All transcript variants in gene MMP7

Information The variants shown are described using the NM_002423.3 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-26A>G r.(=) p.(=) g.102401457T>C Copied from the Exome Variant Server MMP7_000084 1/13004 1/8598 0/4406
?/? c.-20A>G r.(=) p.(=) g.102401451T>C Copied from the Exome Variant Server MMP7_000083 1/13004 1/8598 0/4406
?/? c.-7G>A r.(=) p.(=) g.102401438C>T Copied from the Exome Variant Server MMP7_000082 1/13004 1/8598 0/4406
?/? c.-6del r.(=) p.(=) g.102401437del Copied from the Exome Variant Server MMP7_000081 11/12518 10/8254 1/4264
?/? c.1A>G r.? p.? g.102401431T>C Copied from the Exome Variant Server MMP7_000079 1/13004 0/8598 1/4406
?/? c.5G>A r.(?) p.(Arg2Gln) g.102401427C>T Copied from the Exome Variant Server MMP7_000077 1/13004 1/8598 0/4406
?/? c.12C>T r.(=) p.(=) g.102401420G>A Copied from the Exome Variant Server MMP7_000075 1/13004 1/8598 0/4406
?/? c.21T>G r.(?) p.(Cys7Trp) g.102401411A>C Copied from the Exome Variant Server MMP7_000073 180/13004 170/8598 10/4406
?/? c.28_29del r.(?) p.(Cys10Profs*19) g.102401403_102401404del Copied from the Exome Variant Server MMP7_000071 1/12518 1/8254 0/4264
?/? c.55C>T r.(?) p.(Pro19Ser) g.102401377G>A Copied from the Exome Variant Server MMP7_000069 2/13004 2/8598 0/4406
?/? c.67G>A r.(?) p.(Glu23Lys) g.102401365C>T Copied from the Exome Variant Server MMP7_000067 2/13004 0/8598 2/4406
?/? c.92A>G r.(?) p.(Gln31Arg) g.102401340T>C Copied from the Exome Variant Server MMP7_000065 1/13004 1/8598 0/4406
?/? c.97G>A r.(?) p.(Glu33Lys) g.102401335C>T Copied from the Exome Variant Server MMP7_000064 2/13004 1/8598 1/4406
?/? c.108+14C>T r.(=) p.(=) g.102401310G>A Copied from the Exome Variant Server MMP7_000062 1/13002 0/8598 1/4404
?/? c.108+25G>T r.(=) p.(=) g.102401299C>A Copied from the Exome Variant Server MMP7_000060 1/13000 1/8598 0/4402
?/? c.109-26T>C r.(=) p.(=) g.102398740A>G Copied from the Exome Variant Server MMP7_000058 1/12866 1/8528 0/4338
?/? c.109-31_109-25del r.(=) p.(=) g.102398739_102398745del Copied from the Exome Variant Server MMP7_000056 1/12388 1/8190 0/4198
?/? c.109-15C>T r.(=) p.(=) g.102398729G>A Copied from the Exome Variant Server MMP7_000054 158/12956 145/8568 13/4388
?/? c.110A>T r.(?) p.(Asp37Val) g.102398713T>A Copied from the Exome Variant Server MMP7_000051 1/12996 0/8592 1/4404
?/? c.151A>C r.(?) p.(Asn51His) g.102398672T>G Copied from the Exome Variant Server MMP7_000049 83/13004 1/8598 82/4406
?/? c.175C>T r.(?) p.(Leu59Phe) g.102398648G>A Copied from the Exome Variant Server MMP7_000085 1/13004 1/8598 0/4406
?/? c.189A>G r.(=) p.(=) g.102398634T>C Copied from the Exome Variant Server MMP7_000043 12/13002 0/8596 12/4406
?/? c.219G>A r.(?) p.(Met73Ile) g.102398604C>T Copied from the Exome Variant Server MMP7_000040 3/13004 0/8598 3/4406
?/? c.225C>A r.(?) p.(Asn75Lys) g.102398598G>T Copied from the Exome Variant Server MMP7_000037 1/13004 0/8598 1/4406
?/? c.230G>A r.(?) p.(Arg77His) g.102398593C>T Copied from the Exome Variant Server MMP7_000080 2087/13004 1884/8598 203/4406
?/? c.231C>T r.(=) p.(=) g.102398592G>A Copied from the Exome Variant Server MMP7_000078 143/13004 2/8598 141/4406
?/? c.232G>A r.(?) p.(Val78Ile) g.102398591C>T Copied from the Exome Variant Server MMP7_000076 1/13004 1/8598 0/4406
?/? c.252G>A r.(=) p.(=) g.102398571C>T Copied from the Exome Variant Server MMP7_000074 1/13004 0/8598 1/4406
?/? c.285C>T r.(=) p.(=) g.102398538G>A Copied from the Exome Variant Server MMP7_000072 17/13004 0/8598 17/4406
?/? c.303C>T r.(=) p.(=) g.102398520G>A Copied from the Exome Variant Server MMP7_000070 1/13004 0/8598 1/4406
?/? c.324G>A r.(=) p.(=) g.102398499C>T Copied from the Exome Variant Server MMP7_000068 1/13004 0/8598 1/4406
?/? c.335+32A>G r.(=) p.(=) g.102398456T>C Copied from the Exome Variant Server MMP7_000066 1/13004 1/8598 0/4406
?/? c.336-34_336-33insA r.(=) p.(=) g.102398436_102398437insT Copied from the Exome Variant Server MMP7_000063 2027/12518 1819/8254 208/4264
?/? c.336-31_336-30insA r.(=) p.(=) g.102398433_102398434insT Copied from the Exome Variant Server MMP7_000061 2026/12518 1819/8254 207/4264
?/? c.336-21T>C r.(=) p.(=) g.102398424A>G Copied from the Exome Variant Server MMP7_000059 34/13004 0/8598 34/4406
?/? c.336-20G>A r.(=) p.(=) g.102398423C>T Copied from the Exome Variant Server MMP7_000057 2/13004 2/8598 0/4406
?/? c.339C>T r.(=) p.(=) g.102398400G>A Copied from the Exome Variant Server MMP7_000055 13/13004 0/8598 13/4406
?/? c.348T>C r.(=) p.(=) g.102398391A>G Copied from the Exome Variant Server MMP7_000053 14/13004 0/8598 14/4406
?/? c.363G>A r.(=) p.(=) g.102398376C>T Copied from the Exome Variant Server MMP7_000050 17/13004 1/8598 16/4406
?/? c.380G>A r.(?) p.(Arg127Gln) g.102398359C>T Copied from the Exome Variant Server MMP7_000047 1/13004 0/8598 1/4406
?/? c.410G>A r.(?) p.(Gly137Asp) g.102398329C>T Copied from the Exome Variant Server MMP7_000046 5/13004 1/8598 4/4406
?/? c.417G>C r.(?) p.(Glu139Asp) g.102398322C>G Copied from the Exome Variant Server MMP7_000044 8/13004 0/8598 8/4406
?/? c.427C>T r.(?) p.(His143Tyr) g.102398312G>A Copied from the Exome Variant Server MMP7_000041 2/13004 2/8598 0/4406
?/? c.436A>G r.(?) p.(Lys146Glu) g.102398303T>C Copied from the Exome Variant Server MMP7_000038 1/13004 1/8598 0/4406
?/? c.456T>C r.(=) p.(=) g.102398283A>G Copied from the Exome Variant Server MMP7_000036 1/13004 1/8598 0/4406
?/? c.462_464del r.(?) p.(Ile154del) g.102398275_102398277del Copied from the Exome Variant Server MMP7_000033 2/12518 2/8254 0/4264
?/? c.470G>A r.(?) p.(Gly157Asp) g.102398269C>T Copied from the Exome Variant Server MMP7_000030 1/13004 1/8598 0/4406
?/? c.476C>T r.(?) p.(Ala159Val) g.102398263G>A Copied from the Exome Variant Server MMP7_000028 1/13004 1/8598 0/4406
?/? c.478C>T r.(?) p.(Arg160*) g.102398261G>A Copied from the Exome Variant Server MMP7_000026 1/13004 0/8598 1/4406
?/? c.484+9G>A r.(=) p.(=) g.102398246C>T Copied from the Exome Variant Server MMP7_000052 1/13004 0/8598 1/4406
?/? c.484+40T>C r.(=) p.(=) g.102398215A>G Copied from the Exome Variant Server MMP7_000048 4/13004 4/8598 0/4406
?/? c.485-38del r.(=) p.(=) g.102395833del Copied from the Exome Variant Server MMP7_000045 158/12518 48/8254 110/4264
?/? c.485-38dup r.(=) p.(=) g.102395833dup Copied from the Exome Variant Server MMP7_000042 61/12518 43/8254 18/4264
?/? c.485-38_485-37del r.(=) p.(=) g.102395832_102395833del Copied from the Exome Variant Server MMP7_000039 1/12518 1/8254 0/4264
?/? c.485-23A>G r.(=) p.(=) g.102395818T>C Copied from the Exome Variant Server MMP7_000035 1/13004 1/8598 0/4406
?/? c.513G>T r.(=) p.(=) g.102395767C>A Copied from the Exome Variant Server MMP7_000034 1/13004 1/8598 0/4406
?/? c.533A>G r.(?) p.(His178Arg) g.102395747T>C Copied from the Exome Variant Server MMP7_000032 1/13004 0/8598 1/4406
?/? c.543G>A r.(=) p.(=) g.102395737C>T Copied from the Exome Variant Server MMP7_000031 2/13004 1/8598 1/4406
?/? c.556C>T r.(?) p.(Leu186Phe) g.102395724G>A Copied from the Exome Variant Server MMP7_000029 2/13004 1/8598 1/4406
?/? c.559G>A r.(?) p.(Gly187Arg) g.102395721C>T Copied from the Exome Variant Server MMP7_000027 1/13004 0/8598 1/4406
?/? c.567T>G r.(?) p.(Asp189Glu) g.102395713A>C Copied from the Exome Variant Server MMP7_000025 20/13004 0/8598 20/4406
?/? c.596C>T r.(?) p.(Thr199Met) g.102395684G>A Copied from the Exome Variant Server MMP7_000024 2/13004 1/8598 1/4406
?/? c.613+3A>G r.spl? p.? g.102395664T>C Copied from the Exome Variant Server MMP7_000023 5/13004 5/8598 0/4406
?/? c.613+6G>A r.(=) p.(=) g.102395661C>T Copied from the Exome Variant Server MMP7_000022 101/13004 67/8598 34/4406
?/? c.613+7C>T r.(=) p.(=) g.102395660G>A Copied from the Exome Variant Server MMP7_000021 101/13004 68/8598 33/4406
?/? c.613+10C>T r.(=) p.(=) g.102395657G>A Copied from the Exome Variant Server MMP7_000020 13/13004 0/8598 13/4406
?/? c.613+25C>T r.(=) p.(=) g.102395642G>A Copied from the Exome Variant Server MMP7_000019 1/13004 1/8598 0/4406
?/? c.613+35G>A r.(=) p.(=) g.102395632C>T Copied from the Exome Variant Server MMP7_000018 225/13004 1/8598 224/4406
?/? c.614-20T>A r.(=) p.(=) g.102394152A>T Copied from the Exome Variant Server MMP7_000017 1/13004 1/8598 0/4406
?/? c.614-9C>T r.(=) p.(=) g.102394141G>A Copied from the Exome Variant Server MMP7_000016 1/13004 0/8598 1/4406
?/? c.635C>T r.(?) p.(Ala212Val) g.102394111G>A Copied from the Exome Variant Server MMP7_000015 2/13004 0/8598 2/4406
?/? c.639T>A r.(=) p.(=) g.102394107A>T Copied from the Exome Variant Server MMP7_000014 1/13004 1/8598 0/4406
?/? c.651C>T r.(=) p.(=) g.102394095G>A Copied from the Exome Variant Server MMP7_000013 3/13004 2/8598 1/4406
?/? c.665T>C r.(?) p.(Met222Thr) g.102394081A>G Copied from the Exome Variant Server MMP7_000012 1/13004 0/8598 1/4406
?/? c.720T>A r.(?) p.(Asp240Glu) g.102394026A>T Copied from the Exome Variant Server MMP7_000011 1/13004 1/8598 0/4406
?/? c.722C>T r.(?) p.(Pro241Leu) g.102394024G>A Copied from the Exome Variant Server MMP7_000010 174/13004 1/8598 173/4406
?/? c.730T>G r.(?) p.(Phe244Val) g.102394016A>C Copied from the Exome Variant Server MMP7_000009 1/13004 1/8598 0/4406
?/? c.775+33C>T r.(=) p.(=) g.102393938G>A Copied from the Exome Variant Server MMP7_000008 60/12982 1/8588 59/4394
?/? c.776-34C>T r.(=) p.(=) g.102391569G>A Copied from the Exome Variant Server MMP7_000007 2/12988 2/8596 0/4392
?/? c.776-20C>G r.(=) p.(=) g.102391555G>C Copied from the Exome Variant Server MMP7_000006 3/12988 2/8594 1/4394
?/? c.776-11del r.(=) p.(=) g.102391546del Copied from the Exome Variant Server MMP7_000005 67/12490 33/8244 34/4246
?/? c.776-11dup r.(=) p.(=) g.102391546dup Copied from the Exome Variant Server MMP7_000004 37/12490 22/8244 15/4246
?/? c.776-1G>A r.spl? p.? g.102391536C>T Copied from the Exome Variant Server MMP7_000003 1/12988 1/8594 0/4394
?/? c.795A>G r.(=) p.(=) g.102391516T>C Copied from the Exome Variant Server MMP7_000002 2/12992 2/8594 0/4398
?/? c.*82C>T r.(=) p.(=) g.102391425G>A Copied from the Exome Variant Server MMP7_000001 692/4566 634/3182 58/1384
Legend