Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
2g.188994003A=CA1315398316COL3A1c.1051-35A= (n.1051-35A=)
c.1150-35A= (n.1150-35A=)
c.149-35A=
2g.188994003A>GCA073847COL3A1c.1051-35A>G (n.1051-35A>G)
c.1150-35A>G (n.1150-35A>G)
c.149-35A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994004C>GCA2753572102COL3A1c.1051-34C>G (n.1051-34C>G)
c.1150-34C>G (n.1150-34C>G)
c.149-34C>G
2g.188994006A>GCA2577185351COL3A1c.1051-32A>G (n.1051-32A>G)
c.1150-32A>G (n.1150-32A>G)
c.149-32A>G
 gnomAD v4
2g.188994006A>TCA647380834COL3A1c.1051-32A>T (n.1051-32A>T)
c.1150-32A>T (n.1150-32A>T)
c.149-32A>T
 COSMIC COSMIC
2g.188994007_188994010delinsTTAACA1315398317COL3A1c.1051-31_1051-28delinsTTAA (n.1051-31_1051-28delinsTTAA)
c.1150-31_1150-28delinsTTAA (n.1150-31_1150-28delinsTTAA)
c.149-31_149-28delinsTTAA
2g.188994008T>ACA538441232COL3A1c.1051-30T>A (n.1051-30T>A)
c.1150-30T>A (n.1150-30T>A)
c.149-30T>A
 dbSNP gnomAD v2 gnomAD v4
2g.188994008T>GCA073842COL3A1c.1051-30T>G (n.1051-30T>G)
c.1150-30T>G (n.1150-30T>G)
c.149-30T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994008T=CA1315398318COL3A1c.1051-30T= (n.1051-30T=)
c.1150-30T= (n.1150-30T=)
c.149-30T=
2g.188994010_188994012delCA762194618COL3A1c.1051-28_1051-26del (n.1051-28_1051-26del)
c.1150-28_1150-26del (n.1150-28_1150-26del)
c.149-28_149-26del
 dbSNP
2g.188994009A=CA1315398319COL3A1c.1051-29A= (n.1051-29A=)
c.1150-29A= (n.1150-29A=)
c.149-29A=
2g.188994009A>CCA1040406289COL3A1c.1051-29A>C (n.1051-29A>C)
c.1150-29A>C (n.1150-29A>C)
c.149-29A>C
 dbSNP gnomAD v3 gnomAD v4
2g.188994011T>CCA538441233COL3A1c.1051-27T>C (n.1051-27T>C)
c.1150-27T>C (n.1150-27T>C)
c.149-27T>C
 dbSNP gnomAD v2 gnomAD v4
2g.188994011T=CA1315398320COL3A1c.1051-27T= (n.1051-27T=)
c.1150-27T= (n.1150-27T=)
c.149-27T=
2g.188994012A>GCA2662288824COL3A1c.1051-26A>G (n.1051-26A>G)
c.1150-26A>G (n.1150-26A>G)
c.149-26A>G
 gnomAD v4
2g.188994013C>ACA2662288825COL3A1c.1051-25C>A (n.1051-25C>A)
c.1150-25C>A (n.1150-25C>A)
c.149-25C>A
 gnomAD v4
2g.188994013C>TCA2530447378COL3A1c.1051-25C>T (n.1051-25C>T)
c.1150-25C>T (n.1150-25C>T)
c.149-25C>T
 gnomAD v4
2g.188994014A=CA1315398321COL3A1c.1051-24A= (n.1051-24A=)
c.1150-24A= (n.1150-24A=)
c.149-24A=
2g.188994014A>CCA538441234COL3A1c.1051-24A>C (n.1051-24A>C)
c.1150-24A>C (n.1150-24A>C)
c.149-24A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994014A>GCA073839COL3A1c.1051-24A>G (n.1051-24A>G)
c.1150-24A>G (n.1150-24A>G)
c.149-24A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994016T>CCA073837COL3A1c.1051-22T>C (n.1051-22T>C)
c.1150-22T>C (n.1150-22T>C)
c.149-22T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994016T=CA1315398322COL3A1c.1051-22T= (n.1051-22T=)
c.1150-22T= (n.1150-22T=)
c.149-22T=
2g.188994017A=CA1315398323COL3A1c.1051-21A= (n.1051-21A=)
c.1150-21A= (n.1150-21A=)
c.149-21A=
2g.188994017A>GCA1315398324COL3A1c.1051-21A>G (n.1051-21A>G)
c.1150-21A>G (n.1150-21A>G)
c.149-21A>G
 dbSNP
2g.188994018T>CCA073832COL3A1c.1051-20T>C (n.1051-20T>C)
c.1150-20T>C (n.1150-20T>C)
c.149-20T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994018T=CA1315398325COL3A1c.1051-20T= (n.1051-20T=)
c.1150-20T= (n.1150-20T=)
c.149-20T=
2g.188994019C>ACA2662288826COL3A1c.1051-19C>A (n.1051-19C>A)
c.1150-19C>A (n.1150-19C>A)
c.149-19C>A
 gnomAD v4
2g.188994019C=CA1315398326COL3A1c.1051-19C= (n.1051-19C=)
c.1150-19C= (n.1150-19C=)
c.149-19C=
2g.188994019C>TCA538441235COL3A1c.1051-19C>T (n.1051-19C>T)
c.1150-19C>T (n.1150-19C>T)
c.149-19C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994020T>CCA430309402COL3A1c.1051-18T>C (n.1051-18T>C)
c.1150-18T>C (n.1150-18T>C)
c.149-18T>C
2g.188994022T>GCA2740351962COL3A1c.1051-16T>G (n.1051-16T>G)
c.1150-16T>G (n.1150-16T>G)
c.149-16T>G
2g.188994027dupCA2662288827COL3A1c.1051-11dup (n.1051-11dup)
c.1150-11dup (n.1150-11dup)
c.149-11dup
 gnomAD v4
2g.188994027delCA2662288828COL3A1c.1051-11del (n.1051-11del)
c.1150-11del (n.1150-11del)
c.149-11del
 ClinVar gnomAD v4
2g.188994023T>CCA1315398328COL3A1c.1051-15T>C (n.1051-15T>C)
c.1150-15T>C (n.1150-15T>C)
c.149-15T>C
 dbSNP
2g.188994023T=CA1315398327COL3A1c.1051-15T= (n.1051-15T=)
c.1150-15T= (n.1150-15T=)
c.149-15T=
2g.188994025T>CCA004097COL3A1c.1051-13T>C (n.1051-13T>C)
c.1150-13T>C (n.1150-13T>C)
c.149-13T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994025T=CA1315398329COL3A1c.1051-13T= (n.1051-13T=)
c.1150-13T= (n.1150-13T=)
c.149-13T=
2g.188994028G>ACA538441236COL3A1c.1051-10G>A (n.1051-10G>A)
c.1150-10G>A (n.1150-10G>A)
c.149-10G>A
 dbSNP gnomAD v2
2g.188994028G=CA1315398330COL3A1c.1051-10G= (n.1051-10G=)
c.1150-10G= (n.1150-10G=)
c.149-10G=
2g.188994028G>TCA2825001061COL3A1c.1051-10G>T (n.1051-10G>T)
c.1150-10G>T (n.1150-10G>T)
c.149-10G>T
 ClinVar
2g.188994031_188994032dupCA2739278528COL3A1c.1051-7_1051-6dup (n.1051-7_1051-6dup)
c.1150-7_1150-6dup (n.1150-7_1150-6dup)
c.149-7_149-6dup
 ClinVar
2g.188994030A=CA1315398331COL3A1c.1051-8A= (n.1051-8A=)
c.1150-8A= (n.1150-8A=)
c.149-8A=
2g.188994030A>GCA073882COL3A1c.1051-8A>G (n.1051-8A>G)
c.1150-8A>G (n.1150-8A>G)
c.149-8A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994030A>TCA2662288829COL3A1c.1051-8A>T (n.1051-8A>T)
c.1150-8A>T (n.1150-8A>T)
c.149-8A>T
 gnomAD v4
2g.188994031T>CCA1139657557COL3A1c.1051-7T>C (n.1051-7T>C)
c.1150-7T>C (n.1150-7T>C)
c.149-7T>C
 ClinVar dbSNP
2g.188994031T=CA1315398332COL3A1c.1051-7T= (n.1051-7T=)
c.1150-7T= (n.1150-7T=)
c.149-7T=
2g.188994032A=CA1315398333COL3A1c.1051-6A= (n.1051-6A=)
c.1150-6A= (n.1150-6A=)
c.149-6A=
2g.188994032A>GCA073877COL3A1c.1051-6A>G (n.1051-6A>G)
c.1150-6A>G (n.1150-6A>G)
c.149-6A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994032_188994036delinsTGCA2586965508COL3A1c.1051-6_1051-2delinsTG (n.1051-6_1051-2delinsTG)
c.1150-6_1150-2delinsTG (n.1150-6_1150-2delinsTG)
c.149-6_149-2delinsTG
2g.188994033C=CA1315398334COL3A1c.1051-5C= (n.1051-5C=)
c.1150-5C= (n.1150-5C=)
c.149-5C=
2g.188994033C>GCA2662288830COL3A1c.1051-5C>G (n.1051-5C>G)
c.1150-5C>G (n.1150-5C>G)
c.149-5C>G
 gnomAD v4
2g.188994033C>TCA073873COL3A1c.1051-5C>T (n.1051-5C>T)
c.1150-5C>T (n.1150-5C>T)
c.149-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994034T>ACA073867COL3A1c.1051-4T>A (n.1051-4T>A)
c.1150-4T>A (n.1150-4T>A)
c.149-4T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994034T>CCA1315398336COL3A1c.1051-4T>C (n.1051-4T>C)
c.1150-4T>C (n.1150-4T>C)
c.149-4T>C
 ClinVar dbSNP
2g.188994034T>GCA073871COL3A1c.1051-4T>G (n.1051-4T>G)
c.1150-4T>G (n.1150-4T>G)
c.149-4T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994034T=CA1315398335COL3A1c.1051-4T= (n.1051-4T=)
c.1150-4T= (n.1150-4T=)
c.149-4T=
2g.188994035T>GCA2580065333COL3A1c.1051-3T>G (n.1051-3T>G)
c.1150-3T>G (n.1150-3T>G)
c.149-3T>G
 ClinVar
2g.188994036A>CCA349851100COL3A1c.1051-2A>C (n.1051-2A>C)
c.1150-2A>C (n.1150-2A>C)
c.149-2A>C
2g.188994036A>GCA349851101COL3A1c.1051-2A>G (n.1051-2A>G)
c.1150-2A>G (n.1150-2A>G)
c.149-2A>G
2g.188994036A>TCA349851103COL3A1c.1051-2A>T (n.1051-2A>T)
c.1150-2A>T (n.1150-2A>T)
c.149-2A>T
2g.188994036_188994054delinsAGGGCCCTCCTGGGATTAACA1315398337COL3A1c.1051-2_1067delinsAGGGCCCTCCTGGGATTAA
c.1150-2_1166delinsAGGGCCCTCCTGGGATTAA
c.149-2_165delinsAGGGCCCTCCTGGGATTAA
2g.188994037G>ACA349851106COL3A1c.1051-1G>A (n.1051-1G>A)
c.1150-1G>A (n.1150-1G>A)
c.149-1G>A
2g.188994037G>CCA004101COL3A1c.1051-1G>C (n.1051-1G>C)
c.1150-1G>C (n.1150-1G>C)
c.149-1G>C
 ClinVar dbSNP
2g.188994037G=CA1315398338COL3A1c.1051-1G= (n.1051-1G=)
c.1150-1G= (n.1150-1G=)
c.149-1G=
2g.188994037G>TCA349851108COL3A1c.1051-1G>T (n.1051-1G>T)
c.1150-1G>T (n.1150-1G>T)
c.149-1G>T
2g.188994037_188994054delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACCCA286231COL3A1c.1051-1_1067delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC
c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC
c.149-1_165delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC
 ClinVar dbSNP
2g.188994038G>ACA349851111COL3A1c.1051G>A (p.Gly351Ser)
c.1150G>A (p.Gly384Ser)
c.149G>A
 gnomAD v4
2g.188994038G>CCA349851112COL3A1c.1051G>C (p.Gly351Arg)
c.1150G>C (p.Gly384Arg)
c.149G>C
 ClinVar
2g.188994038G=CA1315398339COL3A1c.1051G= (p.Gly351=)
c.1150G= (p.Gly384=)
c.149G=
2g.188994038G>TCA349851115COL3A1c.1051G>T (p.Gly351Cys)
c.1150G>T (p.Gly384Cys)
c.149G>T
 dbSNP gnomAD v2 gnomAD v4
2g.188994039G>ACA349851117COL3A1c.1052G>A (p.Gly351Asp)
c.1151G>A (p.Gly384Asp)
c.150G>A
 ClinVar
2g.188994039G>CCA349851119COL3A1c.1052G>C (p.Gly351Ala)
c.1151G>C (p.Gly384Ala)
c.150G>C
2g.188994039G=CA1315398340COL3A1c.1052G= (p.Gly351=)
c.1151G= (p.Gly384=)
c.150G=
2g.188994039G>TCA004106COL3A1c.1052G>T (p.Gly351Val)
c.1151G>T (p.Gly384Val)
c.150G>T
 ClinVar dbSNP
2g.188994040C>ACA430309403COL3A1c.1053C>A (p.Gly351=)
c.1152C>A (p.Gly384=)
c.151C>A
2g.188994040C=CA1315398341COL3A1c.1053C= (p.Gly351=)
c.1152C= (p.Gly384=)
c.151C=
2g.188994040C>GCA430309404COL3A1c.1053C>G (p.Gly351=)
c.1152C>G (p.Gly384=)
c.151C>G
2g.188994040C>TCA430309405COL3A1c.1053C>T (p.Gly351=)
c.1152C>T (p.Gly384=)
c.151C>T
 ClinVar dbSNP gnomAD v4
2g.188994041C>ACA349851126COL3A1c.1054C>A (p.Pro352Thr)
c.1153C>A (p.Pro385Thr)
c.152C>A
 gnomAD v4
2g.188994041C=CA1315398342COL3A1c.1054C= (p.Pro352=)
c.1153C= (p.Pro385=)
c.152C=
2g.188994041C>GCA349851122COL3A1c.1054C>G (p.Pro352Ala)
c.1153C>G (p.Pro385Ala)
c.152C>G
2g.188994041C>TCA349851124COL3A1c.1054C>T (p.Pro352Ser)
c.1153C>T (p.Pro385Ser)
c.152C>T
 dbSNP gnomAD v4
2g.188994042C>ACA349851128COL3A1c.1055C>A (p.Pro352His)
c.1154C>A (p.Pro385His)
c.153C>A
2g.188994042C=CA1315398343COL3A1c.1055C= (p.Pro352=)
c.1154C= (p.Pro385=)
c.153C=
2g.188994042C>GCA349851129COL3A1c.1055C>G (p.Pro352Arg)
c.1154C>G (p.Pro385Arg)
c.153C>G
 gnomAD v4
2g.188994042C>TCA349851131COL3A1c.1055C>T (p.Pro352Leu)
c.1154C>T (p.Pro385Leu)
c.153C>T
 ClinVar dbSNP
2g.188994043T>ACA430309406COL3A1c.1056T>A (p.Pro352=)
c.1155T>A (p.Pro385=)
c.154T>A
2g.188994043T>CCA430309407COL3A1c.1056T>C (p.Pro352=)
c.1155T>C (p.Pro385=)
c.154T>C
2g.188994043T>GCA430309408COL3A1c.1056T>G (p.Pro352=)
c.1155T>G (p.Pro385=)
c.154T>G
 gnomAD v3 gnomAD v4
2g.188994044C>ACA349851134COL3A1c.1057C>A (p.Pro353Thr)
c.1156C>A (p.Pro386Thr)
c.155C>A
2g.188994044C=CA1315398344COL3A1c.1057C= (p.Pro353=)
c.1156C= (p.Pro386=)
c.155C=
2g.188994044C>GCA349851135COL3A1c.1057C>G (p.Pro353Ala)
c.1156C>G (p.Pro386Ala)
c.155C>G
 gnomAD v4
2g.188994044C>TCA073885COL3A1c.1057C>T (p.Pro353Ser)
c.1156C>T (p.Pro386Ser)
c.155C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994045C>ACA349851137COL3A1c.1058C>A (p.Pro353His)
c.1157C>A (p.Pro386His)
c.156C>A
2g.188994045C>GCA349851138COL3A1c.1058C>G (p.Pro353Arg)
c.1157C>G (p.Pro386Arg)
c.156C>G
2g.188994045C>TCA349851139COL3A1c.1058C>T (p.Pro353Leu)
c.1157C>T (p.Pro386Leu)
c.156C>T
 gnomAD v4
2g.188994046T>ACA430309411COL3A1c.1059T>A (p.Pro353=)
c.1158T>A (p.Pro386=)
c.157T>A
2g.188994046T>CCA430309409COL3A1c.1059T>C (p.Pro353=)
c.1158T>C (p.Pro386=)
c.157T>C
 ClinVar
2g.188994046T>GCA430309410COL3A1c.1059T>G (p.Pro353=)
c.1158T>G (p.Pro386=)
c.157T>G
2g.188994047G>ACA349851141COL3A1c.1060G>A (p.Gly354Arg)
c.1159G>A (p.Gly387Arg)
c.158G>A
2g.188994047G>CCA349851143COL3A1c.1060G>C (p.Gly354Arg)
c.1159G>C (p.Gly387Arg)
c.158G>C
2g.188994047G>TCA349851144COL3A1c.1060G>T (p.Gly354Trp)
c.1159G>T (p.Gly387Trp)
c.158G>T
2g.188994048G>ACA62595048COL3A1c.1061G>A (p.Gly354Glu)
c.1160G>A (p.Gly387Glu)
c.159G>A
 dbSNP COSMIC COSMIC
2g.188994048G>CCA349851148COL3A1c.1061G>C (p.Gly354Ala)
c.1160G>C (p.Gly387Ala)
c.159G>C
2g.188994048G=CA1315398345COL3A1c.1061G= (p.Gly354=)
c.1160G= (p.Gly387=)
c.159G=
2g.188994048G>TCA349851146COL3A1c.1061G>T (p.Gly354Val)
c.1160G>T (p.Gly387Val)
c.159G>T
2g.188994049G>ACA430309412COL3A1c.1062G>A (p.Gly354=)
c.1161G>A (p.Gly387=)
c.160G>A
 ClinVar dbSNP gnomAD v4
2g.188994049G>CCA430309413COL3A1c.1062G>C (p.Gly354=)
c.1161G>C (p.Gly387=)
c.160G>C
2g.188994049G>TCA430309414COL3A1c.1062G>T (p.Gly354=)
c.1161G>T (p.Gly387=)
c.160G>T
2g.188994050A>CCA349851151COL3A1c.1063A>C (p.Ile355Leu)
c.1162A>C (p.Ile388Leu)
c.161A>C
2g.188994050A>GCA349851155COL3A1c.1063A>G (p.Ile355Val)
c.1162A>G (p.Ile388Val)
c.161A>G
2g.188994050A>TCA349851153COL3A1c.1063A>T (p.Ile355Phe)
c.1162A>T (p.Ile388Phe)
c.161A>T
2g.188994051T>ACA349851157COL3A1c.1064T>A (p.Ile355Asn)
c.1163T>A (p.Ile388Asn)
c.162T>A
2g.188994051T>CCA349851158COL3A1c.1064T>C (p.Ile355Thr)
c.1163T>C (p.Ile388Thr)
c.162T>C
2g.188994051T>GCA349851159COL3A1c.1064T>G (p.Ile355Ser)
c.1163T>G (p.Ile388Ser)
c.162T>G
2g.188994052T>ACA430309416COL3A1c.1065T>A (p.Ile355=)
c.1164T>A (p.Ile388=)
c.163T>A
2g.188994052T>CCA430309415COL3A1c.1065T>C (p.Ile355=)
c.1164T>C (p.Ile388=)
c.163T>C
 ClinVar dbSNP
2g.188994052T>GCA349851161COL3A1c.1065T>G (p.Ile355Met)
c.1164T>G (p.Ile388Met)
c.163T>G
2g.188994053A=CA1315398346COL3A1c.1066A= (p.Asn356=)
c.1165A= (p.Asn389=)
c.164A=
2g.188994053A>CCA349851163COL3A1c.1066A>C (p.Asn356His)
c.1165A>C (p.Asn389His)
c.164A>C
2g.188994053A>GCA349851164COL3A1c.1066A>G (p.Asn356Asp)
c.1165A>G (p.Asn389Asp)
c.164A>G
2g.188994053A>TCA004110COL3A1c.1066A>T (p.Asn356Tyr)
c.1165A>T (p.Asn389Tyr)
c.164A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994054A=CA1315398347COL3A1c.1067A= (p.Asn356=)
c.1166A= (p.Asn389=)
c.165A=
2g.188994054A>CCA349851167COL3A1c.1067A>C (p.Asn356Thr)
c.1166A>C (p.Asn389Thr)
c.165A>C
2g.188994054A>GCA349851169COL3A1c.1067A>G (p.Asn356Ser)
c.1166A>G (p.Asn389Ser)
c.165A>G
 dbSNP
2g.188994054A>TCA349851170COL3A1c.1067A>T (p.Asn356Ile)
c.1166A>T (p.Asn389Ile)
c.165A>T
2g.188994055T>ACA349851171COL3A1c.1068T>A (p.Asn356Lys)
c.1167T>A (p.Asn389Lys)
c.166T>A
2g.188994055T>CCA430309417COL3A1c.1068T>C (p.Asn356=)
c.1167T>C (p.Asn389=)
c.166T>C
 gnomAD v4
2g.188994055T>GCA349851173COL3A1c.1068T>G (p.Asn356Lys)
c.1167T>G (p.Asn389Lys)
c.166T>G
 gnomAD v4
2g.188994056G>ACA349851179COL3A1c.1069G>A (p.Gly357Ser)
c.1168G>A (p.Gly390Ser)
c.167G>A
2g.188994056G>CCA349851175COL3A1c.1069G>C (p.Gly357Arg)
c.1168G>C (p.Gly390Arg)
c.167G>C
2g.188994056G>TCA349851177COL3A1c.1069G>T (p.Gly357Cys)
c.1168G>T (p.Gly390Cys)
c.167G>T
2g.188994057G>ACA349851181COL3A1c.1070G>A (p.Gly357Asp)
c.1169G>A (p.Gly390Asp)
c.168G>A
2g.188994057G>CCA349851183COL3A1c.1070G>C (p.Gly357Ala)
c.1169G>C (p.Gly390Ala)
c.168G>C
2g.188994057G>TCA349851185COL3A1c.1070G>T (p.Gly357Val)
c.1169G>T (p.Gly390Val)
c.168G>T
2g.188994058T>ACA430309418COL3A1c.1071T>A (p.Gly357=)
c.1170T>A (p.Gly390=)
c.169T>A
2g.188994058T>CCA430309419COL3A1c.1071T>C (p.Gly357=)
c.1170T>C (p.Gly390=)
c.169T>C
2g.188994058T>GCA430309420COL3A1c.1071T>G (p.Gly357=)
c.1170T>G (p.Gly390=)
c.169T>G
2g.188994059A>CCA349851188COL3A1c.1072A>C (p.Ser358Arg)
c.1171A>C (p.Ser391Arg)
c.170A>C
2g.188994059A>GCA349851189COL3A1c.1072A>G (p.Ser358Gly)
c.1171A>G (p.Ser391Gly)
c.170A>G
2g.188994059A>TCA349851190COL3A1c.1072A>T (p.Ser358Cys)
c.1171A>T (p.Ser391Cys)
c.170A>T
2g.188994060G>ACA349851193COL3A1c.1073G>A (p.Ser358Asn)
c.1172G>A (p.Ser391Asn)
c.171G>A
 gnomAD v4
2g.188994060G>CCA349851194COL3A1c.1073G>C (p.Ser358Thr)
c.1172G>C (p.Ser391Thr)
c.171G>C
2g.188994060G>TCA349851196COL3A1c.1073G>T (p.Ser358Ile)
c.1172G>T (p.Ser391Ile)
c.171G>T
2g.188994060_188994061delinsGTCA1315398348COL3A1c.1073_1074delinsGT (p.Ser358=)
c.1172_1173delinsGT (p.Ser391=)
c.171_172delinsGT
2g.188994061delCA658796116COL3A1c.1074del (p.Pro359LeufsTer18)
c.1173del (p.Pro392LeufsTer18)
c.172del
 ClinVar dbSNP
2g.188994061T>ACA349851198COL3A1c.1074T>A (p.Ser358Arg)
c.1173T>A (p.Ser391Arg)
c.172T>A
2g.188994061T>CCA430309421COL3A1c.1074T>C (p.Ser358=)
c.1173T>C (p.Ser391=)
c.172T>C
2g.188994061T>GCA349851199COL3A1c.1074T>G (p.Ser358Arg)
c.1173T>G (p.Ser391Arg)
c.172T>G
2g.188994062C>ACA349851204COL3A1c.1075C>A (p.Pro359Thr)
c.1174C>A (p.Pro392Thr)
c.173C>A
2g.188994062C>GCA349851202COL3A1c.1075C>G (p.Pro359Ala)
c.1174C>G (p.Pro392Ala)
c.173C>G
2g.188994062C>TCA349851200COL3A1c.1075C>T (p.Pro359Ser)
c.1174C>T (p.Pro392Ser)
c.173C>T
2g.188994063C>ACA349851206COL3A1c.1076C>A (p.Pro359His)
c.1175C>A (p.Pro392His)
c.174C>A
2g.188994063C>GCA349851207COL3A1c.1076C>G (p.Pro359Arg)
c.1175C>G (p.Pro392Arg)
c.174C>G
2g.188994063C>TCA349851208COL3A1c.1076C>T (p.Pro359Leu)
c.1175C>T (p.Pro392Leu)
c.174C>T
 gnomAD v4
2g.188994064T>ACA430309422COL3A1c.1077T>A (p.Pro359=)
c.1176T>A (p.Pro392=)
c.175T>A
2g.188994064T>CCA073893COL3A1c.1077T>C (p.Pro359=)
c.1176T>C (p.Pro392=)
c.175T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994064T>GCA430309423COL3A1c.1077T>G (p.Pro359=)
c.1176T>G (p.Pro392=)
c.175T>G
2g.188994064T=CA1315398349COL3A1c.1077T= (p.Pro359=)
c.1176T= (p.Pro392=)
c.175T=
2g.188994065G>ACA349851210COL3A1c.1078G>A (p.Gly360Ser)
c.1177G>A (p.Gly393Ser)
c.176G>A
 gnomAD v4
2g.188994065G>CCA349851211COL3A1c.1078G>C (p.Gly360Arg)
c.1177G>C (p.Gly393Arg)
c.176G>C
 ClinVar dbSNP
2g.188994065G>TCA349851212COL3A1c.1078G>T (p.Gly360Cys)
c.1177G>T (p.Gly393Cys)
c.176G>T
 gnomAD v4
2g.188994066G>ACA349851215COL3A1c.1079G>A (p.Gly360Asp)
c.1178G>A (p.Gly393Asp)
c.177G>A
 ClinVar dbSNP
2g.188994066G>CCA349851216COL3A1c.1079G>C (p.Gly360Ala)
c.1178G>C (p.Gly393Ala)
c.177G>C
 gnomAD v4
2g.188994066G=CA1315398350COL3A1c.1079G= (p.Gly360=)
c.1178G= (p.Gly393=)
c.177G=
2g.188994066G>TCA349851218COL3A1c.1079G>T (p.Gly360Val)
c.1178G>T (p.Gly393Val)
c.177G>T
2g.188994067T>ACA430309426COL3A1c.1080T>A (p.Gly360=)
c.1179T>A (p.Gly393=)
c.178T>A
2g.188994067T>CCA430309425COL3A1c.1080T>C (p.Gly360=)
c.1179T>C (p.Gly393=)
c.178T>C
 ClinVar
2g.188994067T>GCA430309424COL3A1c.1080T>G (p.Gly360=)
c.1179T>G (p.Gly393=)
c.178T>G
2g.188994068G>ACA349851219COL3A1c.1081G>A (p.Gly361Ser)
c.1180G>A (p.Gly394Ser)
c.179G>A
 COSMIC COSMIC
2g.188994068G>CCA349851221COL3A1c.1081G>C (p.Gly361Arg)
c.1180G>C (p.Gly394Arg)
c.179G>C
2g.188994068G>TCA349851223COL3A1c.1081G>T (p.Gly361Cys)
c.1180G>T (p.Gly394Cys)
c.179G>T
2g.188994069G>ACA349851228COL3A1c.1082G>A (p.Gly361Asp)
c.1181G>A (p.Gly394Asp)
c.180G>A
2g.188994069G>CCA349851225COL3A1c.1082G>C (p.Gly361Ala)
c.1181G>C (p.Gly394Ala)
c.180G>C
 COSMIC COSMIC
2g.188994069G>TCA349851227COL3A1c.1082G>T (p.Gly361Val)
c.1181G>T (p.Gly394Val)
c.180G>T
2g.188994070T>ACA430309427COL3A1c.1083T>A (p.Gly361=)
c.1182T>A (p.Gly394=)
c.181T>A
2g.188994070T>CCA430309428COL3A1c.1083T>C (p.Gly361=)
c.1182T>C (p.Gly394=)
c.181T>C
2g.188994070T>GCA430309429COL3A1c.1083T>G (p.Gly361=)
c.1182T>G (p.Gly394=)
c.181T>G
2g.188994071A>CCA349851231COL3A1c.1084A>C (p.Lys362Gln)
c.1183A>C (p.Lys395Gln)
c.182A>C
2g.188994071A>GCA349851232COL3A1c.1084A>G (p.Lys362Glu)
c.1183A>G (p.Lys395Glu)
c.182A>G
2g.188994071A>TCA349851233COL3A1c.1084A>T (p.Lys362Ter)
c.1183A>T (p.Lys395Ter)
c.182A>T
2g.188994072A>CCA349851234COL3A1c.1085A>C (p.Lys362Thr)
c.1184A>C (p.Lys395Thr)
c.183A>C
2g.188994072A>GCA349851236COL3A1c.1085A>G (p.Lys362Arg)
c.1184A>G (p.Lys395Arg)
c.183A>G
2g.188994072A>TCA349851238COL3A1c.1085A>T (p.Lys362Ile)
c.1184A>T (p.Lys395Ile)
c.183A>T
2g.188994073A>CCA349851240COL3A1c.1086A>C (p.Lys362Asn)
c.1185A>C (p.Lys395Asn)
c.184A>C
2g.188994073A>GCA430309430COL3A1c.1086A>G (p.Lys362=)
c.1185A>G (p.Lys395=)
c.184A>G
2g.188994073A>TCA349851241COL3A1c.1086A>T (p.Lys362Asn)
c.1185A>T (p.Lys395Asn)
c.184A>T
2g.188994074G>ACA349851244COL3A1c.1087G>A (p.Gly363Ser)
c.1186G>A (p.Gly396Ser)
c.185G>A
 ClinVar
2g.188994074G>CCA349851246COL3A1c.1087G>C (p.Gly363Arg)
c.1186G>C (p.Gly396Arg)
c.185G>C
2g.188994074G>TCA349851247COL3A1c.1087G>T (p.Gly363Cys)
c.1186G>T (p.Gly396Cys)
c.185G>T
 COSMIC COSMIC
2g.188994074_188994103delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCACA1315398351COL3A1c.1087_1095+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA
c.1186_1194+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA
c.185_193+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA
2g.188994075G>ACA349851254COL3A1c.1088G>A (p.Gly363Asp)
c.1187G>A (p.Gly396Asp)
c.186G>A
 ClinVar gnomAD v4
2g.188994075G>CCA349851250COL3A1c.1088G>C (p.Gly363Ala)
c.1187G>C (p.Gly396Ala)
c.186G>C
2g.188994075G>TCA349851251COL3A1c.1088G>T (p.Gly363Val)
c.1187G>T (p.Gly396Val)
c.186G>T
2g.188994077_188994105delCA285858COL3A1c.1090_1095+23del
c.1189_1194+23del
c.188_193+23del
 ClinVar dbSNP
2g.188994076C>ACA430309431COL3A1c.1089C>A (p.Gly363=)
c.1188C>A (p.Gly396=)
c.187C>A
 dbSNP gnomAD v4
2g.188994076C=CA1315398352COL3A1c.1089C= (p.Gly363=)
c.1188C= (p.Gly396=)
c.187C=
2g.188994076C>GCA073897COL3A1c.1089C>G (p.Gly363=)
c.1188C>G (p.Gly396=)
c.187C>G
 dbSNP ExAC gnomAD v4
2g.188994076C>TCA073901COL3A1c.1089C>T (p.Gly363=)
c.1188C>T (p.Gly396=)
c.187C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994077G>ACA073905COL3A1c.1090G>A (p.Glu364Lys)
c.1189G>A (p.Glu397Lys)
c.188G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188994077G>CCA349851259COL3A1c.1090G>C (p.Glu364Gln)
c.1189G>C (p.Glu397Gln)
c.188G>C
2g.188994077G=CA1315398353COL3A1c.1090G= (p.Glu364=)
c.1189G= (p.Glu397=)
c.188G=
2g.188994077G>TCA349851260COL3A1c.1090G>T (p.Glu364Ter)
c.1189G>T (p.Glu397Ter)
c.188G>T
 ClinVar dbSNP COSMIC COSMIC
2g.188994078A>CCA349851263COL3A1c.1091A>C (p.Glu364Ala)
c.1190A>C (p.Glu397Ala)
c.189A>C
2g.188994078A>GCA349851266COL3A1c.1091A>G (p.Glu364Gly)
c.1190A>G (p.Glu397Gly)
c.189A>G
2g.188994078A>TCA349851264COL3A1c.1091A>T (p.Glu364Val)
c.1190A>T (p.Glu397Val)
c.189A>T
2g.188994079A>CCA349851268COL3A1c.1092A>C (p.Glu364Asp)
c.1191A>C (p.Glu397Asp)
c.190A>C
2g.188994079A>GCA430309432COL3A1c.1092A>G (p.Glu364=)
c.1191A>G (p.Glu397=)
c.190A>G
2g.188994079A>TCA349851270COL3A1c.1092A>T (p.Glu364Asp)
c.1191A>T (p.Glu397Asp)
c.190A>T
2g.188994080A>CCA349851272COL3A1c.1093A>C (p.Met365Leu)
c.1192A>C (p.Met398Leu)
c.191A>C
 gnomAD v4
2g.188994080A>GCA349851273COL3A1c.1093A>G (p.Met365Val)
c.1192A>G (p.Met398Val)
c.191A>G
2g.188994080A>TCA349851275COL3A1c.1093A>T (p.Met365Leu)
c.1192A>T (p.Met398Leu)
c.191A>T
2g.188994081T>ACA349851278COL3A1c.1094T>A (p.Met365Lys)
c.1193T>A (p.Met398Lys)
c.192T>A
2g.188994081T>CCA349851280COL3A1c.1094T>C (p.Met365Thr)
c.1193T>C (p.Met398Thr)
c.192T>C
2g.188994081T>GCA349851281COL3A1c.1094T>G (p.Met365Arg)
c.1193T>G (p.Met398Arg)
c.192T>G
2g.188994082G>ACA349851282COL3A1c.1095G>A (p.Met365Ile)
c.1194G>A (p.Met398Ile)
c.193G>A
2g.188994082G>CCA349851284COL3A1c.1095G>C (p.Met365Ile)
c.1194G>C (p.Met398Ile)
c.193G>C
2g.188994082G>TCA349851285COL3A1c.1095G>T (p.Met365Ile)
c.1194G>T (p.Met398Ile)
c.193G>T
2g.188994083G>ACA004113COL3A1c.1095+1G>A (n.1095+1G>A)
c.1194+1G>A (n.1194+1G>A)
c.193+1G>A
 ClinVar dbSNP COSMIC
2g.188994083G>CCA004116COL3A1c.1095+1G>C (n.1095+1G>C)
c.1194+1G>C (n.1194+1G>C)
c.193+1G>C
 ClinVar dbSNP
2g.188994083G=CA1315398354COL3A1c.1095+1G= (n.1095+1G=)
c.1194+1G= (n.1194+1G=)
c.193+1G=
2g.188994083G>TCA349851287COL3A1c.1095+1G>T (n.1095+1G>T)
c.1194+1G>T (n.1194+1G>T)
c.193+1G>T
2g.188994084T>ACA349851290COL3A1c.1095+2T>A (n.1095+2T>A)
c.1194+2T>A (n.1194+2T>A)
c.193+2T>A
2g.188994084T>CCA349851291COL3A1c.1095+2T>C (n.1095+2T>C)
c.1194+2T>C (n.1194+2T>C)
c.193+2T>C
2g.188994084T>GCA349851293COL3A1c.1095+2T>G (n.1095+2T>G)
c.1194+2T>G (n.1194+2T>G)
c.193+2T>G
2g.188994087G>ACA1315398356COL3A1c.1095+5G>A (n.1095+5G>A)
c.1194+5G>A (n.1194+5G>A)
c.193+5G>A
 dbSNP gnomAD v4
2g.188994087G>CCA2580065335COL3A1c.1095+5G>C (n.1095+5G>C)
c.1194+5G>C (n.1194+5G>C)
c.193+5G>C
 ClinVar dbSNP
2g.188994087G=CA1315398355COL3A1c.1095+5G= (n.1095+5G=)
c.1194+5G= (n.1194+5G=)
c.193+5G=
2g.188994088C>ACA538441237COL3A1c.1095+6C>A (n.1095+6C>A)
c.1194+6C>A (n.1194+6C>A)
c.193+6C>A
 dbSNP gnomAD v2 gnomAD v4
2g.188994088C=CA1315398357COL3A1c.1095+6C= (n.1095+6C=)
c.1194+6C= (n.1194+6C=)
c.193+6C=
2g.188994090G>CCA538441238COL3A1c.1095+8G>C (n.1095+8G>C)
c.1194+8G>C (n.1194+8G>C)
c.193+8G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994090G=CA1315398358COL3A1c.1095+8G= (n.1095+8G=)
c.1194+8G= (n.1194+8G=)
c.193+8G=
2g.188994091T>CCA658657189COL3A1c.1095+9T>C (n.1095+9T>C)
c.1194+9T>C (n.1194+9T>C)
c.193+9T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994091T=CA1315398359COL3A1c.1095+9T= (n.1095+9T=)
c.1194+9T= (n.1194+9T=)
c.193+9T=
2g.188994093C=CA1315398360COL3A1c.1095+11C= (n.1095+11C=)
c.1194+11C= (n.1194+11C=)
c.193+11C=
2g.188994093C>GCA2662288831COL3A1c.1095+11C>G (n.1095+11C>G)
c.1194+11C>G (n.1194+11C>G)
c.193+11C>G
 gnomAD v4
2g.188994093C>TCA073913COL3A1c.1095+11C>T (n.1095+11C>T)
c.1194+11C>T (n.1194+11C>T)
c.193+11C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994094C=CA1315398361COL3A1c.1095+12C= (n.1095+12C=)
c.1194+12C= (n.1194+12C=)
c.193+12C=
2g.188994094C>TCA538441239COL3A1c.1095+12C>T (n.1095+12C>T)
c.1194+12C>T (n.1194+12C>T)
c.193+12C>T
 dbSNP gnomAD v2 gnomAD v4
2g.188994095C>ACA2577185352COL3A1c.1095+13C>A (n.1095+13C>A)
c.1194+13C>A (n.1194+13C>A)
c.193+13C>A
2g.188994096A>TCA2662288832COL3A1c.1095+14A>T (n.1095+14A>T)
c.1194+14A>T (n.1194+14A>T)
c.193+14A>T
 gnomAD v4
2g.188994097C=CA1315398362COL3A1c.1095+15C= (n.1095+15C=)
c.1194+15C= (n.1194+15C=)
c.193+15C=
2g.188994097C>GCA2580065337COL3A1c.1095+15C>G (n.1095+15C>G)
c.1194+15C>G (n.1194+15C>G)
c.193+15C>G
 ClinVar
2g.188994097C>TCA538441240COL3A1c.1095+15C>T (n.1095+15C>T)
c.1194+15C>T (n.1194+15C>T)
c.193+15C>T
 dbSNP gnomAD v2 gnomAD v4
2g.188994098T>GCA538441241COL3A1c.1095+16T>G (n.1095+16T>G)
c.1194+16T>G (n.1194+16T>G)
c.193+16T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188994098T=CA1315398363COL3A1c.1095+16T= (n.1095+16T=)
c.1194+16T= (n.1194+16T=)
c.193+16T=
2g.188994103A=CA1315398364COL3A1c.1095+21A= (n.1095+21A=)
c.1194+21A= (n.1194+21A=)
c.193+21A=
2g.188994103A>GCA1315398365COL3A1c.1095+21A>G (n.1095+21A>G)
c.1194+21A>G (n.1194+21A>G)
c.193+21A>G
 dbSNP

Number of alleles fetched