Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.46132413_46132564delinsTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCG | CA2392512826 | COL6A2 | c.2921_*12delinsTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCG (n.[c.2921_*12delinsTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCG;Leu974=]) n.2998_3149delinsTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCG n.3005_3156delinsTGGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAGGACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAGCGCCGCCGCCCG | |
21 | g.46132418_46132568del | CA638497932 | COL6A2 | c.2926_*16del (n.[c.2926_*16del;Leu976ProfsTer14]) n.3003_3153del n.3010_3160del | dbSNP gnomAD v2 |
21 | g.46132479_46132560del | CA2654975465 | COL6A2 | c.2987_*8del (n.[c.2987_*8del;Val996AlafsTer17]) n.3064_3145del n.3071_3152del | gnomAD v4 |
21 | g.46132503_46132512dup | CA2392512898 | COL6A2 | c.3011_3020dup (p.Phe1010AlafsTer26) n.3088_3097dup n.3095_3104dup | dbSNP gnomAD v4 |
21 | g.46132509C>A | CA410550670 | COL6A2 | c.3017C>A (p.Ala1006Glu) n.3094C>A n.3101C>A | |
21 | g.46132509C= | CA2392512902 | COL6A2 | c.3017C= (p.Ala1006=) n.3094C= n.3101C= | |
21 | g.46132509C>G | CA410550674 | COL6A2 | c.3017C>G (p.Ala1006Gly) n.3094C>G n.3101C>G | |
21 | g.46132509C>T | CA10073140 | COL6A2 | c.3017C>T (p.Ala1006Val) n.3094C>T n.3101C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46132510G>A | CA10073141 | COL6A2 | c.3018G>A (p.Ala1006=) n.3095G>A n.3102G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.46132510G>C | CA512729693 | COL6A2 | c.3018G>C (p.Ala1006=) n.3095G>C n.3102G>C | |
21 | g.46132510G= | CA2392512903 | COL6A2 | c.3018G= (p.Ala1006=) n.3095G= n.3102G= | |
21 | g.46132510G>T | CA512729695 | COL6A2 | c.3018G>T (p.Ala1006=) n.3095G>T n.3102G>T | gnomAD v4 |
21 | g.46132511C>A | CA410550680 | COL6A2 | c.3019C>A (p.Gln1007Lys) n.3096C>A n.3103C>A | gnomAD v4 |
21 | g.46132511C= | CA2392512904 | COL6A2 | c.3019C= (p.Gln1007=) n.3096C= n.3103C= | |
21 | g.46132511C>G | CA410550682 | COL6A2 | c.3019C>G (p.Gln1007Glu) n.3096C>G n.3103C>G | ClinVar dbSNP gnomAD v4 |
21 | g.46132511C>T | CA410550681 | COL6A2 | c.3019C>T (p.Gln1007Ter) n.3096C>T n.3103C>T | gnomAD v4 COSMIC |
21 | g.46132512A>C | CA410550685 | COL6A2 | c.3020A>C (p.Gln1007Pro) n.3097A>C n.3104A>C | |
21 | g.46132512A>G | CA410550688 | COL6A2 | c.3020A>G (p.Gln1007Arg) n.3097A>G n.3104A>G | gnomAD v4 |
21 | g.46132512A>T | CA410550686 | COL6A2 | c.3020A>T (p.Gln1007Leu) n.3097A>T n.3104A>T | |
21 | g.46132513A>C | CA410550690 | COL6A2 | c.3021A>C (p.Gln1007His) n.3098A>C n.3105A>C | |
21 | g.46132513A>G | CA512729704 | COL6A2 | c.3021A>G (p.Gln1007=) n.3098A>G n.3105A>G | |
21 | g.46132513A>T | CA410550692 | COL6A2 | c.3021A>T (p.Gln1007His) n.3098A>T n.3105A>T | |
21 | g.46132514C>A | CA410550695 | COL6A2 | c.3022C>A (p.Pro1008Thr) n.3099C>A n.3106C>A | |
21 | g.46132514C= | CA2392512905 | COL6A2 | c.3022C= (p.Pro1008=) n.3099C= n.3106C= | |
21 | g.46132514C>G | CA410550697 | COL6A2 | c.3022C>G (p.Pro1008Ala) n.3099C>G n.3106C>G | gnomAD v4 |
21 | g.46132514C>T | CA410550699 | COL6A2 | c.3022C>T (p.Pro1008Ser) n.3099C>T n.3106C>T | dbSNP gnomAD v4 |
21 | g.46132515C>A | CA410550700 | COL6A2 | c.3023C>A (p.Pro1008His) n.3100C>A n.3107C>A | gnomAD v4 |
21 | g.46132515C= | CA2392512906 | COL6A2 | c.3023C= (p.Pro1008=) n.3100C= n.3107C= | |
21 | g.46132515C>G | CA10073142 | COL6A2 | c.3023C>G (p.Pro1008Arg) n.3100C>G n.3107C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46132515C>T | CA410550701 | COL6A2 | c.3023C>T (p.Pro1008Leu) n.3100C>T n.3107C>T | |
21 | g.46132516C>A | CA512729718 | COL6A2 | c.3024C>A (p.Pro1008=) n.3101C>A n.3108C>A | |
21 | g.46132516C= | CA2392512907 | COL6A2 | c.3024C= (p.Pro1008=) n.3101C= n.3108C= | |
21 | g.46132516C>G | CA512729716 | COL6A2 | c.3024C>G (p.Pro1008=) n.3101C>G n.3108C>G | |
21 | g.46132516C>T | CA321980369 | COL6A2 | c.3024C>T (p.Pro1008=) n.3101C>T n.3108C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46132517G>A | CA10073143 | COL6A2 | c.3025G>A (p.Gly1009Ser) n.3102G>A n.3109G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46132517G>C | CA410550705 | COL6A2 | c.3025G>C (p.Gly1009Arg) n.3102G>C n.3109G>C | dbSNP |
21 | g.46132517G= | CA2392512908 | COL6A2 | c.3025G= (p.Gly1009=) n.3102G= n.3109G= | |
21 | g.46132517G>T | CA410550710 | COL6A2 | c.3025G>T (p.Gly1009Cys) n.3102G>T n.3109G>T | gnomAD v4 |
21 | g.46132517_46132529delinsGGCTTCTTCGACC | CA2392512909 | COL6A2 | c.3025_3037delinsGGCTTCTTCGACC (p.Gly1009=) n.3102_3114delinsGGCTTCTTCGACC n.3109_3121delinsGGCTTCTTCGACC | |
21 | g.46132518G>A | CA410550717 | COL6A2 | c.3026G>A (p.Gly1009Asp) n.3103G>A n.3110G>A | dbSNP |
21 | g.46132518G>C | CA410550713 | COL6A2 | c.3026G>C (p.Gly1009Ala) n.3103G>C n.3110G>C | |
21 | g.46132518G= | CA2392512911 | COL6A2 | c.3026G= (p.Gly1009=) n.3103G= n.3110G= | |
21 | g.46132518G>T | CA10073144 | COL6A2 | c.3026G>T (p.Gly1009Val) n.3103G>T n.3110G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.46132518_46132521delinsGCTT | CA2392512910 | COL6A2 | c.3026_3029delinsGCTT (p.Gly1009=) n.3103_3106delinsGCTT n.3110_3113delinsGCTT | |
21 | g.46132523_46132534del | CA916081969 | COL6A2 | c.3031_3042del (p.Phe1011_Phe1014del) n.3108_3119del n.3115_3126del | ClinVar dbSNP |
21 | g.46132519C>A | CA10073146 | COL6A2 | c.3027C>A (p.Gly1009=) n.3104C>A n.3111C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
21 | g.46132519C= | CA2392512912 | COL6A2 | c.3027C= (p.Gly1009=) n.3104C= n.3111C= | |
21 | g.46132519C>G | CA512729732 | COL6A2 | c.3027C>G (p.Gly1009=) n.3104C>G n.3111C>G | |
21 | g.46132519C>T | CA512729735 | COL6A2 | c.3027C>T (p.Gly1009=) n.3104C>T n.3111C>T | gnomAD v4 |
21 | g.46132523_46132525del | CA10073145 | COL6A2 | c.3031_3033del (p.Phe1011del) n.3108_3110del n.3115_3117del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |