Full data view for gene MRS2

Information The variants shown are described using the NM_020662.2 transcript reference sequence.

123 entries on 2 pages. Showing entries 1 - 100.
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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.-52T>G r.(=) p.(=) g.24403223T>G Copied from the Exome Variant Server MRS2_000001 1/5734 1/3982 0/1752 - - - - - - -
?/? c.-47C>T r.(=) p.(=) g.24403228C>T Copied from the Exome Variant Server MRS2_000002 1/13002 1/8598 0/4404 - - - - - - -
?/? c.-37T>A r.(=) p.(=) g.24403238T>A Copied from the Exome Variant Server MRS2_000003 1/13002 1/8596 0/4406 - - - - - - -
?/? c.-35G>C r.(=) p.(=) g.24403240G>C Copied from the Exome Variant Server MRS2_000004 13/13006 11/8600 2/4406 - - - - - - -
?/? c.-16T>C r.(=) p.(=) g.24403259T>C Copied from the Exome Variant Server MRS2_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1A>G r.? p.? g.24403275A>G Copied from the Exome Variant Server MRS2_000006 8/13006 7/8600 1/4406 - - - - - - -
?/? c.8G>A r.(?) p.(Cys3Tyr) g.24403282G>A Copied from the Exome Variant Server MRS2_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.11T>C r.(?) p.(Leu4Pro) g.24403285T>C Copied from the Exome Variant Server MRS2_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.24C>G r.(=) p.(=) g.24403298C>G Copied from the Exome Variant Server MRS2_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.37C>T r.(?) p.(Arg13Cys) g.24403311C>T Copied from the Exome Variant Server MRS2_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.55C>T r.(?) p.(Arg19Trp) g.24403329C>T Copied from the Exome Variant Server MRS2_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.58C>T r.(?) p.(Arg20Trp) g.24403332C>T Copied from the Exome Variant Server MRS2_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.103C>T r.(?) p.(Pro35Ser) g.24403377C>T Copied from the Exome Variant Server MRS2_000013 325/13004 72/8598 253/4406 - - - - - - -
?/? c.105C>T r.(=) p.(=) g.24403379C>T Copied from the Exome Variant Server MRS2_000014 2/13004 2/8598 0/4406 - - - - - - -
?/? c.110C>G r.(?) p.(Ala37Gly) g.24403384C>G Copied from the Exome Variant Server MRS2_000016 1/13002 1/8598 0/4404 - - - - - - -
?/? c.137T>C r.(?) p.(Ile46Thr) g.24403411T>C Copied from the Exome Variant Server MRS2_000017 357/12980 302/8586 55/4394 - - - - - - -
?/? c.160C>G r.(?) p.(Leu54Val) g.24403434C>G Copied from the Exome Variant Server MRS2_000019 1/12988 0/8594 1/4394 - - - - - - -
?/? c.170C>T r.(?) p.(Pro57Leu) g.24403444C>T Copied from the Exome Variant Server MRS2_000021 1/12984 1/8588 0/4396 - - - - - - -
?/? c.181C>T r.(?) p.(Arg61Cys) g.24403455C>T Copied from the Exome Variant Server MRS2_000023 1359/12980 1230/8586 129/4394 - - - - - - -
?/? c.191-51A>G r.(=) p.(=) g.24405345A>G Copied from the Exome Variant Server MRS2_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.191-39A>G r.(=) p.(=) g.24405357A>G Copied from the Exome Variant Server MRS2_000027 1363/13006 1231/8600 132/4406 - - - - - - -
?/? c.193G>A r.(?) p.(Glu65Lys) g.24405398G>A Copied from the Exome Variant Server MRS2_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.199C>T r.(?) p.(His67Tyr) g.24405404C>T Copied from the Exome Variant Server MRS2_000032 3/13006 3/8600 0/4406 - - - - - - -
?/? c.219C>T r.(=) p.(=) g.24405424C>T Copied from the Exome Variant Server MRS2_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.231C>A r.(=) p.(=) g.24405436C>A Copied from the Exome Variant Server MRS2_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.243T>C r.(=) p.(=) g.24405448T>C Copied from the Exome Variant Server MRS2_000020 2/13006 0/8600 2/4406 - - - - - - -
?/? c.250C>T r.(?) p.(Pro84Ser) g.24405455C>T Copied from the Exome Variant Server MRS2_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.264+1G>T r.spl? p.? g.24405470G>T Copied from the Exome Variant Server MRS2_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.264+50A>G r.(=) p.(=) g.24405519A>G Copied from the Exome Variant Server MRS2_000026 3/13006 3/8600 0/4406 - - - - - - -
?/? c.265-31A>G r.(=) p.(=) g.24408605A>G Copied from the Exome Variant Server MRS2_000028 1/12894 1/8522 0/4372 - - - - - - -
?/? c.265-10C>T r.(=) p.(=) g.24408626C>T Copied from the Exome Variant Server MRS2_000029 1/12938 1/8550 0/4388 - - - - - - -
?/? c.288C>T r.(=) p.(=) g.24408659C>T Copied from the Exome Variant Server MRS2_000031 7/12982 1/8584 6/4398 - - - - - - -
?/? c.301+29T>C r.(=) p.(=) g.24408701T>C Copied from the Exome Variant Server MRS2_000033 1/12966 1/8578 0/4388 - - - - - - -
?/? c.301+36T>C r.(=) p.(=) g.24408708T>C Copied from the Exome Variant Server MRS2_000034 6/12950 3/8568 3/4382 - - - - - - -
?/? c.301+38T>C r.(=) p.(=) g.24408710T>C Copied from the Exome Variant Server MRS2_000035 1/12940 1/8558 0/4382 - - - - - - -
?/? c.301+40A>G r.(=) p.(=) g.24408712A>G Copied from the Exome Variant Server MRS2_000036 12/12936 0/8554 12/4382 - - - - - - -
?/? c.301+45_301+50del r.(=) p.(=) g.24408717_24408722del Copied from the Exome Variant Server MRS2_000038 3/12440 3/8206 0/4234 - - - - - - -
?/? c.302-47C>T r.(=) p.(=) g.24409642C>T Copied from the Exome Variant Server MRS2_000040 1/12982 1/8590 0/4392 - - - - - - -
?/? c.302-13A>G r.(=) p.(=) g.24409676A>G Copied from the Exome Variant Server MRS2_000042 1/12988 0/8586 1/4402 - - - - - - -
?/? c.341A>C r.(?) p.(Gln114Pro) g.24409728A>C Copied from the Exome Variant Server MRS2_000044 1/13004 0/8598 1/4406 - - - - - - -
?/? c.414+1G>A r.spl? p.? g.24409802G>A Copied from the Exome Variant Server MRS2_000046 1/13002 0/8596 1/4406 - - - - - - -
?/? c.414+18C>T r.(=) p.(=) g.24409819C>T Copied from the Exome Variant Server MRS2_000048 2/12998 1/8592 1/4406 - - - - - - -
?/? c.414+23A>G r.(=) p.(=) g.24409824A>G Copied from the Exome Variant Server MRS2_000050 1/12996 1/8590 0/4406 - - - - - - -
?/? c.414+37C>T r.(=) p.(=) g.24409838C>T Copied from the Exome Variant Server MRS2_000052 1/12974 1/8578 0/4396 - - - - - - -
?/? c.414+41_414+42insTT r.(=) p.(=) g.24409842_24409843insTT Copied from the Exome Variant Server MRS2_000054 7/12466 6/8218 1/4248 - - - - - - -
?/? c.414+45T>C r.(=) p.(=) g.24409846T>C Copied from the Exome Variant Server MRS2_000056 615/12960 18/8568 597/4392 - - - - - - -
?/? c.415-18del r.(=) p.(=) g.24412432del Copied from the Exome Variant Server MRS2_000060 627/12498 402/8246 225/4252 - - - - - - -
?/? c.415-18dup r.(=) p.(=) g.24412432dup Copied from the Exome Variant Server MRS2_000058 1719/12498 958/8246 761/4252 - - - - - - -
?/? c.415-18_415-17insTT r.(=) p.(=) g.24412432_24412433insTT Copied from the Exome Variant Server MRS2_000039 1021/12498 863/8246 158/4252 - - - - - - -
?/? c.415-18_415-17insTTT r.(=) p.(=) g.24412432_24412433insTTT Copied from the Exome Variant Server MRS2_000037 87/12498 66/8246 21/4252 - - - - - - -
?/? c.415-6_415-5insA r.spl? p.? g.24412444_24412445insA Copied from the Exome Variant Server MRS2_000041 11/12506 5/8252 6/4254 - - - - - - -
?/? c.417T>G r.(?) p.(Tyr139*) g.24412452T>G Copied from the Exome Variant Server MRS2_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.495G>T r.(=) p.(=) g.24412530G>T Copied from the Exome Variant Server MRS2_000045 337/13006 72/8600 265/4406 - - - - - - -
?/? c.519A>T r.(=) p.(=) g.24412554A>T Copied from the Exome Variant Server MRS2_000047 11/13006 1/8600 10/4406 - - - - - - -
?/? c.531C>T r.(=) p.(=) g.24412566C>T Copied from the Exome Variant Server MRS2_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.532G>A r.(?) p.(Val178Ile) g.24412567G>A Copied from the Exome Variant Server MRS2_000051 7/13006 7/8600 0/4406 - - - - - - -
?/? c.542C>G r.(?) p.(Pro181Arg) g.24412577C>G Copied from the Exome Variant Server MRS2_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.547C>T r.(?) p.(Pro183Ser) g.24412582C>T Copied from the Exome Variant Server MRS2_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.589-22G>A r.(=) p.(=) g.24415239G>A Copied from the Exome Variant Server MRS2_000057 25/13006 0/8600 25/4406 - - - - - - -
?/? c.589-5T>C r.spl? p.? g.24415256T>C Copied from the Exome Variant Server MRS2_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.598C>T r.(?) p.(Leu200Phe) g.24415270C>T Copied from the Exome Variant Server MRS2_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.632T>A r.(?) p.(Ile211Asn) g.24415304T>A Copied from the Exome Variant Server MRS2_000062 2/13006 1/8600 1/4406 - - - - - - -
?/? c.639G>C r.(?) p.(Glu213Asp) g.24415311G>C Copied from the Exome Variant Server MRS2_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.651T>G r.(=) p.(=) g.24415323T>G Copied from the Exome Variant Server MRS2_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.655G>A r.(?) p.(Val219Met) g.24415327G>A Copied from the Exome Variant Server MRS2_000065 2/13006 0/8600 2/4406 - - - - - - -
?/? c.663C>T r.(=) p.(=) g.24415335C>T Copied from the Exome Variant Server MRS2_000066 2/13006 0/8600 2/4406 - - - - - - -
?/? c.668_669insT r.(?) p.(Ser224Phefs*26) g.24415340_24415341insT Copied from the Exome Variant Server MRS2_000067 2/12516 2/8254 0/4262 - - - - - - -
?/? c.671C>A r.(?) p.(Ser224Tyr) g.24415343C>A Copied from the Exome Variant Server MRS2_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.675T>C r.(=) p.(=) g.24415347T>C Copied from the Exome Variant Server MRS2_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.708G>A r.(=) p.(=) g.24415380G>A Copied from the Exome Variant Server MRS2_000070 696/13006 639/8600 57/4406 - - - - - - -
?/? c.720-45A>G r.(=) p.(=) g.24416580A>G Copied from the Exome Variant Server MRS2_000071 11/12664 0/8452 11/4212 - - - - - - -
?/? c.720-32A>G r.(=) p.(=) g.24416593A>G Copied from the Exome Variant Server MRS2_000072 1331/12816 1210/8530 121/4286 - - - - - - -
?/? c.720-14_720-13del r.(=) p.(=) g.24416611_24416612del Copied from the Exome Variant Server MRS2_000073 22/12436 13/8222 9/4214 - - - - - - -
?/? c.739G>C r.(?) p.(Asp247His) g.24416644G>C Copied from the Exome Variant Server MRS2_000074 1/12968 0/8570 1/4398 - - - - - - -
?/? c.836+9A>G r.(=) p.(=) g.24416750A>G Copied from the Exome Variant Server MRS2_000075 1/12986 1/8582 0/4404 - - - - - - -
?/? c.836+21T>C r.(=) p.(=) g.24416762T>C Copied from the Exome Variant Server MRS2_000076 1/12976 1/8574 0/4402 - - - - - - -
?/? c.836+23_836+26del r.(=) p.(=) g.24416764_24416767del Copied from the Exome Variant Server MRS2_000077 1/12484 0/8226 1/4258 - - - - - - -
?/? c.837-39T>C r.(=) p.(=) g.24418273T>C Copied from the Exome Variant Server MRS2_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.837-29A>G r.(=) p.(=) g.24418283A>G Copied from the Exome Variant Server MRS2_000079 12/13006 11/8600 1/4406 - - - - - - -
?/? c.837-19T>G r.(=) p.(=) g.24418293T>G Copied from the Exome Variant Server MRS2_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.873G>A r.(=) p.(=) g.24418348G>A Copied from the Exome Variant Server MRS2_000081 3926/13006 3334/8600 592/4406 - - - - - - -
?/? c.900C>T r.(=) p.(=) g.24418375C>T Copied from the Exome Variant Server MRS2_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.979A>G r.(?) p.(Asn327Asp) g.24418454A>G Copied from the Exome Variant Server MRS2_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.987C>T r.(=) p.(=) g.24418462C>T Copied from the Exome Variant Server MRS2_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.989+38A>C r.(=) p.(=) g.24418502A>C Copied from the Exome Variant Server MRS2_000085 3325/12692 1798/8432 1527/4260 - - - - - - -
?/? c.989+43_989+45del r.(=) p.(=) g.24418507_24418509del Copied from the Exome Variant Server MRS2_000086 399/11894 366/7916 33/3978 - - - - - - -
?/? c.989+48del r.(=) p.(=) g.24418512del Copied from the Exome Variant Server MRS2_000087 256/11840 17/7894 239/3946 - - - - - - -
?/? c.990-45_990-42del r.(=) p.(=) g.24418644_24418647del Copied from the Exome Variant Server MRS2_000088 10/12514 9/8252 1/4262 - - - - - - -
?/? c.990-11_990-9del r.(=) p.(=) g.24418678_24418680del Copied from the Exome Variant Server MRS2_000089 43/12514 25/8252 18/4262 - - - - - - -
?/? c.1000G>A r.(?) p.(Val334Met) g.24418699G>A Copied from the Exome Variant Server MRS2_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1029C>T r.(=) p.(=) g.24418728C>T Copied from the Exome Variant Server MRS2_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1031T>C r.(?) p.(Met344Thr) g.24418730T>C Copied from the Exome Variant Server MRS2_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1050G>A r.(=) p.(=) g.24418749G>A Copied from the Exome Variant Server MRS2_000093 53/13006 3/8600 50/4406 - - - - - - -
?/? c.1084A>G r.(?) p.(Asn362Asp) g.24418783A>G Copied from the Exome Variant Server MRS2_000095 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1087T>C r.(=) p.(=) g.24418786T>C Copied from the Exome Variant Server MRS2_000097 1404/13006 1234/8600 170/4406 - - - - - - -
?/? c.1107+29_1107+30insG r.(=) p.(=) g.24418835_24418836insG Copied from the Exome Variant Server MRS2_000099 1341/12516 1179/8254 162/4262 - - - - - - -
?/? c.1107+45G>A r.(=) p.(=) g.24418851G>A Copied from the Exome Variant Server MRS2_000101 1/13000 1/8600 0/4400 - - - - - - -
?/? c.1107+47A>T r.(=) p.(=) g.24418853A>T Copied from the Exome Variant Server MRS2_000103 23/13000 23/8600 0/4400 - - - - - - -
?/? c.1107+48T>C r.(=) p.(=) g.24418854T>C Copied from the Exome Variant Server MRS2_000094 1350/13000 1222/8600 128/4400 - - - - - - -
?/? c.1108-45G>A r.(=) p.(=) g.24423120G>A Copied from the Exome Variant Server MRS2_000096 1/13006 1/8600 0/4406 - - - - - - -
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