All transcript variants in gene MMD2

Information The variants shown are described using the NM_198403.3 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-69_-67del r.(=) p.(=) g.4998715_4998717del Copied from the Exome Variant Server MMD2_000072 16/5818 11/4128 5/1690
?/? c.33G>T r.(?) p.(Lys11Asn) g.4998616C>A Copied from the Exome Variant Server MMD2_000071 3/10162 0/7158 3/3004
?/? c.47+20G>A r.(=) p.(=) g.4998582C>T Copied from the Exome Variant Server MMD2_000070 8/7988 8/5726 0/2262
?/? c.48-32G>A r.(=) p.(=) g.4965195C>T Copied from the Exome Variant Server MMD2_000069 1492/12180 1292/8274 200/3906
?/? c.66C>T r.(=) p.(=) g.4965145G>A Copied from the Exome Variant Server MMD2_000068 3/12174 3/8276 0/3898
?/? c.105T>C r.(=) p.(=) g.4965106A>G Copied from the Exome Variant Server MMD2_000067 1/12162 1/8268 0/3894
?/? c.125A>G r.(?) p.(His42Arg) g.4965086T>C Copied from the Exome Variant Server MMD2_000066 1/12094 1/8252 0/3842
?/? c.152T>C r.(?) p.(Leu51Pro) g.4959940A>G Copied from the Exome Variant Server MMD2_000065 1/12706 1/8464 0/4242
?/? c.171C>T r.(=) p.(=) g.4959921G>A Copied from the Exome Variant Server MMD2_000064 1/12692 1/8456 0/4236
?/? c.179C>T r.(?) p.(Ser60Leu) g.4959913G>A Copied from the Exome Variant Server MMD2_000063 1/12684 1/8452 0/4232
?/? c.183C>T r.(=) p.(=) g.4959909G>A Copied from the Exome Variant Server MMD2_000062 22/12688 1/8456 21/4232
?/? c.203C>G r.(?) p.(Ser68Cys) g.4959889G>C Copied from the Exome Variant Server MMD2_000061 1/12620 0/8430 1/4190
?/? c.216C>T r.(=) p.(=) g.4959876G>A Copied from the Exome Variant Server MMD2_000060 12/12546 12/8388 0/4158
?/? c.232G>A r.(?) p.(Gly78Ser) g.4959860C>T Copied from the Exome Variant Server MMD2_000059 1/12370 0/8320 1/4050
?/? c.241G>A r.(?) p.(Val81Met) g.4959851C>T Copied from the Exome Variant Server MMD2_000058 1/12326 1/8310 0/4016
?/? c.271T>C r.(?) p.(Trp91Arg) g.4959821A>G Copied from the Exome Variant Server MMD2_000057 1/12116 1/8230 0/3886
?/? c.285C>T r.(=) p.(=) g.4959807G>A Copied from the Exome Variant Server MMD2_000056 5494/12006 3359/8180 2135/3826
?/? c.290+13C>T r.(=) p.(=) g.4959789G>A Copied from the Exome Variant Server MMD2_000055 5273/11694 3228/8032 2045/3662
?/? c.290+30G>A r.(=) p.(=) g.4959772C>T Copied from the Exome Variant Server MMD2_000054 1/11370 1/7856 0/3514
?/? c.291-19G>A r.(=) p.(=) g.4955729C>T Copied from the Exome Variant Server MMD2_000053 1/12092 1/8252 0/3840
?/? c.291-7G>A r.(=) p.(=) g.4955717C>T Copied from the Exome Variant Server MMD2_000052 40/12112 0/8258 40/3854
?/? c.295G>T r.(?) p.(Val99Leu) g.4955706C>A Copied from the Exome Variant Server MMD2_000051 3/12118 2/8258 1/3860
?/? c.319G>T r.(?) p.(Asp107Tyr) g.4955682C>A Copied from the Exome Variant Server MMD2_000050 2/12106 2/8260 0/3846
?/? c.322C>A r.(=) p.(=) g.4955679G>T Copied from the Exome Variant Server MMD2_000049 2/12094 0/8252 2/3842
?/? c.348G>A r.(=) p.(=) g.4955653C>T Copied from the Exome Variant Server MMD2_000048 12/11984 8/8222 4/3762
?/? c.365+3G>A r.spl? p.? g.4955633C>T Copied from the Exome Variant Server MMD2_000047 1/11902 1/8190 0/3712
?/? c.365+9C>T r.(=) p.(=) g.4955627G>A Copied from the Exome Variant Server MMD2_000045 27/11876 1/8180 26/3696
?/? c.365+10G>A r.(=) p.(=) g.4955626C>T Copied from the Exome Variant Server MMD2_000043 5/11864 0/8174 5/3690
?/? c.365+15G>A r.(=) p.(=) g.4955621C>T Copied from the Exome Variant Server MMD2_000041 165/11828 2/8172 163/3656
?/? c.390C>G r.(=) p.(=) g.4950853G>C Copied from the Exome Variant Server MMD2_000039 163/12044 152/8228 11/3816
?/? c.406C>T r.(?) p.(Arg136Cys) g.4950837G>A Copied from the Exome Variant Server MMD2_000046 1/12094 1/8250 0/3844
?/? c.450C>T r.(=) p.(=) g.4950793G>A Copied from the Exome Variant Server MMD2_000044 8/12120 0/8258 8/3862
?/? c.468-120C>T r.(=) p.(=) g.4949701G>A Copied from the Exome Variant Server MMD2_000042 2/12394 1/8374 1/4020
?/? c.468-106A>T r.(=) p.(=) g.4949687T>A Copied from the Exome Variant Server MMD2_000040 1/12406 1/8372 0/4034
?/? c.468-105C>T r.(=) p.(=) g.4949686G>A Copied from the Exome Variant Server MMD2_000038 1/12404 1/8370 0/4034
?/? c.468-104T>C r.(=) p.(=) g.4949685A>G Copied from the Exome Variant Server MMD2_000037 1/12400 0/8370 1/4030
?/? c.468-103G>A r.(=) p.(=) g.4949684C>T Copied from the Exome Variant Server MMD2_000036 14/12396 12/8370 2/4026
?/? c.468-91G>C r.(=) p.(=) g.4949672C>G Copied from the Exome Variant Server MMD2_000035 2/12376 0/8368 2/4008
?/? c.468-84C>T r.(=) p.(=) g.4949665G>A Copied from the Exome Variant Server MMD2_000034 10/12334 0/8354 10/3980
?/? c.468-47C>T r.(=) p.(=) g.4949628G>A Copied from the Exome Variant Server MMD2_000033 1/12348 1/8360 0/3988
?/? c.468-25C>T r.(=) p.(=) g.4949606G>A Copied from the Exome Variant Server MMD2_000032 1/12368 0/8362 1/4006
?/? c.468-24C>T r.(=) p.(=) g.4949605G>A Copied from the Exome Variant Server MMD2_000031 2/12370 2/8358 0/4012
?/? c.468-12T>C r.(=) p.(=) g.4949593A>G Copied from the Exome Variant Server MMD2_000030 1/12414 0/8370 1/4044
?/? c.495C>T r.(=) p.(=) g.4949554G>A Copied from the Exome Variant Server MMD2_000029 5/12434 1/8364 4/4070
?/? c.496G>A r.(?) p.(Val166Ile) g.4949553C>T Copied from the Exome Variant Server MMD2_000028 5/12436 2/8368 3/4068
?/? c.517G>A r.(?) p.(Ala173Thr) g.4949532C>T Copied from the Exome Variant Server MMD2_000027 2/12446 2/8370 0/4076
?/? c.537+3A>G r.spl? p.? g.4949509T>C Copied from the Exome Variant Server MMD2_000026 1/12446 1/8362 0/4084
?/? c.537+16C>G r.(=) p.(=) g.4949496G>C Copied from the Exome Variant Server MMD2_000025 4/12454 0/8370 4/4084
?/? c.537+30T>A r.(=) p.(=) g.4949482A>T Copied from the Exome Variant Server MMD2_000024 1/12444 1/8362 0/4082
?/? c.538-52G>C r.(=) p.(=) g.4947282C>G Copied from the Exome Variant Server MMD2_000023 27/6816 0/4428 27/2388
?/? c.538-26T>C r.(=) p.(=) g.4947256A>G Copied from the Exome Variant Server MMD2_000022 1/12492 0/8392 1/4100
?/? c.538-17C>A r.(=) p.(=) g.4947247G>T Copied from the Exome Variant Server MMD2_000021 32/12466 0/8372 32/4094
?/? c.538-6C>T r.(=) p.(=) g.4947236G>A Copied from the Exome Variant Server MMD2_000020 4/12416 3/8358 1/4058
?/? c.538-5G>A r.spl? p.? g.4947235C>T Copied from the Exome Variant Server MMD2_000019 2/12410 0/8354 2/4056
?/? c.538C>G r.(?) p.(Pro180Ala) g.4947230G>C Copied from the Exome Variant Server MMD2_000018 1/12420 1/8358 0/4062
?/? c.571G>A r.(?) p.(Gly191Arg) g.4947197C>T Copied from the Exome Variant Server MMD2_000017 1/12344 1/8332 0/4012
?/? c.577G>T r.(?) p.(Val193Phe) g.4947191C>A Copied from the Exome Variant Server MMD2_000016 5/12362 0/8332 5/4030
?/? c.580T>G r.(?) p.(Phe194Val) g.4947188A>C Copied from the Exome Variant Server MMD2_000015 1/12370 0/8334 1/4036
?/? c.592G>T r.(?) p.(Gly198Cys) g.4947176C>A Copied from the Exome Variant Server MMD2_000014 1/12414 1/8360 0/4054
?/? c.636C>T r.(=) p.(=) g.4947132G>A Copied from the Exome Variant Server MMD2_000013 1/12474 1/8376 0/4098
?/? c.637G>A r.(?) p.(Ala213Thr) g.4947131C>T Copied from the Exome Variant Server MMD2_000012 1/12472 1/8376 0/4096
?/? c.644G>A r.(?) p.(Trp215*) g.4947124C>T Copied from the Exome Variant Server MMD2_000011 1/12454 1/8368 0/4086
?/? c.695G>A r.(?) p.(Arg232Lys) g.4947073C>T Copied from the Exome Variant Server MMD2_000010 1/12394 1/8344 0/4050
?/? c.698A>G r.(?) p.(Tyr233Cys) g.4947070T>C Copied from the Exome Variant Server MMD2_000009 1/12392 1/8344 0/4048
?/? c.*3T>C r.(=) p.(=) g.4947024A>G Copied from the Exome Variant Server MMD2_000008 14/12366 13/8344 1/4022
?/? c.*4G>C r.(=) p.(=) g.4947023C>G Copied from the Exome Variant Server MMD2_000007 1/12376 0/8352 1/4024
?/? c.*14T>C r.(=) p.(=) g.4947013A>G Copied from the Exome Variant Server MMD2_000006 501/12362 372/8346 129/4016
?/? c.*23G>A r.(=) p.(=) g.4947004C>T Copied from the Exome Variant Server MMD2_000005 1/12376 1/8350 0/4026
?/? c.*27G>T r.(=) p.(=) g.4947000C>A Copied from the Exome Variant Server MMD2_000004 4/12392 0/8354 4/4038
?/? c.*44C>G r.(=) p.(=) g.4946983G>C Copied from the Exome Variant Server MMD2_000003 508/12426 375/8358 133/4068
?/? c.*46C>T r.(=) p.(=) g.4946981G>A Copied from the Exome Variant Server MMD2_000002 78/12416 0/8354 78/4062
?/? c.*47G>A r.(=) p.(=) g.4946980C>T Copied from the Exome Variant Server MMD2_000001 1/12414 0/8356 1/4058
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