Unique variants in gene BAD

Information The variants shown are described using the NM_032989.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-9+5_-9+6insTGAG r.(=) p.(=) g.64052097_64052098insCTCA Copied from the Exome Variant Server GPR137_000009 13/7616 8/5246 5/2370
1 c.-8-42G>T r.(=) p.(=) g.64051890C>A Copied from the Exome Variant Server GPR137_000008 2/12996 2/8594 0/4402
1 c.-8-41C>T r.(=) p.(=) g.64051889G>A Copied from the Exome Variant Server GPR137_000007 1/12996 1/8594 0/4402
1 c.-8-22A>T r.(=) p.(=) g.64051870T>A Copied from the Exome Variant Server GPR137_000006 1/12996 0/8594 1/4402
1 c.-8-19T>A r.(=) p.(=) g.64051867A>T Copied from the Exome Variant Server GPR137_000005 1/12996 0/8594 1/4402
1 c.-8-15A>G r.(=) p.(=) g.64051863T>C Copied from the Exome Variant Server GPR137_000004 1/12996 1/8594 0/4402
1 c.-8-5C>T r.(=) p.(=) g.64051853G>A Copied from the Exome Variant Server GPR137_000003 196/12996 3/8594 193/4402
1 c.18G>A r.(=) p.(=) g.64051823C>T Copied from the Exome Variant Server GPR137_000002 388/12994 350/8592 38/4402
1 c.19T>G r.(?) p.(Phe7Val) g.64051822A>C Copied from the Exome Variant Server GPR137_000001 2/12994 2/8592 0/4402
1 c.85G>A r.(?) p.(Asp29Asn) g.64051756C>T Copied from the Exome Variant Server BAD_000030 1/12996 1/8594 0/4402
1 c.88G>A r.(?) p.(Gly30Arg) g.64051753C>T Copied from the Exome Variant Server BAD_000029 1/12994 0/8592 1/4402
1 c.103G>A r.(?) p.(Gly35Ser) g.64051738C>T Copied from the Exome Variant Server BAD_000027 1/12994 1/8594 0/4400
1 c.121G>A r.(?) p.(Ala41Thr) g.64051720C>T Copied from the Exome Variant Server BAD_000025 1/12996 1/8594 0/4402
1 c.153G>A r.(=) p.(=) g.64051688C>T Copied from the Exome Variant Server BAD_000023 1/12984 0/8582 1/4402
1 c.168C>T r.(=) p.(=) g.64051673G>A Copied from the Exome Variant Server BAD_000021 5/12970 0/8574 5/4396
1 c.187+17C>G r.(=) p.(=) g.64051637G>C Copied from the Exome Variant Server BAD_000019 1/12968 1/8568 0/4400
1 c.187+31A>G r.(=) p.(=) g.64051623T>C Copied from the Exome Variant Server BAD_000028 1/12952 0/8558 1/4394
1 c.187+48C>T r.(=) p.(=) g.64051606G>A Copied from the Exome Variant Server BAD_000026 1/12880 0/8516 1/4364
1 c.216C>T r.(=) p.(=) g.64039247G>A Copied from the Exome Variant Server BAD_000024 1/12962 0/8568 1/4394
1 c.218A>G r.(?) p.(His73Arg) g.64039245T>C Copied from the Exome Variant Server BAD_000022 2/12964 0/8570 2/4394
1 c.243G>A r.(=) p.(=) g.64039220C>T Copied from the Exome Variant Server BAD_000020 1/12964 0/8572 1/4392
1 c.244G>A r.(?) p.(Asp82Asn) g.64039219C>T Copied from the Exome Variant Server BAD_000018 1/12966 1/8574 0/4392
1 c.246C>G r.(?) p.(Asp82Glu) g.64039217G>C Copied from the Exome Variant Server BAD_000017 4/12962 0/8572 4/4390
1 c.255G>C r.(=) p.(=) g.64039208C>G Copied from the Exome Variant Server BAD_000016 1/12956 0/8566 1/4390
1 c.288C>T r.(=) p.(=) g.64039175G>A Copied from the Exome Variant Server BAD_000015 1471/12878 1290/8524 181/4354
1 c.309C>T r.(=) p.(=) g.64039154G>A Copied from the Exome Variant Server BAD_000014 2/12762 2/8442 0/4320
1 c.327C>T r.(=) p.(=) g.64039136G>A Copied from the Exome Variant Server BAD_000013 46/12564 0/8322 46/4242
1 c.378+6C>T r.(=) p.(=) g.64039079G>A Copied from the Exome Variant Server BAD_000012 2/11342 2/7486 0/3856
1 c.378+51_378+52insCC r.(=) p.(=) g.64039033_64039034insGG Copied from the Exome Variant Server BAD_000011 359/7802 212/5004 147/2798
1 c.379-46C>G r.(=) p.(=) g.64037855G>C Copied from the Exome Variant Server BAD_000010 1/12996 0/8594 1/4402
1 c.379-27_379-17del r.(=) p.(=) g.64037826_64037836del Copied from the Exome Variant Server BAD_000009 3/12518 0/8254 3/4264
1 c.399G>A r.(=) p.(=) g.64037789C>T Copied from the Exome Variant Server BAD_000008 1/12996 0/8594 1/4402
1 c.420G>A r.(=) p.(=) g.64037768C>T Copied from the Exome Variant Server BAD_000007 1/12996 0/8594 1/4402
1 c.450C>T r.(=) p.(=) g.64037738G>A Copied from the Exome Variant Server BAD_000006 1/12996 1/8594 0/4402
1 c.455A>G r.(?) p.(Gln152Arg) g.64037733T>C Copied from the Exome Variant Server BAD_000005 2/12996 2/8594 0/4402
1 c.462G>C r.(?) p.(Trp154Cys) g.64037726C>G Copied from the Exome Variant Server BAD_000004 9/12996 9/8594 0/4402
1 c.486A>T r.(=) p.(=) g.64037702T>A Copied from the Exome Variant Server BAD_000003 33/12996 0/8594 33/4402
1 c.*11A>T r.(=) p.(=) g.64037670T>A Copied from the Exome Variant Server BAD_000002 1/12996 1/8594 0/4402
1 c.*25C>T r.(=) p.(=) g.64037656G>A Copied from the Exome Variant Server BAD_000001 2/12996 2/8594 0/4402
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