| 21 | g.45987508_45988380del | CA2580098894 | COL6A1 | c.748_805-704del
| ClinVar |
| 21 | g.45987793_45987816dup | CA1022877983 | COL6A1 | c.804+139_804+162dup (n.804+139_804+162dup)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987769_45987816dup | CA2654957122 | COL6A1 | c.804+115_804+162dup (n.804+115_804+162dup)
| gnomAD v4 |
| 21 | g.45987793_45987816del | CA512711278 | COL6A1 | c.804+139_804+162del (n.804+139_804+162del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987769_45987816del | CA2591412425 | COL6A1 | c.804+115_804+162del (n.804+115_804+162del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987762_45987833del | CA2654957117 | COL6A1 | c.804+108_804+179del (n.804+108_804+179del)
| gnomAD v4 |
| 21 | g.45987769_45988002del | CA2818096906 | COL6A1 | c.804+115_804+348del (n.804+115_804+348del)
| |
| 21 | g.45987770_45987841del | CA2654957128 | COL6A1 | c.804+116_804+187del (n.804+116_804+187del)
| gnomAD v4 |
| 21 | g.45987765_45988130del | CA1139635882 | COL6A1 | c.804+111_804+476del (n.804+111_804+476del)
| |
| 21 | g.45987766_45987837delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGC | CA2392432220 | COL6A1 | c.804+112_804+183delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGC (n.804+112_804+183delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGC)
| |
| 21 | g.45987766_45987860delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC | CA2392432222 | COL6A1 | c.804+112_804+206delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC (n.804+112_804+206delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC)
| |
| 21 | g.45987766_45987883delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC | CA2392432219 | COL6A1 | c.804+112_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC (n.804+112_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC)
| |
| 21 | g.45987766_45987906delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC | CA2392432221 | COL6A1 | c.804+112_804+252delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC (n.804+112_804+252delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC)
| |
| 21 | g.45987816_45987817insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG | CA2654957147 | COL6A1 | c.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG (n.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG)
| gnomAD v4 |
| 21 | g.45987816_45987817insGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG | CA2654957148 | COL6A1 | c.804+162_804+163insGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG (n.804+162_804+163insGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG)
| gnomAD v4 |
| 21 | g.45987816_45987817insGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG | CA2818096918 | COL6A1 | c.804+162_804+163insGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG (n.804+162_804+163insGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGG)
| |
| 21 | g.45987770_45987816dup | CA2654957149 | COL6A1 | c.804+116_804+162dup (n.804+116_804+162dup)
| gnomAD v4 |
| 21 | g.45987794_45987864del | CA638177893 | COL6A1 | c.804+140_804+210del (n.804+140_804+210del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987887del | CA638177894 | COL6A1 | c.804+140_804+233del (n.804+140_804+233del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987786_45987902del | CA1022878006 | COL6A1 | c.804+132_804+248del (n.804+132_804+248del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987933del | CA638177891 | COL6A1 | c.804+140_804+279del (n.804+140_804+279del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987956del | CA1022878007 | COL6A1 | c.804+140_804+302del (n.804+140_804+302del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987768_45987817delinsGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGA | CA2392432224 | COL6A1 | c.804+114_804+163delinsGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGA (n.804+114_804+163delinsGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987770_45987818del | CA638177896 | COL6A1 | c.804+116_804+164del (n.804+116_804+164del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987769_45988003delinsGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432227 | COL6A1 | c.804+115_804+349delinsGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+115_804+349delinsGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987786_45987833dup | CA2654957156 | COL6A1 | c.804+132_804+179dup (n.804+132_804+179dup)
| gnomAD v4 |
| 21 | g.45987786_45987833del | CA2654957155 | COL6A1 | c.804+132_804+179del (n.804+132_804+179del)
| gnomAD v4 |
| 21 | g.45987770_45987980delinsGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC | CA2392432229 | COL6A1 | c.804+116_804+326delinsGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC (n.804+116_804+326delinsGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC)
| |
| 21 | g.45987794_45988027del | CA638177899 | COL6A1 | c.804+140_804+373del (n.804+140_804+373del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987793_45988002del | CA1022878020 | COL6A1 | c.804+139_804+348del (n.804+139_804+348del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987772_45987839del | CA2654957161 | COL6A1 | c.804+118_804+185del (n.804+118_804+185del)
| gnomAD v4 |
| 21 | g.45987773_45987844del | CA2654957162 | COL6A1 | c.804+119_804+190del (n.804+119_804+190del)
| gnomAD v4 |
| 21 | g.45987773_45987841del | CA2654957167 | COL6A1 | c.804+119_804+187del (n.804+119_804+187del)
| gnomAD v4 |
| 21 | g.45987773_45988004del | CA1022878023 | COL6A1 | c.804+119_804+350del (n.804+119_804+350del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987776_45987838del | CA2654957169 | COL6A1 | c.804+122_804+184del (n.804+122_804+184del)
| gnomAD v4 |
| 21 | g.45987776_45987841del | CA2654957170 | COL6A1 | c.804+122_804+187del (n.804+122_804+187del)
| gnomAD v4 |
| 21 | g.45987780_45987838del | CA2654957176 | COL6A1 | c.804+126_804+184del (n.804+126_804+184del)
| gnomAD v4 |
| 21 | g.45987786_45987834delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGAT | CA2392432239 | COL6A1 | c.804+132_804+180delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGAT (n.804+132_804+180delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGAT)
| |
| 21 | g.45987786_45987903delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT | CA2392432238 | COL6A1 | c.804+132_804+249delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT (n.804+132_804+249delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT)
| |
| 21 | g.45987794_45987841del | CA512711294 | COL6A1 | c.804+140_804+187del (n.804+140_804+187del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987787_45987846del | CA2654957183 | COL6A1 | c.804+133_804+192del (n.804+133_804+192del)
| gnomAD v4 |
| 21 | g.45987794_45987910del | CA638177901 | COL6A1 | c.804+140_804+256del (n.804+140_804+256del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987789_45987804delinsCGGGGGTCCAGATGGA | CA2392432244 | COL6A1 | c.804+135_804+150delinsCGGGGGTCCAGATGGA (n.804+135_804+150delinsCGGGGGTCCAGATGGA)
| |
| 21 | g.45987789_45987814delinsCGGGGGTCCAGATGGAGGGGACGGCG | CA2392432246 | COL6A1 | c.804+135_804+160delinsCGGGGGTCCAGATGGAGGGGACGGCG (n.804+135_804+160delinsCGGGGGTCCAGATGGAGGGGACGGCG)
| |
| 21 | g.45987794_45987808del | CA638177904 | COL6A1 | c.804+140_804+154del (n.804+140_804+154del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987792_45987816del | CA1022878113 | COL6A1 | c.804+138_804+162del (n.804+138_804+162del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987790_45987860delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC | CA2392432249 | COL6A1 | c.804+136_804+206delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC (n.804+136_804+206delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC)
| |
| 21 | g.45987790_45987883delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC | CA2392432248 | COL6A1 | c.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC (n.804+136_804+229delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGC)
| |
| 21 | g.45987790_45987906delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC | CA2392432247 | COL6A1 | c.804+136_804+252delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC (n.804+136_804+252delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC)
| |
| 21 | g.45987790_45987929delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC | CA2392432251 | COL6A1 | c.804+136_804+275delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC (n.804+136_804+275delinsGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC)
| |
| 21 | g.45987816_45987817insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGG | CA2654957193 | COL6A1 | c.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGG (n.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGG)
| gnomAD v4 |
| 21 | g.45987794_45987816dup | CA2654957192 | COL6A1 | c.804+140_804+162dup (n.804+140_804+162dup)
| gnomAD v4 |
| 21 | g.45987817_45987863dup | CA2654957194 | COL6A1 | c.804+163_804+209dup (n.804+163_804+209dup)
| gnomAD v4 |
| 21 | g.45987817_45987863del | CA512711303 | COL6A1 | c.804+163_804+209del (n.804+163_804+209del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45987886del | CA1022878126 | COL6A1 | c.804+163_804+232del (n.804+163_804+232del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987810_45987902del | CA1022878124 | COL6A1 | c.804+156_804+248del (n.804+156_804+248del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45987932del | CA1022878123 | COL6A1 | c.804+163_804+278del (n.804+163_804+278del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45987955del | CA920320840 | COL6A1 | c.804+163_804+301del (n.804+163_804+301del)
| dbSNP |
| 21 | g.45987792_45987817delinsGGGTCCAGATGGAGGGGACGGCGGGA | CA2392432258 | COL6A1 | c.804+138_804+163delinsGGGTCCAGATGGAGGGGACGGCGGGA (n.804+138_804+163delinsGGGTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987792_45988003delinsGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432257 | COL6A1 | c.804+138_804+349delinsGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+138_804+349delinsGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987793_45987817delinsGGTCCAGATGGAGGGGACGGCGGGA | CA2392432261 | COL6A1 | c.804+139_804+163delinsGGTCCAGATGGAGGGGACGGCGGGA (n.804+139_804+163delinsGGTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987794_45987818del | CA920320841 | COL6A1 | c.804+140_804+164del (n.804+140_804+164del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987793_45987980delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC | CA2392432260 | COL6A1 | c.804+139_804+326delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC (n.804+139_804+326delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC)
| |
| 21 | g.45987793_45988003delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432259 | COL6A1 | c.804+139_804+349delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+139_804+349delinsGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987794_45988004del | CA638177910 | COL6A1 | c.804+140_804+350del (n.804+140_804+350del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987816_45987817insGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGG | CA2654957208 | COL6A1 | c.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGG (n.804+162_804+163insGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGG)
| gnomAD v4 |
| 21 | g.45987810_45987833dup | CA2654957209 | COL6A1 | c.804+156_804+179dup (n.804+156_804+179dup)
| gnomAD v4 |
| 21 | g.45987810_45987833del | CA638177914 | COL6A1 | c.804+156_804+179del (n.804+156_804+179del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987980del | CA638177916 | COL6A1 | c.804+140_804+326del (n.804+140_804+326del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987794_45987980delinsGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC | CA2392432263 | COL6A1 | c.804+140_804+326delinsGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC (n.804+140_804+326delinsGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC)
| |
| 21 | g.45987817_45988026del | CA638177917 | COL6A1 | c.804+163_804+372del (n.804+163_804+372del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987811_45987812insTCGGGGCTCCAGATGGAGGGGACG | CA2654957212 | COL6A1 | c.804+157_804+158insTCGGGGCTCCAGATGGAGGGGACG (n.804+157_804+158insTCGGGGCTCCAGATGGAGGGGACG)
| gnomAD v4 |
| 21 | g.45987834_45988019del | CA638177918 | COL6A1 | c.804+180_804+365del (n.804+180_804+365del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987796_45987837del | CA2654957216 | COL6A1 | c.804+142_804+183del (n.804+142_804+183del)
| gnomAD v4 |
| 21 | g.45987797_45987837del | CA2654957213 | COL6A1 | c.804+143_804+183del (n.804+143_804+183del)
| gnomAD v4 |
| 21 | g.45987796_45987839del | CA2654957217 | COL6A1 | c.804+142_804+185del (n.804+142_804+185del)
| gnomAD v4 |
| 21 | g.45987796_45987860del | CA2654957215 | COL6A1 | c.804+142_804+206del (n.804+142_804+206del)
| gnomAD v4 |
| 21 | g.45987797_45987818del | CA2654957218 | COL6A1 | c.804+143_804+164del (n.804+143_804+164del)
| gnomAD v4 |
| 21 | g.45987797_45987841del | CA2654957219 | COL6A1 | c.804+143_804+187del (n.804+143_804+187del)
| gnomAD v4 |
| 21 | g.45987800_45987841del | CA2654957222 | COL6A1 | c.804+146_804+187del (n.804+146_804+187del)
| gnomAD v4 |
| 21 | g.45987800_45987933del | CA638177920 | COL6A1 | c.804+146_804+279del (n.804+146_804+279del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987800_45987820del | CA2654957223 | COL6A1 | c.804+146_804+166del (n.804+146_804+166del)
| gnomAD v4 |
| 21 | g.45987800_45987847del | CA2654957224 | COL6A1 | c.804+146_804+193del (n.804+146_804+193del)
| gnomAD v4 |
| 21 | g.45987800_45987980del | CA2818096947 | COL6A1 | c.804+146_804+326del (n.804+146_804+326del)
| |
| 21 | g.45987802G= | CA2392432268 | COL6A1 | c.804+148G= (n.804+148G=)
| |
| 21 | g.45987802G>T | CA2392432269 | COL6A1 | c.804+148G>T (n.804+148G>T)
| dbSNP |
| 21 | g.45987803G>A | CA749828075 | COL6A1 | c.804+149G>A (n.804+149G>A)
| dbSNP |
| 21 | g.45987803G= | CA2392432270 | COL6A1 | c.804+149G= (n.804+149G=)
| |
| 21 | g.45987803G>T | CA638177921 | COL6A1 | c.804+149G>T (n.804+149G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987804_45987818del | CA2654957225 | COL6A1 | c.804+150_804+164del (n.804+150_804+164del)
| gnomAD v4 |
| 21 | g.45987804A>G | CA1022878162 | COL6A1 | c.804+150A>G (n.804+150A>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987804A>T | CA2818096949 | COL6A1 | c.804+150A>T (n.804+150A>T)
| |
| 21 | g.45987805G>A | CA749828084 | COL6A1 | c.804+151G>A (n.804+151G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987805G= | CA2392432271 | COL6A1 | c.804+151G= (n.804+151G=)
| |
| 21 | g.45987806G>T | CA2654957226 | COL6A1 | c.804+152G>T (n.804+152G>T)
| gnomAD v4 |
| 21 | g.45987809A>C | CA2737644049 | COL6A1 | c.804+155A>C (n.804+155A>C)
| dbSNP |
| 21 | g.45987809A>G | CA1022878166 | COL6A1 | c.804+155A>G (n.804+155A>G)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987810C= | CA2392432272 | COL6A1 | c.804+156C= (n.804+156C=)
| |
| 21 | g.45987810C>G | CA2392432273 | COL6A1 | c.804+156C>G (n.804+156C>G)
| dbSNP |
| 21 | g.45987810C>T | CA321960305 | COL6A1 | c.804+156C>T (n.804+156C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987810_45987834delinsCGGCGGGAGTCCAGATGGAGGGGAT | CA2392432274 | COL6A1 | c.804+156_804+180delinsCGGCGGGAGTCCAGATGGAGGGGAT (n.804+156_804+180delinsCGGCGGGAGTCCAGATGGAGGGGAT)
| |
| 21 | g.45987810_45987903delinsCGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT | CA2392432275 | COL6A1 | c.804+156_804+249delinsCGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT (n.804+156_804+249delinsCGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT)
| |
| 21 | g.45987811G>A | CA638177923 | COL6A1 | c.804+157G>A (n.804+157G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987811G= | CA2392432276 | COL6A1 | c.804+157G= (n.804+157G=)
| |
| 21 | g.45987817_45987840del | CA638177922 | COL6A1 | c.804+163_804+186del (n.804+163_804+186del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45987909del | CA1022878171 | COL6A1 | c.804+163_804+255del (n.804+163_804+255del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987812G= | CA2392432277 | COL6A1 | c.804+158G= (n.804+158G=)
| |
| 21 | g.45987812G>T | CA638177924 | COL6A1 | c.804+158G>T (n.804+158G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987813C= | CA2392432279 | COL6A1 | c.804+159C= (n.804+159C=)
| |
| 21 | g.45987813C>T | CA749828096 | COL6A1 | c.804+159C>T (n.804+159C>T)
| dbSNP |
| 21 | g.45987813_45987814delinsCG | CA2392432278 | COL6A1 | c.804+159_804+160delinsCG (n.804+159_804+160delinsCG)
| |
| 21 | g.45987813_45987828delinsCGGGAGTCCAGATGGA | CA2392432280 | COL6A1 | c.804+159_804+174delinsCGGGAGTCCAGATGGA (n.804+159_804+174delinsCGGGAGTCCAGATGGA)
| |
| 21 | g.45987817_45987978del | CA1022878176 | COL6A1 | c.804+163_804+324del (n.804+163_804+324del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987814G>A | CA638177925 | COL6A1 | c.804+160G>A (n.804+160G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987814G= | CA2392432282 | COL6A1 | c.804+160G= (n.804+160G=)
| |
| 21 | g.45987814G>T | CA2566900753 | COL6A1 | c.804+160G>T (n.804+160G>T)
| |
| 21 | g.45987816del | CA749828100 | COL6A1 | c.804+162del (n.804+162del)
| dbSNP |
| 21 | g.45987814_45987824delinsGGGAGTCCAGA | CA2392432281 | COL6A1 | c.804+160_804+170delinsGGGAGTCCAGA (n.804+160_804+170delinsGGGAGTCCAGA)
| |
| 21 | g.45987817_45987831del | CA2392432283 | COL6A1 | c.804+163_804+177del (n.804+163_804+177del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45987854del | CA2818096950 | COL6A1 | c.804+163_804+200del (n.804+163_804+200del)
| |
| 21 | g.45987814_45987815insT | CA1022878180 | COL6A1 | c.804+160_804+161insT (n.804+160_804+161insT)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987815G= | CA2392432285 | COL6A1 | c.804+161G= (n.804+161G=)
| |
| 21 | g.45987815G>T | CA638177926 | COL6A1 | c.804+161G>T (n.804+161G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987816_45987817insGACGGCGG | CA2392432284 | COL6A1 | c.804+162_804+163insGACGGCGG (n.804+162_804+163insGACGGCGG)
| dbSNP |
| 21 | g.45987815_45987824del | CA1022878182 | COL6A1 | c.804+161_804+170del (n.804+161_804+170del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987819_45988108del | CA1139596665 | COL6A1 | c.804+165_804+454del (n.804+165_804+454del)
| |
| 21 | g.45987816_45987817delinsGA | CA2392432286 | COL6A1 | c.804+162_804+163delinsGA (n.804+162_804+163delinsGA)
| |
| 21 | g.45987816_45987825delinsGAGTCCAGAT | CA2392432287 | COL6A1 | c.804+162_804+171delinsGAGTCCAGAT (n.804+162_804+171delinsGAGTCCAGAT)
| |
| 21 | g.45987817_45987835del | CA1022878188 | COL6A1 | c.804+163_804+181del (n.804+163_804+181del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987816_45988003delinsGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432288 | COL6A1 | c.804+162_804+349delinsGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+162_804+349delinsGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987817del | CA321960311 | COL6A1 | c.804+163del (n.804+163del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987817A= | CA2392432293 | COL6A1 | c.804+163A= (n.804+163A=)
| |
| 21 | g.45987817A>G | CA638177927 | COL6A1 | c.804+163A>G (n.804+163A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45987825del | CA1022878190 | COL6A1 | c.804+163_804+171del (n.804+163_804+171del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45987840delinsAGTCCAGATGGAGGGGATGGCGGG | CA2392432292 | COL6A1 | c.804+163_804+186delinsAGTCCAGATGGAGGGGATGGCGGG (n.804+163_804+186delinsAGTCCAGATGGAGGGGATGGCGGG)
| |
| 21 | g.45987817_45987909delinsAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGG | CA2392432290 | COL6A1 | c.804+163_804+255delinsAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGG (n.804+163_804+255delinsAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGG)
| |
| 21 | g.45987817_45987932delinsAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGG | CA2392432291 | COL6A1 | c.804+163_804+278delinsAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGG (n.804+163_804+278delinsAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGG)
| |
| 21 | g.45987817_45988003del | CA914670030 | COL6A1 | c.804+163_804+349del (n.804+163_804+349del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45988049delinsAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGG | CA2392432289 | COL6A1 | c.804+163_804+395delinsAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGG (n.804+163_804+395delinsAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGG)
| |
| 21 | g.45987818G>C | CA638177929 | COL6A1 | c.804+164G>C (n.804+164G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987818G= | CA2392432296 | COL6A1 | c.804+164G= (n.804+164G=)
| |
| 21 | g.45987818G>T | CA749828118 | COL6A1 | c.804+164G>T (n.804+164G>T)
| dbSNP |
| 21 | g.45987834_45987856del | CA638177928 | COL6A1 | c.804+180_804+202del (n.804+180_804+202del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987834_45987879del | CA1022878194 | COL6A1 | c.804+180_804+225del (n.804+180_804+225del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987834_45987925del | CA1022878199 | COL6A1 | c.804+180_804+271del (n.804+180_804+271del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987834_45987948del | CA638177930 | COL6A1 | c.804+180_804+294del (n.804+180_804+294del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987903_45987971del | CA1022878200 | COL6A1 | c.804+249_804+317del (n.804+249_804+317del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987818_45987980delinsGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC | CA2392432295 | COL6A1 | c.804+164_804+326delinsGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC (n.804+164_804+326delinsGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC)
| |
| 21 | g.45987818_45988003delinsGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432294 | COL6A1 | c.804+164_804+349delinsGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+164_804+349delinsGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987834_45988065del | CA1022878196 | COL6A1 | c.804+180_804+411del (n.804+180_804+411del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987819T>A | CA1022878207 | COL6A1 | c.804+165T>A (n.804+165T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987819T>C | CA749828125 | COL6A1 | c.804+165T>C (n.804+165T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987819T>G | CA1022878208 | COL6A1 | c.804+165T>G (n.804+165T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987819T= | CA2392432297 | COL6A1 | c.804+165T= (n.804+165T=)
| |
| 21 | g.45987834_45987995del | CA1022878205 | COL6A1 | c.804+180_804+341del (n.804+180_804+341del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987819_45988003del | CA1022878206 | COL6A1 | c.804+165_804+349del (n.804+165_804+349del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987820C= | CA2392432298 | COL6A1 | c.804+166C= (n.804+166C=)
| |
| 21 | g.45987820C>T | CA749828126 | COL6A1 | c.804+166C>T (n.804+166C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987825T>G | CA1022878212 | COL6A1 | c.804+171T>G (n.804+171T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987826_45988003delinsGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432299 | COL6A1 | c.804+172_804+349delinsGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+172_804+349delinsGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987827G>C | CA2591412439 | COL6A1 | c.804+173G>C (n.804+173G>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987827G= | CA2392432301 | COL6A1 | c.804+173G= (n.804+173G=)
| |
| 21 | g.45987827G>T | CA321960316 | COL6A1 | c.804+173G>T (n.804+173G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987827_45987980delinsGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC | CA2392432300 | COL6A1 | c.804+173_804+326delinsGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC (n.804+173_804+326delinsGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC)
| |
| 21 | g.45987828_45988004del | CA1022878216 | COL6A1 | c.804+174_804+350del (n.804+174_804+350del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987828A>G | CA1022878218 | COL6A1 | c.804+174A>G (n.804+174A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987828_45987980del | CA1022878217 | COL6A1 | c.804+174_804+326del (n.804+174_804+326del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987829G>A | CA749828129 | COL6A1 | c.804+175G>A (n.804+175G>A)
| dbSNP |
| 21 | g.45987829G= | CA2392432302 | COL6A1 | c.804+175G= (n.804+175G=)
| |
| 21 | g.45987830G>C | CA2392432304 | COL6A1 | c.804+176G>C (n.804+176G>C)
| dbSNP |
| 21 | g.45987830G= | CA2392432303 | COL6A1 | c.804+176G= (n.804+176G=)
| |
| 21 | g.45987834T>A | CA749828135 | COL6A1 | c.804+180T>A (n.804+180T>A)
| dbSNP |
| 21 | g.45987834T>C | CA321960325 | COL6A1 | c.804+180T>C (n.804+180T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987834T>G | CA749828136 | COL6A1 | c.804+180T>G (n.804+180T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987834T= | CA2392432305 | COL6A1 | c.804+180T= (n.804+180T=)
| |
| 21 | g.45987834_45987836del | CA1022878222 | COL6A1 | c.804+180_804+182del (n.804+180_804+182del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987835G>A | CA749828141 | COL6A1 | c.804+181G>A (n.804+181G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987835G= | CA2392432306 | COL6A1 | c.804+181G= (n.804+181G=)
| |
| 21 | g.45987836_45987841del | CA2591412440 | COL6A1 | c.804+182_804+187del (n.804+182_804+187del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987880_45987902del | CA1022878224 | COL6A1 | c.804+226_804+248del (n.804+226_804+248del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987882_45987973del | CA2818096955 | COL6A1 | c.804+228_804+319del (n.804+228_804+319del)
| |
| 21 | g.45987836_45987973del | CA638177931 | COL6A1 | c.804+182_804+319del (n.804+182_804+319del)
| gnomAD v2 |
| 21 | g.45987836G= | CA2392432307 | COL6A1 | c.804+182G= (n.804+182G=)
| |
| 21 | g.45987836G>T | CA638177932 | COL6A1 | c.804+182G>T (n.804+182G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987837C= | CA2392432308 | COL6A1 | c.804+183C= (n.804+183C=)
| |
| 21 | g.45987837C>G | CA2392432310 | COL6A1 | c.804+183C>G (n.804+183C>G)
| dbSNP |
| 21 | g.45987837C>T | CA749828148 | COL6A1 | c.804+183C>T (n.804+183C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987837_45987851delinsCGGGGTCCAGATGGA | CA2392432309 | COL6A1 | c.804+183_804+197delinsCGGGGTCCAGATGGA (n.804+183_804+197delinsCGGGGTCCAGATGGA)
| |
| 21 | g.45987838G>A | CA749828162 | COL6A1 | c.804+184G>A (n.804+184G>A)
| dbSNP |
| 21 | g.45987838G= | CA2392432311 | COL6A1 | c.804+184G= (n.804+184G=)
| |
| 21 | g.45987838_45987841del | CA2591412441 | COL6A1 | c.804+184_804+187del (n.804+184_804+187del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987841dup | CA749828151 | COL6A1 | c.804+187dup (n.804+187dup)
| dbSNP |
| 21 | g.45987842_45987855del | CA749828153 | COL6A1 | c.804+188_804+201del (n.804+188_804+201del)
| dbSNP |
| 21 | g.45987840_45987905del | CA1022878228 | COL6A1 | c.804+186_804+251del (n.804+186_804+251del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987838_45988004del | CA1022878229 | COL6A1 | c.804+184_804+350del (n.804+184_804+350del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987839G= | CA2392432312 | COL6A1 | c.804+185G= (n.804+185G=)
| |
| 21 | g.45987839G>T | CA321960330 | COL6A1 | c.804+185G>T (n.804+185G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987840G>A | CA2392432315 | COL6A1 | c.804+186G>A (n.804+186G>A)
| dbSNP |
| 21 | g.45987840G= | CA2392432313 | COL6A1 | c.804+186G= (n.804+186G=)
| |
| 21 | g.45987840G>T | CA2392432314 | COL6A1 | c.804+186G>T (n.804+186G>T)
| dbSNP |
| 21 | g.45987840_45987841insA | CA638177933 | COL6A1 | c.804+186_804+187insA (n.804+186_804+187insA)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987841G>A | CA2392432317 | COL6A1 | c.804+187G>A (n.804+187G>A)
| dbSNP |
| 21 | g.45987841G>C | CA749828163 | COL6A1 | c.804+187G>C (n.804+187G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987841G= | CA2392432316 | COL6A1 | c.804+187G= (n.804+187G=)
| |
| 21 | g.45987841_45987844del | CA1022878233 | COL6A1 | c.804+187_804+190del (n.804+187_804+190del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987841_45987842insC | CA638177934 | COL6A1 | c.804+187_804+188insC (n.804+187_804+188insC)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987842T>A | CA1022878236 | COL6A1 | c.804+188T>A (n.804+188T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987842T>C | CA2392432319 | COL6A1 | c.804+188T>C (n.804+188T>C)
| dbSNP |
| 21 | g.45987842T>G | CA749828170 | COL6A1 | c.804+188T>G (n.804+188T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987842T= | CA2392432318 | COL6A1 | c.804+188T= (n.804+188T=)
| |
| 21 | g.45987843C= | CA2392432320 | COL6A1 | c.804+189C= (n.804+189C=)
| |
| 21 | g.45987843C>T | CA321960333 | COL6A1 | c.804+189C>T (n.804+189C>T)
| dbSNP |
| 21 | g.45987844_45987929del | CA2818096963 | COL6A1 | c.804+190_804+275del (n.804+190_804+275del)
| |
| 21 | g.45987844_45988046del | CA2591412445 | COL6A1 | c.804+190_804+392del (n.804+190_804+392del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987845A= | CA2392432322 | COL6A1 | c.804+191A= (n.804+191A=)
| |
| 21 | g.45987845A>T | CA2392432321 | COL6A1 | c.804+191A>T (n.804+191A>T)
| dbSNP |
| 21 | g.45987848T>G | CA749828176 | COL6A1 | c.804+194T>G (n.804+194T>G)
| dbSNP |
| 21 | g.45987848T= | CA2392432323 | COL6A1 | c.804+194T= (n.804+194T=)
| |
| 21 | g.45987850G= | CA2392432324 | COL6A1 | c.804+196G= (n.804+196G=)
| |
| 21 | g.45987850G>T | CA749828177 | COL6A1 | c.804+196G>T (n.804+196G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987851A= | CA2392432325 | COL6A1 | c.804+197A= (n.804+197A=)
| |
| 21 | g.45987851A>G | CA2392432326 | COL6A1 | c.804+197A>G (n.804+197A>G)
| dbSNP |
| 21 | g.45987852G>A | CA749828179 | COL6A1 | c.804+198G>A (n.804+198G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987852G= | CA2392432327 | COL6A1 | c.804+198G= (n.804+198G=)
| |
| 21 | g.45987853G>A | CA2392432329 | COL6A1 | c.804+199G>A (n.804+199G>A)
| dbSNP |
| 21 | g.45987853G= | CA2392432328 | COL6A1 | c.804+199G= (n.804+199G=)
| |
| 21 | g.45987855G>T | CA2818096966 | COL6A1 | c.804+201G>T (n.804+201G>T)
| |
| 21 | g.45987856A= | CA2392432330 | COL6A1 | c.804+202A= (n.804+202A=)
| |
| 21 | g.45987856A>G | CA749828182 | COL6A1 | c.804+202A>G (n.804+202A>G)
| dbSNP |
| 21 | g.45987857C= | CA2392432331 | COL6A1 | c.804+203C= (n.804+203C=)
| |
| 21 | g.45987857C>T | CA638177935 | COL6A1 | c.804+203C>T (n.804+203C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987858G>A | CA2392432333 | COL6A1 | c.804+204G>A (n.804+204G>A)
| dbSNP |
| 21 | g.45987858G= | CA2392432332 | COL6A1 | c.804+204G= (n.804+204G=)
| |
| 21 | g.45987859G= | CA2392432334 | COL6A1 | c.804+205G= (n.804+205G=)
| |
| 21 | g.45987859G>T | CA638177937 | COL6A1 | c.804+205G>T (n.804+205G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987860C= | CA2392432335 | COL6A1 | c.804+206C= (n.804+206C=)
| |
| 21 | g.45987860C>G | CA2392432336 | COL6A1 | c.804+206C>G (n.804+206C>G)
| dbSNP |
| 21 | g.45987860C>T | CA749828192 | COL6A1 | c.804+206C>T (n.804+206C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987860_45987874delinsCGGGGTCCAGATGGA | CA2392432337 | COL6A1 | c.804+206_804+220delinsCGGGGTCCAGATGGA (n.804+206_804+220delinsCGGGGTCCAGATGGA)
| |
| 21 | g.45987860_45987861insA | CA2392432338 | COL6A1 | c.804+206_804+207insA (n.804+206_804+207insA)
| dbSNP |
| 21 | g.45987861G>A | CA2392432340 | COL6A1 | c.804+207G>A (n.804+207G>A)
| dbSNP |
| 21 | g.45987861G= | CA2392432339 | COL6A1 | c.804+207G= (n.804+207G=)
| |
| 21 | g.45987864dup | CA321960339 | COL6A1 | c.804+210dup (n.804+210dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987865_45987878del | CA749828201 | COL6A1 | c.804+211_804+224del (n.804+211_804+224del)
| dbSNP |
| 21 | g.45987862G= | CA2392432341 | COL6A1 | c.804+208G= (n.804+208G=)
| |
| 21 | g.45987862G>T | CA321960343 | COL6A1 | c.804+208G>T (n.804+208G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987863G= | CA2392432342 | COL6A1 | c.804+209G= (n.804+209G=)
| |
| 21 | g.45987863G>T | CA2392432343 | COL6A1 | c.804+209G>T (n.804+209G>T)
| dbSNP |
| 21 | g.45987863_45987864insA | CA749828203 | COL6A1 | c.804+209_804+210insA (n.804+209_804+210insA)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987864G>A | CA2392432345 | COL6A1 | c.804+210G>A (n.804+210G>A)
| dbSNP |
| 21 | g.45987864G>C | CA749828211 | COL6A1 | c.804+210G>C (n.804+210G>C)
| dbSNP |
| 21 | g.45987864G= | CA2392432344 | COL6A1 | c.804+210G= (n.804+210G=)
| |
| 21 | g.45987864_45987980delinsGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC | CA2392432346 | COL6A1 | c.804+210_804+326delinsGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC (n.804+210_804+326delinsGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC)
| |
| 21 | g.45987864_45988003delinsGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432347 | COL6A1 | c.804+210_804+349delinsGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+210_804+349delinsGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 21 | g.45987903_45988042del | CA2818096973 | COL6A1 | c.804+249_804+388del (n.804+249_804+388del)
| |
| 21 | g.45987864_45987865insC | CA638177940 | COL6A1 | c.804+210_804+211insC (n.804+210_804+211insC)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987865T>A | CA2392432349 | COL6A1 | c.804+211T>A (n.804+211T>A)
| dbSNP |
| 21 | g.45987865T>C | CA2818096977 | COL6A1 | c.804+211T>C (n.804+211T>C)
| |
| 21 | g.45987865T>G | CA2392432350 | COL6A1 | c.804+211T>G (n.804+211T>G)
| dbSNP |
| 21 | g.45987865T= | CA2392432348 | COL6A1 | c.804+211T= (n.804+211T=)
| |
| 21 | g.45987865_45987868del | CA1022878246 | COL6A1 | c.804+211_804+214del (n.804+211_804+214del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987887_45988002del | CA638177939 | COL6A1 | c.804+233_804+348del (n.804+233_804+348del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987865_45988003del | CA1022878250 | COL6A1 | c.804+211_804+349del (n.804+211_804+349del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987866C= | CA2392432352 | COL6A1 | c.804+212C= (n.804+212C=)
| |
| 21 | g.45987866C>T | CA2392432351 | COL6A1 | c.804+212C>T (n.804+212C>T)
| dbSNP |
| 21 | g.45987868A= | CA2392432353 | COL6A1 | c.804+214A= (n.804+214A=)
| |
| 21 | g.45987868A>G | CA2392432354 | COL6A1 | c.804+214A>G (n.804+214A>G)
| dbSNP |
| 21 | g.45987870A>C | CA1022878254 | COL6A1 | c.804+216A>C (n.804+216A>C)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987870_45987871insGATCGGAAGAGCACACGTCTGAACTCCAGTCACA | CA2830658175 | COL6A1 | c.804+216_804+217insGATCGGAAGAGCACACGTCTGAACTCCAGTCACA (n.804+216_804+217insGATCGGAAGAGCACACGTCTGAACTCCAGTCACA)
| |
| 21 | g.45987870_45987980del | CA1022878253 | COL6A1 | c.804+216_804+326del (n.804+216_804+326del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987871T>A | CA1022878255 | COL6A1 | c.804+217T>A (n.804+217T>A)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987871T>C | CA1022878256 | COL6A1 | c.804+217T>C (n.804+217T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987871T>G | CA2392432356 | COL6A1 | c.804+217T>G (n.804+217T>G)
| dbSNP |
| 21 | g.45987871T= | CA2392432355 | COL6A1 | c.804+217T= (n.804+217T=)
| |
| 21 | g.45987873G>A | CA749828219 | COL6A1 | c.804+219G>A (n.804+219G>A)
| dbSNP |
| 21 | g.45987873G= | CA2392432357 | COL6A1 | c.804+219G= (n.804+219G=)
| |
| 21 | g.45987873G>T | CA749828226 | COL6A1 | c.804+219G>T (n.804+219G>T)
| dbSNP |
| 21 | g.45987874A= | CA2392432358 | COL6A1 | c.804+220A= (n.804+220A=)
| |
| 21 | g.45987874A>C | CA749828230 | COL6A1 | c.804+220A>C (n.804+220A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987874A>G | CA2392432359 | COL6A1 | c.804+220A>G (n.804+220A>G)
| dbSNP |
| 21 | g.45987875G>A | CA749828234 | COL6A1 | c.804+221G>A (n.804+221G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987875G= | CA2392432361 | COL6A1 | c.804+221G= (n.804+221G=)
| |
| 21 | g.45987875G>T | CA2392432360 | COL6A1 | c.804+221G>T (n.804+221G>T)
| dbSNP |
| 21 | g.45987875_45987876insCGGACGCCG | CA2818096986 | COL6A1 | c.804+221_804+222insCGGACGCCG (n.804+221_804+222insCGGACGCCG)
| |
| 21 | g.45987879_45987880insGGGCGGGGA | CA2818096985 | COL6A1 | c.804+225_804+226insGGGCGGGGA (n.804+225_804+226insGGGCGGGGA)
| |
| 21 | g.45987880_45987881insAGCGGGGAC | CA2818096987 | COL6A1 | c.804+226_804+227insAGCGGGGAC (n.804+226_804+227insAGCGGGGAC)
| |
| 21 | g.45987879_45987887dup | CA920320849 | COL6A1 | c.804+225_804+233dup (n.804+225_804+233dup)
| dbSNP |
| 21 | g.45987878G= | CA2392432363 | COL6A1 | c.804+224G= (n.804+224G=)
| |
| 21 | g.45987878G>T | CA2392432362 | COL6A1 | c.804+224G>T (n.804+224G>T)
| dbSNP |
| 21 | g.45987879A= | CA2392432364 | COL6A1 | c.804+225A= (n.804+225A=)
| |
| 21 | g.45987879A>G | CA2392432365 | COL6A1 | c.804+225A>G (n.804+225A>G)
| dbSNP |
| 21 | g.45987880C= | CA2392432366 | COL6A1 | c.804+226C= (n.804+226C=)
| |
| 21 | g.45987880C>T | CA749828237 | COL6A1 | c.804+226C>T (n.804+226C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987881G>A | CA2392432368 | COL6A1 | c.804+227G>A (n.804+227G>A)
| dbSNP |
| 21 | g.45987881G= | CA2392432367 | COL6A1 | c.804+227G= (n.804+227G=)
| |
| 21 | g.45987903_45987925del | CA1022878260 | COL6A1 | c.804+249_804+271del (n.804+249_804+271del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987882G= | CA2392432369 | COL6A1 | c.804+228G= (n.804+228G=)
| |
| 21 | g.45987882G>T | CA321960348 | COL6A1 | c.804+228G>T (n.804+228G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987882_45987974delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT | CA2392432370 | COL6A1 | c.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT (n.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT)
| |
| 21 | g.45987883C= | CA2392432371 | COL6A1 | c.804+229C= (n.804+229C=)
| |
| 21 | g.45987883C>T | CA2392432372 | COL6A1 | c.804+229C>T (n.804+229C>T)
| dbSNP |
| 21 | g.45987888_45987979del | CA1022878261 | COL6A1 | c.804+234_804+325del (n.804+234_804+325del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987883_45987884insA | CA749828245 | COL6A1 | c.804+229_804+230insA (n.804+229_804+230insA)
| dbSNP |
| 21 | g.45987887dup | CA749828243 | COL6A1 | c.804+233dup (n.804+233dup)
| dbSNP |
| 21 | g.45987884_45987893del | CA2818096990 | COL6A1 | c.804+230_804+239del (n.804+230_804+239del)
| |
| 21 | g.45987885G= | CA2392432373 | COL6A1 | c.804+231G= (n.804+231G=)
| |
| 21 | g.45987885G>T | CA749828248 | COL6A1 | c.804+231G>T (n.804+231G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987885_45987893del | CA2737644329 | COL6A1 | c.804+231_804+239del (n.804+231_804+239del)
| dbSNP |
| 21 | g.45987888_45987955del | CA1022878264 | COL6A1 | c.804+234_804+301del (n.804+234_804+301del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987886G= | CA2392432374 | COL6A1 | c.804+232G= (n.804+232G=)
| |
| 21 | g.45987886_45987890delinsGGTCC | CA2392432375 | COL6A1 | c.804+232_804+236delinsGGTCC (n.804+232_804+236delinsGGTCC)
| |
| 21 | g.45987886_45987887insA | CA321960354 | COL6A1 | c.804+232_804+233insA (n.804+232_804+233insA)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987887G>C | CA2818096992 | COL6A1 | c.804+233G>C (n.804+233G>C)
| |
| 21 | g.45987887G= | CA2392432376 | COL6A1 | c.804+233G= (n.804+233G=)
| |
| 21 | g.45987887G>T | CA321960350 | COL6A1 | c.804+233G>T (n.804+233G>T)
| dbSNP |
| 21 | g.45987887_45987890del | CA638177942 | COL6A1 | c.804+233_804+236del (n.804+233_804+236del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987887_45987983del | CA2511014030 | COL6A1 | c.804+233_804+329del (n.804+233_804+329del)
| |
| 21 | g.45987903_45988019del | CA2818096991 | COL6A1 | c.804+249_804+365del (n.804+249_804+365del)
| |
| 21 | g.45987887_45987888insC | CA749828258 | COL6A1 | c.804+233_804+234insC (n.804+233_804+234insC)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987887_45987888insACGGCGGGC | CA2818096994 | COL6A1 | c.804+233_804+234insACGGCGGGC (n.804+233_804+234insACGGCGGGC)
| |
| 21 | g.45987887_45987888insACGGCGGGT | CA2818096995 | COL6A1 | c.804+233_804+234insACGGCGGGT (n.804+233_804+234insACGGCGGGT)
| |
| 21 | g.45987888del | CA2572811148 | COL6A1 | c.804+234del (n.804+234del)
| |
| 21 | g.45987888T>G | CA2392432377 | COL6A1 | c.804+234T>G (n.804+234T>G)
| dbSNP |
| 21 | g.45987888T= | CA2392432378 | COL6A1 | c.804+234T= (n.804+234T=)
| |
| 21 | g.45987888_45987891del | CA2737644337 | COL6A1 | c.804+234_804+237del (n.804+234_804+237del)
| dbSNP |
| 21 | g.45987903_45987995del | CA1022878268 | COL6A1 | c.804+249_804+341del (n.804+249_804+341del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987890_45988004del | CA2548327483 | COL6A1 | c.804+236_804+350del (n.804+236_804+350del)
| |
| 21 | g.45987891A= | CA2392432379 | COL6A1 | c.804+237A= (n.804+237A=)
| |
| 21 | g.45987891A>C | CA2392432380 | COL6A1 | c.804+237A>C (n.804+237A>C)
| dbSNP |
| 21 | g.45987891_45987909delinsAGATGGAGGGGATGGCGGG | CA2392432381 | COL6A1 | c.804+237_804+255delinsAGATGGAGGGGATGGCGGG (n.804+237_804+255delinsAGATGGAGGGGATGGCGGG)
| |
| 21 | g.45987893_45987910del | CA1022878270 | COL6A1 | c.804+239_804+256del (n.804+239_804+256del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987893_45987933del | CA1022878272 | COL6A1 | c.804+239_804+279del (n.804+239_804+279del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987893_45987980del | CA638177943 | COL6A1 | c.804+239_804+326del (n.804+239_804+326del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987894T>G | CA2392432383 | COL6A1 | c.804+240T>G (n.804+240T>G)
| dbSNP |
| 21 | g.45987894T= | CA2392432382 | COL6A1 | c.804+240T= (n.804+240T=)
| |
| 21 | g.45987897_45987904del | CA2818096999 | COL6A1 | c.804+243_804+250del (n.804+243_804+250del)
| |
| 21 | g.45987897A= | CA2392432384 | COL6A1 | c.804+243A= (n.804+243A=)
| |
| 21 | g.45987897A>G | CA2392432385 | COL6A1 | c.804+243A>G (n.804+243A>G)
| dbSNP |
| 21 | g.45987899G>A | CA2392432387 | COL6A1 | c.804+245G>A (n.804+245G>A)
| dbSNP |
| 21 | g.45987899G>C | CA749828260 | COL6A1 | c.804+245G>C (n.804+245G>C)
| dbSNP |
| 21 | g.45987899G= | CA2392432386 | COL6A1 | c.804+245G= (n.804+245G=)
| |
| 21 | g.45987900G>A | CA2392432389 | COL6A1 | c.804+246G>A (n.804+246G>A)
| dbSNP |
| 21 | g.45987900G= | CA2392432388 | COL6A1 | c.804+246G= (n.804+246G=)
| |
| 21 | g.45987900_45987901insA | CA2818097000 | COL6A1 | c.804+246_804+247insA (n.804+246_804+247insA)
| |
| 21 | g.45987902_45990422del | CA2573320392 | COL6A1 | c.804+248_1002del
| |
