Full data view for gene HAUS1

Information The variants shown are described using the NM_138443.3 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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.-78C>A r.(=) p.(=) g.43684300C>A Copied from the Exome Variant Server HAUS1_000001 302/4566 148/3182 154/1384 - - - - - - -
?/? c.-49G>T r.(=) p.(=) g.43684329G>T Copied from the Exome Variant Server HAUS1_000002 1/12338 1/8164 0/4174 - - - - - - -
?/? c.-48G>C r.(=) p.(=) g.43684330G>C Copied from the Exome Variant Server HAUS1_000003 738/12344 318/8172 420/4172 - - - - - - -
?/? c.-40C>G r.(=) p.(=) g.43684338C>G Copied from the Exome Variant Server HAUS1_000004 1/12574 1/8336 0/4238 - - - - - - -
?/? c.-13G>C r.(=) p.(=) g.43684365G>C Copied from the Exome Variant Server HAUS1_000005 281/12814 256/8480 25/4334 - - - - - - -
?/? c.30+10C>T r.(=) p.(=) g.43684417C>T Copied from the Exome Variant Server HAUS1_000006 3/12908 0/8544 3/4364 - - - - - - -
?/? c.30+11G>A r.(=) p.(=) g.43684418G>A Copied from the Exome Variant Server HAUS1_000007 42/12912 0/8548 42/4364 - - - - - - -
?/? c.30+48T>A r.(=) p.(=) g.43684455T>A Copied from the Exome Variant Server HAUS1_000008 2/12732 2/8440 0/4292 - - - - - - -
?/? c.31-24A>G r.(=) p.(=) g.43685136A>G Copied from the Exome Variant Server HAUS1_000009 1/13002 1/8598 0/4404 - - - - - - -
?/? c.50A>C r.(?) p.(Lys17Thr) g.43685179A>C Copied from the Exome Variant Server HAUS1_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.93A>C r.(=) p.(=) g.43685222A>C Copied from the Exome Variant Server HAUS1_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.113A>G r.(?) p.(His38Arg) g.43685242A>G Copied from the Exome Variant Server HAUS1_000012 110/13006 1/8600 109/4406 - - - - - - -
?/? c.121T>C r.(?) p.(Ser41Pro) g.43685250T>C Copied from the Exome Variant Server HAUS1_000013 58/13006 2/8600 56/4406 - - - - - - -
?/? c.171C>T r.(=) p.(=) g.43685300C>T Copied from the Exome Variant Server HAUS1_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.203del r.(?) p.(Ala69Profs*12) g.43685332del Copied from the Exome Variant Server HAUS1_000015 1/12518 1/8254 0/4264 - - - - - - -
?/? c.205+5G>A r.spl? p.? g.43685339G>A Copied from the Exome Variant Server HAUS1_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.206-43_206-42insA r.(=) p.(=) g.43698104_43698105insA Copied from the Exome Variant Server HAUS1_000017 1/12516 1/8252 0/4264 - - - - - - -
?/? c.231G>T r.(?) p.(Met77Ile) g.43698172G>T Copied from the Exome Variant Server HAUS1_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.243T>C r.(=) p.(=) g.43698184T>C Copied from the Exome Variant Server HAUS1_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.252C>T r.(=) p.(=) g.43698193C>T Copied from the Exome Variant Server HAUS1_000020 100/13006 1/8600 99/4406 - - - - - - -
?/? c.257A>G r.(?) p.(Asn86Ser) g.43698198A>G Copied from the Exome Variant Server HAUS1_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.272G>A r.(?) p.(Gly91Asp) g.43698213G>A Copied from the Exome Variant Server HAUS1_000022 5/13006 0/8600 5/4406 - - - - - - -
?/? c.305C>T r.(?) p.(Ala102Val) g.43698246C>T Copied from the Exome Variant Server HAUS1_000023 5/13006 0/8600 5/4406 - - - - - - -
?/? c.333G>A r.(=) p.(=) g.43698274G>A Copied from the Exome Variant Server HAUS1_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.341+12G>T r.(=) p.(=) g.43698294G>T Copied from the Exome Variant Server HAUS1_000025 40/13006 34/8600 6/4406 - - - - - - -
?/? c.341+27C>T r.(=) p.(=) g.43698309C>T Copied from the Exome Variant Server HAUS1_000026 7928/13006 4781/8600 3147/4406 - - - - - - -
?/? c.382C>T r.(?) p.(Arg128Cys) g.43699932C>T Copied from the Exome Variant Server HAUS1_000027 78/13002 1/8598 77/4404 - - - - - - -
?/? c.383G>A r.(?) p.(Arg128His) g.43699933G>A Copied from the Exome Variant Server HAUS1_000028 1/13002 1/8598 0/4404 - - - - - - -
?/? c.392C>A r.(?) p.(Ser131Tyr) g.43699942C>A Copied from the Exome Variant Server HAUS1_000029 1/13002 0/8598 1/4404 - - - - - - -
?/? c.476+22G>A r.(=) p.(=) g.43700048G>A Copied from the Exome Variant Server HAUS1_000030 3/12930 3/8566 0/4364 - - - - - - -
?/? c.476+27C>T r.(=) p.(=) g.43700053C>T Copied from the Exome Variant Server HAUS1_000031 60/12904 54/8564 6/4340 - - - - - - -
?/? c.476+31T>G r.(=) p.(=) g.43700057T>G Copied from the Exome Variant Server HAUS1_000032 3/12862 0/8546 3/4316 - - - - - - -
?/? c.477-43_477-42insAGA r.(=) p.(=) g.43702390_43702391insAGA Copied from the Exome Variant Server HAUS1_000033 2/12512 1/8254 1/4258 - - - - - - -
?/? c.529A>C r.(?) p.(Asn177His) g.43702485A>C Copied from the Exome Variant Server HAUS1_000034 2/13006 0/8600 2/4406 - - - - - - -
?/? c.535C>T r.(?) p.(Arg179Cys) g.43702491C>T Copied from the Exome Variant Server HAUS1_000035 2/13006 2/8600 0/4406 - - - - - - -
?/? c.536G>A r.(?) p.(Arg179His) g.43702492G>A Copied from the Exome Variant Server HAUS1_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.571G>T r.(?) p.(Glu191*) g.43702527G>T Copied from the Exome Variant Server HAUS1_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.600+26T>A r.(=) p.(=) g.43702582T>A Copied from the Exome Variant Server HAUS1_000038 5/13006 5/8600 0/4406 - - - - - - -
?/? c.601-42C>G r.(=) p.(=) g.43703223C>G Copied from the Exome Variant Server HAUS1_000039 6430/13006 4365/8600 2065/4406 - - - - - - -
?/? c.601-4G>A r.spl? p.? g.43703261G>A Copied from the Exome Variant Server HAUS1_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.627T>C r.(=) p.(=) g.43703291T>C Copied from the Exome Variant Server HAUS1_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.666+1G>A r.spl? p.? g.43703331G>A Copied from the Exome Variant Server HAUS1_000042 4/13006 4/8600 0/4406 - - - - - - -
?/? c.666+9A>G r.(=) p.(=) g.43703339A>G Copied from the Exome Variant Server HAUS1_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.666+66G>A r.(=) p.(=) g.43703396G>A Copied from the Exome Variant Server HAUS1_000044 16/4562 0/3178 16/1384 - - - - - - -
?/? c.667-44G>A r.(=) p.(=) g.43704744G>A Copied from the Exome Variant Server HAUS1_000045 1/13004 0/8600 1/4404 - - - - - - -
?/? c.681A>G r.(=) p.(=) g.43704802A>G Copied from the Exome Variant Server HAUS1_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.682A>G r.(?) p.(Lys228Glu) g.43704803A>G Copied from the Exome Variant Server HAUS1_000047 3/13006 3/8600 0/4406 - - - - - - -
?/? c.690G>A r.(=) p.(=) g.43704811G>A Copied from the Exome Variant Server HAUS1_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.712T>C r.(=) p.(=) g.43704833T>C Copied from the Exome Variant Server HAUS1_000049 53/13006 0/8600 53/4406 - - - - - - -
?/? c.718T>C r.(?) p.(Ser240Pro) g.43704839T>C Copied from the Exome Variant Server HAUS1_000050 15/13006 13/8600 2/4406 - - - - - - -
?/? c.738+14C>T r.(=) p.(=) g.43704873C>T Copied from the Exome Variant Server HAUS1_000051 5/13006 1/8600 4/4406 - - - - - - -
?/? c.738+15G>A r.(=) p.(=) g.43704874G>A Copied from the Exome Variant Server HAUS1_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.738+38C>T r.(=) p.(=) g.43704897C>T Copied from the Exome Variant Server HAUS1_000053 1/13002 0/8596 1/4406 - - - - - - -
?/? c.739-68G>A r.(=) p.(=) g.43705642G>A Copied from the Exome Variant Server HAUS1_000054 1/4566 1/3182 0/1384 - - - - - - -
?/? c.739-20T>G r.(=) p.(=) g.43705690T>G Copied from the Exome Variant Server HAUS1_000055 39/12988 31/8588 8/4400 - - - - - - -
?/? c.739-13del r.(=) p.(=) g.43705697del Copied from the Exome Variant Server HAUS1_000057 205/12500 160/8242 45/4258 - - - - - - -
?/? c.739-13dup r.(=) p.(=) g.43705697dup Copied from the Exome Variant Server HAUS1_000056 44/12500 14/8242 30/4258 - - - - - - -
?/? c.763A>G r.(?) p.(Ile255Val) g.43705734A>G Copied from the Exome Variant Server HAUS1_000058 1/13002 1/8598 0/4404 - - - - - - -
?/? c.783_786+9del r.spl? p.? g.43705754_43705766del Copied from the Exome Variant Server HAUS1_000059 1/12516 1/8254 0/4262 - - - - - - -
?/? c.786+66_786+68del r.(=) p.(=) g.43705823_43705825del Copied from the Exome Variant Server HAUS1_000060 66/12354 59/8158 7/4196 - - - - - - -
?/? c.787-48G>T r.(=) p.(=) g.43707993G>T Copied from the Exome Variant Server HAUS1_000061 53/13002 0/8596 53/4406 - - - - - - -
?/? c.787-25C>A r.(=) p.(=) g.43708016C>A Copied from the Exome Variant Server HAUS1_000062 18/13002 16/8596 2/4406 - - - - - - -
?/? c.787-7C>T r.(=) p.(=) g.43708034C>T Copied from the Exome Variant Server HAUS1_000063 1/13002 0/8596 1/4406 - - - - - - -
?/? c.805C>G r.(?) p.(Leu269Val) g.43708059C>G Copied from the Exome Variant Server HAUS1_000064 2/13002 1/8596 1/4406 - - - - - - -
?/? c.*18T>C r.(=) p.(=) g.43708109T>C Copied from the Exome Variant Server HAUS1_000065 2/12998 2/8592 0/4406 - - - - - - -
Legend