Unique variants in gene ARL13A

Information The variants shown are described using the NM_001012990.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.-14-33_-14-31del r.(=) p.(=) g.100228632_100228634del Copied from the Exome Variant Server ARL13A_000001 33/9147 23/6143 10/3004
1 c.-14-30C>A r.(=) p.(=) g.100228635C>A Copied from the Exome Variant Server ARL13A_000002 7/9470 0/6381 7/3089
1 c.7C>T r.(?) p.(Arg3Trp) g.100228685C>T Copied from the Exome Variant Server ARL13A_000003 1/9480 1/6387 0/3093
1 c.8G>A r.(?) p.(Arg3Gln) g.100228686G>A Copied from the Exome Variant Server ARL13A_000004 1/9480 0/6387 1/3093
1 c.41C>G r.(?) p.(Thr14Arg) g.100228719C>G Copied from the Exome Variant Server ARL13A_000005 1/9499 0/6395 1/3104
1 c.55C>T r.(?) p.(Arg19*) g.100228733C>T Copied from the Exome Variant Server ARL13A_000006 1/9508 1/6396 0/3112
1 c.59+38T>C r.(=) p.(=) g.100228775T>C Copied from the Exome Variant Server ARL13A_000007 1/9518 0/6398 1/3120
1 c.60-31C>G r.(=) p.(=) g.100229085C>G Copied from the Exome Variant Server ARL13A_000008 1/9465 0/6364 1/3101
1 c.84_85insT r.(?) p.(Leu29Phefs*20) g.100229140_100229141insT Copied from the Exome Variant Server ARL13A_000009 183/9129 127/6131 56/2998
1 c.130+13G>A r.(=) p.(=) g.100229199G>A Copied from the Exome Variant Server ARL13A_000010 1/9523 0/6381 1/3142
1 c.131-8A>C r.(=) p.(=) g.100240648A>C Copied from the Exome Variant Server ARL13A_000011 1/9735 0/6459 1/3276
1 c.131-3C>T r.spl? p.? g.100240653C>T Copied from the Exome Variant Server ARL13A_000012 1/9748 0/6460 1/3288
1 c.152A>T r.(?) p.(His51Leu) g.100240677A>T Copied from the Exome Variant Server ARL13A_000013 2/9746 0/6460 2/3286
1 c.166G>A r.(?) p.(Glu56Lys) g.100240691G>A Copied from the Exome Variant Server ARL13A_000014 6/9745 6/6467 0/3278
1 c.193T>C r.(?) p.(Tyr65His) g.100240718T>C Copied from the Exome Variant Server ARL13A_000015 1/9741 1/6459 0/3282
1 c.245G>A r.(?) p.(Trp82*) g.100240770G>A Copied from the Exome Variant Server ARL13A_000016 1/9772 1/6470 0/3302
1 c.285C>T r.(=) p.(=) g.100240810C>T Copied from the Exome Variant Server ARL13A_000017 6/9828 6/6494 0/3334
1 c.347del r.(?) p.(Asp117Ilefs*10) g.100240872del Copied from the Exome Variant Server ARL13A_000018 1/9410 1/6230 0/3180
1 c.349G>A r.(?) p.(Asp117Asn) g.100240874G>A Copied from the Exome Variant Server ARL13A_000019 1/9747 0/6467 1/3280
1 c.380+30G>A r.(=) p.(=) g.100240935G>A Copied from the Exome Variant Server ARL13A_000020 2/9598 2/6426 0/3172
1 c.380+43T>A r.(=) p.(=) g.100240948T>A Copied from the Exome Variant Server ARL13A_000021 125/9571 117/6415 8/3156
1 c.381-3T>C r.spl? p.? g.100241782T>C Copied from the Exome Variant Server ARL13A_000022 57/9583 0/6403 57/3180
1 c.482G>A r.(?) p.(Arg161Gln) g.100241886G>A Copied from the Exome Variant Server ARL13A_000023 1/9866 0/6458 1/3408
1 c.486+13C>T r.(=) p.(=) g.100241903C>T Copied from the Exome Variant Server ARL13A_000024 2/9899 2/6473 0/3426
1 c.487-13_487-9del r.(=) p.(=) g.100242366_100242370del Copied from the Exome Variant Server ARL13A_000025 10/9262 6/6184 4/3078
1 c.487-5C>T r.spl? p.? g.100242374C>T Copied from the Exome Variant Server ARL13A_000026 2/9636 2/6440 0/3196
1 c.487-1G>C r.spl? p.? g.100242378G>C Copied from the Exome Variant Server ARL13A_000027 1/9647 1/6439 0/3208
1 c.502A>G r.(?) p.(Ile168Val) g.100242394A>G Copied from the Exome Variant Server ARL13A_000028 4/9706 0/6450 4/3256
1 c.555G>C r.(?) p.(Trp185Cys) g.100242447G>C Copied from the Exome Variant Server ARL13A_000029 1/9832 1/6473 0/3359
1 c.583C>G r.(?) p.(Leu195Val) g.100242475C>G Copied from the Exome Variant Server ARL13A_000030 1/9796 0/6465 1/3331
1 c.644C>T r.(?) p.(Ser215Leu) g.100242536C>T Copied from the Exome Variant Server ARL13A_000031 1434/9729 797/6453 637/3276
1 c.654-37C>T r.(=) p.(=) g.100243145C>T Copied from the Exome Variant Server ARL13A_000032 1/9837 1/6463 0/3374
1 c.654-36G>A r.(=) p.(=) g.100243146G>A Copied from the Exome Variant Server ARL13A_000033 1/9825 1/6461 0/3364
1 c.654-35T>C r.(=) p.(=) g.100243147T>C Copied from the Exome Variant Server ARL13A_000034 1/9833 1/6463 0/3370
1 c.654-8T>C r.(=) p.(=) g.100243174T>C Copied from the Exome Variant Server ARL13A_000035 12/9818 1/6453 11/3365
1 c.715G>A r.(?) p.(Glu239Lys) g.100243243G>A Copied from the Exome Variant Server ARL13A_000036 1/9734 1/6444 0/3290
1 c.744+19G>A r.(=) p.(=) g.100243291G>A Copied from the Exome Variant Server ARL13A_000037 1270/9647 790/6421 480/3226
1 c.744+40C>T r.(=) p.(=) g.100243312C>T Copied from the Exome Variant Server ARL13A_000038 17/9634 0/6414 17/3220
1 c.745-30T>A r.(=) p.(=) g.100243337T>A Copied from the Exome Variant Server ARL13A_000039 1/9619 1/6409 0/3210
1 c.745-16_745-14del r.(=) p.(=) g.100243351_100243353del Copied from the Exome Variant Server ARL13A_000040 25/9245 19/6163 6/3082
1 c.802G>T r.(?) p.(Glu268*) g.100243424G>T Copied from the Exome Variant Server ARL13A_000041 1/9592 1/6406 0/3186
1 c.810_811insA r.(?) p.(Glu272Argfs*3) g.100243432_100243433insA Copied from the Exome Variant Server ARL13A_000042 1/9241 1/6173 0/3068
1 c.816A>T r.(?) p.(Glu272Asp) g.100243438A>T Copied from the Exome Variant Server ARL13A_000043 1/9581 0/6413 1/3168
1 c.819T>C r.(=) p.(=) g.100243441T>C Copied from the Exome Variant Server ARL13A_000044 63/9583 1/6415 62/3168
1 c.837G>T r.(?) p.(Met279Ile) g.100243459G>T Copied from the Exome Variant Server ARL13A_000045 8601/9589 5876/6425 2725/3164
1 c.854C>T r.(?) p.(Thr285Met) g.100243476C>T Copied from the Exome Variant Server ARL13A_000046 1/9589 0/6427 1/3162
1 c.*29A>G r.(=) p.(=) g.100243524A>G Copied from the Exome Variant Server ARL13A_000047 1/9608 1/6432 0/3176
1 c.*37G>T r.(=) p.(=) g.100243532G>T Copied from the Exome Variant Server ARL13A_000048 1/9603 0/6423 1/3180
1 c.*108A>G r.(=) p.(=) g.100245606A>G Copied from the Exome Variant Server ARL13A_000049 3015/3600 2055/2391 960/1209
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