All transcript variants in gene PIR

Information The variants shown are described using the NM_003662.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-39A>G r.(=) p.(=) g.15509419T>C Copied from the Exome Variant Server PIR_000062 1/10563 1/6728 0/3835
?/? c.-29A>G r.(=) p.(=) g.15509409T>C Copied from the Exome Variant Server PIR_000061 1/10563 1/6728 0/3835
?/? c.-4C>T r.(=) p.(=) g.15509384G>A Copied from the Exome Variant Server PIR_000060 1/10563 1/6728 0/3835
?/? c.-3G>A r.(=) p.(=) g.15509383C>T Copied from the Exome Variant Server PIR_000059 1/10563 0/6728 1/3835
?/? c.40C>T r.(?) p.(Arg14Trp) g.15509341G>A Copied from the Exome Variant Server PIR_000058 4/10563 1/6728 3/3835
?/? c.51G>A r.(=) p.(=) g.15509330C>T Copied from the Exome Variant Server PIR_000057 2/10563 0/6728 2/3835
?/? c.56G>C r.(?) p.(Gly19Ala) g.15509325C>G Copied from the Exome Variant Server PIR_000056 1/10563 0/6728 1/3835
?/? c.66G>A r.(=) p.(=) g.15509315C>T Copied from the Exome Variant Server PIR_000055 1/10563 0/6728 1/3835
?/? c.68G>C r.(?) p.(Arg23Thr) g.15509313C>G Copied from the Exome Variant Server PIR_000054 79/10563 0/6728 79/3835
?/? c.96+24C>T r.(=) p.(=) g.15509261G>A Copied from the Exome Variant Server PIR_000053 2/10563 2/6728 0/3835
?/? c.97-37del r.(=) p.(=) g.15497981del Copied from the Exome Variant Server PIR_000052 1/10151 0/6453 1/3698
?/? c.97-29C>G r.(=) p.(=) g.15497973G>C Copied from the Exome Variant Server PIR_000051 2/10538 0/6714 2/3824
?/? c.97-23T>A r.(=) p.(=) g.15497967A>T Copied from the Exome Variant Server PIR_000050 799/10545 7/6717 792/3828
?/? c.114G>A r.(=) p.(=) g.15497927C>T Copied from the Exome Variant Server PIR_000049 3/10559 1/6726 2/3833
?/? c.141A>C r.(=) p.(=) g.15497900T>G Copied from the Exome Variant Server PIR_000048 1/10560 1/6727 0/3833
?/? c.175C>T r.(?) p.(Arg59*) g.15497866G>A Copied from the Exome Variant Server PIR_000047 1/10560 0/6727 1/3833
?/? c.176G>A r.(?) p.(Arg59Gln) g.15497865C>T Copied from the Exome Variant Server PIR_000046 1/10560 1/6727 0/3833
?/? c.189+25A>G r.(=) p.(=) g.15497827T>C Copied from the Exome Variant Server PIR_000045 1/10559 1/6726 0/3833
?/? c.273+51C>T r.(=) p.(=) g.15477729G>A Copied from the Exome Variant Server PIR_000044 1/10563 1/6728 0/3835
?/? c.284C>T r.(?) p.(Ala95Val) g.15474167G>A Copied from the Exome Variant Server PIR_000043 1/10563 1/6728 0/3835
?/? c.285G>A r.(=) p.(=) g.15474166C>T Copied from the Exome Variant Server PIR_000042 2/10563 0/6728 2/3835
?/? c.289C>T r.(?) p.(Arg97Trp) g.15474162G>A Copied from the Exome Variant Server PIR_000041 3/10563 2/6728 1/3835
?/? c.292G>A r.(?) p.(Gly98Ser) g.15474159C>T Copied from the Exome Variant Server PIR_000040 1/10563 1/6728 0/3835
?/? c.317G>T r.(?) p.(Cys106Phe) g.15474134C>A Copied from the Exome Variant Server PIR_000039 35/10563 0/6728 35/3835
?/? c.328C>A r.(?) p.(Pro110Thr) g.15474123G>T Copied from the Exome Variant Server PIR_000038 1/10563 0/6728 1/3835
?/? c.388C>T r.(?) p.(Gln130*) g.15474063G>A Copied from the Exome Variant Server PIR_000037 3/10563 3/6728 0/3835
?/? c.465A>G r.(=) p.(=) g.15473986T>C Copied from the Exome Variant Server PIR_000036 1/10563 0/6728 1/3835
?/? c.480+6C>T r.(=) p.(=) g.15473965G>A Copied from the Exome Variant Server PIR_000035 3/10563 0/6728 3/3835
?/? c.480+33G>C r.(=) p.(=) g.15473938C>G Copied from the Exome Variant Server PIR_000034 1/10563 0/6728 1/3835
?/? c.481-25C>T r.(=) p.(=) g.15444138G>A Copied from the Exome Variant Server PIR_000033 1/10563 1/6728 0/3835
?/? c.481-8C>T r.(=) p.(=) g.15444121G>A Copied from the Exome Variant Server PIR_000032 1/10563 1/6728 0/3835
?/? c.550C>T r.(?) p.(Gln184*) g.15444044G>A Copied from the Exome Variant Server PIR_000031 1/10563 1/6728 0/3835
?/? c.565+15G>A r.(=) p.(=) g.15444014C>T Copied from the Exome Variant Server PIR_000030 1/10563 1/6728 0/3835
?/? c.565+19T>G r.(=) p.(=) g.15444010A>C Copied from the Exome Variant Server PIR_000029 2/10563 2/6728 0/3835
?/? c.565+25_565+27del r.(=) p.(=) g.15444002_15444004del Copied from the Exome Variant Server PIR_000028 18/10205 11/6484 7/3721
?/? c.565+31G>A r.(=) p.(=) g.15443998C>T Copied from the Exome Variant Server PIR_000027 2/10563 0/6728 2/3835
?/? c.566-31C>T r.(=) p.(=) g.15425703G>A Copied from the Exome Variant Server PIR_000026 2/10563 2/6728 0/3835
?/? c.587C>T r.(?) p.(Thr196Met) g.15425651G>A Copied from the Exome Variant Server PIR_000025 1/10563 0/6728 1/3835
?/? c.611-20G>A r.(=) p.(=) g.15415673C>T Copied from the Exome Variant Server PIR_000024 1/10563 1/6728 0/3835
?/? c.637G>C r.(?) p.(Glu213Gln) g.15415627C>G Copied from the Exome Variant Server PIR_000023 1/10563 1/6728 0/3835
?/? c.640C>A r.(?) p.(Pro214Thr) g.15415624G>T Copied from the Exome Variant Server PIR_000022 2/10563 0/6728 2/3835
?/? c.668G>A r.(?) p.(Gly223Asp) g.15415596C>T Copied from the Exome Variant Server PIR_000021 3/10563 1/6728 2/3835
?/? c.681G>A r.(=) p.(=) g.15415583C>T Copied from the Exome Variant Server PIR_000020 5183/10563 3912/6728 1271/3835
?/? c.683T>C r.(?) p.(Val228Ala) g.15415581A>G Copied from the Exome Variant Server PIR_000019 315/10563 5/6728 310/3835
?/? c.693+16T>A r.(=) p.(=) g.15415555A>T Copied from the Exome Variant Server PIR_000018 50/10560 47/6725 3/3835
?/? c.693+17C>A r.(=) p.(=) g.15415554G>T Copied from the Exome Variant Server PIR_000017 59/10560 56/6725 3/3835
?/? c.693+16_693+21del r.(=) p.(=) g.15415550_15415555del Copied from the Exome Variant Server PIR_000016 308/10204 275/6483 33/3721
?/? c.693+27T>G r.(=) p.(=) g.15415544A>C Copied from the Exome Variant Server PIR_000015 81/10563 0/6728 81/3835
?/? c.694-46A>G r.(=) p.(=) g.15408419T>C Copied from the Exome Variant Server PIR_000014 5591/10561 3439/6726 2152/3835
?/? c.694-38G>A r.(=) p.(=) g.15408411C>T Copied from the Exome Variant Server PIR_000013 2/10562 1/6727 1/3835
?/? c.694G>A r.(?) p.(Asp232Asn) g.15408373C>T Copied from the Exome Variant Server PIR_000012 111/10563 0/6728 111/3835
?/? c.699C>T r.(=) p.(=) g.15408368G>A Copied from the Exome Variant Server PIR_000011 1/10563 1/6728 0/3835
?/? c.750T>C r.(=) p.(=) g.15408317A>G Copied from the Exome Variant Server PIR_000010 1/10563 1/6728 0/3835
?/? c.760+60A>T r.(=) p.(=) g.15408247T>A Copied from the Exome Variant Server PIR_000009 1/3600 1/2391 0/1209
?/? c.761-24T>C r.(=) p.(=) g.15403262A>G Copied from the Exome Variant Server PIR_000008 9/10559 0/6728 9/3831
?/? c.761-17G>A r.(=) p.(=) g.15403255C>T Copied from the Exome Variant Server PIR_000007 1/10561 1/6728 0/3833
?/? c.782A>G r.(?) p.(Asn261Ser) g.15403217T>C Copied from the Exome Variant Server PIR_000006 1/10559 1/6726 0/3833
?/? c.788A>G r.(?) p.(Glu263Gly) g.15403211T>C Copied from the Exome Variant Server PIR_000005 1/10559 0/6726 1/3833
?/? c.794C>G r.(?) p.(Ser265Cys) g.15403205G>C Copied from the Exome Variant Server PIR_000004 1/10561 1/6728 0/3833
?/? c.840G>A r.(=) p.(=) g.15403159C>T Copied from the Exome Variant Server PIR_000003 1/10561 0/6728 1/3833
?/? c.*16C>T r.(=) p.(=) g.15403110G>A Copied from the Exome Variant Server PIR_000002 1/10561 1/6728 0/3833
?/? c.*43C>T r.(=) p.(=) g.15403083G>A Copied from the Exome Variant Server PIR_000001 64/10563 1/6728 63/3835
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