Full data view for gene REL

Information The variants shown are described using the NM_002908.2 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-74_-71del r.(=) p.(=) g.61108902_61108905del Copied from the Exome Variant Server REL_000001 62/8424 35/5554 27/2870 - - - - - - -
?/? c.-50C>G r.(=) p.(=) g.61108926C>G Copied from the Exome Variant Server REL_000002 38/9970 34/6604 4/3366 - - - - - - -
?/? c.10+11A>T r.(=) p.(=) g.61108996A>T Copied from the Exome Variant Server REL_000003 792/11492 458/7660 334/3832 - - - - - - -
?/? c.11-47T>G r.(=) p.(=) g.61118771T>G Copied from the Exome Variant Server REL_000004 2/13002 0/8600 2/4402 - - - - - - -
?/? c.14C>T r.(?) p.(Ala5Val) g.61118821C>T Copied from the Exome Variant Server REL_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.15G>A r.(=) p.(=) g.61118822G>A Copied from the Exome Variant Server REL_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.24G>A r.(=) p.(=) g.61118831G>A Copied from the Exome Variant Server REL_000007 9/13006 0/8600 9/4406 - - - - - - -
?/? c.29T>C r.(?) p.(Ile10Thr) g.61118836T>C Copied from the Exome Variant Server REL_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.49_78del r.(?) p.(Arg17_Lys26del) g.61118856_61118885del Copied from the Exome Variant Server REL_000010 1/12520 0/8254 1/4266 - - - - - - -
?/? c.64C>T r.(?) p.(Arg22Cys) g.61118871C>T Copied from the Exome Variant Server REL_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.133C>A r.(=) p.(=) g.61118940C>A Copied from the Exome Variant Server REL_000014 4/13006 0/8600 4/4406 - - - - - - -
?/? c.153+26T>C r.(=) p.(=) g.61118986T>C Copied from the Exome Variant Server REL_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.153+37G>A r.(=) p.(=) g.61118997G>A Copied from the Exome Variant Server REL_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.153+45A>T r.(=) p.(=) g.61119005A>T Copied from the Exome Variant Server REL_000009 98/13006 90/8600 8/4406 - - - - - - -
?/? c.154-46A>C r.(=) p.(=) g.61121486A>C Copied from the Exome Variant Server REL_000011 1/12972 0/8584 1/4388 - - - - - - -
?/? c.154-40G>A r.(=) p.(=) g.61121492G>A Copied from the Exome Variant Server REL_000013 12516/12992 8166/8594 4350/4398 - - - - - - -
?/? c.154-36A>G r.(=) p.(=) g.61121496A>G Copied from the Exome Variant Server REL_000016 1/13002 1/8598 0/4404 - - - - - - -
?/? c.154-9T>A r.(=) p.(=) g.61121523T>A Copied from the Exome Variant Server REL_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.168T>C r.(=) p.(=) g.61121546T>C Copied from the Exome Variant Server REL_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.192A>G r.(=) p.(=) g.61121570A>G Copied from the Exome Variant Server REL_000020 228/13006 1/8600 227/4406 - - - - - - -
?/? c.258C>T r.(=) p.(=) g.61121636C>T Copied from the Exome Variant Server REL_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.290G>A r.(?) p.(Arg97His) g.61121668G>A Copied from the Exome Variant Server REL_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.302+26C>T r.(=) p.(=) g.61121706C>T Copied from the Exome Variant Server REL_000023 3/13006 0/8600 3/4406 - - - - - - -
?/? c.302+31_302+35del r.(=) p.(=) g.61121711_61121715del Copied from the Exome Variant Server REL_000024 1/12520 1/8254 0/4266 - - - - - - -
?/? c.303-18T>C r.(=) p.(=) g.61128109T>C Copied from the Exome Variant Server REL_000025 1/13000 0/8600 1/4400 - - - - - - -
?/? c.303-16_303-15insT r.(=) p.(=) g.61128111_61128112insT Copied from the Exome Variant Server REL_000026 5/12510 2/8254 3/4256 - - - - - - -
?/? c.394+28A>G r.(=) p.(=) g.61128246A>G Copied from the Exome Variant Server REL_000027 1/12966 1/8568 0/4398 - - - - - - -
?/? c.394+50G>A r.(=) p.(=) g.61128268G>A Copied from the Exome Variant Server REL_000029 2935/12906 2014/8530 921/4376 - - - - - - -
?/? c.395-25T>A r.(=) p.(=) g.61143987T>A Copied from the Exome Variant Server REL_000031 3/13006 0/8600 3/4406 - - - - - - -
?/? c.395-18del r.(=) p.(=) g.61143994del Copied from the Exome Variant Server REL_000034 64/12518 41/8254 23/4264 - - - - - - -
?/? c.395-18dup r.(=) p.(=) g.61143994dup Copied from the Exome Variant Server REL_000033 22/12518 10/8254 12/4264 - - - - - - -
?/? c.513C>T r.(=) p.(=) g.61144130C>T Copied from the Exome Variant Server REL_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.535+12A>G r.(=) p.(=) g.61144164A>G Copied from the Exome Variant Server REL_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.535+31_535+35del r.(=) p.(=) g.61144183_61144187del Copied from the Exome Variant Server REL_000041 3/12520 2/8254 1/4266 - - - - - - -
?/? c.535+39_535+40insT r.(=) p.(=) g.61144191_61144192insT Copied from the Exome Variant Server REL_000042 5/12520 0/8254 5/4266 - - - - - - -
?/? c.535+48A>G r.(=) p.(=) g.61144200A>G Copied from the Exome Variant Server REL_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.564T>C r.(=) p.(=) g.61145354T>C Copied from the Exome Variant Server REL_000046 1/13000 1/8594 0/4406 - - - - - - -
?/? c.584G>C r.(?) p.(Cys195Ser) g.61145374G>C Copied from the Exome Variant Server REL_000048 1/13002 1/8596 0/4406 - - - - - - -
?/? c.641-49C>T r.(=) p.(=) g.61145480C>T Copied from the Exome Variant Server REL_000028 155/12972 2/8588 153/4384 - - - - - - -
?/? c.754G>A r.(?) p.(Ala252Thr) g.61145642G>A Copied from the Exome Variant Server REL_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.767C>A r.(?) p.(Pro256His) g.61145655C>A Copied from the Exome Variant Server REL_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.854-29A>G r.(=) p.(=) g.61147147A>G Copied from the Exome Variant Server REL_000035 1/13004 1/8600 0/4404 - - - - - - -
?/? c.854-3C>T r.spl? p.? g.61147173C>T Copied from the Exome Variant Server REL_000037 2/13004 2/8598 0/4406 - - - - - - -
?/? c.866A>G r.(?) p.(Asn289Ser) g.61147188A>G Copied from the Exome Variant Server REL_000039 1/13004 0/8598 1/4406 - - - - - - -
?/? c.921C>T r.(=) p.(=) g.61147243C>T Copied from the Exome Variant Server REL_000040 2/13006 2/8600 0/4406 - - - - - - -
?/? c.922+18C>T r.(=) p.(=) g.61147262C>T Copied from the Exome Variant Server REL_000043 4/13006 1/8600 3/4406 - - - - - - -
?/? c.923-38_923-37del r.(=) p.(=) g.61147480_61147481del Copied from the Exome Variant Server REL_000045 53/7532 46/5060 7/2472 - - - - - - -
?/? c.972_973del r.(?) p.(Ser325Argfs*2) g.61147567_61147568del Copied from the Exome Variant Server REL_000047 51/10640 36/7182 15/3458 - - - - - - -
?/? c.975_976del r.(?) p.(Gly326*) g.61147570_61147571del Copied from the Exome Variant Server REL_000049 66/10706 42/7220 24/3486 - - - - - - -
?/? c.976_977del r.(?) p.(Gly326*) g.61147571_61147572del Copied from the Exome Variant Server REL_000050 56/10754 34/7244 22/3510 - - - - - - -
?/? c.1019-45A>T r.(=) p.(=) g.61147664A>T Copied from the Exome Variant Server REL_000051 1/12978 1/8592 0/4386 - - - - - - -
?/? c.1019-24A>C r.(=) p.(=) g.61147685A>C Copied from the Exome Variant Server REL_000052 3/12992 3/8588 0/4404 - - - - - - -
?/? c.1034G>A r.(?) p.(Arg345Lys) g.61147724G>A Copied from the Exome Variant Server REL_000053 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1088-7C>A r.(=) p.(=) g.61148891C>A Copied from the Exome Variant Server REL_000054 48/13004 44/8600 4/4404 - - - - - - -
?/? c.1100T>G r.(?) p.(Phe367Cys) g.61148910T>G Copied from the Exome Variant Server REL_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1130C>G r.(?) p.(Pro377Arg) g.61148940C>G Copied from the Exome Variant Server REL_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1131T>C r.(=) p.(=) g.61148941T>C Copied from the Exome Variant Server REL_000057 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1133C>T r.(?) p.(Thr378Ile) g.61148943C>T Copied from the Exome Variant Server REL_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1160A>G r.(?) p.(Tyr387Cys) g.61148970A>G Copied from the Exome Variant Server REL_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1161C>T r.(=) p.(=) g.61148971C>T Copied from the Exome Variant Server REL_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1163A>G r.(?) p.(Tyr388Cys) g.61148973A>G Copied from the Exome Variant Server REL_000061 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1178C>G r.(?) p.(Pro393Arg) g.61148988C>G Copied from the Exome Variant Server REL_000062 94/13006 1/8600 93/4406 - - - - - - -
?/? c.1210A>G r.(?) p.(Met404Val) g.61149020A>G Copied from the Exome Variant Server REL_000063 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1220T>C r.(?) p.(Leu407Pro) g.61149030T>C Copied from the Exome Variant Server REL_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1222C>T r.(?) p.(Pro408Ser) g.61149032C>T Copied from the Exome Variant Server REL_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1233C>G r.(?) p.(Ser411Arg) g.61149043C>G Copied from the Exome Variant Server REL_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1271A>G r.(?) p.(Asn424Ser) g.61149081A>G Copied from the Exome Variant Server REL_000067 4/13006 2/8600 2/4406 - - - - - - -
?/? c.1320G>A r.(=) p.(=) g.61149130G>A Copied from the Exome Variant Server REL_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1390A>C r.(?) p.(Asn464His) g.61149200A>C Copied from the Exome Variant Server REL_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1398C>T r.(=) p.(=) g.61149208C>T Copied from the Exome Variant Server REL_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1399G>A r.(?) p.(Asp467Asn) g.61149209G>A Copied from the Exome Variant Server REL_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1401T>C r.(=) p.(=) g.61149211T>C Copied from the Exome Variant Server REL_000072 29/13006 0/8600 29/4406 - - - - - - -
?/? c.1410C>T r.(=) p.(=) g.61149220C>T Copied from the Exome Variant Server REL_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1422G>A r.(=) p.(=) g.61149232G>A Copied from the Exome Variant Server REL_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1442_1447del r.(?) p.(Leu482_Tyr483del) g.61149252_61149257del Copied from the Exome Variant Server REL_000075 3/12520 3/8254 0/4266 - - - - - - -
?/? c.1448A>G r.(?) p.(Tyr483Cys) g.61149258A>G Copied from the Exome Variant Server REL_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1462C>G r.(?) p.(Pro488Ala) g.61149272C>G Copied from the Exome Variant Server REL_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1559A>G r.(?) p.(Glu520Gly) g.61149369A>G Copied from the Exome Variant Server REL_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1605G>C r.(?) p.(Gln535His) g.61149415G>C Copied from the Exome Variant Server REL_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1652A>G r.(?) p.(Asn551Ser) g.61149462A>G Copied from the Exome Variant Server REL_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1659T>A r.(=) p.(=) g.61149469T>A Copied from the Exome Variant Server REL_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1669T>C r.(?) p.(Ser557Pro) g.61149479T>C Copied from the Exome Variant Server REL_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1674A>G r.(=) p.(=) g.61149484A>G Copied from the Exome Variant Server REL_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1728T>C r.(=) p.(=) g.61149538T>C Copied from the Exome Variant Server REL_000085 83/13006 0/8600 83/4406 - - - - - - -
?/? c.1734G>A r.(=) p.(=) g.61149544G>A Copied from the Exome Variant Server REL_000086 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1742C>T r.(?) p.(Ser581Leu) g.61149552C>T Copied from the Exome Variant Server REL_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1769G>A r.(?) p.(Gly590Asp) g.61149579G>A Copied from the Exome Variant Server REL_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1805G>A r.(?) p.(Ser602Asn) g.61149615G>A Copied from the Exome Variant Server REL_000089 3/13006 0/8600 3/4406 - - - - - - -
?/? c.*40A>G r.(=) p.(=) g.61149710A>G Copied from the Exome Variant Server REL_000081 3/12214 3/8084 0/4130 - - - - - - -
Legend