Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
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
2g.188994247T>CCA349851356COL3A1c.1109T>C (p.Ile370Thr)
c.1208T>C (p.Ile403Thr)
c.207T>C
 gnomAD v4
2g.188994247T>GCA349851358COL3A1c.1109T>G (p.Ile370Ser)
c.1208T>G (p.Ile403Ser)
c.207T>G
2g.188994248T>ACA430309443COL3A1c.1110T>A (p.Ile370=)
c.1209T>A (p.Ile403=)
c.208T>A
2g.188994248T>CCA430309444COL3A1c.1110T>C (p.Ile370=)
c.1209T>C (p.Ile403=)
c.208T>C
2g.188994248T>GCA349851359COL3A1c.1110T>G (p.Ile370Met)
c.1209T>G (p.Ile403Met)
c.208T>G
2g.188994249C>ACA349851362COL3A1c.1111C>A (p.Pro371Thr)
c.1210C>A (p.Pro404Thr)
c.209C>A
2g.188994249C>GCA349851360COL3A1c.1111C>G (p.Pro371Ala)
c.1210C>G (p.Pro404Ala)
c.209C>G
2g.188994249C>TCA349851361COL3A1c.1111C>T (p.Pro371Ser)
c.1210C>T (p.Pro404Ser)
c.209C>T
 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188994250C>ACA349851363COL3A1c.1112C>A (p.Pro371His)
c.1211C>A (p.Pro404His)
c.210C>A
2g.188994250C>GCA349851364COL3A1c.1112C>G (p.Pro371Arg)
c.1211C>G (p.Pro404Arg)
c.210C>G
2g.188994250C>TCA349851365COL3A1c.1112C>T (p.Pro371Leu)
c.1211C>T (p.Pro404Leu)
c.210C>T
2g.188994251T>ACA430309447COL3A1c.1113T>A (p.Pro371=)
c.1212T>A (p.Pro404=)
c.211T>A
2g.188994251T>CCA430309446COL3A1c.1113T>C (p.Pro371=)
c.1212T>C (p.Pro404=)
c.211T>C
2g.188994251T>GCA430309445COL3A1c.1113T>G (p.Pro371=)
c.1212T>G (p.Pro404=)
c.211T>G
2g.188994252G>ACA349851366COL3A1c.1114G>A (p.Gly372Arg)
c.1213G>A (p.Gly405Arg)
c.212G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994252G>CCA349851367COL3A1c.1114G>C (p.Gly372Arg)
c.1213G>C (p.Gly405Arg)
c.212G>C
2g.188994252G=CA1315398434COL3A1c.1114G= (p.Gly372=)
c.1213G= (p.Gly405=)
c.212G=
2g.188994252G>TCA349851368COL3A1c.1114G>T (p.Gly372Ter)
c.1213G>T (p.Gly405Ter)
c.212G>T
2g.188994253G>ACA349851369COL3A1c.1115G>A (p.Gly372Glu)
c.1214G>A (p.Gly405Glu)
c.213G>A
 COSMIC
2g.188994253G>CCA349851371COL3A1c.1115G>C (p.Gly372Ala)
c.1214G>C (p.Gly405Ala)
c.213G>C
 gnomAD v4
2g.188994253G>TCA349851372COL3A1c.1115G>T (p.Gly372Val)
c.1214G>T (p.Gly405Val)
c.213G>T
2g.188994254A>CCA430309448COL3A1c.1116A>C (p.Gly372=)
c.1215A>C (p.Gly405=)
c.214A>C
2g.188994254A>GCA430309449COL3A1c.1116A>G (p.Gly372=)
c.1215A>G (p.Gly405=)
c.214A>G
2g.188994254A>TCA430309450COL3A1c.1116A>T (p.Gly372=)
c.1215A>T (p.Gly405=)
c.214A>T
2g.188994255G>ACA349851373COL3A1c.1117G>A (p.Ala373Thr)
c.1216G>A (p.Ala406Thr)
c.215G>A
 dbSNP gnomAD v3 gnomAD v4
2g.188994255G>CCA349851374COL3A1c.1117G>C (p.Ala373Pro)
c.1216G>C (p.Ala406Pro)
c.215G>C
 ClinVar dbSNP
2g.188994255G=CA1315398435COL3A1c.1117G= (p.Ala373=)
c.1216G= (p.Ala406=)
c.215G=
2g.188994255G>TCA349851376COL3A1c.1117G>T (p.Ala373Ser)
c.1216G>T (p.Ala406Ser)
c.215G>T
 gnomAD v4
2g.188994256C>ACA349851377COL3A1c.1118C>A (p.Ala373Asp)
c.1217C>A (p.Ala406Asp)
c.216C>A
2g.188994256C>GCA349851379COL3A1c.1118C>G (p.Ala373Gly)
c.1217C>G (p.Ala406Gly)
c.216C>G
2g.188994256C>TCA349851378COL3A1c.1118C>T (p.Ala373Val)
c.1217C>T (p.Ala406Val)
c.216C>T
2g.188994257T>ACA430309451COL3A1c.1119T>A (p.Ala373=)
c.1218T>A (p.Ala406=)
c.217T>A
 gnomAD v4
2g.188994257T>CCA430309452COL3A1c.1119T>C (p.Ala373=)
c.1218T>C (p.Ala406=)
c.217T>C
2g.188994257T>GCA430309453COL3A1c.1119T>G (p.Ala373=)
c.1218T>G (p.Ala406=)
c.217T>G
 gnomAD v4
2g.188994258C>ACA349851381COL3A1c.1120C>A (p.Pro374Thr)
c.1219C>A (p.Pro407Thr)
c.218C>A
2g.188994258C>GCA349851382COL3A1c.1120C>G (p.Pro374Ala)
c.1219C>G (p.Pro407Ala)
c.218C>G
2g.188994258C>TCA349851383COL3A1c.1120C>T (p.Pro374Ser)
c.1219C>T (p.Pro407Ser)
c.218C>T
 COSMIC COSMIC
2g.188994259C>ACA349851384COL3A1c.1121C>A (p.Pro374His)
c.1220C>A (p.Pro407His)
c.219C>A
2g.188994259C>GCA349851385COL3A1c.1121C>G (p.Pro374Arg)
c.1220C>G (p.Pro407Arg)
c.219C>G
2g.188994259C>TCA349851386COL3A1c.1121C>T (p.Pro374Leu)
c.1220C>T (p.Pro407Leu)
c.219C>T
 dbSNP
2g.188994260T>ACA430309454COL3A1c.1122T>A (p.Pro374=)
c.1221T>A (p.Pro407=)
c.220T>A
2g.188994260T>CCA430309455COL3A1c.1122T>C (p.Pro374=)
c.1221T>C (p.Pro407=)
c.220T>C
 gnomAD v4
2g.188994260T>GCA430309456COL3A1c.1122T>G (p.Pro374=)
c.1221T>G (p.Pro407=)
c.220T>G
2g.188994261G>ACA16617390COL3A1c.1123G>A (p.Gly375Arg)
c.1222G>A (p.Gly408Arg)
c.221G>A
 ClinVar dbSNP
2g.188994261G>CCA349851388COL3A1c.1123G>C (p.Gly375Arg)
c.1222G>C (p.Gly408Arg)
c.221G>C
2g.188994261G=CA1315398436COL3A1c.1123G= (p.Gly375=)
c.1222G= (p.Gly408=)
c.221G=
2g.188994261G>TCA349851389COL3A1c.1123G>T (p.Gly375Ter)
c.1222G>T (p.Gly408Ter)
c.221G>T
2g.188994262G>ACA004140COL3A1c.1124G>A (p.Gly375Glu)
c.1223G>A (p.Gly408Glu)
c.222G>A
 ClinVar dbSNP
2g.188994262G>CCA349851391COL3A1c.1124G>C (p.Gly375Ala)
c.1223G>C (p.Gly408Ala)
c.222G>C
2g.188994262G=CA1315398437COL3A1c.1124G= (p.Gly375=)
c.1223G= (p.Gly408=)
c.222G=
2g.188994262G>TCA349851392COL3A1c.1124G>T (p.Gly375Val)
c.1223G>T (p.Gly408Val)
c.222G>T
 ClinVar dbSNP
2g.188994263A>CCA430309457COL3A1c.1125A>C (p.Gly375=)
c.1224A>C (p.Gly408=)
c.223A>C
 ClinVar dbSNP
2g.188994263A>GCA430309458COL3A1c.1125A>G (p.Gly375=)
c.1224A>G (p.Gly408=)
c.223A>G
2g.188994263A>TCA430309459COL3A1c.1125A>T (p.Gly375=)
c.1224A>T (p.Gly408=)
c.223A>T
2g.188994264C>ACA349851393COL3A1c.1126C>A (p.Leu376Met)
c.1225C>A (p.Leu409Met)
c.224C>A
 dbSNP gnomAD v3 gnomAD v4
2g.188994264C=CA1315398438COL3A1c.1126C= (p.Leu376=)
c.1225C= (p.Leu409=)
c.224C=
2g.188994264C>GCA62595242COL3A1c.1126C>G (p.Leu376Val)
c.1225C>G (p.Leu409Val)
c.224C>G
 ClinVar dbSNP gnomAD v4
2g.188994264C>TCA430309460COL3A1c.1126C>T (p.Leu376=)
c.1225C>T (p.Leu409=)
c.224C>T
 gnomAD v4
2g.188994265T>ACA349851395COL3A1c.1127T>A (p.Leu376Gln)
c.1226T>A (p.Leu409Gln)
c.225T>A
2g.188994265T>CCA349851396COL3A1c.1127T>C (p.Leu376Pro)
c.1226T>C (p.Leu409Pro)
c.225T>C
2g.188994265T>GCA349851397COL3A1c.1127T>G (p.Leu376Arg)
c.1226T>G (p.Leu409Arg)
c.225T>G
2g.188994266G>ACA430309461COL3A1c.1128G>A (p.Leu376=)
c.1227G>A (p.Leu409=)
c.226G>A
2g.188994266G>CCA430309462COL3A1c.1128G>C (p.Leu376=)
c.1227G>C (p.Leu409=)
c.226G>C
2g.188994266G=CA1315398439COL3A1c.1128G= (p.Leu376=)
c.1227G= (p.Leu409=)
c.226G=
2g.188994266G>TCA430309463COL3A1c.1128G>T (p.Leu376=)
c.1227G>T (p.Leu409=)
c.226G>T
 dbSNP gnomAD v2 gnomAD v4
2g.188994267A=CA1315398440COL3A1c.1129A= (p.Met377=)
c.1228A= (p.Met410=)
c.227A=
2g.188994267A>CCA349851398COL3A1c.1129A>C (p.Met377Leu)
c.1228A>C (p.Met410Leu)
c.227A>C
2g.188994267A>GCA074000COL3A1c.1129A>G (p.Met377Val)
c.1228A>G (p.Met410Val)
c.227A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994267A>TCA349851399COL3A1c.1129A>T (p.Met377Leu)
c.1228A>T (p.Met410Leu)
c.227A>T
2g.188994268T>ACA349851400COL3A1c.1130T>A (p.Met377Lys)
c.1229T>A (p.Met410Lys)
c.228T>A
2g.188994268T>CCA349851401COL3A1c.1130T>C (p.Met377Thr)
c.1229T>C (p.Met410Thr)
c.228T>C
 ClinVar dbSNP COSMIC COSMIC
2g.188994268T>GCA349851403COL3A1c.1130T>G (p.Met377Arg)
c.1229T>G (p.Met410Arg)
c.228T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994268T=CA1315398441COL3A1c.1130T= (p.Met377=)
c.1229T= (p.Met410=)
c.228T=
2g.188994269G>ACA349851404COL3A1c.1131G>A (p.Met377Ile)
c.1230G>A (p.Met410Ile)
c.229G>A
2g.188994269G>CCA349851405COL3A1c.1131G>C (p.Met377Ile)
c.1230G>C (p.Met410Ile)
c.229G>C
2g.188994269G>TCA349851406COL3A1c.1131G>T (p.Met377Ile)
c.1230G>T (p.Met410Ile)
c.229G>T
 ClinVar dbSNP
2g.188994270G>ACA349851408COL3A1c.1132G>A (p.Gly378Arg)
c.1231G>A (p.Gly411Arg)
c.230G>A
2g.188994270G>CCA004145COL3A1c.1132G>C (p.Gly378Arg)
c.1231G>C (p.Gly411Arg)
c.230G>C
 ClinVar dbSNP
2g.188994270G=CA1315398442COL3A1c.1132G= (p.Gly378=)
c.1231G= (p.Gly411=)
c.230G=
2g.188994270G>TCA349851407COL3A1c.1132G>T (p.Gly378Ter)
c.1231G>T (p.Gly411Ter)
c.230G>T
2g.188994271G>ACA10587526COL3A1c.1133G>A (p.Gly378Glu)
c.1232G>A (p.Gly411Glu)
c.231G>A
 ClinVar dbSNP
2g.188994271G>CCA349851411COL3A1c.1133G>C (p.Gly378Ala)
c.1232G>C (p.Gly411Ala)
c.231G>C
2g.188994271G=CA1315398443COL3A1c.1133G= (p.Gly378=)
c.1232G= (p.Gly411=)
c.231G=
2g.188994271G>TCA349851410COL3A1c.1133G>T (p.Gly378Val)
c.1232G>T (p.Gly411Val)
c.231G>T
 gnomAD v4
2g.188994272A=CA1315398444COL3A1c.1134A= (p.Gly378=)
c.1233A= (p.Gly411=)
c.232A=
2g.188994272A>CCA430309465COL3A1c.1134A>C (p.Gly378=)
c.1233A>C (p.Gly411=)
c.232A>C
2g.188994272A>GCA430309464COL3A1c.1134A>G (p.Gly378=)
c.1233A>G (p.Gly411=)
c.232A>G
 dbSNP gnomAD v2
2g.188994272A>TCA074005COL3A1c.1134A>T (p.Gly378=)
c.1233A>T (p.Gly411=)
c.232A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994273G>ACA349851416COL3A1c.1135G>A (p.Ala379Thr)
c.1234G>A (p.Ala412Thr)
c.233G>A
 dbSNP gnomAD v4
2g.188994273G>CCA349851413COL3A1c.1135G>C (p.Ala379Pro)
c.1234G>C (p.Ala412Pro)
c.233G>C
2g.188994273G=CA1315398445COL3A1c.1135G= (p.Ala379=)
c.1234G= (p.Ala412=)
c.233G=
2g.188994273G>TCA004150COL3A1c.1135G>T (p.Ala379Ser)
c.1234G>T (p.Ala412Ser)
c.233G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994274C>ACA62595297COL3A1c.1136C>A (p.Ala379Asp)
c.1235C>A (p.Ala412Asp)
c.234C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994274C=CA1315398446COL3A1c.1136C= (p.Ala379=)
c.1235C= (p.Ala412=)
c.234C=
2g.188994274C>GCA349851417COL3A1c.1136C>G (p.Ala379Gly)
c.1235C>G (p.Ala412Gly)
c.234C>G
2g.188994274C>TCA16043988COL3A1c.1136C>T (p.Ala379Val)
c.1235C>T (p.Ala412Val)
c.234C>T
 ClinVar dbSNP gnomAD v4
2g.188994275C>ACA430309466COL3A1c.1137C>A (p.Ala379=)
c.1236C>A (p.Ala412=)
c.235C>A
2g.188994275C>GCA430309467COL3A1c.1137C>G (p.Ala379=)
c.1236C>G (p.Ala412=)
c.235C>G
2g.188994275C>TCA430309468COL3A1c.1137C>T (p.Ala379=)
c.1236C>T (p.Ala412=)
c.235C>T
2g.188994276C>ACA074015COL3A1c.1138C>A (p.Arg380=)
c.1237C>A (p.Arg413=)
c.236C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994276C=CA1315398447COL3A1c.1138C= (p.Arg380=)
c.1237C= (p.Arg413=)
c.236C=
2g.188994276C>GCA349851420COL3A1c.1138C>G (p.Arg380Gly)
c.1237C>G (p.Arg413Gly)
c.236C>G
2g.188994276C>TCA349851421COL3A1c.1138C>T (p.Arg380Trp)
c.1237C>T (p.Arg413Trp)
c.236C>T
 ClinVar gnomAD v4
2g.188994277G>ACA074019COL3A1c.1139G>A (p.Arg380Gln)
c.1238G>A (p.Arg413Gln)
c.237G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188994277G>CCA349851424COL3A1c.1139G>C (p.Arg380Pro)
c.1238G>C (p.Arg413Pro)
c.237G>C
2g.188994277G=CA1315398448COL3A1c.1139G= (p.Arg380=)
c.1238G= (p.Arg413=)
c.237G=
2g.188994277G>TCA349851426COL3A1c.1139G>T (p.Arg380Leu)
c.1238G>T (p.Arg413Leu)
c.237G>T
2g.188994278G>ACA430309470COL3A1c.1140G>A (p.Arg380=)
c.1239G>A (p.Arg413=)
c.238G>A
 ClinVar dbSNP
2g.188994278G>CCA074023COL3A1c.1140G>C (p.Arg380=)
c.1239G>C (p.Arg413=)
c.238G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994278G=CA1315398449COL3A1c.1140G= (p.Arg380=)
c.1239G= (p.Arg413=)
c.238G=
2g.188994278G>TCA430309469COL3A1c.1140G>T (p.Arg380=)
c.1239G>T (p.Arg413=)
c.238G>T
2g.188994279G>ACA349851430COL3A1c.1141G>A (p.Gly381Ser)
c.1240G>A (p.Gly414Ser)
c.239G>A
 ClinVar
2g.188994279G>CCA349851428COL3A1c.1141G>C (p.Gly381Arg)
c.1240G>C (p.Gly414Arg)
c.239G>C
2g.188994279G=CA1315398450COL3A1c.1141G= (p.Gly381=)
c.1240G= (p.Gly414=)
c.239G=
2g.188994279G>TCA004154COL3A1c.1141G>T (p.Gly381Cys)
c.1240G>T (p.Gly414Cys)
c.239G>T
 ClinVar dbSNP
2g.188994280G>ACA10587529COL3A1c.1142G>A (p.Gly381Asp)
c.1241G>A (p.Gly414Asp)
c.240G>A
 ClinVar dbSNP
2g.188994280G>CCA349851431COL3A1c.1142G>C (p.Gly381Ala)
c.1241G>C (p.Gly414Ala)
c.240G>C
2g.188994280G=CA1315398451COL3A1c.1142G= (p.Gly381=)
c.1241G= (p.Gly414=)
c.240G=
2g.188994280G>TCA004160COL3A1c.1142G>T (p.Gly381Val)
c.1241G>T (p.Gly414Val)
c.240G>T
 ClinVar dbSNP
2g.188994281T>ACA430309471COL3A1c.1143T>A (p.Gly381=)
c.1242T>A (p.Gly414=)
c.241T>A
2g.188994281T>CCA430309472COL3A1c.1143T>C (p.Gly381=)
c.1242T>C (p.Gly414=)
c.241T>C
2g.188994281T>GCA430309473COL3A1c.1143T>G (p.Gly381=)
c.1242T>G (p.Gly414=)
c.241T>G
2g.188994282C>ACA349851433COL3A1c.1144C>A (p.Pro382Thr)
c.1243C>A (p.Pro415Thr)
c.242C>A
2g.188994282C>GCA349851435COL3A1c.1144C>G (p.Pro382Ala)
c.1243C>G (p.Pro415Ala)
c.242C>G
2g.188994282C>TCA349851436COL3A1c.1144C>T (p.Pro382Ser)
c.1243C>T (p.Pro415Ser)
c.242C>T
 dbSNP
2g.188994283C>ACA349851437COL3A1c.1145C>A (p.Pro382His)
c.1244C>A (p.Pro415His)
c.243C>A
 ClinVar dbSNP
2g.188994283C=CA1315398452COL3A1c.1145C= (p.Pro382=)
c.1244C= (p.Pro415=)
c.243C=
2g.188994283C>GCA349851438COL3A1c.1145C>G (p.Pro382Arg)
c.1244C>G (p.Pro415Arg)
c.243C>G
2g.188994283C>TCA349851439COL3A1c.1145C>T (p.Pro382Leu)
c.1244C>T (p.Pro415Leu)
c.243C>T
 dbSNP gnomAD v2 gnomAD v4
2g.188994284T>ACA430309474COL3A1c.1146T>A (p.Pro382=)
c.1245T>A (p.Pro415=)
c.244T>A
2g.188994284T>CCA074032COL3A1c.1146T>C (p.Pro382=)
c.1245T>C (p.Pro415=)
c.244T>C
 dbSNP ExAC
2g.188994284T>GCA430309475COL3A1c.1146T>G (p.Pro382=)
c.1245T>G (p.Pro415=)
c.244T>G
2g.188994284T=CA1315398453COL3A1c.1146T= (p.Pro382=)
c.1245T= (p.Pro415=)
c.244T=
2g.188994285C>ACA349851445COL3A1c.1147C>A (p.Pro383Thr)
c.1246C>A (p.Pro416Thr)
c.245C>A
 gnomAD v4
2g.188994285C>GCA349851443COL3A1c.1147C>G (p.Pro383Ala)
c.1246C>G (p.Pro416Ala)
c.245C>G
2g.188994285C>TCA349851442COL3A1c.1147C>T (p.Pro383Ser)
c.1246C>T (p.Pro416Ser)
c.245C>T
 COSMIC COSMIC
2g.188994286C>ACA074037COL3A1c.1148C>A (p.Pro383Gln)
c.1247C>A (p.Pro416Gln)
c.246C>A
 dbSNP ExAC
2g.188994286C=CA1315398454COL3A1c.1148C= (p.Pro383=)
c.1247C= (p.Pro416=)
c.246C=
2g.188994286C>GCA349851448COL3A1c.1148C>G (p.Pro383Arg)
c.1247C>G (p.Pro416Arg)
c.246C>G
2g.188994286C>TCA349851450COL3A1c.1148C>T (p.Pro383Leu)
c.1247C>T (p.Pro416Leu)
c.246C>T
2g.188994287A=CA1315398455COL3A1c.1149A= (p.Pro383=)
c.1248A= (p.Pro416=)
c.247A=
2g.188994287A>CCA430309476COL3A1c.1149A>C (p.Pro383=)
c.1248A>C (p.Pro416=)
c.247A>C
2g.188994287A>GCA074042COL3A1c.1149A>G (p.Pro383=)
c.1248A>G (p.Pro416=)
c.247A>G
 dbSNP ExAC gnomAD v4
2g.188994287A>TCA430309477COL3A1c.1149A>T (p.Pro383=)
c.1248A>T (p.Pro416=)
c.247A>T
2g.188994288G>ACA004166COL3A1c.1150G>A (p.Gly384Arg)
c.1249G>A (p.Gly417Arg)
c.248G>A
 ClinVar dbSNP
2g.188994288G>CCA349851452COL3A1c.1150G>C (p.Gly384Arg)
c.1249G>C (p.Gly417Arg)
c.248G>C
 ClinVar dbSNP
2g.188994288G=CA1315398456COL3A1c.1150G= (p.Gly384=)
c.1249G= (p.Gly417=)
c.248G=
2g.188994288G>TCA349851454COL3A1c.1150G>T (p.Gly384Ter)
c.1249G>T (p.Gly417Ter)
c.248G>T
2g.188994289G>ACA349851455COL3A1c.1151G>A (p.Gly384Glu)
c.1250G>A (p.Gly417Glu)
c.249G>A
2g.188994289G>CCA074045COL3A1c.1151G>C (p.Gly384Ala)
c.1250G>C (p.Gly417Ala)
c.249G>C
 dbSNP ExAC
2g.188994289G=CA1315398457COL3A1c.1151G= (p.Gly384=)
c.1250G= (p.Gly417=)
c.249G=
2g.188994289G>TCA349851457COL3A1c.1151G>T (p.Gly384Val)
c.1250G>T (p.Gly417Val)
c.249G>T
 gnomAD v4
2g.188994290A=CA1315398458COL3A1c.1152A= (p.Gly384=)
c.1251A= (p.Gly417=)
c.250A=
2g.188994290A>CCA074048COL3A1c.1152A>C (p.Gly384=)
c.1251A>C (p.Gly417=)
c.250A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994290A>GCA430309478COL3A1c.1152A>G (p.Gly384=)
c.1251A>G (p.Gly417=)
c.250A>G
2g.188994290A>TCA430309479COL3A1c.1152A>T (p.Gly384=)
c.1251A>T (p.Gly417=)
c.250A>T
2g.188994291C>ACA349851463COL3A1c.1153C>A (p.Pro385Thr)
c.1252C>A (p.Pro418Thr)
c.251C>A
2g.188994291C>GCA349851461COL3A1c.1153C>G (p.Pro385Ala)
c.1252C>G (p.Pro418Ala)
c.251C>G
2g.188994291C>TCA349851459COL3A1c.1153C>T (p.Pro385Ser)
c.1252C>T (p.Pro418Ser)
c.251C>T
2g.188994292C>ACA349851465COL3A1c.1154C>A (p.Pro385Gln)
c.1253C>A (p.Pro418Gln)
c.252C>A
 dbSNP
2g.188994292C=CA1315398459COL3A1c.1154C= (p.Pro385=)
c.1253C= (p.Pro418=)
c.252C=
2g.188994292C>GCA349851467COL3A1c.1154C>G (p.Pro385Arg)
c.1253C>G (p.Pro418Arg)
c.252C>G
2g.188994292C>TCA349851468COL3A1c.1154C>T (p.Pro385Leu)
c.1253C>T (p.Pro418Leu)
c.252C>T
 gnomAD v4
2g.188994293A>CCA430309482COL3A1c.1155A>C (p.Pro385=)
c.1254A>C (p.Pro418=)
c.253A>C
2g.188994293A>GCA430309480COL3A1c.1155A>G (p.Pro385=)
c.1254A>G (p.Pro418=)
c.253A>G
 ClinVar dbSNP
2g.188994293A>TCA430309481COL3A1c.1155A>T (p.Pro385=)
c.1254A>T (p.Pro418=)
c.253A>T
2g.188994294G>ACA349851469COL3A1c.1156G>A (p.Ala386Thr)
c.1255G>A (p.Ala419Thr)
c.254G>A
2g.188994294G>CCA349851470COL3A1c.1156G>C (p.Ala386Pro)
c.1255G>C (p.Ala419Pro)
c.254G>C
2g.188994294G>TCA349851472COL3A1c.1156G>T (p.Ala386Ser)
c.1255G>T (p.Ala419Ser)
c.254G>T
2g.188994295C>ACA349851474COL3A1c.1157C>A (p.Ala386Asp)
c.1256C>A (p.Ala419Asp)
c.255C>A
2g.188994295C>GCA349851480COL3A1c.1157C>G (p.Ala386Gly)
c.1256C>G (p.Ala419Gly)
c.255C>G
2g.188994295C>TCA349851481COL3A1c.1157C>T (p.Ala386Val)
c.1256C>T (p.Ala419Val)
c.255C>T
 COSMIC
2g.188994296C>ACA430309483COL3A1c.1158C>A (p.Ala386=)
c.1257C>A (p.Ala419=)
c.256C>A
2g.188994296C=CA1315398460COL3A1c.1158C= (p.Ala386=)
c.1257C= (p.Ala419=)
c.256C=
2g.188994296C>GCA430309484COL3A1c.1158C>G (p.Ala386=)
c.1257C>G (p.Ala419=)
c.256C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188994296C>TCA004174COL3A1c.1158C>T (p.Ala386=)
c.1257C>T (p.Ala419=)
c.256C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994297G>ACA004179COL3A1c.1159G>A (p.Gly387Ser)
c.1258G>A (p.Gly420Ser)
c.257G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.188994297G>CCA349851484COL3A1c.1159G>C (p.Gly387Arg)
c.1258G>C (p.Gly420Arg)
c.257G>C
 dbSNP
2g.188994297G=CA1315398461COL3A1c.1159G= (p.Gly387=)
c.1258G= (p.Gly420=)
c.257G=
2g.188994297G>TCA349851486COL3A1c.1159G>T (p.Gly387Cys)
c.1258G>T (p.Gly420Cys)
c.257G>T
2g.188994298G>ACA349851490COL3A1c.1160G>A (p.Gly387Asp)
c.1259G>A (p.Gly420Asp)
c.258G>A
2g.188994298G>CCA349851492COL3A1c.1160G>C (p.Gly387Ala)
c.1259G>C (p.Gly420Ala)
c.258G>C
 gnomAD v4
2g.188994298G>TCA349851489COL3A1c.1160G>T (p.Gly387Val)
c.1259G>T (p.Gly420Val)
c.258G>T
2g.188994299T>ACA430309486COL3A1c.1161T>A (p.Gly387=)
c.1260T>A (p.Gly420=)
c.259T>A
2g.188994299T>CCA430309485COL3A1c.1161T>C (p.Gly387=)
c.1260T>C (p.Gly420=)
c.259T>C
2g.188994299T>GCA430309487COL3A1c.1161T>G (p.Gly387=)
c.1260T>G (p.Gly420=)
c.259T>G
2g.188994300G>ACA074055COL3A1c.1162G>A (p.Ala388Thr)
c.1261G>A (p.Ala421Thr)
c.260G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994300G>CCA349851495COL3A1c.1162G>C (p.Ala388Pro)
c.1261G>C (p.Ala421Pro)
c.260G>C
2g.188994300G=CA1315398462COL3A1c.1162G= (p.Ala388=)
c.1261G= (p.Ala421=)
c.260G=
2g.188994300G>TCA349851497COL3A1c.1162G>T (p.Ala388Ser)
c.1261G>T (p.Ala421Ser)
c.260G>T
2g.188994301C>ACA349851498COL3A1c.1163C>A (p.Ala388Asp)
c.1262C>A (p.Ala421Asp)
c.261C>A
2g.188994301C=CA1315398463COL3A1c.1163C= (p.Ala388=)
c.1262C= (p.Ala421=)
c.261C=
2g.188994301C>GCA074059COL3A1c.1163C>G (p.Ala388Gly)
c.1262C>G (p.Ala421Gly)
c.261C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994301C>TCA349851499COL3A1c.1163C>T (p.Ala388Val)
c.1262C>T (p.Ala421Val)
c.261C>T
 COSMIC COSMIC
2g.188994302T>ACA430309488COL3A1c.1164T>A (p.Ala388=)
c.1263T>A (p.Ala421=)
c.262T>A
2g.188994302T>CCA430309489COL3A1c.1164T>C (p.Ala388=)
c.1263T>C (p.Ala421=)
c.262T>C
2g.188994302T>GCA430309490COL3A1c.1164T>G (p.Ala388=)
c.1263T>G (p.Ala421=)
c.262T>G
 gnomAD v4
2g.188994303A=CA1315398464COL3A1c.1165A= (p.Asn389=)
c.1264A= (p.Asn422=)
c.263A=
2g.188994303A>CCA349851502COL3A1c.1165A>C (p.Asn389His)
c.1264A>C (p.Asn422His)
c.263A>C
2g.188994303A>GCA349851500COL3A1c.1165A>G (p.Asn389Asp)
c.1264A>G (p.Asn422Asp)
c.263A>G
 ClinVar dbSNP gnomAD v4
2g.188994303A>TCA349851501COL3A1c.1165A>T (p.Asn389Tyr)
c.1264A>T (p.Asn422Tyr)
c.263A>T
2g.188994304A=CA1315398465COL3A1c.1166A= (p.Asn389=)
c.1265A= (p.Asn422=)
c.264A=
2g.188994304A>CCA349851503COL3A1c.1166A>C (p.Asn389Thr)
c.1265A>C (p.Asn422Thr)
c.264A>C
2g.188994304A>GCA349851504COL3A1c.1166A>G (p.Asn389Ser)
c.1265A>G (p.Asn422Ser)
c.264A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188994304A>TCA349851505COL3A1c.1166A>T (p.Asn389Ile)
c.1265A>T (p.Asn422Ile)
c.264A>T
2g.188994305T>ACA349851506COL3A1c.1167T>A (p.Asn389Lys)
c.1266T>A (p.Asn422Lys)
c.265T>A
2g.188994305T>CCA430309491COL3A1c.1167T>C (p.Asn389=)
c.1266T>C (p.Asn422=)
c.265T>C
 gnomAD v4
2g.188994305T>GCA349851507COL3A1c.1167T>G (p.Asn389Lys)
c.1266T>G (p.Asn422Lys)
c.265T>G
2g.188994306G>ACA004186COL3A1c.1168G>A (p.Gly390Ser)
c.1267G>A (p.Gly423Ser)
c.266G>A
 ClinVar dbSNP
2g.188994306G>CCA349851508COL3A1c.1168G>C (p.Gly390Arg)
c.1267G>C (p.Gly423Arg)
c.266G>C
2g.188994306G=CA1315398466COL3A1c.1168G= (p.Gly390=)
c.1267G= (p.Gly423=)
c.266G=
2g.188994306G>TCA349851509COL3A1c.1168G>T (p.Gly390Cys)
c.1267G>T (p.Gly423Cys)
c.266G>T
2g.188994307G>ACA004193COL3A1c.1169G>A (p.Gly390Asp)
c.1268G>A (p.Gly423Asp)
c.267G>A
 ClinVar dbSNP
2g.188994307G>CCA349851510COL3A1c.1169G>C (p.Gly390Ala)
c.1268G>C (p.Gly423Ala)
c.267G>C
2g.188994307G=CA1315398467COL3A1c.1169G= (p.Gly390=)
c.1268G= (p.Gly423=)
c.267G=
2g.188994307G>TCA349851511COL3A1c.1169G>T (p.Gly390Val)
c.1268G>T (p.Gly423Val)
c.267G>T
2g.188994308T>ACA430309492COL3A1c.1170T>A (p.Gly390=)
c.1269T>A (p.Gly423=)
c.268T>A
2g.188994308T>CCA074062COL3A1c.1170T>C (p.Gly390=)
c.1269T>C (p.Gly423=)
c.268T>C
 dbSNP ExAC gnomAD v2
2g.188994308T>GCA430309493COL3A1c.1170T>G (p.Gly390=)
c.1269T>G (p.Gly423=)
c.268T>G
2g.188994308T=CA1315398468COL3A1c.1170T= (p.Gly390=)
c.1269T= (p.Gly423=)
c.268T=
2g.188994309G>ACA349851512COL3A1c.1171G>A (p.Ala391Thr)
c.1270G>A (p.Ala424Thr)
2g.188994309G>CCA349851513COL3A1c.1171G>C (p.Ala391Pro)
c.1270G>C (p.Ala424Pro)
 gnomAD v4
2g.188994309G=CA1315398469COL3A1c.1171G= (p.Ala391=)
c.1270G= (p.Ala424=)
2g.188994309G>TCA62595433COL3A1c.1171G>T (p.Ala391Ser)
c.1270G>T (p.Ala424Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994310C>ACA349851515COL3A1c.1172C>A (p.Ala391Asp)
c.1271C>A (p.Ala424Asp)
2g.188994310C>GCA349851517COL3A1c.1172C>G (p.Ala391Gly)
c.1271C>G (p.Ala424Gly)
2g.188994310C>TCA349851518COL3A1c.1172C>T (p.Ala391Val)
c.1271C>T (p.Ala424Val)
2g.188994311T>ACA430309494COL3A1c.1173T>A (p.Ala391=)
c.1272T>A (p.Ala424=)
 gnomAD v4
2g.188994311T>CCA430309495COL3A1c.1173T>C (p.Ala391=)
c.1272T>C (p.Ala424=)
2g.188994311T>GCA430309496COL3A1c.1173T>G (p.Ala391=)
c.1272T>G (p.Ala424=)
2g.188994312C>ACA349851520COL3A1c.1174C>A (p.Pro392Thr)
c.1273C>A (p.Pro425Thr)
2g.188994312C=CA1315398470COL3A1c.1174C= (p.Pro392=)
c.1273C= (p.Pro425=)
2g.188994312C>GCA62595442COL3A1c.1174C>G (p.Pro392Ala)
c.1273C>G (p.Pro425Ala)
 dbSNP
2g.188994312C>TCA349851522COL3A1c.1174C>T (p.Pro392Ser)
c.1273C>T (p.Pro425Ser)
2g.188994313C>ACA349851524COL3A1c.1175C>A (p.Pro392His)
c.1274C>A (p.Pro425His)
2g.188994313C>GCA349851527COL3A1c.1175C>G (p.Pro392Arg)
c.1274C>G (p.Pro425Arg)
2g.188994313C>TCA349851525COL3A1c.1175C>T (p.Pro392Leu)
c.1274C>T (p.Pro425Leu)
2g.188994314T>ACA430309497COL3A1c.1176T>A (p.Pro392=)
c.1275T>A (p.Pro425=)
 ClinVar dbSNP gnomAD v4
2g.188994314T>CCA430309498COL3A1c.1176T>C (p.Pro392=)
c.1275T>C (p.Pro425=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994314T>GCA430309499COL3A1c.1176T>G (p.Pro392=)
c.1275T>G (p.Pro425=)
2g.188994314T=CA1315398471COL3A1c.1176T= (p.Pro392=)
c.1275T= (p.Pro425=)
2g.188994315G>ACA349851529COL3A1c.1177G>A (p.Gly393Arg)
c.1276G>A (p.Gly426Arg)
2g.188994315G>CCA349851531COL3A1c.1177G>C (p.Gly393Arg)
c.1276G>C (p.Gly426Arg)
2g.188994315G>TCA349851532COL3A1c.1177G>T (p.Gly393Ter)
c.1276G>T (p.Gly426Ter)
2g.188994316G>ACA349851534COL3A1c.1178G>A (p.Gly393Glu)
c.1277G>A (p.Gly426Glu)
 ClinVar dbSNP
2g.188994316G>CCA349851536COL3A1c.1178G>C (p.Gly393Ala)
c.1277G>C (p.Gly426Ala)
 dbSNP
2g.188994316G>TCA349851537COL3A1c.1178G>T (p.Gly393Val)
c.1277G>T (p.Gly426Val)
2g.188994317A>CCA430309500COL3A1c.1179A>C (p.Gly393=)
c.1278A>C (p.Gly426=)
2g.188994317A>GCA430309501COL3A1c.1179A>G (p.Gly393=)
c.1278A>G (p.Gly426=)
 gnomAD v4
2g.188994317A>TCA430309502COL3A1c.1179A>T (p.Gly393=)
c.1278A>T (p.Gly426=)
2g.188994318C>ACA349851539COL3A1c.1180C>A (p.Leu394Met)
c.1279C>A (p.Leu427Met)
2g.188994318C>GCA349851540COL3A1c.1180C>G (p.Leu394Val)
c.1279C>G (p.Leu427Val)
2g.188994318C>TCA430309503COL3A1c.1180C>T (p.Leu394=)
c.1279C>T (p.Leu427=)
2g.188994319T>ACA349851542COL3A1c.1181T>A (p.Leu394Gln)
c.1280T>A (p.Leu427Gln)
 ClinVar
2g.188994319T>CCA349851543COL3A1c.1181T>C (p.Leu394Pro)
c.1280T>C (p.Leu427Pro)
2g.188994319T>GCA349851544COL3A1c.1181T>G (p.Leu394Arg)
c.1280T>G (p.Leu427Arg)
2g.188994320G>ACA074066COL3A1c.1182G>A (p.Leu394=)
c.1281G>A (p.Leu427=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994320G>CCA430309504COL3A1c.1182G>C (p.Leu394=)
c.1281G>C (p.Leu427=)
2g.188994320G=CA1315398472COL3A1c.1182G= (p.Leu394=)
c.1281G= (p.Leu427=)
2g.188994320G>TCA074068COL3A1c.1182G>T (p.Leu394=)
c.1281G>T (p.Leu427=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994321C>ACA430309505COL3A1c.1183C>A (p.Arg395=)
c.1282C>A (p.Arg428=)
 gnomAD v4
2g.188994321C=CA1315398473COL3A1c.1183C= (p.Arg395=)
c.1282C= (p.Arg428=)
2g.188994321C>GCA349851546COL3A1c.1183C>G (p.Arg395Gly)
c.1282C>G (p.Arg428Gly)
2g.188994321C>TCA349851545COL3A1c.1183C>T (p.Arg395Ter)
c.1282C>T (p.Arg428Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.188994322G>ACA62595449COL3A1c.1184G>A (p.Arg395Gln)
c.1283G>A (p.Arg428Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188994322G>CCA349851547COL3A1c.1184G>C (p.Arg395Pro)
c.1283G>C (p.Arg428Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.188994322G=CA1315398474COL3A1c.1184G= (p.Arg395=)
c.1283G= (p.Arg428=)
2g.188994322G>TCA349851549COL3A1c.1184G>T (p.Arg395Leu)
c.1283G>T (p.Arg428Leu)
 gnomAD v4
2g.188994323A=CA1315398475COL3A1c.1185A= (p.Arg395=)
c.1284A= (p.Arg428=)
2g.188994323A>CCA430309506COL3A1c.1185A>C (p.Arg395=)
c.1284A>C (p.Arg428=)
2g.188994323A>GCA430309507COL3A1c.1185A>G (p.Arg395=)
c.1284A>G (p.Arg428=)
2g.188994323A>TCA074074COL3A1c.1185A>T (p.Arg395=)
c.1284A>T (p.Arg428=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994324G>ACA349851552COL3A1c.1186G>A (p.Gly396Ser)
c.1285G>A (p.Gly429Ser)
 ClinVar dbSNP
2g.188994324G>CCA349851554COL3A1c.1186G>C (p.Gly396Arg)
c.1285G>C (p.Gly429Arg)
2g.188994324G=CA1315398476COL3A1c.1186G= (p.Gly396=)
c.1285G= (p.Gly429=)
2g.188994324G>TCA349851556COL3A1c.1186G>T (p.Gly396Cys)
c.1285G>T (p.Gly429Cys)
2g.188994325G>ACA349851557COL3A1c.1187G>A (p.Gly396Asp)
c.1286G>A (p.Gly429Asp)
2g.188994325G>CCA349851559COL3A1c.1187G>C (p.Gly396Ala)
c.1286G>C (p.Gly429Ala)
2g.188994325G>TCA349851560COL3A1c.1187G>T (p.Gly396Val)
c.1286G>T (p.Gly429Val)
2g.188994326T>ACA430309508COL3A1c.1188T>A (p.Gly396=)
c.1287T>A (p.Gly429=)
2g.188994326T>CCA430309509COL3A1c.1188T>C (p.Gly396=)
c.1287T>C (p.Gly429=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994326T>GCA430309510COL3A1c.1188T>G (p.Gly396=)
c.1287T>G (p.Gly429=)
2g.188994326T=CA1315398477COL3A1c.1188T= (p.Gly396=)
c.1287T= (p.Gly429=)
2g.188994327G>ACA349851562COL3A1c.1189G>A (p.Gly397Ser)
c.1288G>A (p.Gly430Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994327G>CCA349851564COL3A1c.1189G>C (p.Gly397Arg)
c.1288G>C (p.Gly430Arg)
2g.188994327G=CA1315398478COL3A1c.1189G= (p.Gly397=)
c.1288G= (p.Gly430=)
2g.188994327G>TCA349851565COL3A1c.1189G>T (p.Gly397Cys)
c.1288G>T (p.Gly430Cys)
2g.188994328G>ACA349851569COL3A1c.1190G>A (p.Gly397Asp)
c.1289G>A (p.Gly430Asp)
 gnomAD v4
2g.188994328G>CCA349851568COL3A1c.1190G>C (p.Gly397Ala)
c.1289G>C (p.Gly430Ala)
 gnomAD v4
2g.188994328G=CA1315398479COL3A1c.1190G= (p.Gly397=)
c.1289G= (p.Gly430=)
2g.188994328G>TCA349851567COL3A1c.1190G>T (p.Gly397Val)
c.1289G>T (p.Gly430Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994329T>ACA430309511COL3A1c.1191T>A (p.Gly397=)
c.1290T>A (p.Gly430=)
2g.188994329T>CCA430309512COL3A1c.1191T>C (p.Gly397=)
c.1290T>C (p.Gly430=)
2g.188994329T>GCA430309513COL3A1c.1191T>G (p.Gly397=)
c.1290T>G (p.Gly430=)
2g.188994330G>ACA349851573COL3A1c.1192G>A (p.Ala398Thr)
c.1291G>A (p.Ala431Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.188994330G>CCA349851571COL3A1c.1192G>C (p.Ala398Pro)
c.1291G>C (p.Ala431Pro)
2g.188994330G=CA1315398480COL3A1c.1192G= (p.Ala398=)
c.1291G= (p.Ala431=)
2g.188994330G>TCA349851574COL3A1c.1192G>T (p.Ala398Ser)
c.1291G>T (p.Ala431Ser)
2g.188994331C>ACA349851576COL3A1c.1193C>A (p.Ala398Glu)
c.1292C>A (p.Ala431Glu)
2g.188994331C>GCA349851578COL3A1c.1193C>G (p.Ala398Gly)
c.1292C>G (p.Ala431Gly)
2g.188994331C>TCA349851577COL3A1c.1193C>T (p.Ala398Val)
c.1292C>T (p.Ala431Val)
2g.188994332A=CA1315398481COL3A1c.1194A= (p.Ala398=)
c.1293A= (p.Ala431=)
2g.188994332A>CCA430309516COL3A1c.1194A>C (p.Ala398=)
c.1293A>C (p.Ala431=)
 dbSNP gnomAD v3 gnomAD v4
2g.188994332A>GCA430309515COL3A1c.1194A>G (p.Ala398=)
c.1293A>G (p.Ala431=)
 dbSNP gnomAD v3 gnomAD v4
2g.188994332A>TCA430309514COL3A1c.1194A>T (p.Ala398=)
c.1293A>T (p.Ala431=)
2g.188994333G>ACA349851580COL3A1c.1194+1G>A (n.1194+1G>A)
c.1293+1G>A (n.1293+1G>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.188994333G>CCA349851581COL3A1c.1194+1G>C (n.1194+1G>C)
c.1293+1G>C (n.1293+1G>C)
2g.188994333G=CA1315398482COL3A1c.1194+1G= (n.1194+1G=)
c.1293+1G= (n.1293+1G=)
2g.188994333G>TCA349851582COL3A1c.1194+1G>T (n.1194+1G>T)
c.1293+1G>T (n.1293+1G>T)
2g.188994333dupCA2753572109COL3A1c.1194+1dup (n.1194+1dup)
c.1293+1dup (n.1293+1dup)
2g.188994334T>ACA349851583COL3A1c.1194+2T>A (n.1194+2T>A)
c.1293+2T>A (n.1293+2T>A)
2g.188994334T>CCA349851585COL3A1c.1194+2T>C (n.1194+2T>C)
c.1293+2T>C (n.1293+2T>C)
2g.188994334T>GCA349851587COL3A1c.1194+2T>G (n.1194+2T>G)
c.1293+2T>G (n.1293+2T>G)
2g.188994334_188994335insTTCA2577185364COL3A1c.1194+2_1194+3insTT (n.1194+2_1194+3insTT)
c.1293+2_1293+3insTT (n.1293+2_1293+3insTT)
2g.188994334dupCA2586965509COL3A1c.1194+2dup (n.1194+2dup)
c.1293+2dup (n.1293+2dup)
2g.188994334_188994335insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCGCA2753572110COL3A1c.1194+2_1194+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG (n.1194+2_1194+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG)
c.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG (n.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG)
2g.188994336A=CA1315398483COL3A1c.1194+4A= (n.1194+4A=)
c.1293+4A= (n.1293+4A=)
2g.188994336A>GCA1315398484COL3A1c.1194+4A>G (n.1194+4A>G)
c.1293+4A>G (n.1293+4A>G)
 dbSNP gnomAD v4
2g.188994341C>TCA2662288938COL3A1c.1194+9C>T (n.1194+9C>T)
c.1293+9C>T (n.1293+9C>T)
 gnomAD v4

Number of alleles fetched