Unique variants in gene MAP7D3

Information The variants shown are described using the NM_001173516.1 transcript reference sequence.

126 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.31G>A r.(?) p.(Glu11Lys) g.135328486C>T Copied from the Exome Variant Server MAP7D3_000027 1/10003 0/6530 1/3473
1 c.46A>G r.(?) p.(Arg16Gly) g.135328471T>C Copied from the Exome Variant Server MAP7D3_000026 2/9924 0/6507 2/3417
1 c.61G>A r.(?) p.(Val21Met) g.135328456C>T Copied from the Exome Variant Server MAP7D3_000025 3/9879 1/6494 2/3385
1 c.116-40G>C r.(=) p.(=) g.135328347C>G Copied from the Exome Variant Server MAP7D3_000024 1/9369 0/6343 1/3026
1 c.116-29A>G r.(=) p.(=) g.135328336T>C Copied from the Exome Variant Server MAP7D3_000023 1/9351 1/6341 0/3010
1 c.121G>A r.(?) p.(Asp41Asn) g.135328302C>T Copied from the Exome Variant Server MAP7D3_000022 2/9405 2/6357 0/3048
1 c.136A>T r.(?) p.(Lys46*) g.135328287T>A Copied from the Exome Variant Server MAP7D3_000021 1/9420 1/6360 0/3060
1 c.200-34C>T r.(=) p.(=) g.135326988G>A Copied from the Exome Variant Server MAP7D3_000020 1/9451 0/6383 1/3068
1 c.204_205del r.(?) p.(Asn68Lysfs*7) g.135326949_135326950del Copied from the Exome Variant Server MAP7D3_000019 3/9133 1/6145 2/2988
1 c.293G>A r.(?) p.(Arg98Gln) g.135326861C>T Copied from the Exome Variant Server MAP7D3_000018 32/9604 30/6406 2/3198
1 c.344A>G r.(?) p.(Gln115Arg) g.135326810T>C Copied from the Exome Variant Server MAP7D3_000017 1/9728 0/6454 1/3274
1 c.363+14C>T r.(=) p.(=) g.135326777G>A Copied from the Exome Variant Server MAP7D3_000016 3/9760 0/6468 3/3292
1 c.363+28G>C r.(=) p.(=) g.135326763C>G Copied from the Exome Variant Server MAP7D3_000015 1/9742 0/6468 1/3274
1 c.363+44G>A r.(=) p.(=) g.135326747C>T Copied from the Exome Variant Server MAP7D3_000014 2/9758 0/6468 2/3290
1 c.364-16C>T r.(=) p.(=) g.135323452G>A Copied from the Exome Variant Server MAP7D3_000013 4284/9341 3404/6333 880/3008
1 c.364-2A>G r.spl? p.? g.135323438T>C Copied from the Exome Variant Server MAP7D3_000012 1/9372 0/6348 1/3024
1 c.409C>G r.(?) p.(Leu137Val) g.135323391G>C Copied from the Exome Variant Server MAP7D3_000011 2/9536 0/6414 2/3122
1 c.418G>A r.(?) p.(Asp140Asn) g.135323382C>T Copied from the Exome Variant Server MAP7D3_000126 1/9553 1/6419 0/3134
1 c.457A>G r.(?) p.(Met153Val) g.135323343T>C Copied from the Exome Variant Server MAP7D3_000125 30/9585 29/6439 1/3146
1 c.461C>T r.(?) p.(Ala154Val) g.135323339G>A Copied from the Exome Variant Server MAP7D3_000124 4/9583 0/6441 4/3142
1 c.481+37T>C r.(=) p.(=) g.135323282A>G Copied from the Exome Variant Server MAP7D3_000123 1/9448 0/6388 1/3060
1 c.482-31T>C r.(=) p.(=) g.135322676A>G Copied from the Exome Variant Server MAP7D3_000122 1/9478 1/6382 0/3096
1 c.482-29A>G r.(=) p.(=) g.135322674T>C Copied from the Exome Variant Server MAP7D3_000121 1/9483 1/6383 0/3100
1 c.491G>A r.(?) p.(Arg164Gln) g.135322636C>T Copied from the Exome Variant Server MAP7D3_000120 1/9479 1/6379 0/3100
1 c.576C>T r.(=) p.(=) g.135322551G>A Copied from the Exome Variant Server MAP7D3_000119 1/9414 1/6358 0/3056
1 c.587-2A>G r.spl? p.? g.135318500T>C Copied from the Exome Variant Server MAP7D3_000052 1/9448 1/6362 0/3086
1 c.590A>G r.(?) p.(Lys197Arg) g.135318495T>C Copied from the Exome Variant Server MAP7D3_000051 2/9452 0/6360 2/3092
1 c.679_680insC r.(?) p.(Arg227Profs*19) g.135318405_135318406insG Copied from the Exome Variant Server MAP7D3_000050 1/9133 1/6142 0/2991
1 c.682+13T>A r.(=) p.(=) g.135318390A>T Copied from the Exome Variant Server MAP7D3_000049 11/9440 0/6381 11/3059
1 c.682+22A>G r.(=) p.(=) g.135318381T>C Copied from the Exome Variant Server MAP7D3_000048 2/9425 2/6376 0/3049
1 c.683-41_683-34del r.(=) p.(=) g.135314413_135314420del Copied from the Exome Variant Server MAP7D3_000047 1/9343 0/6229 1/3114
1 c.683-26G>T r.(=) p.(=) g.135314405C>A Copied from the Exome Variant Server MAP7D3_000046 3/9700 0/6474 3/3226
1 c.683-3C>T r.spl? p.? g.135314382G>A Copied from the Exome Variant Server MAP7D3_000045 2/9738 2/6460 0/3278
1 c.711G>A r.(=) p.(=) g.135314351C>T Copied from the Exome Variant Server MAP7D3_000044 72/9760 3/6462 69/3298
1 c.730C>T r.(?) p.(Arg244Cys) g.135314332G>A Copied from the Exome Variant Server MAP7D3_000043 1/9758 1/6462 0/3296
1 c.737G>C r.(?) p.(Cys246Ser) g.135314325C>G Copied from the Exome Variant Server MAP7D3_000042 3/9766 0/6466 3/3300
1 c.758C>T r.(?) p.(Ala253Val) g.135314304G>A Copied from the Exome Variant Server MAP7D3_000041 1/9757 0/6459 1/3298
1 c.813G>A r.(=) p.(=) g.135314249C>T Copied from the Exome Variant Server MAP7D3_000040 264/9760 244/6454 20/3306
1 c.818C>T r.(?) p.(Pro273Leu) g.135314244G>A Copied from the Exome Variant Server MAP7D3_000039 13/9764 13/6460 0/3304
1 c.866C>A r.(?) p.(Pro289His) g.135314196G>T Copied from the Exome Variant Server MAP7D3_000038 1/10048 1/6542 0/3506
1 c.909G>A r.(=) p.(=) g.135314153C>T Copied from the Exome Variant Server MAP7D3_000037 2/10373 1/6632 1/3741
1 c.919G>A r.(?) p.(Ala307Thr) g.135314143C>T Copied from the Exome Variant Server MAP7D3_000036 1/10393 1/6638 0/3755
1 c.950C>T r.(?) p.(Thr317Met) g.135314112G>A Copied from the Exome Variant Server MAP7D3_000035 2/10444 0/6655 2/3789
1 c.951G>A r.(=) p.(=) g.135314111C>T Copied from the Exome Variant Server MAP7D3_000034 2/10447 0/6658 2/3789
1 c.957A>G r.(=) p.(=) g.135314105T>C Copied from the Exome Variant Server MAP7D3_000033 10/10461 0/6672 10/3789
1 c.1024G>A r.(?) p.(Ala342Thr) g.135314038C>T Copied from the Exome Variant Server MAP7D3_000032 1/10409 1/6652 0/3757
1 c.1103C>T r.(?) p.(Pro368Leu) g.135313959G>A Copied from the Exome Variant Server MAP7D3_000031 4/10065 4/6564 0/3501
1 c.1109C>T r.(?) p.(Ala370Val) g.135313953G>A Copied from the Exome Variant Server MAP7D3_000030 15/10024 4/6553 11/3471
1 c.1119A>G r.(=) p.(=) g.135313943T>C Copied from the Exome Variant Server MAP7D3_000029 1/9976 1/6547 0/3429
1 c.1127C>T r.(?) p.(Pro376Leu) g.135313935G>A Copied from the Exome Variant Server MAP7D3_000028 1/9940 0/6533 1/3407
1 c.1132G>A r.(?) p.(Val378Met) g.135313930C>T Copied from the Exome Variant Server MAP7D3_000118 1/9917 1/6516 0/3401
1 c.1138C>G r.(?) p.(Leu380Val) g.135313924G>C Copied from the Exome Variant Server MAP7D3_000117 22/9926 1/6518 21/3408
1 c.1161C>T r.(=) p.(=) g.135313901G>A Copied from the Exome Variant Server MAP7D3_000102 1/9902 0/6506 1/3396
1 c.1212A>G r.(=) p.(=) g.135313850T>C Copied from the Exome Variant Server MAP7D3_000101 1/9740 1/6444 0/3296
1 c.1215A>G r.(=) p.(=) g.135313847T>C Copied from the Exome Variant Server MAP7D3_000100 1/9746 1/6444 0/3302
1 c.1225A>G r.(?) p.(Lys409Glu) g.135313837T>C Copied from the Exome Variant Server MAP7D3_000099 35/9751 0/6443 35/3308
1 c.1226A>G r.(?) p.(Lys409Arg) g.135313836T>C Copied from the Exome Variant Server MAP7D3_000077 1/9745 0/6447 1/3298
1 c.1234G>A r.(?) p.(Val412Met) g.135313828C>T Copied from the Exome Variant Server MAP7D3_000076 1/9766 1/6458 0/3308
1 c.1242G>A r.(=) p.(=) g.135313820C>T Copied from the Exome Variant Server MAP7D3_000075 1/9761 0/6451 1/3310
1 c.1274A>G r.(?) p.(Glu425Gly) g.135313788T>C Copied from the Exome Variant Server MAP7D3_000074 2/9763 2/6466 0/3297
1 c.1295C>T r.(?) p.(Pro432Leu) g.135313767G>A Copied from the Exome Variant Server MAP7D3_000073 1/9756 1/6457 0/3299
1 c.1302A>G r.(=) p.(=) g.135313760T>C Copied from the Exome Variant Server MAP7D3_000072 1/9756 1/6457 0/3299
1 c.1344G>A r.(=) p.(=) g.135313718C>T Copied from the Exome Variant Server MAP7D3_000071 2/9673 2/6442 0/3231
1 c.1359+25A>C r.(=) p.(=) g.135313678T>G Copied from the Exome Variant Server MAP7D3_000070 1/9429 1/6365 0/3064
1 c.1360-41T>C r.(=) p.(=) g.135313166A>G Copied from the Exome Variant Server MAP7D3_000069 53/9435 0/6367 53/3068
1 c.1360-31G>A r.(=) p.(=) g.135313156C>T Copied from the Exome Variant Server MAP7D3_000068 3/9469 3/6377 0/3092
1 c.1362A>G r.(=) p.(=) g.135313123T>C Copied from the Exome Variant Server MAP7D3_000067 1/9602 0/6406 1/3196
1 c.1382C>T r.(?) p.(Ala461Val) g.135313103G>A Copied from the Exome Variant Server MAP7D3_000066 1/9717 1/6445 0/3272
1 c.1406G>A r.(?) p.(Arg469His) g.135313079C>T Copied from the Exome Variant Server MAP7D3_000065 1/9801 1/6479 0/3322
1 c.1436G>T r.(?) p.(Trp479Leu) g.135313049C>A Copied from the Exome Variant Server MAP7D3_000064 1/9906 0/6506 1/3400
1 c.1451A>C r.(?) p.(Glu484Ala) g.135313034T>G Copied from the Exome Variant Server MAP7D3_000063 5313/9915 3552/6509 1761/3406
1 c.1470G>A r.(=) p.(=) g.135313015C>T Copied from the Exome Variant Server MAP7D3_000062 1/9922 1/6504 0/3418
1 c.1487+1G>C r.spl? p.? g.135312997C>G Copied from the Exome Variant Server MAP7D3_000061 1/9873 1/6493 0/3380
1 c.1487+8G>T r.(=) p.(=) g.135312990C>A Copied from the Exome Variant Server MAP7D3_000060 1/9844 0/6484 1/3360
1 c.1487+16G>A r.(=) p.(=) g.135312982C>T Copied from the Exome Variant Server MAP7D3_000059 4/9802 0/6470 4/3332
1 c.1487+19A>G r.(=) p.(=) g.135312979T>C Copied from the Exome Variant Server MAP7D3_000058 3/9795 0/6469 3/3326
1 c.1487+34C>T r.(=) p.(=) g.135312964G>A Copied from the Exome Variant Server MAP7D3_000057 44/9724 1/6440 43/3284
1 c.1488-19G>A r.(=) p.(=) g.135312771C>T Copied from the Exome Variant Server MAP7D3_000056 1/9475 1/6391 0/3084
1 c.1488-12_1488-9del r.(=) p.(=) g.135312761_135312764del Copied from the Exome Variant Server MAP7D3_000055 1/9155 1/6149 0/3006
1 c.1505A>G r.(?) p.(Asn502Ser) g.135312735T>C Copied from the Exome Variant Server MAP7D3_000054 1/9508 0/6400 1/3108
1 c.1532T>C r.(?) p.(Ile511Thr) g.135312708A>G Copied from the Exome Variant Server MAP7D3_000053 1/9493 1/6389 0/3104
1 c.1671G>T r.(?) p.(Leu557Phe) g.135312569C>A Copied from the Exome Variant Server MAP7D3_000098 1/9484 0/6378 1/3106
1 c.1673G>A r.(?) p.(Ser558Asn) g.135312567C>T Copied from the Exome Variant Server MAP7D3_000097 1/9490 1/6380 0/3110
1 c.1696+12C>G r.(=) p.(=) g.135312532G>C Copied from the Exome Variant Server MAP7D3_000096 1/9462 0/6366 1/3096
1 c.1696+51G>T r.(=) p.(=) g.135312493C>A Copied from the Exome Variant Server MAP7D3_000095 1/9437 0/6360 1/3077
1 c.1765C>T r.(?) p.(Arg589Cys) g.135310849G>A Copied from the Exome Variant Server MAP7D3_000094 1/9491 1/6383 0/3108
1 c.1824G>T r.(?) p.(Met608Ile) g.135310790C>A Copied from the Exome Variant Server MAP7D3_000093 10/9497 0/6375 10/3122
1 c.1828C>T r.(?) p.(Gln610*) g.135310786G>A Copied from the Exome Variant Server MAP7D3_000092 1/9493 0/6375 1/3118
1 c.1829A>G r.(?) p.(Gln610Arg) g.135310785T>C Copied from the Exome Variant Server MAP7D3_000091 4370/9487 3433/6375 937/3112
1 c.1832+17C>T r.(=) p.(=) g.135310765G>A Copied from the Exome Variant Server MAP7D3_000090 809/9473 739/6375 70/3098
1 c.1833-32A>G r.(=) p.(=) g.135309622T>C Copied from the Exome Variant Server MAP7D3_000089 1/9458 0/6360 1/3098
1 c.1834G>C r.(?) p.(Val612Leu) g.135309589C>G Copied from the Exome Variant Server MAP7D3_000088 1/9567 1/6401 0/3166
1 c.1884A>G r.(=) p.(=) g.135309539T>C Copied from the Exome Variant Server MAP7D3_000087 1/9778 0/6476 1/3302
1 c.1924G>C r.(?) p.(Glu642Gln) g.135309499C>G Copied from the Exome Variant Server MAP7D3_000086 1/9801 1/6471 0/3330
1 c.1981-39A>G r.(=) p.(=) g.135308211T>C Copied from the Exome Variant Server MAP7D3_000085 1/9413 0/6355 1/3058
1 c.1981-22T>C r.(=) p.(=) g.135308194A>G Copied from the Exome Variant Server MAP7D3_000084 1/9400 0/6360 1/3040
1 c.1981-3T>A r.spl? p.? g.135308175A>T Copied from the Exome Variant Server MAP7D3_000083 1/9415 1/6365 0/3050
1 c.2024G>T r.(?) p.(Arg675Leu) g.135308129C>A Copied from the Exome Variant Server MAP7D3_000082 1/9525 1/6395 0/3130
1 c.2027A>G r.(?) p.(Lys676Arg) g.135308126T>C Copied from the Exome Variant Server MAP7D3_000081 1/9528 1/6396 0/3132
1 c.2037C>T r.(=) p.(=) g.135308116G>A Copied from the Exome Variant Server MAP7D3_000080 3/9525 0/6399 3/3126
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