All transcript variants in gene SMARCA4

Information The variants shown are described using the NM_003072.3 transcript reference sequence.

387 entries on 4 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.-31-16C>T r.(=) p.(=) g.11094781C>T Copied from the Exome Variant Server SMARCA4_000001 1/13002 1/8598 0/4404
?/? c.-31-13G>A r.(=) p.(=) g.11094784G>A Copied from the Exome Variant Server SMARCA4_000002 1/13002 1/8598 0/4404
?/? c.-31-2A>T r.spl? p.? g.11094795A>T Copied from the Exome Variant Server SMARCA4_000003 1/13004 1/8598 0/4406
?/? c.27C>T r.(=) p.(=) g.11094854C>T Copied from the Exome Variant Server SMARCA4_000004 1/13004 1/8600 0/4404
?/? c.28G>A r.(?) p.(Gly10Arg) g.11094855G>A Copied from the Exome Variant Server SMARCA4_000005 1/13002 0/8600 1/4402
?/? c.38G>A r.(?) p.(Arg13Gln) g.11094865G>A Copied from the Exome Variant Server SMARCA4_000006 2/13002 2/8598 0/4404
?/? c.76G>A r.(?) p.(Ala26Thr) g.11094903G>A Copied from the Exome Variant Server SMARCA4_000007 12/12944 0/8566 12/4378
?/? c.108G>A r.(=) p.(=) g.11094935G>A Copied from the Exome Variant Server SMARCA4_000008 1/12964 0/8574 1/4390
?/? c.114C>T r.(=) p.(=) g.11094941C>T Copied from the Exome Variant Server SMARCA4_000009 2/12968 0/8580 2/4388
?/? c.127A>G r.(?) p.(Met43Val) g.11094954A>G Copied from the Exome Variant Server SMARCA4_000010 1/12974 1/8590 0/4384
?/? c.222+14T>C r.(=) p.(=) g.11095063T>C Copied from the Exome Variant Server SMARCA4_000011 69/12888 10/8530 59/4358
?/? c.222+18C>T r.(=) p.(=) g.11095067C>T Copied from the Exome Variant Server SMARCA4_000012 35/12848 34/8506 1/4342
?/? c.222+24G>A r.(=) p.(=) g.11095073G>A Copied from the Exome Variant Server SMARCA4_000013 1/12806 1/8488 0/4318
?/? c.222+28C>G r.(=) p.(=) g.11095077C>G Copied from the Exome Variant Server SMARCA4_000014 9/12788 9/8470 0/4318
?/? c.223-49A>G r.(=) p.(=) g.11095900A>G Copied from the Exome Variant Server SMARCA4_000015 71/13004 2/8598 69/4406
?/? c.223-46T>G r.(=) p.(=) g.11095903T>G Copied from the Exome Variant Server SMARCA4_000016 1/13004 0/8598 1/4406
?/? c.223-42G>A r.(=) p.(=) g.11095907G>A Copied from the Exome Variant Server SMARCA4_000017 53/13004 0/8598 53/4406
?/? c.223-22C>G r.(=) p.(=) g.11095927C>G Copied from the Exome Variant Server SMARCA4_000018 1/13006 1/8600 0/4406
?/? c.223-5C>T r.spl? p.? g.11095944C>T Copied from the Exome Variant Server SMARCA4_000019 3/13006 1/8600 2/4406
?/? c.258C>T r.(=) p.(=) g.11095984C>T Copied from the Exome Variant Server SMARCA4_000020 20/13006 0/8600 20/4406
?/? c.263C>T r.(?) p.(Pro88Leu) g.11095989C>T Copied from the Exome Variant Server SMARCA4_000021 2/13006 0/8600 2/4406
?/? c.330C>T r.(=) p.(=) g.11096056C>T Copied from the Exome Variant Server SMARCA4_000022 1/13006 1/8600 0/4406
?/? c.355+11G>A r.(=) p.(=) g.11096092G>A Copied from the Exome Variant Server SMARCA4_000023 6/13002 0/8600 6/4402
?/? c.355+12C>T r.(=) p.(=) g.11096093C>T Copied from the Exome Variant Server SMARCA4_000024 1/13002 1/8600 0/4402
?/? c.355+23G>A r.(=) p.(=) g.11096104G>A Copied from the Exome Variant Server SMARCA4_000025 3/13004 0/8600 3/4404
?/? c.355+49C>G r.(=) p.(=) g.11096130C>G Copied from the Exome Variant Server SMARCA4_000026 14/13000 14/8598 0/4402
?/? c.356-39A>G r.(=) p.(=) g.11096826A>G Copied from the Exome Variant Server SMARCA4_000027 7/13006 0/8600 7/4406
?/? c.356-38T>C r.(=) p.(=) g.11096827T>C Copied from the Exome Variant Server SMARCA4_000028 4/13006 0/8600 4/4406
?/? c.356-23A>G r.(=) p.(=) g.11096842A>G Copied from the Exome Variant Server SMARCA4_000029 1/13006 1/8600 0/4406
?/? c.356-14A>G r.(=) p.(=) g.11096851A>G Copied from the Exome Variant Server SMARCA4_000030 560/13004 352/8598 208/4406
?/? c.403C>G r.(?) p.(Pro135Ala) g.11096912C>G Copied from the Exome Variant Server SMARCA4_000031 3/13006 3/8600 0/4406
?/? c.417G>A r.(=) p.(=) g.11096926G>A Copied from the Exome Variant Server SMARCA4_000032 3/13006 1/8600 2/4406
?/? c.425G>T r.(?) p.(Gly142Val) g.11096934G>T Copied from the Exome Variant Server SMARCA4_000033 2/13004 0/8598 2/4406
?/? c.442G>A r.(?) p.(Gly148Arg) g.11096951G>A Copied from the Exome Variant Server SMARCA4_000034 5/13004 1/8598 4/4406
?/? c.450A>T r.(=) p.(=) g.11096959A>T Copied from the Exome Variant Server SMARCA4_000035 1/13004 0/8598 1/4406
?/? c.459G>A r.(=) p.(=) g.11096968G>A Copied from the Exome Variant Server SMARCA4_000036 1/13004 1/8598 0/4406
?/? c.505C>T r.(?) p.(Pro169Ser) g.11097014C>T Copied from the Exome Variant Server SMARCA4_000037 1/13002 1/8598 0/4404
?/? c.589C>T r.(?) p.(Pro197Ser) g.11097098C>T Copied from the Exome Variant Server SMARCA4_000038 12/12934 11/8554 1/4380
?/? c.656C>T r.(?) p.(Thr219Met) g.11097165C>T Copied from the Exome Variant Server SMARCA4_000039 2/12560 0/8322 2/4238
?/? c.708T>C r.(=) p.(=) g.11097217T>C Copied from the Exome Variant Server SMARCA4_000040 4/10800 0/7160 4/3640
?/? c.761-39G>A r.(=) p.(=) g.11097542G>A Copied from the Exome Variant Server SMARCA4_000041 1/13004 1/8598 0/4406
?/? c.761-36C>T r.(=) p.(=) g.11097545C>T Copied from the Exome Variant Server SMARCA4_000042 16/13004 0/8598 16/4406
?/? c.762T>C r.(=) p.(=) g.11097582T>C Copied from the Exome Variant Server SMARCA4_000043 2/13004 2/8598 0/4406
?/? c.797C>T r.(?) p.(Ser266Leu) g.11097617C>T Copied from the Exome Variant Server SMARCA4_000044 2/13004 0/8598 2/4406
?/? c.810C>T r.(=) p.(=) g.11097630C>T Copied from the Exome Variant Server SMARCA4_000045 1/13004 1/8598 0/4406
?/? c.859+5G>A r.spl? p.? g.11097684G>A Copied from the Exome Variant Server SMARCA4_000046 1/12998 1/8596 0/4402
?/? c.859+7T>A r.(=) p.(=) g.11097686T>A Copied from the Exome Variant Server SMARCA4_000047 22/12998 20/8596 2/4402
?/? c.859+30C>T r.(=) p.(=) g.11097709C>T Copied from the Exome Variant Server SMARCA4_000048 92/12988 85/8592 7/4396
?/? c.859+31G>A r.(=) p.(=) g.11097710G>A Copied from the Exome Variant Server SMARCA4_000049 5/12988 0/8592 5/4396
?/? c.860-33A>G r.(=) p.(=) g.11098309A>G Copied from the Exome Variant Server SMARCA4_000050 64/13000 60/8594 4/4406
?/? c.860-19_860-18insT r.(=) p.(=) g.11098323_11098324insT Copied from the Exome Variant Server SMARCA4_000051 1/12516 1/8252 0/4264
?/? c.914C>T r.(?) p.(Pro305Leu) g.11098396C>T Copied from the Exome Variant Server SMARCA4_000052 1/13004 0/8598 1/4406
?/? c.915G>A r.(=) p.(=) g.11098397G>A Copied from the Exome Variant Server SMARCA4_000053 202/13000 4/8596 198/4404
?/? c.930C>A r.(=) p.(=) g.11098412C>A Copied from the Exome Variant Server SMARCA4_000054 128/12974 0/8586 128/4388
?/? c.951C>T r.(=) p.(=) g.11098433C>T Copied from the Exome Variant Server SMARCA4_000055 1/12682 1/8366 0/4316
?/? c.963C>T r.(=) p.(=) g.11098445C>T Copied from the Exome Variant Server SMARCA4_000056 1/12382 1/8128 0/4254
?/? c.972C>T r.(=) p.(=) g.11098454C>T Copied from the Exome Variant Server SMARCA4_000057 4/12336 0/8112 4/4224
?/? c.975G>A r.(=) p.(=) g.11098457G>A Copied from the Exome Variant Server SMARCA4_000058 1/12394 1/8158 0/4236
?/? c.983C>T r.(?) p.(Pro328Leu) g.11098465C>T Copied from the Exome Variant Server SMARCA4_000059 1/12442 1/8210 0/4232
?/? c.1003C>A r.(?) p.(Gln335Lys) g.11098485C>A Copied from the Exome Variant Server SMARCA4_000060 1/12566 1/8310 0/4256
?/? c.1006C>A r.(?) p.(Pro336Thr) g.11098488C>A Copied from the Exome Variant Server SMARCA4_000061 1/12576 1/8318 0/4258
?/? c.1018G>A r.(?) p.(Ala340Thr) g.11098500G>A Copied from the Exome Variant Server SMARCA4_000062 1/12590 0/8316 1/4274
?/? c.1074G>A r.(=) p.(=) g.11098556G>A Copied from the Exome Variant Server SMARCA4_000063 2/12714 2/8394 0/4320
?/? c.1076G>A r.(?) p.(Arg359Gln) g.11098558G>A Copied from the Exome Variant Server SMARCA4_000064 3/12710 1/8390 2/4320
?/? c.1083C>T r.(=) p.(=) g.11098565C>T Copied from the Exome Variant Server SMARCA4_000065 1/12708 0/8388 1/4320
?/? c.1099C>T r.(=) p.(=) g.11098581C>T Copied from the Exome Variant Server SMARCA4_000066 2/12664 2/8344 0/4320
?/? c.1114T>C r.(?) p.(Tyr372His) g.11098596T>C Copied from the Exome Variant Server SMARCA4_000067 139/12676 127/8358 12/4318
?/? c.1118+1_1118+2insC r.spl? p.? g.11098601_11098602insC Copied from the Exome Variant Server SMARCA4_000068 4/12130 4/7968 0/4162
?/? c.1118+41del r.(=) p.(=) g.11098641del Copied from the Exome Variant Server SMARCA4_000069 2/11996 1/7876 1/4120
?/? c.1118+50C>A r.(=) p.(=) g.11098650C>A Copied from the Exome Variant Server SMARCA4_000070 1/12508 0/8222 1/4286
?/? c.1119-46del r.(=) p.(=) g.11099947del Copied from the Exome Variant Server SMARCA4_000071 19/12518 9/8254 10/4264
?/? c.1119-44C>T r.(=) p.(=) g.11099949C>T Copied from the Exome Variant Server SMARCA4_000072 3/13006 0/8600 3/4406
?/? c.1119-28C>T r.(=) p.(=) g.11099965C>T Copied from the Exome Variant Server SMARCA4_000073 25/13006 0/8600 25/4406
?/? c.1119-14G>T r.(=) p.(=) g.11099979G>T Copied from the Exome Variant Server SMARCA4_000074 1/13006 0/8600 1/4406
?/? c.1119-12C>T r.(=) p.(=) g.11099981C>T Copied from the Exome Variant Server SMARCA4_000075 49/13006 2/8600 47/4406
?/? c.1119-6T>C r.(=) p.(=) g.11099987T>C Copied from the Exome Variant Server SMARCA4_000076 4/13006 3/8600 1/4406
?/? c.1134C>T r.(=) p.(=) g.11100008C>T Copied from the Exome Variant Server SMARCA4_000077 1/13006 1/8600 0/4406
?/? c.1140C>T r.(=) p.(=) g.11100014C>T Copied from the Exome Variant Server SMARCA4_000078 46/13006 0/8600 46/4406
?/? c.1155T>C r.(=) p.(=) g.11100029T>C Copied from the Exome Variant Server SMARCA4_000079 1/13006 1/8600 0/4406
?/? c.1179C>T r.(=) p.(=) g.11100053C>T Copied from the Exome Variant Server SMARCA4_000080 1/13006 1/8600 0/4406
?/? c.1236C>T r.(=) p.(=) g.11100110C>T Copied from the Exome Variant Server SMARCA4_000081 2/13006 2/8600 0/4406
?/? c.1245+13A>G r.(=) p.(=) g.11100132A>G Copied from the Exome Variant Server SMARCA4_000082 1/13006 1/8600 0/4406
?/? c.1245+18C>T r.(=) p.(=) g.11100137C>T Copied from the Exome Variant Server SMARCA4_000083 3/13006 0/8600 3/4406
?/? c.1245+28C>T r.(=) p.(=) g.11100147C>T Copied from the Exome Variant Server SMARCA4_000084 1/13006 0/8600 1/4406
?/? c.1246-30T>C r.(=) p.(=) g.11101796T>C Copied from the Exome Variant Server SMARCA4_000085 3/13004 1/8598 2/4406
?/? c.1274G>A r.(?) p.(Arg425Gln) g.11101854G>A Copied from the Exome Variant Server SMARCA4_000086 1/13006 1/8600 0/4406
?/? c.1287G>A r.(=) p.(=) g.11101867G>A Copied from the Exome Variant Server SMARCA4_000087 1/13006 1/8600 0/4406
?/? c.1303A>G r.(?) p.(Asn435Asp) g.11101883A>G Copied from the Exome Variant Server SMARCA4_000088 1/13006 1/8600 0/4406
?/? c.1344C>T r.(=) p.(=) g.11101924C>T Copied from the Exome Variant Server SMARCA4_000089 3/13006 1/8600 2/4406
?/? c.1410G>A r.(=) p.(=) g.11101990G>A Copied from the Exome Variant Server SMARCA4_000090 1/12986 1/8594 0/4392
?/? c.1413G>A r.(=) p.(=) g.11101993G>A Copied from the Exome Variant Server SMARCA4_000091 493/12988 341/8596 152/4392
?/? c.1419+4C>T r.spl? p.? g.11102003C>T Copied from the Exome Variant Server SMARCA4_000092 3/12980 0/8592 3/4388
?/? c.1419+5G>A r.spl? p.? g.11102004G>A Copied from the Exome Variant Server SMARCA4_000093 1/12974 0/8586 1/4388
?/? c.1419+7T>C r.(=) p.(=) g.11102006T>C Copied from the Exome Variant Server SMARCA4_000094 60/12972 7/8586 53/4386
?/? c.1419+8C>T r.(=) p.(=) g.11102007C>T Copied from the Exome Variant Server SMARCA4_000095 169/12968 1/8586 168/4382
?/? c.1419+9C>T r.(=) p.(=) g.11102008C>T Copied from the Exome Variant Server SMARCA4_000096 16/12966 15/8584 1/4382
?/? c.1419+25C>G r.(=) p.(=) g.11102024C>G Copied from the Exome Variant Server SMARCA4_000097 6/12864 6/8524 0/4340
?/? c.1419+33C>T r.(=) p.(=) g.11102032C>T Copied from the Exome Variant Server SMARCA4_000098 1/12804 1/8480 0/4324
?/? c.1420-45C>T r.(=) p.(=) g.11105459C>T Copied from the Exome Variant Server SMARCA4_000099 1/13006 1/8600 0/4406
?/? c.1420-41G>A r.(=) p.(=) g.11105463G>A Copied from the Exome Variant Server SMARCA4_000100 1/13006 1/8600 0/4406
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