All transcript variants in gene MMP13

Information The variants shown are described using the NM_002427.3 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.1A>G r.? p.? g.102826434T>C Copied from the Exome Variant Server MMP13_000098 1/13002 1/8598 0/4404
?/? c.52C>T r.(?) p.(Arg18Trp) g.102826383G>A Copied from the Exome Variant Server MMP13_000097 13/13002 12/8598 1/4404
?/? c.56C>T r.(?) p.(Ala19Val) g.102826379G>A Copied from the Exome Variant Server MMP13_000096 1/13002 0/8598 1/4404
?/? c.68C>T r.(?) p.(Pro23Leu) g.102826367G>A Copied from the Exome Variant Server MMP13_000095 1/13002 0/8598 1/4404
?/? c.71G>T r.(?) p.(Ser24Ile) g.102826364C>A Copied from the Exome Variant Server MMP13_000094 1/13002 1/8598 0/4404
?/? c.85G>C r.(?) p.(Asp29His) g.102826350C>G Copied from the Exome Variant Server MMP13_000093 1/13002 0/8598 1/4404
?/? c.91T>C r.(=) p.(=) g.102826344A>G Copied from the Exome Variant Server MMP13_000092 1/13002 1/8598 0/4404
?/? c.118G>A r.(?) p.(Glu40Lys) g.102826317C>T Copied from the Exome Variant Server MMP13_000091 1/13002 1/8598 0/4404
?/? c.190A>C r.(?) p.(Met64Leu) g.102826153T>G Copied from the Exome Variant Server MMP13_000090 9/13002 0/8598 9/4404
?/? c.211A>C r.(?) p.(Met71Leu) g.102826132T>G Copied from the Exome Variant Server MMP13_000089 1/13002 1/8598 0/4404
?/? c.225C>T r.(=) p.(=) g.102826118G>A Copied from the Exome Variant Server MMP13_000088 1/13002 1/8598 0/4404
?/? c.240T>C r.(=) p.(=) g.102826103A>G Copied from the Exome Variant Server MMP13_000087 1/13002 0/8598 1/4404
?/? c.244A>C r.(?) p.(Lys82Gln) g.102826099T>G Copied from the Exome Variant Server MMP13_000086 1/13002 1/8598 0/4404
?/? c.301G>T r.(?) p.(Val101Leu) g.102826042C>A Copied from the Exome Variant Server MMP13_000084 2/13002 2/8598 0/4404
?/? c.325C>T r.(?) p.(Arg109*) g.102826018G>A Copied from the Exome Variant Server MMP13_000082 1/13002 1/8598 0/4404
?/? c.355del r.(?) p.(Thr119Profs*5) g.102825988del Copied from the Exome Variant Server MMP13_000080 1/12518 1/8254 0/4264
?/? c.362+32G>A r.(=) p.(=) g.102825949C>T Copied from the Exome Variant Server MMP13_000078 8/13000 0/8596 8/4404
?/? c.363-44T>G r.(=) p.(=) g.102825379A>C Copied from the Exome Variant Server MMP13_000076 1/12976 0/8592 1/4384
?/? c.363-34del r.(=) p.(=) g.102825369del Copied from the Exome Variant Server MMP13_000074 1/12500 0/8250 1/4250
?/? c.363-24A>T r.(=) p.(=) g.102825359T>A Copied from the Exome Variant Server MMP13_000072 1/12996 1/8598 0/4398
?/? c.363-17C>G r.(=) p.(=) g.102825352G>C Copied from the Exome Variant Server MMP13_000070 50/13002 0/8598 50/4404
?/? c.438C>T r.(=) p.(=) g.102825260G>A Copied from the Exome Variant Server MMP13_000085 8/13002 2/8598 6/4404
?/? c.439G>A r.(?) p.(Asp147Asn) g.102825259C>T Copied from the Exome Variant Server MMP13_000083 1/13002 0/8598 1/4404
?/? c.443T>A r.(?) p.(Val148Glu) g.102825255A>T Copied from the Exome Variant Server MMP13_000081 1/13002 0/8598 1/4404
?/? c.448C>G r.(?) p.(Pro150Ala) g.102825250G>C Copied from the Exome Variant Server MMP13_000079 1/13002 1/8598 0/4404
?/? c.471C>T r.(=) p.(=) g.102825227G>A Copied from the Exome Variant Server MMP13_000077 2/13002 2/8598 0/4404
?/? c.472G>A r.(?) p.(Asp158Asn) g.102825226C>T Copied from the Exome Variant Server MMP13_000075 1/13002 0/8598 1/4404
?/? c.495C>G r.(?) p.(Ile165Met) g.102825203G>C Copied from the Exome Variant Server MMP13_000073 1/13002 0/8598 1/4404
?/? c.509A>C r.(?) p.(Lys170Thr) g.102825189T>G Copied from the Exome Variant Server MMP13_000071 2/13002 2/8598 0/4404
?/? c.511+23C>G r.(=) p.(=) g.102825164G>C Copied from the Exome Variant Server MMP13_000069 48/12998 0/8594 48/4404
?/? c.528C>T r.(=) p.(=) g.102824994G>A Copied from the Exome Variant Server MMP13_000068 1/13002 1/8598 0/4404
?/? c.593A>T r.(?) p.(Asp198Val) g.102824929T>A Copied from the Exome Variant Server MMP13_000067 1/13002 1/8598 0/4404
?/? c.619T>G r.(?) p.(Trp207Gly) g.102824903A>C Copied from the Exome Variant Server MMP13_000066 2/13002 2/8598 0/4404
?/? c.662C>T r.(?) p.(Ala221Val) g.102822878G>A Copied from the Exome Variant Server MMP13_000065 3/13002 0/8598 3/4404
?/? c.663G>A r.(=) p.(=) g.102822877C>T Copied from the Exome Variant Server MMP13_000064 5/13002 0/8598 5/4404
?/? c.678C>T r.(=) p.(=) g.102822862G>A Copied from the Exome Variant Server MMP13_000063 1/13002 1/8598 0/4404
?/? c.732C>T r.(=) p.(=) g.102822808G>A Copied from the Exome Variant Server MMP13_000062 1/13002 1/8598 0/4404
?/? c.756T>C r.(=) p.(=) g.102822784A>G Copied from the Exome Variant Server MMP13_000061 1/13002 1/8598 0/4404
?/? c.770A>T r.(?) p.(Asp257Val) g.102822770T>A Copied from the Exome Variant Server MMP13_000060 1/13002 1/8598 0/4404
?/? c.771C>T r.(=) p.(=) g.102822769G>A Copied from the Exome Variant Server MMP13_000059 1/13002 1/8598 0/4404
?/? c.795C>G r.(=) p.(=) g.102822745G>C Copied from the Exome Variant Server MMP13_000058 3/13002 3/8598 0/4404
?/? c.799+7C>T r.(=) p.(=) g.102822734G>A Copied from the Exome Variant Server MMP13_000057 46/13002 0/8598 46/4404
?/? c.799+8G>A r.(=) p.(=) g.102822733C>T Copied from the Exome Variant Server MMP13_000056 2170/13002 1408/8598 762/4404
?/? c.799+30C>A r.(=) p.(=) g.102822711G>T Copied from the Exome Variant Server MMP13_000055 10/13002 9/8598 1/4404
?/? c.800-28A>G r.(=) p.(=) g.102820984T>C Copied from the Exome Variant Server MMP13_000054 3/13002 0/8598 3/4404
?/? c.800-9C>T r.(=) p.(=) g.102820965G>A Copied from the Exome Variant Server MMP13_000053 468/13002 425/8598 43/4404
?/? c.800-8G>A r.(=) p.(=) g.102820964C>T Copied from the Exome Variant Server MMP13_000052 1/13002 1/8598 0/4404
?/? c.803C>A r.(?) p.(Pro268Gln) g.102820953G>T Copied from the Exome Variant Server MMP13_000051 2/13002 2/8598 0/4404
?/? c.804A>G r.(=) p.(=) g.102820952T>C Copied from the Exome Variant Server MMP13_000050 1/13002 0/8598 1/4404
?/? c.834A>G r.(=) p.(=) g.102820922T>C Copied from the Exome Variant Server MMP13_000049 1/13002 0/8598 1/4404
?/? c.842C>T r.(?) p.(Pro281Leu) g.102820914G>A Copied from the Exome Variant Server MMP13_000048 1/13002 0/8598 1/4404
?/? c.856C>A r.(?) p.(Pro286Thr) g.102820900G>T Copied from the Exome Variant Server MMP13_000047 7/13002 7/8598 0/4404
?/? c.917+29G>C r.(=) p.(=) g.102820810C>G Copied from the Exome Variant Server MMP13_000046 2/13002 1/8598 1/4404
?/? c.917+33G>A r.(=) p.(=) g.102820806C>T Copied from the Exome Variant Server MMP13_000045 1/13002 1/8598 0/4404
?/? c.917+34C>T r.(=) p.(=) g.102820805G>A Copied from the Exome Variant Server MMP13_000044 146/13002 4/8598 142/4404
?/? c.918-34T>C r.(=) p.(=) g.102819921A>G Copied from the Exome Variant Server MMP13_000043 1/13002 0/8598 1/4404
?/? c.918-29C>T r.(=) p.(=) g.102819916G>A Copied from the Exome Variant Server MMP13_000042 68/13002 18/8598 50/4404
?/? c.918-14_918-8del r.(=) p.(=) g.102819895_102819901del Copied from the Exome Variant Server MMP13_000041 1/12518 1/8254 0/4264
?/? c.930C>T r.(=) p.(=) g.102819875G>A Copied from the Exome Variant Server MMP13_000040 1/13002 1/8598 0/4404
?/? c.935A>G r.(?) p.(His312Arg) g.102819870T>C Copied from the Exome Variant Server MMP13_000039 5/13002 4/8598 1/4404
?/? c.951T>G r.(?) p.(Asp317Glu) g.102819854A>C Copied from the Exome Variant Server MMP13_000038 2/13002 2/8598 0/4404
?/? c.1051+12A>G r.(=) p.(=) g.102819742T>C Copied from the Exome Variant Server MMP13_000036 1/13002 1/8598 0/4404
?/? c.1051+13C>T r.(=) p.(=) g.102819741G>A Copied from the Exome Variant Server MMP13_000035 2/13002 2/8598 0/4404
?/? c.1051+18G>T r.(=) p.(=) g.102819736C>A Copied from the Exome Variant Server MMP13_000033 1/13002 1/8598 0/4404
?/? c.1051+38G>C r.(=) p.(=) g.102819716C>G Copied from the Exome Variant Server MMP13_000031 1/13002 1/8598 0/4404
?/? c.1051+46G>A r.(=) p.(=) g.102819708C>T Copied from the Exome Variant Server MMP13_000029 1/13002 0/8598 1/4404
?/? c.1060T>C r.(?) p.(Phe354Leu) g.102818771A>G Copied from the Exome Variant Server MMP13_000027 1/13002 1/8598 0/4404
?/? c.1066G>A r.(?) p.(Ala356Thr) g.102818765C>T Copied from the Exome Variant Server MMP13_000025 1/13002 0/8598 1/4404
?/? c.1080T>C r.(=) p.(=) g.102818751A>G Copied from the Exome Variant Server MMP13_000023 136/13002 0/8598 136/4404
?/? c.1082A>G r.(?) p.(Asp361Gly) g.102818749T>C Copied from the Exome Variant Server MMP13_000021 1/13002 1/8598 0/4404
?/? c.1117C>A r.(?) p.(Leu373Met) g.102818714G>T Copied from the Exome Variant Server MMP13_000019 7/13002 0/8598 7/4404
?/? c.1169A>G r.(?) p.(Asp390Gly) g.102818662T>C Copied from the Exome Variant Server MMP13_000037 76/13002 1/8598 75/4404
?/? c.1173A>G r.(=) p.(=) g.102818658T>C Copied from the Exome Variant Server MMP13_000034 3/13002 0/8598 3/4404
?/? c.1211G>A r.(?) p.(Arg404Lys) g.102818620C>T Copied from the Exome Variant Server MMP13_000032 1/13002 1/8598 0/4404
?/? c.1211+19C>T r.(=) p.(=) g.102818601G>A Copied from the Exome Variant Server MMP13_000030 2/13002 2/8598 0/4404
?/? c.1212-11_1212-10insT r.(=) p.(=) g.102816488_102816489insA Copied from the Exome Variant Server MMP13_000028 10/12500 4/8246 6/4254
?/? c.1212-1G>T r.spl? p.? g.102816479C>A Copied from the Exome Variant Server MMP13_000026 1/12994 1/8594 0/4400
?/? c.1214A>G r.(?) p.(Tyr405Cys) g.102816476T>C Copied from the Exome Variant Server MMP13_000024 1/12994 1/8594 0/4400
?/? c.1251G>A r.(=) p.(=) g.102816439C>T Copied from the Exome Variant Server MMP13_000022 1/13002 1/8598 0/4404
?/? c.1280T>C r.(?) p.(Ile427Thr) g.102816410A>G Copied from the Exome Variant Server MMP13_000020 1/12996 1/8592 0/4404
?/? c.1298C>T r.(?) p.(Ala433Val) g.102816392G>A Copied from the Exome Variant Server MMP13_000018 1/13000 0/8596 1/4404
?/? c.1315+2T>G r.spl? p.? g.102816373A>C Copied from the Exome Variant Server MMP13_000017 1/13000 0/8596 1/4404
?/? c.1315+15T>C r.(=) p.(=) g.102816360A>G Copied from the Exome Variant Server MMP13_000016 5/12998 0/8596 5/4402
?/? c.1315+19C>T r.(=) p.(=) g.102816356G>A Copied from the Exome Variant Server MMP13_000015 1090/12996 446/8596 644/4400
?/? c.1315+32G>C r.(=) p.(=) g.102816343C>G Copied from the Exome Variant Server MMP13_000014 623/12994 20/8594 603/4400
?/? c.1315+40_1315+50del r.(=) p.(=) g.102816325_102816335del Copied from the Exome Variant Server MMP13_000013 11/12508 9/8248 2/4260
?/? c.1316-39T>C r.(=) p.(=) g.102815134A>G Copied from the Exome Variant Server MMP13_000012 8/12994 0/8596 8/4398
?/? c.1316-19T>A r.(=) p.(=) g.102815114A>T Copied from the Exome Variant Server MMP13_000011 1/13002 0/8598 1/4404
?/? c.1316-14G>A r.(=) p.(=) g.102815109C>T Copied from the Exome Variant Server MMP13_000010 1/13002 1/8598 0/4404
?/? c.1316-8_1316-7insTT r.(=) p.(=) g.102815102_102815103insAA Copied from the Exome Variant Server MMP13_000009 14/12518 0/8254 14/4264
?/? c.1335C>T r.(=) p.(=) g.102815076G>A Copied from the Exome Variant Server MMP13_000008 11/13002 0/8598 11/4404
?/? c.1336G>A r.(?) p.(Gly446Arg) g.102815075C>T Copied from the Exome Variant Server MMP13_000007 2/13002 1/8598 1/4404
?/? c.1339C>T r.(?) p.(Pro447Ser) g.102815072G>A Copied from the Exome Variant Server MMP13_000006 1/13002 0/8598 1/4404
?/? c.1372C>T r.(?) p.(Arg458Cys) g.102815039G>A Copied from the Exome Variant Server MMP13_000005 13/13002 12/8598 1/4404
?/? c.1377T>G r.(?) p.(Ile459Met) g.102815034A>C Copied from the Exome Variant Server MMP13_000004 2/13002 1/8598 1/4404
?/? c.1383C>T r.(=) p.(=) g.102815028G>A Copied from the Exome Variant Server MMP13_000003 1/13002 1/8598 0/4404
?/? c.*1G>A r.(=) p.(=) g.102814994C>T Copied from the Exome Variant Server MMP13_000002 1/13002 1/8598 0/4404
?/? c.*13A>T r.(=) p.(=) g.102814982T>A Copied from the Exome Variant Server MMP13_000001 1/13002 1/8598 0/4404
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