Unique variants in gene SRL

Information The variants shown are described using the NM_001098814.1 transcript reference sequence.

104 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.8C>T r.(?) p.(Ala3Val) g.4292061G>A Copied from the Exome Variant Server SRL_000104 1/12690 0/8480 1/4210
1 c.11T>A r.(?) p.(Leu4Gln) g.4292058A>T Copied from the Exome Variant Server SRL_000103 2/12712 2/8490 0/4222
1 c.21C>T r.(=) p.(=) g.4292048G>A Copied from the Exome Variant Server SRL_000102 1/12732 0/8496 1/4236
1 c.27C>T r.(=) p.(=) g.4292042G>A Copied from the Exome Variant Server SRL_000101 1/12758 1/8506 0/4252
1 c.36C>G r.(=) p.(=) g.4292033G>C Copied from the Exome Variant Server SRL_000100 1/12752 1/8504 0/4248
1 c.61+6G>T r.(=) p.(=) g.4292002C>A Copied from the Exome Variant Server SRL_000099 2537/12736 1966/8498 571/4238
1 c.61+8C>A r.(=) p.(=) g.4292000G>T Copied from the Exome Variant Server SRL_000098 1/12728 1/8494 0/4234
1 c.61+44C>T r.(=) p.(=) g.4291964G>A Copied from the Exome Variant Server SRL_000097 19/12708 1/8484 18/4224
1 c.61+53C>T r.(=) p.(=) g.4291955G>A Copied from the Exome Variant Server SRL_000096 4/4566 0/3182 4/1384
1 c.62-50C>T r.(=) p.(=) g.4254685G>A Copied from the Exome Variant Server SRL_000095 1/12176 1/8292 0/3884
1 c.62-26A>G r.(=) p.(=) g.4254661T>C Copied from the Exome Variant Server SRL_000094 1/12168 1/8282 0/3886
1 c.68C>T r.(?) p.(Thr23Met) g.4254629G>A Copied from the Exome Variant Server SRL_000093 2/12148 2/8280 0/3868
1 c.69G>A r.(=) p.(=) g.4254628C>T Copied from the Exome Variant Server SRL_000092 1/12138 0/8280 1/3858
1 c.85G>A r.(?) p.(Glu29Lys) g.4254612C>T Copied from the Exome Variant Server SRL_000091 2/12142 2/8284 0/3858
1 c.94T>C r.(=) p.(=) g.4254603A>G Copied from the Exome Variant Server SRL_000090 1/12154 0/8284 1/3870
1 c.103C>T r.(?) p.(Arg35Cys) g.4254594G>A Copied from the Exome Variant Server SRL_000089 1/12174 1/8288 0/3886
1 c.131T>C r.(?) p.(Leu44Pro) g.4254566A>G Copied from the Exome Variant Server SRL_000088 1/12120 1/8256 0/3864
1 c.147A>G r.(=) p.(=) g.4254550T>C Copied from the Exome Variant Server SRL_000087 123/12100 105/8252 18/3848
1 c.150C>T r.(=) p.(=) g.4254547G>A Copied from the Exome Variant Server SRL_000086 1/12074 1/8240 0/3834
1 c.163+11G>A r.(=) p.(=) g.4254523C>T Copied from the Exome Variant Server SRL_000085 4029/11994 3216/8208 813/3786
1 c.163+15G>A r.(=) p.(=) g.4254519C>T Copied from the Exome Variant Server SRL_000084 32/11984 30/8208 2/3776
1 c.163+29G>T r.(=) p.(=) g.4254505C>A Copied from the Exome Variant Server SRL_000083 1/11960 0/8194 1/3766
1 c.163+34G>C r.(=) p.(=) g.4254500C>G Copied from the Exome Variant Server SRL_000082 1/11948 1/8192 0/3756
1 c.163+36G>A r.(=) p.(=) g.4254498C>T Copied from the Exome Variant Server SRL_000081 1/11942 1/8188 0/3754
1 c.163+41C>T r.(=) p.(=) g.4254493G>A Copied from the Exome Variant Server SRL_000080 308/11900 3/8174 305/3726
1 c.163+44C>G r.(=) p.(=) g.4254490G>C Copied from the Exome Variant Server SRL_000079 64/11858 58/8162 6/3696
1 c.164-34G>A r.(=) p.(=) g.4253296C>T Copied from the Exome Variant Server SRL_000078 185/12436 1/8372 184/4064
1 c.164-18G>A r.(=) p.(=) g.4253280C>T Copied from the Exome Variant Server SRL_000077 1/12406 0/8370 1/4036
1 c.170T>C r.(?) p.(Leu57Pro) g.4253256A>G Copied from the Exome Variant Server SRL_000076 1/12430 1/8390 0/4040
1 c.175C>A r.(=) p.(=) g.4253251G>T Copied from the Exome Variant Server SRL_000075 2/12422 2/8380 0/4042
1 c.221C>A r.(?) p.(Ser74Tyr) g.4253205G>T Copied from the Exome Variant Server SRL_000074 2/12514 1/8414 1/4100
1 c.252G>C r.(?) p.(Glu84Asp) g.4253174C>G Copied from the Exome Variant Server SRL_000073 75/12566 2/8420 73/4146
1 c.259+15A>T r.(=) p.(=) g.4253152T>A Copied from the Exome Variant Server SRL_000072 31/12542 0/8398 31/4144
1 c.259+15_259+33del r.(=) p.(=) g.4253134_4253152del Copied from the Exome Variant Server SRL_000071 93/11918 25/7990 68/3928
1 c.259+36C>T r.(=) p.(=) g.4253131G>A Copied from the Exome Variant Server SRL_000070 3035/12496 1658/8376 1377/4120
1 c.259+37G>A r.(=) p.(=) g.4253130C>T Copied from the Exome Variant Server SRL_000069 3050/12502 1678/8386 1372/4116
1 c.259+39G>A r.(=) p.(=) g.4253128C>T Copied from the Exome Variant Server SRL_000068 1/12506 1/8392 0/4114
1 c.259+42C>T r.(=) p.(=) g.4253125G>A Copied from the Exome Variant Server SRL_000067 92/12486 1/8388 91/4098
1 c.259+45C>T r.(=) p.(=) g.4253122G>A Copied from the Exome Variant Server SRL_000066 1/12472 1/8384 0/4088
1 c.259+47C>T r.(=) p.(=) g.4253120G>A Copied from the Exome Variant Server SRL_000065 1/12478 0/8384 1/4094
1 c.259+50G>A r.(=) p.(=) g.4253117C>T Copied from the Exome Variant Server SRL_000064 1587/12494 1337/8390 250/4104
1 c.260-44A>G r.(=) p.(=) g.4247960T>C Copied from the Exome Variant Server SRL_000063 1/12250 1/8308 0/3942
1 c.260-27T>A r.(=) p.(=) g.4247943A>T Copied from the Exome Variant Server SRL_000062 1/12208 0/8288 1/3920
1 c.291G>C r.(=) p.(=) g.4247885C>G Copied from the Exome Variant Server SRL_000061 16/12056 15/8222 1/3834
1 c.303G>A r.(=) p.(=) g.4247873C>T Copied from the Exome Variant Server SRL_000060 2/12032 2/8222 0/3810
1 c.313G>C r.(?) p.(Gly105Arg) g.4247863C>G Copied from the Exome Variant Server SRL_000059 1/12026 1/8224 0/3802
1 c.376+13C>A r.(=) p.(=) g.4247787G>T Copied from the Exome Variant Server SRL_000058 3/11884 0/8190 3/3694
1 c.376+15T>C r.(=) p.(=) g.4247785A>G Copied from the Exome Variant Server SRL_000057 1/11884 0/8192 1/3692
1 c.377-49T>A r.(=) p.(=) g.4245836A>T Copied from the Exome Variant Server SRL_000056 624/12426 1/8346 623/4080
1 c.377-33T>A r.(=) p.(=) g.4245820A>T Copied from the Exome Variant Server SRL_000055 1/12486 1/8360 0/4126
1 c.377-6G>T r.(=) p.(=) g.4245793C>A Copied from the Exome Variant Server SRL_000054 2/12538 0/8380 2/4158
1 c.471T>C r.(=) p.(=) g.4245693A>G Copied from the Exome Variant Server SRL_000053 9572/12296 5902/8320 3670/3976
1 c.481C>T r.(?) p.(Pro161Ser) g.4245683G>A Copied from the Exome Variant Server SRL_000052 1/12216 1/8296 0/3920
1 c.508C>T r.(=) p.(=) g.4245656G>A Copied from the Exome Variant Server SRL_000051 178/12044 1/8254 177/3790
1 c.535C>T r.(?) p.(Pro179Ser) g.4245629G>A Copied from the Exome Variant Server SRL_000050 1/12034 1/8248 0/3786
1 c.594C>T r.(=) p.(=) g.4245570G>A Copied from the Exome Variant Server SRL_000049 1/12094 0/8260 1/3834
1 c.610+24C>T r.(=) p.(=) g.4245530G>A Copied from the Exome Variant Server SRL_000048 1/12060 1/8248 0/3812
1 c.610+26G>A r.(=) p.(=) g.4245528C>T Copied from the Exome Variant Server SRL_000047 69/12048 0/8248 69/3800
1 c.611-37C>A r.(=) p.(=) g.4243002G>T Copied from the Exome Variant Server SRL_000046 1/12172 1/8278 0/3894
1 c.611-30del r.(=) p.(=) g.4242995del Copied from the Exome Variant Server SRL_000045 1/11692 0/7928 1/3764
1 c.696G>T r.(=) p.(=) g.4242880C>A Copied from the Exome Variant Server SRL_000044 7/12262 0/8300 7/3962
1 c.697G>T r.(?) p.(Gly233Cys) g.4242879C>A Copied from the Exome Variant Server SRL_000043 1/12264 1/8298 0/3966
1 c.713T>C r.(?) p.(Met238Thr) g.4242863A>G Copied from the Exome Variant Server SRL_000042 1/12272 0/8296 1/3976
1 c.736C>T r.(?) p.(Arg246Cys) g.4242840G>A Copied from the Exome Variant Server SRL_000041 1/12212 1/8280 0/3932
1 c.737G>A r.(?) p.(Arg246His) g.4242839C>T Copied from the Exome Variant Server SRL_000040 1/12198 0/8280 1/3918
1 c.792G>A r.(?) p.(Met264Ile) g.4242784C>T Copied from the Exome Variant Server SRL_000039 1/12048 1/8232 0/3816
1 c.807C>T r.(=) p.(=) g.4242769G>A Copied from the Exome Variant Server SRL_000038 1/11988 1/8210 0/3778
1 c.814C>G r.(?) p.(Leu272Val) g.4242762G>C Copied from the Exome Variant Server SRL_000037 1/11976 1/8212 0/3764
1 c.867C>T r.(=) p.(=) g.4242709G>A Copied from the Exome Variant Server SRL_000036 204/12138 2/8274 202/3864
1 c.868G>A r.(?) p.(Val290Ile) g.4242708C>T Copied from the Exome Variant Server SRL_000035 1/12178 0/8288 1/3890
1 c.951C>T r.(=) p.(=) g.4242625G>A Copied from the Exome Variant Server SRL_000034 1/12508 0/8392 1/4116
1 c.967G>A r.(?) p.(Glu323Lys) g.4242609C>T Copied from the Exome Variant Server SRL_000033 2/12626 0/8434 2/4192
1 c.973A>C r.(=) p.(=) g.4242603T>G Copied from the Exome Variant Server SRL_000032 1/12670 1/8454 0/4216
1 c.984C>A r.(?) p.(Asn328Lys) g.4242592G>T Copied from the Exome Variant Server SRL_000031 1/12682 0/8456 1/4226
1 c.1016G>A r.(?) p.(Arg339Gln) g.4242560C>T Copied from the Exome Variant Server SRL_000030 1/12710 1/8472 0/4238
1 c.1017G>C r.(=) p.(=) g.4242559C>G Copied from the Exome Variant Server SRL_000029 1/12704 1/8468 0/4236
1 c.1026C>T r.(=) p.(=) g.4242550G>A Copied from the Exome Variant Server SRL_000028 1/12716 0/8474 1/4242
1 c.1030G>A r.(?) p.(Ala344Thr) g.4242546C>T Copied from the Exome Variant Server SRL_000027 1/12702 0/8470 1/4232
1 c.1035C>A r.(=) p.(=) g.4242541G>T Copied from the Exome Variant Server SRL_000026 1/12678 1/8456 0/4222
1 c.1046G>A r.(?) p.(Arg349His) g.4242530C>T Copied from the Exome Variant Server SRL_000025 1/12668 0/8458 1/4210
1 c.1125C>T r.(=) p.(=) g.4242451G>A Copied from the Exome Variant Server SRL_000024 1/12328 0/8358 1/3970
1 c.1143C>T r.(=) p.(=) g.4242433G>A Copied from the Exome Variant Server SRL_000023 4/12262 0/8340 4/3922
1 c.1182C>T r.(=) p.(=) g.4242394G>A Copied from the Exome Variant Server SRL_000022 1/12162 1/8302 0/3860
1 c.1192C>T r.(?) p.(Arg398Cys) g.4242384G>A Copied from the Exome Variant Server SRL_000021 1/12102 1/8288 0/3814
1 c.1195G>A r.(?) p.(Glu399Lys) g.4242381C>T Copied from the Exome Variant Server SRL_000020 1/12088 1/8280 0/3808
1 c.1215C>T r.(=) p.(=) g.4242361G>A Copied from the Exome Variant Server SRL_000019 1/12048 1/8262 0/3786
1 c.1216G>A r.(?) p.(Gly406Ser) g.4242360C>T Copied from the Exome Variant Server SRL_000018 1/12048 1/8264 0/3784
1 c.1224T>C r.(=) p.(=) g.4242352A>G Copied from the Exome Variant Server SRL_000017 1/12056 0/8270 1/3786
1 c.1234A>G r.(?) p.(Ser412Gly) g.4242342T>C Copied from the Exome Variant Server SRL_000016 1/12046 1/8254 0/3792
1 c.1255C>G r.(?) p.(Gln419Glu) g.4242321G>C Copied from the Exome Variant Server SRL_000015 1/12018 1/8236 0/3782
1 c.1279T>C r.(?) p.(Phe427Leu) g.4242297A>G Copied from the Exome Variant Server SRL_000014 1/12012 1/8224 0/3788
1 c.1297C>T r.(?) p.(Arg433Trp) g.4242279G>A Copied from the Exome Variant Server SRL_000013 1/11996 1/8202 0/3794
1 c.1320G>A r.(=) p.(=) g.4242256C>T Copied from the Exome Variant Server SRL_000012 61/11994 1/8224 60/3770
1 c.1323C>A r.(=) p.(=) g.4242253G>T Copied from the Exome Variant Server SRL_000011 1/12006 1/8230 0/3776
1 c.1332T>C r.(=) p.(=) g.4242244A>G Copied from the Exome Variant Server SRL_000010 3/12012 3/8228 0/3784
1 c.1338C>T r.(=) p.(=) g.4242238G>A Copied from the Exome Variant Server SRL_000009 3/12014 3/8226 0/3788
1 c.1342C>T r.(?) p.(Leu448Phe) g.4242234G>A Copied from the Exome Variant Server SRL_000008 1/12040 1/8236 0/3804
1 c.1344C>T r.(=) p.(=) g.4242232G>A Copied from the Exome Variant Server SRL_000007 4/12038 0/8236 4/3802
1 c.1375A>G r.(?) p.(Lys459Glu) g.4242201T>C Copied from the Exome Variant Server SRL_000006 1/12120 0/8262 1/3858
1 c.1385G>A r.(?) p.(Cys462Tyr) g.4242191C>T Copied from the Exome Variant Server SRL_000005 1/12150 1/8272 0/3878
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