Unique variants in gene ABHD12B

Information The variants shown are described using the NM_001206673.1 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

Reported     

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     
./. 1 - c.104+13C>T r.(=) p.(=) g.51339009C>T - ABHD12B_000001 rs772753106 0.001969 1 508 2378 - - Admin
./. 1 - c.104+89G>T r.(=) p.(=) g.51339085G>T - ABHD12B_000002 rs1178575947 0.002066 1 484 1027 1 - Admin
./. 1 - c.104+101G>A r.(=) p.(=) g.51339097G>A - ABHD12B_000003 rs190038452 0.00641 3 468 857 - - Admin
./. 1 - c.104+116A>G r.(=) p.(=) g.51339112A>G - ABHD12B_000005 rs541751997 0.009346 4 428 701 - - Admin
./. 1 - c.105-86_105-85insAA r.(=) p.(=) g.51344584_51344585insAA - ABHD12B_000008 rs34897289 - - - - - - Admin
./. 1 - c.105-86_105-85insAAA r.(=) p.(=) g.51344584_51344585insAAA - ABHD12B_000006 rs34897289 - - - - - - Admin
./. 1 - c.105-86_105-85insAAAA r.(=) p.(=) g.51344584_51344585insAAAA - ABHD12B_000010 rs34897289 - - - - - - Admin
./. 1 - c.105-3C>A r.spl? p.? g.51344667C>A - ABHD12B_000012 rs759593331 0.001938 1 516 6601 - - Admin
./. 1 - c.335+34T>C r.(=) p.(=) g.51345599T>C - ABHD12B_000014 rs76391304 0.00969 5 516 2840 - - Admin
./. 1 - c.335+89G>A r.(=) p.(=) g.51345654G>A - ABHD12B_000016 rs141630356 0.012 6 510 1456 - - Admin
./. 1 - c.336-147T>C r.(=) p.(=) g.51347023T>C - ABHD12B_000018 rs12889998 0.77 228 296 538 - - Admin
./. 1 - c.336-63G>A r.(=) p.(=) g.51347107G>A - ABHD12B_000020 rs2185300 0.982 503 512 2418 - - Admin
./. 1 - c.456-102C>T r.(=) p.(=) g.51348212C>T - ABHD12B_000022 rs12588155 0.028 14 494 1040 - - Admin
./. 1 - c.456-96A>G r.(=) p.(=) g.51348218A>G - ABHD12B_000024 rs771025140 0.003984 2 502 1104 - - Admin
./. 1 - c.456-32del r.(=) p.(=) g.51348282del - ABHD12B_000028 rs756756786 - - - - - - Admin
./. 1 - c.456-32dup r.(=) p.(=) g.51348282dup - ABHD12B_000026 rs756756786 0.003984 2 502 1104 - - Admin
./. 1 - c.456-32_456-31insTT r.(=) p.(=) g.51348282_51348283insTT - ABHD12B_000032 rs756756786 - - - - - - Admin
./. 1 - c.456-32_456-31insTTT r.(=) p.(=) g.51348282_51348283insTTT - ABHD12B_000030 rs756756786 - - - - - - Admin
./. 1 - c.486+1G>T r.spl? p.? g.51348345G>T - ABHD12B_000034 rs138523238 0.003876 2 516 6508 - - Admin
./. 1 - c.486+76C>A r.(=) p.(=) g.51348420C>A - ABHD12B_000004 rs144483430 0.001938 1 516 5314 - - Admin
./. 1 - c.486+77G>A r.(=) p.(=) g.51348421G>A - ABHD12B_000007 rs17794038 0.081 42 516 5275 - - Admin
./. 1 - c.486+155G>A r.(=) p.(=) g.51348499G>A - ABHD12B_000009 rs141717882 0.003891 2 514 2145 - - Admin
./. 1 - c.500G>A r.(?) p.(Gly167Asp) g.51352345G>A - ABHD12B_000011 rs35375734 0.062 32 516 8864 - - Admin
./. 1 - c.533-20T>C r.(=) p.(=) g.51352464T>C - ABHD12B_000013 rs375841741 0.001938 1 516 9570 - - Admin
./. 1 - c.575C>T r.(?) p.(Thr192Ile) g.51352526C>T - ABHD12B_000015 rs202134253 0.001938 1 516 9528 - - Admin
./. 1 - c.615A>G r.(=) p.(=) g.51352566A>G - ABHD12B_000017 rs11846037 0.003876 2 516 8539 - - Admin
./. 1 - c.657T>C r.(=) p.(=) g.51352608T>C - ABHD12B_000019 rs2297893 0.064 33 516 5378 - - Admin
./. 1 - c.663-129G>A r.(=) p.(=) g.51353236G>A - ABHD12B_000021 rs113033362 0.058 30 514 1677 - - Admin
./. 1 - c.663-91G>C r.(=) p.(=) g.51353274G>C - ABHD12B_000023 - 0.001938 1 516 2572 1 - Admin
./. 1 - c.700+91T>C r.(=) p.(=) g.51353493T>C - ABHD12B_000025 rs7158183 0.977 504 516 8289 - - Admin
./. 1 - c.701-38G>T r.(=) p.(=) g.51355504G>T - ABHD12B_000027 rs45548936 0.001938 1 516 5290 - - Admin
./. 1 - c.701-25C>A r.(=) p.(=) g.51355517C>A - ABHD12B_000029 rs10144606 0.657 339 516 5865 - - Admin
./. 1 - c.701-21C>A r.(=) p.(=) g.51355521C>A - ABHD12B_000031 rs143421414 0.001938 1 516 5756 - - Admin
./. 1 - c.755C>A r.(?) p.(Ala252Glu) g.51355596C>A - ABHD12B_000033 rs150428877 0.001938 1 516 5200 - - Admin
./. 1 - c.781-52G>A r.(=) p.(=) g.51368495G>A - ABHD12B_000035 rs17123103 0.194 97 500 1251 - - Admin
./. 1 - c.818T>C r.(?) p.(Met273Thr) g.51368584T>C - ABHD12B_000036 rs140167439 0.001938 1 516 5323 - - Admin
./. 1 - c.844A>G r.(?) p.(Ile282Val) g.51368610A>G - ABHD12B_000037 rs28564871 0.275 142 516 6214 - - Admin
./. 1 - c.863+57del r.(=) p.(=) g.51368686del - ABHD12B_000038 rs201967057 0.275 142 516 6214 - - Admin
./. 1 - c.863+63C>T r.(=) p.(=) g.51368692C>T - ABHD12B_000040 rs143277274 0.001938 1 516 5604 - - Admin
./. 1 - c.863+87T>A r.(=) p.(=) g.51368716T>A - ABHD12B_000042 rs139264163 0.001938 1 516 4740 - - Admin
./. 1 - c.863+104C>T r.(=) p.(=) g.51368733C>T - ABHD12B_000044 rs77759271 0.003876 2 516 4141 - - Admin
./. 1 - c.863+127T>A r.(=) p.(=) g.51368756T>A - ABHD12B_000046 rs28485307 0.269 139 516 3186 - - Admin
./. 1 - c.864-60A>C r.(=) p.(=) g.51370047A>C - ABHD12B_000048 - 0.001976 1 506 1272 1 - Admin
./. 1 - c.943-8G>C r.(=) p.(=) g.51370784G>C - ABHD12B_000050 rs4901064 0.275 142 516 7725 - - Admin
./. 1 - c.1000T>C r.(?) p.(Phe334Leu) g.51370849T>C - ABHD12B_000039 rs7154732 0.027 14 516 7934 - - Admin
./. 1 - c.1003C>G r.(?) p.(Pro335Ala) g.51370852C>G - ABHD12B_000041 rs34800262 0.074 38 516 7917 - - Admin
./. 1 - c.1062-25G>A r.(=) p.(=) g.51371032G>A - ABHD12B_000043 rs79893513 0.001938 1 516 7332 - - Admin
./. 1 - c.1086A>C r.(=) p.(=) g.51371081A>C - ABHD12B_000045 rs17123116 0.023 12 516 8186 - - Admin
./. 1 - c.*37C>T r.(=) p.(=) g.51371121C>T - ABHD12B_000047 rs4901065 0.273 141 516 7223 - - Admin
./. 1 - c.*46C>T r.(=) p.(=) g.51371130C>T - ABHD12B_000049 rs11157780 0.258 133 516 6846 - - Admin
./. 1 - c.*66C>T r.(=) p.(=) g.51371150C>T - ABHD12B_000051 rs11157781 0.273 141 516 5502 - - Admin
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