Full data view for gene CLCN4

Information The variants shown are described using the NM_001830.3 transcript reference sequence.

100 entries on 1 page. 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-11-20C>T r.(=) p.(=) g.10153042C>T Copied from the Exome Variant Server CLCN4_000001 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-11-16C>G r.(=) p.(=) g.10153046C>G Copied from the Exome Variant Server CLCN4_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.11C>T r.(?) p.(Ala4Val) g.10153083C>T Copied from the Exome Variant Server CLCN4_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.16G>A r.(?) p.(Ala6Thr) g.10153088G>A Copied from the Exome Variant Server CLCN4_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.51C>T r.(=) p.(=) g.10153123C>T Copied from the Exome Variant Server CLCN4_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.75G>A r.(=) p.(=) g.10153147G>A Copied from the Exome Variant Server CLCN4_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.78G>A r.(=) p.(=) g.10153150G>A Copied from the Exome Variant Server CLCN4_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.145-50A>C r.(=) p.(=) g.10155505A>C Copied from the Exome Variant Server CLCN4_000008 8/10563 0/6728 8/3835 - - - - - - -
?/? c.145-44T>A r.(=) p.(=) g.10155511T>A Copied from the Exome Variant Server CLCN4_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.145-43C>A r.(=) p.(=) g.10155512C>A Copied from the Exome Variant Server CLCN4_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.145-42G>A r.(=) p.(=) g.10155513G>A Copied from the Exome Variant Server CLCN4_000011 107/10563 0/6728 107/3835 - - - - - - -
?/? c.145-4C>A r.spl? p.? g.10155551C>A Copied from the Exome Variant Server CLCN4_000012 3/10563 3/6728 0/3835 - - - - - - -
?/? c.234C>T r.(=) p.(=) g.10155644C>T Copied from the Exome Variant Server CLCN4_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.243G>A r.(=) p.(=) g.10155653G>A Copied from the Exome Variant Server CLCN4_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.244+4C>G r.spl? p.? g.10155658C>G Copied from the Exome Variant Server CLCN4_000015 114/10563 1/6728 113/3835 - - - - - - -
?/? c.244+27C>T r.(=) p.(=) g.10155681C>T Copied from the Exome Variant Server CLCN4_000016 2/10563 1/6728 1/3835 - - - - - - -
?/? c.245-47C>T r.(=) p.(=) g.10162904C>T Copied from the Exome Variant Server CLCN4_000017 2/10563 2/6728 0/3835 - - - - - - -
?/? c.245-35C>T r.(=) p.(=) g.10162916C>T Copied from the Exome Variant Server CLCN4_000018 5/10561 0/6726 5/3835 - - - - - - -
?/? c.245-19C>G r.(=) p.(=) g.10162932C>G Copied from the Exome Variant Server CLCN4_000019 2/10563 1/6728 1/3835 - - - - - - -
?/? c.245-4C>A r.spl? p.? g.10162947C>A Copied from the Exome Variant Server CLCN4_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.245-3C>T r.spl? p.? g.10162948C>T Copied from the Exome Variant Server CLCN4_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.273C>T r.(=) p.(=) g.10162979C>T Copied from the Exome Variant Server CLCN4_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.288G>A r.(=) p.(=) g.10162994G>A Copied from the Exome Variant Server CLCN4_000023 94/10563 1/6728 93/3835 - - - - - - -
?/? c.306C>G r.(=) p.(=) g.10163012C>G Copied from the Exome Variant Server CLCN4_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.408G>A r.(=) p.(=) g.10163114G>A Copied from the Exome Variant Server CLCN4_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.432+29G>A r.(=) p.(=) g.10163167G>A Copied from the Exome Variant Server CLCN4_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.432+40G>A r.(=) p.(=) g.10163178G>A Copied from the Exome Variant Server CLCN4_000027 198/10563 1/6728 197/3835 - - - - - - -
?/? c.433-40T>C r.(=) p.(=) g.10165939T>C Copied from the Exome Variant Server CLCN4_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.433-37C>T r.(=) p.(=) g.10165942C>T Copied from the Exome Variant Server CLCN4_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.486G>A r.(=) p.(=) g.10166032G>A Copied from the Exome Variant Server CLCN4_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.555+15_555+16insT r.(=) p.(=) g.10166116_10166117insT Copied from the Exome Variant Server CLCN4_000031 42/10202 0/6481 42/3721 - - - - - - -
?/? c.555+27C>T r.(=) p.(=) g.10166128C>T Copied from the Exome Variant Server CLCN4_000032 3/10563 3/6728 0/3835 - - - - - - -
?/? c.556-12C>T r.(=) p.(=) g.10174386C>T Copied from the Exome Variant Server CLCN4_000033 956/10563 627/6728 329/3835 - - - - - - -
?/? c.556-9C>T r.(=) p.(=) g.10174389C>T Copied from the Exome Variant Server CLCN4_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.564C>G r.(=) p.(=) g.10174406C>G Copied from the Exome Variant Server CLCN4_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.651C>T r.(=) p.(=) g.10174493C>T Copied from the Exome Variant Server CLCN4_000036 2/10563 2/6728 0/3835 - - - - - - -
?/? c.663T>C r.(=) p.(=) g.10174505T>C Copied from the Exome Variant Server CLCN4_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.747G>A r.(=) p.(=) g.10174589G>A Copied from the Exome Variant Server CLCN4_000038 2/10563 2/6728 0/3835 - - - - - - -
?/? c.762+47C>T r.(=) p.(=) g.10174651C>T Copied from the Exome Variant Server CLCN4_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.780G>A r.(=) p.(=) g.10174753G>A Copied from the Exome Variant Server CLCN4_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.843+58T>C r.(=) p.(=) g.10174874T>C Copied from the Exome Variant Server CLCN4_000041 8/3600 7/2391 1/1209 - - - - - - -
?/? c.871T>C r.(=) p.(=) g.10176112T>C Copied from the Exome Variant Server CLCN4_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.975G>A r.(=) p.(=) g.10176216G>A Copied from the Exome Variant Server CLCN4_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.984C>T r.(=) p.(=) g.10176225C>T Copied from the Exome Variant Server CLCN4_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.988G>A r.(?) p.(Ala330Thr) g.10176229G>A Copied from the Exome Variant Server CLCN4_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1062C>T r.(=) p.(=) g.10176303C>T Copied from the Exome Variant Server CLCN4_000046 10/10563 0/6728 10/3835 - - - - - - -
?/? c.1121T>C r.(?) p.(Ile374Thr) g.10176362T>C Copied from the Exome Variant Server CLCN4_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1134C>T r.(=) p.(=) g.10176375C>T Copied from the Exome Variant Server CLCN4_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1156C>T r.(?) p.(Pro386Ser) g.10176397C>T Copied from the Exome Variant Server CLCN4_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1171C>T r.(?) p.(Arg391Cys) g.10176412C>T Copied from the Exome Variant Server CLCN4_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1309G>A r.(?) p.(Gly437Ser) g.10176550G>A Copied from the Exome Variant Server CLCN4_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1319C>T r.(?) p.(Thr440Met) g.10176560C>T Copied from the Exome Variant Server CLCN4_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1320G>A r.(=) p.(=) g.10176561G>A Copied from the Exome Variant Server CLCN4_000053 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1362C>T r.(=) p.(=) g.10176603C>T Copied from the Exome Variant Server CLCN4_000054 1/10555 0/6721 1/3834 - - - - - - -
?/? c.1363G>A r.(?) p.(Val455Ile) g.10176604G>A Copied from the Exome Variant Server CLCN4_000055 1/10552 1/6719 0/3833 - - - - - - -
?/? c.1389+36A>C r.(=) p.(=) g.10176666A>C Copied from the Exome Variant Server CLCN4_000056 6/10263 0/6517 6/3746 - - - - - - -
?/? c.1390-51C>T r.(=) p.(=) g.10180456C>T Copied from the Exome Variant Server CLCN4_000057 3/10545 3/6715 0/3830 - - - - - - -
?/? c.1390-41G>C r.(=) p.(=) g.10180466G>C Copied from the Exome Variant Server CLCN4_000058 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1390-11G>A r.(=) p.(=) g.10180496G>A Copied from the Exome Variant Server CLCN4_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1390-4C>T r.spl? p.? g.10180503C>T Copied from the Exome Variant Server CLCN4_000060 132/10563 1/6728 131/3835 - - - - - - -
?/? c.1395G>A r.(=) p.(=) g.10180512G>A Copied from the Exome Variant Server CLCN4_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1401C>T r.(=) p.(=) g.10180518C>T Copied from the Exome Variant Server CLCN4_000062 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1431G>A r.(=) p.(=) g.10180548G>A Copied from the Exome Variant Server CLCN4_000063 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1437G>A r.(=) p.(=) g.10180554G>A Copied from the Exome Variant Server CLCN4_000064 1421/10563 227/6728 1194/3835 - - - - - - -
?/? c.1453A>G r.(?) p.(Ile485Val) g.10180570A>G Copied from the Exome Variant Server CLCN4_000065 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1458C>T r.(=) p.(=) g.10180575C>T Copied from the Exome Variant Server CLCN4_000066 11/10563 0/6728 11/3835 - - - - - - -
?/? c.1548C>T r.(=) p.(=) g.10180665C>T Copied from the Exome Variant Server CLCN4_000067 10/10563 1/6728 9/3835 - - - - - - -
?/? c.1575C>T r.(=) p.(=) g.10180692C>T Copied from the Exome Variant Server CLCN4_000068 7/10561 1/6726 6/3835 - - - - - - -
?/? c.1576+28G>A r.(=) p.(=) g.10180721G>A Copied from the Exome Variant Server CLCN4_000069 1/10553 1/6722 0/3831 - - - - - - -
?/? c.1576+33del r.(=) p.(=) g.10180726del Copied from the Exome Variant Server CLCN4_000070 7/10189 4/6471 3/3718 - - - - - - -
?/? c.1576+34G>T r.(=) p.(=) g.10180727G>T Copied from the Exome Variant Server CLCN4_000071 2/10548 1/6716 1/3832 - - - - - - -
?/? c.1577-41C>T r.(=) p.(=) g.10181680C>T Copied from the Exome Variant Server CLCN4_000072 1/10538 1/6717 0/3821 - - - - - - -
?/? c.1577-40G>A r.(=) p.(=) g.10181681G>A Copied from the Exome Variant Server CLCN4_000073 71/10542 59/6719 12/3823 - - - - - - -
?/? c.1577-8_1577-7del r.(=) p.(=) g.10181713_10181714del Copied from the Exome Variant Server CLCN4_000074 7/10201 5/6480 2/3721 - - - - - - -
?/? c.1596G>A r.(=) p.(=) g.10181740G>A Copied from the Exome Variant Server CLCN4_000075 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1599G>A r.(=) p.(=) g.10181743G>A Copied from the Exome Variant Server CLCN4_000076 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1632G>A r.(=) p.(=) g.10181776G>A Copied from the Exome Variant Server CLCN4_000077 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1647C>A r.(=) p.(=) g.10181791C>A Copied from the Exome Variant Server CLCN4_000078 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1758G>A r.(=) p.(=) g.10181902G>A Copied from the Exome Variant Server CLCN4_000079 22/10563 21/6728 1/3835 - - - - - - -
?/? c.1830G>A r.(=) p.(=) g.10181974G>A Copied from the Exome Variant Server CLCN4_000080 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1857C>T r.(=) p.(=) g.10182001C>T Copied from the Exome Variant Server CLCN4_000081 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1863C>T r.(=) p.(=) g.10182007C>T Copied from the Exome Variant Server CLCN4_000082 3/10563 2/6728 1/3835 - - - - - - -
?/? c.1884G>A r.(=) p.(=) g.10182028G>A Copied from the Exome Variant Server CLCN4_000083 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1909G>C r.(?) p.(Val637Leu) g.10182053G>C Copied from the Exome Variant Server CLCN4_000084 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1968C>T r.(=) p.(=) g.10182112C>T Copied from the Exome Variant Server CLCN4_000085 1/10542 1/6712 0/3830 - - - - - - -
?/? c.1980C>T r.(=) p.(=) g.10188705C>T Copied from the Exome Variant Server CLCN4_000086 2/10563 1/6728 1/3835 - - - - - - -
?/? c.2004T>C r.(=) p.(=) g.10188729T>C Copied from the Exome Variant Server CLCN4_000087 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2030C>T r.(?) p.(Thr677Met) g.10188755C>T Copied from the Exome Variant Server CLCN4_000088 7/10563 6/6728 1/3835 - - - - - - -
?/? c.2031G>A r.(=) p.(=) g.10188756G>A Copied from the Exome Variant Server CLCN4_000089 10/10563 0/6728 10/3835 - - - - - - -
?/? c.2038C>T r.(?) p.(Pro680Ser) g.10188763C>T Copied from the Exome Variant Server CLCN4_000090 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2109A>G r.(=) p.(=) g.10188834A>G Copied from the Exome Variant Server CLCN4_000091 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2127G>A r.(=) p.(=) g.10188852G>A Copied from the Exome Variant Server CLCN4_000092 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2184G>A r.(=) p.(=) g.10188909G>A Copied from the Exome Variant Server CLCN4_000093 64/10563 0/6728 64/3835 - - - - - - -
?/? c.2192+10C>T r.(=) p.(=) g.10188927C>T Copied from the Exome Variant Server CLCN4_000094 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2192+51G>A r.(=) p.(=) g.10188968G>A Copied from the Exome Variant Server CLCN4_000095 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2193-47C>T r.(=) p.(=) g.10201487C>T Copied from the Exome Variant Server CLCN4_000096 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2193-46G>A r.(=) p.(=) g.10201488G>A Copied from the Exome Variant Server CLCN4_000097 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2193-44C>T r.(=) p.(=) g.10201490C>T Copied from the Exome Variant Server CLCN4_000098 2/10563 1/6728 1/3835 - - - - - - -
?/? c.*11G>A r.(=) p.(=) g.10201635G>A Copied from the Exome Variant Server CLCN4_000099 2/10563 1/6728 1/3835 - - - - - - -
?/? c.*40G>T r.(=) p.(=) g.10201664G>T Copied from the Exome Variant Server CLCN4_000100 1/10563 1/6728 0/3835 - - - - - - -
Legend