Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237366910T>ACA431711147COL6A3c.4659A>T (p.Ala1553=)
c.5277A>T (p.Ala1759=)
c.3456A>T (p.Ala1152=)
c.4677A>T (p.Ala1559=)
c.4056A>T (p.Ala1352=)
c.4776A>T (p.Ala1592=)
c.5274A>T (p.Ala1758=)
c.2871A>T (p.Ala957=)
2g.237366910T>CCA2188706COL6A3c.4659A>G (p.Ala1553=)
c.5277A>G (p.Ala1759=)
c.3456A>G (p.Ala1152=)
c.4677A>G (p.Ala1559=)
c.4056A>G (p.Ala1352=)
c.4776A>G (p.Ala1592=)
c.5274A>G (p.Ala1758=)
c.2871A>G (p.Ala957=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366910T>GCA431711148COL6A3c.4659A>C (p.Ala1553=)
c.5277A>C (p.Ala1759=)
c.3456A>C (p.Ala1152=)
c.4677A>C (p.Ala1559=)
c.4056A>C (p.Ala1352=)
c.4776A>C (p.Ala1592=)
c.5274A>C (p.Ala1758=)
c.2871A>C (p.Ala957=)
2g.237366910T=CA1337620955COL6A3c.4659A= (p.Ala1553=)
c.5277A= (p.Ala1759=)
c.3456A= (p.Ala1152=)
c.4677A= (p.Ala1559=)
c.4056A= (p.Ala1352=)
c.4776A= (p.Ala1592=)
c.5274A= (p.Ala1758=)
c.2871A= (p.Ala957=)
2g.237366911G>ACA351187818COL6A3c.4658C>T (p.Ala1553Val)
c.5276C>T (p.Ala1759Val)
c.3455C>T (p.Ala1152Val)
c.4676C>T (p.Ala1559Val)
c.4055C>T (p.Ala1352Val)
c.4775C>T (p.Ala1592Val)
c.5273C>T (p.Ala1758Val)
c.2870C>T (p.Ala957Val)
 dbSNP gnomAD v3 gnomAD v4
2g.237366911G>CCA2188707COL6A3c.4658C>G (p.Ala1553Gly)
c.5276C>G (p.Ala1759Gly)
c.3455C>G (p.Ala1152Gly)
c.4676C>G (p.Ala1559Gly)
c.4055C>G (p.Ala1352Gly)
c.4775C>G (p.Ala1592Gly)
c.5273C>G (p.Ala1758Gly)
c.2870C>G (p.Ala957Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366911G=CA1337620956COL6A3c.4658C= (p.Ala1553=)
c.5276C= (p.Ala1759=)
c.3455C= (p.Ala1152=)
c.4676C= (p.Ala1559=)
c.4055C= (p.Ala1352=)
c.4775C= (p.Ala1592=)
c.5273C= (p.Ala1758=)
c.2870C= (p.Ala957=)
2g.237366911G>TCA2188708COL6A3c.4658C>A (p.Ala1553Glu)
c.5276C>A (p.Ala1759Glu)
c.3455C>A (p.Ala1152Glu)
c.4676C>A (p.Ala1559Glu)
c.4055C>A (p.Ala1352Glu)
c.4775C>A (p.Ala1592Glu)
c.5273C>A (p.Ala1758Glu)
c.2870C>A (p.Ala957Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237366912C>ACA351187819COL6A3c.4657G>T (p.Ala1553Ser)
c.5275G>T (p.Ala1759Ser)
c.3454G>T (p.Ala1152Ser)
c.4675G>T (p.Ala1559Ser)
c.4054G>T (p.Ala1352Ser)
c.4774G>T (p.Ala1592Ser)
c.5272G>T (p.Ala1758Ser)
c.2869G>T (p.Ala957Ser)
2g.237366912C=CA1337620957COL6A3c.4657G= (p.Ala1553=)
c.5275G= (p.Ala1759=)
c.3454G= (p.Ala1152=)
c.4675G= (p.Ala1559=)
c.4054G= (p.Ala1352=)
c.4774G= (p.Ala1592=)
c.5272G= (p.Ala1758=)
c.2869G= (p.Ala957=)
2g.237366912C>GCA351187820COL6A3c.4657G>C (p.Ala1553Pro)
c.5275G>C (p.Ala1759Pro)
c.3454G>C (p.Ala1152Pro)
c.4675G>C (p.Ala1559Pro)
c.4054G>C (p.Ala1352Pro)
c.4774G>C (p.Ala1592Pro)
c.5272G>C (p.Ala1758Pro)
c.2869G>C (p.Ala957Pro)
2g.237366912C>TCA351187821COL6A3c.4657G>A (p.Ala1553Thr)
c.5275G>A (p.Ala1759Thr)
c.3454G>A (p.Ala1152Thr)
c.4675G>A (p.Ala1559Thr)
c.4054G>A (p.Ala1352Thr)
c.4774G>A (p.Ala1592Thr)
c.5272G>A (p.Ala1758Thr)
c.2869G>A (p.Ala957Thr)
 dbSNP gnomAD v4
2g.237366913A=CA1337620958COL6A3c.4656T= (p.Asp1552=)
c.5274T= (p.Asp1758=)
c.3453T= (p.Asp1151=)
c.4674T= (p.Asp1558=)
c.4053T= (p.Asp1351=)
c.4773T= (p.Asp1591=)
c.5271T= (p.Asp1757=)
c.2868T= (p.Asp956=)
2g.237366913A>CCA67814403COL6A3c.4656T>G (p.Asp1552Glu)
c.5274T>G (p.Asp1758Glu)
c.3453T>G (p.Asp1151Glu)
c.4674T>G (p.Asp1558Glu)
c.4053T>G (p.Asp1351Glu)
c.4773T>G (p.Asp1591Glu)
c.5271T>G (p.Asp1757Glu)
c.2868T>G (p.Asp956Glu)
 dbSNP gnomAD v4
2g.237366913A>GCA431711155COL6A3c.4656T>C (p.Asp1552=)
c.5274T>C (p.Asp1758=)
c.3453T>C (p.Asp1151=)
c.4674T>C (p.Asp1558=)
c.4053T>C (p.Asp1351=)
c.4773T>C (p.Asp1591=)
c.5271T>C (p.Asp1757=)
c.2868T>C (p.Asp956=)
 dbSNP gnomAD v3 gnomAD v4
2g.237366913A>TCA351187822COL6A3c.4656T>A (p.Asp1552Glu)
c.5274T>A (p.Asp1758Glu)
c.3453T>A (p.Asp1151Glu)
c.4674T>A (p.Asp1558Glu)
c.4053T>A (p.Asp1351Glu)
c.4773T>A (p.Asp1591Glu)
c.5271T>A (p.Asp1757Glu)
c.2868T>A (p.Asp956Glu)
 gnomAD v4
2g.237366914T>ACA351187823COL6A3c.4655A>T (p.Asp1552Val)
c.5273A>T (p.Asp1758Val)
c.3452A>T (p.Asp1151Val)
c.4673A>T (p.Asp1558Val)
c.4052A>T (p.Asp1351Val)
c.4772A>T (p.Asp1591Val)
c.5270A>T (p.Asp1757Val)
c.2867A>T (p.Asp956Val)
2g.237366914T>CCA351187824COL6A3c.4655A>G (p.Asp1552Gly)
c.5273A>G (p.Asp1758Gly)
c.3452A>G (p.Asp1151Gly)
c.4673A>G (p.Asp1558Gly)
c.4052A>G (p.Asp1351Gly)
c.4772A>G (p.Asp1591Gly)
c.5270A>G (p.Asp1757Gly)
c.2867A>G (p.Asp956Gly)
2g.237366914T>GCA351187825COL6A3c.4655A>C (p.Asp1552Ala)
c.5273A>C (p.Asp1758Ala)
c.3452A>C (p.Asp1151Ala)
c.4673A>C (p.Asp1558Ala)
c.4052A>C (p.Asp1351Ala)
c.4772A>C (p.Asp1591Ala)
c.5270A>C (p.Asp1757Ala)
c.2867A>C (p.Asp956Ala)
2g.237366915C>ACA351187826COL6A3c.4654G>T (p.Asp1552Tyr)
c.5272G>T (p.Asp1758Tyr)
c.3451G>T (p.Asp1151Tyr)
c.4672G>T (p.Asp1558Tyr)
c.4051G>T (p.Asp1351Tyr)
c.4771G>T (p.Asp1591Tyr)
c.5269G>T (p.Asp1757Tyr)
c.2866G>T (p.Asp956Tyr)
2g.237366915C=CA1337620959COL6A3c.4654G= (p.Asp1552=)
c.5272G= (p.Asp1758=)
c.3451G= (p.Asp1151=)
c.4672G= (p.Asp1558=)
c.4051G= (p.Asp1351=)
c.4771G= (p.Asp1591=)
c.5269G= (p.Asp1757=)
c.2866G= (p.Asp956=)
2g.237366915C>GCA351187827COL6A3c.4654G>C (p.Asp1552His)
c.5272G>C (p.Asp1758His)
c.3451G>C (p.Asp1151His)
c.4672G>C (p.Asp1558His)
c.4051G>C (p.Asp1351His)
c.4771G>C (p.Asp1591His)
c.5269G>C (p.Asp1757His)
c.2866G>C (p.Asp956His)
2g.237366915C>TCA2188709COL6A3c.4654G>A (p.Asp1552Asn)
c.5272G>A (p.Asp1758Asn)
c.3451G>A (p.Asp1151Asn)
c.4672G>A (p.Asp1558Asn)
c.4051G>A (p.Asp1351Asn)
c.4771G>A (p.Asp1591Asn)
c.5269G>A (p.Asp1757Asn)
c.2866G>A (p.Asp956Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366916T>ACA351187828COL6A3c.4653A>T (p.Glu1551Asp)
c.5271A>T (p.Glu1757Asp)
c.3450A>T (p.Glu1150Asp)
c.4671A>T (p.Glu1557Asp)
c.4050A>T (p.Glu1350Asp)
c.4770A>T (p.Glu1590Asp)
c.5268A>T (p.Glu1756Asp)
c.2865A>T (p.Glu955Asp)
2g.237366916T>CCA431710624COL6A3c.4653A>G (p.Glu1551=)
c.5271A>G (p.Glu1757=)
c.3450A>G (p.Glu1150=)
c.4671A>G (p.Glu1557=)
c.4050A>G (p.Glu1350=)
c.4770A>G (p.Glu1590=)
c.5268A>G (p.Glu1756=)
c.2865A>G (p.Glu955=)
2g.237366916T>GCA351187829COL6A3c.4653A>C (p.Glu1551Asp)
c.5271A>C (p.Glu1757Asp)
c.3450A>C (p.Glu1150Asp)
c.4671A>C (p.Glu1557Asp)
c.4050A>C (p.Glu1350Asp)
c.4770A>C (p.Glu1590Asp)
c.5268A>C (p.Glu1756Asp)
c.2865A>C (p.Glu955Asp)
 gnomAD v4
2g.237366917T>ACA351187830COL6A3c.4652A>T (p.Glu1551Val)
c.5270A>T (p.Glu1757Val)
c.3449A>T (p.Glu1150Val)
c.4670A>T (p.Glu1557Val)
c.4049A>T (p.Glu1350Val)
c.4769A>T (p.Glu1590Val)
c.5267A>T (p.Glu1756Val)
c.2864A>T (p.Glu955Val)
2g.237366917T>CCA351187831COL6A3c.4652A>G (p.Glu1551Gly)
c.5270A>G (p.Glu1757Gly)
c.3449A>G (p.Glu1150Gly)
c.4670A>G (p.Glu1557Gly)
c.4049A>G (p.Glu1350Gly)
c.4769A>G (p.Glu1590Gly)
c.5267A>G (p.Glu1756Gly)
c.2864A>G (p.Glu955Gly)
 gnomAD v4
2g.237366917T>GCA351187832COL6A3c.4652A>C (p.Glu1551Ala)
c.5270A>C (p.Glu1757Ala)
c.3449A>C (p.Glu1150Ala)
c.4670A>C (p.Glu1557Ala)
c.4049A>C (p.Glu1350Ala)
c.4769A>C (p.Glu1590Ala)
c.5267A>C (p.Glu1756Ala)
c.2864A>C (p.Glu955Ala)
2g.237366918C>ACA351187835COL6A3c.4651G>T (p.Glu1551Ter)
c.5269G>T (p.Glu1757Ter)
c.3448G>T (p.Glu1150Ter)
c.4669G>T (p.Glu1557Ter)
c.4048G>T (p.Glu1350Ter)
c.4768G>T (p.Glu1590Ter)
c.5266G>T (p.Glu1756Ter)
c.2863G>T (p.Glu955Ter)
2g.237366918C=CA1337620960COL6A3c.4651G= (p.Glu1551=)
c.5269G= (p.Glu1757=)
c.3448G= (p.Glu1150=)
c.4669G= (p.Glu1557=)
c.4048G= (p.Glu1350=)
c.4768G= (p.Glu1590=)
c.5266G= (p.Glu1756=)
c.2863G= (p.Glu955=)
2g.237366918C>GCA351187834COL6A3c.4651G>C (p.Glu1551Gln)
c.5269G>C (p.Glu1757Gln)
c.3448G>C (p.Glu1150Gln)
c.4669G>C (p.Glu1557Gln)
c.4048G>C (p.Glu1350Gln)
c.4768G>C (p.Glu1590Gln)
c.5266G>C (p.Glu1756Gln)
c.2863G>C (p.Glu955Gln)
 ClinVar
2g.237366918C>TCA351187833COL6A3c.4651G>A (p.Glu1551Lys)
c.5269G>A (p.Glu1757Lys)
c.3448G>A (p.Glu1150Lys)
c.4669G>A (p.Glu1557Lys)
c.4048G>A (p.Glu1350Lys)
c.4768G>A (p.Glu1590Lys)
c.5266G>A (p.Glu1756Lys)
c.2863G>A (p.Glu955Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.237366919C>ACA431710625COL6A3c.4650G>T (p.Val1550=)
c.5268G>T (p.Val1756=)
c.3447G>T (p.Val1149=)
c.4668G>T (p.Val1556=)
c.4047G>T (p.Val1349=)
c.4767G>T (p.Val1589=)
c.5265G>T (p.Val1755=)
c.2862G>T (p.Val954=)
 gnomAD v4
2g.237366919C>GCA431710626COL6A3c.4650G>C (p.Val1550=)
c.5268G>C (p.Val1756=)
c.3447G>C (p.Val1149=)
c.4668G>C (p.Val1556=)
c.4047G>C (p.Val1349=)
c.4767G>C (p.Val1589=)
c.5265G>C (p.Val1755=)
c.2862G>C (p.Val954=)
2g.237366919C>TCA431710627COL6A3c.4650G>A (p.Val1550=)
c.5268G>A (p.Val1756=)
c.3447G>A (p.Val1149=)
c.4668G>A (p.Val1556=)
c.4047G>A (p.Val1349=)
c.4767G>A (p.Val1589=)
c.5265G>A (p.Val1755=)
c.2862G>A (p.Val954=)
2g.237366920A>CCA351187836COL6A3c.4649T>G (p.Val1550Gly)
c.5267T>G (p.Val1756Gly)
c.3446T>G (p.Val1149Gly)
c.4667T>G (p.Val1556Gly)
c.4046T>G (p.Val1349Gly)
c.4766T>G (p.Val1589Gly)
c.5264T>G (p.Val1755Gly)
c.2861T>G (p.Val954Gly)
2g.237366920A>GCA351187837COL6A3c.4649T>C (p.Val1550Ala)
c.5267T>C (p.Val1756Ala)
c.3446T>C (p.Val1149Ala)
c.4667T>C (p.Val1556Ala)
c.4046T>C (p.Val1349Ala)
c.4766T>C (p.Val1589Ala)
c.5264T>C (p.Val1755Ala)
c.2861T>C (p.Val954Ala)
2g.237366920A>TCA351187838COL6A3c.4649T>A (p.Val1550Glu)
c.5267T>A (p.Val1756Glu)
c.3446T>A (p.Val1149Glu)
c.4667T>A (p.Val1556Glu)
c.4046T>A (p.Val1349Glu)
c.4766T>A (p.Val1589Glu)
c.5264T>A (p.Val1755Glu)
c.2861T>A (p.Val954Glu)
2g.237366921C>ACA351187839COL6A3c.4648G>T (p.Val1550Leu)
c.5266G>T (p.Val1756Leu)
c.3445G>T (p.Val1149Leu)
c.4666G>T (p.Val1556Leu)
c.4045G>T (p.Val1349Leu)
c.4765G>T (p.Val1589Leu)
c.5263G>T (p.Val1755Leu)
c.2860G>T (p.Val954Leu)
 gnomAD v4
2g.237366921C=CA1337620961COL6A3c.4648G= (p.Val1550=)
c.5266G= (p.Val1756=)
c.3445G= (p.Val1149=)
c.4666G= (p.Val1556=)
c.4045G= (p.Val1349=)
c.4765G= (p.Val1589=)
c.5263G= (p.Val1755=)
c.2860G= (p.Val954=)
2g.237366921C>GCA351187840COL6A3c.4648G>C (p.Val1550Leu)
c.5266G>C (p.Val1756Leu)
c.3445G>C (p.Val1149Leu)
c.4666G>C (p.Val1556Leu)
c.4045G>C (p.Val1349Leu)
c.4765G>C (p.Val1589Leu)
c.5263G>C (p.Val1755Leu)
c.2860G>C (p.Val954Leu)
2g.237366921C>TCA67814409COL6A3c.4648G>A (p.Val1550Met)
c.5266G>A (p.Val1756Met)
c.3445G>A (p.Val1149Met)
c.4666G>A (p.Val1556Met)
c.4045G>A (p.Val1349Met)
c.4765G>A (p.Val1589Met)
c.5263G>A (p.Val1755Met)
c.2860G>A (p.Val954Met)
 dbSNP
2g.237366922C>ACA431710628COL6A3c.4647G>T (p.Ser1549=)
c.5265G>T (p.Ser1755=)
c.3444G>T (p.Ser1148=)
c.4665G>T (p.Ser1555=)
c.4044G>T (p.Ser1348=)
c.4764G>T (p.Ser1588=)
c.5262G>T (p.Ser1754=)
c.2859G>T (p.Ser953=)
 dbSNP gnomAD v4
2g.237366922C=CA1337620962COL6A3c.4647G= (p.Ser1549=)
c.5265G= (p.Ser1755=)
c.3444G= (p.Ser1148=)
c.4665G= (p.Ser1555=)
c.4044G= (p.Ser1348=)
c.4764G= (p.Ser1588=)
c.5262G= (p.Ser1754=)
c.2859G= (p.Ser953=)
2g.237366922C>GCA431710629COL6A3c.4647G>C (p.Ser1549=)
c.5265G>C (p.Ser1755=)
c.3444G>C (p.Ser1148=)
c.4665G>C (p.Ser1555=)
c.4044G>C (p.Ser1348=)
c.4764G>C (p.Ser1588=)
c.5262G>C (p.Ser1754=)
c.2859G>C (p.Ser953=)
2g.237366922C>TCA2188710COL6A3c.4647G>A (p.Ser1549=)
c.5265G>A (p.Ser1755=)
c.3444G>A (p.Ser1148=)
c.4665G>A (p.Ser1555=)
c.4044G>A (p.Ser1348=)
c.4764G>A (p.Ser1588=)
c.5262G>A (p.Ser1754=)
c.2859G>A (p.Ser953=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.237366923G>ACA2188711COL6A3c.4646C>T (p.Ser1549Leu)
c.5264C>T (p.Ser1755Leu)
c.3443C>T (p.Ser1148Leu)
c.4664C>T (p.Ser1555Leu)
c.4043C>T (p.Ser1348Leu)
c.4763C>T (p.Ser1588Leu)
c.5261C>T (p.Ser1754Leu)
c.2858C>T (p.Ser953Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.237366923G>CCA351187841COL6A3c.4646C>G (p.Ser1549Trp)
c.5264C>G (p.Ser1755Trp)
c.3443C>G (p.Ser1148Trp)
c.4664C>G (p.Ser1555Trp)
c.4043C>G (p.Ser1348Trp)
c.4763C>G (p.Ser1588Trp)
c.5261C>G (p.Ser1754Trp)
c.2858C>G (p.Ser953Trp)
2g.237366923G=CA1337620963COL6A3c.4646C= (p.Ser1549=)
c.5264C= (p.Ser1755=)
c.3443C= (p.Ser1148=)
c.4664C= (p.Ser1555=)
c.4043C= (p.Ser1348=)
c.4763C= (p.Ser1588=)
c.5261C= (p.Ser1754=)
c.2858C= (p.Ser953=)

Number of alleles fetched