All transcript variants in gene PHKA1

Information The variants shown are described using the NM_001122670.1 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. - c.78+82G>A r.(=) p.(=) g.71933569C>T - PHKA1_000016 rs373680799 0.003876 2 516 8257 - - Admin
./. - c.78+89C>T r.(=) p.(=) g.71933562G>A - PHKA1_000015 rs189982817 0.001938 1 516 7982 - - Admin
./. - c.78+97T>C r.(=) p.(=) g.71933554A>G - PHKA1_000014 rs868945602 0.003876 2 516 7796 - - Admin
./. - c.78+101_78+106del r.(=) p.(=) g.71933545_71933550del - PHKA1_000010 - - - - - - - Admin
./. - c.78+101_78+108del r.(=) p.(=) g.71933543_71933550del - PHKA1_000008 - - - - - - - Admin
./. - c.78+103del r.(=) p.(=) g.71933548del - PHKA1_000012 - - - - - - - Admin
./. - c.78+103T>G r.(=) p.(=) g.71933548A>C - PHKA1_000013 rs372935979 - - - - - - Admin
./. - c.78+103_78+105del r.(=) p.(=) g.71933546_71933548del - PHKA1_000011 - - - - - - - Admin
./. - c.78+107del r.(=) p.(=) g.71933544del - PHKA1_000009 - - - - - - - Admin
./. - c.78+124_78+125insGGTG r.(=) p.(=) g.71933526_71933527insCACC - PHKA1_000007 - - - - - - - Admin
./. - c.78+129_78+130del r.(=) p.(=) g.71933521_71933522del - PHKA1_000005 - 0.003906 2 512 2285 0 1 Admin
./. - c.78+129_78+130dup r.(=) p.(=) g.71933521_71933522dup - PHKA1_000006 - 0.003906 2 512 2285 0 1 Admin
./. - c.78+129_78+132del r.(=) p.(=) g.71933519_71933522del - PHKA1_000004 - 0.003906 2 512 2285 0 1 Admin
./. - c.78+129_78+134del r.(=) p.(=) g.71933517_71933522del - PHKA1_000002 - 0.003906 2 512 2285 0 1 Admin
./. - c.78+129_78+136del r.(=) p.(=) g.71933515_71933522del - PHKA1_000001 - 0.003906 2 512 2285 0 1 Admin
./. - c.78+129_78+138del r.(=) p.(=) g.71933513_71933522del - PHKA1_000050 - 0.003906 2 512 2285 0 1 Admin
./. - c.78+133T>A r.(=) p.(=) g.71933518A>T - PHKA1_000003 - 0.055 28 512 6158 0 1 Admin
./. - c.286-47G>A r.(=) p.(=) g.71915773C>T - PHKA1_000049 rs78955646 0.001938 1 516 7550 - - Admin
./. - c.429C>T r.(=) p.(=) g.71915583G>A - PHKA1_000048 rs138066694 0.02 10 506 1600 - - Admin
./. - c.538-112_538-111del r.(=) p.(=) g.71896111_71896112del - PHKA1_000041 rs376378016 0.019 10 516 3237 - - Admin
./. - c.538-112_538-111dup r.(=) p.(=) g.71896111_71896112dup - PHKA1_000040 rs376378016 0.019 10 516 3237 - - Admin
./. - c.538-25T>C r.(=) p.(=) g.71896025A>G - PHKA1_000039 rs149014464 0.019 10 516 3237 - - Admin
./. - c.717+103T>C r.(=) p.(=) g.71887122A>G - PHKA1_000038 rs537484497 0.002049 1 488 1139 - - Admin
./. - c.865-100A>G r.(=) p.(=) g.71877591T>C - PHKA1_000037 - 0.003906 2 512 2285 0 1 Admin
./. - c.919-79A>G r.(=) p.(=) g.71876171T>C - PHKA1_000036 rs2272781 0.157 79 502 2309 - - Admin
./. - c.1245+19G>C r.(=) p.(=) g.71872375C>G - PHKA1_000035 - 0.001938 1 516 5228 1 0 Admin
./. - c.1459+137A>G r.(=) p.(=) g.71864075T>C - PHKA1_000034 rs186116852 0.004202 2 476 1130 - - Admin
./. - c.1460-69_1460-68del r.(=) p.(=) g.71856304_71856305del - PHKA1_000033 rs782091086 0.001938 1 516 2856 - - Admin
./. - c.1460-62A>C r.(=) p.(=) g.71856298T>G - PHKA1_000032 - 0.001938 1 516 2856 1 0 Admin
./. - c.1460-23A>T r.(=) p.(=) g.71856259T>A - PHKA1_000031 rs201822194 0.003876 2 516 4965 - - Admin
./. - c.1570-73A>G r.(=) p.(=) g.71855222T>C - PHKA1_000030 rs4825955 0.051 23 452 728 - - Admin
./. - c.1715-127A>G r.(=) p.(=) g.71847026T>C - PHKA1_000029 rs35359441 0.057 25 438 805 - - Admin
./. - c.1715-93C>T r.(=) p.(=) g.71846992G>A - PHKA1_000028 rs188060086 0.002041 1 490 1285 - - Admin
./. - c.1715-51A>G r.(=) p.(=) g.71846950T>C - PHKA1_000027 rs372951020 0.001938 1 516 2546 - - Admin
./. - c.1715-35C>T r.(=) p.(=) g.71846934G>A - PHKA1_000026 rs369412369 0.001938 1 516 3282 - - Admin
./. - c.1760G>A r.(?) p.(Arg587Gln) g.71846854C>T - PHKA1_000025 rs782809860 0.003876 2 516 6279 - - Admin
./. - c.1794-67C>G r.(=) p.(=) g.71843192G>C - PHKA1_000024 rs151046207 0.011 5 448 890 - - Admin
./. - c.2160G>A r.(=) p.(=) g.71839133C>T - PHKA1_000023 rs368071005 0.001938 1 516 5117 - - Admin
./. - c.2229+24C>T r.(=) p.(=) g.71839040G>A - PHKA1_000022 rs184838667 0.001938 1 516 5376 - - Admin
./. - c.2462G>A r.(?) p.(Arg821His) g.71830942C>T - PHKA1_000021 rs139803629 0.003876 2 516 6732 - - Admin
./. - c.2526+74T>G r.(=) p.(=) g.71830804A>C - PHKA1_000020 - 0.002024 1 494 1288 1 0 Admin
./. - c.2606+101T>G r.(=) p.(=) g.71829373A>C - PHKA1_000019 rs1883070 0.058 30 516 3885 - - Admin
./. - c.2780T>C r.(?) p.(Met927Thr) g.71825156A>G - PHKA1_000018 rs201526819 0.001938 1 516 6462 - - Admin
./. - c.2816-124T>C r.(=) p.(=) g.71823194A>G - PHKA1_000017 rs5912109 0.068 35 516 2463 - - Admin
./. - c.3033+2317T>C r.(=) p.(=) g.71819691A>G - PHKA1_000047 rs7054230 0.112 58 516 5290 - - Admin
./. - c.3033+2437del r.(=) p.(=) g.71819571del - PHKA1_000046 rs376497544 - - - - - - Admin
./. - c.3034-68_3034-67insA r.(=) p.(=) g.71813191_71813192insT - PHKA1_000045 rs200569284 - - - - - - Admin
./. - c.3460-114C>G r.(=) p.(=) g.71801139G>C - PHKA1_000044 - 0.001938 1 516 3586 1 0 Admin
./. - c.3460-67del r.(=) p.(=) g.71801092del - PHKA1_000043 rs199800573 - - - - - - Admin
./. - c.3460-30del r.(=) p.(=) g.71801055del - PHKA1_000042 rs782491905 - - - - - - Admin
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