Unique variants in gene MPP1

Information The variants shown are described using the NM_002436.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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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.37A>G r.(?) p.(Ser13Gly) g.154033612T>C Copied from the Exome Variant Server MPP1_000004 14/10560 0/6726 14/3834
1 c.47C>T r.(?) p.(Thr16Met) g.154033602G>A Copied from the Exome Variant Server MPP1_000003 7/10562 7/6728 0/3834
1 c.48G>C r.(=) p.(=) g.154033601C>G Copied from the Exome Variant Server MPP1_000002 1/10562 0/6728 1/3834
1 c.102+7G>A r.(=) p.(=) g.154033540C>T Copied from the Exome Variant Server MPP1_000001 1/10544 1/6719 0/3825
1 c.102+15C>G r.(=) p.(=) g.154033532G>C Copied from the Exome Variant Server MPP1_000063 5/10538 4/6712 1/3826
1 c.102+5620_102+5621insC r.(=) p.(=) g.154027926_154027927insG Copied from the Exome Variant Server MPP1_000062 458/5450 294/3392 164/2058
1 c.103-39C>G r.(=) p.(=) g.154020599G>C Copied from the Exome Variant Server MPP1_000061 2/10563 0/6728 2/3835
1 c.103-4G>A r.spl? p.? g.154020564C>T Copied from the Exome Variant Server MPP1_000060 97/10563 0/6728 97/3835
1 c.132C>T r.(=) p.(=) g.154020531G>A Copied from the Exome Variant Server MPP1_000078 1/10563 1/6728 0/3835
1 c.153G>A r.(=) p.(=) g.154020510C>T Copied from the Exome Variant Server MPP1_000077 2/10563 2/6728 0/3835
1 c.181G>T r.(?) p.(Val61Phe) g.154020482C>A Copied from the Exome Variant Server MPP1_000076 17/10563 0/6728 17/3835
1 c.200G>A r.(?) p.(Arg67Gln) g.154020463C>T Copied from the Exome Variant Server MPP1_000075 3/10563 3/6728 0/3835
1 c.202A>G r.(?) p.(Lys68Glu) g.154020461T>C Copied from the Exome Variant Server MPP1_000074 1/10563 1/6728 0/3835
1 c.246+10C>T r.(=) p.(=) g.154020407G>A Copied from the Exome Variant Server MPP1_000073 2/10563 1/6728 1/3835
1 c.246+39T>A r.(=) p.(=) g.154020378A>T Copied from the Exome Variant Server MPP1_000072 2/10563 2/6728 0/3835
1 c.246+39_246+40insCT r.(=) p.(=) g.154020377_154020378insAG Copied from the Exome Variant Server MPP1_000071 1/10205 0/6484 1/3721
1 c.247-16G>A r.(=) p.(=) g.154020138C>T Copied from the Exome Variant Server MPP1_000070 2/10563 0/6728 2/3835
1 c.247-13G>A r.(=) p.(=) g.154020135C>T Copied from the Exome Variant Server MPP1_000034 2/10563 0/6728 2/3835
1 c.255G>T r.(=) p.(=) g.154020114C>A Copied from the Exome Variant Server MPP1_000033 5839/10563 4861/6728 978/3835
1 c.285G>A r.(=) p.(=) g.154020084C>T Copied from the Exome Variant Server MPP1_000032 7/10563 7/6728 0/3835
1 c.289G>A r.(?) p.(Ala97Thr) g.154020080C>T Copied from the Exome Variant Server MPP1_000031 1/10563 1/6728 0/3835
1 c.325+22_325+23insT r.(=) p.(=) g.154020021_154020022insA Copied from the Exome Variant Server MPP1_000030 1/10205 1/6484 0/3721
1 c.326-24G>T r.(=) p.(=) g.154019367C>A Copied from the Exome Variant Server MPP1_000029 1/10563 1/6728 0/3835
1 c.326-6T>C r.(=) p.(=) g.154019349A>G Copied from the Exome Variant Server MPP1_000028 2/10563 1/6728 1/3835
1 c.336C>T r.(=) p.(=) g.154019333G>A Copied from the Exome Variant Server MPP1_000027 1/10563 1/6728 0/3835
1 c.411+29C>T r.(=) p.(=) g.154019229G>A Copied from the Exome Variant Server MPP1_000026 3/10563 3/6728 0/3835
1 c.411+33C>T r.(=) p.(=) g.154019225G>A Copied from the Exome Variant Server MPP1_000025 2/10563 0/6728 2/3835
1 c.411+44T>C r.(=) p.(=) g.154019214A>G Copied from the Exome Variant Server MPP1_000024 1/10563 1/6728 0/3835
1 c.412-14A>G r.(=) p.(=) g.154018311T>C Copied from the Exome Variant Server MPP1_000023 1/10563 0/6728 1/3835
1 c.420C>T r.(=) p.(=) g.154018289G>A Copied from the Exome Variant Server MPP1_000022 1/10563 0/6728 1/3835
1 c.480+22G>T r.(=) p.(=) g.154018207C>A Copied from the Exome Variant Server MPP1_000021 101/10563 3/6728 98/3835
1 c.493G>A r.(?) p.(Ala165Thr) g.154014663C>T Copied from the Exome Variant Server MPP1_000020 1/10563 1/6728 0/3835
1 c.522C>T r.(=) p.(=) g.154014634G>A Copied from the Exome Variant Server MPP1_000019 3/10563 3/6728 0/3835
1 c.527T>G r.(?) p.(Leu176Arg) g.154014629A>C Copied from the Exome Variant Server MPP1_000018 1/10563 1/6728 0/3835
1 c.546G>A r.(=) p.(=) g.154014610C>T Copied from the Exome Variant Server MPP1_000017 9/10563 6/6728 3/3835
1 c.593A>T r.(?) p.(Asp198Val) g.154014563T>A Copied from the Exome Variant Server MPP1_000016 1/10563 0/6728 1/3835
1 c.624A>G r.(=) p.(=) g.154014532T>C Copied from the Exome Variant Server MPP1_000015 2/10563 2/6728 0/3835
1 c.629C>T r.(?) p.(Ser210Phe) g.154014527G>A Copied from the Exome Variant Server MPP1_000014 9/10563 0/6728 9/3835
1 c.640T>A r.(?) p.(Ser214Thr) g.154014516A>T Copied from the Exome Variant Server MPP1_000013 4/10563 3/6728 1/3835
1 c.678-53_678-52insGG r.(=) p.(=) g.154013484_154013485insCC Copied from the Exome Variant Server MPP1_000012 970/9503 607/5971 363/3532
1 c.678-52del r.(=) p.(=) g.154013484del Copied from the Exome Variant Server MPP1_000011 126/9503 52/5971 74/3532
1 c.678-52dup r.(=) p.(=) g.154013484dup Copied from the Exome Variant Server MPP1_000010 3646/9503 3039/5971 607/3532
1 c.678-44G>T r.(=) p.(=) g.154013476C>A Copied from the Exome Variant Server MPP1_000069 8/10549 0/6719 8/3830
1 c.678-41G>A r.(=) p.(=) g.154013473C>T Copied from the Exome Variant Server MPP1_000068 1/10552 1/6721 0/3831
1 c.678-30G>T r.(=) p.(=) g.154013462C>A Copied from the Exome Variant Server MPP1_000059 12/10562 0/6728 12/3834
1 c.678-18A>G r.(=) p.(=) g.154013450T>C Copied from the Exome Variant Server MPP1_000058 1/10562 1/6727 0/3835
1 c.682G>A r.(?) p.(Val228Met) g.154013428C>T Copied from the Exome Variant Server MPP1_000057 1/10563 1/6728 0/3835
1 c.711C>T r.(=) p.(=) g.154013399G>A Copied from the Exome Variant Server MPP1_000056 1/10563 1/6728 0/3835
1 c.712G>A r.(?) p.(Glu238Lys) g.154013398C>T Copied from the Exome Variant Server MPP1_000055 1/10563 0/6728 1/3835
1 c.759C>A r.(?) p.(Asp253Glu) g.154013351G>T Copied from the Exome Variant Server MPP1_000054 1/10563 1/6728 0/3835
1 c.785-37C>A r.(=) p.(=) g.154012420G>T Copied from the Exome Variant Server MPP1_000053 5/10562 3/6727 2/3835
1 c.785-25A>G r.(=) p.(=) g.154012408T>C Copied from the Exome Variant Server MPP1_000052 1/10563 0/6728 1/3835
1 c.813C>T r.(=) p.(=) g.154012355G>A Copied from the Exome Variant Server MPP1_000051 1/10563 1/6728 0/3835
1 c.822C>T r.(=) p.(=) g.154012346G>A Copied from the Exome Variant Server MPP1_000050 3/10563 3/6728 0/3835
1 c.823G>A r.(?) p.(Val275Ile) g.154012345C>T Copied from the Exome Variant Server MPP1_000049 1/10563 0/6728 1/3835
1 c.866-59G>A r.(=) p.(=) g.154011841C>T Copied from the Exome Variant Server MPP1_000048 1/3600 1/2391 0/1209
1 c.866-47C>T r.(=) p.(=) g.154011829G>A Copied from the Exome Variant Server MPP1_000047 2/10561 1/6726 1/3835
1 c.866-34C>G r.(=) p.(=) g.154011816G>C Copied from the Exome Variant Server MPP1_000046 3/10562 3/6727 0/3835
1 c.872G>A r.(?) p.(Ser291Asn) g.154011776C>T Copied from the Exome Variant Server MPP1_000045 1/10563 0/6728 1/3835
1 c.911G>A r.(?) p.(Ser304Asn) g.154011737C>T Copied from the Exome Variant Server MPP1_000044 1/10563 1/6728 0/3835
1 c.922G>A r.(?) p.(Glu308Lys) g.154011726C>T Copied from the Exome Variant Server MPP1_000043 1/10563 0/6728 1/3835
1 c.947-51T>C r.(=) p.(=) g.154010128A>G Copied from the Exome Variant Server MPP1_000042 3/10563 0/6728 3/3835
1 c.954A>G r.(=) p.(=) g.154010070T>C Copied from the Exome Variant Server MPP1_000041 1/10563 0/6728 1/3835
1 c.960G>A r.(=) p.(=) g.154010064C>T Copied from the Exome Variant Server MPP1_000040 2/10563 1/6728 1/3835
1 c.1007C>T r.(?) p.(Thr336Met) g.154010017G>A Copied from the Exome Variant Server MPP1_000039 1/10563 1/6728 0/3835
1 c.1008G>A r.(=) p.(=) g.154010016C>T Copied from the Exome Variant Server MPP1_000038 1/10563 0/6728 1/3835
1 c.1101C>T r.(=) p.(=) g.154009923G>A Copied from the Exome Variant Server MPP1_000037 1/10563 1/6728 0/3835
1 c.1149+27A>G r.(=) p.(=) g.154009848T>C Copied from the Exome Variant Server MPP1_000036 1/10563 1/6728 0/3835
1 c.1150-24G>A r.(=) p.(=) g.154009612C>T Copied from the Exome Variant Server MPP1_000035 1/10560 1/6725 0/3835
1 c.1150-23C>T r.(=) p.(=) g.154009611G>A Copied from the Exome Variant Server MPP1_000067 1/10561 1/6726 0/3835
1 c.1166G>A r.(?) p.(Arg389Gln) g.154009572C>T Copied from the Exome Variant Server MPP1_000066 3/10563 1/6728 2/3835
1 c.1182G>A r.(=) p.(=) g.154009556C>T Copied from the Exome Variant Server MPP1_000065 1/10563 1/6728 0/3835
1 c.1224+6G>A r.(=) p.(=) g.154009508C>T Copied from the Exome Variant Server MPP1_000064 1/10563 0/6728 1/3835
1 c.1224+18G>A r.(=) p.(=) g.154009496C>T Copied from the Exome Variant Server MPP1_000009 6/10563 6/6728 0/3835
1 c.1224+20G>A r.(=) p.(=) g.154009494C>T Copied from the Exome Variant Server MPP1_000008 1/10563 0/6728 1/3835
1 c.1224+31C>A r.(=) p.(=) g.154009483G>T Copied from the Exome Variant Server MPP1_000007 1/10563 1/6728 0/3835
1 c.1297T>C r.(?) p.(Ser433Pro) g.154007556A>G Copied from the Exome Variant Server MPP1_000006 1/10563 1/6728 0/3835
1 c.*39A>C r.(=) p.(=) g.154007413T>G Copied from the Exome Variant Server MPP1_000005 3/10563 0/6728 3/3835
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