| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50198433_50199305delinsA | CA2573131850 | COL1A1 | c.392_543delinsT | |
| 17 | g.50199229T>A | CA500852133 | COL1A1 | c.468A>T (p.Gly156=) | |
| 17 | g.50199229T>C | CA500852134 | COL1A1 | c.468A>G (p.Gly156=) | dbSNP |
| 17 | g.50199229T>G | CA500852135 | COL1A1 | c.468A>C (p.Gly156=) | |
| 17 | g.50199229T= | CA2263920587 | COL1A1 | c.468A= (p.Gly156=) | |
| 17 | g.50199230C>A | CA400227225 | COL1A1 | c.467G>T (p.Gly156Val) | |
| 17 | g.50199230C>G | CA400227227 | COL1A1 | c.467G>C (p.Gly156Ala) | |
| 17 | g.50199230C>T | CA400227230 | COL1A1 | c.467G>A (p.Gly156Glu) | gnomAD v4 |
| 17 | g.50199231C>A | CA400227234 | COL1A1 | c.466G>T (p.Gly156Ter) | gnomAD v4 |
| 17 | g.50199231C= | CA2263920588 | COL1A1 | c.466G= (p.Gly156=) | |
| 17 | g.50199231C>G | CA400227236 | COL1A1 | c.466G>C (p.Gly156Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50199231C>T | CA8645698 | COL1A1 | c.466G>A (p.Gly156Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50199232G>A | CA500852136 | COL1A1 | c.465C>T (p.Leu155=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50199232G>C | CA500852137 | COL1A1 | c.465C>G (p.Leu155=) | |
| 17 | g.50199232G= | CA2263920589 | COL1A1 | c.465C= (p.Leu155=) | |
| 17 | g.50199232G>T | CA500852138 | COL1A1 | c.465C>A (p.Leu155=) | gnomAD v4 |
| 17 | g.50199236_50199252del | CA2695226552 | COL1A1 | c.449_465del (p.Pro150ArgfsTer13) | |
| 17 | g.50199233A>C | CA400227240 | COL1A1 | c.464T>G (p.Leu155Arg) | |
| 17 | g.50199233A>G | CA400227242 | COL1A1 | c.464T>C (p.Leu155Pro) | |
| 17 | g.50199233A>T | CA400227245 | COL1A1 | c.464T>A (p.Leu155His) | |
| 17 | g.50199234G>A | CA400227247 | COL1A1 | c.463C>T (p.Leu155Phe) | |
| 17 | g.50199234G>C | CA400227249 | COL1A1 | c.463C>G (p.Leu155Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50199234G= | CA2263920590 | COL1A1 | c.463C= (p.Leu155=) | |
| 17 | g.50199234G>T | CA400227252 | COL1A1 | c.463C>A (p.Leu155Ile) | |
| 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>C | CA500852139 | COL1A1 | c.462C>G (p.Gly154=) | |
| 17 | g.50199235G= | CA2263920591 | COL1A1 | c.462C= (p.Gly154=) | |
| 17 | g.50199235G>T | CA500852140 | COL1A1 | c.462C>A (p.Gly154=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50199236C>A | CA400227255 | COL1A1 | c.461G>T (p.Gly154Val) | |
| 17 | g.50199236C>G | CA400227258 | COL1A1 | c.461G>C (p.Gly154Ala) | |
| 17 | g.50199236C>T | CA400227256 | COL1A1 | c.461G>A (p.Gly154Asp) | |
| 17 | g.50199237C>A | CA400227260 | COL1A1 | c.460G>T (p.Gly154Cys) | |
| 17 | g.50199237C>G | CA400227263 | COL1A1 | c.460G>C (p.Gly154Arg) | |
| 17 | g.50199237C>T | CA400227266 | COL1A1 | c.460G>A (p.Gly154Ser) | 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.50199238A= | CA2263920595 | COL1A1 | c.459T= (p.Pro153=) | |
| 17 | g.50199238A>C | CA500852143 | COL1A1 | c.459T>G (p.Pro153=) | gnomAD v4 |
| 17 | g.50199238A>G | CA500852141 | COL1A1 | c.459T>C (p.Pro153=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50199238A>T | CA500852142 | COL1A1 | c.459T>A (p.Pro153=) | COSMIC |
| 17 | g.50199238_50199239delinsAG | CA2263920593 | COL1A1 | c.458_459delinsCT (p.Pro153=) | |
| 17 | g.50199238_50199256delinsAGGGGGTCCGGGAGGTCCG | CA2263920594 | COL1A1 | c.441_459delinsCGGACCTCCCGGACCCCCT (p.Pro147=) | |
| 17 | g.50199239G>A | CA400227274 | COL1A1 | c.458C>T (p.Pro153Leu) | gnomAD v4 |
| 17 | g.50199239G>C | CA400227276 | COL1A1 | c.458C>G (p.Pro153Arg) | |
| 17 | g.50199239G>T | CA400227275 | COL1A1 | c.458C>A (p.Pro153His) | gnomAD v4 |
| 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 |