Full data view for gene AFF2

Information The variants shown are described using the NM_002025.3 transcript reference sequence.

150 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.-49C>G r.(=) p.(=) g.147582569C>G Copied from the Exome Variant Server AFF2_000144 1/10503 0/6688 1/3815 - - - - - - -
?/? c.-47G>T r.(=) p.(=) g.147582571G>T Copied from the Exome Variant Server AFF2_000113 3/10509 3/6696 0/3813 - - - - - - -
?/? c.-39C>T r.(=) p.(=) g.147582579C>T Copied from the Exome Variant Server AFF2_000114 1/10533 1/6713 0/3820 - - - - - - -
?/? c.-24G>A r.(=) p.(=) g.147582594G>A Copied from the Exome Variant Server AFF2_000001 5/10550 4/6725 1/3825 - - - - - - -
?/? c.-22_-20del r.(=) p.(=) g.147582596_147582598del Copied from the Exome Variant Server AFF2_000002 1489/10191 858/6479 631/3712 - - - - - - -
?/? c.47+30A>T r.(=) p.(=) g.147582694A>T Copied from the Exome Variant Server AFF2_000003 13/10563 13/6728 0/3835 - - - - - - -
?/? c.47+54_47+55del r.(=) p.(=) g.147582718_147582719del Copied from the Exome Variant Server AFF2_000004 1/10205 0/6484 1/3721 - - - - - - -
?/? c.64C>T r.(?) p.(Arg22Cys) g.147733536C>T Copied from the Exome Variant Server AFF2_000104 1/10562 1/6727 0/3835 - - - - - - -
?/? c.94C>T r.(?) p.(Arg32Trp) g.147733566C>T Copied from the Exome Variant Server AFF2_000105 1/10563 0/6728 1/3835 - - - - - - -
?/? c.105A>G r.(=) p.(=) g.147733577A>G Copied from the Exome Variant Server AFF2_000106 1/10563 0/6728 1/3835 - - - - - - -
?/? c.137C>T r.(?) p.(Ser46Leu) g.147733609C>T Copied from the Exome Variant Server AFF2_000107 1/10563 0/6728 1/3835 - - - - - - -
?/? c.173C>T r.(?) p.(Ala58Val) g.147733645C>T Copied from the Exome Variant Server AFF2_000108 1/10563 0/6728 1/3835 - - - - - - -
?/? c.180+19T>C r.(=) p.(=) g.147733671T>C Copied from the Exome Variant Server AFF2_000109 2/10563 2/6728 0/3835 - - - - - - -
?/? c.180+38A>G r.(=) p.(=) g.147733690A>G Copied from the Exome Variant Server AFF2_000110 1/10561 0/6726 1/3835 - - - - - - -
?/? c.180+41T>A r.(=) p.(=) g.147733693T>A Copied from the Exome Variant Server AFF2_000111 4/10561 3/6726 1/3835 - - - - - - -
?/? c.233A>G r.(?) p.(Tyr78Cys) g.147743481A>G Copied from the Exome Variant Server AFF2_000112 1/10563 1/6728 0/3835 - - - - - - -
?/? c.283G>T r.(?) p.(Val95Leu) g.147743531G>T Copied from the Exome Variant Server AFF2_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.294A>G r.(=) p.(=) g.147743542A>G Copied from the Exome Variant Server AFF2_000006 2/10563 2/6728 0/3835 - - - - - - -
?/? c.393T>C r.(=) p.(=) g.147743641T>C Copied from the Exome Variant Server AFF2_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.493A>G r.(?) p.(Asn165Asp) g.147743741A>G Copied from the Exome Variant Server AFF2_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.496C>T r.(?) p.(Pro166Ser) g.147743744C>T Copied from the Exome Variant Server AFF2_000009 11/10563 11/6728 0/3835 - - - - - - -
?/? c.541A>G r.(?) p.(Met181Val) g.147743789A>G Copied from the Exome Variant Server AFF2_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.561C>A r.(?) p.(Asp187Glu) g.147743809C>A Copied from the Exome Variant Server AFF2_000011 2/10563 2/6728 0/3835 - - - - - - -
?/? c.605A>C r.(?) p.(Glu202Ala) g.147743853A>C Copied from the Exome Variant Server AFF2_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.617T>C r.(?) p.(Ile206Thr) g.147743865T>C Copied from the Exome Variant Server AFF2_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.732C>T r.(=) p.(=) g.147743980C>T Copied from the Exome Variant Server AFF2_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.733G>A r.(?) p.(Ala245Thr) g.147743981G>A Copied from the Exome Variant Server AFF2_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.736G>A r.(?) p.(Val246Met) g.147743984G>A Copied from the Exome Variant Server AFF2_000016 3/10563 0/6728 3/3835 - - - - - - -
?/? c.891G>A r.(=) p.(=) g.147744139G>A Copied from the Exome Variant Server AFF2_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.896C>T r.(?) p.(Pro299Leu) g.147744144C>T Copied from the Exome Variant Server AFF2_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.936G>A r.(=) p.(=) g.147744184G>A Copied from the Exome Variant Server AFF2_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.974A>T r.(?) p.(Asp325Val) g.147744222A>T Copied from the Exome Variant Server AFF2_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1041+56448G>A r.(=) p.(=) g.147800737G>A Copied from the Exome Variant Server AFF2_000021 40/3600 34/2391 6/1209 - - - - - - -
?/? c.1062A>G r.(=) p.(=) g.147891420A>G Copied from the Exome Variant Server AFF2_000145 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1085G>A r.(?) p.(Arg362Gln) g.147891443G>A Copied from the Exome Variant Server AFF2_000146 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1086+32A>G r.(=) p.(=) g.147891476A>G Copied from the Exome Variant Server AFF2_000147 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1086+47T>C r.(=) p.(=) g.147891491T>C Copied from the Exome Variant Server AFF2_000148 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1086+58G>A r.(=) p.(=) g.147891502G>A Copied from the Exome Variant Server AFF2_000149 1/3600 1/2391 0/1209 - - - - - - -
?/? c.1097A>G r.(?) p.(His366Arg) g.147919181A>G Copied from the Exome Variant Server AFF2_000047 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1123A>G r.(?) p.(Met375Val) g.147919207A>G Copied from the Exome Variant Server AFF2_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1160C>A r.(?) p.(Ser387Tyr) g.147919244C>A Copied from the Exome Variant Server AFF2_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1173+23T>G r.(=) p.(=) g.147919280T>G Copied from the Exome Variant Server AFF2_000050 46/10563 43/6728 3/3835 - - - - - - -
?/? c.1173+34C>G r.(=) p.(=) g.147919291C>G Copied from the Exome Variant Server AFF2_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1173+46A>G r.(=) p.(=) g.147919303A>G Copied from the Exome Variant Server AFF2_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1174-22T>A r.(=) p.(=) g.147924468T>A Copied from the Exome Variant Server AFF2_000053 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1179G>A r.(=) p.(=) g.147924495G>A Copied from the Exome Variant Server AFF2_000054 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1233A>G r.(=) p.(=) g.147924928A>G Copied from the Exome Variant Server AFF2_000055 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1263-48T>A r.(=) p.(=) g.147967371T>A Copied from the Exome Variant Server AFF2_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1263-15C>G r.(=) p.(=) g.147967404C>G Copied from the Exome Variant Server AFF2_000057 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1287G>T r.(=) p.(=) g.147967443G>T Copied from the Exome Variant Server AFF2_000058 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1330A>G r.(?) p.(Thr444Ala) g.147967486A>G Copied from the Exome Variant Server AFF2_000059 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1353C>G r.(=) p.(=) g.147967509C>G Copied from the Exome Variant Server AFF2_000060 42/10563 0/6728 42/3835 - - - - - - -
?/? c.1359+29G>A r.(=) p.(=) g.147967544G>A Copied from the Exome Variant Server AFF2_000061 368/10563 348/6728 20/3835 - - - - - - -
?/? c.1359+36G>T r.(=) p.(=) g.147967551G>T Copied from the Exome Variant Server AFF2_000062 34/10563 2/6728 32/3835 - - - - - - -
?/? c.1359+37G>T r.(=) p.(=) g.147967552G>T Copied from the Exome Variant Server AFF2_000063 458/10563 413/6728 45/3835 - - - - - - -
?/? c.1393G>T r.(?) p.(Val465Leu) g.147985784G>T Copied from the Exome Variant Server AFF2_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1397+35T>G r.(=) p.(=) g.147985823T>G Copied from the Exome Variant Server AFF2_000023 1/10561 0/6728 1/3833 - - - - - - -
?/? c.1397+41C>T r.(=) p.(=) g.147985829C>T Copied from the Exome Variant Server AFF2_000024 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1397+44A>T r.(=) p.(=) g.147985832A>T Copied from the Exome Variant Server AFF2_000025 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1442G>A r.(?) p.(Ser481Asn) g.148035154G>A Copied from the Exome Variant Server AFF2_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1445G>C r.(?) p.(Gly482Ala) g.148035157G>C Copied from the Exome Variant Server AFF2_000027 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1485G>T r.(?) p.(Glu495Asp) g.148035197G>T Copied from the Exome Variant Server AFF2_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1488G>A r.(=) p.(=) g.148035200G>A Copied from the Exome Variant Server AFF2_000029 1818/10563 287/6728 1531/3835 - - - - - - -
?/? c.1541G>A r.(?) p.(Arg514His) g.148035253G>A Copied from the Exome Variant Server AFF2_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1558-39G>C r.(=) p.(=) g.148037094G>C Copied from the Exome Variant Server AFF2_000031 1/10561 0/6727 1/3834 - - - - - - -
?/? c.1558-37G>A r.(=) p.(=) g.148037096G>A Copied from the Exome Variant Server AFF2_000032 1424/10562 283/6728 1141/3834 - - - - - - -
?/? c.1558-27T>C r.(=) p.(=) g.148037106T>C Copied from the Exome Variant Server AFF2_000033 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1558-21C>G r.(=) p.(=) g.148037112C>G Copied from the Exome Variant Server AFF2_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1608A>G r.(=) p.(=) g.148037183A>G Copied from the Exome Variant Server AFF2_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1653A>G r.(=) p.(=) g.148037228A>G Copied from the Exome Variant Server AFF2_000036 326/10563 2/6728 324/3835 - - - - - - -
?/? c.1677T>C r.(=) p.(=) g.148037252T>C Copied from the Exome Variant Server AFF2_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1682C>A r.(?) p.(Pro561Gln) g.148037257C>A Copied from the Exome Variant Server AFF2_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1721C>T r.(?) p.(Thr574Met) g.148037296C>T Copied from the Exome Variant Server AFF2_000039 3/10563 1/6728 2/3835 - - - - - - -
?/? c.1725T>C r.(=) p.(=) g.148037300T>C Copied from the Exome Variant Server AFF2_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1733A>G r.(?) p.(Gln578Arg) g.148037308A>G Copied from the Exome Variant Server AFF2_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1788C>A r.(=) p.(=) g.148037363C>A Copied from the Exome Variant Server AFF2_000042 12/10563 10/6728 2/3835 - - - - - - -
?/? c.1795C>T r.(?) p.(Arg599Trp) g.148037370C>T Copied from the Exome Variant Server AFF2_000043 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1834C>G r.(?) p.(His612Asp) g.148037409C>G Copied from the Exome Variant Server AFF2_000044 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1842G>T r.(?) p.(Leu614Phe) g.148037417G>T Copied from the Exome Variant Server AFF2_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1858A>G r.(?) p.(Thr620Ala) g.148037433A>G Copied from the Exome Variant Server AFF2_000046 8/10563 0/6728 8/3835 - - - - - - -
?/? c.1924G>A r.(?) p.(Glu642Lys) g.148037499G>A Copied from the Exome Variant Server AFF2_000150 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1940A>G r.(?) p.(Lys647Arg) g.148037515A>G Copied from the Exome Variant Server AFF2_000140 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1942C>T r.(?) p.(Pro648Ser) g.148037517C>T Copied from the Exome Variant Server AFF2_000141 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2065C>T r.(?) p.(Pro689Ser) g.148037640C>T Copied from the Exome Variant Server AFF2_000142 13/10563 13/6728 0/3835 - - - - - - -
?/? c.2078_2080del r.(?) p.(Lys696del) g.148037653_148037655del Copied from the Exome Variant Server AFF2_000143 1/10205 1/6484 0/3721 - - - - - - -
?/? c.2096G>A r.(?) p.(Gly699Glu) g.148037671G>A Copied from the Exome Variant Server AFF2_000138 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2167G>A r.(?) p.(Asp723Asn) g.148037742G>A Copied from the Exome Variant Server AFF2_000139 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2181C>T r.(=) p.(=) g.148037756C>T Copied from the Exome Variant Server AFF2_000134 11/10563 0/6728 11/3835 - - - - - - -
?/? c.2204C>T r.(?) p.(Pro735Leu) g.148037779C>T Copied from the Exome Variant Server AFF2_000135 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2351T>G r.(?) p.(Met784Arg) g.148037926T>G Copied from the Exome Variant Server AFF2_000136 4/10563 4/6728 0/3835 - - - - - - -
?/? c.2357C>G r.(?) p.(Thr786Ser) g.148037932C>G Copied from the Exome Variant Server AFF2_000137 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2424C>T r.(=) p.(=) g.148037999C>T Copied from the Exome Variant Server AFF2_000128 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2462C>A r.(?) p.(Ala821Glu) g.148038037C>A Copied from the Exome Variant Server AFF2_000129 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2535G>A r.(=) p.(=) g.148038110G>A Copied from the Exome Variant Server AFF2_000130 3/10563 0/6728 3/3835 - - - - - - -
?/? c.2545C>T r.(?) p.(Pro849Ser) g.148038120C>T Copied from the Exome Variant Server AFF2_000131 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2568+31T>C r.(=) p.(=) g.148038174T>C Copied from the Exome Variant Server AFF2_000132 1/10560 0/6725 1/3835 - - - - - - -
?/? c.2569-21G>A r.(=) p.(=) g.148039846G>A Copied from the Exome Variant Server AFF2_000133 18/10563 0/6728 18/3835 - - - - - - -
?/? c.2712A>G r.(=) p.(=) g.148044266A>G Copied from the Exome Variant Server AFF2_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2780G>A r.(?) p.(Arg927His) g.148044334G>A Copied from the Exome Variant Server AFF2_000065 6/10563 6/6728 0/3835 - - - - - - -
?/? c.2788G>A r.(?) p.(Val930Ile) g.148044342G>A Copied from the Exome Variant Server AFF2_000066 1/10563 0/6728 1/3835 - - - - - - -
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