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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50198433_50199305delinsA | CA2573131850 | COL1A1 | c.392_543delinsT | |
| 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) | |
| 17 | g.50199035A= | CA2263920523 | COL1A1 | c.471+191T= (n.471+191T=) | |
| 17 | g.50199035A>G | CA291550249 | COL1A1 | c.471+191T>C (n.471+191T>C) | dbSNP |
| 17 | g.50199037_50199043delinsGATACAT | CA2263920524 | COL1A1 | c.471+183_471+189delinsATGTATC (n.471+183_471+189delinsATGTATC) | |
| 17 | g.50199045_50199050del | CA291550269 | COL1A1 | c.471+183_471+188del (n.471+183_471+188del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50199039T>C | CA291550271 | COL1A1 | c.471+187A>G (n.471+187A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50199039T= | CA2263920525 | COL1A1 | c.471+187A= (n.471+187A=) | |
| 17 | g.50199043T>C | CA2538719946 | COL1A1 | c.471+183A>G (n.471+183A>G) | |
| 17 | g.50199049T>C | CA291550279 | COL1A1 | c.471+177A>G (n.471+177A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50199049T= | CA2263920526 | COL1A1 | c.471+177A= (n.471+177A=) | |
| 17 | g.50199050A= | CA2263920527 | COL1A1 | c.471+176T= (n.471+176T=) | |
| 17 | g.50199050A>G | CA772776315 | COL1A1 | c.471+176T>C (n.471+176T>C) | dbSNP |
| 17 | g.50199053C= | CA2263920528 | COL1A1 | c.471+173G= (n.471+173G=) | |
| 17 | g.50199053C>T | CA772776316 | COL1A1 | c.471+173G>A (n.471+173G>A) | dbSNP |
| 17 | g.50199067G>A | CA2263920530 | COL1A1 | c.471+159C>T (n.471+159C>T) | dbSNP |
| 17 | g.50199067G= | CA2263920529 | COL1A1 | c.471+159C= (n.471+159C=) | |
| 17 | g.50199071A= | CA2263920531 | COL1A1 | c.471+155T= (n.471+155T=) | |
| 17 | g.50199071A>G | CA291550284 | COL1A1 | c.471+155T>C (n.471+155T>C) | dbSNP |
| 17 | g.50199073G>C | CA291550285 | COL1A1 | c.471+153C>G (n.471+153C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50199073G= | CA2263920532 | COL1A1 | c.471+153C= (n.471+153C=) | |
| 17 | g.50199075C>A | CA2638681101 | COL1A1 | c.471+151G>T (n.471+151G>T) | gnomAD v4 |
| 17 | g.50199075C>T | CA2809770988 | COL1A1 | c.471+151G>A (n.471+151G>A) | |
| 17 | g.50199076A= | CA2263920533 | COL1A1 | c.471+150T= (n.471+150T=) | |
| 17 | g.50199076A>G | CA291550286 | COL1A1 | c.471+150T>C (n.471+150T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50199077C>T | CA2638681107 | COL1A1 | c.471+149G>A (n.471+149G>A) | gnomAD v4 |