17 | g.50198433_50199305delinsA | CA2573131850 | COL1A1 | c.392_543delinsT
| |
17 | g.50199236_50199252del | CA2695226552 | COL1A1 | c.449_465del (p.Pro150ArgfsTer13)
| |
17 | g.50199244_50199315del | CA2638681625 | COL1A1 | c.392_463del (p.Arg131_Gly154del)
| gnomAD v4 |
17 | g.50199235G>A | CA8645699 | COL1A1 | c.462C>T (p.Gly154=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199235G>T | CA500852140 | COL1A1 | c.462C>A (p.Gly154=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199237_50199238delinsCA | CA2263920592 | COL1A1 | c.459_460delinsTG (p.Pro153=)
| |
17 | g.50199238del | CA291550343 | COL1A1 | c.459del (p.Gly154AlafsTer?)
| ClinVar dbSNP |
17 | g.50199238_50199239delinsAG | CA2263920593 | COL1A1 | c.458_459delinsCT (p.Pro153=)
| |
17 | g.50199238_50199256delinsAGGGGGTCCGGGAGGTCCG | CA2263920594 | COL1A1 | c.441_459delinsCGGACCTCCCGGACCCCCT (p.Pro147=)
| |
17 | g.50199243dup | CA645293910 | COL1A1 | c.458dup (p.Gly154TrpfsTer15)
| ClinVar dbSNP |
17 | g.50199243del | CA915950624 | COL1A1 | c.458del (p.Pro153LeufsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.50199250_50199267dup | CA2638681687 | COL1A1 | c.441_458dup (p.Pro153_Gly154insGlyProProGlyProPro)
| ClinVar gnomAD v4 |
17 | g.50199250_50199267del | CA500852144 | COL1A1 | c.441_458del (p.Gly148_Pro153del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199251_50199277del | CA2573154235 | COL1A1 | c.432_458del (p.Gly145_Pro153del)
| ClinVar dbSNP gnomAD v4 |
17 | g.50199241_50199250delinsGGGTCCGGGA | CA2263920596 | COL1A1 | c.447_456delinsTCCCGGACCC (p.Pro149=)
| |
17 | g.50199242G>T | CA400227283 | COL1A1 | c.455C>A (p.Pro152His)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199258_50199259insAGGTCCGGGAGGTCCGGG | CA626486269 | COL1A1 | c.455_456insTCCCGGACCTCCCGGACC (p.Pro152_Pro153insProGlyProProGlyPro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199250_50199258dup | CA2576317756 | COL1A1 | c.447_455dup (p.Pro152_Pro153insProGlyPro)
| gnomAD v4 |
17 | g.50199250_50199258del | CA626486268 | COL1A1 | c.447_455del (p.Pro150_Pro152del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199243G>T | CA400227288 | COL1A1 | c.454C>A (p.Pro152Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199244T>A | CA500852148 | COL1A1 | c.453A>T (p.Gly151=)
| dbSNP gnomAD v2 gnomAD v4 |