| 21 | g.45987508_45988380del | CA2580098894 | COL6A1 | c.748_805-704del
| ClinVar |
| 21 | g.45987769_45988002del | CA2818096906 | COL6A1 | c.804+115_804+348del (n.804+115_804+348del)
| |
| 21 | g.45987765_45988130del | CA1139635882 | COL6A1 | c.804+111_804+476del (n.804+111_804+476del)
| |
| 21 | g.45987766_45987906delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC | CA2392432221 | COL6A1 | c.804+112_804+252delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC (n.804+112_804+252delinsGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGC)
| |
| 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.45987769_45988003delinsGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432227 | COL6A1 | c.804+115_804+349delinsGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+115_804+349delinsGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 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.45987773_45988004del | CA1022878023 | COL6A1 | c.804+119_804+350del (n.804+119_804+350del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987786_45987903delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT | CA2392432238 | COL6A1 | c.804+132_804+249delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT (n.804+132_804+249delinsCGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT)
| |
| 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.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.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_45988003delinsGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432257 | COL6A1 | c.804+138_804+349delinsGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+138_804+349delinsGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 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.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.45987834_45988019del | CA638177918 | COL6A1 | c.804+180_804+365del (n.804+180_804+365del)
| dbSNP gnomAD v2 gnomAD v3 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_45987980del | CA2818096947 | COL6A1 | c.804+146_804+326del (n.804+146_804+326del)
| |
| 21 | g.45987810_45987903delinsCGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT | CA2392432275 | COL6A1 | c.804+156_804+249delinsCGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT (n.804+156_804+249delinsCGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAT)
| |
| 21 | g.45987817_45987909del | CA1022878171 | COL6A1 | c.804+163_804+255del (n.804+163_804+255del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987817_45987978del | CA1022878176 | COL6A1 | c.804+163_804+324del (n.804+163_804+324del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987819_45988108del | CA1139596665 | COL6A1 | c.804+165_804+454del (n.804+165_804+454del)
| |
| 21 | g.45987816_45988003delinsGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432288 | COL6A1 | c.804+162_804+349delinsGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+162_804+349delinsGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 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.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.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.45987826_45988003delinsGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA | CA2392432299 | COL6A1 | c.804+172_804+349delinsGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA (n.804+172_804+349delinsGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA)
| |
| 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.45987828_45987980del | CA1022878217 | COL6A1 | c.804+174_804+326del (n.804+174_804+326del)
| dbSNP 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.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.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.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.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.45987870_45987980del | CA1022878253 | COL6A1 | c.804+216_804+326del (n.804+216_804+326del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987903_45987925del | CA1022878260 | COL6A1 | c.804+249_804+271del (n.804+249_804+271del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987882_45987974delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT | CA2392432370 | COL6A1 | c.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT (n.804+228_804+320delinsGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGT)
| |
| 21 | g.45987888_45987979del | CA1022878261 | COL6A1 | c.804+234_804+325del (n.804+234_804+325del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987888_45987955del | CA1022878264 | COL6A1 | c.804+234_804+301del (n.804+234_804+301del)
| 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.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.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.45987897_45987904del | CA2818096999 | COL6A1 | c.804+243_804+250del (n.804+243_804+250del)
| |
| 21 | g.45987902_45990422del | CA2573320392 | COL6A1 | c.804+248_1002del
| |
| 21 | g.45987903T>A | CA2818097001 | COL6A1 | c.804+249T>A (n.804+249T>A)
| |
| 21 | g.45987903T>C | CA321960360 | COL6A1 | c.804+249T>C (n.804+249T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987903T>G | CA2392432392 | COL6A1 | c.804+249T>G (n.804+249T>G)
| dbSNP |
| 21 | g.45987903T= | CA2392432390 | COL6A1 | c.804+249T= (n.804+249T=)
| |
| 21 | g.45987903_45987905del | CA1022878276 | COL6A1 | c.804+249_804+251del (n.804+249_804+251del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987903_45987972delinsTGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAC | CA2392432391 | COL6A1 | c.804+249_804+318delinsTGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAC (n.804+249_804+318delinsTGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAC)
| |
| 21 | g.45987903_45987904insC | CA2818097004 | COL6A1 | c.804+249_804+250insC (n.804+249_804+250insC)
| |
| 21 | g.45987905_45987910del | CA1022878277 | COL6A1 | c.804+251_804+256del (n.804+251_804+256del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987951_45987973del | CA1022878283 | COL6A1 | c.804+297_804+319del (n.804+297_804+319del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987905_45987973del | CA1022878282 | COL6A1 | c.804+251_804+319del (n.804+251_804+319del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987951_45988090del | CA1022878280 | COL6A1 | c.804+297_804+436del (n.804+297_804+436del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987928_45988090del | CA2518979164 | COL6A1 | c.804+274_804+436del (n.804+274_804+436del)
| |
| 21 | g.45987905_45988090del | CA1022878278 | COL6A1 | c.804+251_804+436del (n.804+251_804+436del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987905G= | CA2392432393 | COL6A1 | c.804+251G= (n.804+251G=)
| |
| 21 | g.45987905G>T | CA321960364 | COL6A1 | c.804+251G>T (n.804+251G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987905_45987906insAAGAGCACACGTCTGAACG | CA2818097005 | COL6A1 | c.804+251_804+252insAAGAGCACACGTCTGAACG (n.804+251_804+252insAAGAGCACACGTCTGAACG)
| |
| 21 | g.45987906C= | CA2392432394 | COL6A1 | c.804+252C= (n.804+252C=)
| |
| 21 | g.45987906C>G | CA749828261 | COL6A1 | c.804+252C>G (n.804+252C>G)
| dbSNP |
| 21 | g.45987906C>T | CA749828264 | COL6A1 | c.804+252C>T (n.804+252C>T)
| dbSNP |
| 21 | g.45987907G>A | CA2392432396 | COL6A1 | c.804+253G>A (n.804+253G>A)
| dbSNP |
| 21 | g.45987907G= | CA2392432395 | COL6A1 | c.804+253G= (n.804+253G=)
| |
| 21 | g.45987907_45987910del | CA2818097008 | COL6A1 | c.804+253_804+256del (n.804+253_804+256del)
| |
| 21 | g.45987910dup | CA749828267 | COL6A1 | c.804+256dup (n.804+256dup)
| dbSNP |
| 21 | g.45987908G= | CA2392432397 | COL6A1 | c.804+254G= (n.804+254G=)
| |
| 21 | g.45987908G>T | CA749828268 | COL6A1 | c.804+254G>T (n.804+254G>T)
| dbSNP |
| 21 | g.45987909G>A | CA2392432399 | COL6A1 | c.804+255G>A (n.804+255G>A)
| dbSNP |
| 21 | g.45987909G= | CA2392432398 | COL6A1 | c.804+255G= (n.804+255G=)
| |
| 21 | g.45987909_45987974del | CA1022878287 | COL6A1 | c.804+255_804+320del (n.804+255_804+320del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987909_45987910insA | CA321960365 | COL6A1 | c.804+255_804+256insA (n.804+255_804+256insA)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987909_45987910insT | CA2818097010 | COL6A1 | c.804+255_804+256insT (n.804+255_804+256insT)
| |
| 21 | g.45987910G>C | CA2392432400 | COL6A1 | c.804+256G>C (n.804+256G>C)
| dbSNP |
| 21 | g.45987910G= | CA2392432401 | COL6A1 | c.804+256G= (n.804+256G=)
| |
| 21 | g.45987910_45987911insA | CA2818097011 | COL6A1 | c.804+256_804+257insA (n.804+256_804+257insA)
| |
| 21 | g.45987910_45987911insC | CA512711333 | COL6A1 | c.804+256_804+257insC (n.804+256_804+257insC)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987911T>C | CA2392432404 | COL6A1 | c.804+257T>C (n.804+257T>C)
| dbSNP |
| 21 | g.45987911T>G | CA2392432402 | COL6A1 | c.804+257T>G (n.804+257T>G)
| dbSNP |
| 21 | g.45987911T= | CA2392432403 | COL6A1 | c.804+257T= (n.804+257T=)
| |
| 21 | g.45987911dup | CA2818097012 | COL6A1 | c.804+257dup (n.804+257dup)
| |
| 21 | g.45987913_45987952del | CA1022878290 | COL6A1 | c.804+259_804+298del (n.804+259_804+298del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987913C= | CA2392432405 | COL6A1 | c.804+259C= (n.804+259C=)
| |
| 21 | g.45987913C>G | CA2392432406 | COL6A1 | c.804+259C>G (n.804+259C>G)
| dbSNP |
| 21 | g.45987914A>C | CA2818097014 | COL6A1 | c.804+260A>C (n.804+260A>C)
| |
| 21 | g.45987916A>C | CA2534184734 | COL6A1 | c.804+262A>C (n.804+262A>C)
| |
| 21 | g.45987917T>G | CA2392432408 | COL6A1 | c.804+263T>G (n.804+263T>G)
| dbSNP |
| 21 | g.45987917T= | CA2392432407 | COL6A1 | c.804+263T= (n.804+263T=)
| |
| 21 | g.45987919G= | CA2392432409 | COL6A1 | c.804+265G= (n.804+265G=)
| |
| 21 | g.45987919G>T | CA749828277 | COL6A1 | c.804+265G>T (n.804+265G>T)
| dbSNP |
| 21 | g.45987920A= | CA2392432410 | COL6A1 | c.804+266A= (n.804+266A=)
| |
| 21 | g.45987920A>G | CA2392432411 | COL6A1 | c.804+266A>G (n.804+266A>G)
| dbSNP |
| 21 | g.45987921G>A | CA749828281 | COL6A1 | c.804+267G>A (n.804+267G>A)
| dbSNP |
| 21 | g.45987921G= | CA2392432412 | COL6A1 | c.804+267G= (n.804+267G=)
| |
| 21 | g.45987921G>T | CA2392432413 | COL6A1 | c.804+267G>T (n.804+267G>T)
| dbSNP |
| 21 | g.45987925_45987956del | CA2818097016 | COL6A1 | c.804+271_804+302del (n.804+271_804+302del)
| |
| 21 | g.45987925A= | CA2392432415 | COL6A1 | c.804+271A= (n.804+271A=)
| |
| 21 | g.45987925A>G | CA2392432414 | COL6A1 | c.804+271A>G (n.804+271A>G)
| dbSNP |
| 21 | g.45987926C= | CA2392432416 | COL6A1 | c.804+272C= (n.804+272C=)
| |
| 21 | g.45987926C>T | CA749828286 | COL6A1 | c.804+272C>T (n.804+272C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987927G= | CA2392432417 | COL6A1 | c.804+273G= (n.804+273G=)
| |
| 21 | g.45987927G>T | CA2392432418 | COL6A1 | c.804+273G>T (n.804+273G>T)
| dbSNP |
| 21 | g.45987928G= | CA2392432419 | COL6A1 | c.804+274G= (n.804+274G=)
| |
| 21 | g.45987928G>T | CA321960366 | COL6A1 | c.804+274G>T (n.804+274G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987929C= | CA2392432420 | COL6A1 | c.804+275C= (n.804+275C=)
| |
| 21 | g.45987929C>G | CA2392432421 | COL6A1 | c.804+275C>G (n.804+275C>G)
| dbSNP |
| 21 | g.45987929C>T | CA2818097019 | COL6A1 | c.804+275C>T (n.804+275C>T)
| |
| 21 | g.45987934_45987979del | CA1022878295 | COL6A1 | c.804+280_804+325del (n.804+280_804+325del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987933dup | CA749828290 | COL6A1 | c.804+279dup (n.804+279dup)
| dbSNP |
| 21 | g.45987930_45987939delinsGGGGTCCAGA | CA2392432422 | COL6A1 | c.804+276_804+285delinsGGGGTCCAGA (n.804+276_804+285delinsGGGGTCCAGA)
| |
| 21 | g.45987931G= | CA2392432423 | COL6A1 | c.804+277G= (n.804+277G=)
| |
| 21 | g.45987931G>T | CA321960374 | COL6A1 | c.804+277G>T (n.804+277G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987931_45987939del | CA1022878299 | COL6A1 | c.804+277_804+285del (n.804+277_804+285del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987932G= | CA2392432424 | COL6A1 | c.804+278G= (n.804+278G=)
| |
| 21 | g.45987932_45987933insAG | CA321960381 | COL6A1 | c.804+278_804+279insAG (n.804+278_804+279insAG)
| dbSNP |
| 21 | g.45987932_45987933insA | CA749828292 | COL6A1 | c.804+278_804+279insA (n.804+278_804+279insA)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987933G>A | CA2392432427 | COL6A1 | c.804+279G>A (n.804+279G>A)
| dbSNP |
| 21 | g.45987933G>C | CA2818097023 | COL6A1 | c.804+279G>C (n.804+279G>C)
| |
| 21 | g.45987933G= | CA2392432425 | COL6A1 | c.804+279G= (n.804+279G=)
| |
| 21 | g.45987933_45987934insCG | CA321960385 | COL6A1 | c.804+279_804+280insCG (n.804+279_804+280insCG)
| dbSNP |
| 21 | g.45987933_45987936del | CA2818097022 | COL6A1 | c.804+279_804+282del (n.804+279_804+282del)
| |
| 21 | g.45987933_45987980delinsGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC | CA2392432426 | COL6A1 | c.804+279_804+326delinsGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC (n.804+279_804+326delinsGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC)
| |
| 21 | g.45987933_45987934insC | CA321960390 | COL6A1 | c.804+279_804+280insC (n.804+279_804+280insC)
| dbSNP |
| 21 | g.45987934T>G | CA1022878304 | COL6A1 | c.804+280T>G (n.804+280T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987934T= | CA2392432428 | COL6A1 | c.804+280T= (n.804+280T=)
| |
| 21 | g.45987956_45988002del | CA749828298 | COL6A1 | c.804+302_804+348del (n.804+302_804+348del)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987939A>C | CA2818097029 | COL6A1 | c.804+285A>C (n.804+285A>C)
| |
| 21 | g.45987939_45987980del | CA2818097028 | COL6A1 | c.804+285_804+326del (n.804+285_804+326del)
| |
| 21 | g.45987940T>C | CA2392432430 | COL6A1 | c.804+286T>C (n.804+286T>C)
| dbSNP |
| 21 | g.45987940T>G | CA2392432431 | COL6A1 | c.804+286T>G (n.804+286T>G)
| dbSNP |
| 21 | g.45987940T= | CA2392432429 | COL6A1 | c.804+286T= (n.804+286T=)
| |
| 21 | g.45987942G>A | CA2818097032 | COL6A1 | c.804+288G>A (n.804+288G>A)
| |
| 21 | g.45987943_45988004del | CA1022878305 | COL6A1 | c.804+289_804+350del (n.804+289_804+350del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987943A= | CA2392432432 | COL6A1 | c.804+289A= (n.804+289A=)
| |
| 21 | g.45987943A>C | CA2392432433 | COL6A1 | c.804+289A>C (n.804+289A>C)
| dbSNP |
| 21 | g.45987943A>G | CA2392432434 | COL6A1 | c.804+289A>G (n.804+289A>G)
| dbSNP |
| 21 | g.45987948_45987956dup | CA920320853 | COL6A1 | c.804+294_804+302dup (n.804+294_804+302dup)
| dbSNP |
| 21 | g.45987945G= | CA2392432435 | COL6A1 | c.804+291G= (n.804+291G=)
| |
| 21 | g.45987945G>T | CA2392432436 | COL6A1 | c.804+291G>T (n.804+291G>T)
| dbSNP |
| 21 | g.45987948A>C | CA2818097033 | COL6A1 | c.804+294A>C (n.804+294A>C)
| |
| 21 | g.45987949C>A | CA2392432438 | COL6A1 | c.804+295C>A (n.804+295C>A)
| dbSNP |
| 21 | g.45987949C= | CA2392432437 | COL6A1 | c.804+295C= (n.804+295C=)
| |
| 21 | g.45987949C>T | CA749828301 | COL6A1 | c.804+295C>T (n.804+295C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987951G= | CA2392432439 | COL6A1 | c.804+297G= (n.804+297G=)
| |
| 21 | g.45987951G>T | CA749828305 | COL6A1 | c.804+297G>T (n.804+297G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987952C= | CA2392432440 | COL6A1 | c.804+298C= (n.804+298C=)
| |
| 21 | g.45987952C>T | CA2392432441 | COL6A1 | c.804+298C>T (n.804+298C>T)
| dbSNP |
| 21 | g.45987953G>A | CA749828309 | COL6A1 | c.804+299G>A (n.804+299G>A)
| dbSNP |
| 21 | g.45987953G= | CA2392432442 | COL6A1 | c.804+299G= (n.804+299G=)
| |
| 21 | g.45987956dup | CA749828310 | COL6A1 | c.804+302dup (n.804+302dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987954G= | CA2392432443 | COL6A1 | c.804+300G= (n.804+300G=)
| |
| 21 | g.45987954G>T | CA749828316 | COL6A1 | c.804+300G>T (n.804+300G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987955G= | CA2392432444 | COL6A1 | c.804+301G= (n.804+301G=)
| |
| 21 | g.45987955_45987956insA | CA1022878309 | COL6A1 | c.804+301_804+302insA (n.804+301_804+302insA)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987956G>A | CA2818097035 | COL6A1 | c.804+302G>A (n.804+302G>A)
| |
| 21 | g.45987956G= | CA2392432446 | COL6A1 | c.804+302G= (n.804+302G=)
| |
| 21 | g.45987956_45987980delinsGTCCAGATGGAGGGGACGTCGGGGC | CA2392432445 | COL6A1 | c.804+302_804+326delinsGTCCAGATGGAGGGGACGTCGGGGC (n.804+302_804+326delinsGTCCAGATGGAGGGGACGTCGGGGC)
| |
| 21 | g.45987956_45987957insC | CA749828322 | COL6A1 | c.804+302_804+303insC (n.804+302_804+303insC)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987957T>C | CA2818097039 | COL6A1 | c.804+303T>C (n.804+303T>C)
| |
| 21 | g.45987957T>G | CA2392432448 | COL6A1 | c.804+303T>G (n.804+303T>G)
| dbSNP |
| 21 | g.45987957T= | CA2392432447 | COL6A1 | c.804+303T= (n.804+303T=)
| |
| 21 | g.45987974_45987997del | CA749828324 | COL6A1 | c.804+320_804+343del (n.804+320_804+343del)
| dbSNP |
| 21 | g.45987974_45988114del | CA2818097037 | COL6A1 | c.804+320_804+460del (n.804+320_804+460del)
| |
| 21 | g.45987960A>C | CA2818097041 | COL6A1 | c.804+306A>C (n.804+306A>C)
| |
| 21 | g.45987962A= | CA2392432450 | COL6A1 | c.804+308A= (n.804+308A=)
| |
| 21 | g.45987962A>C | CA2392432449 | COL6A1 | c.804+308A>C (n.804+308A>C)
| dbSNP |
| 21 | g.45987962A>G | CA2818097042 | COL6A1 | c.804+308A>G (n.804+308A>G)
| |
| 21 | g.45987963T>G | CA2392432452 | COL6A1 | c.804+309T>G (n.804+309T>G)
| dbSNP |
| 21 | g.45987963T= | CA2392432451 | COL6A1 | c.804+309T= (n.804+309T=)
| |
| 21 | g.45987966A= | CA2392432453 | COL6A1 | c.804+312A= (n.804+312A=)
| |
| 21 | g.45987966A>G | CA2392432454 | COL6A1 | c.804+312A>G (n.804+312A>G)
| dbSNP |
| 21 | g.45987969G>C | CA2392432456 | COL6A1 | c.804+315G>C (n.804+315G>C)
| dbSNP |
| 21 | g.45987969G= | CA2392432455 | COL6A1 | c.804+315G= (n.804+315G=)
| |
| 21 | g.45987972C>A | CA2818097045 | COL6A1 | c.804+318C>A (n.804+318C>A)
| |
| 21 | g.45987972C= | CA2392432457 | COL6A1 | c.804+318C= (n.804+318C=)
| |
| 21 | g.45987972C>G | CA2392432458 | COL6A1 | c.804+318C>G (n.804+318C>G)
| dbSNP |
| 21 | g.45987972C>T | CA321960394 | COL6A1 | c.804+318C>T (n.804+318C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45987974T>G | CA321960399 | COL6A1 | c.804+320T>G (n.804+320T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987974T= | CA2392432459 | COL6A1 | c.804+320T= (n.804+320T=)
| |
| 21 | g.45987974_45987975del | CA913084388 | COL6A1 | c.804+320_804+321del (n.804+320_804+321del)
| |
| 21 | g.45987975C= | CA2392432461 | COL6A1 | c.804+321C= (n.804+321C=)
| |
| 21 | g.45987975C>T | CA2392432460 | COL6A1 | c.804+321C>T (n.804+321C>T)
| dbSNP |
| 21 | g.45987979_45988002dup | CA920320854 | COL6A1 | c.804+325_804+348dup (n.804+325_804+348dup)
| dbSNP |
| 21 | g.45987976G>A | CA2392432463 | COL6A1 | c.804+322G>A (n.804+322G>A)
| dbSNP |
| 21 | g.45987976G= | CA2392432462 | COL6A1 | c.804+322G= (n.804+322G=)
| |
| 21 | g.45987979del | CA2818097046 | COL6A1 | c.804+325del (n.804+325del)
| |
| 21 | g.45987978_45987980delinsGGC | CA2392432464 | COL6A1 | c.804+324_804+326delinsGGC (n.804+324_804+326delinsGGC)
| |
| 21 | g.45987979G>A | CA2392432467 | COL6A1 | c.804+325G>A (n.804+325G>A)
| dbSNP |
| 21 | g.45987979G= | CA2392432466 | COL6A1 | c.804+325G= (n.804+325G=)
| |
| 21 | g.45987979_45987980del | CA920320855 | COL6A1 | c.804+325_804+326del (n.804+325_804+326del)
| dbSNP |
| 21 | g.45987979_45987980delinsA | CA920320856 | COL6A1 | c.804+325_804+326delinsA (n.804+325_804+326delinsA)
| dbSNP |
| 21 | g.45987979_45987980delinsGC | CA2392432465 | COL6A1 | c.804+325_804+326delinsGC (n.804+325_804+326delinsGC)
| |
| 21 | g.45987980del | CA749828336 | COL6A1 | c.804+326del (n.804+326del)
| dbSNP |
| 21 | g.45987980C>A | CA2818097050 | COL6A1 | c.804+326C>A (n.804+326C>A)
| |
| 21 | g.45987980C= | CA2392432469 | COL6A1 | c.804+326C= (n.804+326C=)
| |
| 21 | g.45987980C>G | CA749828333 | COL6A1 | c.804+326C>G (n.804+326C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987980_45987981delinsCT | CA2392432468 | COL6A1 | c.804+326_804+327delinsCT (n.804+326_804+327delinsCT)
| |
| 21 | g.45987980_45988004delinsCTCCAGATGGAGGGGACGGCGGGAG | CA2392432470 | COL6A1 | c.804+326_804+350delinsCTCCAGATGGAGGGGACGGCGGGAG (n.804+326_804+350delinsCTCCAGATGGAGGGGACGGCGGGAG)
| |
| 21 | g.45987981del | CA2392432471 | COL6A1 | c.804+327del (n.804+327del)
| dbSNP |
| 21 | g.45987981T>A | CA2818097052 | COL6A1 | c.804+327T>A (n.804+327T>A)
| |
| 21 | g.45988003_45988026del | CA749828343 | COL6A1 | c.804+349_804+372del (n.804+349_804+372del)
| dbSNP |
| 21 | g.45988003_45988072del | CA1022878315 | COL6A1 | c.804+349_804+418del (n.804+349_804+418del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987998_45988090del | CA1022878317 | COL6A1 | c.804+344_804+436del (n.804+344_804+436del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45987984A>C | CA2818097053 | COL6A1 | c.804+330A>C (n.804+330A>C)
| |
| 21 | g.45987987T>G | CA2392432473 | COL6A1 | c.804+333T>G (n.804+333T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987987T= | CA2392432472 | COL6A1 | c.804+333T= (n.804+333T=)
| |
| 21 | g.45987988G>A | CA2392432475 | COL6A1 | c.804+334G>A (n.804+334G>A)
| dbSNP |
| 21 | g.45987988G= | CA2392432474 | COL6A1 | c.804+334G= (n.804+334G=)
| |
| 21 | g.45987989G= | CA2392432476 | COL6A1 | c.804+335G= (n.804+335G=)
| |
| 21 | g.45987989G>T | CA749828354 | COL6A1 | c.804+335G>T (n.804+335G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.45987990del | CA2818097054 | COL6A1 | c.804+336del (n.804+336del)
| |
| 21 | g.45987990A= | CA2392432477 | COL6A1 | c.804+336A= (n.804+336A=)
| |
| 21 | g.45987990A>G | CA2392432478 | COL6A1 | c.804+336A>G (n.804+336A>G)
| dbSNP |
| 21 | g.45987992G>T | CA2818097056 | COL6A1 | c.804+338G>T (n.804+338G>T)
| |
| 21 | g.45987996C= | CA2392432479 | COL6A1 | c.804+342C= (n.804+342C=)
| |
| 21 | g.45987996C>G | CA2392432480 | COL6A1 | c.804+342C>G (n.804+342C>G)
| dbSNP |
| 21 | g.45987996C>T | CA749828359 | COL6A1 | c.804+342C>T (n.804+342C>T)
| dbSNP |
| 21 | g.45987997G>A | CA2392432482 | COL6A1 | c.804+343G>A (n.804+343G>A)
| dbSNP |
| 21 | g.45987997G= | CA2392432481 | COL6A1 | c.804+343G= (n.804+343G=)
| |
| 21 | g.45987998G= | CA2392432483 | COL6A1 | c.804+344G= (n.804+344G=)
| |
| 21 | g.45987998G>T | CA749828360 | COL6A1 | c.804+344G>T (n.804+344G>T)
| dbSNP |
| 21 | g.45987999C= | CA2392432484 | COL6A1 | c.804+345C= (n.804+345C=)
| |
| 21 | g.45987999C>T | CA749828361 | COL6A1 | c.804+345C>T (n.804+345C>T)
| dbSNP |
| 21 | g.45988003_45988095del | CA1022878318 | COL6A1 | c.804+349_804+441del (n.804+349_804+441del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45988000G= | CA2392432485 | COL6A1 | c.804+346G= (n.804+346G=)
| |
| 21 | g.45988000G>T | CA2392432486 | COL6A1 | c.804+346G>T (n.804+346G>T)
| dbSNP |
| 21 | g.45988003_45988017del | CA2818097059 | COL6A1 | c.804+349_804+363del (n.804+349_804+363del)
| |
| 21 | g.45988001G= | CA2392432487 | COL6A1 | c.804+347G= (n.804+347G=)
| |
| 21 | g.45988001G>T | CA321960400 | COL6A1 | c.804+347G>T (n.804+347G>T)
| dbSNP |
| 21 | g.45988003_45988025del | CA1022878319 | COL6A1 | c.804+349_804+371del (n.804+349_804+371del)
| gnomAD v3 gnomAD v4 |
| 21 | g.45988002_45988003delinsGA | CA2392432488 | COL6A1 | c.804+348_804+349delinsGA (n.804+348_804+349delinsGA)
| |
| 21 | g.45988003_45988021del | CA2818097060 | COL6A1 | c.804+349_804+367del (n.804+349_804+367del)
| |
