SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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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.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=) | |
| 10 | g.89214178A= | CA1926729582 | LIPA | c.*650T= (n.*650T=) | |
| 10 | g.89214178A>G | CA1926729583 | LIPA | c.*650T>C (n.*650T>C) | dbSNP |
| 10 | g.89214179G>A | CA669671689 | LIPA | c.*649C>T (n.*649C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214179G= | CA1926729584 | LIPA | c.*649C= (n.*649C=) | |
| 10 | g.89214181C= | CA1926729586 | LIPA | c.*647G= (n.*647G=) | |
| 10 | g.89214181C>G | CA1926729585 | LIPA | c.*647G>C (n.*647G>C) | dbSNP gnomAD v4 |
| 10 | g.89214181C>T | CA211359943 | LIPA | c.*647G>A (n.*647G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214182G>A | CA211359950 | LIPA | c.*646C>T (n.*646C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214182G= | CA1926729587 | LIPA | c.*646C= (n.*646C=) | |
| 10 | g.89214182G>T | CA211359952 | LIPA | c.*646C>A (n.*646C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214183C= | CA1926729588 | LIPA | c.*645G= (n.*645G=) | |
| 10 | g.89214183C>T | CA211359954 | LIPA | c.*645G>A (n.*645G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214184C>A | CA2610081513 | LIPA | c.*644G>T (n.*644G>T) | gnomAD v4 |
| 10 | g.89214184C>T | CA2610081514 | LIPA | c.*644G>A (n.*644G>A) | gnomAD v4 |
| 10 | g.89214185G>A | CA10632836 | LIPA | c.*643C>T (n.*643C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214185G= | CA1926729589 | LIPA | c.*643C= (n.*643C=) | |
| 10 | g.89214186G>A | CA1926729591 | LIPA | c.*642C>T (n.*642C>T) | dbSNP |
| 10 | g.89214186G= | CA1926729590 | LIPA | c.*642C= (n.*642C=) | |
| 10 | g.89214188A= | CA1926729592 | LIPA | c.*640T= (n.*640T=) | |
| 10 | g.89214188A>G | CA211359979 | LIPA | c.*640T>C (n.*640T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214192T>A | CA594954342 | LIPA | c.*636A>T (n.*636A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214192T= | CA1926729593 | LIPA | c.*636A= (n.*636A=) | |
| 10 | g.89214193A= | CA1926729594 | LIPA | c.*635T= (n.*635T=) | |
| 10 | g.89214193A>G | CA211359983 | LIPA | c.*635T>C (n.*635T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214195T>C | CA211359991 | LIPA | c.*633A>G (n.*633A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214195T= | CA1926729595 | LIPA | c.*633A= (n.*633A=) | |
| 10 | g.89214197C>A | CA1926729597 | LIPA | c.*631G>T (n.*631G>T) | dbSNP |
| 10 | g.89214197C= | CA1926729596 | LIPA | c.*631G= (n.*631G=) | |
| 10 | g.89214204C= | CA1926729598 | LIPA | c.*624G= (n.*624G=) | |
| 10 | g.89214204C>T | CA1926729599 | LIPA | c.*624G>A (n.*624G>A) | dbSNP |
| 10 | g.89214207G>T | CA2555825008 | LIPA | c.*621C>A (n.*621C>A) | gnomAD v4 |
| 10 | g.89214209_89214210insAAG | CA2572017793 | LIPA | c.*620_*621insTCT (n.*620_*621insTCT) | |
| 10 | g.89214209G>A | CA2788925634 | LIPA | c.*619C>T (n.*619C>T) | |
| 10 | g.89214210C= | CA1926729600 | LIPA | c.*618G= (n.*618G=) | |
| 10 | g.89214210C>G | CA10629442 | LIPA | c.*618G>C (n.*618G>C) | ClinVar dbSNP |
| 10 | g.89214212_89214213insATCCCTGTGGAGACTATACCAC | CA2524059644 | LIPA | c.*615_*616insGTGGTATAGTCTCCACAGGGAT (n.*615_*616insGTGGTATAGTCTCCACAGGGAT) | |
| 10 | g.89214215A= | CA1926729601 | LIPA | c.*613T= (n.*613T=) | |
| 10 | g.89214215A>T | CA930984530 | LIPA | c.*613T>A (n.*613T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214219C= | CA1926729602 | LIPA | c.*609G= (n.*609G=) | |
| 10 | g.89214219C>T | CA211360021 | LIPA | c.*609G>A (n.*609G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214219_89214220insAT | CA211360034 | LIPA | c.*608_*609insAT (n.*608_*609insAT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214220G>A | CA211360046 | LIPA | c.*608C>T (n.*608C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89214220G= | CA1926729603 | LIPA | c.*608C= (n.*608C=) | |
| 10 | g.89214220G>T | CA211360049 | LIPA | c.*608C>A (n.*608C>A) | dbSNP |
| 10 | g.89214221T>C | CA1926729605 | LIPA | c.*607A>G (n.*607A>G) | dbSNP |
| 10 | g.89214221T= | CA1926729604 | LIPA | c.*607A= (n.*607A=) | |
| 10 | g.89214224C>A | CA2610081524 | LIPA | c.*604G>T (n.*604G>T) | gnomAD v4 |
| 10 | g.89214227A= | CA1926729606 | LIPA | c.*601T= (n.*601T=) | |
| 10 | g.89214227A>T | CA2610081525 | LIPA | c.*601T>A (n.*601T>A) | gnomAD v4 |
| 10 | g.89214228dup | CA1926729607 | LIPA | c.*600dup (n.*600dup) | dbSNP |
| 10 | g.89214229C= | CA1926729608 | LIPA | c.*599G= (n.*599G=) | |
| 10 | g.89214229C>T | CA669671703 | LIPA | c.*599G>A (n.*599G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.89214231C>A | CA2610081527 | LIPA | c.*597G>T (n.*597G>T) | gnomAD v4 |