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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 |
|---|---|---|---|---|---|
| 22 | g.49913380C>T | CA2657453614 | ALG12 | c.295+5G>A (n.295+5G>A) | gnomAD v4 |
| 22 | g.49913381T>A | CA2657453615 | ALG12 | c.295+4A>T (n.295+4A>T) | gnomAD v4 |
| 22 | g.49913381T>G | CA2410564712 | ALG12 | c.295+4A>C (n.295+4A>C) | dbSNP |
| 22 | g.49913381T= | CA2410564711 | ALG12 | c.295+4A= (n.295+4A=) | |
| 22 | g.49913382T>C | CA2410564714 | ALG12 | c.295+3A>G (n.295+3A>G) | dbSNP |
| 22 | g.49913382T= | CA2410564713 | ALG12 | c.295+3A= (n.295+3A=) | |
| 22 | g.49913383A>C | CA412079406 | ALG12 | c.295+2T>G (n.295+2T>G) | |
| 22 | g.49913383A>G | CA412079408 | ALG12 | c.295+2T>C (n.295+2T>C) | |
| 22 | g.49913383A>T | CA412079409 | ALG12 | c.295+2T>A (n.295+2T>A) | |
| 22 | g.49913384C>A | CA412079411 | ALG12 | c.295+1G>T (n.295+1G>T) | |
| 22 | g.49913384C= | CA2410564715 | ALG12 | c.295+1G= (n.295+1G=) | |
| 22 | g.49913384C>G | CA412079413 | ALG12 | c.295+1G>C (n.295+1G>C) | |
| 22 | g.49913384C>T | CA10300678 | ALG12 | c.295+1G>A (n.295+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.49913385dup | CA2839308633 | ALG12 | c.295+1dup | |
| 22 | g.49913385C>A | CA412079416 | ALG12 | c.295G>T (p.Val99Phe) | |
| 22 | g.49913385C>G | CA412079418 | ALG12 | c.295G>C (p.Val99Leu) | |
| 22 | g.49913385C>T | CA412079419 | ALG12 | c.295G>A (p.Val99Ile) | |
| 22 | g.49913386T>A | CA514983941 | ALG12 | c.294A>T (p.Ile98=) | |
| 22 | g.49913386T>C | CA325433323 | ALG12 | c.294A>G (p.Ile98Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.49913386T>G | CA514983942 | ALG12 | c.294A>C (p.Ile98=) | |
| 22 | g.49913386T= | CA2410564716 | ALG12 | c.294A= (p.Ile98=) | |
| 22 | g.49913387A>C | CA412079422 | ALG12 | c.293T>G (p.Ile98Arg) | |
| 22 | g.49913387A>G | CA412079425 | ALG12 | c.293T>C (p.Ile98Thr) | gnomAD v4 |
| 22 | g.49913387A>T | CA412079424 | ALG12 | c.293T>A (p.Ile98Lys) | |
| 22 | g.49913388T>A | CA412079428 | ALG12 | c.292A>T (p.Ile98Leu) | |
| 22 | g.49913388T>C | CA10300679 | ALG12 | c.292A>G (p.Ile98Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.49913388T>G | CA412079430 | ALG12 | c.292A>C (p.Ile98Leu) | |
| 22 | g.49913388T= | CA2410564717 | ALG12 | c.292A= (p.Ile98=) | |
| 22 | g.49913389T>A | CA514983945 | ALG12 | c.291A>T (p.Leu97=) | |
| 22 | g.49913389T>C | CA514983943 | ALG12 | c.291A>G (p.Leu97=) | |
| 22 | g.49913389T>G | CA514983944 | ALG12 | c.291A>C (p.Leu97=) | |
| 22 | g.49913390A>C | CA412079432 | ALG12 | c.290T>G (p.Leu97Arg) | |
| 22 | g.49913390A>G | CA412079434 | ALG12 | c.290T>C (p.Leu97Pro) | |
| 22 | g.49913390A>T | CA412079435 | ALG12 | c.290T>A (p.Leu97Gln) | |
| 22 | g.49913391G>A | CA514983946 | ALG12 | c.289C>T (p.Leu97=) | |
| 22 | g.49913391G>C | CA412079437 | ALG12 | c.289C>G (p.Leu97Val) | |
| 22 | g.49913391G>T | CA412079439 | ALG12 | c.289C>A (p.Leu97Ile) | |
| 22 | g.49913392C>A | CA412079441 | ALG12 | c.288G>T (p.Gln96His) | |
| 22 | g.49913392C>G | CA412079442 | ALG12 | c.288G>C (p.Gln96His) | |
| 22 | g.49913392C>T | CA514983947 | ALG12 | c.288G>A (p.Gln96=) | |
| 22 | g.49913393T>A | CA412079445 | ALG12 | c.287A>T (p.Gln96Leu) | |
| 22 | g.49913393T>C | CA412079447 | ALG12 | c.287A>G (p.Gln96Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.49913393T>G | CA412079448 | ALG12 | c.287A>C (p.Gln96Pro) | |
| 22 | g.49913393T= | CA2410564718 | ALG12 | c.287A= (p.Gln96=) | |
| 22 | g.49913394G>A | CA412079451 | ALG12 | c.286C>T (p.Gln96Ter) | gnomAD v4 |
| 22 | g.49913394G>C | CA412079453 | ALG12 | c.286C>G (p.Gln96Glu) | dbSNP gnomAD v4 |
| 22 | g.49913394G= | CA2410564719 | ALG12 | c.286C= (p.Gln96=) | |
| 22 | g.49913394G>T | CA412079452 | ALG12 | c.286C>A (p.Gln96Lys) | COSMIC |
| 22 | g.49913395A= | CA2410564720 | ALG12 | c.285T= (p.Ser95=) | |
| 22 | g.49913395A>C | CA514983950 | ALG12 | c.285T>G (p.Ser95=) | dbSNP gnomAD v3 gnomAD v4 |