All transcript variants in gene TMBIM6

Information The variants shown are described using the NM_003217.2 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-31+483C>T r.(=) p.(=) g.50135877C>T Copied from the Exome Variant Server TMBIM6_000001 1/11982 1/8200 0/3782
?/? c.-31+493C>T r.(=) p.(=) g.50135887C>T Copied from the Exome Variant Server TMBIM6_000002 6/11978 6/8202 0/3776
?/? c.-31+510G>C r.(=) p.(=) g.50135904G>C Copied from the Exome Variant Server TMBIM6_000003 4/12062 4/8232 0/3830
?/? c.-31+600C>T r.(=) p.(=) g.50135994C>T Copied from the Exome Variant Server TMBIM6_000004 12/12050 10/8222 2/3828
?/? c.-31+601_-31+602del r.(=) p.(=) g.50135995_50135996del Copied from the Exome Variant Server TMBIM6_000005 2/11548 1/7872 1/3676
?/? c.-31+636C>T r.(=) p.(=) g.50136030C>T Copied from the Exome Variant Server TMBIM6_000006 1/11998 1/8198 0/3800
?/? c.-31+674G>A r.(=) p.(=) g.50136068G>A Copied from the Exome Variant Server TMBIM6_000007 1/12072 1/8228 0/3844
?/? c.-31+679C>G r.(=) p.(=) g.50136073C>G Copied from the Exome Variant Server TMBIM6_000008 1/12092 1/8240 0/3852
?/? c.-31+682T>G r.(=) p.(=) g.50136076T>G Copied from the Exome Variant Server TMBIM6_000009 7/12082 1/8234 6/3848
?/? c.-31+706G>A r.(=) p.(=) g.50136100G>A Copied from the Exome Variant Server TMBIM6_000010 1/12104 1/8250 0/3854
?/? c.-31+713_-31+716del r.(=) p.(=) g.50136107_50136110del Copied from the Exome Variant Server TMBIM6_000011 4/11612 1/7900 3/3712
?/? c.-30-28A>G r.(=) p.(=) g.50146219A>G Copied from the Exome Variant Server TMBIM6_000012 1/7272 0/4618 1/2654
?/? c.-30-24_-30-23del r.(=) p.(=) g.50146223_50146224del Copied from the Exome Variant Server TMBIM6_000013 12/12518 8/8254 4/4264
?/? c.-30-17_-30-14del r.(=) p.(=) g.50146230_50146233del Copied from the Exome Variant Server TMBIM6_000014 19/12518 12/8254 7/4264
?/? c.-14C>T r.(=) p.(=) g.50146263C>T Copied from the Exome Variant Server TMBIM6_000015 1/13006 0/8600 1/4406
?/? c.35C>G r.(?) p.(Ala12Gly) g.50146311C>G Copied from the Exome Variant Server TMBIM6_000016 8/13006 8/8600 0/4406
?/? c.36G>A r.(=) p.(=) g.50146312G>A Copied from the Exome Variant Server TMBIM6_000017 11/13006 0/8600 11/4406
?/? c.56+23_56+24insT r.(=) p.(=) g.50146355_50146356insT Copied from the Exome Variant Server TMBIM6_000018 1/12518 1/8254 0/4264
?/? c.56+44C>T r.(=) p.(=) g.50146376C>T Copied from the Exome Variant Server TMBIM6_000019 7/13006 0/8600 7/4406
?/? c.57-23T>G r.(=) p.(=) g.50146733T>G Copied from the Exome Variant Server TMBIM6_000020 1/13006 1/8600 0/4406
?/? c.57-18T>C r.(=) p.(=) g.50146738T>C Copied from the Exome Variant Server TMBIM6_000021 109/13006 104/8600 5/4406
?/? c.59C>A r.(?) p.(Thr20Asn) g.50146758C>A Copied from the Exome Variant Server TMBIM6_000022 1/13006 1/8600 0/4406
?/? c.66A>G r.(=) p.(=) g.50146765A>G Copied from the Exome Variant Server TMBIM6_000023 355/13006 2/8600 353/4406
?/? c.112A>G r.(?) p.(Met38Val) g.50146811A>G Copied from the Exome Variant Server TMBIM6_000024 6/13006 6/8600 0/4406
?/? c.143A>G r.(?) p.(His48Arg) g.50146842A>G Copied from the Exome Variant Server TMBIM6_000025 1/13006 1/8600 0/4406
?/? c.166-32G>A r.(=) p.(=) g.50149386G>A Copied from the Exome Variant Server TMBIM6_000026 27/13006 0/8600 27/4406
?/? c.166-7C>T r.(=) p.(=) g.50149411C>T Copied from the Exome Variant Server TMBIM6_000027 38/13006 0/8600 38/4406
?/? c.166-7_166-6insT r.(=) p.(=) g.50149411_50149412insT Copied from the Exome Variant Server TMBIM6_000028 1/12518 1/8254 0/4264
?/? c.286+5G>A r.spl? p.? g.50149543G>A Copied from the Exome Variant Server TMBIM6_000029 1/13006 0/8600 1/4406
?/? c.286+6T>C r.(=) p.(=) g.50149544T>C Copied from the Exome Variant Server TMBIM6_000030 1812/13006 703/8600 1109/4406
?/? c.286+10G>A r.(=) p.(=) g.50149548G>A Copied from the Exome Variant Server TMBIM6_000031 1/13006 1/8600 0/4406
?/? c.286+21A>G r.(=) p.(=) g.50149559A>G Copied from the Exome Variant Server TMBIM6_000032 16/13006 14/8600 2/4406
?/? c.286+47A>T r.(=) p.(=) g.50149585A>T Copied from the Exome Variant Server TMBIM6_000033 2/13006 0/8600 2/4406
?/? c.287-43A>G r.(=) p.(=) g.50151967A>G Copied from the Exome Variant Server TMBIM6_000034 1/13006 0/8600 1/4406
?/? c.287-34C>T r.(=) p.(=) g.50151976C>T Copied from the Exome Variant Server TMBIM6_000035 4/13006 0/8600 4/4406
?/? c.287-33G>A r.(=) p.(=) g.50151977G>A Copied from the Exome Variant Server TMBIM6_000036 2946/13006 2657/8600 289/4406
?/? c.287-27_287-26insTGTG r.(=) p.(=) g.50151983_50151984insTGTG Copied from the Exome Variant Server TMBIM6_000037 4/12518 0/8254 4/4264
?/? c.310G>A r.(?) p.(Glu104Lys) g.50152033G>A Copied from the Exome Variant Server TMBIM6_000038 1/13006 0/8600 1/4406
?/? c.335+11T>C r.(=) p.(=) g.50152069T>C Copied from the Exome Variant Server TMBIM6_000039 11/13006 0/8600 11/4406
?/? c.335+13G>A r.(=) p.(=) g.50152071G>A Copied from the Exome Variant Server TMBIM6_000040 67/13006 64/8600 3/4406
?/? c.335+23A>G r.(=) p.(=) g.50152081A>G Copied from the Exome Variant Server TMBIM6_000041 110/13006 1/8600 109/4406
?/? c.335+27G>A r.(=) p.(=) g.50152085G>A Copied from the Exome Variant Server TMBIM6_000042 361/13006 4/8600 357/4406
?/? c.335+38T>C r.(=) p.(=) g.50152096T>C Copied from the Exome Variant Server TMBIM6_000043 6/13006 6/8600 0/4406
?/? c.336-45C>T r.(=) p.(=) g.50152121C>T Copied from the Exome Variant Server TMBIM6_000044 2/13006 0/8600 2/4406
?/? c.336-44C>G r.(=) p.(=) g.50152122C>G Copied from the Exome Variant Server TMBIM6_000045 403/13006 4/8600 399/4406
?/? c.362C>T r.(?) p.(Thr121Met) g.50152192C>T Copied from the Exome Variant Server TMBIM6_000046 6/13006 5/8600 1/4406
?/? c.363G>A r.(=) p.(=) g.50152193G>A Copied from the Exome Variant Server TMBIM6_000047 2925/13006 832/8600 2093/4406
?/? c.401A>G r.(?) p.(Tyr134Cys) g.50152231A>G Copied from the Exome Variant Server TMBIM6_000048 1/13006 1/8600 0/4406
?/? c.410G>A r.(?) p.(Arg137His) g.50152240G>A Copied from the Exome Variant Server TMBIM6_000049 1/13006 0/8600 1/4406
?/? c.433+5G>A r.spl? p.? g.50152268G>A Copied from the Exome Variant Server TMBIM6_000050 1/13006 0/8600 1/4406
?/? c.433+35C>T r.(=) p.(=) g.50152298C>T Copied from the Exome Variant Server TMBIM6_000051 1/13006 0/8600 1/4406
?/? c.434-3T>C r.spl? p.? g.50152463T>C Copied from the Exome Variant Server TMBIM6_000052 10/13006 0/8600 10/4406
?/? c.513+3A>G r.spl? p.? g.50152548A>G Copied from the Exome Variant Server TMBIM6_000053 1/13006 1/8600 0/4406
?/? c.513+8_513+9del r.(=) p.(=) g.50152553_50152554del Copied from the Exome Variant Server TMBIM6_000054 2/12518 2/8254 0/4264
?/? c.513+40C>T r.(=) p.(=) g.50152585C>T Copied from the Exome Variant Server TMBIM6_000055 1/13006 1/8600 0/4406
?/? c.513+46_513+47del r.(=) p.(=) g.50152591_50152592del Copied from the Exome Variant Server TMBIM6_000056 6/12518 4/8254 2/4264
?/? c.513+48T>C r.(=) p.(=) g.50152593T>C Copied from the Exome Variant Server TMBIM6_000057 7/13006 6/8600 1/4406
?/? c.517A>G r.(?) p.(Asn173Asp) g.50153007A>G Copied from the Exome Variant Server TMBIM6_000058 1/13006 1/8600 0/4406
?/? c.570A>G r.(=) p.(=) g.50153060A>G Copied from the Exome Variant Server TMBIM6_000059 81/13006 0/8600 81/4406
?/? c.573C>T r.(=) p.(=) g.50153063C>T Copied from the Exome Variant Server TMBIM6_000060 1/13006 0/8600 1/4406
?/? c.614+18T>G r.(=) p.(=) g.50153122T>G Copied from the Exome Variant Server TMBIM6_000061 3/13006 3/8600 0/4406
?/? c.614+39G>C r.(=) p.(=) g.50153143G>C Copied from the Exome Variant Server TMBIM6_000062 1/13006 1/8600 0/4406
?/? c.614+49G>A r.(=) p.(=) g.50153153G>A Copied from the Exome Variant Server TMBIM6_000063 1/13006 1/8600 0/4406
?/? c.615-53T>C r.(=) p.(=) g.50155434T>C Copied from the Exome Variant Server TMBIM6_000064 167/4566 53/3182 114/1384
?/? c.615-51G>A r.(=) p.(=) g.50155436G>A Copied from the Exome Variant Server TMBIM6_000065 50/13006 46/8600 4/4406
?/? c.615-8C>T r.(=) p.(=) g.50155479C>T Copied from the Exome Variant Server TMBIM6_000066 2/13004 0/8600 2/4404
?/? c.636A>C r.(?) p.(Leu212Phe) g.50155508A>C Copied from the Exome Variant Server TMBIM6_000067 1/13006 1/8600 0/4406
?/? c.681G>T r.(?) p.(Met227Ile) g.50155553G>T Copied from the Exome Variant Server TMBIM6_000068 1/13006 0/8600 1/4406
?/? c.688A>G r.(?) p.(Lys230Glu) g.50155560A>G Copied from the Exome Variant Server TMBIM6_000069 1/13006 0/8600 1/4406
?/? c.690+1_690+4del r.spl? p.? g.50155563_50155566del Copied from the Exome Variant Server TMBIM6_000070 1/12518 0/8254 1/4264
?/? c.690+9G>C r.(=) p.(=) g.50155571G>C Copied from the Exome Variant Server TMBIM6_000071 1/13006 0/8600 1/4406
?/? c.690+20A>G r.(=) p.(=) g.50155582A>G Copied from the Exome Variant Server TMBIM6_000072 1/13006 0/8600 1/4406
?/? c.691-71G>A r.(=) p.(=) g.50156585G>A Copied from the Exome Variant Server TMBIM6_000073 14/4566 0/3182 14/1384
?/? c.691-16T>C r.(=) p.(=) g.50156640T>C Copied from the Exome Variant Server TMBIM6_000074 1316/13006 580/8600 736/4406
?/? c.*19C>T r.(=) p.(=) g.50156698C>T Copied from the Exome Variant Server TMBIM6_000075 1/13006 1/8600 0/4406
?/? c.*23A>G r.(=) p.(=) g.50156702A>G Copied from the Exome Variant Server TMBIM6_000076 2/13006 2/8600 0/4406
?/? c.*34T>A r.(=) p.(=) g.50156713T>A Copied from the Exome Variant Server TMBIM6_000077 1/13006 1/8600 0/4406
?/? c.*50A>G r.(=) p.(=) g.50156729A>G Copied from the Exome Variant Server TMBIM6_000078 1/13006 1/8600 0/4406
?/? c.*79G>A r.(=) p.(=) g.50156758G>A Copied from the Exome Variant Server TMBIM6_000079 15/4566 15/3182 0/1384
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