Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
2g.188994964_188998496delCA285891COL3A1c.1357-82_1879-178del
c.1456-82_1978-178del
 ClinVar
2g.188995032_188995089delinsTTCATTATTTTCAGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCCCA1315398809COL3A1c.1357-14_1400delinsTTCATTATTTTCAGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCC
c.1456-14_1499delinsTTCATTATTTTCAGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCC
2g.188995033_188995089delCA286456COL3A1c.1357-13_1400del
c.1456-13_1499del
 ClinVar dbSNP
2g.188995073G>ACA349852017COL3A1c.1384G>A (p.Gly462Arg)
c.1483G>A (p.Gly495Arg)
2g.188995073G>CCA349852018COL3A1c.1384G>C (p.Gly462Arg)
c.1483G>C (p.Gly495Arg)
2g.188995073G>TCA349852019COL3A1c.1384G>T (p.Gly462Ter)
c.1483G>T (p.Gly495Ter)
2g.188995074G>ACA349852021COL3A1c.1385G>A (p.Gly462Glu)
c.1484G>A (p.Gly495Glu)
 ClinVar dbSNP
2g.188995074G>CCA16603965COL3A1c.1385G>C (p.Gly462Ala)
c.1484G>C (p.Gly495Ala)
 ClinVar dbSNP COSMIC COSMIC
2g.188995074G=CA1315398830COL3A1c.1385G= (p.Gly462=)
c.1484G= (p.Gly495=)
2g.188995074G>TCA349852020COL3A1c.1385G>T (p.Gly462Val)
c.1484G>T (p.Gly495Val)
2g.188995075A>CCA430309660COL3A1c.1386A>C (p.Gly462=)
c.1485A>C (p.Gly495=)
2g.188995075A>GCA430309661COL3A1c.1386A>G (p.Gly462=)
c.1485A>G (p.Gly495=)
 gnomAD v4
2g.188995075A>TCA430309662COL3A1c.1386A>T (p.Gly462=)
c.1485A>T (p.Gly495=)
2g.188995076C>ACA349852022COL3A1c.1387C>A (p.Pro463Thr)
c.1486C>A (p.Pro496Thr)
2g.188995076C>GCA349852023COL3A1c.1387C>G (p.Pro463Ala)
c.1486C>G (p.Pro496Ala)
 gnomAD v4
2g.188995076C>TCA349852024COL3A1c.1387C>T (p.Pro463Ser)
c.1486C>T (p.Pro496Ser)
 ClinVar gnomAD v4
2g.188995077C>ACA349852025COL3A1c.1388C>A (p.Pro463Gln)
c.1487C>A (p.Pro496Gln)
2g.188995077C>GCA349852026COL3A1c.1388C>G (p.Pro463Arg)
c.1487C>G (p.Pro496Arg)
2g.188995077C>TCA349852027COL3A1c.1388C>T (p.Pro463Leu)
c.1487C>T (p.Pro496Leu)
2g.188995078A>CCA430309663COL3A1c.1389A>C (p.Pro463=)
c.1488A>C (p.Pro496=)
2g.188995078A>GCA430309664COL3A1c.1389A>G (p.Pro463=)
c.1488A>G (p.Pro496=)
2g.188995078A>TCA430309665COL3A1c.1389A>T (p.Pro463=)
c.1488A>T (p.Pro496=)
2g.188995079A>CCA349852028COL3A1c.1390A>C (p.Asn464His)
c.1489A>C (p.Asn497His)
2g.188995079A>GCA349852029COL3A1c.1390A>G (p.Asn464Asp)
c.1489A>G (p.Asn497Asp)
 gnomAD v4
2g.188995079A>TCA349852030COL3A1c.1390A>T (p.Asn464Tyr)
c.1489A>T (p.Asn497Tyr)
2g.188995080A>CCA349852031COL3A1c.1391A>C (p.Asn464Thr)
c.1490A>C (p.Asn497Thr)
 gnomAD v4
2g.188995080A>GCA349852032COL3A1c.1391A>G (p.Asn464Ser)
c.1490A>G (p.Asn497Ser)
2g.188995080A>TCA349852033COL3A1c.1391A>T (p.Asn464Ile)
c.1490A>T (p.Asn497Ile)
2g.188995081T>ACA349852035COL3A1c.1392T>A (p.Asn464Lys)
c.1491T>A (p.Asn497Lys)
2g.188995081T>CCA074372COL3A1c.1392T>C (p.Asn464=)
c.1491T>C (p.Asn497=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188995081T>GCA349852034COL3A1c.1392T>G (p.Asn464Lys)
c.1491T>G (p.Asn497Lys)
2g.188995081T=CA1315398831COL3A1c.1392T= (p.Asn464=)
c.1491T= (p.Asn497=)
2g.188995082G>ACA349852036COL3A1c.1393G>A (p.Gly465Ser)
c.1492G>A (p.Gly498Ser)
2g.188995082G>CCA349852037COL3A1c.1393G>C (p.Gly465Arg)
c.1492G>C (p.Gly498Arg)
2g.188995082G>TCA349852038COL3A1c.1393G>T (p.Gly465Cys)
c.1492G>T (p.Gly498Cys)
2g.188995083G>ACA16602222COL3A1c.1394G>A (p.Gly465Asp)
c.1493G>A (p.Gly498Asp)
2g.188995083G>CCA349852039COL3A1c.1394G>C (p.Gly465Ala)
c.1493G>C (p.Gly498Ala)
2g.188995083G>TCA349852040COL3A1c.1394G>T (p.Gly465Val)
c.1493G>T (p.Gly498Val)
2g.188995084C>ACA430309666COL3A1c.1395C>A (p.Gly465=)
c.1494C>A (p.Gly498=)
 ClinVar dbSNP
2g.188995084C=CA1315398832COL3A1c.1395C= (p.Gly465=)
c.1494C= (p.Gly498=)
2g.188995084C>GCA430309667COL3A1c.1395C>G (p.Gly465=)
c.1494C>G (p.Gly498=)
2g.188995084C>TCA430309668COL3A1c.1395C>T (p.Gly465=)
c.1494C>T (p.Gly498=)
 gnomAD v4
2g.188995085A>CCA349852041COL3A1c.1396A>C (p.Ile466Leu)
c.1495A>C (p.Ile499Leu)
2g.188995085A>GCA349852042COL3A1c.1396A>G (p.Ile466Val)
c.1495A>G (p.Ile499Val)
2g.188995085A>TCA349852043COL3A1c.1396A>T (p.Ile466Phe)
c.1495A>T (p.Ile499Phe)
2g.188995086T>ACA349852044COL3A1c.1397T>A (p.Ile466Asn)
c.1496T>A (p.Ile499Asn)
2g.188995086T>CCA62596424COL3A1c.1397T>C (p.Ile466Thr)
c.1496T>C (p.Ile499Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188995086T>GCA349852045COL3A1c.1397T>G (p.Ile466Ser)
c.1496T>G (p.Ile499Ser)
2g.188995086T=CA1315398833COL3A1c.1397T= (p.Ile466=)
c.1496T= (p.Ile499=)

Number of alleles fetched