All transcript variants in gene RAB1B

Information The variants shown are described using the NM_030981.2 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-15_-13del r.(=) p.(=) g.66036136_66036138del Copied from the Exome Variant Server RAB1B_000001 103/11220 68/7484 35/3736
?/? c.-15_-13dup r.(=) p.(=) g.66036136_66036138dup Copied from the Exome Variant Server RAB1B_000002 3/11220 3/7484 0/3736
?/? c.-10C>T r.(=) p.(=) g.66036141C>T Copied from the Exome Variant Server RAB1B_000003 7/12338 0/8190 7/4148
?/? c.14+33G>A r.(=) p.(=) g.66036197G>A Copied from the Exome Variant Server RAB1B_000004 1/12612 1/8364 0/4248
?/? c.15-50G>A r.(=) p.(=) g.66039218G>A Copied from the Exome Variant Server RAB1B_000005 2/12990 2/8590 0/4400
?/? c.15-49T>C r.(=) p.(=) g.66039219T>C Copied from the Exome Variant Server RAB1B_000006 1/12990 1/8590 0/4400
?/? c.15-12T>C r.(=) p.(=) g.66039256T>C Copied from the Exome Variant Server RAB1B_000007 6/12990 5/8590 1/4400
?/? c.54C>T r.(=) p.(=) g.66039307C>T Copied from the Exome Variant Server RAB1B_000008 3/12990 0/8590 3/4400
?/? c.69C>T r.(=) p.(=) g.66039322C>T Copied from the Exome Variant Server RAB1B_000009 1/12990 0/8590 1/4400
?/? c.87+12G>A r.(=) p.(=) g.66039352G>A Copied from the Exome Variant Server RAB1B_000010 1/12990 1/8590 0/4400
?/? c.87+12_87+13insCCTC r.(=) p.(=) g.66039352_66039353insCCTC Copied from the Exome Variant Server RAB1B_000011 1/12516 1/8252 0/4264
?/? c.87+24A>G r.(=) p.(=) g.66039364A>G Copied from the Exome Variant Server RAB1B_000012 2/12990 2/8590 0/4400
?/? c.87+27C>T r.(=) p.(=) g.66039367C>T Copied from the Exome Variant Server RAB1B_000013 68/12990 0/8590 68/4400
?/? c.87+29C>G r.(=) p.(=) g.66039369C>G Copied from the Exome Variant Server RAB1B_000014 1/12990 1/8590 0/4400
?/? c.87+52G>T r.(=) p.(=) g.66039392G>T Copied from the Exome Variant Server RAB1B_000015 64/7272 62/4618 2/2654
?/? c.135C>T r.(=) p.(=) g.66039675C>T Copied from the Exome Variant Server RAB1B_000016 1/12990 0/8590 1/4400
?/? c.183+27C>T r.(=) p.(=) g.66039750C>T Copied from the Exome Variant Server RAB1B_000017 2/12990 2/8590 0/4400
?/? c.184-24G>A r.(=) p.(=) g.66039812G>A Copied from the Exome Variant Server RAB1B_000018 2/12990 2/8590 0/4400
?/? c.184-12A>G r.(=) p.(=) g.66039824A>G Copied from the Exome Variant Server RAB1B_000019 3/12990 3/8590 0/4400
?/? c.234C>T r.(=) p.(=) g.66039886C>T Copied from the Exome Variant Server RAB1B_000021 1/12990 0/8590 1/4400
?/? c.280-40A>C r.(=) p.(=) g.66043235A>C Copied from the Exome Variant Server RAB1B_000023 1/12860 0/8502 1/4358
?/? c.280-22T>C r.(=) p.(=) g.66043253T>C Copied from the Exome Variant Server RAB1B_000025 2751/12914 2370/8548 381/4366
?/? c.280-16C>T r.(=) p.(=) g.66043259C>T Copied from the Exome Variant Server RAB1B_000020 2/12918 0/8546 2/4372
?/? c.280-7C>T r.(=) p.(=) g.66043268C>T Copied from the Exome Variant Server RAB1B_000022 1/12942 1/8564 0/4378
?/? c.288C>T r.(=) p.(=) g.66043283C>T Copied from the Exome Variant Server RAB1B_000024 2/12974 2/8580 0/4394
?/? c.323G>T r.(?) p.(Arg108Leu) g.66043318G>T Copied from the Exome Variant Server RAB1B_000026 1/12976 1/8580 0/4396
?/? c.339C>T r.(=) p.(=) g.66043334C>T Copied from the Exome Variant Server RAB1B_000027 2/12982 0/8584 2/4398
?/? c.344A>G r.(?) p.(Asn115Ser) g.66043339A>G Copied from the Exome Variant Server RAB1B_000028 1/12984 1/8586 0/4398
?/? c.393G>A r.(=) p.(=) g.66043388G>A Copied from the Exome Variant Server RAB1B_000029 4/12988 4/8588 0/4400
?/? c.411+10G>A r.(=) p.(=) g.66043416G>A Copied from the Exome Variant Server RAB1B_000030 1/12988 0/8590 1/4398
?/? c.411+23C>A r.(=) p.(=) g.66043429C>A Copied from the Exome Variant Server RAB1B_000031 1/12988 1/8590 0/4398
?/? c.411+24G>A r.(=) p.(=) g.66043430G>A Copied from the Exome Variant Server RAB1B_000032 24/12988 22/8590 2/4398
?/? c.412-49_412-35del r.(=) p.(=) g.66043466_66043480del Copied from the Exome Variant Server RAB1B_000033 66/12508 53/8252 13/4256
?/? c.412-35T>C r.(=) p.(=) g.66043480T>C Copied from the Exome Variant Server RAB1B_000034 1/12988 1/8590 0/4398
?/? c.412-19_412-15del r.(=) p.(=) g.66043496_66043500del Copied from the Exome Variant Server RAB1B_000035 31/12516 22/8254 9/4262
?/? c.424T>A r.(?) p.(Ser142Thr) g.66043527T>A Copied from the Exome Variant Server RAB1B_000036 1/12990 1/8590 0/4400
?/? c.450G>A r.(=) p.(=) g.66043553G>A Copied from the Exome Variant Server RAB1B_000037 2/12990 2/8590 0/4400
?/? c.471T>C r.(=) p.(=) g.66043574T>C Copied from the Exome Variant Server RAB1B_000038 2/12990 2/8590 0/4400
?/? c.475G>A r.(?) p.(Glu159Lys) g.66043578G>A Copied from the Exome Variant Server RAB1B_000039 1/12990 0/8590 1/4400
?/? c.483G>A r.(=) p.(=) g.66043586G>A Copied from the Exome Variant Server RAB1B_000040 1/12990 1/8590 0/4400
?/? c.540G>A r.(=) p.(=) g.66043643G>A Copied from the Exome Variant Server RAB1B_000041 1/12990 0/8590 1/4400
?/? c.543C>T r.(=) p.(=) g.66043646C>T Copied from the Exome Variant Server RAB1B_000042 1/12990 0/8590 1/4400
?/? c.564C>G r.(?) p.(Ile188Met) g.66043667C>G Copied from the Exome Variant Server RAB1B_000043 1/12990 1/8590 0/4400
?/? c.585G>A r.(=) p.(=) g.66043688G>A Copied from the Exome Variant Server RAB1B_000044 1/12982 1/8584 0/4398
?/? c.591C>T r.(=) p.(=) g.66043694C>T Copied from the Exome Variant Server RAB1B_000045 1/12978 1/8582 0/4396
?/? c.*10A>G r.(=) p.(=) g.66043719A>G Copied from the Exome Variant Server RAB1B_000046 7/12956 7/8566 0/4390
?/? c.*18G>A r.(=) p.(=) g.66043727G>A Copied from the Exome Variant Server RAB1B_000047 1/12936 1/8546 0/4390
?/? c.*34_*36del r.(=) p.(=) g.66043743_66043745del Copied from the Exome Variant Server RAB1B_000048 1997/12334 1338/8134 659/4200
?/? c.*35_*37del r.(=) p.(=) g.66043744_66043746del Copied from the Exome Variant Server RAB1B_000049 2001/12350 1341/8142 660/4208
?/? c.*40C>T r.(=) p.(=) g.66043749C>T Copied from the Exome Variant Server RAB1B_000050 1/12830 0/8476 1/4354
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