Full data view for gene FANCB

Information The variants shown are described using the NM_152633.2 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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.7A>G r.(?) p.(Ser3Gly) g.14883626T>C Copied from the Exome Variant Server FANCB_000074 1/10523 1/6699 0/3824 - - - - - - -
?/? c.31G>A r.(?) p.(Glu11Lys) g.14883602C>T Copied from the Exome Variant Server FANCB_000073 1/10540 0/6709 1/3831 - - - - - - -
?/? c.69T>C r.(=) p.(=) g.14883564A>G Copied from the Exome Variant Server FANCB_000070 11/10552 8/6718 3/3834 - - - - - - -
?/? c.262G>A r.(?) p.(Gly88Arg) g.14883371C>T Copied from the Exome Variant Server FANCB_000078 3/10545 0/6720 3/3825 - - - - - - -
?/? c.330A>C r.(=) p.(=) g.14883303T>G Copied from the Exome Variant Server FANCB_000077 1/10553 1/6718 0/3835 - - - - - - -
?/? c.361C>T r.(?) p.(Arg121Cys) g.14883272G>A Copied from the Exome Variant Server FANCB_000076 1/10562 1/6727 0/3835 - - - - - - -
?/? c.362G>A r.(?) p.(Arg121His) g.14883271C>T Copied from the Exome Variant Server FANCB_000075 2/10562 1/6727 1/3835 - - - - - - -
?/? c.402A>G r.(=) p.(=) g.14883231T>C Copied from the Exome Variant Server FANCB_000072 79/10561 0/6726 79/3835 - - - - - - -
?/? c.493G>C r.(?) p.(Gly165Arg) g.14883140C>G Copied from the Exome Variant Server FANCB_000071 1/10560 1/6725 0/3835 - - - - - - -
?/? c.504C>G r.(=) p.(=) g.14883129G>C Copied from the Exome Variant Server FANCB_000069 1/10562 0/6727 1/3835 - - - - - - -
?/? c.507T>C r.(=) p.(=) g.14883126A>G Copied from the Exome Variant Server FANCB_000068 2/10562 1/6727 1/3835 - - - - - - -
?/? c.508A>C r.(?) p.(Ile170Leu) g.14883125T>G Copied from the Exome Variant Server FANCB_000067 1/10562 0/6727 1/3835 - - - - - - -
?/? c.681C>T r.(=) p.(=) g.14882952G>A Copied from the Exome Variant Server FANCB_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.688C>T r.(?) p.(Pro230Ser) g.14882945G>A Copied from the Exome Variant Server FANCB_000065 1/10563 1/6728 0/3835 - - - - - - -
?/? c.833A>G r.(?) p.(Gln278Arg) g.14882800T>C Copied from the Exome Variant Server FANCB_000064 2/10563 2/6728 0/3835 - - - - - - -
?/? c.934T>C r.(?) p.(Trp312Arg) g.14882699A>G Copied from the Exome Variant Server FANCB_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.952-56_952-53del r.(=) p.(=) g.14877509_14877512del Copied from the Exome Variant Server FANCB_000062 2/10166 2/6460 0/3706 - - - - - - -
?/? c.952-24_952-22del r.(=) p.(=) g.14877478_14877480del Copied from the Exome Variant Server FANCB_000061 2/10203 2/6482 0/3721 - - - - - - -
?/? c.960T>G r.(=) p.(=) g.14877448A>C Copied from the Exome Variant Server FANCB_000060 4/10562 0/6727 4/3835 - - - - - - -
?/? c.989T>C r.(?) p.(Ile330Thr) g.14877419A>G Copied from the Exome Variant Server FANCB_000059 2/10561 2/6726 0/3835 - - - - - - -
?/? c.1004G>A r.(?) p.(Gly335Glu) g.14877404C>T Copied from the Exome Variant Server FANCB_000058 623/10560 566/6725 57/3835 - - - - - - -
?/? c.1067C>T r.(?) p.(Ser356Leu) g.14877341G>A Copied from the Exome Variant Server FANCB_000057 8/10562 0/6727 8/3835 - - - - - - -
?/? c.1098C>G r.(?) p.(Asn366Lys) g.14877310G>C Copied from the Exome Variant Server FANCB_000056 1/10557 1/6722 0/3835 - - - - - - -
?/? c.1103C>T r.(?) p.(Ser368Leu) g.14877305G>A Copied from the Exome Variant Server FANCB_000055 1/10557 1/6722 0/3835 - - - - - - -
?/? c.1105-45_1105-33del r.(=) p.(=) g.14876109_14876121del Copied from the Exome Variant Server FANCB_000054 4/10140 4/6458 0/3682 - - - - - - -
?/? c.1105-10_1105-7del r.(=) p.(=) g.14876083_14876086del Copied from the Exome Variant Server FANCB_000051 129/10181 99/6471 30/3710 - - - - - - -
?/? c.1105-10_1105-7dup r.(=) p.(=) g.14876083_14876086dup Copied from the Exome Variant Server FANCB_000050 103/10181 23/6471 80/3710 - - - - - - -
?/? c.1105-10_1105-3del N/A N/A g.14876079_14876086del Copied from the Exome Variant Server FANCB_000048 10/10181 2/6471 8/3710 - - - - - - -
?/? c.1131T>G r.(?) p.(Asp377Glu) g.14876050A>C Copied from the Exome Variant Server FANCB_000053 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1148A>G r.(?) p.(Lys383Arg) g.14876033T>C Copied from the Exome Variant Server FANCB_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1159C>T r.(?) p.(Arg387Cys) g.14876022G>A Copied from the Exome Variant Server FANCB_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1197+19_1197+21del r.(=) p.(=) g.14875963_14875965del Copied from the Exome Variant Server FANCB_000047 25/10205 20/6484 5/3721 - - - - - - -
?/? c.1197+21T>C r.(=) p.(=) g.14875963A>G Copied from the Exome Variant Server FANCB_000046 44/10563 1/6728 43/3835 - - - - - - -
?/? c.1197+31G>A r.(=) p.(=) g.14875953C>T Copied from the Exome Variant Server FANCB_000045 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1289T>C r.(?) p.(Val430Ala) g.14871198A>G Copied from the Exome Variant Server FANCB_000044 1/10557 0/6722 1/3835 - - - - - - -
?/? c.1327-43C>T r.(=) p.(=) g.14868839G>A Copied from the Exome Variant Server FANCB_000043 1/10304 1/6590 0/3714 - - - - - - -
?/? c.1327-38C>T r.(=) p.(=) g.14868834G>A Copied from the Exome Variant Server FANCB_000042 1/10366 1/6627 0/3739 - - - - - - -
?/? c.1327-37G>A r.(=) p.(=) g.14868833C>T Copied from the Exome Variant Server FANCB_000041 8/10383 0/6634 8/3749 - - - - - - -
?/? c.1327-10T>C r.(=) p.(=) g.14868806A>G Copied from the Exome Variant Server FANCB_000040 5831/10527 3952/6706 1879/3821 - - - - - - -
?/? c.1327-3del r.spl? p.? g.14868799del Copied from the Exome Variant Server FANCB_000039 745/10158 271/6457 474/3701 - - - - - - -
?/? c.1327-3dup r.spl? p.? g.14868799dup Copied from the Exome Variant Server FANCB_000038 31/10158 23/6457 8/3701 - - - - - - -
?/? c.1331A>T r.(?) p.(Glu444Val) g.14868792T>A Copied from the Exome Variant Server FANCB_000037 1/10556 1/6723 0/3833 - - - - - - -
?/? c.1371C>T r.(=) p.(=) g.14868752G>A Copied from the Exome Variant Server FANCB_000036 5/10563 5/6728 0/3835 - - - - - - -
?/? c.1373A>G r.(?) p.(His458Arg) g.14868750T>C Copied from the Exome Variant Server FANCB_000035 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1390T>C r.(=) p.(=) g.14868733A>G Copied from the Exome Variant Server FANCB_000034 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1393T>C r.(?) p.(Ser465Pro) g.14868730A>G Copied from the Exome Variant Server FANCB_000033 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1402T>A r.(?) p.(Phe468Ile) g.14868721A>T Copied from the Exome Variant Server FANCB_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1426G>A r.(?) p.(Glu476Lys) g.14868697C>T Copied from the Exome Variant Server FANCB_000031 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1442G>A r.(?) p.(Arg481His) g.14868681C>T Copied from the Exome Variant Server FANCB_000030 4/10562 0/6727 4/3835 - - - - - - -
?/? c.1497-17G>A r.(=) p.(=) g.14863425C>T Copied from the Exome Variant Server FANCB_000029 1/10328 1/6634 0/3694 - - - - - - -
?/? c.1552T>A r.(?) p.(Phe518Ile) g.14863353A>T Copied from the Exome Variant Server FANCB_000028 1/10560 0/6727 1/3833 - - - - - - -
?/? c.1570C>G r.(?) p.(Gln524Glu) g.14863335G>C Copied from the Exome Variant Server FANCB_000027 2/10560 2/6727 0/3833 - - - - - - -
?/? c.1658C>T r.(?) p.(Thr553Met) g.14863247G>A Copied from the Exome Variant Server FANCB_000026 7/10563 0/6728 7/3835 - - - - - - -
?/? c.1688G>T r.(?) p.(Ser563Ile) g.14863217C>A Copied from the Exome Variant Server FANCB_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1720T>A r.(?) p.(Cys574Ser) g.14863185A>T Copied from the Exome Variant Server FANCB_000024 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1769T>C r.(?) p.(Phe590Ser) g.14863136A>G Copied from the Exome Variant Server FANCB_000023 12/10563 11/6728 1/3835 - - - - - - -
?/? c.1817G>A r.(?) p.(Ser606Asn) g.14863088C>T Copied from the Exome Variant Server FANCB_000022 2/10562 2/6727 0/3835 - - - - - - -
?/? c.1838G>A r.(?) p.(Arg613His) g.14863067C>T Copied from the Exome Variant Server FANCB_000021 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1894T>G r.(?) p.(Tyr632Asp) g.14863011A>C Copied from the Exome Variant Server FANCB_000020 1/10561 1/6727 0/3834 - - - - - - -
?/? c.1924A>G r.(?) p.(Ile642Val) g.14862981T>C Copied from the Exome Variant Server FANCB_000019 1/10547 1/6721 0/3826 - - - - - - -
?/? c.1996G>A r.(?) p.(Gly666Ser) g.14862794C>T Copied from the Exome Variant Server FANCB_000018 44/10561 1/6726 43/3835 - - - - - - -
?/? c.2015T>C r.(?) p.(Met672Thr) g.14862775A>G Copied from the Exome Variant Server FANCB_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2090C>T r.(?) p.(Pro697Leu) g.14862700G>A Copied from the Exome Variant Server FANCB_000016 3/10563 3/6728 0/3835 - - - - - - -
?/? c.2146A>T r.(?) p.(Ile716Phe) g.14862644T>A Copied from the Exome Variant Server FANCB_000015 1/10560 1/6725 0/3835 - - - - - - -
?/? c.2151A>T r.(?) p.(Leu717Phe) g.14862639T>A Copied from the Exome Variant Server FANCB_000014 1/10559 1/6724 0/3835 - - - - - - -
?/? c.2157C>G r.(?) p.(Ile719Met) g.14862633G>C Copied from the Exome Variant Server FANCB_000013 1/10559 1/6724 0/3835 - - - - - - -
?/? c.2171A>G r.(?) p.(Gln724Arg) g.14862098T>C Copied from the Exome Variant Server FANCB_000012 1/10472 0/6689 1/3783 - - - - - - -
?/? c.2339A>G r.(?) p.(His780Arg) g.14861930T>C Copied from the Exome Variant Server FANCB_000011 4/10561 0/6726 4/3835 - - - - - - -
?/? c.2342A>G r.(?) p.(Glu781Gly) g.14861927T>C Copied from the Exome Variant Server FANCB_000010 2/10561 2/6726 0/3835 - - - - - - -
?/? c.2378G>A r.(?) p.(Gly793Glu) g.14861891C>T Copied from the Exome Variant Server FANCB_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2394C>T r.(=) p.(=) g.14861875G>A Copied from the Exome Variant Server FANCB_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2395G>A r.(?) p.(Ala799Thr) g.14861874C>T Copied from the Exome Variant Server FANCB_000007 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2411A>G r.(?) p.(Asp804Gly) g.14861858T>C Copied from the Exome Variant Server FANCB_000006 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2452A>G r.(?) p.(Arg818Gly) g.14861817T>C Copied from the Exome Variant Server FANCB_000005 3/10563 3/6728 0/3835 - - - - - - -
?/? c.2477C>T r.(?) p.(Thr826Met) g.14861792G>A Copied from the Exome Variant Server FANCB_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2485A>G r.(?) p.(Lys829Glu) g.14861784T>C Copied from the Exome Variant Server FANCB_000003 2/10563 0/6728 2/3835 - - - - - - -
?/? c.*14T>C r.(=) p.(=) g.14861675A>G Copied from the Exome Variant Server FANCB_000002 318/10537 3/6706 315/3831 - - - - - - -
?/? c.*33T>C r.(=) p.(=) g.14861656A>G Copied from the Exome Variant Server FANCB_000001 13/10458 12/6670 1/3788 - - - - - - -
Legend