Full data view for gene POF1B

Information The variants shown are described using the NM_024921.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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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.-41-3T>C r.(=) p.(=) g.84634503A>G Copied from the Exome Variant Server POF1B_000084 1/10558 0/6725 1/3833 - - - - - - -
?/? c.85C>A r.(?) p.(His29Asn) g.84634375G>T Copied from the Exome Variant Server POF1B_000083 6/10563 6/6728 0/3835 - - - - - - -
?/? c.113A>C r.(?) p.(Gln38Pro) g.84634347T>G Copied from the Exome Variant Server POF1B_000082 109/10563 0/6728 109/3835 - - - - - - -
?/? c.150G>C r.(?) p.(Glu50Asp) g.84634310C>G Copied from the Exome Variant Server POF1B_000081 1/10563 1/6728 0/3835 - - - - - - -
?/? c.157A>G r.(?) p.(Arg53Gly) g.84634303T>C Copied from the Exome Variant Server POF1B_000080 1/10563 0/6728 1/3835 - - - - - - -
?/? c.191A>G r.(?) p.(Gln64Arg) g.84634269T>C Copied from the Exome Variant Server POF1B_000079 31/10563 0/6728 31/3835 - - - - - - -
?/? c.290A>G r.(?) p.(His97Arg) g.84622764T>C Copied from the Exome Variant Server POF1B_000078 1/10561 0/6726 1/3835 - - - - - - -
?/? c.313A>G r.(?) p.(Thr105Ala) g.84622741T>C Copied from the Exome Variant Server POF1B_000077 1/10561 1/6726 0/3835 - - - - - - -
?/? c.337A>G r.(?) p.(Ile113Val) g.84622717T>C Copied from the Exome Variant Server POF1B_000076 2/10562 0/6727 2/3835 - - - - - - -
?/? c.357+15G>A r.(=) p.(=) g.84622682C>T Copied from the Exome Variant Server POF1B_000075 4/10563 0/6728 4/3835 - - - - - - -
?/? c.357+26G>T r.(=) p.(=) g.84622671C>A Copied from the Exome Variant Server POF1B_000074 15/10563 14/6728 1/3835 - - - - - - -
?/? c.358-15G>T r.(=) p.(=) g.84614650C>A Copied from the Exome Variant Server POF1B_000073 2/10561 2/6726 0/3835 - - - - - - -
?/? c.438+31T>A r.(=) p.(=) g.84614524A>T Copied from the Exome Variant Server POF1B_000072 4/10563 4/6728 0/3835 - - - - - - -
?/? c.438+61G>T r.(=) p.(=) g.84614494C>A Copied from the Exome Variant Server POF1B_000071 1/3598 1/2389 0/1209 - - - - - - -
?/? c.439-41A>T r.(=) p.(=) g.84606498T>A Copied from the Exome Variant Server POF1B_000070 2/10518 0/6707 2/3811 - - - - - - -
?/? c.439-20A>G r.(=) p.(=) g.84606477T>C Copied from the Exome Variant Server POF1B_000069 1/10526 0/6703 1/3823 - - - - - - -
?/? c.450T>A r.(=) p.(=) g.84606446A>T Copied from the Exome Variant Server POF1B_000068 12/10551 0/6716 12/3835 - - - - - - -
?/? c.499G>T r.(?) p.(Glu167*) g.84606397C>A Copied from the Exome Variant Server POF1B_000067 2/10554 2/6720 0/3834 - - - - - - -
?/? c.540+9T>C r.(=) p.(=) g.84606347A>G Copied from the Exome Variant Server POF1B_000066 2/10547 0/6718 2/3829 - - - - - - -
?/? c.541-47del r.(=) p.(=) g.84601095del Copied from the Exome Variant Server POF1B_000065 49/10200 48/6482 1/3718 - - - - - - -
?/? c.551C>T r.(?) p.(Pro184Leu) g.84601038G>A Copied from the Exome Variant Server POF1B_000064 1/10562 1/6728 0/3834 - - - - - - -
?/? c.567T>A r.(?) p.(His189Gln) g.84601022A>T Copied from the Exome Variant Server POF1B_000063 1/10562 0/6728 1/3834 - - - - - - -
?/? c.600C>T r.(=) p.(=) g.84600989G>A Copied from the Exome Variant Server POF1B_000062 1/10563 0/6728 1/3835 - - - - - - -
?/? c.619C>T r.(?) p.(Pro207Ser) g.84600970G>A Copied from the Exome Variant Server POF1B_000061 183/10563 1/6728 182/3835 - - - - - - -
?/? c.641A>G r.(?) p.(Gln214Arg) g.84600948T>C Copied from the Exome Variant Server POF1B_000060 464/10563 2/6728 462/3835 - - - - - - -
?/? c.650C>T r.(?) p.(Thr217Ile) g.84600939G>A Copied from the Exome Variant Server POF1B_000059 2/10563 0/6728 2/3835 - - - - - - -
?/? c.716G>C r.(?) p.(Cys239Ser) g.84600873C>G Copied from the Exome Variant Server POF1B_000058 93/10563 83/6728 10/3835 - - - - - - -
?/? c.723+15C>G r.(=) p.(=) g.84600851G>C Copied from the Exome Variant Server POF1B_000057 2/10563 0/6728 2/3835 - - - - - - -
?/? c.748G>A r.(?) p.(Glu250Lys) g.84586061C>T Copied from the Exome Variant Server POF1B_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.796C>T r.(?) p.(Arg266Cys) g.84586013G>A Copied from the Exome Variant Server POF1B_000055 1/10563 0/6728 1/3835 - - - - - - -
?/? c.807G>A r.(=) p.(=) g.84586002C>T Copied from the Exome Variant Server POF1B_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.854+51C>T r.(=) p.(=) g.84585904G>A Copied from the Exome Variant Server POF1B_000053 1/10558 1/6727 0/3831 - - - - - - -
?/? c.855-46G>A r.(=) p.(=) g.84570786C>T Copied from the Exome Variant Server POF1B_000052 163/10531 150/6702 13/3829 - - - - - - -
?/? c.855-16T>C r.(=) p.(=) g.84570756A>G Copied from the Exome Variant Server POF1B_000051 1/10535 0/6704 1/3831 - - - - - - -
?/? c.855-9T>C r.(=) p.(=) g.84570749A>G Copied from the Exome Variant Server POF1B_000050 1/10536 0/6703 1/3833 - - - - - - -
?/? c.883-27C>T r.(=) p.(=) g.84569539G>A Copied from the Exome Variant Server POF1B_000049 1/10557 1/6724 0/3833 - - - - - - -
?/? c.883-24T>A r.(=) p.(=) g.84569536A>T Copied from the Exome Variant Server POF1B_000048 4/10558 4/6725 0/3833 - - - - - - -
?/? c.885G>A r.(=) p.(=) g.84569510C>T Copied from the Exome Variant Server POF1B_000047 12/10561 10/6726 2/3835 - - - - - - -
?/? c.893T>C r.(?) p.(Ile298Thr) g.84569502A>G Copied from the Exome Variant Server POF1B_000046 4/10561 1/6726 3/3835 - - - - - - -
?/? c.913G>C r.(?) p.(Gly305Arg) g.84569482C>G Copied from the Exome Variant Server POF1B_000045 1/10561 0/6726 1/3835 - - - - - - -
?/? c.943C>T r.(?) p.(Arg315Cys) g.84569452G>A Copied from the Exome Variant Server POF1B_000044 7/10559 7/6724 0/3835 - - - - - - -
?/? c.957+9G>C r.(=) p.(=) g.84569429C>G Copied from the Exome Variant Server POF1B_000043 1/10561 0/6726 1/3835 - - - - - - -
?/? c.957+15A>G r.(=) p.(=) g.84569423T>C Copied from the Exome Variant Server POF1B_000042 1/10561 0/6726 1/3835 - - - - - - -
?/? c.957+21G>A r.(=) p.(=) g.84569417C>T Copied from the Exome Variant Server POF1B_000041 1/10561 1/6726 0/3835 - - - - - - -
?/? c.958-34A>T r.(=) p.(=) g.84563256T>A Copied from the Exome Variant Server POF1B_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.960G>A r.(?) p.(Met320Ile) g.84563220C>T Copied from the Exome Variant Server POF1B_000039 3/10563 3/6728 0/3835 - - - - - - -
?/? c.986G>A r.(?) p.(Arg329Gln) g.84563194C>T Copied from the Exome Variant Server POF1B_000038 43/10563 17/6728 26/3835 - - - - - - -
?/? c.1045A>T r.(?) p.(Met349Leu) g.84563135T>A Copied from the Exome Variant Server POF1B_000037 8773/10563 5196/6728 3577/3835 - - - - - - -
?/? c.1050+38T>C r.(=) p.(=) g.84563092A>G Copied from the Exome Variant Server POF1B_000036 1/10561 1/6727 0/3834 - - - - - - -
?/? c.1115A>G r.(?) p.(Glu372Gly) g.84562218T>C Copied from the Exome Variant Server POF1B_000035 1/10559 1/6726 0/3833 - - - - - - -
?/? c.1118A>G r.(?) p.(Tyr373Cys) g.84562215T>C Copied from the Exome Variant Server POF1B_000034 1/10559 1/6726 0/3833 - - - - - - -
?/? c.1120G>A r.(?) p.(Glu374Lys) g.84562213C>T Copied from the Exome Variant Server POF1B_000033 1/10559 0/6726 1/3833 - - - - - - -
?/? c.1162C>A r.(?) p.(Gln388Lys) g.84562171G>T Copied from the Exome Variant Server POF1B_000032 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1164+6C>T r.(=) p.(=) g.84562163G>A Copied from the Exome Variant Server POF1B_000031 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1164+51G>A r.(=) p.(=) g.84562118C>T Copied from the Exome Variant Server POF1B_000030 1025/10549 901/6718 124/3831 - - - - - - -
?/? c.1165-41del r.(=) p.(=) g.84561380del Copied from the Exome Variant Server POF1B_000029 2/10205 2/6484 0/3721 - - - - - - -
?/? c.1165-30T>C r.(=) p.(=) g.84561369A>G Copied from the Exome Variant Server POF1B_000028 12/10563 0/6728 12/3835 - - - - - - -
?/? c.1172T>G r.(?) p.(Leu391Arg) g.84561332A>C Copied from the Exome Variant Server POF1B_000027 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1300C>A r.(?) p.(Gln434Lys) g.84561204G>T Copied from the Exome Variant Server POF1B_000026 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1318-1G>A r.spl? p.? g.84560917C>T Copied from the Exome Variant Server POF1B_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1363G>A r.(?) p.(Glu455Lys) g.84560871C>T Copied from the Exome Variant Server POF1B_000024 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1371C>G r.(=) p.(=) g.84560863G>C Copied from the Exome Variant Server POF1B_000023 54/10563 1/6728 53/3835 - - - - - - -
?/? c.1373A>G r.(?) p.(Asn458Ser) g.84560861T>C Copied from the Exome Variant Server POF1B_000022 10/10563 0/6728 10/3835 - - - - - - -
?/? c.1374C>T r.(=) p.(=) g.84560860G>A Copied from the Exome Variant Server POF1B_000021 262/10563 5/6728 257/3835 - - - - - - -
?/? c.1383G>A r.(=) p.(=) g.84560851C>T Copied from the Exome Variant Server POF1B_000020 11/10563 9/6728 2/3835 - - - - - - -
?/? c.1566+7A>C r.(=) p.(=) g.84559342T>G Copied from the Exome Variant Server POF1B_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1566+10G>A r.(=) p.(=) g.84559339C>T Copied from the Exome Variant Server POF1B_000018 64/10563 0/6728 64/3835 - - - - - - -
?/? c.1566+32G>C r.(=) p.(=) g.84559317C>G Copied from the Exome Variant Server POF1B_000017 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1566+39A>G r.(=) p.(=) g.84559310T>C Copied from the Exome Variant Server POF1B_000016 476/10561 5/6726 471/3835 - - - - - - -
?/? c.1566+48C>T r.(=) p.(=) g.84559301G>A Copied from the Exome Variant Server POF1B_000015 133/10561 1/6726 132/3835 - - - - - - -
?/? c.1572C>G r.(=) p.(=) g.84558489G>C Copied from the Exome Variant Server POF1B_000014 1094/10551 8/6716 1086/3835 - - - - - - -
?/? c.1597T>C r.(?) p.(Ser533Pro) g.84558464A>G Copied from the Exome Variant Server POF1B_000013 1/10557 1/6722 0/3835 - - - - - - -
?/? c.1608C>A r.(?) p.(Asn536Lys) g.84558453G>T Copied from the Exome Variant Server POF1B_000012 1/10557 0/6722 1/3835 - - - - - - -
?/? c.1644T>C r.(=) p.(=) g.84558417A>G Copied from the Exome Variant Server POF1B_000011 6/10547 6/6718 0/3829 - - - - - - -
?/? c.1696G>A r.(?) p.(Glu566Lys) g.84537277C>T Copied from the Exome Variant Server POF1B_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1764+7T>C r.(=) p.(=) g.84537202A>G Copied from the Exome Variant Server POF1B_000009 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1764+36C>T r.(=) p.(=) g.84537173G>A Copied from the Exome Variant Server POF1B_000008 28/10559 1/6727 27/3832 - - - - - - -
?/? c.1764+37G>A r.(=) p.(=) g.84537172C>T Copied from the Exome Variant Server POF1B_000007 7/10558 6/6726 1/3832 - - - - - - -
?/? c.1764+47C>T r.(=) p.(=) g.84537162G>A Copied from the Exome Variant Server POF1B_000006 1/10553 1/6722 0/3831 - - - - - - -
?/? c.1765-76del r.(=) p.(=) g.84534508del Copied from the Exome Variant Server POF1B_000005 2/10010 2/6403 0/3607 - - - - - - -
?/? c.1765-53_1765-51del r.(=) p.(=) g.84534483_84534485del Copied from the Exome Variant Server POF1B_000004 1007/10162 8/6465 999/3697 - - - - - - -
?/? c.*13T>A r.(=) p.(=) g.84534414A>T Copied from the Exome Variant Server POF1B_000003 1/10547 1/6719 0/3828 - - - - - - -
?/? c.*42T>G r.(=) p.(=) g.84534385A>C Copied from the Exome Variant Server POF1B_000002 1/10539 0/6712 1/3827 - - - - - - -
?/? c.*44T>G r.(=) p.(=) g.84534383A>C Copied from the Exome Variant Server POF1B_000001 10479/10541 6696/6712 3783/3829 - - - - - - -
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