Full data view for gene KLHL13

Information The variants shown are described using the NM_033495.3 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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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.-572A>G r.(=) p.(=) g.117107363T>C Copied from the Exome Variant Server KLHL13_000071 784/3600 187/2391 597/1209 - - - - - - -
?/? c.-530G>A r.(=) p.(=) g.117107321C>T Copied from the Exome Variant Server KLHL13_000070 1/3600 0/2391 1/1209 - - - - - - -
?/? c.-471_-469del r.(=) p.(=) g.117107260_117107262del Copied from the Exome Variant Server KLHL13_000069 254/4971 4/3162 250/1809 - - - - - - -
?/? c.-21T>C r.(=) p.(=) g.117106812A>G Copied from the Exome Variant Server KLHL13_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-16G>A r.(=) p.(=) g.117106807C>T Copied from the Exome Variant Server KLHL13_000067 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-11G>A r.(=) p.(=) g.117106802C>T Copied from the Exome Variant Server KLHL13_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.77C>T r.(?) p.(Thr26Ile) g.117106715G>A Copied from the Exome Variant Server KLHL13_000065 3/10563 2/6728 1/3835 - - - - - - -
?/? c.98+14A>C r.(=) p.(=) g.117106680T>G Copied from the Exome Variant Server KLHL13_000064 2/10563 2/6728 0/3835 - - - - - - -
?/? c.99-17T>C r.(=) p.(=) g.117079555A>G Copied from the Exome Variant Server KLHL13_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.105C>T r.(=) p.(=) g.117079532G>A Copied from the Exome Variant Server KLHL13_000062 2/10563 0/6728 2/3835 - - - - - - -
?/? c.106G>A r.(?) p.(Val36Met) g.117079531C>T Copied from the Exome Variant Server KLHL13_000061 3/10563 2/6728 1/3835 - - - - - - -
?/? c.117A>G r.(=) p.(=) g.117079520T>C Copied from the Exome Variant Server KLHL13_000060 1/10563 1/6728 0/3835 - - - - - - -
?/? c.157G>A r.(?) p.(Gly53Ser) g.117079480C>T Copied from the Exome Variant Server KLHL13_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.159C>A r.(=) p.(=) g.117079478G>T Copied from the Exome Variant Server KLHL13_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.186G>A r.(=) p.(=) g.117079451C>T Copied from the Exome Variant Server KLHL13_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.240+16T>C r.(=) p.(=) g.117079381A>G Copied from the Exome Variant Server KLHL13_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.240+17C>T r.(=) p.(=) g.117079380G>A Copied from the Exome Variant Server KLHL13_000050 17/10563 15/6728 2/3835 - - - - - - -
?/? c.240+32C>T r.(=) p.(=) g.117079365G>A Copied from the Exome Variant Server KLHL13_000048 5/10563 0/6728 5/3835 - - - - - - -
?/? c.240+33G>T r.(=) p.(=) g.117079364C>A Copied from the Exome Variant Server KLHL13_000046 7/10563 0/6728 7/3835 - - - - - - -
?/? c.240+46_240+47insA r.(=) p.(=) g.117079350_117079351insT Copied from the Exome Variant Server KLHL13_000044 1/10205 1/6484 0/3721 - - - - - - -
?/? c.240+51C>G r.(=) p.(=) g.117079346G>C Copied from the Exome Variant Server KLHL13_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.241-21C>G r.(=) p.(=) g.117054354G>C Copied from the Exome Variant Server KLHL13_000059 8/10563 7/6728 1/3835 - - - - - - -
?/? c.241-20A>G r.(=) p.(=) g.117054353T>C Copied from the Exome Variant Server KLHL13_000057 108/10563 0/6728 108/3835 - - - - - - -
?/? c.287T>C r.(?) p.(Leu96Pro) g.117054287A>G Copied from the Exome Variant Server KLHL13_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.297T>C r.(=) p.(=) g.117054277A>G Copied from the Exome Variant Server KLHL13_000053 5/10563 0/6728 5/3835 - - - - - - -
?/? c.315C>T r.(=) p.(=) g.117054259G>A Copied from the Exome Variant Server KLHL13_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.374-17A>G r.(=) p.(=) g.117053697T>C Copied from the Exome Variant Server KLHL13_000049 4/10553 0/6724 4/3829 - - - - - - -
?/? c.423C>G r.(?) p.(Ser141Arg) g.117053631G>C Copied from the Exome Variant Server KLHL13_000047 3/10563 0/6728 3/3835 - - - - - - -
?/? c.530T>G r.(?) p.(Leu177Arg) g.117053524A>C Copied from the Exome Variant Server KLHL13_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.555G>A r.(=) p.(=) g.117053499C>T Copied from the Exome Variant Server KLHL13_000043 3141/10563 513/6728 2628/3835 - - - - - - -
?/? c.571-44C>T r.(=) p.(=) g.117044103G>A Copied from the Exome Variant Server KLHL13_000042 91/10028 4/6327 87/3701 - - - - - - -
?/? c.571-15_571-14insT r.(=) p.(=) g.117044073_117044074insA Copied from the Exome Variant Server KLHL13_000040 5/9786 4/6188 1/3598 - - - - - - -
?/? c.571-9G>A r.(=) p.(=) g.117044068C>T Copied from the Exome Variant Server KLHL13_000039 2/10310 2/6544 0/3766 - - - - - - -
?/? c.603G>T r.(=) p.(=) g.117044027C>A Copied from the Exome Variant Server KLHL13_000038 1/10503 0/6694 1/3809 - - - - - - -
?/? c.620A>G r.(?) p.(Asn207Ser) g.117044010T>C Copied from the Exome Variant Server KLHL13_000037 1/10539 1/6716 0/3823 - - - - - - -
?/? c.627C>T r.(=) p.(=) g.117044003G>A Copied from the Exome Variant Server KLHL13_000036 1/10537 0/6713 1/3824 - - - - - - -
?/? c.642C>A r.(?) p.(Tyr214*) g.117043988G>T Copied from the Exome Variant Server KLHL13_000035 1/10555 1/6721 0/3834 - - - - - - -
?/? c.654del r.(?) p.(Phe218Leufs*3) g.117043976del Copied from the Exome Variant Server KLHL13_000034 1/10201 0/6482 1/3719 - - - - - - -
?/? c.662A>C r.(?) p.(Lys221Thr) g.117043968T>G Copied from the Exome Variant Server KLHL13_000033 1/10562 1/6728 0/3834 - - - - - - -
?/? c.716G>A r.(?) p.(Arg239His) g.117043914C>T Copied from the Exome Variant Server KLHL13_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.726C>T r.(=) p.(=) g.117043904G>A Copied from the Exome Variant Server KLHL13_000031 168/10563 1/6728 167/3835 - - - - - - -
?/? c.782C>G r.(?) p.(Thr261Ser) g.117043848G>C Copied from the Exome Variant Server KLHL13_000030 12/10563 0/6728 12/3835 - - - - - - -
?/? c.787C>T r.(?) p.(Arg263Cys) g.117043843G>A Copied from the Exome Variant Server KLHL13_000029 5/10563 0/6728 5/3835 - - - - - - -
?/? c.788G>A r.(?) p.(Arg263His) g.117043842C>T Copied from the Exome Variant Server KLHL13_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.796C>T r.(?) p.(Arg266Cys) g.117043834G>A Copied from the Exome Variant Server KLHL13_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.894G>A r.(=) p.(=) g.117043736C>T Copied from the Exome Variant Server KLHL13_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1008G>A r.(=) p.(=) g.117043622C>T Copied from the Exome Variant Server KLHL13_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1059G>C r.(=) p.(=) g.117043571C>G Copied from the Exome Variant Server KLHL13_000024 81/10563 4/6728 77/3835 - - - - - - -
?/? c.1104G>A r.(=) p.(=) g.117043526C>T Copied from the Exome Variant Server KLHL13_000023 8/10563 6/6728 2/3835 - - - - - - -
?/? c.1137G>A r.(=) p.(=) g.117043493C>T Copied from the Exome Variant Server KLHL13_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1152C>T r.(=) p.(=) g.117043478G>A Copied from the Exome Variant Server KLHL13_000021 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1249C>T r.(?) p.(Arg417*) g.117043381G>A Copied from the Exome Variant Server KLHL13_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1326T>C r.(=) p.(=) g.117043304A>G Copied from the Exome Variant Server KLHL13_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1366+8C>T r.(=) p.(=) g.117043256G>A Copied from the Exome Variant Server KLHL13_000018 1/10554 1/6719 0/3835 - - - - - - -
?/? c.1366+24A>G r.(=) p.(=) g.117043240T>C Copied from the Exome Variant Server KLHL13_000017 1/10524 1/6702 0/3822 - - - - - - -
?/? c.1367-35T>A r.(=) p.(=) g.117035944A>T Copied from the Exome Variant Server KLHL13_000016 509/10548 3/6722 506/3826 - - - - - - -
?/? c.1367-7_1367-6insTT r.(=) p.(=) g.117035915_117035916insAA Copied from the Exome Variant Server KLHL13_000015 10/10204 6/6483 4/3721 - - - - - - -
?/? c.1367-6del r.(=) p.(=) g.117035915del Copied from the Exome Variant Server KLHL13_000014 169/10204 120/6483 49/3721 - - - - - - -
?/? c.1367-6dup r.(=) p.(=) g.117035915dup Copied from the Exome Variant Server KLHL13_000013 137/10204 56/6483 81/3721 - - - - - - -
?/? c.1428G>C r.(?) p.(Glu476Asp) g.117035848C>G Copied from the Exome Variant Server KLHL13_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1455G>A r.(=) p.(=) g.117035821C>T Copied from the Exome Variant Server KLHL13_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1480+18G>C r.(=) p.(=) g.117035778C>G Copied from the Exome Variant Server KLHL13_000010 15/10563 3/6728 12/3835 - - - - - - -
?/? c.1480+50A>G r.(=) p.(=) g.117035746T>C Copied from the Exome Variant Server KLHL13_000009 1/10559 0/6725 1/3834 - - - - - - -
?/? c.1481-39A>G r.(=) p.(=) g.117033397T>C Copied from the Exome Variant Server KLHL13_000008 5/10488 5/6685 0/3803 - - - - - - -
?/? c.1481-33A>G r.(=) p.(=) g.117033391T>C Copied from the Exome Variant Server KLHL13_000007 4/10528 0/6705 4/3823 - - - - - - -
?/? c.1611C>G r.(=) p.(=) g.117033228G>C Copied from the Exome Variant Server KLHL13_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1746C>T r.(=) p.(=) g.117033093G>A Copied from the Exome Variant Server KLHL13_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1773G>A r.(=) p.(=) g.117033066C>T Copied from the Exome Variant Server KLHL13_000004 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1866G>C r.(=) p.(=) g.117032973C>G Copied from the Exome Variant Server KLHL13_000003 2373/10563 513/6728 1860/3835 - - - - - - -
?/? c.*9C>T r.(=) p.(=) g.117032862G>A Copied from the Exome Variant Server KLHL13_000002 2/10563 0/6728 2/3835 - - - - - - -
?/? c.*31C>A r.(=) p.(=) g.117032840G>T Copied from the Exome Variant Server KLHL13_000001 1/10563 1/6728 0/3835 - - - - - - -
Legend