All transcript variants in gene ADAMTS4

Information The variants shown are described using the NM_005099.4 transcript reference sequence.

128 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-35C>T r.(=) p.(=) g.161168452G>A Copied from the Exome Variant Server ADAMTS4_000128 2/12772 1/8458 1/4314
?/? c.25G>A r.(?) p.(Gly9Arg) g.161168393C>T Copied from the Exome Variant Server ADAMTS4_000127 3/12684 2/8406 1/4278
?/? c.89C>T r.(?) p.(Pro30Leu) g.161168329G>A Copied from the Exome Variant Server ADAMTS4_000126 1/12828 1/8504 0/4324
?/? c.148C>T r.(?) p.(Arg50Trp) g.161168270G>A Copied from the Exome Variant Server ADAMTS4_000125 2/12546 2/8330 0/4216
?/? c.157_158insA r.(?) p.(Ser53Lysfs*65) g.161168260_161168261insT Copied from the Exome Variant Server ADAMTS4_000124 172/11878 115/7868 57/4010
?/? c.227G>A r.(?) p.(Gly76Asp) g.161168191C>T Copied from the Exome Variant Server ADAMTS4_000123 9/12862 0/8520 9/4342
?/? c.229G>A r.(?) p.(Ala77Thr) g.161168189C>T Copied from the Exome Variant Server ADAMTS4_000122 913/12900 831/8542 82/4358
?/? c.230C>T r.(?) p.(Ala77Val) g.161168188G>A Copied from the Exome Variant Server ADAMTS4_000121 4/12904 4/8544 0/4360
?/? c.250C>T r.(?) p.(Arg84Cys) g.161168168G>A Copied from the Exome Variant Server ADAMTS4_000120 2/12972 1/8580 1/4392
?/? c.251G>A r.(?) p.(Arg84His) g.161168167C>T Copied from the Exome Variant Server ADAMTS4_000119 1/12984 1/8586 0/4398
?/? c.271A>G r.(?) p.(Thr91Ala) g.161168147T>C Copied from the Exome Variant Server ADAMTS4_000118 54/13004 50/8598 4/4406
?/? c.283G>A r.(?) p.(Glu95Lys) g.161168135C>T Copied from the Exome Variant Server ADAMTS4_000117 8/13004 1/8600 7/4404
?/? c.298T>C r.(?) p.(Ser100Pro) g.161168120A>G Copied from the Exome Variant Server ADAMTS4_000116 8/13006 7/8600 1/4406
?/? c.313G>A r.(?) p.(Glu105Lys) g.161168105C>T Copied from the Exome Variant Server ADAMTS4_000115 4/13006 0/8600 4/4406
?/? c.316G>A r.(?) p.(Gly106Arg) g.161168102C>T Copied from the Exome Variant Server ADAMTS4_000114 1/13006 0/8600 1/4406
?/? c.390C>A r.(=) p.(=) g.161168028G>T Copied from the Exome Variant Server ADAMTS4_000113 3/13006 0/8600 3/4406
?/? c.414G>A r.(=) p.(=) g.161168004C>T Copied from the Exome Variant Server ADAMTS4_000112 3363/13006 1776/8600 1587/4406
?/? c.429C>T r.(=) p.(=) g.161167989G>A Copied from the Exome Variant Server ADAMTS4_000111 254/13006 229/8600 25/4406
?/? c.437G>A r.(?) p.(Gly146Glu) g.161167981C>T Copied from the Exome Variant Server ADAMTS4_000110 34/13006 31/8600 3/4406
?/? c.506C>T r.(?) p.(Thr169Ile) g.161167912G>A Copied from the Exome Variant Server ADAMTS4_000109 2/13006 2/8600 0/4406
?/? c.545G>A r.(?) p.(Arg182His) g.161167873C>T Copied from the Exome Variant Server ADAMTS4_000107 1/13006 0/8600 1/4406
?/? c.547C>T r.(?) p.(Arg183Trp) g.161167871G>A Copied from the Exome Variant Server ADAMTS4_000105 1/13006 0/8600 1/4406
?/? c.574C>T r.(?) p.(Pro192Ser) g.161167844G>A Copied from the Exome Variant Server ADAMTS4_000103 1/13006 1/8600 0/4406
?/? c.586G>A r.(?) p.(Val196Ile) g.161167832C>T Copied from the Exome Variant Server ADAMTS4_000102 1/13006 0/8600 1/4406
?/? c.633+28C>T r.(=) p.(=) g.161167757G>A Copied from the Exome Variant Server ADAMTS4_000108 2/13006 2/8600 0/4406
?/? c.633+29G>A r.(=) p.(=) g.161167756C>T Copied from the Exome Variant Server ADAMTS4_000106 1/13006 1/8600 0/4406
?/? c.633+37C>T r.(=) p.(=) g.161167748G>A Copied from the Exome Variant Server ADAMTS4_000104 1/13006 1/8600 0/4406
?/? c.633+39C>T r.(=) p.(=) g.161167746G>A Copied from the Exome Variant Server ADAMTS4_000101 2/13004 1/8598 1/4406
?/? c.694G>A r.(?) p.(Ala232Thr) g.161166610C>T Copied from the Exome Variant Server ADAMTS4_000100 4/13006 4/8600 0/4406
?/? c.708G>A r.(=) p.(=) g.161166596C>T Copied from the Exome Variant Server ADAMTS4_000099 1/13006 1/8600 0/4406
?/? c.718C>T r.(?) p.(Arg240Cys) g.161166586G>A Copied from the Exome Variant Server ADAMTS4_000098 1/13006 1/8600 0/4406
?/? c.719G>C r.(?) p.(Arg240Pro) g.161166585C>G Copied from the Exome Variant Server ADAMTS4_000097 1/13006 0/8600 1/4406
?/? c.783T>C r.(=) p.(=) g.161166521A>G Copied from the Exome Variant Server ADAMTS4_000095 1/13006 0/8600 1/4406
?/? c.855T>C r.(=) p.(=) g.161166449A>G Copied from the Exome Variant Server ADAMTS4_000093 1/13006 1/8600 0/4406
?/? c.889C>T r.(?) p.(Arg297Trp) g.161166415G>A Copied from the Exome Variant Server ADAMTS4_000091 1/13006 1/8600 0/4406
?/? c.915G>A r.(=) p.(=) g.161166389C>T Copied from the Exome Variant Server ADAMTS4_000089 1/13006 1/8600 0/4406
?/? c.922G>C r.(?) p.(Asp308His) g.161166382C>G Copied from the Exome Variant Server ADAMTS4_000087 5/13006 0/8600 5/4406
?/? c.957+9C>G r.(=) p.(=) g.161166338G>C Copied from the Exome Variant Server ADAMTS4_000085 143/13006 126/8600 17/4406
?/? c.957+14C>G r.(=) p.(=) g.161166333G>C Copied from the Exome Variant Server ADAMTS4_000083 1/13006 0/8600 1/4406
?/? c.957+31C>T r.(=) p.(=) g.161166316G>A Copied from the Exome Variant Server ADAMTS4_000081 2/13006 0/8600 2/4406
?/? c.957+32A>G r.(=) p.(=) g.161166315T>C Copied from the Exome Variant Server ADAMTS4_000079 1/13006 1/8600 0/4406
?/? c.958-12C>T r.(=) p.(=) g.161166105G>A Copied from the Exome Variant Server ADAMTS4_000077 1/13006 0/8600 1/4406
?/? c.1005G>A r.(=) p.(=) g.161166046C>T Copied from the Exome Variant Server ADAMTS4_000074 1/13006 0/8600 1/4406
?/? c.1011C>T r.(=) p.(=) g.161166040G>A Copied from the Exome Variant Server ADAMTS4_000072 1/13006 0/8600 1/4406
?/? c.1012G>A r.(?) p.(Val338Ile) g.161166039C>T Copied from the Exome Variant Server ADAMTS4_000070 1/13006 1/8600 0/4406
?/? c.1022C>T r.(?) p.(Pro341Leu) g.161166029G>A Copied from the Exome Variant Server ADAMTS4_000068 10/13006 9/8600 1/4406
?/? c.1028G>A r.(?) p.(Arg343Gln) g.161166023C>T Copied from the Exome Variant Server ADAMTS4_000065 2/13006 0/8600 2/4406
?/? c.1047G>A r.(=) p.(=) g.161166004C>T Copied from the Exome Variant Server ADAMTS4_000061 1/13006 1/8600 0/4406
?/? c.1090+38G>T r.(=) p.(=) g.161165923C>A Copied from the Exome Variant Server ADAMTS4_000059 1/13006 1/8600 0/4406
?/? c.1091-15C>T r.(=) p.(=) g.161165440G>A Copied from the Exome Variant Server ADAMTS4_000096 1/13006 0/8600 1/4406
?/? c.1092T>C r.(=) p.(=) g.161165424A>G Copied from the Exome Variant Server ADAMTS4_000094 211/13006 1/8600 210/4406
?/? c.1162C>T r.(?) p.(Arg388Cys) g.161165354G>A Copied from the Exome Variant Server ADAMTS4_000092 1/13006 0/8600 1/4406
?/? c.1163G>A r.(?) p.(Arg388His) g.161165353C>T Copied from the Exome Variant Server ADAMTS4_000090 2/13006 2/8600 0/4406
?/? c.1198C>G r.(?) p.(Pro400Ala) g.161165318G>C Copied from the Exome Variant Server ADAMTS4_000088 11/13006 0/8600 11/4406
?/? c.1217C>T r.(?) p.(Pro406Leu) g.161165299G>A Copied from the Exome Variant Server ADAMTS4_000086 1/13006 0/8600 1/4406
?/? c.1253A>G r.(?) p.(Asn418Ser) g.161165263T>C Copied from the Exome Variant Server ADAMTS4_000084 3/13006 3/8600 0/4406
?/? c.1261+10T>C r.(=) p.(=) g.161165245A>G Copied from the Exome Variant Server ADAMTS4_000082 1/13006 1/8600 0/4406
?/? c.1262-4C>T r.spl? p.? g.161164015G>A Copied from the Exome Variant Server ADAMTS4_000080 1/12842 1/8558 0/4284
?/? c.1340G>T r.(?) p.(Arg447Leu) g.161163933C>A Copied from the Exome Variant Server ADAMTS4_000078 4/13006 0/8600 4/4406
?/? c.1366G>A r.(?) p.(Asp456Asn) g.161163907C>T Copied from the Exome Variant Server ADAMTS4_000076 1/13006 0/8600 1/4406
?/? c.1372C>T r.(?) p.(Arg458Cys) g.161163901G>A Copied from the Exome Variant Server ADAMTS4_000075 2/13006 1/8600 1/4406
?/? c.1382C>T r.(?) p.(Pro461Leu) g.161163891G>A Copied from the Exome Variant Server ADAMTS4_000073 1/13006 0/8600 1/4406
?/? c.1383A>G r.(=) p.(=) g.161163890T>C Copied from the Exome Variant Server ADAMTS4_000071 3/13006 0/8600 3/4406
?/? c.1392G>A r.(=) p.(=) g.161163881C>T Copied from the Exome Variant Server ADAMTS4_000069 3/13004 1/8598 2/4406
?/? c.1395G>A r.(=) p.(=) g.161163878C>T Copied from the Exome Variant Server ADAMTS4_000067 1/13004 1/8598 0/4406
?/? c.1485C>T r.(=) p.(=) g.161163788G>A Copied from the Exome Variant Server ADAMTS4_000064 56/13004 47/8598 9/4406
?/? c.1487G>C r.(?) p.(Gly496Ala) g.161163786C>G Copied from the Exome Variant Server ADAMTS4_000062 2/13002 2/8596 0/4406
?/? c.1492G>A r.(?) p.(Ala498Thr) g.161163781C>T Copied from the Exome Variant Server ADAMTS4_000058 1/13004 1/8598 0/4406
?/? c.1519C>T r.(?) p.(Leu507Phe) g.161163754G>A Copied from the Exome Variant Server ADAMTS4_000056 2/12998 2/8596 0/4402
?/? c.1548+36G>A r.(=) p.(=) g.161163689C>T Copied from the Exome Variant Server ADAMTS4_000054 4/13004 0/8600 4/4404
?/? c.1548+40G>T r.(=) p.(=) g.161163685C>A Copied from the Exome Variant Server ADAMTS4_000052 7/13006 7/8600 0/4406
?/? c.1549-25C>T r.(=) p.(=) g.161163641G>A Copied from the Exome Variant Server ADAMTS4_000050 1/13006 1/8600 0/4406
?/? c.1549-17G>A r.(=) p.(=) g.161163633C>T Copied from the Exome Variant Server ADAMTS4_000048 7638/13006 5011/8600 2627/4406
?/? c.1684C>T r.(?) p.(Arg562Cys) g.161163481G>A Copied from the Exome Variant Server ADAMTS4_000046 1/13006 1/8600 0/4406
?/? c.1688G>A r.(?) p.(Arg563His) g.161163477C>T Copied from the Exome Variant Server ADAMTS4_000066 3/13006 1/8600 2/4406
?/? c.1699C>T r.(?) p.(Arg567Cys) g.161163466G>A Copied from the Exome Variant Server ADAMTS4_000063 60/13006 1/8600 59/4406
?/? c.1700G>A r.(?) p.(Arg567His) g.161163465C>T Copied from the Exome Variant Server ADAMTS4_000060 2/13006 2/8600 0/4406
?/? c.1709A>G r.(?) p.(Asn570Ser) g.161163456T>C Copied from the Exome Variant Server ADAMTS4_000057 3/13006 0/8600 3/4406
?/? c.1726A>G r.(?) p.(Thr576Ala) g.161163439T>C Copied from the Exome Variant Server ADAMTS4_000055 28/13006 21/8600 7/4406
?/? c.1735+16G>A r.(=) p.(=) g.161163414C>T Copied from the Exome Variant Server ADAMTS4_000053 1/13006 0/8600 1/4406
?/? c.1735+20G>A r.(=) p.(=) g.161163410C>T Copied from the Exome Variant Server ADAMTS4_000051 1/13006 1/8600 0/4406
?/? c.1736-41T>A r.(=) p.(=) g.161163219A>T Copied from the Exome Variant Server ADAMTS4_000049 3/13006 3/8600 0/4406
?/? c.1736-25G>A r.(=) p.(=) g.161163203C>T Copied from the Exome Variant Server ADAMTS4_000047 7/13006 7/8600 0/4406
?/? c.1743C>T r.(=) p.(=) g.161163171G>A Copied from the Exome Variant Server ADAMTS4_000045 1/13006 0/8600 1/4406
?/? c.1749C>G r.(=) p.(=) g.161163165G>C Copied from the Exome Variant Server ADAMTS4_000044 8/13006 8/8600 0/4406
?/? c.1756C>T r.(?) p.(Gln586*) g.161163158G>A Copied from the Exome Variant Server ADAMTS4_000043 1/13006 1/8600 0/4406
?/? c.1770C>T r.(=) p.(=) g.161163144G>A Copied from the Exome Variant Server ADAMTS4_000042 2/13006 0/8600 2/4406
?/? c.1802C>T r.(?) p.(Pro601Leu) g.161163112G>A Copied from the Exome Variant Server ADAMTS4_000041 1/13006 0/8600 1/4406
?/? c.1806G>A r.(=) p.(=) g.161163108C>T Copied from the Exome Variant Server ADAMTS4_000040 1/13006 1/8600 0/4406
?/? c.1826G>A r.(?) p.(Arg609His) g.161163088C>T Copied from the Exome Variant Server ADAMTS4_000039 3/13006 3/8600 0/4406
?/? c.1846C>T r.(?) p.(Gln616*) g.161163068G>A Copied from the Exome Variant Server ADAMTS4_000038 1/13006 0/8600 1/4406
?/? c.1868G>T r.(?) p.(Cys623Phe) g.161163046C>A Copied from the Exome Variant Server ADAMTS4_000037 1/13006 0/8600 1/4406
?/? c.1876C>T r.(?) p.(Gln626*) g.161163038G>A Copied from the Exome Variant Server ADAMTS4_000036 1/13006 0/8600 1/4406
?/? c.1877A>G r.(?) p.(Gln626Arg) g.161163037T>C Copied from the Exome Variant Server ADAMTS4_000035 7840/13006 5162/8600 2678/4406
?/? c.1910G>A r.(?) p.(Arg637Gln) g.161163004C>T Copied from the Exome Variant Server ADAMTS4_000034 2/13006 1/8600 1/4406
?/? c.1911+6G>T r.(=) p.(=) g.161162997C>A Copied from the Exome Variant Server ADAMTS4_000033 1/13006 0/8600 1/4406
?/? c.1912-52C>T r.(=) p.(=) g.161162082G>A Copied from the Exome Variant Server ADAMTS4_000032 1/7272 1/4618 0/2654
?/? c.1912-23A>G r.(=) p.(=) g.161162053T>C Copied from the Exome Variant Server ADAMTS4_000031 1/13006 0/8600 1/4406
?/? c.1938G>A r.(=) p.(=) g.161162004C>T Copied from the Exome Variant Server ADAMTS4_000030 1/13006 1/8600 0/4406
?/? c.1967G>A r.(?) p.(Arg656Gln) g.161161975C>T Copied from the Exome Variant Server ADAMTS4_000029 1/13006 0/8600 1/4406
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