Unique variants in gene NABP1

Information The variants shown are described using the NR_045622.1 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 n.170+347C>T r.(=) p.(=) g.192543314C>T Copied from the Exome Variant Server NABP1_000001 1/13000 0/8600 1/4400
1 n.171-362A>G r.(=) p.(=) g.192543354A>G Copied from the Exome Variant Server NABP1_000002 4/13004 4/8600 0/4404
1 n.171-338A>G r.(=) p.(=) g.192543378A>G Copied from the Exome Variant Server NABP1_000003 1/13006 0/8600 1/4406
1 n.171-335T>C r.(=) p.(=) g.192543381T>C Copied from the Exome Variant Server NABP1_000004 2/13006 2/8600 0/4406
1 n.171-257C>T r.(=) p.(=) g.192543459C>T Copied from the Exome Variant Server NABP1_000005 5/12992 0/8598 5/4394
1 n.175C>T r.(?) - g.192543720C>T Copied from the Exome Variant Server NABP1_000006 1/13006 1/8600 0/4406
1 n.193C>A r.(?) - g.192543738C>A Copied from the Exome Variant Server NABP1_000007 1/13006 1/8600 0/4406
1 n.194G>A r.(?) - g.192543739G>A Copied from the Exome Variant Server NABP1_000008 1/13006 1/8600 0/4406
1 n.211G>T r.(?) - g.192543756G>T Copied from the Exome Variant Server NABP1_000009 9/13006 0/8600 9/4406
1 n.251G>T r.(?) - g.192543796G>T Copied from the Exome Variant Server NABP1_000010 1/13006 1/8600 0/4406
1 n.296C>A r.(?) - g.192543841C>A Copied from the Exome Variant Server NABP1_000011 1/13006 1/8600 0/4406
1 n.309+11del r.(=) p.(=) g.192543865del Copied from the Exome Variant Server NABP1_000012 2/12520 1/8254 1/4266
1 n.309+20G>C r.(=) p.(=) g.192543874G>C Copied from the Exome Variant Server NABP1_000013 531/13006 6/8600 525/4406
1 n.309+26C>T r.(=) p.(=) g.192543880C>T Copied from the Exome Variant Server NABP1_000014 1/13006 0/8600 1/4406
1 n.310-4_310-2del r.spl? p.? g.192546668_192546670del Copied from the Exome Variant Server NABP1_000016 1/12512 0/8250 1/4262
1 n.349T>C r.(?) - g.192546711T>C Copied from the Exome Variant Server NABP1_000018 3/12996 0/8590 3/4406
1 n.360G>T r.(?) - g.192546722G>T Copied from the Exome Variant Server NABP1_000020 3/12996 3/8590 0/4406
1 n.381+16C>G r.(=) p.(=) g.192546759C>G Copied from the Exome Variant Server NABP1_000022 2/12992 0/8588 2/4404
1 n.381+34A>T r.(=) p.(=) g.192546777A>T Copied from the Exome Variant Server NABP1_000024 1/12984 1/8584 0/4400
1 n.486-1G>T r.spl? p.? g.192548454G>T Copied from the Exome Variant Server NABP1_000026 1/13006 1/8600 0/4406
1 n.493A>G r.(?) - g.192548462A>G Copied from the Exome Variant Server NABP1_000028 1/13006 1/8600 0/4406
1 n.561+8T>C r.(=) p.(=) g.192548538T>C Copied from the Exome Variant Server NABP1_000030 23/13006 20/8600 3/4406
1 n.562-61_562-59del r.(=) p.(=) g.192548895_192548897del Copied from the Exome Variant Server NABP1_000032 11/12332 5/8188 6/4144
1 n.562-17T>G r.(=) p.(=) g.192548939T>G Copied from the Exome Variant Server NABP1_000034 2/13006 2/8600 0/4406
1 n.562-11C>T r.(=) p.(=) g.192548945C>T Copied from the Exome Variant Server NABP1_000037 1/13006 0/8600 1/4406
1 n.628G>A r.(?) - g.192549022G>A Copied from the Exome Variant Server NABP1_000015 2/13006 2/8600 0/4406
1 n.628+11G>A r.(=) p.(=) g.192549033G>A Copied from the Exome Variant Server NABP1_000017 3/13006 3/8600 0/4406
1 n.650C>G r.(?) - g.192550346C>G Copied from the Exome Variant Server NABP1_000019 1/13006 1/8600 0/4406
1 n.653A>G r.(?) - g.192550349A>G Copied from the Exome Variant Server NABP1_000021 2/13006 0/8600 2/4406
1 n.678T>A r.(?) - g.192550374T>A Copied from the Exome Variant Server NABP1_000023 1/13006 0/8600 1/4406
1 n.712C>A r.(?) - g.192550408C>A Copied from the Exome Variant Server NABP1_000025 1/13006 0/8600 1/4406
1 n.750G>T r.(?) - g.192550446G>T Copied from the Exome Variant Server NABP1_000027 2/13006 2/8600 0/4406
1 n.760A>G r.(?) - g.192550456A>G Copied from the Exome Variant Server NABP1_000029 1/13006 0/8600 1/4406
1 n.778C>T r.(?) - g.192550474C>T Copied from the Exome Variant Server NABP1_000031 1/13006 0/8600 1/4406
1 n.779G>A r.(?) - g.192550475G>A Copied from the Exome Variant Server NABP1_000033 1/13006 1/8600 0/4406
1 n.804G>A r.(?) - g.192550500G>A Copied from the Exome Variant Server NABP1_000035 1/13006 1/8600 0/4406
1 n.806T>G r.(?) - g.192550502T>G Copied from the Exome Variant Server NABP1_000036 2/13006 0/8600 2/4406
1 n.815_816del r.(?) - g.192550511_192550512del Copied from the Exome Variant Server NABP1_000038 6/12520 4/8254 2/4266
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