All transcript variants in gene MCF2

Information The variants shown are described using the NM_005369.4 transcript reference sequence.

120 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.-4351G>A r.(=) p.(=) g.138729028C>T Copied from the Exome Variant Server MCF2_000078 3/9498 3/6386 0/3112
?/? c.-3146G>A r.(=) p.(=) g.138727823C>T Copied from the Exome Variant Server MCF2_000077 3/9408 2/6350 1/3058
?/? c.-3125C>A r.(=) p.(=) g.138727802G>T Copied from the Exome Variant Server MCF2_000076 5/9406 0/6346 5/3060
?/? c.-43C>T r.(=) p.(=) g.138724720G>A Copied from the Exome Variant Server MCF2_000075 1/10563 0/6728 1/3835
?/? c.50C>T r.(?) p.(Ala17Val) g.138724628G>A Copied from the Exome Variant Server MCF2_000089 16/10563 16/6728 0/3835
?/? c.52-51G>A r.(=) p.(=) g.138714664C>T Copied from the Exome Variant Server MCF2_000088 116/10558 2/6725 114/3833
?/? c.117G>A r.(=) p.(=) g.138714548C>T Copied from the Exome Variant Server MCF2_000087 139/10563 1/6728 138/3835
?/? c.141T>C r.(=) p.(=) g.138714524A>G Copied from the Exome Variant Server MCF2_000086 1/10563 0/6728 1/3835
?/? c.171+52G>A r.(=) p.(=) g.138714442C>T Copied from the Exome Variant Server MCF2_000050 67/4525 1/3107 66/1418
?/? c.172-5T>C r.spl? p.? g.138713675A>G Copied from the Exome Variant Server MCF2_000049 299/10563 2/6728 297/3835
?/? c.288+21C>T r.(=) p.(=) g.138713533G>A Copied from the Exome Variant Server MCF2_000048 1/10563 1/6728 0/3835
?/? c.289-17T>C r.(=) p.(=) g.138712020A>G Copied from the Exome Variant Server MCF2_000047 1/10560 0/6725 1/3835
?/? c.322A>G r.(?) p.(Met108Val) g.138711970T>C Copied from the Exome Variant Server MCF2_000046 1/10563 0/6728 1/3835
?/? c.359C>T r.(?) p.(Ala120Val) g.138711933G>A Copied from the Exome Variant Server MCF2_000045 1/10563 1/6728 0/3835
?/? c.438+39G>T r.(=) p.(=) g.138711815C>A Copied from the Exome Variant Server MCF2_000044 20/10563 20/6728 0/3835
?/? c.438+46_438+49del r.(=) p.(=) g.138711805_138711808del Copied from the Exome Variant Server MCF2_000043 5/10202 2/6481 3/3721
?/? c.438+52G>A r.(=) p.(=) g.138711802C>T Copied from the Exome Variant Server MCF2_000042 1/4525 1/3107 0/1418
?/? c.439-28G>A r.(=) p.(=) g.138708943C>T Copied from the Exome Variant Server MCF2_000041 1/10563 1/6728 0/3835
?/? c.474T>C r.(=) p.(=) g.138708880A>G Copied from the Exome Variant Server MCF2_000040 1/10563 1/6728 0/3835
?/? c.556T>G r.(?) p.(Trp186Gly) g.138708798A>C Copied from the Exome Variant Server MCF2_000039 2/10561 0/6728 2/3833
?/? c.572+25_572+26del r.(=) p.(=) g.138708756_138708757del Copied from the Exome Variant Server MCF2_000038 17/10203 13/6484 4/3719
?/? c.586G>A r.(?) p.(Val196Ile) g.138708453C>T Copied from the Exome Variant Server MCF2_000037 1/10557 0/6724 1/3833
?/? c.687+16del r.(=) p.(=) g.138708336del Copied from the Exome Variant Server MCF2_000036 110/10199 96/6480 14/3719
?/? c.688-20T>C r.(=) p.(=) g.138701885A>G Copied from the Exome Variant Server MCF2_000035 5/10518 0/6695 5/3823
?/? c.727G>C r.(?) p.(Glu243Gln) g.138701826C>G Copied from the Exome Variant Server MCF2_000034 2/10541 2/6708 0/3833
?/? c.807+21T>A r.(=) p.(=) g.138701725A>T Copied from the Exome Variant Server MCF2_000033 12/10509 0/6689 12/3820
?/? c.807+40T>A r.(=) p.(=) g.138701706A>T Copied from the Exome Variant Server MCF2_000032 1/10495 1/6674 0/3821
?/? c.808-18del r.(=) p.(=) g.138699881del Copied from the Exome Variant Server MCF2_000031 77/10201 1/6482 76/3719
?/? c.937G>A r.(?) p.(Glu313Lys) g.138699734C>T Copied from the Exome Variant Server MCF2_000030 14/10563 13/6728 1/3835
?/? c.1000-33A>G r.(=) p.(=) g.138698665T>C Copied from the Exome Variant Server MCF2_000029 6021/10305 3518/6571 2503/3734
?/? c.1000-33del r.(=) p.(=) g.138698665del Copied from the Exome Variant Server MCF2_000028 5619/9920 3344/6319 2275/3601
?/? c.1004G>A r.(?) p.(Arg335His) g.138698628C>T Copied from the Exome Variant Server MCF2_000027 1/10548 1/6719 0/3829
?/? c.1044G>A r.(=) p.(=) g.138698588C>T Copied from the Exome Variant Server MCF2_000026 1/10554 1/6722 0/3832
?/? c.1072G>C r.(?) p.(Asp358His) g.138698560C>G Copied from the Exome Variant Server MCF2_000085 5/10555 0/6723 5/3832
?/? c.1075G>A r.(?) p.(Ala359Thr) g.138698557C>T Copied from the Exome Variant Server MCF2_000084 1/10556 0/6724 1/3832
?/? c.1099G>A r.(?) p.(Glu367Lys) g.138698533C>T Copied from the Exome Variant Server MCF2_000083 16/10555 16/6721 0/3834
?/? c.1192-35T>G r.(=) p.(=) g.138697246A>C Copied from the Exome Variant Server MCF2_000082 6113/10556 3565/6721 2548/3835
?/? c.1192-10C>T r.(=) p.(=) g.138697221G>A Copied from the Exome Variant Server MCF2_000081 1/10563 0/6728 1/3835
?/? c.1192-5C>T r.spl? p.? g.138697216G>A Copied from the Exome Variant Server MCF2_000080 122/10563 3/6728 119/3835
?/? c.1192-4G>A r.spl? p.? g.138697215C>T Copied from the Exome Variant Server MCF2_000079 1/10563 1/6728 0/3835
?/? c.1192-3C>T r.spl? p.? g.138697214G>A Copied from the Exome Variant Server MCF2_000120 3/10563 0/6728 3/3835
?/? c.1198A>G r.(?) p.(Met400Val) g.138697205T>C Copied from the Exome Variant Server MCF2_000119 1/10563 1/6728 0/3835
?/? c.1232G>A r.(?) p.(Arg411Gln) g.138697171C>T Copied from the Exome Variant Server MCF2_000118 1/10563 0/6728 1/3835
?/? c.1237A>G r.(?) p.(Ile413Val) g.138697166T>C Copied from the Exome Variant Server MCF2_000117 1/10563 1/6728 0/3835
?/? c.1401+51G>A r.(=) p.(=) g.138692409C>T Copied from the Exome Variant Server MCF2_000114 1/10514 1/6700 0/3814
?/? c.1402-48A>G r.(=) p.(=) g.138689986T>C Copied from the Exome Variant Server MCF2_000113 9/10546 8/6713 1/3833
?/? c.1402-8T>C r.(=) p.(=) g.138689946A>G Copied from the Exome Variant Server MCF2_000112 1/10561 0/6726 1/3835
?/? c.1440T>C r.(=) p.(=) g.138689900A>G Copied from the Exome Variant Server MCF2_000111 1/10563 0/6728 1/3835
?/? c.1490+23A>T r.(=) p.(=) g.138689827T>A Copied from the Exome Variant Server MCF2_000110 5/10562 0/6727 5/3835
?/? c.1490+27C>T r.(=) p.(=) g.138689823G>A Copied from the Exome Variant Server MCF2_000109 1/10562 1/6727 0/3835
?/? c.1490+29C>T r.(=) p.(=) g.138689821G>A Copied from the Exome Variant Server MCF2_000108 1/10561 1/6727 0/3834
?/? c.1490+44G>A r.(=) p.(=) g.138689806C>T Copied from the Exome Variant Server MCF2_000107 1/10557 0/6727 1/3830
?/? c.1491-51A>G r.(=) p.(=) g.138687989T>C Copied from the Exome Variant Server MCF2_000106 1/10560 0/6725 1/3835
?/? c.1491-49A>G r.(=) p.(=) g.138687987T>C Copied from the Exome Variant Server MCF2_000105 1/10560 0/6725 1/3835
?/? c.1491-37A>G r.(=) p.(=) g.138687975T>C Copied from the Exome Variant Server MCF2_000104 2/10563 2/6728 0/3835
?/? c.1507C>G r.(?) p.(Leu503Val) g.138687922G>C Copied from the Exome Variant Server MCF2_000103 4/10563 0/6728 4/3835
?/? c.1520A>G r.(?) p.(Glu507Gly) g.138687909T>C Copied from the Exome Variant Server MCF2_000102 1/10563 1/6728 0/3835
?/? c.1557+14A>G r.(=) p.(=) g.138687858T>C Copied from the Exome Variant Server MCF2_000025 1/10563 1/6728 0/3835
?/? c.1558-24C>A r.(=) p.(=) g.138687167G>T Copied from the Exome Variant Server MCF2_000024 15/10562 15/6727 0/3835
?/? c.1665C>A r.(?) p.(Phe555Leu) g.138687036G>T Copied from the Exome Variant Server MCF2_000023 2/10561 2/6726 0/3835
?/? c.1673+23A>G r.(=) p.(=) g.138687005T>C Copied from the Exome Variant Server MCF2_000022 1/10554 0/6722 1/3832
?/? c.1674-35A>G r.(=) p.(=) g.138686944T>C Copied from the Exome Variant Server MCF2_000021 80/10543 75/6718 5/3825
?/? c.1705C>T r.(?) p.(His569Tyr) g.138686878G>A Copied from the Exome Variant Server MCF2_000020 146/10552 139/6720 7/3832
?/? c.1744-8_1744-7insT r.(=) p.(=) g.138684664_138684665insA Copied from the Exome Variant Server MCF2_000019 1/10196 1/6477 0/3719
?/? c.1744-7A>C r.(=) p.(=) g.138684664T>G Copied from the Exome Variant Server MCF2_000018 1/10556 1/6723 0/3833
?/? c.1780A>G r.(?) p.(Asn594Asp) g.138684621T>C Copied from the Exome Variant Server MCF2_000017 11/10561 11/6728 0/3833
?/? c.1824C>T r.(=) p.(=) g.138684577G>A Copied from the Exome Variant Server MCF2_000016 49/10562 0/6727 49/3835
?/? c.1825G>A r.(?) p.(Ala609Thr) g.138684576C>T Copied from the Exome Variant Server MCF2_000015 4/10562 0/6727 4/3835
?/? c.1836+29A>T r.(=) p.(=) g.138684536T>A Copied from the Exome Variant Server MCF2_000014 1/10559 1/6724 0/3835
?/? c.1836+49C>G r.(=) p.(=) g.138684516G>C Copied from the Exome Variant Server MCF2_000013 227/10559 0/6724 227/3835
?/? c.1901G>A r.(?) p.(Arg634Gln) g.138680593C>T Copied from the Exome Variant Server MCF2_000012 1/10559 1/6724 0/3835
?/? c.1908T>C r.(=) p.(=) g.138680586A>G Copied from the Exome Variant Server MCF2_000011 3/10557 2/6723 1/3834
?/? c.1930-25A>G r.(=) p.(=) g.138679769T>C Copied from the Exome Variant Server MCF2_000010 240/10558 0/6723 240/3835
?/? c.1962A>T r.(=) p.(=) g.138679712T>A Copied from the Exome Variant Server MCF2_000009 3820/10559 3458/6724 362/3835
?/? c.2011T>A r.(?) p.(Ser671Thr) g.138679663A>T Copied from the Exome Variant Server MCF2_000008 1/10561 0/6726 1/3835
?/? c.2056-21G>C r.(=) p.(=) g.138678950C>G Copied from the Exome Variant Server MCF2_000007 239/10561 0/6726 239/3835
?/? c.2104G>C r.(?) p.(Val702Leu) g.138678881C>G Copied from the Exome Variant Server MCF2_000006 1/10562 1/6727 0/3835
?/? c.2115G>A r.(=) p.(=) g.138678870C>T Copied from the Exome Variant Server MCF2_000005 1/10563 1/6728 0/3835
?/? c.2126G>T r.(?) p.(Gly709Val) g.138678859C>A Copied from the Exome Variant Server MCF2_000004 19/10563 0/6728 19/3835
?/? c.2159A>C r.(?) p.(Lys720Thr) g.138678826T>G Copied from the Exome Variant Server MCF2_000003 1/10563 0/6728 1/3835
?/? c.2175C>T r.(=) p.(=) g.138678810G>A Copied from the Exome Variant Server MCF2_000002 7/10563 0/6728 7/3835
?/? c.2241C>T r.(=) p.(=) g.138678744G>A Copied from the Exome Variant Server MCF2_000001 445/10561 89/6726 356/3835
?/? c.2258G>A r.(?) p.(Ser753Asn) g.138678727C>T Copied from the Exome Variant Server MCF2_000101 1/10561 0/6726 1/3835
?/? c.2266C>T r.(?) p.(His756Tyr) g.138678719G>A Copied from the Exome Variant Server MCF2_000100 1/10561 0/6726 1/3835
?/? c.2277+34T>C r.(=) p.(=) g.138678674A>G Copied from the Exome Variant Server MCF2_000099 1/10559 0/6726 1/3833
?/? c.2277+48_2277+49del r.(=) p.(=) g.138678659_138678660del Copied from the Exome Variant Server MCF2_000098 169/10196 118/6478 51/3718
?/? c.2278-31G>T r.(=) p.(=) g.138672117C>A Copied from the Exome Variant Server MCF2_000097 97/10534 0/6704 97/3830
?/? c.2363T>C r.(?) p.(Ile788Thr) g.138672001A>G Copied from the Exome Variant Server MCF2_000096 118/10558 1/6723 117/3835
?/? c.2370+16_2370+17insA r.(=) p.(=) g.138671977_138671978insT Copied from the Exome Variant Server MCF2_000095 86/10198 81/6478 5/3720
?/? c.2371-39T>C r.(=) p.(=) g.138670636A>G Copied from the Exome Variant Server MCF2_000094 1/10551 1/6722 0/3829
?/? c.2371-19_2371-18insCCC r.(=) p.(=) g.138670615_138670616insGGG Copied from the Exome Variant Server MCF2_000092 107/10195 55/6478 52/3717
?/? c.2371-19_2371-18insCT r.(=) p.(=) g.138670615_138670616insAG Copied from the Exome Variant Server MCF2_000093 386/10195 174/6478 212/3717
?/? c.2371-10del r.(=) p.(=) g.138670607del Copied from the Exome Variant Server MCF2_000091 64/10182 39/6472 25/3710
?/? c.2371-10dup r.(=) p.(=) g.138670607dup Copied from the Exome Variant Server MCF2_000090 139/10182 82/6472 57/3710
?/? c.2397G>A r.(=) p.(=) g.138670571C>T Copied from the Exome Variant Server MCF2_000116 1/10554 1/6723 0/3831
?/? c.2485C>T r.(?) p.(Arg829Trp) g.138669912G>A Copied from the Exome Variant Server MCF2_000115 1/10563 0/6728 1/3835
?/? c.2522+22A>G r.(=) p.(=) g.138669853T>C Copied from the Exome Variant Server MCF2_000074 1/10561 1/6728 0/3833
?/? c.2523-35A>G r.(=) p.(=) g.138668681T>C Copied from the Exome Variant Server MCF2_000073 2/10563 0/6728 2/3835
?/? c.2523-17A>C r.(=) p.(=) g.138668663T>G Copied from the Exome Variant Server MCF2_000072 3/10563 0/6728 3/3835
?/? c.2559T>G r.(=) p.(=) g.138668610A>C Copied from the Exome Variant Server MCF2_000071 54/10563 0/6728 54/3835
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