Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
2g.188994235delCA1315398423COL3A1c.1097del
c.1196del
c.195del
 dbSNP
2g.188994235G>ACA349851323COL3A1c.1097G>A (p.Gly366Asp)
c.1196G>A (p.Gly399Asp)
c.195G>A
2g.188994235G>CCA16610545COL3A1c.1097G>C (p.Gly366Ala)
c.1196G>C (p.Gly399Ala)
c.195G>C
 ClinVar dbSNP
2g.188994235G=CA1315398424COL3A1c.1097G= (p.Gly366=)
c.1196G= (p.Gly399=)
c.195G=
2g.188994235G>TCA349851324COL3A1c.1097G>T (p.Gly366Val)
c.1196G>T (p.Gly399Val)
c.195G>T
2g.188994236T>ACA430309433COL3A1c.1098T>A (p.Gly366=)
c.1197T>A (p.Gly399=)
c.196T>A
 ClinVar
2g.188994236T>CCA62595215COL3A1c.1098T>C (p.Gly366=)
c.1197T>C (p.Gly399=)
c.196T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994236T>GCA430309434COL3A1c.1098T>G (p.Gly366=)
c.1197T>G (p.Gly399=)
c.196T>G
2g.188994236T=CA1315398425COL3A1c.1098T= (p.Gly366=)
c.1197T= (p.Gly399=)
c.196T=
2g.188994237C>ACA349851326COL3A1c.1099C>A (p.Pro367Thr)
c.1198C>A (p.Pro400Thr)
c.197C>A
 gnomAD v4
2g.188994237C=CA1315398426COL3A1c.1099C= (p.Pro367=)
c.1198C= (p.Pro400=)
c.197C=
2g.188994237C>GCA349851328COL3A1c.1099C>G (p.Pro367Ala)
c.1198C>G (p.Pro400Ala)
c.197C>G
 gnomAD v4
2g.188994237C>TCA349851329COL3A1c.1099C>T (p.Pro367Ser)
c.1198C>T (p.Pro400Ser)
c.197C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188994238C>ACA349851331COL3A1c.1100C>A (p.Pro367His)
c.1199C>A (p.Pro400His)
c.198C>A
2g.188994238C>GCA349851333COL3A1c.1100C>G (p.Pro367Arg)
c.1199C>G (p.Pro400Arg)
c.198C>G
2g.188994238C>TCA349851335COL3A1c.1100C>T (p.Pro367Leu)
c.1199C>T (p.Pro400Leu)
c.198C>T
2g.188994239C>ACA430309435COL3A1c.1101C>A (p.Pro367=)
c.1200C>A (p.Pro400=)
c.199C>A
2g.188994239C=CA1315398427COL3A1c.1101C= (p.Pro367=)
c.1200C= (p.Pro400=)
c.199C=
2g.188994239C>GCA430309436COL3A1c.1101C>G (p.Pro367=)
c.1200C>G (p.Pro400=)
c.199C>G
2g.188994239C>TCA073986COL3A1c.1101C>T (p.Pro367=)
c.1200C>T (p.Pro400=)
c.199C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188994240G>ACA073990COL3A1c.1102G>A (p.Ala368Thr)
c.1201G>A (p.Ala401Thr)
c.200G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994240G>CCA62595227COL3A1c.1102G>C (p.Ala368Pro)
c.1201G>C (p.Ala401Pro)
c.200G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994240G=CA1315398428COL3A1c.1102G= (p.Ala368=)
c.1201G= (p.Ala401=)
c.200G=
2g.188994240G>TCA349851339COL3A1c.1102G>T (p.Ala368Ser)
c.1201G>T (p.Ala401Ser)
c.200G>T
2g.188994241C>ACA349851345COL3A1c.1103C>A (p.Ala368Asp)
c.1202C>A (p.Ala401Asp)
c.201C>A
2g.188994241C=CA1315398429COL3A1c.1103C= (p.Ala368=)
c.1202C= (p.Ala401=)
c.201C=
2g.188994241C>GCA349851343COL3A1c.1103C>G (p.Ala368Gly)
c.1202C>G (p.Ala401Gly)
c.201C>G
2g.188994241C>TCA349851341COL3A1c.1103C>T (p.Ala368Val)
c.1202C>T (p.Ala401Val)
c.201C>T
 dbSNP gnomAD v4
2g.188994242T>ACA430309439COL3A1c.1104T>A (p.Ala368=)
c.1203T>A (p.Ala401=)
c.202T>A
2g.188994242T>CCA430309437COL3A1c.1104T>C (p.Ala368=)
c.1203T>C (p.Ala401=)
c.202T>C
 dbSNP gnomAD v3 gnomAD v4
2g.188994242T>GCA430309438COL3A1c.1104T>G (p.Ala368=)
c.1203T>G (p.Ala401=)
c.202T>G
2g.188994242T=CA1315398430COL3A1c.1104T= (p.Ala368=)
c.1203T= (p.Ala401=)
c.202T=
2g.188994243G>ACA16617389COL3A1c.1105G>A (p.Gly369Ser)
c.1204G>A (p.Gly402Ser)
c.203G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994243G>CCA349851347COL3A1c.1105G>C (p.Gly369Arg)
c.1204G>C (p.Gly402Arg)
c.203G>C
2g.188994243G=CA1315398431COL3A1c.1105G= (p.Gly369=)
c.1204G= (p.Gly402=)
c.203G=
2g.188994243G>TCA349851348COL3A1c.1105G>T (p.Gly369Cys)
c.1204G>T (p.Gly402Cys)
c.203G>T
2g.188994244G>ACA349851349COL3A1c.1106G>A (p.Gly369Asp)
c.1205G>A (p.Gly402Asp)
c.204G>A
2g.188994244G>CCA349851350COL3A1c.1106G>C (p.Gly369Ala)
c.1205G>C (p.Gly402Ala)
c.204G>C
2g.188994244G>TCA349851351COL3A1c.1106G>T (p.Gly369Val)
c.1205G>T (p.Gly402Val)
c.204G>T
2g.188994244_188994245delinsAACA004126COL3A1c.1106_1107delinsAA (p.Gly369Glu)
c.1205_1206delinsAA (p.Gly402Glu)
c.204_205delinsAA
 ClinVar dbSNP
2g.188994244_188994245delinsGCCA1315398432COL3A1c.1106_1107delinsGC (p.Gly369=)
c.1205_1206delinsGC (p.Gly402=)
c.204_205delinsGC
2g.188994245C>ACA430309440COL3A1c.1107C>A (p.Gly369=)
c.1206C>A (p.Gly402=)
c.205C>A
 dbSNP
2g.188994245C>GCA430309441COL3A1c.1107C>G (p.Gly369=)
c.1206C>G (p.Gly402=)
c.205C>G
2g.188994245C>TCA430309442COL3A1c.1107C>T (p.Gly369=)
c.1206C>T (p.Gly402=)
c.205C>T
2g.188994246A=CA1315398433COL3A1c.1108A= (p.Ile370=)
c.1207A= (p.Ile403=)
c.206A=
2g.188994246A>CCA349851352COL3A1c.1108A>C (p.Ile370Leu)
c.1207A>C (p.Ile403Leu)
c.206A>C
2g.188994246A>GCA349851354COL3A1c.1108A>G (p.Ile370Val)
c.1207A>G (p.Ile403Val)
c.206A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994246A>TCA349851353COL3A1c.1108A>T (p.Ile370Phe)
c.1207A>T (p.Ile403Phe)
c.206A>T
2g.188994247T>ACA349851355COL3A1c.1109T>A (p.Ile370Asn)
c.1208T>A (p.Ile403Asn)
c.207T>A

Number of alleles fetched