17 | g.50198433_50199305delinsA | CA2573131850 | COL1A1 | c.392_543delinsT
| |
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 |
17 | g.50199013G>A | CA772776260 | COL1A1 | c.471+213C>T (n.471+213C>T)
| dbSNP |
17 | g.50199013G= | CA2263920506 | COL1A1 | c.471+213C= (n.471+213C=)
| |
17 | g.50199015T>C | CA2263920508 | COL1A1 | c.471+211A>G (n.471+211A>G)
| dbSNP |
17 | g.50199015T= | CA2263920507 | COL1A1 | c.471+211A= (n.471+211A=)
| |
17 | g.50199019A= | CA2263920509 | COL1A1 | c.471+207T= (n.471+207T=)
| |
17 | g.50199019A>G | CA772776262 | COL1A1 | c.471+207T>C (n.471+207T>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199020C>A | CA626486244 | COL1A1 | c.471+206G>T (n.471+206G>T)
| gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199021A= | CA2263920510 | COL1A1 | c.471+205T= (n.471+205T=)
| |
17 | g.50199021A>C | CA772776272 | COL1A1 | c.471+205T>G (n.471+205T>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199021A>G | CA291550189 | COL1A1 | c.471+205T>C (n.471+205T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199022G>A | CA626486248 | COL1A1 | c.471+204C>T (n.471+204C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199022G= | CA2263920511 | COL1A1 | c.471+204C= (n.471+204C=)
| |
17 | g.50199022_50199025del | CA626486245 | COL1A1 | c.471+201_471+204del (n.471+201_471+204del)
| gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199023T>A | CA2595039661 | COL1A1 | c.471+203A>T (n.471+203A>T)
| gnomAD v3 gnomAD v4 |
17 | g.50199024T>A | CA291550194 | COL1A1 | c.471+202A>T (n.471+202A>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199024T= | CA2263920512 | COL1A1 | c.471+202A= (n.471+202A=)
| |
17 | g.50199025C>A | CA984451730 | COL1A1 | c.471+201G>T (n.471+201G>T)
| gnomAD v3 gnomAD v4 |
17 | g.50199025C= | CA2263920513 | COL1A1 | c.471+201G= (n.471+201G=)
| |
17 | g.50199025_50199026delinsCA | CA2263920514 | COL1A1 | c.471+200_471+201delinsTG (n.471+200_471+201delinsTG)
| |
17 | g.50199026del | CA2263920515 | COL1A1 | c.471+200del (n.471+200del)
| dbSNP |
17 | g.50199026A= | CA2263920516 | COL1A1 | c.471+200T= (n.471+200T=)
| |
17 | g.50199026A>C | CA291550199 | COL1A1 | c.471+200T>G (n.471+200T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199026A>G | CA772776294 | COL1A1 | c.471+200T>C (n.471+200T>C)
| dbSNP |
17 | g.50199026_50199027insAAAA | CA626486249 | COL1A1 | c.471+200_471+201insTTTT (n.471+200_471+201insTTTT)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199027G>A | CA626486250 | COL1A1 | c.471+199C>T (n.471+199C>T)
| gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199027_50199029delinsGAA | CA2263920517 | COL1A1 | c.471+197_471+199delinsTTC (n.471+197_471+199delinsTTC)
| |
17 | g.50199028A= | CA2263920518 | COL1A1 | c.471+198T= (n.471+198T=)
| |
17 | g.50199028A>G | CA626486252 | COL1A1 | c.471+198T>C (n.471+198T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199028A>T | CA2263920519 | COL1A1 | c.471+198T>A (n.471+198T>A)
| dbSNP |
17 | g.50199036dup | CA291550237 | COL1A1 | c.471+198dup (n.471+198dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199036del | CA291550246 | COL1A1 | c.471+198del (n.471+198del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199035_50199036del | CA772776305 | COL1A1 | c.471+197_471+198del (n.471+197_471+198del)
| dbSNP |
17 | g.50199029A= | CA2263920520 | COL1A1 | c.471+197T= (n.471+197T=)
| |
17 | g.50199029A>G | CA2263920521 | COL1A1 | c.471+197T>C (n.471+197T>C)
| dbSNP |
17 | g.50199031A= | CA2263920522 | COL1A1 | c.471+195T= (n.471+195T=)
| |
17 | g.50199031A>G | CA291550247 | COL1A1 | c.471+195T>C (n.471+195T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199032A>G | CA2809770987 | COL1A1 | c.471+194T>C (n.471+194T>C)
| |