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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 |
|---|---|---|---|---|---|
| 10 | g.89214074C>T | CA2610081490 | LIPA | c.*754G>A (n.*754G>A) | gnomAD v4 |
| 10 | g.89214077T>C | CA2610081492 | LIPA | c.*751A>G (n.*751A>G) | gnomAD v4 |
| 10 | g.89214077T>G | CA211359920 | LIPA | c.*751A>C (n.*751A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214077T= | CA1926729544 | LIPA | c.*751A= (n.*751A=) | |
| 10 | g.89214078G>A | CA2610081493 | LIPA | c.*750C>T (n.*750C>T) | gnomAD v4 |
| 10 | g.89214082T>C | CA1926729546 | LIPA | c.*746A>G (n.*746A>G) | dbSNP |
| 10 | g.89214082T= | CA1926729545 | LIPA | c.*746A= (n.*746A=) | |
| 10 | g.89214084G>C | CA10636472 | LIPA | c.*744C>G (n.*744C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214084G= | CA1926729547 | LIPA | c.*744C= (n.*744C=) | |
| 10 | g.89214085A>G | CA2610081496 | LIPA | c.*743T>C (n.*743T>C) | gnomAD v4 |
| 10 | g.89214089C>A | CA2610081497 | LIPA | c.*739G>T (n.*739G>T) | gnomAD v4 |
| 10 | g.89214090T>A | CA669671650 | LIPA | c.*738A>T (n.*738A>T) | dbSNP |
| 10 | g.89214090T= | CA1926729548 | LIPA | c.*738A= (n.*738A=) | |
| 10 | g.89214092A= | CA1926729549 | LIPA | c.*736T= (n.*736T=) | |
| 10 | g.89214092A>G | CA594954329 | LIPA | c.*736T>C (n.*736T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214093T>C | CA1926729551 | LIPA | c.*735A>G (n.*735A>G) | dbSNP |
| 10 | g.89214093T= | CA1926729550 | LIPA | c.*735A= (n.*735A=) | |
| 10 | g.89214094G>T | CA2610081498 | LIPA | c.*734C>A (n.*734C>A) | gnomAD v4 |
| 10 | g.89214096A= | CA1926729552 | LIPA | c.*732T= (n.*732T=) | |
| 10 | g.89214096A>C | CA669671666 | LIPA | c.*732T>G (n.*732T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214097T>C | CA930984506 | LIPA | c.*731A>G (n.*731A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214097T= | CA1926729553 | LIPA | c.*731A= (n.*731A=) | |
| 10 | g.89214098A= | CA1926729554 | LIPA | c.*730T= (n.*730T=) | |
| 10 | g.89214098A>G | CA594954330 | LIPA | c.*730T>C (n.*730T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214103T>A | CA669671668 | LIPA | c.*725A>T (n.*725A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214103T>C | CA930984511 | LIPA | c.*725A>G (n.*725A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214103T= | CA1926729555 | LIPA | c.*725A= (n.*725A=) | |
| 10 | g.89214104G>A | CA669671671 | LIPA | c.*724C>T (n.*724C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214104G>C | CA1926729557 | LIPA | c.*724C>G (n.*724C>G) | dbSNP |
| 10 | g.89214104G= | CA1926729556 | LIPA | c.*724C= (n.*724C=) | |
| 10 | g.89214105G>T | CA2610081502 | LIPA | c.*723C>A (n.*723C>A) | gnomAD v4 |
| 10 | g.89214106T>G | CA1926729559 | LIPA | c.*722A>C (n.*722A>C) | dbSNP |
| 10 | g.89214106T= | CA1926729558 | LIPA | c.*722A= (n.*722A=) | |
| 10 | g.89214108G>A | CA2722468089 | LIPA | c.*720C>T (n.*720C>T) | dbSNP |
| 10 | g.89214110G>C | CA1926729561 | LIPA | c.*718C>G (n.*718C>G) | dbSNP |
| 10 | g.89214110G= | CA1926729560 | LIPA | c.*718C= (n.*718C=) | |
| 10 | g.89214110G>T | CA2610081503 | LIPA | c.*718C>A (n.*718C>A) | gnomAD v4 |
| 10 | g.89214111T>C | CA2610081504 | LIPA | c.*717A>G (n.*717A>G) | gnomAD v4 |
| 10 | g.89214112G= | CA1926729562 | LIPA | c.*716C= (n.*716C=) | |
| 10 | g.89214112G>T | CA1926729563 | LIPA | c.*716C>A (n.*716C>A) | dbSNP |
| 10 | g.89214116_89214117delinsCA | CA1926729564 | LIPA | c.*711_*712delinsTG (n.*711_*712delinsTG) | |
| 10 | g.89214117del | CA913503081 | LIPA | c.*711del (n.*711del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214119T>C | CA1926729566 | LIPA | c.*709A>G (n.*709A>G) | dbSNP |
| 10 | g.89214119T= | CA1926729565 | LIPA | c.*709A= (n.*709A=) | |
| 10 | g.89214120C>A | CA2610081505 | LIPA | c.*708G>T (n.*708G>T) | gnomAD v4 |
| 10 | g.89214123C= | CA1926729567 | LIPA | c.*705G= (n.*705G=) | |
| 10 | g.89214123C>G | CA669671673 | LIPA | c.*705G>C (n.*705G>C) | dbSNP |
| 10 | g.89214125A= | CA1926729568 | LIPA | c.*703T= (n.*703T=) | |
| 10 | g.89214125A>G | CA1926729569 | LIPA | c.*703T>C (n.*703T>C) | dbSNP |
| 10 | g.89214127G= | CA1926729570 | LIPA | c.*701C= (n.*701C=) | |
| 10 | g.89214127G>T | CA594954333 | LIPA | c.*701C>A (n.*701C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214128C>A | CA2610081506 | LIPA | c.*700G>T (n.*700G>T) | gnomAD v4 |
| 10 | g.89214131T>G | CA669671678 | LIPA | c.*697A>C (n.*697A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214131T= | CA1926729571 | LIPA | c.*697A= (n.*697A=) | |
| 10 | g.89214139_89214140del | CA2610081507 | LIPA | c.*689_*690del (n.*689_*690del) | gnomAD v4 |
| 10 | g.89214147_89214152delinsTTTTTG | CA1926729572 | LIPA | c.*676_*681delinsCAAAAA (n.*676_*681delinsCAAAAA) | |
| 10 | g.89214152_89214156del | CA594954334 | LIPA | c.*676_*680del (n.*676_*680del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214151T>G | CA669671684 | LIPA | c.*677A>C (n.*677A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214151T= | CA1926729573 | LIPA | c.*677A= (n.*677A=) | |
| 10 | g.89214159C= | CA1926729574 | LIPA | c.*669G= (n.*669G=) | |
| 10 | g.89214159C>T | CA930984518 | LIPA | c.*669G>A (n.*669G>A) | dbSNP |
| 10 | g.89214161G>A | CA211359940 | LIPA | c.*667C>T (n.*667C>T) | dbSNP |
| 10 | g.89214161G= | CA1926729575 | LIPA | c.*667C= (n.*667C=) | |
| 10 | g.89214164C>A | CA2610081508 | LIPA | c.*664G>T (n.*664G>T) | gnomAD v4 |
| 10 | g.89214164C= | CA1926729576 | LIPA | c.*664G= (n.*664G=) | |
| 10 | g.89214164C>T | CA1926729577 | LIPA | c.*664G>A (n.*664G>A) | dbSNP |
| 10 | g.89214166dup | CA2722468090 | LIPA | c.*663dup (n.*663dup) | dbSNP |
| 10 | g.89214166A= | CA1926729578 | LIPA | c.*662T= (n.*662T=) | |
| 10 | g.89214166A>G | CA669671687 | LIPA | c.*662T>C (n.*662T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214167T>A | CA2722468128 | LIPA | c.*661A>T (n.*661A>T) | dbSNP |
| 10 | g.89214170_89214173del | CA2722468129 | LIPA | c.*658_*661del (n.*658_*661del) | dbSNP |
| 10 | g.89214169T>C | CA1926729580 | LIPA | c.*659A>G (n.*659A>G) | dbSNP |
| 10 | g.89214169T= | CA1926729579 | LIPA | c.*659A= (n.*659A=) | |
| 10 | g.89214171T>A | CA2610081509 | LIPA | c.*657A>T (n.*657A>T) | gnomAD v4 |
| 10 | g.89214171T>C | CA211359942 | LIPA | c.*657A>G (n.*657A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214171T= | CA1926729581 | LIPA | c.*657A= (n.*657A=) |