Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
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
 ClinVar
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
2g.188994342C>TCA2577185365COL3A1c.1194+10C>T (n.1194+10C>T)
c.1293+10C>T (n.1293+10C>T)
2g.188994343T>CCA1315398486COL3A1c.1194+11T>C (n.1194+11T>C)
c.1293+11T>C (n.1293+11T>C)
 dbSNP
2g.188994343T=CA1315398485COL3A1c.1194+11T= (n.1194+11T=)
c.1293+11T= (n.1293+11T=)
2g.188994345G>CCA074075COL3A1c.1194+13G>C (n.1194+13G>C)
c.1293+13G>C (n.1293+13G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994345G=CA1315398487COL3A1c.1194+13G= (n.1194+13G=)
c.1293+13G= (n.1293+13G=)
2g.188994345G>TCA2662288941COL3A1c.1194+13G>T (n.1194+13G>T)
c.1293+13G>T (n.1293+13G>T)
 gnomAD v4
2g.188994346T>CCA538441251COL3A1c.1194+14T>C (n.1194+14T>C)
c.1293+14T>C (n.1293+14T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.188994346T=CA1315398488COL3A1c.1194+14T= (n.1194+14T=)
c.1293+14T= (n.1293+14T=)
2g.188994351dupCA2662288943COL3A1c.1194+19dup (n.1194+19dup)
c.1293+19dup (n.1293+19dup)
 gnomAD v4
2g.188994351delCA2662288944COL3A1c.1194+19del (n.1194+19del)
c.1293+19del (n.1293+19del)
 gnomAD v4
2g.188994347T>ACA004199COL3A1c.1194+15T>A (n.1194+15T>A)
c.1293+15T>A (n.1293+15T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994347T>CCA1315398490COL3A1c.1194+15T>C (n.1194+15T>C)
c.1293+15T>C (n.1293+15T>C)
 dbSNP
2g.188994347T>GCA2581798782COL3A1c.1194+15T>G (n.1194+15T>G)
c.1293+15T>G (n.1293+15T>G)
2g.188994347T=CA1315398489COL3A1c.1194+15T= (n.1194+15T=)
c.1293+15T= (n.1293+15T=)
2g.188994348T>GCA2753572111COL3A1c.1194+16T>G (n.1194+16T>G)
c.1293+16T>G (n.1293+16T>G)
2g.188994351T>ACA538441252COL3A1c.1194+19T>A (n.1194+19T>A)
c.1293+19T>A (n.1293+19T>A)
 ClinVar dbSNP gnomAD v2
2g.188994351T=CA1315398491COL3A1c.1194+19T= (n.1194+19T=)
c.1293+19T= (n.1293+19T=)
2g.188994353T>ACA2662288949COL3A1c.1194+21T>A (n.1194+21T>A)
c.1293+21T>A (n.1293+21T>A)
 gnomAD v4
2g.188994354C>ACA074081COL3A1c.1194+22C>A (n.1194+22C>A)
c.1293+22C>A (n.1293+22C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994354C=CA1315398492COL3A1c.1194+22C= (n.1194+22C=)
c.1293+22C= (n.1293+22C=)
2g.188994354C>TCA074084COL3A1c.1194+22C>T (n.1194+22C>T)
c.1293+22C>T (n.1293+22C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994356G>CCA2662288955COL3A1c.1194+24G>C (n.1194+24G>C)
c.1293+24G>C (n.1293+24G>C)
 gnomAD v4
2g.188994356G>TCA2662288957COL3A1c.1194+24G>T (n.1194+24G>T)
c.1293+24G>T (n.1293+24G>T)
 gnomAD v4
2g.188994357T>CCA62595473COL3A1c.1194+25T>C (n.1194+25T>C)
c.1293+25T>C (n.1293+25T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.188994357T=CA1315398493COL3A1c.1194+25T= (n.1194+25T=)
c.1293+25T= (n.1293+25T=)
2g.188994363G>ACA2577185366COL3A1c.1194+31G>A (n.1194+31G>A)
c.1293+31G>A (n.1293+31G>A)
 gnomAD v4
2g.188994366A>TCA2753572112COL3A1c.1194+34A>T (n.1194+34A>T)
c.1293+34A>T (n.1293+34A>T)
2g.188994367G>ACA2662288959COL3A1c.1194+35G>A (n.1194+35G>A)
c.1293+35G>A (n.1293+35G>A)
 gnomAD v4
2g.188994367G=CA1315398494COL3A1c.1194+35G= (n.1194+35G=)
c.1293+35G= (n.1293+35G=)
2g.188994367G>TCA1315398495COL3A1c.1194+35G>T (n.1194+35G>T)
c.1293+35G>T (n.1293+35G>T)
 dbSNP
2g.188994368G>CCA074086COL3A1c.1194+36G>C (n.1194+36G>C)
c.1293+36G>C (n.1293+36G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994368G=CA1315398496COL3A1c.1194+36G= (n.1194+36G=)
c.1293+36G= (n.1293+36G=)
2g.188994368G>TCA62595485COL3A1c.1194+36G>T (n.1194+36G>T)
c.1293+36G>T (n.1293+36G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.188994370A>GCA2662288964COL3A1c.1194+38A>G (n.1194+38A>G)
c.1293+38A>G (n.1293+38A>G)
 gnomAD v4
2g.188994371T>CCA538441253COL3A1c.1194+39T>C (n.1194+39T>C)
c.1293+39T>C (n.1293+39T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.188994371T=CA1315398497COL3A1c.1194+39T= (n.1194+39T=)
c.1293+39T= (n.1293+39T=)
2g.188994372A=CA1315398498COL3A1c.1194+40A= (n.1194+40A=)
c.1293+40A= (n.1293+40A=)
2g.188994372A>GCA538441254COL3A1c.1194+40A>G (n.1194+40A>G)
c.1293+40A>G (n.1293+40A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.188994373G>CCA538441255COL3A1c.1194+41G>C (n.1194+41G>C)
c.1293+41G>C (n.1293+41G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.188994373G=CA1315398499COL3A1c.1194+41G= (n.1194+41G=)
c.1293+41G= (n.1293+41G=)
2g.188994374T>CCA2577185367COL3A1c.1194+42T>C (n.1194+42T>C)
c.1293+42T>C (n.1293+42T>C)
2g.188994376delCA647380865COL3A1c.1194+44del (n.1194+44del)
c.1293+44del (n.1293+44del)
 COSMIC
2g.188994378A>TCA2753572113COL3A1c.1194+46A>T (n.1194+46A>T)
c.1293+46A>T (n.1293+46A>T)
2g.188994381C=CA1315398500COL3A1c.1194+49C= (n.1194+49C=)
c.1293+49C= (n.1293+49C=)
2g.188994381C>GCA1315398501COL3A1c.1194+49C>G (n.1194+49C>G)
c.1293+49C>G (n.1293+49C>G)
 dbSNP
2g.188994381C>TCA2662288967COL3A1c.1194+49C>T (n.1194+49C>T)
c.1293+49C>T (n.1293+49C>T)
 gnomAD v4
2g.188994382C>ACA2577185368COL3A1c.1194+50C>A (n.1194+50C>A)
c.1293+50C>A (n.1293+50C>A)
2g.188994382C>TCA2662288973COL3A1c.1194+50C>T (n.1194+50C>T)
c.1293+50C>T (n.1293+50C>T)
 gnomAD v4
2g.188994383A>GCA2662288974COL3A1c.1194+51A>G (n.1194+51A>G)
c.1293+51A>G (n.1293+51A>G)
 gnomAD v4
2g.188994384T>CCA2505266636COL3A1c.1194+52T>C (n.1194+52T>C)
c.1293+52T>C (n.1293+52T>C)
 gnomAD v4
2g.188994385C>ACA2662288976COL3A1c.1194+53C>A (n.1194+53C>A)
c.1293+53C>A (n.1293+53C>A)
 gnomAD v4
2g.188994386A>GCA647380868COL3A1c.1194+54A>G (n.1194+54A>G)
c.1293+54A>G (n.1293+54A>G)
 COSMIC
2g.188994388C>TCA2662288977COL3A1c.1194+56C>T (n.1194+56C>T)
c.1293+56C>T (n.1293+56C>T)
 gnomAD v4
2g.188994388_188994389delinsCACA1315398502COL3A1c.1194+56_1194+57delinsCA (n.1194+56_1194+57delinsCA)
c.1293+56_1293+57delinsCA (n.1293+56_1293+57delinsCA)
2g.188994394delCA62595506COL3A1c.1194+62del (n.1194+62del)
c.1293+62del (n.1293+62del)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched