Full data view for gene SUCLA2

Information The variants shown are described using the NM_003850.2 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-10C>T r.(=) p.(=) g.48575415G>A Copied from the Exome Variant Server SUCLA2_000085 1/12962 1/8578 0/4384 - - - - - - -
?/? c.-3_-2del r.(=) p.(=) g.48575407_48575408del Copied from the Exome Variant Server SUCLA2_000083 15/12480 0/8234 15/4246 - - - - - - -
?/? c.9C>T r.(=) p.(=) g.48575397G>A Copied from the Exome Variant Server SUCLA2_000081 4/12976 1/8590 3/4386 - - - - - - -
?/? c.21C>T r.(=) p.(=) g.48575385G>A Copied from the Exome Variant Server SUCLA2_000079 2/12972 2/8582 0/4390 - - - - - - -
?/? c.49C>G r.(?) p.(Arg17Gly) g.48575357G>C Copied from the Exome Variant Server SUCLA2_000077 4/12974 3/8582 1/4392 - - - - - - -
?/? c.80C>T r.(?) p.(Ala27Val) g.48575326G>A Copied from the Exome Variant Server SUCLA2_000075 1/12984 1/8592 0/4392 - - - - - - -
?/? c.90G>C r.(?) p.(Gln30His) g.48575316C>G Copied from the Exome Variant Server SUCLA2_000073 1/12984 1/8588 0/4396 - - - - - - -
?/? c.90+19C>T r.(=) p.(=) g.48575297G>A Copied from the Exome Variant Server SUCLA2_000071 1/12978 1/8590 0/4388 - - - - - - -
?/? c.90+24G>A r.(=) p.(=) g.48575292C>T Copied from the Exome Variant Server SUCLA2_000069 9556/12972 7054/8590 2502/4382 - - - - - - -
?/? c.90+40G>A r.(=) p.(=) g.48575276C>T Copied from the Exome Variant Server SUCLA2_000067 1/12942 1/8572 0/4370 - - - - - - -
?/? c.91-13C>G r.(=) p.(=) g.48571171G>C Copied from the Exome Variant Server SUCLA2_000065 1/12986 1/8582 0/4404 - - - - - - -
?/? c.102T>A r.(?) p.(Ser34Arg) g.48571147A>T Copied from the Exome Variant Server SUCLA2_000062 1/13004 1/8598 0/4406 - - - - - - -
?/? c.110T>G r.(?) p.(Leu37Trp) g.48571139A>C Copied from the Exome Variant Server SUCLA2_000087 339/13004 4/8598 335/4406 - - - - - - -
?/? c.114T>C r.(=) p.(=) g.48571135A>G Copied from the Exome Variant Server SUCLA2_000086 1/13004 1/8598 0/4406 - - - - - - -
?/? c.132A>C r.(?) p.(Gln44His) g.48571117T>G Copied from the Exome Variant Server SUCLA2_000084 1/13002 1/8596 0/4406 - - - - - - -
?/? c.236C>T r.(?) p.(Ser79Leu) g.48571013G>A Copied from the Exome Variant Server SUCLA2_000082 3/13006 2/8600 1/4406 - - - - - - -
?/? c.255A>G r.(=) p.(=) g.48570994T>C Copied from the Exome Variant Server SUCLA2_000080 5/13006 0/8600 5/4406 - - - - - - -
?/? c.256A>G r.(?) p.(Ile86Val) g.48570993T>C Copied from the Exome Variant Server SUCLA2_000078 68/13006 1/8600 67/4406 - - - - - - -
?/? c.268T>A r.(?) p.(Leu90Ile) g.48570981A>T Copied from the Exome Variant Server SUCLA2_000076 3/13006 3/8600 0/4406 - - - - - - -
?/? c.271+6A>G r.(=) p.(=) g.48570972T>C Copied from the Exome Variant Server SUCLA2_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.271+21T>G r.(=) p.(=) g.48570957A>C Copied from the Exome Variant Server SUCLA2_000072 228/13006 6/8600 222/4406 - - - - - - -
?/? c.271+35A>G r.(=) p.(=) g.48570943T>C Copied from the Exome Variant Server SUCLA2_000070 7/13006 2/8600 5/4406 - - - - - - -
?/? c.272-13G>C r.(=) p.(=) g.48563129C>G Copied from the Exome Variant Server SUCLA2_000068 2/13006 1/8600 1/4406 - - - - - - -
?/? c.371+9C>T r.(=) p.(=) g.48563008G>A Copied from the Exome Variant Server SUCLA2_000066 9650/13006 7035/8600 2615/4406 - - - - - - -
?/? c.371+50A>G r.(=) p.(=) g.48562967T>C Copied from the Exome Variant Server SUCLA2_000063 1/12988 1/8586 0/4402 - - - - - - -
?/? c.372-7del r.(=) p.(=) g.48562845del Copied from the Exome Variant Server SUCLA2_000060 1/12512 1/8250 0/4262 - - - - - - -
?/? c.372-6T>C r.(=) p.(=) g.48562844A>G Copied from the Exome Variant Server SUCLA2_000058 6/13000 0/8596 6/4404 - - - - - - -
?/? c.449G>C r.(?) p.(Arg150Thr) g.48562761C>G Copied from the Exome Variant Server SUCLA2_000056 1/13000 1/8596 0/4404 - - - - - - -
?/? c.459T>C r.(=) p.(=) g.48562751A>G Copied from the Exome Variant Server SUCLA2_000054 1/13000 1/8596 0/4404 - - - - - - -
?/? c.463del r.(?) p.(Val155Tyrfs*17) g.48562747del Copied from the Exome Variant Server SUCLA2_000052 1/12510 1/8250 0/4260 - - - - - - -
?/? c.467T>G r.(?) p.(Leu156Trp) g.48562743A>C Copied from the Exome Variant Server SUCLA2_000050 1/12998 1/8596 0/4402 - - - - - - -
?/? c.479G>T r.(?) p.(Arg160Leu) g.48562731C>A Copied from the Exome Variant Server SUCLA2_000048 1/12998 1/8596 0/4402 - - - - - - -
?/? c.509C>T r.(?) p.(Ala170Val) g.48562701G>A Copied from the Exome Variant Server SUCLA2_000046 1/13000 0/8596 1/4404 - - - - - - -
?/? c.510A>G r.(=) p.(=) g.48562700T>C Copied from the Exome Variant Server SUCLA2_000044 199/13000 2/8596 197/4404 - - - - - - -
?/? c.534+24A>G r.(=) p.(=) g.48562652T>C Copied from the Exome Variant Server SUCLA2_000043 1/13002 1/8598 0/4404 - - - - - - -
?/? c.534+27C>T r.(=) p.(=) g.48562649G>A Copied from the Exome Variant Server SUCLA2_000041 60/13002 0/8598 60/4404 - - - - - - -
?/? c.535-13C>T r.(=) p.(=) g.48547540G>A Copied from the Exome Variant Server SUCLA2_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.581A>G r.(?) p.(Asp194Gly) g.48547481T>C Copied from the Exome Variant Server SUCLA2_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.595T>A r.(?) p.(Ser199Thr) g.48547467A>T Copied from the Exome Variant Server SUCLA2_000061 9651/13006 7035/8600 2616/4406 - - - - - - -
?/? c.617A>G r.(?) p.(Glu206Gly) g.48547445T>C Copied from the Exome Variant Server SUCLA2_000059 13/13006 13/8600 0/4406 - - - - - - -
?/? c.649G>A r.(?) p.(Glu217Lys) g.48547413C>T Copied from the Exome Variant Server SUCLA2_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.660C>T r.(=) p.(=) g.48547402G>A Copied from the Exome Variant Server SUCLA2_000055 10/13006 0/8600 10/4406 - - - - - - -
?/? c.663+8G>T r.(=) p.(=) g.48547391C>A Copied from the Exome Variant Server SUCLA2_000053 2/13006 1/8600 1/4406 - - - - - - -
?/? c.663+12_663+13del r.(=) p.(=) g.48547386_48547387del Copied from the Exome Variant Server SUCLA2_000051 1/12518 1/8254 0/4264 - - - - - - -
?/? c.664-22T>G r.(=) p.(=) g.48542890A>C Copied from the Exome Variant Server SUCLA2_000049 1/12986 0/8584 1/4402 - - - - - - -
?/? c.664C>T r.(?) p.(Leu222Phe) g.48542868G>A Copied from the Exome Variant Server SUCLA2_000047 1/13004 1/8600 0/4404 - - - - - - -
?/? c.685C>G r.(?) p.(Pro229Ala) g.48542847G>C Copied from the Exome Variant Server SUCLA2_000045 1/13004 0/8600 1/4404 - - - - - - -
?/? c.689C>T r.(?) p.(Pro230Leu) g.48542843G>A Copied from the Exome Variant Server SUCLA2_000042 1/13004 1/8600 0/4404 - - - - - - -
?/? c.692A>G r.(?) p.(Asn231Ser) g.48542840T>C Copied from the Exome Variant Server SUCLA2_000040 1/13004 0/8600 1/4404 - - - - - - -
?/? c.700G>C r.(?) p.(Glu234Gln) g.48542832C>G Copied from the Exome Variant Server SUCLA2_000038 1/13004 1/8600 0/4404 - - - - - - -
?/? c.718A>G r.(?) p.(Met240Val) g.48542814T>C Copied from the Exome Variant Server SUCLA2_000037 2/13004 0/8600 2/4404 - - - - - - -
?/? c.789T>C r.(=) p.(=) g.48542743A>G Copied from the Exome Variant Server SUCLA2_000036 60/13006 0/8600 60/4406 - - - - - - -
?/? c.802+23A>C r.(=) p.(=) g.48542707T>G Copied from the Exome Variant Server SUCLA2_000035 1/13004 1/8600 0/4404 - - - - - - -
?/? c.802+24C>T r.(=) p.(=) g.48542706G>A Copied from the Exome Variant Server SUCLA2_000034 3/13004 2/8600 1/4404 - - - - - - -
?/? c.803-50A>G r.(=) p.(=) g.48528742T>C Copied from the Exome Variant Server SUCLA2_000033 1/12788 0/8506 1/4282 - - - - - - -
?/? c.803-43C>T r.(=) p.(=) g.48528735G>A Copied from the Exome Variant Server SUCLA2_000032 1/12848 0/8540 1/4308 - - - - - - -
?/? c.811A>G r.(?) p.(Met271Val) g.48528684T>C Copied from the Exome Variant Server SUCLA2_000031 2/13004 1/8598 1/4406 - - - - - - -
?/? c.816T>G r.(?) p.(Asp272Glu) g.48528679A>C Copied from the Exome Variant Server SUCLA2_000030 1/13004 1/8598 0/4406 - - - - - - -
?/? c.850C>T r.(?) p.(Arg284Cys) g.48528645G>A Copied from the Exome Variant Server SUCLA2_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.852C>T r.(=) p.(=) g.48528643G>A Copied from the Exome Variant Server SUCLA2_000028 1/13004 0/8598 1/4406 - - - - - - -
?/? c.942C>T r.(=) p.(=) g.48528553G>A Copied from the Exome Variant Server SUCLA2_000027 2/13006 0/8600 2/4406 - - - - - - -
?/? c.965-20A>C r.(=) p.(=) g.48528437T>G Copied from the Exome Variant Server SUCLA2_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1076A>C r.(?) p.(Glu359Ala) g.48528306T>G Copied from the Exome Variant Server SUCLA2_000025 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1099G>A r.(?) p.(Asp367Asn) g.48528283C>T Copied from the Exome Variant Server SUCLA2_000024 11/13006 4/8600 7/4406 - - - - - - -
?/? c.1108-21A>G r.(=) p.(=) g.48523759T>C Copied from the Exome Variant Server SUCLA2_000023 1/12994 0/8592 1/4402 - - - - - - -
?/? c.1108-9T>C r.(=) p.(=) g.48523747A>G Copied from the Exome Variant Server SUCLA2_000022 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1108-4A>G r.spl? p.? g.48523742T>C Copied from the Exome Variant Server SUCLA2_000021 3/13002 0/8596 3/4406 - - - - - - -
?/? c.1220G>T r.(?) p.(Arg407Leu) g.48523626C>A Copied from the Exome Variant Server SUCLA2_000020 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1228+51A>G r.(=) p.(=) g.48523567T>C Copied from the Exome Variant Server SUCLA2_000019 2569/13006 1527/8600 1042/4406 - - - - - - -
?/? c.1229-52del r.(=) p.(=) g.48523215del Copied from the Exome Variant Server SUCLA2_000018 3/12518 2/8254 1/4264 - - - - - - -
?/? c.1229-49C>G r.(=) p.(=) g.48523212G>C Copied from the Exome Variant Server SUCLA2_000017 117/13006 8/8600 109/4406 - - - - - - -
?/? c.1229-49del r.(=) p.(=) g.48523212del Copied from the Exome Variant Server SUCLA2_000016 8/12518 1/8254 7/4264 - - - - - - -
?/? c.1229-22T>C r.(=) p.(=) g.48523185A>G Copied from the Exome Variant Server SUCLA2_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1246G>A r.(?) p.(Ala416Thr) g.48523146C>T Copied from the Exome Variant Server SUCLA2_000014 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1248T>C r.(=) p.(=) g.48523144A>G Copied from the Exome Variant Server SUCLA2_000013 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1270G>A r.(?) p.(Gly424Arg) g.48523122C>T Copied from the Exome Variant Server SUCLA2_000012 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1317+13T>C r.(=) p.(=) g.48523062A>G Copied from the Exome Variant Server SUCLA2_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1317+27G>C r.(=) p.(=) g.48523048C>G Copied from the Exome Variant Server SUCLA2_000010 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1317+46C>G r.(=) p.(=) g.48523029G>C Copied from the Exome Variant Server SUCLA2_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1318-33T>G r.(=) p.(=) g.48517613A>C Copied from the Exome Variant Server SUCLA2_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1318-19C>T r.(=) p.(=) g.48517599G>A Copied from the Exome Variant Server SUCLA2_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1320T>C r.(=) p.(=) g.48517578A>G Copied from the Exome Variant Server SUCLA2_000006 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1350G>A r.(=) p.(=) g.48517548C>T Copied from the Exome Variant Server SUCLA2_000005 7/13006 7/8600 0/4406 - - - - - - -
?/? c.1365G>A r.(=) p.(=) g.48517533C>T Copied from the Exome Variant Server SUCLA2_000004 2/13006 0/8600 2/4406 - - - - - - -
?/? c.*13G>A r.(=) p.(=) g.48517493C>T Copied from the Exome Variant Server SUCLA2_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*39C>T r.(=) p.(=) g.48517467G>A Copied from the Exome Variant Server SUCLA2_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*46C>T r.(=) p.(=) g.48517460G>A Copied from the Exome Variant Server SUCLA2_000001 1/13006 1/8600 0/4406 - - - - - - -
Legend