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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows 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 |
|---|---|---|---|---|---|
| 11 | g.68759318C>G | CA939164565 | CPT1A | c.2235+251G>C (n.2235+251G>C) c.2331+251G>C (n.2331+251G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759319C>G | CA2792552349 | CPT1A | c.2235+250G>C (n.2235+250G>C) c.2331+250G>C (n.2331+250G>C) | |
| 11 | g.68759319C>T | CA223365558 | CPT1A | c.2235+250G>A (n.2235+250G>A) c.2331+250G>A (n.2331+250G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759320G>A | CA223365561 | CPT1A | c.2235+249C>T (n.2235+249C>T) c.2331+249C>T (n.2331+249C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759326C>T | CA2724352211 | CPT1A | c.2235+243G>A (n.2235+243G>A) c.2331+243G>A (n.2331+243G>A) | dbSNP |
| 11 | g.68759327A>G | CA679630289 | CPT1A | c.2235+242T>C (n.2235+242T>C) c.2331+242T>C (n.2331+242T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759328G>C | CA223365562 | CPT1A | c.2235+241C>G (n.2235+241C>G) c.2331+241C>G (n.2331+241C>G) | dbSNP |
| 11 | g.68759330G>A | CA223365563 | CPT1A | c.2235+239C>T (n.2235+239C>T) c.2331+239C>T (n.2331+239C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759331G>C | CA2792552350 | CPT1A | c.2235+238C>G (n.2235+238C>G) c.2331+238C>G (n.2331+238C>G) | |
| 11 | g.68759332T>G | CA939164569 | CPT1A | c.2235+237A>C (n.2235+237A>C) c.2331+237A>C (n.2331+237A>C) | gnomAD v3 gnomAD v4 |
| 11 | g.68759334A>G | CA2724352212 | CPT1A | c.2235+235T>C (n.2235+235T>C) c.2331+235T>C (n.2331+235T>C) | dbSNP |
| 11 | g.68759335C>T | CA2724352213 | CPT1A | c.2235+234G>A (n.2235+234G>A) c.2331+234G>A (n.2331+234G>A) | dbSNP |
| 11 | g.68759336A>G | CA679630291 | CPT1A | c.2235+233T>C (n.2235+233T>C) c.2331+233T>C (n.2331+233T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759337G>A | CA679630292 | CPT1A | c.2235+232C>T (n.2235+232C>T) c.2331+232C>T (n.2331+232C>T) | dbSNP |
| 11 | g.68759339G>A | CA2724352214 | CPT1A | c.2235+230C>T (n.2235+230C>T) c.2331+230C>T (n.2331+230C>T) | dbSNP |
| 11 | g.68759347A>T | CA679630293 | CPT1A | c.2235+222T>A (n.2235+222T>A) c.2331+222T>A (n.2331+222T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759351C>T | CA223365564 | CPT1A | c.2235+218G>A (n.2235+218G>A) c.2331+218G>A (n.2331+218G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759352G>A | CA223365565 | CPT1A | c.2235+217C>T (n.2235+217C>T) c.2331+217C>T (n.2331+217C>T) | dbSNP |
| 11 | g.68759352G>T | CA2724205955 | CPT1A | c.2235+217C>A (n.2235+217C>A) c.2331+217C>A (n.2331+217C>A) | dbSNP |
| 11 | g.68759355C>G | CA2724352215 | CPT1A | c.2235+214G>C (n.2235+214G>C) c.2331+214G>C (n.2331+214G>C) | dbSNP |
| 11 | g.68759359C>A | CA939164575 | CPT1A | c.2235+210G>T (n.2235+210G>T) c.2331+210G>T (n.2331+210G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759360A>C | CA2724263313 | CPT1A | c.2235+209T>G (n.2235+209T>G) c.2331+209T>G (n.2331+209T>G) | dbSNP |
| 11 | g.68759366G>C | CA679630295 | CPT1A | c.2235+203C>G (n.2235+203C>G) c.2331+203C>G (n.2331+203C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759369T>G | CA2724352217 | CPT1A | c.2235+200A>C (n.2235+200A>C) c.2331+200A>C (n.2331+200A>C) | dbSNP |
| 11 | g.68759370G>A | CA223365566 | CPT1A | c.2235+199C>T (n.2235+199C>T) c.2331+199C>T (n.2331+199C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759373C>A | CA939164579 | CPT1A | c.2235+196G>T (n.2235+196G>T) c.2331+196G>T (n.2331+196G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759373C>T | CA599985029 | CPT1A | c.2235+196G>A (n.2235+196G>A) c.2331+196G>A (n.2331+196G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759374G>A | CA679630296 | CPT1A | c.2235+195C>T (n.2235+195C>T) c.2331+195C>T (n.2331+195C>T) | dbSNP |
| 11 | g.68759376_68759377del | CA223365568 | CPT1A | c.2235+193_2235+194del (n.2235+193_2235+194del) c.2331+193_2331+194del (n.2331+193_2331+194del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759378G>A | CA939164582 | CPT1A | c.2235+191C>T (n.2235+191C>T) c.2331+191C>T (n.2331+191C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759378G>C | CA939164580 | CPT1A | c.2235+191C>G (n.2235+191C>G) c.2331+191C>G (n.2331+191C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759380G>A | CA2792552351 | CPT1A | c.2235+189C>T (n.2235+189C>T) c.2331+189C>T (n.2331+189C>T) | |
| 11 | g.68759381T>C | CA939164584 | CPT1A | c.2235+188A>G (n.2235+188A>G) c.2331+188A>G (n.2331+188A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759382G>A | CA223365571 | CPT1A | c.2235+187C>T (n.2235+187C>T) c.2331+187C>T (n.2331+187C>T) | dbSNP COSMIC |
| 11 | g.68759384_68759385del | CA223365569 | CPT1A | c.2235+186_2235+187del (n.2235+186_2235+187del) c.2331+186_2331+187del (n.2331+186_2331+187del) | dbSNP |
| 11 | g.68759385A>T | CA2724352218 | CPT1A | c.2235+184T>A (n.2235+184T>A) c.2331+184T>A (n.2331+184T>A) | dbSNP |
| 11 | g.68759386C>G | CA2724352219 | CPT1A | c.2235+183G>C (n.2235+183G>C) c.2331+183G>C (n.2331+183G>C) | dbSNP |
| 11 | g.68759387T>C | CA939164586 | CPT1A | c.2235+182A>G (n.2235+182A>G) c.2331+182A>G (n.2331+182A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759388G>C | CA939164602 | CPT1A | c.2235+181C>G (n.2235+181C>G) c.2331+181C>G (n.2331+181C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759388G>T | CA939164603 | CPT1A | c.2235+181C>A (n.2235+181C>A) c.2331+181C>A (n.2331+181C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759389T>G | CA2724352220 | CPT1A | c.2235+180A>C (n.2235+180A>C) c.2331+180A>C (n.2331+180A>C) | dbSNP |
| 11 | g.68759391T>A | CA2792552352 | CPT1A | c.2235+178A>T (n.2235+178A>T) c.2331+178A>T (n.2331+178A>T) | |
| 11 | g.68759391T>C | CA223365575 | CPT1A | c.2235+178A>G (n.2235+178A>G) c.2331+178A>G (n.2331+178A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759392C>T | CA223365577 | CPT1A | c.2235+177G>A (n.2235+177G>A) c.2331+177G>A (n.2331+177G>A) | dbSNP |
| 11 | g.68759393T>A | CA939164608 | CPT1A | c.2235+176A>T (n.2235+176A>T) c.2331+176A>T (n.2331+176A>T) | gnomAD v3 gnomAD v4 |
| 11 | g.68759394C>A | CA223365582 | CPT1A | c.2235+175G>T (n.2235+175G>T) c.2331+175G>T (n.2331+175G>T) | dbSNP |
| 11 | g.68759395dup | CA223365580 | CPT1A | c.2235+175dup (n.2235+175dup) c.2331+175dup (n.2331+175dup) | dbSNP |
| 11 | g.68759394_68759395insA | CA939164614 | CPT1A | c.2235+174_2235+175insT (n.2235+174_2235+175insT) c.2331+174_2331+175insT (n.2331+174_2331+175insT) | gnomAD v3 gnomAD v4 |
| 11 | g.68759395C>A | CA599985034 | CPT1A | c.2235+174G>T (n.2235+174G>T) c.2331+174G>T (n.2331+174G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759396A>C | CA2724352221 | CPT1A | c.2235+173T>G (n.2235+173T>G) c.2331+173T>G (n.2331+173T>G) | dbSNP |
| 11 | g.68759408dup | CA223365584 | CPT1A | c.2235+173dup (n.2235+173dup) c.2331+173dup (n.2331+173dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759407_68759408dup | CA939164619 | CPT1A | c.2235+172_2235+173dup (n.2235+172_2235+173dup) c.2331+172_2331+173dup (n.2331+172_2331+173dup) | gnomAD v3 gnomAD v4 |
| 11 | g.68759405_68759408dup | CA2497319441 | CPT1A | c.2235+170_2235+173dup (n.2235+170_2235+173dup) c.2331+170_2331+173dup (n.2331+170_2331+173dup) | dbSNP |
| 11 | g.68759408del | CA599985035 | CPT1A | c.2235+173del (n.2235+173del) c.2331+173del (n.2331+173del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759407_68759408del | CA939164622 | CPT1A | c.2235+172_2235+173del (n.2235+172_2235+173del) c.2331+172_2331+173del (n.2331+172_2331+173del) | gnomAD v3 gnomAD v4 |
| 11 | g.68759397A>C | CA223365587 | CPT1A | c.2235+172T>G (n.2235+172T>G) c.2331+172T>G (n.2331+172T>G) | dbSNP |
| 11 | g.68759400_68759401insC | CA2497319442 | CPT1A | c.2235+168_2235+169insG (n.2235+168_2235+169insG) c.2331+168_2331+169insG (n.2331+168_2331+169insG) | dbSNP |
| 11 | g.68759402A>T | CA2792552353 | CPT1A | c.2235+167T>A (n.2235+167T>A) c.2331+167T>A (n.2331+167T>A) | |
| 11 | g.68759406_68759421del | CA679630308 | CPT1A | c.2235+152_2235+167del (n.2235+152_2235+167del) c.2331+152_2331+167del (n.2331+152_2331+167del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759402_68759403insG | CA679630314 | CPT1A | c.2235+166_2235+167insC (n.2235+166_2235+167insC) c.2331+166_2331+167insC (n.2331+166_2331+167insC) | dbSNP |
| 11 | g.68759403A>C | CA679630313 | CPT1A | c.2235+166T>G (n.2235+166T>G) c.2331+166T>G (n.2331+166T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759404A>G | CA2724352222 | CPT1A | c.2235+165T>C (n.2235+165T>C) c.2331+165T>C (n.2331+165T>C) | dbSNP |
| 11 | g.68759405_68759406insG | CA2497319443 | CPT1A | c.2235+163_2235+164insC (n.2235+163_2235+164insC) c.2331+163_2331+164insC (n.2331+163_2331+164insC) | dbSNP |
| 11 | g.68759408A>T | CA599985038 | CPT1A | c.2235+161T>A (n.2235+161T>A) c.2331+161T>A (n.2331+161T>A) | dbSNP gnomAD v2 |
| 11 | g.68759408_68759409del | CA939164629 | CPT1A | c.2235+160_2235+161del (n.2235+160_2235+161del) c.2331+160_2331+161del (n.2331+160_2331+161del) | gnomAD v3 gnomAD v4 |
| 11 | g.68759409T>A | CA599985046 | CPT1A | c.2235+160A>T (n.2235+160A>T) c.2331+160A>T (n.2331+160A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68759417dup | CA599985043 | CPT1A | c.2235+160dup (n.2235+160dup) c.2331+160dup (n.2331+160dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759417del | CA223365589 | CPT1A | c.2235+160del (n.2235+160del) c.2331+160del (n.2331+160del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759411T>C | CA223365592 | CPT1A | c.2235+158A>G (n.2235+158A>G) c.2331+158A>G (n.2331+158A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759411T>G | CA2724200266 | CPT1A | c.2235+158A>C (n.2235+158A>C) c.2331+158A>C (n.2331+158A>C) | dbSNP |
| 11 | g.68759417T>A | CA223365595 | CPT1A | c.2235+152A>T (n.2235+152A>T) c.2331+152A>T (n.2331+152A>T) | dbSNP gnomAD v4 |
| 11 | g.68759417T>G | CA679630324 | CPT1A | c.2235+152A>C (n.2235+152A>C) c.2331+152A>C (n.2331+152A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759418A>T | CA223365597 | CPT1A | c.2235+151T>A (n.2235+151T>A) c.2331+151T>A (n.2331+151T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |