Full data view for gene B3GAT3

Information The variants shown are described using the NM_012200.3 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.1A>T r.? p.? g.62389419T>A Copied from the Exome Variant Server B3GAT3_000054 1/12996 1/8592 0/4404 - - - - - - -
?/? c.69G>T r.(=) p.(=) g.62389351C>A Copied from the Exome Variant Server B3GAT3_000053 1/12990 1/8588 0/4402 - - - - - - -
?/? c.82+11del r.(=) p.(=) g.62389327del Copied from the Exome Variant Server B3GAT3_000052 32/12338 24/8144 8/4194 - - - - - - -
?/? c.83-40G>C r.(=) p.(=) g.62388183C>G Copied from the Exome Variant Server B3GAT3_000051 1/13000 0/8596 1/4404 - - - - - - -
?/? c.83-33C>A r.(=) p.(=) g.62388176G>T Copied from the Exome Variant Server B3GAT3_000050 1/13002 1/8598 0/4404 - - - - - - -
?/? c.106C>T r.(?) p.(Pro36Ser) g.62388120G>A Copied from the Exome Variant Server B3GAT3_000049 1/13000 1/8596 0/4404 - - - - - - -
?/? c.113G>A r.(?) p.(Arg38Gln) g.62388113C>T Copied from the Exome Variant Server B3GAT3_000048 1/13000 1/8596 0/4404 - - - - - - -
?/? c.134G>A r.(?) p.(Arg45Gln) g.62388092C>T Copied from the Exome Variant Server B3GAT3_000047 2/13002 1/8598 1/4404 - - - - - - -
?/? c.167C>T r.(?) p.(Ala56Val) g.62388059G>A Copied from the Exome Variant Server B3GAT3_000046 2/12996 2/8592 0/4404 - - - - - - -
?/? c.178C>G r.(?) p.(Arg60Gly) g.62388048G>C Copied from the Exome Variant Server B3GAT3_000045 1/12990 0/8586 1/4404 - - - - - - -
?/? c.202C>T r.(?) p.(Pro68Ser) g.62388024G>A Copied from the Exome Variant Server B3GAT3_000044 2/12976 2/8584 0/4392 - - - - - - -
?/? c.213C>T r.(=) p.(=) g.62388013G>A Copied from the Exome Variant Server B3GAT3_000043 1/12984 1/8588 0/4396 - - - - - - -
?/? c.243C>T r.(=) p.(=) g.62387983G>A Copied from the Exome Variant Server B3GAT3_000042 1/13002 0/8598 1/4404 - - - - - - -
?/? c.257+17A>G r.(=) p.(=) g.62387952T>C Copied from the Exome Variant Server B3GAT3_000041 2/13002 2/8598 0/4404 - - - - - - -
?/? c.258-50A>G r.(=) p.(=) g.62384869T>C Copied from the Exome Variant Server B3GAT3_000040 12572/12642 8389/8392 4183/4250 - - - - - - -
?/? c.258-37C>T r.(=) p.(=) g.62384856G>A Copied from the Exome Variant Server B3GAT3_000039 110/12748 2/8456 108/4292 - - - - - - -
?/? c.284G>A r.(?) p.(Arg95Gln) g.62384793C>T Copied from the Exome Variant Server B3GAT3_000038 1/12978 0/8582 1/4396 - - - - - - -
?/? c.313C>T r.(?) p.(Arg105Trp) g.62384764G>A Copied from the Exome Variant Server B3GAT3_000037 1/12926 1/8546 0/4380 - - - - - - -
?/? c.337G>A r.(?) p.(Asp113Asn) g.62384740C>T Copied from the Exome Variant Server B3GAT3_000036 1/12930 0/8556 1/4374 - - - - - - -
?/? c.430C>T r.(?) p.(Arg144Trp) g.62384647G>A Copied from the Exome Variant Server B3GAT3_000035 4/12992 0/8588 4/4404 - - - - - - -
?/? c.454T>C r.(?) p.(Trp152Arg) g.62384623A>G Copied from the Exome Variant Server B3GAT3_000034 1/13002 1/8598 0/4404 - - - - - - -
?/? c.462T>C r.(=) p.(=) g.62384615A>G Copied from the Exome Variant Server B3GAT3_000033 2/13002 0/8598 2/4404 - - - - - - -
?/? c.472G>A r.(?) p.(Val158Ile) g.62384605C>T Copied from the Exome Variant Server B3GAT3_000032 1/13002 0/8598 1/4404 - - - - - - -
?/? c.506G>A r.(?) p.(Arg169Gln) g.62384571C>T Copied from the Exome Variant Server B3GAT3_000031 2/13002 2/8598 0/4404 - - - - - - -
?/? c.554G>A r.(?) p.(Gly185Glu) g.62384523C>T Copied from the Exome Variant Server B3GAT3_000030 15/13002 14/8598 1/4404 - - - - - - -
?/? c.557C>T r.(?) p.(Thr186Ile) g.62384520G>A Copied from the Exome Variant Server B3GAT3_000029 1/13002 0/8598 1/4404 - - - - - - -
?/? c.558C>T r.(=) p.(=) g.62384519G>A Copied from the Exome Variant Server B3GAT3_000028 1/13002 1/8598 0/4404 - - - - - - -
?/? c.568G>A r.(?) p.(Val190Ile) g.62384509C>T Copied from the Exome Variant Server B3GAT3_000027 1/13002 1/8598 0/4404 - - - - - - -
?/? c.619-40C>T r.(=) p.(=) g.62384308G>A Copied from the Exome Variant Server B3GAT3_000026 112/13002 0/8598 112/4404 - - - - - - -
?/? c.619-39G>A r.(=) p.(=) g.62384307C>T Copied from the Exome Variant Server B3GAT3_000025 1/12998 0/8596 1/4402 - - - - - - -
?/? c.619-12G>A r.(=) p.(=) g.62384280C>T Copied from the Exome Variant Server B3GAT3_000024 1/13000 1/8596 0/4404 - - - - - - -
?/? c.619-10C>A r.(=) p.(=) g.62384278G>T Copied from the Exome Variant Server B3GAT3_000023 1/13000 1/8596 0/4404 - - - - - - -
?/? c.619-6C>T r.(=) p.(=) g.62384274G>A Copied from the Exome Variant Server B3GAT3_000022 3/13000 0/8596 3/4404 - - - - - - -
?/? c.664G>A r.(?) p.(Gly222Ser) g.62384223C>T Copied from the Exome Variant Server B3GAT3_000021 1/13002 1/8598 0/4404 - - - - - - -
?/? c.667G>A r.(?) p.(Gly223Ser) g.62384220C>T Copied from the Exome Variant Server B3GAT3_000020 1/13002 1/8598 0/4404 - - - - - - -
?/? c.673C>T r.(?) p.(Arg225*) g.62384214G>A Copied from the Exome Variant Server B3GAT3_000019 1/13000 1/8596 0/4404 - - - - - - -
?/? c.681G>A r.(=) p.(=) g.62384206C>T Copied from the Exome Variant Server B3GAT3_000018 2/13002 2/8598 0/4404 - - - - - - -
?/? c.709G>A r.(?) p.(Val237Met) g.62384178C>T Copied from the Exome Variant Server B3GAT3_000017 12/13002 12/8598 0/4404 - - - - - - -
?/? c.741G>A r.(=) p.(=) g.62384146C>T Copied from the Exome Variant Server B3GAT3_000016 3/13002 3/8598 0/4404 - - - - - - -
?/? c.765_773del r.(?) p.(Phe256_Val258del) g.62384114_62384122del Copied from the Exome Variant Server B3GAT3_000015 4/12518 4/8254 0/4264 - - - - - - -
?/? c.803A>G r.(?) p.(Asn268Ser) g.62384084T>C Copied from the Exome Variant Server B3GAT3_000014 2/13002 1/8598 1/4404 - - - - - - -
?/? c.806C>T r.(?) p.(Ala269Val) g.62384081G>A Copied from the Exome Variant Server B3GAT3_000013 1/13002 1/8598 0/4404 - - - - - - -
?/? c.821C>A r.(?) p.(Thr274Asn) g.62384066G>T Copied from the Exome Variant Server B3GAT3_000012 90/13002 0/8598 90/4404 - - - - - - -
?/? c.822C>T r.(=) p.(=) g.62384065G>A Copied from the Exome Variant Server B3GAT3_000011 1/13002 0/8598 1/4404 - - - - - - -
?/? c.829C>T r.(?) p.(Arg277Trp) g.62384058G>A Copied from the Exome Variant Server B3GAT3_000010 1/13002 0/8598 1/4404 - - - - - - -
?/? c.866T>C r.(?) p.(Val289Ala) g.62384021A>G Copied from the Exome Variant Server B3GAT3_000009 1/13000 0/8596 1/4404 - - - - - - -
?/? c.876G>C r.(?) p.(Lys292Asn) g.62384011C>G Copied from the Exome Variant Server B3GAT3_000008 5/13000 0/8596 5/4404 - - - - - - -
?/? c.891G>C r.(=) p.(=) g.62383996C>G Copied from the Exome Variant Server B3GAT3_000007 1/12998 1/8594 0/4404 - - - - - - -
?/? c.906T>G r.(=) p.(=) g.62383981A>C Copied from the Exome Variant Server B3GAT3_000006 3/13000 0/8596 3/4404 - - - - - - -
?/? c.909+20C>T r.(=) p.(=) g.62383958G>A Copied from the Exome Variant Server B3GAT3_000005 1/12996 1/8592 0/4404 - - - - - - -
?/? c.930G>A r.(=) p.(=) g.62383251C>T Copied from the Exome Variant Server B3GAT3_000004 23/13002 22/8598 1/4404 - - - - - - -
?/? c.971G>A r.(?) p.(Arg324Gln) g.62383210C>T Copied from the Exome Variant Server B3GAT3_000003 1/13002 1/8598 0/4404 - - - - - - -
?/? c.979C>T r.(?) p.(Arg327Trp) g.62383202G>A Copied from the Exome Variant Server B3GAT3_000002 2/13002 2/8598 0/4404 - - - - - - -
?/? c.*5G>A r.(=) p.(=) g.62383168C>T Copied from the Exome Variant Server B3GAT3_000001 2/13002 0/8598 2/4404 - - - - - - -
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