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.189004145_189004257del | CA2753571887 | COL3A1 | c.2724+2_2725del c.2823+2_2824del c.2527+1109_2527+1221del (n.2527+1109_2527+1221del) | |
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 |
2 | g.189004210A= | CA1315403115 | COL3A1 | c.2725-47A= (n.2725-47A=) c.2824-47A= (n.2824-47A=) c.2527+1174A= (n.2527+1174A=) | |
2 | g.189004210A>G | CA075645 | COL3A1 | c.2725-47A>G (n.2725-47A>G) c.2824-47A>G (n.2824-47A>G) c.2527+1174A>G (n.2527+1174A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189004212A= | CA1315403116 | COL3A1 | c.2725-45A= (n.2725-45A=) c.2824-45A= (n.2824-45A=) c.2527+1176A= (n.2527+1176A=) | |
2 | g.189004212A>C | CA538448890 | COL3A1 | c.2725-45A>C (n.2725-45A>C) c.2824-45A>C (n.2824-45A>C) c.2527+1176A>C (n.2527+1176A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004212A>G | CA2662310084 | COL3A1 | c.2725-45A>G (n.2725-45A>G) c.2824-45A>G (n.2824-45A>G) c.2527+1176A>G (n.2527+1176A>G) | gnomAD v4 |
2 | g.189004213C= | CA1315403117 | COL3A1 | c.2725-44C= (n.2725-44C=) c.2824-44C= (n.2824-44C=) c.2527+1177C= (n.2527+1177C=) | |
2 | g.189004213C>T | CA1315403118 | COL3A1 | c.2725-44C>T (n.2725-44C>T) c.2824-44C>T (n.2824-44C>T) c.2527+1177C>T (n.2527+1177C>T) | dbSNP |
2 | g.189004214A>G | CA2577185822 | COL3A1 | c.2725-43A>G (n.2725-43A>G) c.2824-43A>G (n.2824-43A>G) c.2527+1178A>G (n.2527+1178A>G) | gnomAD v4 |
2 | g.189004215C>A | CA2662310085 | COL3A1 | c.2725-42C>A (n.2725-42C>A) c.2824-42C>A (n.2824-42C>A) c.2527+1179C>A (n.2527+1179C>A) | gnomAD v4 |
2 | g.189004215C= | CA1315403119 | COL3A1 | c.2725-42C= (n.2725-42C=) c.2824-42C= (n.2824-42C=) c.2527+1179C= (n.2527+1179C=) | |
2 | g.189004215C>G | CA2662310086 | COL3A1 | c.2725-42C>G (n.2725-42C>G) c.2824-42C>G (n.2824-42C>G) c.2527+1179C>G (n.2527+1179C>G) | gnomAD v4 |
2 | g.189004215C>T | CA075642 | COL3A1 | c.2725-42C>T (n.2725-42C>T) c.2824-42C>T (n.2824-42C>T) c.2527+1179C>T (n.2527+1179C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189004217G>A | CA075637 | COL3A1 | c.2725-40G>A (n.2725-40G>A) c.2824-40G>A (n.2824-40G>A) c.2527+1181G>A (n.2527+1181G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004217G= | CA1315403120 | COL3A1 | c.2725-40G= (n.2725-40G=) c.2824-40G= (n.2824-40G=) c.2527+1181G= (n.2527+1181G=) | |
2 | g.189004218T>A | CA2662310087 | COL3A1 | c.2725-39T>A (n.2725-39T>A) c.2824-39T>A (n.2824-39T>A) c.2527+1182T>A (n.2527+1182T>A) | gnomAD v4 |
2 | g.189004218T>C | CA762204463 | COL3A1 | c.2725-39T>C (n.2725-39T>C) c.2824-39T>C (n.2824-39T>C) c.2527+1182T>C (n.2527+1182T>C) | dbSNP |
2 | g.189004218T= | CA1315403121 | COL3A1 | c.2725-39T= (n.2725-39T=) c.2824-39T= (n.2824-39T=) c.2527+1182T= (n.2527+1182T=) | |
2 | g.189004219C= | CA1315403122 | COL3A1 | c.2725-38C= (n.2725-38C=) c.2824-38C= (n.2824-38C=) c.2527+1183C= (n.2527+1183C=) | |
2 | g.189004219C>T | CA538448891 | COL3A1 | c.2725-38C>T (n.2725-38C>T) c.2824-38C>T (n.2824-38C>T) c.2527+1183C>T (n.2527+1183C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004221C= | CA1315403123 | COL3A1 | c.2725-36C= (n.2725-36C=) c.2824-36C= (n.2824-36C=) c.2527+1185C= (n.2527+1185C=) | |
2 | g.189004221C>T | CA075634 | COL3A1 | c.2725-36C>T (n.2725-36C>T) c.2824-36C>T (n.2824-36C>T) c.2527+1185C>T (n.2527+1185C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004222A= | CA1315403124 | COL3A1 | c.2725-35A= (n.2725-35A=) c.2824-35A= (n.2824-35A=) c.2527+1186A= (n.2527+1186A=) | |
2 | g.189004222A>G | CA538448892 | COL3A1 | c.2725-35A>G (n.2725-35A>G) c.2824-35A>G (n.2824-35A>G) c.2527+1186A>G (n.2527+1186A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004223T>A | CA2662310088 | COL3A1 | c.2725-34T>A (n.2725-34T>A) c.2824-34T>A (n.2824-34T>A) c.2527+1187T>A (n.2527+1187T>A) | gnomAD v4 |
2 | g.189004223T>C | CA2753571890 | COL3A1 | c.2725-34T>C (n.2725-34T>C) c.2824-34T>C (n.2824-34T>C) c.2527+1187T>C (n.2527+1187T>C) | |
2 | g.189004223T>G | CA075631 | COL3A1 | c.2725-34T>G (n.2725-34T>G) c.2824-34T>G (n.2824-34T>G) c.2527+1187T>G (n.2527+1187T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189004223T= | CA1315403125 | COL3A1 | c.2725-34T= (n.2725-34T=) c.2824-34T= (n.2824-34T=) c.2527+1187T= (n.2527+1187T=) | |
2 | g.189004223dup | CA2662310089 | COL3A1 | c.2725-34dup (n.2725-34dup) c.2824-34dup (n.2824-34dup) c.2527+1187dup (n.2527+1187dup) | gnomAD v4 |
2 | g.189004224A= | CA1315403126 | COL3A1 | c.2725-33A= (n.2725-33A=) c.2824-33A= (n.2824-33A=) c.2527+1188A= (n.2527+1188A=) | |
2 | g.189004224A>G | CA538448893 | COL3A1 | c.2725-33A>G (n.2725-33A>G) c.2824-33A>G (n.2824-33A>G) c.2527+1188A>G (n.2527+1188A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004225A= | CA1315403127 | COL3A1 | c.2725-32A= (n.2725-32A=) c.2824-32A= (n.2824-32A=) c.2527+1189A= (n.2527+1189A=) | |
2 | g.189004225A>G | CA762204484 | COL3A1 | c.2725-32A>G (n.2725-32A>G) c.2824-32A>G (n.2824-32A>G) c.2527+1189A>G (n.2527+1189A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004229T>G | CA2753571891 | COL3A1 | c.2725-28T>G (n.2725-28T>G) c.2824-28T>G (n.2824-28T>G) c.2527+1193T>G (n.2527+1193T>G) | |
2 | g.189004230G>A | CA2662310090 | COL3A1 | c.2725-27G>A (n.2725-27G>A) c.2824-27G>A (n.2824-27G>A) c.2527+1194G>A (n.2527+1194G>A) | gnomAD v4 |
2 | g.189004232G>A | CA075628 | COL3A1 | c.2725-25G>A (n.2725-25G>A) c.2824-25G>A (n.2824-25G>A) c.2527+1196G>A (n.2527+1196G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004232G= | CA1315403128 | COL3A1 | c.2725-25G= (n.2725-25G=) c.2824-25G= (n.2824-25G=) c.2527+1196G= (n.2527+1196G=) | |
2 | g.189004233C= | CA1315403129 | COL3A1 | c.2725-24C= (n.2725-24C=) c.2824-24C= (n.2824-24C=) c.2527+1197C= (n.2527+1197C=) | |
2 | g.189004233C>T | CA62557521 | COL3A1 | c.2725-24C>T (n.2725-24C>T) c.2824-24C>T (n.2824-24C>T) c.2527+1197C>T (n.2527+1197C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004234T>G | CA1315403131 | COL3A1 | c.2725-23T>G (n.2725-23T>G) c.2824-23T>G (n.2824-23T>G) c.2527+1198T>G (n.2527+1198T>G) | dbSNP |
2 | g.189004234T= | CA1315403130 | COL3A1 | c.2725-23T= (n.2725-23T=) c.2824-23T= (n.2824-23T=) c.2527+1198T= (n.2527+1198T=) | |
2 | g.189004235A>G | CA2753571892 | COL3A1 | c.2725-22A>G (n.2725-22A>G) c.2824-22A>G (n.2824-22A>G) c.2527+1199A>G (n.2527+1199A>G) | |
2 | g.189004236A= | CA1315403132 | COL3A1 | c.2725-21A= (n.2725-21A=) c.2824-21A= (n.2824-21A=) c.2527+1200A= (n.2527+1200A=) | |
2 | g.189004236A>G | CA762204487 | COL3A1 | c.2725-21A>G (n.2725-21A>G) c.2824-21A>G (n.2824-21A>G) c.2527+1200A>G (n.2527+1200A>G) | dbSNP |
2 | g.189004238T>A | CA075625 | COL3A1 | c.2725-19T>A (n.2725-19T>A) c.2824-19T>A (n.2824-19T>A) c.2527+1202T>A (n.2527+1202T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004238T= | CA1315403133 | COL3A1 | c.2725-19T= (n.2725-19T=) c.2824-19T= (n.2824-19T=) c.2527+1202T= (n.2527+1202T=) | |
2 | g.189004239C= | CA1315403134 | COL3A1 | c.2725-18C= (n.2725-18C=) c.2824-18C= (n.2824-18C=) c.2527+1203C= (n.2527+1203C=) | |
2 | g.189004239C>G | CA1315403135 | COL3A1 | c.2725-18C>G (n.2725-18C>G) c.2824-18C>G (n.2824-18C>G) c.2527+1203C>G (n.2527+1203C>G) | dbSNP |
2 | g.189004240T>C | CA2662310091 | COL3A1 | c.2725-17T>C (n.2725-17T>C) c.2824-17T>C (n.2824-17T>C) c.2527+1204T>C (n.2527+1204T>C) | gnomAD v4 |
2 | g.189004242C>T | CA2662310092 | COL3A1 | c.2725-15C>T (n.2725-15C>T) c.2824-15C>T (n.2824-15C>T) c.2527+1206C>T (n.2527+1206C>T) | ClinVar gnomAD v4 |
2 | g.189004243A= | CA1315403136 | COL3A1 | c.2725-14A= (n.2725-14A=) c.2824-14A= (n.2824-14A=) c.2527+1207A= (n.2527+1207A=) | |
2 | g.189004243A>G | CA1315403137 | COL3A1 | c.2725-14A>G (n.2725-14A>G) c.2824-14A>G (n.2824-14A>G) c.2527+1207A>G (n.2527+1207A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.189004245T>A | CA2662310093 | COL3A1 | c.2725-12T>A (n.2725-12T>A) c.2824-12T>A (n.2824-12T>A) c.2527+1209T>A (n.2527+1209T>A) | gnomAD v4 |
2 | g.189004245T>C | CA538448894 | COL3A1 | c.2725-12T>C (n.2725-12T>C) c.2824-12T>C (n.2824-12T>C) c.2527+1209T>C (n.2527+1209T>C) | ClinVar dbSNP gnomAD v2 |
2 | g.189004245T= | CA1315403138 | COL3A1 | c.2725-12T= (n.2725-12T=) c.2824-12T= (n.2824-12T=) c.2527+1209T= (n.2527+1209T=) | |
2 | g.189004246A>G | CA2662310094 | COL3A1 | c.2725-11A>G (n.2725-11A>G) c.2824-11A>G (n.2824-11A>G) c.2527+1210A>G (n.2527+1210A>G) | gnomAD v4 |
2 | g.189004247T>A | CA2573051819 | COL3A1 | c.2725-10T>A (n.2725-10T>A) c.2824-10T>A (n.2824-10T>A) c.2527+1211T>A (n.2527+1211T>A) | ClinVar dbSNP |
2 | g.189004247T>G | CA2753571893 | COL3A1 | c.2725-10T>G (n.2725-10T>G) c.2824-10T>G (n.2824-10T>G) c.2527+1211T>G (n.2527+1211T>G) | |
2 | g.189004248C= | CA1315403139 | COL3A1 | c.2725-9C= (n.2725-9C=) c.2824-9C= (n.2824-9C=) c.2527+1212C= (n.2527+1212C=) | |
2 | g.189004248C>T | CA658821162 | COL3A1 | c.2725-9C>T (n.2725-9C>T) c.2824-9C>T (n.2824-9C>T) c.2527+1212C>T (n.2527+1212C>T) | ClinVar dbSNP |
2 | g.189004249T>C | CA762204491 | COL3A1 | c.2725-8T>C (n.2725-8T>C) c.2824-8T>C (n.2824-8T>C) c.2527+1213T>C (n.2527+1213T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004249T= | CA1315403140 | COL3A1 | c.2725-8T= (n.2725-8T=) c.2824-8T= (n.2824-8T=) c.2527+1213T= (n.2527+1213T=) | |
2 | g.189004250G>A | CA913187998 | COL3A1 | c.2725-7G>A (n.2725-7G>A) c.2824-7G>A (n.2824-7G>A) c.2527+1214G>A (n.2527+1214G>A) | ClinVar dbSNP |
2 | g.189004250G= | CA1315403141 | COL3A1 | c.2725-7G= (n.2725-7G=) c.2824-7G= (n.2824-7G=) c.2527+1214G= (n.2527+1214G=) | |
2 | g.189004251T>C | CA62557522 | COL3A1 | c.2725-6T>C (n.2725-6T>C) c.2824-6T>C (n.2824-6T>C) c.2527+1215T>C (n.2527+1215T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004251T= | CA1315403142 | COL3A1 | c.2725-6T= (n.2725-6T=) c.2824-6T= (n.2824-6T=) c.2527+1215T= (n.2527+1215T=) | |
2 | g.189004251_189004252insC | CA538448895 | COL3A1 | c.2725-6_2725-5insC (n.2725-6_2725-5insC) c.2824-6_2824-5insC (n.2824-6_2824-5insC) c.2527+1215_2527+1216insC (n.2527+1215_2527+1216insC) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004252A= | CA1315403143 | COL3A1 | c.2725-5A= (n.2725-5A=) c.2824-5A= (n.2824-5A=) c.2527+1216A= (n.2527+1216A=) | |
2 | g.189004252A>G | CA658796122 | COL3A1 | c.2725-5A>G (n.2725-5A>G) c.2824-5A>G (n.2824-5A>G) c.2527+1216A>G (n.2527+1216A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.189004252A>T | CA62557523 | COL3A1 | c.2725-5A>T (n.2725-5A>T) c.2824-5A>T (n.2824-5A>T) c.2527+1216A>T (n.2527+1216A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004253T>C | CA1315403145 | COL3A1 | c.2725-4T>C (n.2725-4T>C) c.2824-4T>C (n.2824-4T>C) c.2527+1217T>C (n.2527+1217T>C) | dbSNP gnomAD v4 |
2 | g.189004253T= | CA1315403144 | COL3A1 | c.2725-4T= (n.2725-4T=) c.2824-4T= (n.2824-4T=) c.2527+1217T= (n.2527+1217T=) | |
2 | g.189004254T>C | CA1315403147 | COL3A1 | c.2725-3T>C (n.2725-3T>C) c.2824-3T>C (n.2824-3T>C) c.2527+1218T>C (n.2527+1218T>C) | ClinVar dbSNP |
2 | g.189004254T= | CA1315403146 | COL3A1 | c.2725-3T= (n.2725-3T=) c.2824-3T= (n.2824-3T=) c.2527+1218T= (n.2527+1218T=) | |
2 | g.189004255A>C | CA349844376 | COL3A1 | c.2725-2A>C (n.2725-2A>C) c.2824-2A>C (n.2824-2A>C) c.2527+1219A>C (n.2527+1219A>C) | COSMIC |
2 | g.189004255A>G | CA349844377 | COL3A1 | c.2725-2A>G (n.2725-2A>G) c.2824-2A>G (n.2824-2A>G) c.2527+1219A>G (n.2527+1219A>G) | gnomAD v4 |
2 | g.189004255A>T | CA349844379 | COL3A1 | c.2725-2A>T (n.2725-2A>T) c.2824-2A>T (n.2824-2A>T) c.2527+1219A>T (n.2527+1219A>T) | |
2 | g.189004256G>A | CA005719 | COL3A1 | c.2725-1G>A (n.2725-1G>A) c.2824-1G>A (n.2824-1G>A) c.2527+1220G>A (n.2527+1220G>A) | ClinVar dbSNP |
2 | g.189004256G>C | CA349844383 | COL3A1 | c.2725-1G>C (n.2725-1G>C) c.2824-1G>C (n.2824-1G>C) c.2527+1220G>C (n.2527+1220G>C) | |
2 | g.189004256G= | CA1315403148 | COL3A1 | c.2725-1G= (n.2725-1G=) c.2824-1G= (n.2824-1G=) c.2527+1220G= (n.2527+1220G=) | |
2 | g.189004256G>T | CA349844385 | COL3A1 | c.2725-1G>T (n.2725-1G>T) c.2824-1G>T (n.2824-1G>T) c.2527+1220G>T (n.2527+1220G>T) | gnomAD v4 |
2 | g.189004257G>A | CA005726 | COL3A1 | c.2725G>A (p.Gly909Arg) c.2824G>A (p.Gly942Arg) c.2527+1221G>A (n.2527+1221G>A) | ClinVar dbSNP |
2 | g.189004257G>C | CA349844389 | COL3A1 | c.2725G>C (p.Gly909Arg) c.2824G>C (p.Gly942Arg) c.2527+1221G>C (n.2527+1221G>C) | |
2 | g.189004257G= | CA1315403149 | COL3A1 | c.2725G= (p.Gly909=) c.2824G= (p.Gly942=) c.2527+1221G= (n.2527+1221G=) | |
2 | g.189004257G>T | CA349844391 | COL3A1 | c.2725G>T (p.Gly909Ter) c.2824G>T (p.Gly942Ter) c.2527+1221G>T (n.2527+1221G>T) | |
2 | g.189004258G>A | CA005734 | COL3A1 | c.2726G>A (p.Gly909Glu) c.2825G>A (p.Gly942Glu) c.2527+1222G>A (n.2527+1222G>A) | ClinVar dbSNP COSMIC |
2 | g.189004258G>C | CA349844396 | COL3A1 | c.2726G>C (p.Gly909Ala) c.2825G>C (p.Gly942Ala) c.2527+1222G>C (n.2527+1222G>C) | |
2 | g.189004258G= | CA1315403150 | COL3A1 | c.2726G= (p.Gly909=) c.2825G= (p.Gly942=) c.2527+1222G= (n.2527+1222G=) | |
2 | g.189004258G>T | CA349844395 | COL3A1 | c.2726G>T (p.Gly909Val) c.2825G>T (p.Gly942Val) c.2527+1222G>T (n.2527+1222G>T) | |
2 | g.189004259A>C | CA430312181 | COL3A1 | c.2727A>C (p.Gly909=) c.2826A>C (p.Gly942=) c.2527+1223A>C (n.2527+1223A>C) | |
2 | g.189004259A>G | CA430312182 | COL3A1 | c.2727A>G (p.Gly909=) c.2826A>G (p.Gly942=) c.2527+1223A>G (n.2527+1223A>G) | |
2 | g.189004259A>T | CA430312183 | COL3A1 | c.2727A>T (p.Gly909=) c.2826A>T (p.Gly942=) c.2527+1223A>T (n.2527+1223A>T) | |
2 | g.189004260G>A | CA349844398 | COL3A1 | c.2728G>A (p.Ala910Thr) c.2827G>A (p.Ala943Thr) c.2527+1224G>A (n.2527+1224G>A) | |
2 | g.189004260G>C | CA349844399 | COL3A1 | c.2728G>C (p.Ala910Pro) c.2827G>C (p.Ala943Pro) c.2527+1224G>C (n.2527+1224G>C) | gnomAD v4 |
2 | g.189004260G>T | CA349844402 | COL3A1 | c.2728G>T (p.Ala910Ser) c.2827G>T (p.Ala943Ser) c.2527+1224G>T (n.2527+1224G>T) | gnomAD v4 |
2 | g.189004260_189004261delinsGC | CA1315403151 | COL3A1 | c.2728_2729delinsGC (p.Ala910=) c.2827_2828delinsGC (p.Ala943=) c.2527+1224_2527+1225delinsGC (n.2527+1224_2527+1225delinsGC) | |
2 | g.189004261del | CA658796123 | COL3A1 | c.2729del (p.Ala910ValfsTer?) c.2828del (p.Ala943ValfsTer?) c.2527+1225del (n.2527+1225del) | ClinVar dbSNP |
2 | g.189004261C>A | CA349844404 | COL3A1 | c.2729C>A (p.Ala910Asp) c.2828C>A (p.Ala943Asp) c.2527+1225C>A (n.2527+1225C>A) | gnomAD v4 |
2 | g.189004261C>G | CA349844406 | COL3A1 | c.2729C>G (p.Ala910Gly) c.2828C>G (p.Ala943Gly) c.2527+1225C>G (n.2527+1225C>G) | |
2 | g.189004261C>T | CA349844408 | COL3A1 | c.2729C>T (p.Ala910Val) c.2828C>T (p.Ala943Val) c.2527+1225C>T (n.2527+1225C>T) | |
2 | g.189004262T>A | CA430312186 | COL3A1 | c.2730T>A (p.Ala910=) c.2829T>A (p.Ala943=) c.2527+1226T>A (n.2527+1226T>A) | |
2 | g.189004262T>C | CA430312184 | COL3A1 | c.2730T>C (p.Ala910=) c.2829T>C (p.Ala943=) c.2527+1226T>C (n.2527+1226T>C) | |
2 | g.189004262T>G | CA430312185 | COL3A1 | c.2730T>G (p.Ala910=) c.2829T>G (p.Ala943=) c.2527+1226T>G (n.2527+1226T>G) | |
2 | g.189004263C>A | CA349844411 | COL3A1 | c.2731C>A (p.Pro911Thr) c.2830C>A (p.Pro944Thr) c.2527+1227C>A (n.2527+1227C>A) | gnomAD v4 |
2 | g.189004263C>G | CA349844412 | COL3A1 | c.2731C>G (p.Pro911Ala) c.2830C>G (p.Pro944Ala) c.2527+1227C>G (n.2527+1227C>G) | |
2 | g.189004263C>T | CA349844415 | COL3A1 | c.2731C>T (p.Pro911Ser) c.2830C>T (p.Pro944Ser) c.2527+1227C>T (n.2527+1227C>T) | |
2 | g.189004263_189004264delinsTT | CA645514671 | COL3A1 | c.2731_2732delinsTT (p.Pro911Leu) c.2830_2831delinsTT (p.Pro944Leu) c.2527+1227_2527+1228delinsTT (n.2527+1227_2527+1228delinsTT) | COSMIC |
2 | g.189004264C>A | CA349844417 | COL3A1 | c.2732C>A (p.Pro911Gln) c.2831C>A (p.Pro944Gln) c.2527+1228C>A (n.2527+1228C>A) | |
2 | g.189004264C>G | CA349844420 | COL3A1 | c.2732C>G (p.Pro911Arg) c.2831C>G (p.Pro944Arg) c.2527+1228C>G (n.2527+1228C>G) | |
2 | g.189004264C>T | CA349844422 | COL3A1 | c.2732C>T (p.Pro911Leu) c.2831C>T (p.Pro944Leu) c.2527+1228C>T (n.2527+1228C>T) | |
2 | g.189004265A>C | CA430312188 | COL3A1 | c.2733A>C (p.Pro911=) c.2832A>C (p.Pro944=) c.2527+1229A>C (n.2527+1229A>C) | |
2 | g.189004265A>G | CA430312189 | COL3A1 | c.2733A>G (p.Pro911=) c.2832A>G (p.Pro944=) c.2527+1229A>G (n.2527+1229A>G) | ClinVar gnomAD v4 |
2 | g.189004265A>T | CA430312190 | COL3A1 | c.2733A>T (p.Pro911=) c.2832A>T (p.Pro944=) c.2527+1229A>T (n.2527+1229A>T) | |
2 | g.189004266G>A | CA005741 | COL3A1 | c.2734G>A (p.Gly912Ser) c.2833G>A (p.Gly945Ser) c.2527+1230G>A (n.2527+1230G>A) | ClinVar dbSNP |
2 | g.189004266G>C | CA349844426 | COL3A1 | c.2734G>C (p.Gly912Arg) c.2833G>C (p.Gly945Arg) c.2527+1230G>C (n.2527+1230G>C) | |
2 | g.189004266G= | CA1315403152 | COL3A1 | c.2734G= (p.Gly912=) c.2833G= (p.Gly945=) c.2527+1230G= (n.2527+1230G=) | |
2 | g.189004266G>T | CA349844424 | COL3A1 | c.2734G>T (p.Gly912Cys) c.2833G>T (p.Gly945Cys) c.2527+1230G>T (n.2527+1230G>T) | gnomAD v4 |
2 | g.189004267G>A | CA349844429 | COL3A1 | c.2735G>A (p.Gly912Asp) c.2834G>A (p.Gly945Asp) c.2527+1231G>A (n.2527+1231G>A) | |
2 | g.189004267G>C | CA349844431 | COL3A1 | c.2735G>C (p.Gly912Ala) c.2834G>C (p.Gly945Ala) c.2527+1231G>C (n.2527+1231G>C) | |
2 | g.189004267G>T | CA349844433 | COL3A1 | c.2735G>T (p.Gly912Val) c.2834G>T (p.Gly945Val) c.2527+1231G>T (n.2527+1231G>T) | |
2 | g.189004268C>A | CA430312191 | COL3A1 | c.2736C>A (p.Gly912=) c.2835C>A (p.Gly945=) c.2527+1232C>A (n.2527+1232C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004268C= | CA1315403153 | COL3A1 | c.2736C= (p.Gly912=) c.2835C= (p.Gly945=) c.2527+1232C= (n.2527+1232C=) | |
2 | g.189004268C>G | CA430312192 | COL3A1 | c.2736C>G (p.Gly912=) c.2835C>G (p.Gly945=) c.2527+1232C>G (n.2527+1232C>G) | |
2 | g.189004268C>T | CA430312193 | COL3A1 | c.2736C>T (p.Gly912=) c.2835C>T (p.Gly945=) c.2527+1232C>T (n.2527+1232C>T) | ClinVar |
2 | g.189004269C>A | CA349844436 | COL3A1 | c.2737C>A (p.Pro913Thr) c.2836C>A (p.Pro946Thr) c.2527+1233C>A (n.2527+1233C>A) | gnomAD v4 |
2 | g.189004269C= | CA1315403154 | COL3A1 | c.2737C= (p.Pro913=) c.2836C= (p.Pro946=) c.2527+1233C= (n.2527+1233C=) | |
2 | g.189004269C>G | CA349844439 | COL3A1 | c.2737C>G (p.Pro913Ala) c.2836C>G (p.Pro946Ala) c.2527+1233C>G (n.2527+1233C>G) | |
2 | g.189004269C>T | CA349844441 | COL3A1 | c.2737C>T (p.Pro913Ser) c.2836C>T (p.Pro946Ser) c.2527+1233C>T (n.2527+1233C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004270C>A | CA349844444 | COL3A1 | c.2738C>A (p.Pro913Gln) c.2837C>A (p.Pro946Gln) c.2527+1234C>A (n.2527+1234C>A) | gnomAD v4 |
2 | g.189004270C= | CA1315403155 | COL3A1 | c.2738C= (p.Pro913=) c.2837C= (p.Pro946=) c.2527+1234C= (n.2527+1234C=) | |
2 | g.189004270C>G | CA349844446 | COL3A1 | c.2738C>G (p.Pro913Arg) c.2837C>G (p.Pro946Arg) c.2527+1234C>G (n.2527+1234C>G) | gnomAD v4 |
2 | g.189004270C>T | CA349844447 | COL3A1 | c.2738C>T (p.Pro913Leu) c.2837C>T (p.Pro946Leu) c.2527+1234C>T (n.2527+1234C>T) | dbSNP |
2 | g.189004271_189004272del | CA2662310095 | COL3A1 | c.2739_2740del (p.Leu914TrpfsTer21) c.2838_2839del (p.Leu947TrpfsTer21) c.2527+1235_2527+1236del (n.2527+1235_2527+1236del) | gnomAD v4 |
2 | g.189004271A= | CA1315403156 | COL3A1 | c.2739A= (p.Pro913=) c.2838A= (p.Pro946=) c.2527+1235A= (n.2527+1235A=) | |
2 | g.189004271A>C | CA430312194 | COL3A1 | c.2739A>C (p.Pro913=) c.2838A>C (p.Pro946=) c.2527+1235A>C (n.2527+1235A>C) | |
2 | g.189004271A>G | CA430312195 | COL3A1 | c.2739A>G (p.Pro913=) c.2838A>G (p.Pro946=) c.2527+1235A>G (n.2527+1235A>G) | |
2 | g.189004271A>T | CA430312196 | COL3A1 | c.2739A>T (p.Pro913=) c.2838A>T (p.Pro946=) c.2527+1235A>T (n.2527+1235A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.189004272C>A | CA349844449 | COL3A1 | c.2740C>A (p.Leu914Ile) c.2839C>A (p.Leu947Ile) c.2527+1236C>A (n.2527+1236C>A) | |
2 | g.189004272C= | CA1315403157 | COL3A1 | c.2740C= (p.Leu914=) c.2839C= (p.Leu947=) c.2527+1236C= (n.2527+1236C=) | |
2 | g.189004272C>G | CA349844451 | COL3A1 | c.2740C>G (p.Leu914Val) c.2839C>G (p.Leu947Val) c.2527+1236C>G (n.2527+1236C>G) | |
2 | g.189004272C>T | CA16610554 | COL3A1 | c.2740C>T (p.Leu914Phe) c.2839C>T (p.Leu947Phe) c.2527+1236C>T (n.2527+1236C>T) | ClinVar dbSNP |
2 | g.189004273T>A | CA349844454 | COL3A1 | c.2741T>A (p.Leu914His) c.2840T>A (p.Leu947His) c.2527+1237T>A (n.2527+1237T>A) | gnomAD v4 |
2 | g.189004273T>C | CA349844458 | COL3A1 | c.2741T>C (p.Leu914Pro) c.2840T>C (p.Leu947Pro) c.2527+1237T>C (n.2527+1237T>C) | |
2 | g.189004273T>G | CA349844457 | COL3A1 | c.2741T>G (p.Leu914Arg) c.2840T>G (p.Leu947Arg) c.2527+1237T>G (n.2527+1237T>G) | |
2 | g.189004274del | CA2662310096 | COL3A1 | c.2742del (p.Ile916LeufsTer?) c.2841del (p.Ile949LeufsTer?) c.2527+1238del (n.2527+1238del) | gnomAD v4 |
2 | g.189004274T>A | CA430312197 | COL3A1 | c.2742T>A (p.Leu914=) c.2841T>A (p.Leu947=) c.2527+1238T>A (n.2527+1238T>A) | |
2 | g.189004274T>C | CA430312198 | COL3A1 | c.2742T>C (p.Leu914=) c.2841T>C (p.Leu947=) c.2527+1238T>C (n.2527+1238T>C) | ClinVar dbSNP |
2 | g.189004274T>G | CA430312199 | COL3A1 | c.2742T>G (p.Leu914=) c.2841T>G (p.Leu947=) c.2527+1238T>G (n.2527+1238T>G) | |
2 | g.189004274T= | CA1315403158 | COL3A1 | c.2742T= (p.Leu914=) c.2841T= (p.Leu947=) c.2527+1238T= (n.2527+1238T=) | |
2 | g.189004275G>A | CA005748 | COL3A1 | c.2743G>A (p.Gly915Arg) c.2842G>A (p.Gly948Arg) c.2527+1239G>A (n.2527+1239G>A) | ClinVar dbSNP |
2 | g.189004275G>C | CA349844464 | COL3A1 | c.2743G>C (p.Gly915Arg) c.2842G>C (p.Gly948Arg) c.2527+1239G>C (n.2527+1239G>C) | |
2 | g.189004275G= | CA1315403159 | COL3A1 | c.2743G= (p.Gly915=) c.2842G= (p.Gly948=) c.2527+1239G= (n.2527+1239G=) | |
2 | g.189004275G>T | CA349844462 | COL3A1 | c.2743G>T (p.Gly915Trp) c.2842G>T (p.Gly948Trp) c.2527+1239G>T (n.2527+1239G>T) | gnomAD v4 |
2 | g.189004276G>A | CA10581907 | COL3A1 | c.2744G>A (p.Gly915Glu) c.2843G>A (p.Gly948Glu) c.2527+1240G>A (n.2527+1240G>A) | ClinVar dbSNP |
2 | g.189004276G>C | CA349844468 | COL3A1 | c.2744G>C (p.Gly915Ala) c.2843G>C (p.Gly948Ala) c.2527+1240G>C (n.2527+1240G>C) | |
2 | g.189004276G= | CA1315403160 | COL3A1 | c.2744G= (p.Gly915=) c.2843G= (p.Gly948=) c.2527+1240G= (n.2527+1240G=) | |
2 | g.189004276G>T | CA349844470 | COL3A1 | c.2744G>T (p.Gly915Val) c.2843G>T (p.Gly948Val) c.2527+1240G>T (n.2527+1240G>T) | gnomAD v4 COSMIC |
2 | g.189004277G>A | CA430312200 | COL3A1 | c.2745G>A (p.Gly915=) c.2844G>A (p.Gly948=) c.2527+1241G>A (n.2527+1241G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.189004277G>C | CA430312201 | COL3A1 | c.2745G>C (p.Gly915=) c.2844G>C (p.Gly948=) c.2527+1241G>C (n.2527+1241G>C) | |
2 | g.189004277G= | CA1315403161 | COL3A1 | c.2745G= (p.Gly915=) c.2844G= (p.Gly948=) c.2527+1241G= (n.2527+1241G=) | |
2 | g.189004277G>T | CA430312202 | COL3A1 | c.2745G>T (p.Gly915=) c.2844G>T (p.Gly948=) c.2527+1241G>T (n.2527+1241G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.189004278A>C | CA349844473 | COL3A1 | c.2746A>C (p.Ile916Leu) c.2845A>C (p.Ile949Leu) c.2527+1242A>C (n.2527+1242A>C) | |
2 | g.189004278A>G | CA349844475 | COL3A1 | c.2746A>G (p.Ile916Val) c.2845A>G (p.Ile949Val) c.2527+1242A>G (n.2527+1242A>G) | |
2 | g.189004278A>T | CA349844476 | COL3A1 | c.2746A>T (p.Ile916Phe) c.2845A>T (p.Ile949Phe) c.2527+1242A>T (n.2527+1242A>T) | |
2 | g.189004279T>A | CA349844480 | COL3A1 | c.2747T>A (p.Ile916Asn) c.2846T>A (p.Ile949Asn) c.2527+1243T>A (n.2527+1243T>A) | gnomAD v4 |
2 | g.189004279T>C | CA349844482 | COL3A1 | c.2747T>C (p.Ile916Thr) c.2846T>C (p.Ile949Thr) c.2527+1243T>C (n.2527+1243T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004279T>G | CA349844484 | COL3A1 | c.2747T>G (p.Ile916Ser) c.2846T>G (p.Ile949Ser) c.2527+1243T>G (n.2527+1243T>G) | |
2 | g.189004279T= | CA1315403162 | COL3A1 | c.2747T= (p.Ile916=) c.2846T= (p.Ile949=) c.2527+1243T= (n.2527+1243T=) | |
2 | g.189004280T>A | CA430312203 | COL3A1 | c.2748T>A (p.Ile916=) c.2847T>A (p.Ile949=) c.2527+1244T>A (n.2527+1244T>A) | |
2 | g.189004280T>C | CA430312204 | COL3A1 | c.2748T>C (p.Ile916=) c.2847T>C (p.Ile949=) c.2527+1244T>C (n.2527+1244T>C) | |
2 | g.189004280T>G | CA349844487 | COL3A1 | c.2748T>G (p.Ile916Met) c.2847T>G (p.Ile949Met) c.2527+1244T>G (n.2527+1244T>G) | |
2 | g.189004281G>A | CA349844490 | COL3A1 | c.2749G>A (p.Ala917Thr) c.2848G>A (p.Ala950Thr) c.2527+1245G>A (n.2527+1245G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189004281G>C | CA349844491 | COL3A1 | c.2749G>C (p.Ala917Pro) c.2848G>C (p.Ala950Pro) c.2527+1245G>C (n.2527+1245G>C) | gnomAD v4 |
2 | g.189004281G= | CA1315403163 | COL3A1 | c.2749G= (p.Ala917=) c.2848G= (p.Ala950=) c.2527+1245G= (n.2527+1245G=) | |
2 | g.189004281G>T | CA349844494 | COL3A1 | c.2749G>T (p.Ala917Ser) c.2848G>T (p.Ala950Ser) c.2527+1245G>T (n.2527+1245G>T) | |
2 | g.189004282C>A | CA349844496 | COL3A1 | c.2750C>A (p.Ala917Asp) c.2849C>A (p.Ala950Asp) c.2527+1246C>A (n.2527+1246C>A) | gnomAD v4 |
2 | g.189004282C>G | CA349844500 | COL3A1 | c.2750C>G (p.Ala917Gly) c.2849C>G (p.Ala950Gly) c.2527+1246C>G (n.2527+1246C>G) | |
2 | g.189004282C>T | CA349844498 | COL3A1 | c.2750C>T (p.Ala917Val) c.2849C>T (p.Ala950Val) c.2527+1246C>T (n.2527+1246C>T) | COSMIC |
2 | g.189004283T>A | CA430312207 | COL3A1 | c.2751T>A (p.Ala917=) c.2850T>A (p.Ala950=) c.2527+1247T>A (n.2527+1247T>A) | |
2 | g.189004283T>C | CA430312205 | COL3A1 | c.2751T>C (p.Ala917=) c.2850T>C (p.Ala950=) c.2527+1247T>C (n.2527+1247T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004283T>G | CA430312206 | COL3A1 | c.2751T>G (p.Ala917=) c.2850T>G (p.Ala950=) c.2527+1247T>G (n.2527+1247T>G) | |
2 | g.189004283T= | CA1315403164 | COL3A1 | c.2751T= (p.Ala917=) c.2850T= (p.Ala950=) c.2527+1247T= (n.2527+1247T=) | |
2 | g.189004284G>A | CA349844504 | COL3A1 | c.2752G>A (p.Gly918Arg) c.2851G>A (p.Gly951Arg) c.2527+1248G>A (n.2527+1248G>A) | gnomAD v4 |
2 | g.189004284G>C | CA349844505 | COL3A1 | c.2752G>C (p.Gly918Arg) c.2851G>C (p.Gly951Arg) c.2527+1248G>C (n.2527+1248G>C) | |
2 | g.189004284G>T | CA349844506 | COL3A1 | c.2752G>T (p.Gly918Trp) c.2851G>T (p.Gly951Trp) c.2527+1248G>T (n.2527+1248G>T) | gnomAD v4 |
2 | g.189004285G>A | CA349844508 | COL3A1 | c.2753G>A (p.Gly918Glu) c.2852G>A (p.Gly951Glu) c.2527+1249G>A (n.2527+1249G>A) | gnomAD v4 |
2 | g.189004285G>C | CA349844510 | COL3A1 | c.2753G>C (p.Gly918Ala) c.2852G>C (p.Gly951Ala) c.2527+1249G>C (n.2527+1249G>C) | |
2 | g.189004285G>T | CA349844511 | COL3A1 | c.2753G>T (p.Gly918Val) c.2852G>T (p.Gly951Val) c.2527+1249G>T (n.2527+1249G>T) | |
2 | g.189004286G>A | CA430312208 | COL3A1 | c.2754G>A (p.Gly918=) c.2853G>A (p.Gly951=) c.2527+1250G>A (n.2527+1250G>A) | ClinVar COSMIC |
2 | g.189004286G>C | CA430312209 | COL3A1 | c.2754G>C (p.Gly918=) c.2853G>C (p.Gly951=) c.2527+1250G>C (n.2527+1250G>C) | |
2 | g.189004286G= | CA1315403165 | COL3A1 | c.2754G= (p.Gly918=) c.2853G= (p.Gly951=) c.2527+1250G= (n.2527+1250G=) | |
2 | g.189004286G>T | CA430312210 | COL3A1 | c.2754G>T (p.Gly918=) c.2853G>T (p.Gly951=) c.2527+1250G>T (n.2527+1250G>T) | dbSNP gnomAD v4 |
2 | g.189004287A= | CA1315403166 | COL3A1 | c.2755A= (p.Ile919=) c.2854A= (p.Ile952=) c.2527+1251A= (n.2527+1251A=) | |
2 | g.189004287A>C | CA349844515 | COL3A1 | c.2755A>C (p.Ile919Leu) c.2854A>C (p.Ile952Leu) c.2527+1251A>C (n.2527+1251A>C) | |
2 | g.189004287A>G | CA349844517 | COL3A1 | c.2755A>G (p.Ile919Val) c.2854A>G (p.Ile952Val) c.2527+1251A>G (n.2527+1251A>G) | dbSNP gnomAD v4 |
2 | g.189004287A>T | CA349844518 | COL3A1 | c.2755A>T (p.Ile919Phe) c.2854A>T (p.Ile952Phe) c.2527+1251A>T (n.2527+1251A>T) | gnomAD v4 |
2 | g.189004288T>A | CA349844521 | COL3A1 | c.2756T>A (p.Ile919Asn) c.2855T>A (p.Ile952Asn) c.2527+1252T>A (n.2527+1252T>A) | |
2 | g.189004288T>C | CA349844520 | COL3A1 | c.2756T>C (p.Ile919Thr) c.2855T>C (p.Ile952Thr) c.2527+1252T>C (n.2527+1252T>C) | |
2 | g.189004288T>G | CA349844519 | COL3A1 | c.2756T>G (p.Ile919Ser) c.2855T>G (p.Ile952Ser) c.2527+1252T>G (n.2527+1252T>G) | |
2 | g.189004289C>A | CA430312211 | COL3A1 | c.2757C>A (p.Ile919=) c.2856C>A (p.Ile952=) c.2527+1253C>A (n.2527+1253C>A) | |
2 | g.189004289C= | CA1315403167 | COL3A1 | c.2757C= (p.Ile919=) c.2856C= (p.Ile952=) c.2527+1253C= (n.2527+1253C=) | |
2 | g.189004289C>G | CA349844522 | COL3A1 | c.2757C>G (p.Ile919Met) c.2856C>G (p.Ile952Met) c.2527+1253C>G (n.2527+1253C>G) | |
2 | g.189004289C>T | CA430312212 | COL3A1 | c.2757C>T (p.Ile919=) c.2856C>T (p.Ile952=) c.2527+1253C>T (n.2527+1253C>T) | dbSNP gnomAD v4 |
2 | g.189004290A>C | CA349844523 | COL3A1 | c.2758A>C (p.Thr920Pro) c.2857A>C (p.Thr953Pro) c.2527+1254A>C (n.2527+1254A>C) | gnomAD v4 |
2 | g.189004290A>G | CA349844524 | COL3A1 | c.2758A>G (p.Thr920Ala) c.2857A>G (p.Thr953Ala) c.2527+1254A>G (n.2527+1254A>G) | gnomAD v4 |
2 | g.189004290A>T | CA349844525 | COL3A1 | c.2758A>T (p.Thr920Ser) c.2857A>T (p.Thr953Ser) c.2527+1254A>T (n.2527+1254A>T) | |
2 | g.189004291C>A | CA349844526 | COL3A1 | c.2759C>A (p.Thr920Asn) c.2858C>A (p.Thr953Asn) c.2527+1255C>A (n.2527+1255C>A) | gnomAD v4 |
2 | g.189004291C>G | CA349844527 | COL3A1 | c.2759C>G (p.Thr920Ser) c.2858C>G (p.Thr953Ser) c.2527+1255C>G (n.2527+1255C>G) | gnomAD v4 |
2 | g.189004291C>T | CA349844528 | COL3A1 | c.2759C>T (p.Thr920Ile) c.2858C>T (p.Thr953Ile) c.2527+1255C>T (n.2527+1255C>T) | |
2 | g.189004292T>A | CA430312213 | COL3A1 | c.2760T>A (p.Thr920=) c.2859T>A (p.Thr953=) c.2527+1256T>A (n.2527+1256T>A) | dbSNP |
2 | g.189004292T>C | CA430312214 | COL3A1 | c.2760T>C (p.Thr920=) c.2859T>C (p.Thr953=) c.2527+1256T>C (n.2527+1256T>C) | |
2 | g.189004292T>G | CA430312215 | COL3A1 | c.2760T>G (p.Thr920=) c.2859T>G (p.Thr953=) c.2527+1256T>G (n.2527+1256T>G) | gnomAD v4 |
2 | g.189004292T= | CA1315403168 | COL3A1 | c.2760T= (p.Thr920=) c.2859T= (p.Thr953=) c.2527+1256T= (n.2527+1256T=) | |
2 | g.189004293G>A | CA005755 | COL3A1 | c.2761G>A (p.Gly921Arg) c.2860G>A (p.Gly954Arg) c.2527+1257G>A (n.2527+1257G>A) | ClinVar dbSNP |
2 | g.189004293G>C | CA349844529 | COL3A1 | c.2761G>C (p.Gly921Arg) c.2860G>C (p.Gly954Arg) c.2527+1257G>C (n.2527+1257G>C) | |
2 | g.189004293G= | CA1315403169 | COL3A1 | c.2761G= (p.Gly921=) c.2860G= (p.Gly954=) c.2527+1257G= (n.2527+1257G=) | |
2 | g.189004293G>T | CA349844530 | COL3A1 | c.2761G>T (p.Gly921Ter) c.2860G>T (p.Gly954Ter) c.2527+1257G>T (n.2527+1257G>T) | |
2 | g.189004294G>A | CA005762 | COL3A1 | c.2762G>A (p.Gly921Glu) c.2861G>A (p.Gly954Glu) c.2527+1258G>A (n.2527+1258G>A) | ClinVar dbSNP |
2 | g.189004294G>C | CA349844531 | COL3A1 | c.2762G>C (p.Gly921Ala) c.2861G>C (p.Gly954Ala) c.2527+1258G>C (n.2527+1258G>C) | |
2 | g.189004294G= | CA1315403170 | COL3A1 | c.2762G= (p.Gly921=) c.2861G= (p.Gly954=) c.2527+1258G= (n.2527+1258G=) | |
2 | g.189004294G>T | CA349844532 | COL3A1 | c.2762G>T (p.Gly921Val) c.2861G>T (p.Gly954Val) c.2527+1258G>T (n.2527+1258G>T) | gnomAD v4 |
2 | g.189004295A= | CA1315403171 | COL3A1 | c.2763A= (p.Gly921=) c.2862A= (p.Gly954=) c.2527+1259A= (n.2527+1259A=) | |
2 | g.189004295A>C | CA430312216 | COL3A1 | c.2763A>C (p.Gly921=) c.2862A>C (p.Gly954=) c.2527+1259A>C (n.2527+1259A>C) | |
2 | g.189004295A>G | CA430312217 | COL3A1 | c.2763A>G (p.Gly921=) c.2862A>G (p.Gly954=) c.2527+1259A>G (n.2527+1259A>G) | |
2 | g.189004295A>T | CA430312218 | COL3A1 | c.2763A>T (p.Gly921=) c.2862A>T (p.Gly954=) c.2527+1259A>T (n.2527+1259A>T) | ClinVar dbSNP gnomAD v2 |
2 | g.189004296G>A | CA349844533 | COL3A1 | c.2764G>A (p.Ala922Thr) c.2863G>A (p.Ala955Thr) c.2527+1260G>A (n.2527+1260G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189004296G>C | CA349844535 | COL3A1 | c.2764G>C (p.Ala922Pro) c.2863G>C (p.Ala955Pro) c.2527+1260G>C (n.2527+1260G>C) | |
2 | g.189004296G= | CA1315403172 | COL3A1 | c.2764G= (p.Ala922=) c.2863G= (p.Ala955=) c.2527+1260G= (n.2527+1260G=) | |
2 | g.189004296G>T | CA349844534 | COL3A1 | c.2764G>T (p.Ala922Ser) c.2863G>T (p.Ala955Ser) c.2527+1260G>T (n.2527+1260G>T) | |
2 | g.189004297C>A | CA349844536 | COL3A1 | c.2765C>A (p.Ala922Glu) c.2864C>A (p.Ala955Glu) c.2527+1261C>A (n.2527+1261C>A) | |
2 | g.189004297C>G | CA349844537 | COL3A1 | c.2765C>G (p.Ala922Gly) c.2864C>G (p.Ala955Gly) c.2527+1261C>G (n.2527+1261C>G) | |
2 | g.189004297C>T | CA349844538 | COL3A1 | c.2765C>T (p.Ala922Val) c.2864C>T (p.Ala955Val) c.2527+1261C>T (n.2527+1261C>T) | gnomAD v3 gnomAD v4 |
2 | g.189004298A= | CA1315403173 | COL3A1 | c.2766A= (p.Ala922=) c.2865A= (p.Ala955=) c.2527+1262A= (n.2527+1262A=) | |
2 | g.189004298A>C | CA430312219 | COL3A1 | c.2766A>C (p.Ala922=) c.2865A>C (p.Ala955=) c.2527+1262A>C (n.2527+1262A>C) | |
2 | g.189004298A>G | CA430312220 | COL3A1 | c.2766A>G (p.Ala922=) c.2865A>G (p.Ala955=) c.2527+1262A>G (n.2527+1262A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189004298A>T | CA430312221 | COL3A1 | c.2766A>T (p.Ala922=) c.2865A>T (p.Ala955=) c.2527+1262A>T (n.2527+1262A>T) | |
2 | g.189004299C>A | CA430312222 | COL3A1 | c.2767C>A (p.Arg923=) c.2866C>A (p.Arg956=) c.2527+1263C>A (n.2527+1263C>A) | |
2 | g.189004299C= | CA1315403174 | COL3A1 | c.2767C= (p.Arg923=) c.2866C= (p.Arg956=) c.2527+1263C= (n.2527+1263C=) | |
2 | g.189004299C>G | CA349844539 | COL3A1 | c.2767C>G (p.Arg923Gly) c.2866C>G (p.Arg956Gly) c.2527+1263C>G (n.2527+1263C>G) | |
2 | g.189004299C>T | CA62557533 | COL3A1 | c.2767C>T (p.Arg923Trp) c.2866C>T (p.Arg956Trp) c.2527+1263C>T (n.2527+1263C>T) | dbSNP gnomAD v4 |