All transcript variants in gene MUSK

Information The variants shown are described using the NM_001166280.1 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. - c.207-1060C>G r.(=) p.(=) g.110686057C>G - MUSK_000026 rs10817073 0.6103 160 127 Admin
./. - c.207-776A>T - - g.110686341A>T - MUSK_000027 rs10980526 0.2368 125 18 Admin
./. - c.359-3525G>T - - g.110691878G>T - MUSK_000028 rs7040569 0.5618 164 109 Admin
./. - c.359-887G>T - - g.110694516G>T - MUSK_000029 rs10980529 0.0750 46 2 Admin
./. - c.628+3261C>G - - g.110700727C>G - MUSK_000001 rs4524871 0.1441 76 11 Admin
./. - c.628+7194A>G - - g.110704660A>G - MUSK_000002 rs12347321 0.9059 60 277 Admin
./. - c.628+7799C>T - - g.110705265C>T - MUSK_000003 rs7856889 0.5662 143 121 Admin
./. - c.628+8989A>G - - g.110706455A>G - MUSK_000004 rs7036873 0.4029 159 57 Admin
./. - c.628+11501C>T - - g.110708967C>T - MUSK_000005 rs10512409 0.5897 154 123 Admin
./. - c.628+13063A>C r.(=) p.(=) g.110710529A>C - MUSK_000006 rs10980535 0.3118 112 49 Admin
./. - c.628+14419C>G - - g.110711885C>G - MUSK_000007 rs10817082 0.2500 48 60 Admin
./. - c.628+14623C>T - - g.110712089C>T - MUSK_000008 rs10817083 0.3912 155 55 Admin
./. - c.629-6978C>G r.(=) p.(=) g.110721710C>G - MUSK_000009 rs10733579 0.2676 128 27 Admin
./. - c.659-2735C>T r.(=) p.(=) g.110731516C>T - MUSK_000010 rs10759465 0.6309 163 132 Admin
./. - c.659-764A>G - - g.110733487A>G - MUSK_000011 rs4579595 0.2162 122 12 Admin
./. - c.783+4716G>T - - g.110739091G>T - MUSK_000012 rs4574919 0.5015 180 80 Admin
./. - c.783+6114A>G - - g.110740489A>G - MUSK_000013 rs10817088 0.8044 112 217 Admin
./. - c.784-6146A>G - - g.110741495A>G - MUSK_000014 rs4532674 0.4044 148 63 Admin
./. - c.784-5012C>T - - g.110742629C>T - MUSK_000015 rs10980551 0.5382 179 93 Admin
./. - c.784-2924C>T - - g.110744717C>T - MUSK_000016 rs4144418 0.5441 169 100 Admin
./. - c.943+5823C>T r.(=) p.(=) g.110753623C>T - MUSK_000017 rs2821151 0.1353 84 4 Admin
./. - c.944-5422C>T - - g.110756780C>T - MUSK_000018 rs41427549 0.9338 37 298 Admin
./. - c.944-4580A>G r.(=) p.(=) g.110757622A>G - MUSK_000019 rs7871435 0.9441 24 308 Admin
./. - c.944-1566G>T r.(=) p.(=) g.110760636G>T - MUSK_000020 rs1940245 0.2309 120 18 Admin
./. - c.944-1451C>T - - g.110760751C>T - MUSK_000021 rs1940247 0.3647 150 49 Admin
./. - c.944-1035A>G - - g.110761167A>G - MUSK_000022 rs12001728 0.9088 49 284 Admin
./. - c.951-6125C>T - - g.110769663C>T - MUSK_000023 rs13294451 0.9721 17 321 Admin
./. - c.951-5619A>G - - g.110770169A>G - MUSK_000024 rs10980564 0.5676 156 115 Admin
./. - c.951-2129C>G - - g.110773659C>G - MUSK_000025 rs2244922 0.2485 133 18 Admin
./. - c.951-1795A>G - - g.110773993A>G - MUSK_000038 rs2148584 0.6544 159 142 Admin
./. - c.1004C>T - - g.110775841C>T - MUSK_000039 rs2274419 0.0926 55 4 Admin
./. - c.1126+941A>T - - g.110776904A>T - MUSK_000034 rs2767011 0.8118 104 223 Admin
./. - c.1126+2853A>G - - g.110778816A>G - MUSK_000035 rs10980566 0.0309 19 1 Admin
./. - c.1126+2881C>T r.(=) p.(=) g.110778844C>T - MUSK_000036 rs2766984 0.3353 166 31 Admin
./. - c.1669+1550A>G - - g.110789388A>G - MUSK_000037 rs2846453 0.3676 156 47 Admin
./. - c.1669+2095C>T - - g.110789933C>T - MUSK_000030 rs2767000 0.9426 25 307 Admin
./. - c.1670-2273C>T r.(=) p.(=) g.110798033C>T - MUSK_000031 rs545437 0.0500 30 2 Admin
./. - c.1670-2119C>T - - g.110798187C>T - MUSK_000032 rs523299 0.2191 111 19 Admin
./. - c.*3088C>T - - g.110804076C>T - MUSK_000033 rs2821142 0.4191 152 66 Admin
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