Full data view for gene NMD3

Information The variants shown are described using the NM_015938.3 transcript reference sequence.

109 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.-20-50_-20-49insATCCCAAC r.(=) p.(=) g.160939732_160939733insATCCCAAC Copied from the Exome Variant Server NMD3_000001 5553/12138 3424/8024 2129/4114 - - - - - - -
?/? c.-20-38_-20-37insCAACAT r.(=) p.(=) g.160939744_160939745insCAACAT Copied from the Exome Variant Server NMD3_000002 3849/12266 2427/8094 1422/4172 - - - - - - -
?/? c.-20-24_-20-5del N/A N/A g.160939758_160939777del Copied from the Exome Variant Server NMD3_000003 1106/12194 623/8074 483/4120 - - - - - - -
?/? c.-20-19_-20-5del N/A N/A g.160939763_160939777del Copied from the Exome Variant Server NMD3_000004 1917/11634 1190/7716 727/3918 - - - - - - -
?/? c.-20-18_-20-5del N/A N/A g.160939764_160939777del Copied from the Exome Variant Server NMD3_000005 2013/11854 1248/7836 765/4018 - - - - - - -
?/? c.-20-6T>A r.(=) p.(=) g.160939776T>A Copied from the Exome Variant Server NMD3_000006 235/13006 137/8600 98/4406 - - - - - - -
?/? c.19T>C r.(?) p.(Ser7Pro) g.160939820T>C Copied from the Exome Variant Server NMD3_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.25G>T r.(?) p.(Asp9Tyr) g.160939826G>T Copied from the Exome Variant Server NMD3_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.31A>C r.(?) p.(Ser11Arg) g.160939832A>C Copied from the Exome Variant Server NMD3_000009 5/13006 5/8600 0/4406 - - - - - - -
?/? c.44+20C>T r.(=) p.(=) g.160939865C>T Copied from the Exome Variant Server NMD3_000010 92/13006 0/8600 92/4406 - - - - - - -
?/? c.44+25C>T r.(=) p.(=) g.160939870C>T Copied from the Exome Variant Server NMD3_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.44+47G>C r.(=) p.(=) g.160939892G>C Copied from the Exome Variant Server NMD3_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.44+52C>A r.(=) p.(=) g.160939897C>A Copied from the Exome Variant Server NMD3_000014 1/7272 1/4618 0/2654 - - - - - - -
?/? c.45-51T>C r.(=) p.(=) g.160942667T>C Copied from the Exome Variant Server NMD3_000016 910/12990 312/8594 598/4396 - - - - - - -
?/? c.45-20T>G r.(=) p.(=) g.160942698T>G Copied from the Exome Variant Server NMD3_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.70A>G r.(?) p.(Ile24Val) g.160942743A>G Copied from the Exome Variant Server NMD3_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.89A>G r.(?) p.(Asn30Ser) g.160942762A>G Copied from the Exome Variant Server NMD3_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.100G>A r.(?) p.(Ala34Thr) g.160942773G>A Copied from the Exome Variant Server NMD3_000024 2/13006 0/8600 2/4406 - - - - - - -
?/? c.110G>A r.(?) p.(Arg37Gln) g.160942783G>A Copied from the Exome Variant Server NMD3_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.123C>G r.(?) p.(Asp41Glu) g.160942796C>G Copied from the Exome Variant Server NMD3_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? c.169C>G r.(?) p.(Gln57Glu) g.160942842C>G Copied from the Exome Variant Server NMD3_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.179+6G>A r.(=) p.(=) g.160942858G>A Copied from the Exome Variant Server NMD3_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.179+32A>T r.(=) p.(=) g.160942884A>T Copied from the Exome Variant Server NMD3_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.179+36G>A r.(=) p.(=) g.160942888G>A Copied from the Exome Variant Server NMD3_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.179+39A>G r.(=) p.(=) g.160942891A>G Copied from the Exome Variant Server NMD3_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.180-25T>A r.(=) p.(=) g.160945010T>A Copied from the Exome Variant Server NMD3_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.183T>C r.(=) p.(=) g.160945038T>C Copied from the Exome Variant Server NMD3_000015 3/13006 1/8600 2/4406 - - - - - - -
?/? c.199A>T r.(?) p.(Thr67Ser) g.160945054A>T Copied from the Exome Variant Server NMD3_000017 1/13004 0/8598 1/4406 - - - - - - -
?/? c.241T>C r.(=) p.(=) g.160945096T>C Copied from the Exome Variant Server NMD3_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.248T>G r.(?) p.(Leu83Trp) g.160945103T>G Copied from the Exome Variant Server NMD3_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.263C>T r.(?) p.(Ala88Val) g.160945118C>T Copied from the Exome Variant Server NMD3_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.264C>T r.(=) p.(=) g.160945119C>T Copied from the Exome Variant Server NMD3_000025 2/13006 2/8600 0/4406 - - - - - - -
?/? c.276+14C>T r.(=) p.(=) g.160945145C>T Copied from the Exome Variant Server NMD3_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.276+36T>C r.(=) p.(=) g.160945167T>C Copied from the Exome Variant Server NMD3_000029 55/13004 1/8598 54/4406 - - - - - - -
?/? c.277-51T>C r.(=) p.(=) g.160951136T>C Copied from the Exome Variant Server NMD3_000031 1/13004 1/8598 0/4406 - - - - - - -
?/? c.277-41G>C r.(=) p.(=) g.160951146G>C Copied from the Exome Variant Server NMD3_000033 1/13004 1/8598 0/4406 - - - - - - -
?/? c.277-31_277-30insA r.(=) p.(=) g.160951156_160951157insA Copied from the Exome Variant Server NMD3_000035 2/12520 1/8254 1/4266 - - - - - - -
?/? c.277-29C>T r.(=) p.(=) g.160951158C>T Copied from the Exome Variant Server NMD3_000037 2/13006 1/8600 1/4406 - - - - - - -
?/? c.281G>A r.(?) p.(Arg94Gln) g.160951191G>A Copied from the Exome Variant Server NMD3_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.337A>G r.(?) p.(Lys113Glu) g.160951247A>G Copied from the Exome Variant Server NMD3_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.357+12A>G r.(=) p.(=) g.160951279A>G Copied from the Exome Variant Server NMD3_000041 135/13006 118/8600 17/4406 - - - - - - -
?/? c.358-33C>G r.(=) p.(=) g.160952482C>G Copied from the Exome Variant Server NMD3_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.358-26A>G r.(=) p.(=) g.160952489A>G Copied from the Exome Variant Server NMD3_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.381A>T r.(?) p.(Gln127His) g.160952538A>T Copied from the Exome Variant Server NMD3_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.465T>C r.(=) p.(=) g.160952622T>C Copied from the Exome Variant Server NMD3_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.486+43C>T r.(=) p.(=) g.160952686C>T Copied from the Exome Variant Server NMD3_000046 7/13006 7/8600 0/4406 - - - - - - -
?/? c.490T>G r.(?) p.(Leu164Val) g.160952913T>G Copied from the Exome Variant Server NMD3_000047 1/12870 1/8540 0/4330 - - - - - - -
?/? c.512A>G r.(?) p.(Tyr171Cys) g.160952935A>G Copied from the Exome Variant Server NMD3_000048 1/12924 1/8544 0/4380 - - - - - - -
?/? c.578-34A>G r.(=) p.(=) g.160955867A>G Copied from the Exome Variant Server NMD3_000049 1/12920 0/8570 1/4350 - - - - - - -
?/? c.578-22G>T r.(=) p.(=) g.160955879G>T Copied from the Exome Variant Server NMD3_000050 7519/12976 4349/8586 3170/4390 - - - - - - -
?/? c.606A>G r.(=) p.(=) g.160955929A>G Copied from the Exome Variant Server NMD3_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.615T>C r.(=) p.(=) g.160955938T>C Copied from the Exome Variant Server NMD3_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.649C>G r.(?) p.(Pro217Ala) g.160955972C>G Copied from the Exome Variant Server NMD3_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.656+49_656+50del r.(=) p.(=) g.160956028_160956029del Copied from the Exome Variant Server NMD3_000054 1/12510 0/8246 1/4264 - - - - - - -
?/? c.656+52C>T r.(=) p.(=) g.160956031C>T Copied from the Exome Variant Server NMD3_000055 37/7272 0/4618 37/2654 - - - - - - -
?/? c.687A>G r.(=) p.(=) g.160956548A>G Copied from the Exome Variant Server NMD3_000056 346/12996 298/8594 48/4402 - - - - - - -
?/? c.754-30C>G r.(=) p.(=) g.160958804C>G Copied from the Exome Variant Server NMD3_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.754-22A>C r.(=) p.(=) g.160958812A>C Copied from the Exome Variant Server NMD3_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.754-11C>T r.(=) p.(=) g.160958823C>T Copied from the Exome Variant Server NMD3_000059 2/13006 2/8600 0/4406 - - - - - - -
?/? c.802A>G r.(?) p.(Met268Val) g.160958882A>G Copied from the Exome Variant Server NMD3_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.804G>C r.(?) p.(Met268Ile) g.160958884G>C Copied from the Exome Variant Server NMD3_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.812del r.(?) p.(Cys272Valfs*6) g.160958892del Copied from the Exome Variant Server NMD3_000062 1/12518 1/8252 0/4266 - - - - - - -
?/? c.836G>T r.(?) p.(Ser279Ile) g.160958916G>T Copied from the Exome Variant Server NMD3_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.842T>A r.(?) p.(Ile281Asn) g.160958922T>A Copied from the Exome Variant Server NMD3_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.849C>T r.(=) p.(=) g.160958929C>T Copied from the Exome Variant Server NMD3_000065 3/13006 3/8600 0/4406 - - - - - - -
?/? c.868C>G r.(?) p.(Gln290Glu) g.160958948C>G Copied from the Exome Variant Server NMD3_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.871+20T>C r.(=) p.(=) g.160958971T>C Copied from the Exome Variant Server NMD3_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.871+45A>T r.(=) p.(=) g.160958996A>T Copied from the Exome Variant Server NMD3_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.871+51_871+53del r.(=) p.(=) g.160959002_160959004del Copied from the Exome Variant Server NMD3_000071 55/12518 1/8252 54/4266 - - - - - - -
?/? c.872-13T>C r.(=) p.(=) g.160960283T>C Copied from the Exome Variant Server NMD3_000073 344/13006 297/8600 47/4406 - - - - - - -
?/? c.897C>A r.(?) p.(Phe299Leu) g.160960321C>A Copied from the Exome Variant Server NMD3_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.977A>T r.(?) p.(Asp326Val) g.160960401A>T Copied from the Exome Variant Server NMD3_000077 4/13006 4/8600 0/4406 - - - - - - -
?/? c.991G>T r.(?) p.(Ala331Ser) g.160960415G>T Copied from the Exome Variant Server NMD3_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1017+5G>A r.spl? p.? g.160960446G>A Copied from the Exome Variant Server NMD3_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1018-38T>C r.(=) p.(=) g.160964086T>C Copied from the Exome Variant Server NMD3_000083 1/13000 1/8594 0/4406 - - - - - - -
?/? c.1027G>A r.(?) p.(Gly343Arg) g.160964133G>A Copied from the Exome Variant Server NMD3_000068 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1107A>G r.(=) p.(=) g.160964213A>G Copied from the Exome Variant Server NMD3_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1117G>C r.(?) p.(Asp373His) g.160964223G>C Copied from the Exome Variant Server NMD3_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1130+30A>T r.(=) p.(=) g.160964266A>T Copied from the Exome Variant Server NMD3_000074 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1130+35G>A r.(=) p.(=) g.160964271G>A Copied from the Exome Variant Server NMD3_000076 3814/13004 2659/8598 1155/4406 - - - - - - -
?/? c.1130+40G>A r.(=) p.(=) g.160964276G>A Copied from the Exome Variant Server NMD3_000078 2/13004 2/8598 0/4406 - - - - - - -
?/? c.1171A>G r.(?) p.(Asn391Asp) g.160965086A>G Copied from the Exome Variant Server NMD3_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1187A>G r.(?) p.(Asp396Gly) g.160965102A>G Copied from the Exome Variant Server NMD3_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1203+21C>G r.(=) p.(=) g.160965139C>G Copied from the Exome Variant Server NMD3_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1229G>A r.(?) p.(Arg410Gln) g.160967267G>A Copied from the Exome Variant Server NMD3_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1236A>T r.(?) p.(Lys412Asn) g.160967274A>T Copied from the Exome Variant Server NMD3_000086 72/13006 0/8600 72/4406 - - - - - - -
?/? c.1244G>A r.(?) p.(Arg415His) g.160967282G>A Copied from the Exome Variant Server NMD3_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1274C>T r.(?) p.(Ala425Val) g.160967312C>T Copied from the Exome Variant Server NMD3_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1278A>T r.(?) p.(Arg426Ser) g.160967316A>T Copied from the Exome Variant Server NMD3_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1291A>C r.(?) p.(Met431Leu) g.160967329A>C Copied from the Exome Variant Server NMD3_000094 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1294G>C r.(?) p.(Asp432His) g.160967332G>C Copied from the Exome Variant Server NMD3_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1310+6G>A r.(=) p.(=) g.160967354G>A Copied from the Exome Variant Server NMD3_000098 6288/13006 3842/8600 2446/4406 - - - - - - -
?/? c.1310+28T>C r.(=) p.(=) g.160967376T>C Copied from the Exome Variant Server NMD3_000099 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1311-46_1311-41del r.(=) p.(=) g.160967998_160968003del Copied from the Exome Variant Server NMD3_000101 11/12430 9/8200 2/4230 - - - - - - -
?/? c.1351G>A r.(?) p.(Ala451Thr) g.160968084G>A Copied from the Exome Variant Server NMD3_000104 36/12998 0/8592 36/4406 - - - - - - -
?/? c.1381+9T>C r.(=) p.(=) g.160968123T>C Copied from the Exome Variant Server NMD3_000105 1/12992 0/8586 1/4406 - - - - - - -
?/? c.1381+46A>G r.(=) p.(=) g.160968160A>G Copied from the Exome Variant Server NMD3_000106 2/12986 2/8582 0/4404 - - - - - - -
?/? c.1381+50T>C r.(=) p.(=) g.160968164T>C Copied from the Exome Variant Server NMD3_000107 8/12988 6/8584 2/4404 - - - - - - -
?/? c.1381+55A>G r.(=) p.(=) g.160968169A>G Copied from the Exome Variant Server NMD3_000108 7/4558 0/3174 7/1384 - - - - - - -
?/? c.1382-43A>G r.(=) p.(=) g.160968525A>G Copied from the Exome Variant Server NMD3_000109 3/12772 2/8452 1/4320 - - - - - - -
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