All transcript variants in gene ARSD

Information The variants shown are described using the NM_001669.3 transcript reference sequence.

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

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.45-45G>A r.(=) p.(=) g.2843851C>T Copied from the Exome Variant Server ARSD_000098 1/10563 1/6728 0/3835
?/? c.45-12T>C r.(=) p.(=) g.2843818A>G Copied from the Exome Variant Server ARSD_000097 287/10563 138/6728 149/3835
?/? c.62T>C r.(?) p.(Leu21Pro) g.2843789A>G Copied from the Exome Variant Server ARSD_000096 5/10563 5/6728 0/3835
?/? c.90G>A r.(=) p.(=) g.2843761C>T Copied from the Exome Variant Server ARSD_000095 3/10559 1/6724 2/3835
?/? c.143C>T r.(?) p.(Ala48Val) g.2843708G>A Copied from the Exome Variant Server ARSD_000094 1/10563 1/6728 0/3835
?/? c.144G>A r.(=) p.(=) g.2843707C>T Copied from the Exome Variant Server ARSD_000093 6/10563 0/6728 6/3835
?/? c.156C>T r.(=) p.(=) g.2843695G>A Copied from the Exome Variant Server ARSD_000092 2/10563 0/6728 2/3835
?/? c.169G>A r.(?) p.(Gly57Ser) g.2843682C>T Copied from the Exome Variant Server ARSD_000091 1/10563 1/6728 0/3835
?/? c.194+46C>T r.(=) p.(=) g.2843611G>A Copied from the Exome Variant Server ARSD_000090 1/10563 1/6728 0/3835
?/? c.194+47G>A r.(=) p.(=) g.2843610C>T Copied from the Exome Variant Server ARSD_000089 17/10563 16/6728 1/3835
?/? c.194+48G>A r.(=) p.(=) g.2843609C>T Copied from the Exome Variant Server ARSD_000088 39/10563 0/6728 39/3835
?/? c.194+50A>G r.(=) p.(=) g.2843607T>C Copied from the Exome Variant Server ARSD_000087 1/10563 1/6728 0/3835
?/? c.195-33C>T r.(=) p.(=) g.2840098G>A Copied from the Exome Variant Server ARSD_000086 582/10563 3/6728 579/3835
?/? c.251C>T r.(?) p.(Ala84Val) g.2840009G>A Copied from the Exome Variant Server ARSD_000085 1/10563 1/6728 0/3835
?/? c.303T>A r.(?) p.(His101Gln) g.2839957A>T Copied from the Exome Variant Server ARSD_000084 1/10563 1/6728 0/3835
?/? c.316+7G>C r.(=) p.(=) g.2839937C>G Copied from the Exome Variant Server ARSD_000083 1/10563 1/6728 0/3835
?/? c.316+12G>A r.(=) p.(=) g.2839932C>T Copied from the Exome Variant Server ARSD_000082 1/10563 1/6728 0/3835
?/? c.317-48C>T r.(=) p.(=) g.2838812G>A Copied from the Exome Variant Server ARSD_000081 3/10563 2/6728 1/3835
?/? c.317-24C>A r.(=) p.(=) g.2838788G>T Copied from the Exome Variant Server ARSD_000080 1/10563 1/6728 0/3835
?/? c.365C>T r.(?) p.(Ser122Leu) g.2838716G>A Copied from the Exome Variant Server ARSD_000079 1/10563 0/6728 1/3835
?/? c.367G>T r.(?) p.(Gly123Cys) g.2838714C>A Copied from the Exome Variant Server ARSD_000078 1/10563 0/6728 1/3835
?/? c.379G>A r.(?) p.(Glu127Lys) g.2838702C>T Copied from the Exome Variant Server ARSD_000077 1/10563 0/6728 1/3835
?/? c.439+17G>A r.(=) p.(=) g.2838625C>T Copied from the Exome Variant Server ARSD_000076 1/10563 1/6728 0/3835
?/? c.439+30C>T r.(=) p.(=) g.2838612G>A Copied from the Exome Variant Server ARSD_000075 1/10563 0/6728 1/3835
?/? c.475G>A r.(?) p.(Gly159Arg) g.2836233C>T Copied from the Exome Variant Server ARSD_000074 1/10525 0/6703 1/3822
?/? c.539T>C r.(?) p.(Leu180Pro) g.2836169A>G Copied from the Exome Variant Server ARSD_000073 1/10557 0/6723 1/3834
?/? c.593C>T r.(?) p.(Ala198Val) g.2836115G>A Copied from the Exome Variant Server ARSD_000072 1/10552 0/6727 1/3825
?/? c.615G>T r.(?) p.(Gln205His) g.2836093C>A Copied from the Exome Variant Server ARSD_000071 1/10555 1/6725 0/3830
?/? c.630G>T r.(=) p.(=) g.2836078C>A Copied from the Exome Variant Server ARSD_000070 3/10555 2/6722 1/3833
?/? c.650G>T r.(?) p.(Gly217Val) g.2836058C>A Copied from the Exome Variant Server ARSD_000069 1/10555 1/6722 0/3833
?/? c.671C>G r.(?) p.(Ser224Cys) g.2836037G>C Copied from the Exome Variant Server ARSD_000068 4696/10561 3030/6726 1666/3835
?/? c.693C>T r.(=) p.(=) g.2836015G>A Copied from the Exome Variant Server ARSD_000067 3/10563 2/6728 1/3835
?/? c.701_709del r.(?) p.(Ala234_Val236del) g.2835999_2836007del Copied from the Exome Variant Server ARSD_000066 1867/10205 1416/6484 451/3721
?/? c.735C>T r.(=) p.(=) g.2835973G>A Copied from the Exome Variant Server ARSD_000065 1/10563 0/6728 1/3835
?/? c.774G>C r.(=) p.(=) g.2835934C>G Copied from the Exome Variant Server ARSD_000064 1/10563 0/6728 1/3835
?/? c.858T>G r.(?) p.(Ile286Met) g.2835850A>C Copied from the Exome Variant Server ARSD_000063 1/10563 0/6728 1/3835
?/? c.863+23_863+24insA r.(=) p.(=) g.2835821_2835822insT Copied from the Exome Variant Server ARSD_000062 1/10205 1/6484 0/3721
?/? c.863+38G>A r.(=) p.(=) g.2835807C>T Copied from the Exome Variant Server ARSD_000061 1/10561 1/6728 0/3833
?/? c.863+51C>T r.(=) p.(=) g.2835794G>A Copied from the Exome Variant Server ARSD_000060 372/10560 15/6726 357/3834
?/? c.864-27A>G r.(=) p.(=) g.2833760T>C Copied from the Exome Variant Server ARSD_000059 1/10562 1/6727 0/3835
?/? c.877C>T r.(?) p.(Pro293Ser) g.2833720G>A Copied from the Exome Variant Server ARSD_000058 13/10563 13/6728 0/3835
?/? c.936A>G r.(=) p.(=) g.2833661T>C Copied from the Exome Variant Server ARSD_000057 880/10563 22/6728 858/3835
?/? c.975T>C r.(=) p.(=) g.2833622A>G Copied from the Exome Variant Server ARSD_000056 1/10563 1/6728 0/3835
?/? c.1000+16A>G r.(=) p.(=) g.2833581T>C Copied from the Exome Variant Server ARSD_000055 2/10563 2/6728 0/3835
?/? c.1000+36C>A r.(=) p.(=) g.2833561G>T Copied from the Exome Variant Server ARSD_000054 1/10563 1/6728 0/3835
?/? c.1000+731A>G r.(=) p.(=) g.2832866T>C Copied from the Exome Variant Server ARSD_000053 1/6038 1/3621 0/2417
?/? c.1000+738C>T r.(=) p.(=) g.2832859G>A Copied from the Exome Variant Server ARSD_000052 12/10563 0/6728 12/3835
?/? c.1000+825C>G r.(=) p.(=) g.2832772G>C Copied from the Exome Variant Server ARSD_000051 2/10563 1/6728 1/3835
?/? c.1000+855C>G r.(=) p.(=) g.2832742G>C Copied from the Exome Variant Server ARSD_000050 7498/10563 4207/6728 3291/3835
?/? c.1000+857C>T r.(=) p.(=) g.2832740G>A Copied from the Exome Variant Server ARSD_000049 1/10563 0/6728 1/3835
?/? c.1000+858G>A r.(=) p.(=) g.2832739C>T Copied from the Exome Variant Server ARSD_000048 216/10563 182/6728 34/3835
?/? c.1000+869T>C r.(=) p.(=) g.2832728A>G Copied from the Exome Variant Server ARSD_000047 1/10563 0/6728 1/3835
?/? c.1000+872A>G r.(=) p.(=) g.2832725T>C Copied from the Exome Variant Server ARSD_000046 1/10563 1/6728 0/3835
?/? c.1000+892G>A r.(=) p.(=) g.2832705C>T Copied from the Exome Variant Server ARSD_000045 1/10563 1/6728 0/3835
?/? c.1000+899C>T r.(=) p.(=) g.2832698G>A Copied from the Exome Variant Server ARSD_000044 1/10563 1/6728 0/3835
?/? c.1000+916T>G r.(=) p.(=) g.2832681A>C Copied from the Exome Variant Server ARSD_000043 1/10563 0/6728 1/3835
?/? c.1000+980G>A r.(=) p.(=) g.2832617C>T Copied from the Exome Variant Server ARSD_000042 1/10563 1/6728 0/3835
?/? c.1001-16T>C r.(=) p.(=) g.2828850A>G Copied from the Exome Variant Server ARSD_000041 14/10563 0/6728 14/3835
?/? c.1035A>G r.(=) p.(=) g.2828800T>C Copied from the Exome Variant Server ARSD_000040 339/10563 1/6728 338/3835
?/? c.1046C>T r.(?) p.(Thr349Ile) g.2828789G>A Copied from the Exome Variant Server ARSD_000039 1/10563 0/6728 1/3835
?/? c.1053G>A r.(=) p.(=) g.2828782C>T Copied from the Exome Variant Server ARSD_000038 2/10563 1/6728 1/3835
?/? c.1092A>G r.(=) p.(=) g.2828743T>C Copied from the Exome Variant Server ARSD_000037 1/10563 1/6728 0/3835
?/? c.1122C>T r.(=) p.(=) g.2828713G>A Copied from the Exome Variant Server ARSD_000036 1/10563 1/6728 0/3835
?/? c.1135+34C>T r.(=) p.(=) g.2828666G>A Copied from the Exome Variant Server ARSD_000035 1/10563 1/6728 0/3835
?/? c.1136-18G>A r.(=) p.(=) g.2828038C>T Copied from the Exome Variant Server ARSD_000034 4/10563 0/6728 4/3835
?/? c.1172G>A r.(?) p.(Arg391His) g.2827984C>T Copied from the Exome Variant Server ARSD_000033 1/10563 0/6728 1/3835
?/? c.1174G>A r.(?) p.(Val392Met) g.2827982C>T Copied from the Exome Variant Server ARSD_000032 1/10563 1/6728 0/3835
?/? c.1197G>A r.(=) p.(=) g.2827959C>T Copied from the Exome Variant Server ARSD_000031 1/10562 1/6727 0/3835
?/? c.1217G>A r.(?) p.(Arg406Gln) g.2827939C>T Copied from the Exome Variant Server ARSD_000030 1/10563 1/6728 0/3835
?/? c.1225G>A r.(?) p.(Gly409Arg) g.2827931C>T Copied from the Exome Variant Server ARSD_000029 2/10563 0/6728 2/3835
?/? c.1226G>A r.(?) p.(Gly409Glu) g.2827930C>T Copied from the Exome Variant Server ARSD_000028 113/10563 1/6728 112/3835
?/? c.1298+19G>A r.(=) p.(=) g.2827839C>T Copied from the Exome Variant Server ARSD_000027 1/10563 0/6728 1/3835
?/? c.1298+39T>A r.(=) p.(=) g.2827819A>T Copied from the Exome Variant Server ARSD_000026 56/10555 0/6725 56/3830
?/? c.1298+39_1298+40insT r.(=) p.(=) g.2827818_2827819insA Copied from the Exome Variant Server ARSD_000025 48/10191 2/6476 46/3715
?/? c.1402C>T r.(?) p.(Arg468Cys) g.2826780G>A Copied from the Exome Variant Server ARSD_000024 1/10563 1/6728 0/3835
?/? c.1429G>A r.(?) p.(Val477Ile) g.2825665C>T Copied from the Exome Variant Server ARSD_000023 2/10436 1/6652 1/3784
?/? c.1449G>A r.(=) p.(=) g.2825645C>T Copied from the Exome Variant Server ARSD_000022 1/10449 1/6663 0/3786
?/? c.1467C>T r.(=) p.(=) g.2825627G>A Copied from the Exome Variant Server ARSD_000021 40/10465 2/6674 38/3791
?/? c.1476G>C r.(=) p.(=) g.2825618C>G Copied from the Exome Variant Server ARSD_000020 36/10480 0/6681 36/3799
?/? c.1498G>A r.(?) p.(Val500Ile) g.2825596C>T Copied from the Exome Variant Server ARSD_000019 107/10515 1/6700 106/3815
?/? c.1521C>T r.(=) p.(=) g.2825573G>A Copied from the Exome Variant Server ARSD_000018 1/10533 1/6713 0/3820
?/? c.1572C>T r.(=) p.(=) g.2825522G>A Copied from the Exome Variant Server ARSD_000017 1/10560 0/6727 1/3833
?/? c.1593C>T r.(=) p.(=) g.2825501G>A Copied from the Exome Variant Server ARSD_000016 4/10557 3/6725 1/3832
?/? c.1605C>T r.(=) p.(=) g.2825489G>A Copied from the Exome Variant Server ARSD_000015 1/10562 0/6727 1/3835
?/? c.1642G>C r.(?) p.(Val548Leu) g.2825452C>G Copied from the Exome Variant Server ARSD_000014 1/10563 1/6728 0/3835
?/? c.1646C>T r.(?) p.(Ser549Leu) g.2825448G>A Copied from the Exome Variant Server ARSD_000013 1/10563 1/6728 0/3835
?/? c.1647G>A r.(=) p.(=) g.2825447C>T Copied from the Exome Variant Server ARSD_000012 1/10563 0/6728 1/3835
?/? c.1655G>A r.(?) p.(Arg552Gln) g.2825439C>T Copied from the Exome Variant Server ARSD_000011 1/10563 1/6728 0/3835
?/? c.1659G>C r.(?) p.(Gln553His) g.2825435C>G Copied from the Exome Variant Server ARSD_000010 1/10563 1/6728 0/3835
?/? c.1691T>C r.(?) p.(Met564Thr) g.2825403A>G Copied from the Exome Variant Server ARSD_000009 1276/10563 320/6728 956/3835
?/? c.1704G>A r.(=) p.(=) g.2825390C>T Copied from the Exome Variant Server ARSD_000008 1/10557 0/6724 1/3833
?/? c.1731C>T r.(=) p.(=) g.2825363G>A Copied from the Exome Variant Server ARSD_000007 115/10561 2/6726 113/3835
?/? c.1742C>T r.(?) p.(Pro581Leu) g.2825352G>A Copied from the Exome Variant Server ARSD_000006 2/10563 0/6728 2/3835
?/? c.1743G>A r.(=) p.(=) g.2825351C>T Copied from the Exome Variant Server ARSD_000005 2/10563 1/6728 1/3835
?/? c.*13_*14del r.(=) p.(=) g.2825298_2825299del Copied from the Exome Variant Server ARSD_000004 15/10190 11/6470 4/3720
?/? c.*18G>A r.(=) p.(=) g.2825294C>T Copied from the Exome Variant Server ARSD_000003 1/10548 1/6714 0/3834
?/? c.*17_*20del r.(=) p.(=) g.2825292_2825295del Copied from the Exome Variant Server ARSD_000002 33/10187 25/6469 8/3718
?/? c.*42G>A r.(=) p.(=) g.2825270C>T Copied from the Exome Variant Server ARSD_000001 3/10465 3/6662 0/3803
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