| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50188566_50188580delinsAACGGGGCCAGGGGC | CA2263915204 | COL1A1 | c.3157_3171delinsGCCCCTGGCCCCGTT (p.Ala1053=) n.101_115delinsGCCCCTGGCCCCGTT c.2887_2901delinsGCCCCTGGCCCCGTT (p.Ala963=) c.2239_2253delinsGCCCCTGGCCCCGTT (p.Ala747=) c.2959_2973delinsGCCCCTGGCCCCGTT (p.Ala987=) | |
| 17 | g.50188569_50188582del | CA16620474 | COL1A1 | c.3157_3170del (p.Ala1053TrpfsTer8) n.101_114del c.2887_2900del (p.Ala963TrpfsTer8) c.2239_2252del (p.Ala747TrpfsTer8) c.2959_2972del (p.Ala987TrpfsTer8) | ClinVar dbSNP |
| 17 | g.50188572_50188581delinsGCCAGGGGCA | CA2263915210 | COL1A1 | c.3156_3165delinsTGCCCCTGGC (p.Gly1052=) n.100_109delinsTGCCCCTGGC c.2886_2895delinsTGCCCCTGGC (p.Gly962=) c.2238_2247delinsTGCCCCTGGC (p.Gly746=) c.2958_2967delinsTGCCCCTGGC (p.Gly986=) | |
| 17 | g.50188578_50188586del | CA291543065 | COL1A1 | c.3156_3164del (p.Ala1053_Gly1055del) n.100_108del c.2886_2894del (p.Ala963_Gly965del) c.2238_2246del (p.Ala747_Gly749del) c.2958_2966del (p.Ala987_Gly989del) | dbSNP |
| 17 | g.50188576_50188613delinsGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGC | CA2263915215 | COL1A1 | c.3124_3161delinsGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCC (p.Ala1042=) n.68_105delinsGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCC c.2854_2891delinsGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCC (p.Ala952=) c.2206_2243delinsGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCC (p.Ala736=) c.2926_2963delinsGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCC (p.Ala976=) | |
| 17 | g.50188580_50188616del | CA913190878 | COL1A1 | c.3124_3160del (p.Ala1042LeufsTer?) n.68_104del c.2854_2890del (p.Ala952LeufsTer?) c.2206_2242del (p.Ala736LeufsTer?) c.2926_2962del (p.Ala976LeufsTer?) | ClinVar dbSNP |
| 17 | g.50188578_50188587delinsGGCACCAGGA | CA2263915216 | COL1A1 | c.3150_3159delinsTCCTGGTGCC (p.Ala1050=) n.94_103delinsTCCTGGTGCC c.2880_2889delinsTCCTGGTGCC (p.Ala960=) c.2232_2241delinsTCCTGGTGCC (p.Ala744=) c.2952_2961delinsTCCTGGTGCC (p.Ala984=) | |
| 17 | g.50188579G>A | CA400200984 | COL1A1 | c.3158C>T (p.Ala1053Val) n.102C>T c.2888C>T (p.Ala963Val) c.2240C>T (p.Ala747Val) c.2960C>T (p.Ala987Val) | |
| 17 | g.50188579G>C | CA400200988 | COL1A1 | c.3158C>G (p.Ala1053Gly) n.102C>G c.2888C>G (p.Ala963Gly) c.2240C>G (p.Ala747Gly) c.2960C>G (p.Ala987Gly) | |
| 17 | g.50188579G>T | CA400201004 | COL1A1 | c.3158C>A (p.Ala1053Asp) n.102C>A c.2888C>A (p.Ala963Asp) c.2240C>A (p.Ala747Asp) c.2960C>A (p.Ala987Asp) | |
| 17 | g.50188579_50188580insGACCAGGAG | CA2695226471 | COL1A1 | c.3158_3159insTCCTGGTCC (p.Ala1053_Pro1054insProGlyPro) n.102_103insTCCTGGTCC c.2888_2889insTCCTGGTCC (p.Ala963_Pro964insProGlyPro) c.2240_2241insTCCTGGTCC (p.Ala747_Pro748insProGlyPro) c.2960_2961insTCCTGGTCC (p.Ala987_Pro988insProGlyPro) | |
| 17 | g.50188580_50188585dup | CA291543066 | COL1A1 | c.3153_3158dup (p.Ala1053_Pro1054insGlyAla) n.97_102dup c.2883_2888dup (p.Ala963_Pro964insGlyAla) c.2235_2240dup (p.Ala747_Pro748insGlyAla) c.2955_2960dup (p.Ala987_Pro988insGlyAla) | dbSNP |
| 17 | g.50188596_50188604dup | CA16042995 | COL1A1 | c.3150_3158dup (p.Ala1053_Pro1054insProGlyAla) n.94_102dup c.2880_2888dup (p.Ala963_Pro964insProGlyAla) c.2232_2240dup (p.Ala747_Pro748insProGlyAla) c.2952_2960dup (p.Ala987_Pro988insProGlyAla) | ClinVar dbSNP |
| 17 | g.50188596_50188604del | CA16043049 | COL1A1 | c.3150_3158del (p.Pro1051_Ala1053del) n.94_102del c.2880_2888del (p.Pro961_Ala963del) c.2232_2240del (p.Pro745_Ala747del) c.2952_2960del (p.Pro985_Ala987del) | ClinVar dbSNP |
| 17 | g.50188580C>A | CA400201048 | COL1A1 | c.3157G>T (p.Ala1053Ser) n.101G>T c.2887G>T (p.Ala963Ser) c.2239G>T (p.Ala747Ser) c.2959G>T (p.Ala987Ser) | |
| 17 | g.50188580C= | CA2263915218 | COL1A1 | c.3157G= (p.Ala1053=) n.101G= c.2887G= (p.Ala963=) c.2239G= (p.Ala747=) c.2959G= (p.Ala987=) | |
| 17 | g.50188580C>G | CA400201030 | COL1A1 | c.3157G>C (p.Ala1053Pro) n.101G>C c.2887G>C (p.Ala963Pro) c.2239G>C (p.Ala747Pro) c.2959G>C (p.Ala987Pro) | dbSNP |
| 17 | g.50188580C>T | CA400201019 | COL1A1 | c.3157G>A (p.Ala1053Thr) n.101G>A c.2887G>A (p.Ala963Thr) c.2239G>A (p.Ala747Thr) c.2959G>A (p.Ala987Thr) | |
| 17 | g.50188581del | CA2580094228 | COL1A1 | c.3156del (p.Ala1053ProfsTer?) n.100del c.2886del (p.Ala963ProfsTer?) c.2238del (p.Ala747ProfsTer?) c.2958del (p.Ala987ProfsTer?) | ClinVar |
| 17 | g.50188581A= | CA2263915219 | COL1A1 | c.3156T= (p.Gly1052=) n.100T= c.2886T= (p.Gly962=) c.2238T= (p.Gly746=) c.2958T= (p.Gly986=) | |
| 17 | g.50188581A>C | CA500844414 | COL1A1 | c.3156T>G (p.Gly1052=) n.100T>G c.2886T>G (p.Gly962=) c.2238T>G (p.Gly746=) c.2958T>G (p.Gly986=) | |
| 17 | g.50188581A>G | CA500844415 | COL1A1 | c.3156T>C (p.Gly1052=) n.100T>C c.2886T>C (p.Gly962=) c.2238T>C (p.Gly746=) c.2958T>C (p.Gly986=) | dbSNP |
| 17 | g.50188581A>T | CA500844416 | COL1A1 | c.3156T>A (p.Gly1052=) n.100T>A c.2886T>A (p.Gly962=) c.2238T>A (p.Gly746=) c.2958T>A (p.Gly986=) | |
| 17 | g.50188582C>A | CA400201054 | COL1A1 | c.3155G>T (p.Gly1052Val) n.99G>T c.2885G>T (p.Gly962Val) c.2237G>T (p.Gly746Val) c.2957G>T (p.Gly986Val) | |
| 17 | g.50188582C>G | CA400201057 | COL1A1 | c.3155G>C (p.Gly1052Ala) n.99G>C c.2885G>C (p.Gly962Ala) c.2237G>C (p.Gly746Ala) c.2957G>C (p.Gly986Ala) | ClinVar |
| 17 | g.50188582C>T | CA400201058 | COL1A1 | c.3155G>A (p.Gly1052Asp) n.99G>A c.2885G>A (p.Gly962Asp) c.2237G>A (p.Gly746Asp) c.2957G>A (p.Gly986Asp) | |
| 17 | g.50188583C>A | CA400201059 | COL1A1 | c.3154G>T (p.Gly1052Cys) n.98G>T c.2884G>T (p.Gly962Cys) c.2236G>T (p.Gly746Cys) c.2956G>T (p.Gly986Cys) | |
| 17 | g.50188583C= | CA2263915220 | COL1A1 | c.3154G= (p.Gly1052=) n.98G= c.2884G= (p.Gly962=) c.2236G= (p.Gly746=) c.2956G= (p.Gly986=) | |
| 17 | g.50188583C>G | CA400201063 | COL1A1 | c.3154G>C (p.Gly1052Arg) n.98G>C c.2884G>C (p.Gly962Arg) c.2236G>C (p.Gly746Arg) c.2956G>C (p.Gly986Arg) | |
| 17 | g.50188583C>T | CA291543067 | COL1A1 | c.3154G>A (p.Gly1052Ser) n.98G>A c.2884G>A (p.Gly962Ser) c.2236G>A (p.Gly746Ser) c.2956G>A (p.Gly986Ser) | dbSNP gnomAD v4 |
| 17 | g.50188584_50188591dup | CA919856573 | COL1A1 | c.3147_3154dup (p.Gly1052ValfsTer?) n.91_98dup c.2877_2884dup (p.Gly962ValfsTer?) c.2229_2236dup (p.Gly746ValfsTer?) c.2949_2956dup (p.Gly986ValfsTer?) | dbSNP |
| 17 | g.50188584A>C | CA500844417 | COL1A1 | c.3153T>G (p.Pro1051=) n.97T>G c.2883T>G (p.Pro961=) c.2235T>G (p.Pro745=) c.2955T>G (p.Pro985=) | |
| 17 | g.50188584A>G | CA500844418 | COL1A1 | c.3153T>C (p.Pro1051=) n.97T>C c.2883T>C (p.Pro961=) c.2235T>C (p.Pro745=) c.2955T>C (p.Pro985=) | |
| 17 | g.50188584A>T | CA500844419 | COL1A1 | c.3153T>A (p.Pro1051=) n.97T>A c.2883T>A (p.Pro961=) c.2235T>A (p.Pro745=) c.2955T>A (p.Pro985=) | |
| 17 | g.50188585G>A | CA400201073 | COL1A1 | c.3152C>T (p.Pro1051Leu) n.96C>T c.2882C>T (p.Pro961Leu) c.2234C>T (p.Pro745Leu) c.2954C>T (p.Pro985Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50188585G>C | CA400201081 | COL1A1 | c.3152C>G (p.Pro1051Arg) n.96C>G c.2882C>G (p.Pro961Arg) c.2234C>G (p.Pro745Arg) c.2954C>G (p.Pro985Arg) | |
| 17 | g.50188585G>T | CA400201076 | COL1A1 | c.3152C>A (p.Pro1051His) n.96C>A c.2882C>A (p.Pro961His) c.2234C>A (p.Pro745His) c.2954C>A (p.Pro985His) | |
| 17 | g.50188586G>A | CA400201087 | COL1A1 | c.3151C>T (p.Pro1051Ser) n.95C>T c.2881C>T (p.Pro961Ser) c.2233C>T (p.Pro745Ser) c.2953C>T (p.Pro985Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50188586G>C | CA400201089 | COL1A1 | c.3151C>G (p.Pro1051Ala) n.95C>G c.2881C>G (p.Pro961Ala) c.2233C>G (p.Pro745Ala) c.2953C>G (p.Pro985Ala) | |
| 17 | g.50188586G= | CA2263915221 | COL1A1 | c.3151C= (p.Pro1051=) n.95C= c.2881C= (p.Pro961=) c.2233C= (p.Pro745=) c.2953C= (p.Pro985=) | |
| 17 | g.50188586G>T | CA400201111 | COL1A1 | c.3151C>A (p.Pro1051Thr) n.95C>A c.2881C>A (p.Pro961Thr) c.2233C>A (p.Pro745Thr) c.2953C>A (p.Pro985Thr) | |
| 17 | g.50188587A= | CA2263915222 | COL1A1 | c.3150T= (p.Ala1050=) n.94T= c.2880T= (p.Ala960=) c.2232T= (p.Ala744=) c.2952T= (p.Ala984=) | |
| 17 | g.50188587A>C | CA500844421 | COL1A1 | c.3150T>G (p.Ala1050=) n.94T>G c.2880T>G (p.Ala960=) c.2232T>G (p.Ala744=) c.2952T>G (p.Ala984=) | dbSNP |
| 17 | g.50188587A>G | CA500844422 | COL1A1 | c.3150T>C (p.Ala1050=) n.94T>C c.2880T>C (p.Ala960=) c.2232T>C (p.Ala744=) c.2952T>C (p.Ala984=) | |
| 17 | g.50188587A>T | CA500844420 | COL1A1 | c.3150T>A (p.Ala1050=) n.94T>A c.2880T>A (p.Ala960=) c.2232T>A (p.Ala744=) c.2952T>A (p.Ala984=) | |
| 17 | g.50188588G>A | CA400201115 | COL1A1 | c.3149C>T (p.Ala1050Val) n.93C>T c.2879C>T (p.Ala960Val) c.2231C>T (p.Ala744Val) c.2951C>T (p.Ala984Val) | gnomAD v4 |
| 17 | g.50188588G>C | CA400201117 | COL1A1 | c.3149C>G (p.Ala1050Gly) n.93C>G c.2879C>G (p.Ala960Gly) c.2231C>G (p.Ala744Gly) c.2951C>G (p.Ala984Gly) | |
| 17 | g.50188588G>T | CA400201121 | COL1A1 | c.3149C>A (p.Ala1050Asp) n.93C>A c.2879C>A (p.Ala960Asp) c.2231C>A (p.Ala744Asp) c.2951C>A (p.Ala984Asp) | |
| 17 | g.50188589C>A | CA400201134 | COL1A1 | c.3148G>T (p.Ala1050Ser) n.92G>T c.2878G>T (p.Ala960Ser) c.2230G>T (p.Ala744Ser) c.2950G>T (p.Ala984Ser) | |
| 17 | g.50188589C>G | CA400201138 | COL1A1 | c.3148G>C (p.Ala1050Pro) n.92G>C c.2878G>C (p.Ala960Pro) c.2230G>C (p.Ala744Pro) c.2950G>C (p.Ala984Pro) | gnomAD v4 |