All transcript variants in gene FMR1NB

Information The variants shown are described using the NM_152578.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-49G>A r.(=) p.(=) g.147062874G>A Copied from the Exome Variant Server FMR1NB_000001 3/10563 2/6728 1/3835
?/? c.-44G>A r.(=) p.(=) g.147062879G>A Copied from the Exome Variant Server FMR1NB_000002 1/10563 0/6728 1/3835
?/? c.-27C>T r.(=) p.(=) g.147062896C>T Copied from the Exome Variant Server FMR1NB_000003 36/10563 0/6728 36/3835
?/? c.-23T>C r.(=) p.(=) g.147062900T>C Copied from the Exome Variant Server FMR1NB_000004 2/10563 2/6728 0/3835
?/? c.-19C>T r.(=) p.(=) g.147062904C>T Copied from the Exome Variant Server FMR1NB_000005 2/10563 2/6728 0/3835
?/? c.-18G>A r.(=) p.(=) g.147062905G>A Copied from the Exome Variant Server FMR1NB_000006 1/10563 1/6728 0/3835
?/? c.-13G>A r.(=) p.(=) g.147062910G>A Copied from the Exome Variant Server FMR1NB_000007 37/10563 1/6728 36/3835
?/? c.-7C>T r.(=) p.(=) g.147062916C>T Copied from the Exome Variant Server FMR1NB_000008 1/10563 1/6728 0/3835
?/? c.-6G>A r.(=) p.(=) g.147062917G>A Copied from the Exome Variant Server FMR1NB_000009 10/10563 1/6728 9/3835
?/? c.29G>C r.(?) p.(Gly10Ala) g.147062951G>C Copied from the Exome Variant Server FMR1NB_000010 1/10563 1/6728 0/3835
?/? c.58C>T r.(?) p.(Arg20Cys) g.147062980C>T Copied from the Exome Variant Server FMR1NB_000011 1/10563 1/6728 0/3835
?/? c.95C>T r.(?) p.(Ala32Val) g.147063017C>T Copied from the Exome Variant Server FMR1NB_000012 3/10563 0/6728 3/3835
?/? c.108G>C r.(=) p.(=) g.147063030G>C Copied from the Exome Variant Server FMR1NB_000013 1/10563 1/6728 0/3835
?/? c.110A>G r.(?) p.(Asn37Ser) g.147063032A>G Copied from the Exome Variant Server FMR1NB_000014 1/10563 1/6728 0/3835
?/? c.115G>A r.(?) p.(Glu39Lys) g.147063037G>A Copied from the Exome Variant Server FMR1NB_000015 1/10563 1/6728 0/3835
?/? c.136G>A r.(?) p.(Glu46Lys) g.147063058G>A Copied from the Exome Variant Server FMR1NB_000016 1/10563 0/6728 1/3835
?/? c.142G>A r.(?) p.(Ala48Thr) g.147063064G>A Copied from the Exome Variant Server FMR1NB_000017 3/10563 0/6728 3/3835
?/? c.190C>T r.(?) p.(Arg64Trp) g.147063112C>T Copied from the Exome Variant Server FMR1NB_000018 1/10563 1/6728 0/3835
?/? c.207T>C r.(=) p.(=) g.147063129T>C Copied from the Exome Variant Server FMR1NB_000019 2/10563 2/6728 0/3835
?/? c.214C>G r.(?) p.(Leu72Val) g.147063136C>G Copied from the Exome Variant Server FMR1NB_000020 1/10563 1/6728 0/3835
?/? c.216C>T r.(=) p.(=) g.147063138C>T Copied from the Exome Variant Server FMR1NB_000021 2/10563 0/6728 2/3835
?/? c.259T>C r.(?) p.(Ser87Pro) g.147063181T>C Copied from the Exome Variant Server FMR1NB_000022 1/10563 1/6728 0/3835
?/? c.261_263del r.(?) p.(Tyr89del) g.147063183_147063185del Copied from the Exome Variant Server FMR1NB_000023 1/10205 0/6484 1/3721
?/? c.278-49G>A r.(=) p.(=) g.147084672G>A Copied from the Exome Variant Server FMR1NB_000024 177/10563 0/6728 177/3835
?/? c.278-39_278-38insTT r.(=) p.(=) g.147084682_147084683insTT Copied from the Exome Variant Server FMR1NB_000025 1/10205 0/6484 1/3721
?/? c.278-7T>C r.(=) p.(=) g.147084714T>C Copied from the Exome Variant Server FMR1NB_000035 1/10563 1/6728 0/3835
?/? c.398-25T>C r.(=) p.(=) g.147088197T>C Copied from the Exome Variant Server FMR1NB_000036 2/10563 0/6728 2/3835
?/? c.398-22C>T r.(=) p.(=) g.147088200C>T Copied from the Exome Variant Server FMR1NB_000037 18/10563 15/6728 3/3835
?/? c.425C>T r.(?) p.(Ala142Val) g.147088249C>T Copied from the Exome Variant Server FMR1NB_000038 3862/10563 2473/6728 1389/3835
?/? c.492A>T r.(=) p.(=) g.147088316A>T Copied from the Exome Variant Server FMR1NB_000039 6/10563 0/6728 6/3835
?/? c.495A>G r.(=) p.(=) g.147088319A>G Copied from the Exome Variant Server FMR1NB_000040 1/10563 1/6728 0/3835
?/? c.498G>A r.(=) p.(=) g.147088322G>A Copied from the Exome Variant Server FMR1NB_000041 1/10563 1/6728 0/3835
?/? c.506C>T r.(?) p.(Thr169Met) g.147088330C>T Copied from the Exome Variant Server FMR1NB_000042 1/10563 0/6728 1/3835
?/? c.510C>T r.(=) p.(=) g.147088334C>T Copied from the Exome Variant Server FMR1NB_000043 1/10563 1/6728 0/3835
?/? c.522T>G r.(?) p.(Phe174Leu) g.147088346T>G Copied from the Exome Variant Server FMR1NB_000044 1/10563 1/6728 0/3835
?/? c.538+9T>C r.(=) p.(=) g.147088371T>C Copied from the Exome Variant Server FMR1NB_000045 1/10563 1/6728 0/3835
?/? c.613C>T r.(?) p.(Arg205Cys) g.147090212C>T Copied from the Exome Variant Server FMR1NB_000046 1/10563 1/6728 0/3835
?/? c.632+29G>A r.(=) p.(=) g.147090260G>A Copied from the Exome Variant Server FMR1NB_000047 1/10563 0/6728 1/3835
?/? c.632+34T>C r.(=) p.(=) g.147090265T>C Copied from the Exome Variant Server FMR1NB_000026 1/10563 1/6728 0/3835
?/? c.632+42C>T r.(=) p.(=) g.147090273C>T Copied from the Exome Variant Server FMR1NB_000027 1/10563 1/6728 0/3835
?/? c.632+45G>A r.(=) p.(=) g.147090276G>A Copied from the Exome Variant Server FMR1NB_000028 1845/10563 420/6728 1425/3835
?/? c.633C>T r.(=) p.(=) g.147106385C>T Copied from the Exome Variant Server FMR1NB_000029 8/10563 0/6728 8/3835
?/? c.639G>A r.(=) p.(=) g.147106391G>A Copied from the Exome Variant Server FMR1NB_000030 2/10563 0/6728 2/3835
?/? c.648T>G r.(?) p.(Asp216Glu) g.147106400T>G Copied from the Exome Variant Server FMR1NB_000031 2/10563 2/6728 0/3835
?/? c.739A>G r.(?) p.(Arg247Gly) g.147106491A>G Copied from the Exome Variant Server FMR1NB_000032 1/10562 1/6727 0/3835
?/? c.750G>A r.(=) p.(=) g.147106502G>A Copied from the Exome Variant Server FMR1NB_000033 1/10562 0/6727 1/3835
?/? c.763G>A r.(?) p.(Glu255Lys) g.147106515G>A Copied from the Exome Variant Server FMR1NB_000034 1/10562 1/6727 0/3835
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