Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.55234780A>C | CA392530744 | RAB27A | n.2189+2T>G c.153+2T>G (n.153+2T>G) | gnomAD v4 |
15 | g.55234780A>G | CA392530745 | RAB27A | n.2189+2T>C c.153+2T>C (n.153+2T>C) | |
15 | g.55234780A>T | CA392530746 | RAB27A | n.2189+2T>A c.153+2T>A (n.153+2T>A) | |
15 | g.55234781C>A | CA392530747 | RAB27A | n.2189+1G>T c.153+1G>T (n.153+1G>T) | |
15 | g.55234781C>G | CA392530749 | RAB27A | n.2189+1G>C c.153+1G>C (n.153+1G>C) | |
15 | g.55234781C>T | CA392530748 | RAB27A | n.2189+1G>A c.153+1G>A (n.153+1G>A) | |
15 | g.55234782C>A | CA490429304 | RAB27A | n.2189G>T c.153G>T (p.Val51=) | |
15 | g.55234782C= | CA2178725645 | RAB27A | n.2189G= c.153G= (p.Val51=) | |
15 | g.55234782C>G | CA490429305 | RAB27A | n.2189G>C c.153G>C (p.Val51=) | |
15 | g.55234782C>T | CA490429306 | RAB27A | n.2189G>A c.153G>A (p.Val51=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.55234783A>C | CA392530750 | RAB27A | n.2188T>G c.152T>G (p.Val51Gly) | |
15 | g.55234783A>G | CA392530751 | RAB27A | n.2188T>C c.152T>C (p.Val51Ala) | |
15 | g.55234783A>T | CA392530752 | RAB27A | n.2188T>A c.152T>A (p.Val51Glu) | |
15 | g.55234784C>A | CA392530753 | RAB27A | n.2187G>T c.151G>T (p.Val51Leu) | |
15 | g.55234784C>G | CA392530754 | RAB27A | n.2187G>C c.151G>C (p.Val51Leu) | gnomAD v4 |
15 | g.55234784C>T | CA392530755 | RAB27A | n.2187G>A c.151G>A (p.Val51Met) | gnomAD v4 |
15 | g.55234786_55234787del | CA2695220878 | RAB27A | n.2186_2187del c.150_151del (p.Arg50SerfsTer?) | |
15 | g.55234785T>A | CA392530756 | RAB27A | n.2186A>T c.150A>T (p.Arg50Ser) | gnomAD v4 |
15 | g.55234785T>C | CA490429307 | RAB27A | n.2186A>G c.150A>G (p.Arg50=) | |
15 | g.55234785T>G | CA392530757 | RAB27A | n.2186A>C c.150A>C (p.Arg50Ser) | |
15 | g.55234785_55234786delinsTC | CA2178725646 | RAB27A | n.2185_2186delinsGA c.149_150delinsGA (p.Arg50=) | |
15 | g.55234786del | CA7573699 | RAB27A | n.2185del c.149del (p.Arg50LysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234786C>A | CA392530758 | RAB27A | n.2185G>T c.149G>T (p.Arg50Ile) | COSMIC |
15 | g.55234786C>G | CA392530759 | RAB27A | n.2185G>C c.149G>C (p.Arg50Thr) | |
15 | g.55234786C>T | CA392530760 | RAB27A | n.2185G>A c.149G>A (p.Arg50Lys) | |
15 | g.55234786_55234787delinsG | CA2695220879 | RAB27A | n.2184_2185delinsC c.148_149delinsC (p.Arg50GlnfsTer?) | |
15 | g.55234787T>A | CA392530762 | RAB27A | n.2184A>T c.148A>T (p.Arg50Ter) | gnomAD v4 |
15 | g.55234787T>C | CA392530761 | RAB27A | n.2184A>G c.148A>G (p.Arg50Gly) | |
15 | g.55234787T>G | CA7573700 | RAB27A | n.2184A>C c.148A>C (p.Arg50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234787T= | CA2178725647 | RAB27A | n.2184A= c.148A= (p.Arg50=) | |
15 | g.55234792dup | CA2804242859 | RAB27A | n.2184dup c.148dup (p.Arg50LysfsTer?) | |
15 | g.55234792del | CA645571685 | RAB27A | n.2184del c.148del (p.Arg50GlufsTer?) | ClinVar gnomAD v4 COSMIC |
15 | g.55234791_55234792del | CA2580089802 | RAB27A | n.2183_2184del c.147_148del (p.Arg50SerfsTer?) | ClinVar |
15 | g.55234788T>A | CA392530763 | RAB27A | n.2183A>T c.147A>T (p.Lys49Asn) | |
15 | g.55234788T>C | CA7573701 | RAB27A | n.2183A>G c.147A>G (p.Lys49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234788T>G | CA392530764 | RAB27A | n.2183A>C c.147A>C (p.Lys49Asn) | dbSNP |
15 | g.55234788T= | CA2178725648 | RAB27A | n.2183A= c.147A= (p.Lys49=) | |
15 | g.55234789T>A | CA392530765 | RAB27A | n.2182A>T c.146A>T (p.Lys49Ile) | |
15 | g.55234789T>C | CA392530766 | RAB27A | n.2182A>G c.146A>G (p.Lys49Arg) | |
15 | g.55234789T>G | CA392530767 | RAB27A | n.2182A>C c.146A>C (p.Lys49Thr) | |
15 | g.55234790T>A | CA392530768 | RAB27A | n.2181A>T c.145A>T (p.Lys49Ter) | dbSNP gnomAD v2 |
15 | g.55234790T>C | CA392530769 | RAB27A | n.2181A>G c.145A>G (p.Lys49Glu) | gnomAD v4 |
15 | g.55234790T>G | CA392530770 | RAB27A | n.2181A>C c.145A>C (p.Lys49Gln) | |
15 | g.55234790T= | CA2178725649 | RAB27A | n.2181A= c.145A= (p.Lys49=) | |
15 | g.55234791T>A | CA392530771 | RAB27A | n.2180A>T c.144A>T (p.Glu48Asp) | |
15 | g.55234791T>C | CA490429308 | RAB27A | n.2180A>G c.144A>G (p.Glu48=) | gnomAD v4 |
15 | g.55234791T>G | CA392530772 | RAB27A | n.2180A>C c.144A>C (p.Glu48Asp) | |
15 | g.55234792T>A | CA392530774 | RAB27A | n.2179A>T c.143A>T (p.Glu48Val) | |
15 | g.55234792T>C | CA7573702 | RAB27A | n.2179A>G c.143A>G (p.Glu48Gly) | dbSNP ExAC gnomAD v2 |
15 | g.55234792T>G | CA392530773 | RAB27A | n.2179A>C c.143A>C (p.Glu48Ala) | |
15 | g.55234792T= | CA2178725650 | RAB27A | n.2179A= c.143A= (p.Glu48=) | |
15 | g.55234793C>A | CA392530775 | RAB27A | n.2178G>T c.142G>T (p.Glu48Ter) | |
15 | g.55234793C>G | CA392530777 | RAB27A | n.2178G>C c.142G>C (p.Glu48Gln) | |
15 | g.55234793C>T | CA392530776 | RAB27A | n.2178G>A c.142G>A (p.Glu48Lys) | |
15 | g.55234794C>A | CA392530778 | RAB27A | n.2177G>T c.141G>T (p.Arg47Ser) | |
15 | g.55234794C>G | CA392530779 | RAB27A | n.2177G>C c.141G>C (p.Arg47Ser) | |
15 | g.55234794C>T | CA490429309 | RAB27A | n.2177G>A c.141G>A (p.Arg47=) | |
15 | g.55234795C>A | CA392530780 | RAB27A | n.2176G>T c.140G>T (p.Arg47Met) | gnomAD v4 |
15 | g.55234795C>G | CA392530781 | RAB27A | n.2176G>C c.140G>C (p.Arg47Thr) | |
15 | g.55234795C>T | CA392530782 | RAB27A | n.2176G>A c.140G>A (p.Arg47Lys) | gnomAD v4 |
15 | g.55234796T>A | CA392530783 | RAB27A | n.2175A>T c.139A>T (p.Arg47Trp) | |
15 | g.55234796T>C | CA392530784 | RAB27A | n.2175A>G c.139A>G (p.Arg47Gly) | |
15 | g.55234796T>G | CA490429310 | RAB27A | n.2175A>C c.139A>C (p.Arg47=) | |
15 | g.55234797del | CA2695220880 | RAB27A | n.2174del c.138del (p.Phe46LeufsTer?) | |
15 | g.55234797G>A | CA490429311 | RAB27A | n.2174C>T c.138C>T (p.Phe46=) | |
15 | g.55234797G>C | CA392530785 | RAB27A | n.2174C>G c.138C>G (p.Phe46Leu) | |
15 | g.55234797G>T | CA392530786 | RAB27A | n.2174C>A c.138C>A (p.Phe46Leu) | |
15 | g.55234798A= | CA2178725651 | RAB27A | n.2173T= c.137T= (p.Phe46=) | |
15 | g.55234798A>C | CA392530787 | RAB27A | n.2173T>G c.137T>G (p.Phe46Cys) | ClinVar dbSNP |
15 | g.55234798A>G | CA392530788 | RAB27A | n.2173T>C c.137T>C (p.Phe46Ser) | dbSNP |
15 | g.55234798A>T | CA392530789 | RAB27A | n.2173T>A c.137T>A (p.Phe46Tyr) | |
15 | g.55234799A>C | CA392530790 | RAB27A | n.2172T>G c.136T>G (p.Phe46Val) | |
15 | g.55234799A>G | CA392530792 | RAB27A | n.2172T>C c.136T>C (p.Phe46Leu) | |
15 | g.55234799A>T | CA392530791 | RAB27A | n.2172T>A c.136T>A (p.Phe46Ile) | ClinVar dbSNP |
15 | g.55234800A>C | CA392530793 | RAB27A | n.2171T>G c.135T>G (p.Asp45Glu) | |
15 | g.55234800A>G | CA490429312 | RAB27A | n.2171T>C c.135T>C (p.Asp45=) | |
15 | g.55234800A>T | CA392530794 | RAB27A | n.2171T>A c.135T>A (p.Asp45Glu) | |
15 | g.55234801T>A | CA392530795 | RAB27A | n.2170A>T c.134A>T (p.Asp45Val) | |
15 | g.55234801T>C | CA392530796 | RAB27A | n.2170A>G c.134A>G (p.Asp45Gly) | dbSNP |
15 | g.55234801T>G | CA392530797 | RAB27A | n.2170A>C c.134A>C (p.Asp45Ala) | |
15 | g.55234801T= | CA2178725652 | RAB27A | n.2170A= c.134A= (p.Asp45=) | |
15 | g.55234802C>A | CA392530798 | RAB27A | n.2169G>T c.133G>T (p.Asp45Tyr) | gnomAD v4 |
15 | g.55234802C>G | CA392530799 | RAB27A | n.2169G>C c.133G>C (p.Asp45His) | |
15 | g.55234802C>T | CA392530800 | RAB27A | n.2169G>A c.133G>A (p.Asp45Asn) | |
15 | g.55234803A>C | CA392530801 | RAB27A | n.2168T>G c.132T>G (p.Ile44Met) | |
15 | g.55234803A>G | CA490429313 | RAB27A | n.2168T>C c.132T>C (p.Ile44=) | |
15 | g.55234803A>T | CA490429314 | RAB27A | n.2168T>A c.132T>A (p.Ile44=) | |
15 | g.55234804A>C | CA392530803 | RAB27A | n.2167T>G c.131T>G (p.Ile44Ser) | |
15 | g.55234804A>G | CA392530804 | RAB27A | n.2167T>C c.131T>C (p.Ile44Thr) | gnomAD v4 |
15 | g.55234804A>T | CA392530802 | RAB27A | n.2167T>A c.131T>A (p.Ile44Asn) | |
15 | g.55234805T>A | CA392530805 | RAB27A | n.2166A>T c.130A>T (p.Ile44Phe) | |
15 | g.55234805T>C | CA7573703 | RAB27A | n.2166A>G c.130A>G (p.Ile44Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.55234805T>G | CA392530806 | RAB27A | n.2166A>C c.130A>C (p.Ile44Leu) | gnomAD v4 |
15 | g.55234805T= | CA2178725653 | RAB27A | n.2166A= c.130A= (p.Ile44=) | |
15 | g.55234806G>A | CA490429315 | RAB27A | n.2165C>T c.129C>T (p.Gly43=) | gnomAD v4 |
15 | g.55234806G>C | CA490429316 | RAB27A | n.2165C>G c.129C>G (p.Gly43=) | |
15 | g.55234806G>T | CA490429317 | RAB27A | n.2165C>A c.129C>A (p.Gly43=) | |
15 | g.55234807C>A | CA392530807 | RAB27A | n.2164G>T c.128G>T (p.Gly43Val) | |
15 | g.55234807C= | CA2178725654 | RAB27A | n.2164G= c.128G= (p.Gly43=) | |
15 | g.55234807C>G | CA392530808 | RAB27A | n.2164G>C c.128G>C (p.Gly43Ala) | |
15 | g.55234807C>T | CA392530809 | RAB27A | n.2164G>A c.128G>A (p.Gly43Asp) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.55234808C>A | CA392530810 | RAB27A | n.2163G>T c.127G>T (p.Gly43Cys) | |
15 | g.55234808C>G | CA392530811 | RAB27A | n.2163G>C c.127G>C (p.Gly43Arg) | gnomAD v4 |
15 | g.55234808C>T | CA392530812 | RAB27A | n.2163G>A c.127G>A (p.Gly43Ser) | |
15 | g.55234809C>A | CA490429318 | RAB27A | n.2162G>T c.126G>T (p.Val42=) | |
15 | g.55234809C= | CA2178725655 | RAB27A | n.2162G= c.126G= (p.Val42=) | |
15 | g.55234809C>G | CA490429319 | RAB27A | n.2162G>C c.126G>C (p.Val42=) | gnomAD v4 |
15 | g.55234809C>T | CA490429320 | RAB27A | n.2162G>A c.126G>A (p.Val42=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.55234810A>C | CA392530813 | RAB27A | n.2161T>G c.125T>G (p.Val42Gly) | |
15 | g.55234810A>G | CA392530814 | RAB27A | n.2161T>C c.125T>C (p.Val42Ala) | |
15 | g.55234810A>T | CA392530815 | RAB27A | n.2161T>A c.125T>A (p.Val42Glu) | gnomAD v4 |
15 | g.55234811C>A | CA392530817 | RAB27A | n.2160G>T c.124G>T (p.Val42Leu) | |
15 | g.55234811C>G | CA392530818 | RAB27A | n.2160G>C c.124G>C (p.Val42Leu) | gnomAD v4 |
15 | g.55234811C>T | CA392530816 | RAB27A | n.2160G>A c.124G>A (p.Val42Met) | |
15 | g.55234812T>A | CA490429321 | RAB27A | n.2159A>T c.123A>T (p.Thr41=) | COSMIC |
15 | g.55234812T>C | CA490429322 | RAB27A | n.2159A>G c.123A>G (p.Thr41=) | |
15 | g.55234812T>G | CA490429323 | RAB27A | n.2159A>C c.123A>C (p.Thr41=) | gnomAD v4 |
15 | g.55234813G>A | CA392530819 | RAB27A | n.2158C>T c.122C>T (p.Thr41Ile) | |
15 | g.55234813G>C | CA392530820 | RAB27A | n.2158C>G c.122C>G (p.Thr41Arg) | gnomAD v4 |
15 | g.55234813G>T | CA392530821 | RAB27A | n.2158C>A c.122C>A (p.Thr41Lys) | |
15 | g.55234814T>A | CA392530822 | RAB27A | n.2157A>T c.121A>T (p.Thr41Ser) | |
15 | g.55234814T>C | CA392530823 | RAB27A | n.2157A>G c.121A>G (p.Thr41Ala) | ClinVar dbSNP gnomAD v4 |
15 | g.55234814T>G | CA392530824 | RAB27A | n.2157A>C c.121A>C (p.Thr41Pro) | ClinVar dbSNP |
15 | g.55234814T= | CA2178725656 | RAB27A | n.2157A= c.121A= (p.Thr41=) | |
15 | g.55234815T>A | CA490429324 | RAB27A | n.2156A>T c.120A>T (p.Thr40=) | |
15 | g.55234815T>C | CA490429325 | RAB27A | n.2156A>G c.120A>G (p.Thr40=) | |
15 | g.55234815T>G | CA490429326 | RAB27A | n.2156A>C c.120A>C (p.Thr40=) | |
15 | g.55234816G>A | CA392530825 | RAB27A | n.2155C>T c.119C>T (p.Thr40Ile) | |
15 | g.55234816G>C | CA392530827 | RAB27A | n.2155C>G c.119C>G (p.Thr40Arg) | gnomAD v4 |
15 | g.55234816G>T | CA392530826 | RAB27A | n.2155C>A c.119C>A (p.Thr40Lys) | gnomAD v4 |
15 | g.55234817T>A | CA392530828 | RAB27A | n.2154A>T c.118A>T (p.Thr40Ser) | |
15 | g.55234817T>C | CA392530829 | RAB27A | n.2154A>G c.118A>G (p.Thr40Ala) | |
15 | g.55234817T>G | CA392530830 | RAB27A | n.2154A>C c.118A>C (p.Thr40Pro) | |
15 | g.55234818G>A | CA270737286 | RAB27A | n.2153C>T c.117C>T (p.Ile39=) | dbSNP gnomAD v4 |
15 | g.55234818G>C | CA392530831 | RAB27A | n.2153C>G c.117C>G (p.Ile39Met) | |
15 | g.55234818G= | CA2178725657 | RAB27A | n.2153C= c.117C= (p.Ile39=) | |
15 | g.55234818G>T | CA490429327 | RAB27A | n.2153C>A c.117C>A (p.Ile39=) | |
15 | g.55234819A>C | CA392530833 | RAB27A | n.2152T>G c.116T>G (p.Ile39Ser) | |
15 | g.55234819A>G | CA392530834 | RAB27A | n.2152T>C c.116T>C (p.Ile39Thr) | |
15 | g.55234819A>T | CA392530832 | RAB27A | n.2152T>A c.116T>A (p.Ile39Asn) | |
15 | g.55234820T>A | CA392530837 | RAB27A | n.2151A>T c.115A>T (p.Ile39Phe) | |
15 | g.55234820T>C | CA392530835 | RAB27A | n.2151A>G c.115A>G (p.Ile39Val) | |
15 | g.55234820T>G | CA392530836 | RAB27A | n.2151A>C c.115A>C (p.Ile39Leu) | |
15 | g.55234821A>C | CA392530838 | RAB27A | n.2150T>G c.114T>G (p.Phe38Leu) | |
15 | g.55234821A>G | CA490429328 | RAB27A | n.2150T>C c.114T>C (p.Phe38=) | |
15 | g.55234821A>T | CA392530839 | RAB27A | n.2150T>A c.114T>A (p.Phe38Leu) | |
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=) |