Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.55234822A>C | CA392530840 | RAB27A | n.2149T>G c.113T>G (p.Phe38Cys) | |
15 | g.55234822A>G | CA392530841 | RAB27A | n.2149T>C c.113T>C (p.Phe38Ser) | |
15 | g.55234822A>T | CA392530842 | RAB27A | n.2149T>A c.113T>A (p.Phe38Tyr) | |
15 | g.55234823A>C | CA392530845 | RAB27A | n.2148T>G c.112T>G (p.Phe38Val) | |
15 | g.55234823A>G | CA392530843 | RAB27A | n.2148T>C c.112T>C (p.Phe38Leu) | ClinVar gnomAD v4 |
15 | g.55234823A>T | CA392530844 | RAB27A | n.2148T>A c.112T>A (p.Phe38Ile) | |
15 | g.55234824T>A | CA392530846 | RAB27A | n.2147A>T c.111A>T (p.Lys37Asn) | |
15 | g.55234824T>C | CA490429329 | RAB27A | n.2147A>G c.111A>G (p.Lys37=) | |
15 | g.55234824T>G | CA392530847 | RAB27A | n.2147A>C c.111A>C (p.Lys37Asn) | gnomAD v4 |
15 | g.55234825T>A | CA392530848 | RAB27A | n.2146A>T c.110A>T (p.Lys37Ile) | |
15 | g.55234825T>C | CA392530849 | RAB27A | n.2146A>G c.110A>G (p.Lys37Arg) | |
15 | g.55234825T>G | CA392530850 | RAB27A | n.2146A>C c.110A>C (p.Lys37Thr) | dbSNP gnomAD v4 |
15 | g.55234825T= | CA2178725658 | RAB27A | n.2146A= c.110A= (p.Lys37=) | |
15 | g.55234826T>A | CA392530851 | RAB27A | n.2145A>T c.109A>T (p.Lys37Ter) | |
15 | g.55234826T>C | CA392530853 | RAB27A | n.2145A>G c.109A>G (p.Lys37Glu) | |
15 | g.55234826T>G | CA392530852 | RAB27A | n.2145A>C c.109A>C (p.Lys37Gln) | |
15 | g.55234827G>A | CA490429330 | RAB27A | n.2144C>T c.108C>T (p.Ser36=) | |
15 | g.55234827G>C | CA490429332 | RAB27A | n.2144C>G c.108C>G (p.Ser36=) | |
15 | g.55234827G>T | CA490429331 | RAB27A | n.2144C>A c.108C>A (p.Ser36=) | |
15 | g.55234828G>A | CA392530854 | RAB27A | n.2143C>T c.107C>T (p.Ser36Phe) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.55234828G>C | CA392530855 | RAB27A | n.2143C>G c.107C>G (p.Ser36Cys) | |
15 | g.55234828G= | CA2178725659 | RAB27A | n.2143C= c.107C= (p.Ser36=) | |
15 | g.55234828G>T | CA392530856 | RAB27A | n.2143C>A c.107C>A (p.Ser36Tyr) | |
15 | g.55234829A>C | CA392530857 | RAB27A | n.2142T>G c.106T>G (p.Ser36Ala) | |
15 | g.55234829A>G | CA392530858 | RAB27A | n.2142T>C c.106T>C (p.Ser36Pro) | |
15 | g.55234829A>T | CA392530859 | RAB27A | n.2142T>A c.106T>A (p.Ser36Thr) | gnomAD v4 |
15 | g.55234830G>A | CA7573704 | RAB27A | n.2141C>T c.105C>T (p.Asn35=) | dbSNP ExAC |
15 | g.55234830G>C | CA392530860 | RAB27A | n.2141C>G c.105C>G (p.Asn35Lys) | |
15 | g.55234830G= | CA2178725660 | RAB27A | n.2141C= c.105C= (p.Asn35=) | |
15 | g.55234830G>T | CA392530861 | RAB27A | n.2141C>A c.105C>A (p.Asn35Lys) | |
15 | g.55234831T>A | CA392530862 | RAB27A | n.2140A>T c.104A>T (p.Asn35Ile) | |
15 | g.55234831T>C | CA392530863 | RAB27A | n.2140A>G c.104A>G (p.Asn35Ser) | |
15 | g.55234831T>G | CA392530864 | RAB27A | n.2140A>C c.104A>C (p.Asn35Thr) | |
15 | g.55234832T>A | CA392530865 | RAB27A | n.2139A>T c.103A>T (p.Asn35Tyr) | |
15 | g.55234832T>C | CA392530867 | RAB27A | n.2139A>G c.103A>G (p.Asn35Asp) | |
15 | g.55234832T>G | CA392530866 | RAB27A | n.2139A>C c.103A>C (p.Asn35His) | |
15 | g.55234833A>C | CA392530868 | RAB27A | n.2138T>G c.102T>G (p.Phe34Leu) | |
15 | g.55234833A>G | CA490429333 | RAB27A | n.2138T>C c.102T>C (p.Phe34=) | |
15 | g.55234833A>T | CA392530869 | RAB27A | n.2138T>A c.102T>A (p.Phe34Leu) | |
15 | g.55234834A>C | CA392530870 | RAB27A | n.2137T>G c.101T>G (p.Phe34Cys) | gnomAD v4 |
15 | g.55234834A>G | CA392530871 | RAB27A | n.2137T>C c.101T>C (p.Phe34Ser) | |
15 | g.55234834A>T | CA392530872 | RAB27A | n.2137T>A c.101T>A (p.Phe34Tyr) | |
15 | g.55234835A>C | CA392530873 | RAB27A | n.2136T>G c.100T>G (p.Phe34Val) | |
15 | g.55234835A>G | CA392530874 | RAB27A | n.2136T>C c.100T>C (p.Phe34Leu) | |
15 | g.55234835A>T | CA392530875 | RAB27A | n.2136T>A c.100T>A (p.Phe34Ile) | |
15 | g.55234836T>A | CA392530876 | RAB27A | n.2135A>T c.99A>T (p.Lys33Asn) | |
15 | g.55234836T>C | CA490429334 | RAB27A | n.2135A>G c.99A>G (p.Lys33=) | |
15 | g.55234836T>G | CA392530877 | RAB27A | n.2135A>C c.99A>C (p.Lys33Asn) | |
15 | g.55234837T>A | CA392530878 | RAB27A | n.2134A>T c.98A>T (p.Lys33Ile) | |
15 | g.55234837T>C | CA392530879 | RAB27A | n.2134A>G c.98A>G (p.Lys33Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.55234837T>G | CA392530880 | RAB27A | n.2134A>C c.98A>C (p.Lys33Thr) | |
15 | g.55234837T= | CA2178725661 | RAB27A | n.2134A= c.98A= (p.Lys33=) | |
15 | g.55234838T>A | CA392530882 | RAB27A | n.2133A>T c.97A>T (p.Lys33Ter) | |
15 | g.55234838T>C | CA7573705 | RAB27A | n.2133A>G c.97A>G (p.Lys33Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.55234838T>G | CA392530881 | RAB27A | n.2133A>C c.97A>C (p.Lys33Gln) | |
15 | g.55234838T= | CA2178725662 | RAB27A | n.2133A= c.97A= (p.Lys33=) | |
15 | g.55234839A>C | CA490429335 | RAB27A | n.2132T>G c.96T>G (p.Gly32=) | gnomAD v4 |
15 | g.55234839A>G | CA490429336 | RAB27A | n.2132T>C c.96T>C (p.Gly32=) | ClinVar |
15 | g.55234839A>T | CA490429337 | RAB27A | n.2132T>A c.96T>A (p.Gly32=) | |
15 | g.55234839_55234840insG | CA2550831233 | RAB27A | n.2131_2132insC c.95_96insC (p.Lys33Ter) | |
15 | g.55234840C>A | CA392530883 | RAB27A | n.2131G>T c.95G>T (p.Gly32Val) | |
15 | g.55234840C>G | CA392530884 | RAB27A | n.2131G>C c.95G>C (p.Gly32Ala) | |
15 | g.55234840C>T | CA392530885 | RAB27A | n.2131G>A c.95G>A (p.Gly32Asp) | |
15 | g.55234841C>A | CA392530886 | RAB27A | n.2130G>T c.94G>T (p.Gly32Cys) | |
15 | g.55234841C= | CA2178725663 | RAB27A | n.2130G= c.94G= (p.Gly32=) | |
15 | g.55234841C>G | CA7573706 | RAB27A | n.2130G>C c.94G>C (p.Gly32Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.55234841C>T | CA392530887 | RAB27A | n.2130G>A c.94G>A (p.Gly32Ser) | gnomAD v4 |
15 | g.55234842_55234843insATATACAGATGGTAAATTTAACTCCAAATTTATCA | CA2628576384 | RAB27A | n.2130_2131insATAAATTTGGAGTTAAATTTACCATCTGTATATTG c.94_95insATAAATTTGGAGTTAAATTTACCATCTGTATATTG (p.Gly32AspfsTer?) | gnomAD v4 |
15 | g.55234841_55234842insCTGCTGTTTTAAGCGGCGATGAACCCTTGTCCAAATTTCAAAGCGTTGTACCAAATGTTAAGGAGCTTAGGCAGTTTAAAGTCGGGAGTAAAACGCCTATTTGCGTGGTGAAATTTGAGAAAG | CA2519990208 | RAB27A | n.2129_2130insCTTTCTCAAATTTCACCACGCAAATAGGCGTTTTACTCCCGACTTTAAACTGCCTAAGCTCCTTAACATTTGGTACAACGCTTTGAAATTTGGACAAGGGTTCATCGCCGCTTAAAACAGCAG c.93_94insCTTTCTCAAATTTCACCACGCAAATAGGCGTTTTACTCCCGACTTTAAACTGCCTAAGCTCCTTAACATTTGGTACAACGCTTTGAAATTTGGACAAGGGTTCATCGCCGCTTAAAACAGCAG | |
15 | g.55234842A= | CA2178725664 | RAB27A | n.2129T= c.93T= (p.Asp31=) | |
15 | g.55234842A>C | CA392530888 | RAB27A | n.2129T>G c.93T>G (p.Asp31Glu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.55234842A>G | CA270737306 | RAB27A | n.2129T>C c.93T>C (p.Asp31=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234842A>T | CA392530889 | RAB27A | n.2129T>A c.93T>A (p.Asp31Glu) | |
15 | g.55234843T>A | CA392530890 | RAB27A | n.2128A>T c.92A>T (p.Asp31Val) | |
15 | g.55234843T>C | CA7573707 | RAB27A | n.2128A>G c.92A>G (p.Asp31Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234843T>G | CA392530891 | RAB27A | n.2128A>C c.92A>C (p.Asp31Ala) | |
15 | g.55234843T= | CA2178725665 | RAB27A | n.2128A= c.92A= (p.Asp31=) | |
15 | g.55234844C>A | CA392530894 | RAB27A | n.2127G>T c.91G>T (p.Asp31Tyr) | |
15 | g.55234844C>G | CA392530893 | RAB27A | n.2127G>C c.91G>C (p.Asp31His) | |
15 | g.55234844C>T | CA392530892 | RAB27A | n.2127G>A c.91G>A (p.Asp31Asn) | ClinVar |
15 | g.55234845T>A | CA490429338 | RAB27A | n.2126A>T c.90A>T (p.Thr30=) | |
15 | g.55234845T>C | CA490429339 | RAB27A | n.2126A>G c.90A>G (p.Thr30=) | |
15 | g.55234845T>G | CA490429340 | RAB27A | n.2126A>C c.90A>C (p.Thr30=) | |
15 | g.55234846G>A | CA392530895 | RAB27A | n.2125C>T c.89C>T (p.Thr30Ile) | |
15 | g.55234846G>C | CA392530897 | RAB27A | n.2125C>G c.89C>G (p.Thr30Arg) | |
15 | g.55234846G>T | CA392530896 | RAB27A | n.2125C>A c.89C>A (p.Thr30Lys) | |
15 | g.55234847T>A | CA392530898 | RAB27A | n.2124A>T c.88A>T (p.Thr30Ser) | |
15 | g.55234847T>C | CA392530899 | RAB27A | n.2124A>G c.88A>G (p.Thr30Ala) | |
15 | g.55234847T>G | CA392530900 | RAB27A | n.2124A>C c.88A>C (p.Thr30Pro) | |
15 | g.55234848A= | CA2178725666 | RAB27A | n.2123T= c.87T= (p.Tyr29=) | |
15 | g.55234848A>C | CA392530901 | RAB27A | n.2123T>G c.87T>G (p.Tyr29Ter) | |
15 | g.55234848A>G | CA7573708 | RAB27A | n.2123T>C c.87T>C (p.Tyr29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234848A>T | CA392530902 | RAB27A | n.2123T>A c.87T>A (p.Tyr29Ter) | |
15 | g.55234849T>A | CA392530903 | RAB27A | n.2122A>T c.86A>T (p.Tyr29Phe) | |
15 | g.55234849T>C | CA392530904 | RAB27A | n.2122A>G c.86A>G (p.Tyr29Cys) | gnomAD v4 |
15 | g.55234849T>G | CA392530905 | RAB27A | n.2122A>C c.86A>C (p.Tyr29Ser) | |
15 | g.55234850A= | CA2178725667 | RAB27A | n.2121T= c.85T= (p.Tyr29=) | |
15 | g.55234850A>C | CA392530906 | RAB27A | n.2121T>G c.85T>G (p.Tyr29Asp) | |
15 | g.55234850A>G | CA7573709 | RAB27A | n.2121T>C c.85T>C (p.Tyr29His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234850A>T | CA392530907 | RAB27A | n.2121T>A c.85T>A (p.Tyr29Asn) | |
15 | g.55234851T>A | CA392530909 | RAB27A | n.2120A>T c.84A>T (p.Gln28His) | |
15 | g.55234851T>C | CA270737312 | RAB27A | n.2120A>G c.84A>G (p.Gln28=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.55234851T>G | CA392530908 | RAB27A | n.2120A>C c.84A>C (p.Gln28His) | |
15 | g.55234851T= | CA2178725668 | RAB27A | n.2120A= c.84A= (p.Gln28=) | |
15 | g.55234852T>A | CA392530910 | RAB27A | n.2119A>T c.83A>T (p.Gln28Leu) | |
15 | g.55234852T>C | CA392530911 | RAB27A | n.2119A>G c.83A>G (p.Gln28Arg) | |
15 | g.55234852T>G | CA392530912 | RAB27A | n.2119A>C c.83A>C (p.Gln28Pro) | |
15 | g.55234853G>A | CA392530913 | RAB27A | n.2118C>T c.82C>T (p.Gln28Ter) | |
15 | g.55234853G>C | CA392530914 | RAB27A | n.2118C>G c.82C>G (p.Gln28Glu) | |
15 | g.55234853G>T | CA392530915 | RAB27A | n.2118C>A c.82C>A (p.Gln28Lys) | |
15 | g.55234854dup | CA2628576385 | RAB27A | n.2118dup c.82dup (p.Gln28ProfsTer6) | gnomAD v4 |
15 | g.55234854G>A | CA490429341 | RAB27A | n.2117C>T c.81C>T (p.Tyr27=) | |
15 | g.55234854G>C | CA392530916 | RAB27A | n.2117C>G c.81C>G (p.Tyr27Ter) | |
15 | g.55234854G>T | CA392530917 | RAB27A | n.2117C>A c.81C>A (p.Tyr27Ter) | |
15 | g.55234857_55234861del | CA2628576386 | RAB27A | n.2113_2117del c.77_81del (p.Leu26ProfsTer6) | gnomAD v4 |
15 | g.55234855T>A | CA392530918 | RAB27A | n.2116A>T c.80A>T (p.Tyr27Phe) | |
15 | g.55234855T>C | CA392530919 | RAB27A | n.2116A>G c.80A>G (p.Tyr27Cys) | |
15 | g.55234855T>G | CA392530920 | RAB27A | n.2116A>C c.80A>C (p.Tyr27Ser) | |
15 | g.55234856A>C | CA392530923 | RAB27A | n.2115T>G c.79T>G (p.Tyr27Asp) | |
15 | g.55234856A>G | CA392530922 | RAB27A | n.2115T>C c.79T>C (p.Tyr27His) | |
15 | g.55234856A>T | CA392530921 | RAB27A | n.2115T>A c.79T>A (p.Tyr27Asn) | |
15 | g.55234857A>C | CA490429342 | RAB27A | n.2114T>G c.78T>G (p.Leu26=) | |
15 | g.55234857A>G | CA490429343 | RAB27A | n.2114T>C c.78T>C (p.Leu26=) | |
15 | g.55234857A>T | CA490429344 | RAB27A | n.2114T>A c.78T>A (p.Leu26=) | |
15 | g.55234858A>C | CA392530924 | RAB27A | n.2113T>G c.77T>G (p.Leu26Arg) | |
15 | g.55234858A>G | CA392530925 | RAB27A | n.2113T>C c.77T>C (p.Leu26Pro) | |
15 | g.55234858A>T | CA392530926 | RAB27A | n.2113T>A c.77T>A (p.Leu26His) | |
15 | g.55234859G>A | CA392530927 | RAB27A | n.2112C>T c.76C>T (p.Leu26Phe) | |
15 | g.55234859G>C | CA392530928 | RAB27A | n.2112C>G c.76C>G (p.Leu26Val) | |
15 | g.55234859G>T | CA392530929 | RAB27A | n.2112C>A c.76C>A (p.Leu26Ile) | |
15 | g.55234860T>A | CA490429346 | RAB27A | n.2111A>T c.75A>T (p.Val25=) | |
15 | g.55234860T>C | CA490429345 | RAB27A | n.2111A>G c.75A>G (p.Val25=) | |
15 | g.55234860T>G | CA490429347 | RAB27A | n.2111A>C c.75A>C (p.Val25=) | |
15 | g.55234861A>C | CA392530932 | RAB27A | n.2110T>G c.74T>G (p.Val25Gly) | |
15 | g.55234861A>G | CA392530930 | RAB27A | n.2110T>C c.74T>C (p.Val25Ala) | |
15 | g.55234861A>T | CA392530931 | RAB27A | n.2110T>A c.74T>A (p.Val25Glu) | |
15 | g.55234862C>A | CA392530933 | RAB27A | n.2109G>T c.73G>T (p.Val25Leu) | |
15 | g.55234862C= | CA2178725669 | RAB27A | n.2109G= c.73G= (p.Val25=) | |
15 | g.55234862C>G | CA392530934 | RAB27A | n.2109G>C c.73G>C (p.Val25Leu) | |
15 | g.55234862C>T | CA392530935 | RAB27A | n.2109G>A c.73G>A (p.Val25Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234863A>C | CA392530936 | RAB27A | n.2108T>G c.72T>G (p.Ser24Arg) | |
15 | g.55234863A>G | CA490429348 | RAB27A | n.2108T>C c.72T>C (p.Ser24=) | |
15 | g.55234863A>T | CA392530937 | RAB27A | n.2108T>A c.72T>A (p.Ser24Arg) | |
15 | g.55234864C>A | CA392530938 | RAB27A | n.2107G>T c.71G>T (p.Ser24Ile) | |
15 | g.55234864C= | CA2178725670 | RAB27A | n.2107G= c.71G= (p.Ser24=) | |
15 | g.55234864C>G | CA7573710 | RAB27A | n.2107G>C c.71G>C (p.Ser24Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.55234864C>T | CA392530939 | RAB27A | n.2107G>A c.71G>A (p.Ser24Asn) | |
15 | g.55234865T>A | CA392530941 | RAB27A | n.2106A>T c.70A>T (p.Ser24Cys) | gnomAD v4 |
15 | g.55234865T>C | CA392530942 | RAB27A | n.2106A>G c.70A>G (p.Ser24Gly) | |
15 | g.55234865T>G | CA392530944 | RAB27A | n.2106A>C c.70A>C (p.Ser24Arg) | |
15 | g.55234866G>A | CA490429349 | RAB27A | n.2105C>T c.69C>T (p.Thr23=) | gnomAD v4 |
15 | g.55234866G>C | CA490429350 | RAB27A | n.2105C>G c.69C>G (p.Thr23=) | |
15 | g.55234866G= | CA2178725671 | RAB27A | n.2105C= c.69C= (p.Thr23=) | |
15 | g.55234866G>T | CA490429351 | RAB27A | n.2105C>A c.69C>A (p.Thr23=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234867G>A | CA392530946 | RAB27A | n.2104C>T c.68C>T (p.Thr23Ile) | |
15 | g.55234867G>C | CA392530948 | RAB27A | n.2104C>G c.68C>G (p.Thr23Ser) | |
15 | g.55234867G>T | CA392530950 | RAB27A | n.2104C>A c.68C>A (p.Thr23Asn) | |
15 | g.55234868T>A | CA392530952 | RAB27A | n.2103A>T c.67A>T (p.Thr23Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.55234868T>C | CA392530954 | RAB27A | n.2103A>G c.67A>G (p.Thr23Ala) | |
15 | g.55234868T>G | CA392530956 | RAB27A | n.2103A>C c.67A>C (p.Thr23Pro) | |
15 | g.55234868T= | CA2178725672 | RAB27A | n.2103A= c.67A= (p.Thr23=) | |
15 | g.55234869C>A | CA392530958 | RAB27A | n.2102G>T c.66G>T (p.Lys22Asn) | |
15 | g.55234869C>G | CA392530959 | RAB27A | n.2102G>C c.66G>C (p.Lys22Asn) | |
15 | g.55234869C>T | CA490429352 | RAB27A | n.2102G>A c.66G>A (p.Lys22=) | |
15 | g.55234870T>A | CA392530963 | RAB27A | n.2101A>T c.65A>T (p.Lys22Met) | |
15 | g.55234870T>C | CA392530962 | RAB27A | n.2101A>G c.65A>G (p.Lys22Arg) | dbSNP gnomAD v4 |
15 | g.55234870T>G | CA392530960 | RAB27A | n.2101A>C c.65A>C (p.Lys22Thr) | |
15 | g.55234870T= | CA2178725673 | RAB27A | n.2101A= c.65A= (p.Lys22=) | |
15 | g.55234871T>A | CA392530965 | RAB27A | n.2100A>T c.64A>T (p.Lys22Ter) | |
15 | g.55234871T>C | CA392530969 | RAB27A | n.2100A>G c.64A>G (p.Lys22Glu) | |
15 | g.55234871T>G | CA392530968 | RAB27A | n.2100A>C c.64A>C (p.Lys22Gln) | |
15 | g.55234872C>A | CA490429353 | RAB27A | n.2099G>T c.63G>T (p.Gly21=) | |
15 | g.55234872C>G | CA490429354 | RAB27A | n.2099G>C c.63G>C (p.Gly21=) | |
15 | g.55234872C>T | CA490429355 | RAB27A | n.2099G>A c.63G>A (p.Gly21=) | |
15 | g.55234873C>A | CA392530971 | RAB27A | n.2098G>T c.62G>T (p.Gly21Val) | |
15 | g.55234873C>G | CA392530974 | RAB27A | n.2098G>C c.62G>C (p.Gly21Ala) | |
15 | g.55234873C>T | CA392530972 | RAB27A | n.2098G>A c.62G>A (p.Gly21Glu) | |
15 | g.55234874C>A | CA392530976 | RAB27A | n.2097G>T c.61G>T (p.Gly21Trp) | |
15 | g.55234874C>G | CA392530978 | RAB27A | n.2097G>C c.61G>C (p.Gly21Arg) | |
15 | g.55234874C>T | CA392530980 | RAB27A | n.2097G>A c.61G>A (p.Gly21Arg) | |
15 | g.55234875T>A | CA490429356 | RAB27A | n.2096A>T c.60A>T (p.Val20=) | |
15 | g.55234875T>C | CA490429357 | RAB27A | n.2096A>G c.60A>G (p.Val20=) | gnomAD v4 |
15 | g.55234875T>G | CA490429358 | RAB27A | n.2096A>C c.60A>C (p.Val20=) | |
15 | g.55234876A>C | CA392530981 | RAB27A | n.2095T>G c.59T>G (p.Val20Gly) | |
15 | g.55234876A>G | CA392530982 | RAB27A | n.2095T>C c.59T>C (p.Val20Ala) | |
15 | g.55234876A>T | CA392530983 | RAB27A | n.2095T>A c.59T>A (p.Val20Glu) | |
15 | g.55234877C>A | CA392530987 | RAB27A | n.2094G>T c.58G>T (p.Val20Leu) | gnomAD v4 |
15 | g.55234877C= | CA2178725674 | RAB27A | n.2094G= c.58G= (p.Val20=) | |
15 | g.55234877C>G | CA392530985 | RAB27A | n.2094G>C c.58G>C (p.Val20Leu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.55234877C>T | CA7573711 | RAB27A | n.2094G>A c.58G>A (p.Val20Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234878del | CA2628576387 | RAB27A | n.2093del c.57del (p.Val20Ter) | gnomAD v4 |
15 | g.55234878A>C | CA490429361 | RAB27A | n.2093T>G c.57T>G (p.Gly19=) | |
15 | g.55234878A>G | CA490429360 | RAB27A | n.2093T>C c.57T>C (p.Gly19=) | ClinVar |
15 | g.55234878A>T | CA490429359 | RAB27A | n.2093T>A c.57T>A (p.Gly19=) | |
15 | g.55234879C>A | CA392530989 | RAB27A | n.2092G>T c.56G>T (p.Gly19Val) | |
15 | g.55234879C= | CA2178725675 | RAB27A | n.2092G= c.56G= (p.Gly19=) | |
15 | g.55234879C>G | CA392530991 | RAB27A | n.2092G>C c.56G>C (p.Gly19Ala) | |
15 | g.55234879C>T | CA270737330 | RAB27A | n.2092G>A c.56G>A (p.Gly19Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234880C>A | CA392530993 | RAB27A | n.2091G>T c.55G>T (p.Gly19Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234880C= | CA2178725676 | RAB27A | n.2091G= c.55G= (p.Gly19=) | |
15 | g.55234880C>G | CA392530995 | RAB27A | n.2091G>C c.55G>C (p.Gly19Arg) | |
15 | g.55234880C>T | CA392530997 | RAB27A | n.2091G>A c.55G>A (p.Gly19Ser) | |
15 | g.55234880_55234882delinsCAG | CA2178725677 | RAB27A | n.2089_2091delinsCTG c.53_55delinsCTG (p.Ser18=) | |
15 | g.55234881A>C | CA490429362 | RAB27A | n.2090T>G c.54T>G (p.Ser18=) | |
15 | g.55234881A>G | CA490429363 | RAB27A | n.2090T>C c.54T>C (p.Ser18=) | |
15 | g.55234881A>T | CA490429364 | RAB27A | n.2090T>A c.54T>A (p.Ser18=) | |
15 | g.55234883_55234884del | CA490429365 | RAB27A | n.2089_2090del c.53_54del (p.Ser18TrpfsTer15) | ClinVar dbSNP gnomAD v4 |
15 | g.55234882G>A | CA392530998 | RAB27A | n.2089C>T c.53C>T (p.Ser18Phe) | dbSNP |
15 | g.55234882G>C | CA392531002 | RAB27A | n.2089C>G c.53C>G (p.Ser18Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
15 | g.55234882G= | CA2178725678 | RAB27A | n.2089C= c.53C= (p.Ser18=) | |
15 | g.55234882G>T | CA392530999 | RAB27A | n.2089C>A c.53C>A (p.Ser18Tyr) | |
15 | g.55234883A>C | CA392531004 | RAB27A | n.2088T>G c.52T>G (p.Ser18Ala) | |
15 | g.55234883A>G | CA392531006 | RAB27A | n.2088T>C c.52T>C (p.Ser18Pro) | |
15 | g.55234883A>T | CA392531008 | RAB27A | n.2088T>A c.52T>A (p.Ser18Thr) | |
15 | g.55234884G>A | CA490429366 | RAB27A | n.2087C>T c.51C>T (p.Asp17=) | |
15 | g.55234884G>C | CA392531010 | RAB27A | n.2087C>G c.51C>G (p.Asp17Glu) | |
15 | g.55234884G>T | CA392531012 | RAB27A | n.2087C>A c.51C>A (p.Asp17Glu) | |
15 | g.55234885T>A | CA392531014 | RAB27A | n.2086A>T c.50A>T (p.Asp17Val) | |
15 | g.55234885T>C | CA392531016 | RAB27A | n.2086A>G c.50A>G (p.Asp17Gly) | |
15 | g.55234885T>G | CA392531018 | RAB27A | n.2086A>C c.50A>C (p.Asp17Ala) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.55234885T= | CA2178725679 | RAB27A | n.2086A= c.50A= (p.Asp17=) | |
15 | g.55234886C>A | CA392531020 | RAB27A | n.2085G>T c.49G>T (p.Asp17Tyr) | |
15 | g.55234886C= | CA2178725680 | RAB27A | n.2085G= c.49G= (p.Asp17=) | |
15 | g.55234886C>G | CA392531022 | RAB27A | n.2085G>C c.49G>C (p.Asp17His) | |
15 | g.55234886C>T | CA7573712 | RAB27A | n.2085G>A c.49G>A (p.Asp17Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.55234887T>A | CA490429367 | RAB27A | n.2084A>T c.48A>T (p.Gly16=) | |
15 | g.55234887T>C | CA490429368 | RAB27A | n.2084A>G c.48A>G (p.Gly16=) | |
15 | g.55234887T>G | CA490429369 | RAB27A | n.2084A>C c.48A>C (p.Gly16=) | |
15 | g.55234888C>A | CA392531024 | RAB27A | n.2083G>T c.47G>T (p.Gly16Val) | |
15 | g.55234888C>G | CA392531028 | RAB27A | n.2083G>C c.47G>C (p.Gly16Ala) | |
15 | g.55234888C>T | CA392531026 | RAB27A | n.2083G>A c.47G>A (p.Gly16Glu) | gnomAD v4 |
15 | g.55234889C>A | CA392531030 | RAB27A | n.2082G>T c.46G>T (p.Gly16Ter) | |
15 | g.55234889C= | CA2178725681 | RAB27A | n.2082G= c.46G= (p.Gly16=) | |
15 | g.55234889C>G | CA392531032 | RAB27A | n.2082G>C c.46G>C (p.Gly16Arg) | |
15 | g.55234889C>T | CA392531034 | RAB27A | n.2082G>A c.46G>A (p.Gly16Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.55234890C>A | CA392531036 | RAB27A | n.2081G>T c.45G>T (p.Leu15Phe) | |
15 | g.55234890C>G | CA392531038 | RAB27A | n.2081G>C c.45G>C (p.Leu15Phe) | |
15 | g.55234890C>T | CA490429370 | RAB27A | n.2081G>A c.45G>A (p.Leu15=) | |
15 | g.55234891A>C | CA392531040 | RAB27A | n.2080T>G c.44T>G (p.Leu15Trp) | |
15 | g.55234891A>G | CA392531042 | RAB27A | n.2080T>C c.44T>C (p.Leu15Ser) | |
15 | g.55234891A>T | CA392531044 | RAB27A | n.2080T>A c.44T>A (p.Leu15Ter) | |
15 | g.55234892A>C | CA392531046 | RAB27A | n.2079T>G c.43T>G (p.Leu15Val) | |
15 | g.55234892A>G | CA490429371 | RAB27A | n.2079T>C c.43T>C (p.Leu15=) | |
15 | g.55234892A>T | CA392531048 | RAB27A | n.2079T>A c.43T>A (p.Leu15Met) | |
15 | g.55234893A>C | CA490429373 | RAB27A | n.2078T>G c.42T>G (p.Ala14=) | |
15 | g.55234893A>G | CA490429374 | RAB27A | n.2078T>C c.42T>C (p.Ala14=) | |
15 | g.55234893A>T | CA490429372 | RAB27A | n.2078T>A c.42T>A (p.Ala14=) | |
15 | g.55234894G>A | CA270737346 | RAB27A | n.2077C>T c.41C>T (p.Ala14Val) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.55234894G>C | CA392531051 | RAB27A | n.2077C>G c.41C>G (p.Ala14Gly) | |
15 | g.55234894G= | CA2178725682 | RAB27A | n.2077C= c.41C= (p.Ala14=) | |
15 | g.55234894G>T | CA392531053 | RAB27A | n.2077C>A c.41C>A (p.Ala14Asp) | |
15 | g.55234895C>A | CA392531055 | RAB27A | n.2076G>T c.40G>T (p.Ala14Ser) | |
15 | g.55234895C>G | CA392531058 | RAB27A | n.2076G>C c.40G>C (p.Ala14Pro) | |
15 | g.55234895C>T | CA392531056 | RAB27A | n.2076G>A c.40G>A (p.Ala14Thr) | |
15 | g.55234896T>A | CA392531059 | RAB27A | n.2075A>T c.39A>T (p.Leu13Phe) | |
15 | g.55234896T>C | CA490429375 | RAB27A | n.2075A>G c.39A>G (p.Leu13=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234896T>G | CA392531060 | RAB27A | n.2075A>C c.39A>C (p.Leu13Phe) | dbSNP |
15 | g.55234896T= | CA2178725683 | RAB27A | n.2075A= c.39A= (p.Leu13=) | |
15 | g.55234897A>C | CA392531063 | RAB27A | n.2074T>G c.38T>G (p.Leu13Ter) | |
15 | g.55234897A>G | CA392531065 | RAB27A | n.2074T>C c.38T>C (p.Leu13Ser) | |
15 | g.55234897A>T | CA392531066 | RAB27A | n.2074T>A c.38T>A (p.Leu13Ter) | |
15 | g.55234898A= | CA2178725684 | RAB27A | n.2073T= c.37T= (p.Leu13=) | |
15 | g.55234898A>C | CA270737353 | RAB27A | n.2073T>G c.37T>G (p.Leu13Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234898A>G | CA490429376 | RAB27A | n.2073T>C c.37T>C (p.Leu13=) | |
15 | g.55234898A>T | CA392531068 | RAB27A | n.2073T>A c.37T>A (p.Leu13Ile) | |
15 | g.55234899A>C | CA392531070 | RAB27A | n.2072T>G c.36T>G (p.Phe12Leu) | |
15 | g.55234899A>G | CA490429377 | RAB27A | n.2072T>C c.36T>C (p.Phe12=) | |
15 | g.55234899A>T | CA392531072 | RAB27A | n.2072T>A c.36T>A (p.Phe12Leu) | |
15 | g.55234900A= | CA2178725685 | RAB27A | n.2071T= c.35T= (p.Phe12=) | |
15 | g.55234900A>C | CA392531077 | RAB27A | n.2071T>G c.35T>G (p.Phe12Cys) | |
15 | g.55234900A>G | CA270737356 | RAB27A | n.2071T>C c.35T>C (p.Phe12Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234900A>T | CA392531074 | RAB27A | n.2071T>A c.35T>A (p.Phe12Tyr) | |
15 | g.55234901A= | CA2178725686 | RAB27A | n.2070T= c.34T= (p.Phe12=) | |
15 | g.55234901A>C | CA392531079 | RAB27A | n.2070T>G c.34T>G (p.Phe12Val) | dbSNP |
15 | g.55234901A>G | CA392531083 | RAB27A | n.2070T>C c.34T>C (p.Phe12Leu) | |
15 | g.55234901A>T | CA392531081 | RAB27A | n.2070T>A c.34T>A (p.Phe12Ile) | gnomAD v4 |
15 | g.55234902C>A | CA392531085 | RAB27A | n.2069G>T c.33G>T (p.Lys11Asn) | |
15 | g.55234902C= | CA2178725687 | RAB27A | n.2069G= c.33G= (p.Lys11=) | |
15 | g.55234902C>G | CA392531087 | RAB27A | n.2069G>C c.33G>C (p.Lys11Asn) | |
15 | g.55234902C>T | CA490429378 | RAB27A | n.2069G>A c.33G>A (p.Lys11=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234903T>A | CA392531089 | RAB27A | n.2068A>T c.32A>T (p.Lys11Met) | |
15 | g.55234903T>C | CA392531090 | RAB27A | n.2068A>G c.32A>G (p.Lys11Arg) | COSMIC |
15 | g.55234903T>G | CA392531092 | RAB27A | n.2068A>C c.32A>C (p.Lys11Thr) | gnomAD v4 |
15 | g.55234904T>A | CA392531094 | RAB27A | n.2067A>T c.31A>T (p.Lys11Ter) | |
15 | g.55234904T>C | CA392531096 | RAB27A | n.2067A>G c.31A>G (p.Lys11Glu) | |
15 | g.55234904T>G | CA392531097 | RAB27A | n.2067A>C c.31A>C (p.Lys11Gln) | |
15 | g.55234904T= | CA2178725688 | RAB27A | n.2067A= c.31A= (p.Lys11=) | |
15 | g.55234905G>A | CA490429379 | RAB27A | n.2066C>T c.30C>T (p.Ile10=) | |
15 | g.55234905G>C | CA392531099 | RAB27A | n.2066C>G c.30C>G (p.Ile10Met) | |
15 | g.55234905G>T | CA490429380 | RAB27A | n.2066C>A c.30C>A (p.Ile10=) | |
15 | g.55234905dup | CA618059761 | RAB27A | n.2066dup c.30dup (p.Lys11GlnfsTer23) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.55234906A>C | CA392531101 | RAB27A | n.2065T>G c.29T>G (p.Ile10Ser) | |
15 | g.55234906A>G | CA392531103 | RAB27A | n.2065T>C c.29T>C (p.Ile10Thr) | |
15 | g.55234906A>T | CA392531104 | RAB27A | n.2065T>A c.29T>A (p.Ile10Asn) | |
15 | g.55234907T>A | CA392531109 | RAB27A | n.2064A>T c.28A>T (p.Ile10Phe) | |
15 | g.55234907T>C | CA392531105 | RAB27A | n.2064A>G c.28A>G (p.Ile10Val) | |
15 | g.55234907T>G | CA392531107 | RAB27A | n.2064A>C c.28A>C (p.Ile10Leu) | |
15 | g.55234908G>A | CA490429381 | RAB27A | n.2063C>T c.27C>T (p.Leu9=) | |
15 | g.55234908G>C | CA490429382 | RAB27A | n.2063C>G c.27C>G (p.Leu9=) | |
15 | g.55234908G>T | CA490429383 | RAB27A | n.2063C>A c.27C>A (p.Leu9=) | |
15 | g.55234909A>C | CA392531111 | RAB27A | n.2062T>G c.26T>G (p.Leu9Arg) | |
15 | g.55234909A>G | CA392531113 | RAB27A | n.2062T>C c.26T>C (p.Leu9Pro) | |
15 | g.55234909A>T | CA392531115 | RAB27A | n.2062T>A c.26T>A (p.Leu9His) | |
15 | g.55234910G>A | CA392531117 | RAB27A | n.2061C>T c.25C>T (p.Leu9Phe) | |
15 | g.55234910G>C | CA392531118 | RAB27A | n.2061C>G c.25C>G (p.Leu9Val) | |
15 | g.55234910G>T | CA392531120 | RAB27A | n.2061C>A c.25C>A (p.Leu9Ile) | |
15 | g.55234911G>A | CA490429384 | RAB27A | n.2060C>T c.24C>T (p.Tyr8=) | gnomAD v4 |
15 | g.55234911G>C | CA392531122 | RAB27A | n.2060C>G c.24C>G (p.Tyr8Ter) | |
15 | g.55234911G>T | CA392531124 | RAB27A | n.2060C>A c.24C>A (p.Tyr8Ter) | |
15 | g.55234912T>A | CA392531126 | RAB27A | n.2059A>T c.23A>T (p.Tyr8Phe) | |
15 | g.55234912T>C | CA392531128 | RAB27A | n.2059A>G c.23A>G (p.Tyr8Cys) | gnomAD v4 |
15 | g.55234912T>G | CA392531130 | RAB27A | n.2059A>C c.23A>C (p.Tyr8Ser) | |
15 | g.55234913A= | CA2178725689 | RAB27A | n.2058T= c.22T= (p.Tyr8=) | |
15 | g.55234913A>C | CA392531134 | RAB27A | n.2058T>G c.22T>G (p.Tyr8Asp) | |
15 | g.55234913A>G | CA392531132 | RAB27A | n.2058T>C c.22T>C (p.Tyr8His) | dbSNP |
15 | g.55234913A>T | CA392531131 | RAB27A | n.2058T>A c.22T>A (p.Tyr8Asn) | |
15 | g.55234914A>C | CA392531136 | RAB27A | n.2057T>G c.21T>G (p.Asp7Glu) | gnomAD v4 |
15 | g.55234914A>G | CA490429385 | RAB27A | n.2057T>C c.21T>C (p.Asp7=) | |
15 | g.55234914A>T | CA392531137 | RAB27A | n.2057T>A c.21T>A (p.Asp7Glu) | |
15 | g.55234915T>A | CA392531140 | RAB27A | n.2056A>T c.20A>T (p.Asp7Val) | |
15 | g.55234915T>C | CA7573713 | RAB27A | n.2056A>G c.20A>G (p.Asp7Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.55234915T>G | CA392531143 | RAB27A | n.2056A>C c.20A>C (p.Asp7Ala) | |
15 | g.55234915T= | CA2178725690 | RAB27A | n.2056A= c.20A= (p.Asp7=) | |
15 | g.55234915_55234917delinsTCA | CA2178725691 | RAB27A | n.2054_2056delinsTGA c.18_20delinsTGA (p.Tyr6=) | |
15 | g.55234916C>A | CA392531144 | RAB27A | n.2055G>T c.19G>T (p.Asp7Tyr) | |
15 | g.55234916C= | CA2178725692 | RAB27A | n.2055G= c.19G= (p.Asp7=) | |
15 | g.55234916C>G | CA392531145 | RAB27A | n.2055G>C c.19G>C (p.Asp7His) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.55234916C>T | CA392531147 | RAB27A | n.2055G>A c.19G>A (p.Asp7Asn) | |
15 | g.55234916_55234917del | CA618059762 | RAB27A | n.2054_2055del c.18_19del (p.Tyr6Ter) | ClinVar dbSNP gnomAD v2 |
15 | g.55234917A= | CA2178725693 | RAB27A | n.2054T= c.18T= (p.Tyr6=) | |
15 | g.55234917A>C | CA392531149 | RAB27A | n.2054T>G c.18T>G (p.Tyr6Ter) | |
15 | g.55234917A>G | CA490429386 | RAB27A | n.2054T>C c.18T>C (p.Tyr6=) | dbSNP gnomAD v4 |
15 | g.55234917A>T | CA392531151 | RAB27A | n.2054T>A c.18T>A (p.Tyr6Ter) | |
15 | g.55234918T>A | CA392531153 | RAB27A | n.2053A>T c.17A>T (p.Tyr6Phe) | |
15 | g.55234918T>C | CA7573714 | RAB27A | n.2053A>G c.17A>G (p.Tyr6Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234918T>G | CA392531155 | RAB27A | n.2053A>C c.17A>C (p.Tyr6Ser) | |
15 | g.55234918T= | CA2178725694 | RAB27A | n.2053A= c.17A= (p.Tyr6=) | |
15 | g.55234919A= | CA2178725695 | RAB27A | n.2052T= c.16T= (p.Tyr6=) | |
15 | g.55234919A>C | CA392531161 | RAB27A | n.2052T>G c.16T>G (p.Tyr6Asp) | |
15 | g.55234919A>G | CA392531157 | RAB27A | n.2052T>C c.16T>C (p.Tyr6His) | |
15 | g.55234919A>T | CA392531159 | RAB27A | n.2052T>A c.16T>A (p.Tyr6Asn) | dbSNP gnomAD v4 |
15 | g.55234920A= | CA2178725696 | RAB27A | n.2051T= c.15T= (p.Asp5=) | |
15 | g.55234920A>C | CA270737389 | RAB27A | n.2051T>G c.15T>G (p.Asp5Glu) | dbSNP |
15 | g.55234920A>G | CA490429387 | RAB27A | n.2051T>C c.15T>C (p.Asp5=) | ClinVar dbSNP |
15 | g.55234920A>T | CA392531165 | RAB27A | n.2051T>A c.15T>A (p.Asp5Glu) | |
15 | g.55234921T>A | CA392531166 | RAB27A | n.2050A>T c.14A>T (p.Asp5Val) | |
15 | g.55234921T>C | CA392531169 | RAB27A | n.2050A>G c.14A>G (p.Asp5Gly) | |
15 | g.55234921T>G | CA392531171 | RAB27A | n.2050A>C c.14A>C (p.Asp5Ala) | |
15 | g.55234922C>A | CA392531172 | RAB27A | n.2049G>T c.13G>T (p.Asp5Tyr) | |
15 | g.55234922C>G | CA392531174 | RAB27A | n.2049G>C c.13G>C (p.Asp5His) | |
15 | g.55234922C>T | CA392531175 | RAB27A | n.2049G>A c.13G>A (p.Asp5Asn) |