Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.87530822_87530850delinsCAAGAAAGCAAGAAAGCAAGAAAGAAAGA | CA1723631122 | ABCB1 | c.2685+444_2685+472delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2685+444_2685+472delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) n.327+444_327+472delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTG n.313+444_313+472delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTG c.2493+444_2493+472delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2493+444_2493+472delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) c.2895+444_2895+472delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2895+444_2895+472delinsTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) | |
7 | g.87530822_87530854delinsCAAGAAAGCAAGAAAGCAAGAAAGAAAGAAAGA | CA1723631124 | ABCB1 | c.2685+440_2685+472delinsTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2685+440_2685+472delinsTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) n.327+440_327+472delinsTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG n.313+440_313+472delinsTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG c.2493+440_2493+472delinsTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2493+440_2493+472delinsTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) c.2895+440_2895+472delinsTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG (n.2895+440_2895+472delinsTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTG) | |
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_87530849del | CA456356258 | ABCB1 | c.2685+452_2685+471del (n.2685+452_2685+471del) n.327+452_327+471del n.313+452_313+471del c.2493+452_2493+471del (n.2493+452_2493+471del) c.2895+452_2895+471del (n.2895+452_2895+471del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530830_87530853del | CA162110440 | ABCB1 | c.2685+448_2685+471del (n.2685+448_2685+471del) n.327+448_327+471del n.313+448_313+471del c.2493+448_2493+471del (n.2493+448_2493+471del) c.2895+448_2895+471del (n.2895+448_2895+471del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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.87530830_87530848del | CA575861939 | ABCB1 | c.2685+446_2685+464del (n.2685+446_2685+464del) n.327+446_327+464del n.313+446_313+464del c.2493+446_2493+464del (n.2493+446_2493+464del) c.2895+446_2895+464del (n.2895+446_2895+464del) | gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530830_87530850delinsCAAGAAAGCAAGAAAGAAAGA | CA1723631170 | ABCB1 | c.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG (n.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG) n.327+444_327+464delinsTCTTTCTTTCTTGCTTTCTTG n.313+444_313+464delinsTCTTTCTTTCTTGCTTTCTTG c.2493+444_2493+464delinsTCTTTCTTTCTTGCTTTCTTG (n.2493+444_2493+464delinsTCTTTCTTTCTTGCTTTCTTG) c.2895+444_2895+464delinsTCTTTCTTTCTTGCTTTCTTG (n.2895+444_2895+464delinsTCTTTCTTTCTTGCTTTCTTG) | |
7 | g.87530830_87530854delinsCAAGAAAGCAAGAAAGAAAGAAAGA | CA1723631169 | ABCB1 | c.2685+440_2685+464delinsTCTTTCTTTCTTTCTTGCTTTCTTG (n.2685+440_2685+464delinsTCTTTCTTTCTTTCTTGCTTTCTTG) n.327+440_327+464delinsTCTTTCTTTCTTTCTTGCTTTCTTG n.313+440_313+464delinsTCTTTCTTTCTTTCTTGCTTTCTTG c.2493+440_2493+464delinsTCTTTCTTTCTTTCTTGCTTTCTTG (n.2493+440_2493+464delinsTCTTTCTTTCTTTCTTGCTTTCTTG) c.2895+440_2895+464delinsTCTTTCTTTCTTTCTTGCTTTCTTG (n.2895+440_2895+464delinsTCTTTCTTTCTTTCTTGCTTTCTTG) | |
7 | g.87530838_87530849del | CA162110476 | ABCB1 | c.2685+452_2685+463del (n.2685+452_2685+463del) n.327+452_327+463del n.313+452_313+463del c.2493+452_2493+463del (n.2493+452_2493+463del) c.2895+452_2895+463del (n.2895+452_2895+463del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87530838_87530853del | CA843378742 | ABCB1 | c.2685+448_2685+463del (n.2685+448_2685+463del) n.327+448_327+463del n.313+448_313+463del c.2493+448_2493+463del (n.2493+448_2493+463del) c.2895+448_2895+463del (n.2895+448_2895+463del) | 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.87530838_87530850delinsCAAGAAAGAAAGA | CA1723631242 | ABCB1 | c.2685+444_2685+456delinsTCTTTCTTTCTTG (n.2685+444_2685+456delinsTCTTTCTTTCTTG) n.327+444_327+456delinsTCTTTCTTTCTTG n.313+444_313+456delinsTCTTTCTTTCTTG c.2493+444_2493+456delinsTCTTTCTTTCTTG (n.2493+444_2493+456delinsTCTTTCTTTCTTG) c.2895+444_2895+456delinsTCTTTCTTTCTTG (n.2895+444_2895+456delinsTCTTTCTTTCTTG) | |
7 | g.87530853_87530854insCAAGAAAGAAAGAAAGAAAGAAAG | CA1104126072 | ABCB1 | c.2685+455_2685+456insTCTTTCTTGCTTTCTTTCTTTCTT (n.2685+455_2685+456insTCTTTCTTGCTTTCTTTCTTTCTT) n.327+455_327+456insTCTTTCTTGCTTTCTTTCTTTCTT n.313+455_313+456insTCTTTCTTGCTTTCTTTCTTTCTT c.2493+455_2493+456insTCTTTCTTGCTTTCTTTCTTTCTT (n.2493+455_2493+456insTCTTTCTTGCTTTCTTTCTTTCTT) c.2895+455_2895+456insTCTTTCTTGCTTTCTTTCTTTCTT (n.2895+455_2895+456insTCTTTCTTGCTTTCTTTCTTTCTT) | 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.87530853_87530854insCAAGAAAGAAAG | CA918067097 | ABCB1 | c.2685+451_2685+452insGCTTTCTTTCTT (n.2685+451_2685+452insGCTTTCTTTCTT) n.327+451_327+452insGCTTTCTTTCTT n.313+451_313+452insGCTTTCTTTCTT c.2493+451_2493+452insGCTTTCTTTCTT (n.2493+451_2493+452insGCTTTCTTTCTT) c.2895+451_2895+452insGCTTTCTTTCTT (n.2895+451_2895+452insGCTTTCTTTCTT) | dbSNP |
7 | g.87530848dup | CA1723631334 | ABCB1 | c.2685+448dup (n.2685+448dup) n.327+448dup n.313+448dup c.2493+448dup (n.2493+448dup) c.2895+448dup (n.2895+448dup) | dbSNP |
7 | g.87530846_87530849delinsAAAG | CA1723631328 | ABCB1 | c.2685+445_2685+448delinsCTTT (n.2685+445_2685+448delinsCTTT) n.327+445_327+448delinsCTTT n.313+445_313+448delinsCTTT c.2493+445_2493+448delinsCTTT (n.2493+445_2493+448delinsCTTT) c.2895+445_2895+448delinsCTTT (n.2895+445_2895+448delinsCTTT) | |
7 | g.87530847_87530852dup | CA1723631332 | ABCB1 | c.2685+443_2685+448dup (n.2685+443_2685+448dup) n.327+443_327+448dup n.313+443_313+448dup c.2493+443_2493+448dup (n.2493+443_2493+448dup) c.2895+443_2895+448dup (n.2895+443_2895+448dup) | dbSNP |
7 | g.87530847_87530849delinsAAG | CA1723631347 | ABCB1 | c.2685+445_2685+447delinsCTT (n.2685+445_2685+447delinsCTT) n.327+445_327+447delinsCTT n.313+445_313+447delinsCTT c.2493+445_2493+447delinsCTT (n.2493+445_2493+447delinsCTT) c.2895+445_2895+447delinsCTT (n.2895+445_2895+447delinsCTT) | |
7 | g.87530849_87530851del | CA1723631345 | ABCB1 | c.2685+445_2685+447del (n.2685+445_2685+447del) n.327+445_327+447del n.313+445_313+447del c.2493+445_2493+447del (n.2493+445_2493+447del) c.2895+445_2895+447del (n.2895+445_2895+447del) | dbSNP |
7 | g.87530848A= | CA1723631361 | ABCB1 | c.2685+446T= (n.2685+446T=) n.327+446T= n.313+446T= c.2493+446T= (n.2493+446T=) c.2895+446T= (n.2895+446T=) | |
7 | g.87530848A>G | CA1723631363 | ABCB1 | c.2685+446T>C (n.2685+446T>C) n.327+446T>C n.313+446T>C c.2493+446T>C (n.2493+446T>C) c.2895+446T>C (n.2895+446T>C) | dbSNP |
7 | g.87530848A>T | CA1723631359 | ABCB1 | c.2685+446T>A (n.2685+446T>A) n.327+446T>A n.313+446T>A c.2493+446T>A (n.2493+446T>A) c.2895+446T>A (n.2895+446T>A) | dbSNP |
7 | g.87530849_87530850del | CA575861954 | ABCB1 | c.2685+445_2685+446del (n.2685+445_2685+446del) n.327+445_327+446del n.313+445_313+446del c.2493+445_2493+446del (n.2493+445_2493+446del) c.2895+445_2895+446del (n.2895+445_2895+446del) | dbSNP gnomAD v2 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.87530849G>A | CA843378841 | ABCB1 | c.2685+445C>T (n.2685+445C>T) n.327+445C>T n.313+445C>T c.2493+445C>T (n.2493+445C>T) c.2895+445C>T (n.2895+445C>T) | dbSNP |
7 | g.87530849G= | CA1723631369 | ABCB1 | c.2685+445C= (n.2685+445C=) n.327+445C= n.313+445C= c.2493+445C= (n.2493+445C=) c.2895+445C= (n.2895+445C=) | |
7 | g.87530849_87530852delinsGAAA | CA1723631371 | ABCB1 | c.2685+442_2685+445delinsTTTC (n.2685+442_2685+445delinsTTTC) n.327+442_327+445delinsTTTC n.313+442_313+445delinsTTTC c.2493+442_2493+445delinsTTTC (n.2493+442_2493+445delinsTTTC) c.2895+442_2895+445delinsTTTC (n.2895+442_2895+445delinsTTTC) | |
7 | g.87530849_87530850insCAAGAAAGAAAGAAAGAAAGAAAGAAAGAA | CA1104126144 | ABCB1 | c.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG (n.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG) n.327+444_327+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG n.313+444_313+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG c.2493+444_2493+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG (n.2493+444_2493+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG) c.2895+444_2895+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG (n.2895+444_2895+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG) | gnomAD v3 gnomAD v4 |