All transcript variants in gene MAK16

Information The variants shown are described using the NM_032509.3 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-32G>T r.(=) p.(=) g.33342693G>T Copied from the Exome Variant Server MAK16_000001 1/13006 1/8600 0/4406
?/? c.-18C>G r.(=) p.(=) g.33342707C>G Copied from the Exome Variant Server MAK16_000002 33/13006 0/8600 33/4406
?/? c.-11C>A r.(=) p.(=) g.33342714C>A Copied from the Exome Variant Server MAK16_000003 1/13006 1/8600 0/4406
?/? c.9G>C r.(=) p.(=) g.33342733G>C Copied from the Exome Variant Server MAK16_000004 5/13006 4/8600 1/4406
?/? c.15T>C r.(=) p.(=) g.33342739T>C Copied from the Exome Variant Server MAK16_000005 5/13006 5/8600 0/4406
?/? c.15+37G>T r.(=) p.(=) g.33342776G>T Copied from the Exome Variant Server MAK16_000006 2/13006 0/8600 2/4406
?/? c.15+39G>C r.(=) p.(=) g.33342778G>C Copied from the Exome Variant Server MAK16_000007 2/13006 2/8600 0/4406
?/? c.15+78G>A r.(=) p.(=) g.33342817G>A Copied from the Exome Variant Server MAK16_000008 11/4566 0/3182 11/1384
?/? c.15+91C>A r.(=) p.(=) g.33342830C>A Copied from the Exome Variant Server MAK16_000009 1/4566 0/3182 1/1384
?/? c.16-30T>C r.(=) p.(=) g.33345866T>C Copied from the Exome Variant Server MAK16_000010 1/13006 1/8600 0/4406
?/? c.16-19C>G r.(=) p.(=) g.33345877C>G Copied from the Exome Variant Server MAK16_000011 2/13006 2/8600 0/4406
?/? c.138G>A r.(=) p.(=) g.33346110G>A Copied from the Exome Variant Server MAK16_000012 2/13006 2/8600 0/4406
?/? c.176-27A>G r.(=) p.(=) g.33346225A>G Copied from the Exome Variant Server MAK16_000013 14/13006 12/8600 2/4406
?/? c.186C>T r.(=) p.(=) g.33346262C>T Copied from the Exome Variant Server MAK16_000014 1/13006 0/8600 1/4406
?/? c.223C>G r.(?) p.(Arg75Gly) g.33346299C>G Copied from the Exome Variant Server MAK16_000015 1/13006 1/8600 0/4406
?/? c.224G>A r.(?) p.(Arg75Gln) g.33346300G>A Copied from the Exome Variant Server MAK16_000016 4/13006 2/8600 2/4406
?/? c.227G>A r.(?) p.(Arg76His) g.33346303G>A Copied from the Exome Variant Server MAK16_000017 1/13006 1/8600 0/4406
?/? c.238C>T r.(?) p.(Arg80Trp) g.33346314C>T Copied from the Exome Variant Server MAK16_000018 1/13006 1/8600 0/4406
?/? c.239G>A r.(?) p.(Arg80Gln) g.33346315G>A Copied from the Exome Variant Server MAK16_000019 2/13006 0/8600 2/4406
?/? c.240+12A>G r.(=) p.(=) g.33346328A>G Copied from the Exome Variant Server MAK16_000020 1/13006 0/8600 1/4406
?/? c.240+26del r.(=) p.(=) g.33346342del Copied from the Exome Variant Server MAK16_000021 3/12518 0/8254 3/4264
?/? c.240+44T>C r.(=) p.(=) g.33346360T>C Copied from the Exome Variant Server MAK16_000022 1/13006 1/8600 0/4406
?/? c.240+57C>T r.(=) p.(=) g.33346373C>T Copied from the Exome Variant Server MAK16_000023 32/4566 0/3182 32/1384
?/? c.240+58T>C r.(=) p.(=) g.33346374T>C Copied from the Exome Variant Server MAK16_000024 4/4566 0/3182 4/1384
?/? c.241-40del r.(=) p.(=) g.33346466del Copied from the Exome Variant Server MAK16_000025 5/12518 0/8254 5/4264
?/? c.241-34C>T r.(=) p.(=) g.33346472C>T Copied from the Exome Variant Server MAK16_000026 1/13006 1/8600 0/4406
?/? c.241-30C>T r.(=) p.(=) g.33346476C>T Copied from the Exome Variant Server MAK16_000027 1/13006 1/8600 0/4406
?/? c.241-8del r.(=) p.(=) g.33346498del Copied from the Exome Variant Server MAK16_000028 14/12518 12/8254 2/4264
?/? c.244C>T r.(?) p.(Arg82Trp) g.33346509C>T Copied from the Exome Variant Server MAK16_000029 1/13006 1/8600 0/4406
?/? c.261T>C r.(=) p.(=) g.33346526T>C Copied from the Exome Variant Server MAK16_000030 1/13006 1/8600 0/4406
?/? c.365G>A r.(?) p.(Arg122Gln) g.33346630G>A Copied from the Exome Variant Server MAK16_000031 2/13006 2/8600 0/4406
?/? c.392+45G>A r.(=) p.(=) g.33346702G>A Copied from the Exome Variant Server MAK16_000032 16/12988 0/8598 16/4390
?/? c.393-20_393-19del r.(=) p.(=) g.33347783_33347784del Copied from the Exome Variant Server MAK16_000033 75/12518 40/8254 35/4264
?/? c.393-16A>G r.(=) p.(=) g.33347787A>G Copied from the Exome Variant Server MAK16_000034 1/13006 0/8600 1/4406
?/? c.424G>A r.(?) p.(Glu142Lys) g.33347834G>A Copied from the Exome Variant Server MAK16_000035 1/13006 1/8600 0/4406
?/? c.427C>T r.(?) p.(Arg143Cys) g.33347837C>T Copied from the Exome Variant Server MAK16_000037 1/13006 1/8600 0/4406
?/? c.428G>A r.(?) p.(Arg143His) g.33347838G>A Copied from the Exome Variant Server MAK16_000039 1/13006 1/8600 0/4406
?/? c.447+10T>A r.(=) p.(=) g.33347867T>A Copied from the Exome Variant Server MAK16_000041 1/13006 0/8600 1/4406
?/? c.447+50T>G r.(=) p.(=) g.33347907T>G Copied from the Exome Variant Server MAK16_000036 8624/13006 5532/8600 3092/4406
?/? c.448-38C>T r.(=) p.(=) g.33353022C>T Copied from the Exome Variant Server MAK16_000038 1/13006 0/8600 1/4406
?/? c.448-11C>A r.(=) p.(=) g.33353049C>A Copied from the Exome Variant Server MAK16_000040 27/13006 0/8600 27/4406
?/? c.448-3T>C r.spl? p.? g.33353057T>C Copied from the Exome Variant Server MAK16_000042 7/13006 0/8600 7/4406
?/? c.464C>T r.(?) p.(Ala155Val) g.33353076C>T Copied from the Exome Variant Server MAK16_000043 1/13006 0/8600 1/4406
?/? c.480T>C r.(=) p.(=) g.33353092T>C Copied from the Exome Variant Server MAK16_000044 3/13006 0/8600 3/4406
?/? c.521C>T r.(?) p.(Thr174Met) g.33353133C>T Copied from the Exome Variant Server MAK16_000045 1/13006 1/8600 0/4406
?/? c.522+63T>C r.(=) p.(=) g.33353197T>C Copied from the Exome Variant Server MAK16_000046 2/4566 2/3182 0/1384
?/? c.529G>A r.(?) p.(Asp177Asn) g.33354149G>A Copied from the Exome Variant Server MAK16_000047 1/13006 1/8600 0/4406
?/? c.546C>T r.(=) p.(=) g.33354166C>T Copied from the Exome Variant Server MAK16_000048 1/13006 0/8600 1/4406
?/? c.590G>A r.(?) p.(Ser197Asn) g.33354210G>A Copied from the Exome Variant Server MAK16_000049 3/13006 0/8600 3/4406
?/? c.592G>T r.(?) p.(Asp198Tyr) g.33354212G>T Copied from the Exome Variant Server MAK16_000050 1/13006 1/8600 0/4406
?/? c.606T>G r.(=) p.(=) g.33354226T>G Copied from the Exome Variant Server MAK16_000051 1/13006 1/8600 0/4406
?/? c.616_618del r.(?) p.(Asp211del) g.33354236_33354238del Copied from the Exome Variant Server MAK16_000053 82/12516 72/8254 10/4262
?/? c.616_618dup r.(?) p.(Asp211dup) g.33354236_33354238dup Copied from the Exome Variant Server MAK16_000052 688/12516 256/8254 432/4262
?/? c.625G>A r.(?) p.(Asp209Asn) g.33354245G>A Copied from the Exome Variant Server MAK16_000054 1/13004 1/8600 0/4404
?/? c.627T>C r.(=) p.(=) g.33354247T>C Copied from the Exome Variant Server MAK16_000055 1/13004 1/8600 0/4404
?/? c.631G>C r.(?) p.(Asp211His) g.33354251G>C Copied from the Exome Variant Server MAK16_000056 1/13004 0/8600 1/4404
?/? c.633T>G r.(?) p.(Asp211Glu) g.33354253T>G Copied from the Exome Variant Server MAK16_000057 1/13006 1/8600 0/4406
?/? c.639+39C>T r.(=) p.(=) g.33354298C>T Copied from the Exome Variant Server MAK16_000058 1/12996 1/8596 0/4400
?/? c.670G>A r.(?) p.(Gly224Ser) g.33354780G>A Copied from the Exome Variant Server MAK16_000059 5/13006 4/8600 1/4406
?/? c.690C>T r.(=) p.(=) g.33354800C>T Copied from the Exome Variant Server MAK16_000060 1/13006 1/8600 0/4406
?/? c.705+20A>G r.(=) p.(=) g.33354835A>G Copied from the Exome Variant Server MAK16_000061 1/13006 0/8600 1/4406
?/? c.706-33C>T r.(=) p.(=) g.33355917C>T Copied from the Exome Variant Server MAK16_000062 1/13006 0/8600 1/4406
?/? c.706-20C>T r.(=) p.(=) g.33355930C>T Copied from the Exome Variant Server MAK16_000063 2/13006 2/8600 0/4406
?/? c.706-8C>T r.(=) p.(=) g.33355942C>T Copied from the Exome Variant Server MAK16_000064 1/13006 1/8600 0/4406
?/? c.724G>A r.(?) p.(Ala242Thr) g.33355968G>A Copied from the Exome Variant Server MAK16_000065 1/13006 1/8600 0/4406
?/? c.762T>A r.(?) p.(Ser254Arg) g.33356006T>A Copied from the Exome Variant Server MAK16_000066 1/13006 0/8600 1/4406
?/? c.792G>T r.(=) p.(=) g.33356036G>T Copied from the Exome Variant Server TTI2_000001 1/13006 1/8600 0/4406
?/? c.830A>G r.(?) p.(Gln277Arg) g.33356074A>G Copied from the Exome Variant Server TTI2_000002 8367/13006 5362/8600 3005/4406
?/? c.847G>A r.(?) p.(Val283Met) g.33356091G>A Copied from the Exome Variant Server TTI2_000003 1/13006 1/8600 0/4406
?/? c.900G>A r.(=) p.(=) g.33356144G>A Copied from the Exome Variant Server TTI2_000004 1/13006 1/8600 0/4406
?/? c.*25G>C r.(=) p.(=) g.33356172G>C Copied from the Exome Variant Server TTI2_000005 1/13006 1/8600 0/4406
?/? c.*49T>G r.(=) p.(=) g.33356196T>G Copied from the Exome Variant Server TTI2_000006 7/12964 0/8570 7/4394
?/? c.*564C>T r.(?) p.(Ala503Thr) g.33356711C>T Copied from the Exome Variant Server TTI2_000007 2/13006 1/8600 1/4406
?/? c.*570C>T r.(?) p.(Glu501Lys) g.33356717C>T Copied from the Exome Variant Server TTI2_000008 1/13006 1/8600 0/4406
?/? c.*585C>T r.(?) p.(Val496Met) g.33356732C>T Copied from the Exome Variant Server TTI2_000009 1/13006 0/8600 1/4406
?/? c.*587T>C r.(?) p.(Lys495Arg) g.33356734T>C Copied from the Exome Variant Server TTI2_000010 6/13006 0/8600 6/4406
?/? c.*596T>C r.(?) p.(Tyr492Cys) g.33356743T>C Copied from the Exome Variant Server TTI2_000011 1/13006 1/8600 0/4406
?/? c.*620C>T r.(?) p.(Cys484Tyr) g.33356767C>T Copied from the Exome Variant Server TTI2_000012 2/13006 0/8600 2/4406
?/? c.*638G>T r.(?) p.(Ala478Asp) g.33356785G>T Copied from the Exome Variant Server TTI2_000013 1/13006 1/8600 0/4406
?/? c.*670G>A r.(=) p.(=) g.33356817G>A Copied from the Exome Variant Server TTI2_000014 124/13006 2/8600 122/4406
?/? c.*678A>T r.(=) p.(=) g.33356825A>T Copied from the Exome Variant Server TTI2_000017 4/13006 0/8600 4/4406
?/? c.*678del r.(=) p.(=) g.33356825del Copied from the Exome Variant Server TTI2_000016 250/12518 10/8254 240/4264
?/? c.*679_*680insA r.(=) p.(=) g.33356826_33356827insA Copied from the Exome Variant Server TTI2_000019 984/12516 451/8254 533/4262
?/? c.*682T>A r.(=) p.(=) g.33356829T>A Copied from the Exome Variant Server TTI2_000022 199/13006 178/8600 21/4406
?/? c.*1671A>G r.(=) p.(=) g.33357818A>G Copied from the Exome Variant Server TTI2_000024 1014/13006 267/8600 747/4406
?/? c.*1726C>G r.(=) p.(=) g.33357873C>G Copied from the Exome Variant Server TTI2_000026 1/13006 0/8600 1/4406
?/? c.*1727A>G r.(?) p.(Leu465Pro) g.33357874A>G Copied from the Exome Variant Server TTI2_000028 1/13006 1/8600 0/4406
?/? c.*1765G>A r.(=) p.(=) g.33357912G>A Copied from the Exome Variant Server TTI2_000015 2/13006 1/8600 1/4406
?/? c.*1770_*1771insA r.(?) p.(Lys451*) g.33357917_33357918insA Copied from the Exome Variant Server TTI2_000018 1/12518 0/8254 1/4264
?/? c.*1787A>G r.(?) p.(Leu445Pro) g.33357934A>G Copied from the Exome Variant Server TTI2_000020 1/13006 0/8600 1/4406
?/? c.*1789G>A r.(=) p.(=) g.33357936G>A Copied from the Exome Variant Server TTI2_000021 1/13006 1/8600 0/4406
?/? c.*1887_*1888insCA r.(=) p.(=) g.33358034_33358035insCA Copied from the Exome Variant Server TTI2_000023 4/12518 4/8254 0/4264
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