All transcript variants in gene MATR3

Information The variants shown are described using the NM_018834.5 transcript reference sequence.

105 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     
?/? c.-51_-50insA r.(=) p.(=) g.138643054_138643055insA Copied from the Exome Variant Server MATR3_000001 3207/11870 2616/7978 591/3892
?/? c.-43del r.(=) p.(=) g.138643062del Copied from the Exome Variant Server MATR3_000002 6072/11934 5155/8026 917/3908
?/? c.-43T>A r.(=) p.(=) g.138643062T>A Copied from the Exome Variant Server MATR3_000003 6843/12574 5703/8440 1140/4134
?/? c.-5C>G r.(=) p.(=) g.138643100C>G Copied from the Exome Variant Server MATR3_000004 1/13006 1/8600 0/4406
?/? c.291A>G r.(=) p.(=) g.138643395A>G Copied from the Exome Variant Server MATR3_000005 4/13006 4/8600 0/4406
?/? c.464C>A r.(?) p.(Thr155Asn) g.138643568C>A Copied from the Exome Variant Server MATR3_000006 1/13006 1/8600 0/4406
?/? c.499C>T r.(?) p.(Arg167Trp) g.138643603C>T Copied from the Exome Variant Server MATR3_000007 1/13006 0/8600 1/4406
?/? c.531T>C r.(=) p.(=) g.138643635T>C Copied from the Exome Variant Server MATR3_000008 1/13006 0/8600 1/4406
?/? c.552T>G r.(?) p.(Phe184Leu) g.138643656T>G Copied from the Exome Variant Server MATR3_000009 1/13006 0/8600 1/4406
?/? c.561T>G r.(?) p.(Asp187Glu) g.138643665T>G Copied from the Exome Variant Server MATR3_000010 1/13006 1/8600 0/4406
?/? c.592C>G r.(?) p.(Pro198Ala) g.138643696C>G Copied from the Exome Variant Server MATR3_000011 1/13006 1/8600 0/4406
?/? c.689G>T r.(?) p.(Cys230Phe) g.138643793G>T Copied from the Exome Variant Server MATR3_000012 1/13006 0/8600 1/4406
?/? c.767G>A r.(?) p.(Gly256Asp) g.138643871G>A Copied from the Exome Variant Server MATR3_000013 1/13006 1/8600 0/4406
?/? c.823A>G r.(?) p.(Ser275Gly) g.138643927A>G Copied from the Exome Variant Server MATR3_000014 1/13004 0/8600 1/4404
?/? c.912+9A>T r.(=) p.(=) g.138644025A>T Copied from the Exome Variant Server MATR3_000015 1/13004 1/8598 0/4406
?/? c.912+38A>G r.(=) p.(=) g.138644054A>G Copied from the Exome Variant Server MATR3_000016 5/12994 2/8590 3/4404
?/? c.912+43A>G r.(=) p.(=) g.138644059A>G Copied from the Exome Variant Server MATR3_000017 2/12974 2/8574 0/4400
?/? c.913-24T>C r.(=) p.(=) g.138650340T>C Copied from the Exome Variant Server MATR3_000018 1/13006 1/8600 0/4406
?/? c.974+27A>G r.(=) p.(=) g.138650452A>G Copied from the Exome Variant Server MATR3_000019 1/13006 1/8600 0/4406
?/? c.974+34_974+35insC r.(=) p.(=) g.138650459_138650460insC Copied from the Exome Variant Server MATR3_000021 1/12518 1/8254 0/4264
?/? c.974+35C>T r.(=) p.(=) g.138650460C>T Copied from the Exome Variant Server MATR3_000023 1/13006 1/8600 0/4406
?/? c.974+36G>A r.(=) p.(=) g.138650461G>A Copied from the Exome Variant Server MATR3_000025 294/13006 4/8600 290/4406
?/? c.974+66del r.(=) p.(=) g.138650491del Copied from the Exome Variant Server MATR3_000020 1/12518 1/8254 0/4264
?/? c.975-40A>G r.(=) p.(=) g.138651346A>G Copied from the Exome Variant Server MATR3_000022 24/12998 0/8594 24/4404
?/? c.975-25A>G r.(=) p.(=) g.138651361A>G Copied from the Exome Variant Server MATR3_000024 1/12994 1/8590 0/4404
?/? c.975-15C>T r.(=) p.(=) g.138651371C>T Copied from the Exome Variant Server MATR3_000026 1/12996 1/8590 0/4406
?/? c.1016+43T>A r.(=) p.(=) g.138651470T>A Copied from the Exome Variant Server MATR3_000027 24/12994 0/8590 24/4404
?/? c.1016+46A>G r.(=) p.(=) g.138651473A>G Copied from the Exome Variant Server MATR3_000028 3/12994 2/8590 1/4404
?/? c.1016+78_1016+81del r.(=) p.(=) g.138651505_138651508del Copied from the Exome Variant Server MATR3_000029 1/12466 0/8220 1/4246
?/? c.1017-48A>G r.(=) p.(=) g.138651717A>G Copied from the Exome Variant Server MATR3_000030 2/13006 2/8600 0/4406
?/? c.1017-47A>G r.(=) p.(=) g.138651718A>G Copied from the Exome Variant Server MATR3_000031 25/13006 0/8600 25/4406
?/? c.1017-36_1017-35del r.(=) p.(=) g.138651729_138651730del Copied from the Exome Variant Server MATR3_000032 41/12518 29/8254 12/4264
?/? c.1017-29A>G r.(=) p.(=) g.138651736A>G Copied from the Exome Variant Server MATR3_000033 1/13006 1/8600 0/4406
?/? c.1017-5_1017-4insC r.spl? p.? g.138651760_138651761insC Copied from the Exome Variant Server MATR3_000034 1/12518 1/8254 0/4264
?/? c.1116A>G r.(=) p.(=) g.138651864A>G Copied from the Exome Variant Server MATR3_000035 1/13006 1/8600 0/4406
?/? c.1129+9A>G r.(=) p.(=) g.138651886A>G Copied from the Exome Variant Server MATR3_000037 2/13006 2/8600 0/4406
?/? c.1129+33A>G r.(=) p.(=) g.138651910A>G Copied from the Exome Variant Server MATR3_000039 1/13002 1/8598 0/4404
?/? c.1129+45C>T r.(=) p.(=) g.138651922C>T Copied from the Exome Variant Server MATR3_000041 1/12976 1/8584 0/4392
?/? c.1130-72del r.(=) p.(=) g.138652670del Copied from the Exome Variant Server MATR3_000043 1/12516 0/8252 1/4264
?/? c.1130-43A>G r.(=) p.(=) g.138652699A>G Copied from the Exome Variant Server MATR3_000044 1/13006 0/8600 1/4406
?/? c.1130-5T>A r.spl? p.? g.138652737T>A Copied from the Exome Variant Server MATR3_000046 3/13006 0/8600 3/4406
?/? c.1130-4A>G r.spl? p.? g.138652738A>G Copied from the Exome Variant Server MATR3_000048 7/13006 0/8600 7/4406
?/? c.1132G>A r.(?) p.(Ala378Thr) g.138652744G>A Copied from the Exome Variant Server MATR3_000050 4/13006 4/8600 0/4406
?/? c.1165A>G r.(?) p.(Met389Val) g.138652777A>G Copied from the Exome Variant Server MATR3_000060 1/13006 1/8600 0/4406
?/? c.1182+13G>A r.(=) p.(=) g.138652807G>A Copied from the Exome Variant Server MATR3_000062 2/13006 0/8600 2/4406
?/? c.1182+17T>G r.(=) p.(=) g.138652811T>G Copied from the Exome Variant Server MATR3_000064 1/13006 0/8600 1/4406
?/? c.1182+30A>G r.(=) p.(=) g.138652824A>G Copied from the Exome Variant Server MATR3_000066 1/13006 1/8600 0/4406
?/? c.1183-30A>T r.(=) p.(=) g.138653255A>T Copied from the Exome Variant Server MATR3_000036 18/12986 0/8596 18/4390
?/? c.1183-22G>A r.(=) p.(=) g.138653263G>A Copied from the Exome Variant Server MATR3_000038 2/12984 2/8596 0/4388
?/? c.1183-5G>A r.spl? p.? g.138653280G>A Copied from the Exome Variant Server MATR3_000040 2/13000 1/8600 1/4400
?/? c.1183-4A>T r.spl? p.? g.138653281A>T Copied from the Exome Variant Server MATR3_000042 1/13000 0/8600 1/4400
?/? c.1245A>G r.(=) p.(=) g.138653347A>G Copied from the Exome Variant Server MATR3_000045 1/13004 1/8600 0/4404
?/? c.1273A>G r.(?) p.(Ile425Val) g.138653375A>G Copied from the Exome Variant Server MATR3_000047 1/12990 1/8596 0/4394
?/? c.1309-52G>A r.(=) p.(=) g.138654545G>A Copied from the Exome Variant Server MATR3_000049 11/5734 10/3982 1/1752
?/? c.1309-42T>C r.(=) p.(=) g.138654555T>C Copied from the Exome Variant Server MATR3_000051 14/13002 0/8598 14/4404
?/? c.1309-36_1309-35insA r.(=) p.(=) g.138654561_138654562insA Copied from the Exome Variant Server MATR3_000052 10/12516 9/8252 1/4264
?/? c.1309-28_1309-27del r.(=) p.(=) g.138654569_138654570del Copied from the Exome Variant Server MATR3_000053 6/12516 5/8252 1/4264
?/? c.1347C>T r.(=) p.(=) g.138654635C>T Copied from the Exome Variant Server MATR3_000054 14/13006 2/8600 12/4406
?/? c.1368C>T r.(=) p.(=) g.138654656C>T Copied from the Exome Variant Server MATR3_000055 1/13006 1/8600 0/4406
?/? c.1377G>A r.(=) p.(=) g.138654665G>A Copied from the Exome Variant Server MATR3_000056 3/13006 0/8600 3/4406
?/? c.1385T>G r.(?) p.(Phe462Cys) g.138654673T>G Copied from the Exome Variant Server MATR3_000057 1/13006 1/8600 0/4406
?/? c.1435-50A>G r.(=) p.(=) g.138654973A>G Copied from the Exome Variant Server MATR3_000058 19/12996 0/8596 19/4400
?/? c.1435-20G>A r.(=) p.(=) g.138655003G>A Copied from the Exome Variant Server MATR3_000059 1/13004 1/8598 0/4406
?/? c.1487G>A r.(?) p.(Arg496His) g.138655075G>A Copied from the Exome Variant Server MATR3_000061 1/13006 0/8600 1/4406
?/? c.1602+6A>G r.(=) p.(=) g.138655196A>G Copied from the Exome Variant Server MATR3_000063 222/13006 192/8600 30/4406
?/? c.1603-38T>C r.(=) p.(=) g.138657549T>C Copied from the Exome Variant Server MATR3_000065 1/12982 0/8598 1/4384
?/? c.1603-25G>T r.(=) p.(=) g.138657562G>T Copied from the Exome Variant Server MATR3_000067 1/13006 0/8600 1/4406
?/? c.1603-17T>C r.(=) p.(=) g.138657570T>C Copied from the Exome Variant Server MATR3_000068 20/13006 0/8600 20/4406
?/? c.1734+32A>C r.(=) p.(=) g.138657750A>C Copied from the Exome Variant Server MATR3_000069 294/13006 4/8600 290/4406
?/? c.1735-22C>G r.(=) p.(=) g.138658130C>G Copied from the Exome Variant Server MATR3_000070 2/12990 0/8592 2/4398
?/? c.1748G>T r.(?) p.(Gly583Val) g.138658165G>T Copied from the Exome Variant Server MATR3_000071 1/12998 1/8592 0/4406
?/? c.1778+5T>C r.spl? p.? g.138658200T>C Copied from the Exome Variant Server MATR3_000072 1/13000 0/8596 1/4404
?/? c.1779-31A>G r.(=) p.(=) g.138658256A>G Copied from the Exome Variant Server MATR3_000073 1/13002 1/8596 0/4406
?/? c.1779-20_1779-19del r.(=) p.(=) g.138658267_138658268del Copied from the Exome Variant Server MATR3_000074 4/12514 4/8250 0/4264
?/? c.1779-19T>G r.(=) p.(=) g.138658268T>G Copied from the Exome Variant Server MATR3_000075 1/13004 1/8598 0/4406
?/? c.1861T>G r.(?) p.(Ser621Ala) g.138658369T>G Copied from the Exome Variant Server MATR3_000076 1/13006 1/8600 0/4406
?/? c.1893C>T r.(=) p.(=) g.138658401C>T Copied from the Exome Variant Server MATR3_000077 5/13006 5/8600 0/4406
?/? c.1914C>T r.(=) p.(=) g.138658422C>T Copied from the Exome Variant Server MATR3_000078 1/13006 1/8600 0/4406
?/? c.1917A>G r.(=) p.(=) g.138658425A>G Copied from the Exome Variant Server MATR3_000079 1/13006 1/8600 0/4406
?/? c.1991A>C r.(?) p.(Glu664Ala) g.138658499A>C Copied from the Exome Variant Server MATR3_000080 7/13006 3/8600 4/4406
?/? c.2016C>G r.(=) p.(=) g.138658524C>G Copied from the Exome Variant Server MATR3_000081 1/13006 0/8600 1/4406
?/? c.2148+14C>G r.(=) p.(=) g.138658670C>G Copied from the Exome Variant Server MATR3_000082 1/12968 0/8582 1/4386
?/? c.2191T>C r.(=) p.(=) g.138661171T>C Copied from the Exome Variant Server MATR3_000083 2/13006 2/8600 0/4406
?/? c.2250C>T r.(=) p.(=) g.138661230C>T Copied from the Exome Variant Server MATR3_000084 1/13006 1/8600 0/4406
?/? c.2264A>G r.(?) p.(Asn755Ser) g.138661244A>G Copied from the Exome Variant Server MATR3_000085 2/13006 0/8600 2/4406
?/? c.2284G>A r.(?) p.(Ala762Thr) g.138661264G>A Copied from the Exome Variant Server MATR3_000086 5/13006 5/8600 0/4406
?/? c.2318A>G r.(?) p.(Tyr773Cys) g.138661298A>G Copied from the Exome Variant Server MATR3_000087 1/13006 0/8600 1/4406
?/? c.2326C>T r.(?) p.(Pro776Ser) g.138661306C>T Copied from the Exome Variant Server MATR3_000088 1/13006 1/8600 0/4406
?/? c.2360A>G r.(?) p.(Asn787Ser) g.138661340A>G Copied from the Exome Variant Server MATR3_000089 13/13006 1/8600 12/4406
?/? c.2371+35_2371+36del r.(=) p.(=) g.138661386_138661387del Copied from the Exome Variant Server MATR3_000090 2/12516 1/8252 1/4264
?/? c.2372-49_2372-45del r.(=) p.(=) g.138661803_138661807del Copied from the Exome Variant Server MATR3_000091 16/12416 12/8200 4/4216
?/? c.2372-40C>A r.(=) p.(=) g.138661812C>A Copied from the Exome Variant Server MATR3_000092 1/12934 1/8562 0/4372
?/? c.2454T>C r.(=) p.(=) g.138661934T>C Copied from the Exome Variant Server MATR3_000093 1/12998 1/8592 0/4406
?/? c.2493+11A>G r.(=) p.(=) g.138661984A>G Copied from the Exome Variant Server MATR3_000094 1/12980 0/8584 1/4396
?/? c.2493+27T>C r.(=) p.(=) g.138662000T>C Copied from the Exome Variant Server MATR3_000095 1/12968 1/8574 0/4394
?/? c.2493+39_2493+41del r.(=) p.(=) g.138662012_138662014del Copied from the Exome Variant Server MATR3_000096 1/12460 0/8226 1/4234
?/? c.2493+44G>A r.(=) p.(=) g.138662017G>A Copied from the Exome Variant Server MATR3_000097 1/12946 1/8572 0/4374
?/? c.2494-42_2494-41del r.(=) p.(=) g.138664992_138664993del Copied from the Exome Variant Server MATR3_000098 35/12488 15/8228 20/4260
?/? c.2494-35G>A r.(=) p.(=) g.138664999G>A Copied from the Exome Variant Server MATR3_000099 1/12984 1/8580 0/4404
?/? c.2494-31A>G r.(=) p.(=) g.138665003A>G Copied from the Exome Variant Server MATR3_000100 1/12984 1/8580 0/4404
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