Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.43887166_43887167insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA | CA2555354538 | LRPPRC | c.2408_2409insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT n.9505_9506insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT (n.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT) n.5823_5824insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT | |
2 | g.43887164_43887165delinsAG | CA2493970857 | LRPPRC | c.2387_2388delinsCT n.9484_9485delinsCT c.*1435_*1436delinsCT (n.*1435_*1436delinsCT) n.5802_5803delinsCT | |
2 | g.43887165_43887166del | CA2658842344 | LRPPRC | c.2387_2388del n.9484_9485del c.*1435_*1436del (n.*1435_*1436del) n.5802_5803del | gnomAD v4 |
2 | g.43887164_43887167delinsAGAT | CA2493970859 | LRPPRC | c.2385_2388delinsATCT n.9482_9485delinsATCT c.*1433_*1436delinsATCT (n.*1433_*1436delinsATCT) n.5800_5803delinsATCT | |
2 | g.43887165del | CA10613403 | LRPPRC | c.2387del n.9484del c.*1435del (n.*1435del) n.5802del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.43887165G>A | CA46493260 | LRPPRC | c.2387C>T n.9484C>T c.*1435C>T (n.*1435C>T) n.5802C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43887165G>C | CA2493970860 | LRPPRC | c.2387C>G n.9484C>G c.*1435C>G (n.*1435C>G) n.5802C>G | dbSNP |
2 | g.43887165G= | CA2493970861 | LRPPRC | c.2387C= n.9484C= c.*1435C= (n.*1435C=) n.5802C= | |
2 | g.43887165G>T | CA1029995681 | LRPPRC | c.2387C>A n.9484C>A c.*1435C>A (n.*1435C>A) n.5802C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43887166_43887168del | CA2493970862 | LRPPRC | c.2385_2387del n.9482_9484del c.*1433_*1435del (n.*1433_*1435del) n.5800_5802del | dbSNP |
2 | g.43887166A= | CA2493970865 | LRPPRC | c.2386T= n.9483T= c.*1434T= (n.*1434T=) n.5801T= | |
2 | g.43887166A>G | CA2658842347 | LRPPRC | c.2386T>C n.9483T>C c.*1434T>C (n.*1434T>C) n.5801T>C | gnomAD v4 |
2 | g.43887166A>T | CA1029995740 | LRPPRC | c.2386T>A n.9483T>A c.*1434T>A (n.*1434T>A) n.5801T>A | gnomAD v3 gnomAD v4 |
2 | g.43887166_43887167del | CA1029995725 | LRPPRC | c.2385_2386del n.9482_9483del c.*1433_*1434del (n.*1433_*1434del) n.5800_5801del | gnomAD v3 gnomAD v4 |
2 | g.43887166_43887171delinsATGCTT | CA2493970864 | LRPPRC | c.2381_2386delinsAAGCAT n.9478_9483delinsAAGCAT c.*1429_*1434delinsAAGCAT (n.*1429_*1434delinsAAGCAT) n.5796_5801delinsAAGCAT | |
2 | g.43887166_43887176delinsATGCTTTTGGC | CA2493970863 | LRPPRC | c.2376_2386delinsGCCAAAAGCAT n.9473_9483delinsGCCAAAAGCAT c.*1424_*1434delinsGCCAAAAGCAT (n.*1424_*1434delinsGCCAAAAGCAT) n.5791_5801delinsGCCAAAAGCAT | |
2 | g.43887166_43887167insAAAAAAAATT | CA1029995773 | LRPPRC | c.2385_2386insAATTTTTTTT n.9482_9483insAATTTTTTTT c.*1433_*1434insAATTTTTTTT (n.*1433_*1434insAATTTTTTTT) n.5800_5801insAATTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43887166_43887167insAAAAAAAAAAT | CA532289393 | LRPPRC | c.2385_2386insATTTTTTTTTT n.9482_9483insATTTTTTTTTT c.*1433_*1434insATTTTTTTTTT (n.*1433_*1434insATTTTTTTTTT) n.5800_5801insATTTTTTTTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43887166_43887167insAAAAAAAAAATT | CA2596915460 | LRPPRC | c.2385_2386insAATTTTTTTTTT n.9482_9483insAATTTTTTTTTT c.*1433_*1434insAATTTTTTTTTT (n.*1433_*1434insAATTTTTTTTTT) n.5800_5801insAATTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.43887166_43887167insAAAAAAAAAAAAT | CA1029995757 | LRPPRC | c.2385_2386insATTTTTTTTTTTT n.9482_9483insATTTTTTTTTTTT c.*1433_*1434insATTTTTTTTTTTT (n.*1433_*1434insATTTTTTTTTTTT) n.5800_5801insATTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.43887166_43887167insAAAAAAAAAAATT | CA1029995754 | LRPPRC | c.2385_2386insAATTTTTTTTTTT n.9482_9483insAATTTTTTTTTTT c.*1433_*1434insAATTTTTTTTTTT (n.*1433_*1434insAATTTTTTTTTTT) n.5800_5801insAATTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.43887166_43887167insAAAAAAAAAAAAAAAT | CA2699134719 | LRPPRC | c.2385_2386insATTTTTTTTTTTTTTT n.9482_9483insATTTTTTTTTTTTTTT c.*1433_*1434insATTTTTTTTTTTTTTT (n.*1433_*1434insATTTTTTTTTTTTTTT) n.5800_5801insATTTTTTTTTTTTTTT | dbSNP |
2 | g.43887166_43887167insAAAAAAAAAAAAAAAAATT | CA2699134718 | LRPPRC | c.2385_2386insAATTTTTTTTTTTTTTTTT n.9482_9483insAATTTTTTTTTTTTTTTTT c.*1433_*1434insAATTTTTTTTTTTTTTTTT (n.*1433_*1434insAATTTTTTTTTTTTTTTTT) n.5800_5801insAATTTTTTTTTTTTTTTTT | dbSNP |
2 | g.43887166_43887167insAAAAAAAAAAAAAAAAAAAT | CA2699134717 | LRPPRC | c.2385_2386insATTTTTTTTTTTTTTTTTTT n.9482_9483insATTTTTTTTTTTTTTTTTTT c.*1433_*1434insATTTTTTTTTTTTTTTTTTT (n.*1433_*1434insATTTTTTTTTTTTTTTTTTT) n.5800_5801insATTTTTTTTTTTTTTTTTTT | dbSNP |
2 | g.43887166_43887167insAAAAAAAAAAAAAAAAAAAAT | CA1029995760 | LRPPRC | c.2385_2386insATTTTTTTTTTTTTTTTTTTT n.9482_9483insATTTTTTTTTTTTTTTTTTTT c.*1433_*1434insATTTTTTTTTTTTTTTTTTTT (n.*1433_*1434insATTTTTTTTTTTTTTTTTTTT) n.5800_5801insATTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.43887166_43887167insAAAAAAAAAAAAAAAAAAAATT | CA1029995758 | LRPPRC | c.2385_2386insAATTTTTTTTTTTTTTTTTTTT n.9482_9483insAATTTTTTTTTTTTTTTTTTTT c.*1433_*1434insAATTTTTTTTTTTTTTTTTTTT (n.*1433_*1434insAATTTTTTTTTTTTTTTTTTTT) n.5800_5801insAATTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43887166_43887167insAAAAAAAAAAAAAAAAAAAAAAT | CA1029995763 | LRPPRC | c.2385_2386insATTTTTTTTTTTTTTTTTTTTTT n.9482_9483insATTTTTTTTTTTTTTTTTTTTTT c.*1433_*1434insATTTTTTTTTTTTTTTTTTTTTT (n.*1433_*1434insATTTTTTTTTTTTTTTTTTTTTT) n.5800_5801insATTTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43887166_43887167insAAAAAAAAAAAAAAAAAAAAAAAAAAAATTT | CA2493970866 | LRPPRC | c.2385_2386insAAATTTTTTTTTTTTTTTTTTTTTTTTTTTT n.9482_9483insAAATTTTTTTTTTTTTTTTTTTTTTTTTTTT c.*1433_*1434insAAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1433_*1434insAAATTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.5800_5801insAAATTTTTTTTTTTTTTTTTTTTTTTTTTTT | dbSNP |
2 | g.43887167T>A | CA532289394 | LRPPRC | c.2385A>T n.9482A>T c.*1433A>T (n.*1433A>T) n.5800A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43887167T>C | CA2658842348 | LRPPRC | c.2385A>G n.9482A>G c.*1433A>G (n.*1433A>G) n.5800A>G | gnomAD v4 |
2 | g.43887167T>G | CA1029995750 | LRPPRC | c.2385A>C n.9482A>C c.*1433A>C (n.*1433A>C) n.5800A>C | gnomAD v3 gnomAD v4 |
2 | g.43887167T= | CA2493970868 | LRPPRC | c.2385A= n.9482A= c.*1433A= (n.*1433A=) n.5800A= | |
2 | g.43887167_43887168del | CA2596915459 | LRPPRC | c.2384_2385del n.9481_9482del c.*1432_*1433del (n.*1432_*1433del) n.5799_5800del | gnomAD v3 gnomAD v4 |
2 | g.43887168_43887170del | CA1029995755 | LRPPRC | c.2383_2385del n.9480_9482del c.*1431_*1433del (n.*1431_*1433del) n.5798_5800del | gnomAD v3 gnomAD v4 |
2 | g.43887168_43887172del | CA2493970867 | LRPPRC | c.2381_2385del n.9478_9482del c.*1429_*1433del (n.*1429_*1433del) n.5796_5800del | dbSNP |
2 | g.43887167_43887175del | CA1029995753 | LRPPRC | c.2377_2385del n.9474_9482del c.*1425_*1433del (n.*1425_*1433del) n.5792_5800del | gnomAD v3 gnomAD v4 |
2 | g.43887167_43887176del | CA532289392 | LRPPRC | c.2376_2385del n.9473_9482del c.*1424_*1433del (n.*1424_*1433del) n.5791_5800del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.43887168G>A | CA1029995781 | LRPPRC | c.2384C>T n.9481C>T c.*1432C>T (n.*1432C>T) n.5799C>T | gnomAD v3 gnomAD v4 |
2 | g.43887168G>T | CA1029995793 | LRPPRC | c.2384C>A n.9481C>A c.*1432C>A (n.*1432C>A) n.5799C>A | gnomAD v3 gnomAD v4 |
2 | g.43887169C>A | CA1029995798 | LRPPRC | c.2383G>T n.9480G>T c.*1431G>T (n.*1431G>T) n.5798G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43887169C>G | CA1029995796 | LRPPRC | c.2383G>C n.9480G>C c.*1431G>C (n.*1431G>C) n.5798G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.43887169C>T | CA1029995794 | LRPPRC | c.2383G>A n.9480G>A c.*1431G>A (n.*1431G>A) n.5798G>A | gnomAD v3 gnomAD v4 |
2 | g.43887169dup | CA1029995805 | LRPPRC | c.2383dup n.9480dup c.*1431dup (n.*1431dup) n.5798dup | gnomAD v3 gnomAD v4 |
2 | g.43887170T>C | CA1029995809 | LRPPRC | c.2382A>G n.9479A>G c.*1430A>G (n.*1430A>G) n.5797A>G | gnomAD v3 gnomAD v4 |
2 | g.43887171T>G | CA2658842349 | LRPPRC | c.2381A>C n.9478A>C c.*1429A>C (n.*1429A>C) n.5796A>C | gnomAD v4 |
2 | g.43887174G>T | CA1029995810 | LRPPRC | c.2378C>A n.9475C>A c.*1426C>A (n.*1426C>A) n.5793C>A | gnomAD v3 gnomAD v4 |
2 | g.43887176C>A | CA1029995811 | LRPPRC | c.2376G>T n.9473G>T c.*1424G>T (n.*1424G>T) n.5791G>T | gnomAD v3 gnomAD v4 |
2 | g.43887176C= | CA2493970869 | LRPPRC | c.2376G= n.9473G= c.*1424G= (n.*1424G=) n.5791G= | |
2 | g.43887176C>T | CA2658842350 | LRPPRC | c.2376G>A n.9473G>A c.*1424G>A (n.*1424G>A) n.5791G>A | gnomAD v4 |
2 | g.43887177A= | CA2493970871 | LRPPRC | c.2375T= n.9472T= c.*1423T= (n.*1423T=) n.5790T= |