Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188994293A>C | CA430309482 | COL3A1 | c.1155A>C (p.Pro385=) c.1254A>C (p.Pro418=) c.253A>C | |
2 | g.188994293A>G | CA430309480 | COL3A1 | c.1155A>G (p.Pro385=) c.1254A>G (p.Pro418=) c.253A>G | ClinVar dbSNP |
2 | g.188994293A>T | CA430309481 | COL3A1 | c.1155A>T (p.Pro385=) c.1254A>T (p.Pro418=) c.253A>T | |
2 | g.188994294G>A | CA349851469 | COL3A1 | c.1156G>A (p.Ala386Thr) c.1255G>A (p.Ala419Thr) c.254G>A | |
2 | g.188994294G>C | CA349851470 | COL3A1 | c.1156G>C (p.Ala386Pro) c.1255G>C (p.Ala419Pro) c.254G>C | |
2 | g.188994294G>T | CA349851472 | COL3A1 | c.1156G>T (p.Ala386Ser) c.1255G>T (p.Ala419Ser) c.254G>T | |
2 | g.188994295C>A | CA349851474 | COL3A1 | c.1157C>A (p.Ala386Asp) c.1256C>A (p.Ala419Asp) c.255C>A | |
2 | g.188994295C>G | CA349851480 | COL3A1 | c.1157C>G (p.Ala386Gly) c.1256C>G (p.Ala419Gly) c.255C>G | |
2 | g.188994295C>T | CA349851481 | COL3A1 | c.1157C>T (p.Ala386Val) c.1256C>T (p.Ala419Val) c.255C>T | COSMIC |
2 | g.188994296C>A | CA430309483 | COL3A1 | c.1158C>A (p.Ala386=) c.1257C>A (p.Ala419=) c.256C>A | |
2 | g.188994296C= | CA1315398460 | COL3A1 | c.1158C= (p.Ala386=) c.1257C= (p.Ala419=) c.256C= | |
2 | g.188994296C>G | CA430309484 | COL3A1 | c.1158C>G (p.Ala386=) c.1257C>G (p.Ala419=) c.256C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994296C>T | CA004174 | COL3A1 | c.1158C>T (p.Ala386=) c.1257C>T (p.Ala419=) c.256C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994297G>A | CA004179 | COL3A1 | c.1159G>A (p.Gly387Ser) c.1258G>A (p.Gly420Ser) c.257G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.188994297G>C | CA349851484 | COL3A1 | c.1159G>C (p.Gly387Arg) c.1258G>C (p.Gly420Arg) c.257G>C | dbSNP |
2 | g.188994297G= | CA1315398461 | COL3A1 | c.1159G= (p.Gly387=) c.1258G= (p.Gly420=) c.257G= | |
2 | g.188994297G>T | CA349851486 | COL3A1 | c.1159G>T (p.Gly387Cys) c.1258G>T (p.Gly420Cys) c.257G>T | |
2 | g.188994298G>A | CA349851490 | COL3A1 | c.1160G>A (p.Gly387Asp) c.1259G>A (p.Gly420Asp) c.258G>A | |
2 | g.188994298G>C | CA349851492 | COL3A1 | c.1160G>C (p.Gly387Ala) c.1259G>C (p.Gly420Ala) c.258G>C | gnomAD v4 |
2 | g.188994298G>T | CA349851489 | COL3A1 | c.1160G>T (p.Gly387Val) c.1259G>T (p.Gly420Val) c.258G>T | |
2 | g.188994299T>A | CA430309486 | COL3A1 | c.1161T>A (p.Gly387=) c.1260T>A (p.Gly420=) c.259T>A | |
2 | g.188994299T>C | CA430309485 | COL3A1 | c.1161T>C (p.Gly387=) c.1260T>C (p.Gly420=) c.259T>C | |
2 | g.188994299T>G | CA430309487 | COL3A1 | c.1161T>G (p.Gly387=) c.1260T>G (p.Gly420=) c.259T>G | |
2 | g.188994300G>A | CA074055 | COL3A1 | c.1162G>A (p.Ala388Thr) c.1261G>A (p.Ala421Thr) c.260G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994300G>C | CA349851495 | COL3A1 | c.1162G>C (p.Ala388Pro) c.1261G>C (p.Ala421Pro) c.260G>C | |
2 | g.188994300G= | CA1315398462 | COL3A1 | c.1162G= (p.Ala388=) c.1261G= (p.Ala421=) c.260G= | |
2 | g.188994300G>T | CA349851497 | COL3A1 | c.1162G>T (p.Ala388Ser) c.1261G>T (p.Ala421Ser) c.260G>T | |
2 | g.188994301C>A | CA349851498 | COL3A1 | c.1163C>A (p.Ala388Asp) c.1262C>A (p.Ala421Asp) c.261C>A | |
2 | g.188994301C= | CA1315398463 | COL3A1 | c.1163C= (p.Ala388=) c.1262C= (p.Ala421=) c.261C= | |
2 | g.188994301C>G | CA074059 | COL3A1 | c.1163C>G (p.Ala388Gly) c.1262C>G (p.Ala421Gly) c.261C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994301C>T | CA349851499 | COL3A1 | c.1163C>T (p.Ala388Val) c.1262C>T (p.Ala421Val) c.261C>T | COSMIC COSMIC |
2 | g.188994302T>A | CA430309488 | COL3A1 | c.1164T>A (p.Ala388=) c.1263T>A (p.Ala421=) c.262T>A | |
2 | g.188994302T>C | CA430309489 | COL3A1 | c.1164T>C (p.Ala388=) c.1263T>C (p.Ala421=) c.262T>C | |
2 | g.188994302T>G | CA430309490 | COL3A1 | c.1164T>G (p.Ala388=) c.1263T>G (p.Ala421=) c.262T>G | gnomAD v4 |
2 | g.188994303A= | CA1315398464 | COL3A1 | c.1165A= (p.Asn389=) c.1264A= (p.Asn422=) c.263A= | |
2 | g.188994303A>C | CA349851502 | COL3A1 | c.1165A>C (p.Asn389His) c.1264A>C (p.Asn422His) c.263A>C | |
2 | g.188994303A>G | CA349851500 | COL3A1 | c.1165A>G (p.Asn389Asp) c.1264A>G (p.Asn422Asp) c.263A>G | ClinVar dbSNP gnomAD v4 |
2 | g.188994303A>T | CA349851501 | COL3A1 | c.1165A>T (p.Asn389Tyr) c.1264A>T (p.Asn422Tyr) c.263A>T | |
2 | g.188994304A= | CA1315398465 | COL3A1 | c.1166A= (p.Asn389=) c.1265A= (p.Asn422=) c.264A= | |
2 | g.188994304A>C | CA349851503 | COL3A1 | c.1166A>C (p.Asn389Thr) c.1265A>C (p.Asn422Thr) c.264A>C | |
2 | g.188994304A>G | CA349851504 | COL3A1 | c.1166A>G (p.Asn389Ser) c.1265A>G (p.Asn422Ser) c.264A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994304A>T | CA349851505 | COL3A1 | c.1166A>T (p.Asn389Ile) c.1265A>T (p.Asn422Ile) c.264A>T | |
2 | g.188994305T>A | CA349851506 | COL3A1 | c.1167T>A (p.Asn389Lys) c.1266T>A (p.Asn422Lys) c.265T>A | |
2 | g.188994305T>C | CA430309491 | COL3A1 | c.1167T>C (p.Asn389=) c.1266T>C (p.Asn422=) c.265T>C | gnomAD v4 |
2 | g.188994305T>G | CA349851507 | COL3A1 | c.1167T>G (p.Asn389Lys) c.1266T>G (p.Asn422Lys) c.265T>G | |
2 | g.188994306G>A | CA004186 | COL3A1 | c.1168G>A (p.Gly390Ser) c.1267G>A (p.Gly423Ser) c.266G>A | ClinVar dbSNP |
2 | g.188994306G>C | CA349851508 | COL3A1 | c.1168G>C (p.Gly390Arg) c.1267G>C (p.Gly423Arg) c.266G>C | |
2 | g.188994306G= | CA1315398466 | COL3A1 | c.1168G= (p.Gly390=) c.1267G= (p.Gly423=) c.266G= | |
2 | g.188994306G>T | CA349851509 | COL3A1 | c.1168G>T (p.Gly390Cys) c.1267G>T (p.Gly423Cys) c.266G>T | |
2 | g.188994307G>A | CA004193 | COL3A1 | c.1169G>A (p.Gly390Asp) c.1268G>A (p.Gly423Asp) c.267G>A | ClinVar dbSNP |
2 | g.188994307G>C | CA349851510 | COL3A1 | c.1169G>C (p.Gly390Ala) c.1268G>C (p.Gly423Ala) c.267G>C | ClinVar |
2 | g.188994307G= | CA1315398467 | COL3A1 | c.1169G= (p.Gly390=) c.1268G= (p.Gly423=) c.267G= | |
2 | g.188994307G>T | CA349851511 | COL3A1 | c.1169G>T (p.Gly390Val) c.1268G>T (p.Gly423Val) c.267G>T | |
2 | g.188994308T>A | CA430309492 | COL3A1 | c.1170T>A (p.Gly390=) c.1269T>A (p.Gly423=) c.268T>A | |
2 | g.188994308T>C | CA074062 | COL3A1 | c.1170T>C (p.Gly390=) c.1269T>C (p.Gly423=) c.268T>C | dbSNP ExAC gnomAD v2 |
2 | g.188994308T>G | CA430309493 | COL3A1 | c.1170T>G (p.Gly390=) c.1269T>G (p.Gly423=) c.268T>G | |
2 | g.188994308T= | CA1315398468 | COL3A1 | c.1170T= (p.Gly390=) c.1269T= (p.Gly423=) c.268T= | |
2 | g.188994309G>A | CA349851512 | COL3A1 | c.1171G>A (p.Ala391Thr) c.1270G>A (p.Ala424Thr) | |
2 | g.188994309G>C | CA349851513 | COL3A1 | c.1171G>C (p.Ala391Pro) c.1270G>C (p.Ala424Pro) | gnomAD v4 |
2 | g.188994309G= | CA1315398469 | COL3A1 | c.1171G= (p.Ala391=) c.1270G= (p.Ala424=) | |
2 | g.188994309G>T | CA62595433 | COL3A1 | c.1171G>T (p.Ala391Ser) c.1270G>T (p.Ala424Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994310C>A | CA349851515 | COL3A1 | c.1172C>A (p.Ala391Asp) c.1271C>A (p.Ala424Asp) | |
2 | g.188994310C>G | CA349851517 | COL3A1 | c.1172C>G (p.Ala391Gly) c.1271C>G (p.Ala424Gly) | |
2 | g.188994310C>T | CA349851518 | COL3A1 | c.1172C>T (p.Ala391Val) c.1271C>T (p.Ala424Val) | |
2 | g.188994311T>A | CA430309494 | COL3A1 | c.1173T>A (p.Ala391=) c.1272T>A (p.Ala424=) | gnomAD v4 |
2 | g.188994311T>C | CA430309495 | COL3A1 | c.1173T>C (p.Ala391=) c.1272T>C (p.Ala424=) | |
2 | g.188994311T>G | CA430309496 | COL3A1 | c.1173T>G (p.Ala391=) c.1272T>G (p.Ala424=) | |
2 | g.188994312C>A | CA349851520 | COL3A1 | c.1174C>A (p.Pro392Thr) c.1273C>A (p.Pro425Thr) | |
2 | g.188994312C= | CA1315398470 | COL3A1 | c.1174C= (p.Pro392=) c.1273C= (p.Pro425=) | |
2 | g.188994312C>G | CA62595442 | COL3A1 | c.1174C>G (p.Pro392Ala) c.1273C>G (p.Pro425Ala) | dbSNP |
2 | g.188994312C>T | CA349851522 | COL3A1 | c.1174C>T (p.Pro392Ser) c.1273C>T (p.Pro425Ser) | |
2 | g.188994313C>A | CA349851524 | COL3A1 | c.1175C>A (p.Pro392His) c.1274C>A (p.Pro425His) | |
2 | g.188994313C>G | CA349851527 | COL3A1 | c.1175C>G (p.Pro392Arg) c.1274C>G (p.Pro425Arg) | |
2 | g.188994313C>T | CA349851525 | COL3A1 | c.1175C>T (p.Pro392Leu) c.1274C>T (p.Pro425Leu) | |
2 | g.188994314T>A | CA430309497 | COL3A1 | c.1176T>A (p.Pro392=) c.1275T>A (p.Pro425=) | ClinVar dbSNP gnomAD v4 |
2 | g.188994314T>C | CA430309498 | COL3A1 | c.1176T>C (p.Pro392=) c.1275T>C (p.Pro425=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994314T>G | CA430309499 | COL3A1 | c.1176T>G (p.Pro392=) c.1275T>G (p.Pro425=) | |
2 | g.188994314T= | CA1315398471 | COL3A1 | c.1176T= (p.Pro392=) c.1275T= (p.Pro425=) | |
2 | g.188994315G>A | CA349851529 | COL3A1 | c.1177G>A (p.Gly393Arg) c.1276G>A (p.Gly426Arg) | |
2 | g.188994315G>C | CA349851531 | COL3A1 | c.1177G>C (p.Gly393Arg) c.1276G>C (p.Gly426Arg) | |
2 | g.188994315G>T | CA349851532 | COL3A1 | c.1177G>T (p.Gly393Ter) c.1276G>T (p.Gly426Ter) | |
2 | g.188994316G>A | CA349851534 | COL3A1 | c.1178G>A (p.Gly393Glu) c.1277G>A (p.Gly426Glu) | ClinVar dbSNP |
2 | g.188994316G>C | CA349851536 | COL3A1 | c.1178G>C (p.Gly393Ala) c.1277G>C (p.Gly426Ala) | dbSNP |
2 | g.188994316G>T | CA349851537 | COL3A1 | c.1178G>T (p.Gly393Val) c.1277G>T (p.Gly426Val) | |
2 | g.188994317A>C | CA430309500 | COL3A1 | c.1179A>C (p.Gly393=) c.1278A>C (p.Gly426=) | |
2 | g.188994317A>G | CA430309501 | COL3A1 | c.1179A>G (p.Gly393=) c.1278A>G (p.Gly426=) | gnomAD v4 |
2 | g.188994317A>T | CA430309502 | COL3A1 | c.1179A>T (p.Gly393=) c.1278A>T (p.Gly426=) | |
2 | g.188994318C>A | CA349851539 | COL3A1 | c.1180C>A (p.Leu394Met) c.1279C>A (p.Leu427Met) | |
2 | g.188994318C>G | CA349851540 | COL3A1 | c.1180C>G (p.Leu394Val) c.1279C>G (p.Leu427Val) | |
2 | g.188994318C>T | CA430309503 | COL3A1 | c.1180C>T (p.Leu394=) c.1279C>T (p.Leu427=) | |
2 | g.188994319T>A | CA349851542 | COL3A1 | c.1181T>A (p.Leu394Gln) c.1280T>A (p.Leu427Gln) | ClinVar |
2 | g.188994319T>C | CA349851543 | COL3A1 | c.1181T>C (p.Leu394Pro) c.1280T>C (p.Leu427Pro) | |
2 | g.188994319T>G | CA349851544 | COL3A1 | c.1181T>G (p.Leu394Arg) c.1280T>G (p.Leu427Arg) | |
2 | g.188994320G>A | CA074066 | COL3A1 | c.1182G>A (p.Leu394=) c.1281G>A (p.Leu427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994320G>C | CA430309504 | COL3A1 | c.1182G>C (p.Leu394=) c.1281G>C (p.Leu427=) | |
2 | g.188994320G= | CA1315398472 | COL3A1 | c.1182G= (p.Leu394=) c.1281G= (p.Leu427=) | |
2 | g.188994320G>T | CA074068 | COL3A1 | c.1182G>T (p.Leu394=) c.1281G>T (p.Leu427=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994321C>A | CA430309505 | COL3A1 | c.1183C>A (p.Arg395=) c.1282C>A (p.Arg428=) | gnomAD v4 |
2 | g.188994321C= | CA1315398473 | COL3A1 | c.1183C= (p.Arg395=) c.1282C= (p.Arg428=) | |
2 | g.188994321C>G | CA349851546 | COL3A1 | c.1183C>G (p.Arg395Gly) c.1282C>G (p.Arg428Gly) | |
2 | g.188994321C>T | CA349851545 | COL3A1 | c.1183C>T (p.Arg395Ter) c.1282C>T (p.Arg428Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.188994322G>A | CA62595449 | COL3A1 | c.1184G>A (p.Arg395Gln) c.1283G>A (p.Arg428Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188994322G>C | CA349851547 | COL3A1 | c.1184G>C (p.Arg395Pro) c.1283G>C (p.Arg428Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994322G= | CA1315398474 | COL3A1 | c.1184G= (p.Arg395=) c.1283G= (p.Arg428=) | |
2 | g.188994322G>T | CA349851549 | COL3A1 | c.1184G>T (p.Arg395Leu) c.1283G>T (p.Arg428Leu) | gnomAD v4 |
2 | g.188994323A= | CA1315398475 | COL3A1 | c.1185A= (p.Arg395=) c.1284A= (p.Arg428=) | |
2 | g.188994323A>C | CA430309506 | COL3A1 | c.1185A>C (p.Arg395=) c.1284A>C (p.Arg428=) | |
2 | g.188994323A>G | CA430309507 | COL3A1 | c.1185A>G (p.Arg395=) c.1284A>G (p.Arg428=) | |
2 | g.188994323A>T | CA074074 | COL3A1 | c.1185A>T (p.Arg395=) c.1284A>T (p.Arg428=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994324G>A | CA349851552 | COL3A1 | c.1186G>A (p.Gly396Ser) c.1285G>A (p.Gly429Ser) | ClinVar dbSNP |
2 | g.188994324G>C | CA349851554 | COL3A1 | c.1186G>C (p.Gly396Arg) c.1285G>C (p.Gly429Arg) | |
2 | g.188994324G= | CA1315398476 | COL3A1 | c.1186G= (p.Gly396=) c.1285G= (p.Gly429=) | |
2 | g.188994324G>T | CA349851556 | COL3A1 | c.1186G>T (p.Gly396Cys) c.1285G>T (p.Gly429Cys) | |
2 | g.188994325G>A | CA349851557 | COL3A1 | c.1187G>A (p.Gly396Asp) c.1286G>A (p.Gly429Asp) | |
2 | g.188994325G>C | CA349851559 | COL3A1 | c.1187G>C (p.Gly396Ala) c.1286G>C (p.Gly429Ala) | |
2 | g.188994325G>T | CA349851560 | COL3A1 | c.1187G>T (p.Gly396Val) c.1286G>T (p.Gly429Val) | |
2 | g.188994326T>A | CA430309508 | COL3A1 | c.1188T>A (p.Gly396=) c.1287T>A (p.Gly429=) | |
2 | g.188994326T>C | CA430309509 | COL3A1 | c.1188T>C (p.Gly396=) c.1287T>C (p.Gly429=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994326T>G | CA430309510 | COL3A1 | c.1188T>G (p.Gly396=) c.1287T>G (p.Gly429=) | |
2 | g.188994326T= | CA1315398477 | COL3A1 | c.1188T= (p.Gly396=) c.1287T= (p.Gly429=) | |
2 | g.188994327G>A | CA349851562 | COL3A1 | c.1189G>A (p.Gly397Ser) c.1288G>A (p.Gly430Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994327G>C | CA349851564 | COL3A1 | c.1189G>C (p.Gly397Arg) c.1288G>C (p.Gly430Arg) | |
2 | g.188994327G= | CA1315398478 | COL3A1 | c.1189G= (p.Gly397=) c.1288G= (p.Gly430=) | |
2 | g.188994327G>T | CA349851565 | COL3A1 | c.1189G>T (p.Gly397Cys) c.1288G>T (p.Gly430Cys) | |
2 | g.188994328G>A | CA349851569 | COL3A1 | c.1190G>A (p.Gly397Asp) c.1289G>A (p.Gly430Asp) | gnomAD v4 |
2 | g.188994328G>C | CA349851568 | COL3A1 | c.1190G>C (p.Gly397Ala) c.1289G>C (p.Gly430Ala) | gnomAD v4 |
2 | g.188994328G= | CA1315398479 | COL3A1 | c.1190G= (p.Gly397=) c.1289G= (p.Gly430=) | |
2 | g.188994328G>T | CA349851567 | COL3A1 | c.1190G>T (p.Gly397Val) c.1289G>T (p.Gly430Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994329T>A | CA430309511 | COL3A1 | c.1191T>A (p.Gly397=) c.1290T>A (p.Gly430=) | |
2 | g.188994329T>C | CA430309512 | COL3A1 | c.1191T>C (p.Gly397=) c.1290T>C (p.Gly430=) | |
2 | g.188994329T>G | CA430309513 | COL3A1 | c.1191T>G (p.Gly397=) c.1290T>G (p.Gly430=) | |
2 | g.188994330G>A | CA349851573 | COL3A1 | c.1192G>A (p.Ala398Thr) c.1291G>A (p.Ala431Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994330G>C | CA349851571 | COL3A1 | c.1192G>C (p.Ala398Pro) c.1291G>C (p.Ala431Pro) | |
2 | g.188994330G= | CA1315398480 | COL3A1 | c.1192G= (p.Ala398=) c.1291G= (p.Ala431=) | |
2 | g.188994330G>T | CA349851574 | COL3A1 | c.1192G>T (p.Ala398Ser) c.1291G>T (p.Ala431Ser) | |
2 | g.188994331C>A | CA349851576 | COL3A1 | c.1193C>A (p.Ala398Glu) c.1292C>A (p.Ala431Glu) | |
2 | g.188994331C>G | CA349851578 | COL3A1 | c.1193C>G (p.Ala398Gly) c.1292C>G (p.Ala431Gly) | |
2 | g.188994331C>T | CA349851577 | COL3A1 | c.1193C>T (p.Ala398Val) c.1292C>T (p.Ala431Val) | |
2 | g.188994332A= | CA1315398481 | COL3A1 | c.1194A= (p.Ala398=) c.1293A= (p.Ala431=) | |
2 | g.188994332A>C | CA430309516 | COL3A1 | c.1194A>C (p.Ala398=) c.1293A>C (p.Ala431=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994332A>G | CA430309515 | COL3A1 | c.1194A>G (p.Ala398=) c.1293A>G (p.Ala431=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994332A>T | CA430309514 | COL3A1 | c.1194A>T (p.Ala398=) c.1293A>T (p.Ala431=) | |
2 | g.188994333G>A | CA349851580 | COL3A1 | c.1194+1G>A (n.1194+1G>A) c.1293+1G>A (n.1293+1G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.188994333G>C | CA349851581 | COL3A1 | c.1194+1G>C (n.1194+1G>C) c.1293+1G>C (n.1293+1G>C) | |
2 | g.188994333G= | CA1315398482 | COL3A1 | c.1194+1G= (n.1194+1G=) c.1293+1G= (n.1293+1G=) | |
2 | g.188994333G>T | CA349851582 | COL3A1 | c.1194+1G>T (n.1194+1G>T) c.1293+1G>T (n.1293+1G>T) | |
2 | g.188994333dup | CA2753572109 | COL3A1 | c.1194+1dup (n.1194+1dup) c.1293+1dup (n.1293+1dup) | |
2 | g.188994334T>A | CA349851583 | COL3A1 | c.1194+2T>A (n.1194+2T>A) c.1293+2T>A (n.1293+2T>A) | |
2 | g.188994334T>C | CA349851585 | COL3A1 | c.1194+2T>C (n.1194+2T>C) c.1293+2T>C (n.1293+2T>C) | |
2 | g.188994334T>G | CA349851587 | COL3A1 | c.1194+2T>G (n.1194+2T>G) c.1293+2T>G (n.1293+2T>G) | |
2 | g.188994334_188994335insTT | CA2577185364 | COL3A1 | c.1194+2_1194+3insTT (n.1194+2_1194+3insTT) c.1293+2_1293+3insTT (n.1293+2_1293+3insTT) | |
2 | g.188994334dup | CA2586965509 | COL3A1 | c.1194+2dup (n.1194+2dup) c.1293+2dup (n.1293+2dup) | |
2 | g.188994334_188994335insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG | CA2753572110 | COL3A1 | c.1194+2_1194+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG (n.1194+2_1194+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG) c.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG (n.1293+2_1293+3insGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCG) | |
2 | g.188994336A= | CA1315398483 | COL3A1 | c.1194+4A= (n.1194+4A=) c.1293+4A= (n.1293+4A=) | |
2 | g.188994336A>G | CA1315398484 | COL3A1 | c.1194+4A>G (n.1194+4A>G) c.1293+4A>G (n.1293+4A>G) | dbSNP gnomAD v4 |
2 | g.188994341C>T | CA2662288938 | COL3A1 | c.1194+9C>T (n.1194+9C>T) c.1293+9C>T (n.1293+9C>T) | gnomAD v4 |
2 | g.188994342C>T | CA2577185365 | COL3A1 | c.1194+10C>T (n.1194+10C>T) c.1293+10C>T (n.1293+10C>T) | |
2 | g.188994343T>C | CA1315398486 | COL3A1 | c.1194+11T>C (n.1194+11T>C) c.1293+11T>C (n.1293+11T>C) | dbSNP |
2 | g.188994343T= | CA1315398485 | COL3A1 | c.1194+11T= (n.1194+11T=) c.1293+11T= (n.1293+11T=) | |
2 | g.188994345G>C | CA074075 | COL3A1 | c.1194+13G>C (n.1194+13G>C) c.1293+13G>C (n.1293+13G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994345G= | CA1315398487 | COL3A1 | c.1194+13G= (n.1194+13G=) c.1293+13G= (n.1293+13G=) | |
2 | g.188994345G>T | CA2662288941 | COL3A1 | c.1194+13G>T (n.1194+13G>T) c.1293+13G>T (n.1293+13G>T) | gnomAD v4 |
2 | g.188994346T>C | CA538441251 | COL3A1 | c.1194+14T>C (n.1194+14T>C) c.1293+14T>C (n.1293+14T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994346T= | CA1315398488 | COL3A1 | c.1194+14T= (n.1194+14T=) c.1293+14T= (n.1293+14T=) | |
2 | g.188994351dup | CA2662288943 | COL3A1 | c.1194+19dup (n.1194+19dup) c.1293+19dup (n.1293+19dup) | gnomAD v4 |
2 | g.188994351del | CA2662288944 | COL3A1 | c.1194+19del (n.1194+19del) c.1293+19del (n.1293+19del) | gnomAD v4 |
2 | g.188994347T>A | CA004199 | COL3A1 | c.1194+15T>A (n.1194+15T>A) c.1293+15T>A (n.1293+15T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994347T>C | CA1315398490 | COL3A1 | c.1194+15T>C (n.1194+15T>C) c.1293+15T>C (n.1293+15T>C) | dbSNP |
2 | g.188994347T>G | CA2581798782 | COL3A1 | c.1194+15T>G (n.1194+15T>G) c.1293+15T>G (n.1293+15T>G) | |
2 | g.188994347T= | CA1315398489 | COL3A1 | c.1194+15T= (n.1194+15T=) c.1293+15T= (n.1293+15T=) | |
2 | g.188994348T>G | CA2753572111 | COL3A1 | c.1194+16T>G (n.1194+16T>G) c.1293+16T>G (n.1293+16T>G) | |
2 | g.188994351T>A | CA538441252 | COL3A1 | c.1194+19T>A (n.1194+19T>A) c.1293+19T>A (n.1293+19T>A) | ClinVar dbSNP gnomAD v2 |
2 | g.188994351T= | CA1315398491 | COL3A1 | c.1194+19T= (n.1194+19T=) c.1293+19T= (n.1293+19T=) | |
2 | g.188994353T>A | CA2662288949 | COL3A1 | c.1194+21T>A (n.1194+21T>A) c.1293+21T>A (n.1293+21T>A) | gnomAD v4 |
2 | g.188994354C>A | CA074081 | COL3A1 | c.1194+22C>A (n.1194+22C>A) c.1293+22C>A (n.1293+22C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994354C= | CA1315398492 | COL3A1 | c.1194+22C= (n.1194+22C=) c.1293+22C= (n.1293+22C=) | |
2 | g.188994354C>T | CA074084 | COL3A1 | c.1194+22C>T (n.1194+22C>T) c.1293+22C>T (n.1293+22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994356G>C | CA2662288955 | COL3A1 | c.1194+24G>C (n.1194+24G>C) c.1293+24G>C (n.1293+24G>C) | gnomAD v4 |
2 | g.188994356G>T | CA2662288957 | COL3A1 | c.1194+24G>T (n.1194+24G>T) c.1293+24G>T (n.1293+24G>T) | gnomAD v4 |
2 | g.188994357T>C | CA62595473 | COL3A1 | c.1194+25T>C (n.1194+25T>C) c.1293+25T>C (n.1293+25T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994357T= | CA1315398493 | COL3A1 | c.1194+25T= (n.1194+25T=) c.1293+25T= (n.1293+25T=) | |
2 | g.188994363G>A | CA2577185366 | COL3A1 | c.1194+31G>A (n.1194+31G>A) c.1293+31G>A (n.1293+31G>A) | gnomAD v4 |
2 | g.188994366A>T | CA2753572112 | COL3A1 | c.1194+34A>T (n.1194+34A>T) c.1293+34A>T (n.1293+34A>T) | |
2 | g.188994367G>A | CA2662288959 | COL3A1 | c.1194+35G>A (n.1194+35G>A) c.1293+35G>A (n.1293+35G>A) | gnomAD v4 |
2 | g.188994367G= | CA1315398494 | COL3A1 | c.1194+35G= (n.1194+35G=) c.1293+35G= (n.1293+35G=) | |
2 | g.188994367G>T | CA1315398495 | COL3A1 | c.1194+35G>T (n.1194+35G>T) c.1293+35G>T (n.1293+35G>T) | dbSNP |
2 | g.188994368G>C | CA074086 | COL3A1 | c.1194+36G>C (n.1194+36G>C) c.1293+36G>C (n.1293+36G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994368G= | CA1315398496 | COL3A1 | c.1194+36G= (n.1194+36G=) c.1293+36G= (n.1293+36G=) | |
2 | g.188994368G>T | CA62595485 | COL3A1 | c.1194+36G>T (n.1194+36G>T) c.1293+36G>T (n.1293+36G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994370A>G | CA2662288964 | COL3A1 | c.1194+38A>G (n.1194+38A>G) c.1293+38A>G (n.1293+38A>G) | gnomAD v4 |
2 | g.188994371T>C | CA538441253 | COL3A1 | c.1194+39T>C (n.1194+39T>C) c.1293+39T>C (n.1293+39T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994371T= | CA1315398497 | COL3A1 | c.1194+39T= (n.1194+39T=) c.1293+39T= (n.1293+39T=) | |
2 | g.188994372A= | CA1315398498 | COL3A1 | c.1194+40A= (n.1194+40A=) c.1293+40A= (n.1293+40A=) | |
2 | g.188994372A>G | CA538441254 | COL3A1 | c.1194+40A>G (n.1194+40A>G) c.1293+40A>G (n.1293+40A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994373G>C | CA538441255 | COL3A1 | c.1194+41G>C (n.1194+41G>C) c.1293+41G>C (n.1293+41G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994373G= | CA1315398499 | COL3A1 | c.1194+41G= (n.1194+41G=) c.1293+41G= (n.1293+41G=) | |
2 | g.188994374T>C | CA2577185367 | COL3A1 | c.1194+42T>C (n.1194+42T>C) c.1293+42T>C (n.1293+42T>C) | |
2 | g.188994376del | CA647380865 | COL3A1 | c.1194+44del (n.1194+44del) c.1293+44del (n.1293+44del) | COSMIC |
2 | g.188994378A>T | CA2753572113 | COL3A1 | c.1194+46A>T (n.1194+46A>T) c.1293+46A>T (n.1293+46A>T) | |
2 | g.188994381C= | CA1315398500 | COL3A1 | c.1194+49C= (n.1194+49C=) c.1293+49C= (n.1293+49C=) | |
2 | g.188994381C>G | CA1315398501 | COL3A1 | c.1194+49C>G (n.1194+49C>G) c.1293+49C>G (n.1293+49C>G) | dbSNP |
2 | g.188994381C>T | CA2662288967 | COL3A1 | c.1194+49C>T (n.1194+49C>T) c.1293+49C>T (n.1293+49C>T) | gnomAD v4 |
2 | g.188994382C>A | CA2577185368 | COL3A1 | c.1194+50C>A (n.1194+50C>A) c.1293+50C>A (n.1293+50C>A) | |
2 | g.188994382C>T | CA2662288973 | COL3A1 | c.1194+50C>T (n.1194+50C>T) c.1293+50C>T (n.1293+50C>T) | gnomAD v4 |
2 | g.188994383A>G | CA2662288974 | COL3A1 | c.1194+51A>G (n.1194+51A>G) c.1293+51A>G (n.1293+51A>G) | gnomAD v4 |
2 | g.188994384T>C | CA2505266636 | COL3A1 | c.1194+52T>C (n.1194+52T>C) c.1293+52T>C (n.1293+52T>C) | gnomAD v4 |
2 | g.188994385C>A | CA2662288976 | COL3A1 | c.1194+53C>A (n.1194+53C>A) c.1293+53C>A (n.1293+53C>A) | gnomAD v4 |
2 | g.188994386A>G | CA647380868 | COL3A1 | c.1194+54A>G (n.1194+54A>G) c.1293+54A>G (n.1293+54A>G) | COSMIC |
2 | g.188994388C>T | CA2662288977 | COL3A1 | c.1194+56C>T (n.1194+56C>T) c.1293+56C>T (n.1293+56C>T) | gnomAD v4 |
2 | g.188994388_188994389delinsCA | CA1315398502 | COL3A1 | c.1194+56_1194+57delinsCA (n.1194+56_1194+57delinsCA) c.1293+56_1293+57delinsCA (n.1293+56_1293+57delinsCA) | |
2 | g.188994394del | CA62595506 | COL3A1 | c.1194+62del (n.1194+62del) c.1293+62del (n.1293+62del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994392_188994393insCCAAACACACCCAACAC | CA2753572114 | COL3A1 | c.1194+60_1194+61insCCAAACACACCCAACAC (n.1194+60_1194+61insCCAAACACACCCAACAC) c.1293+60_1293+61insCCAAACACACCCAACAC (n.1293+60_1293+61insCCAAACACACCCAACAC) | |
2 | g.188994393A= | CA1315398503 | COL3A1 | c.1194+61A= (n.1194+61A=) c.1293+61A= (n.1293+61A=) | |
2 | g.188994393A>G | CA1315398504 | COL3A1 | c.1194+61A>G (n.1194+61A>G) c.1293+61A>G (n.1293+61A>G) | dbSNP |