Full data view for gene SUFU

Information The variants shown are described using the NM_016169.3 transcript reference sequence.

94 entries on 1 page. Showing entries 1 - 94.
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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.-33C>T r.(=) p.(=) g.104263877C>T Copied from the Exome Variant Server SUFU_000001 21/11120 0/7482 21/3638 - - - - - - -
?/? c.12G>A r.(=) p.(=) g.104263921G>A Copied from the Exome Variant Server SUFU_000002 37/10410 0/7100 37/3310 - - - - - - -
?/? c.26del r.(?) p.(Gly11Alafs*85) g.104263935del Copied from the Exome Variant Server SUFU_000003 31/8746 22/6082 9/2664 - - - - - - -
?/? c.84G>T r.(=) p.(=) g.104263993G>T Copied from the Exome Variant Server SUFU_000004 1/12978 1/8582 0/4396 - - - - - - -
?/? c.169A>G r.(?) p.(Ile57Val) g.104264078A>G Copied from the Exome Variant Server SUFU_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.182+16C>T r.(=) p.(=) g.104264107C>T Copied from the Exome Variant Server SUFU_000006 6237/13006 4816/8600 1421/4406 - - - - - - -
?/? c.183-49G>C r.(=) p.(=) g.104268877G>C Copied from the Exome Variant Server SUFU_000007 4626/13006 2858/8600 1768/4406 - - - - - - -
?/? c.198C>T r.(=) p.(=) g.104268941C>T Copied from the Exome Variant Server SUFU_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.210T>C r.(=) p.(=) g.104268953T>C Copied from the Exome Variant Server SUFU_000009 68/13006 0/8600 68/4406 - - - - - - -
?/? c.225G>T r.(?) p.(Arg75Ser) g.104268968G>T Copied from the Exome Variant Server SUFU_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.317+38T>A r.(=) p.(=) g.104269098T>A Copied from the Exome Variant Server SUFU_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.318-35T>C r.(=) p.(=) g.104309692T>C Copied from the Exome Variant Server SUFU_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.318-21del r.(=) p.(=) g.104309706del Copied from the Exome Variant Server SUFU_000013 1/12518 0/8254 1/4264 - - - - - - -
?/? c.412G>A r.(?) p.(Ala138Thr) g.104309821G>A Copied from the Exome Variant Server SUFU_000014 13/13006 0/8600 13/4406 - - - - - - -
?/? c.454+10_454+11insA r.(=) p.(=) g.104309873_104309874insA Copied from the Exome Variant Server SUFU_000015 1/12516 0/8254 1/4262 - - - - - - -
?/? c.454+45G>T r.(=) p.(=) g.104309908G>T Copied from the Exome Variant Server SUFU_000016 8/13006 7/8600 1/4406 - - - - - - -
?/? c.455-44A>C r.(=) p.(=) g.104352295A>C Copied from the Exome Variant Server SUFU_000017 3/13006 3/8600 0/4406 - - - - - - -
?/? c.474G>A r.(=) p.(=) g.104352358G>A Copied from the Exome Variant Server SUFU_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.493A>G r.(?) p.(Ser165Gly) g.104352377A>G Copied from the Exome Variant Server SUFU_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.506A>G r.(?) p.(Asn169Ser) g.104352390A>G Copied from the Exome Variant Server SUFU_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.528C>T r.(=) p.(=) g.104352412C>T Copied from the Exome Variant Server SUFU_000021 15/13006 0/8600 15/4406 - - - - - - -
?/? c.537G>A r.(=) p.(=) g.104352421G>A Copied from the Exome Variant Server SUFU_000022 2/13006 1/8600 1/4406 - - - - - - -
?/? c.597+28A>G r.(=) p.(=) g.104352509A>G Copied from the Exome Variant Server SUFU_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.597+32T>A r.(=) p.(=) g.104352513T>A Copied from the Exome Variant Server SUFU_000024 2/13006 2/8600 0/4406 - - - - - - -
?/? c.598-50G>T r.(=) p.(=) g.104353343G>T Copied from the Exome Variant Server SUFU_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.598-47del r.(=) p.(=) g.104353346del Copied from the Exome Variant Server SUFU_000026 36/12518 22/8254 14/4264 - - - - - - -
?/? c.600C>T r.(=) p.(=) g.104353395C>T Copied from the Exome Variant Server SUFU_000027 17/13006 16/8600 1/4406 - - - - - - -
?/? c.601G>A r.(?) p.(Val201Ile) g.104353396G>A Copied from the Exome Variant Server SUFU_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.666G>T r.(=) p.(=) g.104353461G>T Copied from the Exome Variant Server SUFU_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.683+8C>T r.(=) p.(=) g.104353486C>T Copied from the Exome Variant Server SUFU_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.683+25C>T r.(=) p.(=) g.104353503C>T Copied from the Exome Variant Server SUFU_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.683+26G>A r.(=) p.(=) g.104353504G>A Copied from the Exome Variant Server SUFU_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.683+27C>T r.(=) p.(=) g.104353505C>T Copied from the Exome Variant Server SUFU_000033 2/13006 1/8600 1/4406 - - - - - - -
?/? c.684-59G>A r.(=) p.(=) g.104353691G>A Copied from the Exome Variant Server SUFU_000034 1/4566 0/3182 1/1384 - - - - - - -
?/? c.684-19C>A r.(=) p.(=) g.104353731C>A Copied from the Exome Variant Server SUFU_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.703A>G r.(?) p.(Ile235Val) g.104353769A>G Copied from the Exome Variant Server SUFU_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.715C>A r.(=) p.(=) g.104353781C>A Copied from the Exome Variant Server SUFU_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.756+17G>A r.(=) p.(=) g.104353839G>A Copied from the Exome Variant Server SUFU_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.756+44G>A r.(=) p.(=) g.104353866G>A Copied from the Exome Variant Server SUFU_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.757-20C>T r.(=) p.(=) g.104356877C>T Copied from the Exome Variant Server SUFU_000040 4/13006 0/8600 4/4406 - - - - - - -
?/? c.828T>C r.(=) p.(=) g.104356968T>C Copied from the Exome Variant Server SUFU_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.839G>A r.(?) p.(Arg280Gln) g.104356979G>A Copied from the Exome Variant Server SUFU_000042 5/13006 5/8600 0/4406 - - - - - - -
?/? c.853G>A r.(?) p.(Asp285Asn) g.104356993G>A Copied from the Exome Variant Server SUFU_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.866G>A r.(?) p.(Arg289Gln) g.104357006G>A Copied from the Exome Variant Server SUFU_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.879C>T r.(=) p.(=) g.104357019C>T Copied from the Exome Variant Server SUFU_000045 2/13006 0/8600 2/4406 - - - - - - -
?/? c.880G>A r.(?) p.(Gly294Ser) g.104357020G>A Copied from the Exome Variant Server SUFU_000048 3/13006 0/8600 3/4406 - - - - - - -
?/? c.894G>T r.(=) p.(=) g.104357034G>T Copied from the Exome Variant Server SUFU_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.896G>A r.(?) p.(Arg299Gln) g.104357036G>A Copied from the Exome Variant Server SUFU_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.910+14C>T r.(=) p.(=) g.104357064C>T Copied from the Exome Variant Server SUFU_000047 19/13006 17/8600 2/4406 - - - - - - -
?/? c.925C>T r.(?) p.(Arg309Trp) g.104359204C>T Copied from the Exome Variant Server SUFU_000049 4/13006 4/8600 0/4406 - - - - - - -
?/? c.928G>A r.(?) p.(Glu310Lys) g.104359207G>A Copied from the Exome Variant Server SUFU_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.941G>A r.(?) p.(Arg314Lys) g.104359220G>A Copied from the Exome Variant Server SUFU_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.992G>A r.(?) p.(Arg331Gln) g.104359271G>A Copied from the Exome Variant Server SUFU_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1010A>G r.(?) p.(His337Arg) g.104359289A>G Copied from the Exome Variant Server SUFU_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1012G>A r.(?) p.(Asp338Asn) g.104359291G>A Copied from the Exome Variant Server SUFU_000055 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1016G>A r.(?) p.(Arg339Gln) g.104359295G>A Copied from the Exome Variant Server SUFU_000056 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1018G>T r.(?) p.(Ala340Ser) g.104359297G>T Copied from the Exome Variant Server SUFU_000057 87/13006 81/8600 6/4406 - - - - - - -
?/? c.1022+37A>G r.(=) p.(=) g.104359338A>G Copied from the Exome Variant Server SUFU_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1022+39G>A r.(=) p.(=) g.104359340G>A Copied from the Exome Variant Server SUFU_000059 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1022+49T>C r.(=) p.(=) g.104359350T>C Copied from the Exome Variant Server SUFU_000060 1673/13002 711/8598 962/4404 - - - - - - -
?/? c.1023-28C>T r.(=) p.(=) g.104374997C>T Copied from the Exome Variant Server SUFU_000061 29/13006 27/8600 2/4406 - - - - - - -
?/? c.1023-27G>T r.(=) p.(=) g.104374998G>T Copied from the Exome Variant Server SUFU_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1023-23C>G r.(=) p.(=) g.104375002C>G Copied from the Exome Variant Server SUFU_000063 123/13006 113/8600 10/4406 - - - - - - -
?/? c.1023-20T>C r.(=) p.(=) g.104375005T>C Copied from the Exome Variant Server SUFU_000064 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1028G>A r.(?) p.(Arg343His) g.104375030G>A Copied from the Exome Variant Server SUFU_000065 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1041G>C r.(=) p.(=) g.104375043G>C Copied from the Exome Variant Server SUFU_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1045A>G r.(?) p.(Ser349Gly) g.104375047A>G Copied from the Exome Variant Server SUFU_000067 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1058C>T r.(?) p.(Thr353Met) g.104375060C>T Copied from the Exome Variant Server SUFU_000068 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1084C>T r.(?) p.(Arg362Cys) g.104375086C>T Copied from the Exome Variant Server SUFU_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1105G>A r.(?) p.(Val369Ile) g.104375107G>A Copied from the Exome Variant Server SUFU_000070 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1150T>A r.(?) p.(Cys384Ser) g.104375152T>A Copied from the Exome Variant Server SUFU_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1157+7G>A r.(=) p.(=) g.104375166G>A Copied from the Exome Variant Server SUFU_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1157+23A>G r.(=) p.(=) g.104375182A>G Copied from the Exome Variant Server SUFU_000073 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1157+29T>A r.(=) p.(=) g.104375188T>A Copied from the Exome Variant Server SUFU_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1157+31del r.(=) p.(=) g.104375190del Copied from the Exome Variant Server SUFU_000075 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1232C>T r.(?) p.(Thr411Met) g.104377121C>T Copied from the Exome Variant Server SUFU_000076 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1245C>T r.(=) p.(=) g.104377134C>T Copied from the Exome Variant Server SUFU_000077 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1291T>C r.(=) p.(=) g.104377180T>C Copied from the Exome Variant Server SUFU_000078 78/13006 0/8600 78/4406 - - - - - - -
?/? c.1296+1612del r.(=) p.(=) g.104378797del Copied from the Exome Variant Server SUFU_000079 11/8150 4/5356 7/2794 - - - - - - -
?/? c.1296+1614C>T r.(=) p.(=) g.104378799C>T Copied from the Exome Variant Server SUFU_000080 1/5734 1/3982 0/1752 - - - - - - -
?/? c.1296+1638C>T r.(=) p.(=) g.104378823C>T Copied from the Exome Variant Server SUFU_000081 2/5734 0/3982 2/1752 - - - - - - -
?/? c.1296+1653C>T r.(=) p.(=) g.104378838C>T Copied from the Exome Variant Server SUFU_000082 1/5734 1/3982 0/1752 - - - - - - -
?/? c.1296+1669C>T r.(=) p.(=) g.104378854C>T Copied from the Exome Variant Server SUFU_000083 1/5734 1/3982 0/1752 - - - - - - -
?/? c.1296+1672C>T r.(=) p.(=) g.104378857C>T Copied from the Exome Variant Server SUFU_000084 1/5734 1/3982 0/1752 - - - - - - -
?/? c.1297-46C>G r.(=) p.(=) g.104386886C>G Copied from the Exome Variant Server SUFU_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1297-25_1297-23del r.(=) p.(=) g.104386907_104386909del Copied from the Exome Variant Server SUFU_000086 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1299T>C r.(=) p.(=) g.104386934T>C Copied from the Exome Variant Server SUFU_000087 1671/13006 717/8600 954/4406 - - - - - - -
?/? c.1300C>T r.(=) p.(=) g.104386935C>T Copied from the Exome Variant Server SUFU_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1365+19T>C r.(=) p.(=) g.104387019T>C Copied from the Exome Variant Server SUFU_000089 8859/13006 5608/8600 3251/4406 - - - - - - -
?/? c.1388G>A r.(?) p.(Ser463Asn) g.104389845G>A Copied from the Exome Variant Server SUFU_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*6G>T r.(=) p.(=) g.104389918G>T Copied from the Exome Variant Server SUFU_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*12C>T r.(=) p.(=) g.104389924C>T Copied from the Exome Variant Server SUFU_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*20T>G r.(=) p.(=) g.104389932T>G Copied from the Exome Variant Server SUFU_000093 12978/13006 8600/8600 4378/4406 - - - - - - -
?/? c.*27C>G r.(=) p.(=) g.104389939C>G Copied from the Exome Variant Server SUFU_000094 1/13006 0/8600 1/4406 - - - - - - -
Legend