Full data view for gene BCAP31

Information The variants shown are described using the NM_005745.7 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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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.-12_-10del r.(=) p.(=) g.152988709_152988711del Copied from the Exome Variant Server BCAP31_000005 13/10203 9/6483 4/3720 - - - - - - -
?/? c.-4C>T r.(=) p.(=) g.152988703G>A Copied from the Exome Variant Server BCAP31_000004 3/10561 0/6726 3/3835 - - - - - - -
?/? c.9G>T r.(=) p.(=) g.152988691C>A Copied from the Exome Variant Server BCAP31_000003 2/10562 2/6727 0/3835 - - - - - - -
?/? c.81T>C r.(=) p.(=) g.152988619A>G Copied from the Exome Variant Server BCAP31_000002 2/10563 2/6728 0/3835 - - - - - - -
?/? c.89A>G r.(?) p.(Lys30Arg) g.152988611T>C Copied from the Exome Variant Server BCAP31_000001 1/10563 1/6728 0/3835 - - - - - - -
?/? c.92+44C>T r.(=) p.(=) g.152988564G>A Copied from the Exome Variant Server BCAP31_000023 426/10561 3/6727 423/3834 - - - - - - -
?/? c.93-48G>A r.(=) p.(=) g.152986475C>T Copied from the Exome Variant Server BCAP31_000022 1/10560 0/6728 1/3832 - - - - - - -
?/? c.93-41T>A r.(=) p.(=) g.152986468A>T Copied from the Exome Variant Server BCAP31_000021 38/10561 0/6728 38/3833 - - - - - - -
?/? c.93-25C>G r.(=) p.(=) g.152986452G>C Copied from the Exome Variant Server BCAP31_000020 4/10561 0/6728 4/3833 - - - - - - -
?/? c.93-24C>T r.(=) p.(=) g.152986451G>A Copied from the Exome Variant Server BCAP31_000019 1/10561 1/6728 0/3833 - - - - - - -
?/? c.115C>T r.(?) p.(Arg39Trp) g.152986405G>A Copied from the Exome Variant Server BCAP31_000018 7/10563 0/6728 7/3835 - - - - - - -
?/? c.165C>T r.(=) p.(=) g.152986355G>A Copied from the Exome Variant Server BCAP31_000017 5/10563 0/6728 5/3835 - - - - - - -
?/? c.194-47C>T r.(=) p.(=) g.152981191G>A Copied from the Exome Variant Server BCAP31_000016 2/10563 0/6728 2/3835 - - - - - - -
?/? c.194-37C>T r.(=) p.(=) g.152981181G>A Copied from the Exome Variant Server BCAP31_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.194-18del r.(=) p.(=) g.152981162del Copied from the Exome Variant Server BCAP31_000014 1/10205 1/6484 0/3721 - - - - - - -
?/? c.198C>T r.(=) p.(=) g.152981140G>A Copied from the Exome Variant Server BCAP31_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.309C>G r.(=) p.(=) g.152981029G>C Copied from the Exome Variant Server BCAP31_000012 4/10563 0/6728 4/3835 - - - - - - -
?/? c.313A>G r.(?) p.(Ile105Val) g.152981025T>C Copied from the Exome Variant Server BCAP31_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.341+7G>T r.(=) p.(=) g.152980990C>A Copied from the Exome Variant Server BCAP31_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.341+10G>A r.(=) p.(=) g.152980987C>T Copied from the Exome Variant Server BCAP31_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.341+40C>T r.(=) p.(=) g.152980957G>A Copied from the Exome Variant Server BCAP31_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.341+47C>G r.(=) p.(=) g.152980950G>C Copied from the Exome Variant Server BCAP31_000007 5/10563 0/6728 5/3835 - - - - - - -
?/? c.342-44T>C r.(=) p.(=) g.152969593A>G Copied from the Exome Variant Server BCAP31_000006 1/10561 0/6727 1/3834 - - - - - - -
?/? c.342-10A>C r.(=) p.(=) g.152969559T>G Copied from the Exome Variant Server BCAP31_000048 3/10563 2/6728 1/3835 - - - - - - -
?/? c.383C>T r.(?) p.(Thr128Met) g.152969508G>A Copied from the Exome Variant Server BCAP31_000047 12/10563 11/6728 1/3835 - - - - - - -
?/? c.384G>A r.(=) p.(=) g.152969507C>T Copied from the Exome Variant Server BCAP31_000046 4/10563 3/6728 1/3835 - - - - - - -
?/? c.387G>A r.(=) p.(=) g.152969504C>T Copied from the Exome Variant Server BCAP31_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.398A>G r.(?) p.(Asn133Ser) g.152969493T>C Copied from the Exome Variant Server BCAP31_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.465C>T r.(=) p.(=) g.152969426G>A Copied from the Exome Variant Server BCAP31_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.477+29G>C r.(=) p.(=) g.152969385C>G Copied from the Exome Variant Server BCAP31_000042 262/10563 2/6728 260/3835 - - - - - - -
?/? c.477+32G>A r.(=) p.(=) g.152969382C>T Copied from the Exome Variant Server BCAP31_000041 774/10563 5/6728 769/3835 - - - - - - -
?/? c.477+39T>A r.(=) p.(=) g.152969375A>T Copied from the Exome Variant Server BCAP31_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.478-40C>T r.(=) p.(=) g.152968553G>A Copied from the Exome Variant Server BCAP31_000039 46/10563 42/6728 4/3835 - - - - - - -
?/? c.478-34C>G r.(=) p.(=) g.152968547G>C Copied from the Exome Variant Server BCAP31_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.579C>T r.(=) p.(=) g.152968412G>A Copied from the Exome Variant Server BCAP31_000037 4/10563 0/6728 4/3835 - - - - - - -
?/? c.594T>C r.(=) p.(=) g.152968397A>G Copied from the Exome Variant Server BCAP31_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.601+9C>T r.(=) p.(=) g.152968381G>A Copied from the Exome Variant Server BCAP31_000035 20/10563 18/6728 2/3835 - - - - - - -
?/? c.601+27C>T r.(=) p.(=) g.152968363G>A Copied from the Exome Variant Server BCAP31_000034 5/10563 4/6728 1/3835 - - - - - - -
?/? c.601+32G>T r.(=) p.(=) g.152968358C>A Copied from the Exome Variant Server BCAP31_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.601+33G>A r.(=) p.(=) g.152968357C>T Copied from the Exome Variant Server BCAP31_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.601+49T>G r.(=) p.(=) g.152968341A>C Copied from the Exome Variant Server BCAP31_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.602-36C>T r.(=) p.(=) g.152967598G>A Copied from the Exome Variant Server BCAP31_000030 2/10562 2/6727 0/3835 - - - - - - -
?/? c.602-31C>T r.(=) p.(=) g.152967593G>A Copied from the Exome Variant Server BCAP31_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.637C>T r.(?) p.(Arg213Trp) g.152967527G>A Copied from the Exome Variant Server BCAP31_000028 1/10559 1/6724 0/3835 - - - - - - -
?/? c.702+13G>A r.(=) p.(=) g.152967449C>T Copied from the Exome Variant Server BCAP31_000027 3/10563 0/6728 3/3835 - - - - - - -
?/? c.702+23G>A r.(=) p.(=) g.152967439C>T Copied from the Exome Variant Server BCAP31_000026 3/10562 2/6727 1/3835 - - - - - - -
?/? c.702+25C>T r.(=) p.(=) g.152967437G>A Copied from the Exome Variant Server BCAP31_000025 1/10562 0/6727 1/3835 - - - - - - -
?/? c.703-38G>A r.(=) p.(=) g.152966468C>T Copied from the Exome Variant Server BCAP31_000024 3/10562 3/6727 0/3835 - - - - - - -
?/? c.706G>A r.(?) p.(Ala236Thr) g.152966427C>T Copied from the Exome Variant Server BCAP31_000054 4/10563 4/6728 0/3835 - - - - - - -
?/? c.719C>T r.(?) p.(Pro240Leu) g.152966414G>A Copied from the Exome Variant Server BCAP31_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.727A>G r.(?) p.(Lys243Glu) g.152966406T>C Copied from the Exome Variant Server BCAP31_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*38C>T r.(=) p.(=) g.152966354G>A Copied from the Exome Variant Server BCAP31_000051 3/10563 0/6728 3/3835 - - - - - - -
?/? c.*44C>T r.(=) p.(=) g.152966348G>A Copied from the Exome Variant Server BCAP31_000050 2/10562 1/6728 1/3834 - - - - - - -
?/? c.*68C>T r.(=) p.(=) g.152966324G>A Copied from the Exome Variant Server BCAP31_000049 26/3600 26/2391 0/1209 - - - - - - -
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