| 17 | g.50198433_50199305delinsA | CA2573131850 | COL1A1 | c.392_543delinsT
| |
| 17 | g.50198909A= | CA2263920467 | COL1A1 | c.471+317T= (n.471+317T=)
| |
| 17 | g.50198909A>C | CA772776234 | COL1A1 | c.471+317T>G (n.471+317T>G)
| dbSNP |
| 17 | g.50198910G>A | CA2263920469 | COL1A1 | c.471+316C>T (n.471+316C>T)
| dbSNP |
| 17 | g.50198910G= | CA2263920468 | COL1A1 | c.471+316C= (n.471+316C=)
| |
| 17 | g.50198911A= | CA2263920470 | COL1A1 | c.471+315T= (n.471+315T=)
| |
| 17 | g.50198911A>G | CA984451706 | COL1A1 | c.471+315T>C (n.471+315T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198913T>A | CA2733682586 | COL1A1 | c.471+313A>T (n.471+313A>T)
| dbSNP |
| 17 | g.50198913T>C | CA2263920472 | COL1A1 | c.471+313A>G (n.471+313A>G)
| dbSNP |
| 17 | g.50198913T= | CA2263920471 | COL1A1 | c.471+313A= (n.471+313A=)
| |
| 17 | g.50198923C= | CA2263920473 | COL1A1 | c.471+303G= (n.471+303G=)
| |
| 17 | g.50198923C>T | CA984451709 | COL1A1 | c.471+303G>A (n.471+303G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198927G>A | CA2809770986 | COL1A1 | c.471+299C>T (n.471+299C>T)
| |
| 17 | g.50198930T>C | CA984451711 | COL1A1 | c.471+296A>G (n.471+296A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198930T= | CA2263920474 | COL1A1 | c.471+296A= (n.471+296A=)
| |
| 17 | g.50198932G>A | CA984451714 | COL1A1 | c.471+294C>T (n.471+294C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198932G= | CA2263920475 | COL1A1 | c.471+294C= (n.471+294C=)
| |
| 17 | g.50198933G>A | CA984451716 | COL1A1 | c.471+293C>T (n.471+293C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198933G= | CA2263920476 | COL1A1 | c.471+293C= (n.471+293C=)
| |
| 17 | g.50198936A= | CA2263920477 | COL1A1 | c.471+290T= (n.471+290T=)
| |
| 17 | g.50198936A>C | CA291550148 | COL1A1 | c.471+290T>G (n.471+290T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198946A= | CA2263920478 | COL1A1 | c.471+280T= (n.471+280T=)
| |
| 17 | g.50198946A>C | CA626486238 | COL1A1 | c.471+280T>G (n.471+280T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198949C= | CA2263920479 | COL1A1 | c.471+277G= (n.471+277G=)
| |
| 17 | g.50198949C>T | CA291550152 | COL1A1 | c.471+277G>A (n.471+277G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198951_50198953delinsCTT | CA2263920480 | COL1A1 | c.471+273_471+275delinsAAG (n.471+273_471+275delinsAAG)
| |
| 17 | g.50198952T>C | CA984451720 | COL1A1 | c.471+274A>G (n.471+274A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198952T= | CA2263920481 | COL1A1 | c.471+274A= (n.471+274A=)
| |
| 17 | g.50198952_50198953del | CA919856729 | COL1A1 | c.471+273_471+274del (n.471+273_471+274del)
| dbSNP |
| 17 | g.50198953T>C | CA2263920483 | COL1A1 | c.471+273A>G (n.471+273A>G)
| dbSNP |
| 17 | g.50198953T= | CA2263920482 | COL1A1 | c.471+273A= (n.471+273A=)
| |
| 17 | g.50198965A>C | CA2733839745 | COL1A1 | c.471+261T>G (n.471+261T>G)
| dbSNP |
| 17 | g.50198968C= | CA2263920484 | COL1A1 | c.471+258G= (n.471+258G=)
| |
| 17 | g.50198968C>T | CA2263920485 | COL1A1 | c.471+258G>A (n.471+258G>A)
| dbSNP |
| 17 | g.50198971A= | CA2263920486 | COL1A1 | c.471+255T= (n.471+255T=)
| |
| 17 | g.50198971A>C | CA2263920487 | COL1A1 | c.471+255T>G (n.471+255T>G)
| dbSNP |
| 17 | g.50198972C= | CA2263920488 | COL1A1 | c.471+254G= (n.471+254G=)
| |
| 17 | g.50198972C>T | CA2263920489 | COL1A1 | c.471+254G>A (n.471+254G>A)
| dbSNP |
| 17 | g.50198973C= | CA2263920490 | COL1A1 | c.471+253G= (n.471+253G=)
| |
| 17 | g.50198973C>T | CA291550157 | COL1A1 | c.471+253G>A (n.471+253G>A)
| dbSNP |
| 17 | g.50198974_50198990delinsTAAGTATTTAGGCGCAA | CA2263920491 | COL1A1 | c.471+236_471+252delinsTTGCGCCTAAATACTTA (n.471+236_471+252delinsTTGCGCCTAAATACTTA)
| |
| 17 | g.50198978_50198993del | CA772776240 | COL1A1 | c.471+236_471+251del (n.471+236_471+251del)
| dbSNP |
| 17 | g.50198977G>A | CA772776243 | COL1A1 | c.471+249C>T (n.471+249C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198977G= | CA2263920493 | COL1A1 | c.471+249C= (n.471+249C=)
| |
| 17 | g.50198977_50198981delinsGTATT | CA2263920492 | COL1A1 | c.471+245_471+249delinsAATAC (n.471+245_471+249delinsAATAC)
| |
| 17 | g.50198980_50198983del | CA772776247 | COL1A1 | c.471+245_471+248del (n.471+245_471+248del)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198982T>C | CA291550160 | COL1A1 | c.471+244A>G (n.471+244A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198982T= | CA2263920494 | COL1A1 | c.471+244A= (n.471+244A=)
| |
| 17 | g.50198986C= | CA2263920495 | COL1A1 | c.471+240G= (n.471+240G=)
| |
| 17 | g.50198986C>T | CA2263920496 | COL1A1 | c.471+240G>A (n.471+240G>A)
| dbSNP |
| 17 | g.50198987G>A | CA291550175 | COL1A1 | c.471+239C>T (n.471+239C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198987G= | CA2263920497 | COL1A1 | c.471+239C= (n.471+239C=)
| |
| 17 | g.50198987G>T | CA291550170 | COL1A1 | c.471+239C>A (n.471+239C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198989A= | CA2263920498 | COL1A1 | c.471+237T= (n.471+237T=)
| |
| 17 | g.50198989A>G | CA291550178 | COL1A1 | c.471+237T>C (n.471+237T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198989A>T | CA984451724 | COL1A1 | c.471+237T>A (n.471+237T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50198990A= | CA2263920499 | COL1A1 | c.471+236T= (n.471+236T=)
| |
| 17 | g.50198990A>G | CA2263920500 | COL1A1 | c.471+236T>C (n.471+236T>C)
| dbSNP |
| 17 | g.50198996C= | CA2263920501 | COL1A1 | c.471+230G= (n.471+230G=)
| |
| 17 | g.50198996C>T | CA626486242 | COL1A1 | c.471+230G>A (n.471+230G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198998T>C | CA291550181 | COL1A1 | c.471+228A>G (n.471+228A>G)
| dbSNP |
| 17 | g.50198998T>G | CA626486243 | COL1A1 | c.471+228A>C (n.471+228A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50198998T= | CA2263920502 | COL1A1 | c.471+228A= (n.471+228A=)
| |
| 17 | g.50199003T>C | CA291550183 | COL1A1 | c.471+223A>G (n.471+223A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50199003T= | CA2263920503 | COL1A1 | c.471+223A= (n.471+223A=)
| |
| 17 | g.50199005A= | CA2263920504 | COL1A1 | c.471+221T= (n.471+221T=)
| |
| 17 | g.50199005A>G | CA291550185 | COL1A1 | c.471+221T>C (n.471+221T>C)
| dbSNP |
| 17 | g.50199008A= | CA2263920505 | COL1A1 | c.471+218T= (n.471+218T=)
| |
| 17 | g.50199008A>G | CA772776259 | COL1A1 | c.471+218T>C (n.471+218T>C)
| dbSNP |
