All transcript variants in gene BMP6

Information The variants shown are described using the NM_001718.4 transcript reference sequence.

113 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.219G>T r.(=) p.(=) g.7727407G>T Copied from the Exome Variant Server BMP6_000001 1/11762 1/7870 0/3892
?/? c.225G>A r.(=) p.(=) g.7727413G>A Copied from the Exome Variant Server BMP6_000002 19/12104 18/8080 1/4024
?/? c.231G>A r.(=) p.(=) g.7727419G>A Copied from the Exome Variant Server BMP6_000003 5/12320 5/8210 0/4110
?/? c.280C>T r.(?) p.(Arg94Trp) g.7727468C>T Copied from the Exome Variant Server BMP6_000004 2/12122 2/8062 0/4060
?/? c.283C>T r.(?) p.(Pro95Ser) g.7727471C>T Copied from the Exome Variant Server BMP6_000005 7/12102 7/8038 0/4064
?/? c.287T>C r.(?) p.(Leu96Pro) g.7727475T>C Copied from the Exome Variant Server BMP6_000006 20/12022 17/7986 3/4036
?/? c.310C>T r.(?) p.(Pro104Ser) g.7727498C>T Copied from the Exome Variant Server BMP6_000007 1/11726 1/7812 0/3914
?/? c.335_337del r.(?) p.(Gln118del) g.7727523_7727525del Copied from the Exome Variant Server BMP6_000009 582/10304 400/6926 182/3378
?/? c.335_337dup r.(?) p.(Gln118dup) g.7727523_7727525dup Copied from the Exome Variant Server BMP6_000008 170/10304 66/6926 104/3378
?/? c.337C>G r.(?) p.(Gln113Glu) g.7727525C>G Copied from the Exome Variant Server BMP6_000010 78/11774 15/7838 63/3936
?/? c.339G>A r.(=) p.(=) g.7727527G>A Copied from the Exome Variant Server BMP6_000011 7/11762 7/7828 0/3934
?/? c.341A>G r.(?) p.(Gln114Arg) g.7727529A>G Copied from the Exome Variant Server BMP6_000012 1/11742 1/7802 0/3940
?/? c.352C>A r.(?) p.(Gln118Lys) g.7727540C>A Copied from the Exome Variant Server BMP6_000013 1/12082 0/8032 1/4050
?/? c.372C>G r.(=) p.(=) g.7727560C>G Copied from the Exome Variant Server BMP6_000014 1/12626 0/8342 1/4284
?/? c.395C>T r.(?) p.(Ala132Val) g.7727583C>T Copied from the Exome Variant Server BMP6_000015 1/12952 1/8574 0/4378
?/? c.420C>T r.(=) p.(=) g.7727608C>T Copied from the Exome Variant Server BMP6_000016 1/12956 1/8580 0/4376
?/? c.441C>G r.(?) p.(Asn147Lys) g.7727629C>G Copied from the Exome Variant Server BMP6_000017 1/12838 0/8506 1/4332
?/? c.453G>T r.(=) p.(=) g.7727641G>T Copied from the Exome Variant Server BMP6_000018 11/12732 11/8442 0/4290
?/? c.456G>A r.(=) p.(=) g.7727644G>A Copied from the Exome Variant Server BMP6_000019 1/12718 0/8448 1/4270
?/? c.479C>T r.(?) p.(Ser160Phe) g.7727667C>T Copied from the Exome Variant Server BMP6_000020 1/12770 0/8490 1/4280
?/? c.480C>T r.(=) p.(=) g.7727668C>T Copied from the Exome Variant Server BMP6_000021 27/12768 27/8492 0/4276
?/? c.634G>A r.(?) p.(Ala212Thr) g.7727822G>A Copied from the Exome Variant Server BMP6_000022 17/11126 1/7424 16/3702
?/? c.636G>A r.(=) p.(=) g.7727824G>A Copied from the Exome Variant Server BMP6_000023 26/11042 1/7364 25/3678
?/? c.637G>A r.(?) p.(Asp213Asn) g.7727825G>A Copied from the Exome Variant Server BMP6_000025 1/11016 0/7354 1/3662
?/? c.657G>A r.(=) p.(=) g.7727845G>A Copied from the Exome Variant Server BMP6_000027 1/10914 1/7268 0/3646
?/? c.664+1G>A r.spl? p.? g.7727853G>A Copied from the Exome Variant Server BMP6_000024 2/10740 0/7158 2/3582
?/? c.664+26C>A r.(=) p.(=) g.7727878C>A Copied from the Exome Variant Server BMP6_000026 8/10432 6/6966 2/3466
?/? c.664+32C>G r.(=) p.(=) g.7727884C>G Copied from the Exome Variant Server BMP6_000028 1/10314 1/6870 0/3444
?/? c.665-17009G>A r.(=) p.(=) g.7828364G>A Copied from the Exome Variant Server BMP6_000029 3/4566 0/3182 3/1384
?/? c.665-16831C>T r.(=) p.(=) g.7828542C>T Copied from the Exome Variant Server BMP6_000030 1711/4566 1233/3182 478/1384
?/? c.665-15676G>A r.(=) p.(=) g.7829697G>A Copied from the Exome Variant Server BMP6_000031 34/4566 31/3182 3/1384
?/? c.665-14217A>G r.(=) p.(=) g.7831156A>G Copied from the Exome Variant Server BMP6_000032 1/4566 1/3182 0/1384
?/? c.665-14161C>T r.(=) p.(=) g.7831212C>T Copied from the Exome Variant Server BMP6_000033 4/4566 3/3182 1/1384
?/? c.665-14160G>A r.(=) p.(=) g.7831213G>A Copied from the Exome Variant Server BMP6_000034 42/4566 0/3182 42/1384
?/? c.665-14056T>C r.(=) p.(=) g.7831317T>C Copied from the Exome Variant Server BMP6_000035 8/4566 0/3182 8/1384
?/? c.665-11436G>A r.(=) p.(=) g.7833937G>A Copied from the Exome Variant Server BMP6_000036 296/4566 101/3182 195/1384
?/? c.665-11405G>A r.(=) p.(=) g.7833968G>A Copied from the Exome Variant Server BMP6_000037 115/4566 106/3182 9/1384
?/? c.665-11398A>C r.(=) p.(=) g.7833975A>C Copied from the Exome Variant Server BMP6_000039 9/4566 8/3182 1/1384
?/? c.665-11398del r.(=) p.(=) g.7833975del Copied from the Exome Variant Server BMP6_000038 25/6408 23/4248 2/2160
?/? c.665-11354G>A r.(=) p.(=) g.7834019G>A Copied from the Exome Variant Server BMP6_000040 1839/4566 1339/3182 500/1384
?/? c.665-11348A>G r.(=) p.(=) g.7834025A>G Copied from the Exome Variant Server BMP6_000041 1/4566 0/3182 1/1384
?/? c.665-10638C>G r.(=) p.(=) g.7834735C>G Copied from the Exome Variant Server BMP6_000042 333/4562 98/3178 235/1384
?/? c.665-10618del r.(=) p.(=) g.7834755del Copied from the Exome Variant Server BMP6_000044 108/5432 68/3684 40/1748
?/? c.665-10618dup r.(=) p.(=) g.7834755dup Copied from the Exome Variant Server BMP6_000043 1172/5432 659/3684 513/1748
?/? c.665-10618_665-10617insTT r.(=) p.(=) g.7834755_7834756insTT Copied from the Exome Variant Server BMP6_000045 195/5432 80/3684 115/1748
?/? c.665-10606del r.(=) p.(=) g.7834767del Copied from the Exome Variant Server BMP6_000046 2621/5502 1717/3732 904/1770
?/? c.665-8425T>C r.(=) p.(=) g.7836948T>C Copied from the Exome Variant Server BMP6_000047 15/4564 14/3180 1/1384
?/? c.665-5077C>T r.(=) p.(=) g.7840296C>T Copied from the Exome Variant Server BMP6_000048 34/4566 0/3182 34/1384
?/? c.665-5068C>T r.(=) p.(=) g.7840305C>T Copied from the Exome Variant Server BMP6_000049 1714/4566 1225/3182 489/1384
?/? c.665-5008C>T r.(=) p.(=) g.7840365C>T Copied from the Exome Variant Server BMP6_000050 2/4566 0/3182 2/1384
?/? c.665-4992A>G r.(=) p.(=) g.7840381A>G Copied from the Exome Variant Server BMP6_000052 4559/4566 3175/3182 1384/1384
?/? c.665-4955_665-4954del r.(=) p.(=) g.7840418_7840419del Copied from the Exome Variant Server BMP6_000054 1/7128 0/4644 1/2484
?/? c.665-567C>T r.(=) p.(=) g.7844806C>T Copied from the Exome Variant Server BMP6_000056 35/4566 34/3182 1/1384
?/? c.665-537_665-536insC r.(=) p.(=) g.7844836_7844837insC Copied from the Exome Variant Server BMP6_000051 1/6426 0/4272 1/2154
?/? c.665-520G>A r.(=) p.(=) g.7844853G>A Copied from the Exome Variant Server BMP6_000053 3/4566 3/3182 0/1384
?/? c.665-48C>T r.(=) p.(=) g.7845325C>T Copied from the Exome Variant Server BMP6_000055 2/13006 2/8600 0/4406
?/? c.672C>T r.(=) p.(=) g.7845380C>T Copied from the Exome Variant Server BMP6_000057 1/13006 1/8600 0/4406
?/? c.760G>A r.(?) p.(Ala254Thr) g.7845468G>A Copied from the Exome Variant Server BMP6_000058 1/13006 0/8600 1/4406
?/? c.770G>A r.(?) p.(Arg257His) g.7845478G>A Copied from the Exome Variant Server BMP6_000059 52/13006 4/8600 48/4406
?/? c.833A>G r.(?) p.(Gln278Arg) g.7845541A>G Copied from the Exome Variant Server BMP6_000060 1/13006 1/8600 0/4406
?/? c.852G>C r.(?) p.(Gln284His) g.7845560G>C Copied from the Exome Variant Server BMP6_000061 1/13006 0/8600 1/4406
?/? c.857+12C>T r.(=) p.(=) g.7845577C>T Copied from the Exome Variant Server BMP6_000062 811/13006 726/8600 85/4406
?/? c.857+13G>A r.(=) p.(=) g.7845578G>A Copied from the Exome Variant Server BMP6_000063 4/13006 4/8600 0/4406
?/? c.857+28G>A r.(=) p.(=) g.7845593G>A Copied from the Exome Variant Server BMP6_000064 1/13006 1/8600 0/4406
?/? c.857+4294C>T r.(=) p.(=) g.7849859C>T Copied from the Exome Variant Server BMP6_000065 1/4564 0/3180 1/1384
?/? c.857+4295G>A r.(=) p.(=) g.7849860G>A Copied from the Exome Variant Server BMP6_000066 3/4564 0/3180 3/1384
?/? c.857+4340T>G r.(=) p.(=) g.7849905T>G Copied from the Exome Variant Server BMP6_000067 1/4566 1/3182 0/1384
?/? c.876G>A r.(=) p.(=) g.7861702G>A Copied from the Exome Variant Server BMP6_000068 1/13006 0/8600 1/4406
?/? c.877T>C r.(=) p.(=) g.7861703T>C Copied from the Exome Variant Server BMP6_000070 25/13006 0/8600 25/4406
?/? c.922T>A r.(?) p.(Phe308Ile) g.7861748T>A Copied from the Exome Variant Server BMP6_000072 2/13006 0/8600 2/4406
?/? c.946C>T r.(=) p.(=) g.7861772C>T Copied from the Exome Variant Server BMP6_000074 3/13006 0/8600 3/4406
?/? c.1006+8A>G r.(=) p.(=) g.7861840A>G Copied from the Exome Variant Server BMP6_000076 2/13006 0/8600 2/4406
?/? c.1006+23C>T r.(=) p.(=) g.7861855C>T Copied from the Exome Variant Server BMP6_000078 1/13006 1/8600 0/4406
?/? c.1006+44G>T r.(=) p.(=) g.7861876G>T Copied from the Exome Variant Server BMP6_000080 3/13006 2/8600 1/4406
?/? c.1014C>T r.(=) p.(=) g.7862541C>T Copied from the Exome Variant Server BMP6_000082 66/13006 0/8600 66/4406
?/? c.1028C>T r.(?) p.(Ala343Val) g.7862555C>T Copied from the Exome Variant Server BMP6_000084 8/13006 0/8600 8/4406
?/? c.1029C>T r.(=) p.(=) g.7862556C>T Copied from the Exome Variant Server BMP6_000086 407/13006 374/8600 33/4406
?/? c.1060G>A r.(?) p.(Asp354Asn) g.7862587G>A Copied from the Exome Variant Server BMP6_000088 1/13006 0/8600 1/4406
?/? c.1062C>T r.(=) p.(=) g.7862589C>T Copied from the Exome Variant Server BMP6_000113 734/13006 509/8600 225/4406
?/? c.1064A>G r.(?) p.(Lys355Arg) g.7862591A>G Copied from the Exome Variant Server BMP6_000069 1/13006 0/8600 1/4406
?/? c.1104G>C r.(=) p.(=) g.7862631G>C Copied from the Exome Variant Server BMP6_000071 6274/13006 3224/8600 3050/4406
?/? c.1108G>A r.(?) p.(Val370Met) g.7862635G>A Copied from the Exome Variant Server BMP6_000073 1/13006 1/8600 0/4406
?/? c.1135C>T r.(?) p.(Arg379Trp) g.7862662C>T Copied from the Exome Variant Server BMP6_000075 1/13006 1/8600 0/4406
?/? c.1142G>A r.(?) p.(Arg381Gln) g.7862669G>A Copied from the Exome Variant Server BMP6_000077 3/13006 2/8600 1/4406
?/? c.1161C>T r.(=) p.(=) g.7862688C>T Copied from the Exome Variant Server BMP6_000079 1/13006 1/8600 0/4406
?/? c.1180G>A r.(?) p.(Val394Met) g.7862707G>A Copied from the Exome Variant Server BMP6_000081 8/13006 8/8600 0/4406
?/? c.1187G>A r.(?) p.(Arg396Gln) g.7862714G>A Copied from the Exome Variant Server BMP6_000083 1/13006 0/8600 1/4406
?/? c.1204+44C>A r.(=) p.(=) g.7862775C>A Copied from the Exome Variant Server BMP6_000085 81/13006 72/8600 9/4406
?/? c.1205-61G>A r.(=) p.(=) g.7879246G>A Copied from the Exome Variant Server BMP6_000087 18/4566 17/3182 1/1384
?/? c.1252T>C r.(?) p.(Tyr418His) g.7879354T>C Copied from the Exome Variant Server BMP6_000089 1/13006 1/8600 0/4406
?/? c.1281+3G>A r.spl? p.? g.7879386G>A Copied from the Exome Variant Server BMP6_000090 1/13006 1/8600 0/4406
?/? c.1281+5G>A r.spl? p.? g.7879388G>A Copied from the Exome Variant Server BMP6_000091 1/13006 1/8600 0/4406
?/? c.1281+10C>T r.(=) p.(=) g.7879393C>T Copied from the Exome Variant Server BMP6_000092 1/13006 1/8600 0/4406
?/? c.1281+24T>C r.(=) p.(=) g.7879407T>C Copied from the Exome Variant Server BMP6_000093 6994/13006 3790/8600 3204/4406
?/? c.1281+32C>G r.(=) p.(=) g.7879415C>G Copied from the Exome Variant Server BMP6_000094 1/13006 1/8600 0/4406
?/? c.1282-50T>A r.(=) p.(=) g.7880174T>A Copied from the Exome Variant Server BMP6_000095 1/13006 1/8600 0/4406
?/? c.1349A>G r.(?) p.(Asn450Ser) g.7880291A>G Copied from the Exome Variant Server BMP6_000096 6/13006 1/8600 5/4406
?/? c.1351G>A r.(?) p.(Ala451Thr) g.7880293G>A Copied from the Exome Variant Server BMP6_000097 1/13006 1/8600 0/4406
?/? c.1374C>T r.(=) p.(=) g.7880316C>T Copied from the Exome Variant Server BMP6_000098 6/13006 6/8600 0/4406
?/? c.1383G>T r.(=) p.(=) g.7880325G>T Copied from the Exome Variant Server BMP6_000099 1/13006 0/8600 1/4406
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