Unique variants in gene ARAF

Information The variants shown are described using the NM_001256196.1 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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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.-40C>A r.(=) p.(=) g.47422327C>A Copied from the Exome Variant Server ARAF_000001 1/9998 1/6361 0/3637
1 c.87A>G r.(=) p.(=) g.47422453A>G Copied from the Exome Variant Server ARAF_000002 6/10558 0/6727 6/3831
1 c.93G>T r.(=) p.(=) g.47422459G>T Copied from the Exome Variant Server ARAF_000003 1/10553 0/6724 1/3829
1 c.97-23C>G r.(=) p.(=) g.47422602C>G Copied from the Exome Variant Server ARAF_000004 1/10562 1/6727 0/3835
1 c.120T>C r.(=) p.(=) g.47422648T>C Copied from the Exome Variant Server ARAF_000005 5/10563 0/6728 5/3835
1 c.155G>A r.(?) p.(Arg52Gln) g.47422683G>A Copied from the Exome Variant Server ARAF_000006 1/10563 1/6728 0/3835
1 c.200+11C>G r.(=) p.(=) g.47422739C>G Copied from the Exome Variant Server ARAF_000007 1/10562 1/6728 0/3834
1 c.200+19C>T r.(=) p.(=) g.47422747C>T Copied from the Exome Variant Server ARAF_000008 1/10563 1/6728 0/3835
1 c.200+39C>A r.(=) p.(=) g.47422767C>A Copied from the Exome Variant Server ARAF_000009 49/10557 1/6725 48/3832
1 c.200+44C>G r.(=) p.(=) g.47422772C>G Copied from the Exome Variant Server ARAF_000010 3/10557 0/6725 3/3832
1 c.207G>A r.(=) p.(=) g.47424202G>A Copied from the Exome Variant Server ARAF_000011 1/10561 1/6726 0/3835
1 c.249C>T r.(=) p.(=) g.47424244C>T Copied from the Exome Variant Server ARAF_000012 1/10563 0/6728 1/3835
1 c.303+8C>T r.(=) p.(=) g.47424306C>T Copied from the Exome Variant Server ARAF_000013 1/10563 0/6728 1/3835
1 c.303+17C>T r.(=) p.(=) g.47424315C>T Copied from the Exome Variant Server ARAF_000014 1/10563 0/6728 1/3835
1 c.303+18G>A r.(=) p.(=) g.47424316G>A Copied from the Exome Variant Server ARAF_000015 1/10563 1/6728 0/3835
1 c.303+24G>A r.(=) p.(=) g.47424322G>A Copied from the Exome Variant Server ARAF_000016 1/10563 1/6728 0/3835
1 c.303+37T>G r.(=) p.(=) g.47424335T>G Copied from the Exome Variant Server ARAF_000017 287/10563 2/6728 285/3835
1 c.304-42G>A r.(=) p.(=) g.47424342G>A Copied from the Exome Variant Server ARAF_000018 1/10563 0/6728 1/3835
1 c.458+7C>T r.(=) p.(=) g.47424545C>T Copied from the Exome Variant Server ARAF_000019 1/10562 0/6727 1/3835
1 c.459-27C>T r.(=) p.(=) g.47424615C>T Copied from the Exome Variant Server ARAF_000020 3030/10563 1388/6728 1642/3835
1 c.459-26G>A r.(=) p.(=) g.47424616G>A Copied from the Exome Variant Server ARAF_000021 209/10563 2/6728 207/3835
1 c.459-15C>T r.(=) p.(=) g.47424627C>T Copied from the Exome Variant Server ARAF_000022 1/10563 1/6728 0/3835
1 c.500G>A r.(?) p.(Gly167Asp) g.47424683G>A Copied from the Exome Variant Server ARAF_000023 1/10563 1/6728 0/3835
1 c.507A>T r.(?) p.(Arg169Ser) g.47424690A>T Copied from the Exome Variant Server ARAF_000024 1/10563 0/6728 1/3835
1 c.517G>C r.(?) p.(Ala173Pro) g.47424700G>C Copied from the Exome Variant Server ARAF_000025 1/10563 0/6728 1/3835
1 c.551C>A r.(?) p.(Thr184Asn) g.47424734C>A Copied from the Exome Variant Server ARAF_000026 8/10563 6/6728 2/3835
1 c.567-9C>T r.(=) p.(=) g.47426029C>T Copied from the Exome Variant Server ARAF_000027 1/10563 1/6728 0/3835
1 c.568C>T r.(?) p.(Pro190Ser) g.47426039C>T Copied from the Exome Variant Server ARAF_000028 2/10562 2/6728 0/3834
1 c.571C>T r.(?) p.(Arg191Cys) g.47426042C>T Copied from the Exome Variant Server ARAF_000029 2/10561 0/6727 2/3834
1 c.580C>T r.(?) p.(His194Tyr) g.47426051C>T Copied from the Exome Variant Server ARAF_000030 1/10562 1/6728 0/3834
1 c.624C>G r.(=) p.(=) g.47426095C>G Copied from the Exome Variant Server ARAF_000031 3/10563 3/6728 0/3835
1 c.627C>T r.(=) p.(=) g.47426098C>T Copied from the Exome Variant Server ARAF_000032 1/10563 0/6728 1/3835
1 c.648G>A r.(=) p.(=) g.47426119G>A Copied from the Exome Variant Server ARAF_000033 2/10563 2/6728 0/3835
1 c.705C>G r.(?) p.(Ile235Met) g.47426176C>G Copied from the Exome Variant Server ARAF_000034 1/10563 1/6728 0/3835
1 c.708+9T>C r.(=) p.(=) g.47426188T>C Copied from the Exome Variant Server ARAF_000035 5/10563 0/6728 5/3835
1 c.708+10G>A r.(=) p.(=) g.47426189G>A Copied from the Exome Variant Server ARAF_000036 50/10563 0/6728 50/3835
1 c.708+28G>C r.(=) p.(=) g.47426207G>C Copied from the Exome Variant Server ARAF_000037 1/10563 0/6728 1/3835
1 c.724T>G r.(?) p.(Phe242Val) g.47426298T>G Copied from the Exome Variant Server ARAF_000038 1/10563 1/6728 0/3835
1 c.736+8C>A r.(=) p.(=) g.47426318C>A Copied from the Exome Variant Server ARAF_000039 57/10563 1/6728 56/3835
1 c.736+27C>G r.(=) p.(=) g.47426337C>G Copied from the Exome Variant Server ARAF_000040 2/10563 0/6728 2/3835
1 c.736+32G>A r.(=) p.(=) g.47426342G>A Copied from the Exome Variant Server ARAF_000041 1/10563 0/6728 1/3835
1 c.737-32T>C r.(=) p.(=) g.47426353T>C Copied from the Exome Variant Server ARAF_000043 5/10563 0/6728 5/3835
1 c.737-5T>C r.spl? p.? g.47426380T>C Copied from the Exome Variant Server ARAF_000045 432/10563 4/6728 428/3835
1 c.794G>T r.(?) p.(Ser265Ile) g.47426442G>T Copied from the Exome Variant Server ARAF_000047 4/10563 0/6728 4/3835
1 c.846C>T r.(=) p.(=) g.47426494C>T Copied from the Exome Variant Server ARAF_000049 1/10563 1/6728 0/3835
1 c.847G>A r.(?) p.(Glu283Lys) g.47426495G>A Copied from the Exome Variant Server ARAF_000051 2/10563 1/6728 1/3835
1 c.850C>T r.(?) p.(Arg284Trp) g.47426498C>T Copied from the Exome Variant Server ARAF_000053 1/10563 1/6728 0/3835
1 c.865G>A r.(?) p.(Asp289Asn) g.47426513G>A Copied from the Exome Variant Server ARAF_000055 2/10563 2/6728 0/3835
1 c.868G>A r.(?) p.(Asp290Asn) g.47426516G>A Copied from the Exome Variant Server ARAF_000057 16/10563 0/6728 16/3835
1 c.882+8C>T r.(=) p.(=) g.47426538C>T Copied from the Exome Variant Server ARAF_000059 1/10563 1/6728 0/3835
1 c.883-13A>T r.(=) p.(=) g.47426616A>T Copied from the Exome Variant Server ARAF_000042 142/10563 2/6728 140/3835
1 c.883-11C>G r.(=) p.(=) g.47426618C>G Copied from the Exome Variant Server ARAF_000044 58/10563 55/6728 3/3835
1 c.911A>G r.(?) p.(Tyr304Cys) g.47426657A>G Copied from the Exome Variant Server ARAF_000046 2/10563 1/6728 1/3835
1 c.943C>G r.(?) p.(Leu315Val) g.47426689C>G Copied from the Exome Variant Server ARAF_000048 3/10563 2/6728 1/3835
1 c.957C>T r.(=) p.(=) g.47426703C>T Copied from the Exome Variant Server ARAF_000050 4/10563 0/6728 4/3835
1 c.963G>A r.(=) p.(=) g.47426709G>A Copied from the Exome Variant Server ARAF_000052 1/10563 1/6728 0/3835
1 c.972T>G r.(?) p.(Phe324Leu) g.47426718T>G Copied from the Exome Variant Server ARAF_000054 1/10563 1/6728 0/3835
1 c.978C>T r.(=) p.(=) g.47426724C>T Copied from the Exome Variant Server ARAF_000056 1/10563 0/6728 1/3835
1 c.1011C>T r.(=) p.(=) g.47426757C>T Copied from the Exome Variant Server ARAF_000058 49/10563 44/6728 5/3835
1 c.1085+13G>A r.(=) p.(=) g.47426844G>A Copied from the Exome Variant Server ARAF_000060 1/10552 0/6725 1/3827
1 c.1085+19G>A r.(=) p.(=) g.47426850G>A Copied from the Exome Variant Server ARAF_000061 2/10544 2/6719 0/3825
1 c.1133G>A r.(?) p.(Arg378Gln) g.47428164G>A Copied from the Exome Variant Server ARAF_000062 1/10563 1/6728 0/3835
1 c.1212C>T r.(=) p.(=) g.47428243C>T Copied from the Exome Variant Server ARAF_000063 1/10563 0/6728 1/3835
1 c.1262+10C>T r.(=) p.(=) g.47428303C>T Copied from the Exome Variant Server ARAF_000064 1/10562 1/6728 0/3834
1 c.1262+27G>C r.(=) p.(=) g.47428320G>C Copied from the Exome Variant Server ARAF_000065 4/10560 0/6727 4/3833
1 c.1262+44G>T r.(=) p.(=) g.47428337G>T Copied from the Exome Variant Server ARAF_000066 1/10561 0/6727 1/3834
1 c.1309+51A>G r.(=) p.(=) g.47428483A>G Copied from the Exome Variant Server ARAF_000067 1/10525 1/6695 0/3830
1 c.1310-4G>C r.spl? p.? g.47428934G>C Copied from the Exome Variant Server ARAF_000068 1/10563 1/6728 0/3835
1 c.1310-2G>A r.spl? p.? g.47428936G>A Copied from the Exome Variant Server ARAF_000070 1/10563 0/6728 1/3835
1 c.1318C>T r.(=) p.(=) g.47428946C>T Copied from the Exome Variant Server ARAF_000072 1/10563 1/6728 0/3835
1 c.1340A>G r.(?) p.(Lys447Arg) g.47428968A>G Copied from the Exome Variant Server ARAF_000074 1/10563 1/6728 0/3835
1 c.1383C>T r.(=) p.(=) g.47429011C>T Copied from the Exome Variant Server ARAF_000076 2/10563 0/6728 2/3835
1 c.1422G>A r.(=) p.(=) g.47429050G>A Copied from the Exome Variant Server ARAF_000078 115/10561 2/6728 113/3833
1 c.1428+21_1428+22insG r.(=) p.(=) g.47429077_47429078insG Copied from the Exome Variant Server ARAF_000080 5/10199 2/6480 3/3719
1 c.1428+34G>A r.(=) p.(=) g.47429090G>A Copied from the Exome Variant Server ARAF_000082 2/10557 0/6725 2/3832
1 c.1482C>T r.(=) p.(=) g.47429345C>T Copied from the Exome Variant Server ARAF_000069 8/10562 0/6727 8/3835
1 c.1560+16T>G r.(=) p.(=) g.47429439T>G Copied from the Exome Variant Server ARAF_000071 1/10562 1/6727 0/3835
1 c.1560+18C>T r.(=) p.(=) g.47429441C>T Copied from the Exome Variant Server ARAF_000073 8/10562 7/6727 1/3835
1 c.1560+19C>G r.(=) p.(=) g.47429442C>G Copied from the Exome Variant Server ARAF_000075 4/10562 0/6727 4/3835
1 c.1561-28C>T r.(=) p.(=) g.47430249C>T Copied from the Exome Variant Server ARAF_000077 3/10560 0/6726 3/3834
1 c.1561-7C>A r.(=) p.(=) g.47430270C>A Copied from the Exome Variant Server ARAF_000079 1/10562 1/6727 0/3835
1 c.1580G>A r.(?) p.(Arg527His) g.47430296G>A Copied from the Exome Variant Server ARAF_000081 1/10562 0/6727 1/3835
1 c.1585T>C r.(?) p.(Tyr529His) g.47430301T>C Copied from the Exome Variant Server ARAF_000083 1/10563 0/6728 1/3835
1 c.1695+19T>A r.(=) p.(=) g.47430430T>A Copied from the Exome Variant Server ARAF_000084 1/10556 1/6724 0/3832
1 c.1695+46A>T r.(=) p.(=) g.47430457A>T Copied from the Exome Variant Server ARAF_000085 3785/10552 2590/6725 1195/3827
1 c.1696-51del r.(=) p.(=) g.47430671del Copied from the Exome Variant Server ARAF_000086 1698/10204 1282/6483 416/3721
1 c.1696-41C>T r.(=) p.(=) g.47430681C>T Copied from the Exome Variant Server ARAF_000087 20/10563 0/6728 20/3835
1 c.1696-34C>T r.(=) p.(=) g.47430688C>T Copied from the Exome Variant Server ARAF_000088 9/10563 9/6728 0/3835
1 c.1744C>A r.(=) p.(=) g.47430770C>A Copied from the Exome Variant Server ARAF_000089 1/10563 0/6728 1/3835
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