Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
2 | g.189005611_189008365del | CA913190217 | COL3A1 | c.2940+154_3426+223del c.3039+154_3525+223del c.2528-2443_2616+223del | ClinVar |
2 | g.189006079_189007097del | CA913190218 | COL3A1 | c.2941-127_3156+107del c.3040-127_3255+107del c.2528-1975_2528-957del (n.2528-1975_2528-957del) | ClinVar |
2 | g.189006936_189006945delinsGGGCCCTGCT | CA1315404337 | COL3A1 | c.3103-1_3111delinsGGGCCCTGCT c.3202-1_3210delinsGGGCCCTGCT c.2528-1118_2528-1109delinsGGGCCCTGCT (n.2528-1118_2528-1109delinsGGGCCCTGCT) | |
2 | g.189006948_189006956dup | CA2021756 | COL3A1 | c.3114_3122dup (p.Gly1041_Ala1042insProAlaGly) c.3213_3221dup (p.Gly1074_Ala1075insProAlaGly) c.2528-1106_2528-1098dup (n.2528-1106_2528-1098dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189006948_189006956del | CA1315404338 | COL3A1 | c.3114_3122del (p.Pro1039_Gly1041del) c.3213_3221del (p.Pro1072_Gly1074del) c.2528-1106_2528-1098del (n.2528-1106_2528-1098del) | ClinVar dbSNP gnomAD v4 |
2 | g.189006939_189006965del | CA2586970927 | COL3A1 | c.3105_3131del (p.Pro1036_Gly1044del) c.3204_3230del (p.Pro1069_Gly1077del) c.2528-1115_2528-1089del (n.2528-1115_2528-1089del) | |
2 | g.189006939C>A | CA430313030 | COL3A1 | c.3105C>A (p.Gly1035=) c.3204C>A (p.Gly1068=) c.2528-1115C>A (n.2528-1115C>A) | gnomAD v4 |
2 | g.189006939C>G | CA430313032 | COL3A1 | c.3105C>G (p.Gly1035=) c.3204C>G (p.Gly1068=) c.2528-1115C>G (n.2528-1115C>G) | |
2 | g.189006939C>T | CA430313033 | COL3A1 | c.3105C>T (p.Gly1035=) c.3204C>T (p.Gly1068=) c.2528-1115C>T (n.2528-1115C>T) | |
2 | g.189006940C>A | CA349845234 | COL3A1 | c.3106C>A (p.Pro1036Thr) c.3205C>A (p.Pro1069Thr) c.2528-1114C>A (n.2528-1114C>A) | dbSNP gnomAD v2 |
2 | g.189006940C= | CA1315404341 | COL3A1 | c.3106C= (p.Pro1036=) c.3205C= (p.Pro1069=) c.2528-1114C= (n.2528-1114C=) | |
2 | g.189006940C>G | CA349845235 | COL3A1 | c.3106C>G (p.Pro1036Ala) c.3205C>G (p.Pro1069Ala) c.2528-1114C>G (n.2528-1114C>G) | |
2 | g.189006940C>T | CA10587534 | COL3A1 | c.3106C>T (p.Pro1036Ser) c.3205C>T (p.Pro1069Ser) c.2528-1114C>T (n.2528-1114C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189006941C>A | CA349845237 | COL3A1 | c.3107C>A (p.Pro1036His) c.3206C>A (p.Pro1069His) c.2528-1113C>A (n.2528-1113C>A) | |
2 | g.189006941C>G | CA349845238 | COL3A1 | c.3107C>G (p.Pro1036Arg) c.3206C>G (p.Pro1069Arg) c.2528-1113C>G (n.2528-1113C>G) | |
2 | g.189006941C>T | CA349845236 | COL3A1 | c.3107C>T (p.Pro1036Leu) c.3206C>T (p.Pro1069Leu) c.2528-1113C>T (n.2528-1113C>T) | |
2 | g.189006942T>A | CA430313037 | COL3A1 | c.3108T>A (p.Pro1036=) c.3207T>A (p.Pro1069=) c.2528-1112T>A (n.2528-1112T>A) | |
2 | g.189006942T>C | CA430313039 | COL3A1 | c.3108T>C (p.Pro1036=) c.3207T>C (p.Pro1069=) c.2528-1112T>C (n.2528-1112T>C) | dbSNP |
2 | g.189006942T>G | CA075946 | COL3A1 | c.3108T>G (p.Pro1036=) c.3207T>G (p.Pro1069=) c.2528-1112T>G (n.2528-1112T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189006942T= | CA1315404342 | COL3A1 | c.3108T= (p.Pro1036=) c.3207T= (p.Pro1069=) c.2528-1112T= (n.2528-1112T=) | |
2 | g.189006943G>A | CA349845239 | COL3A1 | c.3109G>A (p.Ala1037Thr) c.3208G>A (p.Ala1070Thr) c.2528-1111G>A (n.2528-1111G>A) | gnomAD v4 |
2 | g.189006943G>C | CA349845240 | COL3A1 | c.3109G>C (p.Ala1037Pro) c.3208G>C (p.Ala1070Pro) c.2528-1111G>C (n.2528-1111G>C) | gnomAD v4 |
2 | g.189006943G= | CA1315404343 | COL3A1 | c.3109G= (p.Ala1037=) c.3208G= (p.Ala1070=) c.2528-1111G= (n.2528-1111G=) | |
2 | g.189006943G>T | CA075949 | COL3A1 | c.3109G>T (p.Ala1037Ser) c.3208G>T (p.Ala1070Ser) c.2528-1111G>T (n.2528-1111G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189006944C>A | CA349845241 | COL3A1 | c.3110C>A (p.Ala1037Asp) c.3209C>A (p.Ala1070Asp) c.2528-1110C>A (n.2528-1110C>A) | COSMIC |
2 | g.189006944C= | CA1315404344 | COL3A1 | c.3110C= (p.Ala1037=) c.3209C= (p.Ala1070=) c.2528-1110C= (n.2528-1110C=) | |
2 | g.189006944C>G | CA349845242 | COL3A1 | c.3110C>G (p.Ala1037Gly) c.3209C>G (p.Ala1070Gly) c.2528-1110C>G (n.2528-1110C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189006944C>T | CA349845243 | COL3A1 | c.3110C>T (p.Ala1037Val) c.3209C>T (p.Ala1070Val) c.2528-1110C>T (n.2528-1110C>T) | gnomAD v4 |
2 | g.189006945T>A | CA430313046 | COL3A1 | c.3111T>A (p.Ala1037=) c.3210T>A (p.Ala1070=) c.2528-1109T>A (n.2528-1109T>A) | |
2 | g.189006945T>C | CA430313048 | COL3A1 | c.3111T>C (p.Ala1037=) c.3210T>C (p.Ala1070=) c.2528-1109T>C (n.2528-1109T>C) | |
2 | g.189006945T>G | CA430313047 | COL3A1 | c.3111T>G (p.Ala1037=) c.3210T>G (p.Ala1070=) c.2528-1109T>G (n.2528-1109T>G) | |
2 | g.189006946G>A | CA349845244 | COL3A1 | c.3112G>A (p.Gly1038Ser) c.3211G>A (p.Gly1071Ser) c.2528-1108G>A (n.2528-1108G>A) | |
2 | g.189006946G>C | CA349845245 | COL3A1 | c.3112G>C (p.Gly1038Arg) c.3211G>C (p.Gly1071Arg) c.2528-1108G>C (n.2528-1108G>C) | |
2 | g.189006946G>T | CA349845246 | COL3A1 | c.3112G>T (p.Gly1038Cys) c.3211G>T (p.Gly1071Cys) c.2528-1108G>T (n.2528-1108G>T) | |
2 | g.189006947G>A | CA349845247 | COL3A1 | c.3113G>A (p.Gly1038Asp) c.3212G>A (p.Gly1071Asp) c.2528-1107G>A (n.2528-1107G>A) | |
2 | g.189006947G>C | CA349845248 | COL3A1 | c.3113G>C (p.Gly1038Ala) c.3212G>C (p.Gly1071Ala) c.2528-1107G>C (n.2528-1107G>C) | |
2 | g.189006947G= | CA1315404345 | COL3A1 | c.3113G= (p.Gly1038=) c.3212G= (p.Gly1071=) c.2528-1107G= (n.2528-1107G=) | |
2 | g.189006947G>T | CA006192 | COL3A1 | c.3113G>T (p.Gly1038Val) c.3212G>T (p.Gly1071Val) c.2528-1107G>T (n.2528-1107G>T) | ClinVar dbSNP |
2 | g.189006948C>A | CA430313054 | COL3A1 | c.3114C>A (p.Gly1038=) c.3213C>A (p.Gly1071=) c.2528-1106C>A (n.2528-1106C>A) | |
2 | g.189006948C= | CA1315404346 | COL3A1 | c.3114C= (p.Gly1038=) c.3213C= (p.Gly1071=) c.2528-1106C= (n.2528-1106C=) | |
2 | g.189006948C>G | CA430313056 | COL3A1 | c.3114C>G (p.Gly1038=) c.3213C>G (p.Gly1071=) c.2528-1106C>G (n.2528-1106C>G) | |
2 | g.189006948C>T | CA430313058 | COL3A1 | c.3114C>T (p.Gly1038=) c.3213C>T (p.Gly1071=) c.2528-1106C>T (n.2528-1106C>T) | dbSNP |
2 | g.189006948_189006966delinsCCCTGCTGGTGCTCCCGGT | CA1315404347 | COL3A1 | c.3114_3132delinsCCCTGCTGGTGCTCCCGGT (p.Gly1038=) c.3213_3231delinsCCCTGCTGGTGCTCCCGGT (p.Gly1071=) c.2528-1106_2528-1088delinsCCCTGCTGGTGCTCCCGGT (n.2528-1106_2528-1088delinsCCCTGCTGGTGCTCCCGGT) | |
2 | g.189006949C>A | CA349845251 | COL3A1 | c.3115C>A (p.Pro1039Thr) c.3214C>A (p.Pro1072Thr) c.2528-1105C>A (n.2528-1105C>A) | |
2 | g.189006949C= | CA1315404348 | COL3A1 | c.3115C= (p.Pro1039=) c.3214C= (p.Pro1072=) c.2528-1105C= (n.2528-1105C=) | |
2 | g.189006949C>G | CA349845250 | COL3A1 | c.3115C>G (p.Pro1039Ala) c.3214C>G (p.Pro1072Ala) c.2528-1105C>G (n.2528-1105C>G) | |
2 | g.189006949C>T | CA349845249 | COL3A1 | c.3115C>T (p.Pro1039Ser) c.3214C>T (p.Pro1072Ser) c.2528-1105C>T (n.2528-1105C>T) | ClinVar dbSNP |
2 | g.189006958_189006975del | CA006203 | COL3A1 | c.3124_3141del (p.Ala1042_Gly1047del) c.3223_3240del (p.Ala1075_Gly1080del) c.2528-1096_2528-1079del (n.2528-1096_2528-1079del) | ClinVar dbSNP |
2 | g.189006950C>A | CA349845252 | COL3A1 | c.3116C>A (p.Pro1039His) c.3215C>A (p.Pro1072His) c.2528-1104C>A (n.2528-1104C>A) | |
2 | g.189006950C= | CA1315404349 | COL3A1 | c.3116C= (p.Pro1039=) c.3215C= (p.Pro1072=) c.2528-1104C= (n.2528-1104C=) | |
2 | g.189006950C>G | CA349845253 | COL3A1 | c.3116C>G (p.Pro1039Arg) c.3215C>G (p.Pro1072Arg) c.2528-1104C>G (n.2528-1104C>G) | |
2 | g.189006950C>T | CA349845254 | COL3A1 | c.3116C>T (p.Pro1039Leu) c.3215C>T (p.Pro1072Leu) c.2528-1104C>T (n.2528-1104C>T) | dbSNP gnomAD v4 |
2 | g.189006951T>A | CA430313064 | COL3A1 | c.3117T>A (p.Pro1039=) c.3216T>A (p.Pro1072=) c.2528-1103T>A (n.2528-1103T>A) | |
2 | g.189006951T>C | CA430313066 | COL3A1 | c.3117T>C (p.Pro1039=) c.3216T>C (p.Pro1072=) c.2528-1103T>C (n.2528-1103T>C) | |
2 | g.189006951T>G | CA430313068 | COL3A1 | c.3117T>G (p.Pro1039=) c.3216T>G (p.Pro1072=) c.2528-1103T>G (n.2528-1103T>G) | |
2 | g.189006952G>A | CA349845255 | COL3A1 | c.3118G>A (p.Ala1040Thr) c.3217G>A (p.Ala1073Thr) c.2528-1102G>A (n.2528-1102G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.189006952G>C | CA349845256 | COL3A1 | c.3118G>C (p.Ala1040Pro) c.3217G>C (p.Ala1073Pro) c.2528-1102G>C (n.2528-1102G>C) | |
2 | g.189006952G= | CA1315404350 | COL3A1 | c.3118G= (p.Ala1040=) c.3217G= (p.Ala1073=) c.2528-1102G= (n.2528-1102G=) | |
2 | g.189006952G>T | CA349845257 | COL3A1 | c.3118G>T (p.Ala1040Ser) c.3217G>T (p.Ala1073Ser) c.2528-1102G>T (n.2528-1102G>T) | |
2 | g.189006953C>A | CA349845258 | COL3A1 | c.3119C>A (p.Ala1040Asp) c.3218C>A (p.Ala1073Asp) c.2528-1101C>A (n.2528-1101C>A) | |
2 | g.189006953C>G | CA349845259 | COL3A1 | c.3119C>G (p.Ala1040Gly) c.3218C>G (p.Ala1073Gly) c.2528-1101C>G (n.2528-1101C>G) | gnomAD v4 |
2 | g.189006953C>T | CA349845260 | COL3A1 | c.3119C>T (p.Ala1040Val) c.3218C>T (p.Ala1073Val) c.2528-1101C>T (n.2528-1101C>T) | |
2 | g.189006956_189006970dup | CA2586970928 | COL3A1 | c.3122_3136dup (p.Pro1045_Ala1046insGlyAlaProGlyPro) c.3221_3235dup (p.Pro1078_Ala1079insGlyAlaProGlyPro) c.2528-1098_2528-1084dup (n.2528-1098_2528-1084dup) | |
2 | g.189006954T>A | CA430313075 | COL3A1 | c.3120T>A (p.Ala1040=) c.3219T>A (p.Ala1073=) c.2528-1100T>A (n.2528-1100T>A) | |
2 | g.189006954T>C | CA430313076 | COL3A1 | c.3120T>C (p.Ala1040=) c.3219T>C (p.Ala1073=) c.2528-1100T>C (n.2528-1100T>C) | gnomAD v4 |
2 | g.189006954T>G | CA075951 | COL3A1 | c.3120T>G (p.Ala1040=) c.3219T>G (p.Ala1073=) c.2528-1100T>G (n.2528-1100T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189006954T= | CA1315404351 | COL3A1 | c.3120T= (p.Ala1040=) c.3219T= (p.Ala1073=) c.2528-1100T= (n.2528-1100T=) | |
2 | g.189006954_189006957dup | CA2586970929 | COL3A1 | c.3120_3123dup (p.Ala1042TrpfsTer20) c.3219_3222dup (p.Ala1075TrpfsTer20) c.2528-1100_2528-1097dup (n.2528-1100_2528-1097dup) | |
2 | g.189006955G>A | CA006198 | COL3A1 | c.3121G>A (p.Gly1041Ser) c.3220G>A (p.Gly1074Ser) c.2528-1099G>A (n.2528-1099G>A) | ClinVar dbSNP COSMIC |
2 | g.189006955G>C | CA349845261 | COL3A1 | c.3121G>C (p.Gly1041Arg) c.3220G>C (p.Gly1074Arg) c.2528-1099G>C (n.2528-1099G>C) | |
2 | g.189006955G= | CA1315404352 | COL3A1 | c.3121G= (p.Gly1041=) c.3220G= (p.Gly1074=) c.2528-1099G= (n.2528-1099G=) | |
2 | g.189006955G>T | CA349845262 | COL3A1 | c.3121G>T (p.Gly1041Cys) c.3220G>T (p.Gly1074Cys) c.2528-1099G>T (n.2528-1099G>T) | gnomAD v4 |
2 | g.189006956G>A | CA349845264 | COL3A1 | c.3122G>A (p.Gly1041Asp) c.3221G>A (p.Gly1074Asp) c.2528-1098G>A (n.2528-1098G>A) | ClinVar dbSNP |
2 | g.189006956G>C | CA349845263 | COL3A1 | c.3122G>C (p.Gly1041Ala) c.3221G>C (p.Gly1074Ala) c.2528-1098G>C (n.2528-1098G>C) | |
2 | g.189006956G>T | CA349845265 | COL3A1 | c.3122G>T (p.Gly1041Val) c.3221G>T (p.Gly1074Val) c.2528-1098G>T (n.2528-1098G>T) | |
2 | g.189006957T>A | CA430313081 | COL3A1 | c.3123T>A (p.Gly1041=) c.3222T>A (p.Gly1074=) c.2528-1097T>A (n.2528-1097T>A) | |
2 | g.189006957T>C | CA430313082 | COL3A1 | c.3123T>C (p.Gly1041=) c.3222T>C (p.Gly1074=) c.2528-1097T>C (n.2528-1097T>C) | dbSNP gnomAD v4 |
2 | g.189006957T>G | CA16610640 | COL3A1 | c.3123T>G (p.Gly1041=) c.3222T>G (p.Gly1074=) c.2528-1097T>G (n.2528-1097T>G) | ClinVar dbSNP gnomAD v4 |
2 | g.189006957T= | CA1315404353 | COL3A1 | c.3123T= (p.Gly1041=) c.3222T= (p.Gly1074=) c.2528-1097T= (n.2528-1097T=) | |
2 | g.189006958G>A | CA349845266 | COL3A1 | c.3124G>A (p.Ala1042Thr) c.3223G>A (p.Ala1075Thr) c.2528-1096G>A (n.2528-1096G>A) | |
2 | g.189006958G>C | CA349845267 | COL3A1 | c.3124G>C (p.Ala1042Pro) c.3223G>C (p.Ala1075Pro) c.2528-1096G>C (n.2528-1096G>C) | dbSNP |
2 | g.189006958G= | CA1315404354 | COL3A1 | c.3124G= (p.Ala1042=) c.3223G= (p.Ala1075=) c.2528-1096G= (n.2528-1096G=) | |
2 | g.189006958G>T | CA349845268 | COL3A1 | c.3124G>T (p.Ala1042Ser) c.3223G>T (p.Ala1075Ser) c.2528-1096G>T (n.2528-1096G>T) | |
2 | g.189006959C>A | CA349845269 | COL3A1 | c.3125C>A (p.Ala1042Asp) c.3224C>A (p.Ala1075Asp) c.2528-1095C>A (n.2528-1095C>A) | |
2 | g.189006959C= | CA1315404355 | COL3A1 | c.3125C= (p.Ala1042=) c.3224C= (p.Ala1075=) c.2528-1095C= (n.2528-1095C=) | |
2 | g.189006959C>G | CA349845270 | COL3A1 | c.3125C>G (p.Ala1042Gly) c.3224C>G (p.Ala1075Gly) c.2528-1095C>G (n.2528-1095C>G) | COSMIC |
2 | g.189006959C>T | CA62559927 | COL3A1 | c.3125C>T (p.Ala1042Val) c.3224C>T (p.Ala1075Val) c.2528-1095C>T (n.2528-1095C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189006960T>A | CA430313091 | COL3A1 | c.3126T>A (p.Ala1042=) c.3225T>A (p.Ala1075=) c.2528-1094T>A (n.2528-1094T>A) | |
2 | g.189006960T>C | CA430313092 | COL3A1 | c.3126T>C (p.Ala1042=) c.3225T>C (p.Ala1075=) c.2528-1094T>C (n.2528-1094T>C) | |
2 | g.189006960T>G | CA430313095 | COL3A1 | c.3126T>G (p.Ala1042=) c.3225T>G (p.Ala1075=) c.2528-1094T>G (n.2528-1094T>G) | |
2 | g.189006961C>A | CA349845271 | COL3A1 | c.3127C>A (p.Pro1043Thr) c.3226C>A (p.Pro1076Thr) c.2528-1093C>A (n.2528-1093C>A) | |
2 | g.189006961C= | CA1315404356 | COL3A1 | c.3127C= (p.Pro1043=) c.3226C= (p.Pro1076=) c.2528-1093C= (n.2528-1093C=) | |
2 | g.189006961C>G | CA349845273 | COL3A1 | c.3127C>G (p.Pro1043Ala) c.3226C>G (p.Pro1076Ala) c.2528-1093C>G (n.2528-1093C>G) | gnomAD v4 |
2 | g.189006961C>T | CA349845272 | COL3A1 | c.3127C>T (p.Pro1043Ser) c.3226C>T (p.Pro1076Ser) c.2528-1093C>T (n.2528-1093C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189006962C>A | CA349845274 | COL3A1 | c.3128C>A (p.Pro1043His) c.3227C>A (p.Pro1076His) c.2528-1092C>A (n.2528-1092C>A) | |
2 | g.189006962C= | CA1315404357 | COL3A1 | c.3128C= (p.Pro1043=) c.3227C= (p.Pro1076=) c.2528-1092C= (n.2528-1092C=) | |
2 | g.189006962C>G | CA349845275 | COL3A1 | c.3128C>G (p.Pro1043Arg) c.3227C>G (p.Pro1076Arg) c.2528-1092C>G (n.2528-1092C>G) | ClinVar dbSNP |
2 | g.189006962C>T | CA349845276 | COL3A1 | c.3128C>T (p.Pro1043Leu) c.3227C>T (p.Pro1076Leu) c.2528-1092C>T (n.2528-1092C>T) | |
2 | g.189006963C>A | CA430313102 | COL3A1 | c.3129C>A (p.Pro1043=) c.3228C>A (p.Pro1076=) c.2528-1091C>A (n.2528-1091C>A) | |
2 | g.189006963C= | CA1315404358 | COL3A1 | c.3129C= (p.Pro1043=) c.3228C= (p.Pro1076=) c.2528-1091C= (n.2528-1091C=) | |
2 | g.189006963C>G | CA430313105 | COL3A1 | c.3129C>G (p.Pro1043=) c.3228C>G (p.Pro1076=) c.2528-1091C>G (n.2528-1091C>G) | |
2 | g.189006963C>T | CA075953 | COL3A1 | c.3129C>T (p.Pro1043=) c.3228C>T (p.Pro1076=) c.2528-1091C>T (n.2528-1091C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189006964G>A | CA10587541 | COL3A1 | c.3130G>A (p.Gly1044Ser) c.3229G>A (p.Gly1077Ser) c.2528-1090G>A (n.2528-1090G>A) | ClinVar dbSNP |
2 | g.189006964G>C | CA349845278 | COL3A1 | c.3130G>C (p.Gly1044Arg) c.3229G>C (p.Gly1077Arg) c.2528-1090G>C (n.2528-1090G>C) | |
2 | g.189006964G= | CA1315404359 | COL3A1 | c.3130G= (p.Gly1044=) c.3229G= (p.Gly1077=) c.2528-1090G= (n.2528-1090G=) | |
2 | g.189006964G>T | CA349845277 | COL3A1 | c.3130G>T (p.Gly1044Cys) c.3229G>T (p.Gly1077Cys) c.2528-1090G>T (n.2528-1090G>T) | |
2 | g.189006965G>A | CA349845279 | COL3A1 | c.3131G>A (p.Gly1044Asp) c.3230G>A (p.Gly1077Asp) c.2528-1089G>A (n.2528-1089G>A) | COSMIC |
2 | g.189006965G>C | CA349845280 | COL3A1 | c.3131G>C (p.Gly1044Ala) c.3230G>C (p.Gly1077Ala) c.2528-1089G>C (n.2528-1089G>C) | |
2 | g.189006965G= | CA1315404360 | COL3A1 | c.3131G= (p.Gly1044=) c.3230G= (p.Gly1077=) c.2528-1089G= (n.2528-1089G=) | |
2 | g.189006965G>T | CA006214 | COL3A1 | c.3131G>T (p.Gly1044Val) c.3230G>T (p.Gly1077Val) c.2528-1089G>T (n.2528-1089G>T) | ClinVar dbSNP |
2 | g.189006966T>A | CA430313120 | COL3A1 | c.3132T>A (p.Gly1044=) c.3231T>A (p.Gly1077=) c.2528-1088T>A (n.2528-1088T>A) | |
2 | g.189006966T>C | CA430313118 | COL3A1 | c.3132T>C (p.Gly1044=) c.3231T>C (p.Gly1077=) c.2528-1088T>C (n.2528-1088T>C) | |
2 | g.189006966T>G | CA430313114 | COL3A1 | c.3132T>G (p.Gly1044=) c.3231T>G (p.Gly1077=) c.2528-1088T>G (n.2528-1088T>G) | |
2 | g.189006967C>A | CA349845281 | COL3A1 | c.3133C>A (p.Pro1045Thr) c.3232C>A (p.Pro1078Thr) c.2528-1087C>A (n.2528-1087C>A) | |
2 | g.189006967C= | CA1315404361 | COL3A1 | c.3133C= (p.Pro1045=) c.3232C= (p.Pro1078=) c.2528-1087C= (n.2528-1087C=) | |
2 | g.189006967C>G | CA349845282 | COL3A1 | c.3133C>G (p.Pro1045Ala) c.3232C>G (p.Pro1078Ala) c.2528-1087C>G (n.2528-1087C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189006967C>T | CA349845283 | COL3A1 | c.3133C>T (p.Pro1045Ser) c.3232C>T (p.Pro1078Ser) c.2528-1087C>T (n.2528-1087C>T) | gnomAD v4 |
2 | g.189006968C>A | CA349845284 | COL3A1 | c.3134C>A (p.Pro1045His) c.3233C>A (p.Pro1078His) c.2528-1086C>A (n.2528-1086C>A) | gnomAD v4 |
2 | g.189006968C>G | CA349845285 | COL3A1 | c.3134C>G (p.Pro1045Arg) c.3233C>G (p.Pro1078Arg) c.2528-1086C>G (n.2528-1086C>G) | |
2 | g.189006968C>T | CA349845286 | COL3A1 | c.3134C>T (p.Pro1045Leu) c.3233C>T (p.Pro1078Leu) c.2528-1086C>T (n.2528-1086C>T) | |
2 | g.189006969T>A | CA430313134 | COL3A1 | c.3135T>A (p.Pro1045=) c.3234T>A (p.Pro1078=) c.2528-1085T>A (n.2528-1085T>A) | |
2 | g.189006969T>C | CA430313133 | COL3A1 | c.3135T>C (p.Pro1045=) c.3234T>C (p.Pro1078=) c.2528-1085T>C (n.2528-1085T>C) | |
2 | g.189006969T>G | CA430313129 | COL3A1 | c.3135T>G (p.Pro1045=) c.3234T>G (p.Pro1078=) c.2528-1085T>G (n.2528-1085T>G) | |
2 | g.189006970G>A | CA349845287 | COL3A1 | c.3136G>A (p.Ala1046Thr) c.3235G>A (p.Ala1079Thr) c.2528-1084G>A (n.2528-1084G>A) | gnomAD v4 |
2 | g.189006970G>C | CA349845288 | COL3A1 | c.3136G>C (p.Ala1046Pro) c.3235G>C (p.Ala1079Pro) c.2528-1084G>C (n.2528-1084G>C) | |
2 | g.189006970G= | CA1315404362 | COL3A1 | c.3136G= (p.Ala1046=) c.3235G= (p.Ala1079=) c.2528-1084G= (n.2528-1084G=) | |
2 | g.189006970G>T | CA349845289 | COL3A1 | c.3136G>T (p.Ala1046Ser) c.3235G>T (p.Ala1079Ser) c.2528-1084G>T (n.2528-1084G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.189006971C>A | CA349845291 | COL3A1 | c.3137C>A (p.Ala1046Asp) c.3236C>A (p.Ala1079Asp) c.2528-1083C>A (n.2528-1083C>A) | |
2 | g.189006971C= | CA1315404363 | COL3A1 | c.3137C= (p.Ala1046=) c.3236C= (p.Ala1079=) c.2528-1083C= (n.2528-1083C=) | |
2 | g.189006971C>G | CA349845292 | COL3A1 | c.3137C>G (p.Ala1046Gly) c.3236C>G (p.Ala1079Gly) c.2528-1083C>G (n.2528-1083C>G) | dbSNP |
2 | g.189006971C>T | CA349845290 | COL3A1 | c.3137C>T (p.Ala1046Val) c.3236C>T (p.Ala1079Val) c.2528-1083C>T (n.2528-1083C>T) | gnomAD v4 |
2 | g.189006972T>A | CA430313140 | COL3A1 | c.3138T>A (p.Ala1046=) c.3237T>A (p.Ala1079=) c.2528-1082T>A (n.2528-1082T>A) | |
2 | g.189006972T>C | CA430313142 | COL3A1 | c.3138T>C (p.Ala1046=) c.3237T>C (p.Ala1079=) c.2528-1082T>C (n.2528-1082T>C) | gnomAD v4 |
2 | g.189006972T>G | CA430313141 | COL3A1 | c.3138T>G (p.Ala1046=) c.3237T>G (p.Ala1079=) c.2528-1082T>G (n.2528-1082T>G) | |
2 | g.189006973G>A | CA349845295 | COL3A1 | c.3139G>A (p.Gly1047Ser) c.3238G>A (p.Gly1080Ser) c.2528-1081G>A (n.2528-1081G>A) | |
2 | g.189006973G>C | CA349845293 | COL3A1 | c.3139G>C (p.Gly1047Arg) c.3238G>C (p.Gly1080Arg) c.2528-1081G>C (n.2528-1081G>C) | |
2 | g.189006973G>T | CA349845294 | COL3A1 | c.3139G>T (p.Gly1047Cys) c.3238G>T (p.Gly1080Cys) c.2528-1081G>T (n.2528-1081G>T) | |
2 | g.189006974G>A | CA006219 | COL3A1 | c.3140G>A (p.Gly1047Asp) c.3239G>A (p.Gly1080Asp) c.2528-1080G>A (n.2528-1080G>A) | ClinVar dbSNP |
2 | g.189006974G>C | CA349845296 | COL3A1 | c.3140G>C (p.Gly1047Ala) c.3239G>C (p.Gly1080Ala) c.2528-1080G>C (n.2528-1080G>C) | |
2 | g.189006974G= | CA1315404364 | COL3A1 | c.3140G= (p.Gly1047=) c.3239G= (p.Gly1080=) c.2528-1080G= (n.2528-1080G=) | |
2 | g.189006974G>T | CA349845297 | COL3A1 | c.3140G>T (p.Gly1047Val) c.3239G>T (p.Gly1080Val) c.2528-1080G>T (n.2528-1080G>T) | |
2 | g.189006975T>A | CA430313144 | COL3A1 | c.3141T>A (p.Gly1047=) c.3240T>A (p.Gly1080=) c.2528-1079T>A (n.2528-1079T>A) | |
2 | g.189006975T>C | CA430313145 | COL3A1 | c.3141T>C (p.Gly1047=) c.3240T>C (p.Gly1080=) c.2528-1079T>C (n.2528-1079T>C) | gnomAD v4 |
2 | g.189006975T>G | CA430313146 | COL3A1 | c.3141T>G (p.Gly1047=) c.3240T>G (p.Gly1080=) c.2528-1079T>G (n.2528-1079T>G) | |
2 | g.189006976T>A | CA349845298 | COL3A1 | c.3142T>A (p.Ser1048Thr) c.3241T>A (p.Ser1081Thr) c.2528-1078T>A (n.2528-1078T>A) | |
2 | g.189006976T>C | CA349845299 | COL3A1 | c.3142T>C (p.Ser1048Pro) c.3241T>C (p.Ser1081Pro) c.2528-1078T>C (n.2528-1078T>C) | |
2 | g.189006976T>G | CA349845300 | COL3A1 | c.3142T>G (p.Ser1048Ala) c.3241T>G (p.Ser1081Ala) c.2528-1078T>G (n.2528-1078T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189006976T= | CA1315404365 | COL3A1 | c.3142T= (p.Ser1048=) c.3241T= (p.Ser1081=) c.2528-1078T= (n.2528-1078T=) | |
2 | g.189006977C>A | CA349845301 | COL3A1 | c.3143C>A (p.Ser1048Tyr) c.3242C>A (p.Ser1081Tyr) c.2528-1077C>A (n.2528-1077C>A) | |
2 | g.189006977C= | CA1315404366 | COL3A1 | c.3143C= (p.Ser1048=) c.3242C= (p.Ser1081=) c.2528-1077C= (n.2528-1077C=) | |
2 | g.189006977C>G | CA349845302 | COL3A1 | c.3143C>G (p.Ser1048Cys) c.3242C>G (p.Ser1081Cys) c.2528-1077C>G (n.2528-1077C>G) | |
2 | g.189006977C>T | CA62559954 | COL3A1 | c.3143C>T (p.Ser1048Phe) c.3242C>T (p.Ser1081Phe) c.2528-1077C>T (n.2528-1077C>T) | dbSNP gnomAD v4 |
2 | g.189006978C>A | CA430313153 | COL3A1 | c.3144C>A (p.Ser1048=) c.3243C>A (p.Ser1081=) c.2528-1076C>A (n.2528-1076C>A) | |
2 | g.189006978C>G | CA430313155 | COL3A1 | c.3144C>G (p.Ser1048=) c.3243C>G (p.Ser1081=) c.2528-1076C>G (n.2528-1076C>G) | |
2 | g.189006978C>T | CA430313156 | COL3A1 | c.3144C>T (p.Ser1048=) c.3243C>T (p.Ser1081=) c.2528-1076C>T (n.2528-1076C>T) | |
2 | g.189006979C>A | CA430313157 | COL3A1 | c.3145C>A (p.Arg1049=) c.3244C>A (p.Arg1082=) c.2528-1075C>A (n.2528-1075C>A) | |
2 | g.189006979C>G | CA349845303 | COL3A1 | c.3145C>G (p.Arg1049Gly) c.3244C>G (p.Arg1082Gly) c.2528-1075C>G (n.2528-1075C>G) | |
2 | g.189006979C>T | CA349845304 | COL3A1 | c.3145C>T (p.Arg1049Ter) c.3244C>T (p.Arg1082Ter) c.2528-1075C>T (n.2528-1075C>T) | ClinVar gnomAD v3 gnomAD v4 COSMIC |
2 | g.189006980G>A | CA006225 | COL3A1 | c.3146G>A (p.Arg1049Gln) c.3245G>A (p.Arg1082Gln) c.2528-1074G>A (n.2528-1074G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189006980G>C | CA349845305 | COL3A1 | c.3146G>C (p.Arg1049Pro) c.3245G>C (p.Arg1082Pro) c.2528-1074G>C (n.2528-1074G>C) | |
2 | g.189006980G= | CA1315404367 | COL3A1 | c.3146G= (p.Arg1049=) c.3245G= (p.Arg1082=) c.2528-1074G= (n.2528-1074G=) | |
2 | g.189006980G>T | CA349845306 | COL3A1 | c.3146G>T (p.Arg1049Leu) c.3245G>T (p.Arg1082Leu) c.2528-1074G>T (n.2528-1074G>T) | |
2 | g.189006981A>C | CA430313158 | COL3A1 | c.3147A>C (p.Arg1049=) c.3246A>C (p.Arg1082=) c.2528-1073A>C (n.2528-1073A>C) | |
2 | g.189006981A>G | CA430313159 | COL3A1 | c.3147A>G (p.Arg1049=) c.3246A>G (p.Arg1082=) c.2528-1073A>G (n.2528-1073A>G) | |
2 | g.189006981A>T | CA430313160 | COL3A1 | c.3147A>T (p.Arg1049=) c.3246A>T (p.Arg1082=) c.2528-1073A>T (n.2528-1073A>T) | |
2 | g.189006982G>A | CA349845307 | COL3A1 | c.3148G>A (p.Gly1050Ser) c.3247G>A (p.Gly1083Ser) c.2528-1072G>A (n.2528-1072G>A) | |
2 | g.189006982G>C | CA349845309 | COL3A1 | c.3148G>C (p.Gly1050Arg) c.3247G>C (p.Gly1083Arg) c.2528-1072G>C (n.2528-1072G>C) | |
2 | g.189006982G>T | CA349845308 | COL3A1 | c.3148G>T (p.Gly1050Cys) c.3247G>T (p.Gly1083Cys) c.2528-1072G>T (n.2528-1072G>T) | |
2 | g.189006983G>A | CA349845310 | COL3A1 | c.3149G>A (p.Gly1050Asp) c.3248G>A (p.Gly1083Asp) c.2528-1071G>A (n.2528-1071G>A) | ClinVar |
2 | g.189006983G>C | CA349845311 | COL3A1 | c.3149G>C (p.Gly1050Ala) c.3248G>C (p.Gly1083Ala) c.2528-1071G>C (n.2528-1071G>C) | |
2 | g.189006983G>T | CA349845312 | COL3A1 | c.3149G>T (p.Gly1050Val) c.3248G>T (p.Gly1083Val) c.2528-1071G>T (n.2528-1071G>T) | |
2 | g.189006984T>A | CA430313167 | COL3A1 | c.3150T>A (p.Gly1050=) c.3249T>A (p.Gly1083=) c.2528-1070T>A (n.2528-1070T>A) | |
2 | g.189006984T>C | CA430313168 | COL3A1 | c.3150T>C (p.Gly1050=) c.3249T>C (p.Gly1083=) c.2528-1070T>C (n.2528-1070T>C) | |
2 | g.189006984T>G | CA430313169 | COL3A1 | c.3150T>G (p.Gly1050=) c.3249T>G (p.Gly1083=) c.2528-1070T>G (n.2528-1070T>G) | ClinVar dbSNP |
2 | g.189006985G>A | CA62559982 | COL3A1 | c.3151G>A (p.Ala1051Thr) c.3250G>A (p.Ala1084Thr) c.2528-1069G>A (n.2528-1069G>A) | dbSNP gnomAD v4 |
2 | g.189006985G>C | CA349845313 | COL3A1 | c.3151G>C (p.Ala1051Pro) c.3250G>C (p.Ala1084Pro) c.2528-1069G>C (n.2528-1069G>C) | |
2 | g.189006985G= | CA1315404368 | COL3A1 | c.3151G= (p.Ala1051=) c.3250G= (p.Ala1084=) c.2528-1069G= (n.2528-1069G=) | |
2 | g.189006985G>T | CA349845314 | COL3A1 | c.3151G>T (p.Ala1051Ser) c.3250G>T (p.Ala1084Ser) c.2528-1069G>T (n.2528-1069G>T) | ClinVar dbSNP |
2 | g.189006985_189006991dup | CA2759533403 | COL3A1 | c.3151_3156+1dup c.3250_3255+1dup c.2528-1069_2528-1063dup (n.2528-1069_2528-1063dup) | |
2 | g.189006986C>A | CA349845315 | COL3A1 | c.3152C>A (p.Ala1051Asp) c.3251C>A (p.Ala1084Asp) c.2528-1068C>A (n.2528-1068C>A) | |
2 | g.189006986C>G | CA349845316 | COL3A1 | c.3152C>G (p.Ala1051Gly) c.3251C>G (p.Ala1084Gly) c.2528-1068C>G (n.2528-1068C>G) | |
2 | g.189006986C>T | CA349845317 | COL3A1 | c.3152C>T (p.Ala1051Val) c.3251C>T (p.Ala1084Val) c.2528-1068C>T (n.2528-1068C>T) | gnomAD v4 |
2 | g.189006987T>A | CA430313171 | COL3A1 | c.3153T>A (p.Ala1051=) c.3252T>A (p.Ala1084=) c.2528-1067T>A (n.2528-1067T>A) | |
2 | g.189006987T>C | CA430313172 | COL3A1 | c.3153T>C (p.Ala1051=) c.3252T>C (p.Ala1084=) c.2528-1067T>C (n.2528-1067T>C) | ClinVar |
2 | g.189006987T>G | CA430313170 | COL3A1 | c.3153T>G (p.Ala1051=) c.3252T>G (p.Ala1084=) c.2528-1067T>G (n.2528-1067T>G) | |
2 | g.189006988C>A | CA349845318 | COL3A1 | c.3154C>A (p.Pro1052Thr) c.3253C>A (p.Pro1085Thr) c.2528-1066C>A (n.2528-1066C>A) | |
2 | g.189006988C>G | CA349845319 | COL3A1 | c.3154C>G (p.Pro1052Ala) c.3253C>G (p.Pro1085Ala) c.2528-1066C>G (n.2528-1066C>G) | |
2 | g.189006988C>T | CA349845320 | COL3A1 | c.3154C>T (p.Pro1052Ser) c.3253C>T (p.Pro1085Ser) c.2528-1066C>T (n.2528-1066C>T) | |
2 | g.189006989C>A | CA349845321 | COL3A1 | c.3155C>A (p.Pro1052His) c.3254C>A (p.Pro1085His) c.2528-1065C>A (n.2528-1065C>A) | |
2 | g.189006989C= | CA1315404369 | COL3A1 | c.3155C= (p.Pro1052=) c.3254C= (p.Pro1085=) c.2528-1065C= (n.2528-1065C=) | |
2 | g.189006989C>G | CA349845322 | COL3A1 | c.3155C>G (p.Pro1052Arg) c.3254C>G (p.Pro1085Arg) c.2528-1065C>G (n.2528-1065C>G) | |
2 | g.189006989C>T | CA62559992 | COL3A1 | c.3155C>T (p.Pro1052Leu) c.3254C>T (p.Pro1085Leu) c.2528-1065C>T (n.2528-1065C>T) | dbSNP |
2 | g.189006990T>A | CA430313177 | COL3A1 | c.3156T>A (p.Pro1052=) c.3255T>A (p.Pro1085=) c.2528-1064T>A (n.2528-1064T>A) | ClinVar dbSNP |
2 | g.189006990T>C | CA075979 | COL3A1 | c.3156T>C (p.Pro1052=) c.3255T>C (p.Pro1085=) c.2528-1064T>C (n.2528-1064T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189006990T>G | CA430313178 | COL3A1 | c.3156T>G (p.Pro1052=) c.3255T>G (p.Pro1085=) c.2528-1064T>G (n.2528-1064T>G) | gnomAD v4 |
2 | g.189006990T= | CA1315404370 | COL3A1 | c.3156T= (p.Pro1052=) c.3255T= (p.Pro1085=) c.2528-1064T= (n.2528-1064T=) | |
2 | g.189006991G>A | CA006230 | COL3A1 | c.3156+1G>A (n.3156+1G>A) c.3255+1G>A (n.3255+1G>A) c.2528-1063G>A (n.2528-1063G>A) | ClinVar dbSNP |
2 | g.189006991G>C | CA349845323 | COL3A1 | c.3156+1G>C (n.3156+1G>C) c.3255+1G>C (n.3255+1G>C) c.2528-1063G>C (n.2528-1063G>C) | ClinVar dbSNP |
2 | g.189006991G= | CA1315404371 | COL3A1 | c.3156+1G= (n.3156+1G=) c.3255+1G= (n.3255+1G=) c.2528-1063G= (n.2528-1063G=) | |
2 | g.189006991G>T | CA349845324 | COL3A1 | c.3156+1G>T (n.3156+1G>T) c.3255+1G>T (n.3255+1G>T) c.2528-1063G>T (n.2528-1063G>T) | |
2 | g.189006992T>A | CA349845326 | COL3A1 | c.3156+2T>A (n.3156+2T>A) c.3255+2T>A (n.3255+2T>A) c.2528-1062T>A (n.2528-1062T>A) | |
2 | g.189006992T>C | CA349845327 | COL3A1 | c.3156+2T>C (n.3156+2T>C) c.3255+2T>C (n.3255+2T>C) c.2528-1062T>C (n.2528-1062T>C) | |
2 | g.189006992T>G | CA349845329 | COL3A1 | c.3156+2T>G (n.3156+2T>G) c.3255+2T>G (n.3255+2T>G) c.2528-1062T>G (n.2528-1062T>G) | |
2 | g.189006994del | CA2573050761 | COL3A1 | c.3156+4del (n.3156+4del) c.3255+4del (n.3255+4del) c.2528-1060del (n.2528-1060del) | |
2 | g.189006995G>A | CA006237 | COL3A1 | c.3156+5G>A (n.3156+5G>A) c.3255+5G>A (n.3255+5G>A) c.2528-1059G>A (n.2528-1059G>A) | ClinVar dbSNP |
2 | g.189006995G= | CA1315404372 | COL3A1 | c.3156+5G= (n.3156+5G=) c.3255+5G= (n.3255+5G=) c.2528-1059G= (n.2528-1059G=) | |
2 | g.189007001_189007010dup | CA2697551449 | COL3A1 | c.3156+11_3156+20dup (n.3156+11_3156+20dup) c.3255+11_3255+20dup (n.3255+11_3255+20dup) c.2528-1053_2528-1044dup (n.2528-1053_2528-1044dup) | ClinVar |
2 | g.189006997T>G | CA075977 | COL3A1 | c.3156+7T>G (n.3156+7T>G) c.3255+7T>G (n.3255+7T>G) c.2528-1057T>G (n.2528-1057T>G) | dbSNP ExAC gnomAD v4 |
2 | g.189006997T= | CA1315404373 | COL3A1 | c.3156+7T= (n.3156+7T=) c.3255+7T= (n.3255+7T=) c.2528-1057T= (n.2528-1057T=) | |
2 | g.189006999T>A | CA2573134201 | COL3A1 | c.3156+9T>A (n.3156+9T>A) c.3255+9T>A (n.3255+9T>A) c.2528-1055T>A (n.2528-1055T>A) | ClinVar dbSNP |
2 | g.189007000G>A | CA1139657571 | COL3A1 | c.3156+10G>A (n.3156+10G>A) c.3255+10G>A (n.3255+10G>A) c.2528-1054G>A (n.2528-1054G>A) | ClinVar dbSNP |
2 | g.189007000G= | CA1315404374 | COL3A1 | c.3156+10G= (n.3156+10G=) c.3255+10G= (n.3255+10G=) c.2528-1054G= (n.2528-1054G=) | |
2 | g.189007001T>C | CA1315404376 | COL3A1 | c.3156+11T>C (n.3156+11T>C) c.3255+11T>C (n.3255+11T>C) c.2528-1053T>C (n.2528-1053T>C) | dbSNP gnomAD v4 |
2 | g.189007001T= | CA1315404375 | COL3A1 | c.3156+11T= (n.3156+11T=) c.3255+11T= (n.3255+11T=) c.2528-1053T= (n.2528-1053T=) | |
2 | g.189007002C>T | CA2753571997 | COL3A1 | c.3156+12C>T (n.3156+12C>T) c.3255+12C>T (n.3255+12C>T) c.2528-1052C>T (n.2528-1052C>T) | |
2 | g.189007003A= | CA1315404377 | COL3A1 | c.3156+13A= (n.3156+13A=) c.3255+13A= (n.3255+13A=) c.2528-1051A= (n.2528-1051A=) | |
2 | g.189007004T>C | CA2662310674 | COL3A1 | c.3156+14T>C (n.3156+14T>C) c.3255+14T>C (n.3255+14T>C) c.2528-1050T>C (n.2528-1050T>C) | gnomAD v4 |
2 | g.189007004T>G | CA075956 | COL3A1 | c.3156+14T>G (n.3156+14T>G) c.3255+14T>G (n.3255+14T>G) c.2528-1050T>G (n.2528-1050T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189007004T= | CA1315404378 | COL3A1 | c.3156+14T= (n.3156+14T=) c.3255+14T= (n.3255+14T=) c.2528-1050T= (n.2528-1050T=) | |
2 | g.189007009dup | CA538448990 | COL3A1 | c.3156+19dup (n.3156+19dup) c.3255+19dup (n.3255+19dup) c.2528-1045dup (n.2528-1045dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189007009del | CA2662310673 | COL3A1 | c.3156+19del (n.3156+19del) c.3255+19del (n.3255+19del) c.2528-1045del (n.2528-1045del) | gnomAD v4 |
2 | g.189007006T>A | CA2662310675 | COL3A1 | c.3156+16T>A (n.3156+16T>A) c.3255+16T>A (n.3255+16T>A) c.2528-1048T>A (n.2528-1048T>A) | gnomAD v4 |
2 | g.189007007T>C | CA538448991 | COL3A1 | c.3156+17T>C (n.3156+17T>C) c.3255+17T>C (n.3255+17T>C) c.2528-1047T>C (n.2528-1047T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189007007T>G | CA538448992 | COL3A1 | c.3156+17T>G (n.3156+17T>G) c.3255+17T>G (n.3255+17T>G) c.2528-1047T>G (n.2528-1047T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189007007T= | CA1315404379 | COL3A1 | c.3156+17T= (n.3156+17T=) c.3255+17T= (n.3255+17T=) c.2528-1047T= (n.2528-1047T=) | |
2 | g.189007008T>G | CA075958 | COL3A1 | c.3156+18T>G (n.3156+18T>G) c.3255+18T>G (n.3255+18T>G) c.2528-1046T>G (n.2528-1046T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189007008T= | CA1315404380 | COL3A1 | c.3156+18T= (n.3156+18T=) c.3255+18T= (n.3255+18T=) c.2528-1046T= (n.2528-1046T=) | |
2 | g.189007009T>C | CA2662310676 | COL3A1 | c.3156+19T>C (n.3156+19T>C) c.3255+19T>C (n.3255+19T>C) c.2528-1045T>C (n.2528-1045T>C) | gnomAD v4 |
2 | g.189007010G>A | CA2662310677 | COL3A1 | c.3156+20G>A (n.3156+20G>A) c.3255+20G>A (n.3255+20G>A) c.2528-1044G>A (n.2528-1044G>A) | gnomAD v4 |
2 | g.189007010G= | CA1315404381 | COL3A1 | c.3156+20G= (n.3156+20G=) c.3255+20G= (n.3255+20G=) c.2528-1044G= (n.2528-1044G=) | |
2 | g.189007010G>T | CA075959 | COL3A1 | c.3156+20G>T (n.3156+20G>T) c.3255+20G>T (n.3255+20G>T) c.2528-1044G>T (n.2528-1044G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189007011G>C | CA2662310678 | COL3A1 | c.3156+21G>C (n.3156+21G>C) c.3255+21G>C (n.3255+21G>C) c.2528-1043G>C (n.2528-1043G>C) | gnomAD v4 |
2 | g.189007015del | CA2662310679 | COL3A1 | c.3156+25del (n.3156+25del) c.3255+25del (n.3255+25del) c.2528-1039del (n.2528-1039del) | gnomAD v4 |
2 | g.189007014T>A | CA2662310680 | COL3A1 | c.3156+24T>A (n.3156+24T>A) c.3255+24T>A (n.3255+24T>A) c.2528-1040T>A (n.2528-1040T>A) | gnomAD v4 |
2 | g.189007014T>C | CA62560022 | COL3A1 | c.3156+24T>C (n.3156+24T>C) c.3255+24T>C (n.3255+24T>C) c.2528-1040T>C (n.2528-1040T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189007014T>G | CA075961 | COL3A1 | c.3156+24T>G (n.3156+24T>G) c.3255+24T>G (n.3255+24T>G) c.2528-1040T>G (n.2528-1040T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189007014T= | CA1315404382 | COL3A1 | c.3156+24T= (n.3156+24T=) c.3255+24T= (n.3255+24T=) c.2528-1040T= (n.2528-1040T=) | |
2 | g.189007015T>A | CA075963 | COL3A1 | c.3156+25T>A (n.3156+25T>A) c.3255+25T>A (n.3255+25T>A) c.2528-1039T>A (n.2528-1039T>A) | dbSNP ExAC gnomAD v4 |
2 | g.189007015T>C | CA538448993 | COL3A1 | c.3156+25T>C (n.3156+25T>C) c.3255+25T>C (n.3255+25T>C) c.2528-1039T>C (n.2528-1039T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189007015T= | CA1315404383 | COL3A1 | c.3156+25T= (n.3156+25T=) c.3255+25T= (n.3255+25T=) c.2528-1039T= (n.2528-1039T=) | |
2 | g.189007016A= | CA1315404384 | COL3A1 | c.3156+26A= (n.3156+26A=) c.3255+26A= (n.3255+26A=) c.2528-1038A= (n.2528-1038A=) | |
2 | g.189007016A>G | CA2753571998 | COL3A1 | c.3156+26A>G (n.3156+26A>G) c.3255+26A>G (n.3255+26A>G) c.2528-1038A>G (n.2528-1038A>G) | |
2 | g.189007016A>T | CA1315404385 | COL3A1 | c.3156+26A>T (n.3156+26A>T) c.3255+26A>T (n.3255+26A>T) c.2528-1038A>T (n.2528-1038A>T) | dbSNP |
2 | g.189007018T>A | CA075965 | COL3A1 | c.3156+28T>A (n.3156+28T>A) c.3255+28T>A (n.3255+28T>A) c.2528-1036T>A (n.2528-1036T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189007018T>G | CA62560037 | COL3A1 | c.3156+28T>G (n.3156+28T>G) c.3255+28T>G (n.3255+28T>G) c.2528-1036T>G (n.2528-1036T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189007018T= | CA1315404386 | COL3A1 | c.3156+28T= (n.3156+28T=) c.3255+28T= (n.3255+28T=) c.2528-1036T= (n.2528-1036T=) | |
2 | g.189007020T>G | CA075967 | COL3A1 | c.3156+30T>G (n.3156+30T>G) c.3255+30T>G (n.3255+30T>G) c.2528-1034T>G (n.2528-1034T>G) | dbSNP ExAC |
2 | g.189007020T= | CA1315404387 | COL3A1 | c.3156+30T= (n.3156+30T=) c.3255+30T= (n.3255+30T=) c.2528-1034T= (n.2528-1034T=) | |
2 | g.189007021del | CA2753571999 | COL3A1 | c.3156+31del (n.3156+31del) c.3255+31del (n.3255+31del) c.2528-1033del (n.2528-1033del) | |
2 | g.189007021G= | CA1315404388 | COL3A1 | c.3156+31G= (n.3156+31G=) c.3255+31G= (n.3255+31G=) c.2528-1033G= (n.2528-1033G=) | |
2 | g.189007021G>T | CA1315404389 | COL3A1 | c.3156+31G>T (n.3156+31G>T) c.3255+31G>T (n.3255+31G>T) c.2528-1033G>T (n.2528-1033G>T) | dbSNP |
2 | g.189007024T>A | CA2662310681 | COL3A1 | c.3156+34T>A (n.3156+34T>A) c.3255+34T>A (n.3255+34T>A) c.2528-1030T>A (n.2528-1030T>A) | gnomAD v4 |
2 | g.189007025T>C | CA2662310682 | COL3A1 | c.3156+35T>C (n.3156+35T>C) c.3255+35T>C (n.3255+35T>C) c.2528-1029T>C (n.2528-1029T>C) | gnomAD v4 |
2 | g.189007025T>G | CA075968 | COL3A1 | c.3156+35T>G (n.3156+35T>G) c.3255+35T>G (n.3255+35T>G) c.2528-1029T>G (n.2528-1029T>G) | dbSNP ExAC |
2 | g.189007025T= | CA1315404390 | COL3A1 | c.3156+35T= (n.3156+35T=) c.3255+35T= (n.3255+35T=) c.2528-1029T= (n.2528-1029T=) | |
2 | g.189007026G>T | CA2662310683 | COL3A1 | c.3156+36G>T (n.3156+36G>T) c.3255+36G>T (n.3255+36G>T) c.2528-1028G>T (n.2528-1028G>T) | gnomAD v4 |
2 | g.189007028T>C | CA2662310684 | COL3A1 | c.3156+38T>C (n.3156+38T>C) c.3255+38T>C (n.3255+38T>C) c.2528-1026T>C (n.2528-1026T>C) | gnomAD v4 |
2 | g.189007029C>A | CA075970 | COL3A1 | c.3156+39C>A (n.3156+39C>A) c.3255+39C>A (n.3255+39C>A) c.2528-1025C>A (n.2528-1025C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189007029C= | CA1315404391 | COL3A1 | c.3156+39C= (n.3156+39C=) c.3255+39C= (n.3255+39C=) c.2528-1025C= (n.2528-1025C=) | |
2 | g.189007029C>G | CA2577185908 | COL3A1 | c.3156+39C>G (n.3156+39C>G) c.3255+39C>G (n.3255+39C>G) c.2528-1025C>G (n.2528-1025C>G) | |
2 | g.189007029C>T | CA62560047 | COL3A1 | c.3156+39C>T (n.3156+39C>T) c.3255+39C>T (n.3255+39C>T) c.2528-1025C>T (n.2528-1025C>T) | dbSNP |
2 | g.189007029dup | CA2577185906 | COL3A1 | c.3156+39dup (n.3156+39dup) c.3255+39dup (n.3255+39dup) c.2528-1025dup (n.2528-1025dup) | |
2 | g.189007029_189007030delinsCT | CA1315404392 | COL3A1 | c.3156+39_3156+40delinsCT (n.3156+39_3156+40delinsCT) c.3255+39_3255+40delinsCT (n.3255+39_3255+40delinsCT) c.2528-1025_2528-1024delinsCT (n.2528-1025_2528-1024delinsCT) | |
2 | g.189007030T>A | CA762207017 | COL3A1 | c.3156+40T>A (n.3156+40T>A) c.3255+40T>A (n.3255+40T>A) c.2528-1024T>A (n.2528-1024T>A) | dbSNP |
2 | g.189007030T>C | CA2518798580 | COL3A1 | c.3156+40T>C (n.3156+40T>C) c.3255+40T>C (n.3255+40T>C) c.2528-1024T>C (n.2528-1024T>C) | |
2 | g.189007030T= | CA1315404394 | COL3A1 | c.3156+40T= (n.3156+40T=) c.3255+40T= (n.3255+40T=) c.2528-1024T= (n.2528-1024T=) | |
2 | g.189007036dup | CA349845343 | COL3A1 | c.3156+46dup (n.3156+46dup) c.3255+46dup (n.3255+46dup) c.2528-1018dup (n.2528-1018dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189007036del | CA1315404393 | COL3A1 | c.3156+46del (n.3156+46del) c.3255+46del (n.3255+46del) c.2528-1018del (n.2528-1018del) | dbSNP gnomAD v4 |
2 | g.189007031T>A | CA2662310685 | COL3A1 | c.3156+41T>A (n.3156+41T>A) c.3255+41T>A (n.3255+41T>A) c.2528-1023T>A (n.2528-1023T>A) | gnomAD v4 |
2 | g.189007033T>C | CA2662310686 | COL3A1 | c.3156+43T>C (n.3156+43T>C) c.3255+43T>C (n.3255+43T>C) c.2528-1021T>C (n.2528-1021T>C) | gnomAD v4 |
2 | g.189007034T>C | CA2753572000 | COL3A1 | c.3156+44T>C (n.3156+44T>C) c.3255+44T>C (n.3255+44T>C) c.2528-1020T>C (n.2528-1020T>C) | |
2 | g.189007035T>C | CA075971 | COL3A1 | c.3156+45T>C (n.3156+45T>C) c.3255+45T>C (n.3255+45T>C) c.2528-1019T>C (n.2528-1019T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189007035T= | CA1315404395 | COL3A1 | c.3156+45T= (n.3156+45T=) c.3255+45T= (n.3255+45T=) c.2528-1019T= (n.2528-1019T=) | |
2 | g.189007036T>A | CA2577185910 | COL3A1 | c.3156+46T>A (n.3156+46T>A) c.3255+46T>A (n.3255+46T>A) c.2528-1018T>A (n.2528-1018T>A) | gnomAD v4 |
2 | g.189007036T>C | CA2662310687 | COL3A1 | c.3156+46T>C (n.3156+46T>C) c.3255+46T>C (n.3255+46T>C) c.2528-1018T>C (n.2528-1018T>C) | gnomAD v4 |
2 | g.189007037A= | CA1315404396 | COL3A1 | c.3156+47A= (n.3156+47A=) c.3255+47A= (n.3255+47A=) c.2528-1017A= (n.2528-1017A=) | |
2 | g.189007037A>G | CA075973 | COL3A1 | c.3156+47A>G (n.3156+47A>G) c.3255+47A>G (n.3255+47A>G) c.2528-1017A>G (n.2528-1017A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189007038A= | CA1315404397 | COL3A1 | c.3156+48A= (n.3156+48A=) c.3255+48A= (n.3255+48A=) c.2528-1016A= (n.2528-1016A=) | |
2 | g.189007038A>G | CA538448994 | COL3A1 | c.3156+48A>G (n.3156+48A>G) c.3255+48A>G (n.3255+48A>G) c.2528-1016A>G (n.2528-1016A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189007039C= | CA1315404398 | COL3A1 | c.3156+49C= (n.3156+49C=) c.3255+49C= (n.3255+49C=) c.2528-1015C= (n.2528-1015C=) | |
2 | g.189007039C>T | CA075975 | COL3A1 | c.3156+49C>T (n.3156+49C>T) c.3255+49C>T (n.3255+49C>T) c.2528-1015C>T (n.2528-1015C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |