All transcript variants in gene FRMD7

Information The variants shown are described using the NM_194277.2 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-14C>T r.(=) p.(=) g.131261886G>A Copied from the Exome Variant Server FRMD7_000071 10/10563 10/6728 0/3835
?/? c.-8C>T r.(=) p.(=) g.131261880G>A Copied from the Exome Variant Server FRMD7_000070 1/10563 0/6728 1/3835
?/? c.69C>T r.(=) p.(=) g.131234733G>A Copied from the Exome Variant Server FRMD7_000069 990/10563 759/6728 231/3835
?/? c.162+30T>G r.(=) p.(=) g.131234610A>C Copied from the Exome Variant Server FRMD7_000068 1/10563 1/6728 0/3835
?/? c.163-52del r.(=) p.(=) g.131233590del Copied from the Exome Variant Server FRMD7_000067 2440/10198 1645/6482 795/3716
?/? c.163-52dup r.(=) p.(=) g.131233590dup Copied from the Exome Variant Server FRMD7_000066 230/10198 143/6482 87/3716
?/? c.163-52_163-51del r.(=) p.(=) g.131233589_131233590del Copied from the Exome Variant Server FRMD7_000065 123/10198 82/6482 41/3716
?/? c.163-42C>T r.(=) p.(=) g.131233580G>A Copied from the Exome Variant Server FRMD7_000063 1/10563 1/6728 0/3835
?/? c.205+21A>G r.(=) p.(=) g.131233475T>C Copied from the Exome Variant Server FRMD7_000061 23/10563 1/6728 22/3835
?/? c.205+23G>A r.(=) p.(=) g.131233473C>T Copied from the Exome Variant Server FRMD7_000059 2/10563 2/6728 0/3835
?/? c.206-41T>A r.(=) p.(=) g.131231413A>T Copied from the Exome Variant Server FRMD7_000057 1/10563 1/6728 0/3835
?/? c.210T>C r.(=) p.(=) g.131231368A>G Copied from the Exome Variant Server FRMD7_000055 3/10563 3/6728 0/3835
?/? c.232A>G r.(?) p.(Met78Val) g.131231346T>C Copied from the Exome Variant Server FRMD7_000053 3/10563 0/6728 3/3835
?/? c.284+6G>A r.(=) p.(=) g.131231288C>T Copied from the Exome Variant Server FRMD7_000051 3/10563 3/6728 0/3835
?/? c.284+27C>A r.(=) p.(=) g.131231267G>T Copied from the Exome Variant Server FRMD7_000050 2/10563 0/6728 2/3835
?/? c.284+37C>T r.(=) p.(=) g.131231257G>A Copied from the Exome Variant Server FRMD7_000064 2573/10563 1313/6728 1260/3835
?/? c.330G>C r.(?) p.(Arg110Ser) g.131228122C>G Copied from the Exome Variant Server FRMD7_000062 1/10563 0/6728 1/3835
?/? c.370C>T r.(?) p.(His124Tyr) g.131228082G>A Copied from the Exome Variant Server FRMD7_000060 1/10563 1/6728 0/3835
?/? c.382+18G>A r.(=) p.(=) g.131228052C>T Copied from the Exome Variant Server FRMD7_000058 1/10563 0/6728 1/3835
?/? c.383-48T>A r.(=) p.(=) g.131220110A>T Copied from the Exome Variant Server FRMD7_000056 64/10563 61/6728 3/3835
?/? c.383-14T>C r.(=) p.(=) g.131220076A>G Copied from the Exome Variant Server FRMD7_000054 5/10563 5/6728 0/3835
?/? c.383-11C>T r.(=) p.(=) g.131220073G>A Copied from the Exome Variant Server FRMD7_000052 319/10563 292/6728 27/3835
?/? c.450C>A r.(?) p.(Asn150Lys) g.131219995G>T Copied from the Exome Variant Server FRMD7_000049 3/10563 3/6728 0/3835
?/? c.497+3A>G r.spl? p.? g.131219945T>C Copied from the Exome Variant Server FRMD7_000048 1/10563 0/6728 1/3835
?/? c.571C>T r.(?) p.(Pro191Ser) g.131219683G>A Copied from the Exome Variant Server FRMD7_000047 2/10563 0/6728 2/3835
?/? c.579C>T r.(=) p.(=) g.131219675G>A Copied from the Exome Variant Server FRMD7_000046 4/10563 4/6728 0/3835
?/? c.645+52T>G r.(=) p.(=) g.131219557A>C Copied from the Exome Variant Server FRMD7_000045 1/4525 0/3107 1/1418
?/? c.742-46G>A r.(=) p.(=) g.131216600C>T Copied from the Exome Variant Server FRMD7_000044 17/10563 0/6728 17/3835
?/? c.742-29T>C r.(=) p.(=) g.131216583A>G Copied from the Exome Variant Server FRMD7_000043 1/10563 1/6728 0/3835
?/? c.796G>A r.(?) p.(Ala266Thr) g.131216500C>T Copied from the Exome Variant Server FRMD7_000042 1/10563 1/6728 0/3835
?/? c.842C>T r.(?) p.(Ser281Leu) g.131216454G>A Copied from the Exome Variant Server FRMD7_000041 767/10563 277/6728 490/3835
?/? c.843G>A r.(=) p.(=) g.131216453C>T Copied from the Exome Variant Server FRMD7_000040 3/10563 1/6728 2/3835
?/? c.892A>G r.(?) p.(Ser298Gly) g.131216404T>C Copied from the Exome Variant Server FRMD7_000039 1/10563 1/6728 0/3835
?/? c.898C>T r.(?) p.(Arg300Cys) g.131216398G>A Copied from the Exome Variant Server FRMD7_000038 13/10563 0/6728 13/3835
?/? c.905+9A>G r.(=) p.(=) g.131216382T>C Copied from the Exome Variant Server FRMD7_000037 1/10563 0/6728 1/3835
?/? c.905+15C>T r.(=) p.(=) g.131216376G>A Copied from the Exome Variant Server FRMD7_000036 2/10563 0/6728 2/3835
?/? c.905+32C>G r.(=) p.(=) g.131216359G>C Copied from the Exome Variant Server FRMD7_000035 1/10563 1/6728 0/3835
?/? c.954G>T r.(=) p.(=) g.131214246C>A Copied from the Exome Variant Server FRMD7_000034 27/10563 0/6728 27/3835
?/? c.974+46T>G r.(=) p.(=) g.131214180A>C Copied from the Exome Variant Server FRMD7_000033 5/10563 0/6728 5/3835
?/? c.975-53C>T r.(=) p.(=) g.131214162G>A Copied from the Exome Variant Server FRMD7_000032 1/3600 1/2391 0/1209
?/? c.983A>G r.(?) p.(Tyr328Cys) g.131214101T>C Copied from the Exome Variant Server FRMD7_000031 1/10563 1/6728 0/3835
?/? c.987A>G r.(=) p.(=) g.131214097T>C Copied from the Exome Variant Server FRMD7_000030 1/10563 0/6728 1/3835
?/? c.1051-35T>C r.(=) p.(=) g.131213029A>G Copied from the Exome Variant Server FRMD7_000029 3/10532 0/6713 3/3819
?/? c.1101T>C r.(=) p.(=) g.131212944A>G Copied from the Exome Variant Server FRMD7_000028 1038/10563 659/6728 379/3835
?/? c.1110C>T r.(=) p.(=) g.131212935G>A Copied from the Exome Variant Server FRMD7_000027 1/10563 1/6728 0/3835
?/? c.1216C>T r.(?) p.(His406Tyr) g.131212829G>A Copied from the Exome Variant Server FRMD7_000026 2/10563 0/6728 2/3835
?/? c.1374C>T r.(=) p.(=) g.131212671G>A Copied from the Exome Variant Server FRMD7_000025 2/10563 0/6728 2/3835
?/? c.1403G>A r.(?) p.(Arg468His) g.131212642C>T Copied from the Exome Variant Server FRMD7_000024 674/10563 385/6728 289/3835
?/? c.1474C>T r.(?) p.(Pro492Ser) g.131212571G>A Copied from the Exome Variant Server FRMD7_000023 2/10563 2/6728 0/3835
?/? c.1479C>T r.(=) p.(=) g.131212566G>A Copied from the Exome Variant Server FRMD7_000022 1/10563 0/6728 1/3835
?/? c.1494T>C r.(=) p.(=) g.131212551A>G Copied from the Exome Variant Server FRMD7_000021 1/10563 1/6728 0/3835
?/? c.1505C>T r.(?) p.(Pro502Leu) g.131212540G>A Copied from the Exome Variant Server FRMD7_000020 1/10563 1/6728 0/3835
?/? c.1531A>G r.(?) p.(Ile511Val) g.131212514T>C Copied from the Exome Variant Server FRMD7_000019 3/10563 2/6728 1/3835
?/? c.1533T>C r.(=) p.(=) g.131212512A>G Copied from the Exome Variant Server FRMD7_000018 3761/10563 2072/6728 1689/3835
?/? c.1544A>C r.(?) p.(Glu515Ala) g.131212501T>G Copied from the Exome Variant Server FRMD7_000017 1/10563 1/6728 0/3835
?/? c.1558C>G r.(?) p.(His520Asp) g.131212487G>C Copied from the Exome Variant Server FRMD7_000016 75/10563 0/6728 75/3835
?/? c.1588C>T r.(?) p.(Pro530Ser) g.131212457G>A Copied from the Exome Variant Server FRMD7_000015 1/10563 1/6728 0/3835
?/? c.1674C>T r.(=) p.(=) g.131212371G>A Copied from the Exome Variant Server FRMD7_000014 2/10563 0/6728 2/3835
?/? c.1675G>A r.(?) p.(Gly559Ser) g.131212370C>T Copied from the Exome Variant Server FRMD7_000013 1/10563 1/6728 0/3835
?/? c.1741A>G r.(?) p.(Asn581Asp) g.131212304T>C Copied from the Exome Variant Server FRMD7_000012 3/10563 0/6728 3/3835
?/? c.1865T>A r.(?) p.(Leu622Gln) g.131212180A>T Copied from the Exome Variant Server FRMD7_000011 1/10563 1/6728 0/3835
?/? c.1876_1877del r.(?) p.(Met626Valfs*22) g.131212168_131212169del Copied from the Exome Variant Server FRMD7_000010 1/10205 1/6484 0/3721
?/? c.1906C>T r.(=) p.(=) g.131212139G>A Copied from the Exome Variant Server FRMD7_000009 1/10563 1/6728 0/3835
?/? c.1966G>C r.(?) p.(Glu656Gln) g.131212079C>G Copied from the Exome Variant Server FRMD7_000008 1/10563 1/6728 0/3835
?/? c.2060A>G r.(?) p.(Asp687Gly) g.131211985T>C Copied from the Exome Variant Server FRMD7_000007 1/10563 1/6728 0/3835
?/? c.2098G>A r.(?) p.(Ala700Thr) g.131211947C>T Copied from the Exome Variant Server FRMD7_000006 1/10563 0/6728 1/3835
?/? c.2138del r.(?) p.(Leu713*) g.131211907del Copied from the Exome Variant Server FRMD7_000005 2/10205 2/6484 0/3721
?/? c.2145A>T r.(?) p.(*715Tyrext*24) g.131211900T>A Copied from the Exome Variant Server FRMD7_000004 1/10563 0/6728 1/3835
?/? c.*3G>T r.(=) p.(=) g.131211897C>A Copied from the Exome Variant Server FRMD7_000003 3/10563 0/6728 3/3835
?/? c.*13A>G r.(=) p.(=) g.131211887T>C Copied from the Exome Variant Server FRMD7_000002 1/10563 0/6728 1/3835
?/? c.*43C>T r.(=) p.(=) g.131211857G>A Copied from the Exome Variant Server FRMD7_000001 1/10562 0/6727 1/3835
Legend