All transcript variants in gene NXF5

Information The variants shown are described using the NM_032946.2 transcript reference sequence.

105 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.-49T>C r.(=) p.(=) g.101097813A>G Copied from the Exome Variant Server NXF5_000100 1/10563 1/6728 0/3835
?/? c.51+34A>C r.(=) p.(=) g.101097680T>G Copied from the Exome Variant Server NXF5_000099 1/10563 0/6728 1/3835
?/? c.51+52G>T r.(=) p.(=) g.101097662C>A Copied from the Exome Variant Server NXF5_000097 2/8125 0/5498 2/2627
?/? c.67A>G r.(?) p.(Lys23Glu) g.101096930T>C Copied from the Exome Variant Server NXF5_000095 231/10563 218/6728 13/3835
?/? c.74A>G r.(?) p.(Asp25Gly) g.101096923T>C Copied from the Exome Variant Server NXF5_000093 1/10563 1/6728 0/3835
?/? c.128C>T r.(?) p.(Pro43Leu) g.101096869G>A Copied from the Exome Variant Server NXF5_000105 3/10563 3/6728 0/3835
?/? c.135+20C>T r.(=) p.(=) g.101096842G>A Copied from the Exome Variant Server NXF5_000104 1/10563 1/6728 0/3835
?/? c.135+26G>A r.(=) p.(=) g.101096836C>T Copied from the Exome Variant Server NXF5_000103 1/10563 0/6728 1/3835
?/? c.135+48G>A r.(=) p.(=) g.101096814C>T Copied from the Exome Variant Server NXF5_000102 14/10563 11/6728 3/3835
?/? c.136-46G>A r.(=) p.(=) g.101096796C>T Copied from the Exome Variant Server NXF5_000101 2/10563 2/6728 0/3835
?/? c.136-29G>A r.(=) p.(=) g.101096779C>T Copied from the Exome Variant Server NXF5_000098 2/10563 0/6728 2/3835
?/? c.141C>G r.(?) p.(His47Gln) g.101096745G>C Copied from the Exome Variant Server NXF5_000096 1/10563 1/6728 0/3835
?/? c.145A>G r.(?) p.(Ile49Val) g.101096741T>C Copied from the Exome Variant Server NXF5_000094 13/10563 0/6728 13/3835
?/? c.147C>G r.(?) p.(Ile49Met) g.101096739G>C Copied from the Exome Variant Server NXF5_000092 1/10563 1/6728 0/3835
?/? c.162C>A r.(?) p.(Cys54*) g.101096724G>T Copied from the Exome Variant Server NXF5_000091 1/10563 0/6728 1/3835
?/? c.166T>C r.(?) p.(Phe56Leu) g.101096720A>G Copied from the Exome Variant Server NXF5_000090 11/10563 0/6728 11/3835
?/? c.179C>G r.(?) p.(Ala60Gly) g.101096707G>C Copied from the Exome Variant Server NXF5_000089 1/10563 1/6728 0/3835
?/? c.209G>T r.(?) p.(Ser70Ile) g.101096677C>A Copied from the Exome Variant Server NXF5_000088 1/10563 0/6728 1/3835
?/? c.240G>A r.(=) p.(=) g.101096646C>T Copied from the Exome Variant Server NXF5_000087 1/10563 1/6728 0/3835
?/? c.240+18T>G r.(=) p.(=) g.101096628A>C Copied from the Exome Variant Server NXF5_000086 1/10563 0/6728 1/3835
?/? c.240+34T>C r.(=) p.(=) g.101096612A>G Copied from the Exome Variant Server NXF5_000085 2/10563 1/6728 1/3835
?/? c.241-40G>A r.(=) p.(=) g.101096570C>T Copied from the Exome Variant Server NXF5_000084 2/10563 0/6728 2/3835
?/? c.241-18C>A r.(=) p.(=) g.101096548G>T Copied from the Exome Variant Server NXF5_000083 56/10563 0/6728 56/3835
?/? c.257del r.(?) p.(Ser86Ilefs*9) g.101096514del Copied from the Exome Variant Server NXF5_000082 1/10197 1/6482 0/3715
?/? c.259C>G r.(?) p.(His87Asp) g.101096512G>C Copied from the Exome Variant Server NXF5_000081 1/10563 1/6728 0/3835
?/? c.281_282del r.(?) p.(Val94Glufs*3) g.101096489_101096490del Copied from the Exome Variant Server NXF5_000080 1/10197 0/6482 1/3715
?/? c.287A>G r.(?) p.(Asn96Ser) g.101096484T>C Copied from the Exome Variant Server NXF5_000079 13/10563 0/6728 13/3835
?/? c.303C>G r.(=) p.(=) g.101096468G>C Copied from the Exome Variant Server NXF5_000078 1/10563 0/6728 1/3835
?/? c.321+26A>T r.(=) p.(=) g.101096424T>A Copied from the Exome Variant Server NXF5_000077 13/10558 0/6723 13/3835
?/? c.321+47C>T r.(=) p.(=) g.101096403G>A Copied from the Exome Variant Server NXF5_000076 1/10558 1/6723 0/3835
?/? c.321+51T>A r.(=) p.(=) g.101096399A>T Copied from the Exome Variant Server NXF5_000075 1/10558 1/6723 0/3835
?/? c.322-53_322-51del r.(=) p.(=) g.101096353_101096355del Copied from the Exome Variant Server NXF5_000073 338/10196 240/6481 98/3715
?/? c.322-53_322-51dup r.(=) p.(=) g.101096353_101096355dup Copied from the Exome Variant Server NXF5_000074 6/10196 5/6481 1/3715
?/? c.322-53_322-45del r.(=) p.(=) g.101096347_101096355del Copied from the Exome Variant Server NXF5_000072 1/10196 1/6481 0/3715
?/? c.322-30G>A r.(=) p.(=) g.101096332C>T Copied from the Exome Variant Server NXF5_000071 2/10563 2/6728 0/3835
?/? c.327C>T r.(=) p.(=) g.101096297G>A Copied from the Exome Variant Server NXF5_000070 2/10550 0/6717 2/3833
?/? c.337C>T r.(?) p.(Arg113Trp) g.101096287G>A Copied from the Exome Variant Server NXF5_000069 2/10505 1/6674 1/3831
?/? c.379C>T r.(?) p.(Arg127Cys) g.101096245G>A Copied from the Exome Variant Server NXF5_000068 1/10365 0/6611 1/3754
?/? c.391+14C>T r.(=) p.(=) g.101096219G>A Copied from the Exome Variant Server NXF5_000067 1887/9891 1211/6431 676/3460
?/? c.391+32C>T r.(=) p.(=) g.101096201G>A Copied from the Exome Variant Server NXF5_000066 12/9478 1/6250 11/3228
?/? c.415A>G r.(?) p.(Ile139Val) g.101096053T>C Copied from the Exome Variant Server NXF5_000065 1/10540 1/6716 0/3824
?/? c.451C>A r.(?) p.(Leu151Met) g.101096017G>T Copied from the Exome Variant Server NXF5_000064 1/10555 0/6724 1/3831
?/? c.480+31G>T r.(=) p.(=) g.101095957C>A Copied from the Exome Variant Server NXF5_000063 1/7727 0/5062 1/2665
?/? c.481-28C>T r.(=) p.(=) g.101095895G>A Copied from the Exome Variant Server NXF5_000062 415/7670 379/5019 36/2651
?/? c.499T>C r.(?) p.(Cys167Arg) g.101095849A>G Copied from the Exome Variant Server NXF5_000061 13/10557 0/6726 13/3831
?/? c.501C>T r.(=) p.(=) g.101095847G>A Copied from the Exome Variant Server NXF5_000060 1/10557 0/6726 1/3831
?/? c.552T>C r.(=) p.(=) g.101095796A>G Copied from the Exome Variant Server NXF5_000059 3/10550 0/6717 3/3833
?/? c.553C>A r.(?) p.(Pro185Thr) g.101095795G>T Copied from the Exome Variant Server NXF5_000058 2/10550 2/6717 0/3833
?/? c.595T>G r.(?) p.(Ser199Ala) g.101095574A>C Copied from the Exome Variant Server NXF5_000057 56/9817 0/6266 56/3551
?/? c.600G>A r.(=) p.(=) g.101095569C>T Copied from the Exome Variant Server NXF5_000056 2/9969 1/6351 1/3618
?/? c.640C>A r.(?) p.(Leu214Ile) g.101095529G>T Copied from the Exome Variant Server NXF5_000055 64/10298 0/6573 64/3725
?/? c.687T>C r.(=) p.(=) g.101095482A>G Copied from the Exome Variant Server NXF5_000054 829/10318 513/6573 316/3745
?/? c.698+8G>A r.(=) p.(=) g.101095463C>T Copied from the Exome Variant Server NXF5_000053 4/10312 4/6570 0/3742
?/? c.698+47G>A r.(=) p.(=) g.101095424C>T Copied from the Exome Variant Server NXF5_000052 1/10027 0/6386 1/3641
?/? c.699-37del r.(=) p.(=) g.101093835del Copied from the Exome Variant Server NXF5_000051 3/3790 0/2456 3/1334
?/? c.736-15T>C r.(=) p.(=) g.101093397A>G Copied from the Exome Variant Server NXF5_000050 13/10559 0/6724 13/3835
?/? c.739G>A r.(?) p.(Gly247Ser) g.101093379C>T Copied from the Exome Variant Server NXF5_000049 2/10550 0/6717 2/3833
?/? c.743G>A r.(?) p.(Arg248Gln) g.101093375C>T Copied from the Exome Variant Server NXF5_000048 560/10215 25/6514 535/3701
?/? c.860+50_860+51insC r.(=) p.(=) g.101093121_101093122insG Copied from the Exome Variant Server NXF5_000047 860/1181 596/800 264/381
?/? c.860+51_860+52insG r.(=) p.(=) g.101093120_101093121insC Copied from the Exome Variant Server NXF5_000046 63/1769 45/1163 18/606
?/? c.861-26C>T r.(=) p.(=) g.101092838G>A Copied from the Exome Variant Server NXF5_000045 1/10563 0/6728 1/3835
?/? c.883A>C r.(?) p.(Lys295Gln) g.101092790T>G Copied from the Exome Variant Server NXF5_000044 1/10563 1/6728 0/3835
?/? c.909C>G r.(=) p.(=) g.101092764G>C Copied from the Exome Variant Server NXF5_000043 3/10563 0/6728 3/3835
?/? c.919T>C r.(?) p.(Tyr307His) g.101092754A>G Copied from the Exome Variant Server NXF5_000042 1/10563 1/6728 0/3835
?/? c.919+37G>A r.(=) p.(=) g.101092717C>T Copied from the Exome Variant Server NXF5_000041 1/10563 1/6728 0/3835
?/? c.919+43G>A r.(=) p.(=) g.101092711C>T Copied from the Exome Variant Server NXF5_000040 1/10563 1/6728 0/3835
?/? c.920-45G>A r.(=) p.(=) g.101092671C>T Copied from the Exome Variant Server NXF5_000039 2/10563 0/6728 2/3835
?/? c.920-19C>T r.(=) p.(=) g.101092645G>A Copied from the Exome Variant Server NXF5_000038 1/10563 1/6728 0/3835
?/? c.921C>T r.(=) p.(=) g.101092625G>A Copied from the Exome Variant Server NXF5_000037 1/10563 1/6728 0/3835
?/? c.945C>A r.(?) p.(His315Gln) g.101092601G>T Copied from the Exome Variant Server NXF5_000036 1/10563 1/6728 0/3835
?/? c.958C>T r.(?) p.(Arg320*) g.101092588G>A Copied from the Exome Variant Server NXF5_000035 33/10563 1/6728 32/3835
?/? c.959G>A r.(?) p.(Arg320Gln) g.101092587C>T Copied from the Exome Variant Server NXF5_000034 15/10563 0/6728 15/3835
?/? c.963C>G r.(?) p.(Asn321Lys) g.101092583G>C Copied from the Exome Variant Server NXF5_000033 2/10563 0/6728 2/3835
?/? c.964G>A r.(?) p.(Val322Met) g.101092582C>T Copied from the Exome Variant Server NXF5_000032 1/10563 1/6728 0/3835
?/? c.998A>G r.(?) p.(His333Arg) g.101092548T>C Copied from the Exome Variant Server NXF5_000031 3/10563 0/6728 3/3835
?/? c.1035G>T r.(?) p.(Gln345His) g.101092511C>A Copied from the Exome Variant Server NXF5_000030 3/10563 3/6728 0/3835
?/? c.1038C>T r.(=) p.(=) g.101092508G>A Copied from the Exome Variant Server NXF5_000029 39/10563 0/6728 39/3835
?/? c.1060C>T r.(?) p.(Arg354Trp) g.101092486G>A Copied from the Exome Variant Server NXF5_000028 204/10563 2/6728 202/3835
?/? c.1068C>T r.(=) p.(=) g.101092478G>A Copied from the Exome Variant Server NXF5_000027 1/10563 1/6728 0/3835
?/? c.1082+30C>T r.(=) p.(=) g.101092434G>A Copied from the Exome Variant Server NXF5_000026 1/10559 1/6724 0/3835
?/? c.1082+39G>A r.(=) p.(=) g.101092425C>T Copied from the Exome Variant Server NXF5_000025 9/10563 0/6728 9/3835
?/? c.1082+60G>A r.(=) p.(=) g.101092404C>T Copied from the Exome Variant Server NXF5_000024 18/3600 0/2391 18/1209
?/? c.1082+671T>C r.(=) p.(=) g.101091793A>G Copied from the Exome Variant Server NXF5_000023 7/10563 7/6728 0/3835
?/? c.1082+695G>A r.(=) p.(=) g.101091769C>T Copied from the Exome Variant Server NXF5_000022 1/10563 0/6728 1/3835
?/? c.1082+713T>C r.(=) p.(=) g.101091751A>G Copied from the Exome Variant Server NXF5_000021 1/10563 1/6728 0/3835
?/? c.1082+729C>T r.(=) p.(=) g.101091735G>A Copied from the Exome Variant Server NXF5_000020 1/10563 1/6728 0/3835
?/? c.1082+741C>T r.(=) p.(=) g.101091723G>A Copied from the Exome Variant Server NXF5_000019 1/10563 1/6728 0/3835
?/? c.1082+748C>T r.(=) p.(=) g.101091716G>A Copied from the Exome Variant Server NXF5_000018 4/10563 3/6728 1/3835
?/? c.1082+749G>A r.(=) p.(=) g.101091715C>T Copied from the Exome Variant Server NXF5_000017 1/10563 1/6728 0/3835
?/? c.1082+803T>A r.(=) p.(=) g.101091661A>T Copied from the Exome Variant Server NXF5_000016 1/10563 0/6728 1/3835
?/? c.1082+1202C>T r.(=) p.(=) g.101091262G>A Copied from the Exome Variant Server NXF5_000015 1/3600 0/2391 1/1209
?/? c.1082+1244A>G r.(=) p.(=) g.101091220T>C Copied from the Exome Variant Server NXF5_000014 1/10563 1/6728 0/3835
?/? c.1082+1253C>A r.(=) p.(=) g.101091211G>T Copied from the Exome Variant Server NXF5_000013 1/10563 0/6728 1/3835
?/? c.1082+1265G>C r.(=) p.(=) g.101091199C>G Copied from the Exome Variant Server NXF5_000012 1/10563 1/6728 0/3835
?/? c.1082+1276G>C r.(=) p.(=) g.101091188C>G Copied from the Exome Variant Server NXF5_000011 5/10563 5/6728 0/3835
?/? c.1082+1298T>A r.(=) p.(=) g.101091166A>T Copied from the Exome Variant Server NXF5_000010 1/10563 1/6728 0/3835
?/? c.1082+1300A>G r.(=) p.(=) g.101091164T>C Copied from the Exome Variant Server NXF5_000009 2093/10563 1295/6728 798/3835
?/? c.1082+1318C>G r.(=) p.(=) g.101091146G>C Copied from the Exome Variant Server NXF5_000008 1/10563 1/6728 0/3835
?/? c.1082+1349G>C r.(=) p.(=) g.101091115C>G Copied from the Exome Variant Server NXF5_000007 1/10563 0/6728 1/3835
?/? c.1082+1380C>T r.(=) p.(=) g.101091084G>A Copied from the Exome Variant Server NXF5_000006 1/3600 0/2391 1/1209
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