Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188996402G>ACA349852553COL3A1c.1568G>A (p.Ser523Asn)
c.1667G>A (p.Ser556Asn)
 ClinVar dbSNP
2g.188996402G>CCA349852555COL3A1c.1568G>C (p.Ser523Thr)
c.1667G>C (p.Ser556Thr)
2g.188996402G=CA1315399507COL3A1c.1568G= (p.Ser523=)
c.1667G= (p.Ser556=)
2g.188996402G>TCA349852556COL3A1c.1568G>T (p.Ser523Ile)
c.1667G>T (p.Ser556Ile)
 ClinVar
2g.188996403T>ACA349852558COL3A1c.1569T>A (p.Ser523Arg)
c.1668T>A (p.Ser556Arg)
2g.188996403T>CCA430309807COL3A1c.1569T>C (p.Ser523=)
c.1668T>C (p.Ser556=)
2g.188996403T>GCA349852557COL3A1c.1569T>G (p.Ser523Arg)
c.1668T>G (p.Ser556Arg)
 ClinVar dbSNP gnomAD v4
2g.188996403T=CA1315399508COL3A1c.1569T= (p.Ser523=)
c.1668T= (p.Ser556=)
2g.188996404C>ACA349852559COL3A1c.1570C>A (p.Gln524Lys)
c.1669C>A (p.Gln557Lys)
2g.188996404C>GCA349852560COL3A1c.1570C>G (p.Gln524Glu)
c.1669C>G (p.Gln557Glu)
2g.188996404C>TCA349852561COL3A1c.1570C>T (p.Gln524Ter)
c.1669C>T (p.Gln557Ter)
2g.188996405A>CCA349852564COL3A1c.1571A>C (p.Gln524Pro)
c.1670A>C (p.Gln557Pro)
2g.188996405A>GCA349852566COL3A1c.1571A>G (p.Gln524Arg)
c.1670A>G (p.Gln557Arg)
2g.188996405A>TCA349852568COL3A1c.1571A>T (p.Gln524Leu)
c.1670A>T (p.Gln557Leu)
2g.188996405_188996455delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCCA1315399509COL3A1c.1571_1621delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC (p.Gln524=)
c.1670_1720delinsAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC (p.Gln557=)
2g.188996406A>CCA349852570COL3A1c.1572A>C (p.Gln524His)
c.1671A>C (p.Gln557His)
2g.188996406A>GCA430309808COL3A1c.1572A>G (p.Gln524=)
c.1671A>G (p.Gln557=)
 gnomAD v4
2g.188996406A>TCA349852572COL3A1c.1572A>T (p.Gln524His)
c.1671A>T (p.Gln557His)
2g.188996408_188996457delCA658796117COL3A1c.1574_1623del (p.Gly525AlafsTer10)
c.1673_1722del (p.Gly558AlafsTer10)
 ClinVar dbSNP
2g.188996407G>ACA349852574COL3A1c.1573G>A (p.Gly525Arg)
c.1672G>A (p.Gly558Arg)
 COSMIC COSMIC
2g.188996407G>CCA349852575COL3A1c.1573G>C (p.Gly525Arg)
c.1672G>C (p.Gly558Arg)
2g.188996407G>TCA349852577COL3A1c.1573G>T (p.Gly525Ter)
c.1672G>T (p.Gly558Ter)
2g.188996408G>ACA349852582COL3A1c.1574G>A (p.Gly525Glu)
c.1673G>A (p.Gly558Glu)
2g.188996408G>CCA349852581COL3A1c.1574G>C (p.Gly525Ala)
c.1673G>C (p.Gly558Ala)
2g.188996408G>TCA349852579COL3A1c.1574G>T (p.Gly525Val)
c.1673G>T (p.Gly558Val)
2g.188996409A>CCA430309809COL3A1c.1575A>C (p.Gly525=)
c.1674A>C (p.Gly558=)
2g.188996409A>GCA430309810COL3A1c.1575A>G (p.Gly525=)
c.1674A>G (p.Gly558=)
2g.188996409A>TCA430309811COL3A1c.1575A>T (p.Gly525=)
c.1674A>T (p.Gly558=)
 gnomAD v4
2g.188996410G>ACA349852583COL3A1c.1576G>A (p.Glu526Lys)
c.1675G>A (p.Glu559Lys)
 ClinVar gnomAD v4
2g.188996410G>CCA349852584COL3A1c.1576G>C (p.Glu526Gln)
c.1675G>C (p.Glu559Gln)
2g.188996410G>TCA349852587COL3A1c.1576G>T (p.Glu526Ter)
c.1675G>T (p.Glu559Ter)
2g.188996411A=CA1315399510COL3A1c.1577A= (p.Glu526=)
c.1676A= (p.Glu559=)
2g.188996411A>CCA004430COL3A1c.1577A>C (p.Glu526Ala)
c.1676A>C (p.Glu559Ala)
 ClinVar dbSNP
2g.188996411A>GCA349852590COL3A1c.1577A>G (p.Glu526Gly)
c.1676A>G (p.Glu559Gly)
2g.188996411A>TCA349852592COL3A1c.1577A>T (p.Glu526Val)
c.1676A>T (p.Glu559Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188996412A>CCA349852594COL3A1c.1578A>C (p.Glu526Asp)
c.1677A>C (p.Glu559Asp)
2g.188996412A>GCA430309812COL3A1c.1578A>G (p.Glu526=)
c.1677A>G (p.Glu559=)
2g.188996412A>TCA349852595COL3A1c.1578A>T (p.Glu526Asp)
c.1677A>T (p.Glu559Asp)
2g.188996413A=CA1315399511COL3A1c.1579A= (p.Ser527=)
c.1678A= (p.Ser560=)
2g.188996413A>CCA074555COL3A1c.1579A>C (p.Ser527Arg)
c.1678A>C (p.Ser560Arg)
 dbSNP ExAC gnomAD v2
2g.188996413A>GCA349852598COL3A1c.1579A>G (p.Ser527Gly)
c.1678A>G (p.Ser560Gly)
2g.188996413A>TCA349852600COL3A1c.1579A>T (p.Ser527Cys)
c.1678A>T (p.Ser560Cys)
2g.188996414G>ACA349852601COL3A1c.1580G>A (p.Ser527Asn)
c.1679G>A (p.Ser560Asn)
 gnomAD v4
2g.188996414G>CCA349852603COL3A1c.1580G>C (p.Ser527Thr)
c.1679G>C (p.Ser560Thr)
 gnomAD v4
2g.188996414G>TCA349852605COL3A1c.1580G>T (p.Ser527Ile)
c.1679G>T (p.Ser560Ile)
2g.188996415T>ACA349852612COL3A1c.1581T>A (p.Ser527Arg)
c.1680T>A (p.Ser560Arg)
2g.188996415T>CCA430309813COL3A1c.1581T>C (p.Ser527=)
c.1680T>C (p.Ser560=)
 dbSNP gnomAD v3 gnomAD v4
2g.188996415T>GCA349852613COL3A1c.1581T>G (p.Ser527Arg)
c.1680T>G (p.Ser560Arg)
2g.188996415T=CA1315399512COL3A1c.1581T= (p.Ser527=)
c.1680T= (p.Ser560=)
2g.188996416G>ACA349852615COL3A1c.1582G>A (p.Gly528Ser)
c.1681G>A (p.Gly561Ser)

Number of alleles fetched