All transcript variants in gene MYO18A

Information The variants shown are described using the NM_078471.3 transcript reference sequence.

402 entries on 5 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.9C>T r.(=) p.(=) g.27493950G>A Copied from the Exome Variant Server MYO18A_000363 60/10874 58/7212 2/3662
?/? c.24C>T r.(=) p.(=) g.27493935G>A Copied from the Exome Variant Server MYO18A_000362 258/11354 238/7494 20/3860
?/? c.70_78del r.(?) p.(Lys24_Glu26del) g.27493881_27493889del Copied from the Exome Variant Server MYO18A_000361 154/12004 105/7912 49/4092
?/? c.90G>A r.(=) p.(=) g.27493869C>T Copied from the Exome Variant Server MYO18A_000360 1/12936 1/8558 0/4378
?/? c.117G>A r.(?) p.(Met39Ile) g.27493842C>T Copied from the Exome Variant Server MYO18A_000359 1/12976 1/8590 0/4386
?/? c.175C>T r.(?) p.(Arg59Cys) g.27493784G>A Copied from the Exome Variant Server MYO18A_000358 1/12890 1/8542 0/4348
?/? c.210G>C r.(=) p.(=) g.27493749C>G Copied from the Exome Variant Server MYO18A_000357 1/12940 0/8582 1/4358
?/? c.213C>T r.(=) p.(=) g.27493746G>A Copied from the Exome Variant Server MYO18A_000356 210/12938 1/8578 209/4360
?/? c.246C>T r.(=) p.(=) g.27493713G>A Copied from the Exome Variant Server MYO18A_000355 147/12954 0/8580 147/4374
?/? c.447C>T r.(=) p.(=) g.27493512G>A Copied from the Exome Variant Server MYO18A_000354 14/12498 0/8384 14/4114
?/? c.593C>G r.(?) p.(Thr198Ser) g.27493366G>C Copied from the Exome Variant Server MYO18A_000353 2/12242 2/8296 0/3946
?/? c.623C>T r.(?) p.(Pro208Leu) g.27493336G>A Copied from the Exome Variant Server MYO18A_000352 1/12170 0/8268 1/3902
?/? c.624C>T r.(=) p.(=) g.27493335G>A Copied from the Exome Variant Server MYO18A_000351 4/12168 0/8266 4/3902
?/? c.730G>T r.(?) p.(Gly244Cys) g.27493229C>A Copied from the Exome Variant Server MYO18A_000350 1/12178 0/8254 1/3924
?/? c.804G>T r.(=) p.(=) g.27493155C>A Copied from the Exome Variant Server MYO18A_000349 1/12600 1/8438 0/4162
?/? c.848A>G r.(?) p.(Asn283Ser) g.27493111T>C Copied from the Exome Variant Server MYO18A_000348 1/12960 1/8574 0/4386
?/? c.889C>A r.(=) p.(=) g.27493070G>T Copied from the Exome Variant Server MYO18A_000347 8/12998 0/8594 8/4404
?/? c.941G>C r.(?) p.(Ser314Thr) g.27493018C>G Copied from the Exome Variant Server MYO18A_000346 1/12968 0/8574 1/4394
?/? c.946C>T r.(?) p.(Leu316Phe) g.27493013G>A Copied from the Exome Variant Server MYO18A_000345 4/12968 0/8572 4/4396
?/? c.964C>T r.(?) p.(Arg322Trp) g.27492995G>A Copied from the Exome Variant Server MYO18A_000344 1/12916 1/8544 0/4372
?/? c.970G>A r.(?) p.(Gly324Ser) g.27492989C>T Copied from the Exome Variant Server MYO18A_000343 19/12902 0/8546 19/4356
?/? c.972C>A r.(=) p.(=) g.27492987G>T Copied from the Exome Variant Server MYO18A_000342 1/12896 0/8546 1/4350
?/? c.983G>C r.(?) p.(Arg328Pro) g.27492976C>G Copied from the Exome Variant Server MYO18A_000341 1/12822 0/8504 1/4318
?/? c.1000-50G>A r.(=) p.(=) g.27449321C>T Copied from the Exome Variant Server MYO18A_000340 7/6674 0/4372 7/2302
?/? c.1047G>A r.(=) p.(=) g.27449224C>T Copied from the Exome Variant Server MYO18A_000339 2/12362 2/8362 0/4000
?/? c.1064_1074del r.(?) p.(Val355Glyfs*11) g.27449197_27449207del Copied from the Exome Variant Server MYO18A_000338 8/11848 6/7984 2/3864
?/? c.1136G>A r.(?) p.(Arg379His) g.27448927C>T Copied from the Exome Variant Server MYO18A_000337 1/12628 0/8444 1/4184
?/? c.1150C>T r.(?) p.(His384Tyr) g.27448913G>A Copied from the Exome Variant Server MYO18A_000336 243/12608 1/8428 242/4180
?/? c.1152C>T r.(=) p.(=) g.27448911G>A Copied from the Exome Variant Server MYO18A_000335 1/12604 1/8432 0/4172
?/? c.1153G>A r.(?) p.(Asp385Asn) g.27448910C>T Copied from the Exome Variant Server MYO18A_000334 1/12608 1/8438 0/4170
?/? c.1181A>T r.(?) p.(Asp394Val) g.27448882T>A Copied from the Exome Variant Server MYO18A_000333 1/12544 1/8412 0/4132
?/? c.1185C>T r.(=) p.(=) g.27448878G>A Copied from the Exome Variant Server MYO18A_000332 1/12534 1/8404 0/4130
?/? c.1186G>A r.(?) p.(Val396Ile) g.27448877C>T Copied from the Exome Variant Server MYO18A_000331 1/12510 1/8394 0/4116
?/? c.1194+9G>A r.(=) p.(=) g.27448860C>T Copied from the Exome Variant Server MYO18A_000330 2/12444 2/8338 0/4106
?/? c.1194+25G>C r.(=) p.(=) g.27448844C>G Copied from the Exome Variant Server MYO18A_000329 1/12458 1/8330 0/4128
?/? c.1195-42G>T r.(=) p.(=) g.27448783C>A Copied from the Exome Variant Server MYO18A_000328 2/12634 2/8418 0/4216
?/? c.1195-28A>C r.(=) p.(=) g.27448769T>G Copied from the Exome Variant Server MYO18A_000327 1/12620 0/8404 1/4216
?/? c.1213G>A r.(?) p.(Asp405Asn) g.27448723C>T Copied from the Exome Variant Server MYO18A_000326 1/12730 0/8440 1/4290
?/? c.1250A>G r.(?) p.(Asn417Ser) g.27448686T>C Copied from the Exome Variant Server MYO18A_000325 6/12782 0/8466 6/4316
?/? c.1251T>C r.(=) p.(=) g.27448685A>G Copied from the Exome Variant Server MYO18A_000324 3/12786 3/8466 0/4320
?/? c.1260C>T r.(=) p.(=) g.27448676G>A Copied from the Exome Variant Server MYO18A_000323 2/12800 0/8470 2/4330
?/? c.1269C>T r.(=) p.(=) g.27448667G>A Copied from the Exome Variant Server MYO18A_000322 12/12814 1/8484 11/4330
?/? c.1276C>T r.(?) p.(Arg426Cys) g.27448660G>A Copied from the Exome Variant Server MYO18A_000321 2/12788 0/8476 2/4312
?/? c.1277G>A r.(?) p.(Arg426His) g.27448659C>T Copied from the Exome Variant Server MYO18A_000320 2/12782 2/8474 0/4308
?/? c.1278C>G r.(=) p.(=) g.27448658G>C Copied from the Exome Variant Server MYO18A_000319 7/12788 0/8478 7/4310
?/? c.1284C>T r.(=) p.(=) g.27448652G>A Copied from the Exome Variant Server MYO18A_000318 1/12764 0/8474 1/4290
?/? c.1292C>G r.(?) p.(Ala431Gly) g.27448644G>C Copied from the Exome Variant Server MYO18A_000317 1/12728 1/8458 0/4270
?/? c.1371+9C>T r.(=) p.(=) g.27448556G>A Copied from the Exome Variant Server MYO18A_000316 1/12544 1/8416 0/4128
?/? c.1371+26C>G r.(=) p.(=) g.27448539G>C Copied from the Exome Variant Server MYO18A_000315 46/12540 0/8418 46/4122
?/? c.1371+45C>T r.(=) p.(=) g.27448520G>A Copied from the Exome Variant Server MYO18A_000314 15/12482 15/8396 0/4086
?/? c.1397G>A r.(?) p.(Arg466Gln) g.27448204C>T Copied from the Exome Variant Server MYO18A_000313 2/12734 0/8456 2/4278
?/? c.1400G>A r.(?) p.(Arg467Gln) g.27448201C>T Copied from the Exome Variant Server MYO18A_000312 1/12752 0/8460 1/4292
?/? c.1426G>T r.(?) p.(Ala476Ser) g.27448175C>A Copied from the Exome Variant Server MYO18A_000311 2/12790 1/8490 1/4300
?/? c.1480A>G r.(?) p.(Ile494Val) g.27448121T>C Copied from the Exome Variant Server MYO18A_000310 1/12754 0/8506 1/4248
?/? c.1494C>T r.(=) p.(=) g.27448107G>A Copied from the Exome Variant Server MYO18A_000309 1/12734 1/8492 0/4242
?/? c.1541A>G r.(?) p.(Tyr514Cys) g.27448060T>C Copied from the Exome Variant Server MYO18A_000308 1/12578 1/8424 0/4154
?/? c.1556C>T r.(?) p.(Ala519Val) g.27448045G>A Copied from the Exome Variant Server MYO18A_000307 1/12496 0/8388 1/4108
?/? c.1557G>A r.(=) p.(=) g.27448044C>T Copied from the Exome Variant Server MYO18A_000306 2/12478 0/8382 2/4096
?/? c.1566C>T r.(=) p.(=) g.27448035G>A Copied from the Exome Variant Server MYO18A_000305 30/12442 0/8368 30/4074
?/? c.1567G>A r.(?) p.(Gly523Arg) g.27448034C>T Copied from the Exome Variant Server MYO18A_000304 2/12390 2/8354 0/4036
?/? c.1571A>G r.(?) p.(Asn524Ser) g.27448030T>C Copied from the Exome Variant Server MYO18A_000303 1/12390 0/8356 1/4034
?/? c.1574A>T r.(?) p.(Lys525Met) g.27448027T>A Copied from the Exome Variant Server MYO18A_000302 1/12382 0/8354 1/4028
?/? c.1585+32T>G r.(=) p.(=) g.27447984A>C Copied from the Exome Variant Server MYO18A_000301 1/12278 0/8304 1/3974
?/? c.1585+36G>A r.(=) p.(=) g.27447980C>T Copied from the Exome Variant Server MYO18A_000300 3/12296 3/8310 0/3986
?/? c.1586-50A>T r.(=) p.(=) g.27447826T>A Copied from the Exome Variant Server MYO18A_000299 1/6554 1/4342 0/2212
?/? c.1586-49T>C r.(=) p.(=) g.27447825A>G Copied from the Exome Variant Server MYO18A_000298 1/12300 0/8328 1/3972
?/? c.1586-41C>T r.(=) p.(=) g.27447817G>A Copied from the Exome Variant Server MYO18A_000297 5/12322 0/8340 5/3982
?/? c.1586-37G>A r.(=) p.(=) g.27447813C>T Copied from the Exome Variant Server MYO18A_000296 1/12350 1/8348 0/4002
?/? c.1586-28G>A r.(=) p.(=) g.27447804C>T Copied from the Exome Variant Server MYO18A_000295 9/12354 0/8352 9/4002
?/? c.1638C>T r.(=) p.(=) g.27447724G>A Copied from the Exome Variant Server MYO18A_000294 1/12382 1/8354 0/4028
?/? c.1659C>T r.(=) p.(=) g.27447703G>A Copied from the Exome Variant Server MYO18A_000293 1/12404 1/8364 0/4040
?/? c.1664G>A r.(?) p.(Arg555His) g.27447698C>T Copied from the Exome Variant Server MYO18A_000292 18/12362 17/8342 1/4020
?/? c.1728+22C>T r.(=) p.(=) g.27447612G>A Copied from the Exome Variant Server MYO18A_000291 1/12428 1/8366 0/4062
?/? c.1729-18G>A r.(=) p.(=) g.27446471C>T Copied from the Exome Variant Server MYO18A_000290 1/12304 1/8282 0/4022
?/? c.1732A>G r.(?) p.(Met578Val) g.27446450T>C Copied from the Exome Variant Server MYO18A_000289 1/12350 1/8314 0/4036
?/? c.1759C>T r.(?) p.(Arg587Trp) g.27446423G>A Copied from the Exome Variant Server MYO18A_000288 14/12324 11/8310 3/4014
?/? c.1767A>G r.(=) p.(=) g.27446415T>C Copied from the Exome Variant Server MYO18A_000287 1/12316 0/8322 1/3994
?/? c.1780A>G r.(?) p.(Thr594Ala) g.27446402T>C Copied from the Exome Variant Server MYO18A_000286 1/12378 1/8340 0/4038
?/? c.1788C>T r.(=) p.(=) g.27446394G>A Copied from the Exome Variant Server MYO18A_000285 2/12378 2/8342 0/4036
?/? c.1829+41C>T r.(=) p.(=) g.27446312G>A Copied from the Exome Variant Server MYO18A_000284 1/12268 0/8292 1/3976
?/? c.1830-44C>T r.(=) p.(=) g.27445502G>A Copied from the Exome Variant Server MYO18A_000283 1/12494 0/8390 1/4104
?/? c.1830-28C>T r.(=) p.(=) g.27445486G>A Copied from the Exome Variant Server MYO18A_000282 7/12512 0/8408 7/4104
?/? c.1830-19G>A r.(=) p.(=) g.27445477C>T Copied from the Exome Variant Server MYO18A_000281 1/12504 0/8396 1/4108
?/? c.1869G>T r.(=) p.(=) g.27445419C>A Copied from the Exome Variant Server MYO18A_000280 1/12286 0/8316 1/3970
?/? c.1893+16G>T r.(=) p.(=) g.27445379C>A Copied from the Exome Variant Server MYO18A_000279 11/12054 0/8220 11/3834
?/? c.1902_1907del r.(?) p.(Gln636_Lys637del) g.27445194_27445199del Copied from the Exome Variant Server MYO18A_000278 5/11806 3/7966 2/3840
?/? c.1920G>A r.(=) p.(=) g.27445181C>T Copied from the Exome Variant Server MYO18A_000277 6/12342 6/8334 0/4008
?/? c.1951G>A r.(?) p.(Val651Met) g.27445150C>T Copied from the Exome Variant Server MYO18A_000276 1/12340 1/8328 0/4012
?/? c.2023G>C r.(?) p.(Ala675Pro) g.27445078C>G Copied from the Exome Variant Server MYO18A_000275 1/12108 1/8254 0/3854
?/? c.2039-82C>T r.(=) p.(=) g.27443555G>A Copied from the Exome Variant Server MYO18A_000274 1/4566 1/3182 0/1384
?/? c.2039-43C>G r.(=) p.(=) g.27443516G>C Copied from the Exome Variant Server MYO18A_000273 20/12376 0/8342 20/4034
?/? c.2050+41A>T r.(=) p.(=) g.27443421T>A Copied from the Exome Variant Server MYO18A_000272 1/12292 1/8312 0/3980
?/? c.2050+61G>A r.(=) p.(=) g.27443401C>T Copied from the Exome Variant Server MYO18A_000271 1/4566 1/3182 0/1384
?/? c.2050+88del r.(=) p.(=) g.27443374del Copied from the Exome Variant Server MYO18A_000270 45/11776 29/7982 16/3794
?/? c.2050+93C>T r.(=) p.(=) g.27443369G>A Copied from the Exome Variant Server MYO18A_000269 1/4566 1/3182 0/1384
?/? c.2118G>A r.(=) p.(=) g.27442791C>T Copied from the Exome Variant Server MYO18A_000268 1/12442 0/8370 1/4072
?/? c.2169G>A r.(=) p.(=) g.27442740C>T Copied from the Exome Variant Server MYO18A_000267 3/12494 0/8396 3/4098
?/? c.2188C>T r.(?) p.(Arg730Cys) g.27442721G>A Copied from the Exome Variant Server MYO18A_000266 1/12468 1/8384 0/4084
?/? c.2199C>G r.(=) p.(=) g.27442710G>C Copied from the Exome Variant Server MYO18A_000265 852/12442 355/8370 497/4072
?/? c.2227+12C>G r.(=) p.(=) g.27442670G>C Copied from the Exome Variant Server MYO18A_000264 3/12482 3/8392 0/4090
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