Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.94426014_94426022dup | CA2695208049 | COL1A2 | c.2960_2968dup (p.Pro989_Ala990insValGlyPro) n.519_527dup n.2933_2941dup c.2954_2962dup (p.Pro987_Ala988insValGlyPro) | |
7 | g.94426011_94426012delinsCT | CA1726782405 | COL1A2 | c.2957_2958delinsCT (p.Pro986=) n.516_517delinsCT n.2930_2931delinsCT c.2951_2952delinsCT (p.Pro984=) | |
7 | g.94426018_94426035dup | CA2695208050 | COL1A2 | c.2964_2981dup (p.Gly994_Pro995insProAlaGlyAlaValGly) n.523_540dup n.2937_2954dup c.2958_2975dup (p.Gly992_Pro993insProAlaGlyAlaValGly) | |
7 | g.94426012del | CA16618577 | COL1A2 | c.2958del (p.Val987LeufsTer?) n.517del n.2931del c.2952del (p.Val985LeufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94426012T>A | CA456490270 | COL1A2 | c.2958T>A (p.Pro986=) n.517T>A n.2931T>A c.2952T>A (p.Pro984=) | |
7 | g.94426012T>C | CA456490271 | COL1A2 | c.2958T>C (p.Pro986=) n.517T>C n.2931T>C c.2952T>C (p.Pro984=) | |
7 | g.94426012T>G | CA456490272 | COL1A2 | c.2958T>G (p.Pro986=) n.517T>G n.2931T>G c.2952T>G (p.Pro984=) | gnomAD v4 |
7 | g.94426013G>A | CA4347622 | COL1A2 | c.2959G>A (p.Val987Ile) n.518G>A n.2932G>A c.2953G>A (p.Val985Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94426013G>C | CA368224975 | COL1A2 | c.2959G>C (p.Val987Leu) n.518G>C n.2932G>C c.2953G>C (p.Val985Leu) | |
7 | g.94426013G= | CA1726782425 | COL1A2 | c.2959G= (p.Val987=) n.518G= n.2932G= c.2953G= (p.Val985=) | |
7 | g.94426013G>T | CA368224974 | COL1A2 | c.2959G>T (p.Val987Phe) n.518G>T n.2932G>T c.2953G>T (p.Val985Phe) | |
7 | g.94426014T>A | CA368224976 | COL1A2 | c.2960T>A (p.Val987Asp) n.519T>A n.2933T>A c.2954T>A (p.Val985Asp) | |
7 | g.94426014T>C | CA368224977 | COL1A2 | c.2960T>C (p.Val987Ala) n.519T>C n.2933T>C c.2954T>C (p.Val985Ala) | ClinVar dbSNP gnomAD v4 |
7 | g.94426014T>G | CA368224978 | COL1A2 | c.2960T>G (p.Val987Gly) n.519T>G n.2933T>G c.2954T>G (p.Val985Gly) | |
7 | g.94426014T= | CA1726782435 | COL1A2 | c.2960T= (p.Val987=) n.519T= n.2933T= c.2954T= (p.Val985=) | |
7 | g.94426015T>A | CA456490273 | COL1A2 | c.2961T>A (p.Val987=) n.520T>A n.2934T>A c.2955T>A (p.Val985=) | |
7 | g.94426015T>C | CA456490274 | COL1A2 | c.2961T>C (p.Val987=) n.520T>C n.2934T>C c.2955T>C (p.Val985=) | |
7 | g.94426015T>G | CA456490275 | COL1A2 | c.2961T>G (p.Val987=) n.520T>G n.2934T>G c.2955T>G (p.Val985=) | ClinVar dbSNP |
7 | g.94426015T= | CA1726782451 | COL1A2 | c.2961T= (p.Val987=) n.520T= n.2934T= c.2955T= (p.Val985=) | |
7 | g.94426019_94426027dup | CA658796974 | COL1A2 | c.2965_2973dup (p.Gly991_Ala992insProAlaGly) n.524_532dup n.2938_2946dup c.2959_2967dup (p.Gly989_Ala990insProAlaGly) | ClinVar dbSNP |
7 | g.94426016G>A | CA368224979 | COL1A2 | c.2962G>A (p.Gly988Ser) n.521G>A n.2935G>A c.2956G>A (p.Gly986Ser) | |
7 | g.94426016G>C | CA368224980 | COL1A2 | c.2962G>C (p.Gly988Arg) n.521G>C n.2935G>C c.2956G>C (p.Gly986Arg) | COSMIC |
7 | g.94426016G>T | CA368224981 | COL1A2 | c.2962G>T (p.Gly988Cys) n.521G>T n.2935G>T c.2956G>T (p.Gly986Cys) | ClinVar |
7 | g.94426026_94426027insCCCCGCTGGTGAGCGTGGTCCTGCTGGAACTCCTGGACCGCAAGGTGAGCGTGGTCCTGCTGGCCCGCAAGGTATCCCCGGTCCACAAGGTCCTGCTGG | CA913127995 | COL1A2 | c.2972_2973insCCCCGCTGGTGAGCGTGGTCCTGCTGGAACTCCTGGACCGCAAGGTGAGCGTGGTCCTGCTGGCCCGCAAGGTATCCCCGGTCCACAAGGTCCTGCTGG (p.Gly991_Ala992insProAlaGlyGluArgGlyProAlaGlyThrProGlyProGlnGlyGluArgGlyProAlaGlyProGlnGlyIleProGlyProGlnGlyProAlaGly) n.531_532insCCCCGCTGGTGAGCGTGGTCCTGCTGGAACTCCTGGACCGCAAGGTGAGCGTGGTCCTGCTGGCCCGCAAGGTATCCCCGGTCCACAAGGTCCTGCTGG n.2945_2946insCCCCGCTGGTGAGCGTGGTCCTGCTGGAACTCCTGGACCGCAAGGTGAGCGTGGTCCTGCTGGCCCGCAAGGTATCCCCGGTCCACAAGGTCCTGCTGG c.2966_2967insCCCCGCTGGTGAGCGTGGTCCTGCTGGAACTCCTGGACCGCAAGGTGAGCGTGGTCCTGCTGGCCCGCAAGGTATCCCCGGTCCACAAGGTCCTGCTGG (p.Gly989_Ala990insProAlaGlyGluArgGlyProAlaGlyThrProGlyProGlnGlyGluArgGlyProAlaGlyProGlnGlyIleProGlyProGlnGlyProAlaGly) | |
7 | g.94426017G>A | CA368224982 | COL1A2 | c.2963G>A (p.Gly988Asp) n.522G>A n.2936G>A c.2957G>A (p.Gly986Asp) | |
7 | g.94426017G>C | CA368224983 | COL1A2 | c.2963G>C (p.Gly988Ala) n.522G>C n.2936G>C c.2957G>C (p.Gly986Ala) | |
7 | g.94426017G= | CA1726782463 | COL1A2 | c.2963G= (p.Gly988=) n.522G= n.2936G= c.2957G= (p.Gly986=) | |
7 | g.94426017G>T | CA162940136 | COL1A2 | c.2963G>T (p.Gly988Val) n.522G>T n.2936G>T c.2957G>T (p.Gly986Val) | dbSNP |
7 | g.94426018T>A | CA456490276 | COL1A2 | c.2964T>A (p.Gly988=) n.523T>A n.2937T>A c.2958T>A (p.Gly986=) | |
7 | g.94426018T>C | CA456490277 | COL1A2 | c.2964T>C (p.Gly988=) n.523T>C n.2937T>C c.2958T>C (p.Gly986=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94426018T>G | CA456490278 | COL1A2 | c.2964T>G (p.Gly988=) n.523T>G n.2937T>G c.2958T>G (p.Gly986=) | |
7 | g.94426018T= | CA1726782468 | COL1A2 | c.2964T= (p.Gly988=) n.523T= n.2937T= c.2958T= (p.Gly986=) | |
7 | g.94426019C>A | CA368224984 | COL1A2 | c.2965C>A (p.Pro989Thr) n.524C>A n.2938C>A c.2959C>A (p.Pro987Thr) | |
7 | g.94426019C>G | CA368224985 | COL1A2 | c.2965C>G (p.Pro989Ala) n.524C>G n.2938C>G c.2959C>G (p.Pro987Ala) | |
7 | g.94426019C>T | CA368224986 | COL1A2 | c.2965C>T (p.Pro989Ser) n.524C>T n.2938C>T c.2959C>T (p.Pro987Ser) | gnomAD v4 |
7 | g.94426021_94426038dup | CA2695208051 | COL1A2 | c.2967_2984dup (p.Pro995_Arg996insAlaGlyAlaValGlyPro) n.526_543dup n.2940_2957dup c.2961_2978dup (p.Pro993_Arg994insAlaGlyAlaValGlyPro) | |
7 | g.94426020C>A | CA368224989 | COL1A2 | c.2966C>A (p.Pro989His) n.525C>A n.2939C>A c.2960C>A (p.Pro987His) | |
7 | g.94426020C= | CA1726782472 | COL1A2 | c.2966C= (p.Pro989=) n.525C= n.2939C= c.2960C= (p.Pro987=) | |
7 | g.94426020C>G | CA368224988 | COL1A2 | c.2966C>G (p.Pro989Arg) n.525C>G n.2939C>G c.2960C>G (p.Pro987Arg) | gnomAD v4 |
7 | g.94426020C>T | CA368224987 | COL1A2 | c.2966C>T (p.Pro989Leu) n.525C>T n.2939C>T c.2960C>T (p.Pro987Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94426021T>A | CA456490279 | COL1A2 | c.2967T>A (p.Pro989=) n.526T>A n.2940T>A c.2961T>A (p.Pro987=) | gnomAD v4 |
7 | g.94426021T>C | CA4347623 | COL1A2 | c.2967T>C (p.Pro989=) n.526T>C n.2940T>C c.2961T>C (p.Pro987=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94426021T>G | CA456490280 | COL1A2 | c.2967T>G (p.Pro989=) n.526T>G n.2940T>G c.2961T>G (p.Pro987=) | |
7 | g.94426021T= | CA1726782479 | COL1A2 | c.2967T= (p.Pro989=) n.526T= n.2940T= c.2961T= (p.Pro987=) | |
7 | g.94426022G>A | CA368224990 | COL1A2 | c.2968G>A (p.Ala990Thr) n.527G>A n.2941G>A c.2962G>A (p.Ala988Thr) | gnomAD v4 |
7 | g.94426022G>C | CA368224991 | COL1A2 | c.2968G>C (p.Ala990Pro) n.527G>C n.2941G>C c.2962G>C (p.Ala988Pro) | |
7 | g.94426022G= | CA1726782491 | COL1A2 | c.2968G= (p.Ala990=) n.527G= n.2941G= c.2962G= (p.Ala988=) | |
7 | g.94426022G>T | CA4347624 | COL1A2 | c.2968G>T (p.Ala990Ser) n.527G>T n.2941G>T c.2962G>T (p.Ala988Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94426023C>A | CA162940151 | COL1A2 | c.2969C>A (p.Ala990Asp) n.528C>A n.2942C>A c.2963C>A (p.Ala988Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.94426023C= | CA1726782500 | COL1A2 | c.2969C= (p.Ala990=) n.528C= n.2942C= c.2963C= (p.Ala988=) |