Full data view for gene BMPR1A

Information The variants shown are described using the NM_004329.2 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
Legend  

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.-54T>C r.(=) p.(=) g.88635722T>C Copied from the Exome Variant Server BMPR1A_000001 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-25A>G r.(=) p.(=) g.88635751A>G Copied from the Exome Variant Server BMPR1A_000002 215/13006 7/8600 208/4406 - - - - - - -
?/? c.-24C>T r.(=) p.(=) g.88635752C>T Copied from the Exome Variant Server BMPR1A_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.4C>A r.(?) p.(Pro2Thr) g.88635779C>A Copied from the Exome Variant Server BMPR1A_000004 5066/13006 2203/8600 2863/4406 - - - - - - -
?/? c.5C>T r.(?) p.(Pro2Leu) g.88635780C>T Copied from the Exome Variant Server BMPR1A_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.47T>A r.(?) p.(Phe16Tyr) g.88635822T>A Copied from the Exome Variant Server BMPR1A_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.67+25T>C r.(=) p.(=) g.88635867T>C Copied from the Exome Variant Server BMPR1A_000007 9/13006 1/8600 8/4406 - - - - - - -
?/? c.67+46C>T r.(=) p.(=) g.88635888C>T Copied from the Exome Variant Server BMPR1A_000008 249/13006 3/8600 246/4406 - - - - - - -
?/? c.67+62T>C r.(=) p.(=) g.88635904T>C Copied from the Exome Variant Server BMPR1A_000009 7/4566 5/3182 2/1384 - - - - - - -
?/? c.83G>A r.(?) p.(Ser28Asn) g.88649834G>A Copied from the Exome Variant Server BMPR1A_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.98C>G r.(?) p.(Thr33Ser) g.88649849C>G Copied from the Exome Variant Server BMPR1A_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.140G>T r.(?) p.(Gly47Val) g.88649891G>T Copied from the Exome Variant Server BMPR1A_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.183C>T r.(=) p.(=) g.88649934C>T Copied from the Exome Variant Server BMPR1A_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.198C>T r.(=) p.(=) g.88649949C>T Copied from the Exome Variant Server BMPR1A_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.231-25T>A r.(=) p.(=) g.88651859T>A Copied from the Exome Variant Server BMPR1A_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.253A>G r.(?) p.(Ile85Val) g.88651906A>G Copied from the Exome Variant Server BMPR1A_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.333+28C>G r.(=) p.(=) g.88652014C>G Copied from the Exome Variant Server BMPR1A_000017 10/13006 0/8600 10/4406 - - - - - - -
?/? c.333+45A>G r.(=) p.(=) g.88652031A>G Copied from the Exome Variant Server BMPR1A_000018 17/13006 0/8600 17/4406 - - - - - - -
?/? c.334-51T>C r.(=) p.(=) g.88659500T>C Copied from the Exome Variant Server BMPR1A_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.383A>G r.(?) p.(Asn128Ser) g.88659600A>G Copied from the Exome Variant Server BMPR1A_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.418C>T r.(?) p.(Pro140Ser) g.88659635C>T Copied from the Exome Variant Server BMPR1A_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.430+25G>A r.(=) p.(=) g.88659672G>A Copied from the Exome Variant Server BMPR1A_000022 3/13006 3/8600 0/4406 - - - - - - -
?/? c.430+40A>G r.(=) p.(=) g.88659687A>G Copied from the Exome Variant Server BMPR1A_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.431-52G>A r.(=) p.(=) g.88659732G>A Copied from the Exome Variant Server BMPR1A_000024 1/5734 0/3982 1/1752 - - - - - - -
?/? c.431-30A>G r.(=) p.(=) g.88659754A>G Copied from the Exome Variant Server BMPR1A_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.431-26T>A r.(=) p.(=) g.88659758T>A Copied from the Exome Variant Server BMPR1A_000026 893/13006 158/8600 735/4406 - - - - - - -
?/? c.435G>A r.(=) p.(=) g.88659788G>A Copied from the Exome Variant Server BMPR1A_000027 582/13006 9/8600 573/4406 - - - - - - -
?/? c.440T>C r.(?) p.(Phe147Ser) g.88659793T>C Copied from the Exome Variant Server BMPR1A_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.478A>G r.(?) p.(Met160Val) g.88659831A>G Copied from the Exome Variant Server BMPR1A_000029 2/13000 0/8594 2/4406 - - - - - - -
?/? c.499A>G r.(?) p.(Met167Val) g.88659852A>G Copied from the Exome Variant Server BMPR1A_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.511T>C r.(?) p.(Ser171Pro) g.88659864T>C Copied from the Exome Variant Server BMPR1A_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.524G>A r.(?) p.(Cys175Tyr) g.88659877G>A Copied from the Exome Variant Server BMPR1A_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.530+13T>G r.(=) p.(=) g.88659896T>G Copied from the Exome Variant Server BMPR1A_000033 5/13006 5/8600 0/4406 - - - - - - -
?/? c.530+39A>G r.(=) p.(=) g.88659922A>G Copied from the Exome Variant Server BMPR1A_000034 1/13004 0/8600 1/4404 - - - - - - -
?/? c.531-51G>A r.(=) p.(=) g.88671946G>A Copied from the Exome Variant Server BMPR1A_000035 1/12962 1/8592 0/4370 - - - - - - -
?/? c.531-22T>C r.(=) p.(=) g.88671975T>C Copied from the Exome Variant Server BMPR1A_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.587A>G r.(?) p.(Asp196Gly) g.88672053A>G Copied from the Exome Variant Server BMPR1A_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.594A>G r.(=) p.(=) g.88672060A>G Copied from the Exome Variant Server BMPR1A_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.618A>G r.(=) p.(=) g.88672084A>G Copied from the Exome Variant Server BMPR1A_000039 39/13006 0/8600 39/4406 - - - - - - -
?/? c.675+12G>A r.(=) p.(=) g.88672153G>A Copied from the Exome Variant Server BMPR1A_000040 565/13006 8/8600 557/4406 - - - - - - -
?/? c.675+30G>A r.(=) p.(=) g.88672171G>A Copied from the Exome Variant Server BMPR1A_000041 2/13006 1/8600 1/4406 - - - - - - -
?/? c.731G>A r.(?) p.(Arg244Gln) g.88676946G>A Copied from the Exome Variant Server BMPR1A_000042 1/13000 1/8594 0/4406 - - - - - - -
?/? c.733T>A r.(?) p.(Tyr245Asn) g.88676948T>A Copied from the Exome Variant Server BMPR1A_000043 2/13000 2/8594 0/4406 - - - - - - -
?/? c.762T>C r.(=) p.(=) g.88676977T>C Copied from the Exome Variant Server BMPR1A_000044 2/12966 0/8562 2/4404 - - - - - - -
?/? c.841G>A r.(?) p.(Val281Met) g.88677056G>A Copied from the Exome Variant Server BMPR1A_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.868+44A>G r.(=) p.(=) g.88677127A>G Copied from the Exome Variant Server BMPR1A_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.961C>T r.(=) p.(=) g.88679021C>T Copied from the Exome Variant Server BMPR1A_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1140C>T r.(=) p.(=) g.88679200C>T Copied from the Exome Variant Server BMPR1A_000050 240/13006 225/8600 15/4406 - - - - - - -
?/? c.1243G>A r.(?) p.(Glu415Lys) g.88681353G>A Copied from the Exome Variant Server BMPR1A_000051 6/13006 6/8600 0/4406 - - - - - - -
?/? c.1299C>T r.(=) p.(=) g.88681409C>T Copied from the Exome Variant Server BMPR1A_000053 17/13002 0/8596 17/4406 - - - - - - -
?/? c.1327C>T r.(?) p.(Arg443Cys) g.88681437C>T Copied from the Exome Variant Server BMPR1A_000047 7/13006 6/8600 1/4406 - - - - - - -
?/? c.1342+6A>G r.(=) p.(=) g.88681458A>G Copied from the Exome Variant Server BMPR1A_000069 314/13006 4/8600 310/4406 - - - - - - -
?/? c.1342+23A>C r.(=) p.(=) g.88681475A>C Copied from the Exome Variant Server BMPR1A_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1343-30T>C r.(=) p.(=) g.88683103T>C Copied from the Exome Variant Server BMPR1A_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1343-11T>C r.(=) p.(=) g.88683122T>C Copied from the Exome Variant Server BMPR1A_000054 5070/13006 2193/8600 2877/4406 - - - - - - -
?/? c.1348G>A r.(?) p.(Val450Met) g.88683138G>A Copied from the Exome Variant Server BMPR1A_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1395G>C r.(=) p.(=) g.88683185G>C Copied from the Exome Variant Server BMPR1A_000056 19/13004 1/8598 18/4406 - - - - - - -
?/? c.1401C>T r.(=) p.(=) g.88683191C>T Copied from the Exome Variant Server BMPR1A_000057 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1419T>G r.(=) p.(=) g.88683209T>G Copied from the Exome Variant Server BMPR1A_000058 10/13000 10/8594 0/4406 - - - - - - -
?/? c.1432C>T r.(?) p.(Arg478Cys) g.88683222C>T Copied from the Exome Variant Server BMPR1A_000059 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1433G>A r.(?) p.(Arg478His) g.88683223G>A Copied from the Exome Variant Server BMPR1A_000060 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1473+34C>T r.(=) p.(=) g.88683297C>T Copied from the Exome Variant Server BMPR1A_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1474-10T>C r.(=) p.(=) g.88683341T>C Copied from the Exome Variant Server BMPR1A_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1474-9A>G r.(=) p.(=) g.88683342A>G Copied from the Exome Variant Server BMPR1A_000063 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1498A>G r.(?) p.(Met500Val) g.88683375A>G Copied from the Exome Variant Server BMPR1A_000064 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1513G>A r.(?) p.(Ala505Thr) g.88683390G>A Copied from the Exome Variant Server BMPR1A_000065 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1560G>A r.(=) p.(=) g.88683437G>A Copied from the Exome Variant Server BMPR1A_000066 19/13006 0/8600 19/4406 - - - - - - -
?/? c.*30A>G r.(=) p.(=) g.88683506A>G Copied from the Exome Variant Server BMPR1A_000067 1/12944 0/8576 1/4368 - - - - - - -
?/? c.*43_*45del r.(=) p.(=) g.88683519_88683521del Copied from the Exome Variant Server BMPR1A_000068 18/12302 0/8144 18/4158 - - - - - - -
Legend