| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189000730_189007456del | CA913190215 | COL3A1 | c.2185-667_3157-44del c.2284-667_3256-44del c.2284-667_2528-598del | ClinVar |
| 2 | g.189001289_189008107del | CA913190216 | COL3A1 | c.2185-108_3391del c.2284-108_3490del c.2284-108_2581del | ClinVar |
| 2 | g.189005611_189008365del | CA913190217 | COL3A1 | c.2940+154_3426+223del c.3039+154_3525+223del c.2528-2443_2616+223del | ClinVar |
| 2 | g.189006079_189007097del | CA913190218 | COL3A1 | c.2941-127_3156+107del c.3040-127_3255+107del c.2528-1975_2528-957del (n.2528-1975_2528-957del) | ClinVar |
| 2 | g.189006939_189006965del | CA2586970927 | COL3A1 | c.3105_3131del (p.Pro1036_Gly1044del) c.3204_3230del (p.Pro1069_Gly1077del) c.2528-1115_2528-1089del (n.2528-1115_2528-1089del) | |
| 2 | g.189006948_189006966delinsCCCTGCTGGTGCTCCCGGT | CA1315404347 | COL3A1 | c.3114_3132delinsCCCTGCTGGTGCTCCCGGT (p.Gly1038=) c.3213_3231delinsCCCTGCTGGTGCTCCCGGT (p.Gly1071=) c.2528-1106_2528-1088delinsCCCTGCTGGTGCTCCCGGT (n.2528-1106_2528-1088delinsCCCTGCTGGTGCTCCCGGT) | |
| 2 | g.189006958_189006975del | CA006203 | COL3A1 | c.3124_3141del (p.Ala1042_Gly1047del) c.3223_3240del (p.Ala1075_Gly1080del) c.2528-1096_2528-1079del (n.2528-1096_2528-1079del) | ClinVar dbSNP |
| 2 | g.189006956_189006970dup | CA2586970928 | COL3A1 | c.3122_3136dup (p.Pro1045_Ala1046insGlyAlaProGlyPro) c.3221_3235dup (p.Pro1078_Ala1079insGlyAlaProGlyPro) c.2528-1098_2528-1084dup (n.2528-1098_2528-1084dup) | |
| 2 | g.189006965G>A | CA349845279 | COL3A1 | c.3131G>A (p.Gly1044Asp) c.3230G>A (p.Gly1077Asp) c.2528-1089G>A (n.2528-1089G>A) | COSMIC |
| 2 | g.189006965G>C | CA349845280 | COL3A1 | c.3131G>C (p.Gly1044Ala) c.3230G>C (p.Gly1077Ala) c.2528-1089G>C (n.2528-1089G>C) | |
| 2 | g.189006965G= | CA1315404360 | COL3A1 | c.3131G= (p.Gly1044=) c.3230G= (p.Gly1077=) c.2528-1089G= (n.2528-1089G=) | |
| 2 | g.189006965G>T | CA006214 | COL3A1 | c.3131G>T (p.Gly1044Val) c.3230G>T (p.Gly1077Val) c.2528-1089G>T (n.2528-1089G>T) | ClinVar dbSNP |
| 2 | g.189006966T>A | CA430313120 | COL3A1 | c.3132T>A (p.Gly1044=) c.3231T>A (p.Gly1077=) c.2528-1088T>A (n.2528-1088T>A) | |
| 2 | g.189006966T>C | CA430313118 | COL3A1 | c.3132T>C (p.Gly1044=) c.3231T>C (p.Gly1077=) c.2528-1088T>C (n.2528-1088T>C) | |
| 2 | g.189006966T>G | CA430313114 | COL3A1 | c.3132T>G (p.Gly1044=) c.3231T>G (p.Gly1077=) c.2528-1088T>G (n.2528-1088T>G) | |
| 2 | g.189006967C>A | CA349845281 | COL3A1 | c.3133C>A (p.Pro1045Thr) c.3232C>A (p.Pro1078Thr) c.2528-1087C>A (n.2528-1087C>A) | |
| 2 | g.189006967C= | CA1315404361 | COL3A1 | c.3133C= (p.Pro1045=) c.3232C= (p.Pro1078=) c.2528-1087C= (n.2528-1087C=) | |
| 2 | g.189006967C>G | CA349845282 | COL3A1 | c.3133C>G (p.Pro1045Ala) c.3232C>G (p.Pro1078Ala) c.2528-1087C>G (n.2528-1087C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189006967C>T | CA349845283 | COL3A1 | c.3133C>T (p.Pro1045Ser) c.3232C>T (p.Pro1078Ser) c.2528-1087C>T (n.2528-1087C>T) | gnomAD v4 |
| 2 | g.189006968C>A | CA349845284 | COL3A1 | c.3134C>A (p.Pro1045His) c.3233C>A (p.Pro1078His) c.2528-1086C>A (n.2528-1086C>A) | gnomAD v4 |
| 2 | g.189006968C>G | CA349845285 | COL3A1 | c.3134C>G (p.Pro1045Arg) c.3233C>G (p.Pro1078Arg) c.2528-1086C>G (n.2528-1086C>G) | |
| 2 | g.189006968C>T | CA349845286 | COL3A1 | c.3134C>T (p.Pro1045Leu) c.3233C>T (p.Pro1078Leu) c.2528-1086C>T (n.2528-1086C>T) | |
| 2 | g.189006969T>A | CA430313134 | COL3A1 | c.3135T>A (p.Pro1045=) c.3234T>A (p.Pro1078=) c.2528-1085T>A (n.2528-1085T>A) | |
| 2 | g.189006969T>C | CA430313133 | COL3A1 | c.3135T>C (p.Pro1045=) c.3234T>C (p.Pro1078=) c.2528-1085T>C (n.2528-1085T>C) | |
| 2 | g.189006969T>G | CA430313129 | COL3A1 | c.3135T>G (p.Pro1045=) c.3234T>G (p.Pro1078=) c.2528-1085T>G (n.2528-1085T>G) | |
| 2 | g.189006970G>A | CA349845287 | COL3A1 | c.3136G>A (p.Ala1046Thr) c.3235G>A (p.Ala1079Thr) c.2528-1084G>A (n.2528-1084G>A) | gnomAD v4 |
| 2 | g.189006970G>C | CA349845288 | COL3A1 | c.3136G>C (p.Ala1046Pro) c.3235G>C (p.Ala1079Pro) c.2528-1084G>C (n.2528-1084G>C) | |
| 2 | g.189006970G= | CA1315404362 | COL3A1 | c.3136G= (p.Ala1046=) c.3235G= (p.Ala1079=) c.2528-1084G= (n.2528-1084G=) | |
| 2 | g.189006970G>T | CA349845289 | COL3A1 | c.3136G>T (p.Ala1046Ser) c.3235G>T (p.Ala1079Ser) c.2528-1084G>T (n.2528-1084G>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189006971C>A | CA349845291 | COL3A1 | c.3137C>A (p.Ala1046Asp) c.3236C>A (p.Ala1079Asp) c.2528-1083C>A (n.2528-1083C>A) | |
| 2 | g.189006971C= | CA1315404363 | COL3A1 | c.3137C= (p.Ala1046=) c.3236C= (p.Ala1079=) c.2528-1083C= (n.2528-1083C=) | |
| 2 | g.189006971C>G | CA349845292 | COL3A1 | c.3137C>G (p.Ala1046Gly) c.3236C>G (p.Ala1079Gly) c.2528-1083C>G (n.2528-1083C>G) | dbSNP |
| 2 | g.189006971C>T | CA349845290 | COL3A1 | c.3137C>T (p.Ala1046Val) c.3236C>T (p.Ala1079Val) c.2528-1083C>T (n.2528-1083C>T) | gnomAD v4 |
| 2 | g.189006972T>A | CA430313140 | COL3A1 | c.3138T>A (p.Ala1046=) c.3237T>A (p.Ala1079=) c.2528-1082T>A (n.2528-1082T>A) | |
| 2 | g.189006972T>C | CA430313142 | COL3A1 | c.3138T>C (p.Ala1046=) c.3237T>C (p.Ala1079=) c.2528-1082T>C (n.2528-1082T>C) | gnomAD v4 |
| 2 | g.189006972T>G | CA430313141 | COL3A1 | c.3138T>G (p.Ala1046=) c.3237T>G (p.Ala1079=) c.2528-1082T>G (n.2528-1082T>G) | |
| 2 | g.189006973G>A | CA349845295 | COL3A1 | c.3139G>A (p.Gly1047Ser) c.3238G>A (p.Gly1080Ser) c.2528-1081G>A (n.2528-1081G>A) | |
| 2 | g.189006973G>C | CA349845293 | COL3A1 | c.3139G>C (p.Gly1047Arg) c.3238G>C (p.Gly1080Arg) c.2528-1081G>C (n.2528-1081G>C) | |
| 2 | g.189006973G>T | CA349845294 | COL3A1 | c.3139G>T (p.Gly1047Cys) c.3238G>T (p.Gly1080Cys) c.2528-1081G>T (n.2528-1081G>T) | |
| 2 | g.189006974G>A | CA006219 | COL3A1 | c.3140G>A (p.Gly1047Asp) c.3239G>A (p.Gly1080Asp) c.2528-1080G>A (n.2528-1080G>A) | ClinVar dbSNP |
| 2 | g.189006974G>C | CA349845296 | COL3A1 | c.3140G>C (p.Gly1047Ala) c.3239G>C (p.Gly1080Ala) c.2528-1080G>C (n.2528-1080G>C) | |
| 2 | g.189006974G= | CA1315404364 | COL3A1 | c.3140G= (p.Gly1047=) c.3239G= (p.Gly1080=) c.2528-1080G= (n.2528-1080G=) | |
| 2 | g.189006974G>T | CA349845297 | COL3A1 | c.3140G>T (p.Gly1047Val) c.3239G>T (p.Gly1080Val) c.2528-1080G>T (n.2528-1080G>T) | |
| 2 | g.189006975T>A | CA430313144 | COL3A1 | c.3141T>A (p.Gly1047=) c.3240T>A (p.Gly1080=) c.2528-1079T>A (n.2528-1079T>A) | |
| 2 | g.189006975T>C | CA430313145 | COL3A1 | c.3141T>C (p.Gly1047=) c.3240T>C (p.Gly1080=) c.2528-1079T>C (n.2528-1079T>C) | gnomAD v4 |
| 2 | g.189006975T>G | CA430313146 | COL3A1 | c.3141T>G (p.Gly1047=) c.3240T>G (p.Gly1080=) c.2528-1079T>G (n.2528-1079T>G) | |
| 2 | g.189006976T>A | CA349845298 | COL3A1 | c.3142T>A (p.Ser1048Thr) c.3241T>A (p.Ser1081Thr) c.2528-1078T>A (n.2528-1078T>A) | |
| 2 | g.189006976T>C | CA349845299 | COL3A1 | c.3142T>C (p.Ser1048Pro) c.3241T>C (p.Ser1081Pro) c.2528-1078T>C (n.2528-1078T>C) | |
| 2 | g.189006976T>G | CA349845300 | COL3A1 | c.3142T>G (p.Ser1048Ala) c.3241T>G (p.Ser1081Ala) c.2528-1078T>G (n.2528-1078T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189006976T= | CA1315404365 | COL3A1 | c.3142T= (p.Ser1048=) c.3241T= (p.Ser1081=) c.2528-1078T= (n.2528-1078T=) |