Full data view for gene NFATC1

Information The variants shown are described using the NM_172390.1 transcript reference sequence.

209 entries on 3 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.-51G>A r.(=) p.(=) g.77156174G>A Copied from the Exome Variant Server NFATC1_000001 1177/11472 696/7646 481/3826 - - - - - - -
?/? c.-28C>T r.(=) p.(=) g.77156197C>T Copied from the Exome Variant Server NFATC1_000002 1236/11988 747/7978 489/4010 - - - - - - -
?/? c.-17_-15del r.(=) p.(=) g.77156208_77156210del Copied from the Exome Variant Server NFATC1_000003 128/10986 100/7292 28/3694 - - - - - - -
?/? c.-17_-15dup r.(=) p.(=) g.77156208_77156210dup Copied from the Exome Variant Server NFATC1_000004 52/10986 2/7292 50/3694 - - - - - - -
?/? c.-10C>G r.(=) p.(=) g.77156215C>G Copied from the Exome Variant Server NFATC1_000005 1/12326 0/8188 1/4138 - - - - - - -
?/? c.88G>A r.(?) p.(Ala30Thr) g.77156312G>A Copied from the Exome Variant Server NFATC1_000006 2/12434 0/8280 2/4154 - - - - - - -
?/? c.104G>A r.(?) p.(Gly35Asp) g.77156328G>A Copied from the Exome Variant Server NFATC1_000007 58/12310 0/8198 58/4112 - - - - - - -
?/? c.105C>T r.(=) p.(=) g.77156329C>T Copied from the Exome Variant Server NFATC1_000008 59/12294 0/8186 59/4108 - - - - - - -
?/? c.127+13C>T r.(=) p.(=) g.77156364C>T Copied from the Exome Variant Server NFATC1_000009 107/10644 4/7042 103/3602 - - - - - - -
?/? c.127+4013del r.(=) p.(=) g.77160364del Copied from the Exome Variant Server NFATC1_000010 634/7582 446/5074 188/2508 - - - - - - -
?/? c.127+4016_127+4017insGCCCCG r.(=) p.(=) g.77160367_77160368insGCCCCG Copied from the Exome Variant Server NFATC1_000011 2859/6372 2026/4326 833/2046 - - - - - - -
?/? c.127+4029_127+4030insC r.(=) p.(=) g.77160380_77160381insC Copied from the Exome Variant Server NFATC1_000013 436/8084 300/5442 136/2642 - - - - - - -
?/? c.127+4029_127+4030insCC r.(=) p.(=) g.77160380_77160381insCC Copied from the Exome Variant Server NFATC1_000012 1062/8084 767/5442 295/2642 - - - - - - -
?/? c.127+4033_127+4044del r.(=) p.(=) g.77160384_77160395del Copied from the Exome Variant Server NFATC1_000014 316/8400 223/5656 93/2744 - - - - - - -
?/? c.127+4034_127+4035insCCCGC r.(=) p.(=) g.77160385_77160386insCCCGC Copied from the Exome Variant Server NFATC1_000015 213/8318 119/5606 94/2712 - - - - - - -
?/? c.127+4077T>A r.(=) p.(=) g.77160428T>A Copied from the Exome Variant Server NFATC1_000016 2/11024 2/7326 0/3698 - - - - - - -
?/? c.128-356G>A r.(=) p.(=) g.77170047G>A Copied from the Exome Variant Server NFATC1_000017 1/5734 0/3982 1/1752 - - - - - - -
?/? c.128-353C>T r.(=) p.(=) g.77170050C>T Copied from the Exome Variant Server NFATC1_000018 1/5734 0/3982 1/1752 - - - - - - -
?/? c.128-339G>T r.(=) p.(=) g.77170064G>T Copied from the Exome Variant Server NFATC1_000019 138/5734 1/3982 137/1752 - - - - - - -
?/? c.128-306G>A r.(=) p.(=) g.77170097G>A Copied from the Exome Variant Server NFATC1_000020 42/5734 0/3982 42/1752 - - - - - - -
?/? c.128-299G>A r.(=) p.(=) g.77170104G>A Copied from the Exome Variant Server NFATC1_000021 1/5734 1/3982 0/1752 - - - - - - -
?/? c.128-286C>T r.(=) p.(=) g.77170117C>T Copied from the Exome Variant Server NFATC1_000022 1/5734 0/3982 1/1752 - - - - - - -
?/? c.128-285G>A r.(=) p.(=) g.77170118G>A Copied from the Exome Variant Server NFATC1_000023 1/5734 1/3982 0/1752 - - - - - - -
?/? c.128-266G>T r.(=) p.(=) g.77170137G>T Copied from the Exome Variant Server NFATC1_000024 1/5734 1/3982 0/1752 - - - - - - -
?/? c.128-263C>T r.(=) p.(=) g.77170140C>T Copied from the Exome Variant Server NFATC1_000025 1/5734 1/3982 0/1752 - - - - - - -
?/? c.128-39C>T r.(=) p.(=) g.77170364C>T Copied from the Exome Variant Server NFATC1_000026 1/13004 0/8600 1/4404 - - - - - - -
?/? c.128-36C>T r.(=) p.(=) g.77170367C>T Copied from the Exome Variant Server NFATC1_000027 349/13006 3/8600 346/4406 - - - - - - -
?/? c.128-12T>A r.(=) p.(=) g.77170391T>A Copied from the Exome Variant Server NFATC1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.135T>C r.(=) p.(=) g.77170410T>C Copied from the Exome Variant Server NFATC1_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.153C>T r.(=) p.(=) g.77170428C>T Copied from the Exome Variant Server NFATC1_000030 113/13006 102/8600 11/4406 - - - - - - -
?/? c.162C>T r.(=) p.(=) g.77170437C>T Copied from the Exome Variant Server NFATC1_000031 2/13006 0/8600 2/4406 - - - - - - -
?/? c.171G>A r.(=) p.(=) g.77170446G>A Copied from the Exome Variant Server NFATC1_000032 7/13002 5/8596 2/4406 - - - - - - -
?/? c.176C>T r.(?) p.(Pro59Leu) g.77170451C>T Copied from the Exome Variant Server NFATC1_000033 1/13004 0/8598 1/4406 - - - - - - -
?/? c.179C>T r.(?) p.(Thr60Met) g.77170454C>T Copied from the Exome Variant Server NFATC1_000034 2/13004 2/8598 0/4406 - - - - - - -
?/? c.180G>A r.(=) p.(=) g.77170455G>A Copied from the Exome Variant Server NFATC1_000035 2/13004 2/8598 0/4406 - - - - - - -
?/? c.197C>T r.(?) p.(Pro66Leu) g.77170472C>T Copied from the Exome Variant Server NFATC1_000036 3/13004 0/8598 3/4406 - - - - - - -
?/? c.202C>A r.(?) p.(Pro68Thr) g.77170477C>A Copied from the Exome Variant Server NFATC1_000037 1035/13004 935/8598 100/4406 - - - - - - -
?/? c.204G>A r.(=) p.(=) g.77170479G>A Copied from the Exome Variant Server NFATC1_000038 90/13004 31/8598 59/4406 - - - - - - -
?/? c.213C>T r.(=) p.(=) g.77170488C>T Copied from the Exome Variant Server NFATC1_000039 1/13004 1/8598 0/4406 - - - - - - -
?/? c.223T>G r.(?) p.(Ser75Ala) g.77170498T>G Copied from the Exome Variant Server NFATC1_000040 1/13004 0/8598 1/4406 - - - - - - -
?/? c.230C>T r.(?) p.(Pro77Leu) g.77170505C>T Copied from the Exome Variant Server NFATC1_000041 4/13004 3/8598 1/4406 - - - - - - -
?/? c.236T>A r.(?) p.(Ile79Asn) g.77170511T>A Copied from the Exome Variant Server NFATC1_000042 1/13002 1/8596 0/4406 - - - - - - -
?/? c.237C>T r.(=) p.(=) g.77170512C>T Copied from the Exome Variant Server NFATC1_000043 60/13002 0/8596 60/4406 - - - - - - -
?/? c.260C>T r.(?) p.(Ser87Leu) g.77170535C>T Copied from the Exome Variant Server NFATC1_000044 1/13004 1/8598 0/4406 - - - - - - -
?/? c.267C>T r.(=) p.(=) g.77170542C>T Copied from the Exome Variant Server NFATC1_000045 367/13004 333/8598 34/4406 - - - - - - -
?/? c.268G>A r.(?) p.(Gly90Arg) g.77170543G>A Copied from the Exome Variant Server NFATC1_000046 1/13004 0/8598 1/4406 - - - - - - -
?/? c.291C>T r.(=) p.(=) g.77170566C>T Copied from the Exome Variant Server NFATC1_000047 336/13004 6/8598 330/4406 - - - - - - -
?/? c.292G>A r.(?) p.(Ala98Thr) g.77170567G>A Copied from the Exome Variant Server NFATC1_000048 2/13004 0/8598 2/4406 - - - - - - -
?/? c.294G>A r.(=) p.(=) g.77170569G>A Copied from the Exome Variant Server NFATC1_000049 182/13004 1/8598 181/4406 - - - - - - -
?/? c.303C>T r.(=) p.(=) g.77170578C>T Copied from the Exome Variant Server NFATC1_000050 1/13002 1/8596 0/4406 - - - - - - -
?/? c.411C>T r.(=) p.(=) g.77170686C>T Copied from the Exome Variant Server NFATC1_000051 1/13004 0/8598 1/4406 - - - - - - -
?/? c.438_440del r.(?) p.(Ser148del) g.77170713_77170715del Copied from the Exome Variant Server NFATC1_000052 2/12514 1/8250 1/4264 - - - - - - -
?/? c.448C>T r.(?) p.(Arg150Trp) g.77170723C>T Copied from the Exome Variant Server NFATC1_000053 1/13000 0/8596 1/4404 - - - - - - -
?/? c.462G>A r.(=) p.(=) g.77170737G>A Copied from the Exome Variant Server NFATC1_000054 1/12990 1/8586 0/4404 - - - - - - -
?/? c.490G>A r.(?) p.(Ala164Thr) g.77170765G>A Copied from the Exome Variant Server NFATC1_000055 1/13000 1/8594 0/4406 - - - - - - -
?/? c.507G>A r.(=) p.(=) g.77170782G>A Copied from the Exome Variant Server NFATC1_000056 3/13004 1/8598 2/4406 - - - - - - -
?/? c.567C>T r.(=) p.(=) g.77170842C>T Copied from the Exome Variant Server NFATC1_000057 14/13006 0/8600 14/4406 - - - - - - -
?/? c.583T>C r.(?) p.(Tyr195His) g.77170858T>C Copied from the Exome Variant Server NFATC1_000058 4/13004 4/8598 0/4406 - - - - - - -
?/? c.606G>A r.(=) p.(=) g.77170881G>A Copied from the Exome Variant Server NFATC1_000059 1/13004 1/8598 0/4406 - - - - - - -
?/? c.609G>A r.(=) p.(=) g.77170884G>A Copied from the Exome Variant Server NFATC1_000060 1/13004 1/8598 0/4406 - - - - - - -
?/? c.628G>A r.(?) p.(Val210Met) g.77170903G>A Copied from the Exome Variant Server NFATC1_000061 14/12996 13/8594 1/4402 - - - - - - -
?/? c.646G>A r.(?) p.(Asp216Asn) g.77170921G>A Copied from the Exome Variant Server NFATC1_000062 1/12998 1/8596 0/4402 - - - - - - -
?/? c.669C>T r.(=) p.(=) g.77170944C>T Copied from the Exome Variant Server NFATC1_000063 1/12984 1/8586 0/4398 - - - - - - -
?/? c.670G>A r.(?) p.(Gly224Arg) g.77170945G>A Copied from the Exome Variant Server NFATC1_000064 3/12986 1/8586 2/4400 - - - - - - -
?/? c.689T>A r.(?) p.(Leu230Gln) g.77170964T>A Copied from the Exome Variant Server NFATC1_000065 1/12978 1/8580 0/4398 - - - - - - -
?/? c.703C>T r.(?) p.(Arg235Trp) g.77170978C>T Copied from the Exome Variant Server NFATC1_000066 1/12958 1/8560 0/4398 - - - - - - -
?/? c.723G>A r.(=) p.(=) g.77170998G>A Copied from the Exome Variant Server NFATC1_000067 52/12904 2/8524 50/4380 - - - - - - -
?/? c.727C>T r.(?) p.(Arg243Cys) g.77171002C>T Copied from the Exome Variant Server NFATC1_000068 1/12916 1/8528 0/4388 - - - - - - -
?/? c.729_730insGG r.(?) p.(Ala244Glyfs*53) g.77171004_77171005insGG Copied from the Exome Variant Server NFATC1_000069 10/12366 2/8142 8/4224 - - - - - - -
?/? c.763C>T r.(?) p.(Arg255Cys) g.77171038C>T Copied from the Exome Variant Server NFATC1_000070 1/12902 1/8522 0/4380 - - - - - - -
?/? c.777C>T r.(=) p.(=) g.77171052C>T Copied from the Exome Variant Server NFATC1_000071 2/12928 0/8544 2/4384 - - - - - - -
?/? c.778G>A r.(?) p.(Ala260Thr) g.77171053G>A Copied from the Exome Variant Server NFATC1_000072 6/12926 5/8542 1/4384 - - - - - - -
?/? c.786T>G r.(=) p.(=) g.77171061T>G Copied from the Exome Variant Server NFATC1_000073 7083/12906 5959/8530 1124/4376 - - - - - - -
?/? c.813C>T r.(=) p.(=) g.77171088C>T Copied from the Exome Variant Server NFATC1_000075 1/12830 1/8498 0/4332 - - - - - - -
?/? c.824C>A r.(?) p.(Pro275Gln) g.77171099C>A Copied from the Exome Variant Server NFATC1_000076 1/12830 0/8498 1/4332 - - - - - - -
?/? c.825G>A r.(=) p.(=) g.77171100G>A Copied from the Exome Variant Server NFATC1_000078 1/12842 0/8504 1/4338 - - - - - - -
?/? c.855G>A r.(=) p.(=) g.77171130G>A Copied from the Exome Variant Server NFATC1_000074 243/12902 2/8532 241/4370 - - - - - - -
?/? c.860C>T r.(?) p.(Pro287Leu) g.77171135C>T Copied from the Exome Variant Server NFATC1_000077 1/12912 1/8540 0/4372 - - - - - - -
?/? c.861G>A r.(=) p.(=) g.77171136G>A Copied from the Exome Variant Server NFATC1_000079 2/12914 1/8540 1/4374 - - - - - - -
?/? c.879C>T r.(=) p.(=) g.77171154C>T Copied from the Exome Variant Server NFATC1_000080 1/12964 1/8576 0/4388 - - - - - - -
?/? c.881G>C r.(?) p.(Ser294Thr) g.77171156G>C Copied from the Exome Variant Server NFATC1_000081 1/12976 0/8578 1/4398 - - - - - - -
?/? c.883G>A r.(?) p.(Val295Met) g.77171158G>A Copied from the Exome Variant Server NFATC1_000082 3/12980 3/8582 0/4398 - - - - - - -
?/? c.888C>T r.(=) p.(=) g.77171163C>T Copied from the Exome Variant Server NFATC1_000083 2/12982 0/8584 2/4398 - - - - - - -
?/? c.889G>A r.(?) p.(Asp297Asn) g.77171164G>A Copied from the Exome Variant Server NFATC1_000084 8/12982 8/8586 0/4396 - - - - - - -
?/? c.897G>A r.(=) p.(=) g.77171172G>A Copied from the Exome Variant Server NFATC1_000085 1/12988 0/8588 1/4400 - - - - - - -
?/? c.930G>T r.(=) p.(=) g.77171205G>T Copied from the Exome Variant Server NFATC1_000086 1/12976 1/8576 0/4400 - - - - - - -
?/? c.942C>T r.(=) p.(=) g.77171217C>T Copied from the Exome Variant Server NFATC1_000087 1/12964 0/8568 1/4396 - - - - - - -
?/? c.951C>T r.(=) p.(=) g.77171226C>T Copied from the Exome Variant Server NFATC1_000088 1/12966 0/8566 1/4400 - - - - - - -
?/? c.964G>A r.(?) p.(Asp322Asn) g.77171239G>A Copied from the Exome Variant Server NFATC1_000089 1/12968 1/8566 0/4402 - - - - - - -
?/? c.971G>T r.(?) p.(Ser324Ile) g.77171246G>T Copied from the Exome Variant Server NFATC1_000090 1/12984 0/8580 1/4404 - - - - - - -
?/? c.990C>T r.(=) p.(=) g.77171265C>T Copied from the Exome Variant Server NFATC1_000091 2/12990 0/8590 2/4400 - - - - - - -
?/? c.1041G>A r.(=) p.(=) g.77171316G>A Copied from the Exome Variant Server NFATC1_000092 1/12978 1/8580 0/4398 - - - - - - -
?/? c.1055C>A r.(?) p.(Pro352His) g.77171330C>A Copied from the Exome Variant Server NFATC1_000093 1/12970 1/8574 0/4396 - - - - - - -
?/? c.1056C>T r.(=) p.(=) g.77171331C>T Copied from the Exome Variant Server NFATC1_000094 21/12970 0/8574 21/4396 - - - - - - -
?/? c.1058T>G r.(?) p.(Val353Gly) g.77171333T>G Copied from the Exome Variant Server NFATC1_000095 1/12974 1/8580 0/4394 - - - - - - -
?/? c.1069C>G r.(?) p.(Leu357Val) g.77171344C>G Copied from the Exome Variant Server NFATC1_000096 29/12966 29/8578 0/4388 - - - - - - -
?/? c.1075A>C r.(?) p.(Ser359Arg) g.77171350A>C Copied from the Exome Variant Server NFATC1_000097 1/12966 0/8576 1/4390 - - - - - - -
?/? c.1083G>A r.(=) p.(=) g.77171358G>A Copied from the Exome Variant Server NFATC1_000098 1/12954 0/8570 1/4384 - - - - - - -
?/? c.1089G>A r.(=) p.(=) g.77171364G>A Copied from the Exome Variant Server NFATC1_000099 1/12958 0/8572 1/4386 - - - - - - -
?/? c.1098C>A r.(?) p.(Phe366Leu) g.77171373C>A Copied from the Exome Variant Server NFATC1_000100 2/12974 0/8584 2/4390 - - - - - - -
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