Unique variants in gene SHQ1

Information The variants shown are described using the NM_018130.2 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-50C>G r.(=) p.(=) g.72897541G>C Copied from the Exome Variant Server SHQ1_000098 1/12878 1/8542 0/4336
1 c.-34G>T r.(=) p.(=) g.72897525C>A Copied from the Exome Variant Server SHQ1_000097 1/12962 1/8576 0/4386
1 c.-26C>T r.(=) p.(=) g.72897517G>A Copied from the Exome Variant Server SHQ1_000096 3/12984 0/8584 3/4400
1 c.-24C>A r.(=) p.(=) g.72897515G>T Copied from the Exome Variant Server SHQ1_000095 200/12982 4/8584 196/4398
1 c.-5_-4insC r.(=) p.(=) g.72897495_72897496insG Copied from the Exome Variant Server SHQ1_000094 1/12516 1/8250 0/4266
1 c.-4G>T r.(=) p.(=) g.72897495C>A Copied from the Exome Variant Server SHQ1_000093 1/13004 1/8598 0/4406
1 c.10C>T r.(?) p.(Pro4Ser) g.72897482G>A Copied from the Exome Variant Server SHQ1_000092 1/13006 1/8600 0/4406
1 c.13G>T r.(?) p.(Ala5Ser) g.72897479C>A Copied from the Exome Variant Server SHQ1_000091 1/13006 1/8600 0/4406
1 c.25A>G r.(?) p.(Ser9Gly) g.72897467T>C Copied from the Exome Variant Server SHQ1_000090 422/13006 0/8600 422/4406
1 c.33T>G r.(?) p.(Asp11Glu) g.72897459A>C Copied from the Exome Variant Server SHQ1_000088 26/13006 26/8600 0/4406
1 c.36G>A r.(=) p.(=) g.72897456C>T Copied from the Exome Variant Server SHQ1_000086 2/13006 0/8600 2/4406
1 c.49A>G r.(?) p.(Ile17Val) g.72897443T>C Copied from the Exome Variant Server SHQ1_000084 1/13006 1/8600 0/4406
1 c.50T>C r.(?) p.(Ile17Thr) g.72897442A>G Copied from the Exome Variant Server SHQ1_000082 1/13006 0/8600 1/4406
1 c.71C>G r.(?) p.(Ala24Gly) g.72897421G>C Copied from the Exome Variant Server SHQ1_000080 1/13006 1/8600 0/4406
1 c.80C>T r.(?) p.(Ser27Phe) g.72897412G>A Copied from the Exome Variant Server SHQ1_000078 7/13006 0/8600 7/4406
1 c.99C>A r.(?) p.(Phe33Leu) g.72897393G>T Copied from the Exome Variant Server SHQ1_000076 1/13006 1/8600 0/4406
1 c.143+21C>T r.(=) p.(=) g.72897328G>A Copied from the Exome Variant Server SHQ1_000074 139/13006 10/8600 129/4406
1 c.144-24A>G r.(=) p.(=) g.72893598T>C Copied from the Exome Variant Server SHQ1_000072 2/13006 0/8600 2/4406
1 c.187G>A r.(?) p.(Gly63Arg) g.72893531C>T Copied from the Exome Variant Server SHQ1_000070 2/13006 0/8600 2/4406
1 c.208+13G>A r.(=) p.(=) g.72893497C>T Copied from the Exome Variant Server SHQ1_000068 1/13006 1/8600 0/4406
1 c.208+50T>C r.(=) p.(=) g.72893460A>G Copied from the Exome Variant Server SHQ1_000066 1/12998 0/8594 1/4404
1 c.208+51A>G r.(=) p.(=) g.72893459T>C Copied from the Exome Variant Server SHQ1_000063 1/12996 1/8592 0/4404
1 c.209-5T>C r.spl? p.? g.72891558A>G Copied from the Exome Variant Server SHQ1_000062 1/13006 0/8600 1/4406
1 c.209-2A>T r.spl? p.? g.72891555T>A Copied from the Exome Variant Server SHQ1_000059 1/13006 1/8600 0/4406
1 c.215T>G r.(?) p.(Phe72Cys) g.72891547A>C Copied from the Exome Variant Server SHQ1_000089 176/13006 157/8600 19/4406
1 c.220A>T r.(?) p.(Ile74Phe) g.72891542T>A Copied from the Exome Variant Server SHQ1_000087 1/13006 0/8600 1/4406
1 c.233A>G r.(?) p.(Lys78Arg) g.72891529T>C Copied from the Exome Variant Server SHQ1_000085 1/13006 1/8600 0/4406
1 c.262C>T r.(=) p.(=) g.72891500G>A Copied from the Exome Variant Server SHQ1_000083 71/13006 0/8600 71/4406
1 c.331+27T>C r.(=) p.(=) g.72891404A>G Copied from the Exome Variant Server SHQ1_000081 1/13006 1/8600 0/4406
1 c.332G>A r.(?) p.(Gly111Asp) g.72890350C>T Copied from the Exome Variant Server SHQ1_000079 1/13006 0/8600 1/4406
1 c.342G>A r.(=) p.(=) g.72890340C>T Copied from the Exome Variant Server SHQ1_000077 6/13006 0/8600 6/4406
1 c.363C>T r.(=) p.(=) g.72890319G>A Copied from the Exome Variant Server SHQ1_000075 2/13006 2/8600 0/4406
1 c.378T>C r.(=) p.(=) g.72890304A>G Copied from the Exome Variant Server SHQ1_000073 2/13006 1/8600 1/4406
1 c.399C>T r.(=) p.(=) g.72890283G>A Copied from the Exome Variant Server SHQ1_000071 1/13006 1/8600 0/4406
1 c.401G>A r.(?) p.(Cys134Tyr) g.72890281C>T Copied from the Exome Variant Server SHQ1_000069 134/13006 1/8600 133/4406
1 c.431C>T r.(?) p.(Pro144Leu) g.72890251G>A Copied from the Exome Variant Server SHQ1_000067 1/13006 1/8600 0/4406
1 c.460C>G r.(?) p.(Arg154Gly) g.72890222G>C Copied from the Exome Variant Server SHQ1_000065 1/13006 1/8600 0/4406
1 c.486+31A>G r.(=) p.(=) g.72890165T>C Copied from the Exome Variant Server SHQ1_000060 1/13006 1/8600 0/4406
1 c.486+48G>A r.(=) p.(=) g.72890148C>T Copied from the Exome Variant Server SHQ1_000057 1/13006 1/8600 0/4406
1 c.486+50A>G r.(=) p.(=) g.72890146T>C Copied from the Exome Variant Server SHQ1_000055 9/13006 0/8600 9/4406
1 c.487-19_487-16del r.(=) p.(=) g.72881648_72881651del Copied from the Exome Variant Server SHQ1_000053 3/12520 1/8254 2/4266
1 c.505A>G r.(?) p.(Ile169Val) g.72881614T>C Copied from the Exome Variant Server SHQ1_000051 69/13006 1/8600 68/4406
1 c.523G>T r.(?) p.(Asp175Tyr) g.72881596C>A Copied from the Exome Variant Server SHQ1_000049 6/13006 5/8600 1/4406
1 c.565G>A r.(?) p.(Ala189Thr) g.72881554C>T Copied from the Exome Variant Server SHQ1_000047 1/13006 1/8600 0/4406
1 c.578A>G r.(?) p.(Lys193Arg) g.72881541T>C Copied from the Exome Variant Server SHQ1_000045 1/13006 1/8600 0/4406
1 c.596A>G r.(?) p.(Tyr199Cys) g.72881523T>C Copied from the Exome Variant Server SHQ1_000043 1/13006 0/8600 1/4406
1 c.600-27G>C r.(=) p.(=) g.72873729C>G Copied from the Exome Variant Server SHQ1_000041 336/12992 307/8592 29/4400
1 c.600-27_600-25del r.(=) p.(=) g.72873727_72873729del Copied from the Exome Variant Server SHQ1_000039 16/12504 0/8244 16/4260
1 c.600-20C>A r.(=) p.(=) g.72873722G>T Copied from the Exome Variant Server SHQ1_000064 31/12996 0/8596 31/4400
1 c.608T>G r.(?) p.(Phe203Cys) g.72873694A>C Copied from the Exome Variant Server SHQ1_000061 2/13004 0/8600 2/4404
1 c.625A>G r.(?) p.(Ile209Val) g.72873677T>C Copied from the Exome Variant Server SHQ1_000058 8/13004 1/8600 7/4404
1 c.644A>G r.(?) p.(Tyr215Cys) g.72873658T>C Copied from the Exome Variant Server SHQ1_000056 1/13002 1/8598 0/4404
1 c.679A>T r.(?) p.(Met227Leu) g.72873623T>A Copied from the Exome Variant Server SHQ1_000054 1/13002 1/8598 0/4404
1 c.691G>C r.(?) p.(Glu231Gln) g.72873611C>G Copied from the Exome Variant Server SHQ1_000052 1/12998 1/8596 0/4402
1 c.716A>G r.(?) p.(His239Arg) g.72873586T>C Copied from the Exome Variant Server SHQ1_000050 1/13000 0/8598 1/4402
1 c.727+4A>G r.spl? p.? g.72873571T>C Copied from the Exome Variant Server SHQ1_000048 5/13000 0/8598 5/4402
1 c.728-35_728-32del r.(=) p.(=) g.72866567_72866570del Copied from the Exome Variant Server SHQ1_000046 1/12482 1/8244 0/4238
1 c.728-14G>A r.(=) p.(=) g.72866549C>T Copied from the Exome Variant Server SHQ1_000044 22/12998 22/8598 0/4400
1 c.728-12G>A r.(=) p.(=) g.72866547C>T Copied from the Exome Variant Server SHQ1_000042 1/12998 1/8598 0/4400
1 c.738T>G r.(=) p.(=) g.72866525A>C Copied from the Exome Variant Server SHQ1_000040 1/13004 1/8598 0/4406
1 c.773A>G r.(?) p.(Asn258Ser) g.72866490T>C Copied from the Exome Variant Server SHQ1_000038 1/13004 1/8598 0/4406
1 c.791A>G r.(?) p.(Asp264Gly) g.72866472T>C Copied from the Exome Variant Server SHQ1_000037 1/13004 1/8598 0/4406
1 c.806G>A r.(?) p.(Arg269His) g.72866457C>T Copied from the Exome Variant Server SHQ1_000036 1/13004 1/8598 0/4406
1 c.843A>G r.(=) p.(=) g.72866420T>C Copied from the Exome Variant Server SHQ1_000035 4/13004 0/8598 4/4406
1 c.882+1G>A r.spl? p.? g.72866380C>T Copied from the Exome Variant Server SHQ1_000034 1/13004 0/8598 1/4406
1 c.882+15G>A r.(=) p.(=) g.72866366C>T Copied from the Exome Variant Server SHQ1_000033 333/13004 0/8598 333/4406
1 c.882+17G>A r.(=) p.(=) g.72866364C>T Copied from the Exome Variant Server SHQ1_000032 1/13004 0/8598 1/4406
1 c.882+34T>G r.(=) p.(=) g.72866347A>C Copied from the Exome Variant Server SHQ1_000031 1/13004 1/8598 0/4406
1 c.883-56A>G r.(=) p.(=) g.72864610T>C Copied from the Exome Variant Server SHQ1_000030 61/4564 0/3180 61/1384
1 c.936+16G>A r.(=) p.(=) g.72864485C>T Copied from the Exome Variant Server SHQ1_000029 1/13006 1/8600 0/4406
1 c.936+39C>T r.(=) p.(=) g.72864462G>A Copied from the Exome Variant Server SHQ1_000027 1/13006 1/8600 0/4406
1 c.937-24G>A r.(=) p.(=) g.72861969C>T Copied from the Exome Variant Server SHQ1_000025 16/13006 0/8600 16/4406
1 c.948C>T r.(=) p.(=) g.72861934G>A Copied from the Exome Variant Server SHQ1_000023 1/13006 1/8600 0/4406
1 c.1044A>G r.(?) p.(Ile348Met) g.72861838T>C Copied from the Exome Variant Server SHQ1_000028 2/13006 2/8600 0/4406
1 c.1051T>C r.(=) p.(=) g.72861831A>G Copied from the Exome Variant Server SHQ1_000026 81/13006 0/8600 81/4406
1 c.1060+4A>G r.spl? p.? g.72861818T>C Copied from the Exome Variant Server SHQ1_000024 1/13006 0/8600 1/4406
1 c.1060+9T>C r.(=) p.(=) g.72861813A>G Copied from the Exome Variant Server SHQ1_000022 1/13006 1/8600 0/4406
1 c.1060+12C>T r.(=) p.(=) g.72861810G>A Copied from the Exome Variant Server SHQ1_000021 81/13006 0/8600 81/4406
1 c.1061-31G>T r.(=) p.(=) g.72842218C>A Copied from the Exome Variant Server SHQ1_000020 1/12962 1/8574 0/4388
1 c.1061-11A>G r.(=) p.(=) g.72842198T>C Copied from the Exome Variant Server SHQ1_000019 1/12990 0/8590 1/4400
1 c.1181+23A>C r.(=) p.(=) g.72842044T>G Copied from the Exome Variant Server SHQ1_000018 5/13000 0/8596 5/4404
1 c.1181+24C>T r.(=) p.(=) g.72842043G>A Copied from the Exome Variant Server SHQ1_000017 351/13000 5/8596 346/4404
1 c.1299A>C r.(?) p.(Glu433Asp) g.72799870T>G Copied from the Exome Variant Server SHQ1_000016 8/12946 0/8560 8/4386
1 c.1362A>C r.(=) p.(=) g.72799807T>G Copied from the Exome Variant Server SHQ1_000015 1/13006 1/8600 0/4406
1 c.1405G>A r.(?) p.(Glu469Lys) g.72799764C>T Copied from the Exome Variant Server SHQ1_000014 1/13006 1/8600 0/4406
1 c.1466G>A r.(?) p.(Ser489Asn) g.72799703C>T Copied from the Exome Variant Server SHQ1_000013 4872/13006 2148/8600 2724/4406
1 c.1528C>T r.(?) p.(Arg510Cys) g.72799641G>A Copied from the Exome Variant Server SHQ1_000012 5/13006 0/8600 5/4406
1 c.1545C>G r.(?) p.(Ile515Met) g.72799624G>C Copied from the Exome Variant Server SHQ1_000011 1/13006 0/8600 1/4406
1 c.1559C>A r.(?) p.(Ala520Asp) g.72799610G>T Copied from the Exome Variant Server SHQ1_000010 1/13006 1/8600 0/4406
1 c.1568del r.(?) p.(Gly523Glufs*16) g.72799601del Copied from the Exome Variant Server SHQ1_000009 21/12520 14/8254 7/4266
1 c.1605T>C r.(=) p.(=) g.72799564A>G Copied from the Exome Variant Server SHQ1_000008 1/13006 1/8600 0/4406
1 c.1611T>C r.(=) p.(=) g.72799558A>G Copied from the Exome Variant Server SHQ1_000007 1/13006 1/8600 0/4406
1 c.1621G>A r.(?) p.(Glu541Lys) g.72799548C>T Copied from the Exome Variant Server SHQ1_000006 74/13006 0/8600 74/4406
1 c.1635A>G r.(=) p.(=) g.72799534T>C Copied from the Exome Variant Server SHQ1_000005 1/13006 0/8600 1/4406
1 c.1675A>C r.(?) p.(Thr559Pro) g.72799494T>G Copied from the Exome Variant Server SHQ1_000004 3/13006 3/8600 0/4406
1 c.1688G>A r.(?) p.(Arg563His) g.72799481C>T Copied from the Exome Variant Server SHQ1_000003 17/13006 15/8600 2/4406
1 c.*36G>A r.(=) p.(=) g.72799399C>T Copied from the Exome Variant Server SHQ1_000002 26/13006 25/8600 1/4406
1 c.*43G>A r.(=) p.(=) g.72799392C>T Copied from the Exome Variant Server SHQ1_000001 2/13006 2/8600 0/4406
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