Full data view for gene ARSF

Information The variants shown are described using the NM_001201538.1 transcript reference sequence.

126 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.-28-14G>A r.(=) p.(=) g.2986100G>A Copied from the Exome Variant Server ARSF_000001 2/10561 0/6726 2/3835 - - - - - - -
?/? c.-28-3A>G r.(=) p.(=) g.2986111A>G Copied from the Exome Variant Server ARSF_000002 575/10562 3/6727 572/3835 - - - - - - -
?/? c.-17_-16insTATT r.(=) p.(=) g.2986125_2986126insTATT Copied from the Exome Variant Server ARSF_000003 1/10205 0/6484 1/3721 - - - - - - -
?/? c.-1A>C r.(=) p.(=) g.2986141A>C Copied from the Exome Variant Server ARSF_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.11+10G>A r.(=) p.(=) g.2986162G>A Copied from the Exome Variant Server ARSF_000005 2/10563 0/6728 2/3835 - - - - - - -
?/? c.12-28A>G r.(=) p.(=) g.2990039A>G Copied from the Exome Variant Server ARSF_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.16C>T r.(?) p.(Pro6Ser) g.2990071C>T Copied from the Exome Variant Server ARSF_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.17C>G r.(?) p.(Pro6Arg) g.2990072C>G Copied from the Exome Variant Server ARSF_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.18C>G r.(=) p.(=) g.2990073C>G Copied from the Exome Variant Server ARSF_000009 74/10563 68/6728 6/3835 - - - - - - -
?/? c.64G>A r.(?) p.(Ala22Thr) g.2990119G>A Copied from the Exome Variant Server ARSF_000010 2/10563 0/6728 2/3835 - - - - - - -
?/? c.145G>A r.(?) p.(Gly49Ser) g.2990200G>A Copied from the Exome Variant Server ARSF_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.161+7C>T r.(=) p.(=) g.2990223C>T Copied from the Exome Variant Server ARSF_000012 3/10563 0/6728 3/3835 - - - - - - -
?/? c.161+45G>C r.(=) p.(=) g.2990261G>C Copied from the Exome Variant Server ARSF_000013 109/10563 1/6728 108/3835 - - - - - - -
?/? c.161+48C>T r.(=) p.(=) g.2990264C>T Copied from the Exome Variant Server ARSF_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.162-51C>T r.(=) p.(=) g.2994538C>T Copied from the Exome Variant Server ARSF_000015 1/10309 1/6581 0/3728 - - - - - - -
?/? c.162-50_162-49insCCC r.(=) p.(=) g.2994539_2994540insCCC Copied from the Exome Variant Server ARSF_000016 166/9869 92/6282 74/3587 - - - - - - -
?/? c.162-39T>C r.(=) p.(=) g.2994550T>C Copied from the Exome Variant Server ARSF_000017 188/10469 4/6672 184/3797 - - - - - - -
?/? c.162-7C>A r.(=) p.(=) g.2994582C>A Copied from the Exome Variant Server ARSF_000018 2/10555 0/6723 2/3832 - - - - - - -
?/? c.165G>A r.(=) p.(=) g.2994592G>A Copied from the Exome Variant Server ARSF_000019 1/10562 1/6727 0/3835 - - - - - - -
?/? c.175G>C r.(?) p.(Asp59His) g.2994602G>C Copied from the Exome Variant Server ARSF_000020 5/10563 3/6728 2/3835 - - - - - - -
?/? c.240A>G r.(=) p.(=) g.2994667A>G Copied from the Exome Variant Server ARSF_000021 1/10563 0/6728 1/3835 - - - - - - -
?/? c.244C>T r.(?) p.(Arg82Trp) g.2994671C>T Copied from the Exome Variant Server ARSF_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.249C>T r.(=) p.(=) g.2994676C>T Copied from the Exome Variant Server ARSF_000023 2/10563 2/6728 0/3835 - - - - - - -
?/? c.252G>A r.(=) p.(=) g.2994679G>A Copied from the Exome Variant Server ARSF_000024 40/10563 37/6728 3/3835 - - - - - - -
?/? c.276C>A r.(=) p.(=) g.2994703C>A Copied from the Exome Variant Server ARSF_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.277C>T r.(?) p.(Arg93*) g.2994704C>T Copied from the Exome Variant Server ARSF_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.283+12G>T r.(=) p.(=) g.2994722G>T Copied from the Exome Variant Server ARSF_000027 3/10563 0/6728 3/3835 - - - - - - -
?/? c.283+15G>A r.(=) p.(=) g.2994725G>A Copied from the Exome Variant Server ARSF_000028 3/10563 3/6728 0/3835 - - - - - - -
?/? c.283+33C>T r.(=) p.(=) g.2994743C>T Copied from the Exome Variant Server ARSF_000029 39/10563 0/6728 39/3835 - - - - - - -
?/? c.283+35C>G r.(=) p.(=) g.2994745C>G Copied from the Exome Variant Server ARSF_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.284-49C>A r.(=) p.(=) g.2998883C>A Copied from the Exome Variant Server ARSF_000031 4/10563 0/6728 4/3835 - - - - - - -
?/? c.284-40C>T r.(=) p.(=) g.2998892C>T Copied from the Exome Variant Server ARSF_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.286A>G r.(?) p.(Met96Val) g.2998934A>G Copied from the Exome Variant Server ARSF_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.289G>C r.(?) p.(Val97Leu) g.2998937G>C Copied from the Exome Variant Server ARSF_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.327A>C r.(=) p.(=) g.2998975A>C Copied from the Exome Variant Server ARSF_000035 2/10563 0/6728 2/3835 - - - - - - -
?/? c.333C>T r.(=) p.(=) g.2998981C>T Copied from the Exome Variant Server ARSF_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.362del r.(?) p.(Ala122Glnfs*4) g.2999010del Copied from the Exome Variant Server ARSF_000037 3/10205 3/6484 0/3721 - - - - - - -
?/? c.395C>T r.(?) p.(Thr132Met) g.2999043C>T Copied from the Exome Variant Server ARSF_000038 271/10563 2/6728 269/3835 - - - - - - -
?/? c.397G>T r.(?) p.(Gly133Trp) g.2999045G>T Copied from the Exome Variant Server ARSF_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.404T>C r.(?) p.(Ile135Thr) g.2999052T>C Copied from the Exome Variant Server ARSF_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.406+7C>T r.(=) p.(=) g.2999061C>T Copied from the Exome Variant Server ARSF_000041 2/10563 1/6728 1/3835 - - - - - - -
?/? c.406+46T>C r.(=) p.(=) g.2999100T>C Copied from the Exome Variant Server ARSF_000042 14/10563 0/6728 14/3835 - - - - - - -
?/? c.407-23T>C r.(=) p.(=) g.3002261T>C Copied from the Exome Variant Server ARSF_000043 3/10563 3/6728 0/3835 - - - - - - -
?/? c.432C>T r.(=) p.(=) g.3002309C>T Copied from the Exome Variant Server ARSF_000044 1/10563 0/6728 1/3835 - - - - - - -
?/? c.444T>C r.(=) p.(=) g.3002321T>C Copied from the Exome Variant Server ARSF_000045 3/10563 0/6728 3/3835 - - - - - - -
?/? c.486C>T r.(=) p.(=) g.3002363C>T Copied from the Exome Variant Server ARSF_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.507C>T r.(=) p.(=) g.3002384C>T Copied from the Exome Variant Server ARSF_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.535C>T r.(?) p.(Arg179Cys) g.3002412C>T Copied from the Exome Variant Server ARSF_000048 34/10563 31/6728 3/3835 - - - - - - -
?/? c.543G>A r.(=) p.(=) g.3002420G>A Copied from the Exome Variant Server ARSF_000049 1/10563 0/6728 1/3835 - - - - - - -
?/? c.598A>G r.(?) p.(Ile200Val) g.3002475A>G Copied from the Exome Variant Server ARSF_000050 310/10563 276/6728 34/3835 - - - - - - -
?/? c.636C>A r.(=) p.(=) g.3002513C>A Copied from the Exome Variant Server ARSF_000051 80/10563 1/6728 79/3835 - - - - - - -
?/? c.704C>G r.(?) p.(Ser235Cys) g.3002581C>G Copied from the Exome Variant Server ARSF_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.716C>A r.(?) p.(Ser239Tyr) g.3002593C>A Copied from the Exome Variant Server ARSF_000053 12/10563 0/6728 12/3835 - - - - - - -
?/? c.746G>T r.(?) p.(Arg249Leu) g.3002623G>T Copied from the Exome Variant Server ARSF_000054 2/10563 1/6728 1/3835 - - - - - - -
?/? c.753C>G r.(?) p.(His251Gln) g.3002630C>G Copied from the Exome Variant Server ARSF_000055 2/10563 2/6728 0/3835 - - - - - - -
?/? c.761C>T r.(?) p.(Thr254Met) g.3002638C>T Copied from the Exome Variant Server ARSF_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.772A>G r.(?) p.(Met258Val) g.3002649A>G Copied from the Exome Variant Server ARSF_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.779C>T r.(?) p.(Ala260Val) g.3002656C>T Copied from the Exome Variant Server ARSF_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.784C>G r.(?) p.(Arg262Gly) g.3002661C>G Copied from the Exome Variant Server ARSF_000059 1/10563 0/6728 1/3835 - - - - - - -
?/? c.810A>G r.(=) p.(=) g.3002687A>G Copied from the Exome Variant Server ARSF_000060 7441/10563 4467/6728 2974/3835 - - - - - - -
?/? c.821T>C r.(?) p.(Phe274Ser) g.3002698T>C Copied from the Exome Variant Server ARSF_000061 1/10563 0/6728 1/3835 - - - - - - -
?/? c.827A>G r.(?) p.(Glu276Gly) g.3002704A>G Copied from the Exome Variant Server ARSF_000062 4/10563 0/6728 4/3835 - - - - - - -
?/? c.830G>A r.(?) p.(Arg277Lys) g.3002707G>A Copied from the Exome Variant Server ARSF_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.830+38A>G r.(=) p.(=) g.3002745A>G Copied from the Exome Variant Server ARSF_000064 1/10559 1/6726 0/3833 - - - - - - -
?/? c.831-29C>T r.(=) p.(=) g.3007508C>T Copied from the Exome Variant Server ARSF_000065 2/10563 2/6728 0/3835 - - - - - - -
?/? c.831-15T>C r.(=) p.(=) g.3007522T>C Copied from the Exome Variant Server ARSF_000066 2/10563 1/6728 1/3835 - - - - - - -
?/? c.874G>A r.(?) p.(Val292Met) g.3007580G>A Copied from the Exome Variant Server ARSF_000067 1/10563 1/6728 0/3835 - - - - - - -
?/? c.886C>A r.(?) p.(Leu296Ile) g.3007592C>A Copied from the Exome Variant Server ARSF_000068 1/10563 0/6728 1/3835 - - - - - - -
?/? c.962T>C r.(?) p.(Met321Thr) g.3007668T>C Copied from the Exome Variant Server ARSF_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.967+1G>T r.spl? p.? g.3007674G>T Copied from the Exome Variant Server ARSF_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.967+34C>T r.(=) p.(=) g.3007707C>T Copied from the Exome Variant Server ARSF_000071 8/10563 0/6728 8/3835 - - - - - - -
?/? c.968-34A>G r.(=) p.(=) g.3019094A>G Copied from the Exome Variant Server ARSF_000072 1/10562 0/6727 1/3835 - - - - - - -
?/? c.968-14G>A r.(=) p.(=) g.3019114G>A Copied from the Exome Variant Server ARSF_000073 1609/10562 1071/6727 538/3835 - - - - - - -
?/? c.987C>T r.(=) p.(=) g.3019147C>T Copied from the Exome Variant Server ARSF_000074 73/10562 0/6727 73/3835 - - - - - - -
?/? c.1004G>A r.(?) p.(Arg335Lys) g.3019164G>A Copied from the Exome Variant Server ARSF_000075 98/10562 0/6727 98/3835 - - - - - - -
?/? c.1011C>G r.(?) p.(Asn337Lys) g.3019171C>G Copied from the Exome Variant Server ARSF_000076 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1038C>T r.(=) p.(=) g.3019198C>T Copied from the Exome Variant Server ARSF_000077 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1086G>T r.(?) p.(Trp362Cys) g.3019246G>T Copied from the Exome Variant Server ARSF_000078 12/10562 0/6727 12/3835 - - - - - - -
?/? c.1097A>G r.(?) p.(Tyr366Cys) g.3019257A>G Copied from the Exome Variant Server ARSF_000079 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1102+5G>A r.spl? p.? g.3019267G>A Copied from the Exome Variant Server ARSF_000080 47/10562 44/6727 3/3835 - - - - - - -
?/? c.1102+42G>A r.(=) p.(=) g.3019304G>A Copied from the Exome Variant Server ARSF_000081 66/10562 0/6727 66/3835 - - - - - - -
?/? c.1103-17A>C r.(=) p.(=) g.3021786A>C Copied from the Exome Variant Server ARSF_000082 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1103-5T>C r.spl? p.? g.3021798T>C Copied from the Exome Variant Server ARSF_000083 1517/10563 1069/6728 448/3835 - - - - - - -
?/? c.1138C>T r.(?) p.(Arg380Cys) g.3021838C>T Copied from the Exome Variant Server ARSF_000084 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1139G>A r.(?) p.(Arg380His) g.3021839G>A Copied from the Exome Variant Server ARSF_000085 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1140C>T r.(=) p.(=) g.3021840C>T Copied from the Exome Variant Server ARSF_000086 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1183C>T r.(?) p.(Arg395Trp) g.3021883C>T Copied from the Exome Variant Server ARSF_000087 15/10563 0/6728 15/3835 - - - - - - -
?/? c.1184G>A r.(?) p.(Arg395Gln) g.3021884G>A Copied from the Exome Variant Server ARSF_000088 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1202C>T r.(?) p.(Thr401Ile) g.3021902C>T Copied from the Exome Variant Server ARSF_000089 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1265+8_1265+9insA r.(=) p.(=) g.3021973_3021974insA Copied from the Exome Variant Server ARSF_000090 3/10205 3/6484 0/3721 - - - - - - -
?/? c.1265+11A>G r.(=) p.(=) g.3021976A>G Copied from the Exome Variant Server ARSF_000091 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1266-25A>G r.(=) p.(=) g.3028144A>G Copied from the Exome Variant Server ARSF_000092 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1271T>C r.(?) p.(Ile424Thr) g.3028174T>C Copied from the Exome Variant Server ARSF_000093 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1275C>T r.(=) p.(=) g.3028178C>T Copied from the Exome Variant Server ARSF_000094 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1278C>T r.(=) p.(=) g.3028181C>T Copied from the Exome Variant Server ARSF_000095 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1307A>G r.(?) p.(Asn436Ser) g.3028210A>G Copied from the Exome Variant Server ARSF_000096 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1308C>T r.(=) p.(=) g.3028211C>T Copied from the Exome Variant Server ARSF_000097 6/10563 6/6728 0/3835 - - - - - - -
?/? c.1357C>T r.(=) p.(=) g.3028260C>T Copied from the Exome Variant Server ARSF_000098 1303/10563 507/6728 796/3835 - - - - - - -
?/? c.1365C>T r.(=) p.(=) g.3028268C>T Copied from the Exome Variant Server ARSF_000099 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1386C>T r.(=) p.(=) g.3028289C>T Copied from the Exome Variant Server ARSF_000100 1303/10563 507/6728 796/3835 - - - - - - -
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