Full data view for gene SULF1

Information The variants shown are described using the NM_015170.2 transcript reference sequence.

160 entries on 2 pages. 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.-10A>C r.(=) p.(=) g.70476201A>C Copied from the Exome Variant Server SULF1_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? c.83C>T r.(?) p.(Pro28Leu) g.70476293C>T Copied from the Exome Variant Server SULF1_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.98G>T r.(?) p.(Arg33Leu) g.70476308G>T Copied from the Exome Variant Server SULF1_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.153T>C r.(=) p.(=) g.70476363T>C Copied from the Exome Variant Server SULF1_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.173-50G>A r.(=) p.(=) g.70488155G>A Copied from the Exome Variant Server SULF1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.181C>A r.(?) p.(Gln61Lys) g.70488213C>A Copied from the Exome Variant Server SULF1_000006 2/13006 2/8600 0/4406 - - - - - - -
?/? c.217G>T r.(?) p.(Gly73Trp) g.70488249G>T Copied from the Exome Variant Server SULF1_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.219G>A r.(=) p.(=) g.70488251G>A Copied from the Exome Variant Server SULF1_000008 2/13006 0/8600 2/4406 - - - - - - -
?/? c.267G>A r.(=) p.(=) g.70488299G>A Copied from the Exome Variant Server SULF1_000009 37/13006 0/8600 37/4406 - - - - - - -
?/? c.288C>T r.(=) p.(=) g.70488320C>T Copied from the Exome Variant Server SULF1_000010 2/13006 0/8600 2/4406 - - - - - - -
?/? c.308A>G r.(?) p.(His103Arg) g.70488340A>G Copied from the Exome Variant Server SULF1_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.348G>A r.(=) p.(=) g.70488380G>A Copied from the Exome Variant Server SULF1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.412+13G>A r.(=) p.(=) g.70488457G>A Copied from the Exome Variant Server SULF1_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.412+46T>C r.(=) p.(=) g.70488490T>C Copied from the Exome Variant Server SULF1_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.412+49A>G r.(=) p.(=) g.70488493A>G Copied from the Exome Variant Server SULF1_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.413-48T>C r.(=) p.(=) g.70498544T>C Copied from the Exome Variant Server SULF1_000016 28/12932 23/8558 5/4374 - - - - - - -
?/? c.413-40C>G r.(=) p.(=) g.70498552C>G Copied from the Exome Variant Server SULF1_000017 192/12978 0/8584 192/4394 - - - - - - -
?/? c.414C>A r.(=) p.(=) g.70498593C>A Copied from the Exome Variant Server SULF1_000018 3/13006 3/8600 0/4406 - - - - - - -
?/? c.441T>C r.(=) p.(=) g.70498620T>C Copied from the Exome Variant Server SULF1_000019 1/13004 1/8598 0/4406 - - - - - - -
?/? c.460C>G r.(?) p.(Pro154Ala) g.70498639C>G Copied from the Exome Variant Server SULF1_000020 7/13006 7/8600 0/4406 - - - - - - -
?/? c.522T>C r.(=) p.(=) g.70498701T>C Copied from the Exome Variant Server SULF1_000021 4/13006 4/8600 0/4406 - - - - - - -
?/? c.523C>T r.(?) p.(Arg175Cys) g.70498702C>T Copied from the Exome Variant Server SULF1_000022 2/13006 2/8600 0/4406 - - - - - - -
?/? c.565-48G>A r.(=) p.(=) g.70501159G>A Copied from the Exome Variant Server SULF1_000023 21/13006 0/8600 21/4406 - - - - - - -
?/? c.565-38del r.(=) p.(=) g.70501169del Copied from the Exome Variant Server SULF1_000024 22/12518 4/8254 18/4264 - - - - - - -
?/? c.642C>T r.(=) p.(=) g.70501284C>T Copied from the Exome Variant Server SULF1_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.669G>T r.(=) p.(=) g.70501311G>T Copied from the Exome Variant Server SULF1_000026 47/13006 45/8600 2/4406 - - - - - - -
?/? c.672C>T r.(=) p.(=) g.70501314C>T Copied from the Exome Variant Server SULF1_000027 5/13006 0/8600 5/4406 - - - - - - -
?/? c.675C>T r.(=) p.(=) g.70501317C>T Copied from the Exome Variant Server SULF1_000028 90/13006 84/8600 6/4406 - - - - - - -
?/? c.711G>C r.(=) p.(=) g.70501353G>C Copied from the Exome Variant Server SULF1_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.734+34A>G r.(=) p.(=) g.70501410A>G Copied from the Exome Variant Server SULF1_000030 4/13006 0/8600 4/4406 - - - - - - -
?/? c.734+39C>G r.(=) p.(=) g.70501415C>G Copied from the Exome Variant Server SULF1_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.735-51A>G r.(=) p.(=) g.70512787A>G Copied from the Exome Variant Server SULF1_000032 52/12990 0/8590 52/4400 - - - - - - -
?/? c.735-39A>G r.(=) p.(=) g.70512799A>G Copied from the Exome Variant Server SULF1_000033 1/13002 1/8596 0/4406 - - - - - - -
?/? c.735-31T>C r.(=) p.(=) g.70512807T>C Copied from the Exome Variant Server SULF1_000034 1/13004 0/8598 1/4406 - - - - - - -
?/? c.735-14C>T r.(=) p.(=) g.70512824C>T Copied from the Exome Variant Server SULF1_000035 58/13006 1/8600 57/4406 - - - - - - -
?/? c.780T>C r.(=) p.(=) g.70512883T>C Copied from the Exome Variant Server SULF1_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.858G>A r.(=) p.(=) g.70512961G>A Copied from the Exome Variant Server SULF1_000037 62/13006 1/8600 61/4406 - - - - - - -
?/? c.886-45A>C r.(=) p.(=) g.70513844A>C Copied from the Exome Variant Server SULF1_000038 2/13006 2/8600 0/4406 - - - - - - -
?/? c.886-34A>G r.(=) p.(=) g.70513855A>G Copied from the Exome Variant Server SULF1_000039 8750/13006 5938/8600 2812/4406 - - - - - - -
?/? c.888G>A r.(=) p.(=) g.70513891G>A Copied from the Exome Variant Server SULF1_000040 57/13006 2/8600 55/4406 - - - - - - -
?/? c.969G>A r.(=) p.(=) g.70513972G>A Copied from the Exome Variant Server SULF1_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1016G>A r.(?) p.(Arg339His) g.70514019G>A Copied from the Exome Variant Server SULF1_000042 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1061+14T>C r.(=) p.(=) g.70514078T>C Copied from the Exome Variant Server SULF1_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1061+22A>G r.(=) p.(=) g.70514086A>G Copied from the Exome Variant Server SULF1_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1061+34C>T r.(=) p.(=) g.70514098C>T Copied from the Exome Variant Server SULF1_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1061+52A>G r.(=) p.(=) g.70514116A>G Copied from the Exome Variant Server SULF1_000046 3181/7272 2266/4618 915/2654 - - - - - - -
?/? c.1062-33G>A r.(=) p.(=) g.70515394G>A Copied from the Exome Variant Server SULF1_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1062-29C>G r.(=) p.(=) g.70515398C>G Copied from the Exome Variant Server SULF1_000048 638/13006 9/8600 629/4406 - - - - - - -
?/? c.1062-17C>T r.(=) p.(=) g.70515410C>T Copied from the Exome Variant Server SULF1_000049 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1067C>A r.(?) p.(Pro356Gln) g.70515432C>A Copied from the Exome Variant Server SULF1_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1075G>A r.(?) p.(Val359Ile) g.70515440G>A Copied from the Exome Variant Server SULF1_000051 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1095C>T r.(=) p.(=) g.70515460C>T Copied from the Exome Variant Server SULF1_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1101G>A r.(=) p.(=) g.70515466G>A Copied from the Exome Variant Server SULF1_000053 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1111A>G r.(?) p.(Ile371Val) g.70515476A>G Copied from the Exome Variant Server SULF1_000054 55/13006 48/8600 7/4406 - - - - - - -
?/? c.1132C>T r.(?) p.(Pro378Ser) g.70515497C>T Copied from the Exome Variant Server SULF1_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1191-69G>A r.(=) p.(=) g.70515766G>A Copied from the Exome Variant Server SULF1_000056 2/4566 0/3182 2/1384 - - - - - - -
?/? c.1191-51T>C r.(=) p.(=) g.70515784T>C Copied from the Exome Variant Server SULF1_000057 59/13006 1/8600 58/4406 - - - - - - -
?/? c.1247+11G>T r.(=) p.(=) g.70515902G>T Copied from the Exome Variant Server SULF1_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1247+27_1247+28insG r.(=) p.(=) g.70515918_70515919insG Copied from the Exome Variant Server SULF1_000059 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1247+47C>T r.(=) p.(=) g.70515938C>T Copied from the Exome Variant Server SULF1_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1247+60_1247+63del r.(=) p.(=) g.70515951_70515954del Copied from the Exome Variant Server SULF1_000061 25/12516 24/8252 1/4264 - - - - - - -
?/? c.1247+65_1247+66insT r.(=) p.(=) g.70515956_70515957insT Copied from the Exome Variant Server SULF1_000062 15/12512 5/8250 10/4262 - - - - - - -
?/? c.1248-50C>T r.(=) p.(=) g.70516988C>T Copied from the Exome Variant Server SULF1_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1248-24G>A r.(=) p.(=) g.70517014G>A Copied from the Exome Variant Server SULF1_000064 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1248-4G>A r.spl? p.? g.70517034G>A Copied from the Exome Variant Server SULF1_000065 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1330C>T r.(=) p.(=) g.70517120C>T Copied from the Exome Variant Server SULF1_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1371G>A r.(=) p.(=) g.70517161G>A Copied from the Exome Variant Server SULF1_000067 202/13006 2/8600 200/4406 - - - - - - -
?/? c.1373G>A r.(?) p.(Gly458Glu) g.70517163G>A Copied from the Exome Variant Server SULF1_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1377+9C>T r.(=) p.(=) g.70517176C>T Copied from the Exome Variant Server SULF1_000069 8/13006 8/8600 0/4406 - - - - - - -
?/? c.1377+38C>T r.(=) p.(=) g.70517205C>T Copied from the Exome Variant Server SULF1_000070 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1377+45A>G r.(=) p.(=) g.70517212A>G Copied from the Exome Variant Server SULF1_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1378-31C>T r.(=) p.(=) g.70533239C>T Copied from the Exome Variant Server SULF1_000072 19/13006 18/8600 1/4406 - - - - - - -
?/? c.1378-30G>A r.(=) p.(=) g.70533240G>A Copied from the Exome Variant Server SULF1_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1378-13T>A r.(=) p.(=) g.70533257T>A Copied from the Exome Variant Server SULF1_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1392T>G r.(?) p.(Ile464Met) g.70533284T>G Copied from the Exome Variant Server SULF1_000075 118/13006 0/8600 118/4406 - - - - - - -
?/? c.1407C>G r.(=) p.(=) g.70533299C>G Copied from the Exome Variant Server SULF1_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1449C>T r.(=) p.(=) g.70533341C>T Copied from the Exome Variant Server SULF1_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1459C>G r.(?) p.(Gln487Glu) g.70533351C>G Copied from the Exome Variant Server SULF1_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1467G>A r.(=) p.(=) g.70533359G>A Copied from the Exome Variant Server SULF1_000079 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1469G>A r.(?) p.(Arg490Gln) g.70533361G>A Copied from the Exome Variant Server SULF1_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1479C>T r.(=) p.(=) g.70533371C>T Copied from the Exome Variant Server SULF1_000081 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1480G>A r.(?) p.(Ala494Thr) g.70533372G>A Copied from the Exome Variant Server SULF1_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1481C>T r.(?) p.(Ala494Val) g.70533373C>T Copied from the Exome Variant Server SULF1_000083 15/13006 0/8600 15/4406 - - - - - - -
?/? c.1483C>G r.(?) p.(Arg495Gly) g.70533375C>G Copied from the Exome Variant Server SULF1_000084 48/13006 44/8600 4/4406 - - - - - - -
?/? c.1484G>A r.(?) p.(Arg495His) g.70533376G>A Copied from the Exome Variant Server SULF1_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1494T>C r.(=) p.(=) g.70533386T>C Copied from the Exome Variant Server SULF1_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1514G>C r.(?) p.(Ser505Thr) g.70533406G>C Copied from the Exome Variant Server SULF1_000087 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1529G>C r.(?) p.(Gly510Ala) g.70533421G>C Copied from the Exome Variant Server SULF1_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1539C>T r.(=) p.(=) g.70533431C>T Copied from the Exome Variant Server SULF1_000089 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1558A>G r.(?) p.(Ser520Gly) g.70533450A>G Copied from the Exome Variant Server SULF1_000090 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1563A>G r.(=) p.(=) g.70533455A>G Copied from the Exome Variant Server SULF1_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1589C>T r.(?) p.(Thr530Ile) g.70533481C>T Copied from the Exome Variant Server SULF1_000092 7/13006 7/8600 0/4406 - - - - - - -
?/? c.1594+9C>T r.(=) p.(=) g.70533495C>T Copied from the Exome Variant Server SULF1_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1594+28A>G r.(=) p.(=) g.70533514A>G Copied from the Exome Variant Server SULF1_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1595A>G r.(?) p.(Lys532Arg) g.70536177A>G Copied from the Exome Variant Server SULF1_000095 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1622G>A r.(?) p.(Arg541Gln) g.70536204G>A Copied from the Exome Variant Server SULF1_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1745A>G r.(?) p.(Lys582Arg) g.70536327A>G Copied from the Exome Variant Server SULF1_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1782C>G r.(?) p.(Asn594Lys) g.70536364C>G Copied from the Exome Variant Server SULF1_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1787G>A r.(?) p.(Gly596Asp) g.70536369G>A Copied from the Exome Variant Server SULF1_000100 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1789A>G r.(?) p.(Arg597Gly) g.70536371A>G Copied from the Exome Variant Server SULF1_000102 328/13006 4/8600 324/4406 - - - - - - -
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