Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.188989409_188996315del | CA281702 | COL3A1 | c.650_1564-83del c.650_1663-83del | ClinVar |
2 | g.188994246A= | CA1315398433 | COL3A1 | c.1108A= (p.Ile370=) c.1207A= (p.Ile403=) c.206A= | |
2 | g.188994246A>C | CA349851352 | COL3A1 | c.1108A>C (p.Ile370Leu) c.1207A>C (p.Ile403Leu) c.206A>C | |
2 | g.188994246A>G | CA349851354 | COL3A1 | c.1108A>G (p.Ile370Val) c.1207A>G (p.Ile403Val) c.206A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994246A>T | CA349851353 | COL3A1 | c.1108A>T (p.Ile370Phe) c.1207A>T (p.Ile403Phe) c.206A>T | |
2 | g.188994247T>A | CA349851355 | COL3A1 | c.1109T>A (p.Ile370Asn) c.1208T>A (p.Ile403Asn) c.207T>A | |
2 | g.188994247T>C | CA349851356 | COL3A1 | c.1109T>C (p.Ile370Thr) c.1208T>C (p.Ile403Thr) c.207T>C | gnomAD v4 |
2 | g.188994247T>G | CA349851358 | COL3A1 | c.1109T>G (p.Ile370Ser) c.1208T>G (p.Ile403Ser) c.207T>G | |
2 | g.188994248T>A | CA430309443 | COL3A1 | c.1110T>A (p.Ile370=) c.1209T>A (p.Ile403=) c.208T>A | |
2 | g.188994248T>C | CA430309444 | COL3A1 | c.1110T>C (p.Ile370=) c.1209T>C (p.Ile403=) c.208T>C | |
2 | g.188994248T>G | CA349851359 | COL3A1 | c.1110T>G (p.Ile370Met) c.1209T>G (p.Ile403Met) c.208T>G | |
2 | g.188994249C>A | CA349851362 | COL3A1 | c.1111C>A (p.Pro371Thr) c.1210C>A (p.Pro404Thr) c.209C>A | |
2 | g.188994249C>G | CA349851360 | COL3A1 | c.1111C>G (p.Pro371Ala) c.1210C>G (p.Pro404Ala) c.209C>G | |
2 | g.188994249C>T | CA349851361 | COL3A1 | c.1111C>T (p.Pro371Ser) c.1210C>T (p.Pro404Ser) c.209C>T | gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188994250C>A | CA349851363 | COL3A1 | c.1112C>A (p.Pro371His) c.1211C>A (p.Pro404His) c.210C>A | |
2 | g.188994250C>G | CA349851364 | COL3A1 | c.1112C>G (p.Pro371Arg) c.1211C>G (p.Pro404Arg) c.210C>G | |
2 | g.188994250C>T | CA349851365 | COL3A1 | c.1112C>T (p.Pro371Leu) c.1211C>T (p.Pro404Leu) c.210C>T | |
2 | g.188994251T>A | CA430309447 | COL3A1 | c.1113T>A (p.Pro371=) c.1212T>A (p.Pro404=) c.211T>A | |
2 | g.188994251T>C | CA430309446 | COL3A1 | c.1113T>C (p.Pro371=) c.1212T>C (p.Pro404=) c.211T>C | |
2 | g.188994251T>G | CA430309445 | COL3A1 | c.1113T>G (p.Pro371=) c.1212T>G (p.Pro404=) c.211T>G | |
2 | g.188994252G>A | CA349851366 | COL3A1 | c.1114G>A (p.Gly372Arg) c.1213G>A (p.Gly405Arg) c.212G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994252G>C | CA349851367 | COL3A1 | c.1114G>C (p.Gly372Arg) c.1213G>C (p.Gly405Arg) c.212G>C | |
2 | g.188994252G= | CA1315398434 | COL3A1 | c.1114G= (p.Gly372=) c.1213G= (p.Gly405=) c.212G= | |
2 | g.188994252G>T | CA349851368 | COL3A1 | c.1114G>T (p.Gly372Ter) c.1213G>T (p.Gly405Ter) c.212G>T | |
2 | g.188994253G>A | CA349851369 | COL3A1 | c.1115G>A (p.Gly372Glu) c.1214G>A (p.Gly405Glu) c.213G>A | COSMIC |
2 | g.188994253G>C | CA349851371 | COL3A1 | c.1115G>C (p.Gly372Ala) c.1214G>C (p.Gly405Ala) c.213G>C | gnomAD v4 |
2 | g.188994253G>T | CA349851372 | COL3A1 | c.1115G>T (p.Gly372Val) c.1214G>T (p.Gly405Val) c.213G>T | |
2 | g.188994254A>C | CA430309448 | COL3A1 | c.1116A>C (p.Gly372=) c.1215A>C (p.Gly405=) c.214A>C | |
2 | g.188994254A>G | CA430309449 | COL3A1 | c.1116A>G (p.Gly372=) c.1215A>G (p.Gly405=) c.214A>G | |
2 | g.188994254A>T | CA430309450 | COL3A1 | c.1116A>T (p.Gly372=) c.1215A>T (p.Gly405=) c.214A>T | |
2 | g.188994255G>A | CA349851373 | COL3A1 | c.1117G>A (p.Ala373Thr) c.1216G>A (p.Ala406Thr) c.215G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994255G>C | CA349851374 | COL3A1 | c.1117G>C (p.Ala373Pro) c.1216G>C (p.Ala406Pro) c.215G>C | ClinVar dbSNP |
2 | g.188994255G= | CA1315398435 | COL3A1 | c.1117G= (p.Ala373=) c.1216G= (p.Ala406=) c.215G= | |
2 | g.188994255G>T | CA349851376 | COL3A1 | c.1117G>T (p.Ala373Ser) c.1216G>T (p.Ala406Ser) c.215G>T | gnomAD v4 |
2 | g.188994256C>A | CA349851377 | COL3A1 | c.1118C>A (p.Ala373Asp) c.1217C>A (p.Ala406Asp) c.216C>A | |
2 | g.188994256C>G | CA349851379 | COL3A1 | c.1118C>G (p.Ala373Gly) c.1217C>G (p.Ala406Gly) c.216C>G | |
2 | g.188994256C>T | CA349851378 | COL3A1 | c.1118C>T (p.Ala373Val) c.1217C>T (p.Ala406Val) c.216C>T | |
2 | g.188994257T>A | CA430309451 | COL3A1 | c.1119T>A (p.Ala373=) c.1218T>A (p.Ala406=) c.217T>A | gnomAD v4 |
2 | g.188994257T>C | CA430309452 | COL3A1 | c.1119T>C (p.Ala373=) c.1218T>C (p.Ala406=) c.217T>C | |
2 | g.188994257T>G | CA430309453 | COL3A1 | c.1119T>G (p.Ala373=) c.1218T>G (p.Ala406=) c.217T>G | gnomAD v4 |
2 | g.188994258C>A | CA349851381 | COL3A1 | c.1120C>A (p.Pro374Thr) c.1219C>A (p.Pro407Thr) c.218C>A | |
2 | g.188994258C>G | CA349851382 | COL3A1 | c.1120C>G (p.Pro374Ala) c.1219C>G (p.Pro407Ala) c.218C>G | |
2 | g.188994258C>T | CA349851383 | COL3A1 | c.1120C>T (p.Pro374Ser) c.1219C>T (p.Pro407Ser) c.218C>T | COSMIC COSMIC |
2 | g.188994259C>A | CA349851384 | COL3A1 | c.1121C>A (p.Pro374His) c.1220C>A (p.Pro407His) c.219C>A | |
2 | g.188994259C>G | CA349851385 | COL3A1 | c.1121C>G (p.Pro374Arg) c.1220C>G (p.Pro407Arg) c.219C>G | |
2 | g.188994259C>T | CA349851386 | COL3A1 | c.1121C>T (p.Pro374Leu) c.1220C>T (p.Pro407Leu) c.219C>T | dbSNP |
2 | g.188994260T>A | CA430309454 | COL3A1 | c.1122T>A (p.Pro374=) c.1221T>A (p.Pro407=) c.220T>A | |
2 | g.188994260T>C | CA430309455 | COL3A1 | c.1122T>C (p.Pro374=) c.1221T>C (p.Pro407=) c.220T>C | gnomAD v4 |
2 | g.188994260T>G | CA430309456 | COL3A1 | c.1122T>G (p.Pro374=) c.1221T>G (p.Pro407=) c.220T>G | |
2 | g.188994261G>A | CA16617390 | COL3A1 | c.1123G>A (p.Gly375Arg) c.1222G>A (p.Gly408Arg) c.221G>A | ClinVar dbSNP |
2 | g.188994261G>C | CA349851388 | COL3A1 | c.1123G>C (p.Gly375Arg) c.1222G>C (p.Gly408Arg) c.221G>C | |
2 | g.188994261G= | CA1315398436 | COL3A1 | c.1123G= (p.Gly375=) c.1222G= (p.Gly408=) c.221G= | |
2 | g.188994261G>T | CA349851389 | COL3A1 | c.1123G>T (p.Gly375Ter) c.1222G>T (p.Gly408Ter) c.221G>T | |
2 | g.188994262G>A | CA004140 | COL3A1 | c.1124G>A (p.Gly375Glu) c.1223G>A (p.Gly408Glu) c.222G>A | ClinVar dbSNP |
2 | g.188994262G>C | CA349851391 | COL3A1 | c.1124G>C (p.Gly375Ala) c.1223G>C (p.Gly408Ala) c.222G>C | |
2 | g.188994262G= | CA1315398437 | COL3A1 | c.1124G= (p.Gly375=) c.1223G= (p.Gly408=) c.222G= | |
2 | g.188994262G>T | CA349851392 | COL3A1 | c.1124G>T (p.Gly375Val) c.1223G>T (p.Gly408Val) c.222G>T | ClinVar dbSNP |
2 | g.188994263A>C | CA430309457 | COL3A1 | c.1125A>C (p.Gly375=) c.1224A>C (p.Gly408=) c.223A>C | ClinVar dbSNP |
2 | g.188994263A>G | CA430309458 | COL3A1 | c.1125A>G (p.Gly375=) c.1224A>G (p.Gly408=) c.223A>G | |
2 | g.188994263A>T | CA430309459 | COL3A1 | c.1125A>T (p.Gly375=) c.1224A>T (p.Gly408=) c.223A>T | |
2 | g.188994264C>A | CA349851393 | COL3A1 | c.1126C>A (p.Leu376Met) c.1225C>A (p.Leu409Met) c.224C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.188994264C= | CA1315398438 | COL3A1 | c.1126C= (p.Leu376=) c.1225C= (p.Leu409=) c.224C= | |
2 | g.188994264C>G | CA62595242 | COL3A1 | c.1126C>G (p.Leu376Val) c.1225C>G (p.Leu409Val) c.224C>G | ClinVar dbSNP gnomAD v4 |
2 | g.188994264C>T | CA430309460 | COL3A1 | c.1126C>T (p.Leu376=) c.1225C>T (p.Leu409=) c.224C>T | gnomAD v4 |
2 | g.188994265T>A | CA349851395 | COL3A1 | c.1127T>A (p.Leu376Gln) c.1226T>A (p.Leu409Gln) c.225T>A | |
2 | g.188994265T>C | CA349851396 | COL3A1 | c.1127T>C (p.Leu376Pro) c.1226T>C (p.Leu409Pro) c.225T>C | |
2 | g.188994265T>G | CA349851397 | COL3A1 | c.1127T>G (p.Leu376Arg) c.1226T>G (p.Leu409Arg) c.225T>G | |
2 | g.188994266G>A | CA430309461 | COL3A1 | c.1128G>A (p.Leu376=) c.1227G>A (p.Leu409=) c.226G>A | |
2 | g.188994266G>C | CA430309462 | COL3A1 | c.1128G>C (p.Leu376=) c.1227G>C (p.Leu409=) c.226G>C | |
2 | g.188994266G= | CA1315398439 | COL3A1 | c.1128G= (p.Leu376=) c.1227G= (p.Leu409=) c.226G= | |
2 | g.188994266G>T | CA430309463 | COL3A1 | c.1128G>T (p.Leu376=) c.1227G>T (p.Leu409=) c.226G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994267A= | CA1315398440 | COL3A1 | c.1129A= (p.Met377=) c.1228A= (p.Met410=) c.227A= | |
2 | g.188994267A>C | CA349851398 | COL3A1 | c.1129A>C (p.Met377Leu) c.1228A>C (p.Met410Leu) c.227A>C | |
2 | g.188994267A>G | CA074000 | COL3A1 | c.1129A>G (p.Met377Val) c.1228A>G (p.Met410Val) c.227A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994267A>T | CA349851399 | COL3A1 | c.1129A>T (p.Met377Leu) c.1228A>T (p.Met410Leu) c.227A>T | |
2 | g.188994268T>A | CA349851400 | COL3A1 | c.1130T>A (p.Met377Lys) c.1229T>A (p.Met410Lys) c.228T>A | |
2 | g.188994268T>C | CA349851401 | COL3A1 | c.1130T>C (p.Met377Thr) c.1229T>C (p.Met410Thr) c.228T>C | ClinVar dbSNP COSMIC COSMIC |
2 | g.188994268T>G | CA349851403 | COL3A1 | c.1130T>G (p.Met377Arg) c.1229T>G (p.Met410Arg) c.228T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994268T= | CA1315398441 | COL3A1 | c.1130T= (p.Met377=) c.1229T= (p.Met410=) c.228T= | |
2 | g.188994269G>A | CA349851404 | COL3A1 | c.1131G>A (p.Met377Ile) c.1230G>A (p.Met410Ile) c.229G>A | |
2 | g.188994269G>C | CA349851405 | COL3A1 | c.1131G>C (p.Met377Ile) c.1230G>C (p.Met410Ile) c.229G>C | |
2 | g.188994269G>T | CA349851406 | COL3A1 | c.1131G>T (p.Met377Ile) c.1230G>T (p.Met410Ile) c.229G>T | ClinVar dbSNP |
2 | g.188994270G>A | CA349851408 | COL3A1 | c.1132G>A (p.Gly378Arg) c.1231G>A (p.Gly411Arg) c.230G>A | |
2 | g.188994270G>C | CA004145 | COL3A1 | c.1132G>C (p.Gly378Arg) c.1231G>C (p.Gly411Arg) c.230G>C | ClinVar dbSNP |
2 | g.188994270G= | CA1315398442 | COL3A1 | c.1132G= (p.Gly378=) c.1231G= (p.Gly411=) c.230G= | |
2 | g.188994270G>T | CA349851407 | COL3A1 | c.1132G>T (p.Gly378Ter) c.1231G>T (p.Gly411Ter) c.230G>T | |
2 | g.188994271G>A | CA10587526 | COL3A1 | c.1133G>A (p.Gly378Glu) c.1232G>A (p.Gly411Glu) c.231G>A | ClinVar dbSNP |
2 | g.188994271G>C | CA349851411 | COL3A1 | c.1133G>C (p.Gly378Ala) c.1232G>C (p.Gly411Ala) c.231G>C | |
2 | g.188994271G= | CA1315398443 | COL3A1 | c.1133G= (p.Gly378=) c.1232G= (p.Gly411=) c.231G= | |
2 | g.188994271G>T | CA349851410 | COL3A1 | c.1133G>T (p.Gly378Val) c.1232G>T (p.Gly411Val) c.231G>T | gnomAD v4 |
2 | g.188994272A= | CA1315398444 | COL3A1 | c.1134A= (p.Gly378=) c.1233A= (p.Gly411=) c.232A= | |
2 | g.188994272A>C | CA430309465 | COL3A1 | c.1134A>C (p.Gly378=) c.1233A>C (p.Gly411=) c.232A>C | |
2 | g.188994272A>G | CA430309464 | COL3A1 | c.1134A>G (p.Gly378=) c.1233A>G (p.Gly411=) c.232A>G | dbSNP gnomAD v2 |
2 | g.188994272A>T | CA074005 | COL3A1 | c.1134A>T (p.Gly378=) c.1233A>T (p.Gly411=) c.232A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994273G>A | CA349851416 | COL3A1 | c.1135G>A (p.Ala379Thr) c.1234G>A (p.Ala412Thr) c.233G>A | ClinVar dbSNP gnomAD v4 |
2 | g.188994273G>C | CA349851413 | COL3A1 | c.1135G>C (p.Ala379Pro) c.1234G>C (p.Ala412Pro) c.233G>C | |
2 | g.188994273G= | CA1315398445 | COL3A1 | c.1135G= (p.Ala379=) c.1234G= (p.Ala412=) c.233G= | |
2 | g.188994273G>T | CA004150 | COL3A1 | c.1135G>T (p.Ala379Ser) c.1234G>T (p.Ala412Ser) c.233G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994274C>A | CA62595297 | COL3A1 | c.1136C>A (p.Ala379Asp) c.1235C>A (p.Ala412Asp) c.234C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.188994274C= | CA1315398446 | COL3A1 | c.1136C= (p.Ala379=) c.1235C= (p.Ala412=) c.234C= | |
2 | g.188994274C>G | CA349851417 | COL3A1 | c.1136C>G (p.Ala379Gly) c.1235C>G (p.Ala412Gly) c.234C>G | |
2 | g.188994274C>T | CA16043988 | COL3A1 | c.1136C>T (p.Ala379Val) c.1235C>T (p.Ala412Val) c.234C>T | ClinVar dbSNP gnomAD v4 |
2 | g.188994275C>A | CA430309466 | COL3A1 | c.1137C>A (p.Ala379=) c.1236C>A (p.Ala412=) c.235C>A | |
2 | g.188994275C>G | CA430309467 | COL3A1 | c.1137C>G (p.Ala379=) c.1236C>G (p.Ala412=) c.235C>G | |
2 | g.188994275C>T | CA430309468 | COL3A1 | c.1137C>T (p.Ala379=) c.1236C>T (p.Ala412=) c.235C>T | |
2 | g.188994276C>A | CA074015 | COL3A1 | c.1138C>A (p.Arg380=) c.1237C>A (p.Arg413=) c.236C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994276C= | CA1315398447 | COL3A1 | c.1138C= (p.Arg380=) c.1237C= (p.Arg413=) c.236C= | |
2 | g.188994276C>G | CA349851420 | COL3A1 | c.1138C>G (p.Arg380Gly) c.1237C>G (p.Arg413Gly) c.236C>G | |
2 | g.188994276C>T | CA349851421 | COL3A1 | c.1138C>T (p.Arg380Trp) c.1237C>T (p.Arg413Trp) c.236C>T | ClinVar gnomAD v4 |
2 | g.188994277G>A | CA074019 | COL3A1 | c.1139G>A (p.Arg380Gln) c.1238G>A (p.Arg413Gln) c.237G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.188994277G>C | CA349851424 | COL3A1 | c.1139G>C (p.Arg380Pro) c.1238G>C (p.Arg413Pro) c.237G>C | |
2 | g.188994277G= | CA1315398448 | COL3A1 | c.1139G= (p.Arg380=) c.1238G= (p.Arg413=) c.237G= | |
2 | g.188994277G>T | CA349851426 | COL3A1 | c.1139G>T (p.Arg380Leu) c.1238G>T (p.Arg413Leu) c.237G>T | |
2 | g.188994278G>A | CA430309470 | COL3A1 | c.1140G>A (p.Arg380=) c.1239G>A (p.Arg413=) c.238G>A | ClinVar dbSNP |
2 | g.188994278G>C | CA074023 | COL3A1 | c.1140G>C (p.Arg380=) c.1239G>C (p.Arg413=) c.238G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994278G= | CA1315398449 | COL3A1 | c.1140G= (p.Arg380=) c.1239G= (p.Arg413=) c.238G= | |
2 | g.188994278G>T | CA430309469 | COL3A1 | c.1140G>T (p.Arg380=) c.1239G>T (p.Arg413=) c.238G>T | |
2 | g.188994279G>A | CA349851430 | COL3A1 | c.1141G>A (p.Gly381Ser) c.1240G>A (p.Gly414Ser) c.239G>A | ClinVar |
2 | g.188994279G>C | CA349851428 | COL3A1 | c.1141G>C (p.Gly381Arg) c.1240G>C (p.Gly414Arg) c.239G>C | |
2 | g.188994279G= | CA1315398450 | COL3A1 | c.1141G= (p.Gly381=) c.1240G= (p.Gly414=) c.239G= | |
2 | g.188994279G>T | CA004154 | COL3A1 | c.1141G>T (p.Gly381Cys) c.1240G>T (p.Gly414Cys) c.239G>T | ClinVar dbSNP |
2 | g.188994280G>A | CA10587529 | COL3A1 | c.1142G>A (p.Gly381Asp) c.1241G>A (p.Gly414Asp) c.240G>A | ClinVar dbSNP |
2 | g.188994280G>C | CA349851431 | COL3A1 | c.1142G>C (p.Gly381Ala) c.1241G>C (p.Gly414Ala) c.240G>C | |
2 | g.188994280G= | CA1315398451 | COL3A1 | c.1142G= (p.Gly381=) c.1241G= (p.Gly414=) c.240G= | |
2 | g.188994280G>T | CA004160 | COL3A1 | c.1142G>T (p.Gly381Val) c.1241G>T (p.Gly414Val) c.240G>T | ClinVar dbSNP |
2 | g.188994281T>A | CA430309471 | COL3A1 | c.1143T>A (p.Gly381=) c.1242T>A (p.Gly414=) c.241T>A | |
2 | g.188994281T>C | CA430309472 | COL3A1 | c.1143T>C (p.Gly381=) c.1242T>C (p.Gly414=) c.241T>C | |
2 | g.188994281T>G | CA430309473 | COL3A1 | c.1143T>G (p.Gly381=) c.1242T>G (p.Gly414=) c.241T>G | |
2 | g.188994282C>A | CA349851433 | COL3A1 | c.1144C>A (p.Pro382Thr) c.1243C>A (p.Pro415Thr) c.242C>A | |
2 | g.188994282C>G | CA349851435 | COL3A1 | c.1144C>G (p.Pro382Ala) c.1243C>G (p.Pro415Ala) c.242C>G | |
2 | g.188994282C>T | CA349851436 | COL3A1 | c.1144C>T (p.Pro382Ser) c.1243C>T (p.Pro415Ser) c.242C>T | dbSNP |
2 | g.188994283C>A | CA349851437 | COL3A1 | c.1145C>A (p.Pro382His) c.1244C>A (p.Pro415His) c.243C>A | ClinVar dbSNP |
2 | g.188994283C= | CA1315398452 | COL3A1 | c.1145C= (p.Pro382=) c.1244C= (p.Pro415=) c.243C= | |
2 | g.188994283C>G | CA349851438 | COL3A1 | c.1145C>G (p.Pro382Arg) c.1244C>G (p.Pro415Arg) c.243C>G | |
2 | g.188994283C>T | CA349851439 | COL3A1 | c.1145C>T (p.Pro382Leu) c.1244C>T (p.Pro415Leu) c.243C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.188994284T>A | CA430309474 | COL3A1 | c.1146T>A (p.Pro382=) c.1245T>A (p.Pro415=) c.244T>A | |
2 | g.188994284T>C | CA074032 | COL3A1 | c.1146T>C (p.Pro382=) c.1245T>C (p.Pro415=) c.244T>C | dbSNP ExAC |
2 | g.188994284T>G | CA430309475 | COL3A1 | c.1146T>G (p.Pro382=) c.1245T>G (p.Pro415=) c.244T>G | |
2 | g.188994284T= | CA1315398453 | COL3A1 | c.1146T= (p.Pro382=) c.1245T= (p.Pro415=) c.244T= | |
2 | g.188994285C>A | CA349851445 | COL3A1 | c.1147C>A (p.Pro383Thr) c.1246C>A (p.Pro416Thr) c.245C>A | gnomAD v4 |
2 | g.188994285C>G | CA349851443 | COL3A1 | c.1147C>G (p.Pro383Ala) c.1246C>G (p.Pro416Ala) c.245C>G | |
2 | g.188994285C>T | CA349851442 | COL3A1 | c.1147C>T (p.Pro383Ser) c.1246C>T (p.Pro416Ser) c.245C>T | COSMIC COSMIC |
2 | g.188994286C>A | CA074037 | COL3A1 | c.1148C>A (p.Pro383Gln) c.1247C>A (p.Pro416Gln) c.246C>A | dbSNP ExAC |
2 | g.188994286C= | CA1315398454 | COL3A1 | c.1148C= (p.Pro383=) c.1247C= (p.Pro416=) c.246C= | |
2 | g.188994286C>G | CA349851448 | COL3A1 | c.1148C>G (p.Pro383Arg) c.1247C>G (p.Pro416Arg) c.246C>G | |
2 | g.188994286C>T | CA349851450 | COL3A1 | c.1148C>T (p.Pro383Leu) c.1247C>T (p.Pro416Leu) c.246C>T | |
2 | g.188994287A= | CA1315398455 | COL3A1 | c.1149A= (p.Pro383=) c.1248A= (p.Pro416=) c.247A= | |
2 | g.188994287A>C | CA430309476 | COL3A1 | c.1149A>C (p.Pro383=) c.1248A>C (p.Pro416=) c.247A>C | |
2 | g.188994287A>G | CA074042 | COL3A1 | c.1149A>G (p.Pro383=) c.1248A>G (p.Pro416=) c.247A>G | dbSNP ExAC gnomAD v4 |
2 | g.188994287A>T | CA430309477 | COL3A1 | c.1149A>T (p.Pro383=) c.1248A>T (p.Pro416=) c.247A>T | |
2 | g.188994288G>A | CA004166 | COL3A1 | c.1150G>A (p.Gly384Arg) c.1249G>A (p.Gly417Arg) c.248G>A | ClinVar dbSNP |
2 | g.188994288G>C | CA349851452 | COL3A1 | c.1150G>C (p.Gly384Arg) c.1249G>C (p.Gly417Arg) c.248G>C | ClinVar dbSNP |
2 | g.188994288G= | CA1315398456 | COL3A1 | c.1150G= (p.Gly384=) c.1249G= (p.Gly417=) c.248G= | |
2 | g.188994288G>T | CA349851454 | COL3A1 | c.1150G>T (p.Gly384Ter) c.1249G>T (p.Gly417Ter) c.248G>T | |
2 | g.188994289G>A | CA349851455 | COL3A1 | c.1151G>A (p.Gly384Glu) c.1250G>A (p.Gly417Glu) c.249G>A | |
2 | g.188994289G>C | CA074045 | COL3A1 | c.1151G>C (p.Gly384Ala) c.1250G>C (p.Gly417Ala) c.249G>C | dbSNP ExAC |
2 | g.188994289G= | CA1315398457 | COL3A1 | c.1151G= (p.Gly384=) c.1250G= (p.Gly417=) c.249G= | |
2 | g.188994289G>T | CA349851457 | COL3A1 | c.1151G>T (p.Gly384Val) c.1250G>T (p.Gly417Val) c.249G>T | gnomAD v4 |
2 | g.188994290A= | CA1315398458 | COL3A1 | c.1152A= (p.Gly384=) c.1251A= (p.Gly417=) c.250A= | |
2 | g.188994290A>C | CA074048 | COL3A1 | c.1152A>C (p.Gly384=) c.1251A>C (p.Gly417=) c.250A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.188994290A>G | CA430309478 | COL3A1 | c.1152A>G (p.Gly384=) c.1251A>G (p.Gly417=) c.250A>G | |
2 | g.188994290A>T | CA430309479 | COL3A1 | c.1152A>T (p.Gly384=) c.1251A>T (p.Gly417=) c.250A>T | |
2 | g.188994291C>A | CA349851463 | COL3A1 | c.1153C>A (p.Pro385Thr) c.1252C>A (p.Pro418Thr) c.251C>A | |
2 | g.188994291C>G | CA349851461 | COL3A1 | c.1153C>G (p.Pro385Ala) c.1252C>G (p.Pro418Ala) c.251C>G | |
2 | g.188994291C>T | CA349851459 | COL3A1 | c.1153C>T (p.Pro385Ser) c.1252C>T (p.Pro418Ser) c.251C>T | |
2 | g.188994292C>A | CA349851465 | COL3A1 | c.1154C>A (p.Pro385Gln) c.1253C>A (p.Pro418Gln) c.252C>A | dbSNP |
2 | g.188994292C= | CA1315398459 | COL3A1 | c.1154C= (p.Pro385=) c.1253C= (p.Pro418=) c.252C= | |
2 | g.188994292C>G | CA349851467 | COL3A1 | c.1154C>G (p.Pro385Arg) c.1253C>G (p.Pro418Arg) c.252C>G | |
2 | g.188994292C>T | CA349851468 | COL3A1 | c.1154C>T (p.Pro385Leu) c.1253C>T (p.Pro418Leu) c.252C>T | gnomAD v4 |
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 |