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.188995061C>ACA430309649COL3A1c.1372C>A (p.Arg458=)
c.1471C>A (p.Arg491=)
2g.188995061C=CA1315398824COL3A1c.1372C= (p.Arg458=)
c.1471C= (p.Arg491=)
2g.188995061C>GCA349851999COL3A1c.1372C>G (p.Arg458Gly)
c.1471C>G (p.Arg491Gly)
 COSMIC COSMIC
2g.188995061C>TCA16042424COL3A1c.1372C>T (p.Arg458Ter)
c.1471C>T (p.Arg491Ter)
 ClinVar dbSNP gnomAD v4
2g.188995062G>ACA004311COL3A1c.1373G>A (p.Arg458Gln)
c.1472G>A (p.Arg491Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188995062G>CCA349852000COL3A1c.1373G>C (p.Arg458Pro)
c.1472G>C (p.Arg491Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188995062G=CA1315398825COL3A1c.1373G= (p.Arg458=)
c.1472G= (p.Arg491=)
2g.188995062G>TCA349852001COL3A1c.1373G>T (p.Arg458Leu)
c.1472G>T (p.Arg491Leu)
2g.188995063A=CA1315398826COL3A1c.1374A= (p.Arg458=)
c.1473A= (p.Arg491=)
2g.188995063A>CCA074364COL3A1c.1374A>C (p.Arg458=)
c.1473A>C (p.Arg491=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188995063A>GCA430309650COL3A1c.1374A>G (p.Arg458=)
c.1473A>G (p.Arg491=)
2g.188995063A>TCA430309651COL3A1c.1374A>T (p.Arg458=)
c.1473A>T (p.Arg491=)
2g.188995064G>ACA349852002COL3A1c.1375G>A (p.Gly459Arg)
c.1474G>A (p.Gly492Arg)
2g.188995064G>CCA349852004COL3A1c.1375G>C (p.Gly459Arg)
c.1474G>C (p.Gly492Arg)
2g.188995064G>TCA349852003COL3A1c.1375G>T (p.Gly459Ter)
c.1474G>T (p.Gly492Ter)
2g.188995065G>ACA004319COL3A1c.1376G>A (p.Gly459Glu)
c.1475G>A (p.Gly492Glu)
 ClinVar dbSNP
2g.188995065G>CCA349852005COL3A1c.1376G>C (p.Gly459Ala)
c.1475G>C (p.Gly492Ala)
2g.188995065G=CA1315398827COL3A1c.1376G= (p.Gly459=)
c.1475G= (p.Gly492=)
2g.188995065G>TCA004326COL3A1c.1376G>T (p.Gly459Val)
c.1475G>T (p.Gly492Val)
 ClinVar dbSNP
2g.188995066A=CA1315398828COL3A1c.1377A= (p.Gly459=)
c.1476A= (p.Gly492=)
2g.188995066A>CCA074368COL3A1c.1377A>C (p.Gly459=)
c.1476A>C (p.Gly492=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188995066A>GCA430309653COL3A1c.1377A>G (p.Gly459=)
c.1476A>G (p.Gly492=)
2g.188995066A>TCA430309652COL3A1c.1377A>T (p.Gly459=)
c.1476A>T (p.Gly492=)
2g.188995066dupCA2701313198COL3A1c.1377dup (p.Pro460ThrfsTer?)
c.1476dup (p.Pro493ThrfsTer?)
 dbSNP
2g.188995067C>ACA349852006COL3A1c.1378C>A (p.Pro460Thr)
c.1477C>A (p.Pro493Thr)
2g.188995067C>GCA349852008COL3A1c.1378C>G (p.Pro460Ala)
c.1477C>G (p.Pro493Ala)
2g.188995067C>TCA349852007COL3A1c.1378C>T (p.Pro460Ser)
c.1477C>T (p.Pro493Ser)
2g.188995068C>ACA349852009COL3A1c.1379C>A (p.Pro460His)
c.1478C>A (p.Pro493His)
2g.188995068C>GCA349852010COL3A1c.1379C>G (p.Pro460Arg)
c.1478C>G (p.Pro493Arg)
2g.188995068C>TCA349852011COL3A1c.1379C>T (p.Pro460Leu)
c.1478C>T (p.Pro493Leu)
2g.188995069T>ACA430309656COL3A1c.1380T>A (p.Pro460=)
c.1479T>A (p.Pro493=)
2g.188995069T>CCA430309655COL3A1c.1380T>C (p.Pro460=)
c.1479T>C (p.Pro493=)
2g.188995069T>GCA430309654COL3A1c.1380T>G (p.Pro460=)
c.1479T>G (p.Pro493=)
2g.188995070G>ACA62596421COL3A1c.1381G>A (p.Ala461Thr)
c.1480G>A (p.Ala494Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188995070G>CCA349852012COL3A1c.1381G>C (p.Ala461Pro)
c.1480G>C (p.Ala494Pro)
2g.188995070G=CA1315398829COL3A1c.1381G= (p.Ala461=)
c.1480G= (p.Ala494=)
2g.188995070G>TCA349852013COL3A1c.1381G>T (p.Ala461Ser)
c.1480G>T (p.Ala494Ser)
 ClinVar dbSNP
2g.188995071C>ACA349852014COL3A1c.1382C>A (p.Ala461Asp)
c.1481C>A (p.Ala494Asp)
2g.188995071C>GCA349852015COL3A1c.1382C>G (p.Ala461Gly)
c.1481C>G (p.Ala494Gly)
2g.188995071C>TCA349852016COL3A1c.1382C>T (p.Ala461Val)
c.1481C>T (p.Ala494Val)
2g.188995072T>ACA430309657COL3A1c.1383T>A (p.Ala461=)
c.1482T>A (p.Ala494=)
2g.188995072T>CCA430309659COL3A1c.1383T>C (p.Ala461=)
c.1482T>C (p.Ala494=)
2g.188995072T>GCA430309658COL3A1c.1383T>G (p.Ala461=)
c.1482T>G (p.Ala494=)
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)

Number of alleles fetched