Unique variants in gene KIAA1210

Information The variants shown are described using the NM_020721.1 transcript reference sequence.

181 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.17C>T r.(?) p.(Thr6Met) g.118284526G>A Copied from the Exome Variant Server KIAA1210_000178 1/9968 0/6494 1/3474
1 c.22C>G r.(?) p.(Arg8Gly) g.118284521G>C Copied from the Exome Variant Server KIAA1210_000177 1/9964 1/6498 0/3466
1 c.23G>T r.(?) p.(Arg8Leu) g.118284520C>A Copied from the Exome Variant Server KIAA1210_000176 12/9949 5/6489 7/3460
1 c.123G>A r.(=) p.(=) g.118284420C>T Copied from the Exome Variant Server KIAA1210_000175 18/9909 1/6497 17/3412
1 c.168C>G r.(=) p.(=) g.118284375G>C Copied from the Exome Variant Server KIAA1210_000174 1/9978 1/6526 0/3452
1 c.176A>G r.(?) p.(Glu59Gly) g.118284367T>C Copied from the Exome Variant Server KIAA1210_000173 17/9992 0/6528 17/3464
1 c.186C>T r.(=) p.(=) g.118284357G>A Copied from the Exome Variant Server KIAA1210_000172 1/9992 1/6524 0/3468
1 c.193G>A r.(?) p.(Glu65Lys) g.118284350C>T Copied from the Exome Variant Server KIAA1210_000171 2/10017 0/6535 2/3482
1 c.289+36_289+37insA r.(=) p.(=) g.118284217_118284218insT Copied from the Exome Variant Server KIAA1210_000170 1/9405 0/6220 1/3185
1 c.290-21T>G r.(=) p.(=) g.118281577A>C Copied from the Exome Variant Server KIAA1210_000168 3/9830 0/6492 3/3338
1 c.308G>T r.(?) p.(Gly103Val) g.118281538C>A Copied from the Exome Variant Server KIAA1210_000169 9225/9980 6521/6528 2704/3452
1 c.357C>T r.(=) p.(=) g.118281489G>A Copied from the Exome Variant Server KIAA1210_000167 3/10024 3/6562 0/3462
1 c.411-35_411-33del r.(=) p.(=) g.118257648_118257650del Copied from the Exome Variant Server KIAA1210_000166 1/9149 1/6128 0/3021
1 c.472G>A r.(?) p.(Gly158Ser) g.118257554C>T Copied from the Exome Variant Server KIAA1210_000165 4/9530 1/6398 3/3132
1 c.482-1G>A r.spl? p.? g.118250628C>T Copied from the Exome Variant Server KIAA1210_000164 1/9522 0/6384 1/3138
1 c.508C>A r.(?) p.(Leu170Ile) g.118250601G>T Copied from the Exome Variant Server KIAA1210_000163 117/9506 107/6376 10/3130
1 c.617A>G r.(?) p.(Gln206Arg) g.118250492T>C Copied from the Exome Variant Server KIAA1210_000162 1/9925 1/6504 0/3421
1 c.621C>T r.(=) p.(=) g.118250488G>A Copied from the Exome Variant Server KIAA1210_000161 1/9929 0/6504 1/3425
1 c.622G>A r.(?) p.(Val208Ile) g.118250487C>T Copied from the Exome Variant Server KIAA1210_000160 19/9945 16/6514 3/3431
1 c.650+14C>T r.(=) p.(=) g.118250445G>A Copied from the Exome Variant Server KIAA1210_000159 4/10080 0/6564 4/3516
1 c.650+20A>G r.(=) p.(=) g.118250439T>C Copied from the Exome Variant Server KIAA1210_000158 1/10103 1/6571 0/3532
1 c.650+30G>A r.(=) p.(=) g.118250429C>T Copied from the Exome Variant Server KIAA1210_000157 3/10111 0/6577 3/3534
1 c.650+31G>A r.(=) p.(=) g.118250428C>T Copied from the Exome Variant Server KIAA1210_000156 3/10109 0/6573 3/3536
1 c.650+50A>G r.(=) p.(=) g.118250409T>C Copied from the Exome Variant Server KIAA1210_000155 849/10103 127/6571 722/3532
1 c.651-10T>C r.(=) p.(=) g.118243175A>G Copied from the Exome Variant Server KIAA1210_000154 1/9672 1/6432 0/3240
1 c.653C>T r.(?) p.(Ala218Val) g.118243163G>A Copied from the Exome Variant Server KIAA1210_000153 1/9702 0/6438 1/3264
1 c.676G>A r.(?) p.(Ala226Thr) g.118243140C>T Copied from the Exome Variant Server KIAA1210_000152 2/9762 2/6460 0/3302
1 c.776A>G r.(?) p.(Gln259Arg) g.118243040T>C Copied from the Exome Variant Server KIAA1210_000151 1/9770 1/6466 0/3304
1 c.778-2A>G r.spl? p.? g.118242436T>C Copied from the Exome Variant Server KIAA1210_000150 1/9663 0/6435 1/3228
1 c.828A>C r.(=) p.(=) g.118242384T>G Copied from the Exome Variant Server KIAA1210_000149 6/9858 0/6502 6/3356
1 c.880G>A r.(?) p.(Ala294Thr) g.118242332C>T Copied from the Exome Variant Server KIAA1210_000148 148/9954 6/6530 142/3424
1 c.912+24G>A r.(=) p.(=) g.118242276C>T Copied from the Exome Variant Server KIAA1210_000147 6/9969 0/6529 6/3440
1 c.913-23C>A r.(=) p.(=) g.118239133G>T Copied from the Exome Variant Server KIAA1210_000146 3/9848 1/6478 2/3370
1 c.924G>A r.(=) p.(=) g.118239099C>T Copied from the Exome Variant Server KIAA1210_000145 1/9957 0/6513 1/3444
1 c.926G>A r.(?) p.(Arg309His) g.118239097C>T Copied from the Exome Variant Server KIAA1210_000144 1/9965 1/6513 0/3452
1 c.929G>A r.(?) p.(Arg310Gln) g.118239094C>T Copied from the Exome Variant Server KIAA1210_000143 1/9963 1/6515 0/3448
1 c.956T>G r.(?) p.(Val319Gly) g.118239067A>C Copied from the Exome Variant Server KIAA1210_000142 1/9890 0/6486 1/3404
1 c.997T>G r.(?) p.(Ser333Ala) g.118239026A>C Copied from the Exome Variant Server KIAA1210_000141 1/9743 1/6461 0/3282
1 c.1006G>C r.(?) p.(Asp336His) g.118239017C>G Copied from the Exome Variant Server KIAA1210_000140 1/9735 1/6465 0/3270
1 c.1013C>T r.(?) p.(Ser338Leu) g.118239010G>A Copied from the Exome Variant Server KIAA1210_000139 150/9707 141/6463 9/3244
1 c.1054T>C r.(=) p.(=) g.118238969A>G Copied from the Exome Variant Server KIAA1210_000138 1/9685 1/6457 0/3228
1 c.1068+8T>C r.(=) p.(=) g.118238947A>G Copied from the Exome Variant Server KIAA1210_000137 1/9644 1/6434 0/3210
1 c.1068+48C>A r.(=) p.(=) g.118238907G>T Copied from the Exome Variant Server KIAA1210_000136 11/9713 11/6441 0/3272
1 c.1069-36C>T r.(=) p.(=) g.118230690G>A Copied from the Exome Variant Server KIAA1210_000135 1/9769 0/6441 1/3328
1 c.1069-26C>T r.(=) p.(=) g.118230680G>A Copied from the Exome Variant Server KIAA1210_000134 2/9868 1/6474 1/3394
1 c.1070G>A r.(?) p.(Ser357Asn) g.118230653C>T Copied from the Exome Variant Server KIAA1210_000133 24/9946 22/6511 2/3435
1 c.1084T>A r.(?) p.(Ser362Thr) g.118230639A>T Copied from the Exome Variant Server KIAA1210_000132 2/10038 2/6527 0/3511
1 c.1088C>A r.(?) p.(Ser363Tyr) g.118230635G>T Copied from the Exome Variant Server KIAA1210_000131 1/10041 1/6522 0/3519
1 c.1128A>G r.(=) p.(=) g.118230595T>C Copied from the Exome Variant Server KIAA1210_000130 620/10134 10/6570 610/3564
1 c.1135T>G r.(?) p.(Ser379Ala) g.118230588A>C Copied from the Exome Variant Server KIAA1210_000129 2/10136 2/6570 0/3566
1 c.1143T>C r.(=) p.(=) g.118230580A>G Copied from the Exome Variant Server KIAA1210_000179 618/10135 10/6574 608/3561
1 c.1162G>A r.(?) p.(Gly388Ser) g.118230561C>T Copied from the Exome Variant Server KIAA1210_000125 1/10089 1/6554 0/3535
1 c.1214G>A r.(?) p.(Arg405His) g.118230509C>T Copied from the Exome Variant Server KIAA1210_000123 75/9831 71/6469 4/3362
1 c.1255C>T r.(?) p.(Leu419Phe) g.118230468G>A Copied from the Exome Variant Server KIAA1210_000121 562/9615 10/6425 552/3190
1 c.1266+22G>A r.(=) p.(=) g.118230435C>T Copied from the Exome Variant Server KIAA1210_000119 1/9606 0/6430 1/3176
1 c.1266+35G>A r.(=) p.(=) g.118230422C>T Copied from the Exome Variant Server KIAA1210_000117 21/9600 0/6428 21/3172
1 c.1266+36T>C r.(=) p.(=) g.118230421A>G Copied from the Exome Variant Server KIAA1210_000115 1/9602 1/6430 0/3172
1 c.1267-9C>T r.(=) p.(=) g.118228068G>A Copied from the Exome Variant Server KIAA1210_000113 29/9627 0/6427 29/3200
1 c.1267-8G>A r.(=) p.(=) g.118228067C>T Copied from the Exome Variant Server KIAA1210_000111 3/9619 0/6425 3/3194
1 c.1270C>T r.(?) p.(Arg424Cys) g.118228056G>A Copied from the Exome Variant Server KIAA1210_000109 2/9617 1/6423 1/3194
1 c.1276C>T r.(?) p.(Leu426Phe) g.118228050G>A Copied from the Exome Variant Server KIAA1210_000128 2/9619 0/6423 2/3196
1 c.1340C>T r.(?) p.(Thr447Ile) g.118227986G>A Copied from the Exome Variant Server KIAA1210_000127 1/9582 0/6422 1/3160
1 c.1356C>T r.(=) p.(=) g.118227970G>A Copied from the Exome Variant Server KIAA1210_000126 1/9551 1/6409 0/3142
1 c.1374+7A>G r.(=) p.(=) g.118227945T>C Copied from the Exome Variant Server KIAA1210_000124 43/9512 0/6398 43/3114
1 c.1374+31G>A r.(=) p.(=) g.118227921C>T Copied from the Exome Variant Server KIAA1210_000122 1/9487 0/6383 1/3104
1 c.1375-42del r.(=) p.(=) g.118227780del Copied from the Exome Variant Server KIAA1210_000120 1/9132 1/6128 0/3004
1 c.1375-40C>G r.(=) p.(=) g.118227778G>C Copied from the Exome Variant Server KIAA1210_000118 1/9468 0/6366 1/3102
1 c.1395G>A r.(=) p.(=) g.118227718C>T Copied from the Exome Variant Server KIAA1210_000116 8/9562 8/6406 0/3156
1 c.1455C>T r.(=) p.(=) g.118227658G>A Copied from the Exome Variant Server KIAA1210_000114 1/9713 0/6443 1/3270
1 c.1476C>A r.(?) p.(Asp492Glu) g.118227637G>T Copied from the Exome Variant Server KIAA1210_000112 1/9837 0/6477 1/3360
1 c.1483+16C>T r.(=) p.(=) g.118227614G>A Copied from the Exome Variant Server KIAA1210_000110 6/9886 5/6478 1/3408
1 c.1484-41G>A r.(=) p.(=) g.118223750C>T Copied from the Exome Variant Server KIAA1210_000108 1/9679 1/6447 0/3232
1 c.1484-20C>A r.(=) p.(=) g.118223729G>T Copied from the Exome Variant Server KIAA1210_000107 189/9736 180/6476 9/3260
1 c.1509C>T r.(=) p.(=) g.118223684G>A Copied from the Exome Variant Server KIAA1210_000106 9/10102 0/6583 9/3519
1 c.1567C>T r.(?) p.(Arg523Trp) g.118223626G>A Copied from the Exome Variant Server KIAA1210_000105 4/10322 0/6637 4/3685
1 c.1607G>A r.(?) p.(Arg536Lys) g.118223586C>T Copied from the Exome Variant Server KIAA1210_000104 5/10305 4/6639 1/3666
1 c.1645G>A r.(?) p.(Gly549Arg) g.118223548C>T Copied from the Exome Variant Server KIAA1210_000103 4/10190 4/6597 0/3593
1 c.1702G>A r.(?) p.(Asp568Asn) g.118223491C>T Copied from the Exome Variant Server KIAA1210_000102 1/9979 1/6516 0/3463
1 c.1746C>T r.(=) p.(=) g.118223447G>A Copied from the Exome Variant Server KIAA1210_000100 117/9914 104/6511 13/3403
1 c.1793C>T r.(?) p.(Thr598Ile) g.118223400G>A Copied from the Exome Variant Server KIAA1210_000098 1/9822 0/6474 1/3348
1 c.1833T>G r.(=) p.(=) g.118223360A>C Copied from the Exome Variant Server KIAA1210_000096 6/9749 6/6465 0/3284
1 c.1849A>G r.(?) p.(Met617Val) g.118223344T>C Copied from the Exome Variant Server KIAA1210_000094 1/9884 1/6512 0/3372
1 c.1851G>A r.(?) p.(Met617Ile) g.118223342C>T Copied from the Exome Variant Server KIAA1210_000092 1/9894 1/6508 0/3386
1 c.1878C>T r.(=) p.(=) g.118223315G>A Copied from the Exome Variant Server KIAA1210_000090 1/10028 0/6546 1/3482
1 c.1902A>G r.(=) p.(=) g.118223291T>C Copied from the Exome Variant Server KIAA1210_000088 1/10115 1/6555 0/3560
1 c.1936G>A r.(?) p.(Val646Ile) g.118223257C>T Copied from the Exome Variant Server KIAA1210_000101 2/10060 2/6544 0/3516
1 c.2033C>T r.(?) p.(Thr678Ile) g.118223160G>A Copied from the Exome Variant Server KIAA1210_000099 1/9762 1/6455 0/3307
1 c.2071G>A r.(?) p.(Ala691Thr) g.118223122C>T Copied from the Exome Variant Server KIAA1210_000097 27/9731 0/6458 27/3273
1 c.2131G>C r.(?) p.(Asp711His) g.118223062C>G Copied from the Exome Variant Server KIAA1210_000095 1/9708 1/6468 0/3240
1 c.2217G>T r.(?) p.(Gln739His) g.118222976C>A Copied from the Exome Variant Server KIAA1210_000093 1/9692 1/6450 0/3242
1 c.2219C>T r.(?) p.(Thr740Ile) g.118222974G>A Copied from the Exome Variant Server KIAA1210_000091 5/9696 0/6454 5/3242
1 c.2221T>C r.(?) p.(Phe741Leu) g.118222972A>G Copied from the Exome Variant Server KIAA1210_000089 1/9681 1/6443 0/3238
1 c.2238G>C r.(?) p.(Leu746Phe) g.118222955C>G Copied from the Exome Variant Server KIAA1210_000087 1/9672 1/6432 0/3240
1 c.2319G>A r.(=) p.(=) g.118222874C>T Copied from the Exome Variant Server KIAA1210_000086 11/9585 0/6413 11/3172
1 c.2355T>C r.(=) p.(=) g.118222838A>G Copied from the Exome Variant Server KIAA1210_000085 9/9537 9/6397 0/3140
1 c.2364G>C r.(?) p.(Glu788Asp) g.118222829C>G Copied from the Exome Variant Server KIAA1210_000084 21/9528 0/6400 21/3128
1 c.2374G>T r.(?) p.(Gly792Cys) g.118222819C>A Copied from the Exome Variant Server KIAA1210_000083 2/9547 2/6411 0/3136
1 c.2418G>A r.(=) p.(=) g.118222775C>T Copied from the Exome Variant Server KIAA1210_000082 161/9504 86/6398 75/3106
1 c.2451A>G r.(=) p.(=) g.118222742T>C Copied from the Exome Variant Server KIAA1210_000081 3/9509 0/6391 3/3118
1 c.2517G>A r.(=) p.(=) g.118222676C>T Copied from the Exome Variant Server KIAA1210_000080 1/9554 1/6400 0/3154
Legend   « First ‹ Prev     1 2     Next › Last »