Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.237367010A=CA1337621000COL6A3c.4559T= (p.Leu1520=)
c.5177T= (p.Leu1726=)
c.3356T= (p.Leu1119=)
c.4577T= (p.Leu1526=)
c.3956T= (p.Leu1319=)
c.4676T= (p.Leu1559=)
c.5174T= (p.Leu1725=)
c.2771T= (p.Leu924=)
2g.237367010A>CCA257718COL6A3c.4559T>G (p.Leu1520Arg)
c.5177T>G (p.Leu1726Arg)
c.3356T>G (p.Leu1119Arg)
c.4577T>G (p.Leu1526Arg)
c.3956T>G (p.Leu1319Arg)
c.4676T>G (p.Leu1559Arg)
c.5174T>G (p.Leu1725Arg)
c.2771T>G (p.Leu924Arg)
 ClinVar dbSNP
2g.237367010A>GCA351188195COL6A3c.4559T>C (p.Leu1520Pro)
c.5177T>C (p.Leu1726Pro)
c.3356T>C (p.Leu1119Pro)
c.4577T>C (p.Leu1526Pro)
c.3956T>C (p.Leu1319Pro)
c.4676T>C (p.Leu1559Pro)
c.5174T>C (p.Leu1725Pro)
c.2771T>C (p.Leu924Pro)
2g.237367010A>TCA351188199COL6A3c.4559T>A (p.Leu1520Gln)
c.5177T>A (p.Leu1726Gln)
c.3356T>A (p.Leu1119Gln)
c.4577T>A (p.Leu1526Gln)
c.3956T>A (p.Leu1319Gln)
c.4676T>A (p.Leu1559Gln)
c.5174T>A (p.Leu1725Gln)
c.2771T>A (p.Leu924Gln)
2g.237367013_237367021delCA2586965623COL6A3c.4551_4559del (p.Glu1518_Leu1520del)
c.5169_5177del (p.Glu1724_Leu1726del)
c.3348_3356del (p.Glu1117_Leu1119del)
c.4569_4577del (p.Glu1524_Leu1526del)
c.3948_3956del (p.Glu1317_Leu1319del)
c.4668_4676del (p.Glu1557_Leu1559del)
c.5166_5174del (p.Glu1723_Leu1725del)
c.2763_2771del (p.Glu922_Leu924del)
2g.237367011G>ACA431710779COL6A3c.4558C>T (p.Leu1520=)
c.5176C>T (p.Leu1726=)
c.3355C>T (p.Leu1119=)
c.4576C>T (p.Leu1526=)
c.3955C>T (p.Leu1319=)
c.4675C>T (p.Leu1559=)
c.5173C>T (p.Leu1725=)
c.2770C>T (p.Leu924=)
2g.237367011G>CCA351188201COL6A3c.4558C>G (p.Leu1520Val)
c.5176C>G (p.Leu1726Val)
c.3355C>G (p.Leu1119Val)
c.4576C>G (p.Leu1526Val)
c.3955C>G (p.Leu1319Val)
c.4675C>G (p.Leu1559Val)
c.5173C>G (p.Leu1725Val)
c.2770C>G (p.Leu924Val)
2g.237367011G>TCA351188204COL6A3c.4558C>A (p.Leu1520Met)
c.5176C>A (p.Leu1726Met)
c.3355C>A (p.Leu1119Met)
c.4576C>A (p.Leu1526Met)
c.3955C>A (p.Leu1319Met)
c.4675C>A (p.Leu1559Met)
c.5173C>A (p.Leu1725Met)
c.2770C>A (p.Leu924Met)
 ClinVar dbSNP
2g.237367012G>ACA431710780COL6A3c.4557C>T (p.His1519=)
c.5175C>T (p.His1725=)
c.3354C>T (p.His1118=)
c.4575C>T (p.His1525=)
c.3954C>T (p.His1318=)
c.4674C>T (p.His1558=)
c.5172C>T (p.His1724=)
c.2769C>T (p.His923=)
2g.237367012G>CCA351188205COL6A3c.4557C>G (p.His1519Gln)
c.5175C>G (p.His1725Gln)
c.3354C>G (p.His1118Gln)
c.4575C>G (p.His1525Gln)
c.3954C>G (p.His1318Gln)
c.4674C>G (p.His1558Gln)
c.5172C>G (p.His1724Gln)
c.2769C>G (p.His923Gln)
2g.237367012G>TCA351188206COL6A3c.4557C>A (p.His1519Gln)
c.5175C>A (p.His1725Gln)
c.3354C>A (p.His1118Gln)
c.4575C>A (p.His1525Gln)
c.3954C>A (p.His1318Gln)
c.4674C>A (p.His1558Gln)
c.5172C>A (p.His1724Gln)
c.2769C>A (p.His923Gln)
 gnomAD v4
2g.237367013T>ACA351188208COL6A3c.4556A>T (p.His1519Leu)
c.5174A>T (p.His1725Leu)
c.3353A>T (p.His1118Leu)
c.4574A>T (p.His1525Leu)
c.3953A>T (p.His1318Leu)
c.4673A>T (p.His1558Leu)
c.5171A>T (p.His1724Leu)
c.2768A>T (p.His923Leu)
2g.237367013T>CCA351188209COL6A3c.4556A>G (p.His1519Arg)
c.5174A>G (p.His1725Arg)
c.3353A>G (p.His1118Arg)
c.4574A>G (p.His1525Arg)
c.3953A>G (p.His1318Arg)
c.4673A>G (p.His1558Arg)
c.5171A>G (p.His1724Arg)
c.2768A>G (p.His923Arg)
2g.237367013T>GCA351188212COL6A3c.4556A>C (p.His1519Pro)
c.5174A>C (p.His1725Pro)
c.3353A>C (p.His1118Pro)
c.4574A>C (p.His1525Pro)
c.3953A>C (p.His1318Pro)
c.4673A>C (p.His1558Pro)
c.5171A>C (p.His1724Pro)
c.2768A>C (p.His923Pro)
 ClinVar dbSNP
2g.237367013T=CA1337621001COL6A3c.4556A= (p.His1519=)
c.5174A= (p.His1725=)
c.3353A= (p.His1118=)
c.4574A= (p.His1525=)
c.3953A= (p.His1318=)
c.4673A= (p.His1558=)
c.5171A= (p.His1724=)
c.2768A= (p.His923=)
2g.237367014G>ACA2188725COL6A3c.4555C>T (p.His1519Tyr)
c.5173C>T (p.His1725Tyr)
c.3352C>T (p.His1118Tyr)
c.4573C>T (p.His1525Tyr)
c.3952C>T (p.His1318Tyr)
c.4672C>T (p.His1558Tyr)
c.5170C>T (p.His1724Tyr)
c.2767C>T (p.His923Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.237367014G>CCA351188215COL6A3c.4555C>G (p.His1519Asp)
c.5173C>G (p.His1725Asp)
c.3352C>G (p.His1118Asp)
c.4573C>G (p.His1525Asp)
c.3952C>G (p.His1318Asp)
c.4672C>G (p.His1558Asp)
c.5170C>G (p.His1724Asp)
c.2767C>G (p.His923Asp)
2g.237367014G=CA1337621002COL6A3c.4555C= (p.His1519=)
c.5173C= (p.His1725=)
c.3352C= (p.His1118=)
c.4573C= (p.His1525=)
c.3952C= (p.His1318=)
c.4672C= (p.His1558=)
c.5170C= (p.His1724=)
c.2767C= (p.His923=)
2g.237367014G>TCA351188216COL6A3c.4555C>A (p.His1519Asn)
c.5173C>A (p.His1725Asn)
c.3352C>A (p.His1118Asn)
c.4573C>A (p.His1525Asn)
c.3952C>A (p.His1318Asn)
c.4672C>A (p.His1558Asn)
c.5170C>A (p.His1724Asn)
c.2767C>A (p.His923Asn)
2g.237367015C>ACA351188217COL6A3c.4554G>T (p.Glu1518Asp)
c.5172G>T (p.Glu1724Asp)
c.3351G>T (p.Glu1117Asp)
c.4572G>T (p.Glu1524Asp)
c.3951G>T (p.Glu1317Asp)
c.4671G>T (p.Glu1557Asp)
c.5169G>T (p.Glu1723Asp)
c.2766G>T (p.Glu922Asp)
2g.237367015C=CA1337621003COL6A3c.4554G= (p.Glu1518=)
c.5172G= (p.Glu1724=)
c.3351G= (p.Glu1117=)
c.4572G= (p.Glu1524=)
c.3951G= (p.Glu1317=)
c.4671G= (p.Glu1557=)
c.5169G= (p.Glu1723=)
c.2766G= (p.Glu922=)
2g.237367015C>GCA351188218COL6A3c.4554G>C (p.Glu1518Asp)
c.5172G>C (p.Glu1724Asp)
c.3351G>C (p.Glu1117Asp)
c.4572G>C (p.Glu1524Asp)
c.3951G>C (p.Glu1317Asp)
c.4671G>C (p.Glu1557Asp)
c.5169G>C (p.Glu1723Asp)
c.2766G>C (p.Glu922Asp)
2g.237367015C>TCA67814531COL6A3c.4554G>A (p.Glu1518=)
c.5172G>A (p.Glu1724=)
c.3351G>A (p.Glu1117=)
c.4572G>A (p.Glu1524=)
c.3951G>A (p.Glu1317=)
c.4671G>A (p.Glu1557=)
c.5169G>A (p.Glu1723=)
c.2766G>A (p.Glu922=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.237367016T>ACA351188221COL6A3c.4553A>T (p.Glu1518Val)
c.5171A>T (p.Glu1724Val)
c.3350A>T (p.Glu1117Val)
c.4571A>T (p.Glu1524Val)
c.3950A>T (p.Glu1317Val)
c.4670A>T (p.Glu1557Val)
c.5168A>T (p.Glu1723Val)
c.2765A>T (p.Glu922Val)
2g.237367016T>CCA351188223COL6A3c.4553A>G (p.Glu1518Gly)
c.5171A>G (p.Glu1724Gly)
c.3350A>G (p.Glu1117Gly)
c.4571A>G (p.Glu1524Gly)
c.3950A>G (p.Glu1317Gly)
c.4670A>G (p.Glu1557Gly)
c.5168A>G (p.Glu1723Gly)
c.2765A>G (p.Glu922Gly)
2g.237367016T>GCA351188227COL6A3c.4553A>C (p.Glu1518Ala)
c.5171A>C (p.Glu1724Ala)
c.3350A>C (p.Glu1117Ala)
c.4571A>C (p.Glu1524Ala)
c.3950A>C (p.Glu1317Ala)
c.4670A>C (p.Glu1557Ala)
c.5168A>C (p.Glu1723Ala)
c.2765A>C (p.Glu922Ala)
2g.237367017C>ACA351188236COL6A3c.4552G>T (p.Glu1518Ter)
c.5170G>T (p.Glu1724Ter)
c.3349G>T (p.Glu1117Ter)
c.4570G>T (p.Glu1524Ter)
c.3949G>T (p.Glu1317Ter)
c.4669G>T (p.Glu1557Ter)
c.5167G>T (p.Glu1723Ter)
c.2764G>T (p.Glu922Ter)
2g.237367017C=CA1337621004COL6A3c.4552G= (p.Glu1518=)
c.5170G= (p.Glu1724=)
c.3349G= (p.Glu1117=)
c.4570G= (p.Glu1524=)
c.3949G= (p.Glu1317=)
c.4669G= (p.Glu1557=)
c.5167G= (p.Glu1723=)
c.2764G= (p.Glu922=)
2g.237367017C>GCA351188231COL6A3c.4552G>C (p.Glu1518Gln)
c.5170G>C (p.Glu1724Gln)
c.3349G>C (p.Glu1117Gln)
c.4570G>C (p.Glu1524Gln)
c.3949G>C (p.Glu1317Gln)
c.4669G>C (p.Glu1557Gln)
c.5167G>C (p.Glu1723Gln)
c.2764G>C (p.Glu922Gln)
2g.237367017C>TCA222617COL6A3c.4552G>A (p.Glu1518Lys)
c.5170G>A (p.Glu1724Lys)
c.3349G>A (p.Glu1117Lys)
c.4570G>A (p.Glu1524Lys)
c.3949G>A (p.Glu1317Lys)
c.4669G>A (p.Glu1557Lys)
c.5167G>A (p.Glu1723Lys)
c.2764G>A (p.Glu922Lys)
 ClinVar dbSNP gnomAD v4
2g.237367018A>CCA431710792COL6A3c.4551T>G (p.Leu1517=)
c.5169T>G (p.Leu1723=)
c.3348T>G (p.Leu1116=)
c.4569T>G (p.Leu1523=)
c.3948T>G (p.Leu1316=)
c.4668T>G (p.Leu1556=)
c.5166T>G (p.Leu1722=)
c.2763T>G (p.Leu921=)
2g.237367018A>GCA431710793COL6A3c.4551T>C (p.Leu1517=)
c.5169T>C (p.Leu1723=)
c.3348T>C (p.Leu1116=)
c.4569T>C (p.Leu1523=)
c.3948T>C (p.Leu1316=)
c.4668T>C (p.Leu1556=)
c.5166T>C (p.Leu1722=)
c.2763T>C (p.Leu921=)
2g.237367018A>TCA431710794COL6A3c.4551T>A (p.Leu1517=)
c.5169T>A (p.Leu1723=)
c.3348T>A (p.Leu1116=)
c.4569T>A (p.Leu1523=)
c.3948T>A (p.Leu1316=)
c.4668T>A (p.Leu1556=)
c.5166T>A (p.Leu1722=)
c.2763T>A (p.Leu921=)
2g.237367019A>CCA351188239COL6A3c.4550T>G (p.Leu1517Arg)
c.5168T>G (p.Leu1723Arg)
c.3347T>G (p.Leu1116Arg)
c.4568T>G (p.Leu1523Arg)
c.3947T>G (p.Leu1316Arg)
c.4667T>G (p.Leu1556Arg)
c.5165T>G (p.Leu1722Arg)
c.2762T>G (p.Leu921Arg)
 ClinVar
2g.237367019A>GCA351188242COL6A3c.4550T>C (p.Leu1517Pro)
c.5168T>C (p.Leu1723Pro)
c.3347T>C (p.Leu1116Pro)
c.4568T>C (p.Leu1523Pro)
c.3947T>C (p.Leu1316Pro)
c.4667T>C (p.Leu1556Pro)
c.5165T>C (p.Leu1722Pro)
c.2762T>C (p.Leu921Pro)
2g.237367019A>TCA351188246COL6A3c.4550T>A (p.Leu1517His)
c.5168T>A (p.Leu1723His)
c.3347T>A (p.Leu1116His)
c.4568T>A (p.Leu1523His)
c.3947T>A (p.Leu1316His)
c.4667T>A (p.Leu1556His)
c.5165T>A (p.Leu1722His)
c.2762T>A (p.Leu921His)
2g.237367020G>ACA351188251COL6A3c.4549C>T (p.Leu1517Phe)
c.5167C>T (p.Leu1723Phe)
c.3346C>T (p.Leu1116Phe)
c.4567C>T (p.Leu1523Phe)
c.3946C>T (p.Leu1316Phe)
c.4666C>T (p.Leu1556Phe)
c.5164C>T (p.Leu1722Phe)
c.2761C>T (p.Leu921Phe)
 gnomAD v4
2g.237367020G>CCA351188254COL6A3c.4549C>G (p.Leu1517Val)
c.5167C>G (p.Leu1723Val)
c.3346C>G (p.Leu1116Val)
c.4567C>G (p.Leu1523Val)
c.3946C>G (p.Leu1316Val)
c.4666C>G (p.Leu1556Val)
c.5164C>G (p.Leu1722Val)
c.2761C>G (p.Leu921Val)
 gnomAD v4
2g.237367020G>TCA351188257COL6A3c.4549C>A (p.Leu1517Ile)
c.5167C>A (p.Leu1723Ile)
c.3346C>A (p.Leu1116Ile)
c.4567C>A (p.Leu1523Ile)
c.3946C>A (p.Leu1316Ile)
c.4666C>A (p.Leu1556Ile)
c.5164C>A (p.Leu1722Ile)
c.2761C>A (p.Leu921Ile)
 COSMIC
2g.237367021G>ACA431710796COL6A3c.4548C>T (p.Gly1516=)
c.5166C>T (p.Gly1722=)
c.3345C>T (p.Gly1115=)
c.4566C>T (p.Gly1522=)
c.3945C>T (p.Gly1315=)
c.4665C>T (p.Gly1555=)
c.5163C>T (p.Gly1721=)
c.2760C>T (p.Gly920=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.237367021G>CCA431710797COL6A3c.4548C>G (p.Gly1516=)
c.5166C>G (p.Gly1722=)
c.3345C>G (p.Gly1115=)
c.4566C>G (p.Gly1522=)
c.3945C>G (p.Gly1315=)
c.4665C>G (p.Gly1555=)
c.5163C>G (p.Gly1721=)
c.2760C>G (p.Gly920=)
2g.237367021G=CA1337621005COL6A3c.4548C= (p.Gly1516=)
c.5166C= (p.Gly1722=)
c.3345C= (p.Gly1115=)
c.4566C= (p.Gly1522=)
c.3945C= (p.Gly1315=)
c.4665C= (p.Gly1555=)
c.5163C= (p.Gly1721=)
c.2760C= (p.Gly920=)
2g.237367021G>TCA431710798COL6A3c.4548C>A (p.Gly1516=)
c.5166C>A (p.Gly1722=)
c.3345C>A (p.Gly1115=)
c.4566C>A (p.Gly1522=)
c.3945C>A (p.Gly1315=)
c.4665C>A (p.Gly1555=)
c.5163C>A (p.Gly1721=)
c.2760C>A (p.Gly920=)
2g.237367022C>ACA351188261COL6A3c.4547G>T (p.Gly1516Val)
c.5165G>T (p.Gly1722Val)
c.3344G>T (p.Gly1115Val)
c.4565G>T (p.Gly1522Val)
c.3944G>T (p.Gly1315Val)
c.4664G>T (p.Gly1555Val)
c.5162G>T (p.Gly1721Val)
c.2759G>T (p.Gly920Val)
2g.237367022C=CA1337621006COL6A3c.4547G= (p.Gly1516=)
c.5165G= (p.Gly1722=)
c.3344G= (p.Gly1115=)
c.4565G= (p.Gly1522=)
c.3944G= (p.Gly1315=)
c.4664G= (p.Gly1555=)
c.5162G= (p.Gly1721=)
c.2759G= (p.Gly920=)
2g.237367022C>GCA351188263COL6A3c.4547G>C (p.Gly1516Ala)
c.5165G>C (p.Gly1722Ala)
c.3344G>C (p.Gly1115Ala)
c.4565G>C (p.Gly1522Ala)
c.3944G>C (p.Gly1315Ala)
c.4664G>C (p.Gly1555Ala)
c.5162G>C (p.Gly1721Ala)
c.2759G>C (p.Gly920Ala)
2g.237367022C>TCA351188265COL6A3c.4547G>A (p.Gly1516Asp)
c.5165G>A (p.Gly1722Asp)
c.3344G>A (p.Gly1115Asp)
c.4565G>A (p.Gly1522Asp)
c.3944G>A (p.Gly1315Asp)
c.4664G>A (p.Gly1555Asp)
c.5162G>A (p.Gly1721Asp)
c.2759G>A (p.Gly920Asp)
 ClinVar dbSNP
2g.237367023C>ACA351188271COL6A3c.4546G>T (p.Gly1516Cys)
c.5164G>T (p.Gly1722Cys)
c.3343G>T (p.Gly1115Cys)
c.4564G>T (p.Gly1522Cys)
c.3943G>T (p.Gly1315Cys)
c.4663G>T (p.Gly1555Cys)
c.5161G>T (p.Gly1721Cys)
c.2758G>T (p.Gly920Cys)
2g.237367023C>GCA351188273COL6A3c.4546G>C (p.Gly1516Arg)
c.5164G>C (p.Gly1722Arg)
c.3343G>C (p.Gly1115Arg)
c.4564G>C (p.Gly1522Arg)
c.3943G>C (p.Gly1315Arg)
c.4663G>C (p.Gly1555Arg)
c.5161G>C (p.Gly1721Arg)
c.2758G>C (p.Gly920Arg)
2g.237367023C>TCA351188274COL6A3c.4546G>A (p.Gly1516Ser)
c.5164G>A (p.Gly1722Ser)
c.3343G>A (p.Gly1115Ser)
c.4564G>A (p.Gly1522Ser)
c.3943G>A (p.Gly1315Ser)
c.4663G>A (p.Gly1555Ser)
c.5161G>A (p.Gly1721Ser)
c.2758G>A (p.Gly920Ser)

Number of alleles fetched