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.189001505_189006012del | CA913189729 | COL3A1 | c.2239-31_2941-194del c.2338-31_3040-194del c.2338-31_2528-2042del | ClinVar |
2 | g.189004109G>A | CA349844182 | COL3A1 | c.2690G>A (p.Gly897Glu) c.2789G>A (p.Gly930Glu) c.2527+1073G>A (n.2527+1073G>A) | COSMIC |
2 | g.189004109G>C | CA349844183 | COL3A1 | c.2690G>C (p.Gly897Ala) c.2789G>C (p.Gly930Ala) c.2527+1073G>C (n.2527+1073G>C) | |
2 | g.189004109G>T | CA349844185 | COL3A1 | c.2690G>T (p.Gly897Val) c.2789G>T (p.Gly930Val) c.2527+1073G>T (n.2527+1073G>T) | |
2 | g.189004110A>C | CA430312080 | COL3A1 | c.2691A>C (p.Gly897=) c.2790A>C (p.Gly930=) c.2527+1074A>C (n.2527+1074A>C) | |
2 | g.189004110A>G | CA430312081 | COL3A1 | c.2691A>G (p.Gly897=) c.2790A>G (p.Gly930=) c.2527+1074A>G (n.2527+1074A>G) | gnomAD v4 |
2 | g.189004110A>T | CA430312082 | COL3A1 | c.2691A>T (p.Gly897=) c.2790A>T (p.Gly930=) c.2527+1074A>T (n.2527+1074A>T) | |
2 | g.189004111G>A | CA349844188 | COL3A1 | c.2692G>A (p.Glu898Lys) c.2791G>A (p.Glu931Lys) c.2527+1075G>A (n.2527+1075G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.189004111G>C | CA349844191 | COL3A1 | c.2692G>C (p.Glu898Gln) c.2791G>C (p.Glu931Gln) c.2527+1075G>C (n.2527+1075G>C) | ClinVar gnomAD v4 |
2 | g.189004111G= | CA1315403063 | COL3A1 | c.2692G= (p.Glu898=) c.2791G= (p.Glu931=) c.2527+1075G= (n.2527+1075G=) | |
2 | g.189004111G>T | CA349844192 | COL3A1 | c.2692G>T (p.Glu898Ter) c.2791G>T (p.Glu931Ter) c.2527+1075G>T (n.2527+1075G>T) | |
2 | g.189004112A>C | CA349844195 | COL3A1 | c.2693A>C (p.Glu898Ala) c.2792A>C (p.Glu931Ala) c.2527+1076A>C (n.2527+1076A>C) | |
2 | g.189004112A>G | CA349844197 | COL3A1 | c.2693A>G (p.Glu898Gly) c.2792A>G (p.Glu931Gly) c.2527+1076A>G (n.2527+1076A>G) | |
2 | g.189004112A>T | CA349844199 | COL3A1 | c.2693A>T (p.Glu898Val) c.2792A>T (p.Glu931Val) c.2527+1076A>T (n.2527+1076A>T) | |
2 | g.189004113G>A | CA430312085 | COL3A1 | c.2694G>A (p.Glu898=) c.2793G>A (p.Glu931=) c.2527+1077G>A (n.2527+1077G>A) | |
2 | g.189004113G>C | CA349844202 | COL3A1 | c.2694G>C (p.Glu898Asp) c.2793G>C (p.Glu931Asp) c.2527+1077G>C (n.2527+1077G>C) | |
2 | g.189004113G= | CA1315403064 | COL3A1 | c.2694G= (p.Glu898=) c.2793G= (p.Glu931=) c.2527+1077G= (n.2527+1077G=) | |
2 | g.189004113G>T | CA62557445 | COL3A1 | c.2694G>T (p.Glu898Asp) c.2793G>T (p.Glu931Asp) c.2527+1077G>T (n.2527+1077G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004114A>C | CA349844208 | COL3A1 | c.2695A>C (p.Lys899Gln) c.2794A>C (p.Lys932Gln) c.2527+1078A>C (n.2527+1078A>C) | |
2 | g.189004114A>G | CA349844210 | COL3A1 | c.2695A>G (p.Lys899Glu) c.2794A>G (p.Lys932Glu) c.2527+1078A>G (n.2527+1078A>G) | |
2 | g.189004114A>T | CA349844206 | COL3A1 | c.2695A>T (p.Lys899Ter) c.2794A>T (p.Lys932Ter) c.2527+1078A>T (n.2527+1078A>T) | |
2 | g.189004115A>C | CA349844216 | COL3A1 | c.2696A>C (p.Lys899Thr) c.2795A>C (p.Lys932Thr) c.2527+1079A>C (n.2527+1079A>C) | |
2 | g.189004115A>G | CA349844213 | COL3A1 | c.2696A>G (p.Lys899Arg) c.2795A>G (p.Lys932Arg) c.2527+1079A>G (n.2527+1079A>G) | |
2 | g.189004115A>T | CA349844215 | COL3A1 | c.2696A>T (p.Lys899Met) c.2795A>T (p.Lys932Met) c.2527+1079A>T (n.2527+1079A>T) | |
2 | g.189004116G>A | CA430312089 | COL3A1 | c.2697G>A (p.Lys899=) c.2796G>A (p.Lys932=) c.2527+1080G>A (n.2527+1080G>A) | |
2 | g.189004116G>C | CA349844220 | COL3A1 | c.2697G>C (p.Lys899Asn) c.2796G>C (p.Lys932Asn) c.2527+1080G>C (n.2527+1080G>C) | dbSNP |
2 | g.189004116G= | CA1315403065 | COL3A1 | c.2697G= (p.Lys899=) c.2796G= (p.Lys932=) c.2527+1080G= (n.2527+1080G=) | |
2 | g.189004116G>T | CA349844221 | COL3A1 | c.2697G>T (p.Lys899Asn) c.2796G>T (p.Lys932Asn) c.2527+1080G>T (n.2527+1080G>T) | |
2 | g.189004118dup | CA1139771222 | COL3A1 | c.2699dup (p.Ser901IlefsTer?) c.2798dup (p.Ser934IlefsTer?) c.2527+1082dup (n.2527+1082dup) | |
2 | g.189004117G>A | CA349844225 | COL3A1 | c.2698G>A (p.Gly900Arg) c.2797G>A (p.Gly933Arg) c.2527+1081G>A (n.2527+1081G>A) | ClinVar dbSNP COSMIC |
2 | g.189004117G>C | CA349844226 | COL3A1 | c.2698G>C (p.Gly900Arg) c.2797G>C (p.Gly933Arg) c.2527+1081G>C (n.2527+1081G>C) | |
2 | g.189004117G= | CA1315403066 | COL3A1 | c.2698G= (p.Gly900=) c.2797G= (p.Gly933=) c.2527+1081G= (n.2527+1081G=) | |
2 | g.189004117G>T | CA349844227 | COL3A1 | c.2698G>T (p.Gly900Ter) c.2797G>T (p.Gly933Ter) c.2527+1081G>T (n.2527+1081G>T) | ClinVar |
2 | g.189004118G>A | CA349844228 | COL3A1 | c.2699G>A (p.Gly900Glu) c.2798G>A (p.Gly933Glu) c.2527+1082G>A (n.2527+1082G>A) | COSMIC |
2 | g.189004118G>C | CA349844230 | COL3A1 | c.2699G>C (p.Gly900Ala) c.2798G>C (p.Gly933Ala) c.2527+1082G>C (n.2527+1082G>C) | |
2 | g.189004118G>T | CA349844231 | COL3A1 | c.2699G>T (p.Gly900Val) c.2798G>T (p.Gly933Val) c.2527+1082G>T (n.2527+1082G>T) | COSMIC |
2 | g.189004119A= | CA1315403067 | COL3A1 | c.2700A= (p.Gly900=) c.2799A= (p.Gly933=) c.2527+1083A= (n.2527+1083A=) | |
2 | g.189004119A>C | CA430312093 | COL3A1 | c.2700A>C (p.Gly900=) c.2799A>C (p.Gly933=) c.2527+1083A>C (n.2527+1083A>C) | |
2 | g.189004119A>G | CA430312094 | COL3A1 | c.2700A>G (p.Gly900=) c.2799A>G (p.Gly933=) c.2527+1083A>G (n.2527+1083A>G) | |
2 | g.189004119A>T | CA430312095 | COL3A1 | c.2700A>T (p.Gly900=) c.2799A>T (p.Gly933=) c.2527+1083A>T (n.2527+1083A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004120T>A | CA349844234 | COL3A1 | c.2701T>A (p.Ser901Thr) c.2800T>A (p.Ser934Thr) c.2527+1084T>A (n.2527+1084T>A) | |
2 | g.189004120T>C | CA349844236 | COL3A1 | c.2701T>C (p.Ser901Pro) c.2800T>C (p.Ser934Pro) c.2527+1084T>C (n.2527+1084T>C) | |
2 | g.189004120T>G | CA349844238 | COL3A1 | c.2701T>G (p.Ser901Ala) c.2800T>G (p.Ser934Ala) c.2527+1084T>G (n.2527+1084T>G) | |
2 | g.189004121del | CA2580065357 | COL3A1 | c.2702del (p.Ser901CysfsTer?) c.2801del (p.Ser934CysfsTer?) c.2527+1085del (n.2527+1085del) | ClinVar |
2 | g.189004121C>A | CA349844241 | COL3A1 | c.2702C>A (p.Ser901Ter) c.2801C>A (p.Ser934Ter) c.2527+1085C>A (n.2527+1085C>A) | |
2 | g.189004121C= | CA1315403068 | COL3A1 | c.2702C= (p.Ser901=) c.2801C= (p.Ser934=) c.2527+1085C= (n.2527+1085C=) | |
2 | g.189004121C>G | CA349844243 | COL3A1 | c.2702C>G (p.Ser901Trp) c.2801C>G (p.Ser934Trp) c.2527+1085C>G (n.2527+1085C>G) | |
2 | g.189004121C>T | CA10587533 | COL3A1 | c.2702C>T (p.Ser901Leu) c.2801C>T (p.Ser934Leu) c.2527+1085C>T (n.2527+1085C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.189004122G>A | CA075594 | COL3A1 | c.2703G>A (p.Ser901=) c.2802G>A (p.Ser934=) c.2527+1086G>A (n.2527+1086G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189004122G>C | CA430312096 | COL3A1 | c.2703G>C (p.Ser901=) c.2802G>C (p.Ser934=) c.2527+1086G>C (n.2527+1086G>C) | |
2 | g.189004122G= | CA1315403069 | COL3A1 | c.2703G= (p.Ser901=) c.2802G= (p.Ser934=) c.2527+1086G= (n.2527+1086G=) | |
2 | g.189004122G>T | CA430312097 | COL3A1 | c.2703G>T (p.Ser901=) c.2802G>T (p.Ser934=) c.2527+1086G>T (n.2527+1086G>T) | ClinVar gnomAD v4 |
2 | g.189004123C>A | CA075597 | COL3A1 | c.2704C>A (p.Pro902Thr) c.2803C>A (p.Pro935Thr) c.2527+1087C>A (n.2527+1087C>A) | dbSNP ExAC gnomAD v2 |
2 | g.189004123C= | CA1315403070 | COL3A1 | c.2704C= (p.Pro902=) c.2803C= (p.Pro935=) c.2527+1087C= (n.2527+1087C=) | |
2 | g.189004123C>G | CA349844246 | COL3A1 | c.2704C>G (p.Pro902Ala) c.2803C>G (p.Pro935Ala) c.2527+1087C>G (n.2527+1087C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004123C>T | CA349844247 | COL3A1 | c.2704C>T (p.Pro902Ser) c.2803C>T (p.Pro935Ser) c.2527+1087C>T (n.2527+1087C>T) | |
2 | g.189004124C>A | CA349844248 | COL3A1 | c.2705C>A (p.Pro902His) c.2804C>A (p.Pro935His) c.2527+1088C>A (n.2527+1088C>A) | |
2 | g.189004124C= | CA1315403071 | COL3A1 | c.2705C= (p.Pro902=) c.2804C= (p.Pro935=) c.2527+1088C= (n.2527+1088C=) | |
2 | g.189004124C>G | CA349844251 | COL3A1 | c.2705C>G (p.Pro902Arg) c.2804C>G (p.Pro935Arg) c.2527+1088C>G (n.2527+1088C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004124C>T | CA349844252 | COL3A1 | c.2705C>T (p.Pro902Leu) c.2804C>T (p.Pro935Leu) c.2527+1088C>T (n.2527+1088C>T) | |
2 | g.189004125T>A | CA430312100 | COL3A1 | c.2706T>A (p.Pro902=) c.2805T>A (p.Pro935=) c.2527+1089T>A (n.2527+1089T>A) | |
2 | g.189004125T>C | CA005687 | COL3A1 | c.2706T>C (p.Pro902=) c.2805T>C (p.Pro935=) c.2527+1089T>C (n.2527+1089T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004125T>G | CA430312101 | COL3A1 | c.2706T>G (p.Pro902=) c.2805T>G (p.Pro935=) c.2527+1089T>G (n.2527+1089T>G) | |
2 | g.189004125T= | CA1315403072 | COL3A1 | c.2706T= (p.Pro902=) c.2805T= (p.Pro935=) c.2527+1089T= (n.2527+1089T=) | |
2 | g.189004126G>A | CA349844256 | COL3A1 | c.2707G>A (p.Gly903Ser) c.2806G>A (p.Gly936Ser) c.2527+1090G>A (n.2527+1090G>A) | |
2 | g.189004126G>C | CA005694 | COL3A1 | c.2707G>C (p.Gly903Arg) c.2806G>C (p.Gly936Arg) c.2527+1090G>C (n.2527+1090G>C) | ClinVar dbSNP |
2 | g.189004126G= | CA1315403073 | COL3A1 | c.2707G= (p.Gly903=) c.2806G= (p.Gly936=) c.2527+1090G= (n.2527+1090G=) | |
2 | g.189004126G>T | CA349844259 | COL3A1 | c.2707G>T (p.Gly903Cys) c.2806G>T (p.Gly936Cys) c.2527+1090G>T (n.2527+1090G>T) | |
2 | g.189004127G>A | CA349844264 | COL3A1 | c.2708G>A (p.Gly903Asp) c.2807G>A (p.Gly936Asp) c.2527+1091G>A (n.2527+1091G>A) | |
2 | g.189004127G>C | CA349844267 | COL3A1 | c.2708G>C (p.Gly903Ala) c.2807G>C (p.Gly936Ala) c.2527+1091G>C (n.2527+1091G>C) | |
2 | g.189004127G>T | CA349844262 | COL3A1 | c.2708G>T (p.Gly903Val) c.2807G>T (p.Gly936Val) c.2527+1091G>T (n.2527+1091G>T) | |
2 | g.189004128T>A | CA430312107 | COL3A1 | c.2709T>A (p.Gly903=) c.2808T>A (p.Gly936=) c.2527+1092T>A (n.2527+1092T>A) | |
2 | g.189004128T>C | CA430312108 | COL3A1 | c.2709T>C (p.Gly903=) c.2808T>C (p.Gly936=) c.2527+1092T>C (n.2527+1092T>C) | COSMIC |
2 | g.189004128T>G | CA430312109 | COL3A1 | c.2709T>G (p.Gly903=) c.2808T>G (p.Gly936=) c.2527+1092T>G (n.2527+1092T>G) | |
2 | g.189004129G>A | CA349844269 | COL3A1 | c.2710G>A (p.Ala904Thr) c.2809G>A (p.Ala937Thr) c.2527+1093G>A (n.2527+1093G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.189004129G>C | CA349844271 | COL3A1 | c.2710G>C (p.Ala904Pro) c.2809G>C (p.Ala937Pro) c.2527+1093G>C (n.2527+1093G>C) | |
2 | g.189004129G= | CA1315403074 | COL3A1 | c.2710G= (p.Ala904=) c.2809G= (p.Ala937=) c.2527+1093G= (n.2527+1093G=) | |
2 | g.189004129G>T | CA349844272 | COL3A1 | c.2710G>T (p.Ala904Ser) c.2809G>T (p.Ala937Ser) c.2527+1093G>T (n.2527+1093G>T) | dbSNP COSMIC |
2 | g.189004130C>A | CA349844275 | COL3A1 | c.2711C>A (p.Ala904Asp) c.2810C>A (p.Ala937Asp) c.2527+1094C>A (n.2527+1094C>A) | COSMIC |
2 | g.189004130C= | CA1315403075 | COL3A1 | c.2711C= (p.Ala904=) c.2810C= (p.Ala937=) c.2527+1094C= (n.2527+1094C=) | |
2 | g.189004130C>G | CA349844277 | COL3A1 | c.2711C>G (p.Ala904Gly) c.2810C>G (p.Ala937Gly) c.2527+1094C>G (n.2527+1094C>G) | dbSNP gnomAD v2 |
2 | g.189004130C>T | CA349844278 | COL3A1 | c.2711C>T (p.Ala904Val) c.2810C>T (p.Ala937Val) c.2527+1094C>T (n.2527+1094C>T) | |
2 | g.189004131C>A | CA430312116 | COL3A1 | c.2712C>A (p.Ala904=) c.2811C>A (p.Ala937=) c.2527+1095C>A (n.2527+1095C>A) | |
2 | g.189004131C>G | CA430312117 | COL3A1 | c.2712C>G (p.Ala904=) c.2811C>G (p.Ala937=) c.2527+1095C>G (n.2527+1095C>G) | |
2 | g.189004131C>T | CA430312118 | COL3A1 | c.2712C>T (p.Ala904=) c.2811C>T (p.Ala937=) c.2527+1095C>T (n.2527+1095C>T) | |
2 | g.189004132C>A | CA349844285 | COL3A1 | c.2713C>A (p.Gln905Lys) c.2812C>A (p.Gln938Lys) c.2527+1096C>A (n.2527+1096C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004132C= | CA1315403076 | COL3A1 | c.2713C= (p.Gln905=) c.2812C= (p.Gln938=) c.2527+1096C= (n.2527+1096C=) | |
2 | g.189004132C>G | CA349844281 | COL3A1 | c.2713C>G (p.Gln905Glu) c.2812C>G (p.Gln938Glu) c.2527+1096C>G (n.2527+1096C>G) | |
2 | g.189004132C>T | CA349844283 | COL3A1 | c.2713C>T (p.Gln905Ter) c.2812C>T (p.Gln938Ter) c.2527+1096C>T (n.2527+1096C>T) | |
2 | g.189004133A>C | CA349844288 | COL3A1 | c.2714A>C (p.Gln905Pro) c.2813A>C (p.Gln938Pro) c.2527+1097A>C (n.2527+1097A>C) | |
2 | g.189004133A>G | CA349844290 | COL3A1 | c.2714A>G (p.Gln905Arg) c.2813A>G (p.Gln938Arg) c.2527+1097A>G (n.2527+1097A>G) | |
2 | g.189004133A>T | CA349844292 | COL3A1 | c.2714A>T (p.Gln905Leu) c.2813A>T (p.Gln938Leu) c.2527+1097A>T (n.2527+1097A>T) | |
2 | g.189004134G>A | CA430312121 | COL3A1 | c.2715G>A (p.Gln905=) c.2814G>A (p.Gln938=) c.2527+1098G>A (n.2527+1098G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004134G>C | CA349844295 | COL3A1 | c.2715G>C (p.Gln905His) c.2814G>C (p.Gln938His) c.2527+1098G>C (n.2527+1098G>C) | |
2 | g.189004134G= | CA1315403077 | COL3A1 | c.2715G= (p.Gln905=) c.2814G= (p.Gln938=) c.2527+1098G= (n.2527+1098G=) | |
2 | g.189004134G>T | CA349844296 | COL3A1 | c.2715G>T (p.Gln905His) c.2814G>T (p.Gln938His) c.2527+1098G>T (n.2527+1098G>T) | |
2 | g.189004135G>A | CA005700 | COL3A1 | c.2716G>A (p.Gly906Ser) c.2815G>A (p.Gly939Ser) c.2527+1099G>A (n.2527+1099G>A) | ClinVar dbSNP COSMIC |
2 | g.189004135G>C | CA349844302 | COL3A1 | c.2716G>C (p.Gly906Arg) c.2815G>C (p.Gly939Arg) c.2527+1099G>C (n.2527+1099G>C) | ClinVar dbSNP |
2 | g.189004135G= | CA1315403078 | COL3A1 | c.2716G= (p.Gly906=) c.2815G= (p.Gly939=) c.2527+1099G= (n.2527+1099G=) | |
2 | g.189004135G>T | CA005707 | COL3A1 | c.2716G>T (p.Gly906Cys) c.2815G>T (p.Gly939Cys) c.2527+1099G>T (n.2527+1099G>T) | ClinVar dbSNP |
2 | g.189004136G>A | CA62557487 | COL3A1 | c.2717G>A (p.Gly906Asp) c.2816G>A (p.Gly939Asp) c.2527+1100G>A (n.2527+1100G>A) | dbSNP COSMIC |
2 | g.189004136G>C | CA349844306 | COL3A1 | c.2717G>C (p.Gly906Ala) c.2816G>C (p.Gly939Ala) c.2527+1100G>C (n.2527+1100G>C) | |
2 | g.189004136G= | CA1315403079 | COL3A1 | c.2717G= (p.Gly906=) c.2816G= (p.Gly939=) c.2527+1100G= (n.2527+1100G=) | |
2 | g.189004136G>T | CA349844308 | COL3A1 | c.2717G>T (p.Gly906Val) c.2816G>T (p.Gly939Val) c.2527+1100G>T (n.2527+1100G>T) | |
2 | g.189004137C>A | CA430312128 | COL3A1 | c.2718C>A (p.Gly906=) c.2817C>A (p.Gly939=) c.2527+1101C>A (n.2527+1101C>A) | dbSNP gnomAD v2 |
2 | g.189004137C= | CA1315403080 | COL3A1 | c.2718C= (p.Gly906=) c.2817C= (p.Gly939=) c.2527+1101C= (n.2527+1101C=) | |
2 | g.189004137C>G | CA430312126 | COL3A1 | c.2718C>G (p.Gly906=) c.2817C>G (p.Gly939=) c.2527+1101C>G (n.2527+1101C>G) | |
2 | g.189004137C>T | CA430312127 | COL3A1 | c.2718C>T (p.Gly906=) c.2817C>T (p.Gly939=) c.2527+1101C>T (n.2527+1101C>T) | gnomAD v4 |
2 | g.189004138C>A | CA349844311 | COL3A1 | c.2719C>A (p.Pro907Thr) c.2818C>A (p.Pro940Thr) c.2527+1102C>A (n.2527+1102C>A) | gnomAD v4 |
2 | g.189004138C>G | CA349844313 | COL3A1 | c.2719C>G (p.Pro907Ala) c.2818C>G (p.Pro940Ala) c.2527+1102C>G (n.2527+1102C>G) | |
2 | g.189004138C>T | CA349844316 | COL3A1 | c.2719C>T (p.Pro907Ser) c.2818C>T (p.Pro940Ser) c.2527+1102C>T (n.2527+1102C>T) | |
2 | g.189004139C>A | CA349844319 | COL3A1 | c.2720C>A (p.Pro907Gln) c.2819C>A (p.Pro940Gln) c.2527+1103C>A (n.2527+1103C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004139C= | CA1315403081 | COL3A1 | c.2720C= (p.Pro907=) c.2819C= (p.Pro940=) c.2527+1103C= (n.2527+1103C=) | |
2 | g.189004139C>G | CA349844320 | COL3A1 | c.2720C>G (p.Pro907Arg) c.2819C>G (p.Pro940Arg) c.2527+1103C>G (n.2527+1103C>G) | |
2 | g.189004139C>T | CA349844322 | COL3A1 | c.2720C>T (p.Pro907Leu) c.2819C>T (p.Pro940Leu) c.2527+1103C>T (n.2527+1103C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004140A>C | CA430312130 | COL3A1 | c.2721A>C (p.Pro907=) c.2820A>C (p.Pro940=) c.2527+1104A>C (n.2527+1104A>C) | |
2 | g.189004140A>G | CA430312133 | COL3A1 | c.2721A>G (p.Pro907=) c.2820A>G (p.Pro940=) c.2527+1104A>G (n.2527+1104A>G) | |
2 | g.189004140A>T | CA430312135 | COL3A1 | c.2721A>T (p.Pro907=) c.2820A>T (p.Pro940=) c.2527+1104A>T (n.2527+1104A>T) | |
2 | g.189004141C>A | CA349844325 | COL3A1 | c.2722C>A (p.Pro908Thr) c.2821C>A (p.Pro941Thr) c.2527+1105C>A (n.2527+1105C>A) | COSMIC |
2 | g.189004141C>G | CA349844326 | COL3A1 | c.2722C>G (p.Pro908Ala) c.2821C>G (p.Pro941Ala) c.2527+1105C>G (n.2527+1105C>G) | |
2 | g.189004141C>T | CA349844329 | COL3A1 | c.2722C>T (p.Pro908Ser) c.2821C>T (p.Pro941Ser) c.2527+1105C>T (n.2527+1105C>T) | |
2 | g.189004142C>A | CA349844335 | COL3A1 | c.2723C>A (p.Pro908Gln) c.2822C>A (p.Pro941Gln) c.2527+1106C>A (n.2527+1106C>A) | |
2 | g.189004142C= | CA1315403082 | COL3A1 | c.2723C= (p.Pro908=) c.2822C= (p.Pro941=) c.2527+1106C= (n.2527+1106C=) | |
2 | g.189004142C>G | CA349844333 | COL3A1 | c.2723C>G (p.Pro908Arg) c.2822C>G (p.Pro941Arg) c.2527+1106C>G (n.2527+1106C>G) | |
2 | g.189004142C>T | CA075607 | COL3A1 | c.2723C>T (p.Pro908Leu) c.2822C>T (p.Pro941Leu) c.2527+1106C>T (n.2527+1106C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189004143A>C | CA430312143 | COL3A1 | c.2724A>C (p.Pro908=) c.2823A>C (p.Pro941=) c.2527+1107A>C (n.2527+1107A>C) | |
2 | g.189004143A>G | CA430312142 | COL3A1 | c.2724A>G (p.Pro908=) c.2823A>G (p.Pro941=) c.2527+1107A>G (n.2527+1107A>G) | |
2 | g.189004143A>T | CA430312144 | COL3A1 | c.2724A>T (p.Pro908=) c.2823A>T (p.Pro941=) c.2527+1107A>T (n.2527+1107A>T) | |
2 | g.189004148_189004151del | CA2662310065 | COL3A1 | c.2724+5_2724+8del c.2823+5_2823+8del c.2527+1112_2527+1115del (n.2527+1112_2527+1115del) | ClinVar gnomAD v4 |
2 | g.189004144G>A | CA005713 | COL3A1 | c.2724+1G>A (n.2724+1G>A) c.2823+1G>A (n.2823+1G>A) c.2527+1108G>A (n.2527+1108G>A) | ClinVar dbSNP |
2 | g.189004144G>C | CA349844342 | COL3A1 | c.2724+1G>C (n.2724+1G>C) c.2823+1G>C (n.2823+1G>C) c.2527+1108G>C (n.2527+1108G>C) | |
2 | g.189004144G= | CA1315403083 | COL3A1 | c.2724+1G= (n.2724+1G=) c.2823+1G= (n.2823+1G=) c.2527+1108G= (n.2527+1108G=) | |
2 | g.189004144G>T | CA349844340 | COL3A1 | c.2724+1G>T (n.2724+1G>T) c.2823+1G>T (n.2823+1G>T) c.2527+1108G>T (n.2527+1108G>T) | ClinVar dbSNP |
2 | g.189004145_189004257del | CA2753571887 | COL3A1 | c.2724+2_2725del c.2823+2_2824del c.2527+1109_2527+1221del (n.2527+1109_2527+1221del) | |
2 | g.189004145T>A | CA349844344 | COL3A1 | c.2724+2T>A (n.2724+2T>A) c.2823+2T>A (n.2823+2T>A) c.2527+1109T>A (n.2527+1109T>A) | |
2 | g.189004145T>C | CA349844349 | COL3A1 | c.2724+2T>C (n.2724+2T>C) c.2823+2T>C (n.2823+2T>C) c.2527+1109T>C (n.2527+1109T>C) | |
2 | g.189004145T>G | CA349844347 | COL3A1 | c.2724+2T>G (n.2724+2T>G) c.2823+2T>G (n.2823+2T>G) c.2527+1109T>G (n.2527+1109T>G) | |
2 | g.189004146A>T | CA2662310066 | COL3A1 | c.2724+3A>T (n.2724+3A>T) c.2823+3A>T (n.2823+3A>T) c.2527+1110A>T (n.2527+1110A>T) | gnomAD v4 |
2 | g.189004147A>G | CA2825001057 | COL3A1 | c.2724+4A>G (n.2724+4A>G) c.2823+4A>G (n.2823+4A>G) c.2527+1111A>G (n.2527+1111A>G) | ClinVar |
2 | g.189004148G>A | CA1139657567 | COL3A1 | c.2724+5G>A (n.2724+5G>A) c.2823+5G>A (n.2823+5G>A) c.2527+1112G>A (n.2527+1112G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.189004148G>C | CA913187997 | COL3A1 | c.2724+5G>C (n.2724+5G>C) c.2823+5G>C (n.2823+5G>C) c.2527+1112G>C (n.2527+1112G>C) | ClinVar dbSNP |
2 | g.189004148G= | CA1315403084 | COL3A1 | c.2724+5G= (n.2724+5G=) c.2823+5G= (n.2823+5G=) c.2527+1112G= (n.2527+1112G=) | |
2 | g.189004151A= | CA1315403085 | COL3A1 | c.2724+8A= (n.2724+8A=) c.2823+8A= (n.2823+8A=) c.2527+1115A= (n.2527+1115A=) | |
2 | g.189004151A>G | CA1315403086 | COL3A1 | c.2724+8A>G (n.2724+8A>G) c.2823+8A>G (n.2823+8A>G) c.2527+1115A>G (n.2527+1115A>G) | dbSNP |
2 | g.189004152C= | CA1315403087 | COL3A1 | c.2724+9C= (n.2724+9C=) c.2823+9C= (n.2823+9C=) c.2527+1116C= (n.2527+1116C=) | |
2 | g.189004152C>T | CA762204398 | COL3A1 | c.2724+9C>T (n.2724+9C>T) c.2823+9C>T (n.2823+9C>T) c.2527+1116C>T (n.2527+1116C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004153T>A | CA075609 | COL3A1 | c.2724+10T>A (n.2724+10T>A) c.2823+10T>A (n.2823+10T>A) c.2527+1117T>A (n.2527+1117T>A) | dbSNP ExAC gnomAD v2 |
2 | g.189004153T>C | CA538476930 | COL3A1 | c.2724+10T>C (n.2724+10T>C) c.2823+10T>C (n.2823+10T>C) c.2527+1117T>C (n.2527+1117T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004153T= | CA1315403088 | COL3A1 | c.2724+10T= (n.2724+10T=) c.2823+10T= (n.2823+10T=) c.2527+1117T= (n.2527+1117T=) | |
2 | g.189004156A= | CA1315403089 | COL3A1 | c.2724+13A= (n.2724+13A=) c.2823+13A= (n.2823+13A=) c.2527+1120A= (n.2527+1120A=) | |
2 | g.189004156A>C | CA538476935 | COL3A1 | c.2724+13A>C (n.2724+13A>C) c.2823+13A>C (n.2823+13A>C) c.2527+1120A>C (n.2527+1120A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004156A>G | CA2662310067 | COL3A1 | c.2724+13A>G (n.2724+13A>G) c.2823+13A>G (n.2823+13A>G) c.2527+1120A>G (n.2527+1120A>G) | gnomAD v4 |
2 | g.189004156A>T | CA2662310068 | COL3A1 | c.2724+13A>T (n.2724+13A>T) c.2823+13A>T (n.2823+13A>T) c.2527+1120A>T (n.2527+1120A>T) | gnomAD v4 |
2 | g.189004157T>C | CA075612 | COL3A1 | c.2724+14T>C (n.2724+14T>C) c.2823+14T>C (n.2823+14T>C) c.2527+1121T>C (n.2527+1121T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004157T= | CA1315403091 | COL3A1 | c.2724+14T= (n.2724+14T=) c.2823+14T= (n.2823+14T=) c.2527+1121T= (n.2527+1121T=) | |
2 | g.189004163dup | CA658796121 | COL3A1 | c.2724+20dup (n.2724+20dup) c.2823+20dup (n.2823+20dup) c.2527+1127dup (n.2527+1127dup) | ClinVar dbSNP gnomAD v4 |
2 | g.189004162_189004163dup | CA1315403090 | COL3A1 | c.2724+19_2724+20dup (n.2724+19_2724+20dup) c.2823+19_2823+20dup (n.2823+19_2823+20dup) c.2527+1126_2527+1127dup (n.2527+1126_2527+1127dup) | dbSNP |
2 | g.189004163del | CA2577185818 | COL3A1 | c.2724+20del (n.2724+20del) c.2823+20del (n.2823+20del) c.2527+1127del (n.2527+1127del) | |
2 | g.189004160T>G | CA1315403093 | COL3A1 | c.2724+17T>G (n.2724+17T>G) c.2823+17T>G (n.2823+17T>G) c.2527+1124T>G (n.2527+1124T>G) | dbSNP |
2 | g.189004160T= | CA1315403092 | COL3A1 | c.2724+17T= (n.2724+17T=) c.2823+17T= (n.2823+17T=) c.2527+1124T= (n.2527+1124T=) | |
2 | g.189004161T>C | CA2662310069 | COL3A1 | c.2724+18T>C (n.2724+18T>C) c.2823+18T>C (n.2823+18T>C) c.2527+1125T>C (n.2527+1125T>C) | gnomAD v4 |
2 | g.189004162T>C | CA2662310070 | COL3A1 | c.2724+19T>C (n.2724+19T>C) c.2823+19T>C (n.2823+19T>C) c.2527+1126T>C (n.2527+1126T>C) | gnomAD v4 |
2 | g.189004163T>A | CA075616 | COL3A1 | c.2724+20T>A (n.2724+20T>A) c.2823+20T>A (n.2823+20T>A) c.2527+1127T>A (n.2527+1127T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004163T= | CA1315403094 | COL3A1 | c.2724+20T= (n.2724+20T=) c.2823+20T= (n.2823+20T=) c.2527+1127T= (n.2527+1127T=) | |
2 | g.189004164A= | CA1315403095 | COL3A1 | c.2724+21A= (n.2724+21A=) c.2823+21A= (n.2823+21A=) c.2527+1128A= (n.2527+1128A=) | |
2 | g.189004164A>T | CA538448886 | COL3A1 | c.2724+21A>T (n.2724+21A>T) c.2823+21A>T (n.2823+21A>T) c.2527+1128A>T (n.2527+1128A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004170A= | CA1315403096 | COL3A1 | c.2724+27A= (n.2724+27A=) c.2823+27A= (n.2823+27A=) c.2527+1134A= (n.2527+1134A=) | |
2 | g.189004170A>C | CA2662310071 | COL3A1 | c.2724+27A>C (n.2724+27A>C) c.2823+27A>C (n.2823+27A>C) c.2527+1134A>C (n.2527+1134A>C) | gnomAD v4 |
2 | g.189004170A>G | CA62557489 | COL3A1 | c.2724+27A>G (n.2724+27A>G) c.2823+27A>G (n.2823+27A>G) c.2527+1134A>G (n.2527+1134A>G) | dbSNP |
2 | g.189004171T>C | CA1315403098 | COL3A1 | c.2724+28T>C (n.2724+28T>C) c.2823+28T>C (n.2823+28T>C) c.2527+1135T>C (n.2527+1135T>C) | dbSNP |
2 | g.189004171T= | CA1315403097 | COL3A1 | c.2724+28T= (n.2724+28T=) c.2823+28T= (n.2823+28T=) c.2527+1135T= (n.2527+1135T=) | |
2 | g.189004172dup | CA2740351976 | COL3A1 | c.2724+29dup (n.2724+29dup) c.2823+29dup (n.2823+29dup) c.2527+1136dup (n.2527+1136dup) | |
2 | g.189004172T>C | CA2662310072 | COL3A1 | c.2724+29T>C (n.2724+29T>C) c.2823+29T>C (n.2823+29T>C) c.2527+1136T>C (n.2527+1136T>C) | gnomAD v4 |
2 | g.189004174T>A | CA538448887 | COL3A1 | c.2724+31T>A (n.2724+31T>A) c.2823+31T>A (n.2823+31T>A) c.2527+1138T>A (n.2527+1138T>A) | dbSNP gnomAD v2 |
2 | g.189004174T>C | CA538448888 | COL3A1 | c.2724+31T>C (n.2724+31T>C) c.2823+31T>C (n.2823+31T>C) c.2527+1138T>C (n.2527+1138T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004174T= | CA1315403099 | COL3A1 | c.2724+31T= (n.2724+31T=) c.2823+31T= (n.2823+31T=) c.2527+1138T= (n.2527+1138T=) | |
2 | g.189004175A>G | CA2662310073 | COL3A1 | c.2724+32A>G (n.2724+32A>G) c.2823+32A>G (n.2823+32A>G) c.2527+1139A>G (n.2527+1139A>G) | gnomAD v4 |
2 | g.189004175_189004176delinsAC | CA1315403100 | COL3A1 | c.2724+32_2724+33delinsAC (n.2724+32_2724+33delinsAC) c.2823+32_2823+33delinsAC (n.2823+32_2823+33delinsAC) c.2527+1139_2527+1140delinsAC (n.2527+1139_2527+1140delinsAC) | |
2 | g.189004176del | CA1040411562 | COL3A1 | c.2724+33del (n.2724+33del) c.2823+33del (n.2823+33del) c.2527+1140del (n.2527+1140del) | dbSNP |
2 | g.189004177T>C | CA2753571889 | COL3A1 | c.2724+34T>C (n.2724+34T>C) c.2823+34T>C (n.2823+34T>C) c.2527+1141T>C (n.2527+1141T>C) | |
2 | g.189004177T>G | CA62557491 | COL3A1 | c.2724+34T>G (n.2724+34T>G) c.2823+34T>G (n.2823+34T>G) c.2527+1141T>G (n.2527+1141T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004177T= | CA1315403101 | COL3A1 | c.2724+34T= (n.2724+34T=) c.2823+34T= (n.2823+34T=) c.2527+1141T= (n.2527+1141T=) | |
2 | g.189004182del | CA2740351977 | COL3A1 | c.2724+39del (n.2724+39del) c.2823+39del (n.2823+39del) c.2527+1146del (n.2527+1146del) | |
2 | g.189004180T>A | CA62557496 | COL3A1 | c.2724+37T>A (n.2724+37T>A) c.2823+37T>A (n.2823+37T>A) c.2527+1144T>A (n.2527+1144T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004180T= | CA1315403102 | COL3A1 | c.2724+37T= (n.2724+37T=) c.2823+37T= (n.2823+37T=) c.2527+1144T= (n.2527+1144T=) | |
2 | g.189004183G>A | CA075620 | COL3A1 | c.2724+40G>A (n.2724+40G>A) c.2823+40G>A (n.2823+40G>A) c.2527+1147G>A (n.2527+1147G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004183G>C | CA2577185819 | COL3A1 | c.2724+40G>C (n.2724+40G>C) c.2823+40G>C (n.2823+40G>C) c.2527+1147G>C (n.2527+1147G>C) | |
2 | g.189004183G= | CA1315403103 | COL3A1 | c.2724+40G= (n.2724+40G=) c.2823+40G= (n.2823+40G=) c.2527+1147G= (n.2527+1147G=) | |
2 | g.189004183G>T | CA1040411573 | COL3A1 | c.2724+40G>T (n.2724+40G>T) c.2823+40G>T (n.2823+40G>T) c.2527+1147G>T (n.2527+1147G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004184A= | CA1315403104 | COL3A1 | c.2724+41A= (n.2724+41A=) c.2823+41A= (n.2823+41A=) c.2527+1148A= (n.2527+1148A=) | |
2 | g.189004184A>G | CA762204442 | COL3A1 | c.2724+41A>G (n.2724+41A>G) c.2823+41A>G (n.2823+41A>G) c.2527+1148A>G (n.2527+1148A>G) | dbSNP |
2 | g.189004191T>C | CA2577185820 | COL3A1 | c.2724+48T>C (n.2724+48T>C) c.2823+48T>C (n.2823+48T>C) c.2527+1155T>C (n.2527+1155T>C) | gnomAD v4 |
2 | g.189004193A= | CA1315403105 | COL3A1 | c.2724+50A= (n.2724+50A=) c.2823+50A= (n.2823+50A=) c.2527+1157A= (n.2527+1157A=) | |
2 | g.189004193A>G | CA075622 | COL3A1 | c.2724+50A>G (n.2724+50A>G) c.2823+50A>G (n.2823+50A>G) c.2527+1157A>G (n.2527+1157A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004195A>C | CA2662310074 | COL3A1 | c.2724+52A>C (n.2724+52A>C) c.2823+52A>C (n.2823+52A>C) c.2527+1159A>C (n.2527+1159A>C) | gnomAD v4 |
2 | g.189004196A>G | CA2662310075 | COL3A1 | c.2724+53A>G (n.2724+53A>G) c.2823+53A>G (n.2823+53A>G) c.2527+1160A>G (n.2527+1160A>G) | gnomAD v4 |
2 | g.189004197A= | CA1315403107 | COL3A1 | c.2724+54A= (n.2724+54A=) c.2823+54A= (n.2823+54A=) c.2527+1161A= (n.2527+1161A=) | |
2 | g.189004197A>G | CA1040411576 | COL3A1 | c.2724+54A>G (n.2724+54A>G) c.2823+54A>G (n.2823+54A>G) c.2527+1161A>G (n.2527+1161A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004197_189004198delinsAT | CA1315403106 | COL3A1 | c.2724+54_2724+55delinsAT (n.2724+54_2724+55delinsAT) c.2823+54_2823+55delinsAT (n.2823+54_2823+55delinsAT) c.2527+1161_2527+1162delinsAT (n.2527+1161_2527+1162delinsAT) | |
2 | g.189004198del | CA538448889 | COL3A1 | c.2724+55del (n.2724+55del) c.2823+55del (n.2823+55del) c.2527+1162del (n.2527+1162del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004198T>A | CA2577185821 | COL3A1 | c.2724+55T>A (n.2724+55T>A) c.2823+55T>A (n.2823+55T>A) c.2527+1162T>A (n.2527+1162T>A) | |
2 | g.189004198T>C | CA2662310076 | COL3A1 | c.2724+55T>C (n.2724+55T>C) c.2823+55T>C (n.2823+55T>C) c.2527+1162T>C (n.2527+1162T>C) | gnomAD v4 |
2 | g.189004199C>A | CA762204453 | COL3A1 | c.2724+56C>A (n.2724+56C>A) c.2823+56C>A (n.2823+56C>A) c.2527+1163C>A (n.2527+1163C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004199C= | CA1315403108 | COL3A1 | c.2724+56C= (n.2724+56C=) c.2823+56C= (n.2823+56C=) c.2527+1163C= (n.2527+1163C=) | |
2 | g.189004199C>T | CA62557508 | COL3A1 | c.2724+56C>T (n.2724+56C>T) c.2823+56C>T (n.2823+56C>T) c.2527+1163C>T (n.2527+1163C>T) | dbSNP gnomAD v4 |
2 | g.189004200G>A | CA762204456 | COL3A1 | c.2725-57G>A (n.2725-57G>A) c.2824-57G>A (n.2824-57G>A) c.2527+1164G>A (n.2527+1164G>A) | dbSNP gnomAD v4 |
2 | g.189004200G= | CA1315403109 | COL3A1 | c.2725-57G= (n.2725-57G=) c.2824-57G= (n.2824-57G=) c.2527+1164G= (n.2527+1164G=) | |
2 | g.189004200G>T | CA2662310077 | COL3A1 | c.2725-57G>T (n.2725-57G>T) c.2824-57G>T (n.2824-57G>T) c.2527+1164G>T (n.2527+1164G>T) | gnomAD v4 |
2 | g.189004201A>G | CA2662310078 | COL3A1 | c.2725-56A>G (n.2725-56A>G) c.2824-56A>G (n.2824-56A>G) c.2527+1165A>G (n.2527+1165A>G) | gnomAD v4 |
2 | g.189004201A>T | CA2662310079 | COL3A1 | c.2725-56A>T (n.2725-56A>T) c.2824-56A>T (n.2824-56A>T) c.2527+1165A>T (n.2527+1165A>T) | gnomAD v4 |
2 | g.189004202T>C | CA2662310080 | COL3A1 | c.2725-55T>C (n.2725-55T>C) c.2824-55T>C (n.2824-55T>C) c.2527+1166T>C (n.2527+1166T>C) | gnomAD v4 |
2 | g.189004202T>G | CA2662310081 | COL3A1 | c.2725-55T>G (n.2725-55T>G) c.2824-55T>G (n.2824-55T>G) c.2527+1166T>G (n.2527+1166T>G) | gnomAD v4 |
2 | g.189004204A>G | CA2662310082 | COL3A1 | c.2725-53A>G (n.2725-53A>G) c.2824-53A>G (n.2824-53A>G) c.2527+1168A>G (n.2527+1168A>G) | gnomAD v4 |
2 | g.189004205G>A | CA1315403111 | COL3A1 | c.2725-52G>A (n.2725-52G>A) c.2824-52G>A (n.2824-52G>A) c.2527+1169G>A (n.2527+1169G>A) | dbSNP gnomAD v4 |
2 | g.189004205G= | CA1315403110 | COL3A1 | c.2725-52G= (n.2725-52G=) c.2824-52G= (n.2824-52G=) c.2527+1169G= (n.2527+1169G=) | |
2 | g.189004206A= | CA1315403112 | COL3A1 | c.2725-51A= (n.2725-51A=) c.2824-51A= (n.2824-51A=) c.2527+1170A= (n.2527+1170A=) | |
2 | g.189004206A>G | CA075651 | COL3A1 | c.2725-51A>G (n.2725-51A>G) c.2824-51A>G (n.2824-51A>G) c.2527+1170A>G (n.2527+1170A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004208A= | CA1315403114 | COL3A1 | c.2725-49A= (n.2725-49A=) c.2824-49A= (n.2824-49A=) c.2527+1172A= (n.2527+1172A=) | |
2 | g.189004208A>G | CA1315403113 | COL3A1 | c.2725-49A>G (n.2725-49A>G) c.2824-49A>G (n.2824-49A>G) c.2527+1172A>G (n.2527+1172A>G) | dbSNP gnomAD v4 |
2 | g.189004211_189004212dup | CA2662310083 | COL3A1 | c.2725-46_2725-45dup (n.2725-46_2725-45dup) c.2824-46_2824-45dup (n.2824-46_2824-45dup) c.2527+1175_2527+1176dup (n.2527+1175_2527+1176dup) | gnomAD v4 |