SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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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 |
|---|---|---|---|---|---|
| 1 | g.165319041_165319049delinsACCCCAACT | CA1204368337 | LMX1A | c.263+34027_263+34035delinsAGTTGGGGT (n.263+34027_263+34035delinsAGTTGGGGT) | |
| 1 | g.165319042_165319047delinsCCCCAA | CA1204368342 | LMX1A | c.263+34029_263+34034delinsTTGGGG (n.263+34029_263+34034delinsTTGGGG) | |
| 1 | g.165319042_165319049del | CA916330352 | LMX1A | c.263+34027_263+34034del (n.263+34027_263+34034del) | dbSNP |
| 1 | g.165319044_165319048del | CA1204368345 | LMX1A | c.263+34029_263+34033del (n.263+34029_263+34033del) | dbSNP |
| 1 | g.165319047del | CA1008678915 | LMX1A | c.263+34030del (n.263+34030del) | gnomAD v3 gnomAD v4 |
| 1 | g.165319050T>A | CA890570283 | LMX1A | c.263+34026A>T (n.263+34026A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319050T= | CA1204368349 | LMX1A | c.263+34026A= (n.263+34026A=) | |
| 1 | g.165319053T>C | CA2697348282 | LMX1A | c.263+34023A>G (n.263+34023A>G) | dbSNP |
| 1 | g.165319057A= | CA1204368350 | LMX1A | c.263+34019T= (n.263+34019T=) | |
| 1 | g.165319057A>G | CA1204368351 | LMX1A | c.263+34019T>C (n.263+34019T>C) | dbSNP |
| 1 | g.165319058G>T | CA2746472892 | LMX1A | c.263+34018C>A (n.263+34018C>A) | |
| 1 | g.165319059G>A | CA1204368353 | LMX1A | c.263+34017C>T (n.263+34017C>T) | dbSNP |
| 1 | g.165319059G= | CA1204368352 | LMX1A | c.263+34017C= (n.263+34017C=) | |
| 1 | g.165319061A>G | CA2531806667 | LMX1A | c.263+34015T>C (n.263+34015T>C) | |
| 1 | g.165319065G>A | CA2605422551 | LMX1A | c.263+34011C>T (n.263+34011C>T) | gnomAD v3 gnomAD v4 |
| 1 | g.165319065G>C | CA526927373 | LMX1A | c.263+34011C>G (n.263+34011C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.165319065G= | CA1204368354 | LMX1A | c.263+34011C= (n.263+34011C=) | |
| 1 | g.165319066A= | CA1204368355 | LMX1A | c.263+34010T= (n.263+34010T=) | |
| 1 | g.165319066A>G | CA31864847 | LMX1A | c.263+34010T>C (n.263+34010T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319069T>C | CA1008678917 | LMX1A | c.263+34007A>G (n.263+34007A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319069T>G | CA1008678919 | LMX1A | c.263+34007A>C (n.263+34007A>C) | gnomAD v3 gnomAD v4 |
| 1 | g.165319069T= | CA1204368356 | LMX1A | c.263+34007A= (n.263+34007A=) | |
| 1 | g.165319073T>C | CA31864850 | LMX1A | c.263+34003A>G (n.263+34003A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319073T>G | CA31864851 | LMX1A | c.263+34003A>C (n.263+34003A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319073T= | CA1204368357 | LMX1A | c.263+34003A= (n.263+34003A=) | |
| 1 | g.165319074T>A | CA1008678920 | LMX1A | c.263+34002A>T (n.263+34002A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319074T= | CA1204368358 | LMX1A | c.263+34002A= (n.263+34002A=) | |
| 1 | g.165319075A>G | CA1008678921 | LMX1A | c.263+34001T>C (n.263+34001T>C) | gnomAD v3 gnomAD v4 |
| 1 | g.165319077C= | CA1204368360 | LMX1A | c.263+33999G= (n.263+33999G=) | |
| 1 | g.165319077C>G | CA1204368359 | LMX1A | c.263+33999G>C (n.263+33999G>C) | dbSNP |
| 1 | g.165319079T>G | CA890570292 | LMX1A | c.263+33997A>C (n.263+33997A>C) | dbSNP |
| 1 | g.165319079T= | CA1204368361 | LMX1A | c.263+33997A= (n.263+33997A=) | |
| 1 | g.165319081A= | CA1204368362 | LMX1A | c.263+33995T= (n.263+33995T=) | |
| 1 | g.165319081A>G | CA890570293 | LMX1A | c.263+33995T>C (n.263+33995T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319082del | CA2605422552 | LMX1A | c.263+33994del (n.263+33994del) | gnomAD v3 gnomAD v4 |
| 1 | g.165319082T>C | CA1204368364 | LMX1A | c.263+33994A>G (n.263+33994A>G) | dbSNP |
| 1 | g.165319082T= | CA1204368363 | LMX1A | c.263+33994A= (n.263+33994A=) | |
| 1 | g.165319086G>A | CA31864853 | LMX1A | c.263+33990C>T (n.263+33990C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319086G>C | CA31864854 | LMX1A | c.263+33990C>G (n.263+33990C>G) | dbSNP |
| 1 | g.165319086G= | CA1144958954 | LMX1A | c.263+33990C= (n.263+33990C=) | |
| 1 | g.165319091G>A | CA2746472893 | LMX1A | c.263+33985C>T (n.263+33985C>T) | |
| 1 | g.165319092C>A | CA890570299 | LMX1A | c.263+33984G>T (n.263+33984G>T) | dbSNP |
| 1 | g.165319092C= | CA1204368365 | LMX1A | c.263+33984G= (n.263+33984G=) | |
| 1 | g.165319092C>T | CA890570298 | LMX1A | c.263+33984G>A (n.263+33984G>A) | dbSNP |
| 1 | g.165319093A= | CA1204368366 | LMX1A | c.263+33983T= (n.263+33983T=) | |
| 1 | g.165319093A>G | CA1204368367 | LMX1A | c.263+33983T>C (n.263+33983T>C) | dbSNP |
| 1 | g.165319094A= | CA1204368368 | LMX1A | c.263+33982T= (n.263+33982T=) | |
| 1 | g.165319094A>G | CA31864855 | LMX1A | c.263+33982T>C (n.263+33982T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.165319096C>T | CA2746472894 | LMX1A | c.263+33980G>A (n.263+33980G>A) | |
| 1 | g.165319101A= | CA1204368369 | LMX1A | c.263+33975T= (n.263+33975T=) | |
| 1 | g.165319101A>T | CA1008678926 | LMX1A | c.263+33975T>A (n.263+33975T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319104T>G | CA1008678931 | LMX1A | c.263+33972A>C (n.263+33972A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319104T= | CA1204368370 | LMX1A | c.263+33972A= (n.263+33972A=) | |
| 1 | g.165319106C= | CA1204368371 | LMX1A | c.263+33970G= (n.263+33970G=) | |
| 1 | g.165319106C>T | CA1204368372 | LMX1A | c.263+33970G>A (n.263+33970G>A) | dbSNP |
| 1 | g.165319108G>A | CA31864857 | LMX1A | c.263+33968C>T (n.263+33968C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.165319108G= | CA1140632517 | LMX1A | c.263+33968C= (n.263+33968C=) | |
| 1 | g.165319109C= | CA1204368373 | LMX1A | c.263+33967G= (n.263+33967G=) | |
| 1 | g.165319109C>T | CA526927376 | LMX1A | c.263+33967G>A (n.263+33967G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.165319111A= | CA1204368374 | LMX1A | c.263+33965T= (n.263+33965T=) | |
| 1 | g.165319111A>G | CA31864863 | LMX1A | c.263+33965T>C (n.263+33965T>C) | dbSNP |
| 1 | g.165319113C= | CA1204368375 | LMX1A | c.263+33963G= (n.263+33963G=) | |
| 1 | g.165319113C>T | CA31864867 | LMX1A | c.263+33963G>A (n.263+33963G>A) | dbSNP |
| 1 | g.165319114A= | CA1204368376 | LMX1A | c.263+33962T= (n.263+33962T=) | |
| 1 | g.165319114A>G | CA31864868 | LMX1A | c.263+33962T>C (n.263+33962T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.165319118T>C | CA890570305 | LMX1A | c.263+33958A>G (n.263+33958A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319118T= | CA1204368377 | LMX1A | c.263+33958A= (n.263+33958A=) | |
| 1 | g.165319120T>A | CA2838172853 | LMX1A | c.263+33956A>T (n.263+33956A>T) | |
| 1 | g.165319120T>C | CA31864873 | LMX1A | c.263+33956A>G (n.263+33956A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.165319120T>G | CA2838172852 | LMX1A | c.263+33956A>C (n.263+33956A>C) | |
| 1 | g.165319120T= | CA1140291376 | LMX1A | c.263+33956A= (n.263+33956A=) | |
| 1 | g.165319128A= | CA1204368378 | LMX1A | c.263+33948T= (n.263+33948T=) | |
| 1 | g.165319128A>G | CA1204368379 | LMX1A | c.263+33948T>C (n.263+33948T>C) | dbSNP |
| 1 | g.165319128A>T | CA2545257195 | LMX1A | c.263+33948T>A (n.263+33948T>A) | |
| 1 | g.165319130T>C | CA31864881 | LMX1A | c.263+33946A>G (n.263+33946A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.165319130T= | CA1204368380 | LMX1A | c.263+33946A= (n.263+33946A=) | |
| 1 | g.165319137_165319141delinsACATT | CA1204368381 | LMX1A | c.263+33935_263+33939delinsAATGT (n.263+33935_263+33939delinsAATGT) | |
| 1 | g.165319142_165319145del | CA890570309 | LMX1A | c.263+33935_263+33938del (n.263+33935_263+33938del) | dbSNP |
| 1 | g.165319139A>G | CA646026898 | LMX1A | c.263+33937T>C (n.263+33937T>C) | COSMIC |
| 1 | g.165319147T>C | CA1204368383 | LMX1A | c.263+33929A>G (n.263+33929A>G) | dbSNP |
| 1 | g.165319147T= | CA1204368382 | LMX1A | c.263+33929A= (n.263+33929A=) |