Full data view for gene HDHD3

Information The variants shown are described using the NM_031219.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-52del r.(=) p.(=) g.116136686del Copied from the Exome Variant Server HDHD3_000043 2/12338 1/8136 1/4202 - - - - - - -
?/? c.-42C>T r.(=) p.(=) g.116136676G>A Copied from the Exome Variant Server HDHD3_000042 150/12884 2/8518 148/4366 - - - - - - -
?/? c.-41G>A r.(=) p.(=) g.116136675C>T Copied from the Exome Variant Server HDHD3_000041 1/12908 0/8536 1/4372 - - - - - - -
?/? c.-26G>C r.(=) p.(=) g.116136660C>G Copied from the Exome Variant Server HDHD3_000040 1/12944 1/8562 0/4382 - - - - - - -
?/? c.-2C>A r.(=) p.(=) g.116136636G>T Copied from the Exome Variant Server HDHD3_000039 248/12982 3/8584 245/4398 - - - - - - -
?/? c.32C>T r.(?) p.(Thr11Met) g.116136603G>A Copied from the Exome Variant Server HDHD3_000038 6/13006 0/8600 6/4406 - - - - - - -
?/? c.46G>A r.(?) p.(Asp16Asn) g.116136589C>T Copied from the Exome Variant Server HDHD3_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.65G>A r.(?) p.(Arg22His) g.116136570C>T Copied from the Exome Variant Server HDHD3_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.91_92insA r.(?) p.(Thr31Asnfs*69) g.116136543_116136544insT Copied from the Exome Variant Server HDHD3_000035 2/12504 0/8246 2/4258 - - - - - - -
?/? c.97G>A r.(?) p.(Ala33Thr) g.116136538C>T Copied from the Exome Variant Server HDHD3_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.99C>G r.(=) p.(=) g.116136536G>C Copied from the Exome Variant Server HDHD3_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.100C>T r.(?) p.(Arg34Trp) g.116136535G>A Copied from the Exome Variant Server HDHD3_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.101G>A r.(?) p.(Arg34Gln) g.116136534C>T Copied from the Exome Variant Server HDHD3_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.126C>T r.(=) p.(=) g.116136509G>A Copied from the Exome Variant Server HDHD3_000030 4/13006 0/8600 4/4406 - - - - - - -
?/? c.144C>A r.(=) p.(=) g.116136491G>T Copied from the Exome Variant Server HDHD3_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.162G>T r.(?) p.(Arg54Ser) g.116136473C>A Copied from the Exome Variant Server HDHD3_000028 5/13006 5/8600 0/4406 - - - - - - -
?/? c.166C>G r.(?) p.(Gln56Glu) g.116136469G>C Copied from the Exome Variant Server HDHD3_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.189C>T r.(=) p.(=) g.116136446G>A Copied from the Exome Variant Server HDHD3_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.190G>A r.(?) p.(Gly64Ser) g.116136445C>T Copied from the Exome Variant Server HDHD3_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.201C>T r.(=) p.(=) g.116136434G>A Copied from the Exome Variant Server HDHD3_000024 2/13006 0/8600 2/4406 - - - - - - -
?/? c.202G>A r.(?) p.(Gly68Ser) g.116136433C>T Copied from the Exome Variant Server HDHD3_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.258G>A r.(=) p.(=) g.116136377C>T Copied from the Exome Variant Server HDHD3_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.270T>A r.(?) p.(Asp90Glu) g.116136365A>T Copied from the Exome Variant Server HDHD3_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.278C>T r.(?) p.(Ala93Val) g.116136357G>A Copied from the Exome Variant Server HDHD3_000020 2/13006 1/8600 1/4406 - - - - - - -
?/? c.300G>A r.(=) p.(=) g.116136335C>T Copied from the Exome Variant Server HDHD3_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.329C>G r.(?) p.(Thr110Ser) g.116136306G>C Copied from the Exome Variant Server HDHD3_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.418C>T r.(?) p.(Arg140Trp) g.116136217G>A Copied from the Exome Variant Server HDHD3_000017 8/13006 0/8600 8/4406 - - - - - - -
?/? c.426G>C r.(?) p.(Glu142Asp) g.116136209C>G Copied from the Exome Variant Server HDHD3_000016 6/13006 6/8600 0/4406 - - - - - - -
?/? c.432C>A r.(=) p.(=) g.116136203G>T Copied from the Exome Variant Server HDHD3_000015 2/13006 2/8600 0/4406 - - - - - - -
?/? c.437G>A r.(?) p.(Gly146Glu) g.116136198C>T Copied from the Exome Variant Server HDHD3_000014 7840/13006 5411/8600 2429/4406 - - - - - - -
?/? c.450G>C r.(=) p.(=) g.116136185C>G Copied from the Exome Variant Server HDHD3_000012 2/13006 2/8600 0/4406 - - - - - - -
?/? c.451C>T r.(?) p.(Arg151Cys) g.116136184G>A Copied from the Exome Variant Server HDHD3_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.480C>T r.(=) p.(=) g.116136155G>A Copied from the Exome Variant Server HDHD3_000008 496/13006 302/8600 194/4406 - - - - - - -
?/? c.496C>T r.(?) p.(Pro166Ser) g.116136139G>A Copied from the Exome Variant Server HDHD3_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.503C>T r.(?) p.(Pro168Leu) g.116136132G>A Copied from the Exome Variant Server HDHD3_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.542A>G r.(?) p.(His181Arg) g.116136093T>C Copied from the Exome Variant Server HDHD3_000009 2/13006 2/8600 0/4406 - - - - - - -
?/? c.545T>C r.(?) p.(Met182Thr) g.116136090A>G Copied from the Exome Variant Server HDHD3_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.604C>T r.(?) p.(Arg202Trp) g.116136031G>A Copied from the Exome Variant Server HDHD3_000006 2/13006 0/8600 2/4406 - - - - - - -
?/? c.668A>T r.(?) p.(Asp223Val) g.116135967T>A Copied from the Exome Variant Server HDHD3_000005 52/13006 0/8600 52/4406 - - - - - - -
?/? c.707A>G r.(?) p.(His236Arg) g.116135928T>C Copied from the Exome Variant Server HDHD3_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.743C>T r.(?) p.(Thr248Ile) g.116135892G>A Copied from the Exome Variant Server HDHD3_000003 8/13006 7/8600 1/4406 - - - - - - -
?/? c.750_751insGG r.(?) p.(Leu251Glyfs*52) g.116135884_116135885insCC Copied from the Exome Variant Server HDHD3_000002 6/12518 6/8254 0/4264 - - - - - - -
?/? c.*12G>A r.(=) p.(=) g.116135867C>T Copied from the Exome Variant Server HDHD3_000001 1/13006 0/8600 1/4406 - - - - - - -
Legend