Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87530785_87530809delinsAAAAGAAAGAAAGCAAGAAAGCAAG | CA1723630872 | ABCB1 | c.2685+485_2685+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT (n.2685+485_2685+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT) n.327+485_327+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT n.313+485_313+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT c.2493+485_2493+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT (n.2493+485_2493+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT) c.2895+485_2895+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT (n.2895+485_2895+509delinsCTTGCTTTCTTGCTTTCTTTCTTTT) | |
7 | g.87530785_87530817delinsAAAAGAAAGAAAGCAAGAAAGCAAGAAAGCAAG | CA1723630868 | ABCB1 | c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT (n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT) n.327+477_327+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT n.313+477_313+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT c.2493+477_2493+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT (n.2493+477_2493+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT) c.2895+477_2895+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT (n.2895+477_2895+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT) | |
7 | g.87530790_87530813del | CA918067070 | ABCB1 | c.2685+485_2685+508del (n.2685+485_2685+508del) n.327+485_327+508del n.313+485_313+508del c.2493+485_2493+508del (n.2493+485_2493+508del) c.2895+485_2895+508del (n.2895+485_2895+508del) | dbSNP |
7 | g.87530790_87530821del | CA1723630883 | ABCB1 | c.2685+477_2685+508del (n.2685+477_2685+508del) n.327+477_327+508del n.313+477_313+508del c.2493+477_2493+508del (n.2493+477_2493+508del) c.2895+477_2895+508del (n.2895+477_2895+508del) | dbSNP |
7 | g.87530790_87530822delinsAAAGAAAGCAAGAAAGCAAGAAAGCAAGAAAGC | CA1723630910 | ABCB1 | c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT (n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT) n.327+472_327+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT n.313+472_313+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT c.2493+472_2493+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT (n.2493+472_2493+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT) c.2895+472_2895+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT (n.2895+472_2895+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT) | |
7 | g.87530838_87530845dup | CA162110361 | ABCB1 | c.2685+496_2685+503dup (n.2685+496_2685+503dup) n.327+496_327+503dup n.313+496_313+503dup c.2493+496_2493+503dup (n.2493+496_2493+503dup) c.2895+496_2895+503dup (n.2895+496_2895+503dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530830_87530845dup | CA575861917 | ABCB1 | c.2685+488_2685+503dup (n.2685+488_2685+503dup) n.327+488_327+503dup n.313+488_313+503dup c.2493+488_2493+503dup (n.2493+488_2493+503dup) c.2895+488_2895+503dup (n.2895+488_2895+503dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530822_87530845dup | CA1104125851 | ABCB1 | c.2685+480_2685+503dup (n.2685+480_2685+503dup) n.327+480_327+503dup n.313+480_313+503dup c.2493+480_2493+503dup (n.2493+480_2493+503dup) c.2895+480_2895+503dup (n.2895+480_2895+503dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530814_87530845dup | CA1104125853 | ABCB1 | c.2685+472_2685+503dup (n.2685+472_2685+503dup) n.327+472_327+503dup n.313+472_313+503dup c.2493+472_2493+503dup (n.2493+472_2493+503dup) c.2895+472_2895+503dup (n.2895+472_2895+503dup) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530838_87530845del | CA162110360 | ABCB1 | c.2685+496_2685+503del (n.2685+496_2685+503del) n.327+496_327+503del n.313+496_313+503del c.2493+496_2493+503del (n.2493+496_2493+503del) c.2895+496_2895+503del (n.2895+496_2895+503del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530830_87530845del | CA575861916 | ABCB1 | c.2685+488_2685+503del (n.2685+488_2685+503del) n.327+488_327+503del n.313+488_313+503del c.2493+488_2493+503del (n.2493+488_2493+503del) c.2895+488_2895+503del (n.2895+488_2895+503del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530822_87530845del | CA575861918 | ABCB1 | c.2685+480_2685+503del (n.2685+480_2685+503del) n.327+480_327+503del n.313+480_313+503del c.2493+480_2493+503del (n.2493+480_2493+503del) c.2895+480_2895+503del (n.2895+480_2895+503del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530814_87530845del | CA918067078 | ABCB1 | c.2685+472_2685+503del (n.2685+472_2685+503del) n.327+472_327+503del n.313+472_313+503del c.2493+472_2493+503del (n.2493+472_2493+503del) c.2895+472_2895+503del (n.2895+472_2895+503del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530808_87530809insAAAAGCAA | CA575861921 | ABCB1 | c.2685+492_2685+493insTTTGCTTT (n.2685+492_2685+493insTTTGCTTT) n.327+492_327+493insTTTGCTTT n.313+492_313+493insTTTGCTTT c.2493+492_2493+493insTTTGCTTT (n.2493+492_2493+493insTTTGCTTT) c.2895+492_2895+493insTTTGCTTT (n.2895+492_2895+493insTTTGCTTT) | gnomAD v2 |
7 | g.87530806_87530846delinsCAAGAAAGCAAGAAAGCAAGAAAGCAAGAAAGCAAGAAAGA | CA1723631022 | ABCB1 | c.2685+448_2685+488delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2685+448_2685+488delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) n.327+448_327+488delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG n.313+448_313+488delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG c.2493+448_2493+488delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2493+448_2493+488delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) c.2895+448_2895+488delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2895+448_2895+488delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) | |
7 | g.87530813_87530814insAAAGAAAG | CA1104125870 | ABCB1 | c.2685+487_2685+488insTCTTTCTT (n.2685+487_2685+488insTCTTTCTT) n.327+487_327+488insTCTTTCTT n.313+487_313+488insTCTTTCTT c.2493+487_2493+488insTCTTTCTT (n.2493+487_2493+488insTCTTTCTT) c.2895+487_2895+488insTCTTTCTT (n.2895+487_2895+488insTCTTTCTT) | gnomAD v3 gnomAD v4 |
7 | g.87530810_87530813dup | CA575861923 | ABCB1 | c.2685+484_2685+487dup (n.2685+484_2685+487dup) n.327+484_327+487dup n.313+484_313+487dup c.2493+484_2493+487dup (n.2493+484_2493+487dup) c.2895+484_2895+487dup (n.2895+484_2895+487dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530814_87530853del | CA575861922 | ABCB1 | c.2685+448_2685+487del (n.2685+448_2685+487del) n.327+448_327+487del n.313+448_313+487del c.2493+448_2493+487del (n.2493+448_2493+487del) c.2895+448_2895+487del (n.2895+448_2895+487del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530808A= | CA1723631037 | ABCB1 | c.2685+486T= (n.2685+486T=) n.327+486T= n.313+486T= c.2493+486T= (n.2493+486T=) c.2895+486T= (n.2895+486T=) | |
7 | g.87530808A>C | CA162110397 | ABCB1 | c.2685+486T>G (n.2685+486T>G) n.327+486T>G n.313+486T>G c.2493+486T>G (n.2493+486T>G) c.2895+486T>G (n.2895+486T>G) | dbSNP |
7 | g.87530808A>T | CA1723631033 | ABCB1 | c.2685+486T>A (n.2685+486T>A) n.327+486T>A n.313+486T>A c.2493+486T>A (n.2493+486T>A) c.2895+486T>A (n.2895+486T>A) | dbSNP |
7 | g.87530812dup | CA456356257 | ABCB1 | c.2685+484dup (n.2685+484dup) n.327+484dup n.313+484dup c.2493+484dup (n.2493+484dup) c.2895+484dup (n.2895+484dup) | |
7 | g.87530810_87530814delinsAAAGC | CA1723631046 | ABCB1 | c.2685+480_2685+484delinsGCTTT (n.2685+480_2685+484delinsGCTTT) n.327+480_327+484delinsGCTTT n.313+480_313+484delinsGCTTT c.2493+480_2493+484delinsGCTTT (n.2493+480_2493+484delinsGCTTT) c.2895+480_2895+484delinsGCTTT (n.2895+480_2895+484delinsGCTTT) | |
7 | g.87530810_87530822delinsAAAGCAAGAAAGC | CA1723631042 | ABCB1 | c.2685+472_2685+484delinsGCTTTCTTGCTTT (n.2685+472_2685+484delinsGCTTTCTTGCTTT) n.327+472_327+484delinsGCTTTCTTGCTTT n.313+472_313+484delinsGCTTTCTTGCTTT c.2493+472_2493+484delinsGCTTTCTTGCTTT (n.2493+472_2493+484delinsGCTTTCTTGCTTT) c.2895+472_2895+484delinsGCTTTCTTGCTTT (n.2895+472_2895+484delinsGCTTTCTTGCTTT) | |
7 | g.87530811_87530814delinsAAGC | CA1723631048 | ABCB1 | c.2685+480_2685+483delinsGCTT (n.2685+480_2685+483delinsGCTT) n.327+480_327+483delinsGCTT n.313+480_313+483delinsGCTT c.2493+480_2493+483delinsGCTT (n.2493+480_2493+483delinsGCTT) c.2895+480_2895+483delinsGCTT (n.2895+480_2895+483delinsGCTT) | |
7 | g.87530814_87530817del | CA1104125873 | ABCB1 | c.2685+480_2685+483del (n.2685+480_2685+483del) n.327+480_327+483del n.313+480_313+483del c.2493+480_2493+483del (n.2493+480_2493+483del) c.2895+480_2895+483del (n.2895+480_2895+483del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530814_87530825del | CA843378611 | ABCB1 | c.2685+472_2685+483del (n.2685+472_2685+483del) n.327+472_327+483del n.313+472_313+483del c.2493+472_2493+483del (n.2493+472_2493+483del) c.2895+472_2895+483del (n.2895+472_2895+483del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530814_87530833del | CA2511461657 | ABCB1 | c.2685+464_2685+483del (n.2685+464_2685+483del) n.327+464_327+483del n.313+464_313+483del c.2493+464_2493+483del (n.2493+464_2493+483del) c.2895+464_2895+483del (n.2895+464_2895+483del) | |
7 | g.87530812A= | CA1723631057 | ABCB1 | c.2685+482T= (n.2685+482T=) n.327+482T= n.313+482T= c.2493+482T= (n.2493+482T=) c.2895+482T= (n.2895+482T=) | |
7 | g.87530812A>C | CA162110400 | ABCB1 | c.2685+482T>G (n.2685+482T>G) n.327+482T>G n.313+482T>G c.2493+482T>G (n.2493+482T>G) c.2895+482T>G (n.2895+482T>G) | dbSNP |
7 | g.87530813_87530815del | CA1723631058 | ABCB1 | c.2685+480_2685+482del (n.2685+480_2685+482del) n.327+480_327+482del n.313+480_313+482del c.2493+480_2493+482del (n.2493+480_2493+482del) c.2895+480_2895+482del (n.2895+480_2895+482del) | dbSNP |
7 | g.87530813G>A | CA1723631060 | ABCB1 | c.2685+481C>T (n.2685+481C>T) n.327+481C>T n.313+481C>T c.2493+481C>T (n.2493+481C>T) c.2895+481C>T (n.2895+481C>T) | dbSNP |
7 | g.87530813G= | CA1723631059 | ABCB1 | c.2685+481C= (n.2685+481C=) n.327+481C= n.313+481C= c.2493+481C= (n.2493+481C=) c.2895+481C= (n.2895+481C=) | |
7 | g.87530813G>T | CA1723631061 | ABCB1 | c.2685+481C>A (n.2685+481C>A) n.327+481C>A n.313+481C>A c.2493+481C>A (n.2493+481C>A) c.2895+481C>A (n.2895+481C>A) | dbSNP |
7 | g.87530813_87530814delinsGC | CA1723631062 | ABCB1 | c.2685+480_2685+481delinsGC (n.2685+480_2685+481delinsGC) n.327+480_327+481delinsGC n.313+480_313+481delinsGC c.2493+480_2493+481delinsGC (n.2493+480_2493+481delinsGC) c.2895+480_2895+481delinsGC (n.2895+480_2895+481delinsGC) | |
7 | g.87530814del | CA1104125880 | ABCB1 | c.2685+480del (n.2685+480del) n.327+480del n.313+480del c.2493+480del (n.2493+480del) c.2895+480del (n.2895+480del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.87530814C>A | CA575861924 | ABCB1 | c.2685+480G>T (n.2685+480G>T) n.327+480G>T n.313+480G>T c.2493+480G>T (n.2493+480G>T) c.2895+480G>T (n.2895+480G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.87530814C= | CA1723631069 | ABCB1 | c.2685+480G= (n.2685+480G=) n.327+480G= n.313+480G= c.2493+480G= (n.2493+480G=) c.2895+480G= (n.2895+480G=) | |
7 | g.87530814C>G | CA162110429 | ABCB1 | c.2685+480G>C (n.2685+480G>C) n.327+480G>C n.313+480G>C c.2493+480G>C (n.2493+480G>C) c.2895+480G>C (n.2895+480G>C) | dbSNP |
7 | g.87530814C>T | CA2776825813 | ABCB1 | c.2685+480G>A (n.2685+480G>A) n.327+480G>A n.313+480G>A c.2493+480G>A (n.2493+480G>A) c.2895+480G>A (n.2895+480G>A) | |
7 | g.87530814_87530842delinsCAAGAAAGCAAGAAAGCAAGAAAGCAAGA | CA1723631070 | ABCB1 | c.2685+452_2685+480delinsTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2685+452_2685+480delinsTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) n.327+452_327+480delinsTCTTGCTTTCTTGCTTTCTTGCTTTCTTG n.313+452_313+480delinsTCTTGCTTTCTTGCTTTCTTGCTTTCTTG c.2493+452_2493+480delinsTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2493+452_2493+480delinsTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) c.2895+452_2895+480delinsTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2895+452_2895+480delinsTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) | |
7 | g.87530814_87530846delinsCAAGAAAGCAAGAAAGCAAGAAAGCAAGAAAGA | CA1723631071 | ABCB1 | c.2685+448_2685+480delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2685+448_2685+480delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) n.327+448_327+480delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG n.313+448_313+480delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG c.2493+448_2493+480delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2493+448_2493+480delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) c.2895+448_2895+480delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2895+448_2895+480delinsTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) | |
7 | g.87530814_87530850delinsCAAGAAAGCAAGAAAGCAAGAAAGCAAGAAAGAAAGA | CA1723631072 | ABCB1 | c.2685+444_2685+480delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2685+444_2685+480delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) n.327+444_327+480delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG n.313+444_313+480delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG c.2493+444_2493+480delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2493+444_2493+480delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) c.2895+444_2895+480delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG (n.2895+444_2895+480delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG) | |
7 | g.87530816_87530820dup | CA1723631083 | ABCB1 | c.2685+475_2685+479dup (n.2685+475_2685+479dup) n.327+475_327+479dup n.313+475_313+479dup c.2493+475_2493+479dup (n.2493+475_2493+479dup) c.2895+475_2895+479dup (n.2895+475_2895+479dup) | dbSNP |
7 | g.87530821_87530822insAAAGAAAG | CA575861926 | ABCB1 | c.2685+479_2685+480insTCTTTCTT (n.2685+479_2685+480insTCTTTCTT) n.327+479_327+480insTCTTTCTT n.313+479_313+480insTCTTTCTT c.2493+479_2493+480insTCTTTCTT (n.2493+479_2493+480insTCTTTCTT) c.2895+479_2895+480insTCTTTCTT (n.2895+479_2895+480insTCTTTCTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530818_87530821dup | CA575861927 | ABCB1 | c.2685+476_2685+479dup (n.2685+476_2685+479dup) n.327+476_327+479dup n.313+476_313+479dup c.2493+476_2493+479dup (n.2493+476_2493+479dup) c.2895+476_2895+479dup (n.2895+476_2895+479dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530822_87530849del | CA575861925 | ABCB1 | c.2685+452_2685+479del (n.2685+452_2685+479del) n.327+452_327+479del n.313+452_313+479del c.2493+452_2493+479del (n.2493+452_2493+479del) c.2895+452_2895+479del (n.2895+452_2895+479del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530822_87530853del | CA575861928 | ABCB1 | c.2685+448_2685+479del (n.2685+448_2685+479del) n.327+448_327+479del n.313+448_313+479del c.2493+448_2493+479del (n.2493+448_2493+479del) c.2895+448_2895+479del (n.2895+448_2895+479del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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.87530816A= | CA1723631086 | ABCB1 | c.2685+478T= (n.2685+478T=) n.327+478T= n.313+478T= c.2493+478T= (n.2493+478T=) c.2895+478T= (n.2895+478T=) |