Unique variants in gene ARSH

Information The variants shown are described using the NM_001011719.1 transcript reference sequence.

102 entries on 2 pages. Showing entries 1 - 100.
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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.5C>T r.(?) p.(Thr2Ile) g.2924658C>T Copied from the Exome Variant Server ARSH_000001 1/10563 0/6728 1/3835
1 c.9A>G r.(=) p.(=) g.2924662A>G Copied from the Exome Variant Server ARSH_000002 1/10563 0/6728 1/3835
1 c.12C>T r.(=) p.(=) g.2924665C>T Copied from the Exome Variant Server ARSH_000003 2/10563 0/6728 2/3835
1 c.40G>A r.(?) p.(Ala14Thr) g.2924693G>A Copied from the Exome Variant Server ARSH_000004 1/10563 1/6728 0/3835
1 c.75C>T r.(=) p.(=) g.2924728C>T Copied from the Exome Variant Server ARSH_000005 9/10563 1/6728 8/3835
1 c.93-47T>C r.(=) p.(=) g.2928024T>C Copied from the Exome Variant Server ARSH_000006 1/10563 0/6728 1/3835
1 c.109C>T r.(?) p.(Arg37Cys) g.2928087C>T Copied from the Exome Variant Server ARSH_000007 1/10563 0/6728 1/3835
1 c.110G>A r.(?) p.(Arg37His) g.2928088G>A Copied from the Exome Variant Server ARSH_000008 158/10563 2/6728 156/3835
1 c.114G>A r.(=) p.(=) g.2928092G>A Copied from the Exome Variant Server ARSH_000009 7/10563 0/6728 7/3835
1 c.117A>C r.(=) p.(=) g.2928095A>C Copied from the Exome Variant Server ARSH_000010 4/10563 2/6728 2/3835
1 c.130A>G r.(?) p.(Arg44Gly) g.2928108A>G Copied from the Exome Variant Server ARSH_000011 41/10563 39/6728 2/3835
1 c.147C>T r.(=) p.(=) g.2928125C>T Copied from the Exome Variant Server ARSH_000012 502/10563 444/6728 58/3835
1 c.161T>C r.(?) p.(Met54Thr) g.2928139T>C Copied from the Exome Variant Server ARSH_000013 3/10563 2/6728 1/3835
1 c.165C>T r.(=) p.(=) g.2928143C>T Copied from the Exome Variant Server ARSH_000014 2/10563 0/6728 2/3835
1 c.175C>T r.(?) p.(Arg59Trp) g.2928153C>T Copied from the Exome Variant Server ARSH_000015 1/10563 0/6728 1/3835
1 c.192C>T r.(=) p.(=) g.2928170C>T Copied from the Exome Variant Server ARSH_000016 1174/10563 758/6728 416/3835
1 c.196C>T r.(?) p.(Arg66Trp) g.2928174C>T Copied from the Exome Variant Server ARSH_000017 2/10563 2/6728 0/3835
1 c.197G>A r.(?) p.(Arg66Gln) g.2928175G>A Copied from the Exome Variant Server ARSH_000018 2/10563 2/6728 0/3835
1 c.205A>G r.(?) p.(Ile69Val) g.2928183A>G Copied from the Exome Variant Server ARSH_000019 3/10563 0/6728 3/3835
1 c.214+21C>T r.(=) p.(=) g.2928213C>T Copied from the Exome Variant Server ARSH_000020 1/10563 0/6728 1/3835
1 c.214+30A>G r.(=) p.(=) g.2928222A>G Copied from the Exome Variant Server ARSH_000021 1/10562 0/6727 1/3835
1 c.263G>A r.(?) p.(Gly88Glu) g.2931136G>A Copied from the Exome Variant Server ARSH_000022 1/10563 0/6728 1/3835
1 c.309G>A r.(=) p.(=) g.2931182G>A Copied from the Exome Variant Server ARSH_000023 1/10563 0/6728 1/3835
1 c.317G>A r.(?) p.(Arg106His) g.2931190G>A Copied from the Exome Variant Server ARSH_000024 1/10563 1/6728 0/3835
1 c.319G>A r.(?) p.(Gly107Ser) g.2931192G>A Copied from the Exome Variant Server ARSH_000025 3/10563 0/6728 3/3835
1 c.340G>A r.(?) p.(Gly114Ser) g.2931213G>A Copied from the Exome Variant Server ARSH_000026 1/10563 1/6728 0/3835
1 c.340+11G>A r.(=) p.(=) g.2931224G>A Copied from the Exome Variant Server ARSH_000027 1/10563 1/6728 0/3835
1 c.340+18T>G r.(=) p.(=) g.2931231T>G Copied from the Exome Variant Server ARSH_000028 126/10563 0/6728 126/3835
1 c.341-50G>A r.(=) p.(=) g.2932961G>A Copied from the Exome Variant Server ARSH_000029 37/10563 0/6728 37/3835
1 c.341-36C>T r.(=) p.(=) g.2932975C>T Copied from the Exome Variant Server ARSH_000030 1/10563 1/6728 0/3835
1 c.341-6T>C r.(=) p.(=) g.2933005T>C Copied from the Exome Variant Server ARSH_000031 14/10563 0/6728 14/3835
1 c.385T>C r.(?) p.(Cys129Arg) g.2933055T>C Copied from the Exome Variant Server ARSH_000032 3/10563 0/6728 3/3835
1 c.387T>C r.(=) p.(=) g.2933057T>C Copied from the Exome Variant Server ARSH_000033 497/10563 6/6728 491/3835
1 c.395C>T r.(?) p.(Pro132Leu) g.2933065C>T Copied from the Exome Variant Server ARSH_000034 1/10563 0/6728 1/3835
1 c.396G>A r.(=) p.(=) g.2933066G>A Copied from the Exome Variant Server ARSH_000035 27/10563 25/6728 2/3835
1 c.397C>G r.(?) p.(Leu133Val) g.2933067C>G Copied from the Exome Variant Server ARSH_000036 3/10563 3/6728 0/3835
1 c.428T>G r.(?) p.(Val143Gly) g.2933098T>G Copied from the Exome Variant Server ARSH_000037 31/10563 0/6728 31/3835
1 c.430C>A r.(?) p.(Pro144Thr) g.2933100C>A Copied from the Exome Variant Server ARSH_000038 51/10563 46/6728 5/3835
1 c.467C>T r.(?) p.(Thr156Ile) g.2933137C>T Copied from the Exome Variant Server ARSH_000039 12/10563 1/6728 11/3835
1 c.489C>T r.(=) p.(=) g.2933159C>T Copied from the Exome Variant Server ARSH_000040 1/10563 1/6728 0/3835
1 c.513G>C r.(=) p.(=) g.2933183G>C Copied from the Exome Variant Server ARSH_000041 1/10563 0/6728 1/3835
1 c.558C>T r.(=) p.(=) g.2933228C>T Copied from the Exome Variant Server ARSH_000042 3/10563 3/6728 0/3835
1 c.563G>A r.(?) p.(Arg188His) g.2933233G>A Copied from the Exome Variant Server ARSH_000043 125/10563 118/6728 7/3835
1 c.577del r.(?) p.(Pro193Hisfs*34) g.2933247del Copied from the Exome Variant Server ARSH_000044 1/10205 0/6484 1/3721
1 c.609C>A r.(=) p.(=) g.2933279C>A Copied from the Exome Variant Server ARSH_000045 1/10563 1/6728 0/3835
1 c.612_615del r.(?) p.(Phe205Cysfs*21) g.2933282_2933285del Copied from the Exome Variant Server ARSH_000046 1/10205 1/6484 0/3721
1 c.641G>A r.(?) p.(Ser214Asn) g.2933311G>A Copied from the Exome Variant Server ARSH_000047 497/10563 6/6728 491/3835
1 c.645T>C r.(=) p.(=) g.2933315T>C Copied from the Exome Variant Server ARSH_000048 1/10563 0/6728 1/3835
1 c.653C>T r.(?) p.(Thr218Ile) g.2933323C>T Copied from the Exome Variant Server ARSH_000049 497/10563 6/6728 491/3835
1 c.655C>T r.(?) p.(Arg219*) g.2933325C>T Copied from the Exome Variant Server ARSH_000050 1/10563 1/6728 0/3835
1 c.706A>G r.(?) p.(Met236Val) g.2933376A>G Copied from the Exome Variant Server ARSH_000051 3/10563 2/6728 1/3835
1 c.709A>G r.(?) p.(Lys237Glu) g.2933379A>G Copied from the Exome Variant Server ARSH_000052 1/10563 1/6728 0/3835
1 c.764+51T>G r.(=) p.(=) g.2933485T>G Copied from the Exome Variant Server ARSH_000053 1/10551 0/6720 1/3831
1 c.790_791del r.(?) p.(Ser266Leufs*19) g.2936600_2936601del Copied from the Exome Variant Server ARSH_000054 15/10205 6/6484 9/3721
1 c.840T>C r.(=) p.(=) g.2936650T>C Copied from the Exome Variant Server ARSH_000055 3/10563 3/6728 0/3835
1 c.842T>C r.(?) p.(Val281Ala) g.2936652T>C Copied from the Exome Variant Server ARSH_000056 1/10563 0/6728 1/3835
1 c.876T>C r.(=) p.(=) g.2936686T>C Copied from the Exome Variant Server ARSH_000057 1/10563 0/6728 1/3835
1 c.901+28T>A r.(=) p.(=) g.2936739T>A Copied from the Exome Variant Server ARSH_000058 1/10563 1/6728 0/3835
1 c.901+39C>T r.(=) p.(=) g.2936750C>T Copied from the Exome Variant Server ARSH_000059 199/10563 186/6728 13/3835
1 c.902-28A>T r.(=) p.(=) g.2942034A>T Copied from the Exome Variant Server ARSH_000060 309/10563 1/6728 308/3835
1 c.949T>C r.(=) p.(=) g.2942109T>C Copied from the Exome Variant Server ARSH_000061 6671/10563 4345/6728 2326/3835
1 c.962C>T r.(?) p.(Thr321Ile) g.2942122C>T Copied from the Exome Variant Server ARSH_000062 1/10563 1/6728 0/3835
1 c.996C>T r.(=) p.(=) g.2942156C>T Copied from the Exome Variant Server ARSH_000063 3/10563 0/6728 3/3835
1 c.1023C>T r.(=) p.(=) g.2942183C>T Copied from the Exome Variant Server ARSH_000064 1/10563 1/6728 0/3835
1 c.1036+46G>A r.(=) p.(=) g.2942242G>A Copied from the Exome Variant Server ARSH_000065 1/10552 0/6723 1/3829
1 c.1037-48G>A r.(=) p.(=) g.2945306G>A Copied from the Exome Variant Server ARSH_000066 1/10563 0/6728 1/3835
1 c.1037-20G>T r.(=) p.(=) g.2945334G>T Copied from the Exome Variant Server ARSH_000067 17/10563 16/6728 1/3835
1 c.1072C>T r.(?) p.(Arg358Cys) g.2945389C>T Copied from the Exome Variant Server ARSH_000068 20/10563 19/6728 1/3835
1 c.1091G>A r.(?) p.(Arg364Gln) g.2945408G>A Copied from the Exome Variant Server ARSH_000069 1/10563 0/6728 1/3835
1 c.1098G>A r.(=) p.(=) g.2945415G>A Copied from the Exome Variant Server ARSH_000070 1/10563 1/6728 0/3835
1 c.1160C>T r.(?) p.(Thr387Met) g.2945477C>T Copied from the Exome Variant Server ARSH_000071 714/10563 650/6728 64/3835
1 c.1176C>T r.(=) p.(=) g.2945493C>T Copied from the Exome Variant Server ARSH_000072 1/10563 1/6728 0/3835
1 c.1177G>A r.(?) p.(Gly393Arg) g.2945494G>A Copied from the Exome Variant Server ARSH_000073 6/10563 5/6728 1/3835
1 c.1197C>G r.(?) p.(Asp399Glu) g.2945514C>G Copied from the Exome Variant Server ARSH_000074 1/10563 1/6728 0/3835
1 c.1200-14C>G r.(=) p.(=) g.2947274C>G Copied from the Exome Variant Server ARSH_000075 312/10563 2/6728 310/3835
1 c.1209C>T r.(=) p.(=) g.2947297C>T Copied from the Exome Variant Server ARSH_000076 1/10563 0/6728 1/3835
1 c.1224G>A r.(?) p.(Met408Ile) g.2947312G>A Copied from the Exome Variant Server ARSH_000077 310/10563 1/6728 309/3835
1 c.1245G>A r.(=) p.(=) g.2947333G>A Copied from the Exome Variant Server ARSH_000078 5/10563 0/6728 5/3835
1 c.1260C>T r.(=) p.(=) g.2947348C>T Copied from the Exome Variant Server ARSH_000079 10/10563 0/6728 10/3835
1 c.1266C>T r.(=) p.(=) g.2947354C>T Copied from the Exome Variant Server ARSH_000080 1/10563 1/6728 0/3835
1 c.1291C>T r.(=) p.(=) g.2947379C>T Copied from the Exome Variant Server ARSH_000081 2/10563 0/6728 2/3835
1 c.1299G>A r.(=) p.(=) g.2947387G>A Copied from the Exome Variant Server ARSH_000082 1/10563 1/6728 0/3835
1 c.1321+6T>C r.(=) p.(=) g.2947415T>C Copied from the Exome Variant Server ARSH_000083 1/10563 1/6728 0/3835
1 c.1321+12G>A r.(=) p.(=) g.2947421G>A Copied from the Exome Variant Server ARSH_000084 4/10563 4/6728 0/3835
1 c.1321+23C>T r.(=) p.(=) g.2947432C>T Copied from the Exome Variant Server ARSH_000085 1/10563 1/6728 0/3835
1 c.1321+36T>C r.(=) p.(=) g.2947445T>C Copied from the Exome Variant Server ARSH_000086 343/10563 1/6728 342/3835
1 c.1321+50C>T r.(=) p.(=) g.2947459C>T Copied from the Exome Variant Server ARSH_000087 9/10563 9/6728 0/3835
1 c.1376C>G r.(?) p.(Thr459Arg) g.2951113C>G Copied from the Exome Variant Server ARSH_000088 1/10563 0/6728 1/3835
1 c.1412C>T r.(?) p.(Ser471Leu) g.2951149C>T Copied from the Exome Variant Server ARSH_000089 1/10563 0/6728 1/3835
1 c.1413G>A r.(=) p.(=) g.2951150G>A Copied from the Exome Variant Server ARSH_000090 1/10563 1/6728 0/3835
1 c.1431C>T r.(=) p.(=) g.2951168C>T Copied from the Exome Variant Server ARSH_000091 1/10563 0/6728 1/3835
1 c.1458_1459del r.(?) p.(Asp488Profs*10) g.2951195_2951196del Copied from the Exome Variant Server ARSH_000092 1/10199 0/6478 1/3721
1 c.1464C>T r.(=) p.(=) g.2951201C>T Copied from the Exome Variant Server ARSH_000093 1/10563 1/6728 0/3835
1 c.1470del r.(?) p.(Glu491Lysfs*5) g.2951207del Copied from the Exome Variant Server ARSH_000094 2/10199 0/6478 2/3721
1 c.1489C>G r.(?) p.(Pro497Ala) g.2951226C>G Copied from the Exome Variant Server ARSH_000095 30/10563 30/6728 0/3835
1 c.1516G>A r.(?) p.(Val506Met) g.2951253G>A Copied from the Exome Variant Server ARSH_000096 7/10563 7/6728 0/3835
1 c.1552C>T r.(?) p.(Arg518Cys) g.2951289C>T Copied from the Exome Variant Server ARSH_000097 1/10563 1/6728 0/3835
1 c.1610C>T r.(?) p.(Pro537Leu) g.2951347C>T Copied from the Exome Variant Server ARSH_000098 3/10563 2/6728 1/3835
1 c.1611A>G r.(=) p.(=) g.2951348A>G Copied from the Exome Variant Server ARSH_000099 199/10563 186/6728 13/3835
1 c.1659G>A r.(=) p.(=) g.2951396G>A Copied from the Exome Variant Server ARSH_000100 1/10563 0/6728 1/3835
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