Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188989409_188996315delCA281702COL3A1c.650_1564-83del
c.650_1663-83del
 ClinVar
2g.188994508C=CA1315398554COL3A1c.1195-33C= (n.1195-33C=)
c.1294-33C= (n.1294-33C=)
2g.188994508C>GCA074103COL3A1c.1195-33C>G (n.1195-33C>G)
c.1294-33C>G (n.1294-33C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994508C>TCA074106COL3A1c.1195-33C>T (n.1195-33C>T)
c.1294-33C>T (n.1294-33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994509T>ACA538461828COL3A1c.1195-32T>A (n.1195-32T>A)
c.1294-32T>A (n.1294-32T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.188994509T=CA1315398555COL3A1c.1195-32T= (n.1195-32T=)
c.1294-32T= (n.1294-32T=)
2g.188994510G>ACA2662289044COL3A1c.1195-31G>A (n.1195-31G>A)
c.1294-31G>A (n.1294-31G>A)
 gnomAD v4
2g.188994512G>ACA074101COL3A1c.1195-29G>A (n.1195-29G>A)
c.1294-29G>A (n.1294-29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994512G=CA1315398556COL3A1c.1195-29G= (n.1195-29G=)
c.1294-29G= (n.1294-29G=)
2g.188994512G>TCA2701024676COL3A1c.1195-29G>T (n.1195-29G>T)
c.1294-29G>T (n.1294-29G>T)
 dbSNP
2g.188994513T>CCA2662289046COL3A1c.1195-28T>C (n.1195-28T>C)
c.1294-28T>C (n.1294-28T>C)
 gnomAD v4
2g.188994513T>GCA2662289047COL3A1c.1195-28T>G (n.1195-28T>G)
c.1294-28T>G (n.1294-28T>G)
 dbSNP gnomAD v4
2g.188994515T>GCA1315398558COL3A1c.1195-26T>G (n.1195-26T>G)
c.1294-26T>G (n.1294-26T>G)
 dbSNP
2g.188994515T=CA1315398557COL3A1c.1195-26T= (n.1195-26T=)
c.1294-26T= (n.1294-26T=)
2g.188994518A=CA1315398559COL3A1c.1195-23A= (n.1195-23A=)
c.1294-23A= (n.1294-23A=)
2g.188994518A>GCA074096COL3A1c.1195-23A>G (n.1195-23A>G)
c.1294-23A>G (n.1294-23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994518A>TCA074097COL3A1c.1195-23A>T (n.1195-23A>T)
c.1294-23A>T (n.1294-23A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994519C>ACA2753572118COL3A1c.1195-22C>A (n.1195-22C>A)
c.1294-22C>A (n.1294-22C>A)
2g.188994519C>GCA2662289049COL3A1c.1195-22C>G (n.1195-22C>G)
c.1294-22C>G (n.1294-22C>G)
 gnomAD v4
2g.188994520C>ACA074092COL3A1c.1195-21C>A (n.1195-21C>A)
c.1294-21C>A (n.1294-21C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994520C=CA1315398560COL3A1c.1195-21C= (n.1195-21C=)
c.1294-21C= (n.1294-21C=)
2g.188994520C>GCA62595637COL3A1c.1195-21C>G (n.1195-21C>G)
c.1294-21C>G (n.1294-21C>G)
 dbSNP gnomAD v4
2g.188994524A>GCA2577185380COL3A1c.1195-17A>G (n.1195-17A>G)
c.1294-17A>G (n.1294-17A>G)
2g.188994525_188994527delinsCTTCA1315398561COL3A1c.1195-16_1195-14delinsCTT (n.1195-16_1195-14delinsCTT)
c.1294-16_1294-14delinsCTT (n.1294-16_1294-14delinsCTT)
2g.188994528delCA2662289052COL3A1c.1195-13del (n.1195-13del)
c.1294-13del (n.1294-13del)
 ClinVar gnomAD v4
2g.188994527_188994528delCA538461829COL3A1c.1195-14_1195-13del (n.1195-14_1195-13del)
c.1294-14_1294-13del (n.1294-14_1294-13del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994528T>CCA074089COL3A1c.1195-13T>C (n.1195-13T>C)
c.1294-13T>C (n.1294-13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994528T=CA1315398562COL3A1c.1195-13T= (n.1195-13T=)
c.1294-13T= (n.1294-13T=)
2g.188994529G>ACA2662289054COL3A1c.1195-12G>A (n.1195-12G>A)
c.1294-12G>A (n.1294-12G>A)
 ClinVar gnomAD v4
2g.188994529G>CCA2662289056COL3A1c.1195-12G>C (n.1195-12G>C)
c.1294-12G>C (n.1294-12G>C)
 gnomAD v4
2g.188994529G=CA1315398563COL3A1c.1195-12G= (n.1195-12G=)
c.1294-12G= (n.1294-12G=)
2g.188994529G>TCA2577185381COL3A1c.1195-12G>T (n.1195-12G>T)
c.1294-12G>T (n.1294-12G>T)
 ClinVar gnomAD v4
2g.188994530T>CCA2701312708COL3A1c.1195-11T>C (n.1195-11T>C)
c.1294-11T>C (n.1294-11T>C)
 dbSNP
2g.188994533_188994539dupCA1040406430COL3A1c.1195-8_1195-2dup (n.1195-8_1195-2dup)
c.1294-8_1294-2dup (n.1294-8_1294-2dup)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994532A>GCA2580065342COL3A1c.1195-9A>G (n.1195-9A>G)
c.1294-9A>G (n.1294-9A>G)
 ClinVar gnomAD v4
2g.188994533T>ACA2740096379COL3A1c.1195-8T>A (n.1195-8T>A)
c.1294-8T>A (n.1294-8T>A)
 ClinVar
2g.188994533T>CCA538461830COL3A1c.1195-8T>C (n.1195-8T>C)
c.1294-8T>C (n.1294-8T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994533T=CA1315398564COL3A1c.1195-8T= (n.1195-8T=)
c.1294-8T= (n.1294-8T=)
2g.188994534A=CA1315398565COL3A1c.1195-7A= (n.1195-7A=)
c.1294-7A= (n.1294-7A=)
2g.188994534A>GCA1315398566COL3A1c.1195-7A>G (n.1195-7A>G)
c.1294-7A>G (n.1294-7A>G)
 dbSNP
2g.188994535C=CA1315398567COL3A1c.1195-6C= (n.1195-6C=)
c.1294-6C= (n.1294-6C=)
2g.188994535C>TCA62595651COL3A1c.1195-6C>T (n.1195-6C>T)
c.1294-6C>T (n.1294-6C>T)
 ClinVar dbSNP gnomAD v4
2g.188994536T>CCA2662289064COL3A1c.1195-5T>C (n.1195-5T>C)
c.1294-5T>C (n.1294-5T>C)
 gnomAD v4
2g.188994538T>CCA913187960COL3A1c.1195-3T>C (n.1195-3T>C)
c.1294-3T>C (n.1294-3T>C)
 ClinVar dbSNP gnomAD v4
2g.188994538T>GCA004205COL3A1c.1195-3T>G (n.1195-3T>G)
c.1294-3T>G (n.1294-3T>G)
 ClinVar dbSNP
2g.188994538T=CA1315398568COL3A1c.1195-3T= (n.1195-3T=)
c.1294-3T= (n.1294-3T=)
2g.188994539A>CCA349851608COL3A1c.1195-2A>C (n.1195-2A>C)
c.1294-2A>C (n.1294-2A>C)
2g.188994539A>GCA349851606COL3A1c.1195-2A>G (n.1195-2A>G)
c.1294-2A>G (n.1294-2A>G)
2g.188994539A>TCA349851604COL3A1c.1195-2A>T (n.1195-2A>T)
c.1294-2A>T (n.1294-2A>T)
2g.188994540G>ACA349851610COL3A1c.1195-1G>A (n.1195-1G>A)
c.1294-1G>A (n.1294-1G>A)
 ClinVar dbSNP gnomAD v4
2g.188994540G>CCA16610632COL3A1c.1195-1G>C (n.1195-1G>C)
c.1294-1G>C (n.1294-1G>C)
 ClinVar dbSNP
2g.188994540G=CA1315398569COL3A1c.1195-1G= (n.1195-1G=)
c.1294-1G= (n.1294-1G=)
2g.188994540G>TCA349851609COL3A1c.1195-1G>T (n.1195-1G>T)
c.1294-1G>T (n.1294-1G>T)
2g.188994541G>ACA004212COL3A1c.1195G>A (p.Gly399Ser)
c.1294G>A (p.Gly432Ser)
 ClinVar dbSNP gnomAD v4
2g.188994541G>CCA349851611COL3A1c.1195G>C (p.Gly399Arg)
c.1294G>C (p.Gly432Arg)
2g.188994541G=CA1315398570COL3A1c.1195G= (p.Gly399=)
c.1294G= (p.Gly432=)
2g.188994541G>TCA349851612COL3A1c.1195G>T (p.Gly399Cys)
c.1294G>T (p.Gly432Cys)
2g.188994542G>ACA349851613COL3A1c.1196G>A (p.Gly399Asp)
c.1295G>A (p.Gly432Asp)
 ClinVar dbSNP
2g.188994542G>CCA349851614COL3A1c.1196G>C (p.Gly399Ala)
c.1295G>C (p.Gly432Ala)
2g.188994542G=CA1315398571COL3A1c.1196G= (p.Gly399=)
c.1295G= (p.Gly432=)
2g.188994542G>TCA349851615COL3A1c.1196G>T (p.Gly399Val)
c.1295G>T (p.Gly432Val)
2g.188994543T>ACA430309517COL3A1c.1197T>A (p.Gly399=)
c.1296T>A (p.Gly432=)
2g.188994543T>CCA430309518COL3A1c.1197T>C (p.Gly399=)
c.1296T>C (p.Gly432=)
2g.188994543T>GCA430309519COL3A1c.1197T>G (p.Gly399=)
c.1296T>G (p.Gly432=)
2g.188994544G>ACA62595677COL3A1c.1198G>A (p.Glu400Lys)
c.1297G>A (p.Glu433Lys)
 ClinVar dbSNP gnomAD v4
2g.188994544G>CCA349851616COL3A1c.1198G>C (p.Glu400Gln)
c.1297G>C (p.Glu433Gln)
2g.188994544G=CA1315398572COL3A1c.1198G= (p.Glu400=)
c.1297G= (p.Glu433=)
2g.188994544G>TCA349851617COL3A1c.1198G>T (p.Glu400Ter)
c.1297G>T (p.Glu433Ter)
2g.188994545A>CCA349851618COL3A1c.1199A>C (p.Glu400Ala)
c.1298A>C (p.Glu433Ala)
 gnomAD v4
2g.188994545A>GCA349851619COL3A1c.1199A>G (p.Glu400Gly)
c.1298A>G (p.Glu433Gly)
2g.188994545A>TCA349851620COL3A1c.1199A>T (p.Glu400Val)
c.1298A>T (p.Glu433Val)
2g.188994546G>ACA430309520COL3A1c.1200G>A (p.Glu400=)
c.1299G>A (p.Glu433=)
2g.188994546G>CCA349851621COL3A1c.1200G>C (p.Glu400Asp)
c.1299G>C (p.Glu433Asp)
2g.188994546G>TCA349851622COL3A1c.1200G>T (p.Glu400Asp)
c.1299G>T (p.Glu433Asp)
2g.188994547C>ACA349851623COL3A1c.1201C>A (p.Pro401Thr)
c.1300C>A (p.Pro434Thr)
2g.188994547C>GCA349851624COL3A1c.1201C>G (p.Pro401Ala)
c.1300C>G (p.Pro434Ala)
2g.188994547C>TCA349851625COL3A1c.1201C>T (p.Pro401Ser)
c.1300C>T (p.Pro434Ser)
2g.188994548C>ACA349851626COL3A1c.1202C>A (p.Pro401His)
c.1301C>A (p.Pro434His)
2g.188994548C>GCA349851627COL3A1c.1202C>G (p.Pro401Arg)
c.1301C>G (p.Pro434Arg)
2g.188994548C>TCA349851628COL3A1c.1202C>T (p.Pro401Leu)
c.1301C>T (p.Pro434Leu)
2g.188994549T>ACA430309521COL3A1c.1203T>A (p.Pro401=)
c.1302T>A (p.Pro434=)
2g.188994549T>CCA430309522COL3A1c.1203T>C (p.Pro401=)
c.1302T>C (p.Pro434=)
2g.188994549T>GCA430309523COL3A1c.1203T>G (p.Pro401=)
c.1302T>G (p.Pro434=)
2g.188994550G>ACA10587531COL3A1c.1204G>A (p.Gly402Ser)
c.1303G>A (p.Gly435Ser)
 ClinVar dbSNP
2g.188994550G>CCA349851629COL3A1c.1204G>C (p.Gly402Arg)
c.1303G>C (p.Gly435Arg)
2g.188994550G=CA1315398573COL3A1c.1204G= (p.Gly402=)
c.1303G= (p.Gly435=)
2g.188994550G>TCA349851630COL3A1c.1204G>T (p.Gly402Cys)
c.1303G>T (p.Gly435Cys)
 ClinVar dbSNP
2g.188994551G>ACA349851631COL3A1c.1205G>A (p.Gly402Asp)
c.1304G>A (p.Gly435Asp)
 ClinVar
2g.188994551G>CCA349851632COL3A1c.1205G>C (p.Gly402Ala)
c.1304G>C (p.Gly435Ala)
2g.188994551G>TCA349851633COL3A1c.1205G>T (p.Gly402Val)
c.1304G>T (p.Gly435Val)
2g.188994552T>ACA430309524COL3A1c.1206T>A (p.Gly402=)
c.1305T>A (p.Gly435=)
 gnomAD v4
2g.188994552T>CCA074139COL3A1c.1206T>C (p.Gly402=)
c.1305T>C (p.Gly435=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994552T>GCA430309525COL3A1c.1206T>G (p.Gly402=)
c.1305T>G (p.Gly435=)
 gnomAD v4
2g.188994552T=CA1315398574COL3A1c.1206T= (p.Gly402=)
c.1305T= (p.Gly435=)
2g.188994553A=CA1315398575COL3A1c.1207A= (p.Lys403=)
c.1306A= (p.Lys436=)
2g.188994553A>CCA349851635COL3A1c.1207A>C (p.Lys403Gln)
c.1306A>C (p.Lys436Gln)
2g.188994553A>GCA349851636COL3A1c.1207A>G (p.Lys403Glu)
c.1306A>G (p.Lys436Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.188994553A>TCA349851634COL3A1c.1207A>T (p.Lys403Ter)
c.1306A>T (p.Lys436Ter)
2g.188994554A=CA1315398576COL3A1c.1208A= (p.Lys403=)
c.1307A= (p.Lys436=)
2g.188994554A>CCA074143COL3A1c.1208A>C (p.Lys403Thr)
c.1307A>C (p.Lys436Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994554A>GCA349851638COL3A1c.1208A>G (p.Lys403Arg)
c.1307A>G (p.Lys436Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.188994554A>TCA349851637COL3A1c.1208A>T (p.Lys403Met)
c.1307A>T (p.Lys436Met)
2g.188994555G>ACA430309526COL3A1c.1209G>A (p.Lys403=)
c.1308G>A (p.Lys436=)
 COSMIC COSMIC
2g.188994555G>CCA349851639COL3A1c.1209G>C (p.Lys403Asn)
c.1308G>C (p.Lys436Asn)
2g.188994555G>TCA349851640COL3A1c.1209G>T (p.Lys403Asn)
c.1308G>T (p.Lys436Asn)
 gnomAD v3
2g.188994556A>CCA349851641COL3A1c.1210A>C (p.Asn404His)
c.1309A>C (p.Asn437His)
2g.188994556A>GCA349851642COL3A1c.1210A>G (p.Asn404Asp)
c.1309A>G (p.Asn437Asp)
2g.188994556A>TCA349851643COL3A1c.1210A>T (p.Asn404Tyr)
c.1309A>T (p.Asn437Tyr)
2g.188994557A>CCA349851644COL3A1c.1211A>C (p.Asn404Thr)
c.1310A>C (p.Asn437Thr)
2g.188994557A>GCA349851645COL3A1c.1211A>G (p.Asn404Ser)
c.1310A>G (p.Asn437Ser)
2g.188994557A>TCA349851646COL3A1c.1211A>T (p.Asn404Ile)
c.1310A>T (p.Asn437Ile)
2g.188994558T>ACA349851647COL3A1c.1212T>A (p.Asn404Lys)
c.1311T>A (p.Asn437Lys)
2g.188994558T>CCA430309527COL3A1c.1212T>C (p.Asn404=)
c.1311T>C (p.Asn437=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994558T>GCA349851648COL3A1c.1212T>G (p.Asn404Lys)
c.1311T>G (p.Asn437Lys)
2g.188994558T=CA1315398577COL3A1c.1212T= (p.Asn404=)
c.1311T= (p.Asn437=)
2g.188994559G>ACA349851651COL3A1c.1213G>A (p.Gly405Ser)
c.1312G>A (p.Gly438Ser)
2g.188994559G>CCA349851650COL3A1c.1213G>C (p.Gly405Arg)
c.1312G>C (p.Gly438Arg)
2g.188994559G>TCA349851649COL3A1c.1213G>T (p.Gly405Cys)
c.1312G>T (p.Gly438Cys)
 COSMIC
2g.188994560G>ACA349851652COL3A1c.1214G>A (p.Gly405Asp)
c.1313G>A (p.Gly438Asp)
 ClinVar dbSNP
2g.188994560G>CCA349851653COL3A1c.1214G>C (p.Gly405Ala)
c.1313G>C (p.Gly438Ala)
2g.188994560G>TCA349851654COL3A1c.1214G>T (p.Gly405Val)
c.1313G>T (p.Gly438Val)
2g.188994561T>ACA430309528COL3A1c.1215T>A (p.Gly405=)
c.1314T>A (p.Gly438=)
2g.188994561T>CCA430309530COL3A1c.1215T>C (p.Gly405=)
c.1314T>C (p.Gly438=)
2g.188994561T>GCA430309529COL3A1c.1215T>G (p.Gly405=)
c.1314T>G (p.Gly438=)
 gnomAD v4
2g.188994562G>ACA349851655COL3A1c.1216G>A (p.Ala406Thr)
c.1315G>A (p.Ala439Thr)
2g.188994562G>CCA62595739COL3A1c.1216G>C (p.Ala406Pro)
c.1315G>C (p.Ala439Pro)
 dbSNP
2g.188994562G=CA1315398578COL3A1c.1216G= (p.Ala406=)
c.1315G= (p.Ala439=)
2g.188994562G>TCA349851656COL3A1c.1216G>T (p.Ala406Ser)
c.1315G>T (p.Ala439Ser)
2g.188994563C>ACA349851657COL3A1c.1217C>A (p.Ala406Asp)
c.1316C>A (p.Ala439Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.188994563C=CA1315398579COL3A1c.1217C= (p.Ala406=)
c.1316C= (p.Ala439=)
2g.188994563C>GCA349851658COL3A1c.1217C>G (p.Ala406Gly)
c.1316C>G (p.Ala439Gly)
2g.188994563C>TCA349851659COL3A1c.1217C>T (p.Ala406Val)
c.1316C>T (p.Ala439Val)
 ClinVar
2g.188994564C>ACA430309531COL3A1c.1218C>A (p.Ala406=)
c.1317C>A (p.Ala439=)
2g.188994564C>GCA430309532COL3A1c.1218C>G (p.Ala406=)
c.1317C>G (p.Ala439=)
2g.188994564C>TCA430309533COL3A1c.1218C>T (p.Ala406=)
c.1317C>T (p.Ala439=)
 gnomAD v4
2g.188994565A>CCA349851660COL3A1c.1219A>C (p.Lys407Gln)
c.1318A>C (p.Lys440Gln)
2g.188994565A>GCA349851661COL3A1c.1219A>G (p.Lys407Glu)
c.1318A>G (p.Lys440Glu)
2g.188994565A>TCA349851662COL3A1c.1219A>T (p.Lys407Ter)
c.1318A>T (p.Lys440Ter)
2g.188994566A=CA1315398580COL3A1c.1220A= (p.Lys407=)
c.1319A= (p.Lys440=)
2g.188994566A>CCA349851663COL3A1c.1220A>C (p.Lys407Thr)
c.1319A>C (p.Lys440Thr)
2g.188994566A>GCA349851664COL3A1c.1220A>G (p.Lys407Arg)
c.1319A>G (p.Lys440Arg)
2g.188994566A>TCA62595757COL3A1c.1220A>T (p.Lys407Ile)
c.1319A>T (p.Lys440Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.188994567A>CCA349851665COL3A1c.1221A>C (p.Lys407Asn)
c.1320A>C (p.Lys440Asn)
2g.188994567A>GCA430309534COL3A1c.1221A>G (p.Lys407=)
c.1320A>G (p.Lys440=)
2g.188994567A>TCA349851666COL3A1c.1221A>T (p.Lys407Asn)
c.1320A>T (p.Lys440Asn)
2g.188994567_188994568delinsAGCA1315398581COL3A1c.1221_1222delinsAG (p.Lys407=)
c.1320_1321delinsAG (p.Lys440=)
2g.188994568G>ACA349851667COL3A1c.1222G>A (p.Gly408Arg)
c.1321G>A (p.Gly441Arg)
 ClinVar
2g.188994568G>CCA349851668COL3A1c.1222G>C (p.Gly408Arg)
c.1321G>C (p.Gly441Arg)
2g.188994568G>TCA349851669COL3A1c.1222G>T (p.Gly408Ter)
c.1321G>T (p.Gly441Ter)
2g.188994569delCA1139657558COL3A1c.1223del (p.Gly408GlufsTer?)
c.1322del (p.Gly441GlufsTer?)
 ClinVar dbSNP
2g.188994569G>ACA349851670COL3A1c.1223G>A (p.Gly408Glu)
c.1322G>A (p.Gly441Glu)
 ClinVar dbSNP
2g.188994569G>CCA349851671COL3A1c.1223G>C (p.Gly408Ala)
c.1322G>C (p.Gly441Ala)
2g.188994569G>TCA349851672COL3A1c.1223G>T (p.Gly408Val)
c.1322G>T (p.Gly441Val)
2g.188994570A>CCA430309535COL3A1c.1224A>C (p.Gly408=)
c.1323A>C (p.Gly441=)
2g.188994570A>GCA430309536COL3A1c.1224A>G (p.Gly408=)
c.1323A>G (p.Gly441=)
2g.188994570A>TCA430309537COL3A1c.1224A>T (p.Gly408=)
c.1323A>T (p.Gly441=)
2g.188994571G>ACA349851673COL3A1c.1225G>A (p.Glu409Lys)
c.1324G>A (p.Glu442Lys)
2g.188994571G>CCA349851674COL3A1c.1225G>C (p.Glu409Gln)
c.1324G>C (p.Glu442Gln)
 ClinVar gnomAD v4 COSMIC COSMIC
2g.188994571G>TCA349851675COL3A1c.1225G>T (p.Glu409Ter)
c.1324G>T (p.Glu442Ter)
 COSMIC COSMIC
2g.188994572A>CCA349851676COL3A1c.1226A>C (p.Glu409Ala)
c.1325A>C (p.Glu442Ala)
2g.188994572A>GCA349851677COL3A1c.1226A>G (p.Glu409Gly)
c.1325A>G (p.Glu442Gly)
2g.188994572A>TCA349851678COL3A1c.1226A>T (p.Glu409Val)
c.1325A>T (p.Glu442Val)
2g.188994573G>ACA430309538COL3A1c.1227G>A (p.Glu409=)
c.1326G>A (p.Glu442=)
2g.188994573G>CCA349851679COL3A1c.1227G>C (p.Glu409Asp)
c.1326G>C (p.Glu442Asp)
2g.188994573G>TCA349851680COL3A1c.1227G>T (p.Glu409Asp)
c.1326G>T (p.Glu442Asp)
2g.188994574C>ACA349851681COL3A1c.1228C>A (p.Pro410Thr)
c.1327C>A (p.Pro443Thr)
2g.188994574C=CA1315398582COL3A1c.1228C= (p.Pro410=)
c.1327C= (p.Pro443=)
2g.188994574C>GCA349851682COL3A1c.1228C>G (p.Pro410Ala)
c.1327C>G (p.Pro443Ala)
2g.188994574C>TCA349851683COL3A1c.1228C>T (p.Pro410Ser)
c.1327C>T (p.Pro443Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.188994575C>ACA349851684COL3A1c.1229C>A (p.Pro410His)
c.1328C>A (p.Pro443His)
2g.188994575C>GCA349851685COL3A1c.1229C>G (p.Pro410Arg)
c.1328C>G (p.Pro443Arg)
2g.188994575C>TCA349851686COL3A1c.1229C>T (p.Pro410Leu)
c.1328C>T (p.Pro443Leu)
2g.188994576C>ACA62595764COL3A1c.1230C>A (p.Pro410=)
c.1329C>A (p.Pro443=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994576C=CA1315398583COL3A1c.1230C= (p.Pro410=)
c.1329C= (p.Pro443=)
2g.188994576C>GCA430309539COL3A1c.1230C>G (p.Pro410=)
c.1329C>G (p.Pro443=)
2g.188994576C>TCA074156COL3A1c.1230C>T (p.Pro410=)
c.1329C>T (p.Pro443=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188994577G>ACA004225COL3A1c.1231G>A (p.Gly411Arg)
c.1330G>A (p.Gly444Arg)
 ClinVar dbSNP COSMIC COSMIC
2g.188994577G>CCA004230COL3A1c.1231G>C (p.Gly411Arg)
c.1330G>C (p.Gly444Arg)
 ClinVar dbSNP
2g.188994577G=CA1315398584COL3A1c.1231G= (p.Gly411=)
c.1330G= (p.Gly444=)
2g.188994577G>TCA349851687COL3A1c.1231G>T (p.Gly411Ter)
c.1330G>T (p.Gly444Ter)
2g.188994578G>ACA349851688COL3A1c.1232G>A (p.Gly411Glu)
c.1331G>A (p.Gly444Glu)
2g.188994578G>CCA349851689COL3A1c.1232G>C (p.Gly411Ala)
c.1331G>C (p.Gly444Ala)
2g.188994578G>TCA349851690COL3A1c.1232G>T (p.Gly411Val)
c.1331G>T (p.Gly444Val)
2g.188994579A>CCA430309540COL3A1c.1233A>C (p.Gly411=)
c.1332A>C (p.Gly444=)
2g.188994579A>GCA430309541COL3A1c.1233A>G (p.Gly411=)
c.1332A>G (p.Gly444=)
2g.188994579A>TCA430309542COL3A1c.1233A>T (p.Gly411=)
c.1332A>T (p.Gly444=)
2g.188994580C>ACA349851691COL3A1c.1234C>A (p.Pro412Thr)
c.1333C>A (p.Pro445Thr)
2g.188994580C=CA1315398585COL3A1c.1234C= (p.Pro412=)
c.1333C= (p.Pro445=)
2g.188994580C>GCA349851693COL3A1c.1234C>G (p.Pro412Ala)
c.1333C>G (p.Pro445Ala)
 gnomAD v4
2g.188994580C>TCA349851692COL3A1c.1234C>T (p.Pro412Ser)
c.1333C>T (p.Pro445Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994581C>ACA349851694COL3A1c.1235C>A (p.Pro412Gln)
c.1334C>A (p.Pro445Gln)
 dbSNP
2g.188994581C=CA1315398586COL3A1c.1235C= (p.Pro412=)
c.1334C= (p.Pro445=)
2g.188994581C>GCA349851695COL3A1c.1235C>G (p.Pro412Arg)
c.1334C>G (p.Pro445Arg)
2g.188994581C>TCA349851696COL3A1c.1235C>T (p.Pro412Leu)
c.1334C>T (p.Pro445Leu)
 ClinVar dbSNP
2g.188994582A=CA1315398587COL3A1c.1236A= (p.Pro412=)
c.1335A= (p.Pro445=)
2g.188994582A>CCA430309543COL3A1c.1236A>C (p.Pro412=)
c.1335A>C (p.Pro445=)
2g.188994582A>GCA430309544COL3A1c.1236A>G (p.Pro412=)
c.1335A>G (p.Pro445=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188994582A>TCA430309545COL3A1c.1236A>T (p.Pro412=)
c.1335A>T (p.Pro445=)
2g.188994583C>ACA349851697COL3A1c.1237C>A (p.Arg413Ser)
c.1336C>A (p.Arg446Ser)
2g.188994583C=CA1315398588COL3A1c.1237C= (p.Arg413=)
c.1336C= (p.Arg446=)
2g.188994583C>GCA349851698COL3A1c.1237C>G (p.Arg413Gly)
c.1336C>G (p.Arg446Gly)
2g.188994583C>TCA349851699COL3A1c.1237C>T (p.Arg413Cys)
c.1336C>T (p.Arg446Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.188994584G>ACA074160COL3A1c.1238G>A (p.Arg413His)
c.1337G>A (p.Arg446His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994584G>CCA074164COL3A1c.1238G>C (p.Arg413Pro)
c.1337G>C (p.Arg446Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994584G=CA1315398589COL3A1c.1238G= (p.Arg413=)
c.1337G= (p.Arg446=)
2g.188994584G>TCA349851700COL3A1c.1238G>T (p.Arg413Leu)
c.1337G>T (p.Arg446Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.188994585T>ACA430309546COL3A1c.1239T>A (p.Arg413=)
c.1338T>A (p.Arg446=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188994585T>CCA430309547COL3A1c.1239T>C (p.Arg413=)
c.1338T>C (p.Arg446=)
2g.188994585T>GCA430309548COL3A1c.1239T>G (p.Arg413=)
c.1338T>G (p.Arg446=)
2g.188994585T=CA1315398590COL3A1c.1239T= (p.Arg413=)
c.1338T= (p.Arg446=)
2g.188994586G>ACA349851701COL3A1c.1240G>A (p.Gly414Ser)
c.1339G>A (p.Gly447Ser)
2g.188994586G>CCA349851702COL3A1c.1240G>C (p.Gly414Arg)
c.1339G>C (p.Gly447Arg)
2g.188994586G>TCA349851703COL3A1c.1240G>T (p.Gly414Cys)
c.1339G>T (p.Gly447Cys)
2g.188994587G>ACA349851704COL3A1c.1241G>A (p.Gly414Asp)
c.1340G>A (p.Gly447Asp)
 COSMIC
2g.188994587G>CCA349851705COL3A1c.1241G>C (p.Gly414Ala)
c.1340G>C (p.Gly447Ala)
2g.188994587G>TCA349851706COL3A1c.1241G>T (p.Gly414Val)
c.1340G>T (p.Gly447Val)
2g.188994588T>ACA430309549COL3A1c.1242T>A (p.Gly414=)
c.1341T>A (p.Gly447=)
2g.188994588T>CCA430309550COL3A1c.1242T>C (p.Gly414=)
c.1341T>C (p.Gly447=)
2g.188994588T>GCA430309551COL3A1c.1242T>G (p.Gly414=)
c.1341T>G (p.Gly447=)
 gnomAD v4
2g.188994589G>ACA349851707COL3A1c.1243G>A (p.Glu415Lys)
c.1342G>A (p.Glu448Lys)
 ClinVar dbSNP
2g.188994589G>CCA349851709COL3A1c.1243G>C (p.Glu415Gln)
c.1342G>C (p.Glu448Gln)
2g.188994589G=CA1315398591COL3A1c.1243G= (p.Glu415=)
c.1342G= (p.Glu448=)
2g.188994589G>TCA349851708COL3A1c.1243G>T (p.Glu415Ter)
c.1342G>T (p.Glu448Ter)
2g.188994590A>CCA349851710COL3A1c.1244A>C (p.Glu415Ala)
c.1343A>C (p.Glu448Ala)
2g.188994590A>GCA349851711COL3A1c.1244A>G (p.Glu415Gly)
c.1343A>G (p.Glu448Gly)
 COSMIC COSMIC
2g.188994590A>TCA349851712COL3A1c.1244A>T (p.Glu415Val)
c.1343A>T (p.Glu448Val)
2g.188994591A>CCA349851713COL3A1c.1245A>C (p.Glu415Asp)
c.1344A>C (p.Glu448Asp)
2g.188994591A>GCA430309552COL3A1c.1245A>G (p.Glu415=)
c.1344A>G (p.Glu448=)
 gnomAD v4
2g.188994591A>TCA349851714COL3A1c.1245A>T (p.Glu415Asp)
c.1344A>T (p.Glu448Asp)
2g.188994592C>ACA349851715COL3A1c.1246C>A (p.Arg416Ser)
c.1345C>A (p.Arg449Ser)
2g.188994592C=CA1315398592COL3A1c.1246C= (p.Arg416=)
c.1345C= (p.Arg449=)
2g.188994592C>GCA349851716COL3A1c.1246C>G (p.Arg416Gly)
c.1345C>G (p.Arg449Gly)
 gnomAD v4
2g.188994592C>TCA349851717COL3A1c.1246C>T (p.Arg416Cys)
c.1345C>T (p.Arg449Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188994593G>ACA62595775COL3A1c.1247G>A (p.Arg416His)
c.1346G>A (p.Arg449His)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188994593G>CCA349851718COL3A1c.1247G>C (p.Arg416Pro)
c.1346G>C (p.Arg449Pro)
2g.188994593G=CA1315398593COL3A1c.1247G= (p.Arg416=)
c.1346G= (p.Arg449=)
2g.188994593G>TCA349851719COL3A1c.1247G>T (p.Arg416Leu)
c.1346G>T (p.Arg449Leu)
2g.188994594C>ACA430309553COL3A1c.1248C>A (p.Arg416=)
c.1347C>A (p.Arg449=)
 ClinVar dbSNP
2g.188994594C=CA1315398594COL3A1c.1248C= (p.Arg416=)
c.1347C= (p.Arg449=)
2g.188994594C>GCA430309554COL3A1c.1248C>G (p.Arg416=)
c.1347C>G (p.Arg449=)
 ClinVar
2g.188994594C>TCA074200COL3A1c.1248C>T (p.Arg416=)
c.1347C>T (p.Arg449=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994595G>ACA004237COL3A1c.1248+1G>A (n.1248+1G>A)
c.1347+1G>A (n.1347+1G>A)
 ClinVar dbSNP COSMIC COSMIC
2g.188994595G>CCA349851720COL3A1c.1248+1G>C (n.1248+1G>C)
c.1347+1G>C (n.1347+1G>C)
2g.188994595G=CA1315398595COL3A1c.1248+1G= (n.1248+1G=)
c.1347+1G= (n.1347+1G=)
2g.188994595G>TCA004243COL3A1c.1248+1G>T (n.1248+1G>T)
c.1347+1G>T (n.1347+1G>T)
 ClinVar dbSNP gnomAD v4
2g.188994596T>ACA349851721COL3A1c.1248+2T>A (n.1248+2T>A)
c.1347+2T>A (n.1347+2T>A)
2g.188994596T>CCA349851722COL3A1c.1248+2T>C (n.1248+2T>C)
c.1347+2T>C (n.1347+2T>C)
2g.188994596T>GCA349851723COL3A1c.1248+2T>G (n.1248+2T>G)
c.1347+2T>G (n.1347+2T>G)
2g.188994597A=CA1315398596COL3A1c.1248+3A= (n.1248+3A=)
c.1347+3A= (n.1347+3A=)
2g.188994597A>CCA004246COL3A1c.1248+3A>C (n.1248+3A>C)
c.1347+3A>C (n.1347+3A>C)
 ClinVar dbSNP
2g.188994598A=CA1315398597COL3A1c.1248+4A= (n.1248+4A=)
c.1347+4A= (n.1347+4A=)
2g.188994598A>CCA074190COL3A1c.1248+4A>C (n.1248+4A>C)
c.1347+4A>C (n.1347+4A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.188994598A>GCA538461831COL3A1c.1248+4A>G (n.1248+4A>G)
c.1347+4A>G (n.1347+4A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188994599G>CCA004252COL3A1c.1248+5G>C (n.1248+5G>C)
c.1347+5G>C (n.1347+5G>C)
 ClinVar dbSNP
2g.188994599G=CA1315398598COL3A1c.1248+5G= (n.1248+5G=)
c.1347+5G= (n.1347+5G=)
2g.188994600T>CCA074195COL3A1c.1248+6T>C (n.1248+6T>C)
c.1347+6T>C (n.1347+6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188994600T=CA1315398599COL3A1c.1248+6T= (n.1248+6T=)
c.1347+6T= (n.1347+6T=)
2g.188994602T>CCA2662289129COL3A1c.1248+8T>C (n.1248+8T>C)
c.1347+8T>C (n.1347+8T>C)
 gnomAD v4
2g.188994604A=CA1315398600COL3A1c.1248+10A= (n.1248+10A=)
c.1347+10A= (n.1347+10A=)
2g.188994604A>GCA2662289131COL3A1c.1248+10A>G (n.1248+10A>G)
c.1347+10A>G (n.1347+10A>G)
 gnomAD v4
2g.188994604A>TCA1315398601COL3A1c.1248+10A>T (n.1248+10A>T)
c.1347+10A>T (n.1347+10A>T)
 ClinVar dbSNP
2g.188994605C>GCA2573133080COL3A1c.1248+11C>G (n.1248+11C>G)
c.1347+11C>G (n.1347+11C>G)
 ClinVar dbSNP
2g.188994605C>TCA2662289132COL3A1c.1248+11C>T (n.1248+11C>T)
c.1347+11C>T (n.1347+11C>T)
 gnomAD v4
2g.188994606T>ACA074166COL3A1c.1248+12T>A (n.1248+12T>A)
c.1347+12T>A (n.1347+12T>A)
 dbSNP ExAC gnomAD v2
2g.188994606T>CCA2662289134COL3A1c.1248+12T>C (n.1248+12T>C)
c.1347+12T>C (n.1347+12T>C)
 gnomAD v4
2g.188994606T=CA1315398602COL3A1c.1248+12T= (n.1248+12T=)
c.1347+12T= (n.1347+12T=)
2g.188994607G>CCA1315398604COL3A1c.1248+13G>C (n.1248+13G>C)
c.1347+13G>C (n.1347+13G>C)
 dbSNP
2g.188994607G=CA1315398603COL3A1c.1248+13G= (n.1248+13G=)
c.1347+13G= (n.1347+13G=)
2g.188994608C=CA1315398605COL3A1c.1248+14C= (n.1248+14C=)
c.1347+14C= (n.1347+14C=)
2g.188994608C>TCA074172COL3A1c.1248+14C>T (n.1248+14C>T)
c.1347+14C>T (n.1347+14C>T)
 dbSNP ExAC gnomAD v2

Number of alleles fetched