All transcript variants in gene ENTHD1

Information The variants shown are described using the NM_152512.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-12C>T r.(=) p.(=) g.40283764G>A Copied from the Exome Variant Server ENTHD1_000077 1/13004 0/8598 1/4406
?/? c.6G>C r.(=) p.(=) g.40283747C>G Copied from the Exome Variant Server ENTHD1_000076 1/13006 1/8600 0/4406
?/? c.19G>A r.(?) p.(Val7Met) g.40283734C>T Copied from the Exome Variant Server ENTHD1_000075 2/13006 2/8600 0/4406
?/? c.79A>C r.(?) p.(Asn27His) g.40283674T>G Copied from the Exome Variant Server ENTHD1_000074 1/13006 1/8600 0/4406
?/? c.81C>T r.(=) p.(=) g.40283672G>A Copied from the Exome Variant Server ENTHD1_000073 5/13006 5/8600 0/4406
?/? c.82G>A r.(?) p.(Asp28Asn) g.40283671C>T Copied from the Exome Variant Server ENTHD1_000072 1/13006 1/8600 0/4406
?/? c.92G>A r.(?) p.(Gly31Asp) g.40283661C>T Copied from the Exome Variant Server ENTHD1_000071 1/13006 1/8600 0/4406
?/? c.96C>T r.(=) p.(=) g.40283657G>A Copied from the Exome Variant Server ENTHD1_000070 22/13006 0/8600 22/4406
?/? c.116A>G r.(?) p.(Asp39Gly) g.40283637T>C Copied from the Exome Variant Server ENTHD1_000069 1/13006 1/8600 0/4406
?/? c.192T>C r.(=) p.(=) g.40283561A>G Copied from the Exome Variant Server ENTHD1_000068 161/13006 1/8600 160/4406
?/? c.297C>A r.(?) p.(Asn99Lys) g.40283456G>T Copied from the Exome Variant Server ENTHD1_000067 1/13006 1/8600 0/4406
?/? c.326T>C r.(?) p.(Ile109Thr) g.40283427A>G Copied from the Exome Variant Server ENTHD1_000066 476/13006 416/8600 60/4406
?/? c.349+47C>T r.(=) p.(=) g.40283357G>A Copied from the Exome Variant Server ENTHD1_000065 2/13006 2/8600 0/4406
?/? c.357T>C r.(=) p.(=) g.40258005A>G Copied from the Exome Variant Server ENTHD1_000064 89/13006 1/8600 88/4406
?/? c.378A>G r.(=) p.(=) g.40257984T>C Copied from the Exome Variant Server ENTHD1_000063 1/13006 1/8600 0/4406
?/? c.422G>T r.(?) p.(Arg141Met) g.40257940C>A Copied from the Exome Variant Server ENTHD1_000062 2/13006 0/8600 2/4406
?/? c.437G>A r.(?) p.(Arg146Gln) g.40257925C>T Copied from the Exome Variant Server ENTHD1_000061 1/13006 0/8600 1/4406
?/? c.466T>C r.(=) p.(=) g.40257896A>G Copied from the Exome Variant Server ENTHD1_000060 1/13006 0/8600 1/4406
?/? c.467T>G r.(?) p.(Leu156Trp) g.40257895A>C Copied from the Exome Variant Server ENTHD1_000059 2/13006 1/8600 1/4406
?/? c.475A>G r.(?) p.(Lys159Glu) g.40257887T>C Copied from the Exome Variant Server ENTHD1_000058 20/13006 0/8600 20/4406
?/? c.511T>C r.(?) p.(Cys171Arg) g.40257851A>G Copied from the Exome Variant Server ENTHD1_000057 1/13006 1/8600 0/4406
?/? c.528A>C r.(=) p.(=) g.40257834T>G Copied from the Exome Variant Server ENTHD1_000056 6/13006 5/8600 1/4406
?/? c.530C>T r.(?) p.(Pro177Leu) g.40257832G>A Copied from the Exome Variant Server ENTHD1_000055 1/13006 1/8600 0/4406
?/? c.533A>T r.(?) p.(Asp178Val) g.40257829T>A Copied from the Exome Variant Server ENTHD1_000054 2/13006 0/8600 2/4406
?/? c.558T>C r.(=) p.(=) g.40257804A>G Copied from the Exome Variant Server ENTHD1_000053 2/13006 0/8600 2/4406
?/? c.579G>C r.(?) p.(Arg193Ser) g.40257783C>G Copied from the Exome Variant Server ENTHD1_000052 1/13006 0/8600 1/4406
?/? c.591A>T r.(?) p.(Lys197Asn) g.40257771T>A Copied from the Exome Variant Server ENTHD1_000051 1/13006 0/8600 1/4406
?/? c.592+3A>G r.spl? p.? g.40257767T>C Copied from the Exome Variant Server ENTHD1_000050 1/13006 1/8600 0/4406
?/? c.592+17T>C r.(=) p.(=) g.40257753A>G Copied from the Exome Variant Server ENTHD1_000049 1/13006 1/8600 0/4406
?/? c.592+42T>C r.(=) p.(=) g.40257728A>G Copied from the Exome Variant Server ENTHD1_000048 2/12974 0/8584 2/4390
?/? c.593-23C>G r.(=) p.(=) g.40231986G>C Copied from the Exome Variant Server ENTHD1_000047 3/13006 1/8600 2/4406
?/? c.615G>A r.(=) p.(=) g.40231941C>T Copied from the Exome Variant Server ENTHD1_000046 1/13006 0/8600 1/4406
?/? c.640C>T r.(?) p.(His214Tyr) g.40231916G>A Copied from the Exome Variant Server ENTHD1_000045 1/13006 0/8600 1/4406
?/? c.696T>C r.(=) p.(=) g.40231860A>G Copied from the Exome Variant Server ENTHD1_000044 2/13006 1/8600 1/4406
?/? c.711+6T>C r.(=) p.(=) g.40231839A>G Copied from the Exome Variant Server ENTHD1_000043 76/13006 3/8600 73/4406
?/? c.711+40T>C r.(=) p.(=) g.40231805A>G Copied from the Exome Variant Server ENTHD1_000042 1/13006 0/8600 1/4406
?/? c.711+42C>T r.(=) p.(=) g.40231803G>A Copied from the Exome Variant Server ENTHD1_000041 2/13006 2/8600 0/4406
?/? c.716T>C r.(?) p.(Leu239Pro) g.40217114A>G Copied from the Exome Variant Server ENTHD1_000040 30/13006 0/8600 30/4406
?/? c.752T>C r.(?) p.(Leu251Ser) g.40217078A>G Copied from the Exome Variant Server ENTHD1_000039 1/13006 0/8600 1/4406
?/? c.807A>C r.(?) p.(Glu269Asp) g.40217023T>G Copied from the Exome Variant Server ENTHD1_000038 2/13006 0/8600 2/4406
?/? c.809_811del r.(?) p.(Glu270del) g.40217019_40217021del Copied from the Exome Variant Server ENTHD1_000037 229/12518 164/8254 65/4264
?/? c.832+8G>T r.(=) p.(=) g.40216990C>A Copied from the Exome Variant Server ENTHD1_000036 1/13006 0/8600 1/4406
?/? c.832+20G>A r.(=) p.(=) g.40216978C>T Copied from the Exome Variant Server ENTHD1_000035 1/13006 1/8600 0/4406
?/? c.833-10T>G r.(=) p.(=) g.40161624A>C Copied from the Exome Variant Server ENTHD1_000034 1/12902 1/8552 0/4350
?/? c.849C>A r.(=) p.(=) g.40161598G>T Copied from the Exome Variant Server ENTHD1_000033 74/12992 68/8596 6/4396
?/? c.875G>C r.(?) p.(Arg292Thr) g.40161572C>G Copied from the Exome Variant Server ENTHD1_000032 2/12998 0/8596 2/4402
?/? c.889G>T r.(?) p.(Asp297Tyr) g.40161558C>A Copied from the Exome Variant Server ENTHD1_000031 1/13002 0/8596 1/4406
?/? c.957G>A r.(=) p.(=) g.40161490C>T Copied from the Exome Variant Server ENTHD1_000030 4/13006 4/8600 0/4406
?/? c.1008G>C r.(?) p.(Trp336Cys) g.40161439C>G Copied from the Exome Variant Server ENTHD1_000029 2/13006 0/8600 2/4406
?/? c.1036G>A r.(?) p.(Asp346Asn) g.40161411C>T Copied from the Exome Variant Server ENTHD1_000028 2/13006 2/8600 0/4406
?/? c.1042A>G r.(?) p.(Arg348Gly) g.40161405T>C Copied from the Exome Variant Server ENTHD1_000027 1/13006 1/8600 0/4406
?/? c.1054T>G r.(?) p.(Ser352Ala) g.40161393A>C Copied from the Exome Variant Server ENTHD1_000026 1/13006 1/8600 0/4406
?/? c.1104_1105del r.(?) p.(Pro369Leufs*6) g.40161342_40161343del Copied from the Exome Variant Server ENTHD1_000025 69/12514 62/8250 7/4264
?/? c.1126C>T r.(?) p.(Arg376*) g.40161321G>A Copied from the Exome Variant Server ENTHD1_000024 1/13006 1/8600 0/4406
?/? c.1142T>C r.(?) p.(Val381Ala) g.40161305A>G Copied from the Exome Variant Server ENTHD1_000023 5/13006 0/8600 5/4406
?/? c.1165C>G r.(?) p.(Pro389Ala) g.40161282G>C Copied from the Exome Variant Server ENTHD1_000022 1/13006 1/8600 0/4406
?/? c.1220-11A>G r.(=) p.(=) g.40140299T>C Copied from the Exome Variant Server ENTHD1_000021 134/13004 125/8600 9/4404
?/? c.1259T>C r.(?) p.(Leu420Ser) g.40140249A>G Copied from the Exome Variant Server ENTHD1_000020 1/13006 1/8600 0/4406
?/? c.1327G>A r.(?) p.(Gly443Arg) g.40140181C>T Copied from the Exome Variant Server ENTHD1_000019 1/13006 1/8600 0/4406
?/? c.1342A>G r.(?) p.(Thr448Ala) g.40140166T>C Copied from the Exome Variant Server ENTHD1_000018 10/13006 0/8600 10/4406
?/? c.1345C>T r.(=) p.(=) g.40140163G>A Copied from the Exome Variant Server ENTHD1_000017 2/13006 0/8600 2/4406
?/? c.1371C>A r.(=) p.(=) g.40140137G>T Copied from the Exome Variant Server ENTHD1_000016 3/13006 0/8600 3/4406
?/? c.1385A>C r.(?) p.(Glu462Ala) g.40140123T>G Copied from the Exome Variant Server ENTHD1_000015 1/13006 0/8600 1/4406
?/? c.1466A>G r.(?) p.(Asn489Ser) g.40140042T>C Copied from the Exome Variant Server ENTHD1_000014 5/13006 0/8600 5/4406
?/? c.1471C>T r.(=) p.(=) g.40140037G>A Copied from the Exome Variant Server ENTHD1_000013 1/13006 0/8600 1/4406
?/? c.1481T>C r.(?) p.(Leu494Pro) g.40140027A>G Copied from the Exome Variant Server ENTHD1_000012 1/13006 0/8600 1/4406
?/? c.1527T>C r.(=) p.(=) g.40139981A>G Copied from the Exome Variant Server ENTHD1_000011 1/13006 1/8600 0/4406
?/? c.1603A>G r.(?) p.(Thr535Ala) g.40139905T>C Copied from the Exome Variant Server ENTHD1_000010 1/13006 1/8600 0/4406
?/? c.1643T>C r.(?) p.(Ile548Thr) g.40139865A>G Copied from the Exome Variant Server ENTHD1_000009 36/13006 2/8600 34/4406
?/? c.1673C>T r.(?) p.(Ala558Val) g.40139835G>A Copied from the Exome Variant Server ENTHD1_000008 1/13006 1/8600 0/4406
?/? c.1674G>A r.(=) p.(=) g.40139834C>T Copied from the Exome Variant Server ENTHD1_000007 1/13006 1/8600 0/4406
?/? c.1683A>G r.(=) p.(=) g.40139825T>C Copied from the Exome Variant Server ENTHD1_000006 2/13006 2/8600 0/4406
?/? c.1697T>C r.(?) p.(Leu566Pro) g.40139811A>G Copied from the Exome Variant Server ENTHD1_000005 1/13006 0/8600 1/4406
?/? c.1723G>A r.(?) p.(Val575Ile) g.40139785C>T Copied from the Exome Variant Server ENTHD1_000004 1/13006 0/8600 1/4406
?/? c.1739T>C r.(?) p.(Leu580Ser) g.40139769A>G Copied from the Exome Variant Server ENTHD1_000003 1/13006 1/8600 0/4406
?/? c.*7C>G r.(=) p.(=) g.40139677G>C Copied from the Exome Variant Server ENTHD1_000002 1/13006 0/8600 1/4406
?/? c.*31G>A r.(=) p.(=) g.40139653C>T Copied from the Exome Variant Server ENTHD1_000001 8/13006 0/8600 8/4406
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