Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87530822_87530857del | CA1104125884 | ABCB1 | c.2685+444_2685+479del (n.2685+444_2685+479del) n.327+444_327+479del n.313+444_313+479del c.2493+444_2493+479del (n.2493+444_2493+479del) c.2895+444_2895+479del (n.2895+444_2895+479del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530822_87530858delinsCAAGAAAGCAAGAAAGCAAGAAAGAAAGAAAGAAAGA | CA1723631120 | ABCB1 | c.2685+436_2685+472delinsTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2685+436_2685+472delinsTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) n.327+436_327+472delinsTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG n.313+436_313+472delinsTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG c.2493+436_2493+472delinsTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2493+436_2493+472delinsTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) c.2895+436_2895+472delinsTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2895+436_2895+472delinsTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) | |
7 | g.87530822_87530862delinsCAAGAAAGCAAGAAAGCAAGAAAGAAAGAAAGAAAGAAAGA | CA1723631119 | ABCB1 | c.2685+432_2685+472delinsTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2685+432_2685+472delinsTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) n.327+432_327+472delinsTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG n.313+432_313+472delinsTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG c.2493+432_2493+472delinsTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2493+432_2493+472delinsTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) c.2895+432_2895+472delinsTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2895+432_2895+472delinsTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) | |
7 | g.87530830_87530857del | CA575861932 | ABCB1 | c.2685+444_2685+471del (n.2685+444_2685+471del) n.327+444_327+471del n.313+444_313+471del c.2493+444_2493+471del (n.2493+444_2493+471del) c.2895+444_2895+471del (n.2895+444_2895+471del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530830_87530861del | CA575861933 | ABCB1 | c.2685+440_2685+471del (n.2685+440_2685+471del) n.327+440_327+471del n.313+440_313+471del c.2493+440_2493+471del (n.2493+440_2493+471del) c.2895+440_2895+471del (n.2895+440_2895+471del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530830_87530865del | CA1104125953 | ABCB1 | c.2685+436_2685+471del (n.2685+436_2685+471del) n.327+436_327+471del n.313+436_313+471del c.2493+436_2493+471del (n.2493+436_2493+471del) c.2895+436_2895+471del (n.2895+436_2895+471del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530830_87530869del | CA1104125950 | ABCB1 | c.2685+432_2685+471del (n.2685+432_2685+471del) n.327+432_327+471del n.313+432_313+471del c.2493+432_2493+471del (n.2493+432_2493+471del) c.2895+432_2895+471del (n.2895+432_2895+471del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530838_87530857del | CA575861941 | ABCB1 | c.2685+444_2685+463del (n.2685+444_2685+463del) n.327+444_327+463del n.313+444_313+463del c.2493+444_2493+463del (n.2493+444_2493+463del) c.2895+444_2895+463del (n.2895+444_2895+463del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530838_87530861del | CA843378732 | ABCB1 | c.2685+440_2685+463del (n.2685+440_2685+463del) n.327+440_327+463del n.313+440_313+463del c.2493+440_2493+463del (n.2493+440_2493+463del) c.2895+440_2895+463del (n.2895+440_2895+463del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530873_87530876dup | CA456356265 | ABCB1 | c.2685+452_2685+455dup (n.2685+452_2685+455dup) n.327+452_327+455dup n.313+452_313+455dup c.2493+452_2493+455dup (n.2493+452_2493+455dup) c.2895+452_2895+455dup (n.2895+452_2895+455dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530869_87530876dup | CA575861948 | ABCB1 | c.2685+448_2685+455dup (n.2685+448_2685+455dup) n.327+448_327+455dup n.313+448_313+455dup c.2493+448_2493+455dup (n.2493+448_2493+455dup) c.2895+448_2895+455dup (n.2895+448_2895+455dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530865_87530876dup | CA456356268 | ABCB1 | c.2685+444_2685+455dup (n.2685+444_2685+455dup) n.327+444_327+455dup n.313+444_313+455dup c.2493+444_2493+455dup (n.2493+444_2493+455dup) c.2895+444_2895+455dup (n.2895+444_2895+455dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530861_87530876dup | CA843378804 | ABCB1 | c.2685+440_2685+455dup (n.2685+440_2685+455dup) n.327+440_327+455dup n.313+440_313+455dup c.2493+440_2493+455dup (n.2493+440_2493+455dup) c.2895+440_2895+455dup (n.2895+440_2895+455dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530857_87530876dup | CA843378798 | ABCB1 | c.2685+436_2685+455dup (n.2685+436_2685+455dup) n.327+436_327+455dup n.313+436_313+455dup c.2493+436_2493+455dup (n.2493+436_2493+455dup) c.2895+436_2895+455dup (n.2895+436_2895+455dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530853_87530876dup | CA1104126065 | ABCB1 | c.2685+432_2685+455dup (n.2685+432_2685+455dup) n.327+432_327+455dup n.313+432_313+455dup c.2493+432_2493+455dup (n.2493+432_2493+455dup) c.2895+432_2895+455dup (n.2895+432_2895+455dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530849_87530876dup | CA1104126067 | ABCB1 | c.2685+428_2685+455dup (n.2685+428_2685+455dup) n.327+428_327+455dup n.313+428_313+455dup c.2493+428_2493+455dup (n.2493+428_2493+455dup) c.2895+428_2895+455dup (n.2895+428_2895+455dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530845_87530876dup | CA1104126066 | ABCB1 | c.2685+424_2685+455dup (n.2685+424_2685+455dup) n.327+424_327+455dup n.313+424_313+455dup c.2493+424_2493+455dup (n.2493+424_2493+455dup) c.2895+424_2895+455dup (n.2895+424_2895+455dup) | gnomAD v3 gnomAD v4 |
7 | g.87530873_87530876del | CA575861947 | ABCB1 | c.2685+452_2685+455del (n.2685+452_2685+455del) n.327+452_327+455del n.313+452_313+455del c.2493+452_2493+455del (n.2493+452_2493+455del) c.2895+452_2895+455del (n.2895+452_2895+455del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530869_87530876del | CA843378782 | ABCB1 | c.2685+448_2685+455del (n.2685+448_2685+455del) n.327+448_327+455del n.313+448_313+455del c.2493+448_2493+455del (n.2493+448_2493+455del) c.2895+448_2895+455del (n.2895+448_2895+455del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530865_87530876del | CA843378785 | ABCB1 | c.2685+444_2685+455del (n.2685+444_2685+455del) n.327+444_327+455del n.313+444_313+455del c.2493+444_2493+455del (n.2493+444_2493+455del) c.2895+444_2895+455del (n.2895+444_2895+455del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530858_87530859insCAGAAAGAAAGA | CA2776825843 | ABCB1 | c.2685+446_2685+447insGTCTTTCTTTCT (n.2685+446_2685+447insGTCTTTCTTTCT) n.327+446_327+447insGTCTTTCTTTCT n.313+446_313+447insGTCTTTCTTTCT c.2493+446_2493+447insGTCTTTCTTTCT (n.2493+446_2493+447insGTCTTTCTTTCT) c.2895+446_2895+447insGTCTTTCTTTCT (n.2895+446_2895+447insGTCTTTCTTTCT) | |
7 | g.87530852_87530856dup | CA1104126109 | ABCB1 | c.2685+440_2685+444dup (n.2685+440_2685+444dup) n.327+440_327+444dup n.313+440_313+444dup c.2493+440_2493+444dup (n.2493+440_2493+444dup) c.2895+440_2895+444dup (n.2895+440_2895+444dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530851_87530856dup | CA1104126110 | ABCB1 | c.2685+439_2685+444dup (n.2685+439_2685+444dup) n.327+439_327+444dup n.313+439_313+444dup c.2493+439_2493+444dup (n.2493+439_2493+444dup) c.2895+439_2895+444dup (n.2895+439_2895+444dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530851_87530860dup | CA1104126127 | ABCB1 | c.2685+435_2685+444dup (n.2685+435_2685+444dup) n.327+435_327+444dup n.313+435_313+444dup c.2493+435_2493+444dup (n.2493+435_2493+444dup) c.2895+435_2895+444dup (n.2895+435_2895+444dup) | gnomAD v3 gnomAD v4 |
7 | g.87530851_87530868dup | CA1104126134 | ABCB1 | c.2685+427_2685+444dup (n.2685+427_2685+444dup) n.327+427_327+444dup n.313+427_313+444dup c.2493+427_2493+444dup (n.2493+427_2493+444dup) c.2895+427_2895+444dup (n.2895+427_2895+444dup) | gnomAD v3 gnomAD v4 |
7 | g.87530856dup | CA843378851 | ABCB1 | c.2685+440dup (n.2685+440dup) n.327+440dup n.313+440dup c.2493+440dup (n.2493+440dup) c.2895+440dup (n.2895+440dup) | dbSNP |
7 | g.87530854_87530857delinsAAAG | CA1723631397 | ABCB1 | c.2685+437_2685+440delinsCTTT (n.2685+437_2685+440delinsCTTT) n.327+437_327+440delinsCTTT n.313+437_313+440delinsCTTT c.2493+437_2493+440delinsCTTT (n.2493+437_2493+440delinsCTTT) c.2895+437_2895+440delinsCTTT (n.2895+437_2895+440delinsCTTT) | |
7 | g.87530864_87530865insAAAAAAAAAAAAGAAAGAAA | CA2843956863 | ABCB1 | c.2685+440_2685+441insTTTTTTTTTTTTCTTTCTTT (n.2685+440_2685+441insTTTTTTTTTTTTCTTTCTTT) n.327+440_327+441insTTTTTTTTTTTTCTTTCTTT n.313+440_313+441insTTTTTTTTTTTTCTTTCTTT c.2493+440_2493+441insTTTTTTTTTTTTCTTTCTTT (n.2493+440_2493+441insTTTTTTTTTTTTCTTTCTTT) c.2895+440_2895+441insTTTTTTTTTTTTCTTTCTTT (n.2895+440_2895+441insTTTTTTTTTTTTCTTTCTTT) | |
7 | g.87530856_87530864dup | CA1723631392 | ABCB1 | c.2685+432_2685+440dup (n.2685+432_2685+440dup) n.327+432_327+440dup n.313+432_313+440dup c.2493+432_2493+440dup (n.2493+432_2493+440dup) c.2895+432_2895+440dup (n.2895+432_2895+440dup) | dbSNP |
7 | g.87530868_87530869insAAAAGAAAGAAAGAAA | CA1104126151 | ABCB1 | c.2685+440_2685+441insTTTTCTTTCTTTCTTT (n.2685+440_2685+441insTTTTCTTTCTTTCTTT) n.327+440_327+441insTTTTCTTTCTTTCTTT n.313+440_313+441insTTTTCTTTCTTTCTTT c.2493+440_2493+441insTTTTCTTTCTTTCTTT (n.2493+440_2493+441insTTTTCTTTCTTTCTTT) c.2895+440_2895+441insTTTTCTTTCTTTCTTT (n.2895+440_2895+441insTTTTCTTTCTTTCTTT) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530855_87530857delinsAAG | CA1723631402 | ABCB1 | c.2685+437_2685+439delinsCTT (n.2685+437_2685+439delinsCTT) n.327+437_327+439delinsCTT n.313+437_313+439delinsCTT c.2493+437_2493+439delinsCTT (n.2493+437_2493+439delinsCTT) c.2895+437_2895+439delinsCTT (n.2895+437_2895+439delinsCTT) | |
7 | g.87530857_87530859del | CA162110542 | ABCB1 | c.2685+437_2685+439del (n.2685+437_2685+439del) n.327+437_327+439del n.313+437_313+439del c.2493+437_2493+439del (n.2493+437_2493+439del) c.2895+437_2895+439del (n.2895+437_2895+439del) | dbSNP |
7 | g.87530856A>T | CA1104126162 | ABCB1 | c.2685+438T>A (n.2685+438T>A) n.327+438T>A n.313+438T>A c.2493+438T>A (n.2493+438T>A) c.2895+438T>A (n.2895+438T>A) | gnomAD v3 gnomAD v4 |
7 | g.87530857_87530858del | CA843378859 | ABCB1 | c.2685+437_2685+438del (n.2685+437_2685+438del) n.327+437_327+438del n.313+437_313+438del c.2493+437_2493+438del (n.2493+437_2493+438del) c.2895+437_2895+438del (n.2895+437_2895+438del) | dbSNP |
7 | g.87530857G>A | CA843378860 | ABCB1 | c.2685+437C>T (n.2685+437C>T) n.327+437C>T n.313+437C>T c.2493+437C>T (n.2493+437C>T) c.2895+437C>T (n.2895+437C>T) | dbSNP |
7 | g.87530857G= | CA1723631413 | ABCB1 | c.2685+437C= (n.2685+437C=) n.327+437C= n.313+437C= c.2493+437C= (n.2493+437C=) c.2895+437C= (n.2895+437C=) | |
7 | g.87530858A= | CA1723631416 | ABCB1 | c.2685+436T= (n.2685+436T=) n.327+436T= n.313+436T= c.2493+436T= (n.2493+436T=) c.2895+436T= (n.2895+436T=) | |
7 | g.87530858A>C | CA843378862 | ABCB1 | c.2685+436T>G (n.2685+436T>G) n.327+436T>G n.313+436T>G c.2493+436T>G (n.2493+436T>G) c.2895+436T>G (n.2895+436T>G) | dbSNP |
7 | g.87530860_87530861insAAAA | CA843378863 | ABCB1 | c.2685+436_2685+437insTTTT (n.2685+436_2685+437insTTTT) n.327+436_327+437insTTTT n.313+436_313+437insTTTT c.2493+436_2493+437insTTTT (n.2493+436_2493+437insTTTT) c.2895+436_2895+437insTTTT (n.2895+436_2895+437insTTTT) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530860dup | CA1723631418 | ABCB1 | c.2685+436dup (n.2685+436dup) n.327+436dup n.313+436dup c.2493+436dup (n.2493+436dup) c.2895+436dup (n.2895+436dup) | dbSNP |
7 | g.87530859_87530864dup | CA843378861 | ABCB1 | c.2685+431_2685+436dup (n.2685+431_2685+436dup) n.327+431_327+436dup n.313+431_313+436dup c.2493+431_2493+436dup (n.2493+431_2493+436dup) c.2895+431_2895+436dup (n.2895+431_2895+436dup) | dbSNP |
7 | g.87530859_87530872dup | CA2601259712 | ABCB1 | c.2685+423_2685+436dup (n.2685+423_2685+436dup) n.327+423_327+436dup n.313+423_313+436dup c.2493+423_2493+436dup (n.2493+423_2493+436dup) c.2895+423_2895+436dup (n.2895+423_2895+436dup) | gnomAD v3 gnomAD v4 |
7 | g.87530865_87530891del | CA1104126163 | ABCB1 | c.2685+410_2685+436del (n.2685+410_2685+436del) n.327+410_327+436del n.313+410_313+436del c.2493+410_2493+436del (n.2493+410_2493+436del) c.2895+410_2895+436del (n.2895+410_2895+436del) | gnomAD v3 gnomAD v4 |
7 | g.87530859_87530861delinsAAG | CA1723631421 | ABCB1 | c.2685+433_2685+435delinsCTT (n.2685+433_2685+435delinsCTT) n.327+433_327+435delinsCTT n.313+433_313+435delinsCTT c.2493+433_2493+435delinsCTT (n.2493+433_2493+435delinsCTT) c.2895+433_2895+435delinsCTT (n.2895+433_2895+435delinsCTT) | |
7 | g.87530861_87530862del | CA843378867 | ABCB1 | c.2685+433_2685+434del (n.2685+433_2685+434del) n.327+433_327+434del n.313+433_313+434del c.2493+433_2493+434del (n.2493+433_2493+434del) c.2895+433_2895+434del (n.2895+433_2895+434del) | dbSNP |
7 | g.87530861G>A | CA843378869 | ABCB1 | c.2685+433C>T (n.2685+433C>T) n.327+433C>T n.313+433C>T c.2493+433C>T (n.2493+433C>T) c.2895+433C>T (n.2895+433C>T) | dbSNP |
7 | g.87530861G= | CA1723631426 | ABCB1 | c.2685+433C= (n.2685+433C=) n.327+433C= n.313+433C= c.2493+433C= (n.2493+433C=) c.2895+433C= (n.2895+433C=) | |
7 | g.87530861G>T | CA1723631430 | ABCB1 | c.2685+433C>A (n.2685+433C>A) n.327+433C>A n.313+433C>A c.2493+433C>A (n.2493+433C>A) c.2895+433C>A (n.2895+433C>A) | dbSNP |
7 | g.87530861_87530864delinsGAAA | CA1723631428 | ABCB1 | c.2685+430_2685+433delinsTTTC (n.2685+430_2685+433delinsTTTC) n.327+430_327+433delinsTTTC n.313+430_313+433delinsTTTC c.2493+430_2493+433delinsTTTC (n.2493+430_2493+433delinsTTTC) c.2895+430_2895+433delinsTTTC (n.2895+430_2895+433delinsTTTC) | |
7 | g.87530862A= | CA1723631435 | ABCB1 | c.2685+432T= (n.2685+432T=) n.327+432T= n.313+432T= c.2493+432T= (n.2493+432T=) c.2895+432T= (n.2895+432T=) |