Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189000730_189007456delCA913190215COL3A1c.2185-667_3157-44del
c.2284-667_3256-44del
c.2284-667_2528-598del
 ClinVar
2g.189001289_189008107delCA913190216COL3A1c.2185-108_3391del
c.2284-108_3490del
c.2284-108_2581del
 ClinVar
2g.189001505_189006012delCA913189729COL3A1c.2239-31_2941-194del
c.2338-31_3040-194del
c.2338-31_2528-2042del
 ClinVar
2g.189004145_189004257delCA2753571887COL3A1c.2724+2_2725del
c.2823+2_2824del
c.2527+1109_2527+1221del (n.2527+1109_2527+1221del)
2g.189004197A=CA1315403107COL3A1c.2724+54A= (n.2724+54A=)
c.2823+54A= (n.2823+54A=)
c.2527+1161A= (n.2527+1161A=)
2g.189004197A>GCA1040411576COL3A1c.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
2g.189004197_189004198delinsATCA1315403106COL3A1c.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)
2g.189004198delCA538448889COL3A1c.2724+55del (n.2724+55del)
c.2823+55del (n.2823+55del)
c.2527+1162del (n.2527+1162del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189004198T>ACA2577185821COL3A1c.2724+55T>A (n.2724+55T>A)
c.2823+55T>A (n.2823+55T>A)
c.2527+1162T>A (n.2527+1162T>A)
2g.189004198T>CCA2662310076COL3A1c.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
2g.189004199C>ACA762204453COL3A1c.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
2g.189004199C=CA1315403108COL3A1c.2724+56C= (n.2724+56C=)
c.2823+56C= (n.2823+56C=)
c.2527+1163C= (n.2527+1163C=)
2g.189004199C>TCA62557508COL3A1c.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
2g.189004200G>ACA762204456COL3A1c.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
2g.189004200G=CA1315403109COL3A1c.2725-57G= (n.2725-57G=)
c.2824-57G= (n.2824-57G=)
c.2527+1164G= (n.2527+1164G=)
2g.189004200G>TCA2662310077COL3A1c.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
2g.189004201A>GCA2662310078COL3A1c.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
2g.189004201A>TCA2662310079COL3A1c.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
2g.189004202T>CCA2662310080COL3A1c.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
2g.189004202T>GCA2662310081COL3A1c.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
2g.189004204A>GCA2662310082COL3A1c.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
2g.189004205G>ACA1315403111COL3A1c.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
2g.189004205G=CA1315403110COL3A1c.2725-52G= (n.2725-52G=)
c.2824-52G= (n.2824-52G=)
c.2527+1169G= (n.2527+1169G=)
2g.189004206A=CA1315403112COL3A1c.2725-51A= (n.2725-51A=)
c.2824-51A= (n.2824-51A=)
c.2527+1170A= (n.2527+1170A=)
2g.189004206A>GCA075651COL3A1c.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
2g.189004208A=CA1315403114COL3A1c.2725-49A= (n.2725-49A=)
c.2824-49A= (n.2824-49A=)
c.2527+1172A= (n.2527+1172A=)
2g.189004208A>GCA1315403113COL3A1c.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
2g.189004211_189004212dupCA2662310083COL3A1c.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
2g.189004210A=CA1315403115COL3A1c.2725-47A= (n.2725-47A=)
c.2824-47A= (n.2824-47A=)
c.2527+1174A= (n.2527+1174A=)
2g.189004210A>GCA075645COL3A1c.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
2g.189004212A=CA1315403116COL3A1c.2725-45A= (n.2725-45A=)
c.2824-45A= (n.2824-45A=)
c.2527+1176A= (n.2527+1176A=)
2g.189004212A>CCA538448890COL3A1c.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
2g.189004212A>GCA2662310084COL3A1c.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
2g.189004213C=CA1315403117COL3A1c.2725-44C= (n.2725-44C=)
c.2824-44C= (n.2824-44C=)
c.2527+1177C= (n.2527+1177C=)
2g.189004213C>TCA1315403118COL3A1c.2725-44C>T (n.2725-44C>T)
c.2824-44C>T (n.2824-44C>T)
c.2527+1177C>T (n.2527+1177C>T)
 dbSNP
2g.189004214A>GCA2577185822COL3A1c.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
2g.189004215C>ACA2662310085COL3A1c.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
2g.189004215C=CA1315403119COL3A1c.2725-42C= (n.2725-42C=)
c.2824-42C= (n.2824-42C=)
c.2527+1179C= (n.2527+1179C=)
2g.189004215C>GCA2662310086COL3A1c.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
2g.189004215C>TCA075642COL3A1c.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
2g.189004217G>ACA075637COL3A1c.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
2g.189004217G=CA1315403120COL3A1c.2725-40G= (n.2725-40G=)
c.2824-40G= (n.2824-40G=)
c.2527+1181G= (n.2527+1181G=)
2g.189004218T>ACA2662310087COL3A1c.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
2g.189004218T>CCA762204463COL3A1c.2725-39T>C (n.2725-39T>C)
c.2824-39T>C (n.2824-39T>C)
c.2527+1182T>C (n.2527+1182T>C)
 dbSNP
2g.189004218T=CA1315403121COL3A1c.2725-39T= (n.2725-39T=)
c.2824-39T= (n.2824-39T=)
c.2527+1182T= (n.2527+1182T=)
2g.189004219C=CA1315403122COL3A1c.2725-38C= (n.2725-38C=)
c.2824-38C= (n.2824-38C=)
c.2527+1183C= (n.2527+1183C=)
2g.189004219C>TCA538448891COL3A1c.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
2g.189004221C=CA1315403123COL3A1c.2725-36C= (n.2725-36C=)
c.2824-36C= (n.2824-36C=)
c.2527+1185C= (n.2527+1185C=)
2g.189004221C>TCA075634COL3A1c.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
2g.189004222A=CA1315403124COL3A1c.2725-35A= (n.2725-35A=)
c.2824-35A= (n.2824-35A=)
c.2527+1186A= (n.2527+1186A=)
2g.189004222A>GCA538448892COL3A1c.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
2g.189004223T>ACA2662310088COL3A1c.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
2g.189004223T>CCA2753571890COL3A1c.2725-34T>C (n.2725-34T>C)
c.2824-34T>C (n.2824-34T>C)
c.2527+1187T>C (n.2527+1187T>C)
2g.189004223T>GCA075631COL3A1c.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
2g.189004223T=CA1315403125COL3A1c.2725-34T= (n.2725-34T=)
c.2824-34T= (n.2824-34T=)
c.2527+1187T= (n.2527+1187T=)
2g.189004223dupCA2662310089COL3A1c.2725-34dup (n.2725-34dup)
c.2824-34dup (n.2824-34dup)
c.2527+1187dup (n.2527+1187dup)
 gnomAD v4
2g.189004224A=CA1315403126COL3A1c.2725-33A= (n.2725-33A=)
c.2824-33A= (n.2824-33A=)
c.2527+1188A= (n.2527+1188A=)
2g.189004224A>GCA538448893COL3A1c.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
2g.189004225A=CA1315403127COL3A1c.2725-32A= (n.2725-32A=)
c.2824-32A= (n.2824-32A=)
c.2527+1189A= (n.2527+1189A=)
2g.189004225A>GCA762204484COL3A1c.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
2g.189004229T>GCA2753571891COL3A1c.2725-28T>G (n.2725-28T>G)
c.2824-28T>G (n.2824-28T>G)
c.2527+1193T>G (n.2527+1193T>G)
2g.189004230G>ACA2662310090COL3A1c.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
2g.189004232G>ACA075628COL3A1c.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
2g.189004232G=CA1315403128COL3A1c.2725-25G= (n.2725-25G=)
c.2824-25G= (n.2824-25G=)
c.2527+1196G= (n.2527+1196G=)
2g.189004233C=CA1315403129COL3A1c.2725-24C= (n.2725-24C=)
c.2824-24C= (n.2824-24C=)
c.2527+1197C= (n.2527+1197C=)
2g.189004233C>TCA62557521COL3A1c.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
2g.189004234T>GCA1315403131COL3A1c.2725-23T>G (n.2725-23T>G)
c.2824-23T>G (n.2824-23T>G)
c.2527+1198T>G (n.2527+1198T>G)
 dbSNP
2g.189004234T=CA1315403130COL3A1c.2725-23T= (n.2725-23T=)
c.2824-23T= (n.2824-23T=)
c.2527+1198T= (n.2527+1198T=)
2g.189004235A>GCA2753571892COL3A1c.2725-22A>G (n.2725-22A>G)
c.2824-22A>G (n.2824-22A>G)
c.2527+1199A>G (n.2527+1199A>G)
2g.189004236A=CA1315403132COL3A1c.2725-21A= (n.2725-21A=)
c.2824-21A= (n.2824-21A=)
c.2527+1200A= (n.2527+1200A=)
2g.189004236A>GCA762204487COL3A1c.2725-21A>G (n.2725-21A>G)
c.2824-21A>G (n.2824-21A>G)
c.2527+1200A>G (n.2527+1200A>G)
 dbSNP
2g.189004238T>ACA075625COL3A1c.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
2g.189004238T=CA1315403133COL3A1c.2725-19T= (n.2725-19T=)
c.2824-19T= (n.2824-19T=)
c.2527+1202T= (n.2527+1202T=)
2g.189004239C=CA1315403134COL3A1c.2725-18C= (n.2725-18C=)
c.2824-18C= (n.2824-18C=)
c.2527+1203C= (n.2527+1203C=)
2g.189004239C>GCA1315403135COL3A1c.2725-18C>G (n.2725-18C>G)
c.2824-18C>G (n.2824-18C>G)
c.2527+1203C>G (n.2527+1203C>G)
 dbSNP
2g.189004240T>CCA2662310091COL3A1c.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
2g.189004242C>TCA2662310092COL3A1c.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
2g.189004243A=CA1315403136COL3A1c.2725-14A= (n.2725-14A=)
c.2824-14A= (n.2824-14A=)
c.2527+1207A= (n.2527+1207A=)
2g.189004243A>GCA1315403137COL3A1c.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
2g.189004245T>ACA2662310093COL3A1c.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
2g.189004245T>CCA538448894COL3A1c.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
2g.189004245T=CA1315403138COL3A1c.2725-12T= (n.2725-12T=)
c.2824-12T= (n.2824-12T=)
c.2527+1209T= (n.2527+1209T=)
2g.189004246A>GCA2662310094COL3A1c.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
2g.189004247T>ACA2573051819COL3A1c.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
2g.189004247T>GCA2753571893COL3A1c.2725-10T>G (n.2725-10T>G)
c.2824-10T>G (n.2824-10T>G)
c.2527+1211T>G (n.2527+1211T>G)
2g.189004248C=CA1315403139COL3A1c.2725-9C= (n.2725-9C=)
c.2824-9C= (n.2824-9C=)
c.2527+1212C= (n.2527+1212C=)
2g.189004248C>TCA658821162COL3A1c.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
2g.189004249T>CCA762204491COL3A1c.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
2g.189004249T=CA1315403140COL3A1c.2725-8T= (n.2725-8T=)
c.2824-8T= (n.2824-8T=)
c.2527+1213T= (n.2527+1213T=)
2g.189004250G>ACA913187998COL3A1c.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
2g.189004250G=CA1315403141COL3A1c.2725-7G= (n.2725-7G=)
c.2824-7G= (n.2824-7G=)
c.2527+1214G= (n.2527+1214G=)
2g.189004251T>CCA62557522COL3A1c.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
2g.189004251T=CA1315403142COL3A1c.2725-6T= (n.2725-6T=)
c.2824-6T= (n.2824-6T=)
c.2527+1215T= (n.2527+1215T=)
2g.189004251_189004252insCCA538448895COL3A1c.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
2g.189004252A=CA1315403143COL3A1c.2725-5A= (n.2725-5A=)
c.2824-5A= (n.2824-5A=)
c.2527+1216A= (n.2527+1216A=)
2g.189004252A>GCA658796122COL3A1c.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
2g.189004252A>TCA62557523COL3A1c.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
2g.189004253T>CCA1315403145COL3A1c.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
2g.189004253T=CA1315403144COL3A1c.2725-4T= (n.2725-4T=)
c.2824-4T= (n.2824-4T=)
c.2527+1217T= (n.2527+1217T=)
2g.189004254T>CCA1315403147COL3A1c.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
2g.189004254T=CA1315403146COL3A1c.2725-3T= (n.2725-3T=)
c.2824-3T= (n.2824-3T=)
c.2527+1218T= (n.2527+1218T=)
2g.189004255A>CCA349844376COL3A1c.2725-2A>C (n.2725-2A>C)
c.2824-2A>C (n.2824-2A>C)
c.2527+1219A>C (n.2527+1219A>C)
 COSMIC
2g.189004255A>GCA349844377COL3A1c.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
2g.189004255A>TCA349844379COL3A1c.2725-2A>T (n.2725-2A>T)
c.2824-2A>T (n.2824-2A>T)
c.2527+1219A>T (n.2527+1219A>T)
2g.189004256G>ACA005719COL3A1c.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
2g.189004256G>CCA349844383COL3A1c.2725-1G>C (n.2725-1G>C)
c.2824-1G>C (n.2824-1G>C)
c.2527+1220G>C (n.2527+1220G>C)
2g.189004256G=CA1315403148COL3A1c.2725-1G= (n.2725-1G=)
c.2824-1G= (n.2824-1G=)
c.2527+1220G= (n.2527+1220G=)
2g.189004256G>TCA349844385COL3A1c.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
2g.189004257G>ACA005726COL3A1c.2725G>A (p.Gly909Arg)
c.2824G>A (p.Gly942Arg)
c.2527+1221G>A (n.2527+1221G>A)
 ClinVar dbSNP
2g.189004257G>CCA349844389COL3A1c.2725G>C (p.Gly909Arg)
c.2824G>C (p.Gly942Arg)
c.2527+1221G>C (n.2527+1221G>C)
2g.189004257G=CA1315403149COL3A1c.2725G= (p.Gly909=)
c.2824G= (p.Gly942=)
c.2527+1221G= (n.2527+1221G=)
2g.189004257G>TCA349844391COL3A1c.2725G>T (p.Gly909Ter)
c.2824G>T (p.Gly942Ter)
c.2527+1221G>T (n.2527+1221G>T)
2g.189004258G>ACA005734COL3A1c.2726G>A (p.Gly909Glu)
c.2825G>A (p.Gly942Glu)
c.2527+1222G>A (n.2527+1222G>A)
 ClinVar dbSNP COSMIC
2g.189004258G>CCA349844396COL3A1c.2726G>C (p.Gly909Ala)
c.2825G>C (p.Gly942Ala)
c.2527+1222G>C (n.2527+1222G>C)
2g.189004258G=CA1315403150COL3A1c.2726G= (p.Gly909=)
c.2825G= (p.Gly942=)
c.2527+1222G= (n.2527+1222G=)
2g.189004258G>TCA349844395COL3A1c.2726G>T (p.Gly909Val)
c.2825G>T (p.Gly942Val)
c.2527+1222G>T (n.2527+1222G>T)
2g.189004259A>CCA430312181COL3A1c.2727A>C (p.Gly909=)
c.2826A>C (p.Gly942=)
c.2527+1223A>C (n.2527+1223A>C)
2g.189004259A>GCA430312182COL3A1c.2727A>G (p.Gly909=)
c.2826A>G (p.Gly942=)
c.2527+1223A>G (n.2527+1223A>G)
2g.189004259A>TCA430312183COL3A1c.2727A>T (p.Gly909=)
c.2826A>T (p.Gly942=)
c.2527+1223A>T (n.2527+1223A>T)
2g.189004260G>ACA349844398COL3A1c.2728G>A (p.Ala910Thr)
c.2827G>A (p.Ala943Thr)
c.2527+1224G>A (n.2527+1224G>A)
2g.189004260G>CCA349844399COL3A1c.2728G>C (p.Ala910Pro)
c.2827G>C (p.Ala943Pro)
c.2527+1224G>C (n.2527+1224G>C)
 gnomAD v4
2g.189004260G>TCA349844402COL3A1c.2728G>T (p.Ala910Ser)
c.2827G>T (p.Ala943Ser)
c.2527+1224G>T (n.2527+1224G>T)
 gnomAD v4
2g.189004260_189004261delinsGCCA1315403151COL3A1c.2728_2729delinsGC (p.Ala910=)
c.2827_2828delinsGC (p.Ala943=)
c.2527+1224_2527+1225delinsGC (n.2527+1224_2527+1225delinsGC)
2g.189004261delCA658796123COL3A1c.2729del (p.Ala910ValfsTer?)
c.2828del (p.Ala943ValfsTer?)
c.2527+1225del (n.2527+1225del)
 ClinVar dbSNP
2g.189004261C>ACA349844404COL3A1c.2729C>A (p.Ala910Asp)
c.2828C>A (p.Ala943Asp)
c.2527+1225C>A (n.2527+1225C>A)
 gnomAD v4
2g.189004261C>GCA349844406COL3A1c.2729C>G (p.Ala910Gly)
c.2828C>G (p.Ala943Gly)
c.2527+1225C>G (n.2527+1225C>G)
2g.189004261C>TCA349844408COL3A1c.2729C>T (p.Ala910Val)
c.2828C>T (p.Ala943Val)
c.2527+1225C>T (n.2527+1225C>T)
2g.189004262T>ACA430312186COL3A1c.2730T>A (p.Ala910=)
c.2829T>A (p.Ala943=)
c.2527+1226T>A (n.2527+1226T>A)
2g.189004262T>CCA430312184COL3A1c.2730T>C (p.Ala910=)
c.2829T>C (p.Ala943=)
c.2527+1226T>C (n.2527+1226T>C)
2g.189004262T>GCA430312185COL3A1c.2730T>G (p.Ala910=)
c.2829T>G (p.Ala943=)
c.2527+1226T>G (n.2527+1226T>G)
2g.189004263C>ACA349844411COL3A1c.2731C>A (p.Pro911Thr)
c.2830C>A (p.Pro944Thr)
c.2527+1227C>A (n.2527+1227C>A)
 gnomAD v4
2g.189004263C>GCA349844412COL3A1c.2731C>G (p.Pro911Ala)
c.2830C>G (p.Pro944Ala)
c.2527+1227C>G (n.2527+1227C>G)
2g.189004263C>TCA349844415COL3A1c.2731C>T (p.Pro911Ser)
c.2830C>T (p.Pro944Ser)
c.2527+1227C>T (n.2527+1227C>T)
2g.189004263_189004264delinsTTCA645514671COL3A1c.2731_2732delinsTT (p.Pro911Leu)
c.2830_2831delinsTT (p.Pro944Leu)
c.2527+1227_2527+1228delinsTT (n.2527+1227_2527+1228delinsTT)
 COSMIC
2g.189004264C>ACA349844417COL3A1c.2732C>A (p.Pro911Gln)
c.2831C>A (p.Pro944Gln)
c.2527+1228C>A (n.2527+1228C>A)
2g.189004264C>GCA349844420COL3A1c.2732C>G (p.Pro911Arg)
c.2831C>G (p.Pro944Arg)
c.2527+1228C>G (n.2527+1228C>G)
2g.189004264C>TCA349844422COL3A1c.2732C>T (p.Pro911Leu)
c.2831C>T (p.Pro944Leu)
c.2527+1228C>T (n.2527+1228C>T)
2g.189004265A>CCA430312188COL3A1c.2733A>C (p.Pro911=)
c.2832A>C (p.Pro944=)
c.2527+1229A>C (n.2527+1229A>C)
2g.189004265A>GCA430312189COL3A1c.2733A>G (p.Pro911=)
c.2832A>G (p.Pro944=)
c.2527+1229A>G (n.2527+1229A>G)
 ClinVar gnomAD v4
2g.189004265A>TCA430312190COL3A1c.2733A>T (p.Pro911=)
c.2832A>T (p.Pro944=)
c.2527+1229A>T (n.2527+1229A>T)
2g.189004266G>ACA005741COL3A1c.2734G>A (p.Gly912Ser)
c.2833G>A (p.Gly945Ser)
c.2527+1230G>A (n.2527+1230G>A)
 ClinVar dbSNP
2g.189004266G>CCA349844426COL3A1c.2734G>C (p.Gly912Arg)
c.2833G>C (p.Gly945Arg)
c.2527+1230G>C (n.2527+1230G>C)
2g.189004266G=CA1315403152COL3A1c.2734G= (p.Gly912=)
c.2833G= (p.Gly945=)
c.2527+1230G= (n.2527+1230G=)
2g.189004266G>TCA349844424COL3A1c.2734G>T (p.Gly912Cys)
c.2833G>T (p.Gly945Cys)
c.2527+1230G>T (n.2527+1230G>T)
 gnomAD v4
2g.189004267G>ACA349844429COL3A1c.2735G>A (p.Gly912Asp)
c.2834G>A (p.Gly945Asp)
c.2527+1231G>A (n.2527+1231G>A)
2g.189004267G>CCA349844431COL3A1c.2735G>C (p.Gly912Ala)
c.2834G>C (p.Gly945Ala)
c.2527+1231G>C (n.2527+1231G>C)
2g.189004267G>TCA349844433COL3A1c.2735G>T (p.Gly912Val)
c.2834G>T (p.Gly945Val)
c.2527+1231G>T (n.2527+1231G>T)
2g.189004268C>ACA430312191COL3A1c.2736C>A (p.Gly912=)
c.2835C>A (p.Gly945=)
c.2527+1232C>A (n.2527+1232C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189004268C=CA1315403153COL3A1c.2736C= (p.Gly912=)
c.2835C= (p.Gly945=)
c.2527+1232C= (n.2527+1232C=)
2g.189004268C>GCA430312192COL3A1c.2736C>G (p.Gly912=)
c.2835C>G (p.Gly945=)
c.2527+1232C>G (n.2527+1232C>G)
2g.189004268C>TCA430312193COL3A1c.2736C>T (p.Gly912=)
c.2835C>T (p.Gly945=)
c.2527+1232C>T (n.2527+1232C>T)
 ClinVar
2g.189004269C>ACA349844436COL3A1c.2737C>A (p.Pro913Thr)
c.2836C>A (p.Pro946Thr)
c.2527+1233C>A (n.2527+1233C>A)
 gnomAD v4
2g.189004269C=CA1315403154COL3A1c.2737C= (p.Pro913=)
c.2836C= (p.Pro946=)
c.2527+1233C= (n.2527+1233C=)
2g.189004269C>GCA349844439COL3A1c.2737C>G (p.Pro913Ala)
c.2836C>G (p.Pro946Ala)
c.2527+1233C>G (n.2527+1233C>G)
2g.189004269C>TCA349844441COL3A1c.2737C>T (p.Pro913Ser)
c.2836C>T (p.Pro946Ser)
c.2527+1233C>T (n.2527+1233C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189004270C>ACA349844444COL3A1c.2738C>A (p.Pro913Gln)
c.2837C>A (p.Pro946Gln)
c.2527+1234C>A (n.2527+1234C>A)
 gnomAD v4
2g.189004270C=CA1315403155COL3A1c.2738C= (p.Pro913=)
c.2837C= (p.Pro946=)
c.2527+1234C= (n.2527+1234C=)
2g.189004270C>GCA349844446COL3A1c.2738C>G (p.Pro913Arg)
c.2837C>G (p.Pro946Arg)
c.2527+1234C>G (n.2527+1234C>G)
 gnomAD v4
2g.189004270C>TCA349844447COL3A1c.2738C>T (p.Pro913Leu)
c.2837C>T (p.Pro946Leu)
c.2527+1234C>T (n.2527+1234C>T)
 dbSNP
2g.189004271_189004272delCA2662310095COL3A1c.2739_2740del (p.Leu914TrpfsTer21)
c.2838_2839del (p.Leu947TrpfsTer21)
c.2527+1235_2527+1236del (n.2527+1235_2527+1236del)
 gnomAD v4
2g.189004271A=CA1315403156COL3A1c.2739A= (p.Pro913=)
c.2838A= (p.Pro946=)
c.2527+1235A= (n.2527+1235A=)
2g.189004271A>CCA430312194COL3A1c.2739A>C (p.Pro913=)
c.2838A>C (p.Pro946=)
c.2527+1235A>C (n.2527+1235A>C)
2g.189004271A>GCA430312195COL3A1c.2739A>G (p.Pro913=)
c.2838A>G (p.Pro946=)
c.2527+1235A>G (n.2527+1235A>G)
2g.189004271A>TCA430312196COL3A1c.2739A>T (p.Pro913=)
c.2838A>T (p.Pro946=)
c.2527+1235A>T (n.2527+1235A>T)
 ClinVar dbSNP gnomAD v4
2g.189004272C>ACA349844449COL3A1c.2740C>A (p.Leu914Ile)
c.2839C>A (p.Leu947Ile)
c.2527+1236C>A (n.2527+1236C>A)
2g.189004272C=CA1315403157COL3A1c.2740C= (p.Leu914=)
c.2839C= (p.Leu947=)
c.2527+1236C= (n.2527+1236C=)
2g.189004272C>GCA349844451COL3A1c.2740C>G (p.Leu914Val)
c.2839C>G (p.Leu947Val)
c.2527+1236C>G (n.2527+1236C>G)
2g.189004272C>TCA16610554COL3A1c.2740C>T (p.Leu914Phe)
c.2839C>T (p.Leu947Phe)
c.2527+1236C>T (n.2527+1236C>T)
 ClinVar dbSNP
2g.189004273T>ACA349844454COL3A1c.2741T>A (p.Leu914His)
c.2840T>A (p.Leu947His)
c.2527+1237T>A (n.2527+1237T>A)
 gnomAD v4
2g.189004273T>CCA349844458COL3A1c.2741T>C (p.Leu914Pro)
c.2840T>C (p.Leu947Pro)
c.2527+1237T>C (n.2527+1237T>C)
2g.189004273T>GCA349844457COL3A1c.2741T>G (p.Leu914Arg)
c.2840T>G (p.Leu947Arg)
c.2527+1237T>G (n.2527+1237T>G)
2g.189004274delCA2662310096COL3A1c.2742del (p.Ile916LeufsTer?)
c.2841del (p.Ile949LeufsTer?)
c.2527+1238del (n.2527+1238del)
 gnomAD v4
2g.189004274T>ACA430312197COL3A1c.2742T>A (p.Leu914=)
c.2841T>A (p.Leu947=)
c.2527+1238T>A (n.2527+1238T>A)
2g.189004274T>CCA430312198COL3A1c.2742T>C (p.Leu914=)
c.2841T>C (p.Leu947=)
c.2527+1238T>C (n.2527+1238T>C)
 ClinVar dbSNP
2g.189004274T>GCA430312199COL3A1c.2742T>G (p.Leu914=)
c.2841T>G (p.Leu947=)
c.2527+1238T>G (n.2527+1238T>G)
2g.189004274T=CA1315403158COL3A1c.2742T= (p.Leu914=)
c.2841T= (p.Leu947=)
c.2527+1238T= (n.2527+1238T=)
2g.189004275G>ACA005748COL3A1c.2743G>A (p.Gly915Arg)
c.2842G>A (p.Gly948Arg)
c.2527+1239G>A (n.2527+1239G>A)
 ClinVar dbSNP
2g.189004275G>CCA349844464COL3A1c.2743G>C (p.Gly915Arg)
c.2842G>C (p.Gly948Arg)
c.2527+1239G>C (n.2527+1239G>C)
2g.189004275G=CA1315403159COL3A1c.2743G= (p.Gly915=)
c.2842G= (p.Gly948=)
c.2527+1239G= (n.2527+1239G=)
2g.189004275G>TCA349844462COL3A1c.2743G>T (p.Gly915Trp)
c.2842G>T (p.Gly948Trp)
c.2527+1239G>T (n.2527+1239G>T)
 gnomAD v4
2g.189004276G>ACA10581907COL3A1c.2744G>A (p.Gly915Glu)
c.2843G>A (p.Gly948Glu)
c.2527+1240G>A (n.2527+1240G>A)
 ClinVar dbSNP
2g.189004276G>CCA349844468COL3A1c.2744G>C (p.Gly915Ala)
c.2843G>C (p.Gly948Ala)
c.2527+1240G>C (n.2527+1240G>C)
2g.189004276G=CA1315403160COL3A1c.2744G= (p.Gly915=)
c.2843G= (p.Gly948=)
c.2527+1240G= (n.2527+1240G=)
2g.189004276G>TCA349844470COL3A1c.2744G>T (p.Gly915Val)
c.2843G>T (p.Gly948Val)
c.2527+1240G>T (n.2527+1240G>T)
 gnomAD v4 COSMIC
2g.189004277G>ACA430312200COL3A1c.2745G>A (p.Gly915=)
c.2844G>A (p.Gly948=)
c.2527+1241G>A (n.2527+1241G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.189004277G>CCA430312201COL3A1c.2745G>C (p.Gly915=)
c.2844G>C (p.Gly948=)
c.2527+1241G>C (n.2527+1241G>C)
2g.189004277G=CA1315403161COL3A1c.2745G= (p.Gly915=)
c.2844G= (p.Gly948=)
c.2527+1241G= (n.2527+1241G=)
2g.189004277G>TCA430312202COL3A1c.2745G>T (p.Gly915=)
c.2844G>T (p.Gly948=)
c.2527+1241G>T (n.2527+1241G>T)
 ClinVar dbSNP gnomAD v4
2g.189004278A>CCA349844473COL3A1c.2746A>C (p.Ile916Leu)
c.2845A>C (p.Ile949Leu)
c.2527+1242A>C (n.2527+1242A>C)
2g.189004278A>GCA349844475COL3A1c.2746A>G (p.Ile916Val)
c.2845A>G (p.Ile949Val)
c.2527+1242A>G (n.2527+1242A>G)
2g.189004278A>TCA349844476COL3A1c.2746A>T (p.Ile916Phe)
c.2845A>T (p.Ile949Phe)
c.2527+1242A>T (n.2527+1242A>T)
2g.189004279T>ACA349844480COL3A1c.2747T>A (p.Ile916Asn)
c.2846T>A (p.Ile949Asn)
c.2527+1243T>A (n.2527+1243T>A)
 gnomAD v4
2g.189004279T>CCA349844482COL3A1c.2747T>C (p.Ile916Thr)
c.2846T>C (p.Ile949Thr)
c.2527+1243T>C (n.2527+1243T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189004279T>GCA349844484COL3A1c.2747T>G (p.Ile916Ser)
c.2846T>G (p.Ile949Ser)
c.2527+1243T>G (n.2527+1243T>G)
2g.189004279T=CA1315403162COL3A1c.2747T= (p.Ile916=)
c.2846T= (p.Ile949=)
c.2527+1243T= (n.2527+1243T=)
2g.189004280T>ACA430312203COL3A1c.2748T>A (p.Ile916=)
c.2847T>A (p.Ile949=)
c.2527+1244T>A (n.2527+1244T>A)
2g.189004280T>CCA430312204COL3A1c.2748T>C (p.Ile916=)
c.2847T>C (p.Ile949=)
c.2527+1244T>C (n.2527+1244T>C)
2g.189004280T>GCA349844487COL3A1c.2748T>G (p.Ile916Met)
c.2847T>G (p.Ile949Met)
c.2527+1244T>G (n.2527+1244T>G)
2g.189004281G>ACA349844490COL3A1c.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
2g.189004281G>CCA349844491COL3A1c.2749G>C (p.Ala917Pro)
c.2848G>C (p.Ala950Pro)
c.2527+1245G>C (n.2527+1245G>C)
 gnomAD v4
2g.189004281G=CA1315403163COL3A1c.2749G= (p.Ala917=)
c.2848G= (p.Ala950=)
c.2527+1245G= (n.2527+1245G=)
2g.189004281G>TCA349844494COL3A1c.2749G>T (p.Ala917Ser)
c.2848G>T (p.Ala950Ser)
c.2527+1245G>T (n.2527+1245G>T)
2g.189004282C>ACA349844496COL3A1c.2750C>A (p.Ala917Asp)
c.2849C>A (p.Ala950Asp)
c.2527+1246C>A (n.2527+1246C>A)
 gnomAD v4
2g.189004282C>GCA349844500COL3A1c.2750C>G (p.Ala917Gly)
c.2849C>G (p.Ala950Gly)
c.2527+1246C>G (n.2527+1246C>G)
2g.189004282C>TCA349844498COL3A1c.2750C>T (p.Ala917Val)
c.2849C>T (p.Ala950Val)
c.2527+1246C>T (n.2527+1246C>T)
 COSMIC
2g.189004283T>ACA430312207COL3A1c.2751T>A (p.Ala917=)
c.2850T>A (p.Ala950=)
c.2527+1247T>A (n.2527+1247T>A)
2g.189004283T>CCA430312205COL3A1c.2751T>C (p.Ala917=)
c.2850T>C (p.Ala950=)
c.2527+1247T>C (n.2527+1247T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189004283T>GCA430312206COL3A1c.2751T>G (p.Ala917=)
c.2850T>G (p.Ala950=)
c.2527+1247T>G (n.2527+1247T>G)
2g.189004283T=CA1315403164COL3A1c.2751T= (p.Ala917=)
c.2850T= (p.Ala950=)
c.2527+1247T= (n.2527+1247T=)
2g.189004284G>ACA349844504COL3A1c.2752G>A (p.Gly918Arg)
c.2851G>A (p.Gly951Arg)
c.2527+1248G>A (n.2527+1248G>A)
 gnomAD v4
2g.189004284G>CCA349844505COL3A1c.2752G>C (p.Gly918Arg)
c.2851G>C (p.Gly951Arg)
c.2527+1248G>C (n.2527+1248G>C)
2g.189004284G>TCA349844506COL3A1c.2752G>T (p.Gly918Trp)
c.2851G>T (p.Gly951Trp)
c.2527+1248G>T (n.2527+1248G>T)
 gnomAD v4
2g.189004285G>ACA349844508COL3A1c.2753G>A (p.Gly918Glu)
c.2852G>A (p.Gly951Glu)
c.2527+1249G>A (n.2527+1249G>A)
 gnomAD v4
2g.189004285G>CCA349844510COL3A1c.2753G>C (p.Gly918Ala)
c.2852G>C (p.Gly951Ala)
c.2527+1249G>C (n.2527+1249G>C)
2g.189004285G>TCA349844511COL3A1c.2753G>T (p.Gly918Val)
c.2852G>T (p.Gly951Val)
c.2527+1249G>T (n.2527+1249G>T)
2g.189004286G>ACA430312208COL3A1c.2754G>A (p.Gly918=)
c.2853G>A (p.Gly951=)
c.2527+1250G>A (n.2527+1250G>A)
 ClinVar COSMIC
2g.189004286G>CCA430312209COL3A1c.2754G>C (p.Gly918=)
c.2853G>C (p.Gly951=)
c.2527+1250G>C (n.2527+1250G>C)
2g.189004286G=CA1315403165COL3A1c.2754G= (p.Gly918=)
c.2853G= (p.Gly951=)
c.2527+1250G= (n.2527+1250G=)
2g.189004286G>TCA430312210COL3A1c.2754G>T (p.Gly918=)
c.2853G>T (p.Gly951=)
c.2527+1250G>T (n.2527+1250G>T)
 dbSNP gnomAD v4
2g.189004287A=CA1315403166COL3A1c.2755A= (p.Ile919=)
c.2854A= (p.Ile952=)
c.2527+1251A= (n.2527+1251A=)
2g.189004287A>CCA349844515COL3A1c.2755A>C (p.Ile919Leu)
c.2854A>C (p.Ile952Leu)
c.2527+1251A>C (n.2527+1251A>C)
2g.189004287A>GCA349844517COL3A1c.2755A>G (p.Ile919Val)
c.2854A>G (p.Ile952Val)
c.2527+1251A>G (n.2527+1251A>G)
 dbSNP gnomAD v4
2g.189004287A>TCA349844518COL3A1c.2755A>T (p.Ile919Phe)
c.2854A>T (p.Ile952Phe)
c.2527+1251A>T (n.2527+1251A>T)
 gnomAD v4
2g.189004288T>ACA349844521COL3A1c.2756T>A (p.Ile919Asn)
c.2855T>A (p.Ile952Asn)
c.2527+1252T>A (n.2527+1252T>A)
2g.189004288T>CCA349844520COL3A1c.2756T>C (p.Ile919Thr)
c.2855T>C (p.Ile952Thr)
c.2527+1252T>C (n.2527+1252T>C)
2g.189004288T>GCA349844519COL3A1c.2756T>G (p.Ile919Ser)
c.2855T>G (p.Ile952Ser)
c.2527+1252T>G (n.2527+1252T>G)
2g.189004289C>ACA430312211COL3A1c.2757C>A (p.Ile919=)
c.2856C>A (p.Ile952=)
c.2527+1253C>A (n.2527+1253C>A)
2g.189004289C=CA1315403167COL3A1c.2757C= (p.Ile919=)
c.2856C= (p.Ile952=)
c.2527+1253C= (n.2527+1253C=)
2g.189004289C>GCA349844522COL3A1c.2757C>G (p.Ile919Met)
c.2856C>G (p.Ile952Met)
c.2527+1253C>G (n.2527+1253C>G)
2g.189004289C>TCA430312212COL3A1c.2757C>T (p.Ile919=)
c.2856C>T (p.Ile952=)
c.2527+1253C>T (n.2527+1253C>T)
 dbSNP gnomAD v4
2g.189004290A>CCA349844523COL3A1c.2758A>C (p.Thr920Pro)
c.2857A>C (p.Thr953Pro)
c.2527+1254A>C (n.2527+1254A>C)
 gnomAD v4
2g.189004290A>GCA349844524COL3A1c.2758A>G (p.Thr920Ala)
c.2857A>G (p.Thr953Ala)
c.2527+1254A>G (n.2527+1254A>G)
 gnomAD v4
2g.189004290A>TCA349844525COL3A1c.2758A>T (p.Thr920Ser)
c.2857A>T (p.Thr953Ser)
c.2527+1254A>T (n.2527+1254A>T)
2g.189004291C>ACA349844526COL3A1c.2759C>A (p.Thr920Asn)
c.2858C>A (p.Thr953Asn)
c.2527+1255C>A (n.2527+1255C>A)
 gnomAD v4
2g.189004291C>GCA349844527COL3A1c.2759C>G (p.Thr920Ser)
c.2858C>G (p.Thr953Ser)
c.2527+1255C>G (n.2527+1255C>G)
 gnomAD v4
2g.189004291C>TCA349844528COL3A1c.2759C>T (p.Thr920Ile)
c.2858C>T (p.Thr953Ile)
c.2527+1255C>T (n.2527+1255C>T)
2g.189004292T>ACA430312213COL3A1c.2760T>A (p.Thr920=)
c.2859T>A (p.Thr953=)
c.2527+1256T>A (n.2527+1256T>A)
 dbSNP
2g.189004292T>CCA430312214COL3A1c.2760T>C (p.Thr920=)
c.2859T>C (p.Thr953=)
c.2527+1256T>C (n.2527+1256T>C)
2g.189004292T>GCA430312215COL3A1c.2760T>G (p.Thr920=)
c.2859T>G (p.Thr953=)
c.2527+1256T>G (n.2527+1256T>G)
 gnomAD v4
2g.189004292T=CA1315403168COL3A1c.2760T= (p.Thr920=)
c.2859T= (p.Thr953=)
c.2527+1256T= (n.2527+1256T=)
2g.189004293G>ACA005755COL3A1c.2761G>A (p.Gly921Arg)
c.2860G>A (p.Gly954Arg)
c.2527+1257G>A (n.2527+1257G>A)
 ClinVar dbSNP
2g.189004293G>CCA349844529COL3A1c.2761G>C (p.Gly921Arg)
c.2860G>C (p.Gly954Arg)
c.2527+1257G>C (n.2527+1257G>C)
2g.189004293G=CA1315403169COL3A1c.2761G= (p.Gly921=)
c.2860G= (p.Gly954=)
c.2527+1257G= (n.2527+1257G=)
2g.189004293G>TCA349844530COL3A1c.2761G>T (p.Gly921Ter)
c.2860G>T (p.Gly954Ter)
c.2527+1257G>T (n.2527+1257G>T)
2g.189004294G>ACA005762COL3A1c.2762G>A (p.Gly921Glu)
c.2861G>A (p.Gly954Glu)
c.2527+1258G>A (n.2527+1258G>A)
 ClinVar dbSNP
2g.189004294G>CCA349844531COL3A1c.2762G>C (p.Gly921Ala)
c.2861G>C (p.Gly954Ala)
c.2527+1258G>C (n.2527+1258G>C)
2g.189004294G=CA1315403170COL3A1c.2762G= (p.Gly921=)
c.2861G= (p.Gly954=)
c.2527+1258G= (n.2527+1258G=)
2g.189004294G>TCA349844532COL3A1c.2762G>T (p.Gly921Val)
c.2861G>T (p.Gly954Val)
c.2527+1258G>T (n.2527+1258G>T)
 gnomAD v4
2g.189004295A=CA1315403171COL3A1c.2763A= (p.Gly921=)
c.2862A= (p.Gly954=)
c.2527+1259A= (n.2527+1259A=)
2g.189004295A>CCA430312216COL3A1c.2763A>C (p.Gly921=)
c.2862A>C (p.Gly954=)
c.2527+1259A>C (n.2527+1259A>C)
2g.189004295A>GCA430312217COL3A1c.2763A>G (p.Gly921=)
c.2862A>G (p.Gly954=)
c.2527+1259A>G (n.2527+1259A>G)
2g.189004295A>TCA430312218COL3A1c.2763A>T (p.Gly921=)
c.2862A>T (p.Gly954=)
c.2527+1259A>T (n.2527+1259A>T)
 ClinVar dbSNP gnomAD v2
2g.189004296G>ACA349844533COL3A1c.2764G>A (p.Ala922Thr)
c.2863G>A (p.Ala955Thr)
c.2527+1260G>A (n.2527+1260G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189004296G>CCA349844535COL3A1c.2764G>C (p.Ala922Pro)
c.2863G>C (p.Ala955Pro)
c.2527+1260G>C (n.2527+1260G>C)
2g.189004296G=CA1315403172COL3A1c.2764G= (p.Ala922=)
c.2863G= (p.Ala955=)
c.2527+1260G= (n.2527+1260G=)
2g.189004296G>TCA349844534COL3A1c.2764G>T (p.Ala922Ser)
c.2863G>T (p.Ala955Ser)
c.2527+1260G>T (n.2527+1260G>T)
2g.189004297C>ACA349844536COL3A1c.2765C>A (p.Ala922Glu)
c.2864C>A (p.Ala955Glu)
c.2527+1261C>A (n.2527+1261C>A)
2g.189004297C>GCA349844537COL3A1c.2765C>G (p.Ala922Gly)
c.2864C>G (p.Ala955Gly)
c.2527+1261C>G (n.2527+1261C>G)
2g.189004297C>TCA349844538COL3A1c.2765C>T (p.Ala922Val)
c.2864C>T (p.Ala955Val)
c.2527+1261C>T (n.2527+1261C>T)
 gnomAD v3 gnomAD v4

Number of alleles fetched