Unique variants in gene GPM6B

Information The variants shown are described using the NM_001001995.1 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-28del r.(=) p.(=) g.13835051del Copied from the Exome Variant Server GPM6B_000049 1/10205 0/6484 1/3721
1 c.1A>G r.? p.? g.13835023T>C Copied from the Exome Variant Server GPM6B_000048 1/10563 0/6728 1/3835
1 c.61+10G>A r.(=) p.(=) g.13834953C>T Copied from the Exome Variant Server GPM6B_000047 2/10563 0/6728 2/3835
1 c.61+45G>A r.(=) p.(=) g.13834918C>T Copied from the Exome Variant Server GPM6B_000046 2/10563 0/6728 2/3835
1 c.62-24C>T r.(=) p.(=) g.13825912G>A Copied from the Exome Variant Server GPM6B_000045 2/10563 2/6728 0/3835
1 c.120G>C r.(?) p.(Lys40Asn) g.13825830C>G Copied from the Exome Variant Server GPM6B_000043 13/10563 12/6728 1/3835
1 c.138C>T r.(=) p.(=) g.13825812G>A Copied from the Exome Variant Server GPM6B_000041 1/10563 1/6728 0/3835
1 c.181+25C>A r.(=) p.(=) g.13825744G>T Copied from the Exome Variant Server GPM6B_000040 3/10563 3/6728 0/3835
1 c.181+46T>C r.(=) p.(=) g.13825723A>G Copied from the Exome Variant Server GPM6B_000039 1/10563 0/6728 1/3835
1 c.182-33G>A r.(=) p.(=) g.13803960C>T Copied from the Exome Variant Server GPM6B_000037 6231/10559 3822/6728 2409/3831
1 c.182-17C>T r.(=) p.(=) g.13803944G>A Copied from the Exome Variant Server GPM6B_000035 8/10562 0/6727 8/3835
1 c.199A>G r.(?) p.(Ile67Val) g.13803910T>C Copied from the Exome Variant Server GPM6B_000033 1/10563 1/6728 0/3835
1 c.225C>T r.(=) p.(=) g.13803884G>A Copied from the Exome Variant Server GPM6B_000044 215/10563 197/6728 18/3835
1 c.261G>T r.(=) p.(=) g.13803848C>A Copied from the Exome Variant Server GPM6B_000042 23/10563 0/6728 23/3835
1 c.340G>A r.(?) p.(Ala114Thr) g.13803769C>T Copied from the Exome Variant Server GPM6B_000038 1/10563 0/6728 1/3835
1 c.342C>A r.(=) p.(=) g.13803767G>T Copied from the Exome Variant Server GPM6B_000036 1/10563 1/6728 0/3835
1 c.368+11G>A r.(=) p.(=) g.13803730C>T Copied from the Exome Variant Server GPM6B_000034 1/10563 1/6728 0/3835
1 c.368+20T>C r.(=) p.(=) g.13803721A>G Copied from the Exome Variant Server GPM6B_000032 1/10563 0/6728 1/3835
1 c.368+29A>G r.(=) p.(=) g.13803712T>C Copied from the Exome Variant Server GPM6B_000031 13/10563 0/6728 13/3835
1 c.368+51T>C r.(=) p.(=) g.13803690A>G Copied from the Exome Variant Server GPM6B_000030 1/10563 0/6728 1/3835
1 c.369-46C>T r.(=) p.(=) g.13801686G>A Copied from the Exome Variant Server GPM6B_000029 4/10563 4/6728 0/3835
1 c.383A>G r.(?) p.(Gln128Arg) g.13801626T>C Copied from the Exome Variant Server GPM6B_000028 1/10563 1/6728 0/3835
1 c.525+15T>A r.(=) p.(=) g.13801469A>T Copied from the Exome Variant Server GPM6B_000027 1/10563 1/6728 0/3835
1 c.525+37C>G r.(=) p.(=) g.13801447G>C Copied from the Exome Variant Server GPM6B_000026 16/10563 15/6728 1/3835
1 c.526-15C>T r.(=) p.(=) g.13798123G>A Copied from the Exome Variant Server GPM6B_000025 8/10563 6/6728 2/3835
1 c.528C>T r.(=) p.(=) g.13798106G>A Copied from the Exome Variant Server GPM6B_000024 1/10563 0/6728 1/3835
1 c.696C>T r.(=) p.(=) g.13797938G>A Copied from the Exome Variant Server GPM6B_000023 107/10563 0/6728 107/3835
1 c.697+19C>T r.(=) p.(=) g.13797918G>A Copied from the Exome Variant Server GPM6B_000022 4/10563 4/6728 0/3835
1 c.697+48C>T r.(=) p.(=) g.13797889G>A Copied from the Exome Variant Server GPM6B_000021 2/10563 1/6728 1/3835
1 c.697+49G>C r.(=) p.(=) g.13797888C>G Copied from the Exome Variant Server GPM6B_000020 1/10563 0/6728 1/3835
1 c.698-48T>C r.(=) p.(=) g.13795592A>G Copied from the Exome Variant Server GPM6B_000019 12/10562 1/6727 11/3835
1 c.698-8T>C r.(=) p.(=) g.13795552A>G Copied from the Exome Variant Server GPM6B_000018 1/10563 1/6728 0/3835
1 c.723C>T r.(=) p.(=) g.13795519G>A Copied from the Exome Variant Server GPM6B_000017 3/10563 2/6728 1/3835
1 c.771+27C>G r.(=) p.(=) g.13795444G>C Copied from the Exome Variant Server GPM6B_000016 1/10563 0/6728 1/3835
1 c.771+37T>C r.(=) p.(=) g.13795434A>G Copied from the Exome Variant Server GPM6B_000015 1/10563 1/6728 0/3835
1 c.771+53G>T r.(=) p.(=) g.13795418C>A Copied from the Exome Variant Server GPM6B_000014 1/3600 0/2391 1/1209
1 c.771+57C>G r.(=) p.(=) g.13795414G>C Copied from the Exome Variant Server GPM6B_000013 3/3600 0/2391 3/1209
1 c.771+62A>G r.(=) p.(=) g.13795409T>C Copied from the Exome Variant Server GPM6B_000012 4/3600 0/2391 4/1209
1 c.772-24T>C r.(=) p.(=) g.13794446A>G Copied from the Exome Variant Server GPM6B_000011 1/10563 1/6728 0/3835
1 c.825C>T r.(=) p.(=) g.13794369G>A Copied from the Exome Variant Server GPM6B_000010 1/10563 0/6728 1/3835
1 c.831T>C r.(=) p.(=) g.13794363A>G Copied from the Exome Variant Server GPM6B_000009 276/10563 1/6728 275/3835
1 c.838-1560C>T r.(=) p.(=) g.13792709G>A Copied from the Exome Variant Server GPM6B_000008 1/10563 0/6728 1/3835
1 c.838-1559G>A r.(=) p.(=) g.13792708C>T Copied from the Exome Variant Server GPM6B_000007 3/10563 3/6728 0/3835
1 c.838-1554T>G r.(=) p.(=) g.13792703A>C Copied from the Exome Variant Server GPM6B_000006 1/10563 1/6728 0/3835
1 c.838-37del r.(=) p.(=) g.13791186del Copied from the Exome Variant Server GPM6B_000005 11/10205 0/6484 11/3721
1 c.953C>T r.(?) p.(Ser318Phe) g.13791034G>A Copied from the Exome Variant Server GPM6B_000004 1/10563 1/6728 0/3835
1 c.956G>A r.(?) p.(Arg319Gln) g.13791031C>T Copied from the Exome Variant Server GPM6B_000003 1/10563 1/6728 0/3835
1 c.971T>C r.(?) p.(Leu324Pro) g.13791016A>G Copied from the Exome Variant Server GPM6B_000002 1/10563 1/6728 0/3835
1 c.*1A>G r.(=) p.(=) g.13790999T>C Copied from the Exome Variant Server GPM6B_000001 1/10563 1/6728 0/3835
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