Full data view for gene FHIT

Information The variants shown are described using the NM_002012.2 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
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.-110-90761T>C r.(=) p.(=) g.60898466A>G Copied from the Exome Variant Server FHIT_000076 3/5734 0/3982 3/1752 - - - - - - -
?/? c.-110-90760A>G r.(=) p.(=) g.60898465T>C Copied from the Exome Variant Server FHIT_000075 1/5734 1/3982 0/1752 - - - - - - -
?/? c.-110-90748A>G r.(=) p.(=) g.60898453T>C Copied from the Exome Variant Server FHIT_000074 1/5734 1/3982 0/1752 - - - - - - -
?/? c.-110-90742T>C r.(=) p.(=) g.60898447A>G Copied from the Exome Variant Server FHIT_000073 1/5734 1/3982 0/1752 - - - - - - -
?/? c.-110-90729A>G r.(=) p.(=) g.60898434T>C Copied from the Exome Variant Server FHIT_000072 1808/5734 1577/3982 231/1752 - - - - - - -
?/? c.-110-90718G>A r.(=) p.(=) g.60898423C>T Copied from the Exome Variant Server FHIT_000071 23/5734 0/3982 23/1752 - - - - - - -
?/? c.-17-22T>C r.(=) p.(=) g.60522734A>G Copied from the Exome Variant Server FHIT_000070 5/13006 5/8600 0/4406 - - - - - - -
?/? c.-16C>G r.(=) p.(=) g.60522711G>C Copied from the Exome Variant Server FHIT_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-3G>C r.(=) p.(=) g.60522698C>G Copied from the Exome Variant Server FHIT_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.6G>A r.(=) p.(=) g.60522690C>T Copied from the Exome Variant Server FHIT_000067 13/13006 0/8600 13/4406 - - - - - - -
?/? c.25C>G r.(?) p.(Leu9Val) g.60522671G>C Copied from the Exome Variant Server FHIT_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.30C>G r.(?) p.(Ile10Met) g.60522666G>C Copied from the Exome Variant Server FHIT_000065 2/13006 2/8600 0/4406 - - - - - - -
?/? c.38C>A r.(?) p.(Ser13Tyr) g.60522658G>T Copied from the Exome Variant Server FHIT_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.44T>C r.(?) p.(Val15Ala) g.60522652A>G Copied from the Exome Variant Server FHIT_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.56C>T r.(?) p.(Thr19Ile) g.60522640G>A Copied from the Exome Variant Server FHIT_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.70G>A r.(?) p.(Ala24Thr) g.60522626C>T Copied from the Exome Variant Server FHIT_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.72T>C r.(=) p.(=) g.60522624A>G Copied from the Exome Variant Server FHIT_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.76G>C r.(?) p.(Val26Leu) g.60522620C>G Copied from the Exome Variant Server FHIT_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.97C>A r.(?) p.(Pro33Thr) g.60522599G>T Copied from the Exome Variant Server FHIT_000058 11/13006 0/8600 11/4406 - - - - - - -
?/? c.103+26A>T r.(=) p.(=) g.60522567T>A Copied from the Exome Variant Server FHIT_000057 2/13006 1/8600 1/4406 - - - - - - -
?/? c.103+48G>C r.(=) p.(=) g.60522545C>G Copied from the Exome Variant Server FHIT_000056 12/13006 0/8600 12/4406 - - - - - - -
?/? c.104-51A>G r.(=) p.(=) g.59999929T>C Copied from the Exome Variant Server FHIT_000055 2/13006 0/8600 2/4406 - - - - - - -
?/? c.104-24G>T r.(=) p.(=) g.59999902C>A Copied from the Exome Variant Server FHIT_000054 34/13006 31/8600 3/4406 - - - - - - -
?/? c.104-9T>G r.(=) p.(=) g.59999887A>C Copied from the Exome Variant Server FHIT_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.119C>T r.(?) p.(Pro40Leu) g.59999863G>A Copied from the Exome Variant Server FHIT_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.136C>T r.(?) p.(Arg46Cys) g.59999846G>A Copied from the Exome Variant Server FHIT_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.153T>C r.(=) p.(=) g.59999829A>G Copied from the Exome Variant Server FHIT_000050 2/13006 0/8600 2/4406 - - - - - - -
?/? c.162A>G r.(=) p.(=) g.59999820T>C Copied from the Exome Variant Server FHIT_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.169G>A r.(?) p.(Asp57Asn) g.59999813C>T Copied from the Exome Variant Server FHIT_000048 3/13006 0/8600 3/4406 - - - - - - -
?/? c.183G>A r.(=) p.(=) g.59999799C>T Copied from the Exome Variant Server FHIT_000047 148/13006 0/8600 148/4406 - - - - - - -
?/? c.188A>G r.(?) p.(Gln63Arg) g.59999794T>C Copied from the Exome Variant Server FHIT_000046 13/13006 0/8600 13/4406 - - - - - - -
?/? c.195C>T r.(=) p.(=) g.59999787G>A Copied from the Exome Variant Server FHIT_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.249+1G>A r.spl? p.? g.59999732C>T Copied from the Exome Variant Server FHIT_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.249+12G>A r.(=) p.(=) g.59999721C>T Copied from the Exome Variant Server FHIT_000040 9/13006 9/8600 0/4406 - - - - - - -
?/? c.249+13A>G r.(=) p.(=) g.59999720T>C Copied from the Exome Variant Server FHIT_000038 8/13006 0/8600 8/4406 - - - - - - -
?/? c.249+43A>G r.(=) p.(=) g.59999690T>C Copied from the Exome Variant Server FHIT_000036 4605/13006 3922/8600 683/4406 - - - - - - -
?/? c.249+49C>A r.(=) p.(=) g.59999684G>T Copied from the Exome Variant Server FHIT_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.249+50G>A r.(=) p.(=) g.59999683C>T Copied from the Exome Variant Server FHIT_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.250-84A>G r.(=) p.(=) g.59997210T>C Copied from the Exome Variant Server FHIT_000041 6/4566 0/3182 6/1384 - - - - - - -
?/? c.250-67T>C r.(=) p.(=) g.59997193A>G Copied from the Exome Variant Server FHIT_000039 1/4566 0/3182 1/1384 - - - - - - -
?/? c.250-65T>C r.(=) p.(=) g.59997191A>G Copied from the Exome Variant Server FHIT_000037 1/4566 1/3182 0/1384 - - - - - - -
?/? c.250-46T>C r.(=) p.(=) g.59997172A>G Copied from the Exome Variant Server FHIT_000035 25/13006 0/8600 25/4406 - - - - - - -
?/? c.250-31C>A r.(=) p.(=) g.59997157G>T Copied from the Exome Variant Server FHIT_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.250-24C>T r.(=) p.(=) g.59997150G>A Copied from the Exome Variant Server FHIT_000033 3/13006 3/8600 0/4406 - - - - - - -
?/? c.250-18G>A r.(=) p.(=) g.59997144C>T Copied from the Exome Variant Server FHIT_000032 6/13006 5/8600 1/4406 - - - - - - -
?/? c.250-4C>G r.spl? p.? g.59997130G>C Copied from the Exome Variant Server FHIT_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.258_259insC r.(?) p.(Glu87Argfs*25) g.59997117_59997118insG Copied from the Exome Variant Server FHIT_000030 1/12520 1/8254 0/4266 - - - - - - -
?/? c.264C>T r.(=) p.(=) g.59997112G>A Copied from the Exome Variant Server FHIT_000029 1708/13006 1371/8600 337/4406 - - - - - - -
?/? c.265G>A r.(?) p.(Gly89Arg) g.59997111C>T Copied from the Exome Variant Server FHIT_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.279+67C>T r.(=) p.(=) g.59997030G>A Copied from the Exome Variant Server FHIT_000027 9/4566 1/3182 8/1384 - - - - - - -
?/? c.279+72C>T r.(=) p.(=) g.59997025G>A Copied from the Exome Variant Server FHIT_000026 40/4566 1/3182 39/1384 - - - - - - -
?/? c.280-61G>A r.(=) p.(=) g.59908201C>T Copied from the Exome Variant Server FHIT_000025 1/4566 1/3182 0/1384 - - - - - - -
?/? c.280-15C>T r.(=) p.(=) g.59908155G>A Copied from the Exome Variant Server FHIT_000024 2/13006 0/8600 2/4406 - - - - - - -
?/? c.280-14T>C r.(=) p.(=) g.59908154A>G Copied from the Exome Variant Server FHIT_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.280-10A>G r.(=) p.(=) g.59908150T>C Copied from the Exome Variant Server FHIT_000022 16/13006 15/8600 1/4406 - - - - - - -
?/? c.288C>T r.(=) p.(=) g.59908132G>A Copied from the Exome Variant Server FHIT_000021 2/13006 0/8600 2/4406 - - - - - - -
?/? c.289G>T r.(?) p.(Val97Phe) g.59908131C>A Copied from the Exome Variant Server FHIT_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.294T>C r.(=) p.(=) g.59908126A>G Copied from the Exome Variant Server FHIT_000019 2173/13006 1779/8600 394/4406 - - - - - - -
?/? c.341A>T r.(?) p.(Tyr114Phe) g.59908079T>A Copied from the Exome Variant Server FHIT_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.348+20T>C r.(=) p.(=) g.59908052A>G Copied from the Exome Variant Server FHIT_000017 12/13006 11/8600 1/4406 - - - - - - -
?/? c.348+50G>A r.(=) p.(=) g.59908022C>T Copied from the Exome Variant Server FHIT_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.349-17T>A r.(=) p.(=) g.59738064A>T Copied from the Exome Variant Server FHIT_000015 2523/13006 1220/8600 1303/4406 - - - - - - -
?/? c.369_371del r.(?) p.(Glu123del) g.59738025_59738027del Copied from the Exome Variant Server FHIT_000014 1/12520 0/8254 1/4266 - - - - - - -
?/? c.397G>A r.(?) p.(Glu133Lys) g.59737999C>T Copied from the Exome Variant Server FHIT_000013 3/13006 3/8600 0/4406 - - - - - - -
?/? c.416C>T r.(?) p.(Ala139Val) g.59737980G>A Copied from the Exome Variant Server FHIT_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.417C>T r.(=) p.(=) g.59737979G>A Copied from the Exome Variant Server FHIT_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.419C>T r.(?) p.(Ala140Val) g.59737977G>A Copied from the Exome Variant Server FHIT_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.421G>T r.(?) p.(Ala141Ser) g.59737975C>A Copied from the Exome Variant Server FHIT_000009 2/13006 2/8600 0/4406 - - - - - - -
?/? c.426G>A r.(=) p.(=) g.59737970C>T Copied from the Exome Variant Server FHIT_000008 2/13006 0/8600 2/4406 - - - - - - -
?/? c.427C>T r.(?) p.(Arg143Trp) g.59737969G>A Copied from the Exome Variant Server FHIT_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.428G>A r.(?) p.(Arg143Gln) g.59737968C>T Copied from the Exome Variant Server FHIT_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*2A>G r.(=) p.(=) g.59737950T>C Copied from the Exome Variant Server FHIT_000005 123/13006 0/8600 123/4406 - - - - - - -
?/? c.*5+13T>C r.(=) p.(=) g.59737934A>G Copied from the Exome Variant Server FHIT_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*5+24C>T r.(=) p.(=) g.59737923G>A Copied from the Exome Variant Server FHIT_000003 5/13006 0/8600 5/4406 - - - - - - -
?/? c.*5+29A>G r.(=) p.(=) g.59737918T>C Copied from the Exome Variant Server FHIT_000002 22/13006 0/8600 22/4406 - - - - - - -
?/? c.*5+36C>T r.(=) p.(=) g.59737911G>A Copied from the Exome Variant Server FHIT_000001 6/13006 0/8600 6/4406 - - - - - - -
Legend