All transcript variants in gene F8

Information The variants shown are described using the NM_000132.3 transcript reference sequence.

179 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     
?/? c.-25A>G r.(=) p.(=) g.154250852T>C Copied from the Exome Variant Server F8_000141 1/10563 1/6728 0/3835
?/? c.26T>G r.(?) p.(Phe9Cys) g.154250802A>C Copied from the Exome Variant Server F8_000140 1/10563 0/6728 1/3835
?/? c.51C>T r.(=) p.(=) g.154250777G>A Copied from the Exome Variant Server F8_000139 1/10563 1/6728 0/3835
?/? c.69A>G r.(=) p.(=) g.154250759T>C Copied from the Exome Variant Server F8_000138 4/10563 0/6728 4/3835
?/? c.102C>T r.(=) p.(=) g.154250726G>A Copied from the Exome Variant Server F8_000137 4/10563 4/6728 0/3835
?/? c.138C>T r.(=) p.(=) g.154250690G>A Copied from the Exome Variant Server F8_000136 1/10563 0/6728 1/3835
?/? c.139G>A r.(?) p.(Ala47Thr) g.154250689C>T Copied from the Exome Variant Server F8_000135 1/10563 0/6728 1/3835
?/? c.191T>G r.(?) p.(Val64Gly) g.154227828A>C Copied from the Exome Variant Server F8_000134 5/10563 0/6728 5/3835
?/? c.266-19G>A r.(=) p.(=) g.154225389C>T Copied from the Exome Variant Server F8_000133 81/10563 2/6728 79/3835
?/? c.323A>C r.(?) p.(Lys108Thr) g.154225313T>G Copied from the Exome Variant Server F8_000132 1/10563 0/6728 1/3835
?/? c.384T>G r.(=) p.(=) g.154225252A>C Copied from the Exome Variant Server F8_000131 1/10563 1/6728 0/3835
?/? c.388+35T>G r.(=) p.(=) g.154225213A>C Copied from the Exome Variant Server F8_000130 1/10563 1/6728 0/3835
?/? c.389-9C>T r.(=) p.(=) g.154221432G>A Copied from the Exome Variant Server F8_000129 5/10563 2/6728 3/3835
?/? c.396A>C r.(?) p.(Glu132Asp) g.154221416T>G Copied from the Exome Variant Server F8_000128 1/10563 1/6728 0/3835
?/? c.546C>T r.(=) p.(=) g.154221266G>A Copied from the Exome Variant Server F8_000127 1/10563 0/6728 1/3835
?/? c.601+17G>A r.(=) p.(=) g.154221194C>T Copied from the Exome Variant Server F8_000126 5/10563 1/6728 4/3835
?/? c.604A>G r.(?) p.(Ser202Gly) g.154215578T>C Copied from the Exome Variant Server F8_000125 1/10562 1/6727 0/3835
?/? c.643A>G r.(?) p.(Ile215Val) g.154215539T>C Copied from the Exome Variant Server F8_000124 1/10563 1/6728 0/3835
?/? c.670+31C>G r.(=) p.(=) g.154215481G>C Copied from the Exome Variant Server F8_000123 84/10560 0/6725 84/3835
?/? c.671-32G>T r.(=) p.(=) g.154213110C>A Copied from the Exome Variant Server F8_000122 1/10563 0/6728 1/3835
?/? c.719A>T r.(?) p.(Asp240Val) g.154213030T>A Copied from the Exome Variant Server F8_000121 1/10563 0/6728 1/3835
?/? c.787+20A>G r.(=) p.(=) g.154212942T>C Copied from the Exome Variant Server F8_000119 1/10563 1/6728 0/3835
?/? c.787+22A>G r.(=) p.(=) g.154212940T>C Copied from the Exome Variant Server F8_000118 1/10563 1/6728 0/3835
?/? c.788-41C>A r.(=) p.(=) g.154197868G>T Copied from the Exome Variant Server F8_000117 2/10563 0/6728 2/3835
?/? c.788-24A>G r.(=) p.(=) g.154197851T>C Copied from the Exome Variant Server F8_000116 1/10563 1/6728 0/3835
?/? c.919A>G r.(?) p.(Ile307Val) g.154197696T>C Copied from the Exome Variant Server F8_000115 1/10563 1/6728 0/3835
?/? c.1010-27G>A r.(=) p.(=) g.154194989C>T Copied from the Exome Variant Server F8_000114 1570/10563 1001/6728 569/3835
?/? c.1010-8G>A r.(=) p.(=) g.154194970C>T Copied from the Exome Variant Server F8_000113 1/10563 1/6728 0/3835
?/? c.1064G>A r.(?) p.(Arg355Gln) g.154194908C>T Copied from the Exome Variant Server F8_000112 5/10563 4/6728 1/3835
?/? c.1086G>A r.(=) p.(=) g.154194886C>T Copied from the Exome Variant Server F8_000111 132/10563 0/6728 132/3835
?/? c.1090G>A r.(?) p.(Asp364Asn) g.154194882C>T Copied from the Exome Variant Server F8_000069 1/10563 1/6728 0/3835
?/? c.1094A>G r.(?) p.(Tyr365Cys) g.154194878T>C Copied from the Exome Variant Server F8_000068 1/10563 1/6728 0/3835
?/? c.1107T>C r.(=) p.(=) g.154194865A>G Copied from the Exome Variant Server F8_000067 1/10563 1/6728 0/3835
?/? c.1139A>G r.(?) p.(Asp380Gly) g.154194833T>C Copied from the Exome Variant Server F8_000066 1/10563 0/6728 1/3835
?/? c.1204G>A r.(?) p.(Val402Ile) g.154194768C>T Copied from the Exome Variant Server F8_000065 1/10563 1/6728 0/3835
?/? c.1263C>T r.(=) p.(=) g.154194709G>A Copied from the Exome Variant Server F8_000064 2/10563 2/6728 0/3835
?/? c.1271+17T>C r.(=) p.(=) g.154194684A>G Copied from the Exome Variant Server F8_000063 1/10563 0/6728 1/3835
?/? c.1272-5T>C r.spl? p.? g.154194421A>G Copied from the Exome Variant Server F8_000062 2/10563 2/6728 0/3835
?/? c.1401C>A r.(=) p.(=) g.154194287G>T Copied from the Exome Variant Server F8_000061 1/10563 0/6728 1/3835
?/? c.1436C>A r.(?) p.(Thr479Lys) g.154194252G>T Copied from the Exome Variant Server F8_000060 1/10563 0/6728 1/3835
?/? c.1444-22T>C r.(=) p.(=) g.154189465A>G Copied from the Exome Variant Server F8_000059 128/10563 0/6728 128/3835
?/? c.1501G>A r.(?) p.(Asp501Asn) g.154189386C>T Copied from the Exome Variant Server F8_000058 1/10563 0/6728 1/3835
?/? c.1508G>A r.(?) p.(Arg503His) g.154189379C>T Copied from the Exome Variant Server F8_000057 81/10563 0/6728 81/3835
?/? c.1509T>C r.(=) p.(=) g.154189378A>G Copied from the Exome Variant Server F8_000056 2/10563 0/6728 2/3835
?/? c.1538-35C>G r.(=) p.(=) g.154185481G>C Copied from the Exome Variant Server F8_000055 2/10562 0/6727 2/3835
?/? c.1621A>T r.(?) p.(Thr541Ser) g.154185363T>A Copied from the Exome Variant Server F8_000054 1/10563 1/6728 0/3835
?/? c.1636C>T r.(?) p.(Arg546Trp) g.154185348G>A Copied from the Exome Variant Server F8_000053 1/10563 1/6728 0/3835
?/? c.1637G>A r.(?) p.(Arg546Gln) g.154185347C>T Copied from the Exome Variant Server F8_000052 2/10563 0/6728 2/3835
?/? c.1666G>A r.(?) p.(Val556Ile) g.154185318C>T Copied from the Exome Variant Server F8_000051 2/10563 1/6728 1/3835
?/? c.1718G>A r.(?) p.(Cys573Tyr) g.154185266C>T Copied from the Exome Variant Server F8_000050 1/10563 1/6728 0/3835
?/? c.1752+23G>A r.(=) p.(=) g.154185209C>T Copied from the Exome Variant Server F8_000049 6/10563 0/6728 6/3835
?/? c.1753-44A>G r.(=) p.(=) g.154182361T>C Copied from the Exome Variant Server F8_000048 51/10563 0/6728 51/3835
?/? c.1753-23C>G r.(=) p.(=) g.154182340G>C Copied from the Exome Variant Server F8_000047 1/10563 0/6728 1/3835
?/? c.1753-13A>G r.(=) p.(=) g.154182330T>C Copied from the Exome Variant Server F8_000046 1/10563 1/6728 0/3835
?/? c.1816C>T r.(?) p.(Leu606Phe) g.154182254G>A Copied from the Exome Variant Server F8_000110 1/10563 0/6728 1/3835
?/? c.1824G>A r.(=) p.(=) g.154182246C>T Copied from the Exome Variant Server F8_000109 1/10563 0/6728 1/3835
?/? c.1847A>G r.(?) p.(Asn616Ser) g.154182223T>C Copied from the Exome Variant Server F8_000108 1/10563 1/6728 0/3835
?/? c.1866T>C r.(=) p.(=) g.154182204A>G Copied from the Exome Variant Server F8_000045 5/10563 5/6728 0/3835
?/? c.1904-51A>G r.(=) p.(=) g.154176233T>C Copied from the Exome Variant Server F8_000044 1/10561 0/6726 1/3835
?/? c.1904-37G>C r.(=) p.(=) g.154176219C>G Copied from the Exome Variant Server F8_000043 1/10563 1/6728 0/3835
?/? c.1904-36A>G r.(=) p.(=) g.154176218T>C Copied from the Exome Variant Server F8_000042 1/10563 0/6728 1/3835
?/? c.1904-28A>T r.(=) p.(=) g.154176210T>A Copied from the Exome Variant Server F8_000041 1/10563 0/6728 1/3835
?/? c.1904-12T>C r.(=) p.(=) g.154176194A>G Copied from the Exome Variant Server F8_000040 1/10563 1/6728 0/3835
?/? c.2113+47T>G r.(=) p.(=) g.154175926A>C Copied from the Exome Variant Server F8_000039 5/10563 5/6728 0/3835
?/? c.2114-17T>C r.(=) p.(=) g.154159968A>G Copied from the Exome Variant Server F8_000038 2/10534 0/6707 2/3827
?/? c.2212T>G r.(?) p.(Tyr738Asp) g.154159853A>C Copied from the Exome Variant Server F8_000037 1/10562 1/6727 0/3835
?/? c.2214C>T r.(=) p.(=) g.154159851G>A Copied from the Exome Variant Server F8_000036 17/10562 0/6727 17/3835
?/? c.2223T>G r.(?) p.(Ser741Arg) g.154159842A>C Copied from the Exome Variant Server F8_000035 1/10562 1/6727 0/3835
?/? c.2271A>C r.(?) p.(Glu757Asp) g.154159794T>G Copied from the Exome Variant Server F8_000034 1/10563 1/6728 0/3835
?/? c.2309C>G r.(?) p.(Thr770Ser) g.154159756G>C Copied from the Exome Variant Server F8_000033 1/10561 1/6726 0/3835
?/? c.2336C>G r.(?) p.(Thr779Arg) g.154159729G>C Copied from the Exome Variant Server F8_000032 1/10563 0/6728 1/3835
?/? c.2385A>G r.(=) p.(=) g.154159680T>C Copied from the Exome Variant Server F8_000031 1/10563 0/6728 1/3835
?/? c.2453C>T r.(?) p.(Thr818Ile) g.154159612G>A Copied from the Exome Variant Server F8_000030 9/10562 0/6727 9/3835
?/? c.2579T>C r.(?) p.(Leu860Pro) g.154159486A>G Copied from the Exome Variant Server F8_000029 1/10561 0/6726 1/3835
?/? c.2595C>G r.(?) p.(Asp865Glu) g.154159470G>C Copied from the Exome Variant Server F8_000028 1/10560 1/6725 0/3835
?/? c.2696G>A r.(?) p.(Ser899Asn) g.154159369C>T Copied from the Exome Variant Server F8_000027 2/10563 2/6728 0/3835
?/? c.2735A>G r.(?) p.(Asn912Ser) g.154159330T>C Copied from the Exome Variant Server F8_000026 1/10563 0/6728 1/3835
?/? c.2803C>G r.(?) p.(Gln935Glu) g.154159262G>C Copied from the Exome Variant Server F8_000025 1/10559 1/6726 0/3833
?/? c.2839C>T r.(?) p.(Pro947Ser) g.154159226G>A Copied from the Exome Variant Server F8_000024 2/10558 0/6725 2/3833
?/? c.2852C>G r.(?) p.(Ser951Cys) g.154159213G>C Copied from the Exome Variant Server F8_000023 1/10560 1/6727 0/3833
?/? c.2930G>A r.(?) p.(Ser977Asn) g.154159135C>T Copied from the Exome Variant Server F8_000022 1/10561 1/6726 0/3835
?/? c.2947G>A r.(?) p.(Val983Ile) g.154159118C>T Copied from the Exome Variant Server F8_000021 21/10561 0/6726 21/3835
?/? c.2994T>G r.(?) p.(His998Gln) g.154159071A>C Copied from the Exome Variant Server F8_000107 59/10561 0/6726 59/3835
?/? c.3167C>T r.(?) p.(Thr1056Ile) g.154158898G>A Copied from the Exome Variant Server F8_000106 1/10563 0/6728 1/3835
?/? c.3236G>A r.(?) p.(Arg1079Lys) g.154158829C>T Copied from the Exome Variant Server F8_000105 27/10563 0/6728 27/3835
?/? c.3263C>T r.(?) p.(Thr1088Ile) g.154158802G>A Copied from the Exome Variant Server F8_000104 11/10561 0/6726 11/3835
?/? c.3280G>C r.(?) p.(Glu1094Gln) g.154158785C>G Copied from the Exome Variant Server F8_000103 1/10561 1/6726 0/3835
?/? c.3303G>T r.(?) p.(Glu1101Asp) g.154158762C>A Copied from the Exome Variant Server F8_000102 1/10561 1/6726 0/3835
?/? c.3342G>A r.(=) p.(=) g.154158723C>T Copied from the Exome Variant Server F8_000101 1/10560 1/6725 0/3835
?/? c.3376A>T r.(?) p.(Arg1126Trp) g.154158689T>A Copied from the Exome Variant Server F8_000100 1/10561 0/6726 1/3835
?/? c.3438G>A r.(=) p.(=) g.154158627C>T Copied from the Exome Variant Server F8_000099 1/10557 1/6726 0/3831
?/? c.3621C>T r.(=) p.(=) g.154158444G>A Copied from the Exome Variant Server F8_000098 46/10554 0/6719 46/3835
?/? c.3674A>G r.(?) p.(Gln1225Arg) g.154158391T>C Copied from the Exome Variant Server F8_000097 1/10557 1/6724 0/3833
?/? c.3701A>T r.(?) p.(His1234Leu) g.154158364T>A Copied from the Exome Variant Server F8_000096 1/10561 1/6726 0/3835
?/? c.3713G>C r.(?) p.(Gly1238Ala) g.154158352C>G Copied from the Exome Variant Server F8_000095 2/10561 2/6728 0/3833
?/? c.3780C>G r.(?) p.(Asp1260Glu) g.154158285G>C Copied from the Exome Variant Server F8_000120 3660/10562 1168/6727 2492/3835
?/? c.3825T>C r.(=) p.(=) g.154158240A>G Copied from the Exome Variant Server F8_000171 3/10560 1/6725 2/3835
?/? c.3836G>A r.(?) p.(Arg1279Lys) g.154158229C>T Copied from the Exome Variant Server F8_000170 4/10560 0/6725 4/3835
?/? c.3864A>C r.(=) p.(=) g.154158201T>G Copied from the Exome Variant Server F8_000169 846/10562 608/6727 238/3835
?/? c.3876G>A r.(=) p.(=) g.154158189C>T Copied from the Exome Variant Server F8_000168 2/10562 0/6727 2/3835
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