)
c.4263C>A (p.Ala1421=)
c.4083C>A (p.Ala1361=)
c.4020C>A (p.Ala1340=)
c.3864C>A (p.Ala1288=)
c.3795C>A (p.Ala1265=)
 ClinVar
6g.33164361G>ACA363616152COL11A2n.782C>T
c.4976C>T (p.Ala1659Val)
c.4655C>T (p.Ala1552Val)
c.4718C>T (p.Ala1573Val)
n.766C>T
c.4130C>T (p.Ala1377Val)
c.4262C>T (p.Ala1421Val)
c.4082C>T (p.Ala1361Val)
c.4019C>T (p.Ala1340Val)
c.3863C>T (p.Ala1288Val)
c.3794C>T (p.Ala1265Val)
 dbSNP gnomAD v2
6g.33164361G>CCA363616154COL11A2n.782C>G
c.4976C>G (p.Ala1659Gly)
c.4655C>G (p.Ala1552Gly)
c.4718C>G (p.Ala1573Gly)
n.766C>G
c.4130C>G (p.Ala1377Gly)
c.4262C>G (p.Ala1421Gly)
c.4082C>G (p.Ala1361Gly)
c.4019C>G (p.Ala1340Gly)
c.3863C>G (p.Ala1288Gly)
c.3794C>G (p.Ala1265Gly)
6g.33164361G=CA1619889691COL11A2n.782C=
c.4976C= (p.Ala1659=)
c.4655C= (p.Ala1552=)
c.4718C= (p.Ala1573=)
n.766C=
c.4130C= (p.Ala1377=)
c.4262C= (p.Ala1421=)
c.4082C= (p.Ala1361=)
c.4019C= (p.Ala1340=)
c.3863C= (p.Ala1288=)
c.3794C= (p.Ala1265=)
6g.33164361G>TCA363616155COL11A2n.782C>A
c.4976C>A (p.Ala1659Asp)
c.4655C>A (p.Ala1552Asp)
c.4718C>A (p.Ala1573Asp)
n.766C>A
c.4130C>A (p.Ala1377Asp)
c.4262C>A (p.Ala1421Asp)
c.4082C>A (p.Ala1361Asp)
c.4019C>A (p.Ala1340Asp)
c.3863C>A (p.Ala1288Asp)
c.3794C>A (p.Ala1265Asp)
6g.33164362C>ACA363616159COL11A2n.781G>T
c.4975G>T (p.Ala1659Ser)
c.4654G>T (p.Ala1552Ser)
c.4717G>T (p.Ala1573Ser)
n.765G>T
c.4129G>T (p.Ala1377Ser)
c.4261G>T (p.Ala1421Ser)
c.4081G>T (p.Ala1361Ser)
c.4018G>T (p.Ala1340Ser)
c.3862G>T (p.Ala1288Ser)
c.3793G>T (p.Ala1265Ser)
6g.33164362C>GCA363616161COL11A2n.781G>C
c.4975G>C (p.Ala1659Pro)
c.4654G>C (p.Ala1552Pro)
c.4717G>C (p.Ala1573Pro)
n.765G>C
c.4129G>C (p.Ala1377Pro)
c.4261G>C (p.Ala1421Pro)
c.4081G>C (p.Ala1361Pro)
c.4018G>C (p.Ala1340Pro)
c.3862G>C (p.Ala1288Pro)
c.3793G>C (p.Ala1265Pro)
6g.33164362C>TCA363616163COL11A2n.781G>A
c.4975G>A (p.Ala1659Thr)
c.4654G>A (p.Ala1552Thr)
c.4717G>A (p.Ala1573Thr)
n.765G>A
c.4129G>A (p.Ala1377Thr)
c.4261G>A (p.Ala1421Thr)
c.4081G>A (p.Ala1361Thr)
c.4018G>A (p.Ala1340Thr)
c.3862G>A (p.Ala1288Thr)
c.3793G>A (p.Ala1265Thr)
6g.33164363T>ACA449866968COL11A2n.780A>T
c.4974A>T (p.Ala1658=)
c.4653A>T (p.Ala1551=)
c.4716A>T (p.Ala1572=)
n.764A>T
c.4128A>T (p.Ala1376=)
c.4260A>T (p.Ala1420=)
c.4080A>T (p.Ala1360=)
c.4017A>T (p.Ala1339=)
c.3861A>T (p.Ala1287=)
c.3792A>T (p.Ala1264=)
6g.33164363T>CCA449866969COL11A2n.780A>G
c.4974A>G (p.Ala1658=)
c.4653A>G (p.Ala1551=)
c.4716A>G (p.Ala1572=)
n.764A>G
c.4128A>G (p.Ala1376=)
c.4260A>G (p.Ala1420=)
c.4080A>G (p.Ala1360=)
c.4017A>G (p.Ala1339=)
c.3861A>G (p.Ala1287=)
c.3792A>G (p.Ala1264=)
 ClinVar dbSNP
6g.33164363T>GCA449866970COL11A2n.780A>C
c.4974A>C (p.Ala1658=)
c.4653A>C (p.Ala1551=)
c.4716A>C (p.Ala1572=)
n.764A>C
c.4128A>C (p.Ala1376=)
c.4260A>C (p.Ala1420=)
c.4080A>C (p.Ala1360=)
c.4017A>C (p.Ala1339=)
c.3861A>C (p.Ala1287=)
c.3792A>C (p.Ala1264=)
 gnomAD v4
6g.33164364G>ACA363616165COL11A2n.779C>T
c.4973C>T (p.Ala1658Val)
c.4652C>T (p.Ala1551Val)
c.4715C>T (p.Ala1572Val)
n.763C>T
c.4127C>T (p.Ala1376Val)
c.4259C>T (p.Ala1420Val)
c.4079C>T (p.Ala1360Val)
c.4016C>T (p.Ala1339Val)
c.3860C>T (p.Ala1287Val)
c.3791C>T (p.Ala1264Val)
6g.33164364G>CCA363616167COL11A2n.779C>G
c.4973C>G (p.Ala1658Gly)
c.4652C>G (p.Ala1551Gly)
c.4715C>G (p.Ala1572Gly)
n.763C>G
c.4127C>G (p.Ala1376Gly)
c.4259C>G (p.Ala1420Gly)
c.4079C>G (p.Ala1360Gly)
c.4016C>G (p.Ala1339Gly)
c.3860C>G (p.Ala1287Gly)
c.3791C>G (p.Ala1264Gly)
 dbSNP gnomAD v4
6g.33164364G=CA1619889695COL11A2n.779C=
c.4973C= (p.Ala1658=)
c.4652C= (p.Ala1551=)
c.4715C= (p.Ala1572=)
n.763C=
c.4127C= (p.Ala1376=)
c.4259C= (p.Ala1420=)
c.4079C= (p.Ala1360=)
c.4016C= (p.Ala1339=)
c.3860C= (p.Ala1287=)
c.3791C= (p.Ala1264=)
6g.33164364G>TCA363616168COL11A2n.779C>A
c.4973C>A (p.Ala1658Glu)
c.4652C>A (p.Ala1551Glu)
c.4715C>A (p.Ala1572Glu)
n.763C>A
c.4127C>A (p.Ala1376Glu)
c.4259C>A (p.Ala1420Glu)
c.4079C>A (p.Ala1360Glu)
c.4016C>A (p.Ala1339Glu)
c.3860C>A (p.Ala1287Glu)
c.3791C>A (p.Ala1264Glu)
6g.33164365C>ACA363616171COL11A2n.778G>T
c.4972G>T (p.Ala1658Ser)
c.4651G>T (p.Ala1551Ser)
c.4714G>T (p.Ala1572Ser)
n.762G>T
c.4126G>T (p.Ala1376Ser)
c.4258G>T (p.Ala1420Ser)
c.4078G>T (p.Ala1360Ser)
c.4015G>T (p.Ala1339Ser)
c.3859G>T (p.Ala1287Ser)
c.3790G>T (p.Ala1264Ser)
6g.33164365C>GCA363616174COL11A2n.778G>C
c.4972G>C (p.Ala1658Pro)
c.4651G>C (p.Ala1551Pro)
c.4714G>C (p.Ala1572Pro)
n.762G>C
c.4126G>C (p.Ala1376Pro)
c.4258G>C (p.Ala1420Pro)
c.4078G>C (p.Ala1360Pro)
c.4015G>C (p.Ala1339Pro)
c.3859G>C (p.Ala1287Pro)
c.3790G>C (p.Ala1264Pro)
6g.33164365C>TCA363616175COL11A2n.778G>A
c.4972G>A (p.Ala1658Thr)
c.4651G>A (p.Ala1551Thr)
c.4714G>A (p.Ala1572Thr)
n.762G>A
c.4126G>A (p.Ala1376Thr)
c.4258G>A (p.Ala1420Thr)
c.4078G>A (p.Ala1360Thr)
c.4015G>A (p.Ala1339Thr)
c.3859G>A (p.Ala1287Thr)
c.3790G>A (p.Ala1264Thr)
6g.33164366T>ACA449866971COL11A2n.777A>T
c.4971A>T (p.Gly1657=)
c.4650A>T (p.Gly1550=)
c.4713A>T (p.Gly1571=)
n.761A>T
c.4125A>T (p.Gly1375=)
c.4257A>T (p.Gly1419=)
c.4077A>T (p.Gly1359=)
c.4014A>T (p.Gly1338=)
c.3858A>T (p.Gly1286=)
c.3789A>T (p.Gly1263=)
6g.33164366T>CCA449866972COL11A2n.777A>G
c.4971A>G (p.Gly1657=)
c.4650A>G (p.Gly1550=)
c.4713A>G (p.Gly1571=)
n.761A>G
c.4125A>G (p.Gly1375=)
c.4257A>G (p.Gly1419=)
c.4077A>G (p.Gly1359=)
c.4014A>G (p.Gly1338=)
c.3858A>G (p.Gly1286=)
c.3789A>G (p.Gly1263=)
 ClinVar
6g.33164366T>GCA449866973COL11A2n.777A>C
c.4971A>C (p.Gly1657=)
c.4650A>C (p.Gly1550=)
c.4713A>C (p.Gly1571=)
n.761A>C
c.4125A>C (p.Gly1375=)
c.4257A>C (p.Gly1419=)
c.4077A>C (p.Gly1359=)
c.4014A>C (p.Gly1338=)
c.3858A>C (p.Gly1286=)
c.3789A>C (p.Gly1263=)
6g.33164367C>ACA363616183COL11A2n.776G>T
c.4970G>T (p.Gly1657Val)
c.4649G>T (p.Gly1550Val)
c.4712G>T (p.Gly1571Val)
n.760G>T
c.4124G>T (p.Gly1375Val)
c.4256G>T (p.Gly1419Val)
c.4076G>T (p.Gly1359Val)
c.4013G>T (p.Gly1338Val)
c.3857G>T (p.Gly1286Val)
c.3788G>T (p.Gly1263Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164367C=CA1619889699COL11A2n.776G=
c.4970G= (p.Gly1657=)
c.4649G= (p.Gly1550=)
c.4712G= (p.Gly1571=)
n.760G=
c.4124G= (p.Gly1375=)
c.4256G= (p.Gly1419=)
c.4076G= (p.Gly1359=)
c.4013G= (p.Gly1338=)
c.3857G= (p.Gly1286=)
c.3788G= (p.Gly1263=)
6g.33164367C>GCA363616178COL11A2n.776G>C
c.4970G>C (p.Gly1657Ala)
c.4649G>C (p.Gly1550Ala)
c.4712G>C (p.Gly1571Ala)
n.760G>C
c.4124G>C (p.Gly1375Ala)
c.4256G>C (p.Gly1419Ala)
c.4076G>C (p.Gly1359Ala)
c.4013G>C (p.Gly1338Ala)
c.3857G>C (p.Gly1286Ala)
c.3788G>C (p.Gly1263Ala)
 gnomAD v4
6g.33164367C>TCA363616180COL11A2n.776G>A
c.4970G>A (p.Gly1657Glu)
c.4649G>A (p.Gly1550Glu)
c.4712G>A (p.Gly1571Glu)
n.760G>A
c.4124G>A (p.Gly1375Glu)
c.4256G>A (p.Gly1419Glu)
c.4076G>A (p.Gly1359Glu)
c.4013G>A (p.Gly1338Glu)
c.3857G>A (p.Gly1286Glu)
c.3788G>A (p.Gly1263Glu)
 gnomAD v4
6g.33164368C>ACA363616184COL11A2n.775G>T
c.4969G>T (p.Gly1657Ter)
c.4648G>T (p.Gly1550Ter)
c.4711G>T (p.Gly1571Ter)
n.759G>T
c.4123G>T (p.Gly1375Ter)
c.4255G>T (p.Gly1419Ter)
c.4075G>T (p.Gly1359Ter)
c.4012G>T (p.Gly1338Ter)
c.3856G>T (p.Gly1286Ter)
c.3787G>T (p.Gly1263Ter)
6g.33164368C>GCA363616187COL11A2n.775G>C
c.4969G>C (p.Gly1657Arg)
c.4648G>C (p.Gly1550Arg)
c.4711G>C (p.Gly1571Arg)
n.759G>C
c.4123G>C (p.Gly1375Arg)
c.4255G>C (p.Gly1419Arg)
c.4075G>C (p.Gly1359Arg)
c.4012G>C (p.Gly1338Arg)
c.3856G>C (p.Gly1286Arg)
c.3787G>C (p.Gly1263Arg)
6g.33164368C>TCA363616188COL11A2n.775G>A
c.4969G>A (p.Gly1657Arg)
c.4648G>A (p.Gly1550Arg)
c.4711G>A (p.Gly1571Arg)
n.759G>A
c.4123G>A (p.Gly1375Arg)
c.4255G>A (p.Gly1419Arg)
c.4075G>A (p.Gly1359Arg)
c.4012G>A (p.Gly1338Arg)
c.3856G>A (p.Gly1286Arg)
c.3787G>A (p.Gly1263Arg)
6g.33164369A>CCA449866976COL11A2n.774T>G
c.4968T>G (p.Ser1656=)
c.4647T>G (p.Ser1549=)
c.4710T>G (p.Ser1570=)
n.758T>G
c.4122T>G (p.Ser1374=)
c.4254T>G (p.Ser1418=)
c.4074T>G (p.Ser1358=)
c.4011T>G (p.Ser1337=)
c.3855T>G (p.Ser1285=)
c.3786T>G (p.Ser1262=)
6g.33164369A>GCA449866977COL11A2n.774T>C
c.4968T>C (p.Ser1656=)
c.4647T>C (p.Ser1549=)
c.4710T>C (p.Ser1570=)
n.758T>C
c.4122T>C (p.Ser1374=)
c.4254T>C (p.Ser1418=)
c.4074T>C (p.Ser1358=)
c.4011T>C (p.Ser1337=)
c.3855T>C (p.Ser1285=)
c.3786T>C (p.Ser1262=)
6g.33164369A>TCA449866974COL11A2n.774T>A
c.4968T>A (p.Ser1656=)
c.4647T>A (p.Ser1549=)
c.4710T>A (p.Ser1570=)
n.758T>A
c.4122T>A (p.Ser1374=)
c.4254T>A (p.Ser1418=)
c.4074T>A (p.Ser1358=)
c.4011T>A (p.Ser1337=)
c.3855T>A (p.Ser1285=)
c.3786T>A (p.Ser1262=)
6g.33164370G>ACA363616190COL11A2n.773C>T
c.4967C>T (p.Ser1656Phe)
c.4646C>T (p.Ser1549Phe)
c.4709C>T (p.Ser1570Phe)
n.757C>T
c.4121C>T (p.Ser1374Phe)
c.4253C>T (p.Ser1418Phe)
c.4073C>T (p.Ser1358Phe)
c.4010C>T (p.Ser1337Phe)
c.3854C>T (p.Ser1285Phe)
c.3785C>T (p.Ser1262Phe)
 gnomAD v4
6g.33164370G>CCA363616193COL11A2n.773C>G
c.4967C>G (p.Ser1656Cys)
c.4646C>G (p.Ser1549Cys)
c.4709C>G (p.Ser1570Cys)
n.757C>G
c.4121C>G (p.Ser1374Cys)
c.4253C>G (p.Ser1418Cys)
c.4073C>G (p.Ser1358Cys)
c.4010C>G (p.Ser1337Cys)
c.3854C>G (p.Ser1285Cys)
c.3785C>G (p.Ser1262Cys)
6g.33164370G>TCA363616195COL11A2n.773C>A
c.4967C>A (p.Ser1656Tyr)
c.4646C>A (p.Ser1549Tyr)
c.4709C>A (p.Ser1570Tyr)
n.757C>A
c.4121C>A (p.Ser1374Tyr)
c.4253C>A (p.Ser1418Tyr)
c.4073C>A (p.Ser1358Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3854C>A (p.Ser1285Tyr)
c.3785C>A (p.Ser1262Tyr)
6g.33164371A>CCA363616196COL11A2n.772T>G
c.4966T>G (p.Ser1656Ala)
c.4645T>G (p.Ser1549Ala)
c.4708T>G (p.Ser1570Ala)
n.756T>G
c.4120T>G (p.Ser1374Ala)
c.4252T>G (p.Ser1418Ala)
c.4072T>G (p.Ser1358Ala)
c.4009T>G (p.Ser1337Ala)
c.3853T>G (p.Ser1285Ala)
c.3784T>G (p.Ser1262Ala)
6g.33164371A>GCA363616197COL11A2n.772T>C
c.4966T>C (p.Ser1656Pro)
c.4645T>C (p.Ser1549Pro)
c.4708T>C (p.Ser1570Pro)
n.756T>C
c.4120T>C (p.Ser1374Pro)
c.4252T>C (p.Ser1418Pro)
c.4072T>C (p.Ser1358Pro)
c.4009T>C (p.Ser1337Pro)
c.3853T>C (p.Ser1285Pro)
c.3784T>C (p.Ser1262Pro)
6g.33164371A>TCA363616200COL11A2n.772T>A
c.4966T>A (p.Ser1656Thr)
c.4645T>A (p.Ser1549Thr)
c.4708T>A (p.Ser1570Thr)
n.756T>A
c.4120T>A (p.Ser1374Thr)
c.4252T>A (p.Ser1418Thr)
c.4072T>A (p.Ser1358Thr)
c.4009T>A (p.Ser1337Thr)
c.3853T>A (p.Ser1285Thr)
c.3784T>A (p.Ser1262Thr)
6g.33164372G>ACA449866978COL11A2n.771C>T
c.4965C>T (p.Cys1655=)
c.4644C>T (p.Cys1548=)
c.4707C>T (p.Cys1569=)
n.755C>T
c.4119C>T (p.Cys1373=)
c.4251C>T (p.Cys1417=)
c.4071C>T (p.Cys1357=)
c.4008C>T (p.Cys1336=)
c.3852C>T (p.Cys1284=)
c.3783C>T (p.Cys1261=)
 ClinVar
6g.33164372G>CCA3749943COL11A2n.771C>G
c.4965C>G (p.Cys1655Trp)
c.4644C>G (p.Cys1548Trp)
c.4707C>G (p.Cys1569Trp)
n.755C>G
c.4119C>G (p.Cys1373Trp)
c.4251C>G (p.Cys1417Trp)
c.4071C>G (p.Cys1357Trp)
c.4008C>G (p.Cys1336Trp)
c.3852C>G (p.Cys1284Trp)
c.3783C>G (p.Cys1261Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164372G=CA1619889702COL11A2n.771C=
c.4965C= (p.Cys1655=)
c.4644C= (p.Cys1548=)
c.4707C= (p.Cys1569=)
n.755C=
c.4119C= (p.Cys1373=)
c.4251C= (p.Cys1417=)
c.4071C= (p.Cys1357=)
c.4008C= (p.Cys1336=)
c.3852C= (p.Cys1284=)
c.3783C= (p.Cys1261=)
6g.33164372G>TCA363616204COL11A2n.771C>A
c.4965C>A (p.Cys1655Ter)
c.4644C>A (p.Cys1548Ter)
c.4707C>A (p.Cys1569Ter)
n.755C>A
c.4119C>A (p.Cys1373Ter)
c.4251C>A (p.Cys1417Ter)
c.4071C>A (p.Cys1357Ter)
c.4008C>A (p.Cys1336Ter)
c.3852C>A (p.Cys1284Ter)
c.3783C>A (p.Cys1261Ter)
6g.33164373C>ACA363616209COL11A2n.770G>T
c.4964G>T (p.Cys1655Phe)
c.4643G>T (p.Cys1548Phe)
c.4706G>T (p.Cys1569Phe)
n.754G>T
c.4118G>T (p.Cys1373Phe)
c.4250G>T (p.Cys1417Phe)
c.4070G>T (p.Cys1357Phe)
c.4007G>T (p.Cys1336Phe)
c.3851G>T (p.Cys1284Phe)
c.3782G>T (p.Cys1261Phe)
6g.33164373C>GCA363616214COL11A2n.770G>C
c.4964G>C (p.Cys1655Ser)
c.4643G>C (p.Cys1548Ser)
c.4706G>C (p.Cys1569Ser)
n.754G>C
c.4118G>C (p.Cys1373Ser)
c.4250G>C (p.Cys1417Ser)
c.4070G>C (p.Cys1357Ser)
c.4007G>C (p.Cys1336Ser)
c.3851G>C (p.Cys1284Ser)
c.3782G>C (p.Cys1261Ser)
6g.33164373C>TCA363616207COL11A2n.770G>A
c.4964G>A (p.Cys1655Tyr)
c.4643G>A (p.Cys1548Tyr)
c.4706G>A (p.Cys1569Tyr)
n.754G>A
c.4118G>A (p.Cys1373Tyr)
c.4250G>A (p.Cys1417Tyr)
c.4070G>A (p.Cys1357Tyr)
c.4007G>A (p.Cys1336Tyr)
c.3851G>A (p.Cys1284Tyr)
c.3782G>A (p.Cys1261Tyr)
6g.33164374A=CA1619889707COL11A2n.769T=
c.4963T= (p.Cys1655=)
c.4642T= (p.Cys1548=)
c.4705T= (p.Cys1569=)
n.753T=
c.4117T= (p.Cys1373=)
c.4249T= (p.Cys1417=)
c.4069T= (p.Cys1357=)
c.4006T= (p.Cys1336=)
c.3850T= (p.Cys1284=)
c.3781T= (p.Cys1261=)
6g.33164374A>CCA363616216COL11A2n.769T>G
c.4963T>G (p.Cys1655Gly)
c.4642T>G (p.Cys1548Gly)
c.4705T>G (p.Cys1569Gly)
n.753T>G
c.4117T>G (p.Cys1373Gly)
c.4249T>G (p.Cys1417Gly)
c.4069T>G (p.Cys1357Gly)
c.4006T>G (p.Cys1336Gly)
c.3850T>G (p.Cys1284Gly)
c.3781T>G (p.Cys1261Gly)
 ClinVar
6g.33164374A>GCA363616217COL11A2n.769T>C
c.4963T>C (p.Cys1655Arg)
c.4642T>C (p.Cys1548Arg)
c.4705T>C (p.Cys1569Arg)
n.753T>C
c.4117T>C (p.Cys1373Arg)
c.4249T>C (p.Cys1417Arg)
c.4069T>C (p.Cys1357Arg)
c.4006T>C (p.Cys1336Arg)
c.3850T>C (p.Cys1284Arg)
c.3781T>C (p.Cys1261Arg)
 dbSNP
6g.33164374A>TCA363616220COL11A2n.769T>A
c.4963T>A (p.Cys1655Ser)
c.4642T>A (p.Cys1548Ser)
c.4705T>A (p.Cys1569Ser)
n.753T>A
c.4117T>A (p.Cys1373Ser)
c.4249T>A (p.Cys1417Ser)
c.4069T>A (p.Cys1357Ser)
c.4006T>A (p.Cys1336Ser)
c.3850T>A (p.Cys1284Ser)
c.3781T>A (p.Cys1261Ser)
6g.33164375G>ACA449866979COL11A2n.768C>T
c.4962C>T (p.Pro1654=)
c.4641C>T (p.Pro1547=)
c.4704C>T (p.Pro1568=)
n.752C>T
c.4116C>T (p.Pro1372=)
c.4248C>T (p.Pro1416=)
c.4068C>T (p.Pro1356=)
c.4005C>T (p.Pro1335=)
c.3849C>T (p.Pro1283=)
c.3780C>T (p.Pro1260=)
 gnomAD v4
6g.33164375G>CCA449866980COL11A2n.768C>G
c.4962C>G (p.Pro1654=)
c.4641C>G (p.Pro1547=)
c.4704C>G (p.Pro1568=)
n.752C>G
c.4116C>G (p.Pro1372=)
c.4248C>G (p.Pro1416=)
c.4068C>G (p.Pro1356=)
c.4005C>G (p.Pro1335=)
c.3849C>G (p.Pro1283=)
c.3780C>G (p.Pro1260=)
6g.33164375G>TCA449866981COL11A2n.768C>A
c.4962C>A (p.Pro1654=)
c.4641C>A (p.Pro1547=)
c.4704C>A (p.Pro1568=)
n.752C>A
c.4116C>A (p.Pro1372=)
c.4248C>A (p.Pro1416=)
c.4068C>A (p.Pro1356=)
c.4005C>A (p.Pro1335=)
c.3849C>A (p.Pro1283=)
c.3780C>A (p.Pro1260=)
6g.33164376G>ACA363616221COL11A2n.767C>T
c.4961C>T (p.Pro1654Leu)
c.4640C>T (p.Pro1547Leu)
c.4703C>T (p.Pro1568Leu)
n.751C>T
c.4115C>T (p.Pro1372Leu)
c.4247C>T (p.Pro1416Leu)
c.4067C>T (p.Pro1356Leu)
c.4004C>T (p.Pro1335Leu)
c.3848C>T (p.Pro1283Leu)
c.3779C>T (p.Pro1260Leu)
 gnomAD v4 COSMIC
6g.33164376G>CCA363616223COL11A2n.767C>G
c.4961C>G (p.Pro1654Arg)
c.4640C>G (p.Pro1547Arg)
c.4703C>G (p.Pro1568Arg)
n.751C>G
c.4115C>G (p.Pro1372Arg)
c.4247C>G (p.Pro1416Arg)
c.4067C>G (p.Pro1356Arg)
c.4004C>G (p.Pro1335Arg)
c.3848C>G (p.Pro1283Arg)
c.3779C>G (p.Pro1260Arg)
6g.33164376G>TCA363616226COL11A2n.767C>A
c.4961C>A (p.Pro1654His)
c.4640C>A (p.Pro1547His)
c.4703C>A (p.Pro1568His)
n.751C>A
c.4115C>A (p.Pro1372His)
c.4247C>A (p.Pro1416His)
c.4067C>A (p.Pro1356His)
c.4004C>A (p.Pro1335His)
c.3848C>A (p.Pro1283His)
c.3779C>A (p.Pro1260His)
6g.33164377G>ACA363616231COL11A2n.766C>T
c.4960C>T (p.Pro1654Ser)
c.4639C>T (p.Pro1547Ser)
c.4702C>T (p.Pro1568Ser)
n.750C>T
c.4114C>T (p.Pro1372Ser)
c.4246C>T (p.Pro1416Ser)
c.4066C>T (p.Pro1356Ser)
c.4003C>T (p.Pro1335Ser)
c.3847C>T (p.Pro1283Ser)
c.3778C>T (p.Pro1260Ser)
 gnomAD v4
6g.33164377G>CCA363616228COL11A2n.766C>G
c.4960C>G (p.Pro1654Ala)
c.4639C>G (p.Pro1547Ala)
c.4702C>G (p.Pro1568Ala)
n.750C>G
c.4114C>G (p.Pro1372Ala)
c.4246C>G (p.Pro1416Ala)
c.4066C>G (p.Pro1356Ala)
c.4003C>G (p.Pro1335Ala)
c.3847C>G (p.Pro1283Ala)
c.3778C>G (p.Pro1260Ala)
6g.33164377G>TCA363616230COL11A2n.766C>A
c.4960C>A (p.Pro1654Thr)
c.4639C>A (p.Pro1547Thr)
c.4702C>A (p.Pro1568Thr)
n.750C>A
c.4114C>A (p.Pro1372Thr)
c.4246C>A (p.Pro1416Thr)
c.4066C>A (p.Pro1356Thr)
c.4003C>A (p.Pro1335Thr)
c.3847C>A (p.Pro1283Thr)
c.3778C>A (p.Pro1260Thr)
6g.33164378G>ACA246955COL11A2n.765C>T
c.4959C>T (p.Tyr1653=)
c.4638C>T (p.Tyr1546=)
c.4701C>T (p.Tyr1567=)
n.749C>T
c.4113C>T (p.Tyr1371=)
c.4245C>T (p.Tyr1415=)
c.4065C>T (p.Tyr1355=)
c.4002C>T (p.Tyr1334=)
c.3846C>T (p.Tyr1282=)
c.3777C>T (p.Tyr1259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164378G>CCA3749944COL11A2n.765C>G
c.4959C>G (p.Tyr1653Ter)
c.4638C>G (p.Tyr1546Ter)
c.4701C>G (p.Tyr1567Ter)
n.749C>G
c.4113C>G (p.Tyr1371Ter)
c.4245C>G (p.Tyr1415Ter)
c.4065C>G (p.Tyr1355Ter)
c.4002C>G (p.Tyr1334Ter)
c.3846C>G (p.Tyr1282Ter)
c.3777C>G (p.Tyr1259Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164378G=CA1619889713COL11A2n.765C=
c.4959C= (p.Tyr1653=)
c.4638C= (p.Tyr1546=)
c.4701C= (p.Tyr1567=)
n.749C=
c.4113C= (p.Tyr1371=)
c.4245C= (p.Tyr1415=)
c.4065C= (p.Tyr1355=)
c.4002C= (p.Tyr1334=)
c.3846C= (p.Tyr1282=)
c.3777C= (p.Tyr1259=)
6g.33164378G>TCA363616237COL11A2n.765C>A
c.4959C>A (p.Tyr1653Ter)
c.4638C>A (p.Tyr1546Ter)
c.4701C>A (p.Tyr1567Ter)
n.749C>A
c.4113C>A (p.Tyr1371Ter)
c.4245C>A (p.Tyr1415Ter)
c.4065C>A (p.Tyr1355Ter)
c.4002C>A (p.Tyr1334Ter)
c.3846C>A (p.Tyr1282Ter)
c.3777C>A (p.Tyr1259Ter)
6g.33164379T>ACA363616238COL11A2n.764A>T
c.4958A>T (p.Tyr1653Phe)
c.4637A>T (p.Tyr1546Phe)
c.4700A>T (p.Tyr1567Phe)
n.748A>T
c.4112A>T (p.Tyr1371Phe)
c.4244A>T (p.Tyr1415Phe)
c.4064A>T (p.Tyr1355Phe)
c.4001A>T (p.Tyr1334Phe)
c.3845A>T (p.Tyr1282Phe)
c.3776A>T (p.Tyr1259Phe)
6g.33164379T>CCA363616240COL11A2n.764A>G
c.4958A>G (p.Tyr1653Cys)
c.4637A>G (p.Tyr1546Cys)
c.4700A>G (p.Tyr1567Cys)
n.748A>G
c.4112A>G (p.Tyr1371Cys)
c.4244A>G (p.Tyr1415Cys)
c.4064A>G (p.Tyr1355Cys)
c.4001A>G (p.Tyr1334Cys)
c.3845A>G (p.Tyr1282Cys)
c.3776A>G (p.Tyr1259Cys)
6g.33164379T>GCA363616242COL11A2n.764A>C
c.4958A>C (p.Tyr1653Ser)
c.4637A>C (p.Tyr1546Ser)
c.4700A>C (p.Tyr1567Ser)
n.748A>C
c.4112A>C (p.Tyr1371Ser)
c.4244A>C (p.Tyr1415Ser)
c.4064A>C (p.Tyr1355Ser)
c.4001A>C (p.Tyr1334Ser)
c.3845A>C (p.Tyr1282Ser)
c.3776A>C (p.Tyr1259Ser)
6g.33164380A>CCA363616245COL11A2n.763T>G
c.4957T>G (p.Tyr1653Asp)
c.4636T>G (p.Tyr1546Asp)
c.4699T>G (p.Tyr1567Asp)
n.747T>G
c.4111T>G (p.Tyr1371Asp)
c.4243T>G (p.Tyr1415Asp)
c.4063T>G (p.Tyr1355Asp)
c.4000T>G (p.Tyr1334Asp)
c.3844T>G (p.Tyr1282Asp)
c.3775T>G (p.Tyr1259Asp)
6g.33164380A>GCA363616249COL11A2n.763T>C
c.4957T>C (p.Tyr1653His)
c.4636T>C (p.Tyr1546His)
c.4699T>C (p.Tyr1567His)
n.747T>C
c.4111T>C (p.Tyr1371His)
c.4243T>C (p.Tyr1415His)
c.4063T>C (p.Tyr1355His)
c.4000T>C (p.Tyr1334His)
c.3844T>C (p.Tyr1282His)
c.3775T>C (p.Tyr1259His)
6g.33164380A>TCA363616247COL11A2n.763T>A
c.4957T>A (p.Tyr1653Asn)
c.4636T>A (p.Tyr1546Asn)
c.4699T>A (p.Tyr1567Asn)
n.747T>A
c.4111T>A (p.Tyr1371Asn)
c.4243T>A (p.Tyr1415Asn)
c.4063T>A (p.Tyr1355Asn)
c.4000T>A (p.Tyr1334Asn)
c.3844T>A (p.Tyr1282Asn)
c.3775T>A (p.Tyr1259Asn)
6g.33164381G>ACA449866989COL11A2n.762C>T
c.4956C>T (p.Ser1652=)
c.4635C>T (p.Ser1545=)
c.4698C>T (p.Ser1566=)
n.746C>T
c.4110C>T (p.Ser1370=)
c.4242C>T (p.Ser1414=)
c.4062C>T (p.Ser1354=)
c.3999C>T (p.Ser1333=)
c.3843C>T (p.Ser1281=)
c.3774C>T (p.Ser1258=)
6g.33164381G>CCA449866990COL11A2n.762C>G
c.4956C>G (p.Ser1652=)
c.4635C>G (p.Ser1545=)
c.4698C>G (p.Ser1566=)
n.746C>G
c.4110C>G (p.Ser1370=)
c.4242C>G (p.Ser1414=)
c.4062C>G (p.Ser1354=)
c.3999C>G (p.Ser1333=)
c.3843C>G (p.Ser1281=)
c.3774C>G (p.Ser1258=)
6g.33164381G>TCA449866991COL11A2n.762C>A
c.4956C>A (p.Ser1652=)
c.4635C>A (p.Ser1545=)
c.4698C>A (p.Ser1566=)
n.746C>A
c.4110C>A (p.Ser1370=)
c.4242C>A (p.Ser1414=)
c.4062C>A (p.Ser1354=)
c.3999C>A (p.Ser1333=)
c.3843C>A (p.Ser1281=)
c.3774C>A (p.Ser1258=)
6g.33164381_33164388delCA2678226370COL11A2n.755_762del
c.4949_4956del (p.Asp1650ValfsTer9)
c.4628_4635del (p.Asp1543ValfsTer9)
c.4691_4698del (p.Asp1564ValfsTer9)
n.739_746del
c.4103_4110del (p.Asp1368ValfsTer9)
c.4235_4242del (p.Asp1412ValfsTer9)
c.4055_4062del (p.Asp1352ValfsTer9)
c.3992_3999del (p.Asp1331ValfsTer9)
c.3836_3843del (p.Asp1279ValfsTer9)
c.3767_3774del (p.Asp1256ValfsTer9)
 gnomAD v4
6g.33164382G>ACA137061419COL11A2n.761C>T
c.4955C>T (p.Ser1652Phe)
c.4634C>T (p.Ser1545Phe)
c.4697C>T (p.Ser1566Phe)
n.745C>T
c.4109C>T (p.Ser1370Phe)
c.4241C>T (p.Ser1414Phe)
c.4061C>T (p.Ser1354Phe)
c.3998C>T (p.Ser1333Phe)
c.3842C>T (p.Ser1281Phe)
c.3773C>T (p.Ser1258Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33164382G>CCA363616255COL11A2n.761C>G
c.4955C>G (p.Ser1652Cys)
c.4634C>G (p.Ser1545Cys)
c.4697C>G (p.Ser1566Cys)
n.745C>G
c.4109C>G (p.Ser1370Cys)
c.4241C>G (p.Ser1414Cys)
c.4061C>G (p.Ser1354Cys)
c.3998C>G (p.Ser1333Cys)
c.3842C>G (p.Ser1281Cys)
c.3773C>G (p.Ser1258Cys)
6g.33164382G=CA1619889721COL11A2n.761C=
c.4955C= (p.Ser1652=)
c.4634C= (p.Ser1545=)
c.4697C= (p.Ser1566=)
n.745C=
c.4109C= (p.Ser1370=)
c.4241C= (p.Ser1414=)
c.4061C= (p.Ser1354=)
c.3998C= (p.Ser1333=)
c.3842C= (p.Ser1281=)
c.3773C= (p.Ser1258=)
6g.33164382G>TCA363616256COL11A2n.761C>A
c.4955C>A (p.Ser1652Tyr)
c.4634C>A (p.Ser1545Tyr)
c.4697C>A (p.Ser1566Tyr)
n.745C>A
c.4109C>A (p.Ser1370Tyr)
c.4241C>A (p.Ser1414Tyr)
c.4061C>A (p.Ser1354Tyr)
c.3998C>A (p.Ser1333Tyr)
c.3842C>A (p.Ser1281Tyr)
c.3773C>A (p.Ser1258Tyr)
6g.33164383A>CCA363616259COL11A2n.760T>G
c.4954T>G (p.Ser1652Ala)
c.4633T>G (p.Ser1545Ala)
c.4696T>G (p.Ser1566Ala)
n.744T>G
c.4108T>G (p.Ser1370Ala)
c.4240T>G (p.Ser1414Ala)
c.4060T>G (p.Ser1354Ala)
c.3997T>G (p.Ser1333Ala)
c.3841T>G (p.Ser1281Ala)
c.3772T>G (p.Ser1258Ala)
6g.33164383A>GCA363616262COL11A2n.760T>C
c.4954T>C (p.Ser1652Pro)
c.4633T>C (p.Ser1545Pro)
c.4696T>C (p.Ser1566Pro)
n.744T>C
c.4108T>C (p.Ser1370Pro)
c.4240T>C (p.Ser1414Pro)
c.4060T>C (p.Ser1354Pro)
c.3997T>C (p.Ser1333Pro)
c.3841T>C (p.Ser1281Pro)
c.3772T>C (p.Ser1258Pro)
6g.33164383A>TCA363616265COL11A2n.760T>A
c.4954T>A (p.Ser1652Thr)
c.4633T>A (p.Ser1545Thr)
c.4696T>A (p.Ser1566Thr)
n.744T>A
c.4108T>A (p.Ser1370Thr)
c.4240T>A (p.Ser1414Thr)
c.4060T>A (p.Ser1354Thr)
c.3997T>A (p.Ser1333Thr)
c.3841T>A (p.Ser1281Thr)
c.3772T>A (p.Ser1258Thr)
 gnomAD v4
6g.33164383_33164386delCA2678226371COL11A2n.757_760del
c.4951_4954del (p.Val1651ProfsTer13)
c.4630_4633del (p.Val1544ProfsTer13)
c.4693_4696del (p.Val1565ProfsTer13)
n.741_744del
c.4105_4108del (p.Val1369ProfsTer13)
c.4237_4240del (p.Val1413ProfsTer13)
c.4057_4060del (p.Val1353ProfsTer13)
c.3994_3997del (p.Val1332ProfsTer13)
c.3838_3841del (p.Val1280ProfsTer13)
c.3769_3772del (p.Val1257ProfsTer13)
 gnomAD v4
6g.33164384G>ACA449866995COL11A2n.759C>T
c.4953C>T (p.Val1651=)
c.4632C>T (p.Val1544=)
c.4695C>T (p.Val1565=)
n.743C>T
c.4107C>T (p.Val1369=)
c.4239C>T (p.Val1413=)
c.4059C>T (p.Val1353=)
c.3996C>T (p.Val1332=)
c.3840C>T (p.Val1280=)
c.3771C>T (p.Val1257=)
6g.33164384G>CCA449866996COL11A2n.759C>G
c.4953C>G (p.Val1651=)
c.4632C>G (p.Val1544=)
c.4695C>G (p.Val1565=)
n.743C>G
c.4107C>G (p.Val1369=)
c.4239C>G (p.Val1413=)
c.4059C>G (p.Val1353=)
c.3996C>G (p.Val1332=)
c.3840C>G (p.Val1280=)
c.3771C>G (p.Val1257=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164384G=CA1619889725COL11A2n.759C=
c.4953C= (p.Val1651=)
c.4632C= (p.Val1544=)
c.4695C= (p.Val1565=)
n.743C=
c.4107C= (p.Val1369=)
c.4239C= (p.Val1413=)
c.4059C= (p.Val1353=)
c.3996C= (p.Val1332=)
c.3840C= (p.Val1280=)
c.3771C= (p.Val1257=)
6g.33164384G>TCA449866997COL11A2n.759C>A
c.4953C>A (p.Val1651=)
c.4632C>A (p.Val1544=)
c.4695C>A (p.Val1565=)
n.743C>A
c.4107C>A (p.Val1369=)
c.4239C>A (p.Val1413=)
c.4059C>A (p.Val1353=)
c.3996C>A (p.Val1332=)
c.3840C>A (p.Val1280=)
c.3771C>A (p.Val1257=)
6g.33164385A=CA1619889733COL11A2n.758T=
c.4952T= (p.Val1651=)
c.4631T= (p.Val1544=)
c.4694T= (p.Val1565=)
n.742T=
c.4106T= (p.Val1369=)
c.4238T= (p.Val1413=)
c.4058T= (p.Val1353=)
c.3995T= (p.Val1332=)
c.3839T= (p.Val1280=)
c.3770T= (p.Val1257=)
6g.33164385A>CCA363616274COL11A2n.758T>G
c.4952T>G (p.Val1651Gly)
c.4631T>G (p.Val1544Gly)
c.4694T>G (p.Val1565Gly)
n.742T>G
c.4106T>G (p.Val1369Gly)
c.4238T>G (p.Val1413Gly)
c.4058T>G (p.Val1353Gly)
c.3995T>G (p.Val1332Gly)
c.3839T>G (p.Val1280Gly)
c.3770T>G (p.Val1257Gly)
6g.33164385A>GCA363616275COL11A2n.758T>C
c.4952T>C (p.Val1651Ala)
c.4631T>C (p.Val1544Ala)
c.4694T>C (p.Val1565Ala)
n.742T>C
c.4106T>C (p.Val1369Ala)
c.4238T>C (p.Val1413Ala)
c.4058T>C (p.Val1353Ala)
c.3995T>C (p.Val1332Ala)
c.3839T>C (p.Val1280Ala)
c.3770T>C (p.Val1257Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164385A>TCA363616278COL11A2n.758T>A
c.4952T>A (p.Val1651Asp)
c.4631T>A (p.Val1544Asp)
c.4694T>A (p.Val1565Asp)
n.742T>A
c.4106T>A (p.Val1369Asp)
c.4238T>A (p.Val1413Asp)
c.4058T>A (p.Val1353Asp)
c.3995T>A (p.Val1332Asp)
c.3839T>A (p.Val1280Asp)
c.3770T>A (p.Val1257Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.33164386C>ACA363616281COL11A2n.757G>T
c.4951G>T (p.Val1651Phe)
c.4630G>T (p.Val1544Phe)
c.4693G>T (p.Val1565Phe)
n.741G>T
c.4105G>T (p.Val1369Phe)
c.4237G>T (p.Val1413Phe)
c.4057G>T (p.Val1353Phe)
c.3994G>T (p.Val1332Phe)
c.3838G>T (p.Val1280Phe)
c.3769G>T (p.Val1257Phe)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.33164386C=CA1619889739COL11A2n.757G=
c.4951G= (p.Val1651=)
c.4630G= (p.Val1544=)
c.4693G= (p.Val1565=)
n.741G=
c.4105G= (p.Val1369=)
c.4237G= (p.Val1413=)
c.4057G= (p.Val1353=)
c.3994G= (p.Val1332=)
c.3838G= (p.Val1280=)
c.3769G= (p.Val1257=)
6g.33164386C>GCA363616283COL11A2n.757G>C
c.4951G>C (p.Val1651Leu)
c.4630G>C (p.Val1544Leu)
c.4693G>C (p.Val1565Leu)
n.741G>C
c.4105G>C (p.Val1369Leu)
c.4237G>C (p.Val1413Leu)
c.4057G>C (p.Val1353Leu)
c.3994G>C (p.Val1332Leu)
c.3838G>C (p.Val1280Leu)
c.3769G>C (p.Val1257Leu)
6g.33164386C>TCA3749945COL11A2n.757G>A
c.4951G>A (p.Val1651Ile)
c.4630G>A (p.Val1544Ile)
c.4693G>A (p.Val1565Ile)
n.741G>A
c.4105G>A (p.Val1369Ile)
c.4237G>A (p.Val1413Ile)
c.4057G>A (p.Val1353Ile)
c.3994G>A (p.Val1332Ile)
c.3838G>A (p.Val1280Ile)
c.3769G>A (p.Val1257Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164387G>ACA3749946COL11A2n.756C>T
c.4950C>T (p.Asp1650=)
c.4629C>T (p.Asp1543=)
c.4692C>T (p.Asp1564=)
n.740C>T
c.4104C>T (p.Asp1368=)
c.4236C>T (p.Asp1412=)
c.4056C>T (p.Asp1352=)
c.3993C>T (p.Asp1331=)
c.3837C>T (p.Asp1279=)
c.3768C>T (p.Asp1256=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164387G>CCA363616293COL11A2n.756C>G
c.4950C>G (p.Asp1650Glu)
c.4629C>G (p.Asp1543Glu)
c.4692C>G (p.Asp1564Glu)
n.740C>G
c.4104C>G (p.Asp1368Glu)
c.4236C>G (p.Asp1412Glu)
c.4056C>G (p.Asp1352Glu)
c.3993C>G (p.Asp1331Glu)
c.3837C>G (p.Asp1279Glu)
c.3768C>G (p.Asp1256Glu)
 gnomAD v4
6g.33164387G=CA1619889746COL11A2n.756C=
c.4950C= (p.Asp1650=)
c.4629C= (p.Asp1543=)
c.4692C= (p.Asp1564=)
n.740C=
c.4104C= (p.Asp1368=)
c.4236C= (p.Asp1412=)
c.4056C= (p.Asp1352=)
c.3993C= (p.Asp1331=)
c.3837C= (p.Asp1279=)
c.3768C= (p.Asp1256=)
6g.33164387G>TCA363616291COL11A2n.756C>A
c.4950C>A (p.Asp1650Glu)
c.4629C>A (p.Asp1543Glu)
c.4692C>A (p.Asp1564Glu)
n.740C>A
c.4104C>A (p.Asp1368Glu)
c.4236C>A (p.Asp1412Glu)
c.4056C>A (p.Asp1352Glu)
c.3993C>A (p.Asp1331Glu)
c.3837C>A (p.Asp1279Glu)
c.3768C>A (p.Asp1256Glu)
6g.33164388T>ACA363616296COL11A2n.755A>T
c.4949A>T (p.Asp1650Val)
c.4628A>T (p.Asp1543Val)
c.4691A>T (p.Asp1564Val)
n.739A>T
c.4103A>T (p.Asp1368Val)
c.4235A>T (p.Asp1412Val)
c.4055A>T (p.Asp1352Val)
c.3992A>T (p.Asp1331Val)
c.3836A>T (p.Asp1279Val)
c.3767A>T (p.Asp1256Val)
6g.33164388T>CCA363616298COL11A2n.755A>G
c.4949A>G (p.Asp1650Gly)
c.4628A>G (p.Asp1543Gly)
c.4691A>G (p.Asp1564Gly)
n.739A>G
c.4103A>G (p.Asp1368Gly)
c.4235A>G (p.Asp1412Gly)
c.4055A>G (p.Asp1352Gly)
c.3992A>G (p.Asp1331Gly)
c.3836A>G (p.Asp1279Gly)
c.3767A>G (p.Asp1256Gly)
 gnomAD v4
6g.33164388T>GCA363616302COL11A2n.755A>C
c.4949A>C (p.Asp1650Ala)
c.4628A>C (p.Asp1543Ala)
c.4691A>C (p.Asp1564Ala)
n.739A>C
c.4103A>C (p.Asp1368Ala)
c.4235A>C (p.Asp1412Ala)
c.4055A>C (p.Asp1352Ala)
c.3992A>C (p.Asp1331Ala)
c.3836A>C (p.Asp1279Ala)
c.3767A>C (p.Asp1256Ala)
6g.33164389C>ACA363616304COL11A2n.754G>T
c.4948G>T (p.Asp1650Tyr)
c.4627G>T (p.Asp1543Tyr)
c.4690G>T (p.Asp1564Tyr)
n.738G>T
c.4102G>T (p.Asp1368Tyr)
c.4234G>T (p.Asp1412Tyr)
c.4054G>T (p.Asp1352Tyr)
c.3991G>T (p.Asp1331Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3766G>T (p.Asp1256Tyr)
6g.33164389C>GCA363616305COL11A2n.754G>C
c.4948G>C (p.Asp1650His)
c.4627G>C (p.Asp1543His)
c.4690G>C (p.Asp1564His)
n.738G>C
c.4102G>C (p.Asp1368His)
c.4234G>C (p.Asp1412His)
c.4054G>C (p.Asp1352His)
c.3991G>C (p.Asp1331His)
c.3835G>C (p.Asp1279His)
c.3766G>C (p.Asp1256His)
6g.33164389C>TCA363616308COL11A2n.754G>A
c.4948G>A (p.Asp1650Asn)
c.4627G>A (p.Asp1543Asn)
c.4690G>A (p.Asp1564Asn)
n.738G>A
c.4102G>A (p.Asp1368Asn)
c.4234G>A (p.Asp1412Asn)
c.4054G>A (p.Asp1352Asn)
c.3991G>A (p.Asp1331Asn)
c.3835G>A (p.Asp1279Asn)
c.3766G>A (p.Asp1256Asn)
 gnomAD v4
6g.33164390C>ACA363616311COL11A2n.753G>T
c.4947G>T (p.Gln1649His)
c.4626G>T (p.Gln1542His)
c.4689G>T (p.Gln1563His)
n.737G>T
c.4101G>T (p.Gln1367His)
c.4233G>T (p.Gln1411His)
c.4053G>T (p.Gln1351His)
c.3990G>T (p.Gln1330His)
c.3834G>T (p.Gln1278His)
c.3765G>T (p.Gln1255His)
 gnomAD v4
6g.33164390C>GCA363616310COL11A2n.753G>C
c.4947G>C (p.Gln1649His)
c.4626G>C (p.Gln1542His)
c.4689G>C (p.Gln1563His)
n.737G>C
c.4101G>C (p.Gln1367His)
c.4233G>C (p.Gln1411His)
c.4053G>C (p.Gln1351His)
c.3990G>C (p.Gln1330His)
c.3834G>C (p.Gln1278His)
c.3765G>C (p.Gln1255His)
6g.33164390C>TCA449867005COL11A2n.753G>A
c.4947G>A (p.Gln1649=)
c.4626G>A (p.Gln1542=)
c.4689G>A (p.Gln1563=)
n.737G>A
c.4101G>A (p.Gln1367=)
c.4233G>A (p.Gln1411=)
c.4053G>A (p.Gln1351=)
c.3990G>A (p.Gln1330=)
c.3834G>A (p.Gln1278=)
c.3765G>A (p.Gln1255=)
6g.33164391T>ACA363616312COL11A2n.752A>T
c.4946A>T (p.Gln1649Leu)
c.4625A>T (p.Gln1542Leu)
c.4688A>T (p.Gln1563Leu)
n.736A>T
c.4100A>T (p.Gln1367Leu)
c.4232A>T (p.Gln1411Leu)
c.4052A>T (p.Gln1351Leu)
c.3989A>T (p.Gln1330Leu)
c.3833A>T (p.Gln1278Leu)
c.3764A>T (p.Gln1255Leu)
6g.33164391T>CCA363616313COL11A2n.752A>G
c.4946A>G (p.Gln1649Arg)
c.4625A>G (p.Gln1542Arg)
c.4688A>G (p.Gln1563Arg)
n.736A>G
c.4100A>G (p.Gln1367Arg)
c.4232A>G (p.Gln1411Arg)
c.4052A>G (p.Gln1351Arg)
c.3989A>G (p.Gln1330Arg)
c.3833A>G (p.Gln1278Arg)
c.3764A>G (p.Gln1255Arg)
6g.33164391T>GCA363616315COL11A2n.752A>C
c.4946A>C (p.Gln1649Pro)
c.4625A>C (p.Gln1542Pro)
c.4688A>C (p.Gln1563Pro)
n.736A>C
c.4100A>C (p.Gln1367Pro)
c.4232A>C (p.Gln1411Pro)
c.4052A>C (p.Gln1351Pro)
c.3989A>C (p.Gln1330Pro)
c.3833A>C (p.Gln1278Pro)
c.3764A>C (p.Gln1255Pro)
6g.33164392G>ACA363616317COL11A2n.751C>T
c.4945C>T (p.Gln1649Ter)
c.4624C>T (p.Gln1542Ter)
c.4687C>T (p.Gln1563Ter)
n.735C>T
c.4099C>T (p.Gln1367Ter)
c.4231C>T (p.Gln1411Ter)
c.4051C>T (p.Gln1351Ter)
c.3988C>T (p.Gln1330Ter)
c.3832C>T (p.Gln1278Ter)
c.3763C>T (p.Gln1255Ter)
 gnomAD v4
6g.33164392G>CCA363616319COL11A2n.751C>G
c.4945C>G (p.Gln1649Glu)
c.4624C>G (p.Gln1542Glu)
c.4687C>G (p.Gln1563Glu)
n.735C>G
c.4099C>G (p.Gln1367Glu)
c.4231C>G (p.Gln1411Glu)
c.4051C>G (p.Gln1351Glu)
c.3988C>G (p.Gln1330Glu)
c.3832C>G (p.Gln1278Glu)
c.3763C>G (p.Gln1255Glu)
6g.33164392G>TCA363616320COL11A2n.751C>A
c.4945C>A (p.Gln1649Lys)
c.4624C>A (p.Gln1542Lys)
c.4687C>A (p.Gln1563Lys)
n.735C>A
c.4099C>A (p.Gln1367Lys)
c.4231C>A (p.Gln1411Lys)
c.4051C>A (p.Gln1351Lys)
c.3988C>A (p.Gln1330Lys)
c.3832C>A (p.Gln1278Lys)
c.3763C>A (p.Gln1255Lys)
6g.33164393G>ACA3749947COL11A2n.750C>T
c.4944C>T (p.His1648=)
c.4623C>T (p.His1541=)
c.4686C>T (p.His1562=)
n.734C>T
c.4098C>T (p.His1366=)
c.4230C>T (p.His1410=)
c.4050C>T (p.His1350=)
c.3987C>T (p.His1329=)
c.3831C>T (p.His1277=)
c.3762C>T (p.His1254=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33164393G>CCA363616327COL11A2n.750C>G
c.4944C>G (p.His1648Gln)
c.4623C>G (p.His1541Gln)
c.4686C>G (p.His1562Gln)
n.734C>G
c.4098C>G (p.His1366Gln)
c.4230C>G (p.His1410Gln)
c.4050C>G (p.His1350Gln)
c.3987C>G (p.His1329Gln)
c.3831C>G (p.His1277Gln)
c.3762C>G (p.His1254Gln)
6g.33164393G=CA1619889755COL11A2n.750C=
c.4944C= (p.His1648=)
c.4623C= (p.His1541=)
c.4686C= (p.His1562=)
n.734C=
c.4098C= (p.His1366=)
c.4230C= (p.His1410=)
c.4050C= (p.His1350=)
c.3987C= (p.His1329=)
c.3831C= (p.His1277=)
c.3762C= (p.His1254=)
6g.33164393G>TCA363616326COL11A2n.750C>A
c.4944C>A (p.His1648Gln)
c.4623C>A (p.His1541Gln)
c.4686C>A (p.His1562Gln)
n.734C>A
c.4098C>A (p.His1366Gln)
c.4230C>A (p.His1410Gln)
c.4050C>A (p.His1350Gln)
c.3987C>A (p.His1329Gln)
c.3831C>A (p.His1277Gln)
c.3762C>A (p.His1254Gln)
6g.33164394T>ACA363616329COL11A2n.749A>T
c.4943A>T (p.His1648Leu)
c.4622A>T (p.His1541Leu)
c.4685A>T (p.His1562Leu)
n.733A>T
c.4097A>T (p.His1366Leu)
c.4229A>T (p.His1410Leu)
c.4049A>T (p.His1350Leu)
c.3986A>T (p.His1329Leu)
c.3830A>T (p.His1277Leu)
c.3761A>T (p.His1254Leu)
 ClinVar dbSNP
6g.33164394T>CCA363616331COL11A2n.749A>G
c.4943A>G (p.His1648Arg)
c.4622A>G (p.His1541Arg)
c.4685A>G (p.His1562Arg)
n.733A>G
c.4097A>G (p.His1366Arg)
c.4229A>G (p.His1410Arg)
c.4049A>G (p.His1350Arg)
c.3986A>G (p.His1329Arg)
c.3830A>G (p.His1277Arg)
c.3761A>G (p.His1254Arg)
6g.33164394T>GCA363616333COL11A2n.749A>C
c.4943A>C (p.His1648Pro)
c.4622A>C (p.His1541Pro)
c.4685A>C (p.His1562Pro)
n.733A>C
c.4097A>C (p.His1366Pro)
c.4229A>C (p.His1410Pro)
c.4049A>C (p.His1350Pro)
c.3986A>C (p.His1329Pro)
c.3830A>C (p.His1277Pro)
c.3761A>C (p.His1254Pro)
 gnomAD v4
6g.33164394T=CA1619889764COL11A2n.749A=
c.4943A= (p.His1648=)
c.4622A= (p.His1541=)
c.4685A= (p.His1562=)
n.733A=
c.4097A= (p.His1366=)
c.4229A= (p.His1410=)
c.4049A= (p.His1350=)
c.3986A= (p.His1329=)
c.3830A= (p.His1277=)
c.3761A= (p.His1254=)
6g.33164395G>ACA363616335COL11A2n.748C>T
c.4942C>T (p.His1648Tyr)
c.4621C>T (p.His1541Tyr)
c.4684C>T (p.His1562Tyr)
n.732C>T
c.4096C>T (p.His1366Tyr)
c.4228C>T (p.His1410Tyr)
c.4048C>T (p.His1350Tyr)
c.3985C>T (p.His1329Tyr)
c.3829C>T (p.His1277Tyr)
c.3760C>T (p.His1254Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.33164395G>CCA363616336COL11A2n.748C>G
c.4942C>G (p.His1648Asp)
c.4621C>G (p.His1541Asp)
c.4684C>G (p.His1562Asp)
n.732C>G
c.4096C>G (p.His1366Asp)
c.4228C>G (p.His1410Asp)
c.4048C>G (p.His1350Asp)
c.3985C>G (p.His1329Asp)
c.3829C>G (p.His1277Asp)
c.3760C>G (p.His1254Asp)
6g.33164395G=CA1619889768COL11A2n.748C=
c.4942C= (p.His1648=)
c.4621C= (p.His1541=)
c.4684C= (p.His1562=)
n.732C=
c.4096C= (p.His1366=)
c.4228C= (p.His1410=)
c.4048C= (p.His1350=)
c.3985C= (p.His1329=)
c.3829C= (p.His1277=)
c.3760C= (p.His1254=)
6g.33164395G>TCA363616338COL11A2n.748C>A
c.4942C>A (p.His1648Asn)
c.4621C>A (p.His1541Asn)
c.4684C>A (p.His1562Asn)
n.732C>A
c.4096C>A (p.His1366Asn)
c.4228C>A (p.His1410Asn)
c.4048C>A (p.His1350Asn)
c.3985C>A (p.His1329Asn)
c.3829C>A (p.His1277Asn)
c.3760C>A (p.His1254Asn)
6g.33164397delCA2678226372COL11A2n.748del
c.4942del (p.His1648ThrfsTer17)
c.4621del (p.His1541ThrfsTer17)
c.4684del (p.His1562ThrfsTer17)
n.732del
c.4096del (p.His1366ThrfsTer17)
c.4228del (p.His1410ThrfsTer17)
c.4048del (p.His1350ThrfsTer17)
c.3985del (p.His1329ThrfsTer17)
c.3829del (p.His1277ThrfsTer17)
c.3760del (p.His1254ThrfsTer17)
 gnomAD v4
6g.33164396G>ACA449867013COL11A2n.747C>T
c.4941C>T (p.Ala1647=)
c.4620C>T (p.Ala1540=)
c.4683C>T (p.Ala1561=)
n.731C>T
c.4095C>T (p.Ala1365=)
c.4227C>T (p.Ala1409=)
c.4047C>T (p.Ala1349=)
c.3984C>T (p.Ala1328=)
c.3828C>T (p.Ala1276=)
c.3759C>T (p.Ala1253=)
6g.33164396G>CCA449867014COL11A2n.747C>G
c.4941C>G (p.Ala1647=)
c.4620C>G (p.Ala1540=)
c.4683C>G (p.Ala1561=)
n.731C>G
c.4095C>G (p.Ala1365=)
c.4227C>G (p.Ala1409=)
c.4047C>G (p.Ala1349=)
c.3984C>G (p.Ala1328=)
c.3828C>G (p.Ala1276=)
c.3759C>G (p.Ala1253=)
6g.33164396G>TCA449867015COL11A2n.747C>A
c.4941C>A (p.Ala1647=)
c.4620C>A (p.Ala1540=)
c.4683C>A (p.Ala1561=)
n.731C>A
c.4095C>A (p.Ala1365=)
c.4227C>A (p.Ala1409=)
c.4047C>A (p.Ala1349=)
c.3984C>A (p.Ala1328=)
c.3828C>A (p.Ala1276=)
c.3759C>A (p.Ala1253=)
6g.33164397G>ACA363616339COL11A2n.746C>T
c.4940C>T (p.Ala1647Val)
c.4619C>T (p.Ala1540Val)
c.4682C>T (p.Ala1561Val)
n.730C>T
c.4094C>T (p.Ala1365Val)
c.4226C>T (p.Ala1409Val)
c.4046C>T (p.Ala1349Val)
c.3983C>T (p.Ala1328Val)
c.3827C>T (p.Ala1276Val)
c.3758C>T (p.Ala1253Val)
 gnomAD v4
6g.33164397G>CCA363616340COL11A2n.746C>G
c.4940C>G (p.Ala1647Gly)
c.4619C>G (p.Ala1540Gly)
c.4682C>G (p.Ala1561Gly)
n.730C>G
c.4094C>G (p.Ala1365Gly)
c.4226C>G (p.Ala1409Gly)
c.4046C>G (p.Ala1349Gly)
c.3983C>G (p.Ala1328Gly)
c.3827C>G (p.Ala1276Gly)
c.3758C>G (p.Ala1253Gly)
6g.33164397G>TCA363616342COL11A2n.746C>A
c.4940C>A (p.Ala1647Asp)
c.4619C>A (p.Ala1540Asp)
c.4682C>A (p.Ala1561Asp)
n.730C>A
c.4094C>A (p.Ala1365Asp)
c.4226C>A (p.Ala1409Asp)
c.4046C>A (p.Ala1349Asp)
c.3983C>A (p.Ala1328Asp)
c.3827C>A (p.Ala1276Asp)
c.3758C>A (p.Ala1253Asp)
6g.33164398C>ACA363616343COL11A2n.745G>T
c.4939G>T (p.Ala1647Ser)
c.4618G>T (p.Ala1540Ser)
c.4681G>T (p.Ala1561Ser)
n.729G>T
c.4093G>T (p.Ala1365Ser)
c.4225G>T (p.Ala1409Ser)
c.4045G>T (p.Ala1349Ser)
c.3982G>T (p.Ala1328Ser)
c.3826G>T (p.Ala1276Ser)
c.3757G>T (p.Ala1253Ser)
6g.33164398C=CA1619889773COL11A2n.745G=
c.4939G= (p.Ala1647=)
c.4618G= (p.Ala1540=)
c.4681G= (p.Ala1561=)
n.729G=
c.4093G= (p.Ala1365=)
c.4225G= (p.Ala1409=)
c.4045G= (p.Ala1349=)
c.3982G= (p.Ala1328=)
c.3826G= (p.Ala1276=)
c.3757G= (p.Ala1253=)
6g.33164398C>GCA363616344COL11A2n.745G>C
c.4939G>C (p.Ala1647Pro)
c.4618G>C (p.Ala1540Pro)
c.4681G>C (p.Ala1561Pro)
n.729G>C
c.4093G>C (p.Ala1365Pro)
c.4225G>C (p.Ala1409Pro)
c.4045G>C (p.Ala1349Pro)
c.3982G>C (p.Ala1328Pro)
c.3826G>C (p.Ala1276Pro)
c.3757G>C (p.Ala1253Pro)
6g.33164398C>TCA3749948COL11A2n.745G>A
c.4939G>A (p.Ala1647Thr)
c.4618G>A (p.Ala1540Thr)
c.4681G>A (p.Ala1561Thr)
n.729G>A
c.4093G>A (p.Ala1365Thr)
c.4225G>A (p.Ala1409Thr)
c.4045G>A (p.Ala1349Thr)
c.3982G>A (p.Ala1328Thr)
c.3826G>A (p.Ala1276Thr)
c.3757G>A (p.Ala1253Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164399T>ACA449867017COL11A2n.744A>T
c.4938A>T (p.Ser1646=)
c.4617A>T (p.Ser1539=)
c.4680A>T (p.Ser1560=)
n.728A>T
c.4092A>T (p.Ser1364=)
c.4224A>T (p.Ser1408=)
c.4044A>T (p.Ser1348=)
c.3981A>T (p.Ser1327=)
c.3825A>T (p.Ser1275=)
c.3756A>T (p.Ser1252=)
6g.33164399T>CCA449867018COL11A2n.744A>G
c.4938A>G (p.Ser1646=)
c.4617A>G (p.Ser1539=)
c.4680A>G (p.Ser1560=)
n.728A>G
c.4092A>G (p.Ser1364=)
c.4224A>G (p.Ser1408=)
c.4044A>G (p.Ser1348=)
c.3981A>G (p.Ser1327=)
c.3825A>G (p.Ser1275=)
c.3756A>G (p.Ser1252=)
6g.33164399T>GCA449867019COL11A2n.744A>C
c.4938A>C (p.Ser1646=)
c.4617A>C (p.Ser1539=)
c.4680A>C (p.Ser1560=)
n.728A>C
c.4092A>C (p.Ser1364=)
c.4224A>C (p.Ser1408=)
c.4044A>C (p.Ser1348=)
c.3981A>C (p.Ser1327=)
c.3825A>C (p.Ser1275=)
c.3756A>C (p.Ser1252=)
6g.33164400G>ACA363616346COL11A2n.743C>T
c.4937C>T (p.Ser1646Leu)
c.4616C>T (p.Ser1539Leu)
c.4679C>T (p.Ser1560Leu)
n.727C>T
c.4091C>T (p.Ser1364Leu)
c.4223C>T (p.Ser1408Leu)
c.4043C>T (p.Ser1348Leu)
c.3980C>T (p.Ser1327Leu)
c.3824C>T (p.Ser1275Leu)
c.3755C>T (p.Ser1252Leu)
6g.33164400G>CCA363616348COL11A2n.743C>G
c.4937C>G (p.Ser1646Ter)
c.4616C>G (p.Ser1539Ter)
c.4679C>G (p.Ser1560Ter)
n.727C>G
c.4091C>G (p.Ser1364Ter)
c.4223C>G (p.Ser1408Ter)
c.4043C>G (p.Ser1348Ter)
c.3980C>G (p.Ser1327Ter)
c.3824C>G (p.Ser1275Ter)
c.3755C>G (p.Ser1252Ter)
6g.33164400G>TCA363616345COL11A2n.743C>A
c.4937C>A (p.Ser1646Ter)
c.4616C>A (p.Ser1539Ter)
c.4679C>A (p.Ser1560Ter)
n.727C>A
c.4091C>A (p.Ser1364Ter)
c.4223C>A (p.Ser1408Ter)
c.4043C>A (p.Ser1348Ter)
c.3980C>A (p.Ser1327Ter)
c.3824C>A (p.Ser1275Ter)
c.3755C>A (p.Ser1252Ter)
6g.33164401A>CCA363616350COL11A2n.742T>G
c.4936T>G (p.Ser1646Ala)
c.4615T>G (p.Ser1539Ala)
c.4678T>G (p.Ser1560Ala)
n.726T>G
c.4090T>G (p.Ser1364Ala)
c.4222T>G (p.Ser1408Ala)
c.4042T>G (p.Ser1348Ala)
c.3979T>G (p.Ser1327Ala)
c.3823T>G (p.Ser1275Ala)
c.3754T>G (p.Ser1252Ala)
6g.33164401A>GCA363616353COL11A2n.742T>C
c.4936T>C (p.Ser1646Pro)
c.4615T>C (p.Ser1539Pro)
c.4678T>C (p.Ser1560Pro)
n.726T>C
c.4090T>C (p.Ser1364Pro)
c.4222T>C (p.Ser1408Pro)
c.4042T>C (p.Ser1348Pro)
c.3979T>C (p.Ser1327Pro)
c.3823T>C (p.Ser1275Pro)
c.3754T>C (p.Ser1252Pro)
6g.33164401A>TCA363616352COL11A2n.742T>A
c.4936T>A (p.Ser1646Thr)
c.4615T>A (p.Ser1539Thr)
c.4678T>A (p.Ser1560Thr)
n.726T>A
c.4090T>A (p.Ser1364Thr)
c.4222T>A (p.Ser1408Thr)
c.4042T>A (p.Ser1348Thr)
c.3979T>A (p.Ser1327Thr)
c.3823T>A (p.Ser1275Thr)
c.3754T>A (p.Ser1252Thr)
6g.33164402G>ACA449867021COL11A2n.741C>T
c.4935C>T (p.Val1645=)
c.4614C>T (p.Val1538=)
c.4677C>T (p.Val1559=)
n.725C>T
c.4089C>T (p.Val1363=)
c.4221C>T (p.Val1407=)
c.4041C>T (p.Val1347=)
c.3978C>T (p.Val1326=)
c.3822C>T (p.Val1274=)
c.3753C>T (p.Val1251=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164402G>CCA449867022COL11A2n.741C>G
c.4935C>G (p.Val1645=)
c.4614C>G (p.Val1538=)
c.4677C>G (p.Val1559=)
n.725C>G
c.4089C>G (p.Val1363=)
c.4221C>G (p.Val1407=)
c.4041C>G (p.Val1347=)
c.3978C>G (p.Val1326=)
c.3822C>G (p.Val1274=)
c.3753C>G (p.Val1251=)
6g.33164402G=CA1619889775COL11A2n.741C=
c.4935C= (p.Val1645=)
c.4614C= (p.Val1538=)
c.4677C= (p.Val1559=)
n.725C=
c.4089C= (p.Val1363=)
c.4221C= (p.Val1407=)
c.4041C= (p.Val1347=)
c.3978C= (p.Val1326=)
c.3822C= (p.Val1274=)
c.3753C= (p.Val1251=)
6g.33164402G>TCA449867020COL11A2n.741C>A
c.4935C>A (p.Val1645=)
c.4614C>A (p.Val1538=)
c.4677C>A (p.Val1559=)
n.725C>A
c.4089C>A (p.Val1363=)
c.4221C>A (p.Val1407=)
c.4041C>A (p.Val1347=)
c.3978C>A (p.Val1326=)
c.3822C>A (p.Val1274=)
c.3753C>A (p.Val1251=)
 gnomAD v4
6g.33164403A=CA1619889779COL11A2n.740T=
c.4934T= (p.Val1645=)
c.4613T= (p.Val1538=)
c.4676T= (p.Val1559=)
n.724T=
c.4088T= (p.Val1363=)
c.4220T= (p.Val1407=)
c.4040T= (p.Val1347=)
c.3977T= (p.Val1326=)
c.3821T= (p.Val1274=)
c.3752T= (p.Val1251=)
6g.33164403A>CCA363616355COL11A2n.740T>G
c.4934T>G (p.Val1645Gly)
c.4613T>G (p.Val1538Gly)
c.4676T>G (p.Val1559Gly)
n.724T>G
c.4088T>G (p.Val1363Gly)
c.4220T>G (p.Val1407Gly)
c.4040T>G (p.Val1347Gly)
c.3977T>G (p.Val1326Gly)
c.3821T>G (p.Val1274Gly)
c.3752T>G (p.Val1251Gly)
6g.33164403A>GCA363616360COL11A2n.740T>C
c.4934T>C (p.Val1645Ala)
c.4613T>C (p.Val1538Ala)
c.4676T>C (p.Val1559Ala)
n.724T>C
c.4088T>C (p.Val1363Ala)
c.4220T>C (p.Val1407Ala)
c.4040T>C (p.Val1347Ala)
c.3977T>C (p.Val1326Ala)
c.3821T>C (p.Val1274Ala)
c.3752T>C (p.Val1251Ala)
 ClinVar dbSNP gnomAD v4
6g.33164403A>TCA363616356COL11A2n.740T>A
c.4934T>A (p.Val1645Asp)
c.4613T>A (p.Val1538Asp)
c.4676T>A (p.Val1559Asp)
n.724T>A
c.4088T>A (p.Val1363Asp)
c.4220T>A (p.Val1407Asp)
c.4040T>A (p.Val1347Asp)
c.3977T>A (p.Val1326Asp)
c.3821T>A (p.Val1274Asp)
c.3752T>A (p.Val1251Asp)
6g.33164404C>ACA3749950COL11A2n.739G>T
c.4933G>T (p.Val1645Phe)
c.4612G>T (p.Val1538Phe)
c.4675G>T (p.Val1559Phe)
n.723G>T
c.4087G>T (p.Val1363Phe)
c.4219G>T (p.Val1407Phe)
c.4039G>T (p.Val1347Phe)
c.3976G>T (p.Val1326Phe)
c.3820G>T (p.Val1274Phe)
c.3751G>T (p.Val1251Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164404C=CA1619889782COL11A2n.739G=
c.4933G= (p.Val1645=)
c.4612G= (p.Val1538=)
c.4675G= (p.Val1559=)
n.723G=
c.4087G= (p.Val1363=)
c.4219G= (p.Val1407=)
c.4039G= (p.Val1347=)
c.3976G= (p.Val1326=)
c.3820G= (p.Val1274=)
c.3751G= (p.Val1251=)
6g.33164404C>GCA363616362COL11A2n.739G>C
c.4933G>C (p.Val1645Leu)
c.4612G>C (p.Val1538Leu)
c.4675G>C (p.Val1559Leu)
n.723G>C
c.4087G>C (p.Val1363Leu)
c.4219G>C (p.Val1407Leu)
c.4039G>C (p.Val1347Leu)
c.3976G>C (p.Val1326Leu)
c.3820G>C (p.Val1274Leu)
c.3751G>C (p.Val1251Leu)
6g.33164404C>TCA3749949COL11A2n.739G>A
c.4933G>A (p.Val1645Ile)
c.4612G>A (p.Val1538Ile)
c.4675G>A (p.Val1559Ile)
n.723G>A
c.4087G>A (p.Val1363Ile)
c.4219G>A (p.Val1407Ile)
c.4039G>A (p.Val1347Ile)
c.3976G>A (p.Val1326Ile)
c.3820G>A (p.Val1274Ile)
c.3751G>A (p.Val1251Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33164405G>ACA3749951COL11A2n.738C>T
c.4932C>T (p.Ser1644=)
c.4611C>T (p.Ser1537=)
c.4674C>T (p.Ser1558=)
n.722C>T
c.4086C>T (p.Ser1362=)
c.4218C>T (p.Ser1406=)
c.4038C>T (p.Ser1346=)
c.3975C>T (p.Ser1325=)
c.3819C>T (p.Ser1273=)
c.3750C>T (p.Ser1250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164405G>CCA363616367COL11A2n.738C>G
c.4932C>G (p.Ser1644Arg)
c.4611C>G (p.Ser1537Arg)
c.4674C>G (p.Ser1558Arg)
n.722C>G
c.4086C>G (p.Ser1362Arg)
c.4218C>G (p.Ser1406Arg)
c.4038C>G (p.Ser1346Arg)
c.3975C>G (p.Ser1325Arg)
c.3819C>G (p.Ser1273Arg)
c.3750C>G (p.Ser1250Arg)
6g.33164405G=CA1619889788COL11A2n.738C=
c.4932C= (p.Ser1644=)
c.4611C= (p.Ser1537=)
c.4674C= (p.Ser1558=)
n.722C=
c.4086C= (p.Ser1362=)
c.4218C= (p.Ser1406=)
c.4038C= (p.Ser1346=)
c.3975C= (p.Ser1325=)
c.3819C= (p.Ser1273=)
c.3750C= (p.Ser1250=)
6g.33164405G>TCA363616365COL11A2n.738C>A
c.4932C>A (p.Ser1644Arg)
c.4611C>A (p.Ser1537Arg)
c.4674C>A (p.Ser1558Arg)
n.722C>A
c.4086C>A (p.Ser1362Arg)
c.4218C>A (p.Ser1406Arg)
c.4038C>A (p.Ser1346Arg)
c.3975C>A (p.Ser1325Arg)
c.3819C>A (p.Ser1273Arg)
c.3750C>A (p.Ser1250Arg)
 gnomAD v4
6g.33164406C>ACA363616368COL11A2n.737G>T
c.4931G>T (p.Ser1644Ile)
c.4610G>T (p.Ser1537Ile)
c.4673G>T (p.Ser1558Ile)
n.721G>T
c.4085G>T (p.Ser1362Ile)
c.4217G>T (p.Ser1406Ile)
c.4037G>T (p.Ser1346Ile)
c.3974G>T (p.Ser1325Ile)
c.3818G>T (p.Ser1273Ile)
c.3749G>T (p.Ser1250Ile)
6g.33164406C>GCA363616369COL11A2n.737G>C
c.4931G>C (p.Ser1644Thr)
c.4610G>C (p.Ser1537Thr)
c.4673G>C (p.Ser1558Thr)
n.721G>C
c.4085G>C (p.Ser1362Thr)
c.4217G>C (p.Ser1406Thr)
c.4037G>C (p.Ser1346Thr)
c.3974G>C (p.Ser1325Thr)
c.3818G>C (p.Ser1273Thr)
c.3749G>C (p.Ser1250Thr)
6g.33164406C>TCA363616370COL11A2n.737G>A
c.4931G>A (p.Ser1644Asn)
c.4610G>A (p.Ser1537Asn)
c.4673G>A (p.Ser1558Asn)
n.721G>A
c.4085G>A (p.Ser1362Asn)
c.4217G>A (p.Ser1406Asn)
c.4037G>A (p.Ser1346Asn)
c.3974G>A (p.Ser1325Asn)
c.3818G>A (p.Ser1273Asn)
c.3749G>A (p.Ser1250Asn)
 gnomAD v4
6g.33164407T>ACA363616372COL11A2n.736A>T
c.4930A>T (p.Ser1644Cys)
c.4609A>T (p.Ser1537Cys)
c.4672A>T (p.Ser1558Cys)
n.720A>T
c.4084A>T (p.Ser1362Cys)
c.4216A>T (p.Ser1406Cys)
c.4036A>T (p.Ser1346Cys)
c.3973A>T (p.Ser1325Cys)
c.3817A>T (p.Ser1273Cys)
c.3748A>T (p.Ser1250Cys)
6g.33164407T>CCA363616373COL11A2n.736A>G
c.4930A>G (p.Ser1644Gly)
c.4609A>G (p.Ser1537Gly)
c.4672A>G (p.Ser1558Gly)
n.720A>G
c.4084A>G (p.Ser1362Gly)
c.4216A>G (p.Ser1406Gly)
c.4036A>G (p.Ser1346Gly)
c.3973A>G (p.Ser1325Gly)
c.3817A>G (p.Ser1273Gly)
c.3748A>G (p.Ser1250Gly)
 dbSNP
6g.33164407T>GCA363616375COL11A2n.736A>C
c.4930A>C (p.Ser1644Arg)
c.4609A>C (p.Ser1537Arg)
c.4672A>C (p.Ser1558Arg)
n.720A>C
c.4084A>C (p.Ser1362Arg)
c.4216A>C (p.Ser1406Arg)
c.4036A>C (p.Ser1346Arg)
c.3973A>C (p.Ser1325Arg)
c.3817A>C (p.Ser1273Arg)
c.3748A>C (p.Ser1250Arg)
6g.33164407T=CA1619889792COL11A2n.736A=
c.4930A= (p.Ser1644=)
c.4609A= (p.Ser1537=)
c.4672A= (p.Ser1558=)
n.720A=
c.4084A= (p.Ser1362=)
c.4216A= (p.Ser1406=)
c.4036A= (p.Ser1346=)
c.3973A= (p.Ser1325=)
c.3817A= (p.Ser1273=)
c.3748A= (p.Ser1250=)
6g.33164408G>ACA3749953COL11A2n.735C>T
c.4929C>T (p.Leu1643=)
c.4608C>T (p.Leu1536=)
c.4671C>T (p.Leu1557=)
n.719C>T
c.4083C>T (p.Leu1361=)
c.4215C>T (p.Leu1405=)
c.4035C>T (p.Leu1345=)
c.3972C>T (p.Leu1324=)
c.3816C>T (p.Leu1272=)
c.3747C>T (p.Leu1249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164408G>CCA449867030COL11A2n.735C>G
c.4929C>G (p.Leu1643=)
c.4608C>G (p.Leu1536=)
c.4671C>G (p.Leu1557=)
n.719C>G
c.4083C>G (p.Leu1361=)
c.4215C>G (p.Leu1405=)
c.4035C>G (p.Leu1345=)
c.3972C>G (p.Leu1324=)
c.3816C>G (p.Leu1272=)
c.3747C>G (p.Leu1249=)
 ClinVar dbSNP gnomAD v4
6g.33164408G=CA1619889793COL11A2n.735C=
c.4929C= (p.Leu1643=)
c.4608C= (p.Leu1536=)
c.4671C= (p.Leu1557=)
n.719C=
c.4083C= (p.Leu1361=)
c.4215C= (p.Leu1405=)
c.4035C= (p.Leu1345=)
c.3972C= (p.Leu1324=)
c.3816C= (p.Leu1272=)
c.3747C= (p.Leu1249=)
6g.33164408G>TCA449867031COL11A2n.735C>A
c.4929C>A (p.Leu1643=)
c.4608C>A (p.Leu1536=)
c.4671C>A (p.Leu1557=)
n.719C>A
c.4083C>A (p.Leu1361=)
c.4215C>A (p.Leu1405=)
c.4035C>A (p.Leu1345=)
c.3972C>A (p.Leu1324=)
c.3816C>A (p.Leu1272=)
c.3747C>A (p.Leu1249=)
 gnomAD v4
6g.33164408dupCA3749952COL11A2n.735dup
c.4929dup (p.Ser1644GlnfsTer18)
c.4608dup (p.Ser1537GlnfsTer18)
c.4671dup (p.Ser1558GlnfsTer18)
n.719dup
c.4083dup (p.Ser1362GlnfsTer18)
c.4215dup (p.Ser1406GlnfsTer18)
c.4035dup (p.Ser1346GlnfsTer18)
c.3972dup (p.Ser1325GlnfsTer18)
c.3816dup (p.Ser1273GlnfsTer18)
c.3747dup (p.Ser1250GlnfsTer18)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164409A>CCA363616377COL11A2n.734T>G
c.4928T>G (p.Leu1643Arg)
c.4607T>G (p.Leu1536Arg)
c.4670T>G (p.Leu1557Arg)
n.718T>G
c.4082T>G (p.Leu1361Arg)
c.4214T>G (p.Leu1405Arg)
c.4034T>G (p.Leu1345Arg)
c.3971T>G (p.Leu1324Arg)
c.3815T>G (p.Leu1272Arg)
c.3746T>G (p.Leu1249Arg)
6g.33164409A>GCA363616378COL11A2n.734T>C
c.4928T>C (p.Leu1643Pro)
c.4607T>C (p.Leu1536Pro)
c.4670T>C (p.Leu1557Pro)
n.718T>C
c.4082T>C (p.Leu1361Pro)
c.4214T>C (p.Leu1405Pro)
c.4034T>C (p.Leu1345Pro)
c.3971T>C (p.Leu1324Pro)
c.3815T>C (p.Leu1272Pro)
c.3746T>C (p.Leu1249Pro)
6g.33164409A>TCA363616379COL11A2n.734T>A
c.4928T>A (p.Leu1643His)
c.4607T>A (p.Leu1536His)
c.4670T>A (p.Leu1557His)
n.718T>A
c.4082T>A (p.Leu1361His)
c.4214T>A (p.Leu1405His)
c.4034T>A (p.Leu1345His)
c.3971T>A (p.Leu1324His)
c.3815T>A (p.Leu1272His)
c.3746T>A (p.Leu1249His)
6g.33164410G>ACA363616386COL11A2n.733C>T
c.4927C>T (p.Leu1643Phe)
c.4606C>T (p.Leu1536Phe)
c.4669C>T (p.Leu1557Phe)
n.717C>T
c.4081C>T (p.Leu1361Phe)
c.4213C>T (p.Leu1405Phe)
c.4033C>T (p.Leu1345Phe)
c.3970C>T (p.Leu1324Phe)
c.3814C>T (p.Leu1272Phe)
c.3745C>T (p.Leu1249Phe)
 gnomAD v4
6g.33164410G>CCA363616381COL11A2n.733C>G
c.4927C>G (p.Leu1643Val)
c.4606C>G (p.Leu1536Val)
c.4669C>G (p.Leu1557Val)
n.717C>G
c.4081C>G (p.Leu1361Val)
c.4213C>G (p.Leu1405Val)
c.4033C>G (p.Leu1345Val)
c.3970C>G (p.Leu1324Val)
c.3814C>G (p.Leu1272Val)
c.3745C>G (p.Leu1249Val)
6g.33164410G>TCA363616383COL11A2n.733C>A
c.4927C>A (p.Leu1643Ile)
c.4606C>A (p.Leu1536Ile)
c.4669C>A (p.Leu1557Ile)
n.717C>A
c.4081C>A (p.Leu1361Ile)
c.4213C>A (p.Leu1405Ile)
c.4033C>A (p.Leu1345Ile)
c.3970C>A (p.Leu1324Ile)
c.3814C>A (p.Leu1272Ile)
c.3745C>A (p.Leu1249Ile)
6g.33164411C>ACA137061453COL11A2n.732G>T
c.4926G>T (p.Leu1642=)
c.4605G>T (p.Leu1535=)
c.4668G>T (p.Leu1556=)
n.716G>T
c.4080G>T (p.Leu1360=)
c.4212G>T (p.Leu1404=)
c.4032G>T (p.Leu1344=)
c.3969G>T (p.Leu1323=)
c.3813G>T (p.Leu1271=)
c.3744G>T (p.Leu1248=)
 dbSNP gnomAD v4
6g.33164411C=CA1619889795COL11A2n.732G=
c.4926G= (p.Leu1642=)
c.4605G= (p.Leu1535=)
c.4668G= (p.Leu1556=)
n.716G=
c.4080G= (p.Leu1360=)
c.4212G= (p.Leu1404=)
c.4032G= (p.Leu1344=)
c.3969G= (p.Leu1323=)
c.3813G= (p.Leu1271=)
c.3744G= (p.Leu1248=)
6g.33164411C>GCA449867033COL11A2n.732G>C
c.4926G>C (p.Leu1642=)
c.4605G>C (p.Leu1535=)
c.4668G>C (p.Leu1556=)
n.716G>C
c.4080G>C (p.Leu1360=)
c.4212G>C (p.Leu1404=)
c.4032G>C (p.Leu1344=)
c.3969G>C (p.Leu1323=)
c.3813G>C (p.Leu1271=)
c.3744G>C (p.Leu1248=)
6g.33164411C>TCA449867034COL11A2n.732G>A
c.4926G>A (p.Leu1642=)
c.4605G>A (p.Leu1535=)
c.4668G>A (p.Leu1556=)
n.716G>A
c.4080G>A (p.Leu1360=)
c.4212G>A (p.Leu1404=)
c.4032G>A (p.Leu1344=)
c.3969G>A (p.Leu1323=)
c.3813G>A (p.Leu1271=)
c.3744G>A (p.Leu1248=)
6g.33164412A>CCA363616388COL11A2n.731T>G
c.4925T>G (p.Leu1642Arg)
c.4604T>G (p.Leu1535Arg)
c.4667T>G (p.Leu1556Arg)
n.715T>G
c.4079T>G (p.Leu1360Arg)
c.4211T>G (p.Leu1404Arg)
c.4031T>G (p.Leu1344Arg)
c.3968T>G (p.Leu1323Arg)
c.3812T>G (p.Leu1271Arg)
c.3743T>G (p.Leu1248Arg)
6g.33164412A>GCA363616390COL11A2n.731T>C
c.4925T>C (p.Leu1642Pro)
c.4604T>C (p.Leu1535Pro)
c.4667T>C (p.Leu1556Pro)
n.715T>C
c.4079T>C (p.Leu1360Pro)
c.4211T>C (p.Leu1404Pro)
c.4031T>C (p.Leu1344Pro)
c.3968T>C (p.Leu1323Pro)
c.3812T>C (p.Leu1271Pro)
c.3743T>C (p.Leu1248Pro)
6g.33164412A>TCA363616393COL11A2n.731T>A
c.4925T>A (p.Leu1642Gln)
c.4604T>A (p.Leu1535Gln)
c.4667T>A (p.Leu1556Gln)
n.715T>A
c.4079T>A (p.Leu1360Gln)
c.4211T>A (p.Leu1404Gln)
c.4031T>A (p.Leu1344Gln)
c.3968T>A (p.Leu1323Gln)
c.3812T>A (p.Leu1271Gln)
c.3743T>A (p.Leu1248Gln)
6g.33164413G>ACA449867035COL11A2n.730C>T
c.4924C>T (p.Leu1642=)
c.4603C>T (p.Leu1535=)
c.4666C>T (p.Leu1556=)
n.714C>T
c.4078C>T (p.Leu1360=)
c.4210C>T (p.Leu1404=)
c.4030C>T (p.Leu1344=)
c.3967C>T (p.Leu1323=)
c.3811C>T (p.Leu1271=)
c.3742C>T (p.Leu1248=)
 ClinVar
6g.33164413G>CCA3749954COL11A2n.730C>G
c.4924C>G (p.Leu1642Val)
c.4603C>G (p.Leu1535Val)
c.4666C>G (p.Leu1556Val)
n.714C>G
c.4078C>G (p.Leu1360Val)
c.4210C>G (p.Leu1404Val)
c.4030C>G (p.Leu1344Val)
c.3967C>G (p.Leu1323Val)
c.3811C>G (p.Leu1271Val)
c.3742C>G (p.Leu1248Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164413G=CA1619889799COL11A2n.730C=
c.4924C= (p.Leu1642=)
c.4603C= (p.Leu1535=)
c.4666C= (p.Leu1556=)
n.714C=
c.4078C= (p.Leu1360=)
c.4210C= (p.Leu1404=)
c.4030C= (p.Leu1344=)
c.3967C= (p.Leu1323=)
c.3811C= (p.Leu1271=)
c.3742C= (p.Leu1248=)
6g.33164413G>TCA363616397COL11A2n.730C>A
c.4924C>A (p.Leu1642Met)
c.4603C>A (p.Leu1535Met)
c.4666C>A (p.Leu1556Met)
n.714C>A
c.4078C>A (p.Leu1360Met)
c.4210C>A (p.Leu1404Met)
c.4030C>A (p.Leu1344Met)
c.3967C>A (p.Leu1323Met)
c.3811C>A (p.Leu1271Met)
c.3742C>A (p.Leu1248Met)
6g.33164414C>ACA449867036COL11A2n.729G>T
c.4923G>T (p.Arg1641=)
c.4602G>T (p.Arg1534=)
c.4665G>T (p.Arg1555=)
n.713G>T
c.4077G>T (p.Arg1359=)
c.4209G>T (p.Arg1403=)
c.4029G>T (p.Arg1343=)
c.3966G>T (p.Arg1322=)
c.3810G>T (p.Arg1270=)
c.3741G>T (p.Arg1247=)
6g.33164414C=CA1619889802COL11A2n.729G=
c.4923G= (p.Arg1641=)
c.4602G= (p.Arg1534=)
c.4665G= (p.Arg1555=)
n.713G=
c.4077G= (p.Arg1359=)
c.4209G= (p.Arg1403=)
c.4029G= (p.Arg1343=)
c.3966G= (p.Arg1322=)
c.3810G= (p.Arg1270=)
c.3741G= (p.Arg1247=)
6g.33164414C>GCA449867038COL11A2n.729G>C
c.4923G>C (p.Arg1641=)
c.4602G>C (p.Arg1534=)
c.4665G>C (p.Arg1555=)
n.713G>C
c.4077G>C (p.Arg1359=)
c.4209G>C (p.Arg1403=)
c.4029G>C (p.Arg1343=)
c.3966G>C (p.Arg1322=)
c.3810G>C (p.Arg1270=)
c.3741G>C (p.Arg1247=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164414C>TCA449867037COL11A2n.729G>A
c.4923G>A (p.Arg1641=)
c.4602G>A (p.Arg1534=)
c.4665G>A (p.Arg1555=)
n.713G>A
c.4077G>A (p.Arg1359=)
c.4209G>A (p.Arg1403=)
c.4029G>A (p.Arg1343=)
c.3966G>A (p.Arg1322=)
c.3810G>A (p.Arg1270=)
c.3741G>A (p.Arg1247=)
 ClinVar
6g.33164415C>ACA363616400COL11A2n.728G>T
c.4922G>T (p.Arg1641Leu)
c.4601G>T (p.Arg1534Leu)
c.4664G>T (p.Arg1555Leu)
n.712G>T
c.4076G>T (p.Arg1359Leu)
c.4208G>T (p.Arg1403Leu)
c.4028G>T (p.Arg1343Leu)
c.3965G>T (p.Arg1322Leu)
c.3809G>T (p.Arg1270Leu)
c.3740G>T (p.Arg1247Leu)
6g.33164415C=CA1619889805COL11A2n.728G=
c.4922G= (p.Arg1641=)
c.4601G= (p.Arg1534=)
c.4664G= (p.Arg1555=)
n.712G=
c.4076G= (p.Arg1359=)
c.4208G= (p.Arg1403=)
c.4028G= (p.Arg1343=)
c.3965G= (p.Arg1322=)
c.3809G= (p.Arg1270=)
c.3740G= (p.Arg1247=)
6g.33164415C>GCA363616403COL11A2n.728G>C
c.4922G>C (p.Arg1641Pro)
c.4601G>C (p.Arg1534Pro)
c.4664G>C (p.Arg1555Pro)
n.712G>C
c.4076G>C (p.Arg1359Pro)
c.4208G>C (p.Arg1403Pro)
c.4028G>C (p.Arg1343Pro)
c.3965G>C (p.Arg1322Pro)
c.3809G>C (p.Arg1270Pro)
c.3740G>C (p.Arg1247Pro)
6g.33164415C>TCA3749955COL11A2n.728G>A
c.4922G>A (p.Arg1641Gln)
c.4601G>A (p.Arg1534Gln)
c.4664G>A (p.Arg1555Gln)
n.712G>A
c.4076G>A (p.Arg1359Gln)
c.4208G>A (p.Arg1403Gln)
c.4028G>A (p.Arg1343Gln)
c.3965G>A (p.Arg1322Gln)
c.3809G>A (p.Arg1270Gln)
c.3740G>A (p.Arg1247Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164416G>ACA363616412COL11A2n.727C>T
c.4921C>T (p.Arg1641Trp)
c.4600C>T (p.Arg1534Trp)
c.4663C>T (p.Arg1555Trp)
n.711C>T
c.4075C>T (p.Arg1359Trp)
c.4207C>T (p.Arg1403Trp)
c.4027C>T (p.Arg1343Trp)
c.3964C>T (p.Arg1322Trp)
c.3808C>T (p.Arg1270Trp)
c.3739C>T (p.Arg1247Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.33164416G>CCA363616414COL11A2n.727C>G
c.4921C>G (p.Arg1641Gly)
c.4600C>G (p.Arg1534Gly)
c.4663C>G (p.Arg1555Gly)
n.711C>G
c.4075C>G (p.Arg1359Gly)
c.4207C>G (p.Arg1403Gly)
c.4027C>G (p.Arg1343Gly)
c.3964C>G (p.Arg1322Gly)
c.3808C>G (p.Arg1270Gly)
c.3739C>G (p.Arg1247Gly)
6g.33164416G>TCA449867039COL11A2n.727C>A
c.4921C>A (p.Arg1641=)
c.4600C>A (p.Arg1534=)
c.4663C>A (p.Arg1555=)
n.711C>A
c.4075C>A (p.Arg1359=)
c.4207C>A (p.Arg1403=)
c.4027C>A (p.Arg1343=)
c.3964C>A (p.Arg1322=)
c.3808C>A (p.Arg1270=)
c.3739C>A (p.Arg1247=)
 gnomAD v4
6g.33164417C>ACA449867040COL11A2n.726G>T
c.4920G>T (p.Leu1640=)
c.4599G>T (p.Leu1533=)
c.4662G>T (p.Leu1554=)
n.710G>T
c.4074G>T (p.Leu1358=)
c.4206G>T (p.Leu1402=)
c.4026G>T (p.Leu1342=)
c.3963G>T (p.Leu1321=)
c.3807G>T (p.Leu1269=)
c.3738G>T (p.Leu1246=)
 gnomAD v4
6g.33164417C>GCA449867041COL11A2n.726G>C
c.4920G>C (p.Leu1640=)
c.4599G>C (p.Leu1533=)
c.4662G>C (p.Leu1554=)
n.710G>C
c.4074G>C (p.Leu1358=)
c.4206G>C (p.Leu1402=)
c.4026G>C (p.Leu1342=)
c.3963G>C (p.Leu1321=)
c.3807G>C (p.Leu1269=)
c.3738G>C (p.Leu1246=)
6g.33164417C>TCA449867042COL11A2n.726G>A
c.4920G>A (p.Leu1640=)
c.4599G>A (p.Leu1533=)
c.4662G>A (p.Leu1554=)
n.710G>A
c.4074G>A (p.Leu1358=)
c.4206G>A (p.Leu1402=)
c.4026G>A (p.Leu1342=)
c.3963G>A (p.Leu1321=)
c.3807G>A (p.Leu1269=)
c.3738G>A (p.Leu1246=)
6g.33164418A>CCA363616421COL11A2n.725T>G
c.4919T>G (p.Leu1640Arg)
c.4598T>G (p.Leu1533Arg)
c.4661T>G (p.Leu1554Arg)
n.709T>G
c.4073T>G (p.Leu1358Arg)
c.4205T>G (p.Leu1402Arg)
c.4025T>G (p.Leu1342Arg)
c.3962T>G (p.Leu1321Arg)
c.3806T>G (p.Leu1269Arg)
c.3737T>G (p.Leu1246Arg)
6g.33164418A>GCA363616419COL11A2n.725T>C
c.4919T>C (p.Leu1640Pro)
c.4598T>C (p.Leu1533Pro)
c.4661T>C (p.Leu1554Pro)
n.709T>C
c.4073T>C (p.Leu1358Pro)
c.4205T>C (p.Leu1402Pro)
c.4025T>C (p.Leu1342Pro)
c.3962T>C (p.Leu1321Pro)
c.3806T>C (p.Leu1269Pro)
c.3737T>C (p.Leu1246Pro)
6g.33164418A>TCA363616417COL11A2n.725T>A
c.4919T>A (p.Leu1640Gln)
c.4598T>A (p.Leu1533Gln)
c.4661T>A (p.Leu1554Gln)
n.709T>A
c.4073T>A (p.Leu1358Gln)
c.4205T>A (p.Leu1402Gln)
c.4025T>A (p.Leu1342Gln)
c.3962T>A (p.Leu1321Gln)
c.3806T>A (p.Leu1269Gln)
c.3737T>A (p.Leu1246Gln)
6g.33164419G>ACA3749956COL11A2n.724C>T
c.4918C>T (p.Leu1640=)
c.4597C>T (p.Leu1533=)
c.4660C>T (p.Leu1554=)
n.708C>T
c.4072C>T (p.Leu1358=)
c.4204C>T (p.Leu1402=)
c.4024C>T (p.Leu1342=)
c.3961C>T (p.Leu1321=)
c.3805C>T (p.Leu1269=)
c.3736C>T (p.Leu1246=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33164419G>CCA363616425COL11A2n.724C>G
c.4918C>G (p.Leu1640Val)
c.4597C>G (p.Leu1533Val)
c.4660C>G (p.Leu1554Val)
n.708C>G
c.4072C>G (p.Leu1358Val)
c.4204C>G (p.Leu1402Val)
c.4024C>G (p.Leu1342Val)
c.3961C>G (p.Leu1321Val)
c.3805C>G (p.Leu1269Val)
c.3736C>G (p.Leu1246Val)
6g.33164419G=CA1619889807COL11A2n.724C=
c.4918C= (p.Leu1640=)
c.4597C= (p.Leu1533=)
c.4660C= (p.Leu1554=)
n.708C=
c.4072C= (p.Leu1358=)
c.4204C= (p.Leu1402=)
c.4024C= (p.Leu1342=)
c.3961C= (p.Leu1321=)
c.3805C= (p.Leu1269=)
c.3736C= (p.Leu1246=)
6g.33164419G>TCA363616428COL11A2n.724C>A
c.4918C>A (p.Leu1640Met)
c.4597C>A (p.Leu1533Met)
c.4660C>A (p.Leu1554Met)
n.708C>A
c.4072C>A (p.Leu1358Met)
c.4204C>A (p.Leu1402Met)
c.4024C>A (p.Leu1342Met)
c.3961C>A (p.Leu1321Met)
c.3805C>A (p.Leu1269Met)
c.3736C>A (p.Leu1246Met)
6g.33164420G>ACA3749957COL11A2n.723C>T
c.4917C>T (p.Phe1639=)
c.4596C>T (p.Phe1532=)
c.4659C>T (p.Phe1553=)
n.707C>T
c.4071C>T (p.Phe1357=)
c.4203C>T (p.Phe1401=)
c.4023C>T (p.Phe1341=)
c.3960C>T (p.Phe1320=)
c.3804C>T (p.Phe1268=)
c.3735C>T (p.Phe1245=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33164420G>CCA363616432COL11A2n.723C>G
c.4917C>G (p.Phe1639Leu)
c.4596C>G (p.Phe1532Leu)
c.4659C>G (p.Phe1553Leu)
n.707C>G
c.4071C>G (p.Phe1357Leu)
c.4203C>G (p.Phe1401Leu)
c.4023C>G (p.Phe1341Leu)
c.3960C>G (p.Phe1320Leu)
c.3804C>G (p.Phe1268Leu)
c.3735C>G (p.Phe1245Leu)
6g.33164420G=CA1619889812COL11A2n.723C=
c.4917C= (p.Phe1639=)
c.4596C= (p.Phe1532=)
c.4659C= (p.Phe1553=)
n.707C=
c.4071C= (p.Phe1357=)
c.4203C= (p.Phe1401=)
c.4023C= (p.Phe1341=)
c.3960C= (p.Phe1320=)
c.3804C= (p.Phe1268=)
c.3735C= (p.Phe1245=)
6g.33164420G>TCA363616433COL11A2n.723C>A
c.4917C>A (p.Phe1639Leu)
c.4596C>A (p.Phe1532Leu)
c.4659C>A (p.Phe1553Leu)
n.707C>A
c.4071C>A (p.Phe1357Leu)
c.4203C>A (p.Phe1401Leu)
c.4023C>A (p.Phe1341Leu)
c.3960C>A (p.Phe1320Leu)
c.3804C>A (p.Phe1268Leu)
c.3735C>A (p.Phe1245Leu)
6g.33164421A>CCA363616436COL11A2n.722T>G
c.4916T>G (p.Phe1639Cys)
c.4595T>G (p.Phe1532Cys)
c.4658T>G (p.Phe1553Cys)
n.706T>G
c.4070T>G (p.Phe1357Cys)
c.4202T>G (p.Phe1401Cys)
c.4022T>G (p.Phe1341Cys)
c.3959T>G (p.Phe1320Cys)
c.3803T>G (p.Phe1268Cys)
c.3734T>G (p.Phe1245Cys)
6g.33164421A>GCA363616439COL11A2n.722T>C
c.4916T>C (p.Phe1639Ser)
c.4595T>C (p.Phe1532Ser)
c.4658T>C (p.Phe1553Ser)
n.706T>C
c.4070T>C (p.Phe1357Ser)
c.4202T>C (p.Phe1401Ser)
c.4022T>C (p.Phe1341Ser)
c.3959T>C (p.Phe1320Ser)
c.3803T>C (p.Phe1268Ser)
c.3734T>C (p.Phe1245Ser)
6g.33164421A>TCA363616442COL11A2n.722T>A
c.4916T>A (p.Phe1639Tyr)
c.4595T>A (p.Phe1532Tyr)
c.4658T>A (p.Phe1553Tyr)
n.706T>A
c.4070T>A (p.Phe1357Tyr)
c.4202T>A (p.Phe1401Tyr)
c.4022T>A (p.Phe1341Tyr)
c.3959T>A (p.Phe1320Tyr)
c.3803T>A (p.Phe1268Tyr)
c.3734T>A (p.Phe1245Tyr)
6g.33164422A>CCA363616443COL11A2n.721T>G
c.4915T>G (p.Phe1639Val)
c.4594T>G (p.Phe1532Val)
c.4657T>G (p.Phe1553Val)
n.705T>G
c.4069T>G (p.Phe1357Val)
c.4201T>G (p.Phe1401Val)
c.4021T>G (p.Phe1341Val)
c.3958T>G (p.Phe1320Val)
c.3802T>G (p.Phe1268Val)
c.3733T>G (p.Phe1245Val)
6g.33164422A>GCA363616445COL11A2n.721T>C
c.4915T>C (p.Phe1639Leu)
c.4594T>C (p.Phe1532Leu)
c.4657T>C (p.Phe1553Leu)
n.705T>C
c.4069T>C (p.Phe1357Leu)
c.4201T>C (p.Phe1401Leu)
c.4021T>C (p.Phe1341Leu)
c.3958T>C (p.Phe1320Leu)
c.3802T>C (p.Phe1268Leu)
c.3733T>C (p.Phe1245Leu)
6g.33164422A>TCA363616446COL11A2n.721T>A
c.4915T>A (p.Phe1639Ile)
c.4594T>A (p.Phe1532Ile)
c.4657T>A (p.Phe1553Ile)
n.705T>A
c.4069T>A (p.Phe1357Ile)
c.4201T>A (p.Phe1401Ile)
c.4021T>A (p.Phe1341Ile)
c.3958T>A (p.Phe1320Ile)
c.3802T>A (p.Phe1268Ile)
c.3733T>A (p.Phe1245Ile)
6g.33164423G>ACA137061465COL11A2n.720C>T
c.4914C>T (p.Thr1638=)
c.4593C>T (p.Thr1531=)
c.4656C>T (p.Thr1552=)
n.704C>T
c.4068C>T (p.Thr1356=)
c.4200C>T (p.Thr1400=)
c.4020C>T (p.Thr1340=)
c.3957C>T (p.Thr1319=)
c.3801C>T (p.Thr1267=)
c.3732C>T (p.Thr1244=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33164423G>CCA449867049COL11A2n.720C>G
c.4914C>G (p.Thr1638=)
c.4593C>G (p.Thr1531=)
c.4656C>G (p.Thr1552=)
n.704C>G
c.4068C>G (p.Thr1356=)
c.4200C>G (p.Thr1400=)
c.4020C>G (p.Thr1340=)
c.3957C>G (p.Thr1319=)
c.3801C>G (p.Thr1267=)
c.3732C>G (p.Thr1244=)
6g.33164423G=CA1619889817COL11A2n.720C=
c.4914C= (p.Thr1638=)
c.4593C= (p.Thr1531=)
c.4656C= (p.Thr1552=)
n.704C=
c.4068C= (p.Thr1356=)
c.4200C= (p.Thr1400=)
c.4020C= (p.Thr1340=)
c.3957C= (p.Thr1319=)
c.3801C= (p.Thr1267=)
c.3732C= (p.Thr1244=)
6g.33164423G>TCA449867047COL11A2n.720C>A
c.4914C>A (p.Thr1638=)
c.4593C>A (p.Thr1531=)
c.4656C>A (p.Thr1552=)
n.704C>A
c.4068C>A (p.Thr1356=)
c.4200C>A (p.Thr1400=)
c.4020C>A (p.Thr1340=)
c.3957C>A (p.Thr1319=)
c.3801C>A (p.Thr1267=)
c.3732C>A (p.Thr1244=)
6g.33164424G>ACA363616457COL11A2n.719C>T
c.4913C>T (p.Thr1638Ile)
c.4592C>T (p.Thr1531Ile)
c.4655C>T (p.Thr1552Ile)
n.703C>T
c.4067C>T (p.Thr1356Ile)
c.4199C>T (p.Thr1400Ile)
c.4019C>T (p.Thr1340Ile)
c.3956C>T (p.Thr1319Ile)
c.3800C>T (p.Thr1267Ile)
c.3731C>T (p.Thr1244Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.33164424G>CCA363616447COL11A2n.719C>G
c.4913C>G (p.Thr1638Ser)
c.4592C>G (p.Thr1531Ser)
c.4655C>G (p.Thr1552Ser)
n.703C>G
c.4067C>G (p.Thr1356Ser)
c.4199C>G (p.Thr1400Ser)
c.4019C>G (p.Thr1340Ser)
c.3956C>G (p.Thr1319Ser)
c.3800C>G (p.Thr1267Ser)
c.3731C>G (p.Thr1244Ser)
6g.33164424G=CA1619889820COL11A2n.719C=
c.4913C= (p.Thr1638=)
c.4592C= (p.Thr1531=)
c.4655C= (p.Thr1552=)
n.703C=
c.4067C= (p.Thr1356=)
c.4199C= (p.Thr1400=)
c.4019C= (p.Thr1340=)
c.3956C= (p.Thr1319=)
c.3800C= (p.Thr1267=)
c.3731C= (p.Thr1244=)
6g.33164424G>TCA363616450COL11A2n.719C>A
c.4913C>A (p.Thr1638Asn)
c.4592C>A (p.Thr1531Asn)
c.4655C>A (p.Thr1552Asn)
n.703C>A
c.4067C>A (p.Thr1356Asn)
c.4199C>A (p.Thr1400Asn)
c.4019C>A (p.Thr1340Asn)
c.3956C>A (p.Thr1319Asn)
c.3800C>A (p.Thr1267Asn)
c.3731C>A (p.Thr1244Asn)
 COSMIC
6g.33164425T>ACA363616460COL11A2n.718A>T
c.4912A>T (p.Thr1638Ser)
c.4591A>T (p.Thr1531Ser)
c.4654A>T (p.Thr1552Ser)
n.702A>T
c.4066A>T (p.Thr1356Ser)
c.4198A>T (p.Thr1400Ser)
c.4018A>T (p.Thr1340Ser)
c.3955A>T (p.Thr1319Ser)
c.3799A>T (p.Thr1267Ser)
c.3730A>T (p.Thr1244Ser)
6g.33164425T>CCA363616462COL11A2n.718A>G
c.4912A>G (p.Thr1638Ala)
c.4591A>G (p.Thr1531Ala)
c.4654A>G (p.Thr1552Ala)
n.702A>G
c.4066A>G (p.Thr1356Ala)
c.4198A>G (p.Thr1400Ala)
c.4018A>G (p.Thr1340Ala)
c.3955A>G (p.Thr1319Ala)
c.3799A>G (p.Thr1267Ala)
c.3730A>G (p.Thr1244Ala)
6g.33164425T>GCA363616464COL11A2n.718A>C
c.4912A>C (p.Thr1638Pro)
c.4591A>C (p.Thr1531Pro)
c.4654A>C (p.Thr1552Pro)
n.702A>C
c.4066A>C (p.Thr1356Pro)
c.4198A>C (p.Thr1400Pro)
c.4018A>C (p.Thr1340Pro)
c.3955A>C (p.Thr1319Pro)
c.3799A>C (p.Thr1267Pro)
c.3730A>C (p.Thr1244Pro)
6g.33164426G>ACA3749958COL11A2n.717C>T
c.4911C>T (p.Leu1637=)
c.4590C>T (p.Leu1530=)
c.4653C>T (p.Leu1551=)
n.701C>T
c.4065C>T (p.Leu1355=)
c.4197C>T (p.Leu1399=)
c.4017C>T (p.Leu1339=)
c.3954C>T (p.Leu1318=)
c.3798C>T (p.Leu1266=)
c.3729C>T (p.Leu1243=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.33164426G>CCA449867053COL11A2n.717C>G
c.4911C>G (p.Leu1637=)
c.4590C>G (p.Leu1530=)
c.4653C>G (p.Leu1551=)
n.701C>G
c.4065C>G (p.Leu1355=)
c.4197C>G (p.Leu1399=)
c.4017C>G (p.Leu1339=)
c.3954C>G (p.Leu1318=)
c.3798C>G (p.Leu1266=)
c.3729C>G (p.Leu1243=)
6g.33164426G=CA1619889823COL11A2n.717C=
c.4911C= (p.Leu1637=)
c.4590C= (p.Leu1530=)
c.4653C= (p.Leu1551=)
n.701C=
c.4065C= (p.Leu1355=)
c.4197C= (p.Leu1399=)
c.4017C= (p.Leu1339=)
c.3954C= (p.Leu1318=)
c.3798C= (p.Leu1266=)
c.3729C= (p.Leu1243=)
6g.33164426G>TCA449867054COL11A2n.717C>A
c.4911C>A (p.Leu1637=)
c.4590C>A (p.Leu1530=)
c.4653C>A (p.Leu1551=)
n.701C>A
c.4065C>A (p.Leu1355=)
c.4197C>A (p.Leu1399=)
c.4017C>A (p.Leu1339=)
c.3954C>A (p.Leu1318=)
c.3798C>A (p.Leu1266=)
c.3729C>A (p.Leu1243=)
6g.33164427A>CCA363616467COL11A2n.716T>G
c.4910T>G (p.Leu1637Arg)
c.4589T>G (p.Leu1530Arg)
c.4652T>G (p.Leu1551Arg)
n.700T>G
c.4064T>G (p.Leu1355Arg)
c.4196T>G (p.Leu1399Arg)
c.4016T>G (p.Leu1339Arg)
c.3953T>G (p.Leu1318Arg)
c.3797T>G (p.Leu1266Arg)
c.3728T>G (p.Leu1243Arg)
6g.33164427A>GCA363616470COL11A2n.716T>C
c.4910T>C (p.Leu1637Pro)
c.4589T>C (p.Leu1530Pro)
c.4652T>C (p.Leu1551Pro)
n.700T>C
c.4064T>C (p.Leu1355Pro)
c.4196T>C (p.Leu1399Pro)
c.4016T>C (p.Leu1339Pro)
c.3953T>C (p.Leu1318Pro)
c.3797T>C (p.Leu1266Pro)
c.3728T>C (p.Leu1243Pro)
 gnomAD v4
6g.33164427A>TCA363616473COL11A2n.716T>A
c.4910T>A (p.Leu1637His)
c.4589T>A (p.Leu1530His)
c.4652T>A (p.Leu1551His)
n.700T>A
c.4064T>A (p.Leu1355His)
c.4196T>A (p.Leu1399His)
c.4016T>A (p.Leu1339His)
c.3953T>A (p.Leu1318His)
c.3797T>A (p.Leu1266His)
c.3728T>A (p.Leu1243His)
6g.33164428G>ACA363616475COL11A2n.715C>T
c.4909C>T (p.Leu1637Phe)
c.4588C>T (p.Leu1530Phe)
c.4651C>T (p.Leu1551Phe)
n.699C>T
c.4063C>T (p.Leu1355Phe)
c.4195C>T (p.Leu1399Phe)
c.4015C>T (p.Leu1339Phe)
c.3952C>T (p.Leu1318Phe)
c.3796C>T (p.Leu1266Phe)
c.3727C>T (p.Leu1243Phe)
 gnomAD v4
6g.33164428G>CCA363616478COL11A2n.715C>G
c.4909C>G (p.Leu1637Val)
c.4588C>G (p.Leu1530Val)
c.4651C>G (p.Leu1551Val)
n.699C>G
c.4063C>G (p.Leu1355Val)
c.4195C>G (p.Leu1399Val)
c.4015C>G (p.Leu1339Val)
c.3952C>G (p.Leu1318Val)
c.3796C>G (p.Leu1266Val)
c.3727C>G (p.Leu1243Val)
 dbSNP gnomAD v2
6g.33164428G=CA1619889826COL11A2n.715C=
c.4909C= (p.Leu1637=)
c.4588C= (p.Leu1530=)
c.4651C= (p.Leu1551=)
n.699C=
c.4063C= (p.Leu1355=)
c.4195C= (p.Leu1399=)
c.4015C= (p.Leu1339=)
c.3952C= (p.Leu1318=)
c.3796C= (p.Leu1266=)
c.3727C= (p.Leu1243=)
6g.33164428G>TCA363616481COL11A2n.715C>A
c.4909C>A (p.Leu1637Ile)
c.4588C>A (p.Leu1530Ile)
c.4651C>A (p.Leu1551Ile)
n.699C>A
c.4063C>A (p.Leu1355Ile)
c.4195C>A (p.Leu1399Ile)
c.4015C>A (p.Leu1339Ile)
c.3952C>A (p.Leu1318Ile)
c.3796C>A (p.Leu1266Ile)
c.3727C>A (p.Leu1243Ile)
6g.33164429C>ACA363616483COL11A2n.714G>T
c.4908G>T (p.Gln1636His)
c.4587G>T (p.Gln1529His)
c.4650G>T (p.Gln1550His)
n.698G>T
c.4062G>T (p.Gln1354His)
c.4194G>T (p.Gln1398His)
c.4014G>T (p.Gln1338His)
c.3951G>T (p.Gln1317His)
c.3795G>T (p.Gln1265His)
c.3726G>T (p.Gln1242His)
 gnomAD v4
6g.33164429C=CA1619889829COL11A2n.714G=
c.4908G= (p.Gln1636=)
c.4587G= (p.Gln1529=)
c.4650G= (p.Gln1550=)
n.698G=
c.4062G= (p.Gln1354=)
c.4194G= (p.Gln1398=)
c.4014G= (p.Gln1338=)
c.3951G= (p.Gln1317=)
c.3795G= (p.Gln1265=)
c.3726G= (p.Gln1242=)
6g.33164429C>GCA363616486COL11A2n.714G>C
c.4908G>C (p.Gln1636His)
c.4587G>C (p.Gln1529His)
c.4650G>C (p.Gln1550His)
n.698G>C
c.4062G>C (p.Gln1354His)
c.4194G>C (p.Gln1398His)
c.4014G>C (p.Gln1338His)
c.3951G>C (p.Gln1317His)
c.3795G>C (p.Gln1265His)
c.3726G>C (p.Gln1242His)
6g.33164429C>TCA449867055COL11A2n.714G>A
c.4908G>A (p.Gln1636=)
c.4587G>A (p.Gln1529=)
c.4650G>A (p.Gln1550=)
n.698G>A
c.4062G>A (p.Gln1354=)
c.4194G>A (p.Gln1398=)
c.4014G>A (p.Gln1338=)
c.3951G>A (p.Gln1317=)
c.3795G>A (p.Gln1265=)
c.3726G>A (p.Gln1242=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33164430T>ACA363616493COL11A2n.713A>T
c.4907A>T (p.Gln1636Leu)
c.4586A>T (p.Gln1529Leu)
c.4649A>T (p.Gln1550Leu)
n.697A>T
c.4061A>T (p.Gln1354Leu)
c.4193A>T (p.Gln1398Leu)
c.4013A>T (p.Gln1338Leu)
c.3950A>T (p.Gln1317Leu)
c.3794A>T (p.Gln1265Leu)
c.3725A>T (p.Gln1242Leu)
6g.33164430T>CCA363616490COL11A2n.713A>G
c.4907A>G (p.Gln1636Arg)
c.4586A>G (p.Gln1529Arg)
c.4649A>G (p.Gln1550Arg)
n.697A>G
c.4061A>G (p.Gln1354Arg)
c.4193A>G (p.Gln1398Arg)
c.4013A>G (p.Gln1338Arg)
c.3950A>G (p.Gln1317Arg)
c.3794A>G (p.Gln1265Arg)
c.3725A>G (p.Gln1242Arg)
 dbSNP
6g.33164430T>GCA363616488COL11A2n.713A>C
c.4907A>C (p.Gln1636Pro)
c.4586A>C (p.Gln1529Pro)
c.4649A>C (p.Gln1550Pro)
n.697A>C
c.4061A>C (p.Gln1354Pro)
c.4193A>C (p.Gln1398Pro)
c.4013A>C (p.Gln1338Pro)
c.3950A>C (p.Gln1317Pro)
c.3794A>C (p.Gln1265Pro)
c.3725A>C (p.Gln1242Pro)
6g.33164430T=CA1619889831COL11A2n.713A=
c.4907A= (p.Gln1636=)
c.4586A= (p.Gln1529=)
c.4649A= (p.Gln1550=)
n.697A=
c.4061A= (p.Gln1354=)
c.4193A= (p.Gln1398=)
c.4013A= (p.Gln1338=)
c.3950A= (p.Gln1317=)
c.3794A= (p.Gln1265=)
c.3725A= (p.Gln1242=)
6g.33164431G>ACA363616497COL11A2n.712C>T
c.4906C>T (p.Gln1636Ter)
c.4585C>T (p.Gln1529Ter)
c.4648C>T (p.Gln1550Ter)
n.696C>T
c.4060C>T (p.Gln1354Ter)
c.4192C>T (p.Gln1398Ter)
c.4012C>T (p.Gln1338Ter)
c.3949C>T (p.Gln1317Ter)
c.3793C>T (p.Gln1265Ter)
c.3724C>T (p.Gln1242Ter)
 dbSNP gnomAD v2 gnomAD v4
6g.33164431G>CCA363616495COL11A2n.712C>G
c.4906C>G (p.Gln1636Glu)
c.4585C>G (p.Gln1529Glu)
c.4648C>G (p.Gln1550Glu)
n.696C>G
c.4060C>G (p.Gln1354Glu)
c.4192C>G (p.Gln1398Glu)
c.4012C>G (p.Gln1338Glu)
c.3949C>G (p.Gln1317Glu)
c.3793C>G (p.Gln1265Glu)
c.3724C>G (p.Gln1242Glu)
6g.33164431G=CA1619889833COL11A2n.712C=
c.4906C= (p.Gln1636=)
c.4585C= (p.Gln1529=)
c.4648C= (p.Gln1550=)
n.696C=
c.4060C= (p.Gln1354=)
c.4192C= (p.Gln1398=)
c.4012C= (p.Gln1338=)
c.3949C= (p.Gln1317=)
c.3793C= (p.Gln1265=)
c.3724C= (p.Gln1242=)
6g.33164431G>TCA363616500COL11A2n.712C>A
c.4906C>A (p.Gln1636Lys)
c.4585C>A (p.Gln1529Lys)
c.4648C>A (p.Gln1550Lys)
n.696C>A
c.4060C>A (p.Gln1354Lys)
c.4192C>A (p.Gln1398Lys)
c.4012C>A (p.Gln1338Lys)
c.3949C>A (p.Gln1317Lys)
c.3793C>A (p.Gln1265Lys)
c.3724C>A (p.Gln1242Lys)
 gnomAD v4
6g.33164432G>ACA449867056COL11A2n.711C>T
c.4905C>T (p.Val1635=)
c.4584C>T (p.Val1528=)
c.4647C>T (p.Val1549=)
n.695C>T
c.4059C>T (p.Val1353=)
c.4191C>T (p.Val1397=)
c.4011C>T (p.Val1337=)
c.3948C>T (p.Val1316=)
c.3792C>T (p.Val1264=)
c.3723C>T (p.Val1241=)
 gnomAD v4
6g.33164432G>CCA449867057COL11A2n.711C>G
c.4905C>G (p.Val1635=)
c.4584C>G (p.Val1528=)
c.4647C>G (p.Val1549=)
n.695C>G
c.4059C>G (p.Val1353=)
c.4191C>G (p.Val1397=)
c.4011C>G (p.Val1337=)
c.3948C>G (p.Val1316=)
c.3792C>G (p.Val1264=)
c.3723C>G (p.Val1241=)
6g.33164432G>TCA449867058COL11A2n.711C>A
c.4905C>A (p.Val1635=)
c.4584C>A (p.Val1528=)
c.4647C>A (p.Val1549=)
n.695C>A
c.4059C>A (p.Val1353=)
c.4191C>A (p.Val1397=)
c.4011C>A (p.Val1337=)
c.3948C>A (p.Val1316=)
c.3792C>A (p.Val1264=)
c.3723C>A (p.Val1241=)
 gnomAD v4
6g.33164433A=CA1619889834COL11A2n.710T=
c.4904T= (p.Val1635=)
c.4583T= (p.Val1528=)
c.4646T= (p.Val1549=)
n.694T=
c.4058T= (p.Val1353=)
c.4190T= (p.Val1397=)
c.4010T= (p.Val1337=)
c.3947T= (p.Val1316=)
c.3791T= (p.Val1264=)
c.3722T= (p.Val1241=)
6g.33164433A>CCA363616502COL11A2n.710T>G
c.4904T>G (p.Val1635Gly)
c.4583T>G (p.Val1528Gly)
c.4646T>G (p.Val1549Gly)
n.694T>G
c.4058T>G (p.Val1353Gly)
c.4190T>G (p.Val1397Gly)
c.4010T>G (p.Val1337Gly)
c.3947T>G (p.Val1316Gly)
c.3791T>G (p.Val1264Gly)
c.3722T>G (p.Val1241Gly)
6g.33164433A>GCA363616504COL11A2n.710T>C
c.4904T>C (p.Val1635Ala)
c.4583T>C (p.Val1528Ala)
c.4646T>C (p.Val1549Ala)
n.694T>C
c.4058T>C (p.Val1353Ala)
c.4190T>C (p.Val1397Ala)
c.4010T>C (p.Val1337Ala)
c.3947T>C (p.Val1316Ala)
c.3791T>C (p.Val1264Ala)
c.3722T>C (p.Val1241Ala)
 dbSNP
6g.33164433A>TCA363616505COL11A2n.710T>A
c.4904T>A (p.Val1635Asp)
c.4583T>A (p.Val1528Asp)
c.4646T>A (p.Val1549Asp)
n.694T>A
c.4058T>A (p.Val1353Asp)
c.4190T>A (p.Val1397Asp)
c.4010T>A (p.Val1337Asp)
c.3947T>A (p.Val1316Asp)
c.3791T>A (p.Val1264Asp)
c.3722T>A (p.Val1241Asp)
 gnomAD v4
6g.33164434C>ACA363616508COL11A2n.709G>T
c.4903G>T (p.Val1635Phe)
c.4582G>T (p.Val1528Phe)
c.4645G>T (p.Val1549Phe)
n.693G>T
c.4057G>T (p.Val1353Phe)
c.4189G>T (p.Val1397Phe)
c.4009G>T (p.Val1337Phe)
c.3946G>T (p.Val1316Phe)
c.3790G>T (p.Val1264Phe)
c.3721G>T (p.Val1241Phe)
 gnomAD v4
6g.33164434C=CA1619889836COL11A2n.709G=
c.4903G= (p.Val1635=)
c.4582G= (p.Val1528=)
c.4645G= (p.Val1549=)
n.693G=
c.4057G= (p.Val1353=)
c.4189G= (p.Val1397=)
c.4009G= (p.Val1337=)
c.3946G= (p.Val1316=)
c.3790G= (p.Val1264=)
c.3721G= (p.Val1241=)
6g.33164434C>GCA363616511COL11A2n.709G>C
c.4903G>C (p.Val1635Leu)
c.4582G>C (p.Val1528Leu)
c.4645G>C (p.Val1549Leu)
n.693G>C
c.4057G>C (p.Val1353Leu)
c.4189G>C (p.Val1397Leu)
c.4009G>C (p.Val1337Leu)
c.3946G>C (p.Val1316Leu)
c.3790G>C (p.Val1264Leu)
c.3721G>C (p.Val1241Leu)
 gnomAD v4
6g.33164434C>TCA363616514COL11A2n.709G>A
c.4903G>A (p.Val1635Ile)
c.4582G>A (p.Val1528Ile)
c.4645G>A (p.Val1549Ile)
n.693G>A
c.4057G>A (p.Val1353Ile)
c.4189G>A (p.Val1397Ile)
c.4009G>A (p.Val1337Ile)
c.3946G>A (p.Val1316Ile)
c.3790G>A (p.Val1264Ile)
c.3721G>A (p.Val1241Ile)
 dbSNP gnomAD v2
6g.33164435delCA2678226373COL11A2n.709del
c.4903del (p.Val1635SerfsTer30)
c.4582del (p.Val1528SerfsTer30)
c.4645del (p.Val1549SerfsTer30)
n.693del
c.4057del (p.Val1353SerfsTer30)
c.4189del (p.Val1397SerfsTer30)
c.4009del (p.Val1337SerfsTer30)
c.3946del (p.Val1316SerfsTer30)
c.3790del (p.Val1264SerfsTer30)
c.3721del (p.Val1241SerfsTer30)
 gnomAD v4
6g.33164435C>ACA449867059COL11A2n.708G>T
c.4902G>T (p.Val1634=)
c.4581G>T (p.Val1527=)
c.4644G>T (p.Val1548=)
n.692G>T
c.4056G>T (p.Val1352=)
c.4188G>T (p.Val1396=)
c.4008G>T (p.Val1336=)
c.3945G>T (p.Val1315=)
c.3789G>T (p.Val1263=)
c.3720G>T (p.Val1240=)
 gnomAD v4
6g.33164435C>GCA449867060COL11A2n.708G>C
c.4902G>C (p.Val1634=)
c.4581G>C (p.Val1527=)
c.4644G>C (p.Val1548=)
n.692G>C
c.4056G>C (p.Val1352=)
c.4188G>C (p.Val1396=)
c.4008G>C (p.Val1336=)
c.3945G>C (p.Val1315=)
c.3789G>C (p.Val1263=)
c.3720G>C (p.Val1240=)
6g.33164435C>TCA449867061COL11A2n.708G>A
c.4902G>A (p.Val1634=)
c.4581G>A (p.Val1527=)
c.4644G>A (p.Val1548=)
n.692G>A
c.4056G>A (p.Val1352=)
c.4188G>A (p.Val1396=)
c.4008G>A (p.Val1336=)
c.3945G>A (p.Val1315=)
c.3789G>A (p.Val1263=)
c.3720G>A (p.Val1240=)
 ClinVar
6g.33164436A=CA1619889838COL11A2n.707T=
c.4901T= (p.Val1634=)
c.4580T= (p.Val1527=)
c.4643T= (p.Val1548=)
n.691T=
c.4055T= (p.Val1352=)
c.4187T= (p.Val1396=)
c.4007T= (p.Val1336=)
c.3944T= (p.Val1315=)
c.3788T= (p.Val1263=)
c.3719T= (p.Val1240=)
6g.33164436A>CCA363616515COL11A2n.707T>G
c.4901T>G (p.Val1634Gly)
c.4580T>G (p.Val1527Gly)
c.4643T>G (p.Val1548Gly)
n.691T>G
c.4055T>G (p.Val1352Gly)
c.4187T>G (p.Val1396Gly)
c.4007T>G (p.Val1336Gly)
c.3944T>G (p.Val1315Gly)
c.3788T>G (p.Val1263Gly)
c.3719T>G (p.Val1240Gly)
6g.33164436A>GCA363616517COL11A2n.707T>C
c.4901T>C (p.Val1634Ala)
c.4580T>C (p.Val1527Ala)
c.4643T>C (p.Val1548Ala)
n.691T>C
c.4055T>C (p.Val1352Ala)
c.4187T>C (p.Val1396Ala)
c.4007T>C (p.Val1336Ala)
c.3944T>C (p.Val1315Ala)
c.3788T>C (p.Val1263Ala)
c.3719T>C (p.Val1240Ala)
 dbSNP gnomAD v2 gnomAD v4
6g.33164436A>TCA363616518COL11A2n.707T>A
c.4901T>A (p.Val1634Glu)
c.4580T>A (p.Val1527Glu)
c.4643T>A (p.Val1548Glu)
n.691T>A
c.4055T>A (p.Val1352Glu)
c.4187T>A (p.Val1396Glu)
c.4007T>A (p.Val1336Glu)
c.3944T>A (p.Val1315Glu)
c.3788T>A (p.Val1263Glu)
c.3719T>A (p.Val1240Glu)
6g.33164437C>ACA363616520COL11A2n.706G>T
c.4900G>T (p.Val1634Leu)
c.4579G>T (p.Val1527Leu)
c.4642G>T (p.Val1548Leu)
n.690G>T
c.4054G>T (p.Val1352Leu)
c.4186G>T (p.Val1396Leu)
c.4006G>T (p.Val1336Leu)
c.3943G>T (p.Val1315Leu)
c.3787G>T (p.Val1263Leu)
c.3718G>T (p.Val1240Leu)
 gnomAD v4
6g.33164437C>GCA363616523COL11A2n.706G>C
c.4900G>C (p.Val1634Leu)
c.4579G>C (p.Val1527Leu)
c.4642G>C (p.Val1548Leu)
n.690G>C
c.4054G>C (p.Val1352Leu)
c.4186G>C (p.Val1396Leu)
c.4006G>C (p.Val1336Leu)
c.3943G>C (p.Val1315Leu)
c.3787G>C (p.Val1263Leu)
c.3718G>C (p.Val1240Leu)
6g.33164437C>TCA363616524COL11A2n.706G>A
c.4900G>A (p.Val1634Met)
c.4579G>A (p.Val1527Met)
c.4642G>A (p.Val1548Met)
n.690G>A
c.4054G>A (p.Val1352Met)
c.4186G>A (p.Val1396Met)
c.4006G>A (p.Val1336Met)
c.3943G>A (p.Val1315Met)
c.3787G>A (p.Val1263Met)
c.3718G>A (p.Val1240Met)
 gnomAD v4

Number of alleles fetched