All transcript variants in gene POMT2

Information The variants shown are described using the NM_013382.5 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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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.-64G>A r.(=) p.(=) g.77787088C>T - POMT2_000073 rs2270421 0.211 104 494 1235 - - Admin
./. - c.-61G>A r.(=) p.(=) g.77787085C>T - POMT2_000072 rs143832366 0.006 3 500 1295 - - Admin
./. - c.-56G>A r.(=) p.(=) g.77787080C>T - POMT2_000071 rs567281401 0.012 6 504 1349 - - Admin
./. - c.-47_-44del r.(=) p.(=) g.77787068_77787071del - POMT2_000070 rs368351148 0.001938 1 516 4437 - - Admin
./. - c.84C>T r.(=) p.(=) g.77786941G>A - POMT2_000069 rs771031903 0.001938 1 516 4437 - - Admin
./. - c.161C>A r.(?) p.(Ala54Glu) g.77786864G>T - POMT2_000068 rs8177536 0.017 9 516 8060 - - Admin
./. - c.162G>T r.(=) p.(=) g.77786863C>A - POMT2_000067 rs2270420 0.048 25 516 8176 - - Admin
./. - c.248+108C>A r.(=) p.(=) g.77786669G>T - POMT2_000066 rs11629257 0.07 36 516 4090 - - Admin
./. - c.249-109A>G r.(=) p.(=) g.77778485T>C - POMT2_000065 rs61442105 0.015 7 456 741 - - Admin
./. - c.249-33A>G r.(=) p.(=) g.77778409T>C - POMT2_000064 rs1228879474 0.001938 1 516 2650 1 0 Admin
./. - c.333+85G>A r.(=) p.(=) g.77778207C>T - POMT2_000063 rs181302842 0.001938 1 516 5461 - - Admin
./. - c.333+188A>C r.(=) p.(=) g.77778104T>G - POMT2_000062 rs117335938 0.007813 4 512 1250 - - Admin
./. - c.334-2311G>A r.(=) p.(=) g.77775095C>T - POMT2_000061 rs113433642 0.014 7 516 4847 - - Admin
./. - c.334-45T>C r.(=) p.(=) g.77772829A>G - POMT2_000060 rs66502123 0.095 49 514 2465 - - Admin
./. - c.438+81C>T r.(=) p.(=) g.77772599G>A - POMT2_000059 rs3815627 0.06 31 516 1725 - - Admin
./. - c.439-45C>T r.(=) p.(=) g.77771188G>A - POMT2_000058 rs146792467 0.014 7 516 5923 - - Admin
./. - c.548-77C>G r.(=) p.(=) g.77769363G>C - POMT2_000057 rs149929369 0.016 8 516 5589 - - Admin
./. - c.816+51T>C r.(=) p.(=) g.77767382A>G - POMT2_000056 rs2287392 0.238 123 516 4053 - - Admin
./. - c.817-123T>C r.(=) p.(=) g.77766027A>G - POMT2_000055 rs2287390 0.232 119 512 1990 - - Admin
./. - c.817-121C>T r.(=) p.(=) g.77766025G>A - POMT2_000054 rs2287389 0.232 119 514 2033 - - Admin
./. - c.924-10C>T r.(=) p.(=) g.77765124G>A - POMT2_000053 rs142122657 0.003876 2 516 5316 - - Admin
./. - c.1006+148C>T r.(=) p.(=) g.77764884G>A - POMT2_000052 rs7143099 0.023 12 514 1902 - - Admin
./. - c.1007-56C>T r.(=) p.(=) g.77762672G>A - POMT2_000051 rs142209688 0.005837 3 514 4062 - - Admin
./. - c.1007-32G>A r.(=) p.(=) g.77762648C>T - POMT2_000050 rs79509556 0.029 15 516 5327 - - Admin
./. - c.1045C>T r.(?) p.(Arg349Trp) g.77762578G>A - POMT2_000049 rs141339355 0.001938 1 516 8916 - - Admin
./. - c.1116+35A>G r.(=) p.(=) g.77762472T>C - POMT2_000048 rs2302831 0.033 17 516 9908 - - Admin
./. - c.1116+120T>C r.(=) p.(=) g.77762387A>G - POMT2_000047 rs148819460 0.003876 2 516 8793 - - Admin
./. - c.1116+165C>T r.(=) p.(=) g.77762342G>A - POMT2_000046 rs67600987 0.099 51 516 5386 - - Admin
./. - c.1117-20C>T r.(=) p.(=) g.77757743G>A - POMT2_000045 rs7153929 0.113 31 274 2142 - - Admin
./. - c.1117-16C>T r.(=) p.(=) g.77757739G>A - POMT2_000044 rs773841683 0.003086 1 324 2552 - - Admin
./. - c.1183+14A>G r.(=) p.(=) g.77757643T>C - POMT2_000043 rs80099135 0.001938 1 516 8555 - - Admin
./. - c.1183+67A>G r.(=) p.(=) g.77757590T>C - POMT2_000042 rs145363560 0.003876 2 516 8002 - - Admin
./. - c.1184-152C>T r.(=) p.(=) g.77755326G>A - POMT2_000041 rs76350342 0.016 8 496 1162 - - Admin
./. - c.1184-47A>C r.(=) p.(=) g.77755221T>G - POMT2_000040 rs2287387 0.488 252 516 5591 - - Admin
./. - c.1253+98_1253+102del r.(=) p.(=) g.77755003_77755007del - POMT2_000039 rs1237707628 0.007874 4 508 2726 4 0 Admin
./. - c.1262G>A r.(?) p.(Arg421Gln) g.77753157C>T - POMT2_000038 rs151078549 0.001938 1 516 6348 - - Admin
./. - c.1383G>A r.(=) p.(=) g.77751925C>T - POMT2_000037 rs2270419 0.808 417 516 8697 - - Admin
./. - c.1484+64G>A r.(=) p.(=) g.77751760C>T - POMT2_000036 rs557549830 0.003906 2 512 1303 - - Admin
./. - c.1576+55C>T r.(=) p.(=) g.77751238G>A - POMT2_000035 rs78002771 0.023 12 516 8004 - - Admin
./. - c.1577-118A>G r.(=) p.(=) g.77750334T>C - POMT2_000034 rs140542330 0.001938 1 516 2333 - - Admin
./. - c.1593G>A r.(=) p.(=) g.77750200C>T - POMT2_000033 rs147934334 0.001938 1 516 7724 - - Admin
./. - c.1653+38G>A r.(=) p.(=) g.77750102C>T - POMT2_000032 rs142649005 0.005814 3 516 4582 - - Admin
./. - c.1653+83A>C r.(=) p.(=) g.77750057T>G - POMT2_000031 rs2216089 0.51 262 514 2751 - - Admin
./. - c.1653+129C>T r.(=) p.(=) g.77750011G>A - POMT2_000030 rs17105658 0.022 11 500 1279 - - Admin
./. - c.1654-102C>T r.(=) p.(=) g.77746908G>A - POMT2_000029 rs559747080 0.001938 1 516 5554 - - Admin
./. - c.1654-97C>T r.(=) p.(=) g.77746903G>A - POMT2_000028 rs150492717 0.014 7 516 5859 - - Admin
./. - c.1654-41G>C r.(=) p.(=) g.77746847C>G - POMT2_000027 rs71413457 0.025 13 516 8903 - - Admin
./. - c.1654-6A>G r.(=) p.(=) g.77746812T>C - POMT2_000026 rs4540995 0.087 45 516 9520 - - Admin
./. - c.1701C>G r.(=) p.(=) g.77746759G>C - POMT2_000025 rs151051452 0.005814 3 516 8079 - - Admin
./. - c.1725+33A>T r.(=) p.(=) g.77746702T>A - POMT2_000024 rs188582213 0.001938 1 516 4367 - - Admin
./. - c.1725+51G>C r.(=) p.(=) g.77746684C>G - POMT2_000023 rs78688981 0.001938 1 516 3622 - - Admin
./. - c.1725+67A>G r.(=) p.(=) g.77746668T>C - POMT2_000022 rs1472013034 0.007874 4 508 2726 4 0 Admin
./. - c.1725+76T>G r.(=) p.(=) g.77746659A>C - POMT2_000021 rs1022737335 0.014 7 514 2299 7 0 Admin
./. - c.1786-43A>C r.(=) p.(=) g.77746314T>G - POMT2_000020 rs74062792 0.001938 1 516 9780 - - Admin
./. - c.1786-39C>T r.(=) p.(=) g.77746310G>A - POMT2_000019 rs438931 0.114 59 516 10753 - - Admin
./. - c.1881G>A r.(=) p.(=) g.77746176C>T - POMT2_000018 rs146588608 0.001938 1 516 9222 - - Admin
./. - c.1891+49C>T r.(=) p.(=) g.77746117G>A - POMT2_000017 rs61990292 0.027 14 516 8992 - - Admin
./. - c.1891+54A>G r.(=) p.(=) g.77746112T>C - POMT2_000016 rs11625197 0.246 127 516 9781 - - Admin
./. - c.1891+237G>T r.(=) p.(=) g.77745929C>A - POMT2_000015 rs1045746019 0.001938 1 516 8883 1 0 Admin
./. - c.1891+314C>T r.(=) p.(=) g.77745852G>A - POMT2_000014 rs533653726 0.001938 1 516 6142 - - Admin
./. - c.1892-168C>T r.(=) p.(=) g.77745380G>A - POMT2_000013 rs760292350 0.001938 1 516 5569 - - Admin
./. - c.1892-164C>T r.(=) p.(=) g.77745376G>A - POMT2_000012 rs61990291 0.238 123 516 5991 - - Admin
./. - c.1892-112G>A r.(=) p.(=) g.77745324C>T - POMT2_000011 rs150510281 0.003876 2 516 8263 - - Admin
./. - c.1903G>A r.(?) p.(Val635Ile) g.77745201C>T - POMT2_000010 rs142299878 0.003876 2 516 9690 - - Admin
./. - c.1911T>G r.(=) p.(=) g.77745193A>C - POMT2_000009 rs3209079 0.81 418 516 11411 - - Admin
./. - c.1920C>T r.(=) p.(=) g.77745184G>A - POMT2_000008 rs150755807 0.001938 1 516 9477 - - Admin
./. - c.2032+73G>A r.(=) p.(=) g.77744999C>T - POMT2_000007 rs540878552 0.001938 1 516 4897 - - Admin
./. - c.2083T>A r.(?) p.(Trp695Arg) g.77744801A>T - POMT2_000006 rs139308429 0.001938 1 516 7492 - - Admin
./. - c.2127G>A r.(=) p.(=) g.77744757C>T - POMT2_000005 rs138142899 0.001938 1 516 5845 - - Admin
./. - c.2147+68C>T r.(=) p.(=) g.77744669G>A - POMT2_000004 rs79873606 0.003876 2 516 2962 - - Admin
./. - c.2148-18A>G r.(=) p.(=) g.77743842T>C - POMT2_000003 rs138488805 0.003876 2 516 7724 - - Admin
./. - c.2175C>T r.(=) p.(=) g.77743797G>A - POMT2_000002 rs116434191 0.005814 3 516 8401 - - Admin
./. - c.*75C>T r.(=) p.(=) g.77743644G>A - POMT2_000001 rs1055592 0.188 93 496 2162 - - Admin
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